Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177260051G>A | CA362302878 | NSD1 | c.4156G>A (p.Ala1386Thr) n.4612G>A c.4720G>A (p.Ala1574Thr) n.4426G>A n.5176G>A c.5029G>A (p.Ala1677Thr) c.4222G>A (p.Ala1408Thr) c.523G>A (p.Ala175Thr) c.4609G>A (p.Ala1537Thr) c.3973G>A (p.Ala1325Thr) c.763G>A (p.Ala255Thr) | dbSNP |
5 | g.177260051G>C | CA362302879 | NSD1 | c.4156G>C (p.Ala1386Pro) n.4612G>C c.4720G>C (p.Ala1574Pro) n.4426G>C n.5176G>C c.5029G>C (p.Ala1677Pro) c.4222G>C (p.Ala1408Pro) c.523G>C (p.Ala175Pro) c.4609G>C (p.Ala1537Pro) c.3973G>C (p.Ala1325Pro) c.763G>C (p.Ala255Pro) | |
5 | g.177260051G>T | CA362302885 | NSD1 | c.4156G>T (p.Ala1386Ser) n.4612G>T c.4720G>T (p.Ala1574Ser) n.4426G>T n.5176G>T c.5029G>T (p.Ala1677Ser) c.4222G>T (p.Ala1408Ser) c.523G>T (p.Ala175Ser) c.4609G>T (p.Ala1537Ser) c.3973G>T (p.Ala1325Ser) c.763G>T (p.Ala255Ser) | |
5 | g.177260052C>A | CA362302890 | NSD1 | c.4157C>A (p.Ala1386Asp) n.4613C>A c.4721C>A (p.Ala1574Asp) n.4427C>A n.5177C>A c.5030C>A (p.Ala1677Asp) c.4223C>A (p.Ala1408Asp) c.524C>A (p.Ala175Asp) c.4610C>A (p.Ala1537Asp) c.3974C>A (p.Ala1325Asp) c.764C>A (p.Ala255Asp) | |
5 | g.177260052C>G | CA362302892 | NSD1 | c.4157C>G (p.Ala1386Gly) n.4613C>G c.4721C>G (p.Ala1574Gly) n.4427C>G n.5177C>G c.5030C>G (p.Ala1677Gly) c.4223C>G (p.Ala1408Gly) c.524C>G (p.Ala175Gly) c.4610C>G (p.Ala1537Gly) c.3974C>G (p.Ala1325Gly) c.764C>G (p.Ala255Gly) | |
5 | g.177260052C>T | CA362302894 | NSD1 | c.4157C>T (p.Ala1386Val) n.4613C>T c.4721C>T (p.Ala1574Val) n.4427C>T n.5177C>T c.5030C>T (p.Ala1677Val) c.4223C>T (p.Ala1408Val) c.524C>T (p.Ala175Val) c.4610C>T (p.Ala1537Val) c.3974C>T (p.Ala1325Val) c.764C>T (p.Ala255Val) | dbSNP |
5 | g.177260053T>A | CA447726316 | NSD1 | c.4158T>A (p.Ala1386=) n.4614T>A c.4722T>A (p.Ala1574=) n.4428T>A n.5178T>A c.5031T>A (p.Ala1677=) c.4224T>A (p.Ala1408=) c.525T>A (p.Ala175=) c.4611T>A (p.Ala1537=) c.3975T>A (p.Ala1325=) c.765T>A (p.Ala255=) | |
5 | g.177260053T>C | CA3577757 | NSD1 | c.4158T>C (p.Ala1386=) n.4614T>C c.4722T>C (p.Ala1574=) n.4428T>C n.5178T>C c.5031T>C (p.Ala1677=) c.4224T>C (p.Ala1408=) c.525T>C (p.Ala175=) c.4611T>C (p.Ala1537=) c.3975T>C (p.Ala1325=) c.765T>C (p.Ala255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177260053T>G | CA447726317 | NSD1 | c.4158T>G (p.Ala1386=) n.4614T>G c.4722T>G (p.Ala1574=) n.4428T>G n.5178T>G c.5031T>G (p.Ala1677=) c.4224T>G (p.Ala1408=) c.525T>G (p.Ala175=) c.4611T>G (p.Ala1537=) c.3975T>G (p.Ala1325=) c.765T>G (p.Ala255=) | |
5 | g.177260053T= | CA1603527098 | NSD1 | c.4158T= (p.Ala1386=) n.4614T= c.4722T= (p.Ala1574=) n.4428T= n.5178T= c.5031T= (p.Ala1677=) c.4224T= (p.Ala1408=) c.525T= (p.Ala175=) c.4611T= (p.Ala1537=) c.3975T= (p.Ala1325=) c.765T= (p.Ala255=) | |
5 | g.177260054G>A | CA362302895 | NSD1 | c.4159G>A (p.Gly1387Arg) n.4615G>A c.4723G>A (p.Gly1575Arg) n.4429G>A n.5179G>A c.5032G>A (p.Gly1678Arg) c.4225G>A (p.Gly1409Arg) c.526G>A (p.Gly176Arg) c.4612G>A (p.Gly1538Arg) c.3976G>A (p.Gly1326Arg) c.766G>A (p.Gly256Arg) | |
5 | g.177260054G>C | CA362302898 | NSD1 | c.4159G>C (p.Gly1387Arg) n.4615G>C c.4723G>C (p.Gly1575Arg) n.4429G>C n.5179G>C c.5032G>C (p.Gly1678Arg) c.4225G>C (p.Gly1409Arg) c.526G>C (p.Gly176Arg) c.4612G>C (p.Gly1538Arg) c.3976G>C (p.Gly1326Arg) c.766G>C (p.Gly256Arg) | |
5 | g.177260054G>T | CA362302901 | NSD1 | c.4159G>T (p.Gly1387Trp) n.4615G>T c.4723G>T (p.Gly1575Trp) n.4429G>T n.5179G>T c.5032G>T (p.Gly1678Trp) c.4225G>T (p.Gly1409Trp) c.526G>T (p.Gly176Trp) c.4612G>T (p.Gly1538Trp) c.3976G>T (p.Gly1326Trp) c.766G>T (p.Gly256Trp) | |
5 | g.177260055G>A | CA362302904 | NSD1 | c.4160G>A (p.Gly1387Glu) n.4616G>A c.4724G>A (p.Gly1575Glu) n.4430G>A n.5180G>A c.5033G>A (p.Gly1678Glu) c.4226G>A (p.Gly1409Glu) c.527G>A (p.Gly176Glu) c.4613G>A (p.Gly1538Glu) c.3977G>A (p.Gly1326Glu) c.767G>A (p.Gly256Glu) | |
5 | g.177260055G>C | CA362302911 | NSD1 | c.4160G>C (p.Gly1387Ala) n.4616G>C c.4724G>C (p.Gly1575Ala) n.4430G>C n.5180G>C c.5033G>C (p.Gly1678Ala) c.4226G>C (p.Gly1409Ala) c.527G>C (p.Gly176Ala) c.4613G>C (p.Gly1538Ala) c.3977G>C (p.Gly1326Ala) c.767G>C (p.Gly256Ala) | ClinVar |
5 | g.177260055G>T | CA362302913 | NSD1 | c.4160G>T (p.Gly1387Val) n.4616G>T c.4724G>T (p.Gly1575Val) n.4430G>T n.5180G>T c.5033G>T (p.Gly1678Val) c.4226G>T (p.Gly1409Val) c.527G>T (p.Gly176Val) c.4613G>T (p.Gly1538Val) c.3977G>T (p.Gly1326Val) c.767G>T (p.Gly256Val) | |
5 | g.177260056G>A | CA447726318 | NSD1 | c.4161G>A (p.Gly1387=) n.4617G>A c.4725G>A (p.Gly1575=) n.4431G>A n.5181G>A c.5034G>A (p.Gly1678=) c.4227G>A (p.Gly1409=) c.528G>A (p.Gly176=) c.4614G>A (p.Gly1538=) c.3978G>A (p.Gly1326=) c.768G>A (p.Gly256=) | gnomAD v4 |
5 | g.177260056G>C | CA447726319 | NSD1 | c.4161G>C (p.Gly1387=) n.4617G>C c.4725G>C (p.Gly1575=) n.4431G>C n.5181G>C c.5034G>C (p.Gly1678=) c.4227G>C (p.Gly1409=) c.528G>C (p.Gly176=) c.4614G>C (p.Gly1538=) c.3978G>C (p.Gly1326=) c.768G>C (p.Gly256=) | |
5 | g.177260056G>T | CA447726320 | NSD1 | c.4161G>T (p.Gly1387=) n.4617G>T c.4725G>T (p.Gly1575=) n.4431G>T n.5181G>T c.5034G>T (p.Gly1678=) c.4227G>T (p.Gly1409=) c.528G>T (p.Gly176=) c.4614G>T (p.Gly1538=) c.3978G>T (p.Gly1326=) c.768G>T (p.Gly256=) | |
5 | g.177260057T>A | CA362302925 | NSD1 | c.4162T>A (p.Ser1388Thr) n.4618T>A c.4726T>A (p.Ser1576Thr) n.4432T>A n.5182T>A c.5035T>A (p.Ser1679Thr) c.4228T>A (p.Ser1410Thr) c.529T>A (p.Ser177Thr) c.4615T>A (p.Ser1539Thr) c.3979T>A (p.Ser1327Thr) c.769T>A (p.Ser257Thr) | |
5 | g.177260057T>C | CA362302918 | NSD1 | c.4162T>C (p.Ser1388Pro) n.4618T>C c.4726T>C (p.Ser1576Pro) n.4432T>C n.5182T>C c.5035T>C (p.Ser1679Pro) c.4228T>C (p.Ser1410Pro) c.529T>C (p.Ser177Pro) c.4615T>C (p.Ser1539Pro) c.3979T>C (p.Ser1327Pro) c.769T>C (p.Ser257Pro) | |
5 | g.177260057T>G | CA362302922 | NSD1 | c.4162T>G (p.Ser1388Ala) n.4618T>G c.4726T>G (p.Ser1576Ala) n.4432T>G n.5182T>G c.5035T>G (p.Ser1679Ala) c.4228T>G (p.Ser1410Ala) c.529T>G (p.Ser177Ala) c.4615T>G (p.Ser1539Ala) c.3979T>G (p.Ser1327Ala) c.769T>G (p.Ser257Ala) | |
5 | g.177260058C>A | CA362302928 | NSD1 | c.4163C>A (p.Ser1388Ter) n.4619C>A c.4727C>A (p.Ser1576Ter) n.4433C>A n.5183C>A c.5036C>A (p.Ser1679Ter) c.4229C>A (p.Ser1410Ter) c.530C>A (p.Ser177Ter) c.4616C>A (p.Ser1539Ter) c.3980C>A (p.Ser1327Ter) c.770C>A (p.Ser257Ter) | gnomAD v4 COSMIC COSMIC |
5 | g.177260058C= | CA1603527100 | NSD1 | c.4163C= (p.Ser1388=) n.4619C= c.4727C= (p.Ser1576=) n.4433C= n.5183C= c.5036C= (p.Ser1679=) c.4229C= (p.Ser1410=) c.530C= (p.Ser177=) c.4616C= (p.Ser1539=) c.3980C= (p.Ser1327=) c.770C= (p.Ser257=) | |
5 | g.177260058C>G | CA16618178 | NSD1 | c.4163C>G (p.Ser1388Ter) n.4619C>G c.4727C>G (p.Ser1576Ter) n.4433C>G n.5183C>G c.5036C>G (p.Ser1679Ter) c.4229C>G (p.Ser1410Ter) c.530C>G (p.Ser177Ter) c.4616C>G (p.Ser1539Ter) c.3980C>G (p.Ser1327Ter) c.770C>G (p.Ser257Ter) | ClinVar dbSNP COSMIC COSMIC |
5 | g.177260058C>T | CA362302932 | NSD1 | c.4163C>T (p.Ser1388Leu) n.4619C>T c.4727C>T (p.Ser1576Leu) n.4433C>T n.5183C>T c.5036C>T (p.Ser1679Leu) c.4229C>T (p.Ser1410Leu) c.530C>T (p.Ser177Leu) c.4616C>T (p.Ser1539Leu) c.3980C>T (p.Ser1327Leu) c.770C>T (p.Ser257Leu) | |
5 | g.177260059A>C | CA447726321 | NSD1 | c.4164A>C (p.Ser1388=) n.4620A>C c.4728A>C (p.Ser1576=) n.4434A>C n.5184A>C c.5037A>C (p.Ser1679=) c.4230A>C (p.Ser1410=) c.531A>C (p.Ser177=) c.4617A>C (p.Ser1539=) c.3981A>C (p.Ser1327=) c.771A>C (p.Ser257=) | |
5 | g.177260059A>G | CA447726322 | NSD1 | c.4164A>G (p.Ser1388=) n.4620A>G c.4728A>G (p.Ser1576=) n.4434A>G n.5184A>G c.5037A>G (p.Ser1679=) c.4230A>G (p.Ser1410=) c.531A>G (p.Ser177=) c.4617A>G (p.Ser1539=) c.3981A>G (p.Ser1327=) c.771A>G (p.Ser257=) | |
5 | g.177260059A>T | CA447726323 | NSD1 | c.4164A>T (p.Ser1388=) n.4620A>T c.4728A>T (p.Ser1576=) n.4434A>T n.5184A>T c.5037A>T (p.Ser1679=) c.4230A>T (p.Ser1410=) c.531A>T (p.Ser177=) c.4617A>T (p.Ser1539=) c.3981A>T (p.Ser1327=) c.771A>T (p.Ser257=) | |
5 | g.177260060_177260061insGCAAA | CA2711095124 | NSD1 | c.4165_4166insGCAAA (p.Lys1389SerfsTer?) n.4621_4622insGCAAA c.4729_4730insGCAAA (p.Lys1577SerfsTer?) n.4435_4436insGCAAA n.5185_5186insGCAAA c.5038_5039insGCAAA (p.Lys1680SerfsTer?) c.4231_4232insGCAAA (p.Lys1411SerfsTer?) c.532_533insGCAAA (p.Lys178SerfsTer?) c.4618_4619insGCAAA (p.Lys1540SerfsTer?) c.3982_3983insGCAAA (p.Lys1328SerfsTer?) c.772_773insGCAAA (p.Lys258SerfsTer?) | dbSNP |
5 | g.177260060A= | CA1603527104 | NSD1 | c.4165A= (p.Lys1389=) n.4621A= c.4729A= (p.Lys1577=) n.4435A= n.5185A= c.5038A= (p.Lys1680=) c.4231A= (p.Lys1411=) c.532A= (p.Lys178=) c.4618A= (p.Lys1540=) c.3982A= (p.Lys1328=) c.772A= (p.Lys258=) | |
5 | g.177260060A>C | CA362302935 | NSD1 | c.4165A>C (p.Lys1389Gln) n.4621A>C c.4729A>C (p.Lys1577Gln) n.4435A>C n.5185A>C c.5038A>C (p.Lys1680Gln) c.4231A>C (p.Lys1411Gln) c.532A>C (p.Lys178Gln) c.4618A>C (p.Lys1540Gln) c.3982A>C (p.Lys1328Gln) c.772A>C (p.Lys258Gln) | |
5 | g.177260060A>G | CA3577758 | NSD1 | c.4165A>G (p.Lys1389Glu) n.4621A>G c.4729A>G (p.Lys1577Glu) n.4435A>G n.5185A>G c.5038A>G (p.Lys1680Glu) c.4231A>G (p.Lys1411Glu) c.532A>G (p.Lys178Glu) c.4618A>G (p.Lys1540Glu) c.3982A>G (p.Lys1328Glu) c.772A>G (p.Lys258Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177260060A>T | CA362302939 | NSD1 | c.4165A>T (p.Lys1389Ter) n.4621A>T c.4729A>T (p.Lys1577Ter) n.4435A>T n.5185A>T c.5038A>T (p.Lys1680Ter) c.4231A>T (p.Lys1411Ter) c.532A>T (p.Lys178Ter) c.4618A>T (p.Lys1540Ter) c.3982A>T (p.Lys1328Ter) c.772A>T (p.Lys258Ter) | |
5 | g.177260061A>C | CA362302941 | NSD1 | c.4166A>C (p.Lys1389Thr) n.4622A>C c.4730A>C (p.Lys1577Thr) n.4436A>C n.5186A>C c.5039A>C (p.Lys1680Thr) c.4232A>C (p.Lys1411Thr) c.533A>C (p.Lys178Thr) c.4619A>C (p.Lys1540Thr) c.3983A>C (p.Lys1328Thr) c.773A>C (p.Lys258Thr) | |
5 | g.177260061A>G | CA362302943 | NSD1 | c.4166A>G (p.Lys1389Arg) n.4622A>G c.4730A>G (p.Lys1577Arg) n.4436A>G n.5186A>G c.5039A>G (p.Lys1680Arg) c.4232A>G (p.Lys1411Arg) c.533A>G (p.Lys178Arg) c.4619A>G (p.Lys1540Arg) c.3983A>G (p.Lys1328Arg) c.773A>G (p.Lys258Arg) | |
5 | g.177260061A>T | CA362302944 | NSD1 | c.4166A>T (p.Lys1389Met) n.4622A>T c.4730A>T (p.Lys1577Met) n.4436A>T n.5186A>T c.5039A>T (p.Lys1680Met) c.4232A>T (p.Lys1411Met) c.533A>T (p.Lys178Met) c.4619A>T (p.Lys1540Met) c.3983A>T (p.Lys1328Met) c.773A>T (p.Lys258Met) | |
5 | g.177260062G>A | CA447726325 | NSD1 | c.4167G>A (p.Lys1389=) n.4623G>A c.4731G>A (p.Lys1577=) n.4437G>A n.5187G>A c.5040G>A (p.Lys1680=) c.4233G>A (p.Lys1411=) c.534G>A (p.Lys178=) c.4620G>A (p.Lys1540=) c.3984G>A (p.Lys1328=) c.774G>A (p.Lys258=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177260062G>C | CA362302951 | NSD1 | c.4167G>C (p.Lys1389Asn) n.4623G>C c.4731G>C (p.Lys1577Asn) n.4437G>C n.5187G>C c.5040G>C (p.Lys1680Asn) c.4233G>C (p.Lys1411Asn) c.534G>C (p.Lys178Asn) c.4620G>C (p.Lys1540Asn) c.3984G>C (p.Lys1328Asn) c.774G>C (p.Lys258Asn) | |
5 | g.177260062G= | CA1603527108 | NSD1 | c.4167G= (p.Lys1389=) n.4623G= c.4731G= (p.Lys1577=) n.4437G= n.5187G= c.5040G= (p.Lys1680=) c.4233G= (p.Lys1411=) c.534G= (p.Lys178=) c.4620G= (p.Lys1540=) c.3984G= (p.Lys1328=) c.774G= (p.Lys258=) | |
5 | g.177260062G>T | CA362302954 | NSD1 | c.4167G>T (p.Lys1389Asn) n.4623G>T c.4731G>T (p.Lys1577Asn) n.4437G>T n.5187G>T c.5040G>T (p.Lys1680Asn) c.4233G>T (p.Lys1411Asn) c.534G>T (p.Lys178Asn) c.4620G>T (p.Lys1540Asn) c.3984G>T (p.Lys1328Asn) c.774G>T (p.Lys258Asn) | |
5 | g.177260063A>C | CA362302956 | NSD1 | c.4168A>C (p.Ile1390Leu) n.4624A>C c.4732A>C (p.Ile1578Leu) n.4438A>C n.5188A>C c.5041A>C (p.Ile1681Leu) c.4234A>C (p.Ile1412Leu) c.535A>C (p.Ile179Leu) c.4621A>C (p.Ile1541Leu) c.3985A>C (p.Ile1329Leu) c.775A>C (p.Ile259Leu) | |
5 | g.177260063A>G | CA362302963 | NSD1 | c.4168A>G (p.Ile1390Val) n.4624A>G c.4732A>G (p.Ile1578Val) n.4438A>G n.5188A>G c.5041A>G (p.Ile1681Val) c.4234A>G (p.Ile1412Val) c.535A>G (p.Ile179Val) c.4621A>G (p.Ile1541Val) c.3985A>G (p.Ile1329Val) c.775A>G (p.Ile259Val) | gnomAD v4 |
5 | g.177260063A>T | CA362302959 | NSD1 | c.4168A>T (p.Ile1390Phe) n.4624A>T c.4732A>T (p.Ile1578Phe) n.4438A>T n.5188A>T c.5041A>T (p.Ile1681Phe) c.4234A>T (p.Ile1412Phe) c.535A>T (p.Ile179Phe) c.4621A>T (p.Ile1541Phe) c.3985A>T (p.Ile1329Phe) c.775A>T (p.Ile259Phe) | |
5 | g.177260063_177260064insAAAACAAAAATATTAAATA | CA2711095160 | NSD1 | c.4168_4169insAAAACAAAAATATTAAATA (p.Ile1390LysfsTer11) n.4624_4625insAAAACAAAAATATTAAATA c.4732_4733insAAAACAAAAATATTAAATA (p.Ile1578LysfsTer11) n.4438_4439insAAAACAAAAATATTAAATA n.5188_5189insAAAACAAAAATATTAAATA c.5041_5042insAAAACAAAAATATTAAATA (p.Ile1681LysfsTer11) c.4234_4235insAAAACAAAAATATTAAATA (p.Ile1412LysfsTer11) c.535_536insAAAACAAAAATATTAAATA (p.Ile179LysfsTer11) c.4621_4622insAAAACAAAAATATTAAATA (p.Ile1541LysfsTer11) c.3985_3986insAAAACAAAAATATTAAATA (p.Ile1329LysfsTer11) c.775_776insAAAACAAAAATATTAAATA (p.Ile259LysfsTer11) | dbSNP |
5 | g.177260064T>A | CA362302967 | NSD1 | c.4169T>A (p.Ile1390Asn) n.4625T>A c.4733T>A (p.Ile1578Asn) n.4439T>A n.5189T>A c.5042T>A (p.Ile1681Asn) c.4235T>A (p.Ile1412Asn) c.536T>A (p.Ile179Asn) c.4622T>A (p.Ile1541Asn) c.3986T>A (p.Ile1329Asn) c.776T>A (p.Ile259Asn) | |
5 | g.177260064T>C | CA362302970 | NSD1 | c.4169T>C (p.Ile1390Thr) n.4625T>C c.4733T>C (p.Ile1578Thr) n.4439T>C n.5189T>C c.5042T>C (p.Ile1681Thr) c.4235T>C (p.Ile1412Thr) c.536T>C (p.Ile179Thr) c.4622T>C (p.Ile1541Thr) c.3986T>C (p.Ile1329Thr) c.776T>C (p.Ile259Thr) | |
5 | g.177260064T>G | CA362302973 | NSD1 | c.4169T>G (p.Ile1390Ser) n.4625T>G c.4733T>G (p.Ile1578Ser) n.4439T>G n.5189T>G c.5042T>G (p.Ile1681Ser) c.4235T>G (p.Ile1412Ser) c.536T>G (p.Ile179Ser) c.4622T>G (p.Ile1541Ser) c.3986T>G (p.Ile1329Ser) c.776T>G (p.Ile259Ser) | |
5 | g.177260065C>A | CA447726327 | NSD1 | c.4170C>A (p.Ile1390=) n.4626C>A c.4734C>A (p.Ile1578=) n.4440C>A n.5190C>A c.5043C>A (p.Ile1681=) c.4236C>A (p.Ile1412=) c.537C>A (p.Ile179=) c.4623C>A (p.Ile1541=) c.3987C>A (p.Ile1329=) c.777C>A (p.Ile259=) | COSMIC COSMIC |
5 | g.177260065C>G | CA362302974 | NSD1 | c.4170C>G (p.Ile1390Met) n.4626C>G c.4734C>G (p.Ile1578Met) n.4440C>G n.5190C>G c.5043C>G (p.Ile1681Met) c.4236C>G (p.Ile1412Met) c.537C>G (p.Ile179Met) c.4623C>G (p.Ile1541Met) c.3987C>G (p.Ile1329Met) c.777C>G (p.Ile259Met) |