Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177260051G>ACA362302878NSD1c.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
5g.177260051G>CCA362302879NSD1c.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)
5g.177260051G>TCA362302885NSD1c.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)
5g.177260052C>ACA362302890NSD1c.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)
5g.177260052C>GCA362302892NSD1c.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)
5g.177260052C>TCA362302894NSD1c.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
5g.177260053T>ACA447726316NSD1c.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=)
5g.177260053T>CCA3577757NSD1c.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
5g.177260053T>GCA447726317NSD1c.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=)
5g.177260053T=CA1603527098NSD1c.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=)
5g.177260054G>ACA362302895NSD1c.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)
5g.177260054G>CCA362302898NSD1c.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)
5g.177260054G>TCA362302901NSD1c.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)
5g.177260055G>ACA362302904NSD1c.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)
5g.177260055G>CCA362302911NSD1c.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
5g.177260055G>TCA362302913NSD1c.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)
5g.177260056G>ACA447726318NSD1c.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
5g.177260056G>CCA447726319NSD1c.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=)
5g.177260056G>TCA447726320NSD1c.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=)
5g.177260057T>ACA362302925NSD1c.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)
5g.177260057T>CCA362302918NSD1c.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)
5g.177260057T>GCA362302922NSD1c.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)
5g.177260058C>ACA362302928NSD1c.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
5g.177260058C=CA1603527100NSD1c.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=)
5g.177260058C>GCA16618178NSD1c.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
5g.177260058C>TCA362302932NSD1c.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)
5g.177260059A>CCA447726321NSD1c.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=)
5g.177260059A>GCA447726322NSD1c.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=)
5g.177260059A>TCA447726323NSD1c.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=)
5g.177260060_177260061insGCAAACA2711095124NSD1c.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
5g.177260060A=CA1603527104NSD1c.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=)
5g.177260060A>CCA362302935NSD1c.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)
5g.177260060A>GCA3577758NSD1c.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
5g.177260060A>TCA362302939NSD1c.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)
5g.177260061A>CCA362302941NSD1c.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)
5g.177260061A>GCA362302943NSD1c.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)
5g.177260061A>TCA362302944NSD1c.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)
5g.177260062G>ACA447726325NSD1c.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
5g.177260062G>CCA362302951NSD1c.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)
5g.177260062G=CA1603527108NSD1c.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=)
5g.177260062G>TCA362302954NSD1c.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)
5g.177260063A>CCA362302956NSD1c.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)
5g.177260063A>GCA362302963NSD1c.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
5g.177260063A>TCA362302959NSD1c.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)
5g.177260063_177260064insAAAACAAAAATATTAAATACA2711095160NSD1c.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
5g.177260064T>ACA362302967NSD1c.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)
5g.177260064T>CCA362302970NSD1c.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)
5g.177260064T>GCA362302973NSD1c.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)
5g.177260065C>ACA447726327NSD1c.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
5g.177260065C>GCA362302974NSD1c.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)

Number of alleles fetched