Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.43352668A= | CA1149120601 | MPL | c.1804A= (p.Met602=) c.1783A= (p.Met595=) c.462A= c.1975A= (p.Met659=) | |
1 | g.43352668A>C | CA339994447 | MPL | c.1804A>C (p.Met602Leu) c.1783A>C (p.Met595Leu) c.462A>C c.1975A>C (p.Met659Leu) | |
1 | g.43352668A>G | CA807028 | MPL | c.1804A>G (p.Met602Val) c.1783A>G (p.Met595Val) c.462A>G c.1975A>G (p.Met659Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43352668A>T | CA339994448 | MPL | c.1804A>T (p.Met602Leu) c.1783A>T (p.Met595Leu) c.462A>T c.1975A>T (p.Met659Leu) | |
1 | g.43352669T>A | CA339994458 | MPL | c.1805T>A (p.Met602Lys) c.1784T>A (p.Met595Lys) c.463T>A c.1976T>A (p.Met659Lys) | |
1 | g.43352669T>C | CA807029 | MPL | c.1805T>C (p.Met602Thr) c.1784T>C (p.Met595Thr) c.463T>C c.1976T>C (p.Met659Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43352669T>G | CA339994465 | MPL | c.1805T>G (p.Met602Arg) c.1784T>G (p.Met595Arg) c.463T>G c.1976T>G (p.Met659Arg) | |
1 | g.43352669T= | CA1165581393 | MPL | c.1805T= (p.Met602=) c.1784T= (p.Met595=) c.463T= c.1976T= (p.Met659=) | |
1 | g.43352670G>A | CA339994468 | MPL | c.1806G>A (p.Met602Ile) c.1785G>A (p.Met595Ile) c.464G>A c.1977G>A (p.Met659Ile) | dbSNP gnomAD v4 |
1 | g.43352670G>C | CA339994470 | MPL | c.1806G>C (p.Met602Ile) c.1785G>C (p.Met595Ile) c.464G>C c.1977G>C (p.Met659Ile) | |
1 | g.43352670G= | CA1165581394 | MPL | c.1806G= (p.Met602=) c.1785G= (p.Met595=) c.464G= c.1977G= (p.Met659=) | |
1 | g.43352670G>T | CA339994474 | MPL | c.1806G>T (p.Met602Ile) c.1785G>T (p.Met595Ile) c.464G>T c.1977G>T (p.Met659Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43352671C>A | CA339994483 | MPL | c.1807C>A (p.Pro603Thr) c.1786C>A (p.Pro596Thr) c.465C>A c.1978C>A (p.Pro660Thr) | |
1 | g.43352671C>G | CA339994485 | MPL | c.1807C>G (p.Pro603Ala) c.1786C>G (p.Pro596Ala) c.465C>G c.1978C>G (p.Pro660Ala) | |
1 | g.43352671C>T | CA339994489 | MPL | c.1807C>T (p.Pro603Ser) c.1786C>T (p.Pro596Ser) c.465C>T c.1978C>T (p.Pro660Ser) | dbSNP |
1 | g.43352674dup | CA2740090667 | MPL | c.1810dup (p.Leu604ProfsTer9) c.1789dup (p.Leu597ProfsTer9) c.468dup c.1981dup (p.Leu661ProfsTer9) | ClinVar |
1 | g.43352672C>A | CA339994493 | MPL | c.1808C>A (p.Pro603His) c.1787C>A (p.Pro596His) c.466C>A c.1979C>A (p.Pro660His) | dbSNP |
1 | g.43352672C>G | CA339994498 | MPL | c.1808C>G (p.Pro603Arg) c.1787C>G (p.Pro596Arg) c.466C>G c.1979C>G (p.Pro660Arg) | |
1 | g.43352672C>T | CA339994502 | MPL | c.1808C>T (p.Pro603Leu) c.1787C>T (p.Pro596Leu) c.466C>T c.1979C>T (p.Pro660Leu) | |
1 | g.43352673C>A | CA21616485 | MPL | c.1809C>A (p.Pro603=) c.1788C>A (p.Pro596=) c.467C>A c.1980C>A (p.Pro660=) | dbSNP |
1 | g.43352673C= | CA1144001315 | MPL | c.1809C= (p.Pro603=) c.1788C= (p.Pro596=) c.467C= c.1980C= (p.Pro660=) | |
1 | g.43352673C>G | CA417428388 | MPL | c.1809C>G (p.Pro603=) c.1788C>G (p.Pro596=) c.467C>G c.1980C>G (p.Pro660=) | ClinVar dbSNP |
1 | g.43352673C>T | CA417428389 | MPL | c.1809C>T (p.Pro603=) c.1788C>T (p.Pro596=) c.467C>T c.1980C>T (p.Pro660=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43352673_43352677delinsCCTGT | CA1165581395 | MPL | c.1809_1813delinsCCTGT (p.Pro603=) c.1788_1792delinsCCTGT (p.Pro596=) c.467_471delinsCCTGT c.1980_1984delinsCCTGT (p.Pro660=) | |
1 | g.43352674C>A | CA339994510 | MPL | c.1810C>A (p.Leu604Met) c.1789C>A (p.Leu597Met) c.468C>A c.1981C>A (p.Leu661Met) | |
1 | g.43352674C>G | CA339994507 | MPL | c.1810C>G (p.Leu604Val) c.1789C>G (p.Leu597Val) c.468C>G c.1981C>G (p.Leu661Val) | |
1 | g.43352674C>T | CA417428392 | MPL | c.1810C>T (p.Leu604=) c.1789C>T (p.Leu597=) c.468C>T c.1981C>T (p.Leu661=) | |
1 | g.43352674_43352675del | CA2574340894 | MPL | c.1810_1811del (p.Leu604ValfsTer8) c.1789_1790del (p.Leu597ValfsTer8) c.468_469del c.1981_1982del (p.Leu661ValfsTer8) | ClinVar gnomAD v4 |
1 | g.43352678_43352681del | CA522806116 | MPL | c.1814_1817del (p.Ser605CysfsTer24) c.1793_1796del (p.Ser598CysfsTer24) c.472_475del c.1985_1988del (p.Ser662CysfsTer24) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.43352675T>A | CA339994511 | MPL | c.1811T>A (p.Leu604Gln) c.1790T>A (p.Leu597Gln) c.469T>A c.1982T>A (p.Leu661Gln) | |
1 | g.43352675T>C | CA339994512 | MPL | c.1811T>C (p.Leu604Pro) c.1790T>C (p.Leu597Pro) c.469T>C c.1982T>C (p.Leu661Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43352675T>G | CA339994515 | MPL | c.1811T>G (p.Leu604Arg) c.1790T>G (p.Leu597Arg) c.469T>G c.1982T>G (p.Leu661Arg) | |
1 | g.43352675T= | CA1165581396 | MPL | c.1811T= (p.Leu604=) c.1790T= (p.Leu597=) c.469T= c.1982T= (p.Leu661=) | |
1 | g.43352676G>A | CA417428393 | MPL | c.1812G>A (p.Leu604=) c.1791G>A (p.Leu597=) c.470G>A c.1983G>A (p.Leu661=) | dbSNP |
1 | g.43352676G>C | CA417428395 | MPL | c.1812G>C (p.Leu604=) c.1791G>C (p.Leu597=) c.470G>C c.1983G>C (p.Leu661=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43352676G= | CA1165581397 | MPL | c.1812G= (p.Leu604=) c.1791G= (p.Leu597=) c.470G= c.1983G= (p.Leu661=) | |
1 | g.43352676G>T | CA417428396 | MPL | c.1812G>T (p.Leu604=) c.1791G>T (p.Leu597=) c.470G>T c.1983G>T (p.Leu661=) | |
1 | g.43352677T>A | CA339994520 | MPL | c.1813T>A (p.Ser605Thr) c.1792T>A (p.Ser598Thr) c.471T>A c.1984T>A (p.Ser662Thr) | |
1 | g.43352677T>C | CA339994522 | MPL | c.1813T>C (p.Ser605Pro) c.1792T>C (p.Ser598Pro) c.471T>C c.1984T>C (p.Ser662Pro) | |
1 | g.43352677T>G | CA339994525 | MPL | c.1813T>G (p.Ser605Ala) c.1792T>G (p.Ser598Ala) c.471T>G c.1984T>G (p.Ser662Ala) | |
1 | g.43352678C>A | CA339994528 | MPL | c.1814C>A (p.Ser605Tyr) c.1793C>A (p.Ser598Tyr) c.472C>A c.1985C>A (p.Ser662Tyr) | dbSNP |
1 | g.43352678C>G | CA339994530 | MPL | c.1814C>G (p.Ser605Cys) c.1793C>G (p.Ser598Cys) c.472C>G c.1985C>G (p.Ser662Cys) | |
1 | g.43352678C>T | CA339994542 | MPL | c.1814C>T (p.Ser605Phe) c.1793C>T (p.Ser598Phe) c.472C>T c.1985C>T (p.Ser662Phe) | |
1 | g.43352679T>A | CA417428400 | MPL | c.1815T>A (p.Ser605=) c.1794T>A (p.Ser598=) c.473T>A c.1986T>A (p.Ser662=) | |
1 | g.43352679T>C | CA807030 | MPL | c.1815T>C (p.Ser605=) c.1794T>C (p.Ser598=) c.473T>C c.1986T>C (p.Ser662=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43352679T>G | CA417428401 | MPL | c.1815T>G (p.Ser605=) c.1794T>G (p.Ser598=) c.473T>G c.1986T>G (p.Ser662=) | |
1 | g.43352679T= | CA1165581398 | MPL | c.1815T= (p.Ser605=) c.1794T= (p.Ser598=) c.473T= c.1986T= (p.Ser662=) | |
1 | g.43352680G>A | CA21616489 | MPL | c.1816G>A (p.Val606Met) c.1795G>A (p.Val599Met) c.474G>A c.1987G>A (p.Val663Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43352680G>C | CA339994552 | MPL | c.1816G>C (p.Val606Leu) c.1795G>C (p.Val599Leu) c.474G>C c.1987G>C (p.Val663Leu) | |
1 | g.43352680G= | CA1165581399 | MPL | c.1816G= (p.Val606=) c.1795G= (p.Val599=) c.474G= c.1987G= (p.Val663=) |