Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched