Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
5g.177260065C>TCA447726328NSD1c.4170C>T (p.Ile1390=)
n.4626C>T
c.4734C>T (p.Ile1578=)
n.4440C>T
n.5190C>T
c.5043C>T (p.Ile1681=)
c.4236C>T (p.Ile1412=)
c.537C>T (p.Ile179=)
c.4623C>T (p.Ile1541=)
c.3987C>T (p.Ile1329=)
c.777C>T (p.Ile259=)
5g.177260066C>ACA362302975NSD1c.4171C>A (p.Leu1391Ile)
n.4627C>A
c.4735C>A (p.Leu1579Ile)
n.4441C>A
n.5191C>A
c.5044C>A (p.Leu1682Ile)
c.4237C>A (p.Leu1413Ile)
c.538C>A (p.Leu180Ile)
c.4624C>A (p.Leu1542Ile)
c.3988C>A (p.Leu1330Ile)
c.778C>A (p.Leu260Ile)
 dbSNP
5g.177260066C>GCA362302976NSD1c.4171C>G (p.Leu1391Val)
n.4627C>G
c.4735C>G (p.Leu1579Val)
n.4441C>G
n.5191C>G
c.5044C>G (p.Leu1682Val)
c.4237C>G (p.Leu1413Val)
c.538C>G (p.Leu180Val)
c.4624C>G (p.Leu1542Val)
c.3988C>G (p.Leu1330Val)
c.778C>G (p.Leu260Val)
5g.177260066C>TCA362302978NSD1c.4171C>T (p.Leu1391Phe)
n.4627C>T
c.4735C>T (p.Leu1579Phe)
n.4441C>T
n.5191C>T
c.5044C>T (p.Leu1682Phe)
c.4237C>T (p.Leu1413Phe)
c.538C>T (p.Leu180Phe)
c.4624C>T (p.Leu1542Phe)
c.3988C>T (p.Leu1330Phe)
c.778C>T (p.Leu260Phe)
5g.177260067T>ACA362302981NSD1c.4172T>A (p.Leu1391His)
n.4628T>A
c.4736T>A (p.Leu1579His)
n.4442T>A
n.5192T>A
c.5045T>A (p.Leu1682His)
c.4238T>A (p.Leu1413His)
c.539T>A (p.Leu180His)
c.4625T>A (p.Leu1542His)
c.3989T>A (p.Leu1330His)
c.779T>A (p.Leu260His)
5g.177260067T>CCA362302982NSD1c.4172T>C (p.Leu1391Pro)
n.4628T>C
c.4736T>C (p.Leu1579Pro)
n.4442T>C
n.5192T>C
c.5045T>C (p.Leu1682Pro)
c.4238T>C (p.Leu1413Pro)
c.539T>C (p.Leu180Pro)
c.4625T>C (p.Leu1542Pro)
c.3989T>C (p.Leu1330Pro)
c.779T>C (p.Leu260Pro)
5g.177260067T>GCA362302984NSD1c.4172T>G (p.Leu1391Arg)
n.4628T>G
c.4736T>G (p.Leu1579Arg)
n.4442T>G
n.5192T>G
c.5045T>G (p.Leu1682Arg)
c.4238T>G (p.Leu1413Arg)
c.539T>G (p.Leu180Arg)
c.4625T>G (p.Leu1542Arg)
c.3989T>G (p.Leu1330Arg)
c.779T>G (p.Leu260Arg)
5g.177260068T>ACA447726330NSD1c.4173T>A (p.Leu1391=)
n.4629T>A
c.4737T>A (p.Leu1579=)
n.4443T>A
n.5193T>A
c.5046T>A (p.Leu1682=)
c.4239T>A (p.Leu1413=)
c.540T>A (p.Leu180=)
c.4626T>A (p.Leu1542=)
c.3990T>A (p.Leu1330=)
c.780T>A (p.Leu260=)
5g.177260068T>CCA447726331NSD1c.4173T>C (p.Leu1391=)
n.4629T>C
c.4737T>C (p.Leu1579=)
n.4443T>C
n.5193T>C
c.5046T>C (p.Leu1682=)
c.4239T>C (p.Leu1413=)
c.540T>C (p.Leu180=)
c.4626T>C (p.Leu1542=)
c.3990T>C (p.Leu1330=)
c.780T>C (p.Leu260=)
5g.177260068T>GCA447726332NSD1c.4173T>G (p.Leu1391=)
n.4629T>G
c.4737T>G (p.Leu1579=)
n.4443T>G
n.5193T>G
c.5046T>G (p.Leu1682=)
c.4239T>G (p.Leu1413=)
c.540T>G (p.Leu180=)
c.4626T>G (p.Leu1542=)
c.3990T>G (p.Leu1330=)
c.780T>G (p.Leu260=)
 ClinVar gnomAD v4
5g.177260069G>ACA362302986NSD1c.4174G>A (p.Ala1392Thr)
n.4630G>A
c.4738G>A (p.Ala1580Thr)
n.4444G>A
n.5194G>A
c.5047G>A (p.Ala1683Thr)
c.4240G>A (p.Ala1414Thr)
c.541G>A (p.Ala181Thr)
c.4627G>A (p.Ala1543Thr)
c.3991G>A (p.Ala1331Thr)
c.781G>A (p.Ala261Thr)
5g.177260069G>CCA362302987NSD1c.4174G>C (p.Ala1392Pro)
n.4630G>C
c.4738G>C (p.Ala1580Pro)
n.4444G>C
n.5194G>C
c.5047G>C (p.Ala1683Pro)
c.4240G>C (p.Ala1414Pro)
c.541G>C (p.Ala181Pro)
c.4627G>C (p.Ala1543Pro)
c.3991G>C (p.Ala1331Pro)
c.781G>C (p.Ala261Pro)
 dbSNP
5g.177260069G>TCA362302988NSD1c.4174G>T (p.Ala1392Ser)
n.4630G>T
c.4738G>T (p.Ala1580Ser)
n.4444G>T
n.5194G>T
c.5047G>T (p.Ala1683Ser)
c.4240G>T (p.Ala1414Ser)
c.541G>T (p.Ala181Ser)
c.4627G>T (p.Ala1543Ser)
c.3991G>T (p.Ala1331Ser)
c.781G>T (p.Ala261Ser)
5g.177260070C>ACA362302994NSD1c.4175C>A (p.Ala1392Glu)
n.4631C>A
c.4739C>A (p.Ala1580Glu)
n.4445C>A
n.5195C>A
c.5048C>A (p.Ala1683Glu)
c.4241C>A (p.Ala1414Glu)
c.542C>A (p.Ala181Glu)
c.4628C>A (p.Ala1543Glu)
c.3992C>A (p.Ala1331Glu)
c.782C>A (p.Ala261Glu)
5g.177260070C>GCA362302992NSD1c.4175C>G (p.Ala1392Gly)
n.4631C>G
c.4739C>G (p.Ala1580Gly)
n.4445C>G
n.5195C>G
c.5048C>G (p.Ala1683Gly)
c.4241C>G (p.Ala1414Gly)
c.542C>G (p.Ala181Gly)
c.4628C>G (p.Ala1543Gly)
c.3992C>G (p.Ala1331Gly)
c.782C>G (p.Ala261Gly)
5g.177260070C>TCA362302990NSD1c.4175C>T (p.Ala1392Val)
n.4631C>T
c.4739C>T (p.Ala1580Val)
n.4445C>T
n.5195C>T
c.5048C>T (p.Ala1683Val)
c.4241C>T (p.Ala1414Val)
c.542C>T (p.Ala181Val)
c.4628C>T (p.Ala1543Val)
c.3992C>T (p.Ala1331Val)
c.782C>T (p.Ala261Val)
5g.177260071A>CCA447726337NSD1c.4176A>C (p.Ala1392=)
n.4632A>C
c.4740A>C (p.Ala1580=)
n.4446A>C
n.5196A>C
c.5049A>C (p.Ala1683=)
c.4242A>C (p.Ala1414=)
c.543A>C (p.Ala181=)
c.4629A>C (p.Ala1543=)
c.3993A>C (p.Ala1331=)
c.783A>C (p.Ala261=)
5g.177260071A>GCA447726336NSD1c.4176A>G (p.Ala1392=)
n.4632A>G
c.4740A>G (p.Ala1580=)
n.4446A>G
n.5196A>G
c.5049A>G (p.Ala1683=)
c.4242A>G (p.Ala1414=)
c.543A>G (p.Ala181=)
c.4629A>G (p.Ala1543=)
c.3993A>G (p.Ala1331=)
c.783A>G (p.Ala261=)
5g.177260071A>TCA447726335NSD1c.4176A>T (p.Ala1392=)
n.4632A>T
c.4740A>T (p.Ala1580=)
n.4446A>T
n.5196A>T
c.5049A>T (p.Ala1683=)
c.4242A>T (p.Ala1414=)
c.543A>T (p.Ala181=)
c.4629A>T (p.Ala1543=)
c.3993A>T (p.Ala1331=)
c.783A>T (p.Ala261=)
5g.177260072T>ACA3577759NSD1c.4177T>A (p.Ser1393Thr)
n.4633T>A
c.4741T>A (p.Ser1581Thr)
n.4447T>A
n.5197T>A
c.5050T>A (p.Ser1684Thr)
c.4243T>A (p.Ser1415Thr)
c.544T>A (p.Ser182Thr)
c.4630T>A (p.Ser1544Thr)
c.3994T>A (p.Ser1332Thr)
c.784T>A (p.Ser262Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177260072T>CCA362302996NSD1c.4177T>C (p.Ser1393Pro)
n.4633T>C
c.4741T>C (p.Ser1581Pro)
n.4447T>C
n.5197T>C
c.5050T>C (p.Ser1684Pro)
c.4243T>C (p.Ser1415Pro)
c.544T>C (p.Ser182Pro)
c.4630T>C (p.Ser1544Pro)
c.3994T>C (p.Ser1332Pro)
c.784T>C (p.Ser262Pro)
5g.177260072T>GCA362302997NSD1c.4177T>G (p.Ser1393Ala)
n.4633T>G
c.4741T>G (p.Ser1581Ala)
n.4447T>G
n.5197T>G
c.5050T>G (p.Ser1684Ala)
c.4243T>G (p.Ser1415Ala)
c.544T>G (p.Ser182Ala)
c.4630T>G (p.Ser1544Ala)
c.3994T>G (p.Ser1332Ala)
c.784T>G (p.Ser262Ala)
5g.177260072T=CA1603527120NSD1c.4177T= (p.Ser1393=)
n.4633T=
c.4741T= (p.Ser1581=)
n.4447T=
n.5197T=
c.5050T= (p.Ser1684=)
c.4243T= (p.Ser1415=)
c.544T= (p.Ser182=)
c.4630T= (p.Ser1544=)
c.3994T= (p.Ser1332=)
c.784T= (p.Ser262=)
5g.177260073C>ACA362303000NSD1c.4178C>A (p.Ser1393Tyr)
n.4634C>A
c.4742C>A (p.Ser1581Tyr)
n.4448C>A
n.5198C>A
c.5051C>A (p.Ser1684Tyr)
c.4244C>A (p.Ser1415Tyr)
c.545C>A (p.Ser182Tyr)
c.4631C>A (p.Ser1544Tyr)
c.3995C>A (p.Ser1332Tyr)
c.785C>A (p.Ser262Tyr)
5g.177260073C>GCA362303001NSD1c.4178C>G (p.Ser1393Cys)
n.4634C>G
c.4742C>G (p.Ser1581Cys)
n.4448C>G
n.5198C>G
c.5051C>G (p.Ser1684Cys)
c.4244C>G (p.Ser1415Cys)
c.545C>G (p.Ser182Cys)
c.4631C>G (p.Ser1544Cys)
c.3995C>G (p.Ser1332Cys)
c.785C>G (p.Ser262Cys)
5g.177260073C>TCA362303003NSD1c.4178C>T (p.Ser1393Phe)
n.4634C>T
c.4742C>T (p.Ser1581Phe)
n.4448C>T
n.5198C>T
c.5051C>T (p.Ser1684Phe)
c.4244C>T (p.Ser1415Phe)
c.545C>T (p.Ser182Phe)
c.4631C>T (p.Ser1544Phe)
c.3995C>T (p.Ser1332Phe)
c.785C>T (p.Ser262Phe)
5g.177260074T>ACA447726339NSD1c.4179T>A (p.Ser1393=)
n.4635T>A
c.4743T>A (p.Ser1581=)
n.4449T>A
n.5199T>A
c.5052T>A (p.Ser1684=)
c.4245T>A (p.Ser1415=)
c.546T>A (p.Ser182=)
c.4632T>A (p.Ser1544=)
c.3996T>A (p.Ser1332=)
c.786T>A (p.Ser262=)
5g.177260074T>CCA447726341NSD1c.4179T>C (p.Ser1393=)
n.4635T>C
c.4743T>C (p.Ser1581=)
n.4449T>C
n.5199T>C
c.5052T>C (p.Ser1684=)
c.4245T>C (p.Ser1415=)
c.546T>C (p.Ser182=)
c.4632T>C (p.Ser1544=)
c.3996T>C (p.Ser1332=)
c.786T>C (p.Ser262=)
5g.177260074T>GCA447726343NSD1c.4179T>G (p.Ser1393=)
n.4635T>G
c.4743T>G (p.Ser1581=)
n.4449T>G
n.5199T>G
c.5052T>G (p.Ser1684=)
c.4245T>G (p.Ser1415=)
c.546T>G (p.Ser182=)
c.4632T>G (p.Ser1544=)
c.3996T>G (p.Ser1332=)
c.786T>G (p.Ser262=)
5g.177260075A>CCA362303005NSD1c.4180A>C (p.Asn1394His)
n.4636A>C
c.4744A>C (p.Asn1582His)
n.4450A>C
n.5200A>C
c.5053A>C (p.Asn1685His)
c.4246A>C (p.Asn1416His)
c.547A>C (p.Asn183His)
c.4633A>C (p.Asn1545His)
c.3997A>C (p.Asn1333His)
c.787A>C (p.Asn263His)
5g.177260075A>GCA362303006NSD1c.4180A>G (p.Asn1394Asp)
n.4636A>G
c.4744A>G (p.Asn1582Asp)
n.4450A>G
n.5200A>G
c.5053A>G (p.Asn1685Asp)
c.4246A>G (p.Asn1416Asp)
c.547A>G (p.Asn183Asp)
c.4633A>G (p.Asn1545Asp)
c.3997A>G (p.Asn1333Asp)
c.787A>G (p.Asn263Asp)
5g.177260075A>TCA362303007NSD1c.4180A>T (p.Asn1394Tyr)
n.4636A>T
c.4744A>T (p.Asn1582Tyr)
n.4450A>T
n.5200A>T
c.5053A>T (p.Asn1685Tyr)
c.4246A>T (p.Asn1416Tyr)
c.547A>T (p.Asn183Tyr)
c.4633A>T (p.Asn1545Tyr)
c.3997A>T (p.Asn1333Tyr)
c.787A>T (p.Asn263Tyr)
5g.177260076A>CCA362303008NSD1c.4181A>C (p.Asn1394Thr)
n.4637A>C
c.4745A>C (p.Asn1582Thr)
n.4451A>C
n.5201A>C
c.5054A>C (p.Asn1685Thr)
c.4247A>C (p.Asn1416Thr)
c.548A>C (p.Asn183Thr)
c.4634A>C (p.Asn1545Thr)
c.3998A>C (p.Asn1333Thr)
c.788A>C (p.Asn263Thr)
5g.177260076A>GCA362303010NSD1c.4181A>G (p.Asn1394Ser)
n.4637A>G
c.4745A>G (p.Asn1582Ser)
n.4451A>G
n.5201A>G
c.5054A>G (p.Asn1685Ser)
c.4247A>G (p.Asn1416Ser)
c.548A>G (p.Asn183Ser)
c.4634A>G (p.Asn1545Ser)
c.3998A>G (p.Asn1333Ser)
c.788A>G (p.Asn263Ser)
5g.177260076A>TCA362303011NSD1c.4181A>T (p.Asn1394Ile)
n.4637A>T
c.4745A>T (p.Asn1582Ile)
n.4451A>T
n.5201A>T
c.5054A>T (p.Asn1685Ile)
c.4247A>T (p.Asn1416Ile)
c.548A>T (p.Asn183Ile)
c.4634A>T (p.Asn1545Ile)
c.3998A>T (p.Asn1333Ile)
c.788A>T (p.Asn263Ile)
5g.177260077T>ACA362303012NSD1c.4182T>A (p.Asn1394Lys)
n.4638T>A
c.4746T>A (p.Asn1582Lys)
n.4452T>A
n.5202T>A
c.5055T>A (p.Asn1685Lys)
c.4248T>A (p.Asn1416Lys)
c.549T>A (p.Asn183Lys)
c.4635T>A (p.Asn1545Lys)
c.3999T>A (p.Asn1333Lys)
c.789T>A (p.Asn263Lys)
5g.177260077T>CCA447726346NSD1c.4182T>C (p.Asn1394=)
n.4638T>C
c.4746T>C (p.Asn1582=)
n.4452T>C
n.5202T>C
c.5055T>C (p.Asn1685=)
c.4248T>C (p.Asn1416=)
c.549T>C (p.Asn183=)
c.4635T>C (p.Asn1545=)
c.3999T>C (p.Asn1333=)
c.789T>C (p.Asn263=)
5g.177260077T>GCA362303014NSD1c.4182T>G (p.Asn1394Lys)
n.4638T>G
c.4746T>G (p.Asn1582Lys)
n.4452T>G
n.5202T>G
c.5055T>G (p.Asn1685Lys)
c.4248T>G (p.Asn1416Lys)
c.549T>G (p.Asn183Lys)
c.4635T>G (p.Asn1545Lys)
c.3999T>G (p.Asn1333Lys)
c.789T>G (p.Asn263Lys)
5g.177260078A>CCA362303019NSD1c.4183A>C (p.Ser1395Arg)
n.4639A>C
c.4747A>C (p.Ser1583Arg)
n.4453A>C
n.5203A>C
c.5056A>C (p.Ser1686Arg)
c.4249A>C (p.Ser1417Arg)
c.550A>C (p.Ser184Arg)
c.4636A>C (p.Ser1546Arg)
c.4000A>C (p.Ser1334Arg)
c.790A>C (p.Ser264Arg)
5g.177260078A>GCA362303017NSD1c.4183A>G (p.Ser1395Gly)
n.4639A>G
c.4747A>G (p.Ser1583Gly)
n.4453A>G
n.5203A>G
c.5056A>G (p.Ser1686Gly)
c.4249A>G (p.Ser1417Gly)
c.550A>G (p.Ser184Gly)
c.4636A>G (p.Ser1546Gly)
c.4000A>G (p.Ser1334Gly)
c.790A>G (p.Ser264Gly)
5g.177260078A>TCA362303016NSD1c.4183A>T (p.Ser1395Cys)
n.4639A>T
c.4747A>T (p.Ser1583Cys)
n.4453A>T
n.5203A>T
c.5056A>T (p.Ser1686Cys)
c.4249A>T (p.Ser1417Cys)
c.550A>T (p.Ser184Cys)
c.4636A>T (p.Ser1546Cys)
c.4000A>T (p.Ser1334Cys)
c.790A>T (p.Ser264Cys)
5g.177260079G>ACA362303021NSD1c.4184G>A (p.Ser1395Asn)
n.4640G>A
c.4748G>A (p.Ser1583Asn)
n.4454G>A
n.5204G>A
c.5057G>A (p.Ser1686Asn)
c.4250G>A (p.Ser1417Asn)
c.551G>A (p.Ser184Asn)
c.4637G>A (p.Ser1546Asn)
c.4001G>A (p.Ser1334Asn)
c.791G>A (p.Ser264Asn)
5g.177260079G>CCA362303022NSD1c.4184G>C (p.Ser1395Thr)
n.4640G>C
c.4748G>C (p.Ser1583Thr)
n.4454G>C
n.5204G>C
c.5057G>C (p.Ser1686Thr)
c.4250G>C (p.Ser1417Thr)
c.551G>C (p.Ser184Thr)
c.4637G>C (p.Ser1546Thr)
c.4001G>C (p.Ser1334Thr)
c.791G>C (p.Ser264Thr)
5g.177260079G>TCA362303023NSD1c.4184G>T (p.Ser1395Ile)
n.4640G>T
c.4748G>T (p.Ser1583Ile)
n.4454G>T
n.5204G>T
c.5057G>T (p.Ser1686Ile)
c.4250G>T (p.Ser1417Ile)
c.551G>T (p.Ser184Ile)
c.4637G>T (p.Ser1546Ile)
c.4001G>T (p.Ser1334Ile)
c.791G>T (p.Ser264Ile)
5g.177260080T>ACA362303024NSD1c.4185T>A (p.Ser1395Arg)
n.4641T>A
c.4749T>A (p.Ser1583Arg)
n.4455T>A
n.5205T>A
c.5058T>A (p.Ser1686Arg)
c.4251T>A (p.Ser1417Arg)
c.552T>A (p.Ser184Arg)
c.4638T>A (p.Ser1546Arg)
c.4002T>A (p.Ser1334Arg)
c.792T>A (p.Ser264Arg)
5g.177260080T>CCA447726349NSD1c.4185T>C (p.Ser1395=)
n.4641T>C
c.4749T>C (p.Ser1583=)
n.4455T>C
n.5205T>C
c.5058T>C (p.Ser1686=)
c.4251T>C (p.Ser1417=)
c.552T>C (p.Ser184=)
c.4638T>C (p.Ser1546=)
c.4002T>C (p.Ser1334=)
c.792T>C (p.Ser264=)
 gnomAD v4
5g.177260080T>GCA362303026NSD1c.4185T>G (p.Ser1395Arg)
n.4641T>G
c.4749T>G (p.Ser1583Arg)
n.4455T>G
n.5205T>G
c.5058T>G (p.Ser1686Arg)
c.4251T>G (p.Ser1417Arg)
c.552T>G (p.Ser184Arg)
c.4638T>G (p.Ser1546Arg)
c.4002T>G (p.Ser1334Arg)
c.792T>G (p.Ser264Arg)
5g.177260080_177260083delinsTATCCA1603527131NSD1c.4185_4188delinsTATC (p.Ser1395=)
n.4641_4644delinsTATC
c.4749_4752delinsTATC (p.Ser1583=)
n.4455_4458delinsTATC
n.5205_5208delinsTATC
c.5058_5061delinsTATC (p.Ser1686=)
c.4251_4254delinsTATC (p.Ser1417=)
c.552_555delinsTATC (p.Ser184=)
c.4638_4641delinsTATC (p.Ser1546=)
c.4002_4005delinsTATC (p.Ser1334=)
c.792_795delinsTATC (p.Ser264=)
5g.177260081A>CCA362303029NSD1c.4186A>C (p.Ile1396Leu)
n.4642A>C
c.4750A>C (p.Ile1584Leu)
n.4456A>C
n.5206A>C
c.5059A>C (p.Ile1687Leu)
c.4252A>C (p.Ile1418Leu)
c.553A>C (p.Ile185Leu)
c.4639A>C (p.Ile1547Leu)
c.4003A>C (p.Ile1335Leu)
c.793A>C (p.Ile265Leu)
5g.177260081A>GCA362303030NSD1c.4186A>G (p.Ile1396Val)
n.4642A>G
c.4750A>G (p.Ile1584Val)
n.4456A>G
n.5206A>G
c.5059A>G (p.Ile1687Val)
c.4252A>G (p.Ile1418Val)
c.553A>G (p.Ile185Val)
c.4639A>G (p.Ile1547Val)
c.4003A>G (p.Ile1335Val)
c.793A>G (p.Ile265Val)
 gnomAD v4
5g.177260081A>TCA362303031NSD1c.4186A>T (p.Ile1396Phe)
n.4642A>T
c.4750A>T (p.Ile1584Phe)
n.4456A>T
n.5206A>T
c.5059A>T (p.Ile1687Phe)
c.4252A>T (p.Ile1418Phe)
c.553A>T (p.Ile185Phe)
c.4639A>T (p.Ile1547Phe)
c.4003A>T (p.Ile1335Phe)
c.793A>T (p.Ile265Phe)
5g.177260084_177260086delCA658796685NSD1c.4189_4191del (p.Ile1397del)
n.4645_4647del
c.4753_4755del (p.Ile1585del)
n.4459_4461del
n.5209_5211del
c.5062_5064del (p.Ile1688del)
c.4255_4257del (p.Ile1419del)
c.556_558del (p.Ile186del)
c.4642_4644del (p.Ile1548del)
c.4006_4008del (p.Ile1336del)
c.796_798del (p.Ile266del)
 ClinVar dbSNP
5g.177260082T>ACA362303033NSD1c.4187T>A (p.Ile1396Asn)
n.4643T>A
c.4751T>A (p.Ile1584Asn)
n.4457T>A
n.5207T>A
c.5060T>A (p.Ile1687Asn)
c.4253T>A (p.Ile1418Asn)
c.554T>A (p.Ile185Asn)
c.4640T>A (p.Ile1547Asn)
c.4004T>A (p.Ile1335Asn)
c.794T>A (p.Ile265Asn)
5g.177260082T>CCA362303034NSD1c.4187T>C (p.Ile1396Thr)
n.4643T>C
c.4751T>C (p.Ile1584Thr)
n.4457T>C
n.5207T>C
c.5060T>C (p.Ile1687Thr)
c.4253T>C (p.Ile1418Thr)
c.554T>C (p.Ile185Thr)
c.4640T>C (p.Ile1547Thr)
c.4004T>C (p.Ile1335Thr)
c.794T>C (p.Ile265Thr)
5g.177260082T>GCA362303035NSD1c.4187T>G (p.Ile1396Ser)
n.4643T>G
c.4751T>G (p.Ile1584Ser)
n.4457T>G
n.5207T>G
c.5060T>G (p.Ile1687Ser)
c.4253T>G (p.Ile1418Ser)
c.554T>G (p.Ile185Ser)
c.4640T>G (p.Ile1547Ser)
c.4004T>G (p.Ile1335Ser)
c.794T>G (p.Ile265Ser)
5g.177260083C>ACA447726354NSD1c.4188C>A (p.Ile1396=)
n.4644C>A
c.4752C>A (p.Ile1584=)
n.4458C>A
n.5208C>A
c.5061C>A (p.Ile1687=)
c.4254C>A (p.Ile1418=)
c.555C>A (p.Ile185=)
c.4641C>A (p.Ile1547=)
c.4005C>A (p.Ile1335=)
c.795C>A (p.Ile265=)
5g.177260083C=CA1603527149NSD1c.4188C= (p.Ile1396=)
n.4644C=
c.4752C= (p.Ile1584=)
n.4458C=
n.5208C=
c.5061C= (p.Ile1687=)
c.4254C= (p.Ile1418=)
c.555C= (p.Ile185=)
c.4641C= (p.Ile1547=)
c.4005C= (p.Ile1335=)
c.795C= (p.Ile265=)
5g.177260083C>GCA362303037NSD1c.4188C>G (p.Ile1396Met)
n.4644C>G
c.4752C>G (p.Ile1584Met)
n.4458C>G
n.5208C>G
c.5061C>G (p.Ile1687Met)
c.4254C>G (p.Ile1418Met)
c.555C>G (p.Ile185Met)
c.4641C>G (p.Ile1547Met)
c.4005C>G (p.Ile1335Met)
c.795C>G (p.Ile265Met)
5g.177260083C>TCA3577760NSD1c.4188C>T (p.Ile1396=)
n.4644C>T
c.4752C>T (p.Ile1584=)
n.4458C>T
n.5208C>T
c.5061C>T (p.Ile1687=)
c.4254C>T (p.Ile1418=)
c.555C>T (p.Ile185=)
c.4641C>T (p.Ile1547=)
c.4005C>T (p.Ile1335=)
c.795C>T (p.Ile265=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177260084A>CCA362303043NSD1c.4189A>C (p.Ile1397Leu)
n.4645A>C
c.4753A>C (p.Ile1585Leu)
n.4459A>C
n.5209A>C
c.5062A>C (p.Ile1688Leu)
c.4255A>C (p.Ile1419Leu)
c.556A>C (p.Ile186Leu)
c.4642A>C (p.Ile1548Leu)
c.4006A>C (p.Ile1336Leu)
c.796A>C (p.Ile266Leu)
5g.177260084A>GCA362303040NSD1c.4189A>G (p.Ile1397Val)
n.4645A>G
c.4753A>G (p.Ile1585Val)
n.4459A>G
n.5209A>G
c.5062A>G (p.Ile1688Val)
c.4255A>G (p.Ile1419Val)
c.556A>G (p.Ile186Val)
c.4642A>G (p.Ile1548Val)
c.4006A>G (p.Ile1336Val)
c.796A>G (p.Ile266Val)
 gnomAD v4
5g.177260084A>TCA362303042NSD1c.4189A>T (p.Ile1397Phe)
n.4645A>T
c.4753A>T (p.Ile1585Phe)
n.4459A>T
n.5209A>T
c.5062A>T (p.Ile1688Phe)
c.4255A>T (p.Ile1419Phe)
c.556A>T (p.Ile186Phe)
c.4642A>T (p.Ile1548Phe)
c.4006A>T (p.Ile1336Phe)
c.796A>T (p.Ile266Phe)
5g.177260085T>ACA362303046NSD1c.4190T>A (p.Ile1397Asn)
n.4646T>A
c.4754T>A (p.Ile1585Asn)
n.4460T>A
n.5210T>A
c.5063T>A (p.Ile1688Asn)
c.4256T>A (p.Ile1419Asn)
c.557T>A (p.Ile186Asn)
c.4643T>A (p.Ile1548Asn)
c.4007T>A (p.Ile1336Asn)
c.797T>A (p.Ile266Asn)
5g.177260085T>CCA362303048NSD1c.4190T>C (p.Ile1397Thr)
n.4646T>C
c.4754T>C (p.Ile1585Thr)
n.4460T>C
n.5210T>C
c.5063T>C (p.Ile1688Thr)
c.4256T>C (p.Ile1419Thr)
c.557T>C (p.Ile186Thr)
c.4643T>C (p.Ile1548Thr)
c.4007T>C (p.Ile1336Thr)
c.797T>C (p.Ile266Thr)
5g.177260085T>GCA362303049NSD1c.4190T>G (p.Ile1397Ser)
n.4646T>G
c.4754T>G (p.Ile1585Ser)
n.4460T>G
n.5210T>G
c.5063T>G (p.Ile1688Ser)
c.4256T>G (p.Ile1419Ser)
c.557T>G (p.Ile186Ser)
c.4643T>G (p.Ile1548Ser)
c.4007T>G (p.Ile1336Ser)
c.797T>G (p.Ile266Ser)
5g.177260086C>ACA447726359NSD1c.4191C>A (p.Ile1397=)
n.4647C>A
c.4755C>A (p.Ile1585=)
n.4461C>A
n.5211C>A
c.5064C>A (p.Ile1688=)
c.4257C>A (p.Ile1419=)
c.558C>A (p.Ile186=)
c.4644C>A (p.Ile1548=)
c.4008C>A (p.Ile1336=)
c.798C>A (p.Ile266=)
5g.177260086C>GCA362303050NSD1c.4191C>G (p.Ile1397Met)
n.4647C>G
c.4755C>G (p.Ile1585Met)
n.4461C>G
n.5211C>G
c.5064C>G (p.Ile1688Met)
c.4257C>G (p.Ile1419Met)
c.558C>G (p.Ile186Met)
c.4644C>G (p.Ile1548Met)
c.4008C>G (p.Ile1336Met)
c.798C>G (p.Ile266Met)
5g.177260086C>TCA447726360NSD1c.4191C>T (p.Ile1397=)
n.4647C>T
c.4755C>T (p.Ile1585=)
n.4461C>T
n.5211C>T
c.5064C>T (p.Ile1688=)
c.4257C>T (p.Ile1419=)
c.558C>T (p.Ile186=)
c.4644C>T (p.Ile1548=)
c.4008C>T (p.Ile1336=)
c.798C>T (p.Ile266=)
 dbSNP
5g.177260087T>ACA362303053NSD1c.4192T>A (p.Cys1398Ser)
n.4648T>A
c.4756T>A (p.Cys1586Ser)
n.4462T>A
n.5212T>A
c.5065T>A (p.Cys1689Ser)
c.4258T>A (p.Cys1420Ser)
c.559T>A (p.Cys187Ser)
c.4645T>A (p.Cys1549Ser)
c.4009T>A (p.Cys1337Ser)
c.799T>A (p.Cys267Ser)
5g.177260087T>CCA362303054NSD1c.4192T>C (p.Cys1398Arg)
n.4648T>C
c.4756T>C (p.Cys1586Arg)
n.4462T>C
n.5212T>C
c.5065T>C (p.Cys1689Arg)
c.4258T>C (p.Cys1420Arg)
c.559T>C (p.Cys187Arg)
c.4645T>C (p.Cys1549Arg)
c.4009T>C (p.Cys1337Arg)
c.799T>C (p.Cys267Arg)
5g.177260087T>GCA362303056NSD1c.4192T>G (p.Cys1398Gly)
n.4648T>G
c.4756T>G (p.Cys1586Gly)
n.4462T>G
n.5212T>G
c.5065T>G (p.Cys1689Gly)
c.4258T>G (p.Cys1420Gly)
c.559T>G (p.Cys187Gly)
c.4645T>G (p.Cys1549Gly)
c.4009T>G (p.Cys1337Gly)
c.799T>G (p.Cys267Gly)
5g.177260088G>ACA362303058NSD1c.4193G>A (p.Cys1398Tyr)
n.4649G>A
c.4757G>A (p.Cys1586Tyr)
n.4463G>A
n.5213G>A
c.5066G>A (p.Cys1689Tyr)
c.4259G>A (p.Cys1420Tyr)
c.560G>A (p.Cys187Tyr)
c.4646G>A (p.Cys1549Tyr)
c.4010G>A (p.Cys1337Tyr)
c.800G>A (p.Cys267Tyr)
5g.177260088G>CCA362303059NSD1c.4193G>C (p.Cys1398Ser)
n.4649G>C
c.4757G>C (p.Cys1586Ser)
n.4463G>C
n.5213G>C
c.5066G>C (p.Cys1689Ser)
c.4259G>C (p.Cys1420Ser)
c.560G>C (p.Cys187Ser)
c.4646G>C (p.Cys1549Ser)
c.4010G>C (p.Cys1337Ser)
c.800G>C (p.Cys267Ser)
 ClinVar dbSNP
5g.177260088G=CA1603527160NSD1c.4193G= (p.Cys1398=)
n.4649G=
c.4757G= (p.Cys1586=)
n.4463G=
n.5213G=
c.5066G= (p.Cys1689=)
c.4259G= (p.Cys1420=)
c.560G= (p.Cys187=)
c.4646G= (p.Cys1549=)
c.4010G= (p.Cys1337=)
c.800G= (p.Cys267=)
5g.177260088G>TCA362303060NSD1c.4193G>T (p.Cys1398Phe)
n.4649G>T
c.4757G>T (p.Cys1586Phe)
n.4463G>T
n.5213G>T
c.5066G>T (p.Cys1689Phe)
c.4259G>T (p.Cys1420Phe)
c.560G>T (p.Cys187Phe)
c.4646G>T (p.Cys1549Phe)
c.4010G>T (p.Cys1337Phe)
c.800G>T (p.Cys267Phe)
 ClinVar dbSNP
5g.177260089C>ACA362303061NSD1c.4194C>A (p.Cys1398Ter)
n.4650C>A
c.4758C>A (p.Cys1586Ter)
n.4464C>A
n.5214C>A
c.5067C>A (p.Cys1689Ter)
c.4260C>A (p.Cys1420Ter)
c.561C>A (p.Cys187Ter)
c.4647C>A (p.Cys1549Ter)
c.4011C>A (p.Cys1337Ter)
c.801C>A (p.Cys267Ter)
5g.177260089C=CA1603527163NSD1c.4194C= (p.Cys1398=)
n.4650C=
c.4758C= (p.Cys1586=)
n.4464C=
n.5214C=
c.5067C= (p.Cys1689=)
c.4260C= (p.Cys1420=)
c.561C= (p.Cys187=)
c.4647C= (p.Cys1549=)
c.4011C= (p.Cys1337=)
c.801C= (p.Cys267=)
5g.177260089C>GCA362303062NSD1c.4194C>G (p.Cys1398Trp)
n.4650C>G
c.4758C>G (p.Cys1586Trp)
n.4464C>G
n.5214C>G
c.5067C>G (p.Cys1689Trp)
c.4260C>G (p.Cys1420Trp)
c.561C>G (p.Cys187Trp)
c.4647C>G (p.Cys1549Trp)
c.4011C>G (p.Cys1337Trp)
c.801C>G (p.Cys267Trp)
5g.177260089C>TCA447726362NSD1c.4194C>T (p.Cys1398=)
n.4650C>T
c.4758C>T (p.Cys1586=)
n.4464C>T
n.5214C>T
c.5067C>T (p.Cys1689=)
c.4260C>T (p.Cys1420=)
c.561C>T (p.Cys187=)
c.4647C>T (p.Cys1549=)
c.4011C>T (p.Cys1337=)
c.801C>T (p.Cys267=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177260090C>ACA362303063NSD1c.4195C>A (p.Pro1399Thr)
n.4651C>A
c.4759C>A (p.Pro1587Thr)
n.4465C>A
n.5215C>A
c.5068C>A (p.Pro1690Thr)
c.4261C>A (p.Pro1421Thr)
c.562C>A (p.Pro188Thr)
c.4648C>A (p.Pro1550Thr)
c.4012C>A (p.Pro1338Thr)
c.802C>A (p.Pro268Thr)
 dbSNP
5g.177260090C>GCA362303067NSD1c.4195C>G (p.Pro1399Ala)
n.4651C>G
c.4759C>G (p.Pro1587Ala)
n.4465C>G
n.5215C>G
c.5068C>G (p.Pro1690Ala)
c.4261C>G (p.Pro1421Ala)
c.562C>G (p.Pro188Ala)
c.4648C>G (p.Pro1550Ala)
c.4012C>G (p.Pro1338Ala)
c.802C>G (p.Pro268Ala)
5g.177260090C>TCA362303065NSD1c.4195C>T (p.Pro1399Ser)
n.4651C>T
c.4759C>T (p.Pro1587Ser)
n.4465C>T
n.5215C>T
c.5068C>T (p.Pro1690Ser)
c.4261C>T (p.Pro1421Ser)
c.562C>T (p.Pro188Ser)
c.4648C>T (p.Pro1550Ser)
c.4012C>T (p.Pro1338Ser)
c.802C>T (p.Pro268Ser)
5g.177260091C>ACA362303069NSD1c.4196C>A (p.Pro1399His)
n.4652C>A
c.4760C>A (p.Pro1587His)
n.4466C>A
n.5216C>A
c.5069C>A (p.Pro1690His)
c.4262C>A (p.Pro1421His)
c.563C>A (p.Pro188His)
c.4649C>A (p.Pro1550His)
c.4013C>A (p.Pro1338His)
c.803C>A (p.Pro268His)
5g.177260091C=CA1603527171NSD1c.4196C= (p.Pro1399=)
n.4652C=
c.4760C= (p.Pro1587=)
n.4466C=
n.5216C=
c.5069C= (p.Pro1690=)
c.4262C= (p.Pro1421=)
c.563C= (p.Pro188=)
c.4649C= (p.Pro1550=)
c.4013C= (p.Pro1338=)
c.803C= (p.Pro268=)
5g.177260091C>GCA362303073NSD1c.4196C>G (p.Pro1399Arg)
n.4652C>G
c.4760C>G (p.Pro1587Arg)
n.4466C>G
n.5216C>G
c.5069C>G (p.Pro1690Arg)
c.4262C>G (p.Pro1421Arg)
c.563C>G (p.Pro188Arg)
c.4649C>G (p.Pro1550Arg)
c.4013C>G (p.Pro1338Arg)
c.803C>G (p.Pro268Arg)
 ClinVar dbSNP
5g.177260091C>TCA362303070NSD1c.4196C>T (p.Pro1399Leu)
n.4652C>T
c.4760C>T (p.Pro1587Leu)
n.4466C>T
n.5216C>T
c.5069C>T (p.Pro1690Leu)
c.4262C>T (p.Pro1421Leu)
c.563C>T (p.Pro188Leu)
c.4649C>T (p.Pro1550Leu)
c.4013C>T (p.Pro1338Leu)
c.803C>T (p.Pro268Leu)
 dbSNP
5g.177260092T>ACA447726365NSD1c.4197T>A (p.Pro1399=)
n.4653T>A
c.4761T>A (p.Pro1587=)
n.4467T>A
n.5217T>A
c.5070T>A (p.Pro1690=)
c.4263T>A (p.Pro1421=)
c.564T>A (p.Pro188=)
c.4650T>A (p.Pro1550=)
c.4014T>A (p.Pro1338=)
c.804T>A (p.Pro268=)
5g.177260092T>CCA447726366NSD1c.4197T>C (p.Pro1399=)
n.4653T>C
c.4761T>C (p.Pro1587=)
n.4467T>C
n.5217T>C
c.5070T>C (p.Pro1690=)
c.4263T>C (p.Pro1421=)
c.564T>C (p.Pro188=)
c.4650T>C (p.Pro1550=)
c.4014T>C (p.Pro1338=)
c.804T>C (p.Pro268=)
 dbSNP
5g.177260092T>GCA447726369NSD1c.4197T>G (p.Pro1399=)
n.4653T>G
c.4761T>G (p.Pro1587=)
n.4467T>G
n.5217T>G
c.5070T>G (p.Pro1690=)
c.4263T>G (p.Pro1421=)
c.564T>G (p.Pro188=)
c.4650T>G (p.Pro1550=)
c.4014T>G (p.Pro1338=)
c.804T>G (p.Pro268=)
5g.177260092T=CA1603527181NSD1c.4197T= (p.Pro1399=)
n.4653T=
c.4761T= (p.Pro1587=)
n.4467T=
n.5217T=
c.5070T= (p.Pro1690=)
c.4263T= (p.Pro1421=)
c.564T= (p.Pro188=)
c.4650T= (p.Pro1550=)
c.4014T= (p.Pro1338=)
c.804T= (p.Pro268=)
5g.177260093A>CCA362303075NSD1c.4198A>C (p.Asn1400His)
n.4654A>C
c.4762A>C (p.Asn1588His)
n.4468A>C
n.5218A>C
c.5071A>C (p.Asn1691His)
c.4264A>C (p.Asn1422His)
c.565A>C (p.Asn189His)
c.4651A>C (p.Asn1551His)
c.4015A>C (p.Asn1339His)
c.805A>C (p.Asn269His)
5g.177260093A>GCA362303076NSD1c.4198A>G (p.Asn1400Asp)
n.4654A>G
c.4762A>G (p.Asn1588Asp)
n.4468A>G
n.5218A>G
c.5071A>G (p.Asn1691Asp)
c.4264A>G (p.Asn1422Asp)
c.565A>G (p.Asn189Asp)
c.4651A>G (p.Asn1551Asp)
c.4015A>G (p.Asn1339Asp)
c.805A>G (p.Asn269Asp)
5g.177260093A>TCA362303077NSD1c.4198A>T (p.Asn1400Tyr)
n.4654A>T
c.4762A>T (p.Asn1588Tyr)
n.4468A>T
n.5218A>T
c.5071A>T (p.Asn1691Tyr)
c.4264A>T (p.Asn1422Tyr)
c.565A>T (p.Asn189Tyr)
c.4651A>T (p.Asn1551Tyr)
c.4015A>T (p.Asn1339Tyr)
c.805A>T (p.Asn269Tyr)
5g.177260094A>CCA362303078NSD1c.4199A>C (p.Asn1400Thr)
n.4655A>C
c.4763A>C (p.Asn1588Thr)
n.4469A>C
n.5219A>C
c.5072A>C (p.Asn1691Thr)
c.4265A>C (p.Asn1422Thr)
c.566A>C (p.Asn189Thr)
c.4652A>C (p.Asn1551Thr)
c.4016A>C (p.Asn1339Thr)
c.806A>C (p.Asn269Thr)
5g.177260094A>GCA362303080NSD1c.4199A>G (p.Asn1400Ser)
n.4655A>G
c.4763A>G (p.Asn1588Ser)
n.4469A>G
n.5219A>G
c.5072A>G (p.Asn1691Ser)
c.4265A>G (p.Asn1422Ser)
c.566A>G (p.Asn189Ser)
c.4652A>G (p.Asn1551Ser)
c.4016A>G (p.Asn1339Ser)
c.806A>G (p.Asn269Ser)
5g.177260094A>TCA362303082NSD1c.4199A>T (p.Asn1400Ile)
n.4655A>T
c.4763A>T (p.Asn1588Ile)
n.4469A>T
n.5219A>T
c.5072A>T (p.Asn1691Ile)
c.4265A>T (p.Asn1422Ile)
c.566A>T (p.Asn189Ile)
c.4652A>T (p.Asn1551Ile)
c.4016A>T (p.Asn1339Ile)
c.806A>T (p.Asn269Ile)
5g.177260095T>ACA362303084NSD1c.4200T>A (p.Asn1400Lys)
n.4656T>A
c.4764T>A (p.Asn1588Lys)
n.4470T>A
n.5220T>A
c.5073T>A (p.Asn1691Lys)
c.4266T>A (p.Asn1422Lys)
c.567T>A (p.Asn189Lys)
c.4653T>A (p.Asn1551Lys)
c.4017T>A (p.Asn1339Lys)
c.807T>A (p.Asn269Lys)
5g.177260095T>CCA447726372NSD1c.4200T>C (p.Asn1400=)
n.4656T>C
c.4764T>C (p.Asn1588=)
n.4470T>C
n.5220T>C
c.5073T>C (p.Asn1691=)
c.4266T>C (p.Asn1422=)
c.567T>C (p.Asn189=)
c.4653T>C (p.Asn1551=)
c.4017T>C (p.Asn1339=)
c.807T>C (p.Asn269=)
5g.177260095T>GCA362303086NSD1c.4200T>G (p.Asn1400Lys)
n.4656T>G
c.4764T>G (p.Asn1588Lys)
n.4470T>G
n.5220T>G
c.5073T>G (p.Asn1691Lys)
c.4266T>G (p.Asn1422Lys)
c.567T>G (p.Asn189Lys)
c.4653T>G (p.Asn1551Lys)
c.4017T>G (p.Asn1339Lys)
c.807T>G (p.Asn269Lys)
5g.177260096C>ACA362303089NSD1c.4201C>A (p.His1401Asn)
n.4657C>A
c.4765C>A (p.His1589Asn)
n.4471C>A
n.5221C>A
c.5074C>A (p.His1692Asn)
c.4267C>A (p.His1423Asn)
c.568C>A (p.His190Asn)
c.4654C>A (p.His1552Asn)
c.4018C>A (p.His1340Asn)
c.808C>A (p.His270Asn)
5g.177260096C>GCA362303090NSD1c.4201C>G (p.His1401Asp)
n.4657C>G
c.4765C>G (p.His1589Asp)
n.4471C>G
n.5221C>G
c.5074C>G (p.His1692Asp)
c.4267C>G (p.His1423Asp)
c.568C>G (p.His190Asp)
c.4654C>G (p.His1552Asp)
c.4018C>G (p.His1340Asp)
c.808C>G (p.His270Asp)
5g.177260096C>TCA362303092NSD1c.4201C>T (p.His1401Tyr)
n.4657C>T
c.4765C>T (p.His1589Tyr)
n.4471C>T
n.5221C>T
c.5074C>T (p.His1692Tyr)
c.4267C>T (p.His1423Tyr)
c.568C>T (p.His190Tyr)
c.4654C>T (p.His1552Tyr)
c.4018C>T (p.His1340Tyr)
c.808C>T (p.His270Tyr)
5g.177260097A>CCA362303099NSD1c.4202A>C (p.His1401Pro)
n.4658A>C
c.4766A>C (p.His1589Pro)
n.4472A>C
n.5222A>C
c.5075A>C (p.His1692Pro)
c.4268A>C (p.His1423Pro)
c.569A>C (p.His190Pro)
c.4655A>C (p.His1552Pro)
c.4019A>C (p.His1340Pro)
c.809A>C (p.His270Pro)
5g.177260097A>GCA362303096NSD1c.4202A>G (p.His1401Arg)
n.4658A>G
c.4766A>G (p.His1589Arg)
n.4472A>G
n.5222A>G
c.5075A>G (p.His1692Arg)
c.4268A>G (p.His1423Arg)
c.569A>G (p.His190Arg)
c.4655A>G (p.His1552Arg)
c.4019A>G (p.His1340Arg)
c.809A>G (p.His270Arg)
5g.177260097A>TCA362303098NSD1c.4202A>T (p.His1401Leu)
n.4658A>T
c.4766A>T (p.His1589Leu)
n.4472A>T
n.5222A>T
c.5075A>T (p.His1692Leu)
c.4268A>T (p.His1423Leu)
c.569A>T (p.His190Leu)
c.4655A>T (p.His1552Leu)
c.4019A>T (p.His1340Leu)
c.809A>T (p.His270Leu)
5g.177260098C>ACA362303102NSD1c.4203C>A (p.His1401Gln)
n.4659C>A
c.4767C>A (p.His1589Gln)
n.4473C>A
n.5223C>A
c.5076C>A (p.His1692Gln)
c.4269C>A (p.His1423Gln)
c.570C>A (p.His190Gln)
c.4656C>A (p.His1552Gln)
c.4020C>A (p.His1340Gln)
c.810C>A (p.His270Gln)
5g.177260098C=CA1603527187NSD1c.4203C= (p.His1401=)
n.4659C=
c.4767C= (p.His1589=)
n.4473C=
n.5223C=
c.5076C= (p.His1692=)
c.4269C= (p.His1423=)
c.570C= (p.His190=)
c.4656C= (p.His1552=)
c.4020C= (p.His1340=)
c.810C= (p.His270=)
5g.177260098C>GCA362303104NSD1c.4203C>G (p.His1401Gln)
n.4659C>G
c.4767C>G (p.His1589Gln)
n.4473C>G
n.5223C>G
c.5076C>G (p.His1692Gln)
c.4269C>G (p.His1423Gln)
c.570C>G (p.His190Gln)
c.4656C>G (p.His1552Gln)
c.4020C>G (p.His1340Gln)
c.810C>G (p.His270Gln)
5g.177260098C>TCA447726376NSD1c.4203C>T (p.His1401=)
n.4659C>T
c.4767C>T (p.His1589=)
n.4473C>T
n.5223C>T
c.5076C>T (p.His1692=)
c.4269C>T (p.His1423=)
c.570C>T (p.His190=)
c.4656C>T (p.His1552=)
c.4020C>T (p.His1340=)
c.810C>T (p.His270=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177260099T>ACA362303106NSD1c.4204T>A (p.Phe1402Ile)
n.4660T>A
c.4768T>A (p.Phe1590Ile)
n.4474T>A
n.5224T>A
c.5077T>A (p.Phe1693Ile)
c.4270T>A (p.Phe1424Ile)
c.571T>A (p.Phe191Ile)
c.4657T>A (p.Phe1553Ile)
c.4021T>A (p.Phe1341Ile)
c.811T>A (p.Phe271Ile)
5g.177260099T>CCA362303108NSD1c.4204T>C (p.Phe1402Leu)
n.4660T>C
c.4768T>C (p.Phe1590Leu)
n.4474T>C
n.5224T>C
c.5077T>C (p.Phe1693Leu)
c.4270T>C (p.Phe1424Leu)
c.571T>C (p.Phe191Leu)
c.4657T>C (p.Phe1553Leu)
c.4021T>C (p.Phe1341Leu)
c.811T>C (p.Phe271Leu)
5g.177260099T>GCA362303110NSD1c.4204T>G (p.Phe1402Val)
n.4660T>G
c.4768T>G (p.Phe1590Val)
n.4474T>G
n.5224T>G
c.5077T>G (p.Phe1693Val)
c.4270T>G (p.Phe1424Val)
c.571T>G (p.Phe191Val)
c.4657T>G (p.Phe1553Val)
c.4021T>G (p.Phe1341Val)
c.811T>G (p.Phe271Val)
5g.177260100T>ACA362303111NSD1c.4205T>A (p.Phe1402Tyr)
n.4661T>A
c.4769T>A (p.Phe1590Tyr)
n.4475T>A
n.5225T>A
c.5078T>A (p.Phe1693Tyr)
c.4271T>A (p.Phe1424Tyr)
c.572T>A (p.Phe191Tyr)
c.4658T>A (p.Phe1553Tyr)
c.4022T>A (p.Phe1341Tyr)
c.812T>A (p.Phe271Tyr)
5g.177260100T>CCA362303113NSD1c.4205T>C (p.Phe1402Ser)
n.4661T>C
c.4769T>C (p.Phe1590Ser)
n.4475T>C
n.5225T>C
c.5078T>C (p.Phe1693Ser)
c.4271T>C (p.Phe1424Ser)
c.572T>C (p.Phe191Ser)
c.4658T>C (p.Phe1553Ser)
c.4022T>C (p.Phe1341Ser)
c.812T>C (p.Phe271Ser)
5g.177260100T>GCA362303114NSD1c.4205T>G (p.Phe1402Cys)
n.4661T>G
c.4769T>G (p.Phe1590Cys)
n.4475T>G
n.5225T>G
c.5078T>G (p.Phe1693Cys)
c.4271T>G (p.Phe1424Cys)
c.572T>G (p.Phe191Cys)
c.4658T>G (p.Phe1553Cys)
c.4022T>G (p.Phe1341Cys)
c.812T>G (p.Phe271Cys)
5g.177260101T>ACA362303117NSD1c.4206T>A (p.Phe1402Leu)
n.4662T>A
c.4770T>A (p.Phe1590Leu)
n.4476T>A
n.5226T>A
c.5079T>A (p.Phe1693Leu)
c.4272T>A (p.Phe1424Leu)
c.573T>A (p.Phe191Leu)
c.4659T>A (p.Phe1553Leu)
c.4023T>A (p.Phe1341Leu)
c.813T>A (p.Phe271Leu)
5g.177260101T>CCA447726382NSD1c.4206T>C (p.Phe1402=)
n.4662T>C
c.4770T>C (p.Phe1590=)
n.4476T>C
n.5226T>C
c.5079T>C (p.Phe1693=)
c.4272T>C (p.Phe1424=)
c.573T>C (p.Phe191=)
c.4659T>C (p.Phe1553=)
c.4023T>C (p.Phe1341=)
c.813T>C (p.Phe271=)
5g.177260101T>GCA362303119NSD1c.4206T>G (p.Phe1402Leu)
n.4662T>G
c.4770T>G (p.Phe1590Leu)
n.4476T>G
n.5226T>G
c.5079T>G (p.Phe1693Leu)
c.4272T>G (p.Phe1424Leu)
c.573T>G (p.Phe191Leu)
c.4659T>G (p.Phe1553Leu)
c.4023T>G (p.Phe1341Leu)
c.813T>G (p.Phe271Leu)
5g.177260102A=CA1603527195NSD1c.4207A= (p.Thr1403=)
n.4663A=
c.4771A= (p.Thr1591=)
n.4477A=
n.5227A=
c.5080A= (p.Thr1694=)
c.4273A= (p.Thr1425=)
c.574A= (p.Thr192=)
c.4660A= (p.Thr1554=)
c.4024A= (p.Thr1342=)
c.814A= (p.Thr272=)
5g.177260102A>CCA362303123NSD1c.4207A>C (p.Thr1403Pro)
n.4663A>C
c.4771A>C (p.Thr1591Pro)
n.4477A>C
n.5227A>C
c.5080A>C (p.Thr1694Pro)
c.4273A>C (p.Thr1425Pro)
c.574A>C (p.Thr192Pro)
c.4660A>C (p.Thr1554Pro)
c.4024A>C (p.Thr1342Pro)
c.814A>C (p.Thr272Pro)
 dbSNP
5g.177260102A>GCA362303125NSD1c.4207A>G (p.Thr1403Ala)
n.4663A>G
c.4771A>G (p.Thr1591Ala)
n.4477A>G
n.5227A>G
c.5080A>G (p.Thr1694Ala)
c.4273A>G (p.Thr1425Ala)
c.574A>G (p.Thr192Ala)
c.4660A>G (p.Thr1554Ala)
c.4024A>G (p.Thr1342Ala)
c.814A>G (p.Thr272Ala)
5g.177260102A>TCA362303122NSD1c.4207A>T (p.Thr1403Ser)
n.4663A>T
c.4771A>T (p.Thr1591Ser)
n.4477A>T
n.5227A>T
c.5080A>T (p.Thr1694Ser)
c.4273A>T (p.Thr1425Ser)
c.574A>T (p.Thr192Ser)
c.4660A>T (p.Thr1554Ser)
c.4024A>T (p.Thr1342Ser)
c.814A>T (p.Thr272Ser)
5g.177260103C>ACA362303127NSD1c.4208C>A (p.Thr1403Asn)
n.4664C>A
c.4772C>A (p.Thr1591Asn)
n.4478C>A
n.5228C>A
c.5081C>A (p.Thr1694Asn)
c.4274C>A (p.Thr1425Asn)
c.575C>A (p.Thr192Asn)
c.4661C>A (p.Thr1554Asn)
c.4025C>A (p.Thr1342Asn)
c.815C>A (p.Thr272Asn)
5g.177260103C=CA1603527202NSD1c.4208C= (p.Thr1403=)
n.4664C=
c.4772C= (p.Thr1591=)
n.4478C=
n.5228C=
c.5081C= (p.Thr1694=)
c.4274C= (p.Thr1425=)
c.575C= (p.Thr192=)
c.4661C= (p.Thr1554=)
c.4025C= (p.Thr1342=)
c.815C= (p.Thr272=)
5g.177260103C>GCA362303129NSD1c.4208C>G (p.Thr1403Ser)
n.4664C>G
c.4772C>G (p.Thr1591Ser)
n.4478C>G
n.5228C>G
c.5081C>G (p.Thr1694Ser)
c.4274C>G (p.Thr1425Ser)
c.575C>G (p.Thr192Ser)
c.4661C>G (p.Thr1554Ser)
c.4025C>G (p.Thr1342Ser)
c.815C>G (p.Thr272Ser)
5g.177260103C>TCA132830153NSD1c.4208C>T (p.Thr1403Ile)
n.4664C>T
c.4772C>T (p.Thr1591Ile)
n.4478C>T
n.5228C>T
c.5081C>T (p.Thr1694Ile)
c.4274C>T (p.Thr1425Ile)
c.575C>T (p.Thr192Ile)
c.4661C>T (p.Thr1554Ile)
c.4025C>T (p.Thr1342Ile)
c.815C>T (p.Thr272Ile)
 dbSNP gnomAD v4
5g.177260106delCA2695205809NSD1c.4211del (p.Pro1404LeufsTer?)
n.4667del
c.4775del (p.Pro1592LeufsTer?)
n.4481del
n.5231del
c.5084del (p.Pro1695LeufsTer?)
c.4277del (p.Pro1426LeufsTer?)
c.578del (p.Pro193LeufsTer?)
c.4664del (p.Pro1555LeufsTer?)
c.4028del (p.Pro1343LeufsTer?)
c.818del (p.Pro273LeufsTer?)
5g.177260104C>ACA447726386NSD1c.4209C>A (p.Thr1403=)
n.4665C>A
c.4773C>A (p.Thr1591=)
n.4479C>A
n.5229C>A
c.5082C>A (p.Thr1694=)
c.4275C>A (p.Thr1425=)
c.576C>A (p.Thr192=)
c.4662C>A (p.Thr1554=)
c.4026C>A (p.Thr1342=)
c.816C>A (p.Thr272=)
5g.177260104C=CA1603527210NSD1c.4209C= (p.Thr1403=)
n.4665C=
c.4773C= (p.Thr1591=)
n.4479C=
n.5229C=
c.5082C= (p.Thr1694=)
c.4275C= (p.Thr1425=)
c.576C= (p.Thr192=)
c.4662C= (p.Thr1554=)
c.4026C= (p.Thr1342=)
c.816C= (p.Thr272=)
5g.177260104C>GCA447726387NSD1c.4209C>G (p.Thr1403=)
n.4665C>G
c.4773C>G (p.Thr1591=)
n.4479C>G
n.5229C>G
c.5082C>G (p.Thr1694=)
c.4275C>G (p.Thr1425=)
c.576C>G (p.Thr192=)
c.4662C>G (p.Thr1554=)
c.4026C>G (p.Thr1342=)
c.816C>G (p.Thr272=)
5g.177260104C>TCA172837NSD1c.4209C>T (p.Thr1403=)
n.4665C>T
c.4773C>T (p.Thr1591=)
n.4479C>T
n.5229C>T
c.5082C>T (p.Thr1694=)
c.4275C>T (p.Thr1425=)
c.576C>T (p.Thr192=)
c.4662C>T (p.Thr1554=)
c.4026C>T (p.Thr1342=)
c.816C>T (p.Thr272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177260105C>ACA362303134NSD1c.4210C>A (p.Pro1404Thr)
n.4666C>A
c.4774C>A (p.Pro1592Thr)
n.4480C>A
n.5230C>A
c.5083C>A (p.Pro1695Thr)
c.4276C>A (p.Pro1426Thr)
c.577C>A (p.Pro193Thr)
c.4663C>A (p.Pro1555Thr)
c.4027C>A (p.Pro1343Thr)
c.817C>A (p.Pro273Thr)
5g.177260105C>GCA362303136NSD1c.4210C>G (p.Pro1404Ala)
n.4666C>G
c.4774C>G (p.Pro1592Ala)
n.4480C>G
n.5230C>G
c.5083C>G (p.Pro1695Ala)
c.4276C>G (p.Pro1426Ala)
c.577C>G (p.Pro193Ala)
c.4663C>G (p.Pro1555Ala)
c.4027C>G (p.Pro1343Ala)
c.817C>G (p.Pro273Ala)
5g.177260105C>TCA362303138NSD1c.4210C>T (p.Pro1404Ser)
n.4666C>T
c.4774C>T (p.Pro1592Ser)
n.4480C>T
n.5230C>T
c.5083C>T (p.Pro1695Ser)
c.4276C>T (p.Pro1426Ser)
c.577C>T (p.Pro193Ser)
c.4663C>T (p.Pro1555Ser)
c.4027C>T (p.Pro1343Ser)
c.817C>T (p.Pro273Ser)
5g.177260106C>ACA362303140NSD1c.4211C>A (p.Pro1404His)
n.4667C>A
c.4775C>A (p.Pro1592His)
n.4481C>A
n.5231C>A
c.5084C>A (p.Pro1695His)
c.4277C>A (p.Pro1426His)
c.578C>A (p.Pro193His)
c.4664C>A (p.Pro1555His)
c.4028C>A (p.Pro1343His)
c.818C>A (p.Pro273His)
 dbSNP
5g.177260106C=CA1603527222NSD1c.4211C= (p.Pro1404=)
n.4667C=
c.4775C= (p.Pro1592=)
n.4481C=
n.5231C=
c.5084C= (p.Pro1695=)
c.4277C= (p.Pro1426=)
c.578C= (p.Pro193=)
c.4664C= (p.Pro1555=)
c.4028C= (p.Pro1343=)
c.818C= (p.Pro273=)
5g.177260106C>GCA362303142NSD1c.4211C>G (p.Pro1404Arg)
n.4667C>G
c.4775C>G (p.Pro1592Arg)
n.4481C>G
n.5231C>G
c.5084C>G (p.Pro1695Arg)
c.4277C>G (p.Pro1426Arg)
c.578C>G (p.Pro193Arg)
c.4664C>G (p.Pro1555Arg)
c.4028C>G (p.Pro1343Arg)
c.818C>G (p.Pro273Arg)
 gnomAD v4
5g.177260106C>TCA3577761NSD1c.4211C>T (p.Pro1404Leu)
n.4667C>T
c.4775C>T (p.Pro1592Leu)
n.4481C>T
n.5231C>T
c.5084C>T (p.Pro1695Leu)
c.4277C>T (p.Pro1426Leu)
c.578C>T (p.Pro193Leu)
c.4664C>T (p.Pro1555Leu)
c.4028C>T (p.Pro1343Leu)
c.818C>T (p.Pro273Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177260107T>ACA447726391NSD1c.4212T>A (p.Pro1404=)
n.4668T>A
c.4776T>A (p.Pro1592=)
n.4482T>A
n.5232T>A
c.5085T>A (p.Pro1695=)
c.4278T>A (p.Pro1426=)
c.579T>A (p.Pro193=)
c.4665T>A (p.Pro1555=)
c.4029T>A (p.Pro1343=)
c.819T>A (p.Pro273=)
 dbSNP
5g.177260107T>CCA3577762NSD1c.4212T>C (p.Pro1404=)
n.4668T>C
c.4776T>C (p.Pro1592=)
n.4482T>C
n.5232T>C
c.5085T>C (p.Pro1695=)
c.4278T>C (p.Pro1426=)
c.579T>C (p.Pro193=)
c.4665T>C (p.Pro1555=)
c.4029T>C (p.Pro1343=)
c.819T>C (p.Pro273=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177260107T>GCA447726392NSD1c.4212T>G (p.Pro1404=)
n.4668T>G
c.4776T>G (p.Pro1592=)
n.4482T>G
n.5232T>G
c.5085T>G (p.Pro1695=)
c.4278T>G (p.Pro1426=)
c.579T>G (p.Pro193=)
c.4665T>G (p.Pro1555=)
c.4029T>G (p.Pro1343=)
c.819T>G (p.Pro273=)
5g.177260107T=CA1603527226NSD1c.4212T= (p.Pro1404=)
n.4668T=
c.4776T= (p.Pro1592=)
n.4482T=
n.5232T=
c.5085T= (p.Pro1695=)
c.4278T= (p.Pro1426=)
c.579T= (p.Pro193=)
c.4665T= (p.Pro1555=)
c.4029T= (p.Pro1343=)
c.819T= (p.Pro273=)
5g.177260108A=CA1603527229NSD1c.4213A= (p.Arg1405=)
n.4669A=
c.4777A= (p.Arg1593=)
n.4483A=
n.5233A=
c.5086A= (p.Arg1696=)
c.4279A= (p.Arg1427=)
c.580A= (p.Arg194=)
c.4666A= (p.Arg1556=)
c.4030A= (p.Arg1344=)
c.820A= (p.Arg274=)
5g.177260108A>CCA447726394NSD1c.4213A>C (p.Arg1405=)
n.4669A>C
c.4777A>C (p.Arg1593=)
n.4483A>C
n.5233A>C
c.5086A>C (p.Arg1696=)
c.4279A>C (p.Arg1427=)
c.580A>C (p.Arg194=)
c.4666A>C (p.Arg1556=)
c.4030A>C (p.Arg1344=)
c.820A>C (p.Arg274=)
 gnomAD v4
5g.177260108A>GCA3577763NSD1c.4213A>G (p.Arg1405Gly)
n.4669A>G
c.4777A>G (p.Arg1593Gly)
n.4483A>G
n.5233A>G
c.5086A>G (p.Arg1696Gly)
c.4279A>G (p.Arg1427Gly)
c.580A>G (p.Arg194Gly)
c.4666A>G (p.Arg1556Gly)
c.4030A>G (p.Arg1344Gly)
c.820A>G (p.Arg274Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177260108A>TCA362303147NSD1c.4213A>T (p.Arg1405Trp)
n.4669A>T
c.4777A>T (p.Arg1593Trp)
n.4483A>T
n.5233A>T
c.5086A>T (p.Arg1696Trp)
c.4279A>T (p.Arg1427Trp)
c.580A>T (p.Arg194Trp)
c.4666A>T (p.Arg1556Trp)
c.4030A>T (p.Arg1344Trp)
c.820A>T (p.Arg274Trp)
5g.177260109G>ACA362303154NSD1c.4214G>A (p.Arg1405Lys)
n.4670G>A
c.4778G>A (p.Arg1593Lys)
n.4484G>A
n.5234G>A
c.5087G>A (p.Arg1696Lys)
c.4280G>A (p.Arg1427Lys)
c.581G>A (p.Arg194Lys)
c.4667G>A (p.Arg1556Lys)
c.4031G>A (p.Arg1344Lys)
c.821G>A (p.Arg274Lys)
5g.177260109G>CCA362303152NSD1c.4214G>C (p.Arg1405Thr)
n.4670G>C
c.4778G>C (p.Arg1593Thr)
n.4484G>C
n.5234G>C
c.5087G>C (p.Arg1696Thr)
c.4280G>C (p.Arg1427Thr)
c.581G>C (p.Arg194Thr)
c.4667G>C (p.Arg1556Thr)
c.4031G>C (p.Arg1344Thr)
c.821G>C (p.Arg274Thr)
5g.177260109G>TCA362303150NSD1c.4214G>T (p.Arg1405Met)
n.4670G>T
c.4778G>T (p.Arg1593Met)
n.4484G>T
n.5234G>T
c.5087G>T (p.Arg1696Met)
c.4280G>T (p.Arg1427Met)
c.581G>T (p.Arg194Met)
c.4667G>T (p.Arg1556Met)
c.4031G>T (p.Arg1344Met)
c.821G>T (p.Arg274Met)
5g.177260110G>ACA447726399NSD1c.4215G>A (p.Arg1405=)
n.4671G>A
c.4779G>A (p.Arg1593=)
n.4485G>A
n.5235G>A
c.5088G>A (p.Arg1696=)
c.4281G>A (p.Arg1427=)
c.582G>A (p.Arg194=)
c.4668G>A (p.Arg1556=)
c.4032G>A (p.Arg1344=)
c.822G>A (p.Arg274=)
5g.177260110G>CCA362303156NSD1c.4215G>C (p.Arg1405Ser)
n.4671G>C
c.4779G>C (p.Arg1593Ser)
n.4485G>C
n.5235G>C
c.5088G>C (p.Arg1696Ser)
c.4281G>C (p.Arg1427Ser)
c.582G>C (p.Arg194Ser)
c.4668G>C (p.Arg1556Ser)
c.4032G>C (p.Arg1344Ser)
c.822G>C (p.Arg274Ser)
5g.177260110G>TCA362303158NSD1c.4215G>T (p.Arg1405Ser)
n.4671G>T
c.4779G>T (p.Arg1593Ser)
n.4485G>T
n.5235G>T
c.5088G>T (p.Arg1696Ser)
c.4281G>T (p.Arg1427Ser)
c.582G>T (p.Arg194Ser)
c.4668G>T (p.Arg1556Ser)
c.4032G>T (p.Arg1344Ser)
c.822G>T (p.Arg274Ser)
5g.177260111C>ACA447726400NSD1c.4216C>A (p.Arg1406=)
n.4672C>A
c.4780C>A (p.Arg1594=)
n.4486C>A
n.5236C>A
c.5089C>A (p.Arg1697=)
c.4282C>A (p.Arg1428=)
c.583C>A (p.Arg195=)
c.4669C>A (p.Arg1557=)
c.4033C>A (p.Arg1345=)
c.823C>A (p.Arg275=)
5g.177260111C>GCA362303160NSD1c.4216C>G (p.Arg1406Gly)
n.4672C>G
c.4780C>G (p.Arg1594Gly)
n.4486C>G
n.5236C>G
c.5089C>G (p.Arg1697Gly)
c.4282C>G (p.Arg1428Gly)
c.583C>G (p.Arg195Gly)
c.4669C>G (p.Arg1557Gly)
c.4033C>G (p.Arg1345Gly)
c.823C>G (p.Arg275Gly)
 dbSNP
5g.177260111C>TCA362303163NSD1c.4216C>T (p.Arg1406Trp)
n.4672C>T
c.4780C>T (p.Arg1594Trp)
n.4486C>T
n.5236C>T
c.5089C>T (p.Arg1697Trp)
c.4282C>T (p.Arg1428Trp)
c.583C>T (p.Arg195Trp)
c.4669C>T (p.Arg1557Trp)
c.4033C>T (p.Arg1345Trp)
c.823C>T (p.Arg275Trp)
 dbSNP
5g.177260112G>ACA362303164NSD1c.4217G>A (p.Arg1406Gln)
n.4673G>A
c.4781G>A (p.Arg1594Gln)
n.4487G>A
n.5237G>A
c.5090G>A (p.Arg1697Gln)
c.4283G>A (p.Arg1428Gln)
c.584G>A (p.Arg195Gln)
c.4670G>A (p.Arg1557Gln)
c.4034G>A (p.Arg1345Gln)
c.824G>A (p.Arg275Gln)
 dbSNP
5g.177260112G>CCA362303165NSD1c.4217G>C (p.Arg1406Pro)
n.4673G>C
c.4781G>C (p.Arg1594Pro)
n.4487G>C
n.5237G>C
c.5090G>C (p.Arg1697Pro)
c.4283G>C (p.Arg1428Pro)
c.584G>C (p.Arg195Pro)
c.4670G>C (p.Arg1557Pro)
c.4034G>C (p.Arg1345Pro)
c.824G>C (p.Arg275Pro)
5g.177260112G>TCA362303168NSD1c.4217G>T (p.Arg1406Leu)
n.4673G>T
c.4781G>T (p.Arg1594Leu)
n.4487G>T
n.5237G>T
c.5090G>T (p.Arg1697Leu)
c.4283G>T (p.Arg1428Leu)
c.584G>T (p.Arg195Leu)
c.4670G>T (p.Arg1557Leu)
c.4034G>T (p.Arg1345Leu)
c.824G>T (p.Arg275Leu)
5g.177260115delCA645560994NSD1c.4220del (p.Gly1407AlafsTer?)
n.4676del
c.4784del (p.Gly1595AlafsTer?)
n.4490del
n.5240del
c.5093del (p.Gly1698AlafsTer?)
c.4286del (p.Gly1429AlafsTer?)
c.587del (p.Gly196AlafsTer?)
c.4673del (p.Gly1558AlafsTer?)
c.4037del (p.Gly1346AlafsTer?)
c.827del (p.Gly276AlafsTer?)
 COSMIC COSMIC
5g.177260113G>ACA447726403NSD1c.4218G>A (p.Arg1406=)
n.4674G>A
c.4782G>A (p.Arg1594=)
n.4488G>A
n.5238G>A
c.5091G>A (p.Arg1697=)
c.4284G>A (p.Arg1428=)
c.585G>A (p.Arg195=)
c.4671G>A (p.Arg1557=)
c.4035G>A (p.Arg1345=)
c.825G>A (p.Arg275=)
5g.177260113G>CCA447726404NSD1c.4218G>C (p.Arg1406=)
n.4674G>C
c.4782G>C (p.Arg1594=)
n.4488G>C
n.5238G>C
c.5091G>C (p.Arg1697=)
c.4284G>C (p.Arg1428=)
c.585G>C (p.Arg195=)
c.4671G>C (p.Arg1557=)
c.4035G>C (p.Arg1345=)
c.825G>C (p.Arg275=)
5g.177260113G>TCA447726405NSD1c.4218G>T (p.Arg1406=)
n.4674G>T
c.4782G>T (p.Arg1594=)
n.4488G>T
n.5238G>T
c.5091G>T (p.Arg1697=)
c.4284G>T (p.Arg1428=)
c.585G>T (p.Arg195=)
c.4671G>T (p.Arg1557=)
c.4035G>T (p.Arg1345=)
c.825G>T (p.Arg275=)
5g.177260114G>ACA362303170NSD1c.4219G>A (p.Gly1407Ser)
n.4675G>A
c.4783G>A (p.Gly1595Ser)
n.4489G>A
n.5239G>A
c.5092G>A (p.Gly1698Ser)
c.4285G>A (p.Gly1429Ser)
c.586G>A (p.Gly196Ser)
c.4672G>A (p.Gly1558Ser)
c.4036G>A (p.Gly1346Ser)
c.826G>A (p.Gly276Ser)
 dbSNP
5g.177260114G>CCA362303172NSD1c.4219G>C (p.Gly1407Arg)
n.4675G>C
c.4783G>C (p.Gly1595Arg)
n.4489G>C
n.5239G>C
c.5092G>C (p.Gly1698Arg)
c.4285G>C (p.Gly1429Arg)
c.586G>C (p.Gly196Arg)
c.4672G>C (p.Gly1558Arg)
c.4036G>C (p.Gly1346Arg)
c.826G>C (p.Gly276Arg)
5g.177260114G>TCA362303174NSD1c.4219G>T (p.Gly1407Cys)
n.4675G>T
c.4783G>T (p.Gly1595Cys)
n.4489G>T
n.5239G>T
c.5092G>T (p.Gly1698Cys)
c.4285G>T (p.Gly1429Cys)
c.586G>T (p.Gly196Cys)
c.4672G>T (p.Gly1558Cys)
c.4036G>T (p.Gly1346Cys)
c.826G>T (p.Gly276Cys)
5g.177260115G>ACA362303176NSD1c.4220G>A (p.Gly1407Asp)
n.4676G>A
c.4784G>A (p.Gly1595Asp)
n.4490G>A
n.5240G>A
c.5093G>A (p.Gly1698Asp)
c.4286G>A (p.Gly1429Asp)
c.587G>A (p.Gly196Asp)
c.4673G>A (p.Gly1558Asp)
c.4037G>A (p.Gly1346Asp)
c.827G>A (p.Gly276Asp)
 dbSNP
5g.177260115G>CCA362303178NSD1c.4220G>C (p.Gly1407Ala)
n.4676G>C
c.4784G>C (p.Gly1595Ala)
n.4490G>C
n.5240G>C
c.5093G>C (p.Gly1698Ala)
c.4286G>C (p.Gly1429Ala)
c.587G>C (p.Gly196Ala)
c.4673G>C (p.Gly1558Ala)
c.4037G>C (p.Gly1346Ala)
c.827G>C (p.Gly276Ala)
 dbSNP
5g.177260115G>TCA362303180NSD1c.4220G>T (p.Gly1407Val)
n.4676G>T
c.4784G>T (p.Gly1595Val)
n.4490G>T
n.5240G>T
c.5093G>T (p.Gly1698Val)
c.4286G>T (p.Gly1429Val)
c.587G>T (p.Gly196Val)
c.4673G>T (p.Gly1558Val)
c.4037G>T (p.Gly1346Val)
c.827G>T (p.Gly276Val)
 dbSNP
5g.177260116C>ACA447726408NSD1c.4221C>A (p.Gly1407=)
n.4677C>A
c.4785C>A (p.Gly1595=)
n.4491C>A
n.5241C>A
c.5094C>A (p.Gly1698=)
c.4287C>A (p.Gly1429=)
c.588C>A (p.Gly196=)
c.4674C>A (p.Gly1558=)
c.4038C>A (p.Gly1346=)
c.828C>A (p.Gly276=)
5g.177260116C>GCA447726410NSD1c.4221C>G (p.Gly1407=)
n.4677C>G
c.4785C>G (p.Gly1595=)
n.4491C>G
n.5241C>G
c.5094C>G (p.Gly1698=)
c.4287C>G (p.Gly1429=)
c.588C>G (p.Gly196=)
c.4674C>G (p.Gly1558=)
c.4038C>G (p.Gly1346=)
c.828C>G (p.Gly276=)
5g.177260116C>TCA447726411NSD1c.4221C>T (p.Gly1407=)
n.4677C>T
c.4785C>T (p.Gly1595=)
n.4491C>T
n.5241C>T
c.5094C>T (p.Gly1698=)
c.4287C>T (p.Gly1429=)
c.588C>T (p.Gly196=)
c.4674C>T (p.Gly1558=)
c.4038C>T (p.Gly1346=)
c.828C>T (p.Gly276=)
 gnomAD v4
5g.177260117T>ACA362303185NSD1c.4222T>A (p.Cys1408Ser)
n.4678T>A
c.4786T>A (p.Cys1596Ser)
n.4492T>A
n.5242T>A
c.5095T>A (p.Cys1699Ser)
c.4288T>A (p.Cys1430Ser)
c.589T>A (p.Cys197Ser)
c.4675T>A (p.Cys1559Ser)
c.4039T>A (p.Cys1347Ser)
c.829T>A (p.Cys277Ser)
5g.177260117T>CCA362303187NSD1c.4222T>C (p.Cys1408Arg)
n.4678T>C
c.4786T>C (p.Cys1596Arg)
n.4492T>C
n.5242T>C
c.5095T>C (p.Cys1699Arg)
c.4288T>C (p.Cys1430Arg)
c.589T>C (p.Cys197Arg)
c.4675T>C (p.Cys1559Arg)
c.4039T>C (p.Cys1347Arg)
c.829T>C (p.Cys277Arg)
5g.177260117T>GCA362303182NSD1c.4222T>G (p.Cys1408Gly)
n.4678T>G
c.4786T>G (p.Cys1596Gly)
n.4492T>G
n.5242T>G
c.5095T>G (p.Cys1699Gly)
c.4288T>G (p.Cys1430Gly)
c.589T>G (p.Cys197Gly)
c.4675T>G (p.Cys1559Gly)
c.4039T>G (p.Cys1347Gly)
c.829T>G (p.Cys277Gly)
5g.177260118G>ACA362303191NSD1c.4223G>A (p.Cys1408Tyr)
n.4679G>A
c.4787G>A (p.Cys1596Tyr)
n.4493G>A
n.5243G>A
c.5096G>A (p.Cys1699Tyr)
c.4289G>A (p.Cys1430Tyr)
c.590G>A (p.Cys197Tyr)
c.4676G>A (p.Cys1559Tyr)
c.4040G>A (p.Cys1347Tyr)
c.830G>A (p.Cys277Tyr)
 dbSNP gnomAD v4
5g.177260118G>CCA362303189NSD1c.4223G>C (p.Cys1408Ser)
n.4679G>C
c.4787G>C (p.Cys1596Ser)
n.4493G>C
n.5243G>C
c.5096G>C (p.Cys1699Ser)
c.4289G>C (p.Cys1430Ser)
c.590G>C (p.Cys197Ser)
c.4676G>C (p.Cys1559Ser)
c.4040G>C (p.Cys1347Ser)
c.830G>C (p.Cys277Ser)
5g.177260118G>TCA362303193NSD1c.4223G>T (p.Cys1408Phe)
n.4679G>T
c.4787G>T (p.Cys1596Phe)
n.4493G>T
n.5243G>T
c.5096G>T (p.Cys1699Phe)
c.4289G>T (p.Cys1430Phe)
c.590G>T (p.Cys197Phe)
c.4676G>T (p.Cys1559Phe)
c.4040G>T (p.Cys1347Phe)
c.830G>T (p.Cys277Phe)
5g.177260119C>ACA362303195NSD1c.4224C>A (p.Cys1408Ter)
n.4680C>A
c.4788C>A (p.Cys1596Ter)
n.4494C>A
n.5244C>A
c.5097C>A (p.Cys1699Ter)
c.4290C>A (p.Cys1430Ter)
c.591C>A (p.Cys197Ter)
c.4677C>A (p.Cys1559Ter)
c.4041C>A (p.Cys1347Ter)
c.831C>A (p.Cys277Ter)
5g.177260119C>GCA362303197NSD1c.4224C>G (p.Cys1408Trp)
n.4680C>G
c.4788C>G (p.Cys1596Trp)
n.4494C>G
n.5244C>G
c.5097C>G (p.Cys1699Trp)
c.4290C>G (p.Cys1430Trp)
c.591C>G (p.Cys197Trp)
c.4677C>G (p.Cys1559Trp)
c.4041C>G (p.Cys1347Trp)
c.831C>G (p.Cys277Trp)
 dbSNP
5g.177260119C>TCA447726415NSD1c.4224C>T (p.Cys1408=)
n.4680C>T
c.4788C>T (p.Cys1596=)
n.4494C>T
n.5244C>T
c.5097C>T (p.Cys1699=)
c.4290C>T (p.Cys1430=)
c.591C>T (p.Cys197=)
c.4677C>T (p.Cys1559=)
c.4041C>T (p.Cys1347=)
c.831C>T (p.Cys277=)
 dbSNP gnomAD v4
5g.177260120C>ACA447726416NSD1c.4225C>A (p.Arg1409=)
n.4681C>A
c.4789C>A (p.Arg1597=)
n.4495C>A
n.5245C>A
c.5098C>A (p.Arg1700=)
c.4291C>A (p.Arg1431=)
c.592C>A (p.Arg198=)
c.4678C>A (p.Arg1560=)
c.4042C>A (p.Arg1348=)
c.832C>A (p.Arg278=)
 gnomAD v4
5g.177260120C=CA1603527233NSD1c.4225C= (p.Arg1409=)
n.4681C=
c.4789C= (p.Arg1597=)
n.4495C=
n.5245C=
c.5098C= (p.Arg1700=)
c.4291C= (p.Arg1431=)
c.592C= (p.Arg198=)
c.4678C= (p.Arg1560=)
c.4042C= (p.Arg1348=)
c.832C= (p.Arg278=)
5g.177260120C>GCA362303199NSD1c.4225C>G (p.Arg1409Gly)
n.4681C>G
c.4789C>G (p.Arg1597Gly)
n.4495C>G
n.5245C>G
c.5098C>G (p.Arg1700Gly)
c.4291C>G (p.Arg1431Gly)
c.592C>G (p.Arg198Gly)
c.4678C>G (p.Arg1560Gly)
c.4042C>G (p.Arg1348Gly)
c.832C>G (p.Arg278Gly)
5g.177260120C>TCA294933NSD1c.4225C>T (p.Arg1409Ter)
n.4681C>T
c.4789C>T (p.Arg1597Ter)
n.4495C>T
n.5245C>T
c.5098C>T (p.Arg1700Ter)
c.4291C>T (p.Arg1431Ter)
c.592C>T (p.Arg198Ter)
c.4678C>T (p.Arg1560Ter)
c.4042C>T (p.Arg1348Ter)
c.832C>T (p.Arg278Ter)
 ClinVar dbSNP
5g.177260121G>ACA362303202NSD1c.4226G>A (p.Arg1409Gln)
n.4682G>A
c.4790G>A (p.Arg1597Gln)
n.4496G>A
n.5246G>A
c.5099G>A (p.Arg1700Gln)
c.4292G>A (p.Arg1431Gln)
c.593G>A (p.Arg198Gln)
c.4679G>A (p.Arg1560Gln)
c.4043G>A (p.Arg1348Gln)
c.833G>A (p.Arg278Gln)
 dbSNP
5g.177260121G>CCA362303205NSD1c.4226G>C (p.Arg1409Pro)
n.4682G>C
c.4790G>C (p.Arg1597Pro)
n.4496G>C
n.5246G>C
c.5099G>C (p.Arg1700Pro)
c.4292G>C (p.Arg1431Pro)
c.593G>C (p.Arg198Pro)
c.4679G>C (p.Arg1560Pro)
c.4043G>C (p.Arg1348Pro)
c.833G>C (p.Arg278Pro)
5g.177260121G>TCA362303204NSD1c.4226G>T (p.Arg1409Leu)
n.4682G>T
c.4790G>T (p.Arg1597Leu)
n.4496G>T
n.5246G>T
c.5099G>T (p.Arg1700Leu)
c.4292G>T (p.Arg1431Leu)
c.593G>T (p.Arg198Leu)
c.4679G>T (p.Arg1560Leu)
c.4043G>T (p.Arg1348Leu)
c.833G>T (p.Arg278Leu)
5g.177260122A>CCA447726417NSD1c.4227A>C (p.Arg1409=)
n.4683A>C
c.4791A>C (p.Arg1597=)
n.4497A>C
n.5247A>C
c.5100A>C (p.Arg1700=)
c.4293A>C (p.Arg1431=)
c.594A>C (p.Arg198=)
c.4680A>C (p.Arg1560=)
c.4044A>C (p.Arg1348=)
c.834A>C (p.Arg278=)
5g.177260122A>GCA447726418NSD1c.4227A>G (p.Arg1409=)
n.4683A>G
c.4791A>G (p.Arg1597=)
n.4497A>G
n.5247A>G
c.5100A>G (p.Arg1700=)
c.4293A>G (p.Arg1431=)
c.594A>G (p.Arg198=)
c.4680A>G (p.Arg1560=)
c.4044A>G (p.Arg1348=)
c.834A>G (p.Arg278=)
5g.177260122A>TCA447726419NSD1c.4227A>T (p.Arg1409=)
n.4683A>T
c.4791A>T (p.Arg1597=)
n.4497A>T
n.5247A>T
c.5100A>T (p.Arg1700=)
c.4293A>T (p.Arg1431=)
c.594A>T (p.Arg198=)
c.4680A>T (p.Arg1560=)
c.4044A>T (p.Arg1348=)
c.834A>T (p.Arg278=)
5g.177260123A>CCA362303208NSD1c.4228A>C (p.Asn1410His)
n.4684A>C
c.4792A>C (p.Asn1598His)
n.4498A>C
n.5248A>C
c.5101A>C (p.Asn1701His)
c.4294A>C (p.Asn1432His)
c.595A>C (p.Asn199His)
c.4681A>C (p.Asn1561His)
c.4045A>C (p.Asn1349His)
c.835A>C (p.Asn279His)
 gnomAD v4
5g.177260123A>GCA362303210NSD1c.4228A>G (p.Asn1410Asp)
n.4684A>G
c.4792A>G (p.Asn1598Asp)
n.4498A>G
n.5248A>G
c.5101A>G (p.Asn1701Asp)
c.4294A>G (p.Asn1432Asp)
c.595A>G (p.Asn199Asp)
c.4681A>G (p.Asn1561Asp)
c.4045A>G (p.Asn1349Asp)
c.835A>G (p.Asn279Asp)
5g.177260123A>TCA362303211NSD1c.4228A>T (p.Asn1410Tyr)
n.4684A>T
c.4792A>T (p.Asn1598Tyr)
n.4498A>T
n.5248A>T
c.5101A>T (p.Asn1701Tyr)
c.4294A>T (p.Asn1432Tyr)
c.595A>T (p.Asn199Tyr)
c.4681A>T (p.Asn1561Tyr)
c.4045A>T (p.Asn1349Tyr)
c.835A>T (p.Asn279Tyr)
5g.177260124A>CCA362303213NSD1c.4229A>C (p.Asn1410Thr)
n.4685A>C
c.4793A>C (p.Asn1598Thr)
n.4499A>C
n.5249A>C
c.5102A>C (p.Asn1701Thr)
c.4295A>C (p.Asn1432Thr)
c.596A>C (p.Asn199Thr)
c.4682A>C (p.Asn1561Thr)
c.4046A>C (p.Asn1349Thr)
c.836A>C (p.Asn279Thr)
5g.177260124A>GCA362303215NSD1c.4229A>G (p.Asn1410Ser)
n.4685A>G
c.4793A>G (p.Asn1598Ser)
n.4499A>G
n.5249A>G
c.5102A>G (p.Asn1701Ser)
c.4295A>G (p.Asn1432Ser)
c.596A>G (p.Asn199Ser)
c.4682A>G (p.Asn1561Ser)
c.4046A>G (p.Asn1349Ser)
c.836A>G (p.Asn279Ser)
5g.177260124A>TCA362303216NSD1c.4229A>T (p.Asn1410Ile)
n.4685A>T
c.4793A>T (p.Asn1598Ile)
n.4499A>T
n.5249A>T
c.5102A>T (p.Asn1701Ile)
c.4295A>T (p.Asn1432Ile)
c.596A>T (p.Asn199Ile)
c.4682A>T (p.Asn1561Ile)
c.4046A>T (p.Asn1349Ile)
c.836A>T (p.Asn279Ile)
5g.177260125T>ACA362303220NSD1c.4230T>A (p.Asn1410Lys)
n.4686T>A
c.4794T>A (p.Asn1598Lys)
n.4500T>A
n.5250T>A
c.5103T>A (p.Asn1701Lys)
c.4296T>A (p.Asn1432Lys)
c.597T>A (p.Asn199Lys)
c.4683T>A (p.Asn1561Lys)
c.4047T>A (p.Asn1349Lys)
c.837T>A (p.Asn279Lys)
5g.177260125T>CCA3577764NSD1c.4230T>C (p.Asn1410=)
n.4686T>C
c.4794T>C (p.Asn1598=)
n.4500T>C
n.5250T>C
c.5103T>C (p.Asn1701=)
c.4296T>C (p.Asn1432=)
c.597T>C (p.Asn199=)
c.4683T>C (p.Asn1561=)
c.4047T>C (p.Asn1349=)
c.837T>C (p.Asn279=)
 ClinVar dbSNP ExAC gnomAD v4
5g.177260125T>GCA362303219NSD1c.4230T>G (p.Asn1410Lys)
n.4686T>G
c.4794T>G (p.Asn1598Lys)
n.4500T>G
n.5250T>G
c.5103T>G (p.Asn1701Lys)
c.4296T>G (p.Asn1432Lys)
c.597T>G (p.Asn199Lys)
c.4683T>G (p.Asn1561Lys)
c.4047T>G (p.Asn1349Lys)
c.837T>G (p.Asn279Lys)
5g.177260125T=CA1603527244NSD1c.4230T= (p.Asn1410=)
n.4686T=
c.4794T= (p.Asn1598=)
n.4500T=
n.5250T=
c.5103T= (p.Asn1701=)
c.4296T= (p.Asn1432=)
c.597T= (p.Asn199=)
c.4683T= (p.Asn1561=)
c.4047T= (p.Asn1349=)
c.837T= (p.Asn279=)
5g.177260126C>ACA362303223NSD1c.4231C>A (p.His1411Asn)
n.4687C>A
c.4795C>A (p.His1599Asn)
n.4501C>A
n.5251C>A
c.5104C>A (p.His1702Asn)
c.4297C>A (p.His1433Asn)
c.598C>A (p.His200Asn)
c.4684C>A (p.His1562Asn)
c.4048C>A (p.His1350Asn)
c.838C>A (p.His280Asn)
5g.177260126C>GCA362303224NSD1c.4231C>G (p.His1411Asp)
n.4687C>G
c.4795C>G (p.His1599Asp)
n.4501C>G
n.5251C>G
c.5104C>G (p.His1702Asp)
c.4297C>G (p.His1433Asp)
c.598C>G (p.His200Asp)
c.4684C>G (p.His1562Asp)
c.4048C>G (p.His1350Asp)
c.838C>G (p.His280Asp)
5g.177260126C>TCA362303227NSD1c.4231C>T (p.His1411Tyr)
n.4687C>T
c.4795C>T (p.His1599Tyr)
n.4501C>T
n.5251C>T
c.5104C>T (p.His1702Tyr)
c.4297C>T (p.His1433Tyr)
c.598C>T (p.His200Tyr)
c.4684C>T (p.His1562Tyr)
c.4048C>T (p.His1350Tyr)
c.838C>T (p.His280Tyr)
5g.177260127A>CCA362303229NSD1c.4232A>C (p.His1411Pro)
n.4688A>C
c.4796A>C (p.His1599Pro)
n.4502A>C
n.5252A>C
c.5105A>C (p.His1702Pro)
c.4298A>C (p.His1433Pro)
c.599A>C (p.His200Pro)
c.4685A>C (p.His1562Pro)
c.4049A>C (p.His1350Pro)
c.839A>C (p.His280Pro)
5g.177260127A>GCA362303231NSD1c.4232A>G (p.His1411Arg)
n.4688A>G
c.4796A>G (p.His1599Arg)
n.4502A>G
n.5252A>G
c.5105A>G (p.His1702Arg)
c.4298A>G (p.His1433Arg)
c.599A>G (p.His200Arg)
c.4685A>G (p.His1562Arg)
c.4049A>G (p.His1350Arg)
c.839A>G (p.His280Arg)
5g.177260127A>TCA362303233NSD1c.4232A>T (p.His1411Leu)
n.4688A>T
c.4796A>T (p.His1599Leu)
n.4502A>T
n.5252A>T
c.5105A>T (p.His1702Leu)
c.4298A>T (p.His1433Leu)
c.599A>T (p.His200Leu)
c.4685A>T (p.His1562Leu)
c.4049A>T (p.His1350Leu)
c.839A>T (p.His280Leu)
5g.177260128T>ACA362303235NSD1c.4233T>A (p.His1411Gln)
n.4689T>A
c.4797T>A (p.His1599Gln)
n.4503T>A
n.5253T>A
c.5106T>A (p.His1702Gln)
c.4299T>A (p.His1433Gln)
c.600T>A (p.His200Gln)
c.4686T>A (p.His1562Gln)
c.4050T>A (p.His1350Gln)
c.840T>A (p.His280Gln)
 dbSNP
5g.177260128T>CCA3577765NSD1c.4233T>C (p.His1411=)
n.4689T>C
c.4797T>C (p.His1599=)
n.4503T>C
n.5253T>C
c.5106T>C (p.His1702=)
c.4299T>C (p.His1433=)
c.600T>C (p.His200=)
c.4686T>C (p.His1562=)
c.4050T>C (p.His1350=)
c.840T>C (p.His280=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177260128T>GCA362303237NSD1c.4233T>G (p.His1411Gln)
n.4689T>G
c.4797T>G (p.His1599Gln)
n.4503T>G
n.5253T>G
c.5106T>G (p.His1702Gln)
c.4299T>G (p.His1433Gln)
c.600T>G (p.His200Gln)
c.4686T>G (p.His1562Gln)
c.4050T>G (p.His1350Gln)
c.840T>G (p.His280Gln)
 gnomAD v4
5g.177260128T=CA1603527250NSD1c.4233T= (p.His1411=)
n.4689T=
c.4797T= (p.His1599=)
n.4503T=
n.5253T=
c.5106T= (p.His1702=)
c.4299T= (p.His1433=)
c.600T= (p.His200=)
c.4686T= (p.His1562=)
c.4050T= (p.His1350=)
c.840T= (p.His280=)
5g.177260129G>ACA362303240NSD1c.4234G>A (p.Glu1412Lys)
n.4690G>A
c.4798G>A (p.Glu1600Lys)
n.4504G>A
n.5254G>A
c.5107G>A (p.Glu1703Lys)
c.4300G>A (p.Glu1434Lys)
c.601G>A (p.Glu201Lys)
c.4687G>A (p.Glu1563Lys)
c.4051G>A (p.Glu1351Lys)
c.841G>A (p.Glu281Lys)
5g.177260129G>CCA362303243NSD1c.4234G>C (p.Glu1412Gln)
n.4690G>C
c.4798G>C (p.Glu1600Gln)
n.4504G>C
n.5254G>C
c.5107G>C (p.Glu1703Gln)
c.4300G>C (p.Glu1434Gln)
c.601G>C (p.Glu201Gln)
c.4687G>C (p.Glu1563Gln)
c.4051G>C (p.Glu1351Gln)
c.841G>C (p.Glu281Gln)
5g.177260129G>TCA362303244NSD1c.4234G>T (p.Glu1412Ter)
n.4690G>T
c.4798G>T (p.Glu1600Ter)
n.4504G>T
n.5254G>T
c.5107G>T (p.Glu1703Ter)
c.4300G>T (p.Glu1434Ter)
c.601G>T (p.Glu201Ter)
c.4687G>T (p.Glu1563Ter)
c.4051G>T (p.Glu1351Ter)
c.841G>T (p.Glu281Ter)
5g.177260130A>CCA362303246NSD1c.4235A>C (p.Glu1412Ala)
n.4691A>C
c.4799A>C (p.Glu1600Ala)
n.4505A>C
n.5255A>C
c.5108A>C (p.Glu1703Ala)
c.4301A>C (p.Glu1434Ala)
c.602A>C (p.Glu201Ala)
c.4688A>C (p.Glu1563Ala)
c.4052A>C (p.Glu1351Ala)
c.842A>C (p.Glu281Ala)
5g.177260130A>GCA362303248NSD1c.4235A>G (p.Glu1412Gly)
n.4691A>G
c.4799A>G (p.Glu1600Gly)
n.4505A>G
n.5255A>G
c.5108A>G (p.Glu1703Gly)
c.4301A>G (p.Glu1434Gly)
c.602A>G (p.Glu201Gly)
c.4688A>G (p.Glu1563Gly)
c.4052A>G (p.Glu1351Gly)
c.842A>G (p.Glu281Gly)
5g.177260130A>TCA362303250NSD1c.4235A>T (p.Glu1412Val)
n.4691A>T
c.4799A>T (p.Glu1600Val)
n.4505A>T
n.5255A>T
c.5108A>T (p.Glu1703Val)
c.4301A>T (p.Glu1434Val)
c.602A>T (p.Glu201Val)
c.4688A>T (p.Glu1563Val)
c.4052A>T (p.Glu1351Val)
c.842A>T (p.Glu281Val)
5g.177260131G>ACA447726420NSD1c.4236G>A (p.Glu1412=)
n.4692G>A
c.4800G>A (p.Glu1600=)
n.4506G>A
n.5256G>A
c.5109G>A (p.Glu1703=)
c.4302G>A (p.Glu1434=)
c.603G>A (p.Glu201=)
c.4689G>A (p.Glu1563=)
c.4053G>A (p.Glu1351=)
c.843G>A (p.Glu281=)
 dbSNP
5g.177260131G>CCA362303252NSD1c.4236G>C (p.Glu1412Asp)
n.4692G>C
c.4800G>C (p.Glu1600Asp)
n.4506G>C
n.5256G>C
c.5109G>C (p.Glu1703Asp)
c.4302G>C (p.Glu1434Asp)
c.603G>C (p.Glu201Asp)
c.4689G>C (p.Glu1563Asp)
c.4053G>C (p.Glu1351Asp)
c.843G>C (p.Glu281Asp)
5g.177260131G=CA1603527255NSD1c.4236G= (p.Glu1412=)
n.4692G=
c.4800G= (p.Glu1600=)
n.4506G=
n.5256G=
c.5109G= (p.Glu1703=)
c.4302G= (p.Glu1434=)
c.603G= (p.Glu201=)
c.4689G= (p.Glu1563=)
c.4053G= (p.Glu1351=)
c.843G= (p.Glu281=)
5g.177260131G>TCA362303255NSD1c.4236G>T (p.Glu1412Asp)
n.4692G>T
c.4800G>T (p.Glu1600Asp)
n.4506G>T
n.5256G>T
c.5109G>T (p.Glu1703Asp)
c.4302G>T (p.Glu1434Asp)
c.603G>T (p.Glu201Asp)
c.4689G>T (p.Glu1563Asp)
c.4053G>T (p.Glu1351Asp)
c.843G>T (p.Glu281Asp)
 gnomAD v4
5g.177260132C>ACA362303257NSD1c.4237C>A (p.His1413Asn)
n.4693C>A
c.4801C>A (p.His1601Asn)
n.4507C>A
n.5257C>A
c.5110C>A (p.His1704Asn)
c.4303C>A (p.His1435Asn)
c.604C>A (p.His202Asn)
c.4690C>A (p.His1564Asn)
c.4054C>A (p.His1352Asn)
c.844C>A (p.His282Asn)
5g.177260132C>GCA362303260NSD1c.4237C>G (p.His1413Asp)
n.4693C>G
c.4801C>G (p.His1601Asp)
n.4507C>G
n.5257C>G
c.5110C>G (p.His1704Asp)
c.4303C>G (p.His1435Asp)
c.604C>G (p.His202Asp)
c.4690C>G (p.His1564Asp)
c.4054C>G (p.His1352Asp)
c.844C>G (p.His282Asp)
5g.177260132C>TCA362303261NSD1c.4237C>T (p.His1413Tyr)
n.4693C>T
c.4801C>T (p.His1601Tyr)
n.4507C>T
n.5257C>T
c.5110C>T (p.His1704Tyr)
c.4303C>T (p.His1435Tyr)
c.604C>T (p.His202Tyr)
c.4690C>T (p.His1564Tyr)
c.4054C>T (p.His1352Tyr)
c.844C>T (p.His282Tyr)
5g.177260132dupCA16618179NSD1c.4237dup (p.His1413ProfsTer3)
n.4693dup
c.4801dup (p.His1601ProfsTer3)
n.4507dup
n.5257dup
c.5110dup (p.His1704ProfsTer3)
c.4303dup (p.His1435ProfsTer3)
c.604dup (p.His202ProfsTer3)
c.4690dup (p.His1564ProfsTer3)
c.4054dup (p.His1352ProfsTer3)
c.844dup (p.His282ProfsTer3)
 ClinVar dbSNP
5g.177260133A>CCA362303264NSD1c.4238A>C (p.His1413Pro)
n.4694A>C
c.4802A>C (p.His1601Pro)
n.4508A>C
n.5258A>C
c.5111A>C (p.His1704Pro)
c.4304A>C (p.His1435Pro)
c.605A>C (p.His202Pro)
c.4691A>C (p.His1564Pro)
c.4055A>C (p.His1352Pro)
c.845A>C (p.His282Pro)
5g.177260133A>GCA362303268NSD1c.4238A>G (p.His1413Arg)
n.4694A>G
c.4802A>G (p.His1601Arg)
n.4508A>G
n.5258A>G
c.5111A>G (p.His1704Arg)
c.4304A>G (p.His1435Arg)
c.605A>G (p.His202Arg)
c.4691A>G (p.His1564Arg)
c.4055A>G (p.His1352Arg)
c.845A>G (p.His282Arg)
5g.177260133A>TCA362303265NSD1c.4238A>T (p.His1413Leu)
n.4694A>T
c.4802A>T (p.His1601Leu)
n.4508A>T
n.5258A>T
c.5111A>T (p.His1704Leu)
c.4304A>T (p.His1435Leu)
c.605A>T (p.His202Leu)
c.4691A>T (p.His1564Leu)
c.4055A>T (p.His1352Leu)
c.845A>T (p.His282Leu)
5g.177260134T>ACA362303270NSD1c.4239T>A (p.His1413Gln)
n.4695T>A
c.4803T>A (p.His1601Gln)
n.4509T>A
n.5259T>A
c.5112T>A (p.His1704Gln)
c.4305T>A (p.His1435Gln)
c.606T>A (p.His202Gln)
c.4692T>A (p.His1564Gln)
c.4056T>A (p.His1352Gln)
c.846T>A (p.His282Gln)
5g.177260134T>CCA447726421NSD1c.4239T>C (p.His1413=)
n.4695T>C
c.4803T>C (p.His1601=)
n.4509T>C
n.5259T>C
c.5112T>C (p.His1704=)
c.4305T>C (p.His1435=)
c.606T>C (p.His202=)
c.4692T>C (p.His1564=)
c.4056T>C (p.His1352=)
c.846T>C (p.His282=)
 dbSNP gnomAD v2 gnomAD v4
5g.177260134T>GCA362303272NSD1c.4239T>G (p.His1413Gln)
n.4695T>G
c.4803T>G (p.His1601Gln)
n.4509T>G
n.5259T>G
c.5112T>G (p.His1704Gln)
c.4305T>G (p.His1435Gln)
c.606T>G (p.His202Gln)
c.4692T>G (p.His1564Gln)
c.4056T>G (p.His1352Gln)
c.846T>G (p.His282Gln)
5g.177260134T=CA1603527267NSD1c.4239T= (p.His1413=)
n.4695T=
c.4803T= (p.His1601=)
n.4509T=
n.5259T=
c.5112T= (p.His1704=)
c.4305T= (p.His1435=)
c.606T= (p.His202=)
c.4692T= (p.His1564=)
c.4056T= (p.His1352=)
c.846T= (p.His282=)
5g.177260135G>ACA362303275NSD1c.4240G>A (p.Val1414Ile)
n.4696G>A
c.4804G>A (p.Val1602Ile)
n.4510G>A
n.5260G>A
c.5113G>A (p.Val1705Ile)
c.4306G>A (p.Val1436Ile)
c.607G>A (p.Val203Ile)
c.4693G>A (p.Val1565Ile)
c.4057G>A (p.Val1353Ile)
c.847G>A (p.Val283Ile)
 gnomAD v4
5g.177260135G>CCA362303276NSD1c.4240G>C (p.Val1414Leu)
n.4696G>C
c.4804G>C (p.Val1602Leu)
n.4510G>C
n.5260G>C
c.5113G>C (p.Val1705Leu)
c.4306G>C (p.Val1436Leu)
c.607G>C (p.Val203Leu)
c.4693G>C (p.Val1565Leu)
c.4057G>C (p.Val1353Leu)
c.847G>C (p.Val283Leu)
5g.177260135G>TCA362303278NSD1c.4240G>T (p.Val1414Phe)
n.4696G>T
c.4804G>T (p.Val1602Phe)
n.4510G>T
n.5260G>T
c.5113G>T (p.Val1705Phe)
c.4306G>T (p.Val1436Phe)
c.607G>T (p.Val203Phe)
c.4693G>T (p.Val1565Phe)
c.4057G>T (p.Val1353Phe)
c.847G>T (p.Val283Phe)
5g.177260136T>ACA362303281NSD1c.4241T>A (p.Val1414Asp)
n.4697T>A
c.4805T>A (p.Val1602Asp)
n.4511T>A
n.5261T>A
c.5114T>A (p.Val1705Asp)
c.4307T>A (p.Val1436Asp)
c.608T>A (p.Val203Asp)
c.4694T>A (p.Val1565Asp)
c.4058T>A (p.Val1353Asp)
c.848T>A (p.Val283Asp)
5g.177260136T>CCA362303282NSD1c.4241T>C (p.Val1414Ala)
n.4697T>C
c.4805T>C (p.Val1602Ala)
n.4511T>C
n.5261T>C
c.5114T>C (p.Val1705Ala)
c.4307T>C (p.Val1436Ala)
c.608T>C (p.Val203Ala)
c.4694T>C (p.Val1565Ala)
c.4058T>C (p.Val1353Ala)
c.848T>C (p.Val283Ala)
5g.177260136T>GCA362303284NSD1c.4241T>G (p.Val1414Gly)
n.4697T>G
c.4805T>G (p.Val1602Gly)
n.4511T>G
n.5261T>G
c.5114T>G (p.Val1705Gly)
c.4307T>G (p.Val1436Gly)
c.608T>G (p.Val203Gly)
c.4694T>G (p.Val1565Gly)
c.4058T>G (p.Val1353Gly)
c.848T>G (p.Val283Gly)
5g.177260137T>ACA447726422NSD1c.4242T>A (p.Val1414=)
n.4698T>A
c.4806T>A (p.Val1602=)
n.4512T>A
n.5262T>A
c.5115T>A (p.Val1705=)
c.4308T>A (p.Val1436=)
c.609T>A (p.Val203=)
c.4695T>A (p.Val1565=)
c.4059T>A (p.Val1353=)
c.849T>A (p.Val283=)
5g.177260137T>CCA447726423NSD1c.4242T>C (p.Val1414=)
n.4698T>C
c.4806T>C (p.Val1602=)
n.4512T>C
n.5262T>C
c.5115T>C (p.Val1705=)
c.4308T>C (p.Val1436=)
c.609T>C (p.Val203=)
c.4695T>C (p.Val1565=)
c.4059T>C (p.Val1353=)
c.849T>C (p.Val283=)
5g.177260137T>GCA447726424NSD1c.4242T>G (p.Val1414=)
n.4698T>G
c.4806T>G (p.Val1602=)
n.4512T>G
n.5262T>G
c.5115T>G (p.Val1705=)
c.4308T>G (p.Val1436=)
c.609T>G (p.Val203=)
c.4695T>G (p.Val1565=)
c.4059T>G (p.Val1353=)
c.849T>G (p.Val283=)
5g.177260138A>CCA362303287NSD1c.4243A>C (p.Asn1415His)
n.4699A>C
c.4807A>C (p.Asn1603His)
n.4513A>C
n.5263A>C
c.5116A>C (p.Asn1706His)
c.4309A>C (p.Asn1437His)
c.610A>C (p.Asn204His)
c.4696A>C (p.Asn1566His)
c.4060A>C (p.Asn1354His)
c.850A>C (p.Asn284His)
5g.177260138A>GCA362303289NSD1c.4243A>G (p.Asn1415Asp)
n.4699A>G
c.4807A>G (p.Asn1603Asp)
n.4513A>G
n.5263A>G
c.5116A>G (p.Asn1706Asp)
c.4309A>G (p.Asn1437Asp)
c.610A>G (p.Asn204Asp)
c.4696A>G (p.Asn1566Asp)
c.4060A>G (p.Asn1354Asp)
c.850A>G (p.Asn284Asp)
5g.177260138A>TCA362303291NSD1c.4243A>T (p.Asn1415Tyr)
n.4699A>T
c.4807A>T (p.Asn1603Tyr)
n.4513A>T
n.5263A>T
c.5116A>T (p.Asn1706Tyr)
c.4309A>T (p.Asn1437Tyr)
c.610A>T (p.Asn204Tyr)
c.4696A>T (p.Asn1566Tyr)
c.4060A>T (p.Asn1354Tyr)
c.850A>T (p.Asn284Tyr)
5g.177260139A>CCA362303297NSD1c.4244A>C (p.Asn1415Thr)
n.4700A>C
c.4808A>C (p.Asn1603Thr)
n.4514A>C
n.5264A>C
c.5117A>C (p.Asn1706Thr)
c.4310A>C (p.Asn1437Thr)
c.611A>C (p.Asn204Thr)
c.4697A>C (p.Asn1566Thr)
c.4061A>C (p.Asn1354Thr)
c.851A>C (p.Asn284Thr)
5g.177260139A>GCA362303295NSD1c.4244A>G (p.Asn1415Ser)
n.4700A>G
c.4808A>G (p.Asn1603Ser)
n.4514A>G
n.5264A>G
c.5117A>G (p.Asn1706Ser)
c.4310A>G (p.Asn1437Ser)
c.611A>G (p.Asn204Ser)
c.4697A>G (p.Asn1566Ser)
c.4061A>G (p.Asn1354Ser)
c.851A>G (p.Asn284Ser)
5g.177260139A>TCA362303294NSD1c.4244A>T (p.Asn1415Ile)
n.4700A>T
c.4808A>T (p.Asn1603Ile)
n.4514A>T
n.5264A>T
c.5117A>T (p.Asn1706Ile)
c.4310A>T (p.Asn1437Ile)
c.611A>T (p.Asn204Ile)
c.4697A>T (p.Asn1566Ile)
c.4061A>T (p.Asn1354Ile)
c.851A>T (p.Asn284Ile)
5g.177260140T>ACA362303300NSD1c.4245T>A (p.Asn1415Lys)
n.4701T>A
c.4809T>A (p.Asn1603Lys)
n.4515T>A
n.5265T>A
c.5118T>A (p.Asn1706Lys)
c.4311T>A (p.Asn1437Lys)
c.612T>A (p.Asn204Lys)
c.4698T>A (p.Asn1566Lys)
c.4062T>A (p.Asn1354Lys)
c.852T>A (p.Asn284Lys)
5g.177260140T>CCA3577766NSD1c.4245T>C (p.Asn1415=)
n.4701T>C
c.4809T>C (p.Asn1603=)
n.4515T>C
n.5265T>C
c.5118T>C (p.Asn1706=)
c.4311T>C (p.Asn1437=)
c.612T>C (p.Asn204=)
c.4698T>C (p.Asn1566=)
c.4062T>C (p.Asn1354=)
c.852T>C (p.Asn284=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177260140T>GCA362303302NSD1c.4245T>G (p.Asn1415Lys)
n.4701T>G
c.4809T>G (p.Asn1603Lys)
n.4515T>G
n.5265T>G
c.5118T>G (p.Asn1706Lys)
c.4311T>G (p.Asn1437Lys)
c.612T>G (p.Asn204Lys)
c.4698T>G (p.Asn1566Lys)
c.4062T>G (p.Asn1354Lys)
c.852T>G (p.Asn284Lys)
5g.177260140T=CA1603527272NSD1c.4245T= (p.Asn1415=)
n.4701T=
c.4809T= (p.Asn1603=)
n.4515T=
n.5265T=
c.5118T= (p.Asn1706=)
c.4311T= (p.Asn1437=)
c.612T= (p.Asn204=)
c.4698T= (p.Asn1566=)
c.4062T= (p.Asn1354=)
c.852T= (p.Asn284=)
5g.177260141G>ACA362303304NSD1c.4246G>A (p.Val1416Ile)
n.4702G>A
c.4810G>A (p.Val1604Ile)
n.4516G>A
n.5266G>A
c.5119G>A (p.Val1707Ile)
c.4312G>A (p.Val1438Ile)
c.613G>A (p.Val205Ile)
c.4699G>A (p.Val1567Ile)
c.4063G>A (p.Val1355Ile)
c.853G>A (p.Val285Ile)
5g.177260141G>CCA362303306NSD1c.4246G>C (p.Val1416Leu)
n.4702G>C
c.4810G>C (p.Val1604Leu)
n.4516G>C
n.5266G>C
c.5119G>C (p.Val1707Leu)
c.4312G>C (p.Val1438Leu)
c.613G>C (p.Val205Leu)
c.4699G>C (p.Val1567Leu)
c.4063G>C (p.Val1355Leu)
c.853G>C (p.Val285Leu)
5g.177260141G>TCA362303308NSD1c.4246G>T (p.Val1416Phe)
n.4702G>T
c.4810G>T (p.Val1604Phe)
n.4516G>T
n.5266G>T
c.5119G>T (p.Val1707Phe)
c.4312G>T (p.Val1438Phe)
c.613G>T (p.Val205Phe)
c.4699G>T (p.Val1567Phe)
c.4063G>T (p.Val1355Phe)
c.853G>T (p.Val285Phe)
5g.177260142T>ACA362303310NSD1c.4247T>A (p.Val1416Asp)
n.4703T>A
c.4811T>A (p.Val1604Asp)
n.4517T>A
n.5267T>A
c.5120T>A (p.Val1707Asp)
c.4313T>A (p.Val1438Asp)
c.614T>A (p.Val205Asp)
c.4700T>A (p.Val1567Asp)
c.4064T>A (p.Val1355Asp)
c.854T>A (p.Val285Asp)
 ClinVar dbSNP
5g.177260142T>CCA362303313NSD1c.4247T>C (p.Val1416Ala)
n.4703T>C
c.4811T>C (p.Val1604Ala)
n.4517T>C
n.5267T>C
c.5120T>C (p.Val1707Ala)
c.4313T>C (p.Val1438Ala)
c.614T>C (p.Val205Ala)
c.4700T>C (p.Val1567Ala)
c.4064T>C (p.Val1355Ala)
c.854T>C (p.Val285Ala)
5g.177260142T>GCA362303314NSD1c.4247T>G (p.Val1416Gly)
n.4703T>G
c.4811T>G (p.Val1604Gly)
n.4517T>G
n.5267T>G
c.5120T>G (p.Val1707Gly)
c.4313T>G (p.Val1438Gly)
c.614T>G (p.Val205Gly)
c.4700T>G (p.Val1567Gly)
c.4064T>G (p.Val1355Gly)
c.854T>G (p.Val285Gly)
5g.177260143T>ACA447726427NSD1c.4248T>A (p.Val1416=)
n.4704T>A
c.4812T>A (p.Val1604=)
n.4518T>A
n.5268T>A
c.5121T>A (p.Val1707=)
c.4314T>A (p.Val1438=)
c.615T>A (p.Val205=)
c.4701T>A (p.Val1567=)
c.4065T>A (p.Val1355=)
c.855T>A (p.Val285=)
5g.177260143T>CCA447726426NSD1c.4248T>C (p.Val1416=)
n.4704T>C
c.4812T>C (p.Val1604=)
n.4518T>C
n.5268T>C
c.5121T>C (p.Val1707=)
c.4314T>C (p.Val1438=)
c.615T>C (p.Val205=)
c.4701T>C (p.Val1567=)
c.4065T>C (p.Val1355=)
c.855T>C (p.Val285=)
 ClinVar dbSNP
5g.177260143T>GCA447726425NSD1c.4248T>G (p.Val1416=)
n.4704T>G
c.4812T>G (p.Val1604=)
n.4518T>G
n.5268T>G
c.5121T>G (p.Val1707=)
c.4314T>G (p.Val1438=)
c.615T>G (p.Val205=)
c.4701T>G (p.Val1567=)
c.4065T>G (p.Val1355=)
c.855T>G (p.Val285=)
5g.177260143T=CA1603527275NSD1c.4248T= (p.Val1416=)
n.4704T=
c.4812T= (p.Val1604=)
n.4518T=
n.5268T=
c.5121T= (p.Val1707=)
c.4314T= (p.Val1438=)
c.615T= (p.Val205=)
c.4701T= (p.Val1567=)
c.4065T= (p.Val1355=)
c.855T= (p.Val285=)
5g.177260144A>CCA362303317NSD1c.4249A>C (p.Ser1417Arg)
n.4705A>C
c.4813A>C (p.Ser1605Arg)
n.4519A>C
n.5269A>C
c.5122A>C (p.Ser1708Arg)
c.4315A>C (p.Ser1439Arg)
c.616A>C (p.Ser206Arg)
c.4702A>C (p.Ser1568Arg)
c.4066A>C (p.Ser1356Arg)
c.856A>C (p.Ser286Arg)
5g.177260144A>GCA362303319NSD1c.4249A>G (p.Ser1417Gly)
n.4705A>G
c.4813A>G (p.Ser1605Gly)
n.4519A>G
n.5269A>G
c.5122A>G (p.Ser1708Gly)
c.4315A>G (p.Ser1439Gly)
c.616A>G (p.Ser206Gly)
c.4702A>G (p.Ser1568Gly)
c.4066A>G (p.Ser1356Gly)
c.856A>G (p.Ser286Gly)
5g.177260144A>TCA362303321NSD1c.4249A>T (p.Ser1417Cys)
n.4705A>T
c.4813A>T (p.Ser1605Cys)
n.4519A>T
n.5269A>T
c.5122A>T (p.Ser1708Cys)
c.4315A>T (p.Ser1439Cys)
c.616A>T (p.Ser206Cys)
c.4702A>T (p.Ser1568Cys)
c.4066A>T (p.Ser1356Cys)
c.856A>T (p.Ser286Cys)
 COSMIC COSMIC
5g.177260145G>ACA362303328NSD1c.4250G>A (p.Ser1417Asn)
n.4706G>A
c.4814G>A (p.Ser1605Asn)
n.4520G>A
n.5270G>A
c.5123G>A (p.Ser1708Asn)
c.4316G>A (p.Ser1439Asn)
c.617G>A (p.Ser206Asn)
c.4703G>A (p.Ser1568Asn)
c.4067G>A (p.Ser1356Asn)
c.857G>A (p.Ser286Asn)
5g.177260145G>CCA362303325NSD1c.4250G>C (p.Ser1417Thr)
n.4706G>C
c.4814G>C (p.Ser1605Thr)
n.4520G>C
n.5270G>C
c.5123G>C (p.Ser1708Thr)
c.4316G>C (p.Ser1439Thr)
c.617G>C (p.Ser206Thr)
c.4703G>C (p.Ser1568Thr)
c.4067G>C (p.Ser1356Thr)
c.857G>C (p.Ser286Thr)
5g.177260145G>TCA362303324NSD1c.4250G>T (p.Ser1417Ile)
n.4706G>T
c.4814G>T (p.Ser1605Ile)
n.4520G>T
n.5270G>T
c.5123G>T (p.Ser1708Ile)
c.4316G>T (p.Ser1439Ile)
c.617G>T (p.Ser206Ile)
c.4703G>T (p.Ser1568Ile)
c.4067G>T (p.Ser1356Ile)
c.857G>T (p.Ser286Ile)
5g.177260146C>ACA362303332NSD1c.4251C>A (p.Ser1417Arg)
n.4707C>A
c.4815C>A (p.Ser1605Arg)
n.4521C>A
n.5271C>A
c.5124C>A (p.Ser1708Arg)
c.4317C>A (p.Ser1439Arg)
c.618C>A (p.Ser206Arg)
c.4704C>A (p.Ser1568Arg)
c.4068C>A (p.Ser1356Arg)
c.858C>A (p.Ser286Arg)
5g.177260146C=CA1603527281NSD1c.4251C= (p.Ser1417=)
n.4707C=
c.4815C= (p.Ser1605=)
n.4521C=
n.5271C=
c.5124C= (p.Ser1708=)
c.4317C= (p.Ser1439=)
c.618C= (p.Ser206=)
c.4704C= (p.Ser1568=)
c.4068C= (p.Ser1356=)
c.858C= (p.Ser286=)
5g.177260146C>GCA362303330NSD1c.4251C>G (p.Ser1417Arg)
n.4707C>G
c.4815C>G (p.Ser1605Arg)
n.4521C>G
n.5271C>G
c.5124C>G (p.Ser1708Arg)
c.4317C>G (p.Ser1439Arg)
c.618C>G (p.Ser206Arg)
c.4704C>G (p.Ser1568Arg)
c.4068C>G (p.Ser1356Arg)
c.858C>G (p.Ser286Arg)
5g.177260146C>TCA132830215NSD1c.4251C>T (p.Ser1417=)
n.4707C>T
c.4815C>T (p.Ser1605=)
n.4521C>T
n.5271C>T
c.5124C>T (p.Ser1708=)
c.4317C>T (p.Ser1439=)
c.618C>T (p.Ser206=)
c.4704C>T (p.Ser1568=)
c.4068C>T (p.Ser1356=)
c.858C>T (p.Ser286=)
 dbSNP gnomAD v4
5g.177260147T>ACA362303335NSD1c.4252T>A (p.Trp1418Arg)
n.4708T>A
c.4816T>A (p.Trp1606Arg)
n.4522T>A
n.5272T>A
c.5125T>A (p.Trp1709Arg)
c.4318T>A (p.Trp1440Arg)
c.619T>A (p.Trp207Arg)
c.4705T>A (p.Trp1569Arg)
c.4069T>A (p.Trp1357Arg)
c.859T>A (p.Trp287Arg)
5g.177260147T>CCA362303337NSD1c.4252T>C (p.Trp1418Arg)
n.4708T>C
c.4816T>C (p.Trp1606Arg)
n.4522T>C
n.5272T>C
c.5125T>C (p.Trp1709Arg)
c.4318T>C (p.Trp1440Arg)
c.619T>C (p.Trp207Arg)
c.4705T>C (p.Trp1569Arg)
c.4069T>C (p.Trp1357Arg)
c.859T>C (p.Trp287Arg)
5g.177260147T>GCA362303339NSD1c.4252T>G (p.Trp1418Gly)
n.4708T>G
c.4816T>G (p.Trp1606Gly)
n.4522T>G
n.5272T>G
c.5125T>G (p.Trp1709Gly)
c.4318T>G (p.Trp1440Gly)
c.619T>G (p.Trp207Gly)
c.4705T>G (p.Trp1569Gly)
c.4069T>G (p.Trp1357Gly)
c.859T>G (p.Trp287Gly)
5g.177260148G>ACA362303341NSD1c.4253G>A (p.Trp1418Ter)
n.4709G>A
c.4817G>A (p.Trp1606Ter)
n.4523G>A
n.5273G>A
c.5126G>A (p.Trp1709Ter)
c.4319G>A (p.Trp1440Ter)
c.620G>A (p.Trp207Ter)
c.4706G>A (p.Trp1569Ter)
c.4070G>A (p.Trp1357Ter)
c.860G>A (p.Trp287Ter)
5g.177260148G>CCA362303343NSD1c.4253G>C (p.Trp1418Ser)
n.4709G>C
c.4817G>C (p.Trp1606Ser)
n.4523G>C
n.5273G>C
c.5126G>C (p.Trp1709Ser)
c.4319G>C (p.Trp1440Ser)
c.620G>C (p.Trp207Ser)
c.4706G>C (p.Trp1569Ser)
c.4070G>C (p.Trp1357Ser)
c.860G>C (p.Trp287Ser)
5g.177260148G>TCA362303345NSD1c.4253G>T (p.Trp1418Leu)
n.4709G>T
c.4817G>T (p.Trp1606Leu)
n.4523G>T
n.5273G>T
c.5126G>T (p.Trp1709Leu)
c.4319G>T (p.Trp1440Leu)
c.620G>T (p.Trp207Leu)
c.4706G>T (p.Trp1569Leu)
c.4070G>T (p.Trp1357Leu)
c.860G>T (p.Trp287Leu)
5g.177260149G>ACA362303347NSD1c.4254G>A (p.Trp1418Ter)
n.4710G>A
c.4818G>A (p.Trp1606Ter)
n.4524G>A
n.5274G>A
c.5127G>A (p.Trp1709Ter)
c.4320G>A (p.Trp1440Ter)
c.621G>A (p.Trp207Ter)
c.4707G>A (p.Trp1569Ter)
c.4071G>A (p.Trp1357Ter)
c.861G>A (p.Trp287Ter)
 ClinVar dbSNP
5g.177260149G>CCA362303349NSD1c.4254G>C (p.Trp1418Cys)
n.4710G>C
c.4818G>C (p.Trp1606Cys)
n.4524G>C
n.5274G>C
c.5127G>C (p.Trp1709Cys)
c.4320G>C (p.Trp1440Cys)
c.621G>C (p.Trp207Cys)
c.4707G>C (p.Trp1569Cys)
c.4071G>C (p.Trp1357Cys)
c.861G>C (p.Trp287Cys)
5g.177260149G>TCA362303351NSD1c.4254G>T (p.Trp1418Cys)
n.4710G>T
c.4818G>T (p.Trp1606Cys)
n.4524G>T
n.5274G>T
c.5127G>T (p.Trp1709Cys)
c.4320G>T (p.Trp1440Cys)
c.621G>T (p.Trp207Cys)
c.4707G>T (p.Trp1569Cys)
c.4071G>T (p.Trp1357Cys)
c.861G>T (p.Trp287Cys)
5g.177260150T>ACA362303354NSD1c.4255T>A (p.Cys1419Ser)
n.4711T>A
c.4819T>A (p.Cys1607Ser)
n.4525T>A
n.5275T>A
c.5128T>A (p.Cys1710Ser)
c.4321T>A (p.Cys1441Ser)
c.622T>A (p.Cys208Ser)
c.4708T>A (p.Cys1570Ser)
c.4072T>A (p.Cys1358Ser)
c.862T>A (p.Cys288Ser)
5g.177260150T>CCA362303356NSD1c.4255T>C (p.Cys1419Arg)
n.4711T>C
c.4819T>C (p.Cys1607Arg)
n.4525T>C
n.5275T>C
c.5128T>C (p.Cys1710Arg)
c.4321T>C (p.Cys1441Arg)
c.622T>C (p.Cys208Arg)
c.4708T>C (p.Cys1570Arg)
c.4072T>C (p.Cys1358Arg)
c.862T>C (p.Cys288Arg)
5g.177260150T>GCA362303358NSD1c.4255T>G (p.Cys1419Gly)
n.4711T>G
c.4819T>G (p.Cys1607Gly)
n.4525T>G
n.5275T>G
c.5128T>G (p.Cys1710Gly)
c.4321T>G (p.Cys1441Gly)
c.622T>G (p.Cys208Gly)
c.4708T>G (p.Cys1570Gly)
c.4072T>G (p.Cys1358Gly)
c.862T>G (p.Cys288Gly)
5g.177260151G>ACA362303364NSD1c.4256G>A (p.Cys1419Tyr)
n.4712G>A
c.4820G>A (p.Cys1607Tyr)
n.4526G>A
n.5276G>A
c.5129G>A (p.Cys1710Tyr)
c.4322G>A (p.Cys1441Tyr)
c.623G>A (p.Cys208Tyr)
c.4709G>A (p.Cys1570Tyr)
c.4073G>A (p.Cys1358Tyr)
c.863G>A (p.Cys288Tyr)
5g.177260151G>CCA362303362NSD1c.4256G>C (p.Cys1419Ser)
n.4712G>C
c.4820G>C (p.Cys1607Ser)
n.4526G>C
n.5276G>C
c.5129G>C (p.Cys1710Ser)
c.4322G>C (p.Cys1441Ser)
c.623G>C (p.Cys208Ser)
c.4709G>C (p.Cys1570Ser)
c.4073G>C (p.Cys1358Ser)
c.863G>C (p.Cys288Ser)
5g.177260151G=CA1603527290NSD1c.4256G= (p.Cys1419=)
n.4712G=
c.4820G= (p.Cys1607=)
n.4526G=
n.5276G=
c.5129G= (p.Cys1710=)
c.4322G= (p.Cys1441=)
c.623G= (p.Cys208=)
c.4709G= (p.Cys1570=)
c.4073G= (p.Cys1358=)
c.863G= (p.Cys288=)
5g.177260151G>TCA16042514NSD1c.4256G>T (p.Cys1419Phe)
n.4712G>T
c.4820G>T (p.Cys1607Phe)
n.4526G>T
n.5276G>T
c.5129G>T (p.Cys1710Phe)
c.4322G>T (p.Cys1441Phe)
c.623G>T (p.Cys208Phe)
c.4709G>T (p.Cys1570Phe)
c.4073G>T (p.Cys1358Phe)
c.863G>T (p.Cys288Phe)
 ClinVar dbSNP
5g.177260152C>ACA362303366NSD1c.4257C>A (p.Cys1419Ter)
n.4713C>A
c.4821C>A (p.Cys1607Ter)
n.4527C>A
n.5277C>A
c.5130C>A (p.Cys1710Ter)
c.4323C>A (p.Cys1441Ter)
c.624C>A (p.Cys208Ter)
c.4710C>A (p.Cys1570Ter)
c.4074C>A (p.Cys1358Ter)
c.864C>A (p.Cys288Ter)
 COSMIC
5g.177260152C>GCA362303367NSD1c.4257C>G (p.Cys1419Trp)
n.4713C>G
c.4821C>G (p.Cys1607Trp)
n.4527C>G
n.5277C>G
c.5130C>G (p.Cys1710Trp)
c.4323C>G (p.Cys1441Trp)
c.624C>G (p.Cys208Trp)
c.4710C>G (p.Cys1570Trp)
c.4074C>G (p.Cys1358Trp)
c.864C>G (p.Cys288Trp)
5g.177260152C>TCA447726428NSD1c.4257C>T (p.Cys1419=)
n.4713C>T
c.4821C>T (p.Cys1607=)
n.4527C>T
n.5277C>T
c.5130C>T (p.Cys1710=)
c.4323C>T (p.Cys1441=)
c.624C>T (p.Cys208=)
c.4710C>T (p.Cys1570=)
c.4074C>T (p.Cys1358=)
c.864C>T (p.Cys288=)
5g.177260153T>ACA362303369NSD1c.4258T>A (p.Phe1420Ile)
n.4714T>A
c.4822T>A (p.Phe1608Ile)
n.4528T>A
n.5278T>A
c.5131T>A (p.Phe1711Ile)
c.4324T>A (p.Phe1442Ile)
c.625T>A (p.Phe209Ile)
c.4711T>A (p.Phe1571Ile)
c.4075T>A (p.Phe1359Ile)
c.865T>A (p.Phe289Ile)
5g.177260153T>CCA362303371NSD1c.4258T>C (p.Phe1420Leu)
n.4714T>C
c.4822T>C (p.Phe1608Leu)
n.4528T>C
n.5278T>C
c.5131T>C (p.Phe1711Leu)
c.4324T>C (p.Phe1442Leu)
c.625T>C (p.Phe209Leu)
c.4711T>C (p.Phe1571Leu)
c.4075T>C (p.Phe1359Leu)
c.865T>C (p.Phe289Leu)
5g.177260153T>GCA362303373NSD1c.4258T>G (p.Phe1420Val)
n.4714T>G
c.4822T>G (p.Phe1608Val)
n.4528T>G
n.5278T>G
c.5131T>G (p.Phe1711Val)
c.4324T>G (p.Phe1442Val)
c.625T>G (p.Phe209Val)
c.4711T>G (p.Phe1571Val)
c.4075T>G (p.Phe1359Val)
c.865T>G (p.Phe289Val)
5g.177260154T>ACA362303377NSD1c.4259T>A (p.Phe1420Tyr)
n.4715T>A
c.4823T>A (p.Phe1608Tyr)
n.4529T>A
n.5279T>A
c.5132T>A (p.Phe1711Tyr)
c.4325T>A (p.Phe1442Tyr)
c.626T>A (p.Phe209Tyr)
c.4712T>A (p.Phe1571Tyr)
c.4076T>A (p.Phe1359Tyr)
c.866T>A (p.Phe289Tyr)
5g.177260154T>CCA362303378NSD1c.4259T>C (p.Phe1420Ser)
n.4715T>C
c.4823T>C (p.Phe1608Ser)
n.4529T>C
n.5279T>C
c.5132T>C (p.Phe1711Ser)
c.4325T>C (p.Phe1442Ser)
c.626T>C (p.Phe209Ser)
c.4712T>C (p.Phe1571Ser)
c.4076T>C (p.Phe1359Ser)
c.866T>C (p.Phe289Ser)
5g.177260154T>GCA362303381NSD1c.4259T>G (p.Phe1420Cys)
n.4715T>G
c.4823T>G (p.Phe1608Cys)
n.4529T>G
n.5279T>G
c.5132T>G (p.Phe1711Cys)
c.4325T>G (p.Phe1442Cys)
c.626T>G (p.Phe209Cys)
c.4712T>G (p.Phe1571Cys)
c.4076T>G (p.Phe1359Cys)
c.866T>G (p.Phe289Cys)
5g.177260155T>ACA362303383NSD1c.4260T>A (p.Phe1420Leu)
n.4716T>A
c.4824T>A (p.Phe1608Leu)
n.4530T>A
n.5280T>A
c.5133T>A (p.Phe1711Leu)
c.4326T>A (p.Phe1442Leu)
c.627T>A (p.Phe209Leu)
c.4713T>A (p.Phe1571Leu)
c.4077T>A (p.Phe1359Leu)
c.867T>A (p.Phe289Leu)
5g.177260155T>CCA3577767NSD1c.4260T>C (p.Phe1420=)
n.4716T>C
c.4824T>C (p.Phe1608=)
n.4530T>C
n.5280T>C
c.5133T>C (p.Phe1711=)
c.4326T>C (p.Phe1442=)
c.627T>C (p.Phe209=)
c.4713T>C (p.Phe1571=)
c.4077T>C (p.Phe1359=)
c.867T>C (p.Phe289=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177260155T>GCA362303385NSD1c.4260T>G (p.Phe1420Leu)
n.4716T>G
c.4824T>G (p.Phe1608Leu)
n.4530T>G
n.5280T>G
c.5133T>G (p.Phe1711Leu)
c.4326T>G (p.Phe1442Leu)
c.627T>G (p.Phe209Leu)
c.4713T>G (p.Phe1571Leu)
c.4077T>G (p.Phe1359Leu)
c.867T>G (p.Phe289Leu)
5g.177260155T=CA1603527295NSD1c.4260T= (p.Phe1420=)
n.4716T=
c.4824T= (p.Phe1608=)
n.4530T=
n.5280T=
c.5133T= (p.Phe1711=)
c.4326T= (p.Phe1442=)
c.627T= (p.Phe209=)
c.4713T= (p.Phe1571=)
c.4077T= (p.Phe1359=)
c.867T= (p.Phe289=)
5g.177260156G>ACA362303387NSD1c.4261G>A (p.Val1421Met)
n.4717G>A
c.4825G>A (p.Val1609Met)
n.4531G>A
n.5281G>A
c.5134G>A (p.Val1712Met)
c.4327G>A (p.Val1443Met)
c.628G>A (p.Val210Met)
c.4714G>A (p.Val1572Met)
c.4078G>A (p.Val1360Met)
c.868G>A (p.Val290Met)
5g.177260156G>CCA362303388NSD1c.4261G>C (p.Val1421Leu)
n.4717G>C
c.4825G>C (p.Val1609Leu)
n.4531G>C
n.5281G>C
c.5134G>C (p.Val1712Leu)
c.4327G>C (p.Val1443Leu)
c.628G>C (p.Val210Leu)
c.4714G>C (p.Val1572Leu)
c.4078G>C (p.Val1360Leu)
c.868G>C (p.Val290Leu)
5g.177260156G>TCA362303390NSD1c.4261G>T (p.Val1421Leu)
n.4717G>T
c.4825G>T (p.Val1609Leu)
n.4531G>T
n.5281G>T
c.5134G>T (p.Val1712Leu)
c.4327G>T (p.Val1443Leu)
c.628G>T (p.Val210Leu)
c.4714G>T (p.Val1572Leu)
c.4078G>T (p.Val1360Leu)
c.868G>T (p.Val290Leu)
5g.177260157T>ACA362303398NSD1c.4262T>A (p.Val1421Glu)
n.4718T>A
c.4826T>A (p.Val1609Glu)
n.4532T>A
n.5282T>A
c.5135T>A (p.Val1712Glu)
c.4328T>A (p.Val1443Glu)
c.629T>A (p.Val210Glu)
c.4715T>A (p.Val1572Glu)
c.4079T>A (p.Val1360Glu)
c.869T>A (p.Val290Glu)
5g.177260157T>CCA362303399NSD1c.4262T>C (p.Val1421Ala)
n.4718T>C
c.4826T>C (p.Val1609Ala)
n.4532T>C
n.5282T>C
c.5135T>C (p.Val1712Ala)
c.4328T>C (p.Val1443Ala)
c.629T>C (p.Val210Ala)
c.4715T>C (p.Val1572Ala)
c.4079T>C (p.Val1360Ala)
c.869T>C (p.Val290Ala)
5g.177260157T>GCA362303393NSD1c.4262T>G (p.Val1421Gly)
n.4718T>G
c.4826T>G (p.Val1609Gly)
n.4532T>G
n.5282T>G
c.5135T>G (p.Val1712Gly)
c.4328T>G (p.Val1443Gly)
c.629T>G (p.Val210Gly)
c.4715T>G (p.Val1572Gly)
c.4079T>G (p.Val1360Gly)
c.869T>G (p.Val290Gly)
5g.177260158G>ACA447726429NSD1c.4263G>A (p.Val1421=)
n.4719G>A
c.4827G>A (p.Val1609=)
n.4533G>A
n.5283G>A
c.5136G>A (p.Val1712=)
c.4329G>A (p.Val1443=)
c.630G>A (p.Val210=)
c.4716G>A (p.Val1572=)
c.4080G>A (p.Val1360=)
c.870G>A (p.Val290=)
5g.177260158G>CCA447726430NSD1c.4263G>C (p.Val1421=)
n.4719G>C
c.4827G>C (p.Val1609=)
n.4533G>C
n.5283G>C
c.5136G>C (p.Val1712=)
c.4329G>C (p.Val1443=)
c.630G>C (p.Val210=)
c.4716G>C (p.Val1572=)
c.4080G>C (p.Val1360=)
c.870G>C (p.Val290=)
5g.177260158G>TCA447726431NSD1c.4263G>T (p.Val1421=)
n.4719G>T
c.4827G>T (p.Val1609=)
n.4533G>T
n.5283G>T
c.5136G>T (p.Val1712=)
c.4329G>T (p.Val1443=)
c.630G>T (p.Val210=)
c.4716G>T (p.Val1572=)
c.4080G>T (p.Val1360=)
c.870G>T (p.Val290=)
 gnomAD v4

Number of alleles fetched