UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 15 | g.90761181C>T | CA393843886 | BLM | c.1808C>T (p.Ala603Val) c.*732C>T (n.*732C>T) c.683C>T (p.Ala228Val) c.494C>T (p.Ala165Val) | dbSNP |
| 15 | g.90761182C>A | CA492301851 | BLM | c.1809C>A (p.Ala603=) c.*733C>A (n.*733C>A) c.684C>A (p.Ala228=) c.495C>A (p.Ala165=) | |
| 15 | g.90761182C= | CA2195277305 | BLM | c.1809C= (p.Ala603=) c.*733C= (n.*733C=) c.684C= (p.Ala228=) c.495C= (p.Ala165=) | |
| 15 | g.90761182C>G | CA492301853 | BLM | c.1809C>G (p.Ala603=) c.*733C>G (n.*733C>G) c.684C>G (p.Ala228=) c.495C>G (p.Ala165=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761182C>T | CA492301852 | BLM | c.1809C>T (p.Ala603=) c.*733C>T (n.*733C>T) c.684C>T (p.Ala228=) c.495C>T (p.Ala165=) | |
| 15 | g.90761183A>C | CA393843887 | BLM | c.1810A>C (p.Lys604Gln) c.*734A>C (n.*734A>C) c.685A>C (p.Lys229Gln) c.496A>C (p.Lys166Gln) | |
| 15 | g.90761183A>G | CA393843888 | BLM | c.1810A>G (p.Lys604Glu) c.*734A>G (n.*734A>G) c.685A>G (p.Lys229Glu) c.496A>G (p.Lys166Glu) | ClinVar gnomAD v4 |
| 15 | g.90761183A>T | CA393843889 | BLM | c.1810A>T (p.Lys604Ter) c.*734A>T (n.*734A>T) c.685A>T (p.Lys229Ter) c.496A>T (p.Lys166Ter) | |
| 15 | g.90761184A>C | CA393843892 | BLM | c.1811A>C (p.Lys604Thr) c.*735A>C (n.*735A>C) c.686A>C (p.Lys229Thr) c.497A>C (p.Lys166Thr) | |
| 15 | g.90761184A>G | CA393843890 | BLM | c.1811A>G (p.Lys604Arg) c.*735A>G (n.*735A>G) c.686A>G (p.Lys229Arg) c.497A>G (p.Lys166Arg) | |
| 15 | g.90761184A>T | CA393843891 | BLM | c.1811A>T (p.Lys604Met) c.*735A>T (n.*735A>T) c.686A>T (p.Lys229Met) c.497A>T (p.Lys166Met) | |
| 15 | g.90761185G>A | CA492301857 | BLM | c.1812G>A (p.Lys604=) c.*736G>A (n.*736G>A) c.687G>A (p.Lys229=) c.498G>A (p.Lys166=) | ClinVar |
| 15 | g.90761185G>C | CA393843893 | BLM | c.1812G>C (p.Lys604Asn) c.*736G>C (n.*736G>C) c.687G>C (p.Lys229Asn) c.498G>C (p.Lys166Asn) | dbSNP |
| 15 | g.90761185G>T | CA393843894 | BLM | c.1812G>T (p.Lys604Asn) c.*736G>T (n.*736G>T) c.687G>T (p.Lys229Asn) c.498G>T (p.Lys166Asn) | |
| 15 | g.90761186A>C | CA393843895 | BLM | c.1813A>C (p.Thr605Pro) c.*737A>C (n.*737A>C) c.688A>C (p.Thr230Pro) c.499A>C (p.Thr167Pro) | |
| 15 | g.90761186A>G | CA393843896 | BLM | c.1813A>G (p.Thr605Ala) c.*737A>G (n.*737A>G) c.688A>G (p.Thr230Ala) c.499A>G (p.Thr167Ala) | |
| 15 | g.90761186A>T | CA393843897 | BLM | c.1813A>T (p.Thr605Ser) c.*737A>T (n.*737A>T) c.688A>T (p.Thr230Ser) c.499A>T (p.Thr167Ser) | |
| 15 | g.90761187C>A | CA393843898 | BLM | c.1814C>A (p.Thr605Lys) c.*738C>A (n.*738C>A) c.689C>A (p.Thr230Lys) c.500C>A (p.Thr167Lys) | gnomAD v4 |
| 15 | g.90761187C>G | CA393843900 | BLM | c.1814C>G (p.Thr605Arg) c.*738C>G (n.*738C>G) c.689C>G (p.Thr230Arg) c.500C>G (p.Thr167Arg) | |
| 15 | g.90761187C>T | CA393843899 | BLM | c.1814C>T (p.Thr605Ile) c.*738C>T (n.*738C>T) c.689C>T (p.Thr230Ile) c.500C>T (p.Thr167Ile) | dbSNP |
| 15 | g.90761188A>C | CA492301858 | BLM | c.1815A>C (p.Thr605=) c.*739A>C (n.*739A>C) c.690A>C (p.Thr230=) c.501A>C (p.Thr167=) | |
| 15 | g.90761188A>G | CA492301859 | BLM | c.1815A>G (p.Thr605=) c.*739A>G (n.*739A>G) c.690A>G (p.Thr230=) c.501A>G (p.Thr167=) | |
| 15 | g.90761188A>T | CA492301860 | BLM | c.1815A>T (p.Thr605=) c.*739A>T (n.*739A>T) c.690A>T (p.Thr230=) c.501A>T (p.Thr167=) | |
| 15 | g.90761188_90761190del | CA2630379412 | BLM | c.1815_1817del (p.Asp606del) c.*739_*741del (n.*739_*741del) c.690_692del (p.Asp231del) c.501_503del (p.Asp168del) | gnomAD v4 |
| 15 | g.90761188_90761192del | CA912994835 | BLM | c.1815_1819del (p.Asp606SerfsTer21) c.*739_*743del (n.*739_*743del) c.690_694del (p.Asp231SerfsTer21) c.501_505del (p.Asp168SerfsTer21) | |
| 15 | g.90761188_90761192delinsAGACT | CA2195277307 | BLM | c.1815_1819delinsAGACT (p.Thr605=) c.*739_*743delinsAGACT (n.*739_*743delinsAGACT) c.690_694delinsAGACT (p.Thr230=) c.501_505delinsAGACT (p.Thr167=) | |
| 15 | g.90761189G>A | CA393843901 | BLM | c.1816G>A (p.Asp606Asn) c.*740G>A (n.*740G>A) c.691G>A (p.Asp231Asn) c.502G>A (p.Asp168Asn) | dbSNP |
| 15 | g.90761189G>C | CA393843902 | BLM | c.1816G>C (p.Asp606His) c.*740G>C (n.*740G>C) c.691G>C (p.Asp231His) c.502G>C (p.Asp168His) | |
| 15 | g.90761189G>T | CA393843903 | BLM | c.1816G>T (p.Asp606Tyr) c.*740G>T (n.*740G>T) c.691G>T (p.Asp231Tyr) c.502G>T (p.Asp168Tyr) | |
| 15 | g.90761190_90761193del | CA658824617 | BLM | c.1817_1820del (p.Asp606ValfsTer11) c.*741_*744del (n.*741_*744del) c.692_695del (p.Asp231ValfsTer11) c.503_506del (p.Asp168ValfsTer11) | ClinVar dbSNP |
| 15 | g.90761190A= | CA2195277310 | BLM | c.1817A= (p.Asp606=) c.*741A= (n.*741A=) c.692A= (p.Asp231=) c.503A= (p.Asp168=) | |
| 15 | g.90761190A>C | CA393843904 | BLM | c.1817A>C (p.Asp606Ala) c.*741A>C (n.*741A>C) c.692A>C (p.Asp231Ala) c.503A>C (p.Asp168Ala) | |
| 15 | g.90761190A>G | CA393843905 | BLM | c.1817A>G (p.Asp606Gly) c.*741A>G (n.*741A>G) c.692A>G (p.Asp231Gly) c.503A>G (p.Asp168Gly) | |
| 15 | g.90761190A>T | CA393843906 | BLM | c.1817A>T (p.Asp606Val) c.*741A>T (n.*741A>T) c.692A>T (p.Asp231Val) c.503A>T (p.Asp168Val) | ClinVar |
| 15 | g.90761190_90761191insGT | CA2195277312 | BLM | c.1817_1818insGT (p.Asp606GlufsTer13) c.*741_*742insGT (n.*741_*742insGT) c.692_693insGT (p.Asp231GlufsTer13) c.503_504insGT (p.Asp168GlufsTer13) | ClinVar dbSNP |
| 15 | g.90761191C>A | CA393843907 | BLM | c.1818C>A (p.Asp606Glu) c.*742C>A (n.*742C>A) c.693C>A (p.Asp231Glu) c.504C>A (p.Asp168Glu) | gnomAD v4 |
| 15 | g.90761191C= | CA2195277313 | BLM | c.1818C= (p.Asp606=) c.*742C= (n.*742C=) c.693C= (p.Asp231=) c.504C= (p.Asp168=) | |
| 15 | g.90761191C>G | CA393843908 | BLM | c.1818C>G (p.Asp606Glu) c.*742C>G (n.*742C>G) c.693C>G (p.Asp231Glu) c.504C>G (p.Asp168Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761191C>T | CA492301864 | BLM | c.1818C>T (p.Asp606=) c.*742C>T (n.*742C>T) c.693C>T (p.Asp231=) c.504C>T (p.Asp168=) | ClinVar dbSNP |
| 15 | g.90761193_90761196del | CA2580090402 | BLM | c.1820_1823del (p.Cys607PhefsTer10) c.*744_*747del (n.*744_*747del) c.695_698del (p.Cys232PhefsTer10) c.506_509del (p.Cys169PhefsTer10) | ClinVar |
| 15 | g.90761192T>A | CA393843909 | BLM | c.1819T>A (p.Cys607Ser) c.*743T>A (n.*743T>A) c.694T>A (p.Cys232Ser) c.505T>A (p.Cys169Ser) | |
| 15 | g.90761192T>C | CA393843910 | BLM | c.1819T>C (p.Cys607Arg) c.*743T>C (n.*743T>C) c.694T>C (p.Cys232Arg) c.505T>C (p.Cys169Arg) | ClinVar gnomAD v4 |
| 15 | g.90761192T>G | CA393843911 | BLM | c.1819T>G (p.Cys607Gly) c.*743T>G (n.*743T>G) c.694T>G (p.Cys232Gly) c.505T>G (p.Cys169Gly) | |
| 15 | g.90761193G>A | CA393843912 | BLM | c.1820G>A (p.Cys607Tyr) c.*744G>A (n.*744G>A) c.695G>A (p.Cys232Tyr) c.506G>A (p.Cys169Tyr) | dbSNP gnomAD v4 |
| 15 | g.90761193G>C | CA393843914 | BLM | c.1820G>C (p.Cys607Ser) c.*744G>C (n.*744G>C) c.695G>C (p.Cys232Ser) c.506G>C (p.Cys169Ser) | |
| 15 | g.90761193G>T | CA393843913 | BLM | c.1820G>T (p.Cys607Phe) c.*744G>T (n.*744G>T) c.695G>T (p.Cys232Phe) c.506G>T (p.Cys169Phe) | |
| 15 | g.90761193_90761194insCTTCCAGTGTCTGGAAGTAGATGACACT | CA2573151484 | BLM | c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608PhefsTer30) c.*744_*745insCTTCCAGTGTCTGGAAGTAGATGACACT (n.*744_*745insCTTCCAGTGTCTGGAAGTAGATGACACT) c.695_696insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu233PhefsTer30) c.506_507insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu170PhefsTer30) | ClinVar dbSNP |
| 15 | g.90761194T>A | CA393843915 | BLM | c.1821T>A (p.Cys607Ter) c.*745T>A (n.*745T>A) c.696T>A (p.Cys232Ter) c.507T>A (p.Cys169Ter) | |
| 15 | g.90761194T>C | CA492301868 | BLM | c.1821T>C (p.Cys607=) c.*745T>C (n.*745T>C) c.696T>C (p.Cys232=) c.507T>C (p.Cys169=) | |
| 15 | g.90761194T>G | CA393843916 | BLM | c.1821T>G (p.Cys607Trp) c.*745T>G (n.*745T>G) c.696T>G (p.Cys232Trp) c.507T>G (p.Cys169Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90761194T= | CA2195277315 | BLM | c.1821T= (p.Cys607=) c.*745T= (n.*745T=) c.696T= (p.Cys232=) c.507T= (p.Cys169=) | |
| 15 | g.90761195C>A | CA393843917 | BLM | c.1822C>A (p.Leu608Ile) c.*746C>A (n.*746C>A) c.697C>A (p.Leu233Ile) c.508C>A (p.Leu170Ile) | gnomAD v4 |
| 15 | g.90761195C>G | CA393843919 | BLM | c.1822C>G (p.Leu608Val) c.*746C>G (n.*746C>G) c.697C>G (p.Leu233Val) c.508C>G (p.Leu170Val) | |
| 15 | g.90761195C>T | CA393843918 | BLM | c.1822C>T (p.Leu608Phe) c.*746C>T (n.*746C>T) c.697C>T (p.Leu233Phe) c.508C>T (p.Leu170Phe) | |
| 15 | g.90761196T>A | CA393843920 | BLM | c.1823T>A (p.Leu608His) c.*747T>A (n.*747T>A) c.698T>A (p.Leu233His) c.509T>A (p.Leu170His) | |
| 15 | g.90761196T>C | CA393843922 | BLM | c.1823T>C (p.Leu608Pro) c.*747T>C (n.*747T>C) c.698T>C (p.Leu233Pro) c.509T>C (p.Leu170Pro) | |
| 15 | g.90761196T>G | CA393843921 | BLM | c.1823T>G (p.Leu608Arg) c.*747T>G (n.*747T>G) c.698T>G (p.Leu233Arg) c.509T>G (p.Leu170Arg) | |
| 15 | g.90761197T>A | CA492301870 | BLM | c.1824T>A (p.Leu608=) c.*748T>A (n.*748T>A) c.699T>A (p.Leu233=) c.510T>A (p.Leu170=) | |
| 15 | g.90761197T>C | CA492301872 | BLM | c.1824T>C (p.Leu608=) c.*748T>C (n.*748T>C) c.699T>C (p.Leu233=) c.510T>C (p.Leu170=) | gnomAD v4 |
| 15 | g.90761197T>G | CA492301873 | BLM | c.1824T>G (p.Leu608=) c.*748T>G (n.*748T>G) c.699T>G (p.Leu233=) c.510T>G (p.Leu170=) | |
| 15 | g.90761198C>A | CA7738589 | BLM | c.1825C>A (p.Pro609Thr) c.*749C>A (n.*749C>A) c.700C>A (p.Pro234Thr) c.511C>A (p.Pro171Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761198C= | CA2195277317 | BLM | c.1825C= (p.Pro609=) c.*749C= (n.*749C=) c.700C= (p.Pro234=) c.511C= (p.Pro171=) | |
| 15 | g.90761198C>G | CA393843923 | BLM | c.1825C>G (p.Pro609Ala) c.*749C>G (n.*749C>G) c.700C>G (p.Pro234Ala) c.511C>G (p.Pro171Ala) | |
| 15 | g.90761198C>T | CA393843924 | BLM | c.1825C>T (p.Pro609Ser) c.*749C>T (n.*749C>T) c.700C>T (p.Pro234Ser) c.511C>T (p.Pro171Ser) | ClinVar |
| 15 | g.90761199C>A | CA393843925 | BLM | c.1826C>A (p.Pro609Gln) c.*750C>A (n.*750C>A) c.701C>A (p.Pro234Gln) c.512C>A (p.Pro171Gln) | gnomAD v4 |
| 15 | g.90761199C= | CA2195277320 | BLM | c.1826C= (p.Pro609=) c.*750C= (n.*750C=) c.701C= (p.Pro234=) c.512C= (p.Pro171=) | |
| 15 | g.90761199C>G | CA393843926 | BLM | c.1826C>G (p.Pro609Arg) c.*750C>G (n.*750C>G) c.701C>G (p.Pro234Arg) c.512C>G (p.Pro171Arg) | |
| 15 | g.90761199C>T | CA393843927 | BLM | c.1826C>T (p.Pro609Leu) c.*750C>T (n.*750C>T) c.701C>T (p.Pro234Leu) c.512C>T (p.Pro171Leu) | ClinVar dbSNP |
| 15 | g.90761200A= | CA2195277322 | BLM | c.1827A= (p.Pro609=) c.*751A= (n.*751A=) c.702A= (p.Pro234=) c.513A= (p.Pro171=) | |
| 15 | g.90761200A>C | CA492301876 | BLM | c.1827A>C (p.Pro609=) c.*751A>C (n.*751A>C) c.702A>C (p.Pro234=) c.513A>C (p.Pro171=) | dbSNP |
| 15 | g.90761200A>G | CA492301878 | BLM | c.1827A>G (p.Pro609=) c.*751A>G (n.*751A>G) c.702A>G (p.Pro234=) c.513A>G (p.Pro171=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761200A>T | CA274738463 | BLM | c.1827A>T (p.Pro609=) c.*751A>T (n.*751A>T) c.702A>T (p.Pro234=) c.513A>T (p.Pro171=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761201G>A | CA393843928 | BLM | c.1828G>A (p.Val610Met) c.*752G>A (n.*752G>A) c.703G>A (p.Val235Met) c.514G>A (p.Val172Met) | ClinVar gnomAD v4 |
| 15 | g.90761201G>C | CA393843929 | BLM | c.1828G>C (p.Val610Leu) c.*752G>C (n.*752G>C) c.703G>C (p.Val235Leu) c.514G>C (p.Val172Leu) | |
| 15 | g.90761201G>T | CA393843930 | BLM | c.1828G>T (p.Val610Leu) c.*752G>T (n.*752G>T) c.703G>T (p.Val235Leu) c.514G>T (p.Val172Leu) | gnomAD v4 |
| 15 | g.90761202T>A | CA393843931 | BLM | c.1829T>A (p.Val610Glu) c.*753T>A (n.*753T>A) c.704T>A (p.Val235Glu) c.515T>A (p.Val172Glu) | |
| 15 | g.90761202T>C | CA393843932 | BLM | c.1829T>C (p.Val610Ala) c.*753T>C (n.*753T>C) c.704T>C (p.Val235Ala) c.515T>C (p.Val172Ala) | |
| 15 | g.90761202T>G | CA393843933 | BLM | c.1829T>G (p.Val610Gly) c.*753T>G (n.*753T>G) c.704T>G (p.Val235Gly) c.515T>G (p.Val172Gly) | |
| 15 | g.90761202dup | CA2695221151 | BLM | c.1829dup (p.Ser611ValfsTer18) c.*753dup (n.*753dup) c.704dup (p.Ser236ValfsTer18) c.515dup (p.Ser173ValfsTer18) | |
| 15 | g.90761203G>A | CA492301879 | BLM | c.1830G>A (p.Val610=) c.*754G>A (n.*754G>A) c.705G>A (p.Val235=) c.516G>A (p.Val172=) | |
| 15 | g.90761203G>C | CA492301880 | BLM | c.1830G>C (p.Val610=) c.*754G>C (n.*754G>C) c.705G>C (p.Val235=) c.516G>C (p.Val172=) | |
| 15 | g.90761203G>T | CA492301881 | BLM | c.1830G>T (p.Val610=) c.*754G>T (n.*754G>T) c.705G>T (p.Val235=) c.516G>T (p.Val172=) | |
| 15 | g.90761204T>A | CA393843936 | BLM | c.1831T>A (p.Ser611Thr) c.*755T>A (n.*755T>A) c.706T>A (p.Ser236Thr) c.517T>A (p.Ser173Thr) | |
| 15 | g.90761204T>C | CA393843934 | BLM | c.1831T>C (p.Ser611Pro) c.*755T>C (n.*755T>C) c.706T>C (p.Ser236Pro) c.517T>C (p.Ser173Pro) | gnomAD v4 |
| 15 | g.90761204T>G | CA393843935 | BLM | c.1831T>G (p.Ser611Ala) c.*755T>G (n.*755T>G) c.706T>G (p.Ser236Ala) c.517T>G (p.Ser173Ala) | |
| 15 | g.90761205C>A | CA393843937 | BLM | c.1832C>A (p.Ser611Ter) c.*756C>A (n.*756C>A) c.707C>A (p.Ser236Ter) c.518C>A (p.Ser173Ter) | ClinVar gnomAD v4 |
| 15 | g.90761205C= | CA2195277324 | BLM | c.1832C= (p.Ser611=) c.*756C= (n.*756C=) c.707C= (p.Ser236=) c.518C= (p.Ser173=) | |
| 15 | g.90761205C>G | CA393843938 | BLM | c.1832C>G (p.Ser611Ter) c.*756C>G (n.*756C>G) c.707C>G (p.Ser236Ter) c.518C>G (p.Ser173Ter) | ClinVar |
| 15 | g.90761205C>T | CA393843939 | BLM | c.1832C>T (p.Ser611Leu) c.*756C>T (n.*756C>T) c.707C>T (p.Ser236Leu) c.518C>T (p.Ser173Leu) | ClinVar dbSNP |
| 15 | g.90761206A= | CA2195277326 | BLM | c.1833A= (p.Ser611=) c.*757A= (n.*757A=) c.708A= (p.Ser236=) c.519A= (p.Ser173=) | |
| 15 | g.90761206A>C | CA492301884 | BLM | c.1833A>C (p.Ser611=) c.*757A>C (n.*757A>C) c.708A>C (p.Ser236=) c.519A>C (p.Ser173=) | |
| 15 | g.90761206A>G | CA7738590 | BLM | c.1833A>G (p.Ser611=) c.*757A>G (n.*757A>G) c.708A>G (p.Ser236=) c.519A>G (p.Ser173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761206A>T | CA492301885 | BLM | c.1833A>T (p.Ser611=) c.*757A>T (n.*757A>T) c.708A>T (p.Ser236=) c.519A>T (p.Ser173=) | |
| 15 | g.90761207T>A | CA393843940 | BLM | c.1834T>A (p.Ser612Thr) c.*758T>A (n.*758T>A) c.709T>A (p.Ser237Thr) c.520T>A (p.Ser174Thr) | |
| 15 | g.90761207T>C | CA393843941 | BLM | c.1834T>C (p.Ser612Pro) c.*758T>C (n.*758T>C) c.709T>C (p.Ser237Pro) c.520T>C (p.Ser174Pro) | |
| 15 | g.90761207T>G | CA393843942 | BLM | c.1834T>G (p.Ser612Ala) c.*758T>G (n.*758T>G) c.709T>G (p.Ser237Ala) c.520T>G (p.Ser174Ala) | |
| 15 | g.90761208C>A | CA393843943 | BLM | c.1835C>A (p.Ser612Tyr) c.*759C>A (n.*759C>A) c.710C>A (p.Ser237Tyr) c.521C>A (p.Ser174Tyr) | ClinVar gnomAD v4 |
| 15 | g.90761208C>G | CA393843944 | BLM | c.1835C>G (p.Ser612Cys) c.*759C>G (n.*759C>G) c.710C>G (p.Ser237Cys) c.521C>G (p.Ser174Cys) | dbSNP |
| 15 | g.90761208C>T | CA393843945 | BLM | c.1835C>T (p.Ser612Phe) c.*759C>T (n.*759C>T) c.710C>T (p.Ser237Phe) c.521C>T (p.Ser174Phe) | |
| 15 | g.90761209T>A | CA492301886 | BLM | c.1836T>A (p.Ser612=) c.*760T>A (n.*760T>A) c.711T>A (p.Ser237=) c.522T>A (p.Ser174=) | |
| 15 | g.90761209T>C | CA492301887 | BLM | c.1836T>C (p.Ser612=) c.*760T>C (n.*760T>C) c.711T>C (p.Ser237=) c.522T>C (p.Ser174=) | ClinVar gnomAD v4 |
| 15 | g.90761209T>G | CA492301888 | BLM | c.1836T>G (p.Ser612=) c.*760T>G (n.*760T>G) c.711T>G (p.Ser237=) c.522T>G (p.Ser174=) | |
| 15 | g.90761210A>C | CA393843948 | BLM | c.1837A>C (p.Thr613Pro) c.*761A>C (n.*761A>C) c.712A>C (p.Thr238Pro) c.523A>C (p.Thr175Pro) | ClinVar |
| 15 | g.90761210A>G | CA393843947 | BLM | c.1837A>G (p.Thr613Ala) c.*761A>G (n.*761A>G) c.712A>G (p.Thr238Ala) c.523A>G (p.Thr175Ala) | |
| 15 | g.90761210A>T | CA393843946 | BLM | c.1837A>T (p.Thr613Ser) c.*761A>T (n.*761A>T) c.712A>T (p.Thr238Ser) c.523A>T (p.Thr175Ser) | |
| 15 | g.90761211C>A | CA393843949 | BLM | c.1838C>A (p.Thr613Asn) c.*762C>A (n.*762C>A) c.713C>A (p.Thr238Asn) c.524C>A (p.Thr175Asn) | gnomAD v4 |
| 15 | g.90761211C= | CA2195277329 | BLM | c.1838C= (p.Thr613=) c.*762C= (n.*762C=) c.713C= (p.Thr238=) c.524C= (p.Thr175=) | |
| 15 | g.90761211C>G | CA393843950 | BLM | c.1838C>G (p.Thr613Ser) c.*762C>G (n.*762C>G) c.713C>G (p.Thr238Ser) c.524C>G (p.Thr175Ser) | |
| 15 | g.90761211C>T | CA7738591 | BLM | c.1838C>T (p.Thr613Ile) c.*762C>T (n.*762C>T) c.713C>T (p.Thr238Ile) c.524C>T (p.Thr175Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761212T>A | CA492301896 | BLM | c.1839T>A (p.Thr613=) c.*763T>A (n.*763T>A) c.714T>A (p.Thr238=) c.525T>A (p.Thr175=) | |
| 15 | g.90761212T>C | CA492301894 | BLM | c.1839T>C (p.Thr613=) c.*763T>C (n.*763T>C) c.714T>C (p.Thr238=) c.525T>C (p.Thr175=) | ClinVar dbSNP |
| 15 | g.90761212T>G | CA492301893 | BLM | c.1839T>G (p.Thr613=) c.*763T>G (n.*763T>G) c.714T>G (p.Thr238=) c.525T>G (p.Thr175=) | dbSNP |
| 15 | g.90761213G>A | CA393843951 | BLM | c.1840G>A (p.Ala614Thr) c.*764G>A (n.*764G>A) c.715G>A (p.Ala239Thr) c.526G>A (p.Ala176Thr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761213G>C | CA393843952 | BLM | c.1840G>C (p.Ala614Pro) c.*764G>C (n.*764G>C) c.715G>C (p.Ala239Pro) c.526G>C (p.Ala176Pro) | ClinVar |
| 15 | g.90761213G= | CA2195277330 | BLM | c.1840G= (p.Ala614=) c.*764G= (n.*764G=) c.715G= (p.Ala239=) c.526G= (p.Ala176=) | |
| 15 | g.90761213G>T | CA393843953 | BLM | c.1840G>T (p.Ala614Ser) c.*764G>T (n.*764G>T) c.715G>T (p.Ala239Ser) c.526G>T (p.Ala176Ser) | |
| 15 | g.90761214C>A | CA393843954 | BLM | c.1841C>A (p.Ala614Asp) c.*765C>A (n.*765C>A) c.716C>A (p.Ala239Asp) c.527C>A (p.Ala176Asp) | gnomAD v4 |
| 15 | g.90761214C= | CA2195277332 | BLM | c.1841C= (p.Ala614=) c.*765C= (n.*765C=) c.716C= (p.Ala239=) c.527C= (p.Ala176=) | |
| 15 | g.90761214C>G | CA393843955 | BLM | c.1841C>G (p.Ala614Gly) c.*765C>G (n.*765C>G) c.716C>G (p.Ala239Gly) c.527C>G (p.Ala176Gly) | dbSNP gnomAD v4 |
| 15 | g.90761214C>T | CA393843956 | BLM | c.1841C>T (p.Ala614Val) c.*765C>T (n.*765C>T) c.716C>T (p.Ala239Val) c.527C>T (p.Ala176Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761215T>A | CA492301899 | BLM | c.1842T>A (p.Ala614=) c.*766T>A (n.*766T>A) c.717T>A (p.Ala239=) c.528T>A (p.Ala176=) | |
| 15 | g.90761215T>C | CA492301900 | BLM | c.1842T>C (p.Ala614=) c.*766T>C (n.*766T>C) c.717T>C (p.Ala239=) c.528T>C (p.Ala176=) | gnomAD v4 |
| 15 | g.90761215T>G | CA492301901 | BLM | c.1842T>G (p.Ala614=) c.*766T>G (n.*766T>G) c.717T>G (p.Ala239=) c.528T>G (p.Ala176=) | |
| 15 | g.90761216C>A | CA393843957 | BLM | c.1843C>A (p.Gln615Lys) c.*767C>A (n.*767C>A) c.718C>A (p.Gln240Lys) c.529C>A (p.Gln177Lys) | gnomAD v4 |
| 15 | g.90761216C>G | CA393843958 | BLM | c.1843C>G (p.Gln615Glu) c.*767C>G (n.*767C>G) c.718C>G (p.Gln240Glu) c.529C>G (p.Gln177Glu) | |
| 15 | g.90761216C>T | CA393843959 | BLM | c.1843C>T (p.Gln615Ter) c.*767C>T (n.*767C>T) c.718C>T (p.Gln240Ter) c.529C>T (p.Gln177Ter) | |
| 15 | g.90761217A= | CA2195277334 | BLM | c.1844A= (p.Gln615=) c.*768A= (n.*768A=) c.719A= (p.Gln240=) c.530A= (p.Gln177=) | |
| 15 | g.90761217A>C | CA393843962 | BLM | c.1844A>C (p.Gln615Pro) c.*768A>C (n.*768A>C) c.719A>C (p.Gln240Pro) c.530A>C (p.Gln177Pro) | |
| 15 | g.90761217A>G | CA393843961 | BLM | c.1844A>G (p.Gln615Arg) c.*768A>G (n.*768A>G) c.719A>G (p.Gln240Arg) c.530A>G (p.Gln177Arg) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761217A>T | CA393843960 | BLM | c.1844A>T (p.Gln615Leu) c.*768A>T (n.*768A>T) c.719A>T (p.Gln240Leu) c.530A>T (p.Gln177Leu) | |
| 15 | g.90761219_90761220del | CA2630379459 | BLM | c.1846_1847del (p.Asn616TyrfsTer12) c.*770_*771del (n.*770_*771del) c.721_722del (p.Asn241TyrfsTer12) c.532_533del (p.Asn178TyrfsTer12) | gnomAD v4 |
| 15 | g.90761218A= | CA2195277336 | BLM | c.1845A= (p.Gln615=) c.*769A= (n.*769A=) c.720A= (p.Gln240=) c.531A= (p.Gln177=) | |
| 15 | g.90761218A>C | CA393843963 | BLM | c.1845A>C (p.Gln615His) c.*769A>C (n.*769A>C) c.720A>C (p.Gln240His) c.531A>C (p.Gln177His) | |
| 15 | g.90761218A>G | CA492301906 | BLM | c.1845A>G (p.Gln615=) c.*769A>G (n.*769A>G) c.720A>G (p.Gln240=) c.531A>G (p.Gln177=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761218A>T | CA393843964 | BLM | c.1845A>T (p.Gln615His) c.*769A>T (n.*769A>T) c.720A>T (p.Gln240His) c.531A>T (p.Gln177His) | |
| 15 | g.90761219A= | CA2195277338 | BLM | c.1846A= (p.Asn616=) c.*770A= (n.*770A=) c.721A= (p.Asn241=) c.532A= (p.Asn178=) | |
| 15 | g.90761219A>C | CA393843965 | BLM | c.1846A>C (p.Asn616His) c.*770A>C (n.*770A>C) c.721A>C (p.Asn241His) c.532A>C (p.Asn178His) | |
| 15 | g.90761219A>G | CA393843966 | BLM | c.1846A>G (p.Asn616Asp) c.*770A>G (n.*770A>G) c.721A>G (p.Asn241Asp) c.532A>G (p.Asn178Asp) | |
| 15 | g.90761219A>T | CA393843967 | BLM | c.1846A>T (p.Asn616Tyr) c.*770A>T (n.*770A>T) c.721A>T (p.Asn241Tyr) c.532A>T (p.Asn178Tyr) | ClinVar dbSNP |
| 15 | g.90761220A>C | CA393843968 | BLM | c.1847A>C (p.Asn616Thr) c.*771A>C (n.*771A>C) c.722A>C (p.Asn241Thr) c.533A>C (p.Asn178Thr) | |
| 15 | g.90761220A>G | CA393843969 | BLM | c.1847A>G (p.Asn616Ser) c.*771A>G (n.*771A>G) c.722A>G (p.Asn241Ser) c.533A>G (p.Asn178Ser) | |
| 15 | g.90761220A>T | CA393843970 | BLM | c.1847A>T (p.Asn616Ile) c.*771A>T (n.*771A>T) c.722A>T (p.Asn241Ile) c.533A>T (p.Asn178Ile) | |
| 15 | g.90761221T>A | CA393843971 | BLM | c.1848T>A (p.Asn616Lys) c.*772T>A (n.*772T>A) c.723T>A (p.Asn241Lys) c.534T>A (p.Asn178Lys) | gnomAD v4 |
| 15 | g.90761221T>C | CA492301909 | BLM | c.1848T>C (p.Asn616=) c.*772T>C (n.*772T>C) c.723T>C (p.Asn241=) c.534T>C (p.Asn178=) | gnomAD v4 |
| 15 | g.90761221T>G | CA393843972 | BLM | c.1848T>G (p.Asn616Lys) c.*772T>G (n.*772T>G) c.723T>G (p.Asn241Lys) c.534T>G (p.Asn178Lys) | |
| 15 | g.90761221_90761222insTATCAATATC | CA2695221152 | BLM | c.1848_1849insTATCAATATC (p.Ile617TyrfsTer15) c.*772_*773insTATCAATATC (n.*772_*773insTATCAATATC) c.723_724insTATCAATATC (p.Ile242TyrfsTer15) c.534_535insTATCAATATC (p.Ile179TyrfsTer15) | |
| 15 | g.90761222A= | CA2195277339 | BLM | c.1849A= (p.Ile617=) c.*773A= (n.*773A=) c.724A= (p.Ile242=) c.535A= (p.Ile179=) | |
| 15 | g.90761222A>C | CA393843973 | BLM | c.1849A>C (p.Ile617Leu) c.*773A>C (n.*773A>C) c.724A>C (p.Ile242Leu) c.535A>C (p.Ile179Leu) | |
| 15 | g.90761222A>G | CA393843974 | BLM | c.1849A>G (p.Ile617Val) c.*773A>G (n.*773A>G) c.724A>G (p.Ile242Val) c.535A>G (p.Ile179Val) | ClinVar |
| 15 | g.90761222A>T | CA393843975 | BLM | c.1849A>T (p.Ile617Leu) c.*773A>T (n.*773A>T) c.724A>T (p.Ile242Leu) c.535A>T (p.Ile179Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761223T>A | CA393843977 | BLM | c.1850T>A (p.Ile617Lys) c.*774T>A (n.*774T>A) c.725T>A (p.Ile242Lys) c.536T>A (p.Ile179Lys) | |
| 15 | g.90761223T>C | CA274738467 | BLM | c.1850T>C (p.Ile617Thr) c.*774T>C (n.*774T>C) c.725T>C (p.Ile242Thr) c.536T>C (p.Ile179Thr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761223T>G | CA393843976 | BLM | c.1850T>G (p.Ile617Arg) c.*774T>G (n.*774T>G) c.725T>G (p.Ile242Arg) c.536T>G (p.Ile179Arg) | |
| 15 | g.90761223T= | CA2195277341 | BLM | c.1850T= (p.Ile617=) c.*774T= (n.*774T=) c.725T= (p.Ile242=) c.536T= (p.Ile179=) | |
| 15 | g.90761224A>C | CA492301914 | BLM | c.1851A>C (p.Ile617=) c.*775A>C (n.*775A>C) c.726A>C (p.Ile242=) c.537A>C (p.Ile179=) | |
| 15 | g.90761224A>G | CA393843978 | BLM | c.1851A>G (p.Ile617Met) c.*775A>G (n.*775A>G) c.726A>G (p.Ile242Met) c.537A>G (p.Ile179Met) | gnomAD v4 |
| 15 | g.90761224A>T | CA492301915 | BLM | c.1851A>T (p.Ile617=) c.*775A>T (n.*775A>T) c.726A>T (p.Ile242=) c.537A>T (p.Ile179=) | |
| 15 | g.90761226del | CA2630379482 | BLM | c.1853del (p.Asn618ThrfsTer17) c.*777del (n.*777del) c.728del (p.Asn243ThrfsTer17) c.539del (p.Asn180ThrfsTer17) | gnomAD v4 |
| 15 | g.90761225A>C | CA393843979 | BLM | c.1852A>C (p.Asn618His) c.*776A>C (n.*776A>C) c.727A>C (p.Asn243His) c.538A>C (p.Asn180His) | ClinVar |
| 15 | g.90761225A>G | CA393843981 | BLM | c.1852A>G (p.Asn618Asp) c.*776A>G (n.*776A>G) c.727A>G (p.Asn243Asp) c.538A>G (p.Asn180Asp) | gnomAD v4 |
| 15 | g.90761225A>T | CA393843980 | BLM | c.1852A>T (p.Asn618Tyr) c.*776A>T (n.*776A>T) c.727A>T (p.Asn243Tyr) c.538A>T (p.Asn180Tyr) | |
| 15 | g.90761226A>C | CA393843982 | BLM | c.1853A>C (p.Asn618Thr) c.*777A>C (n.*777A>C) c.728A>C (p.Asn243Thr) c.539A>C (p.Asn180Thr) | |
| 15 | g.90761226A>G | CA393843983 | BLM | c.1853A>G (p.Asn618Ser) c.*777A>G (n.*777A>G) c.728A>G (p.Asn243Ser) c.539A>G (p.Asn180Ser) | |
| 15 | g.90761226A>T | CA393843984 | BLM | c.1853A>T (p.Asn618Ile) c.*777A>T (n.*777A>T) c.728A>T (p.Asn243Ile) c.539A>T (p.Asn180Ile) | |
| 15 | g.90761226_90761229delinsACTT | CA2195277344 | BLM | c.1853_1856delinsACTT (p.Asn618=) c.*777_*780delinsACTT (n.*777_*780delinsACTT) c.728_731delinsACTT (p.Asn243=) c.539_542delinsACTT (p.Asn180=) | |
| 15 | g.90761227C>A | CA7738592 | BLM | c.1854C>A (p.Asn618Lys) c.*778C>A (n.*778C>A) c.729C>A (p.Asn243Lys) c.540C>A (p.Asn180Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761227C= | CA2195277346 | BLM | c.1854C= (p.Asn618=) c.*778C= (n.*778C=) c.729C= (p.Asn243=) c.540C= (p.Asn180=) | |
| 15 | g.90761227C>G | CA393843985 | BLM | c.1854C>G (p.Asn618Lys) c.*778C>G (n.*778C>G) c.729C>G (p.Asn243Lys) c.540C>G (p.Asn180Lys) | dbSNP |
| 15 | g.90761227C>T | CA274738483 | BLM | c.1854C>T (p.Asn618=) c.*778C>T (n.*778C>T) c.729C>T (p.Asn243=) c.540C>T (p.Asn180=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761229_90761231del | CA658658318 | BLM | c.1856_1858del (p.Phe619del) c.*780_*782del (n.*780_*782del) c.731_733del (p.Phe244del) c.542_544del (p.Phe181del) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761228T>A | CA393843986 | BLM | c.1855T>A (p.Phe619Ile) c.*779T>A (n.*779T>A) c.730T>A (p.Phe244Ile) c.541T>A (p.Phe181Ile) | |
| 15 | g.90761228T>C | CA393843987 | BLM | c.1855T>C (p.Phe619Leu) c.*779T>C (n.*779T>C) c.730T>C (p.Phe244Leu) c.541T>C (p.Phe181Leu) | gnomAD v4 |
| 15 | g.90761228T>G | CA393843988 | BLM | c.1855T>G (p.Phe619Val) c.*779T>G (n.*779T>G) c.730T>G (p.Phe244Val) c.541T>G (p.Phe181Val) | |
| 15 | g.90761229T>A | CA393843989 | BLM | c.1856T>A (p.Phe619Tyr) c.*780T>A (n.*780T>A) c.731T>A (p.Phe244Tyr) c.542T>A (p.Phe181Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90761229T>C | CA393843990 | BLM | c.1856T>C (p.Phe619Ser) c.*780T>C (n.*780T>C) c.731T>C (p.Phe244Ser) c.542T>C (p.Phe181Ser) | |
| 15 | g.90761229T>G | CA393843991 | BLM | c.1856T>G (p.Phe619Cys) c.*780T>G (n.*780T>G) c.731T>G (p.Phe244Cys) c.542T>G (p.Phe181Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761229T= | CA2195277349 | BLM | c.1856T= (p.Phe619=) c.*780T= (n.*780T=) c.731T= (p.Phe244=) c.542T= (p.Phe181=) | |
| 15 | g.90761230C>A | CA393843993 | BLM | c.1857C>A (p.Phe619Leu) c.*781C>A (n.*781C>A) c.732C>A (p.Phe244Leu) c.543C>A (p.Phe181Leu) | gnomAD v4 |
| 15 | g.90761230C= | CA2195277351 | BLM | c.1857C= (p.Phe619=) c.*781C= (n.*781C=) c.732C= (p.Phe244=) c.543C= (p.Phe181=) | |
| 15 | g.90761230C>G | CA393843992 | BLM | c.1857C>G (p.Phe619Leu) c.*781C>G (n.*781C>G) c.732C>G (p.Phe244Leu) c.543C>G (p.Phe181Leu) | ClinVar dbSNP gnomAD v2 |
| 15 | g.90761230C>T | CA492301417 | BLM | c.1857C>T (p.Phe619=) c.*781C>T (n.*781C>T) c.732C>T (p.Phe244=) c.543C>T (p.Phe181=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761231T>A | CA393843994 | BLM | c.1858T>A (p.Ser620Thr) c.*782T>A (n.*782T>A) c.733T>A (p.Ser245Thr) c.544T>A (p.Ser182Thr) | |
| 15 | g.90761231T>C | CA393843995 | BLM | c.1858T>C (p.Ser620Pro) c.*782T>C (n.*782T>C) c.733T>C (p.Ser245Pro) c.544T>C (p.Ser182Pro) | gnomAD v4 |
| 15 | g.90761231T>G | CA393843996 | BLM | c.1858T>G (p.Ser620Ala) c.*782T>G (n.*782T>G) c.733T>G (p.Ser245Ala) c.544T>G (p.Ser182Ala) | |
| 15 | g.90761232C>A | CA393843997 | BLM | c.1859C>A (p.Ser620Ter) c.*783C>A (n.*783C>A) c.734C>A (p.Ser245Ter) c.545C>A (p.Ser182Ter) | gnomAD v4 |
| 15 | g.90761232C>G | CA393843998 | BLM | c.1859C>G (p.Ser620Ter) c.*783C>G (n.*783C>G) c.734C>G (p.Ser245Ter) c.545C>G (p.Ser182Ter) | |
| 15 | g.90761232C>T | CA393843999 | BLM | c.1859C>T (p.Ser620Leu) c.*783C>T (n.*783C>T) c.734C>T (p.Ser245Leu) c.545C>T (p.Ser182Leu) | gnomAD v4 |
| 15 | g.90761233A= | CA2195277352 | BLM | c.1860A= (p.Ser620=) c.*784A= (n.*784A=) c.735A= (p.Ser245=) c.546A= (p.Ser182=) | |
| 15 | g.90761233A>C | CA492301464 | BLM | c.1860A>C (p.Ser620=) c.*784A>C (n.*784A>C) c.735A>C (p.Ser245=) c.546A>C (p.Ser182=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761233A>G | CA492301466 | BLM | c.1860A>G (p.Ser620=) c.*784A>G (n.*784A>G) c.735A>G (p.Ser245=) c.546A>G (p.Ser182=) | gnomAD v4 |
| 15 | g.90761233A>T | CA492301469 | BLM | c.1860A>T (p.Ser620=) c.*784A>T (n.*784A>T) c.735A>T (p.Ser245=) c.546A>T (p.Ser182=) | gnomAD v4 |
| 15 | g.90761234G>A | CA393844000 | BLM | c.1861G>A (p.Glu621Lys) c.*785G>A (n.*785G>A) c.736G>A (p.Glu246Lys) c.547G>A (p.Glu183Lys) | |
| 15 | g.90761234G>C | CA393844001 | BLM | c.1861G>C (p.Glu621Gln) c.*785G>C (n.*785G>C) c.736G>C (p.Glu246Gln) c.547G>C (p.Glu183Gln) | gnomAD v4 |
| 15 | g.90761234G>T | CA393844002 | BLM | c.1861G>T (p.Glu621Ter) c.*785G>T (n.*785G>T) c.736G>T (p.Glu246Ter) c.547G>T (p.Glu183Ter) | |
| 15 | g.90761235A>C | CA393844003 | BLM | c.1862A>C (p.Glu621Ala) c.*786A>C (n.*786A>C) c.737A>C (p.Glu246Ala) c.548A>C (p.Glu183Ala) | |
| 15 | g.90761235A>G | CA393844004 | BLM | c.1862A>G (p.Glu621Gly) c.*786A>G (n.*786A>G) c.737A>G (p.Glu246Gly) c.548A>G (p.Glu183Gly) | gnomAD v4 |
| 15 | g.90761235A>T | CA393844005 | BLM | c.1862A>T (p.Glu621Val) c.*786A>T (n.*786A>T) c.737A>T (p.Glu246Val) c.548A>T (p.Glu183Val) | ClinVar |
| 15 | g.90761236G>A | CA274738484 | BLM | c.1863G>A (p.Glu621=) c.*787G>A (n.*787G>A) c.738G>A (p.Glu246=) c.549G>A (p.Glu183=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761236G>C | CA393844007 | BLM | c.1863G>C (p.Glu621Asp) c.*787G>C (n.*787G>C) c.738G>C (p.Glu246Asp) c.549G>C (p.Glu183Asp) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761236G= | CA2195277355 | BLM | c.1863G= (p.Glu621=) c.*787G= (n.*787G=) c.738G= (p.Glu246=) c.549G= (p.Glu183=) | |
| 15 | g.90761236G>T | CA393844006 | BLM | c.1863G>T (p.Glu621Asp) c.*787G>T (n.*787G>T) c.738G>T (p.Glu246Asp) c.549G>T (p.Glu183Asp) | gnomAD v4 |
| 15 | g.90761237T>A | CA393844008 | BLM | c.1864T>A (p.Ser622Thr) c.*788T>A (n.*788T>A) c.739T>A (p.Ser247Thr) c.550T>A (p.Ser184Thr) | |
| 15 | g.90761237T>C | CA274738485 | BLM | c.1864T>C (p.Ser622Pro) c.*788T>C (n.*788T>C) c.739T>C (p.Ser247Pro) c.550T>C (p.Ser184Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761237T>G | CA393844009 | BLM | c.1864T>G (p.Ser622Ala) c.*788T>G (n.*788T>G) c.739T>G (p.Ser247Ala) c.550T>G (p.Ser184Ala) | ClinVar |
| 15 | g.90761237T= | CA2195277357 | BLM | c.1864T= (p.Ser622=) c.*788T= (n.*788T=) c.739T= (p.Ser247=) c.550T= (p.Ser184=) | |
| 15 | g.90761237_90761238del | CA2573151485 | BLM | c.1864_1865del (p.Ser622AsnfsTer6) c.*788_*789del (n.*788_*789del) c.739_740del (p.Ser247AsnfsTer6) c.550_551del (p.Ser184AsnfsTer6) | ClinVar dbSNP |
| 15 | g.90761238C>A | CA393844010 | BLM | c.1865C>A (p.Ser622Ter) c.*789C>A (n.*789C>A) c.740C>A (p.Ser247Ter) c.551C>A (p.Ser184Ter) | gnomAD v4 |
| 15 | g.90761238C>G | CA393844011 | BLM | c.1865C>G (p.Ser622Ter) c.*789C>G (n.*789C>G) c.740C>G (p.Ser247Ter) c.551C>G (p.Ser184Ter) | ClinVar gnomAD v4 |
| 15 | g.90761238C>T | CA393844012 | BLM | c.1865C>T (p.Ser622Leu) c.*789C>T (n.*789C>T) c.740C>T (p.Ser247Leu) c.551C>T (p.Ser184Leu) | ClinVar |
| 15 | g.90761239A>C | CA492301486 | BLM | c.1866A>C (p.Ser622=) c.*790A>C (n.*790A>C) c.741A>C (p.Ser247=) c.552A>C (p.Ser184=) | gnomAD v4 |
| 15 | g.90761239A>G | CA492301488 | BLM | c.1866A>G (p.Ser622=) c.*790A>G (n.*790A>G) c.741A>G (p.Ser247=) c.552A>G (p.Ser184=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761239A>T | CA492301487 | BLM | c.1866A>T (p.Ser622=) c.*790A>T (n.*790A>T) c.741A>T (p.Ser247=) c.552A>T (p.Ser184=) | |
| 15 | g.90761240A= | CA2195277359 | BLM | c.1867A= (p.Ile623=) c.*791A= (n.*791A=) c.742A= (p.Ile248=) c.553A= (p.Ile185=) | |
| 15 | g.90761240A>C | CA393844013 | BLM | c.1867A>C (p.Ile623Leu) c.*791A>C (n.*791A>C) c.742A>C (p.Ile248Leu) c.553A>C (p.Ile185Leu) | |
| 15 | g.90761240A>G | CA274738487 | BLM | c.1867A>G (p.Ile623Val) c.*791A>G (n.*791A>G) c.742A>G (p.Ile248Val) c.553A>G (p.Ile185Val) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761240A>T | CA393844014 | BLM | c.1867A>T (p.Ile623Phe) c.*791A>T (n.*791A>T) c.742A>T (p.Ile248Phe) c.553A>T (p.Ile185Phe) | |
| 15 | g.90761241T>A | CA393844015 | BLM | c.1868T>A (p.Ile623Asn) c.*792T>A (n.*792T>A) c.743T>A (p.Ile248Asn) c.554T>A (p.Ile185Asn) | |
| 15 | g.90761241T>C | CA393844016 | BLM | c.1868T>C (p.Ile623Thr) c.*792T>C (n.*792T>C) c.743T>C (p.Ile248Thr) c.554T>C (p.Ile185Thr) | ClinVar dbSNP |
| 15 | g.90761241T>G | CA393844017 | BLM | c.1868T>G (p.Ile623Ser) c.*792T>G (n.*792T>G) c.743T>G (p.Ile248Ser) c.554T>G (p.Ile185Ser) | |
| 15 | g.90761241T= | CA2195277361 | BLM | c.1868T= (p.Ile623=) c.*792T= (n.*792T=) c.743T= (p.Ile248=) c.554T= (p.Ile185=) | |
| 15 | g.90761242T>A | CA492301498 | BLM | c.1869T>A (p.Ile623=) c.*793T>A (n.*793T>A) c.744T>A (p.Ile248=) c.555T>A (p.Ile185=) | gnomAD v4 |
| 15 | g.90761242T>C | CA492301503 | BLM | c.1869T>C (p.Ile623=) c.*793T>C (n.*793T>C) c.744T>C (p.Ile248=) c.555T>C (p.Ile185=) | gnomAD v4 |
| 15 | g.90761242T>G | CA393844018 | BLM | c.1869T>G (p.Ile623Met) c.*793T>G (n.*793T>G) c.744T>G (p.Ile248Met) c.555T>G (p.Ile185Met) | |
| 15 | g.90761243C>A | CA393844020 | BLM | c.1870C>A (p.Gln624Lys) c.*794C>A (n.*794C>A) c.745C>A (p.Gln249Lys) c.556C>A (p.Gln186Lys) | gnomAD v4 |
| 15 | g.90761243C= | CA2195277364 | BLM | c.1870C= (p.Gln624=) c.*794C= (n.*794C=) c.745C= (p.Gln249=) c.556C= (p.Gln186=) | |
| 15 | g.90761243C>G | CA393844019 | BLM | c.1870C>G (p.Gln624Glu) c.*794C>G (n.*794C>G) c.745C>G (p.Gln249Glu) c.556C>G (p.Gln186Glu) | |
| 15 | g.90761243C>T | CA7738593 | BLM | c.1870C>T (p.Gln624Ter) c.*794C>T (n.*794C>T) c.745C>T (p.Gln249Ter) c.556C>T (p.Gln186Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90761244A>C | CA393844021 | BLM | c.1871A>C (p.Gln624Pro) c.*795A>C (n.*795A>C) c.746A>C (p.Gln249Pro) c.557A>C (p.Gln186Pro) | |
| 15 | g.90761244A>G | CA393844022 | BLM | c.1871A>G (p.Gln624Arg) c.*795A>G (n.*795A>G) c.746A>G (p.Gln249Arg) c.557A>G (p.Gln186Arg) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761244A>T | CA393844023 | BLM | c.1871A>T (p.Gln624Leu) c.*795A>T (n.*795A>T) c.746A>T (p.Gln249Leu) c.557A>T (p.Gln186Leu) | |
| 15 | g.90761245G>A | CA492301527 | BLM | c.1872G>A (p.Gln624=) c.*796G>A (n.*796G>A) c.747G>A (p.Gln249=) c.558G>A (p.Gln186=) | ClinVar |
| 15 | g.90761245G>C | CA393844024 | BLM | c.1872G>C (p.Gln624His) c.*796G>C (n.*796G>C) c.747G>C (p.Gln249His) c.558G>C (p.Gln186His) | |
| 15 | g.90761245G>T | CA393844025 | BLM | c.1872G>T (p.Gln624His) c.*796G>T (n.*796G>T) c.747G>T (p.Gln249His) c.558G>T (p.Gln186His) | gnomAD v4 |
| 15 | g.90761246A= | CA2195277366 | BLM | c.1873A= (p.Asn625=) c.*797A= (n.*797A=) c.748A= (p.Asn250=) c.559A= (p.Asn187=) | |
| 15 | g.90761246A>C | CA393844026 | BLM | c.1873A>C (p.Asn625His) c.*797A>C (n.*797A>C) c.748A>C (p.Asn250His) c.559A>C (p.Asn187His) | |
| 15 | g.90761246A>G | CA393844027 | BLM | c.1873A>G (p.Asn625Asp) c.*797A>G (n.*797A>G) c.748A>G (p.Asn250Asp) c.559A>G (p.Asn187Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761246A>T | CA393844028 | BLM | c.1873A>T (p.Asn625Tyr) c.*797A>T (n.*797A>T) c.748A>T (p.Asn250Tyr) c.559A>T (p.Asn187Tyr) | |
| 15 | g.90761247A>C | CA393844029 | BLM | c.1874A>C (p.Asn625Thr) c.*798A>C (n.*798A>C) c.749A>C (p.Asn250Thr) c.560A>C (p.Asn187Thr) | |
| 15 | g.90761247A>G | CA393844030 | BLM | c.1874A>G (p.Asn625Ser) c.*798A>G (n.*798A>G) c.749A>G (p.Asn250Ser) c.560A>G (p.Asn187Ser) | gnomAD v4 |
| 15 | g.90761247A>T | CA393844031 | BLM | c.1874A>T (p.Asn625Ile) c.*798A>T (n.*798A>T) c.749A>T (p.Asn250Ile) c.560A>T (p.Asn187Ile) | |
| 15 | g.90761248T>A | CA393844032 | BLM | c.1875T>A (p.Asn625Lys) c.*799T>A (n.*799T>A) c.750T>A (p.Asn250Lys) c.561T>A (p.Asn187Lys) | |
| 15 | g.90761248T>C | CA492301540 | BLM | c.1875T>C (p.Asn625=) c.*799T>C (n.*799T>C) c.750T>C (p.Asn250=) c.561T>C (p.Asn187=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761248T>G | CA393844033 | BLM | c.1875T>G (p.Asn625Lys) c.*799T>G (n.*799T>G) c.750T>G (p.Asn250Lys) c.561T>G (p.Asn187Lys) | |
| 15 | g.90761249del | CA2630379553 | BLM | c.1876del (p.Tyr626IlefsTer9) c.*800del (n.*800del) c.751del (p.Tyr251IlefsTer9) c.562del (p.Tyr188IlefsTer9) | gnomAD v4 |
| 15 | g.90761249T>A | CA393844035 | BLM | c.1876T>A (p.Tyr626Asn) c.*800T>A (n.*800T>A) c.751T>A (p.Tyr251Asn) c.562T>A (p.Tyr188Asn) | gnomAD v4 |
| 15 | g.90761249T>C | CA393844036 | BLM | c.1876T>C (p.Tyr626His) c.*800T>C (n.*800T>C) c.751T>C (p.Tyr251His) c.562T>C (p.Tyr188His) | gnomAD v4 |
| 15 | g.90761249T>G | CA393844034 | BLM | c.1876T>G (p.Tyr626Asp) c.*800T>G (n.*800T>G) c.751T>G (p.Tyr251Asp) c.562T>G (p.Tyr188Asp) | |
| 15 | g.90761250del | CA2630379560 | BLM | c.1877del (p.Tyr626LeufsTer9) c.*801del (n.*801del) c.752del (p.Tyr251LeufsTer9) c.563del (p.Tyr188LeufsTer9) | gnomAD v4 |
| 15 | g.90761250A= | CA2195277368 | BLM | c.1877A= (p.Tyr626=) c.*801A= (n.*801A=) c.752A= (p.Tyr251=) c.563A= (p.Tyr188=) | |
| 15 | g.90761250A>C | CA393844037 | BLM | c.1877A>C (p.Tyr626Ser) c.*801A>C (n.*801A>C) c.752A>C (p.Tyr251Ser) c.563A>C (p.Tyr188Ser) | |
| 15 | g.90761250A>G | CA393844038 | BLM | c.1877A>G (p.Tyr626Cys) c.*801A>G (n.*801A>G) c.752A>G (p.Tyr251Cys) c.563A>G (p.Tyr188Cys) | gnomAD v4 |
| 15 | g.90761250A>T | CA157445 | BLM | c.1877A>T (p.Tyr626Phe) c.*801A>T (n.*801A>T) c.752A>T (p.Tyr251Phe) c.563A>T (p.Tyr188Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761251T>A | CA393844039 | BLM | c.1878T>A (p.Tyr626Ter) c.*802T>A (n.*802T>A) c.753T>A (p.Tyr251Ter) c.564T>A (p.Tyr188Ter) | gnomAD v4 |
| 15 | g.90761251T>C | CA492301544 | BLM | c.1878T>C (p.Tyr626=) c.*802T>C (n.*802T>C) c.753T>C (p.Tyr251=) c.564T>C (p.Tyr188=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761251T>G | CA393844040 | BLM | c.1878T>G (p.Tyr626Ter) c.*802T>G (n.*802T>G) c.753T>G (p.Tyr251Ter) c.564T>G (p.Tyr188Ter) | dbSNP |
| 15 | g.90761251T= | CA2195277370 | BLM | c.1878T= (p.Tyr626=) c.*802T= (n.*802T=) c.753T= (p.Tyr251=) c.564T= (p.Tyr188=) | |
| 15 | g.90761252A= | CA2195277372 | BLM | c.1879A= (p.Thr627=) c.*803A= (n.*803A=) c.754A= (p.Thr252=) c.565A= (p.Thr189=) | |
| 15 | g.90761252A>C | CA393844041 | BLM | c.1879A>C (p.Thr627Pro) c.*803A>C (n.*803A>C) c.754A>C (p.Thr252Pro) c.565A>C (p.Thr189Pro) | |
| 15 | g.90761252A>G | CA393844042 | BLM | c.1879A>G (p.Thr627Ala) c.*803A>G (n.*803A>G) c.754A>G (p.Thr252Ala) c.565A>G (p.Thr189Ala) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761252A>T | CA393844043 | BLM | c.1879A>T (p.Thr627Ser) c.*803A>T (n.*803A>T) c.754A>T (p.Thr252Ser) c.565A>T (p.Thr189Ser) | |
| 15 | g.90761253C>A | CA393844044 | BLM | c.1880C>A (p.Thr627Asn) c.*804C>A (n.*804C>A) c.755C>A (p.Thr252Asn) c.566C>A (p.Thr189Asn) | gnomAD v4 |
| 15 | g.90761253C>G | CA393844045 | BLM | c.1880C>G (p.Thr627Ser) c.*804C>G (n.*804C>G) c.755C>G (p.Thr252Ser) c.566C>G (p.Thr189Ser) | |
| 15 | g.90761253C>T | CA393844046 | BLM | c.1880C>T (p.Thr627Ile) c.*804C>T (n.*804C>T) c.755C>T (p.Thr252Ile) c.566C>T (p.Thr189Ile) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761254T>A | CA492301553 | BLM | c.1881T>A (p.Thr627=) c.*805T>A (n.*805T>A) c.756T>A (p.Thr252=) c.567T>A (p.Thr189=) | |
| 15 | g.90761254T>C | CA7738594 | BLM | c.1881T>C (p.Thr627=) c.*805T>C (n.*805T>C) c.756T>C (p.Thr252=) c.567T>C (p.Thr189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761254T>G | CA492301557 | BLM | c.1881T>G (p.Thr627=) c.*805T>G (n.*805T>G) c.756T>G (p.Thr252=) c.567T>G (p.Thr189=) | |
| 15 | g.90761254T= | CA2195277374 | BLM | c.1881T= (p.Thr627=) c.*805T= (n.*805T=) c.756T= (p.Thr252=) c.567T= (p.Thr189=) | |
| 15 | g.90761255G>A | CA393844047 | BLM | c.1882G>A (p.Asp628Asn) c.*806G>A (n.*806G>A) c.757G>A (p.Asp253Asn) c.568G>A (p.Asp190Asn) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761255G>C | CA393844048 | BLM | c.1882G>C (p.Asp628His) c.*806G>C (n.*806G>C) c.757G>C (p.Asp253His) c.568G>C (p.Asp190His) | |
| 15 | g.90761255G>T | CA393844049 | BLM | c.1882G>T (p.Asp628Tyr) c.*806G>T (n.*806G>T) c.757G>T (p.Asp253Tyr) c.568G>T (p.Asp190Tyr) | gnomAD v4 |
| 15 | g.90761256del | CA2630379589 | BLM | c.1882+1del c.*806+1del c.757+1del c.568+1del | gnomAD v4 |
| 15 | g.90761256G>A | CA393844050 | BLM | c.1882+1G>A (n.1882+1G>A) c.*806+1G>A (n.*806+1G>A) c.757+1G>A (n.757+1G>A) c.568+1G>A (n.568+1G>A) | gnomAD v4 |
| 15 | g.90761256G>C | CA393844051 | BLM | c.1882+1G>C (n.1882+1G>C) c.*806+1G>C (n.*806+1G>C) c.757+1G>C (n.757+1G>C) c.568+1G>C (n.568+1G>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90761256G= | CA2195277376 | BLM | c.1882+1G= (n.1882+1G=) c.*806+1G= (n.*806+1G=) c.757+1G= (n.757+1G=) c.568+1G= (n.568+1G=) | |
| 15 | g.90761256G>T | CA274738498 | BLM | c.1882+1G>T (n.1882+1G>T) c.*806+1G>T (n.*806+1G>T) c.757+1G>T (n.757+1G>T) c.568+1G>T (n.568+1G>T) | dbSNP gnomAD v4 COSMIC |
| 15 | g.90761257T>A | CA393844052 | BLM | c.1882+2T>A (n.1882+2T>A) c.*806+2T>A (n.*806+2T>A) c.757+2T>A (n.757+2T>A) c.568+2T>A (n.568+2T>A) | |
| 15 | g.90761257T>C | CA393844054 | BLM | c.1882+2T>C (n.1882+2T>C) c.*806+2T>C (n.*806+2T>C) c.757+2T>C (n.757+2T>C) c.568+2T>C (n.568+2T>C) | ClinVar gnomAD v4 |
| 15 | g.90761257T>G | CA393844053 | BLM | c.1882+2T>G (n.1882+2T>G) c.*806+2T>G (n.*806+2T>G) c.757+2T>G (n.757+2T>G) c.568+2T>G (n.568+2T>G) | |
| 15 | g.90761258A>G | CA2630379590 | BLM | c.1882+3A>G (n.1882+3A>G) c.*806+3A>G (n.*806+3A>G) c.757+3A>G (n.757+3A>G) c.568+3A>G (n.568+3A>G) | gnomAD v4 |
| 15 | g.90761259A>G | CA2630379591 | BLM | c.1882+4A>G (n.1882+4A>G) c.*806+4A>G (n.*806+4A>G) c.757+4A>G (n.757+4A>G) c.568+4A>G (n.568+4A>G) | gnomAD v4 |
| 15 | g.90761260G>A | CA2630379592 | BLM | c.1882+5G>A (n.1882+5G>A) c.*806+5G>A (n.*806+5G>A) c.757+5G>A (n.757+5G>A) c.568+5G>A (n.568+5G>A) | gnomAD v4 |
| 15 | g.90761261T>A | CA2630379593 | BLM | c.1882+6T>A (n.1882+6T>A) c.*806+6T>A (n.*806+6T>A) c.757+6T>A (n.757+6T>A) c.568+6T>A (n.568+6T>A) | gnomAD v4 |
| 15 | g.90761261T>C | CA2630379594 | BLM | c.1882+6T>C (n.1882+6T>C) c.*806+6T>C (n.*806+6T>C) c.757+6T>C (n.757+6T>C) c.568+6T>C (n.568+6T>C) | gnomAD v4 |
| 15 | g.90761262T>A | CA2630379595 | BLM | c.1882+7T>A (n.1882+7T>A) c.*806+7T>A (n.*806+7T>A) c.757+7T>A (n.757+7T>A) c.568+7T>A (n.568+7T>A) | gnomAD v4 |
| 15 | g.90761262T>C | CA2630379596 | BLM | c.1882+7T>C (n.1882+7T>C) c.*806+7T>C (n.*806+7T>C) c.757+7T>C (n.757+7T>C) c.568+7T>C (n.568+7T>C) | gnomAD v4 |
| 15 | g.90761263T>A | CA2630379597 | BLM | c.1882+8T>A (n.1882+8T>A) c.*806+8T>A (n.*806+8T>A) c.757+8T>A (n.757+8T>A) c.568+8T>A (n.568+8T>A) | gnomAD v4 |
| 15 | g.90761263T>C | CA2630379598 | BLM | c.1882+8T>C (n.1882+8T>C) c.*806+8T>C (n.*806+8T>C) c.757+8T>C (n.757+8T>C) c.568+8T>C (n.568+8T>C) | gnomAD v4 |
| 15 | g.90761264A>G | CA2630379599 | BLM | c.1882+9A>G (n.1882+9A>G) c.*806+9A>G (n.*806+9A>G) c.757+9A>G (n.757+9A>G) c.568+9A>G (n.568+9A>G) | gnomAD v4 |
| 15 | g.90761264A>T | CA2630379600 | BLM | c.1882+9A>T (n.1882+9A>T) c.*806+9A>T (n.*806+9A>T) c.757+9A>T (n.757+9A>T) c.568+9A>T (n.568+9A>T) | gnomAD v4 |
| 15 | g.90761265A>G | CA2630379601 | BLM | c.1882+10A>G (n.1882+10A>G) c.*806+10A>G (n.*806+10A>G) c.757+10A>G (n.757+10A>G) c.568+10A>G (n.568+10A>G) | gnomAD v4 |
| 15 | g.90761266A= | CA2195277378 | BLM | c.1882+11A= (n.1882+11A=) c.*806+11A= (n.*806+11A=) c.757+11A= (n.757+11A=) c.568+11A= (n.568+11A=) | |
| 15 | g.90761266A>G | CA619860695 | BLM | c.1882+11A>G (n.1882+11A>G) c.*806+11A>G (n.*806+11A>G) c.757+11A>G (n.757+11A>G) c.568+11A>G (n.568+11A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90761267A>G | CA2630379602 | BLM | c.1882+12A>G (n.1882+12A>G) c.*806+12A>G (n.*806+12A>G) c.757+12A>G (n.757+12A>G) c.568+12A>G (n.568+12A>G) | gnomAD v4 |
| 15 | g.90761267A>T | CA2630379603 | BLM | c.1882+12A>T (n.1882+12A>T) c.*806+12A>T (n.*806+12A>T) c.757+12A>T (n.757+12A>T) c.568+12A>T (n.568+12A>T) | gnomAD v4 |
| 15 | g.90761268T>C | CA2630379604 | BLM | c.1882+13T>C (n.1882+13T>C) c.*806+13T>C (n.*806+13T>C) c.757+13T>C (n.757+13T>C) c.568+13T>C (n.568+13T>C) | gnomAD v4 |
| 15 | g.90761270A= | CA2195277379 | BLM | c.1882+15A= (n.1882+15A=) c.*806+15A= (n.*806+15A=) c.757+15A= (n.757+15A=) c.568+15A= (n.568+15A=) | |
| 15 | g.90761270A>C | CA717018210 | BLM | c.1882+15A>C (n.1882+15A>C) c.*806+15A>C (n.*806+15A>C) c.757+15A>C (n.757+15A>C) c.568+15A>C (n.568+15A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90761270A>G | CA2697549377 | BLM | c.1882+15A>G (n.1882+15A>G) c.*806+15A>G (n.*806+15A>G) c.757+15A>G (n.757+15A>G) c.568+15A>G (n.568+15A>G) | ClinVar |
| 15 | g.90761271A>G | CA2630379605 | BLM | c.1882+16A>G (n.1882+16A>G) c.*806+16A>G (n.*806+16A>G) c.757+16A>G (n.757+16A>G) c.568+16A>G (n.568+16A>G) | gnomAD v4 |