Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177260068T>A | CA447726330 | NSD1 | c.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=) | |
5 | g.177260068T>C | CA447726331 | NSD1 | c.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=) | |
5 | g.177260068T>G | CA447726332 | NSD1 | c.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 |
5 | g.177260069G>A | CA362302986 | NSD1 | c.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) | |
5 | g.177260069G>C | CA362302987 | NSD1 | c.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 |
5 | g.177260069G>T | CA362302988 | NSD1 | c.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) | |
5 | g.177260070C>A | CA362302994 | NSD1 | c.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) | |
5 | g.177260070C>G | CA362302992 | NSD1 | c.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) | |
5 | g.177260070C>T | CA362302990 | NSD1 | c.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) | |
5 | g.177260071A>C | CA447726337 | NSD1 | c.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=) | |
5 | g.177260071A>G | CA447726336 | NSD1 | c.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=) | |
5 | g.177260071A>T | CA447726335 | NSD1 | c.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=) | |
5 | g.177260072T>A | CA3577759 | NSD1 | c.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 |
5 | g.177260072T>C | CA362302996 | NSD1 | c.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) | |
5 | g.177260072T>G | CA362302997 | NSD1 | c.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) | |
5 | g.177260072T= | CA1603527120 | NSD1 | c.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=) | |
5 | g.177260073C>A | CA362303000 | NSD1 | c.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) | |
5 | g.177260073C>G | CA362303001 | NSD1 | c.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) | |
5 | g.177260073C>T | CA362303003 | NSD1 | c.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) | |
5 | g.177260074T>A | CA447726339 | NSD1 | c.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=) | |
5 | g.177260074T>C | CA447726341 | NSD1 | c.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=) | |
5 | g.177260074T>G | CA447726343 | NSD1 | c.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=) | |
5 | g.177260075A>C | CA362303005 | NSD1 | c.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) | |
5 | g.177260075A>G | CA362303006 | NSD1 | c.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) | |
5 | g.177260075A>T | CA362303007 | NSD1 | c.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) | |
5 | g.177260076A>C | CA362303008 | NSD1 | c.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) | |
5 | g.177260076A>G | CA362303010 | NSD1 | c.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) | |
5 | g.177260076A>T | CA362303011 | NSD1 | c.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) | |
5 | g.177260077T>A | CA362303012 | NSD1 | c.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) | |
5 | g.177260077T>C | CA447726346 | NSD1 | c.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=) | |
5 | g.177260077T>G | CA362303014 | NSD1 | c.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) | |
5 | g.177260078A>C | CA362303019 | NSD1 | c.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) | |
5 | g.177260078A>G | CA362303017 | NSD1 | c.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) | |
5 | g.177260078A>T | CA362303016 | NSD1 | c.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) | |
5 | g.177260079G>A | CA362303021 | NSD1 | c.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) | |
5 | g.177260079G>C | CA362303022 | NSD1 | c.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) | |
5 | g.177260079G>T | CA362303023 | NSD1 | c.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) | |
5 | g.177260080T>A | CA362303024 | NSD1 | c.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) | |
5 | g.177260080T>C | CA447726349 | NSD1 | c.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 |
5 | g.177260080T>G | CA362303026 | NSD1 | c.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) | |
5 | g.177260080_177260083delinsTATC | CA1603527131 | NSD1 | c.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=) | |
5 | g.177260081A>C | CA362303029 | NSD1 | c.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) | |
5 | g.177260081A>G | CA362303030 | NSD1 | c.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 |
5 | g.177260081A>T | CA362303031 | NSD1 | c.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) | |
5 | g.177260084_177260086del | CA658796685 | NSD1 | c.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 |
5 | g.177260082T>A | CA362303033 | NSD1 | c.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) | |
5 | g.177260082T>C | CA362303034 | NSD1 | c.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) | |
5 | g.177260082T>G | CA362303035 | NSD1 | c.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) | |
5 | g.177260083C>A | CA447726354 | NSD1 | c.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=) | |
5 | g.177260083C= | CA1603527149 | NSD1 | c.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=) | |
5 | g.177260083C>G | CA362303037 | NSD1 | c.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) | |
5 | g.177260083C>T | CA3577760 | NSD1 | c.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 |
5 | g.177260084A>C | CA362303043 | NSD1 | c.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) | |
5 | g.177260084A>G | CA362303040 | NSD1 | c.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 |
5 | g.177260084A>T | CA362303042 | NSD1 | c.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) | |
5 | g.177260085T>A | CA362303046 | NSD1 | c.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) | |
5 | g.177260085T>C | CA362303048 | NSD1 | c.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) | |
5 | g.177260085T>G | CA362303049 | NSD1 | c.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) | |
5 | g.177260086C>A | CA447726359 | NSD1 | c.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=) | |
5 | g.177260086C>G | CA362303050 | NSD1 | c.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) | |
5 | g.177260086C>T | CA447726360 | NSD1 | c.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 |
5 | g.177260087T>A | CA362303053 | NSD1 | c.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) | |
5 | g.177260087T>C | CA362303054 | NSD1 | c.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) | |
5 | g.177260087T>G | CA362303056 | NSD1 | c.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) | |
5 | g.177260088G>A | CA362303058 | NSD1 | c.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) | |
5 | g.177260088G>C | CA362303059 | NSD1 | c.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 |
5 | g.177260088G= | CA1603527160 | NSD1 | c.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=) | |
5 | g.177260088G>T | CA362303060 | NSD1 | c.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 |
5 | g.177260089C>A | CA362303061 | NSD1 | c.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) | |
5 | g.177260089C= | CA1603527163 | NSD1 | c.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=) | |
5 | g.177260089C>G | CA362303062 | NSD1 | c.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) | |
5 | g.177260089C>T | CA447726362 | NSD1 | c.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 |
5 | g.177260090C>A | CA362303063 | NSD1 | c.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 |
5 | g.177260090C>G | CA362303067 | NSD1 | c.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) | |
5 | g.177260090C>T | CA362303065 | NSD1 | c.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) | |
5 | g.177260091C>A | CA362303069 | NSD1 | c.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) | |
5 | g.177260091C= | CA1603527171 | NSD1 | c.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=) | |
5 | g.177260091C>G | CA362303073 | NSD1 | c.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 |
5 | g.177260091C>T | CA362303070 | NSD1 | c.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 |
5 | g.177260092T>A | CA447726365 | NSD1 | c.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=) | |
5 | g.177260092T>C | CA447726366 | NSD1 | c.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 |
5 | g.177260092T>G | CA447726369 | NSD1 | c.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=) | |
5 | g.177260092T= | CA1603527181 | NSD1 | c.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=) | |
5 | g.177260093A>C | CA362303075 | NSD1 | c.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) | |
5 | g.177260093A>G | CA362303076 | NSD1 | c.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) | |
5 | g.177260093A>T | CA362303077 | NSD1 | c.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) | |
5 | g.177260094A>C | CA362303078 | NSD1 | c.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) | |
5 | g.177260094A>G | CA362303080 | NSD1 | c.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) | |
5 | g.177260094A>T | CA362303082 | NSD1 | c.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) | |
5 | g.177260095T>A | CA362303084 | NSD1 | c.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) | |
5 | g.177260095T>C | CA447726372 | NSD1 | c.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=) | |
5 | g.177260095T>G | CA362303086 | NSD1 | c.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) | |
5 | g.177260096C>A | CA362303089 | NSD1 | c.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) | |
5 | g.177260096C>G | CA362303090 | NSD1 | c.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) | |
5 | g.177260096C>T | CA362303092 | NSD1 | c.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) | |
5 | g.177260097A>C | CA362303099 | NSD1 | c.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) | |
5 | g.177260097A>G | CA362303096 | NSD1 | c.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) | |
5 | g.177260097A>T | CA362303098 | NSD1 | c.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) | |
5 | g.177260098C>A | CA362303102 | NSD1 | c.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) | |
5 | g.177260098C= | CA1603527187 | NSD1 | c.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=) | |
5 | g.177260098C>G | CA362303104 | NSD1 | c.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) | |
5 | g.177260098C>T | CA447726376 | NSD1 | c.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 |
5 | g.177260100_177260107del | CA2830782658 | NSD1 | c.4205_4212del (p.Phe1402Ter) n.4661_4668del c.4769_4776del (p.Phe1590Ter) n.4475_4482del n.5225_5232del c.5078_5085del (p.Phe1693Ter) c.4271_4278del (p.Phe1424Ter) c.572_579del (p.Phe191Ter) c.4658_4665del (p.Phe1553Ter) c.4022_4029del (p.Phe1341Ter) c.812_819del (p.Phe271Ter) | |
5 | g.177260099T>A | CA362303106 | NSD1 | c.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) | |
5 | g.177260099T>C | CA362303108 | NSD1 | c.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) | |
5 | g.177260099T>G | CA362303110 | NSD1 | c.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) | |
5 | g.177260100T>A | CA362303111 | NSD1 | c.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) | |
5 | g.177260100T>C | CA362303113 | NSD1 | c.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) | |
5 | g.177260100T>G | CA362303114 | NSD1 | c.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) | |
5 | g.177260101T>A | CA362303117 | NSD1 | c.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) | |
5 | g.177260101T>C | CA447726382 | NSD1 | c.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=) | |
5 | g.177260101T>G | CA362303119 | NSD1 | c.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) | |
5 | g.177260102A= | CA1603527195 | NSD1 | c.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=) | |
5 | g.177260102A>C | CA362303123 | NSD1 | c.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 |
5 | g.177260102A>G | CA362303125 | NSD1 | c.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) | |
5 | g.177260102A>T | CA362303122 | NSD1 | c.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) | |
5 | g.177260103C>A | CA362303127 | NSD1 | c.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) | |
5 | g.177260103C= | CA1603527202 | NSD1 | c.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=) | |
5 | g.177260103C>G | CA362303129 | NSD1 | c.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) | |
5 | g.177260103C>T | CA132830153 | NSD1 | c.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 |
5 | g.177260106del | CA2695205809 | NSD1 | c.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?) | |
5 | g.177260104C>A | CA447726386 | NSD1 | c.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=) | |
5 | g.177260104C= | CA1603527210 | NSD1 | c.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=) | |
5 | g.177260104C>G | CA447726387 | NSD1 | c.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=) | |
5 | g.177260104C>T | CA172837 | NSD1 | c.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 |
5 | g.177260105C>A | CA362303134 | NSD1 | c.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) | |
5 | g.177260105C>G | CA362303136 | NSD1 | c.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) | |
5 | g.177260105C>T | CA362303138 | NSD1 | c.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) | |
5 | g.177260106C>A | CA362303140 | NSD1 | c.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 |
5 | g.177260106C= | CA1603527222 | NSD1 | c.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=) | |
5 | g.177260106C>G | CA362303142 | NSD1 | c.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 |
5 | g.177260106C>T | CA3577761 | NSD1 | c.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 |
5 | g.177260107T>A | CA447726391 | NSD1 | c.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 |
5 | g.177260107T>C | CA3577762 | NSD1 | c.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 |
5 | g.177260107T>G | CA447726392 | NSD1 | c.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=) | |
5 | g.177260107T= | CA1603527226 | NSD1 | c.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=) | |
5 | g.177260108A= | CA1603527229 | NSD1 | c.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=) | |
5 | g.177260108A>C | CA447726394 | NSD1 | c.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 |
5 | g.177260108A>G | CA3577763 | NSD1 | c.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 |
5 | g.177260108A>T | CA362303147 | NSD1 | c.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) | |
5 | g.177260109G>A | CA362303154 | NSD1 | c.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) | |
5 | g.177260109G>C | CA362303152 | NSD1 | c.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) | |
5 | g.177260109G>T | CA362303150 | NSD1 | c.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) | |
5 | g.177260110G>A | CA447726399 | NSD1 | c.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=) | |
5 | g.177260110G>C | CA362303156 | NSD1 | c.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) | |
5 | g.177260110G>T | CA362303158 | NSD1 | c.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) | |
5 | g.177260111C>A | CA447726400 | NSD1 | c.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=) | |
5 | g.177260111C>G | CA362303160 | NSD1 | c.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 |
5 | g.177260111C>T | CA362303163 | NSD1 | c.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 |
5 | g.177260112G>A | CA362303164 | NSD1 | c.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 |
5 | g.177260112G>C | CA362303165 | NSD1 | c.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) | |
5 | g.177260112G>T | CA362303168 | NSD1 | c.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) | |
5 | g.177260115del | CA645560994 | NSD1 | c.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 |
5 | g.177260113G>A | CA447726403 | NSD1 | c.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=) | |
5 | g.177260113G>C | CA447726404 | NSD1 | c.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=) | |
5 | g.177260113G>T | CA447726405 | NSD1 | c.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=) | |
5 | g.177260114G>A | CA362303170 | NSD1 | c.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 |
5 | g.177260114G>C | CA362303172 | NSD1 | c.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) | |
5 | g.177260114G>T | CA362303174 | NSD1 | c.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) | |
5 | g.177260115G>A | CA362303176 | NSD1 | c.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 |
5 | g.177260115G>C | CA362303178 | NSD1 | c.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 |
5 | g.177260115G>T | CA362303180 | NSD1 | c.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 |
5 | g.177260116C>A | CA447726408 | NSD1 | c.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=) | |
5 | g.177260116C>G | CA447726410 | NSD1 | c.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=) | |
5 | g.177260116C>T | CA447726411 | NSD1 | c.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 |
5 | g.177260117T>A | CA362303185 | NSD1 | c.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) | |
5 | g.177260117T>C | CA362303187 | NSD1 | c.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) | |
5 | g.177260117T>G | CA362303182 | NSD1 | c.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) | |
5 | g.177260118G>A | CA362303191 | NSD1 | c.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 |
5 | g.177260118G>C | CA362303189 | NSD1 | c.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) | |
5 | g.177260118G>T | CA362303193 | NSD1 | c.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) | |
5 | g.177260119C>A | CA362303195 | NSD1 | c.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) | |
5 | g.177260119C>G | CA362303197 | NSD1 | c.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 |
5 | g.177260119C>T | CA447726415 | NSD1 | c.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 |
5 | g.177260120C>A | CA447726416 | NSD1 | c.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 |
5 | g.177260120C= | CA1603527233 | NSD1 | c.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=) | |
5 | g.177260120C>G | CA362303199 | NSD1 | c.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) | |
5 | g.177260120C>T | CA294933 | NSD1 | c.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 |
5 | g.177260121G>A | CA362303202 | NSD1 | c.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 |
5 | g.177260121G>C | CA362303205 | NSD1 | c.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) | |
5 | g.177260121G>T | CA362303204 | NSD1 | c.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) | |
5 | g.177260122A>C | CA447726417 | NSD1 | c.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=) | |
5 | g.177260122A>G | CA447726418 | NSD1 | c.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=) | |
5 | g.177260122A>T | CA447726419 | NSD1 | c.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=) | |
5 | g.177260123A>C | CA362303208 | NSD1 | c.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 |
5 | g.177260123A>G | CA362303210 | NSD1 | c.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) | |
5 | g.177260123A>T | CA362303211 | NSD1 | c.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) | |
5 | g.177260124A>C | CA362303213 | NSD1 | c.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) | |
5 | g.177260124A>G | CA362303215 | NSD1 | c.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) | |
5 | g.177260124A>T | CA362303216 | NSD1 | c.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) | |
5 | g.177260125T>A | CA362303220 | NSD1 | c.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) | |
5 | g.177260125T>C | CA3577764 | NSD1 | c.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 |
5 | g.177260125T>G | CA362303219 | NSD1 | c.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) | |
5 | g.177260125T= | CA1603527244 | NSD1 | c.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=) | |
5 | g.177260126C>A | CA362303223 | NSD1 | c.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) | |
5 | g.177260126C>G | CA362303224 | NSD1 | c.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) | |
5 | g.177260126C>T | CA362303227 | NSD1 | c.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) | |
5 | g.177260127A>C | CA362303229 | NSD1 | c.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) | |
5 | g.177260127A>G | CA362303231 | NSD1 | c.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) | |
5 | g.177260127A>T | CA362303233 | NSD1 | c.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) | |
5 | g.177260128T>A | CA362303235 | NSD1 | c.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 |
5 | g.177260128T>C | CA3577765 | NSD1 | c.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 |
5 | g.177260128T>G | CA362303237 | NSD1 | c.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 |
5 | g.177260128T= | CA1603527250 | NSD1 | c.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=) | |
5 | g.177260129G>A | CA362303240 | NSD1 | c.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) | |
5 | g.177260129G>C | CA362303243 | NSD1 | c.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) | |
5 | g.177260129G>T | CA362303244 | NSD1 | c.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) | |
5 | g.177260130A>C | CA362303246 | NSD1 | c.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) | |
5 | g.177260130A>G | CA362303248 | NSD1 | c.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) | |
5 | g.177260130A>T | CA362303250 | NSD1 | c.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) | |
5 | g.177260131G>A | CA447726420 | NSD1 | c.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 |
5 | g.177260131G>C | CA362303252 | NSD1 | c.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) | |
5 | g.177260131G= | CA1603527255 | NSD1 | c.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=) | |
5 | g.177260131G>T | CA362303255 | NSD1 | c.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 |
5 | g.177260132C>A | CA362303257 | NSD1 | c.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) | |
5 | g.177260132C>G | CA362303260 | NSD1 | c.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) | |
5 | g.177260132C>T | CA362303261 | NSD1 | c.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) | |
5 | g.177260132dup | CA16618179 | NSD1 | c.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 |
5 | g.177260133A>C | CA362303264 | NSD1 | c.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) | |
5 | g.177260133A>G | CA362303268 | NSD1 | c.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) | |
5 | g.177260133A>T | CA362303265 | NSD1 | c.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) | |
5 | g.177260134T>A | CA362303270 | NSD1 | c.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) | |
5 | g.177260134T>C | CA447726421 | NSD1 | c.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 |
5 | g.177260134T>G | CA362303272 | NSD1 | c.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) | |
5 | g.177260134T= | CA1603527267 | NSD1 | c.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=) | |
5 | g.177260135G>A | CA362303275 | NSD1 | c.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 |
5 | g.177260135G>C | CA362303276 | NSD1 | c.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) | |
5 | g.177260135G>T | CA362303278 | NSD1 | c.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) | |
5 | g.177260136T>A | CA362303281 | NSD1 | c.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) | |
5 | g.177260136T>C | CA362303282 | NSD1 | c.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) | |
5 | g.177260136T>G | CA362303284 | NSD1 | c.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) | |
5 | g.177260137T>A | CA447726422 | NSD1 | c.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=) | |
5 | g.177260137T>C | CA447726423 | NSD1 | c.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=) | |
5 | g.177260137T>G | CA447726424 | NSD1 | c.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=) | |
5 | g.177260138A>C | CA362303287 | NSD1 | c.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) | |
5 | g.177260138A>G | CA362303289 | NSD1 | c.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) | |
5 | g.177260138A>T | CA362303291 | NSD1 | c.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) | |
5 | g.177260139A>C | CA362303297 | NSD1 | c.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) | |
5 | g.177260139A>G | CA362303295 | NSD1 | c.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) | |
5 | g.177260139A>T | CA362303294 | NSD1 | c.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) | |
5 | g.177260140T>A | CA362303300 | NSD1 | c.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) | |
5 | g.177260140T>C | CA3577766 | NSD1 | c.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 |
5 | g.177260140T>G | CA362303302 | NSD1 | c.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) | |
5 | g.177260140T= | CA1603527272 | NSD1 | c.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=) | |
5 | g.177260141G>A | CA362303304 | NSD1 | c.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) | |
5 | g.177260141G>C | CA362303306 | NSD1 | c.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) | |
5 | g.177260141G>T | CA362303308 | NSD1 | c.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) | |
5 | g.177260142T>A | CA362303310 | NSD1 | c.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 |
5 | g.177260142T>C | CA362303313 | NSD1 | c.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) | |
5 | g.177260142T>G | CA362303314 | NSD1 | c.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) | |
5 | g.177260143T>A | CA447726427 | NSD1 | c.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=) | |
5 | g.177260143T>C | CA447726426 | NSD1 | c.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 |
5 | g.177260143T>G | CA447726425 | NSD1 | c.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=) | |
5 | g.177260143T= | CA1603527275 | NSD1 | c.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=) | |
5 | g.177260144A>C | CA362303317 | NSD1 | c.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) | |
5 | g.177260144A>G | CA362303319 | NSD1 | c.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) | |
5 | g.177260144A>T | CA362303321 | NSD1 | c.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 |
5 | g.177260145G>A | CA362303328 | NSD1 | c.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) | |
5 | g.177260145G>C | CA362303325 | NSD1 | c.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) | |
5 | g.177260145G>T | CA362303324 | NSD1 | c.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) | |
5 | g.177260146C>A | CA362303332 | NSD1 | c.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) | |
5 | g.177260146C= | CA1603527281 | NSD1 | c.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=) | |
5 | g.177260146C>G | CA362303330 | NSD1 | c.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) | |
5 | g.177260146C>T | CA132830215 | NSD1 | c.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 |
5 | g.177260147T>A | CA362303335 | NSD1 | c.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) | |
5 | g.177260147T>C | CA362303337 | NSD1 | c.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) | |
5 | g.177260147T>G | CA362303339 | NSD1 | c.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) | |
5 | g.177260148G>A | CA362303341 | NSD1 | c.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) | |
5 | g.177260148G>C | CA362303343 | NSD1 | c.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) | |
5 | g.177260148G>T | CA362303345 | NSD1 | c.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) | |
5 | g.177260149G>A | CA362303347 | NSD1 | c.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 |
5 | g.177260149G>C | CA362303349 | NSD1 | c.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) | |
5 | g.177260149G>T | CA362303351 | NSD1 | c.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) | |
5 | g.177260150T>A | CA362303354 | NSD1 | c.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) | |
5 | g.177260150T>C | CA362303356 | NSD1 | c.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) | |
5 | g.177260150T>G | CA362303358 | NSD1 | c.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) | |
5 | g.177260151G>A | CA362303364 | NSD1 | c.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) | |
5 | g.177260151G>C | CA362303362 | NSD1 | c.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) | |
5 | g.177260151G= | CA1603527290 | NSD1 | c.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=) | |
5 | g.177260151G>T | CA16042514 | NSD1 | c.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 |
5 | g.177260152C>A | CA362303366 | NSD1 | c.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 |
5 | g.177260152C>G | CA362303367 | NSD1 | c.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) | |
5 | g.177260152C>T | CA447726428 | NSD1 | c.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=) | |
5 | g.177260153T>A | CA362303369 | NSD1 | c.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) | |
5 | g.177260153T>C | CA362303371 | NSD1 | c.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) | |
5 | g.177260153T>G | CA362303373 | NSD1 | c.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) | |
5 | g.177260154T>A | CA362303377 | NSD1 | c.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) | |
5 | g.177260154T>C | CA362303378 | NSD1 | c.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) | |
5 | g.177260154T>G | CA362303381 | NSD1 | c.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) | |
5 | g.177260155T>A | CA362303383 | NSD1 | c.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) | |
5 | g.177260155T>C | CA3577767 | NSD1 | c.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 |
5 | g.177260155T>G | CA362303385 | NSD1 | c.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) | |
5 | g.177260155T= | CA1603527295 | NSD1 | c.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=) | |
5 | g.177260156G>A | CA362303387 | NSD1 | c.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) | |
5 | g.177260156G>C | CA362303388 | NSD1 | c.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) | |
5 | g.177260156G>T | CA362303390 | NSD1 | c.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) | |
5 | g.177260157T>A | CA362303398 | NSD1 | c.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) | |
5 | g.177260157T>C | CA362303399 | NSD1 | c.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) | |
5 | g.177260157T>G | CA362303393 | NSD1 | c.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) | |
5 | g.177260158G>A | CA447726429 | NSD1 | c.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=) | |
5 | g.177260158G>C | CA447726430 | NSD1 | c.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=) | |
5 | g.177260158G>T | CA447726431 | NSD1 | c.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 |
5 | g.177260159T>A | CA362303400 | NSD1 | c.4264T>A (p.Cys1422Ser) n.4720T>A c.4828T>A (p.Cys1610Ser) n.4534T>A n.5284T>A c.5137T>A (p.Cys1713Ser) c.4330T>A (p.Cys1444Ser) c.631T>A (p.Cys211Ser) c.4717T>A (p.Cys1573Ser) c.4081T>A (p.Cys1361Ser) c.871T>A (p.Cys291Ser) | |
5 | g.177260159T>C | CA362303401 | NSD1 | c.4264T>C (p.Cys1422Arg) n.4720T>C c.4828T>C (p.Cys1610Arg) n.4534T>C n.5284T>C c.5137T>C (p.Cys1713Arg) c.4330T>C (p.Cys1444Arg) c.631T>C (p.Cys211Arg) c.4717T>C (p.Cys1573Arg) c.4081T>C (p.Cys1361Arg) c.871T>C (p.Cys291Arg) | |
5 | g.177260159T>G | CA362303402 | NSD1 | c.4264T>G (p.Cys1422Gly) n.4720T>G c.4828T>G (p.Cys1610Gly) n.4534T>G n.5284T>G c.5137T>G (p.Cys1713Gly) c.4330T>G (p.Cys1444Gly) c.631T>G (p.Cys211Gly) c.4717T>G (p.Cys1573Gly) c.4081T>G (p.Cys1361Gly) c.871T>G (p.Cys291Gly) | |
5 | g.177260160G>A | CA362303403 | NSD1 | c.4265G>A (p.Cys1422Tyr) n.4721G>A c.4829G>A (p.Cys1610Tyr) n.4535G>A n.5285G>A c.5138G>A (p.Cys1713Tyr) c.4331G>A (p.Cys1444Tyr) c.632G>A (p.Cys211Tyr) c.4718G>A (p.Cys1573Tyr) c.4082G>A (p.Cys1361Tyr) c.872G>A (p.Cys291Tyr) | dbSNP |
5 | g.177260160G>C | CA362303404 | NSD1 | c.4265G>C (p.Cys1422Ser) n.4721G>C c.4829G>C (p.Cys1610Ser) n.4535G>C n.5285G>C c.5138G>C (p.Cys1713Ser) c.4331G>C (p.Cys1444Ser) c.632G>C (p.Cys211Ser) c.4718G>C (p.Cys1573Ser) c.4082G>C (p.Cys1361Ser) c.872G>C (p.Cys291Ser) | |
5 | g.177260160G>T | CA362303405 | NSD1 | c.4265G>T (p.Cys1422Phe) n.4721G>T c.4829G>T (p.Cys1610Phe) n.4535G>T n.5285G>T c.5138G>T (p.Cys1713Phe) c.4331G>T (p.Cys1444Phe) c.632G>T (p.Cys211Phe) c.4718G>T (p.Cys1573Phe) c.4082G>T (p.Cys1361Phe) c.872G>T (p.Cys291Phe) | |
5 | g.177260161C>A | CA362303408 | NSD1 | c.4266C>A (p.Cys1422Ter) n.4722C>A c.4830C>A (p.Cys1610Ter) n.4536C>A n.5286C>A c.5139C>A (p.Cys1713Ter) c.4332C>A (p.Cys1444Ter) c.633C>A (p.Cys211Ter) c.4719C>A (p.Cys1573Ter) c.4083C>A (p.Cys1361Ter) c.873C>A (p.Cys291Ter) | |
5 | g.177260161C>G | CA362303406 | NSD1 | c.4266C>G (p.Cys1422Trp) n.4722C>G c.4830C>G (p.Cys1610Trp) n.4536C>G n.5286C>G c.5139C>G (p.Cys1713Trp) c.4332C>G (p.Cys1444Trp) c.633C>G (p.Cys211Trp) c.4719C>G (p.Cys1573Trp) c.4083C>G (p.Cys1361Trp) c.873C>G (p.Cys291Trp) | |
5 | g.177260161C>T | CA447726432 | NSD1 | c.4266C>T (p.Cys1422=) n.4722C>T c.4830C>T (p.Cys1610=) n.4536C>T n.5286C>T c.5139C>T (p.Cys1713=) c.4332C>T (p.Cys1444=) c.633C>T (p.Cys211=) c.4719C>T (p.Cys1573=) c.4083C>T (p.Cys1361=) c.873C>T (p.Cys291=) | COSMIC COSMIC |
5 | g.177260162T>A | CA362303411 | NSD1 | c.4267T>A (p.Ser1423Thr) n.4723T>A c.4831T>A (p.Ser1611Thr) n.4537T>A n.5287T>A c.5140T>A (p.Ser1714Thr) c.4333T>A (p.Ser1445Thr) c.634T>A (p.Ser212Thr) c.4720T>A (p.Ser1574Thr) c.4084T>A (p.Ser1362Thr) c.874T>A (p.Ser292Thr) | dbSNP |
5 | g.177260162T>C | CA362303413 | NSD1 | c.4267T>C (p.Ser1423Pro) n.4723T>C c.4831T>C (p.Ser1611Pro) n.4537T>C n.5287T>C c.5140T>C (p.Ser1714Pro) c.4333T>C (p.Ser1445Pro) c.634T>C (p.Ser212Pro) c.4720T>C (p.Ser1574Pro) c.4084T>C (p.Ser1362Pro) c.874T>C (p.Ser292Pro) | |
5 | g.177260162T>G | CA362303415 | NSD1 | c.4267T>G (p.Ser1423Ala) n.4723T>G c.4831T>G (p.Ser1611Ala) n.4537T>G n.5287T>G c.5140T>G (p.Ser1714Ala) c.4333T>G (p.Ser1445Ala) c.634T>G (p.Ser212Ala) c.4720T>G (p.Ser1574Ala) c.4084T>G (p.Ser1362Ala) c.874T>G (p.Ser292Ala) | |
5 | g.177260163C>A | CA362303417 | NSD1 | c.4268C>A (p.Ser1423Ter) n.4724C>A c.4832C>A (p.Ser1611Ter) n.4538C>A n.5288C>A c.5141C>A (p.Ser1714Ter) c.4334C>A (p.Ser1445Ter) c.635C>A (p.Ser212Ter) c.4721C>A (p.Ser1574Ter) c.4085C>A (p.Ser1362Ter) c.875C>A (p.Ser292Ter) | |
5 | g.177260163C= | CA1603527299 | NSD1 | c.4268C= (p.Ser1423=) n.4724C= c.4832C= (p.Ser1611=) n.4538C= n.5288C= c.5141C= (p.Ser1714=) c.4334C= (p.Ser1445=) c.635C= (p.Ser212=) c.4721C= (p.Ser1574=) c.4085C= (p.Ser1362=) c.875C= (p.Ser292=) | |
5 | g.177260163C>G | CA294936 | NSD1 | c.4268C>G (p.Ser1423Ter) n.4724C>G c.4832C>G (p.Ser1611Ter) n.4538C>G n.5288C>G c.5141C>G (p.Ser1714Ter) c.4334C>G (p.Ser1445Ter) c.635C>G (p.Ser212Ter) c.4721C>G (p.Ser1574Ter) c.4085C>G (p.Ser1362Ter) c.875C>G (p.Ser292Ter) | ClinVar dbSNP |
5 | g.177260163C>T | CA362303419 | NSD1 | c.4268C>T (p.Ser1423Leu) n.4724C>T c.4832C>T (p.Ser1611Leu) n.4538C>T n.5288C>T c.5141C>T (p.Ser1714Leu) c.4334C>T (p.Ser1445Leu) c.635C>T (p.Ser212Leu) c.4721C>T (p.Ser1574Leu) c.4085C>T (p.Ser1362Leu) c.875C>T (p.Ser292Leu) | |
5 | g.177260164A= | CA1603527309 | NSD1 | c.4269A= (p.Ser1423=) n.4725A= c.4833A= (p.Ser1611=) n.4539A= n.5289A= c.5142A= (p.Ser1714=) c.4335A= (p.Ser1445=) c.636A= (p.Ser212=) c.4722A= (p.Ser1574=) c.4086A= (p.Ser1362=) c.876A= (p.Ser292=) | |
5 | g.177260164A>C | CA447726433 | NSD1 | c.4269A>C (p.Ser1423=) n.4725A>C c.4833A>C (p.Ser1611=) n.4539A>C n.5289A>C c.5142A>C (p.Ser1714=) c.4335A>C (p.Ser1445=) c.636A>C (p.Ser212=) c.4722A>C (p.Ser1574=) c.4086A>C (p.Ser1362=) c.876A>C (p.Ser292=) | |
5 | g.177260164A>G | CA447726435 | NSD1 | c.4269A>G (p.Ser1423=) n.4725A>G c.4833A>G (p.Ser1611=) n.4539A>G n.5289A>G c.5142A>G (p.Ser1714=) c.4335A>G (p.Ser1445=) c.636A>G (p.Ser212=) c.4722A>G (p.Ser1574=) c.4086A>G (p.Ser1362=) c.876A>G (p.Ser292=) | |
5 | g.177260164A>T | CA447726434 | NSD1 | c.4269A>T (p.Ser1423=) n.4725A>T c.4833A>T (p.Ser1611=) n.4539A>T n.5289A>T c.5142A>T (p.Ser1714=) c.4335A>T (p.Ser1445=) c.636A>T (p.Ser212=) c.4722A>T (p.Ser1574=) c.4086A>T (p.Ser1362=) c.876A>T (p.Ser292=) | dbSNP |
5 | g.177260165G>A | CA362303420 | NSD1 | c.4270G>A (p.Glu1424Lys) n.4726G>A c.4834G>A (p.Glu1612Lys) n.4540G>A n.5290G>A c.5143G>A (p.Glu1715Lys) c.4336G>A (p.Glu1446Lys) c.637G>A (p.Glu213Lys) c.4723G>A (p.Glu1575Lys) c.4087G>A (p.Glu1363Lys) c.877G>A (p.Glu293Lys) | |
5 | g.177260165G>C | CA362303422 | NSD1 | c.4270G>C (p.Glu1424Gln) n.4726G>C c.4834G>C (p.Glu1612Gln) n.4540G>C n.5290G>C c.5143G>C (p.Glu1715Gln) c.4336G>C (p.Glu1446Gln) c.637G>C (p.Glu213Gln) c.4723G>C (p.Glu1575Gln) c.4087G>C (p.Glu1363Gln) c.877G>C (p.Glu293Gln) | |
5 | g.177260165G>T | CA362303421 | NSD1 | c.4270G>T (p.Glu1424Ter) n.4726G>T c.4834G>T (p.Glu1612Ter) n.4540G>T n.5290G>T c.5143G>T (p.Glu1715Ter) c.4336G>T (p.Glu1446Ter) c.637G>T (p.Glu213Ter) c.4723G>T (p.Glu1575Ter) c.4087G>T (p.Glu1363Ter) c.877G>T (p.Glu293Ter) | ClinVar |
5 | g.177260166A>C | CA362303424 | NSD1 | c.4271A>C (p.Glu1424Ala) n.4727A>C c.4835A>C (p.Glu1612Ala) n.4541A>C n.5291A>C c.5144A>C (p.Glu1715Ala) c.4337A>C (p.Glu1446Ala) c.638A>C (p.Glu213Ala) c.4724A>C (p.Glu1575Ala) c.4088A>C (p.Glu1363Ala) c.878A>C (p.Glu293Ala) | |
5 | g.177260166A>G | CA362303426 | NSD1 | c.4271A>G (p.Glu1424Gly) n.4727A>G c.4835A>G (p.Glu1612Gly) n.4541A>G n.5291A>G c.5144A>G (p.Glu1715Gly) c.4337A>G (p.Glu1446Gly) c.638A>G (p.Glu213Gly) c.4724A>G (p.Glu1575Gly) c.4088A>G (p.Glu1363Gly) c.878A>G (p.Glu293Gly) | |
5 | g.177260166A>T | CA362303428 | NSD1 | c.4271A>T (p.Glu1424Val) n.4727A>T c.4835A>T (p.Glu1612Val) n.4541A>T n.5291A>T c.5144A>T (p.Glu1715Val) c.4337A>T (p.Glu1446Val) c.638A>T (p.Glu213Val) c.4724A>T (p.Glu1575Val) c.4088A>T (p.Glu1363Val) c.878A>T (p.Glu293Val) | |
5 | g.177260167A>C | CA362303432 | NSD1 | c.4272A>C (p.Glu1424Asp) n.4728A>C c.4836A>C (p.Glu1612Asp) n.4542A>C n.5292A>C c.5145A>C (p.Glu1715Asp) c.4338A>C (p.Glu1446Asp) c.639A>C (p.Glu213Asp) c.4725A>C (p.Glu1575Asp) c.4089A>C (p.Glu1363Asp) c.879A>C (p.Glu293Asp) | |
5 | g.177260167A>G | CA447726436 | NSD1 | c.4272A>G (p.Glu1424=) n.4728A>G c.4836A>G (p.Glu1612=) n.4542A>G n.5292A>G c.5145A>G (p.Glu1715=) c.4338A>G (p.Glu1446=) c.639A>G (p.Glu213=) c.4725A>G (p.Glu1575=) c.4089A>G (p.Glu1363=) c.879A>G (p.Glu293=) | COSMIC COSMIC |
5 | g.177260167A>T | CA362303433 | NSD1 | c.4272A>T (p.Glu1424Asp) n.4728A>T c.4836A>T (p.Glu1612Asp) n.4542A>T n.5292A>T c.5145A>T (p.Glu1715Asp) c.4338A>T (p.Glu1446Asp) c.639A>T (p.Glu213Asp) c.4725A>T (p.Glu1575Asp) c.4089A>T (p.Glu1363Asp) c.879A>T (p.Glu293Asp) | |
5 | g.177260168G>A | CA362303436 | NSD1 | c.4273G>A (p.Gly1425Arg) n.4729G>A c.4837G>A (p.Gly1613Arg) n.4543G>A n.5293G>A c.5146G>A (p.Gly1716Arg) c.4339G>A (p.Gly1447Arg) c.640G>A (p.Gly214Arg) c.4726G>A (p.Gly1576Arg) c.4090G>A (p.Gly1364Arg) c.5146G>A (p.Asp1716Asn) c.880G>A (p.Gly294Arg) | dbSNP |
5 | g.177260168G>C | CA362303438 | NSD1 | c.4273G>C (p.Gly1425Arg) n.4729G>C c.4837G>C (p.Gly1613Arg) n.4543G>C n.5293G>C c.5146G>C (p.Gly1716Arg) c.4339G>C (p.Gly1447Arg) c.640G>C (p.Gly214Arg) c.4726G>C (p.Gly1576Arg) c.4090G>C (p.Gly1364Arg) c.5146G>C (p.Asp1716His) c.880G>C (p.Gly294Arg) | |
5 | g.177260168G>T | CA362303439 | NSD1 | c.4273G>T (p.Gly1425Ter) n.4729G>T c.4837G>T (p.Gly1613Ter) n.4543G>T n.5293G>T c.5146G>T (p.Gly1716Ter) c.4339G>T (p.Gly1447Ter) c.640G>T (p.Gly214Ter) c.4726G>T (p.Gly1576Ter) c.4090G>T (p.Gly1364Ter) c.5146G>T (p.Asp1716Tyr) c.880G>T (p.Gly294Ter) |