Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.90761167_90761170del | CA2573151483 | BLM | c.1794_1797del (p.Glu598AspfsTer19) c.*718_*721del (n.*718_*721del) c.669_672del (p.Glu223AspfsTer19) c.480_483del (p.Glu160AspfsTer19) | ClinVar dbSNP |
15 | g.90761168del | CA16041774 | BLM | c.1795del (p.Arg599AspfsTer19) c.*719del (n.*719del) c.670del (p.Arg224AspfsTer19) c.481del (p.Arg161AspfsTer19) | ClinVar dbSNP |
15 | g.90761168A>C | CA492301832 | BLM | c.1795A>C (p.Arg599=) c.*719A>C (n.*719A>C) c.670A>C (p.Arg224=) c.481A>C (p.Arg161=) | |
15 | g.90761168A>G | CA393843858 | BLM | c.1795A>G (p.Arg599Gly) c.*719A>G (n.*719A>G) c.670A>G (p.Arg224Gly) c.481A>G (p.Arg161Gly) | |
15 | g.90761168A>T | CA393843859 | BLM | c.1795A>T (p.Arg599Ter) c.*719A>T (n.*719A>T) c.670A>T (p.Arg224Ter) c.481A>T (p.Arg161Ter) | |
15 | g.90761169G>A | CA393843860 | BLM | c.1796G>A (p.Arg599Lys) c.*720G>A (n.*720G>A) c.671G>A (p.Arg224Lys) c.482G>A (p.Arg161Lys) | dbSNP |
15 | g.90761169G>C | CA393843861 | BLM | c.1796G>C (p.Arg599Thr) c.*720G>C (n.*720G>C) c.671G>C (p.Arg224Thr) c.482G>C (p.Arg161Thr) | ClinVar dbSNP |
15 | g.90761169G>T | CA393843862 | BLM | c.1796G>T (p.Arg599Ile) c.*720G>T (n.*720G>T) c.671G>T (p.Arg224Ile) c.482G>T (p.Arg161Ile) | |
15 | g.90761170A= | CA2195277290 | BLM | c.1797A= (p.Arg599=) c.*721A= (n.*721A=) c.672A= (p.Arg224=) c.483A= (p.Arg161=) | |
15 | g.90761170A>C | CA393843863 | BLM | c.1797A>C (p.Arg599Ser) c.*721A>C (n.*721A>C) c.672A>C (p.Arg224Ser) c.483A>C (p.Arg161Ser) | |
15 | g.90761170A>G | CA7738588 | BLM | c.1797A>G (p.Arg599=) c.*721A>G (n.*721A>G) c.672A>G (p.Arg224=) c.483A>G (p.Arg161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90761170A>T | CA393843864 | BLM | c.1797A>T (p.Arg599Ser) c.*721A>T (n.*721A>T) c.672A>T (p.Arg224Ser) c.483A>T (p.Arg161Ser) | |
15 | g.90761171C>A | CA393843867 | BLM | c.1798C>A (p.Leu600Ile) c.*722C>A (n.*722C>A) c.673C>A (p.Leu225Ile) c.484C>A (p.Leu162Ile) | gnomAD v3 gnomAD v4 |
15 | g.90761171C= | CA2195277292 | BLM | c.1798C= (p.Leu600=) c.*722C= (n.*722C=) c.673C= (p.Leu225=) c.484C= (p.Leu162=) | |
15 | g.90761171C>G | CA393843866 | BLM | c.1798C>G (p.Leu600Val) c.*722C>G (n.*722C>G) c.673C>G (p.Leu225Val) c.484C>G (p.Leu162Val) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.90761171C>T | CA393843865 | BLM | c.1798C>T (p.Leu600Phe) c.*722C>T (n.*722C>T) c.673C>T (p.Leu225Phe) c.484C>T (p.Leu162Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
15 | g.90761172T>A | CA393843868 | BLM | c.1799T>A (p.Leu600His) c.*723T>A (n.*723T>A) c.674T>A (p.Leu225His) c.485T>A (p.Leu162His) | |
15 | g.90761172T>C | CA393843869 | BLM | c.1799T>C (p.Leu600Pro) c.*723T>C (n.*723T>C) c.674T>C (p.Leu225Pro) c.485T>C (p.Leu162Pro) | ClinVar |
15 | g.90761172T>G | CA393843870 | BLM | c.1799T>G (p.Leu600Arg) c.*723T>G (n.*723T>G) c.674T>G (p.Leu225Arg) c.485T>G (p.Leu162Arg) | |
15 | g.90761173T>A | CA492301836 | BLM | c.1800T>A (p.Leu600=) c.*724T>A (n.*724T>A) c.675T>A (p.Leu225=) c.486T>A (p.Leu162=) | |
15 | g.90761173T>C | CA492301837 | BLM | c.1800T>C (p.Leu600=) c.*724T>C (n.*724T>C) c.675T>C (p.Leu225=) c.486T>C (p.Leu162=) | |
15 | g.90761173T>G | CA492301838 | BLM | c.1800T>G (p.Leu600=) c.*724T>G (n.*724T>G) c.675T>G (p.Leu225=) c.486T>G (p.Leu162=) | |
15 | g.90761174T>A | CA393843871 | BLM | c.1801T>A (p.Ser601Thr) c.*725T>A (n.*725T>A) c.676T>A (p.Ser226Thr) c.487T>A (p.Ser163Thr) | |
15 | g.90761174T>C | CA274738455 | BLM | c.1801T>C (p.Ser601Pro) c.*725T>C (n.*725T>C) c.676T>C (p.Ser226Pro) c.487T>C (p.Ser163Pro) | dbSNP gnomAD v4 |
15 | g.90761174T>G | CA393843872 | BLM | c.1801T>G (p.Ser601Ala) c.*725T>G (n.*725T>G) c.676T>G (p.Ser226Ala) c.487T>G (p.Ser163Ala) | |
15 | g.90761174T= | CA2195277294 | BLM | c.1801T= (p.Ser601=) c.*725T= (n.*725T=) c.676T= (p.Ser226=) c.487T= (p.Ser163=) | |
15 | g.90761175C>A | CA393843873 | BLM | c.1802C>A (p.Ser601Tyr) c.*726C>A (n.*726C>A) c.677C>A (p.Ser226Tyr) c.488C>A (p.Ser163Tyr) | ClinVar dbSNP COSMIC |
15 | g.90761175C= | CA2195277297 | BLM | c.1802C= (p.Ser601=) c.*726C= (n.*726C=) c.677C= (p.Ser226=) c.488C= (p.Ser163=) | |
15 | g.90761175C>G | CA274738459 | BLM | c.1802C>G (p.Ser601Cys) c.*726C>G (n.*726C>G) c.677C>G (p.Ser226Cys) c.488C>G (p.Ser163Cys) | ClinVar dbSNP |
15 | g.90761175C>T | CA393843874 | BLM | c.1802C>T (p.Ser601Phe) c.*726C>T (n.*726C>T) c.677C>T (p.Ser226Phe) c.488C>T (p.Ser163Phe) | ClinVar dbSNP |
15 | g.90761176C>A | CA492301843 | BLM | c.1803C>A (p.Ser601=) c.*727C>A (n.*727C>A) c.678C>A (p.Ser226=) c.489C>A (p.Ser163=) | dbSNP |
15 | g.90761176C>G | CA492301842 | BLM | c.1803C>G (p.Ser601=) c.*727C>G (n.*727C>G) c.678C>G (p.Ser226=) c.489C>G (p.Ser163=) | |
15 | g.90761176C>T | CA492301841 | BLM | c.1803C>T (p.Ser601=) c.*727C>T (n.*727C>T) c.678C>T (p.Ser226=) c.489C>T (p.Ser163=) | ClinVar gnomAD v3 gnomAD v4 |
15 | g.90761177T>A | CA393843875 | BLM | c.1804T>A (p.Ser602Thr) c.*728T>A (n.*728T>A) c.679T>A (p.Ser227Thr) c.490T>A (p.Ser164Thr) | |
15 | g.90761177T>C | CA393843876 | BLM | c.1804T>C (p.Ser602Pro) c.*728T>C (n.*728T>C) c.679T>C (p.Ser227Pro) c.490T>C (p.Ser164Pro) | dbSNP |
15 | g.90761177T>G | CA393843877 | BLM | c.1804T>G (p.Ser602Ala) c.*728T>G (n.*728T>G) c.679T>G (p.Ser227Ala) c.490T>G (p.Ser164Ala) | ClinVar dbSNP |
15 | g.90761177T= | CA2195277299 | BLM | c.1804T= (p.Ser602=) c.*728T= (n.*728T=) c.679T= (p.Ser227=) c.490T= (p.Ser164=) | |
15 | g.90761178C>A | CA393843878 | BLM | c.1805C>A (p.Ser602Ter) c.*729C>A (n.*729C>A) c.680C>A (p.Ser227Ter) c.491C>A (p.Ser164Ter) | ClinVar |
15 | g.90761178C>G | CA393843879 | BLM | c.1805C>G (p.Ser602Ter) c.*729C>G (n.*729C>G) c.680C>G (p.Ser227Ter) c.491C>G (p.Ser164Ter) | |
15 | g.90761178C>T | CA393843880 | BLM | c.1805C>T (p.Ser602Leu) c.*729C>T (n.*729C>T) c.680C>T (p.Ser227Leu) c.491C>T (p.Ser164Leu) | ClinVar dbSNP |
15 | g.90761179A>C | CA492301847 | BLM | c.1806A>C (p.Ser602=) c.*730A>C (n.*730A>C) c.681A>C (p.Ser227=) c.492A>C (p.Ser164=) | |
15 | g.90761179A>G | CA492301848 | BLM | c.1806A>G (p.Ser602=) c.*730A>G (n.*730A>G) c.681A>G (p.Ser227=) c.492A>G (p.Ser164=) | ClinVar COSMIC |
15 | g.90761179A>T | CA492301849 | BLM | c.1806A>T (p.Ser602=) c.*730A>T (n.*730A>T) c.681A>T (p.Ser227=) c.492A>T (p.Ser164=) | |
15 | g.90761180G>A | CA393843882 | BLM | c.1807G>A (p.Ala603Thr) c.*731G>A (n.*731G>A) c.682G>A (p.Ala228Thr) c.493G>A (p.Ala165Thr) | dbSNP |
15 | g.90761180G>C | CA393843883 | BLM | c.1807G>C (p.Ala603Pro) c.*731G>C (n.*731G>C) c.682G>C (p.Ala228Pro) c.493G>C (p.Ala165Pro) | dbSNP |
15 | g.90761180G= | CA2195277301 | BLM | c.1807G= (p.Ala603=) c.*731G= (n.*731G=) c.682G= (p.Ala228=) c.493G= (p.Ala165=) | |
15 | g.90761180G>T | CA393843881 | BLM | c.1807G>T (p.Ala603Ser) c.*731G>T (n.*731G>T) c.682G>T (p.Ala228Ser) c.493G>T (p.Ala165Ser) | |
15 | g.90761181C>A | CA393843884 | BLM | c.1808C>A (p.Ala603Asp) c.*732C>A (n.*732C>A) c.683C>A (p.Ala228Asp) c.494C>A (p.Ala165Asp) | ClinVar dbSNP |
15 | g.90761181C= | CA2195277303 | BLM | c.1808C= (p.Ala603=) c.*732C= (n.*732C=) c.683C= (p.Ala228=) c.494C= (p.Ala165=) | |
15 | g.90761181C>G | CA393843885 | BLM | c.1808C>G (p.Ala603Gly) c.*732C>G (n.*732C>G) c.683C>G (p.Ala228Gly) c.494C>G (p.Ala165Gly) | ClinVar dbSNP |