Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.43877586C>ACA1637664ABCG8c.1782C>A (p.Ser594=)
c.1779C>A (p.Ser593=)
c.1794C>A (p.Ser598=)
c.1791C>A (p.Ser597=)
c.1566C>A (p.Ser522=)
n.2284C>A
n.2298C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877586C=CA2493965015ABCG8c.1782C= (p.Ser594=)
c.1779C= (p.Ser593=)
c.1794C= (p.Ser598=)
c.1791C= (p.Ser597=)
c.1566C= (p.Ser522=)
n.2284C=
n.2298C=
2g.43877586C>GCA425908166ABCG8c.1782C>G (p.Ser594=)
c.1779C>G (p.Ser593=)
c.1794C>G (p.Ser598=)
c.1791C>G (p.Ser597=)
c.1566C>G (p.Ser522=)
n.2284C>G
n.2298C>G
2g.43877586C>TCA1637663ABCG8c.1782C>T (p.Ser594=)
c.1779C>T (p.Ser593=)
c.1794C>T (p.Ser598=)
c.1791C>T (p.Ser597=)
c.1566C>T (p.Ser522=)
n.2284C>T
n.2298C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877587T>ACA346670798ABCG8c.1783T>A (p.Phe595Ile)
c.1780T>A (p.Phe594Ile)
c.1795T>A (p.Phe599Ile)
c.1792T>A (p.Phe598Ile)
c.1567T>A (p.Phe523Ile)
n.2285T>A
n.2299T>A
2g.43877587T>CCA346670800ABCG8c.1783T>C (p.Phe595Leu)
c.1780T>C (p.Phe594Leu)
c.1795T>C (p.Phe599Leu)
c.1792T>C (p.Phe598Leu)
c.1567T>C (p.Phe523Leu)
n.2285T>C
n.2299T>C
2g.43877587T>GCA346670799ABCG8c.1783T>G (p.Phe595Val)
c.1780T>G (p.Phe594Val)
c.1795T>G (p.Phe599Val)
c.1792T>G (p.Phe598Val)
c.1567T>G (p.Phe523Val)
n.2285T>G
n.2299T>G
2g.43877588T>ACA346670801ABCG8c.1784T>A (p.Phe595Tyr)
c.1781T>A (p.Phe594Tyr)
c.1796T>A (p.Phe599Tyr)
c.1793T>A (p.Phe598Tyr)
c.1568T>A (p.Phe523Tyr)
n.2286T>A
n.2300T>A
2g.43877588T>CCA346670803ABCG8c.1784T>C (p.Phe595Ser)
c.1781T>C (p.Phe594Ser)
c.1796T>C (p.Phe599Ser)
c.1793T>C (p.Phe598Ser)
c.1568T>C (p.Phe523Ser)
n.2286T>C
n.2300T>C
2g.43877588T>GCA346670802ABCG8c.1784T>G (p.Phe595Cys)
c.1781T>G (p.Phe594Cys)
c.1796T>G (p.Phe599Cys)
c.1793T>G (p.Phe598Cys)
c.1568T>G (p.Phe523Cys)
n.2286T>G
n.2300T>G
2g.43877589C>ACA346670804ABCG8c.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
2g.43877589C=CA2493965016ABCG8c.1785C= (p.Phe595=)
c.1782C= (p.Phe594=)
c.1797C= (p.Phe599=)
c.1794C= (p.Phe598=)
c.1569C= (p.Phe523=)
n.2287C=
n.2301C=
2g.43877589C>GCA346670805ABCG8c.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
2g.43877589C>TCA1637665ABCG8c.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
2g.43877590C>ACA346670806ABCG8c.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
2g.43877590C>GCA346670807ABCG8c.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
2g.43877590C>TCA425908168ABCG8c.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
2g.43877591T>ACA346670808ABCG8c.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
2g.43877591T>CCA346670809ABCG8c.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
2g.43877591T>GCA253368ABCG8c.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
2g.43877591T=CA2493965017ABCG8c.1787T= (p.Leu596=)
c.1784T= (p.Leu595=)
c.1799T= (p.Leu600=)
c.1796T= (p.Leu599=)
c.1571T= (p.Leu524=)
n.2289T=
n.2303T=
2g.43877592G>ACA425908170ABCG8c.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
2g.43877592G>CCA425908171ABCG8c.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
2g.43877592G=CA2493965018ABCG8c.1788G= (p.Leu596=)
c.1785G= (p.Leu595=)
c.1800G= (p.Leu600=)
c.1797G= (p.Leu599=)
c.1572G= (p.Leu524=)
n.2290G=
n.2304G=
2g.43877592G>TCA425908169ABCG8c.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
2g.43877593C>ACA46474130ABCG8c.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
2g.43877593C=CA2493965019ABCG8c.1789C= (p.Arg597=)
c.1786C= (p.Arg596=)
c.1801C= (p.Arg601=)
c.1798C= (p.Arg600=)
c.1573C= (p.Arg525=)
n.2291C=
n.2305C=
2g.43877593C>GCA346670810ABCG8c.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
2g.43877593C>TCA1637666ABCG8c.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
2g.43877594G>ACA1637667ABCG8c.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
2g.43877594G>CCA346670811ABCG8c.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
2g.43877594G=CA2493965020ABCG8c.1790G= (p.Arg597=)
c.1787G= (p.Arg596=)
c.1802G= (p.Arg601=)
c.1799G= (p.Arg600=)
c.1574G= (p.Arg525=)
n.2292G=
n.2306G=
2g.43877594G>TCA346670812ABCG8c.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
2g.43877595delCA2658838070ABCG8c.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
2g.43877595G>ACA425908175ABCG8c.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
2g.43877595G>CCA1637668ABCG8c.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
2g.43877595G=CA2493965021ABCG8c.1791G= (p.Arg597=)
c.1788G= (p.Arg596=)
c.1803G= (p.Arg601=)
c.1800G= (p.Arg600=)
c.1575G= (p.Arg525=)
n.2293G=
n.2307G=
2g.43877595G>TCA425908173ABCG8c.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
2g.43877596T>ACA346670813ABCG8c.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
2g.43877596T>CCA346670814ABCG8c.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
2g.43877596T>GCA346670815ABCG8c.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
2g.43877597G>ACA346670816ABCG8c.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
2g.43877597G>CCA346670817ABCG8c.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
2g.43877597G>TCA346670818ABCG8c.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
2g.43877598G>ACA346670819ABCG8c.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
2g.43877598G>CCA46474190ABCG8c.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
2g.43877598G=CA2493965022ABCG8c.1794G= (p.Trp598=)
c.1791G= (p.Trp597=)
c.1806G= (p.Trp602=)
c.1803G= (p.Trp601=)
c.1578G= (p.Trp526=)
n.2296G=
n.2310G=
2g.43877598G>TCA346670820ABCG8c.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
2g.43877600_43877601delCA2658838071ABCG8c.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
2g.43877599T>ACA346670821ABCG8c.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
2g.43877599T>CCA346670822ABCG8c.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
2g.43877599T>GCA346670823ABCG8c.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
2g.43877600G>ACA346670826ABCG8c.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
2g.43877600G>CCA346670825ABCG8c.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
2g.43877600G>TCA346670824ABCG8c.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
2g.43877601T>ACA346670828ABCG8c.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
2g.43877601T>CCA425908178ABCG8c.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
2g.43877601T>GCA346670827ABCG8c.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
2g.43877601T=CA2493965023ABCG8c.1797T= (p.Cys599=)
c.1794T= (p.Cys598=)
c.1809T= (p.Cys603=)
c.1806T= (p.Cys602=)
c.1581T= (p.Cys527=)
n.2299T=
n.2313T=
2g.43877602T>ACA346670829ABCG8c.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
2g.43877602T>CCA346670830ABCG8c.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
2g.43877602T>GCA346670831ABCG8c.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
2g.43877602T=CA2493965024ABCG8c.1798T= (p.Phe600=)
c.1795T= (p.Phe599=)
c.1810T= (p.Phe604=)
c.1807T= (p.Phe603=)
c.1582T= (p.Phe528=)
n.2300T=
n.2314T=
2g.43877603T>ACA346670832ABCG8c.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
2g.43877603T>CCA346670833ABCG8c.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
2g.43877603T>GCA346670834ABCG8c.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
2g.43877604T>ACA346670835ABCG8c.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
2g.43877604T>CCA425908181ABCG8c.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
2g.43877604T>GCA346670836ABCG8c.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
2g.43877605G>ACA346670837ABCG8c.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
2g.43877605G>CCA346670838ABCG8c.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
2g.43877605G>TCA346670839ABCG8c.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
2g.43877606A>CCA346670842ABCG8c.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
2g.43877606A>GCA346670841ABCG8c.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
2g.43877606A>TCA346670840ABCG8c.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
2g.43877607A=CA2493965025ABCG8c.1803A= (p.Glu601=)
c.1800A= (p.Glu600=)
c.1815A= (p.Glu605=)
c.1812A= (p.Glu604=)
c.1587A= (p.Glu529=)
n.2305A=
n.2319A=
2g.43877607A>CCA346670843ABCG8c.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
2g.43877607A>GCA425908184ABCG8c.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
2g.43877607A>TCA346670844ABCG8c.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
2g.43877608G>ACA1637669ABCG8c.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
2g.43877608G>CCA346670845ABCG8c.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
2g.43877608G=CA2493965026ABCG8c.1804G= (p.Gly602=)
c.1801G= (p.Gly601=)
c.1816G= (p.Gly606=)
c.1813G= (p.Gly605=)
c.1588G= (p.Gly530=)
n.2306G=
n.2320G=
2g.43877608G>TCA346670846ABCG8c.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
2g.43877609G>ACA346670847ABCG8c.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
2g.43877609G>CCA346670848ABCG8c.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
2g.43877609G>TCA346670849ABCG8c.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
2g.43877610G>ACA425908189ABCG8c.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
2g.43877610G>CCA425908190ABCG8c.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
2g.43877610G>TCA425908191ABCG8c.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
2g.43877611C>ACA346670850ABCG8c.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
2g.43877611C=CA2493965027ABCG8c.1807C= (p.Leu603=)
c.1804C= (p.Leu602=)
c.1819C= (p.Leu607=)
c.1816C= (p.Leu606=)
c.1591C= (p.Leu531=)
n.2309C=
n.2323C=
2g.43877611C>GCA1637670ABCG8c.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
2g.43877611C>TCA425908192ABCG8c.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
2g.43877612T>ACA346670851ABCG8c.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
2g.43877612T>CCA346670852ABCG8c.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
2g.43877612T>GCA346670853ABCG8c.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
2g.43877613G>ACA425908195ABCG8c.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
2g.43877613G>CCA425908196ABCG8c.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
2g.43877613G=CA2493965028ABCG8c.1809G= (p.Leu603=)
c.1806G= (p.Leu602=)
c.1821G= (p.Leu607=)
c.1818G= (p.Leu606=)
c.1593G= (p.Leu531=)
n.2311G=
n.2325G=
2g.43877613G>TCA425908194ABCG8c.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
2g.43877614A>CCA346670855ABCG8c.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
2g.43877614A>GCA346670856ABCG8c.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
2g.43877614A>TCA346670854ABCG8c.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
2g.43877615T>ACA346670857ABCG8c.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
2g.43877615T>CCA346670858ABCG8c.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
2g.43877615T>GCA346670859ABCG8c.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
2g.43877615_43877618delinsTGAACA2493965029ABCG8c.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
2g.43877616G>ACA346670860ABCG8c.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
2g.43877616G>CCA346670861ABCG8c.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
2g.43877616G=CA2493965030ABCG8c.1812G= (p.Met604=)
c.1809G= (p.Met603=)
c.1824G= (p.Met608=)
c.1821G= (p.Met607=)
c.1596G= (p.Met532=)
n.2314G=
n.2328G=
2g.43877616G>TCA346670862ABCG8c.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
2g.43877618_43877620delCA1637671ABCG8c.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
2g.43877617A>CCA346670863ABCG8c.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
2g.43877617A>GCA346670864ABCG8c.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
2g.43877617A>TCA346670865ABCG8c.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
2g.43877618A>CCA346670866ABCG8c.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
2g.43877618A>GCA346670867ABCG8c.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
2g.43877618A>TCA346670868ABCG8c.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
2g.43877619G>ACA1637672ABCG8c.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
2g.43877619G>CCA346670870ABCG8c.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
2g.43877619G=CA2493965031ABCG8c.1815G= (p.Lys605=)
c.1812G= (p.Lys604=)
c.1827G= (p.Lys609=)
c.1824G= (p.Lys608=)
c.1599G= (p.Lys533=)
n.2317G=
n.2331G=
2g.43877619G>TCA346670869ABCG8c.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
2g.43877620A=CA2493965033ABCG8c.1816A= (p.Ile606=)
c.1813A= (p.Ile605=)
c.1828A= (p.Ile610=)
c.1825A= (p.Ile609=)
c.1600A= (p.Ile534=)
n.2318A=
n.2332A=
2g.43877620A>CCA346670871ABCG8c.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
2g.43877620A>GCA346670872ABCG8c.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
2g.43877620A>TCA346670873ABCG8c.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
2g.43877620_43877621delinsATCA2493965032ABCG8c.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
2g.43877621T>ACA346670874ABCG8c.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
2g.43877621T>CCA346670875ABCG8c.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
2g.43877621T>GCA346670876ABCG8c.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
2g.43877621T=CA2493965034ABCG8c.1817T= (p.Ile606=)
c.1814T= (p.Ile605=)
c.1829T= (p.Ile610=)
c.1826T= (p.Ile609=)
c.1601T= (p.Ile534=)
n.2319T=
n.2333T=
2g.43877622delCA769091425ABCG8c.1818del (p.Gln607SerfsTer?)
c.1815del (p.Gln606SerfsTer?)
c.1830del (p.Gln611SerfsTer?)
c.1827del (p.Gln610SerfsTer?)
c.1602del (p.Gln535SerfsTer?)
n.2320del
n.2334del
 dbSNP
2g.43877622T>ACA425908203ABCG8c.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
2g.43877622T>CCA425908204ABCG8c.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
2g.43877622T>GCA346670877ABCG8c.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
2g.43877623C>ACA346670878ABCG8c.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
2g.43877623C=CA2493965035ABCG8c.1819C= (p.Gln607=)
c.1816C= (p.Gln606=)
c.1831C= (p.Gln611=)
c.1828C= (p.Gln610=)
c.1603C= (p.Gln535=)
n.2321C=
n.2335C=
2g.43877623C>GCA346670879ABCG8c.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
2g.43877623C>TCA1637673ABCG8c.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
2g.43877624A=CA2493965036ABCG8c.1820A= (p.Gln607=)
c.1817A= (p.Gln606=)
c.1832A= (p.Gln611=)
c.1829A= (p.Gln610=)
c.1604A= (p.Gln535=)
n.2322A=
n.2336A=
2g.43877624A>CCA346670880ABCG8c.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
2g.43877624A>GCA346670881ABCG8c.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
2g.43877624A>TCA346670882ABCG8c.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
2g.43877625G>ACA1637674ABCG8c.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
2g.43877625G>CCA346670884ABCG8c.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
2g.43877625G=CA2493965037ABCG8c.1821G= (p.Gln607=)
c.1818G= (p.Gln606=)
c.1833G= (p.Gln611=)
c.1830G= (p.Gln610=)
c.1605G= (p.Gln535=)
n.2323G=
n.2337G=
2g.43877625G>TCA346670883ABCG8c.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
2g.43877626T>ACA346670885ABCG8c.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
2g.43877626T>CCA346670886ABCG8c.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
2g.43877626T>GCA346670887ABCG8c.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
2g.43877627T>ACA346670888ABCG8c.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
2g.43877627T>CCA346670889ABCG8c.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
2g.43877627T>GCA346670890ABCG8c.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
2g.43877628C>ACA346670891ABCG8c.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
2g.43877628C>GCA346670892ABCG8c.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
2g.43877628C>TCA425908211ABCG8c.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
2g.43877629A=CA2493965039ABCG8c.1825A= (p.Ser609=)
c.1822A= (p.Ser608=)
c.1837A= (p.Ser613=)
c.1834A= (p.Ser612=)
c.1609A= (p.Ser537=)
n.2327A=
n.2341A=
2g.43877629A>CCA346670893ABCG8c.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
2g.43877629A>GCA346670894ABCG8c.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
2g.43877629A>TCA346670895ABCG8c.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
2g.43877629_43877630delinsAGCA2493965038ABCG8c.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
2g.43877630delCA2493965040ABCG8c.1826del (p.Ser609ThrfsTer?)
c.1823del (p.Ser608ThrfsTer?)
c.1838del (p.Ser613ThrfsTer?)
c.1835del (p.Ser612ThrfsTer?)
c.1610del (p.Ser537ThrfsTer?)
n.2328del
n.2342del
 dbSNP
2g.43877630G>ACA346670898ABCG8c.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
2g.43877630G>CCA346670897ABCG8c.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
2g.43877630G>TCA346670896ABCG8c.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
2g.43877631C>ACA346670899ABCG8c.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
2g.43877631C=CA2493965042ABCG8c.1827C= (p.Ser609=)
c.1824C= (p.Ser608=)
c.1839C= (p.Ser613=)
c.1836C= (p.Ser612=)
c.1611C= (p.Ser537=)
n.2329C=
n.2343C=
2g.43877631C>GCA346670900ABCG8c.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
2g.43877631C>TCA425908213ABCG8c.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
2g.43877631_43877634delinsCAGACA2493965041ABCG8c.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
2g.43877632A>CCA425908214ABCG8c.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
2g.43877632A>GCA346670901ABCG8c.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
2g.43877632A>TCA346670902ABCG8c.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
2g.43877636_43877638dupCA2493965043ABCG8c.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
2g.43877636_43877638delCA1637675ABCG8c.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
2g.43877633G>ACA346670903ABCG8c.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
2g.43877633G>CCA346670904ABCG8c.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
2g.43877633G=CA2493965044ABCG8c.1829G= (p.Arg610=)
c.1826G= (p.Arg609=)
c.1841G= (p.Arg614=)
c.1838G= (p.Arg613=)
c.1613G= (p.Arg538=)
n.2331G=
n.2345G=
2g.43877633G>TCA346670905ABCG8c.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
2g.43877634A=CA2493965045ABCG8c.1830A= (p.Arg610=)
c.1827A= (p.Arg609=)
c.1842A= (p.Arg614=)
c.1839A= (p.Arg613=)
c.1614A= (p.Arg538=)
n.2332A=
n.2346A=
2g.43877634A>CCA346670906ABCG8c.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
2g.43877634A>GCA425908215ABCG8c.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
2g.43877634A>TCA346670907ABCG8c.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
2g.43877635A>CCA425908216ABCG8c.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
2g.43877635A>GCA346670908ABCG8c.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
2g.43877635A>TCA346670909ABCG8c.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
2g.43877636G>ACA346670911ABCG8c.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
2g.43877636G>CCA46474244ABCG8c.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
2g.43877636G=CA2493965046ABCG8c.1832G= (p.Arg611=)
c.1829G= (p.Arg610=)
c.1844G= (p.Arg615=)
c.1841G= (p.Arg614=)
c.1616G= (p.Arg539=)
n.2334G=
n.2348G=
2g.43877636G>TCA346670910ABCG8c.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
2g.43877637A=CA2493965047ABCG8c.1833A= (p.Arg611=)
c.1830A= (p.Arg610=)
c.1845A= (p.Arg615=)
c.1842A= (p.Arg614=)
c.1617A= (p.Arg539=)
n.2335A=
n.2349A=
2g.43877637A>CCA1637676ABCG8c.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
2g.43877637A>GCA425908217ABCG8c.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
2g.43877637A>TCA346670912ABCG8c.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
2g.43877638A=CA2493965048ABCG8c.1834A= (p.Thr612=)
c.1831A= (p.Thr611=)
c.1846A= (p.Thr616=)
c.1843A= (p.Thr615=)
c.1618A= (p.Thr540=)
n.2336A=
n.2350A=
2g.43877638A>CCA346670914ABCG8c.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
2g.43877638A>GCA46474255ABCG8c.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
2g.43877638A>TCA346670913ABCG8c.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
2g.43877639C>ACA346670915ABCG8c.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
2g.43877639C>GCA346670916ABCG8c.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
2g.43877639C>TCA346670917ABCG8c.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
2g.43877640T>ACA425908221ABCG8c.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
2g.43877640T>CCA425908222ABCG8c.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
2g.43877640T>GCA425908223ABCG8c.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
2g.43877640_43877641dupCA2658838072ABCG8c.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
2g.43877641T>ACA346670919ABCG8c.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
2g.43877641T>CCA1637677ABCG8c.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
2g.43877641T>GCA346670918ABCG8c.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
2g.43877641T=CA2493965049ABCG8c.1837T= (p.Tyr613=)
c.1834T= (p.Tyr612=)
c.1849T= (p.Tyr617=)
c.1846T= (p.Tyr616=)
c.1621T= (p.Tyr541=)
n.2339T=
n.2353T=
2g.43877642A>CCA346670920ABCG8c.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
2g.43877642A>GCA346670921ABCG8c.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
2g.43877642A>TCA346670922ABCG8c.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
2g.43877643T>ACA346670923ABCG8c.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
2g.43877643T>CCA1637678ABCG8c.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
2g.43877643T>GCA346670924ABCG8c.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
2g.43877643T=CA2493965050ABCG8c.1839T= (p.Tyr613=)
c.1836T= (p.Tyr612=)
c.1851T= (p.Tyr617=)
c.1848T= (p.Tyr616=)
c.1623T= (p.Tyr541=)
n.2341T=
n.2355T=
2g.43877644A=CA2493965051ABCG8c.1840A= (p.Lys614=)
c.1837A= (p.Lys613=)
c.1852A= (p.Lys618=)
c.1849A= (p.Lys617=)
c.1624A= (p.Lys542=)
n.2342A=
n.2356A=
2g.43877644A>CCA346670926ABCG8c.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
2g.43877644A>GCA1637679ABCG8c.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
2g.43877644A>TCA346670925ABCG8c.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
2g.43877645A>CCA346670927ABCG8c.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
2g.43877645A>GCA346670928ABCG8c.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
2g.43877645A>TCA346670929ABCG8c.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
2g.43877646A=CA2493965052ABCG8c.1842A= (p.Lys614=)
c.1839A= (p.Lys613=)
c.1854A= (p.Lys618=)
c.1851A= (p.Lys617=)
c.1626A= (p.Lys542=)
n.2344A=
n.2358A=
2g.43877646A>CCA346670930ABCG8c.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
2g.43877646A>GCA1637680ABCG8c.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
2g.43877646A>TCA346670931ABCG8c.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
2g.43877648_43877692delCA2586969038ABCG8c.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
2g.43877647A>CCA346670932ABCG8c.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
2g.43877647A>GCA346670933ABCG8c.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
2g.43877647A>TCA346670934ABCG8c.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
2g.43877648T>ACA346670935ABCG8c.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
2g.43877648T>CCA346670936ABCG8c.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
2g.43877648T>GCA346670937ABCG8c.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
2g.43877649G>ACA346670938ABCG8c.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
2g.43877649G>CCA1637681ABCG8c.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
2g.43877649G=CA2493965053ABCG8c.1845G= (p.Met615=)
c.1842G= (p.Met614=)
c.1857G= (p.Met619=)
c.1854G= (p.Met618=)
c.1629G= (p.Met543=)
n.2347G=
n.2361G=
2g.43877649G>TCA346670939ABCG8c.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
2g.43877650C>ACA346670940ABCG8c.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
2g.43877650C=CA2493965054ABCG8c.1846C= (p.Pro616=)
c.1843C= (p.Pro615=)
c.1858C= (p.Pro620=)
c.1855C= (p.Pro619=)
c.1630C= (p.Pro544=)
n.2348C=
n.2362C=
2g.43877650C>GCA346670941ABCG8c.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
2g.43877650C>TCA1637682ABCG8c.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
2g.43877651C>ACA346670942ABCG8c.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
2g.43877651C=CA2493965055ABCG8c.1847C= (p.Pro616=)
c.1844C= (p.Pro615=)
c.1859C= (p.Pro620=)
c.1856C= (p.Pro619=)
c.1631C= (p.Pro544=)
n.2349C=
n.2363C=
2g.43877651C>GCA346670943ABCG8c.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
2g.43877651C>TCA346670944ABCG8c.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
2g.43877652T>ACA425908232ABCG8c.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
2g.43877652T>CCA425908233ABCG8c.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
2g.43877652T>GCA425908234ABCG8c.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
2g.43877653C>ACA346670945ABCG8c.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
2g.43877653C=CA2493965056ABCG8c.1849C= (p.Leu617=)
c.1846C= (p.Leu616=)
c.1861C= (p.Leu621=)
c.1858C= (p.Leu620=)
c.1633C= (p.Leu545=)
n.2351C=
n.2365C=
2g.43877653C>GCA346670946ABCG8c.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
2g.43877653C>TCA346670947ABCG8c.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
2g.43877654T>ACA346670948ABCG8c.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
2g.43877654T>CCA346670949ABCG8c.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
2g.43877654T>GCA346670950ABCG8c.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
2g.43877655C>ACA425908236ABCG8c.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
2g.43877655C=CA2493965057ABCG8c.1851C= (p.Leu617=)
c.1848C= (p.Leu616=)
c.1863C= (p.Leu621=)
c.1860C= (p.Leu620=)
c.1635C= (p.Leu545=)
n.2353C=
n.2367C=
2g.43877655C>GCA425908238ABCG8c.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
2g.43877655C>TCA425908239ABCG8c.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
2g.43877656G>ACA46474316ABCG8c.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
2g.43877656G>CCA346670951ABCG8c.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
2g.43877656G=CA2493965058ABCG8c.1852G= (p.Gly618=)
c.1849G= (p.Gly617=)
c.1864G= (p.Gly622=)
c.1861G= (p.Gly621=)
c.1636G= (p.Gly546=)
n.2354G=
n.2368G=
2g.43877656G>TCA346670952ABCG8c.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
2g.43877657G>ACA346670953ABCG8c.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
2g.43877657G>CCA346670954ABCG8c.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
2g.43877657G>TCA346670955ABCG8c.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
2g.43877658G>ACA425908241ABCG8c.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
2g.43877658G>CCA425908242ABCG8c.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
2g.43877658G>TCA425908243ABCG8c.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
2g.43877659A>CCA346670956ABCG8c.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
2g.43877659A>GCA346670957ABCG8c.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
2g.43877659A>TCA346670958ABCG8c.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
2g.43877660A>CCA346670959ABCG8c.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
2g.43877660A>GCA346670960ABCG8c.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
2g.43877660A>TCA346670961ABCG8c.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
2g.43877661C>ACA346670962ABCG8c.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
2g.43877661C>GCA346670963ABCG8c.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
2g.43877661C>TCA425908247ABCG8c.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
2g.43877662C>ACA1637684ABCG8c.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
2g.43877662C=CA2493965059ABCG8c.1858C= (p.Leu620=)
c.1855C= (p.Leu619=)
c.1870C= (p.Leu624=)
c.1867C= (p.Leu623=)
c.1642C= (p.Leu548=)
n.2360C=
n.2374C=
2g.43877662C>GCA346670964ABCG8c.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
2g.43877662C>TCA1637683ABCG8c.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
2g.43877663T>ACA346670965ABCG8c.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
2g.43877663T>CCA346670966ABCG8c.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
2g.43877663T>GCA346670967ABCG8c.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
2g.43877664C>ACA425908248ABCG8c.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
2g.43877664C>GCA425908250ABCG8c.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
2g.43877664C>TCA425908251ABCG8c.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
2g.43877665A>CCA346670968ABCG8c.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
2g.43877665A>GCA346670969ABCG8c.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
2g.43877665A>TCA346670970ABCG8c.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
2g.43877666C>ACA346670971ABCG8c.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
2g.43877666C>GCA346670972ABCG8c.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
2g.43877666C>TCA346670973ABCG8c.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
2g.43877667C>ACA425908252ABCG8c.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
2g.43877667C>GCA425908255ABCG8c.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
2g.43877667C>TCA425908253ABCG8c.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
2g.43877668A>CCA346670974ABCG8c.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
2g.43877668A>GCA346670975ABCG8c.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
2g.43877668A>TCA346670976ABCG8c.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
2g.43877669T>ACA346670977ABCG8c.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
2g.43877669T>CCA1637685ABCG8c.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
2g.43877669T>GCA346670978ABCG8c.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
2g.43877669T=CA2493965060ABCG8c.1865T= (p.Ile622=)
c.1862T= (p.Ile621=)
c.1877T= (p.Ile626=)
c.1874T= (p.Ile625=)
c.1649T= (p.Ile550=)
n.2367T=
n.2381T=
2g.43877670C>ACA425908257ABCG8c.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
2g.43877670C=CA2493965061ABCG8c.1866C= (p.Ile622=)
c.1863C= (p.Ile621=)
c.1878C= (p.Ile626=)
c.1875C= (p.Ile625=)
c.1650C= (p.Ile550=)
n.2368C=
n.2382C=
2g.43877670C>GCA346670979ABCG8c.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
2g.43877670C>TCA425908258ABCG8c.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
2g.43877671G>ACA1637686ABCG8c.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
2g.43877671G>CCA346670980ABCG8c.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
2g.43877671G=CA2493965062ABCG8c.1867G= (p.Ala623=)
c.1864G= (p.Ala622=)
c.1879G= (p.Ala627=)
c.1876G= (p.Ala626=)
c.1651G= (p.Ala551=)
n.2369G=
n.2383G=
2g.43877671G>TCA346670981ABCG8c.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
2g.43877672C>ACA346670982ABCG8c.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
2g.43877672C=CA2493965063ABCG8c.1868C= (p.Ala623=)
c.1865C= (p.Ala622=)
c.1880C= (p.Ala627=)
c.1877C= (p.Ala626=)
c.1652C= (p.Ala551=)
n.2370C=
n.2384C=
2g.43877672C>GCA346670983ABCG8c.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
2g.43877672C>TCA1637687ABCG8c.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
2g.43877673G>ACA425908260ABCG8c.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
2g.43877673G>CCA425908261ABCG8c.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
2g.43877673G=CA2493965064ABCG8c.1869G= (p.Ala623=)
c.1866G= (p.Ala622=)
c.1881G= (p.Ala627=)
c.1878G= (p.Ala626=)
c.1653G= (p.Ala551=)
n.2371G=
n.2385G=
2g.43877673G>TCA1637688ABCG8c.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
2g.43877674G>ACA346670984ABCG8c.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
2g.43877674G>CCA346670985ABCG8c.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
2g.43877674G>TCA346670986ABCG8c.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
2g.43877675T>ACA346670987ABCG8c.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
2g.43877675T>CCA346670988ABCG8c.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
2g.43877675T>GCA346670989ABCG8c.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
2g.43877675T=CA2493965065ABCG8c.1871T= (p.Val624=)
c.1868T= (p.Val623=)
c.1883T= (p.Val628=)
c.1880T= (p.Val627=)
c.1655T= (p.Val552=)
n.2373T=
n.2387T=
2g.43877676C>ACA425908262ABCG8c.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
2g.43877676C=CA2493965066ABCG8c.1872C= (p.Val624=)
c.1869C= (p.Val623=)
c.1884C= (p.Val628=)
c.1881C= (p.Val627=)
c.1656C= (p.Val552=)
n.2374C=
n.2388C=
2g.43877676C>GCA46474371ABCG8c.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
2g.43877676C>TCA425908263ABCG8c.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
2g.43877677T>ACA346670990ABCG8c.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
2g.43877677T>CCA346670992ABCG8c.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
2g.43877677T>GCA346670991ABCG8c.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
2g.43877678C>ACA346670993ABCG8c.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
2g.43877678C=CA2493965067ABCG8c.1874C= (p.Ser625=)
c.1871C= (p.Ser624=)
c.1886C= (p.Ser629=)
c.1883C= (p.Ser628=)
c.1658C= (p.Ser553=)
n.2376C=
n.2390C=
2g.43877678C>GCA346670994ABCG8c.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
2g.43877678C>TCA346670995ABCG8c.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
2g.43877679A=CA2493965068ABCG8c.1875A= (p.Ser625=)
c.1872A= (p.Ser624=)
c.1887A= (p.Ser629=)
c.1884A= (p.Ser628=)
c.1659A= (p.Ser553=)
n.2377A=
n.2391A=
2g.43877679A>CCA425908264ABCG8c.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
2g.43877679A>GCA425908265ABCG8c.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
2g.43877679A>TCA425908266ABCG8c.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
2g.43877680G>ACA346670996ABCG8c.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
2g.43877680G>CCA346670997ABCG8c.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
2g.43877680G>TCA346670998ABCG8c.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
2g.43877681G>ACA346670999ABCG8c.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
2g.43877681G>CCA346671000ABCG8c.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
2g.43877681G=CA2493965069ABCG8c.1877G= (p.Gly626=)
c.1874G= (p.Gly625=)
c.1889G= (p.Gly630=)
c.1886G= (p.Gly629=)
c.1661G= (p.Gly554=)
n.2379G=
n.2393G=
2g.43877681G>TCA1637689ABCG8c.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
2g.43877682A>CCA425908267ABCG8c.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
2g.43877682A>GCA425908268ABCG8c.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
2g.43877682A>TCA425908269ABCG8c.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
2g.43877683G>ACA346671001ABCG8c.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
2g.43877683G>CCA346671002ABCG8c.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
2g.43877683G>TCA346671003ABCG8c.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
2g.43877684A=CA2493965070ABCG8c.1880A= (p.Asp627=)
c.1877A= (p.Asp626=)
c.1892A= (p.Asp631=)
c.1889A= (p.Asp630=)
c.1664A= (p.Asp555=)
n.2382A=
n.2396A=
2g.43877684A>CCA346671005ABCG8c.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
2g.43877684A>GCA1637690ABCG8c.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
2g.43877684A>TCA346671004ABCG8c.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
2g.43877685_43877686delCA2658838073ABCG8c.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
2g.43877685T>ACA346671006ABCG8c.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
2g.43877685T>CCA425908272ABCG8c.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
2g.43877685T>GCA346671007ABCG8c.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
2g.43877685T=CA2493965071ABCG8c.1881T= (p.Asp627=)
c.1878T= (p.Asp626=)
c.1893T= (p.Asp631=)
c.1890T= (p.Asp630=)
c.1665T= (p.Asp555=)
n.2383T=
n.2397T=
2g.43877686A>CCA346671008ABCG8c.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
2g.43877686A>GCA346671009ABCG8c.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
2g.43877686A>TCA346671010ABCG8c.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
2g.43877688dupCA2658838074ABCG8c.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

Number of alleles fetched