Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.16079375G>ACA394885028ABCC1c.2012G>A (p.Gly671Asp)
c.1886G>A (p.Gly629Asp)
c.1034G>A (p.Gly345Asp)
c.1707G>A
n.252G>A
c.1988G>A (p.Gly663Asp)
c.1919G>A (p.Gly640Asp)
c.2066G>A (p.Gly689Asp)
c.1940G>A (p.Gly647Asp)
c.1928G>A (p.Gly643Asp)
c.1802G>A (p.Gly601Asp)
16g.16079375G>CCA394885030ABCC1c.2012G>C (p.Gly671Ala)
c.1886G>C (p.Gly629Ala)
c.1034G>C (p.Gly345Ala)
c.1707G>C
n.252G>C
c.1988G>C (p.Gly663Ala)
c.1919G>C (p.Gly640Ala)
c.2066G>C (p.Gly689Ala)
c.1940G>C (p.Gly647Ala)
c.1928G>C (p.Gly643Ala)
c.1802G>C (p.Gly601Ala)
16g.16079375G=CA2210095472ABCC1c.2012G= (p.Gly671=)
c.1886G= (p.Gly629=)
c.1034G= (p.Gly345=)
c.1707G=
n.252G=
c.1988G= (p.Gly663=)
c.1919G= (p.Gly640=)
c.2066G= (p.Gly689=)
c.1940G= (p.Gly647=)
c.1928G= (p.Gly643=)
c.1802G= (p.Gly601=)
16g.16079375G>TCA7924154ABCC1c.2012G>T (p.Gly671Val)
c.1886G>T (p.Gly629Val)
c.1034G>T (p.Gly345Val)
c.1707G>T
n.252G>T
c.1988G>T (p.Gly663Val)
c.1919G>T (p.Gly640Val)
c.2066G>T (p.Gly689Val)
c.1940G>T (p.Gly647Val)
c.1928G>T (p.Gly643Val)
c.1802G>T (p.Gly601Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.16079376T>ACA493794841ABCC1c.2013T>A (p.Gly671=)
c.1887T>A (p.Gly629=)
c.1035T>A (p.Gly345=)
c.1708T>A
n.253T>A
c.1989T>A (p.Gly663=)
c.1920T>A (p.Gly640=)
c.2067T>A (p.Gly689=)
c.1941T>A (p.Gly647=)
c.1929T>A (p.Gly643=)
c.1803T>A (p.Gly601=)
16g.16079376T>CCA493794842ABCC1c.2013T>C (p.Gly671=)
c.1887T>C (p.Gly629=)
c.1035T>C (p.Gly345=)
c.1708T>C
n.253T>C
c.1989T>C (p.Gly663=)
c.1920T>C (p.Gly640=)
c.2067T>C (p.Gly689=)
c.1941T>C (p.Gly647=)
c.1929T>C (p.Gly643=)
c.1803T>C (p.Gly601=)
16g.16079376T>GCA493794843ABCC1c.2013T>G (p.Gly671=)
c.1887T>G (p.Gly629=)
c.1035T>G (p.Gly345=)
c.1708T>G
n.253T>G
c.1989T>G (p.Gly663=)
c.1920T>G (p.Gly640=)
c.2067T>G (p.Gly689=)
c.1941T>G (p.Gly647=)
c.1929T>G (p.Gly643=)
c.1803T>G (p.Gly601=)
16g.16079377G>ACA394885032ABCC1c.2014G>A (p.Ala672Thr)
c.1888G>A (p.Ala630Thr)
c.1036G>A (p.Ala346Thr)
c.1709G>A
n.254G>A
c.1990G>A (p.Ala664Thr)
c.1921G>A (p.Ala641Thr)
c.2068G>A (p.Ala690Thr)
c.1942G>A (p.Ala648Thr)
c.1930G>A (p.Ala644Thr)
c.1804G>A (p.Ala602Thr)
16g.16079377G>CCA394885034ABCC1c.2014G>C (p.Ala672Pro)
c.1888G>C (p.Ala630Pro)
c.1036G>C (p.Ala346Pro)
c.1709G>C
n.254G>C
c.1990G>C (p.Ala664Pro)
c.1921G>C (p.Ala641Pro)
c.2068G>C (p.Ala690Pro)
c.1942G>C (p.Ala648Pro)
c.1930G>C (p.Ala644Pro)
c.1804G>C (p.Ala602Pro)
16g.16079377G=CA2210095473ABCC1c.2014G= (p.Ala672=)
c.1888G= (p.Ala630=)
c.1036G= (p.Ala346=)
c.1709G=
n.254G=
c.1990G= (p.Ala664=)
c.1921G= (p.Ala641=)
c.2068G= (p.Ala690=)
c.1942G= (p.Ala648=)
c.1930G= (p.Ala644=)
c.1804G= (p.Ala602=)
16g.16079377G>TCA278635043ABCC1c.2014G>T (p.Ala672Ser)
c.1888G>T (p.Ala630Ser)
c.1036G>T (p.Ala346Ser)
c.1709G>T
n.254G>T
c.1990G>T (p.Ala664Ser)
c.1921G>T (p.Ala641Ser)
c.2068G>T (p.Ala690Ser)
c.1942G>T (p.Ala648Ser)
c.1930G>T (p.Ala644Ser)
c.1804G>T (p.Ala602Ser)
 dbSNP
16g.16079378C>ACA394885037ABCC1c.2015C>A (p.Ala672Asp)
c.1889C>A (p.Ala630Asp)
c.1037C>A (p.Ala346Asp)
c.1710C>A
n.255C>A
c.1991C>A (p.Ala664Asp)
c.1922C>A (p.Ala641Asp)
c.2069C>A (p.Ala690Asp)
c.1943C>A (p.Ala648Asp)
c.1931C>A (p.Ala644Asp)
c.1805C>A (p.Ala602Asp)
16g.16079378C=CA2210095474ABCC1c.2015C= (p.Ala672=)
c.1889C= (p.Ala630=)
c.1037C= (p.Ala346=)
c.1710C=
n.255C=
c.1991C= (p.Ala664=)
c.1922C= (p.Ala641=)
c.2069C= (p.Ala690=)
c.1943C= (p.Ala648=)
c.1931C= (p.Ala644=)
c.1805C= (p.Ala602=)
16g.16079378C>GCA394885039ABCC1c.2015C>G (p.Ala672Gly)
c.1889C>G (p.Ala630Gly)
c.1037C>G (p.Ala346Gly)
c.1710C>G
n.255C>G
c.1991C>G (p.Ala664Gly)
c.1922C>G (p.Ala641Gly)
c.2069C>G (p.Ala690Gly)
c.1943C>G (p.Ala648Gly)
c.1931C>G (p.Ala644Gly)
c.1805C>G (p.Ala602Gly)
16g.16079378C>TCA394885041ABCC1c.2015C>T (p.Ala672Val)
c.1889C>T (p.Ala630Val)
c.1037C>T (p.Ala346Val)
c.1710C>T
n.255C>T
c.1991C>T (p.Ala664Val)
c.1922C>T (p.Ala641Val)
c.2069C>T (p.Ala690Val)
c.1943C>T (p.Ala648Val)
c.1931C>T (p.Ala644Val)
c.1805C>T (p.Ala602Val)
 dbSNP gnomAD v3 gnomAD v4
16g.16079379T>ACA493794846ABCC1c.2016T>A (p.Ala672=)
c.1890T>A (p.Ala630=)
c.1038T>A (p.Ala346=)
c.1711T>A
n.256T>A
c.1992T>A (p.Ala664=)
c.1923T>A (p.Ala641=)
c.2070T>A (p.Ala690=)
c.1944T>A (p.Ala648=)
c.1932T>A (p.Ala644=)
c.1806T>A (p.Ala602=)
16g.16079379T>CCA493794844ABCC1c.2016T>C (p.Ala672=)
c.1890T>C (p.Ala630=)
c.1038T>C (p.Ala346=)
c.1711T>C
n.256T>C
c.1992T>C (p.Ala664=)
c.1923T>C (p.Ala641=)
c.2070T>C (p.Ala690=)
c.1944T>C (p.Ala648=)
c.1932T>C (p.Ala644=)
c.1806T>C (p.Ala602=)
16g.16079379T>GCA493794845ABCC1c.2016T>G (p.Ala672=)
c.1890T>G (p.Ala630=)
c.1038T>G (p.Ala346=)
c.1711T>G
n.256T>G
c.1992T>G (p.Ala664=)
c.1923T>G (p.Ala641=)
c.2070T>G (p.Ala690=)
c.1944T>G (p.Ala648=)
c.1932T>G (p.Ala644=)
c.1806T>G (p.Ala602=)
16g.16079380T>ACA394885043ABCC1c.2017T>A (p.Leu673Met)
c.1891T>A (p.Leu631Met)
c.1039T>A (p.Leu347Met)
c.1712T>A
n.257T>A
c.1993T>A (p.Leu665Met)
c.1924T>A (p.Leu642Met)
c.2071T>A (p.Leu691Met)
c.1945T>A (p.Leu649Met)
c.1933T>A (p.Leu645Met)
c.1807T>A (p.Leu603Met)
16g.16079380T>CCA7924155ABCC1c.2017T>C (p.Leu673=)
c.1891T>C (p.Leu631=)
c.1039T>C (p.Leu347=)
c.1712T>C
n.257T>C
c.1993T>C (p.Leu665=)
c.1924T>C (p.Leu642=)
c.2071T>C (p.Leu691=)
c.1945T>C (p.Leu649=)
c.1933T>C (p.Leu645=)
c.1807T>C (p.Leu603=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.16079380T>GCA394885046ABCC1c.2017T>G (p.Leu673Val)
c.1891T>G (p.Leu631Val)
c.1039T>G (p.Leu347Val)
c.1712T>G
n.257T>G
c.1993T>G (p.Leu665Val)
c.1924T>G (p.Leu642Val)
c.2071T>G (p.Leu691Val)
c.1945T>G (p.Leu649Val)
c.1933T>G (p.Leu645Val)
c.1807T>G (p.Leu603Val)
16g.16079380T=CA2210095475ABCC1c.2017T= (p.Leu673=)
c.1891T= (p.Leu631=)
c.1039T= (p.Leu347=)
c.1712T=
n.257T=
c.1993T= (p.Leu665=)
c.1924T= (p.Leu642=)
c.2071T= (p.Leu691=)
c.1945T= (p.Leu649=)
c.1933T= (p.Leu645=)
c.1807T= (p.Leu603=)
16g.16079381T>ACA394885048ABCC1c.2018T>A (p.Leu673Ter)
c.1892T>A (p.Leu631Ter)
c.1040T>A (p.Leu347Ter)
c.1713T>A
n.258T>A
c.1994T>A (p.Leu665Ter)
c.1925T>A (p.Leu642Ter)
c.2072T>A (p.Leu691Ter)
c.1946T>A (p.Leu649Ter)
c.1934T>A (p.Leu645Ter)
c.1808T>A (p.Leu603Ter)
16g.16079381T>CCA394885050ABCC1c.2018T>C (p.Leu673Ser)
c.1892T>C (p.Leu631Ser)
c.1040T>C (p.Leu347Ser)
c.1713T>C
n.258T>C
c.1994T>C (p.Leu665Ser)
c.1925T>C (p.Leu642Ser)
c.2072T>C (p.Leu691Ser)
c.1946T>C (p.Leu649Ser)
c.1934T>C (p.Leu645Ser)
c.1808T>C (p.Leu603Ser)
16g.16079381T>GCA394885052ABCC1c.2018T>G (p.Leu673Trp)
c.1892T>G (p.Leu631Trp)
c.1040T>G (p.Leu347Trp)
c.1713T>G
n.258T>G
c.1994T>G (p.Leu665Trp)
c.1925T>G (p.Leu642Trp)
c.2072T>G (p.Leu691Trp)
c.1946T>G (p.Leu649Trp)
c.1934T>G (p.Leu645Trp)
c.1808T>G (p.Leu603Trp)
16g.16079382G>ACA493794847ABCC1c.2019G>A (p.Leu673=)
c.1893G>A (p.Leu631=)
c.1041G>A (p.Leu347=)
c.1714G>A
n.259G>A
c.1995G>A (p.Leu665=)
c.1926G>A (p.Leu642=)
c.2073G>A (p.Leu691=)
c.1947G>A (p.Leu649=)
c.1935G>A (p.Leu645=)
c.1809G>A (p.Leu603=)
16g.16079382G>CCA394885056ABCC1c.2019G>C (p.Leu673Phe)
c.1893G>C (p.Leu631Phe)
c.1041G>C (p.Leu347Phe)
c.1714G>C
n.259G>C
c.1995G>C (p.Leu665Phe)
c.1926G>C (p.Leu642Phe)
c.2073G>C (p.Leu691Phe)
c.1947G>C (p.Leu649Phe)
c.1935G>C (p.Leu645Phe)
c.1809G>C (p.Leu603Phe)
16g.16079382G>TCA394885054ABCC1c.2019G>T (p.Leu673Phe)
c.1893G>T (p.Leu631Phe)
c.1041G>T (p.Leu347Phe)
c.1714G>T
n.259G>T
c.1995G>T (p.Leu665Phe)
c.1926G>T (p.Leu642Phe)
c.2073G>T (p.Leu691Phe)
c.1947G>T (p.Leu649Phe)
c.1935G>T (p.Leu645Phe)
c.1809G>T (p.Leu603Phe)
16g.16079383G>ACA394885058ABCC1c.2020G>A (p.Val674Met)
c.1894G>A (p.Val632Met)
c.1042G>A (p.Val348Met)
c.1715G>A
n.260G>A
c.1996G>A (p.Val666Met)
c.1927G>A (p.Val643Met)
c.2074G>A (p.Val692Met)
c.1948G>A (p.Val650Met)
c.1936G>A (p.Val646Met)
c.1810G>A (p.Val604Met)
16g.16079383G>CCA394885060ABCC1c.2020G>C (p.Val674Leu)
c.1894G>C (p.Val632Leu)
c.1042G>C (p.Val348Leu)
c.1715G>C
n.260G>C
c.1996G>C (p.Val666Leu)
c.1927G>C (p.Val643Leu)
c.2074G>C (p.Val692Leu)
c.1948G>C (p.Val650Leu)
c.1936G>C (p.Val646Leu)
c.1810G>C (p.Val604Leu)
 dbSNP gnomAD v4
16g.16079383G=CA2210095476ABCC1c.2020G= (p.Val674=)
c.1894G= (p.Val632=)
c.1042G= (p.Val348=)
c.1715G=
n.260G=
c.1996G= (p.Val666=)
c.1927G= (p.Val643=)
c.2074G= (p.Val692=)
c.1948G= (p.Val650=)
c.1936G= (p.Val646=)
c.1810G= (p.Val604=)
16g.16079383G>TCA394885062ABCC1c.2020G>T (p.Val674Leu)
c.1894G>T (p.Val632Leu)
c.1042G>T (p.Val348Leu)
c.1715G>T
n.260G>T
c.1996G>T (p.Val666Leu)
c.1927G>T (p.Val643Leu)
c.2074G>T (p.Val692Leu)
c.1948G>T (p.Val650Leu)
c.1936G>T (p.Val646Leu)
c.1810G>T (p.Val604Leu)
16g.16079384T>ACA394885064ABCC1c.2021T>A (p.Val674Glu)
c.1895T>A (p.Val632Glu)
c.1043T>A (p.Val348Glu)
c.1716T>A
n.261T>A
c.1997T>A (p.Val666Glu)
c.1928T>A (p.Val643Glu)
c.2075T>A (p.Val692Glu)
c.1949T>A (p.Val650Glu)
c.1937T>A (p.Val646Glu)
c.1811T>A (p.Val604Glu)
16g.16079384T>CCA394885066ABCC1c.2021T>C (p.Val674Ala)
c.1895T>C (p.Val632Ala)
c.1043T>C (p.Val348Ala)
c.1716T>C
n.261T>C
c.1997T>C (p.Val666Ala)
c.1928T>C (p.Val643Ala)
c.2075T>C (p.Val692Ala)
c.1949T>C (p.Val650Ala)
c.1937T>C (p.Val646Ala)
c.1811T>C (p.Val604Ala)
16g.16079384T>GCA394885068ABCC1c.2021T>G (p.Val674Gly)
c.1895T>G (p.Val632Gly)
c.1043T>G (p.Val348Gly)
c.1716T>G
n.261T>G
c.1997T>G (p.Val666Gly)
c.1928T>G (p.Val643Gly)
c.2075T>G (p.Val692Gly)
c.1949T>G (p.Val650Gly)
c.1937T>G (p.Val646Gly)
c.1811T>G (p.Val604Gly)
16g.16079385G>ACA493794850ABCC1c.2022G>A (p.Val674=)
c.1896G>A (p.Val632=)
c.1044G>A (p.Val348=)
c.1717G>A
n.262G>A
c.1998G>A (p.Val666=)
c.1929G>A (p.Val643=)
c.2076G>A (p.Val692=)
c.1950G>A (p.Val650=)
c.1938G>A (p.Val646=)
c.1812G>A (p.Val604=)
16g.16079385G>CCA493794848ABCC1c.2022G>C (p.Val674=)
c.1896G>C (p.Val632=)
c.1044G>C (p.Val348=)
c.1717G>C
n.262G>C
c.1998G>C (p.Val666=)
c.1929G>C (p.Val643=)
c.2076G>C (p.Val692=)
c.1950G>C (p.Val650=)
c.1938G>C (p.Val646=)
c.1812G>C (p.Val604=)
16g.16079385G>TCA493794849ABCC1c.2022G>T (p.Val674=)
c.1896G>T (p.Val632=)
c.1044G>T (p.Val348=)
c.1717G>T
n.262G>T
c.1998G>T (p.Val666=)
c.1929G>T (p.Val643=)
c.2076G>T (p.Val692=)
c.1950G>T (p.Val650=)
c.1938G>T (p.Val646=)
c.1812G>T (p.Val604=)
 COSMIC COSMIC
16g.16079386G>ACA394885070ABCC1c.2023G>A (p.Ala675Thr)
c.1897G>A (p.Ala633Thr)
c.1045G>A (p.Ala349Thr)
c.1718G>A
n.263G>A
c.1999G>A (p.Ala667Thr)
c.1930G>A (p.Ala644Thr)
c.2077G>A (p.Ala693Thr)
c.1951G>A (p.Ala651Thr)
c.1939G>A (p.Ala647Thr)
c.1813G>A (p.Ala605Thr)
16g.16079386G>CCA394885072ABCC1c.2023G>C (p.Ala675Pro)
c.1897G>C (p.Ala633Pro)
c.1045G>C (p.Ala349Pro)
c.1718G>C
n.263G>C
c.1999G>C (p.Ala667Pro)
c.1930G>C (p.Ala644Pro)
c.2077G>C (p.Ala693Pro)
c.1951G>C (p.Ala651Pro)
c.1939G>C (p.Ala647Pro)
c.1813G>C (p.Ala605Pro)
16g.16079386G=CA2210095477ABCC1c.2023G= (p.Ala675=)
c.1897G= (p.Ala633=)
c.1045G= (p.Ala349=)
c.1718G=
n.263G=
c.1999G= (p.Ala667=)
c.1930G= (p.Ala644=)
c.2077G= (p.Ala693=)
c.1951G= (p.Ala651=)
c.1939G= (p.Ala647=)
c.1813G= (p.Ala605=)
16g.16079386G>TCA394885073ABCC1c.2023G>T (p.Ala675Ser)
c.1897G>T (p.Ala633Ser)
c.1045G>T (p.Ala349Ser)
c.1718G>T
n.263G>T
c.1999G>T (p.Ala667Ser)
c.1930G>T (p.Ala644Ser)
c.2077G>T (p.Ala693Ser)
c.1951G>T (p.Ala651Ser)
c.1939G>T (p.Ala647Ser)
c.1813G>T (p.Ala605Ser)
 dbSNP gnomAD v4
16g.16079387C>ACA394885075ABCC1c.2024C>A (p.Ala675Asp)
c.1898C>A (p.Ala633Asp)
c.1046C>A (p.Ala349Asp)
c.1719C>A
n.264C>A
c.2000C>A (p.Ala667Asp)
c.1931C>A (p.Ala644Asp)
c.2078C>A (p.Ala693Asp)
c.1952C>A (p.Ala651Asp)
c.1940C>A (p.Ala647Asp)
c.1814C>A (p.Ala605Asp)
16g.16079387C>GCA394885077ABCC1c.2024C>G (p.Ala675Gly)
c.1898C>G (p.Ala633Gly)
c.1046C>G (p.Ala349Gly)
c.1719C>G
n.264C>G
c.2000C>G (p.Ala667Gly)
c.1931C>G (p.Ala644Gly)
c.2078C>G (p.Ala693Gly)
c.1952C>G (p.Ala651Gly)
c.1940C>G (p.Ala647Gly)
c.1814C>G (p.Ala605Gly)
16g.16079387C>TCA394885079ABCC1c.2024C>T (p.Ala675Val)
c.1898C>T (p.Ala633Val)
c.1046C>T (p.Ala349Val)
c.1719C>T
n.264C>T
c.2000C>T (p.Ala667Val)
c.1931C>T (p.Ala644Val)
c.2078C>T (p.Ala693Val)
c.1952C>T (p.Ala651Val)
c.1940C>T (p.Ala647Val)
c.1814C>T (p.Ala605Val)
 dbSNP
16g.16079388C>ACA7924157ABCC1c.2025C>A (p.Ala675=)
c.1899C>A (p.Ala633=)
c.1047C>A (p.Ala349=)
c.1720C>A
n.265C>A
c.2001C>A (p.Ala667=)
c.1932C>A (p.Ala644=)
c.2079C>A (p.Ala693=)
c.1953C>A (p.Ala651=)
c.1941C>A (p.Ala647=)
c.1815C>A (p.Ala605=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.16079388C=CA2210095478ABCC1c.2025C= (p.Ala675=)
c.1899C= (p.Ala633=)
c.1047C= (p.Ala349=)
c.1720C=
n.265C=
c.2001C= (p.Ala667=)
c.1932C= (p.Ala644=)
c.2079C= (p.Ala693=)
c.1953C= (p.Ala651=)
c.1941C= (p.Ala647=)
c.1815C= (p.Ala605=)
16g.16079388C>GCA493794851ABCC1c.2025C>G (p.Ala675=)
c.1899C>G (p.Ala633=)
c.1047C>G (p.Ala349=)
c.1720C>G
n.265C>G
c.2001C>G (p.Ala667=)
c.1932C>G (p.Ala644=)
c.2079C>G (p.Ala693=)
c.1953C>G (p.Ala651=)
c.1941C>G (p.Ala647=)
c.1815C>G (p.Ala605=)
16g.16079388C>TCA7924156ABCC1c.2025C>T (p.Ala675=)
c.1899C>T (p.Ala633=)
c.1047C>T (p.Ala349=)
c.1720C>T
n.265C>T
c.2001C>T (p.Ala667=)
c.1932C>T (p.Ala644=)
c.2079C>T (p.Ala693=)
c.1953C>T (p.Ala651=)
c.1941C>T (p.Ala647=)
c.1815C>T (p.Ala605=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.16079389G>ACA7924158ABCC1c.2026G>A (p.Val676Met)
c.1900G>A (p.Val634Met)
c.1048G>A (p.Val350Met)
c.1721G>A
n.266G>A
c.2002G>A (p.Val668Met)
c.1933G>A (p.Val645Met)
c.2080G>A (p.Val694Met)
c.1954G>A (p.Val652Met)
c.1942G>A (p.Val648Met)
c.1816G>A (p.Val606Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched