Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.43877589C>A | CA346670804 | ABCG8 | c.1785C>A (p.Phe595Leu) c.1782C>A (p.Phe594Leu) c.1797C>A (p.Phe599Leu) c.1794C>A (p.Phe598Leu) c.1569C>A (p.Phe523Leu) n.2287C>A n.2301C>A | |
2 | g.43877589C= | CA2493965016 | ABCG8 | c.1785C= (p.Phe595=) c.1782C= (p.Phe594=) c.1797C= (p.Phe599=) c.1794C= (p.Phe598=) c.1569C= (p.Phe523=) n.2287C= n.2301C= | |
2 | g.43877589C>G | CA346670805 | ABCG8 | c.1785C>G (p.Phe595Leu) c.1782C>G (p.Phe594Leu) c.1797C>G (p.Phe599Leu) c.1794C>G (p.Phe598Leu) c.1569C>G (p.Phe523Leu) n.2287C>G n.2301C>G | |
2 | g.43877589C>T | CA1637665 | ABCG8 | c.1785C>T (p.Phe595=) c.1782C>T (p.Phe594=) c.1797C>T (p.Phe599=) c.1794C>T (p.Phe598=) c.1569C>T (p.Phe523=) n.2287C>T n.2301C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877590C>A | CA346670806 | ABCG8 | c.1786C>A (p.Leu596Met) c.1783C>A (p.Leu595Met) c.1798C>A (p.Leu600Met) c.1795C>A (p.Leu599Met) c.1570C>A (p.Leu524Met) n.2288C>A n.2302C>A | |
2 | g.43877590C>G | CA346670807 | ABCG8 | c.1786C>G (p.Leu596Val) c.1783C>G (p.Leu595Val) c.1798C>G (p.Leu600Val) c.1795C>G (p.Leu599Val) c.1570C>G (p.Leu524Val) n.2288C>G n.2302C>G | |
2 | g.43877590C>T | CA425908168 | ABCG8 | c.1786C>T (p.Leu596=) c.1783C>T (p.Leu595=) c.1798C>T (p.Leu600=) c.1795C>T (p.Leu599=) c.1570C>T (p.Leu524=) n.2288C>T n.2302C>T | gnomAD v4 COSMIC |
2 | g.43877591T>A | CA346670808 | ABCG8 | c.1787T>A (p.Leu596Gln) c.1784T>A (p.Leu595Gln) c.1799T>A (p.Leu600Gln) c.1796T>A (p.Leu599Gln) c.1571T>A (p.Leu524Gln) n.2289T>A n.2303T>A | gnomAD v4 |
2 | g.43877591T>C | CA346670809 | ABCG8 | c.1787T>C (p.Leu596Pro) c.1784T>C (p.Leu595Pro) c.1799T>C (p.Leu600Pro) c.1796T>C (p.Leu599Pro) c.1571T>C (p.Leu524Pro) n.2289T>C n.2303T>C | |
2 | g.43877591T>G | CA253368 | ABCG8 | c.1787T>G (p.Leu596Arg) c.1784T>G (p.Leu595Arg) c.1799T>G (p.Leu600Arg) c.1796T>G (p.Leu599Arg) c.1571T>G (p.Leu524Arg) n.2289T>G n.2303T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877591T= | CA2493965017 | ABCG8 | c.1787T= (p.Leu596=) c.1784T= (p.Leu595=) c.1799T= (p.Leu600=) c.1796T= (p.Leu599=) c.1571T= (p.Leu524=) n.2289T= n.2303T= | |
2 | g.43877592G>A | CA425908170 | ABCG8 | c.1788G>A (p.Leu596=) c.1785G>A (p.Leu595=) c.1800G>A (p.Leu600=) c.1797G>A (p.Leu599=) c.1572G>A (p.Leu524=) n.2290G>A n.2304G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877592G>C | CA425908171 | ABCG8 | c.1788G>C (p.Leu596=) c.1785G>C (p.Leu595=) c.1800G>C (p.Leu600=) c.1797G>C (p.Leu599=) c.1572G>C (p.Leu524=) n.2290G>C n.2304G>C | |
2 | g.43877592G= | CA2493965018 | ABCG8 | c.1788G= (p.Leu596=) c.1785G= (p.Leu595=) c.1800G= (p.Leu600=) c.1797G= (p.Leu599=) c.1572G= (p.Leu524=) n.2290G= n.2304G= | |
2 | g.43877592G>T | CA425908169 | ABCG8 | c.1788G>T (p.Leu596=) c.1785G>T (p.Leu595=) c.1800G>T (p.Leu600=) c.1797G>T (p.Leu599=) c.1572G>T (p.Leu524=) n.2290G>T n.2304G>T | |
2 | g.43877593C>A | CA46474130 | ABCG8 | c.1789C>A (p.Arg597=) c.1786C>A (p.Arg596=) c.1801C>A (p.Arg601=) c.1798C>A (p.Arg600=) c.1573C>A (p.Arg525=) n.2291C>A n.2305C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877593C= | CA2493965019 | ABCG8 | c.1789C= (p.Arg597=) c.1786C= (p.Arg596=) c.1801C= (p.Arg601=) c.1798C= (p.Arg600=) c.1573C= (p.Arg525=) n.2291C= n.2305C= | |
2 | g.43877593C>G | CA346670810 | ABCG8 | c.1789C>G (p.Arg597Gly) c.1786C>G (p.Arg596Gly) c.1801C>G (p.Arg601Gly) c.1798C>G (p.Arg600Gly) c.1573C>G (p.Arg525Gly) n.2291C>G n.2305C>G | |
2 | g.43877593C>T | CA1637666 | ABCG8 | c.1789C>T (p.Arg597Trp) c.1786C>T (p.Arg596Trp) c.1801C>T (p.Arg601Trp) c.1798C>T (p.Arg600Trp) c.1573C>T (p.Arg525Trp) n.2291C>T n.2305C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.43877594G>A | CA1637667 | ABCG8 | c.1790G>A (p.Arg597Gln) c.1787G>A (p.Arg596Gln) c.1802G>A (p.Arg601Gln) c.1799G>A (p.Arg600Gln) c.1574G>A (p.Arg525Gln) n.2292G>A n.2306G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.43877594G>C | CA346670811 | ABCG8 | c.1790G>C (p.Arg597Pro) c.1787G>C (p.Arg596Pro) c.1802G>C (p.Arg601Pro) c.1799G>C (p.Arg600Pro) c.1574G>C (p.Arg525Pro) n.2292G>C n.2306G>C | gnomAD v4 |
2 | g.43877594G= | CA2493965020 | ABCG8 | c.1790G= (p.Arg597=) c.1787G= (p.Arg596=) c.1802G= (p.Arg601=) c.1799G= (p.Arg600=) c.1574G= (p.Arg525=) n.2292G= n.2306G= | |
2 | g.43877594G>T | CA346670812 | ABCG8 | c.1790G>T (p.Arg597Leu) c.1787G>T (p.Arg596Leu) c.1802G>T (p.Arg601Leu) c.1799G>T (p.Arg600Leu) c.1574G>T (p.Arg525Leu) n.2292G>T n.2306G>T | |
2 | g.43877595del | CA2658838070 | ABCG8 | c.1791del (p.Trp598GlyfsTer6) c.1788del (p.Trp597GlyfsTer6) c.1803del (p.Trp602GlyfsTer6) c.1800del (p.Trp601GlyfsTer6) c.1575del (p.Trp526GlyfsTer6) n.2293del n.2307del | gnomAD v4 |
2 | g.43877595G>A | CA425908175 | ABCG8 | c.1791G>A (p.Arg597=) c.1788G>A (p.Arg596=) c.1803G>A (p.Arg601=) c.1800G>A (p.Arg600=) c.1575G>A (p.Arg525=) n.2293G>A n.2307G>A | gnomAD v4 |
2 | g.43877595G>C | CA1637668 | ABCG8 | c.1791G>C (p.Arg597=) c.1788G>C (p.Arg596=) c.1803G>C (p.Arg601=) c.1800G>C (p.Arg600=) c.1575G>C (p.Arg525=) n.2293G>C n.2307G>C | dbSNP ExAC gnomAD v4 |
2 | g.43877595G= | CA2493965021 | ABCG8 | c.1791G= (p.Arg597=) c.1788G= (p.Arg596=) c.1803G= (p.Arg601=) c.1800G= (p.Arg600=) c.1575G= (p.Arg525=) n.2293G= n.2307G= | |
2 | g.43877595G>T | CA425908173 | ABCG8 | c.1791G>T (p.Arg597=) c.1788G>T (p.Arg596=) c.1803G>T (p.Arg601=) c.1800G>T (p.Arg600=) c.1575G>T (p.Arg525=) n.2293G>T n.2307G>T | |
2 | g.43877596T>A | CA346670813 | ABCG8 | c.1792T>A (p.Trp598Arg) c.1789T>A (p.Trp597Arg) c.1804T>A (p.Trp602Arg) c.1801T>A (p.Trp601Arg) c.1576T>A (p.Trp526Arg) n.2294T>A n.2308T>A | |
2 | g.43877596T>C | CA346670814 | ABCG8 | c.1792T>C (p.Trp598Arg) c.1789T>C (p.Trp597Arg) c.1804T>C (p.Trp602Arg) c.1801T>C (p.Trp601Arg) c.1576T>C (p.Trp526Arg) n.2294T>C n.2308T>C | ClinVar |
2 | g.43877596T>G | CA346670815 | ABCG8 | c.1792T>G (p.Trp598Gly) c.1789T>G (p.Trp597Gly) c.1804T>G (p.Trp602Gly) c.1801T>G (p.Trp601Gly) c.1576T>G (p.Trp526Gly) n.2294T>G n.2308T>G | gnomAD v4 |
2 | g.43877597G>A | CA346670816 | ABCG8 | c.1793G>A (p.Trp598Ter) c.1790G>A (p.Trp597Ter) c.1805G>A (p.Trp602Ter) c.1802G>A (p.Trp601Ter) c.1577G>A (p.Trp526Ter) n.2295G>A n.2309G>A | |
2 | g.43877597G>C | CA346670817 | ABCG8 | c.1793G>C (p.Trp598Ser) c.1790G>C (p.Trp597Ser) c.1805G>C (p.Trp602Ser) c.1802G>C (p.Trp601Ser) c.1577G>C (p.Trp526Ser) n.2295G>C n.2309G>C | |
2 | g.43877597G>T | CA346670818 | ABCG8 | c.1793G>T (p.Trp598Leu) c.1790G>T (p.Trp597Leu) c.1805G>T (p.Trp602Leu) c.1802G>T (p.Trp601Leu) c.1577G>T (p.Trp526Leu) n.2295G>T n.2309G>T | |
2 | g.43877598G>A | CA346670819 | ABCG8 | c.1794G>A (p.Trp598Ter) c.1791G>A (p.Trp597Ter) c.1806G>A (p.Trp602Ter) c.1803G>A (p.Trp601Ter) c.1578G>A (p.Trp526Ter) n.2296G>A n.2310G>A | gnomAD v4 |
2 | g.43877598G>C | CA46474190 | ABCG8 | c.1794G>C (p.Trp598Cys) c.1791G>C (p.Trp597Cys) c.1806G>C (p.Trp602Cys) c.1803G>C (p.Trp601Cys) c.1578G>C (p.Trp526Cys) n.2296G>C n.2310G>C | dbSNP gnomAD v4 |
2 | g.43877598G= | CA2493965022 | ABCG8 | c.1794G= (p.Trp598=) c.1791G= (p.Trp597=) c.1806G= (p.Trp602=) c.1803G= (p.Trp601=) c.1578G= (p.Trp526=) n.2296G= n.2310G= | |
2 | g.43877598G>T | CA346670820 | ABCG8 | c.1794G>T (p.Trp598Cys) c.1791G>T (p.Trp597Cys) c.1806G>T (p.Trp602Cys) c.1803G>T (p.Trp601Cys) c.1578G>T (p.Trp526Cys) n.2296G>T n.2310G>T | |
2 | g.43877600_43877601del | CA2658838071 | ABCG8 | c.1796_1797del (p.Cys599PhefsTer2) c.1793_1794del (p.Cys598PhefsTer2) c.1808_1809del (p.Cys603PhefsTer2) c.1805_1806del (p.Cys602PhefsTer2) c.1580_1581del (p.Cys527PhefsTer2) n.2298_2299del n.2312_2313del | gnomAD v4 |
2 | g.43877599T>A | CA346670821 | ABCG8 | c.1795T>A (p.Cys599Ser) c.1792T>A (p.Cys598Ser) c.1807T>A (p.Cys603Ser) c.1804T>A (p.Cys602Ser) c.1579T>A (p.Cys527Ser) n.2297T>A n.2311T>A | |
2 | g.43877599T>C | CA346670822 | ABCG8 | c.1795T>C (p.Cys599Arg) c.1792T>C (p.Cys598Arg) c.1807T>C (p.Cys603Arg) c.1804T>C (p.Cys602Arg) c.1579T>C (p.Cys527Arg) n.2297T>C n.2311T>C | |
2 | g.43877599T>G | CA346670823 | ABCG8 | c.1795T>G (p.Cys599Gly) c.1792T>G (p.Cys598Gly) c.1807T>G (p.Cys603Gly) c.1804T>G (p.Cys602Gly) c.1579T>G (p.Cys527Gly) n.2297T>G n.2311T>G | |
2 | g.43877600G>A | CA346670826 | ABCG8 | c.1796G>A (p.Cys599Tyr) c.1793G>A (p.Cys598Tyr) c.1808G>A (p.Cys603Tyr) c.1805G>A (p.Cys602Tyr) c.1580G>A (p.Cys527Tyr) n.2298G>A n.2312G>A | |
2 | g.43877600G>C | CA346670825 | ABCG8 | c.1796G>C (p.Cys599Ser) c.1793G>C (p.Cys598Ser) c.1808G>C (p.Cys603Ser) c.1805G>C (p.Cys602Ser) c.1580G>C (p.Cys527Ser) n.2298G>C n.2312G>C | |
2 | g.43877600G>T | CA346670824 | ABCG8 | c.1796G>T (p.Cys599Phe) c.1793G>T (p.Cys598Phe) c.1808G>T (p.Cys603Phe) c.1805G>T (p.Cys602Phe) c.1580G>T (p.Cys527Phe) n.2298G>T n.2312G>T | |
2 | g.43877601T>A | CA346670828 | ABCG8 | c.1797T>A (p.Cys599Ter) c.1794T>A (p.Cys598Ter) c.1809T>A (p.Cys603Ter) c.1806T>A (p.Cys602Ter) c.1581T>A (p.Cys527Ter) n.2299T>A n.2313T>A | |
2 | g.43877601T>C | CA425908178 | ABCG8 | c.1797T>C (p.Cys599=) c.1794T>C (p.Cys598=) c.1809T>C (p.Cys603=) c.1806T>C (p.Cys602=) c.1581T>C (p.Cys527=) n.2299T>C n.2313T>C | |
2 | g.43877601T>G | CA346670827 | ABCG8 | c.1797T>G (p.Cys599Trp) c.1794T>G (p.Cys598Trp) c.1809T>G (p.Cys603Trp) c.1806T>G (p.Cys602Trp) c.1581T>G (p.Cys527Trp) n.2299T>G n.2313T>G | dbSNP gnomAD v4 |
2 | g.43877601T= | CA2493965023 | ABCG8 | c.1797T= (p.Cys599=) c.1794T= (p.Cys598=) c.1809T= (p.Cys603=) c.1806T= (p.Cys602=) c.1581T= (p.Cys527=) n.2299T= n.2313T= | |
2 | g.43877602T>A | CA346670829 | ABCG8 | c.1798T>A (p.Phe600Ile) c.1795T>A (p.Phe599Ile) c.1810T>A (p.Phe604Ile) c.1807T>A (p.Phe603Ile) c.1582T>A (p.Phe528Ile) n.2300T>A n.2314T>A | |
2 | g.43877602T>C | CA346670830 | ABCG8 | c.1798T>C (p.Phe600Leu) c.1795T>C (p.Phe599Leu) c.1810T>C (p.Phe604Leu) c.1807T>C (p.Phe603Leu) c.1582T>C (p.Phe528Leu) n.2300T>C n.2314T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877602T>G | CA346670831 | ABCG8 | c.1798T>G (p.Phe600Val) c.1795T>G (p.Phe599Val) c.1810T>G (p.Phe604Val) c.1807T>G (p.Phe603Val) c.1582T>G (p.Phe528Val) n.2300T>G n.2314T>G | |
2 | g.43877602T= | CA2493965024 | ABCG8 | c.1798T= (p.Phe600=) c.1795T= (p.Phe599=) c.1810T= (p.Phe604=) c.1807T= (p.Phe603=) c.1582T= (p.Phe528=) n.2300T= n.2314T= | |
2 | g.43877603T>A | CA346670832 | ABCG8 | c.1799T>A (p.Phe600Tyr) c.1796T>A (p.Phe599Tyr) c.1811T>A (p.Phe604Tyr) c.1808T>A (p.Phe603Tyr) c.1583T>A (p.Phe528Tyr) n.2301T>A n.2315T>A | |
2 | g.43877603T>C | CA346670833 | ABCG8 | c.1799T>C (p.Phe600Ser) c.1796T>C (p.Phe599Ser) c.1811T>C (p.Phe604Ser) c.1808T>C (p.Phe603Ser) c.1583T>C (p.Phe528Ser) n.2301T>C n.2315T>C | |
2 | g.43877603T>G | CA346670834 | ABCG8 | c.1799T>G (p.Phe600Cys) c.1796T>G (p.Phe599Cys) c.1811T>G (p.Phe604Cys) c.1808T>G (p.Phe603Cys) c.1583T>G (p.Phe528Cys) n.2301T>G n.2315T>G | gnomAD v4 |
2 | g.43877604T>A | CA346670835 | ABCG8 | c.1800T>A (p.Phe600Leu) c.1797T>A (p.Phe599Leu) c.1812T>A (p.Phe604Leu) c.1809T>A (p.Phe603Leu) c.1584T>A (p.Phe528Leu) n.2302T>A n.2316T>A | |
2 | g.43877604T>C | CA425908181 | ABCG8 | c.1800T>C (p.Phe600=) c.1797T>C (p.Phe599=) c.1812T>C (p.Phe604=) c.1809T>C (p.Phe603=) c.1584T>C (p.Phe528=) n.2302T>C n.2316T>C | |
2 | g.43877604T>G | CA346670836 | ABCG8 | c.1800T>G (p.Phe600Leu) c.1797T>G (p.Phe599Leu) c.1812T>G (p.Phe604Leu) c.1809T>G (p.Phe603Leu) c.1584T>G (p.Phe528Leu) n.2302T>G n.2316T>G | |
2 | g.43877605G>A | CA346670837 | ABCG8 | c.1801G>A (p.Glu601Lys) c.1798G>A (p.Glu600Lys) c.1813G>A (p.Glu605Lys) c.1810G>A (p.Glu604Lys) c.1585G>A (p.Glu529Lys) n.2303G>A n.2317G>A | |
2 | g.43877605G>C | CA346670838 | ABCG8 | c.1801G>C (p.Glu601Gln) c.1798G>C (p.Glu600Gln) c.1813G>C (p.Glu605Gln) c.1810G>C (p.Glu604Gln) c.1585G>C (p.Glu529Gln) n.2303G>C n.2317G>C | COSMIC |
2 | g.43877605G>T | CA346670839 | ABCG8 | c.1801G>T (p.Glu601Ter) c.1798G>T (p.Glu600Ter) c.1813G>T (p.Glu605Ter) c.1810G>T (p.Glu604Ter) c.1585G>T (p.Glu529Ter) n.2303G>T n.2317G>T | |
2 | g.43877606A>C | CA346670842 | ABCG8 | c.1802A>C (p.Glu601Ala) c.1799A>C (p.Glu600Ala) c.1814A>C (p.Glu605Ala) c.1811A>C (p.Glu604Ala) c.1586A>C (p.Glu529Ala) n.2304A>C n.2318A>C | |
2 | g.43877606A>G | CA346670841 | ABCG8 | c.1802A>G (p.Glu601Gly) c.1799A>G (p.Glu600Gly) c.1814A>G (p.Glu605Gly) c.1811A>G (p.Glu604Gly) c.1586A>G (p.Glu529Gly) n.2304A>G n.2318A>G | |
2 | g.43877606A>T | CA346670840 | ABCG8 | c.1802A>T (p.Glu601Val) c.1799A>T (p.Glu600Val) c.1814A>T (p.Glu605Val) c.1811A>T (p.Glu604Val) c.1586A>T (p.Glu529Val) n.2304A>T n.2318A>T | |
2 | g.43877607A= | CA2493965025 | ABCG8 | c.1803A= (p.Glu601=) c.1800A= (p.Glu600=) c.1815A= (p.Glu605=) c.1812A= (p.Glu604=) c.1587A= (p.Glu529=) n.2305A= n.2319A= | |
2 | g.43877607A>C | CA346670843 | ABCG8 | c.1803A>C (p.Glu601Asp) c.1800A>C (p.Glu600Asp) c.1815A>C (p.Glu605Asp) c.1812A>C (p.Glu604Asp) c.1587A>C (p.Glu529Asp) n.2305A>C n.2319A>C | |
2 | g.43877607A>G | CA425908184 | ABCG8 | c.1803A>G (p.Glu601=) c.1800A>G (p.Glu600=) c.1815A>G (p.Glu605=) c.1812A>G (p.Glu604=) c.1587A>G (p.Glu529=) n.2305A>G n.2319A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877607A>T | CA346670844 | ABCG8 | c.1803A>T (p.Glu601Asp) c.1800A>T (p.Glu600Asp) c.1815A>T (p.Glu605Asp) c.1812A>T (p.Glu604Asp) c.1587A>T (p.Glu529Asp) n.2305A>T n.2319A>T | |
2 | g.43877608G>A | CA1637669 | ABCG8 | c.1804G>A (p.Gly602Arg) c.1801G>A (p.Gly601Arg) c.1816G>A (p.Gly606Arg) c.1813G>A (p.Gly605Arg) c.1588G>A (p.Gly530Arg) n.2306G>A n.2320G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877608G>C | CA346670845 | ABCG8 | c.1804G>C (p.Gly602Arg) c.1801G>C (p.Gly601Arg) c.1816G>C (p.Gly606Arg) c.1813G>C (p.Gly605Arg) c.1588G>C (p.Gly530Arg) n.2306G>C n.2320G>C | |
2 | g.43877608G= | CA2493965026 | ABCG8 | c.1804G= (p.Gly602=) c.1801G= (p.Gly601=) c.1816G= (p.Gly606=) c.1813G= (p.Gly605=) c.1588G= (p.Gly530=) n.2306G= n.2320G= | |
2 | g.43877608G>T | CA346670846 | ABCG8 | c.1804G>T (p.Gly602Trp) c.1801G>T (p.Gly601Trp) c.1816G>T (p.Gly606Trp) c.1813G>T (p.Gly605Trp) c.1588G>T (p.Gly530Trp) n.2306G>T n.2320G>T | |
2 | g.43877609G>A | CA346670847 | ABCG8 | c.1805G>A (p.Gly602Glu) c.1802G>A (p.Gly601Glu) c.1817G>A (p.Gly606Glu) c.1814G>A (p.Gly605Glu) c.1589G>A (p.Gly530Glu) n.2307G>A n.2321G>A | |
2 | g.43877609G>C | CA346670848 | ABCG8 | c.1805G>C (p.Gly602Ala) c.1802G>C (p.Gly601Ala) c.1817G>C (p.Gly606Ala) c.1814G>C (p.Gly605Ala) c.1589G>C (p.Gly530Ala) n.2307G>C n.2321G>C | |
2 | g.43877609G>T | CA346670849 | ABCG8 | c.1805G>T (p.Gly602Val) c.1802G>T (p.Gly601Val) c.1817G>T (p.Gly606Val) c.1814G>T (p.Gly605Val) c.1589G>T (p.Gly530Val) n.2307G>T n.2321G>T | |
2 | g.43877610G>A | CA425908189 | ABCG8 | c.1806G>A (p.Gly602=) c.1803G>A (p.Gly601=) c.1818G>A (p.Gly606=) c.1815G>A (p.Gly605=) c.1590G>A (p.Gly530=) n.2308G>A n.2322G>A | gnomAD v4 |
2 | g.43877610G>C | CA425908190 | ABCG8 | c.1806G>C (p.Gly602=) c.1803G>C (p.Gly601=) c.1818G>C (p.Gly606=) c.1815G>C (p.Gly605=) c.1590G>C (p.Gly530=) n.2308G>C n.2322G>C | |
2 | g.43877610G>T | CA425908191 | ABCG8 | c.1806G>T (p.Gly602=) c.1803G>T (p.Gly601=) c.1818G>T (p.Gly606=) c.1815G>T (p.Gly605=) c.1590G>T (p.Gly530=) n.2308G>T n.2322G>T | |
2 | g.43877611C>A | CA346670850 | ABCG8 | c.1807C>A (p.Leu603Met) c.1804C>A (p.Leu602Met) c.1819C>A (p.Leu607Met) c.1816C>A (p.Leu606Met) c.1591C>A (p.Leu531Met) n.2309C>A n.2323C>A | |
2 | g.43877611C= | CA2493965027 | ABCG8 | c.1807C= (p.Leu603=) c.1804C= (p.Leu602=) c.1819C= (p.Leu607=) c.1816C= (p.Leu606=) c.1591C= (p.Leu531=) n.2309C= n.2323C= | |
2 | g.43877611C>G | CA1637670 | ABCG8 | c.1807C>G (p.Leu603Val) c.1804C>G (p.Leu602Val) c.1819C>G (p.Leu607Val) c.1816C>G (p.Leu606Val) c.1591C>G (p.Leu531Val) n.2309C>G n.2323C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877611C>T | CA425908192 | ABCG8 | c.1807C>T (p.Leu603=) c.1804C>T (p.Leu602=) c.1819C>T (p.Leu607=) c.1816C>T (p.Leu606=) c.1591C>T (p.Leu531=) n.2309C>T n.2323C>T | |
2 | g.43877612T>A | CA346670851 | ABCG8 | c.1808T>A (p.Leu603Gln) c.1805T>A (p.Leu602Gln) c.1820T>A (p.Leu607Gln) c.1817T>A (p.Leu606Gln) c.1592T>A (p.Leu531Gln) n.2310T>A n.2324T>A | |
2 | g.43877612T>C | CA346670852 | ABCG8 | c.1808T>C (p.Leu603Pro) c.1805T>C (p.Leu602Pro) c.1820T>C (p.Leu607Pro) c.1817T>C (p.Leu606Pro) c.1592T>C (p.Leu531Pro) n.2310T>C n.2324T>C | |
2 | g.43877612T>G | CA346670853 | ABCG8 | c.1808T>G (p.Leu603Arg) c.1805T>G (p.Leu602Arg) c.1820T>G (p.Leu607Arg) c.1817T>G (p.Leu606Arg) c.1592T>G (p.Leu531Arg) n.2310T>G n.2324T>G | |
2 | g.43877613G>A | CA425908195 | ABCG8 | c.1809G>A (p.Leu603=) c.1806G>A (p.Leu602=) c.1821G>A (p.Leu607=) c.1818G>A (p.Leu606=) c.1593G>A (p.Leu531=) n.2311G>A n.2325G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877613G>C | CA425908196 | ABCG8 | c.1809G>C (p.Leu603=) c.1806G>C (p.Leu602=) c.1821G>C (p.Leu607=) c.1818G>C (p.Leu606=) c.1593G>C (p.Leu531=) n.2311G>C n.2325G>C | |
2 | g.43877613G= | CA2493965028 | ABCG8 | c.1809G= (p.Leu603=) c.1806G= (p.Leu602=) c.1821G= (p.Leu607=) c.1818G= (p.Leu606=) c.1593G= (p.Leu531=) n.2311G= n.2325G= | |
2 | g.43877613G>T | CA425908194 | ABCG8 | c.1809G>T (p.Leu603=) c.1806G>T (p.Leu602=) c.1821G>T (p.Leu607=) c.1818G>T (p.Leu606=) c.1593G>T (p.Leu531=) n.2311G>T n.2325G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877614A>C | CA346670855 | ABCG8 | c.1810A>C (p.Met604Leu) c.1807A>C (p.Met603Leu) c.1822A>C (p.Met608Leu) c.1819A>C (p.Met607Leu) c.1594A>C (p.Met532Leu) n.2312A>C n.2326A>C | |
2 | g.43877614A>G | CA346670856 | ABCG8 | c.1810A>G (p.Met604Val) c.1807A>G (p.Met603Val) c.1822A>G (p.Met608Val) c.1819A>G (p.Met607Val) c.1594A>G (p.Met532Val) n.2312A>G n.2326A>G | |
2 | g.43877614A>T | CA346670854 | ABCG8 | c.1810A>T (p.Met604Leu) c.1807A>T (p.Met603Leu) c.1822A>T (p.Met608Leu) c.1819A>T (p.Met607Leu) c.1594A>T (p.Met532Leu) n.2312A>T n.2326A>T | gnomAD v4 |
2 | g.43877615T>A | CA346670857 | ABCG8 | c.1811T>A (p.Met604Lys) c.1808T>A (p.Met603Lys) c.1823T>A (p.Met608Lys) c.1820T>A (p.Met607Lys) c.1595T>A (p.Met532Lys) n.2313T>A n.2327T>A | |
2 | g.43877615T>C | CA346670858 | ABCG8 | c.1811T>C (p.Met604Thr) c.1808T>C (p.Met603Thr) c.1823T>C (p.Met608Thr) c.1820T>C (p.Met607Thr) c.1595T>C (p.Met532Thr) n.2313T>C n.2327T>C | gnomAD v4 |
2 | g.43877615T>G | CA346670859 | ABCG8 | c.1811T>G (p.Met604Arg) c.1808T>G (p.Met603Arg) c.1823T>G (p.Met608Arg) c.1820T>G (p.Met607Arg) c.1595T>G (p.Met532Arg) n.2313T>G n.2327T>G | |
2 | g.43877615_43877618delinsTGAA | CA2493965029 | ABCG8 | c.1811_1814delinsTGAA (p.Met604=) c.1808_1811delinsTGAA (p.Met603=) c.1823_1826delinsTGAA (p.Met608=) c.1820_1823delinsTGAA (p.Met607=) c.1595_1598delinsTGAA (p.Met532=) n.2313_2316delinsTGAA n.2327_2330delinsTGAA | |
2 | g.43877616G>A | CA346670860 | ABCG8 | c.1812G>A (p.Met604Ile) c.1809G>A (p.Met603Ile) c.1824G>A (p.Met608Ile) c.1821G>A (p.Met607Ile) c.1596G>A (p.Met532Ile) n.2314G>A n.2328G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877616G>C | CA346670861 | ABCG8 | c.1812G>C (p.Met604Ile) c.1809G>C (p.Met603Ile) c.1824G>C (p.Met608Ile) c.1821G>C (p.Met607Ile) c.1596G>C (p.Met532Ile) n.2314G>C n.2328G>C | |
2 | g.43877616G= | CA2493965030 | ABCG8 | c.1812G= (p.Met604=) c.1809G= (p.Met603=) c.1824G= (p.Met608=) c.1821G= (p.Met607=) c.1596G= (p.Met532=) n.2314G= n.2328G= | |
2 | g.43877616G>T | CA346670862 | ABCG8 | c.1812G>T (p.Met604Ile) c.1809G>T (p.Met603Ile) c.1824G>T (p.Met608Ile) c.1821G>T (p.Met607Ile) c.1596G>T (p.Met532Ile) n.2314G>T n.2328G>T | gnomAD v4 |
2 | g.43877618_43877620del | CA1637671 | ABCG8 | c.1814_1816del (p.Lys605del) c.1811_1813del (p.Lys604del) c.1826_1828del (p.Lys609del) c.1823_1825del (p.Lys608del) c.1598_1600del (p.Lys533del) n.2316_2318del n.2330_2332del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877617A>C | CA346670863 | ABCG8 | c.1813A>C (p.Lys605Gln) c.1810A>C (p.Lys604Gln) c.1825A>C (p.Lys609Gln) c.1822A>C (p.Lys608Gln) c.1597A>C (p.Lys533Gln) n.2315A>C n.2329A>C | |
2 | g.43877617A>G | CA346670864 | ABCG8 | c.1813A>G (p.Lys605Glu) c.1810A>G (p.Lys604Glu) c.1825A>G (p.Lys609Glu) c.1822A>G (p.Lys608Glu) c.1597A>G (p.Lys533Glu) n.2315A>G n.2329A>G | |
2 | g.43877617A>T | CA346670865 | ABCG8 | c.1813A>T (p.Lys605Ter) c.1810A>T (p.Lys604Ter) c.1825A>T (p.Lys609Ter) c.1822A>T (p.Lys608Ter) c.1597A>T (p.Lys533Ter) n.2315A>T n.2329A>T | |
2 | g.43877618A>C | CA346670866 | ABCG8 | c.1814A>C (p.Lys605Thr) c.1811A>C (p.Lys604Thr) c.1826A>C (p.Lys609Thr) c.1823A>C (p.Lys608Thr) c.1598A>C (p.Lys533Thr) n.2316A>C n.2330A>C | |
2 | g.43877618A>G | CA346670867 | ABCG8 | c.1814A>G (p.Lys605Arg) c.1811A>G (p.Lys604Arg) c.1826A>G (p.Lys609Arg) c.1823A>G (p.Lys608Arg) c.1598A>G (p.Lys533Arg) n.2316A>G n.2330A>G | |
2 | g.43877618A>T | CA346670868 | ABCG8 | c.1814A>T (p.Lys605Met) c.1811A>T (p.Lys604Met) c.1826A>T (p.Lys609Met) c.1823A>T (p.Lys608Met) c.1598A>T (p.Lys533Met) n.2316A>T n.2330A>T | |
2 | g.43877619G>A | CA1637672 | ABCG8 | c.1815G>A (p.Lys605=) c.1812G>A (p.Lys604=) c.1827G>A (p.Lys609=) c.1824G>A (p.Lys608=) c.1599G>A (p.Lys533=) n.2317G>A n.2331G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877619G>C | CA346670870 | ABCG8 | c.1815G>C (p.Lys605Asn) c.1812G>C (p.Lys604Asn) c.1827G>C (p.Lys609Asn) c.1824G>C (p.Lys608Asn) c.1599G>C (p.Lys533Asn) n.2317G>C n.2331G>C | |
2 | g.43877619G= | CA2493965031 | ABCG8 | c.1815G= (p.Lys605=) c.1812G= (p.Lys604=) c.1827G= (p.Lys609=) c.1824G= (p.Lys608=) c.1599G= (p.Lys533=) n.2317G= n.2331G= | |
2 | g.43877619G>T | CA346670869 | ABCG8 | c.1815G>T (p.Lys605Asn) c.1812G>T (p.Lys604Asn) c.1827G>T (p.Lys609Asn) c.1824G>T (p.Lys608Asn) c.1599G>T (p.Lys533Asn) n.2317G>T n.2331G>T | gnomAD v4 |
2 | g.43877620A= | CA2493965033 | ABCG8 | c.1816A= (p.Ile606=) c.1813A= (p.Ile605=) c.1828A= (p.Ile610=) c.1825A= (p.Ile609=) c.1600A= (p.Ile534=) n.2318A= n.2332A= | |
2 | g.43877620A>C | CA346670871 | ABCG8 | c.1816A>C (p.Ile606Leu) c.1813A>C (p.Ile605Leu) c.1828A>C (p.Ile610Leu) c.1825A>C (p.Ile609Leu) c.1600A>C (p.Ile534Leu) n.2318A>C n.2332A>C | |
2 | g.43877620A>G | CA346670872 | ABCG8 | c.1816A>G (p.Ile606Val) c.1813A>G (p.Ile605Val) c.1828A>G (p.Ile610Val) c.1825A>G (p.Ile609Val) c.1600A>G (p.Ile534Val) n.2318A>G n.2332A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877620A>T | CA346670873 | ABCG8 | c.1816A>T (p.Ile606Phe) c.1813A>T (p.Ile605Phe) c.1828A>T (p.Ile610Phe) c.1825A>T (p.Ile609Phe) c.1600A>T (p.Ile534Phe) n.2318A>T n.2332A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877620_43877621delinsAT | CA2493965032 | ABCG8 | c.1816_1817delinsAT (p.Ile606=) c.1813_1814delinsAT (p.Ile605=) c.1828_1829delinsAT (p.Ile610=) c.1825_1826delinsAT (p.Ile609=) c.1600_1601delinsAT (p.Ile534=) n.2318_2319delinsAT n.2332_2333delinsAT | |
2 | g.43877621T>A | CA346670874 | ABCG8 | c.1817T>A (p.Ile606Asn) c.1814T>A (p.Ile605Asn) c.1829T>A (p.Ile610Asn) c.1826T>A (p.Ile609Asn) c.1601T>A (p.Ile534Asn) n.2319T>A n.2333T>A | |
2 | g.43877621T>C | CA346670875 | ABCG8 | c.1817T>C (p.Ile606Thr) c.1814T>C (p.Ile605Thr) c.1829T>C (p.Ile610Thr) c.1826T>C (p.Ile609Thr) c.1601T>C (p.Ile534Thr) n.2319T>C n.2333T>C | ClinVar dbSNP |
2 | g.43877621T>G | CA346670876 | ABCG8 | c.1817T>G (p.Ile606Ser) c.1814T>G (p.Ile605Ser) c.1829T>G (p.Ile610Ser) c.1826T>G (p.Ile609Ser) c.1601T>G (p.Ile534Ser) n.2319T>G n.2333T>G | |
2 | g.43877621T= | CA2493965034 | ABCG8 | c.1817T= (p.Ile606=) c.1814T= (p.Ile605=) c.1829T= (p.Ile610=) c.1826T= (p.Ile609=) c.1601T= (p.Ile534=) n.2319T= n.2333T= | |
2 | g.43877622del | CA769091425 | ABCG8 | c.1818del (p.Gln607SerfsTer?) c.1815del (p.Gln606SerfsTer?) c.1830del (p.Gln611SerfsTer?) c.1827del (p.Gln610SerfsTer?) c.1602del (p.Gln535SerfsTer?) n.2320del n.2334del | dbSNP |
2 | g.43877622T>A | CA425908203 | ABCG8 | c.1818T>A (p.Ile606=) c.1815T>A (p.Ile605=) c.1830T>A (p.Ile610=) c.1827T>A (p.Ile609=) c.1602T>A (p.Ile534=) n.2320T>A n.2334T>A | |
2 | g.43877622T>C | CA425908204 | ABCG8 | c.1818T>C (p.Ile606=) c.1815T>C (p.Ile605=) c.1830T>C (p.Ile610=) c.1827T>C (p.Ile609=) c.1602T>C (p.Ile534=) n.2320T>C n.2334T>C | |
2 | g.43877622T>G | CA346670877 | ABCG8 | c.1818T>G (p.Ile606Met) c.1815T>G (p.Ile605Met) c.1830T>G (p.Ile610Met) c.1827T>G (p.Ile609Met) c.1602T>G (p.Ile534Met) n.2320T>G n.2334T>G | |
2 | g.43877623C>A | CA346670878 | ABCG8 | c.1819C>A (p.Gln607Lys) c.1816C>A (p.Gln606Lys) c.1831C>A (p.Gln611Lys) c.1828C>A (p.Gln610Lys) c.1603C>A (p.Gln535Lys) n.2321C>A n.2335C>A | gnomAD v4 |
2 | g.43877623C= | CA2493965035 | ABCG8 | c.1819C= (p.Gln607=) c.1816C= (p.Gln606=) c.1831C= (p.Gln611=) c.1828C= (p.Gln610=) c.1603C= (p.Gln535=) n.2321C= n.2335C= | |
2 | g.43877623C>G | CA346670879 | ABCG8 | c.1819C>G (p.Gln607Glu) c.1816C>G (p.Gln606Glu) c.1831C>G (p.Gln611Glu) c.1828C>G (p.Gln610Glu) c.1603C>G (p.Gln535Glu) n.2321C>G n.2335C>G | gnomAD v4 |
2 | g.43877623C>T | CA1637673 | ABCG8 | c.1819C>T (p.Gln607Ter) c.1816C>T (p.Gln606Ter) c.1831C>T (p.Gln611Ter) c.1828C>T (p.Gln610Ter) c.1603C>T (p.Gln535Ter) n.2321C>T n.2335C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877624A= | CA2493965036 | ABCG8 | c.1820A= (p.Gln607=) c.1817A= (p.Gln606=) c.1832A= (p.Gln611=) c.1829A= (p.Gln610=) c.1604A= (p.Gln535=) n.2322A= n.2336A= | |
2 | g.43877624A>C | CA346670880 | ABCG8 | c.1820A>C (p.Gln607Pro) c.1817A>C (p.Gln606Pro) c.1832A>C (p.Gln611Pro) c.1829A>C (p.Gln610Pro) c.1604A>C (p.Gln535Pro) n.2322A>C n.2336A>C | |
2 | g.43877624A>G | CA346670881 | ABCG8 | c.1820A>G (p.Gln607Arg) c.1817A>G (p.Gln606Arg) c.1832A>G (p.Gln611Arg) c.1829A>G (p.Gln610Arg) c.1604A>G (p.Gln535Arg) n.2322A>G n.2336A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877624A>T | CA346670882 | ABCG8 | c.1820A>T (p.Gln607Leu) c.1817A>T (p.Gln606Leu) c.1832A>T (p.Gln611Leu) c.1829A>T (p.Gln610Leu) c.1604A>T (p.Gln535Leu) n.2322A>T n.2336A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877625G>A | CA1637674 | ABCG8 | c.1821G>A (p.Gln607=) c.1818G>A (p.Gln606=) c.1833G>A (p.Gln611=) c.1830G>A (p.Gln610=) c.1605G>A (p.Gln535=) n.2323G>A n.2337G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877625G>C | CA346670884 | ABCG8 | c.1821G>C (p.Gln607His) c.1818G>C (p.Gln606His) c.1833G>C (p.Gln611His) c.1830G>C (p.Gln610His) c.1605G>C (p.Gln535His) n.2323G>C n.2337G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877625G= | CA2493965037 | ABCG8 | c.1821G= (p.Gln607=) c.1818G= (p.Gln606=) c.1833G= (p.Gln611=) c.1830G= (p.Gln610=) c.1605G= (p.Gln535=) n.2323G= n.2337G= | |
2 | g.43877625G>T | CA346670883 | ABCG8 | c.1821G>T (p.Gln607His) c.1818G>T (p.Gln606His) c.1833G>T (p.Gln611His) c.1830G>T (p.Gln610His) c.1605G>T (p.Gln535His) n.2323G>T n.2337G>T | ClinVar dbSNP gnomAD v2 |
2 | g.43877626T>A | CA346670885 | ABCG8 | c.1822T>A (p.Phe608Ile) c.1819T>A (p.Phe607Ile) c.1834T>A (p.Phe612Ile) c.1831T>A (p.Phe611Ile) c.1606T>A (p.Phe536Ile) n.2324T>A n.2338T>A | |
2 | g.43877626T>C | CA346670886 | ABCG8 | c.1822T>C (p.Phe608Leu) c.1819T>C (p.Phe607Leu) c.1834T>C (p.Phe612Leu) c.1831T>C (p.Phe611Leu) c.1606T>C (p.Phe536Leu) n.2324T>C n.2338T>C | |
2 | g.43877626T>G | CA346670887 | ABCG8 | c.1822T>G (p.Phe608Val) c.1819T>G (p.Phe607Val) c.1834T>G (p.Phe612Val) c.1831T>G (p.Phe611Val) c.1606T>G (p.Phe536Val) n.2324T>G n.2338T>G | |
2 | g.43877627T>A | CA346670888 | ABCG8 | c.1823T>A (p.Phe608Tyr) c.1820T>A (p.Phe607Tyr) c.1835T>A (p.Phe612Tyr) c.1832T>A (p.Phe611Tyr) c.1607T>A (p.Phe536Tyr) n.2325T>A n.2339T>A | |
2 | g.43877627T>C | CA346670889 | ABCG8 | c.1823T>C (p.Phe608Ser) c.1820T>C (p.Phe607Ser) c.1835T>C (p.Phe612Ser) c.1832T>C (p.Phe611Ser) c.1607T>C (p.Phe536Ser) n.2325T>C n.2339T>C | |
2 | g.43877627T>G | CA346670890 | ABCG8 | c.1823T>G (p.Phe608Cys) c.1820T>G (p.Phe607Cys) c.1835T>G (p.Phe612Cys) c.1832T>G (p.Phe611Cys) c.1607T>G (p.Phe536Cys) n.2325T>G n.2339T>G | |
2 | g.43877628C>A | CA346670891 | ABCG8 | c.1824C>A (p.Phe608Leu) c.1821C>A (p.Phe607Leu) c.1836C>A (p.Phe612Leu) c.1833C>A (p.Phe611Leu) c.1608C>A (p.Phe536Leu) n.2326C>A n.2340C>A | |
2 | g.43877628C>G | CA346670892 | ABCG8 | c.1824C>G (p.Phe608Leu) c.1821C>G (p.Phe607Leu) c.1836C>G (p.Phe612Leu) c.1833C>G (p.Phe611Leu) c.1608C>G (p.Phe536Leu) n.2326C>G n.2340C>G | |
2 | g.43877628C>T | CA425908211 | ABCG8 | c.1824C>T (p.Phe608=) c.1821C>T (p.Phe607=) c.1836C>T (p.Phe612=) c.1833C>T (p.Phe611=) c.1608C>T (p.Phe536=) n.2326C>T n.2340C>T | |
2 | g.43877629A= | CA2493965039 | ABCG8 | c.1825A= (p.Ser609=) c.1822A= (p.Ser608=) c.1837A= (p.Ser613=) c.1834A= (p.Ser612=) c.1609A= (p.Ser537=) n.2327A= n.2341A= | |
2 | g.43877629A>C | CA346670893 | ABCG8 | c.1825A>C (p.Ser609Arg) c.1822A>C (p.Ser608Arg) c.1837A>C (p.Ser613Arg) c.1834A>C (p.Ser612Arg) c.1609A>C (p.Ser537Arg) n.2327A>C n.2341A>C | |
2 | g.43877629A>G | CA346670894 | ABCG8 | c.1825A>G (p.Ser609Gly) c.1822A>G (p.Ser608Gly) c.1837A>G (p.Ser613Gly) c.1834A>G (p.Ser612Gly) c.1609A>G (p.Ser537Gly) n.2327A>G n.2341A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877629A>T | CA346670895 | ABCG8 | c.1825A>T (p.Ser609Cys) c.1822A>T (p.Ser608Cys) c.1837A>T (p.Ser613Cys) c.1834A>T (p.Ser612Cys) c.1609A>T (p.Ser537Cys) n.2327A>T n.2341A>T | |
2 | g.43877629_43877630delinsAG | CA2493965038 | ABCG8 | c.1825_1826delinsAG (p.Ser609=) c.1822_1823delinsAG (p.Ser608=) c.1837_1838delinsAG (p.Ser613=) c.1834_1835delinsAG (p.Ser612=) c.1609_1610delinsAG (p.Ser537=) n.2327_2328delinsAG n.2341_2342delinsAG | |
2 | g.43877630del | CA2493965040 | ABCG8 | c.1826del (p.Ser609ThrfsTer?) c.1823del (p.Ser608ThrfsTer?) c.1838del (p.Ser613ThrfsTer?) c.1835del (p.Ser612ThrfsTer?) c.1610del (p.Ser537ThrfsTer?) n.2328del n.2342del | dbSNP |
2 | g.43877630G>A | CA346670898 | ABCG8 | c.1826G>A (p.Ser609Asn) c.1823G>A (p.Ser608Asn) c.1838G>A (p.Ser613Asn) c.1835G>A (p.Ser612Asn) c.1610G>A (p.Ser537Asn) n.2328G>A n.2342G>A | |
2 | g.43877630G>C | CA346670897 | ABCG8 | c.1826G>C (p.Ser609Thr) c.1823G>C (p.Ser608Thr) c.1838G>C (p.Ser613Thr) c.1835G>C (p.Ser612Thr) c.1610G>C (p.Ser537Thr) n.2328G>C n.2342G>C | gnomAD v4 |
2 | g.43877630G>T | CA346670896 | ABCG8 | c.1826G>T (p.Ser609Ile) c.1823G>T (p.Ser608Ile) c.1838G>T (p.Ser613Ile) c.1835G>T (p.Ser612Ile) c.1610G>T (p.Ser537Ile) n.2328G>T n.2342G>T | |
2 | g.43877631C>A | CA346670899 | ABCG8 | c.1827C>A (p.Ser609Arg) c.1824C>A (p.Ser608Arg) c.1839C>A (p.Ser613Arg) c.1836C>A (p.Ser612Arg) c.1611C>A (p.Ser537Arg) n.2329C>A n.2343C>A | |
2 | g.43877631C= | CA2493965042 | ABCG8 | c.1827C= (p.Ser609=) c.1824C= (p.Ser608=) c.1839C= (p.Ser613=) c.1836C= (p.Ser612=) c.1611C= (p.Ser537=) n.2329C= n.2343C= | |
2 | g.43877631C>G | CA346670900 | ABCG8 | c.1827C>G (p.Ser609Arg) c.1824C>G (p.Ser608Arg) c.1839C>G (p.Ser613Arg) c.1836C>G (p.Ser612Arg) c.1611C>G (p.Ser537Arg) n.2329C>G n.2343C>G | |
2 | g.43877631C>T | CA425908213 | ABCG8 | c.1827C>T (p.Ser609=) c.1824C>T (p.Ser608=) c.1839C>T (p.Ser613=) c.1836C>T (p.Ser612=) c.1611C>T (p.Ser537=) n.2329C>T n.2343C>T | dbSNP gnomAD v4 |
2 | g.43877631_43877634delinsCAGA | CA2493965041 | ABCG8 | c.1827_1830delinsCAGA (p.Ser609=) c.1824_1827delinsCAGA (p.Ser608=) c.1839_1842delinsCAGA (p.Ser613=) c.1836_1839delinsCAGA (p.Ser612=) c.1611_1614delinsCAGA (p.Ser537=) n.2329_2332delinsCAGA n.2343_2346delinsCAGA | |
2 | g.43877632A>C | CA425908214 | ABCG8 | c.1828A>C (p.Arg610=) c.1825A>C (p.Arg609=) c.1840A>C (p.Arg614=) c.1837A>C (p.Arg613=) c.1612A>C (p.Arg538=) n.2330A>C n.2344A>C | |
2 | g.43877632A>G | CA346670901 | ABCG8 | c.1828A>G (p.Arg610Gly) c.1825A>G (p.Arg609Gly) c.1840A>G (p.Arg614Gly) c.1837A>G (p.Arg613Gly) c.1612A>G (p.Arg538Gly) n.2330A>G n.2344A>G | |
2 | g.43877632A>T | CA346670902 | ABCG8 | c.1828A>T (p.Arg610Ter) c.1825A>T (p.Arg609Ter) c.1840A>T (p.Arg614Ter) c.1837A>T (p.Arg613Ter) c.1612A>T (p.Arg538Ter) n.2330A>T n.2344A>T | |
2 | g.43877636_43877638dup | CA2493965043 | ABCG8 | c.1832_1834dup (p.Arg611_Thr612insArg) c.1829_1831dup (p.Arg610_Thr611insArg) c.1844_1846dup (p.Arg615_Thr616insArg) c.1841_1843dup (p.Arg614_Thr615insArg) c.1616_1618dup (p.Arg539_Thr540insArg) n.2334_2336dup n.2348_2350dup | dbSNP |
2 | g.43877636_43877638del | CA1637675 | ABCG8 | c.1832_1834del (p.Arg611del) c.1829_1831del (p.Arg610del) c.1844_1846del (p.Arg615del) c.1841_1843del (p.Arg614del) c.1616_1618del (p.Arg539del) n.2334_2336del n.2348_2350del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.43877633G>A | CA346670903 | ABCG8 | c.1829G>A (p.Arg610Lys) c.1826G>A (p.Arg609Lys) c.1841G>A (p.Arg614Lys) c.1838G>A (p.Arg613Lys) c.1613G>A (p.Arg538Lys) n.2331G>A n.2345G>A | dbSNP |
2 | g.43877633G>C | CA346670904 | ABCG8 | c.1829G>C (p.Arg610Thr) c.1826G>C (p.Arg609Thr) c.1841G>C (p.Arg614Thr) c.1838G>C (p.Arg613Thr) c.1613G>C (p.Arg538Thr) n.2331G>C n.2345G>C | |
2 | g.43877633G= | CA2493965044 | ABCG8 | c.1829G= (p.Arg610=) c.1826G= (p.Arg609=) c.1841G= (p.Arg614=) c.1838G= (p.Arg613=) c.1613G= (p.Arg538=) n.2331G= n.2345G= | |
2 | g.43877633G>T | CA346670905 | ABCG8 | c.1829G>T (p.Arg610Ile) c.1826G>T (p.Arg609Ile) c.1841G>T (p.Arg614Ile) c.1838G>T (p.Arg613Ile) c.1613G>T (p.Arg538Ile) n.2331G>T n.2345G>T | |
2 | g.43877634A= | CA2493965045 | ABCG8 | c.1830A= (p.Arg610=) c.1827A= (p.Arg609=) c.1842A= (p.Arg614=) c.1839A= (p.Arg613=) c.1614A= (p.Arg538=) n.2332A= n.2346A= | |
2 | g.43877634A>C | CA346670906 | ABCG8 | c.1830A>C (p.Arg610Ser) c.1827A>C (p.Arg609Ser) c.1842A>C (p.Arg614Ser) c.1839A>C (p.Arg613Ser) c.1614A>C (p.Arg538Ser) n.2332A>C n.2346A>C | dbSNP |
2 | g.43877634A>G | CA425908215 | ABCG8 | c.1830A>G (p.Arg610=) c.1827A>G (p.Arg609=) c.1842A>G (p.Arg614=) c.1839A>G (p.Arg613=) c.1614A>G (p.Arg538=) n.2332A>G n.2346A>G | |
2 | g.43877634A>T | CA346670907 | ABCG8 | c.1830A>T (p.Arg610Ser) c.1827A>T (p.Arg609Ser) c.1842A>T (p.Arg614Ser) c.1839A>T (p.Arg613Ser) c.1614A>T (p.Arg538Ser) n.2332A>T n.2346A>T | gnomAD v4 |
2 | g.43877635A>C | CA425908216 | ABCG8 | c.1831A>C (p.Arg611=) c.1828A>C (p.Arg610=) c.1843A>C (p.Arg615=) c.1840A>C (p.Arg614=) c.1615A>C (p.Arg539=) n.2333A>C n.2347A>C | |
2 | g.43877635A>G | CA346670908 | ABCG8 | c.1831A>G (p.Arg611Gly) c.1828A>G (p.Arg610Gly) c.1843A>G (p.Arg615Gly) c.1840A>G (p.Arg614Gly) c.1615A>G (p.Arg539Gly) n.2333A>G n.2347A>G | |
2 | g.43877635A>T | CA346670909 | ABCG8 | c.1831A>T (p.Arg611Ter) c.1828A>T (p.Arg610Ter) c.1843A>T (p.Arg615Ter) c.1840A>T (p.Arg614Ter) c.1615A>T (p.Arg539Ter) n.2333A>T n.2347A>T | |
2 | g.43877636G>A | CA346670911 | ABCG8 | c.1832G>A (p.Arg611Lys) c.1829G>A (p.Arg610Lys) c.1844G>A (p.Arg615Lys) c.1841G>A (p.Arg614Lys) c.1616G>A (p.Arg539Lys) n.2334G>A n.2348G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.43877636G>C | CA46474244 | ABCG8 | c.1832G>C (p.Arg611Thr) c.1829G>C (p.Arg610Thr) c.1844G>C (p.Arg615Thr) c.1841G>C (p.Arg614Thr) c.1616G>C (p.Arg539Thr) n.2334G>C n.2348G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877636G= | CA2493965046 | ABCG8 | c.1832G= (p.Arg611=) c.1829G= (p.Arg610=) c.1844G= (p.Arg615=) c.1841G= (p.Arg614=) c.1616G= (p.Arg539=) n.2334G= n.2348G= | |
2 | g.43877636G>T | CA346670910 | ABCG8 | c.1832G>T (p.Arg611Ile) c.1829G>T (p.Arg610Ile) c.1844G>T (p.Arg615Ile) c.1841G>T (p.Arg614Ile) c.1616G>T (p.Arg539Ile) n.2334G>T n.2348G>T | COSMIC |
2 | g.43877637A= | CA2493965047 | ABCG8 | c.1833A= (p.Arg611=) c.1830A= (p.Arg610=) c.1845A= (p.Arg615=) c.1842A= (p.Arg614=) c.1617A= (p.Arg539=) n.2335A= n.2349A= | |
2 | g.43877637A>C | CA1637676 | ABCG8 | c.1833A>C (p.Arg611Ser) c.1830A>C (p.Arg610Ser) c.1845A>C (p.Arg615Ser) c.1842A>C (p.Arg614Ser) c.1617A>C (p.Arg539Ser) n.2335A>C n.2349A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877637A>G | CA425908217 | ABCG8 | c.1833A>G (p.Arg611=) c.1830A>G (p.Arg610=) c.1845A>G (p.Arg615=) c.1842A>G (p.Arg614=) c.1617A>G (p.Arg539=) n.2335A>G n.2349A>G | gnomAD v4 |
2 | g.43877637A>T | CA346670912 | ABCG8 | c.1833A>T (p.Arg611Ser) c.1830A>T (p.Arg610Ser) c.1845A>T (p.Arg615Ser) c.1842A>T (p.Arg614Ser) c.1617A>T (p.Arg539Ser) n.2335A>T n.2349A>T | |
2 | g.43877638A= | CA2493965048 | ABCG8 | c.1834A= (p.Thr612=) c.1831A= (p.Thr611=) c.1846A= (p.Thr616=) c.1843A= (p.Thr615=) c.1618A= (p.Thr540=) n.2336A= n.2350A= | |
2 | g.43877638A>C | CA346670914 | ABCG8 | c.1834A>C (p.Thr612Pro) c.1831A>C (p.Thr611Pro) c.1846A>C (p.Thr616Pro) c.1843A>C (p.Thr615Pro) c.1618A>C (p.Thr540Pro) n.2336A>C n.2350A>C | |
2 | g.43877638A>G | CA46474255 | ABCG8 | c.1834A>G (p.Thr612Ala) c.1831A>G (p.Thr611Ala) c.1846A>G (p.Thr616Ala) c.1843A>G (p.Thr615Ala) c.1618A>G (p.Thr540Ala) n.2336A>G n.2350A>G | dbSNP |
2 | g.43877638A>T | CA346670913 | ABCG8 | c.1834A>T (p.Thr612Ser) c.1831A>T (p.Thr611Ser) c.1846A>T (p.Thr616Ser) c.1843A>T (p.Thr615Ser) c.1618A>T (p.Thr540Ser) n.2336A>T n.2350A>T | |
2 | g.43877639C>A | CA346670915 | ABCG8 | c.1835C>A (p.Thr612Asn) c.1832C>A (p.Thr611Asn) c.1847C>A (p.Thr616Asn) c.1844C>A (p.Thr615Asn) c.1619C>A (p.Thr540Asn) n.2337C>A n.2351C>A | |
2 | g.43877639C>G | CA346670916 | ABCG8 | c.1835C>G (p.Thr612Ser) c.1832C>G (p.Thr611Ser) c.1847C>G (p.Thr616Ser) c.1844C>G (p.Thr615Ser) c.1619C>G (p.Thr540Ser) n.2337C>G n.2351C>G | |
2 | g.43877639C>T | CA346670917 | ABCG8 | c.1835C>T (p.Thr612Ile) c.1832C>T (p.Thr611Ile) c.1847C>T (p.Thr616Ile) c.1844C>T (p.Thr615Ile) c.1619C>T (p.Thr540Ile) n.2337C>T n.2351C>T | gnomAD v4 |
2 | g.43877640T>A | CA425908221 | ABCG8 | c.1836T>A (p.Thr612=) c.1833T>A (p.Thr611=) c.1848T>A (p.Thr616=) c.1845T>A (p.Thr615=) c.1620T>A (p.Thr540=) n.2338T>A n.2352T>A | |
2 | g.43877640T>C | CA425908222 | ABCG8 | c.1836T>C (p.Thr612=) c.1833T>C (p.Thr611=) c.1848T>C (p.Thr616=) c.1845T>C (p.Thr615=) c.1620T>C (p.Thr540=) n.2338T>C n.2352T>C | |
2 | g.43877640T>G | CA425908223 | ABCG8 | c.1836T>G (p.Thr612=) c.1833T>G (p.Thr611=) c.1848T>G (p.Thr616=) c.1845T>G (p.Thr615=) c.1620T>G (p.Thr540=) n.2338T>G n.2352T>G | |
2 | g.43877640_43877641dup | CA2658838072 | ABCG8 | c.1836_1837dup (p.Tyr613PhefsTer?) c.1833_1834dup (p.Tyr612PhefsTer?) c.1848_1849dup (p.Tyr617PhefsTer?) c.1845_1846dup (p.Tyr616PhefsTer?) c.1620_1621dup (p.Tyr541PhefsTer?) n.2338_2339dup n.2352_2353dup | gnomAD v4 |
2 | g.43877641T>A | CA346670919 | ABCG8 | c.1837T>A (p.Tyr613Asn) c.1834T>A (p.Tyr612Asn) c.1849T>A (p.Tyr617Asn) c.1846T>A (p.Tyr616Asn) c.1621T>A (p.Tyr541Asn) n.2339T>A n.2353T>A | gnomAD v4 |
2 | g.43877641T>C | CA1637677 | ABCG8 | c.1837T>C (p.Tyr613His) c.1834T>C (p.Tyr612His) c.1849T>C (p.Tyr617His) c.1846T>C (p.Tyr616His) c.1621T>C (p.Tyr541His) n.2339T>C n.2353T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.43877641T>G | CA346670918 | ABCG8 | c.1837T>G (p.Tyr613Asp) c.1834T>G (p.Tyr612Asp) c.1849T>G (p.Tyr617Asp) c.1846T>G (p.Tyr616Asp) c.1621T>G (p.Tyr541Asp) n.2339T>G n.2353T>G | |
2 | g.43877641T= | CA2493965049 | ABCG8 | c.1837T= (p.Tyr613=) c.1834T= (p.Tyr612=) c.1849T= (p.Tyr617=) c.1846T= (p.Tyr616=) c.1621T= (p.Tyr541=) n.2339T= n.2353T= | |
2 | g.43877642A>C | CA346670920 | ABCG8 | c.1838A>C (p.Tyr613Ser) c.1835A>C (p.Tyr612Ser) c.1850A>C (p.Tyr617Ser) c.1847A>C (p.Tyr616Ser) c.1622A>C (p.Tyr541Ser) n.2340A>C n.2354A>C | |
2 | g.43877642A>G | CA346670921 | ABCG8 | c.1838A>G (p.Tyr613Cys) c.1835A>G (p.Tyr612Cys) c.1850A>G (p.Tyr617Cys) c.1847A>G (p.Tyr616Cys) c.1622A>G (p.Tyr541Cys) n.2340A>G n.2354A>G | gnomAD v4 |
2 | g.43877642A>T | CA346670922 | ABCG8 | c.1838A>T (p.Tyr613Phe) c.1835A>T (p.Tyr612Phe) c.1850A>T (p.Tyr617Phe) c.1847A>T (p.Tyr616Phe) c.1622A>T (p.Tyr541Phe) n.2340A>T n.2354A>T | |
2 | g.43877643T>A | CA346670923 | ABCG8 | c.1839T>A (p.Tyr613Ter) c.1836T>A (p.Tyr612Ter) c.1851T>A (p.Tyr617Ter) c.1848T>A (p.Tyr616Ter) c.1623T>A (p.Tyr541Ter) n.2341T>A n.2355T>A | |
2 | g.43877643T>C | CA1637678 | ABCG8 | c.1839T>C (p.Tyr613=) c.1836T>C (p.Tyr612=) c.1851T>C (p.Tyr617=) c.1848T>C (p.Tyr616=) c.1623T>C (p.Tyr541=) n.2341T>C n.2355T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877643T>G | CA346670924 | ABCG8 | c.1839T>G (p.Tyr613Ter) c.1836T>G (p.Tyr612Ter) c.1851T>G (p.Tyr617Ter) c.1848T>G (p.Tyr616Ter) c.1623T>G (p.Tyr541Ter) n.2341T>G n.2355T>G | |
2 | g.43877643T= | CA2493965050 | ABCG8 | c.1839T= (p.Tyr613=) c.1836T= (p.Tyr612=) c.1851T= (p.Tyr617=) c.1848T= (p.Tyr616=) c.1623T= (p.Tyr541=) n.2341T= n.2355T= | |
2 | g.43877644A= | CA2493965051 | ABCG8 | c.1840A= (p.Lys614=) c.1837A= (p.Lys613=) c.1852A= (p.Lys618=) c.1849A= (p.Lys617=) c.1624A= (p.Lys542=) n.2342A= n.2356A= | |
2 | g.43877644A>C | CA346670926 | ABCG8 | c.1840A>C (p.Lys614Gln) c.1837A>C (p.Lys613Gln) c.1852A>C (p.Lys618Gln) c.1849A>C (p.Lys617Gln) c.1624A>C (p.Lys542Gln) n.2342A>C n.2356A>C | |
2 | g.43877644A>G | CA1637679 | ABCG8 | c.1840A>G (p.Lys614Glu) c.1837A>G (p.Lys613Glu) c.1852A>G (p.Lys618Glu) c.1849A>G (p.Lys617Glu) c.1624A>G (p.Lys542Glu) n.2342A>G n.2356A>G | dbSNP ExAC gnomAD v2 |
2 | g.43877644A>T | CA346670925 | ABCG8 | c.1840A>T (p.Lys614Ter) c.1837A>T (p.Lys613Ter) c.1852A>T (p.Lys618Ter) c.1849A>T (p.Lys617Ter) c.1624A>T (p.Lys542Ter) n.2342A>T n.2356A>T | |
2 | g.43877645A>C | CA346670927 | ABCG8 | c.1841A>C (p.Lys614Thr) c.1838A>C (p.Lys613Thr) c.1853A>C (p.Lys618Thr) c.1850A>C (p.Lys617Thr) c.1625A>C (p.Lys542Thr) n.2343A>C n.2357A>C | gnomAD v4 |
2 | g.43877645A>G | CA346670928 | ABCG8 | c.1841A>G (p.Lys614Arg) c.1838A>G (p.Lys613Arg) c.1853A>G (p.Lys618Arg) c.1850A>G (p.Lys617Arg) c.1625A>G (p.Lys542Arg) n.2343A>G n.2357A>G | |
2 | g.43877645A>T | CA346670929 | ABCG8 | c.1841A>T (p.Lys614Ile) c.1838A>T (p.Lys613Ile) c.1853A>T (p.Lys618Ile) c.1850A>T (p.Lys617Ile) c.1625A>T (p.Lys542Ile) n.2343A>T n.2357A>T | |
2 | g.43877646A= | CA2493965052 | ABCG8 | c.1842A= (p.Lys614=) c.1839A= (p.Lys613=) c.1854A= (p.Lys618=) c.1851A= (p.Lys617=) c.1626A= (p.Lys542=) n.2344A= n.2358A= | |
2 | g.43877646A>C | CA346670930 | ABCG8 | c.1842A>C (p.Lys614Asn) c.1839A>C (p.Lys613Asn) c.1854A>C (p.Lys618Asn) c.1851A>C (p.Lys617Asn) c.1626A>C (p.Lys542Asn) n.2344A>C n.2358A>C | |
2 | g.43877646A>G | CA1637680 | ABCG8 | c.1842A>G (p.Lys614=) c.1839A>G (p.Lys613=) c.1854A>G (p.Lys618=) c.1851A>G (p.Lys617=) c.1626A>G (p.Lys542=) n.2344A>G n.2358A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877646A>T | CA346670931 | ABCG8 | c.1842A>T (p.Lys614Asn) c.1839A>T (p.Lys613Asn) c.1854A>T (p.Lys618Asn) c.1851A>T (p.Lys617Asn) c.1626A>T (p.Lys542Asn) n.2344A>T n.2358A>T | |
2 | g.43877648_43877692del | CA2586969038 | ABCG8 | c.1844_1884+4del c.1841_1881+4del c.1856_1896+4del c.1853_1893+4del c.1628_1668+4del n.2346_2386+4del n.2360_2400+4del | |
2 | g.43877647A>C | CA346670932 | ABCG8 | c.1843A>C (p.Met615Leu) c.1840A>C (p.Met614Leu) c.1855A>C (p.Met619Leu) c.1852A>C (p.Met618Leu) c.1627A>C (p.Met543Leu) n.2345A>C n.2359A>C | |
2 | g.43877647A>G | CA346670933 | ABCG8 | c.1843A>G (p.Met615Val) c.1840A>G (p.Met614Val) c.1855A>G (p.Met619Val) c.1852A>G (p.Met618Val) c.1627A>G (p.Met543Val) n.2345A>G n.2359A>G | |
2 | g.43877647A>T | CA346670934 | ABCG8 | c.1843A>T (p.Met615Leu) c.1840A>T (p.Met614Leu) c.1855A>T (p.Met619Leu) c.1852A>T (p.Met618Leu) c.1627A>T (p.Met543Leu) n.2345A>T n.2359A>T | |
2 | g.43877648T>A | CA346670935 | ABCG8 | c.1844T>A (p.Met615Lys) c.1841T>A (p.Met614Lys) c.1856T>A (p.Met619Lys) c.1853T>A (p.Met618Lys) c.1628T>A (p.Met543Lys) n.2346T>A n.2360T>A | |
2 | g.43877648T>C | CA346670936 | ABCG8 | c.1844T>C (p.Met615Thr) c.1841T>C (p.Met614Thr) c.1856T>C (p.Met619Thr) c.1853T>C (p.Met618Thr) c.1628T>C (p.Met543Thr) n.2346T>C n.2360T>C | |
2 | g.43877648T>G | CA346670937 | ABCG8 | c.1844T>G (p.Met615Arg) c.1841T>G (p.Met614Arg) c.1856T>G (p.Met619Arg) c.1853T>G (p.Met618Arg) c.1628T>G (p.Met543Arg) n.2346T>G n.2360T>G | |
2 | g.43877649G>A | CA346670938 | ABCG8 | c.1845G>A (p.Met615Ile) c.1842G>A (p.Met614Ile) c.1857G>A (p.Met619Ile) c.1854G>A (p.Met618Ile) c.1629G>A (p.Met543Ile) n.2347G>A n.2361G>A | gnomAD v4 |
2 | g.43877649G>C | CA1637681 | ABCG8 | c.1845G>C (p.Met615Ile) c.1842G>C (p.Met614Ile) c.1857G>C (p.Met619Ile) c.1854G>C (p.Met618Ile) c.1629G>C (p.Met543Ile) n.2347G>C n.2361G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877649G= | CA2493965053 | ABCG8 | c.1845G= (p.Met615=) c.1842G= (p.Met614=) c.1857G= (p.Met619=) c.1854G= (p.Met618=) c.1629G= (p.Met543=) n.2347G= n.2361G= | |
2 | g.43877649G>T | CA346670939 | ABCG8 | c.1845G>T (p.Met615Ile) c.1842G>T (p.Met614Ile) c.1857G>T (p.Met619Ile) c.1854G>T (p.Met618Ile) c.1629G>T (p.Met543Ile) n.2347G>T n.2361G>T | |
2 | g.43877650C>A | CA346670940 | ABCG8 | c.1846C>A (p.Pro616Thr) c.1843C>A (p.Pro615Thr) c.1858C>A (p.Pro620Thr) c.1855C>A (p.Pro619Thr) c.1630C>A (p.Pro544Thr) n.2348C>A n.2362C>A | |
2 | g.43877650C= | CA2493965054 | ABCG8 | c.1846C= (p.Pro616=) c.1843C= (p.Pro615=) c.1858C= (p.Pro620=) c.1855C= (p.Pro619=) c.1630C= (p.Pro544=) n.2348C= n.2362C= | |
2 | g.43877650C>G | CA346670941 | ABCG8 | c.1846C>G (p.Pro616Ala) c.1843C>G (p.Pro615Ala) c.1858C>G (p.Pro620Ala) c.1855C>G (p.Pro619Ala) c.1630C>G (p.Pro544Ala) n.2348C>G n.2362C>G | |
2 | g.43877650C>T | CA1637682 | ABCG8 | c.1846C>T (p.Pro616Ser) c.1843C>T (p.Pro615Ser) c.1858C>T (p.Pro620Ser) c.1855C>T (p.Pro619Ser) c.1630C>T (p.Pro544Ser) n.2348C>T n.2362C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877651C>A | CA346670942 | ABCG8 | c.1847C>A (p.Pro616His) c.1844C>A (p.Pro615His) c.1859C>A (p.Pro620His) c.1856C>A (p.Pro619His) c.1631C>A (p.Pro544His) n.2349C>A n.2363C>A | |
2 | g.43877651C= | CA2493965055 | ABCG8 | c.1847C= (p.Pro616=) c.1844C= (p.Pro615=) c.1859C= (p.Pro620=) c.1856C= (p.Pro619=) c.1631C= (p.Pro544=) n.2349C= n.2363C= | |
2 | g.43877651C>G | CA346670943 | ABCG8 | c.1847C>G (p.Pro616Arg) c.1844C>G (p.Pro615Arg) c.1859C>G (p.Pro620Arg) c.1856C>G (p.Pro619Arg) c.1631C>G (p.Pro544Arg) n.2349C>G n.2363C>G | |
2 | g.43877651C>T | CA346670944 | ABCG8 | c.1847C>T (p.Pro616Leu) c.1844C>T (p.Pro615Leu) c.1859C>T (p.Pro620Leu) c.1856C>T (p.Pro619Leu) c.1631C>T (p.Pro544Leu) n.2349C>T n.2363C>T | dbSNP |
2 | g.43877652T>A | CA425908232 | ABCG8 | c.1848T>A (p.Pro616=) c.1845T>A (p.Pro615=) c.1860T>A (p.Pro620=) c.1857T>A (p.Pro619=) c.1632T>A (p.Pro544=) n.2350T>A n.2364T>A | |
2 | g.43877652T>C | CA425908233 | ABCG8 | c.1848T>C (p.Pro616=) c.1845T>C (p.Pro615=) c.1860T>C (p.Pro620=) c.1857T>C (p.Pro619=) c.1632T>C (p.Pro544=) n.2350T>C n.2364T>C | |
2 | g.43877652T>G | CA425908234 | ABCG8 | c.1848T>G (p.Pro616=) c.1845T>G (p.Pro615=) c.1860T>G (p.Pro620=) c.1857T>G (p.Pro619=) c.1632T>G (p.Pro544=) n.2350T>G n.2364T>G | |
2 | g.43877653C>A | CA346670945 | ABCG8 | c.1849C>A (p.Leu617Ile) c.1846C>A (p.Leu616Ile) c.1861C>A (p.Leu621Ile) c.1858C>A (p.Leu620Ile) c.1633C>A (p.Leu545Ile) n.2351C>A n.2365C>A | |
2 | g.43877653C= | CA2493965056 | ABCG8 | c.1849C= (p.Leu617=) c.1846C= (p.Leu616=) c.1861C= (p.Leu621=) c.1858C= (p.Leu620=) c.1633C= (p.Leu545=) n.2351C= n.2365C= | |
2 | g.43877653C>G | CA346670946 | ABCG8 | c.1849C>G (p.Leu617Val) c.1846C>G (p.Leu616Val) c.1861C>G (p.Leu621Val) c.1858C>G (p.Leu620Val) c.1633C>G (p.Leu545Val) n.2351C>G n.2365C>G | dbSNP gnomAD v4 |
2 | g.43877653C>T | CA346670947 | ABCG8 | c.1849C>T (p.Leu617Phe) c.1846C>T (p.Leu616Phe) c.1861C>T (p.Leu621Phe) c.1858C>T (p.Leu620Phe) c.1633C>T (p.Leu545Phe) n.2351C>T n.2365C>T | |
2 | g.43877654T>A | CA346670948 | ABCG8 | c.1850T>A (p.Leu617His) c.1847T>A (p.Leu616His) c.1862T>A (p.Leu621His) c.1859T>A (p.Leu620His) c.1634T>A (p.Leu545His) n.2352T>A n.2366T>A | |
2 | g.43877654T>C | CA346670949 | ABCG8 | c.1850T>C (p.Leu617Pro) c.1847T>C (p.Leu616Pro) c.1862T>C (p.Leu621Pro) c.1859T>C (p.Leu620Pro) c.1634T>C (p.Leu545Pro) n.2352T>C n.2366T>C | |
2 | g.43877654T>G | CA346670950 | ABCG8 | c.1850T>G (p.Leu617Arg) c.1847T>G (p.Leu616Arg) c.1862T>G (p.Leu621Arg) c.1859T>G (p.Leu620Arg) c.1634T>G (p.Leu545Arg) n.2352T>G n.2366T>G | |
2 | g.43877655C>A | CA425908236 | ABCG8 | c.1851C>A (p.Leu617=) c.1848C>A (p.Leu616=) c.1863C>A (p.Leu621=) c.1860C>A (p.Leu620=) c.1635C>A (p.Leu545=) n.2353C>A n.2367C>A | |
2 | g.43877655C= | CA2493965057 | ABCG8 | c.1851C= (p.Leu617=) c.1848C= (p.Leu616=) c.1863C= (p.Leu621=) c.1860C= (p.Leu620=) c.1635C= (p.Leu545=) n.2353C= n.2367C= | |
2 | g.43877655C>G | CA425908238 | ABCG8 | c.1851C>G (p.Leu617=) c.1848C>G (p.Leu616=) c.1863C>G (p.Leu621=) c.1860C>G (p.Leu620=) c.1635C>G (p.Leu545=) n.2353C>G n.2367C>G | dbSNP gnomAD v4 |
2 | g.43877655C>T | CA425908239 | ABCG8 | c.1851C>T (p.Leu617=) c.1848C>T (p.Leu616=) c.1863C>T (p.Leu621=) c.1860C>T (p.Leu620=) c.1635C>T (p.Leu545=) n.2353C>T n.2367C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.43877656G>A | CA46474316 | ABCG8 | c.1852G>A (p.Gly618Arg) c.1849G>A (p.Gly617Arg) c.1864G>A (p.Gly622Arg) c.1861G>A (p.Gly621Arg) c.1636G>A (p.Gly546Arg) n.2354G>A n.2368G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.43877656G>C | CA346670951 | ABCG8 | c.1852G>C (p.Gly618Arg) c.1849G>C (p.Gly617Arg) c.1864G>C (p.Gly622Arg) c.1861G>C (p.Gly621Arg) c.1636G>C (p.Gly546Arg) n.2354G>C n.2368G>C | ClinVar dbSNP gnomAD v4 |
2 | g.43877656G= | CA2493965058 | ABCG8 | c.1852G= (p.Gly618=) c.1849G= (p.Gly617=) c.1864G= (p.Gly622=) c.1861G= (p.Gly621=) c.1636G= (p.Gly546=) n.2354G= n.2368G= | |
2 | g.43877656G>T | CA346670952 | ABCG8 | c.1852G>T (p.Gly618Trp) c.1849G>T (p.Gly617Trp) c.1864G>T (p.Gly622Trp) c.1861G>T (p.Gly621Trp) c.1636G>T (p.Gly546Trp) n.2354G>T n.2368G>T | |
2 | g.43877657G>A | CA346670953 | ABCG8 | c.1853G>A (p.Gly618Glu) c.1850G>A (p.Gly617Glu) c.1865G>A (p.Gly622Glu) c.1862G>A (p.Gly621Glu) c.1637G>A (p.Gly546Glu) n.2355G>A n.2369G>A | COSMIC |
2 | g.43877657G>C | CA346670954 | ABCG8 | c.1853G>C (p.Gly618Ala) c.1850G>C (p.Gly617Ala) c.1865G>C (p.Gly622Ala) c.1862G>C (p.Gly621Ala) c.1637G>C (p.Gly546Ala) n.2355G>C n.2369G>C | gnomAD v4 |
2 | g.43877657G>T | CA346670955 | ABCG8 | c.1853G>T (p.Gly618Val) c.1850G>T (p.Gly617Val) c.1865G>T (p.Gly622Val) c.1862G>T (p.Gly621Val) c.1637G>T (p.Gly546Val) n.2355G>T n.2369G>T | |
2 | g.43877658G>A | CA425908241 | ABCG8 | c.1854G>A (p.Gly618=) c.1851G>A (p.Gly617=) c.1866G>A (p.Gly622=) c.1863G>A (p.Gly621=) c.1638G>A (p.Gly546=) n.2356G>A n.2370G>A | |
2 | g.43877658G>C | CA425908242 | ABCG8 | c.1854G>C (p.Gly618=) c.1851G>C (p.Gly617=) c.1866G>C (p.Gly622=) c.1863G>C (p.Gly621=) c.1638G>C (p.Gly546=) n.2356G>C n.2370G>C | gnomAD v4 |
2 | g.43877658G>T | CA425908243 | ABCG8 | c.1854G>T (p.Gly618=) c.1851G>T (p.Gly617=) c.1866G>T (p.Gly622=) c.1863G>T (p.Gly621=) c.1638G>T (p.Gly546=) n.2356G>T n.2370G>T | gnomAD v4 |
2 | g.43877659A>C | CA346670956 | ABCG8 | c.1855A>C (p.Asn619His) c.1852A>C (p.Asn618His) c.1867A>C (p.Asn623His) c.1864A>C (p.Asn622His) c.1639A>C (p.Asn547His) n.2357A>C n.2371A>C | |
2 | g.43877659A>G | CA346670957 | ABCG8 | c.1855A>G (p.Asn619Asp) c.1852A>G (p.Asn618Asp) c.1867A>G (p.Asn623Asp) c.1864A>G (p.Asn622Asp) c.1639A>G (p.Asn547Asp) n.2357A>G n.2371A>G | |
2 | g.43877659A>T | CA346670958 | ABCG8 | c.1855A>T (p.Asn619Tyr) c.1852A>T (p.Asn618Tyr) c.1867A>T (p.Asn623Tyr) c.1864A>T (p.Asn622Tyr) c.1639A>T (p.Asn547Tyr) n.2357A>T n.2371A>T | |
2 | g.43877660A>C | CA346670959 | ABCG8 | c.1856A>C (p.Asn619Thr) c.1853A>C (p.Asn618Thr) c.1868A>C (p.Asn623Thr) c.1865A>C (p.Asn622Thr) c.1640A>C (p.Asn547Thr) n.2358A>C n.2372A>C | |
2 | g.43877660A>G | CA346670960 | ABCG8 | c.1856A>G (p.Asn619Ser) c.1853A>G (p.Asn618Ser) c.1868A>G (p.Asn623Ser) c.1865A>G (p.Asn622Ser) c.1640A>G (p.Asn547Ser) n.2358A>G n.2372A>G | |
2 | g.43877660A>T | CA346670961 | ABCG8 | c.1856A>T (p.Asn619Ile) c.1853A>T (p.Asn618Ile) c.1868A>T (p.Asn623Ile) c.1865A>T (p.Asn622Ile) c.1640A>T (p.Asn547Ile) n.2358A>T n.2372A>T | |
2 | g.43877661C>A | CA346670962 | ABCG8 | c.1857C>A (p.Asn619Lys) c.1854C>A (p.Asn618Lys) c.1869C>A (p.Asn623Lys) c.1866C>A (p.Asn622Lys) c.1641C>A (p.Asn547Lys) n.2359C>A n.2373C>A | gnomAD v4 |
2 | g.43877661C>G | CA346670963 | ABCG8 | c.1857C>G (p.Asn619Lys) c.1854C>G (p.Asn618Lys) c.1869C>G (p.Asn623Lys) c.1866C>G (p.Asn622Lys) c.1641C>G (p.Asn547Lys) n.2359C>G n.2373C>G | |
2 | g.43877661C>T | CA425908247 | ABCG8 | c.1857C>T (p.Asn619=) c.1854C>T (p.Asn618=) c.1869C>T (p.Asn623=) c.1866C>T (p.Asn622=) c.1641C>T (p.Asn547=) n.2359C>T n.2373C>T | |
2 | g.43877662C>A | CA1637684 | ABCG8 | c.1858C>A (p.Leu620Ile) c.1855C>A (p.Leu619Ile) c.1870C>A (p.Leu624Ile) c.1867C>A (p.Leu623Ile) c.1642C>A (p.Leu548Ile) n.2360C>A n.2374C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.43877662C= | CA2493965059 | ABCG8 | c.1858C= (p.Leu620=) c.1855C= (p.Leu619=) c.1870C= (p.Leu624=) c.1867C= (p.Leu623=) c.1642C= (p.Leu548=) n.2360C= n.2374C= | |
2 | g.43877662C>G | CA346670964 | ABCG8 | c.1858C>G (p.Leu620Val) c.1855C>G (p.Leu619Val) c.1870C>G (p.Leu624Val) c.1867C>G (p.Leu623Val) c.1642C>G (p.Leu548Val) n.2360C>G n.2374C>G | |
2 | g.43877662C>T | CA1637683 | ABCG8 | c.1858C>T (p.Leu620Phe) c.1855C>T (p.Leu619Phe) c.1870C>T (p.Leu624Phe) c.1867C>T (p.Leu623Phe) c.1642C>T (p.Leu548Phe) n.2360C>T n.2374C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.43877663T>A | CA346670965 | ABCG8 | c.1859T>A (p.Leu620His) c.1856T>A (p.Leu619His) c.1871T>A (p.Leu624His) c.1868T>A (p.Leu623His) c.1643T>A (p.Leu548His) n.2361T>A n.2375T>A | |
2 | g.43877663T>C | CA346670966 | ABCG8 | c.1859T>C (p.Leu620Pro) c.1856T>C (p.Leu619Pro) c.1871T>C (p.Leu624Pro) c.1868T>C (p.Leu623Pro) c.1643T>C (p.Leu548Pro) n.2361T>C n.2375T>C | |
2 | g.43877663T>G | CA346670967 | ABCG8 | c.1859T>G (p.Leu620Arg) c.1856T>G (p.Leu619Arg) c.1871T>G (p.Leu624Arg) c.1868T>G (p.Leu623Arg) c.1643T>G (p.Leu548Arg) n.2361T>G n.2375T>G | gnomAD v4 |
2 | g.43877664C>A | CA425908248 | ABCG8 | c.1860C>A (p.Leu620=) c.1857C>A (p.Leu619=) c.1872C>A (p.Leu624=) c.1869C>A (p.Leu623=) c.1644C>A (p.Leu548=) n.2362C>A n.2376C>A | |
2 | g.43877664C>G | CA425908250 | ABCG8 | c.1860C>G (p.Leu620=) c.1857C>G (p.Leu619=) c.1872C>G (p.Leu624=) c.1869C>G (p.Leu623=) c.1644C>G (p.Leu548=) n.2362C>G n.2376C>G | gnomAD v4 |
2 | g.43877664C>T | CA425908251 | ABCG8 | c.1860C>T (p.Leu620=) c.1857C>T (p.Leu619=) c.1872C>T (p.Leu624=) c.1869C>T (p.Leu623=) c.1644C>T (p.Leu548=) n.2362C>T n.2376C>T | ClinVar dbSNP gnomAD v4 |
2 | g.43877665A>C | CA346670968 | ABCG8 | c.1861A>C (p.Thr621Pro) c.1858A>C (p.Thr620Pro) c.1873A>C (p.Thr625Pro) c.1870A>C (p.Thr624Pro) c.1645A>C (p.Thr549Pro) n.2363A>C n.2377A>C | |
2 | g.43877665A>G | CA346670969 | ABCG8 | c.1861A>G (p.Thr621Ala) c.1858A>G (p.Thr620Ala) c.1873A>G (p.Thr625Ala) c.1870A>G (p.Thr624Ala) c.1645A>G (p.Thr549Ala) n.2363A>G n.2377A>G | |
2 | g.43877665A>T | CA346670970 | ABCG8 | c.1861A>T (p.Thr621Ser) c.1858A>T (p.Thr620Ser) c.1873A>T (p.Thr625Ser) c.1870A>T (p.Thr624Ser) c.1645A>T (p.Thr549Ser) n.2363A>T n.2377A>T | |
2 | g.43877666C>A | CA346670971 | ABCG8 | c.1862C>A (p.Thr621Asn) c.1859C>A (p.Thr620Asn) c.1874C>A (p.Thr625Asn) c.1871C>A (p.Thr624Asn) c.1646C>A (p.Thr549Asn) n.2364C>A n.2378C>A | gnomAD v4 |
2 | g.43877666C>G | CA346670972 | ABCG8 | c.1862C>G (p.Thr621Ser) c.1859C>G (p.Thr620Ser) c.1874C>G (p.Thr625Ser) c.1871C>G (p.Thr624Ser) c.1646C>G (p.Thr549Ser) n.2364C>G n.2378C>G | |
2 | g.43877666C>T | CA346670973 | ABCG8 | c.1862C>T (p.Thr621Ile) c.1859C>T (p.Thr620Ile) c.1874C>T (p.Thr625Ile) c.1871C>T (p.Thr624Ile) c.1646C>T (p.Thr549Ile) n.2364C>T n.2378C>T | |
2 | g.43877667C>A | CA425908252 | ABCG8 | c.1863C>A (p.Thr621=) c.1860C>A (p.Thr620=) c.1875C>A (p.Thr625=) c.1872C>A (p.Thr624=) c.1647C>A (p.Thr549=) n.2365C>A n.2379C>A | |
2 | g.43877667C>G | CA425908255 | ABCG8 | c.1863C>G (p.Thr621=) c.1860C>G (p.Thr620=) c.1875C>G (p.Thr625=) c.1872C>G (p.Thr624=) c.1647C>G (p.Thr549=) n.2365C>G n.2379C>G | |
2 | g.43877667C>T | CA425908253 | ABCG8 | c.1863C>T (p.Thr621=) c.1860C>T (p.Thr620=) c.1875C>T (p.Thr625=) c.1872C>T (p.Thr624=) c.1647C>T (p.Thr549=) n.2365C>T n.2379C>T | |
2 | g.43877668A>C | CA346670974 | ABCG8 | c.1864A>C (p.Ile622Leu) c.1861A>C (p.Ile621Leu) c.1876A>C (p.Ile626Leu) c.1873A>C (p.Ile625Leu) c.1648A>C (p.Ile550Leu) n.2366A>C n.2380A>C | |
2 | g.43877668A>G | CA346670975 | ABCG8 | c.1864A>G (p.Ile622Val) c.1861A>G (p.Ile621Val) c.1876A>G (p.Ile626Val) c.1873A>G (p.Ile625Val) c.1648A>G (p.Ile550Val) n.2366A>G n.2380A>G | |
2 | g.43877668A>T | CA346670976 | ABCG8 | c.1864A>T (p.Ile622Phe) c.1861A>T (p.Ile621Phe) c.1876A>T (p.Ile626Phe) c.1873A>T (p.Ile625Phe) c.1648A>T (p.Ile550Phe) n.2366A>T n.2380A>T | |
2 | g.43877669T>A | CA346670977 | ABCG8 | c.1865T>A (p.Ile622Asn) c.1862T>A (p.Ile621Asn) c.1877T>A (p.Ile626Asn) c.1874T>A (p.Ile625Asn) c.1649T>A (p.Ile550Asn) n.2367T>A n.2381T>A | |
2 | g.43877669T>C | CA1637685 | ABCG8 | c.1865T>C (p.Ile622Thr) c.1862T>C (p.Ile621Thr) c.1877T>C (p.Ile626Thr) c.1874T>C (p.Ile625Thr) c.1649T>C (p.Ile550Thr) n.2367T>C n.2381T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877669T>G | CA346670978 | ABCG8 | c.1865T>G (p.Ile622Ser) c.1862T>G (p.Ile621Ser) c.1877T>G (p.Ile626Ser) c.1874T>G (p.Ile625Ser) c.1649T>G (p.Ile550Ser) n.2367T>G n.2381T>G | |
2 | g.43877669T= | CA2493965060 | ABCG8 | c.1865T= (p.Ile622=) c.1862T= (p.Ile621=) c.1877T= (p.Ile626=) c.1874T= (p.Ile625=) c.1649T= (p.Ile550=) n.2367T= n.2381T= | |
2 | g.43877670C>A | CA425908257 | ABCG8 | c.1866C>A (p.Ile622=) c.1863C>A (p.Ile621=) c.1878C>A (p.Ile626=) c.1875C>A (p.Ile625=) c.1650C>A (p.Ile550=) n.2368C>A n.2382C>A | ClinVar dbSNP gnomAD v4 |
2 | g.43877670C= | CA2493965061 | ABCG8 | c.1866C= (p.Ile622=) c.1863C= (p.Ile621=) c.1878C= (p.Ile626=) c.1875C= (p.Ile625=) c.1650C= (p.Ile550=) n.2368C= n.2382C= | |
2 | g.43877670C>G | CA346670979 | ABCG8 | c.1866C>G (p.Ile622Met) c.1863C>G (p.Ile621Met) c.1878C>G (p.Ile626Met) c.1875C>G (p.Ile625Met) c.1650C>G (p.Ile550Met) n.2368C>G n.2382C>G | |
2 | g.43877670C>T | CA425908258 | ABCG8 | c.1866C>T (p.Ile622=) c.1863C>T (p.Ile621=) c.1878C>T (p.Ile626=) c.1875C>T (p.Ile625=) c.1650C>T (p.Ile550=) n.2368C>T n.2382C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877671G>A | CA1637686 | ABCG8 | c.1867G>A (p.Ala623Thr) c.1864G>A (p.Ala622Thr) c.1879G>A (p.Ala627Thr) c.1876G>A (p.Ala626Thr) c.1651G>A (p.Ala551Thr) n.2369G>A n.2383G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877671G>C | CA346670980 | ABCG8 | c.1867G>C (p.Ala623Pro) c.1864G>C (p.Ala622Pro) c.1879G>C (p.Ala627Pro) c.1876G>C (p.Ala626Pro) c.1651G>C (p.Ala551Pro) n.2369G>C n.2383G>C | |
2 | g.43877671G= | CA2493965062 | ABCG8 | c.1867G= (p.Ala623=) c.1864G= (p.Ala622=) c.1879G= (p.Ala627=) c.1876G= (p.Ala626=) c.1651G= (p.Ala551=) n.2369G= n.2383G= | |
2 | g.43877671G>T | CA346670981 | ABCG8 | c.1867G>T (p.Ala623Ser) c.1864G>T (p.Ala622Ser) c.1879G>T (p.Ala627Ser) c.1876G>T (p.Ala626Ser) c.1651G>T (p.Ala551Ser) n.2369G>T n.2383G>T | |
2 | g.43877672C>A | CA346670982 | ABCG8 | c.1868C>A (p.Ala623Glu) c.1865C>A (p.Ala622Glu) c.1880C>A (p.Ala627Glu) c.1877C>A (p.Ala626Glu) c.1652C>A (p.Ala551Glu) n.2370C>A n.2384C>A | dbSNP COSMIC |
2 | g.43877672C= | CA2493965063 | ABCG8 | c.1868C= (p.Ala623=) c.1865C= (p.Ala622=) c.1880C= (p.Ala627=) c.1877C= (p.Ala626=) c.1652C= (p.Ala551=) n.2370C= n.2384C= | |
2 | g.43877672C>G | CA346670983 | ABCG8 | c.1868C>G (p.Ala623Gly) c.1865C>G (p.Ala622Gly) c.1880C>G (p.Ala627Gly) c.1877C>G (p.Ala626Gly) c.1652C>G (p.Ala551Gly) n.2370C>G n.2384C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877672C>T | CA1637687 | ABCG8 | c.1868C>T (p.Ala623Val) c.1865C>T (p.Ala622Val) c.1880C>T (p.Ala627Val) c.1877C>T (p.Ala626Val) c.1652C>T (p.Ala551Val) n.2370C>T n.2384C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877673G>A | CA425908260 | ABCG8 | c.1869G>A (p.Ala623=) c.1866G>A (p.Ala622=) c.1881G>A (p.Ala627=) c.1878G>A (p.Ala626=) c.1653G>A (p.Ala551=) n.2371G>A n.2385G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.43877673G>C | CA425908261 | ABCG8 | c.1869G>C (p.Ala623=) c.1866G>C (p.Ala622=) c.1881G>C (p.Ala627=) c.1878G>C (p.Ala626=) c.1653G>C (p.Ala551=) n.2371G>C n.2385G>C | COSMIC |
2 | g.43877673G= | CA2493965064 | ABCG8 | c.1869G= (p.Ala623=) c.1866G= (p.Ala622=) c.1881G= (p.Ala627=) c.1878G= (p.Ala626=) c.1653G= (p.Ala551=) n.2371G= n.2385G= | |
2 | g.43877673G>T | CA1637688 | ABCG8 | c.1869G>T (p.Ala623=) c.1866G>T (p.Ala622=) c.1881G>T (p.Ala627=) c.1878G>T (p.Ala626=) c.1653G>T (p.Ala551=) n.2371G>T n.2385G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877674G>A | CA346670984 | ABCG8 | c.1870G>A (p.Val624Ile) c.1867G>A (p.Val623Ile) c.1882G>A (p.Val628Ile) c.1879G>A (p.Val627Ile) c.1654G>A (p.Val552Ile) n.2372G>A n.2386G>A | |
2 | g.43877674G>C | CA346670985 | ABCG8 | c.1870G>C (p.Val624Leu) c.1867G>C (p.Val623Leu) c.1882G>C (p.Val628Leu) c.1879G>C (p.Val627Leu) c.1654G>C (p.Val552Leu) n.2372G>C n.2386G>C | |
2 | g.43877674G>T | CA346670986 | ABCG8 | c.1870G>T (p.Val624Phe) c.1867G>T (p.Val623Phe) c.1882G>T (p.Val628Phe) c.1879G>T (p.Val627Phe) c.1654G>T (p.Val552Phe) n.2372G>T n.2386G>T | |
2 | g.43877675T>A | CA346670987 | ABCG8 | c.1871T>A (p.Val624Asp) c.1868T>A (p.Val623Asp) c.1883T>A (p.Val628Asp) c.1880T>A (p.Val627Asp) c.1655T>A (p.Val552Asp) n.2373T>A n.2387T>A | |
2 | g.43877675T>C | CA346670988 | ABCG8 | c.1871T>C (p.Val624Ala) c.1868T>C (p.Val623Ala) c.1883T>C (p.Val628Ala) c.1880T>C (p.Val627Ala) c.1655T>C (p.Val552Ala) n.2373T>C n.2387T>C | dbSNP |
2 | g.43877675T>G | CA346670989 | ABCG8 | c.1871T>G (p.Val624Gly) c.1868T>G (p.Val623Gly) c.1883T>G (p.Val628Gly) c.1880T>G (p.Val627Gly) c.1655T>G (p.Val552Gly) n.2373T>G n.2387T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877675T= | CA2493965065 | ABCG8 | c.1871T= (p.Val624=) c.1868T= (p.Val623=) c.1883T= (p.Val628=) c.1880T= (p.Val627=) c.1655T= (p.Val552=) n.2373T= n.2387T= | |
2 | g.43877676C>A | CA425908262 | ABCG8 | c.1872C>A (p.Val624=) c.1869C>A (p.Val623=) c.1884C>A (p.Val628=) c.1881C>A (p.Val627=) c.1656C>A (p.Val552=) n.2374C>A n.2388C>A | |
2 | g.43877676C= | CA2493965066 | ABCG8 | c.1872C= (p.Val624=) c.1869C= (p.Val623=) c.1884C= (p.Val628=) c.1881C= (p.Val627=) c.1656C= (p.Val552=) n.2374C= n.2388C= | |
2 | g.43877676C>G | CA46474371 | ABCG8 | c.1872C>G (p.Val624=) c.1869C>G (p.Val623=) c.1884C>G (p.Val628=) c.1881C>G (p.Val627=) c.1656C>G (p.Val552=) n.2374C>G n.2388C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877676C>T | CA425908263 | ABCG8 | c.1872C>T (p.Val624=) c.1869C>T (p.Val623=) c.1884C>T (p.Val628=) c.1881C>T (p.Val627=) c.1656C>T (p.Val552=) n.2374C>T n.2388C>T | gnomAD v4 |
2 | g.43877677T>A | CA346670990 | ABCG8 | c.1873T>A (p.Ser625Thr) c.1870T>A (p.Ser624Thr) c.1885T>A (p.Ser629Thr) c.1882T>A (p.Ser628Thr) c.1657T>A (p.Ser553Thr) n.2375T>A n.2389T>A | |
2 | g.43877677T>C | CA346670992 | ABCG8 | c.1873T>C (p.Ser625Pro) c.1870T>C (p.Ser624Pro) c.1885T>C (p.Ser629Pro) c.1882T>C (p.Ser628Pro) c.1657T>C (p.Ser553Pro) n.2375T>C n.2389T>C | |
2 | g.43877677T>G | CA346670991 | ABCG8 | c.1873T>G (p.Ser625Ala) c.1870T>G (p.Ser624Ala) c.1885T>G (p.Ser629Ala) c.1882T>G (p.Ser628Ala) c.1657T>G (p.Ser553Ala) n.2375T>G n.2389T>G | |
2 | g.43877678C>A | CA346670993 | ABCG8 | c.1874C>A (p.Ser625Ter) c.1871C>A (p.Ser624Ter) c.1886C>A (p.Ser629Ter) c.1883C>A (p.Ser628Ter) c.1658C>A (p.Ser553Ter) n.2376C>A n.2390C>A | |
2 | g.43877678C= | CA2493965067 | ABCG8 | c.1874C= (p.Ser625=) c.1871C= (p.Ser624=) c.1886C= (p.Ser629=) c.1883C= (p.Ser628=) c.1658C= (p.Ser553=) n.2376C= n.2390C= | |
2 | g.43877678C>G | CA346670994 | ABCG8 | c.1874C>G (p.Ser625Ter) c.1871C>G (p.Ser624Ter) c.1886C>G (p.Ser629Ter) c.1883C>G (p.Ser628Ter) c.1658C>G (p.Ser553Ter) n.2376C>G n.2390C>G | dbSNP |
2 | g.43877678C>T | CA346670995 | ABCG8 | c.1874C>T (p.Ser625Leu) c.1871C>T (p.Ser624Leu) c.1886C>T (p.Ser629Leu) c.1883C>T (p.Ser628Leu) c.1658C>T (p.Ser553Leu) n.2376C>T n.2390C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877679A= | CA2493965068 | ABCG8 | c.1875A= (p.Ser625=) c.1872A= (p.Ser624=) c.1887A= (p.Ser629=) c.1884A= (p.Ser628=) c.1659A= (p.Ser553=) n.2377A= n.2391A= | |
2 | g.43877679A>C | CA425908264 | ABCG8 | c.1875A>C (p.Ser625=) c.1872A>C (p.Ser624=) c.1887A>C (p.Ser629=) c.1884A>C (p.Ser628=) c.1659A>C (p.Ser553=) n.2377A>C n.2391A>C | |
2 | g.43877679A>G | CA425908265 | ABCG8 | c.1875A>G (p.Ser625=) c.1872A>G (p.Ser624=) c.1887A>G (p.Ser629=) c.1884A>G (p.Ser628=) c.1659A>G (p.Ser553=) n.2377A>G n.2391A>G | ClinVar gnomAD v4 |
2 | g.43877679A>T | CA425908266 | ABCG8 | c.1875A>T (p.Ser625=) c.1872A>T (p.Ser624=) c.1887A>T (p.Ser629=) c.1884A>T (p.Ser628=) c.1659A>T (p.Ser553=) n.2377A>T n.2391A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877680G>A | CA346670996 | ABCG8 | c.1876G>A (p.Gly626Arg) c.1873G>A (p.Gly625Arg) c.1888G>A (p.Gly630Arg) c.1885G>A (p.Gly629Arg) c.1660G>A (p.Gly554Arg) n.2378G>A n.2392G>A | |
2 | g.43877680G>C | CA346670997 | ABCG8 | c.1876G>C (p.Gly626Arg) c.1873G>C (p.Gly625Arg) c.1888G>C (p.Gly630Arg) c.1885G>C (p.Gly629Arg) c.1660G>C (p.Gly554Arg) n.2378G>C n.2392G>C | |
2 | g.43877680G>T | CA346670998 | ABCG8 | c.1876G>T (p.Gly626Ter) c.1873G>T (p.Gly625Ter) c.1888G>T (p.Gly630Ter) c.1885G>T (p.Gly629Ter) c.1660G>T (p.Gly554Ter) n.2378G>T n.2392G>T | |
2 | g.43877681G>A | CA346670999 | ABCG8 | c.1877G>A (p.Gly626Glu) c.1874G>A (p.Gly625Glu) c.1889G>A (p.Gly630Glu) c.1886G>A (p.Gly629Glu) c.1661G>A (p.Gly554Glu) n.2379G>A n.2393G>A | |
2 | g.43877681G>C | CA346671000 | ABCG8 | c.1877G>C (p.Gly626Ala) c.1874G>C (p.Gly625Ala) c.1889G>C (p.Gly630Ala) c.1886G>C (p.Gly629Ala) c.1661G>C (p.Gly554Ala) n.2379G>C n.2393G>C | gnomAD v4 |
2 | g.43877681G= | CA2493965069 | ABCG8 | c.1877G= (p.Gly626=) c.1874G= (p.Gly625=) c.1889G= (p.Gly630=) c.1886G= (p.Gly629=) c.1661G= (p.Gly554=) n.2379G= n.2393G= | |
2 | g.43877681G>T | CA1637689 | ABCG8 | c.1877G>T (p.Gly626Val) c.1874G>T (p.Gly625Val) c.1889G>T (p.Gly630Val) c.1886G>T (p.Gly629Val) c.1661G>T (p.Gly554Val) n.2379G>T n.2393G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877682A>C | CA425908267 | ABCG8 | c.1878A>C (p.Gly626=) c.1875A>C (p.Gly625=) c.1890A>C (p.Gly630=) c.1887A>C (p.Gly629=) c.1662A>C (p.Gly554=) n.2380A>C n.2394A>C | |
2 | g.43877682A>G | CA425908268 | ABCG8 | c.1878A>G (p.Gly626=) c.1875A>G (p.Gly625=) c.1890A>G (p.Gly630=) c.1887A>G (p.Gly629=) c.1662A>G (p.Gly554=) n.2380A>G n.2394A>G | |
2 | g.43877682A>T | CA425908269 | ABCG8 | c.1878A>T (p.Gly626=) c.1875A>T (p.Gly625=) c.1890A>T (p.Gly630=) c.1887A>T (p.Gly629=) c.1662A>T (p.Gly554=) n.2380A>T n.2394A>T | |
2 | g.43877683G>A | CA346671001 | ABCG8 | c.1879G>A (p.Asp627Asn) c.1876G>A (p.Asp626Asn) c.1891G>A (p.Asp631Asn) c.1888G>A (p.Asp630Asn) c.1663G>A (p.Asp555Asn) n.2381G>A n.2395G>A | |
2 | g.43877683G>C | CA346671002 | ABCG8 | c.1879G>C (p.Asp627His) c.1876G>C (p.Asp626His) c.1891G>C (p.Asp631His) c.1888G>C (p.Asp630His) c.1663G>C (p.Asp555His) n.2381G>C n.2395G>C | |
2 | g.43877683G>T | CA346671003 | ABCG8 | c.1879G>T (p.Asp627Tyr) c.1876G>T (p.Asp626Tyr) c.1891G>T (p.Asp631Tyr) c.1888G>T (p.Asp630Tyr) c.1663G>T (p.Asp555Tyr) n.2381G>T n.2395G>T | COSMIC |
2 | g.43877684A= | CA2493965070 | ABCG8 | c.1880A= (p.Asp627=) c.1877A= (p.Asp626=) c.1892A= (p.Asp631=) c.1889A= (p.Asp630=) c.1664A= (p.Asp555=) n.2382A= n.2396A= | |
2 | g.43877684A>C | CA346671005 | ABCG8 | c.1880A>C (p.Asp627Ala) c.1877A>C (p.Asp626Ala) c.1892A>C (p.Asp631Ala) c.1889A>C (p.Asp630Ala) c.1664A>C (p.Asp555Ala) n.2382A>C n.2396A>C | |
2 | g.43877684A>G | CA1637690 | ABCG8 | c.1880A>G (p.Asp627Gly) c.1877A>G (p.Asp626Gly) c.1892A>G (p.Asp631Gly) c.1889A>G (p.Asp630Gly) c.1664A>G (p.Asp555Gly) n.2382A>G n.2396A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877684A>T | CA346671004 | ABCG8 | c.1880A>T (p.Asp627Val) c.1877A>T (p.Asp626Val) c.1892A>T (p.Asp631Val) c.1889A>T (p.Asp630Val) c.1664A>T (p.Asp555Val) n.2382A>T n.2396A>T | |
2 | g.43877685_43877686del | CA2658838073 | ABCG8 | c.1881_1882del (p.Asp627GlufsTer?) c.1878_1879del (p.Asp626GlufsTer?) c.1893_1894del (p.Asp631GlufsTer?) c.1890_1891del (p.Asp630GlufsTer?) c.1665_1666del (p.Asp555GlufsTer?) n.2383_2384del n.2397_2398del | gnomAD v4 |
2 | g.43877685T>A | CA346671006 | ABCG8 | c.1881T>A (p.Asp627Glu) c.1878T>A (p.Asp626Glu) c.1893T>A (p.Asp631Glu) c.1890T>A (p.Asp630Glu) c.1665T>A (p.Asp555Glu) n.2383T>A n.2397T>A | |
2 | g.43877685T>C | CA425908272 | ABCG8 | c.1881T>C (p.Asp627=) c.1878T>C (p.Asp626=) c.1893T>C (p.Asp631=) c.1890T>C (p.Asp630=) c.1665T>C (p.Asp555=) n.2383T>C n.2397T>C | gnomAD v3 gnomAD v4 |
2 | g.43877685T>G | CA346671007 | ABCG8 | c.1881T>G (p.Asp627Glu) c.1878T>G (p.Asp626Glu) c.1893T>G (p.Asp631Glu) c.1890T>G (p.Asp630Glu) c.1665T>G (p.Asp555Glu) n.2383T>G n.2397T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877685T= | CA2493965071 | ABCG8 | c.1881T= (p.Asp627=) c.1878T= (p.Asp626=) c.1893T= (p.Asp631=) c.1890T= (p.Asp630=) c.1665T= (p.Asp555=) n.2383T= n.2397T= | |
2 | g.43877686A>C | CA346671008 | ABCG8 | c.1882A>C (p.Lys628Gln) c.1879A>C (p.Lys627Gln) c.1894A>C (p.Lys632Gln) c.1891A>C (p.Lys631Gln) c.1666A>C (p.Lys556Gln) n.2384A>C n.2398A>C | |
2 | g.43877686A>G | CA346671009 | ABCG8 | c.1882A>G (p.Lys628Glu) c.1879A>G (p.Lys627Glu) c.1894A>G (p.Lys632Glu) c.1891A>G (p.Lys631Glu) c.1666A>G (p.Lys556Glu) n.2384A>G n.2398A>G | |
2 | g.43877686A>T | CA346671010 | ABCG8 | c.1882A>T (p.Lys628Ter) c.1879A>T (p.Lys627Ter) c.1894A>T (p.Lys632Ter) c.1891A>T (p.Lys631Ter) c.1666A>T (p.Lys556Ter) n.2384A>T n.2398A>T | gnomAD v4 |
2 | g.43877688dup | CA2658838074 | ABCG8 | c.1884dup (p.Ile629AsnfsTer?) c.1881dup (p.Ile628AsnfsTer?) c.1896dup (p.Ile633AsnfsTer?) c.1893dup (p.Ile632AsnfsTer?) c.1668dup (p.Ile557AsnfsTer?) n.2386dup n.2400dup | gnomAD v4 |
2 | g.43877687A= | CA2493965072 | ABCG8 | c.1883A= (p.Lys628=) c.1880A= (p.Lys627=) c.1895A= (p.Lys632=) c.1892A= (p.Lys631=) c.1667A= (p.Lys556=) n.2385A= n.2399A= | |
2 | g.43877687A>C | CA346671013 | ABCG8 | c.1883A>C (p.Lys628Thr) c.1880A>C (p.Lys627Thr) c.1895A>C (p.Lys632Thr) c.1892A>C (p.Lys631Thr) c.1667A>C (p.Lys556Thr) n.2385A>C n.2399A>C | |
2 | g.43877687A>G | CA346671011 | ABCG8 | c.1883A>G (p.Lys628Arg) c.1880A>G (p.Lys627Arg) c.1895A>G (p.Lys632Arg) c.1892A>G (p.Lys631Arg) c.1667A>G (p.Lys556Arg) n.2385A>G n.2399A>G | dbSNP |
2 | g.43877687A>T | CA346671012 | ABCG8 | c.1883A>T (p.Lys628Ile) c.1880A>T (p.Lys627Ile) c.1895A>T (p.Lys632Ile) c.1892A>T (p.Lys631Ile) c.1667A>T (p.Lys556Ile) n.2385A>T n.2399A>T | |
2 | g.43877688A= | CA2493965073 | ABCG8 | c.1884A= (p.Lys628=) c.1881A= (p.Lys627=) c.1896A= (p.Lys632=) c.1893A= (p.Lys631=) c.1668A= (p.Lys556=) n.2386A= n.2400A= | |
2 | g.43877688A>C | CA346671014 | ABCG8 | c.1884A>C (p.Lys628Asn) c.1881A>C (p.Lys627Asn) c.1896A>C (p.Lys632Asn) c.1893A>C (p.Lys631Asn) c.1668A>C (p.Lys556Asn) n.2386A>C n.2400A>C | |
2 | g.43877688A>G | CA1637691 | ABCG8 | c.1884A>G (p.Lys628=) c.1881A>G (p.Lys627=) c.1896A>G (p.Lys632=) c.1893A>G (p.Lys631=) c.1668A>G (p.Lys556=) n.2386A>G n.2400A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877688A>T | CA346671015 | ABCG8 | c.1884A>T (p.Lys628Asn) c.1881A>T (p.Lys627Asn) c.1896A>T (p.Lys632Asn) c.1893A>T (p.Lys631Asn) c.1668A>T (p.Lys556Asn) n.2386A>T n.2400A>T | |
2 | g.43877689G>A | CA1637692 | ABCG8 | c.1884+1G>A (n.1884+1G>A) c.1881+1G>A (n.1881+1G>A) c.1896+1G>A (n.1896+1G>A) c.1893+1G>A (n.1893+1G>A) c.1668+1G>A (n.1668+1G>A) n.2386+1G>A n.2400+1G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877689G>C | CA346671016 | ABCG8 | c.1884+1G>C (n.1884+1G>C) c.1881+1G>C (n.1881+1G>C) c.1896+1G>C (n.1896+1G>C) c.1893+1G>C (n.1893+1G>C) c.1668+1G>C (n.1668+1G>C) n.2386+1G>C n.2400+1G>C | gnomAD v4 |
2 | g.43877689G= | CA2493965074 | ABCG8 | c.1884+1G= (n.1884+1G=) c.1881+1G= (n.1881+1G=) c.1896+1G= (n.1896+1G=) c.1893+1G= (n.1893+1G=) c.1668+1G= (n.1668+1G=) n.2386+1G= n.2400+1G= | |
2 | g.43877689G>T | CA346671017 | ABCG8 | c.1884+1G>T (n.1884+1G>T) c.1881+1G>T (n.1881+1G>T) c.1896+1G>T (n.1896+1G>T) c.1893+1G>T (n.1893+1G>T) c.1668+1G>T (n.1668+1G>T) n.2386+1G>T n.2400+1G>T | ClinVar |