Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.43877815G>ACA1637726ABCG8c.1924G>A (p.Ala642Thr)
c.1921G>A (p.Ala641Thr)
c.1936G>A (p.Ala646Thr)
c.1933G>A (p.Ala645Thr)
c.1708G>A (p.Ala570Thr)
n.2426G>A
n.2440G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877815G>CCA346671294ABCG8c.1924G>C (p.Ala642Pro)
c.1921G>C (p.Ala641Pro)
c.1936G>C (p.Ala646Pro)
c.1933G>C (p.Ala645Pro)
c.1708G>C (p.Ala570Pro)
n.2426G>C
n.2440G>C
2g.43877815G=CA2493965144ABCG8c.1924G= (p.Ala642=)
c.1921G= (p.Ala641=)
c.1936G= (p.Ala646=)
c.1933G= (p.Ala645=)
c.1708G= (p.Ala570=)
n.2426G=
n.2440G=
2g.43877815G>TCA346671292ABCG8c.1924G>T (p.Ala642Ser)
c.1921G>T (p.Ala641Ser)
c.1936G>T (p.Ala646Ser)
c.1933G>T (p.Ala645Ser)
c.1708G>T (p.Ala570Ser)
n.2426G>T
n.2440G>T
 ClinVar
2g.43877815dupCA532288643ABCG8c.1924dup (p.Ala642GlyfsTer?)
c.1921dup (p.Ala641GlyfsTer?)
c.1936dup (p.Ala646GlyfsTer?)
c.1933dup (p.Ala645GlyfsTer?)
c.1708dup (p.Ala570GlyfsTer?)
n.2426dup
n.2440dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877816C>ACA346671295ABCG8c.1925C>A (p.Ala642Asp)
c.1922C>A (p.Ala641Asp)
c.1937C>A (p.Ala646Asp)
c.1934C>A (p.Ala645Asp)
c.1709C>A (p.Ala570Asp)
n.2427C>A
n.2441C>A
 gnomAD v4
2g.43877816C=CA2493965145ABCG8c.1925C= (p.Ala642=)
c.1922C= (p.Ala641=)
c.1937C= (p.Ala646=)
c.1934C= (p.Ala645=)
c.1709C= (p.Ala570=)
n.2427C=
n.2441C=
2g.43877816C>GCA46474732ABCG8c.1925C>G (p.Ala642Gly)
c.1922C>G (p.Ala641Gly)
c.1937C>G (p.Ala646Gly)
c.1934C>G (p.Ala645Gly)
c.1709C>G (p.Ala570Gly)
n.2427C>G
n.2441C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877816C>TCA346671297ABCG8c.1925C>T (p.Ala642Val)
c.1922C>T (p.Ala641Val)
c.1937C>T (p.Ala646Val)
c.1934C>T (p.Ala645Val)
c.1709C>T (p.Ala570Val)
n.2427C>T
n.2441C>T
2g.43877817C>ACA425908303ABCG8c.1926C>A (p.Ala642=)
c.1923C>A (p.Ala641=)
c.1938C>A (p.Ala646=)
c.1935C>A (p.Ala645=)
c.1710C>A (p.Ala570=)
n.2428C>A
n.2442C>A
 gnomAD v4
2g.43877817C=CA2493965146ABCG8c.1926C= (p.Ala642=)
c.1923C= (p.Ala641=)
c.1938C= (p.Ala646=)
c.1935C= (p.Ala645=)
c.1710C= (p.Ala570=)
n.2428C=
n.2442C=
2g.43877817C>GCA425908304ABCG8c.1926C>G (p.Ala642=)
c.1923C>G (p.Ala641=)
c.1938C>G (p.Ala646=)
c.1935C>G (p.Ala645=)
c.1710C>G (p.Ala570=)
n.2428C>G
n.2442C>G
2g.43877817C>TCA425908305ABCG8c.1926C>T (p.Ala642=)
c.1923C>T (p.Ala641=)
c.1938C>T (p.Ala646=)
c.1935C>T (p.Ala645=)
c.1710C>T (p.Ala570=)
n.2428C>T
n.2442C>T
 dbSNP gnomAD v3 gnomAD v4
2g.43877818A=CA2493965147ABCG8c.1927A= (p.Ile643=)
c.1924A= (p.Ile642=)
c.1939A= (p.Ile647=)
c.1936A= (p.Ile646=)
c.1711A= (p.Ile571=)
n.2429A=
n.2443A=
2g.43877818A>CCA346671300ABCG8c.1927A>C (p.Ile643Leu)
c.1924A>C (p.Ile642Leu)
c.1939A>C (p.Ile647Leu)
c.1936A>C (p.Ile646Leu)
c.1711A>C (p.Ile571Leu)
n.2429A>C
n.2443A>C
2g.43877818A>GCA46474739ABCG8c.1927A>G (p.Ile643Val)
c.1924A>G (p.Ile642Val)
c.1939A>G (p.Ile647Val)
c.1936A>G (p.Ile646Val)
c.1711A>G (p.Ile571Val)
n.2429A>G
n.2443A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877818A>TCA346671302ABCG8c.1927A>T (p.Ile643Phe)
c.1924A>T (p.Ile642Phe)
c.1939A>T (p.Ile647Phe)
c.1936A>T (p.Ile646Phe)
c.1711A>T (p.Ile571Phe)
n.2429A>T
n.2443A>T
 dbSNP
2g.43877819T>ACA346671305ABCG8c.1928T>A (p.Ile643Asn)
c.1925T>A (p.Ile642Asn)
c.1940T>A (p.Ile647Asn)
c.1937T>A (p.Ile646Asn)
c.1712T>A (p.Ile571Asn)
n.2430T>A
n.2444T>A
2g.43877819T>CCA346671307ABCG8c.1928T>C (p.Ile643Thr)
c.1925T>C (p.Ile642Thr)
c.1940T>C (p.Ile647Thr)
c.1937T>C (p.Ile646Thr)
c.1712T>C (p.Ile571Thr)
n.2430T>C
n.2444T>C
 COSMIC
2g.43877819T>GCA346671308ABCG8c.1928T>G (p.Ile643Ser)
c.1925T>G (p.Ile642Ser)
c.1940T>G (p.Ile647Ser)
c.1937T>G (p.Ile646Ser)
c.1712T>G (p.Ile571Ser)
n.2430T>G
n.2444T>G
2g.43877821_43877841dupCA2658838101ABCG8c.1930_1950dup (p.Leu650_Ser651insTyrLeuIleValIleGlyLeu)
c.1927_1947dup (p.Leu649_Ser650insTyrLeuIleValIleGlyLeu)
c.1942_1962dup (p.Leu654_Ser655insTyrLeuIleValIleGlyLeu)
c.1939_1959dup (p.Leu653_Ser654insTyrLeuIleValIleGlyLeu)
c.1714_1734dup (p.Leu578_Ser579insTyrLeuIleValIleGlyLeu)
n.2432_2452dup
n.2446_2466dup
 gnomAD v4
2g.43877820C>ACA425908306ABCG8c.1929C>A (p.Ile643=)
c.1926C>A (p.Ile642=)
c.1941C>A (p.Ile647=)
c.1938C>A (p.Ile646=)
c.1713C>A (p.Ile571=)
n.2431C>A
n.2445C>A
2g.43877820C>GCA346671310ABCG8c.1929C>G (p.Ile643Met)
c.1926C>G (p.Ile642Met)
c.1941C>G (p.Ile647Met)
c.1938C>G (p.Ile646Met)
c.1713C>G (p.Ile571Met)
n.2431C>G
n.2445C>G
 gnomAD v4
2g.43877820C>TCA425908307ABCG8c.1929C>T (p.Ile643=)
c.1926C>T (p.Ile642=)
c.1941C>T (p.Ile647=)
c.1938C>T (p.Ile646=)
c.1713C>T (p.Ile571=)
n.2431C>T
n.2445C>T
2g.43877821T>ACA346671312ABCG8c.1930T>A (p.Tyr644Asn)
c.1927T>A (p.Tyr643Asn)
c.1942T>A (p.Tyr648Asn)
c.1939T>A (p.Tyr647Asn)
c.1714T>A (p.Tyr572Asn)
n.2432T>A
n.2446T>A
2g.43877821T>CCA346671314ABCG8c.1930T>C (p.Tyr644His)
c.1927T>C (p.Tyr643His)
c.1942T>C (p.Tyr648His)
c.1939T>C (p.Tyr647His)
c.1714T>C (p.Tyr572His)
n.2432T>C
n.2446T>C
2g.43877821T>GCA346671315ABCG8c.1930T>G (p.Tyr644Asp)
c.1927T>G (p.Tyr643Asp)
c.1942T>G (p.Tyr648Asp)
c.1939T>G (p.Tyr647Asp)
c.1714T>G (p.Tyr572Asp)
n.2432T>G
n.2446T>G
2g.43877822A=CA2493965148ABCG8c.1931A= (p.Tyr644=)
c.1928A= (p.Tyr643=)
c.1943A= (p.Tyr648=)
c.1940A= (p.Tyr647=)
c.1715A= (p.Tyr572=)
n.2433A=
n.2447A=
2g.43877822A>CCA346671317ABCG8c.1931A>C (p.Tyr644Ser)
c.1928A>C (p.Tyr643Ser)
c.1943A>C (p.Tyr648Ser)
c.1940A>C (p.Tyr647Ser)
c.1715A>C (p.Tyr572Ser)
n.2433A>C
n.2447A>C
2g.43877822A>GCA1637727ABCG8c.1931A>G (p.Tyr644Cys)
c.1928A>G (p.Tyr643Cys)
c.1943A>G (p.Tyr648Cys)
c.1940A>G (p.Tyr647Cys)
c.1715A>G (p.Tyr572Cys)
n.2433A>G
n.2447A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877822A>TCA346671319ABCG8c.1931A>T (p.Tyr644Phe)
c.1928A>T (p.Tyr643Phe)
c.1943A>T (p.Tyr648Phe)
c.1940A>T (p.Tyr647Phe)
c.1715A>T (p.Tyr572Phe)
n.2433A>T
n.2447A>T
2g.43877823C>ACA346671323ABCG8c.1932C>A (p.Tyr644Ter)
c.1929C>A (p.Tyr643Ter)
c.1944C>A (p.Tyr648Ter)
c.1941C>A (p.Tyr647Ter)
c.1716C>A (p.Tyr572Ter)
n.2434C>A
n.2448C>A
2g.43877823C>GCA346671321ABCG8c.1932C>G (p.Tyr644Ter)
c.1929C>G (p.Tyr643Ter)
c.1944C>G (p.Tyr648Ter)
c.1941C>G (p.Tyr647Ter)
c.1716C>G (p.Tyr572Ter)
n.2434C>G
n.2448C>G
2g.43877823C>TCA425908308ABCG8c.1932C>T (p.Tyr644=)
c.1929C>T (p.Tyr643=)
c.1944C>T (p.Tyr648=)
c.1941C>T (p.Tyr647=)
c.1716C>T (p.Tyr572=)
n.2434C>T
n.2448C>T
2g.43877824C>ACA346671324ABCG8c.1933C>A (p.Leu645Ile)
c.1930C>A (p.Leu644Ile)
c.1945C>A (p.Leu649Ile)
c.1942C>A (p.Leu648Ile)
c.1717C>A (p.Leu573Ile)
n.2435C>A
n.2449C>A
2g.43877824C>GCA346671326ABCG8c.1933C>G (p.Leu645Val)
c.1930C>G (p.Leu644Val)
c.1945C>G (p.Leu649Val)
c.1942C>G (p.Leu648Val)
c.1717C>G (p.Leu573Val)
n.2435C>G
n.2449C>G
2g.43877824C>TCA346671328ABCG8c.1933C>T (p.Leu645Phe)
c.1930C>T (p.Leu644Phe)
c.1945C>T (p.Leu649Phe)
c.1942C>T (p.Leu648Phe)
c.1717C>T (p.Leu573Phe)
n.2435C>T
n.2449C>T
2g.43877825T>ACA346671329ABCG8c.1934T>A (p.Leu645His)
c.1931T>A (p.Leu644His)
c.1946T>A (p.Leu649His)
c.1943T>A (p.Leu648His)
c.1718T>A (p.Leu573His)
n.2436T>A
n.2450T>A
2g.43877825T>CCA346671331ABCG8c.1934T>C (p.Leu645Pro)
c.1931T>C (p.Leu644Pro)
c.1946T>C (p.Leu649Pro)
c.1943T>C (p.Leu648Pro)
c.1718T>C (p.Leu573Pro)
n.2436T>C
n.2450T>C
 dbSNP gnomAD v2 gnomAD v4
2g.43877825T>GCA346671333ABCG8c.1934T>G (p.Leu645Arg)
c.1931T>G (p.Leu644Arg)
c.1946T>G (p.Leu649Arg)
c.1943T>G (p.Leu648Arg)
c.1718T>G (p.Leu573Arg)
n.2436T>G
n.2450T>G
2g.43877825T=CA2493965149ABCG8c.1934T= (p.Leu645=)
c.1931T= (p.Leu644=)
c.1946T= (p.Leu649=)
c.1943T= (p.Leu648=)
c.1718T= (p.Leu573=)
n.2436T=
n.2450T=
2g.43877826C>ACA425908309ABCG8c.1935C>A (p.Leu645=)
c.1932C>A (p.Leu644=)
c.1947C>A (p.Leu649=)
c.1944C>A (p.Leu648=)
c.1719C>A (p.Leu573=)
n.2437C>A
n.2451C>A
2g.43877826C>GCA425908311ABCG8c.1935C>G (p.Leu645=)
c.1932C>G (p.Leu644=)
c.1947C>G (p.Leu649=)
c.1944C>G (p.Leu648=)
c.1719C>G (p.Leu573=)
n.2437C>G
n.2451C>G
2g.43877826C>TCA425908310ABCG8c.1935C>T (p.Leu645=)
c.1932C>T (p.Leu644=)
c.1947C>T (p.Leu649=)
c.1944C>T (p.Leu648=)
c.1719C>T (p.Leu573=)
n.2437C>T
n.2451C>T
 gnomAD v4
2g.43877827A=CA2493965150ABCG8c.1936A= (p.Ile646=)
c.1933A= (p.Ile645=)
c.1948A= (p.Ile650=)
c.1945A= (p.Ile649=)
c.1720A= (p.Ile574=)
n.2438A=
n.2452A=
2g.43877827A>CCA346671335ABCG8c.1936A>C (p.Ile646Leu)
c.1933A>C (p.Ile645Leu)
c.1948A>C (p.Ile650Leu)
c.1945A>C (p.Ile649Leu)
c.1720A>C (p.Ile574Leu)
n.2438A>C
n.2452A>C
 gnomAD v4
2g.43877827A>GCA346671336ABCG8c.1936A>G (p.Ile646Val)
c.1933A>G (p.Ile645Val)
c.1948A>G (p.Ile650Val)
c.1945A>G (p.Ile649Val)
c.1720A>G (p.Ile574Val)
n.2438A>G
n.2452A>G
 dbSNP gnomAD v2 gnomAD v4
2g.43877827A>TCA346671338ABCG8c.1936A>T (p.Ile646Phe)
c.1933A>T (p.Ile645Phe)
c.1948A>T (p.Ile650Phe)
c.1945A>T (p.Ile649Phe)
c.1720A>T (p.Ile574Phe)
n.2438A>T
n.2452A>T
2g.43877828T>ACA346671340ABCG8c.1937T>A (p.Ile646Asn)
c.1934T>A (p.Ile645Asn)
c.1949T>A (p.Ile650Asn)
c.1946T>A (p.Ile649Asn)
c.1721T>A (p.Ile574Asn)
n.2439T>A
n.2453T>A
2g.43877828T>CCA346671342ABCG8c.1937T>C (p.Ile646Thr)
c.1934T>C (p.Ile645Thr)
c.1949T>C (p.Ile650Thr)
c.1946T>C (p.Ile649Thr)
c.1721T>C (p.Ile574Thr)
n.2439T>C
n.2453T>C
2g.43877828T>GCA346671344ABCG8c.1937T>G (p.Ile646Ser)
c.1934T>G (p.Ile645Ser)
c.1949T>G (p.Ile650Ser)
c.1946T>G (p.Ile649Ser)
c.1721T>G (p.Ile574Ser)
n.2439T>G
n.2453T>G
2g.43877828_43877829delinsTCCA2493965151ABCG8c.1937_1938delinsTC (p.Ile646=)
c.1934_1935delinsTC (p.Ile645=)
c.1949_1950delinsTC (p.Ile650=)
c.1946_1947delinsTC (p.Ile649=)
c.1721_1722delinsTC (p.Ile574=)
n.2439_2440delinsTC
n.2453_2454delinsTC
2g.43877829delCA769091768ABCG8c.1938del (p.Ile646MetfsTer17)
c.1935del (p.Ile645MetfsTer17)
c.1950del (p.Ile650MetfsTer17)
c.1947del (p.Ile649MetfsTer17)
c.1722del (p.Ile574MetfsTer17)
n.2440del
n.2454del
 dbSNP
2g.43877829C>ACA425908312ABCG8c.1938C>A (p.Ile646=)
c.1935C>A (p.Ile645=)
c.1950C>A (p.Ile650=)
c.1947C>A (p.Ile649=)
c.1722C>A (p.Ile574=)
n.2440C>A
n.2454C>A
2g.43877829C>GCA346671345ABCG8c.1938C>G (p.Ile646Met)
c.1935C>G (p.Ile645Met)
c.1950C>G (p.Ile650Met)
c.1947C>G (p.Ile649Met)
c.1722C>G (p.Ile574Met)
n.2440C>G
n.2454C>G
2g.43877829C>TCA425908313ABCG8c.1938C>T (p.Ile646=)
c.1935C>T (p.Ile645=)
c.1950C>T (p.Ile650=)
c.1947C>T (p.Ile649=)
c.1722C>T (p.Ile574=)
n.2440C>T
n.2454C>T
 COSMIC
2g.43877829_43877830delinsTCA2580066526ABCG8c.1938_1939delinsT (p.Val647SerfsTer16)
c.1935_1936delinsT (p.Val646SerfsTer16)
c.1950_1951delinsT (p.Val651SerfsTer16)
c.1947_1948delinsT (p.Val650SerfsTer16)
c.1722_1723delinsT (p.Val575SerfsTer16)
n.2440_2441delinsT
n.2454_2455delinsT
 ClinVar
2g.43877830G>ACA346671347ABCG8c.1939G>A (p.Val647Ile)
c.1936G>A (p.Val646Ile)
c.1951G>A (p.Val651Ile)
c.1948G>A (p.Val650Ile)
c.1723G>A (p.Val575Ile)
n.2441G>A
n.2455G>A
 dbSNP gnomAD v4
2g.43877830G>CCA346671351ABCG8c.1939G>C (p.Val647Leu)
c.1936G>C (p.Val646Leu)
c.1951G>C (p.Val651Leu)
c.1948G>C (p.Val650Leu)
c.1723G>C (p.Val575Leu)
n.2441G>C
n.2455G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877830G=CA2493965152ABCG8c.1939G= (p.Val647=)
c.1936G= (p.Val646=)
c.1951G= (p.Val651=)
c.1948G= (p.Val650=)
c.1723G= (p.Val575=)
n.2441G=
n.2455G=
2g.43877830G>TCA346671349ABCG8c.1939G>T (p.Val647Phe)
c.1936G>T (p.Val646Phe)
c.1951G>T (p.Val651Phe)
c.1948G>T (p.Val650Phe)
c.1723G>T (p.Val575Phe)
n.2441G>T
n.2455G>T
 dbSNP
2g.43877831T>ACA346671353ABCG8c.1940T>A (p.Val647Asp)
c.1937T>A (p.Val646Asp)
c.1952T>A (p.Val651Asp)
c.1949T>A (p.Val650Asp)
c.1724T>A (p.Val575Asp)
n.2442T>A
n.2456T>A
2g.43877831T>CCA346671355ABCG8c.1940T>C (p.Val647Ala)
c.1937T>C (p.Val646Ala)
c.1952T>C (p.Val651Ala)
c.1949T>C (p.Val650Ala)
c.1724T>C (p.Val575Ala)
n.2442T>C
n.2456T>C
2g.43877831T>GCA346671357ABCG8c.1940T>G (p.Val647Gly)
c.1937T>G (p.Val646Gly)
c.1952T>G (p.Val651Gly)
c.1949T>G (p.Val650Gly)
c.1724T>G (p.Val575Gly)
n.2442T>G
n.2456T>G
2g.43877832C>ACA425908314ABCG8c.1941C>A (p.Val647=)
c.1938C>A (p.Val646=)
c.1953C>A (p.Val651=)
c.1950C>A (p.Val650=)
c.1725C>A (p.Val575=)
n.2443C>A
n.2457C>A
2g.43877832C=CA2493965153ABCG8c.1941C= (p.Val647=)
c.1938C= (p.Val646=)
c.1953C= (p.Val651=)
c.1950C= (p.Val650=)
c.1725C= (p.Val575=)
n.2443C=
n.2457C=
2g.43877832C>GCA1637728ABCG8c.1941C>G (p.Val647=)
c.1938C>G (p.Val646=)
c.1953C>G (p.Val651=)
c.1950C>G (p.Val650=)
c.1725C>G (p.Val575=)
n.2443C>G
n.2457C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877832C>TCA425908315ABCG8c.1941C>T (p.Val647=)
c.1938C>T (p.Val646=)
c.1953C>T (p.Val651=)
c.1950C>T (p.Val650=)
c.1725C>T (p.Val575=)
n.2443C>T
n.2457C>T
 ClinVar dbSNP gnomAD v4
2g.43877833A>CCA346671360ABCG8c.1942A>C (p.Ile648Leu)
c.1939A>C (p.Ile647Leu)
c.1954A>C (p.Ile652Leu)
c.1951A>C (p.Ile651Leu)
c.1726A>C (p.Ile576Leu)
n.2444A>C
n.2458A>C
 gnomAD v4
2g.43877833A>GCA346671362ABCG8c.1942A>G (p.Ile648Val)
c.1939A>G (p.Ile647Val)
c.1954A>G (p.Ile652Val)
c.1951A>G (p.Ile651Val)
c.1726A>G (p.Ile576Val)
n.2444A>G
n.2458A>G
2g.43877833A>TCA346671363ABCG8c.1942A>T (p.Ile648Phe)
c.1939A>T (p.Ile647Phe)
c.1954A>T (p.Ile652Phe)
c.1951A>T (p.Ile651Phe)
c.1726A>T (p.Ile576Phe)
n.2444A>T
n.2458A>T
2g.43877834T>ACA346671366ABCG8c.1943T>A (p.Ile648Asn)
c.1940T>A (p.Ile647Asn)
c.1955T>A (p.Ile652Asn)
c.1952T>A (p.Ile651Asn)
c.1727T>A (p.Ile576Asn)
n.2445T>A
n.2459T>A
2g.43877834T>CCA346671367ABCG8c.1943T>C (p.Ile648Thr)
c.1940T>C (p.Ile647Thr)
c.1955T>C (p.Ile652Thr)
c.1952T>C (p.Ile651Thr)
c.1727T>C (p.Ile576Thr)
n.2445T>C
n.2459T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877834T>GCA346671369ABCG8c.1943T>G (p.Ile648Ser)
c.1940T>G (p.Ile647Ser)
c.1955T>G (p.Ile652Ser)
c.1952T>G (p.Ile651Ser)
c.1727T>G (p.Ile576Ser)
n.2445T>G
n.2459T>G
2g.43877834T=CA2493965154ABCG8c.1943T= (p.Ile648=)
c.1940T= (p.Ile647=)
c.1955T= (p.Ile652=)
c.1952T= (p.Ile651=)
c.1727T= (p.Ile576=)
n.2445T=
n.2459T=
2g.43877835T>ACA425908316ABCG8c.1944T>A (p.Ile648=)
c.1941T>A (p.Ile647=)
c.1956T>A (p.Ile652=)
c.1953T>A (p.Ile651=)
c.1728T>A (p.Ile576=)
n.2446T>A
n.2460T>A
2g.43877835T>CCA425908317ABCG8c.1944T>C (p.Ile648=)
c.1941T>C (p.Ile647=)
c.1956T>C (p.Ile652=)
c.1953T>C (p.Ile651=)
c.1728T>C (p.Ile576=)
n.2446T>C
n.2460T>C
2g.43877835T>GCA346671371ABCG8c.1944T>G (p.Ile648Met)
c.1941T>G (p.Ile647Met)
c.1956T>G (p.Ile652Met)
c.1953T>G (p.Ile651Met)
c.1728T>G (p.Ile576Met)
n.2446T>G
n.2460T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877835T=CA2493965155ABCG8c.1944T= (p.Ile648=)
c.1941T= (p.Ile647=)
c.1956T= (p.Ile652=)
c.1953T= (p.Ile651=)
c.1728T= (p.Ile576=)
n.2446T=
n.2460T=
2g.43877839_43877850delCA2658838102ABCG8c.1948_1959del (p.Leu650_Gly653del)
c.1945_1956del (p.Leu649_Gly652del)
c.1960_1971del (p.Leu654_Gly657del)
c.1957_1968del (p.Leu653_Gly656del)
c.1732_1743del (p.Leu578_Gly581del)
n.2450_2461del
n.2464_2475del
 gnomAD v4
2g.43877836G>ACA346671377ABCG8c.1945G>A (p.Gly649Ser)
c.1942G>A (p.Gly648Ser)
c.1957G>A (p.Gly653Ser)
c.1954G>A (p.Gly652Ser)
c.1729G>A (p.Gly577Ser)
n.2447G>A
n.2461G>A
2g.43877836G>CCA346671376ABCG8c.1945G>C (p.Gly649Arg)
c.1942G>C (p.Gly648Arg)
c.1957G>C (p.Gly653Arg)
c.1954G>C (p.Gly652Arg)
c.1729G>C (p.Gly577Arg)
n.2447G>C
n.2461G>C
2g.43877836G>TCA346671374ABCG8c.1945G>T (p.Gly649Cys)
c.1942G>T (p.Gly648Cys)
c.1957G>T (p.Gly653Cys)
c.1954G>T (p.Gly652Cys)
c.1729G>T (p.Gly577Cys)
n.2447G>T
n.2461G>T
2g.43877837G>ACA346671380ABCG8c.1946G>A (p.Gly649Asp)
c.1943G>A (p.Gly648Asp)
c.1958G>A (p.Gly653Asp)
c.1955G>A (p.Gly652Asp)
c.1730G>A (p.Gly577Asp)
n.2448G>A
n.2462G>A
2g.43877837G>CCA346671381ABCG8c.1946G>C (p.Gly649Ala)
c.1943G>C (p.Gly648Ala)
c.1958G>C (p.Gly653Ala)
c.1955G>C (p.Gly652Ala)
c.1730G>C (p.Gly577Ala)
n.2448G>C
n.2462G>C
2g.43877837G>TCA346671383ABCG8c.1946G>T (p.Gly649Val)
c.1943G>T (p.Gly648Val)
c.1958G>T (p.Gly653Val)
c.1955G>T (p.Gly652Val)
c.1730G>T (p.Gly577Val)
n.2448G>T
n.2462G>T
2g.43877838C>ACA425908318ABCG8c.1947C>A (p.Gly649=)
c.1944C>A (p.Gly648=)
c.1959C>A (p.Gly653=)
c.1956C>A (p.Gly652=)
c.1731C>A (p.Gly577=)
n.2449C>A
n.2463C>A
2g.43877838C>GCA425908320ABCG8c.1947C>G (p.Gly649=)
c.1944C>G (p.Gly648=)
c.1959C>G (p.Gly653=)
c.1956C>G (p.Gly652=)
c.1731C>G (p.Gly577=)
n.2449C>G
n.2463C>G
2g.43877838C>TCA425908319ABCG8c.1947C>T (p.Gly649=)
c.1944C>T (p.Gly648=)
c.1959C>T (p.Gly653=)
c.1956C>T (p.Gly652=)
c.1731C>T (p.Gly577=)
n.2449C>T
n.2463C>T
2g.43877839C>ACA346671385ABCG8c.1948C>A (p.Leu650Ile)
c.1945C>A (p.Leu649Ile)
c.1960C>A (p.Leu654Ile)
c.1957C>A (p.Leu653Ile)
c.1732C>A (p.Leu578Ile)
n.2450C>A
n.2464C>A
2g.43877839C>GCA346671386ABCG8c.1948C>G (p.Leu650Val)
c.1945C>G (p.Leu649Val)
c.1960C>G (p.Leu654Val)
c.1957C>G (p.Leu653Val)
c.1732C>G (p.Leu578Val)
n.2450C>G
n.2464C>G
2g.43877839C>TCA346671388ABCG8c.1948C>T (p.Leu650Phe)
c.1945C>T (p.Leu649Phe)
c.1960C>T (p.Leu654Phe)
c.1957C>T (p.Leu653Phe)
c.1732C>T (p.Leu578Phe)
n.2450C>T
n.2464C>T
2g.43877840T>ACA346671390ABCG8c.1949T>A (p.Leu650His)
c.1946T>A (p.Leu649His)
c.1961T>A (p.Leu654His)
c.1958T>A (p.Leu653His)
c.1733T>A (p.Leu578His)
n.2451T>A
n.2465T>A
 gnomAD v4
2g.43877840T>CCA346671392ABCG8c.1949T>C (p.Leu650Pro)
c.1946T>C (p.Leu649Pro)
c.1961T>C (p.Leu654Pro)
c.1958T>C (p.Leu653Pro)
c.1733T>C (p.Leu578Pro)
n.2451T>C
n.2465T>C
2g.43877840T>GCA346671394ABCG8c.1949T>G (p.Leu650Arg)
c.1946T>G (p.Leu649Arg)
c.1961T>G (p.Leu654Arg)
c.1958T>G (p.Leu653Arg)
c.1733T>G (p.Leu578Arg)
n.2451T>G
n.2465T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.43877840T=CA2493965156ABCG8c.1949T= (p.Leu650=)
c.1946T= (p.Leu649=)
c.1961T= (p.Leu654=)
c.1958T= (p.Leu653=)
c.1733T= (p.Leu578=)
n.2451T=
n.2465T=
2g.43877841C>ACA425908321ABCG8c.1950C>A (p.Leu650=)
c.1947C>A (p.Leu649=)
c.1962C>A (p.Leu654=)
c.1959C>A (p.Leu653=)
c.1734C>A (p.Leu578=)
n.2452C>A
n.2466C>A
2g.43877841C=CA2493965157ABCG8c.1950C= (p.Leu650=)
c.1947C= (p.Leu649=)
c.1962C= (p.Leu654=)
c.1959C= (p.Leu653=)
c.1734C= (p.Leu578=)
n.2452C=
n.2466C=
2g.43877841C>GCA425908322ABCG8c.1950C>G (p.Leu650=)
c.1947C>G (p.Leu649=)
c.1962C>G (p.Leu654=)
c.1959C>G (p.Leu653=)
c.1734C>G (p.Leu578=)
n.2452C>G
n.2466C>G
2g.43877841C>TCA425908323ABCG8c.1950C>T (p.Leu650=)
c.1947C>T (p.Leu649=)
c.1962C>T (p.Leu654=)
c.1959C>T (p.Leu653=)
c.1734C>T (p.Leu578=)
n.2452C>T
n.2466C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.43877842A>CCA346671396ABCG8c.1951A>C (p.Ser651Arg)
c.1948A>C (p.Ser650Arg)
c.1963A>C (p.Ser655Arg)
c.1960A>C (p.Ser654Arg)
c.1735A>C (p.Ser579Arg)
n.2453A>C
n.2467A>C
 gnomAD v4
2g.43877842A>GCA346671398ABCG8c.1951A>G (p.Ser651Gly)
c.1948A>G (p.Ser650Gly)
c.1963A>G (p.Ser655Gly)
c.1960A>G (p.Ser654Gly)
c.1735A>G (p.Ser579Gly)
n.2453A>G
n.2467A>G
2g.43877842A>TCA346671400ABCG8c.1951A>T (p.Ser651Cys)
c.1948A>T (p.Ser650Cys)
c.1963A>T (p.Ser655Cys)
c.1960A>T (p.Ser654Cys)
c.1735A>T (p.Ser579Cys)
n.2453A>T
n.2467A>T
2g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGACA2749705968ABCG8c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu650_Ser651insThrValProArgLysGlyLeuLeu)
c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu649_Ser650insThrValProArgLysGlyLeuLeu)
c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu654_Ser655insThrValProArgLysGlyLeuLeu)
c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu653_Ser654insThrValProArgLysGlyLeuLeu)
c.1735_1736insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu578_Ser579insThrValProArgLysGlyLeuLeu)
n.2453_2454insCTGTCCCCAGGAAGGGGCTCCTGA
n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGA
2g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGACA2749705969ABCG8c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser651ThrfsTer?)
c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser650ThrfsTer?)
c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser655ThrfsTer?)
c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser654ThrfsTer?)
c.1735_1736insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser579ThrfsTer?)
n.2453_2454insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA
n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA
2g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGTCA2749705970ABCG8c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser651delinsThrValProArgLysGlyLeuLeuArgArgGluCys)
c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser650delinsThrValProArgLysGlyLeuLeuArgArgGluCys)
c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser655delinsThrValProArgLysGlyLeuLeuArgArgGluCys)
c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser654delinsThrValProArgLysGlyLeuLeuArgArgGluCys)
c.1735_1736insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser579delinsThrValProArgLysGlyLeuLeuArgArgGluCys)
n.2453_2454insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT
n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT
2g.43877843G>ACA346671406ABCG8c.1952G>A (p.Ser651Asn)
c.1949G>A (p.Ser650Asn)
c.1964G>A (p.Ser655Asn)
c.1961G>A (p.Ser654Asn)
c.1736G>A (p.Ser579Asn)
n.2454G>A
n.2468G>A
 dbSNP
2g.43877843G>CCA346671404ABCG8c.1952G>C (p.Ser651Thr)
c.1949G>C (p.Ser650Thr)
c.1964G>C (p.Ser655Thr)
c.1961G>C (p.Ser654Thr)
c.1736G>C (p.Ser579Thr)
n.2454G>C
n.2468G>C
2g.43877843G=CA2493965158ABCG8c.1952G= (p.Ser651=)
c.1949G= (p.Ser650=)
c.1964G= (p.Ser655=)
c.1961G= (p.Ser654=)
c.1736G= (p.Ser579=)
n.2454G=
n.2468G=
2g.43877843G>TCA346671402ABCG8c.1952G>T (p.Ser651Ile)
c.1949G>T (p.Ser650Ile)
c.1964G>T (p.Ser655Ile)
c.1961G>T (p.Ser654Ile)
c.1736G>T (p.Ser579Ile)
n.2454G>T
n.2468G>T
2g.43877844C>ACA346671409ABCG8c.1953C>A (p.Ser651Arg)
c.1950C>A (p.Ser650Arg)
c.1965C>A (p.Ser655Arg)
c.1962C>A (p.Ser654Arg)
c.1737C>A (p.Ser579Arg)
n.2455C>A
n.2469C>A
 dbSNP
2g.43877844C>GCA346671408ABCG8c.1953C>G (p.Ser651Arg)
c.1950C>G (p.Ser650Arg)
c.1965C>G (p.Ser655Arg)
c.1962C>G (p.Ser654Arg)
c.1737C>G (p.Ser579Arg)
n.2455C>G
n.2469C>G
2g.43877844C>TCA425908324ABCG8c.1953C>T (p.Ser651=)
c.1950C>T (p.Ser650=)
c.1965C>T (p.Ser655=)
c.1962C>T (p.Ser654=)
c.1737C>T (p.Ser579=)
n.2455C>T
n.2469C>T
 gnomAD v3 gnomAD v4
2g.43877845G>ACA1637729ABCG8c.1954G>A (p.Gly652Ser)
c.1951G>A (p.Gly651Ser)
c.1966G>A (p.Gly656Ser)
c.1963G>A (p.Gly655Ser)
c.1738G>A (p.Gly580Ser)
n.2456G>A
n.2470G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877845G>CCA346671413ABCG8c.1954G>C (p.Gly652Arg)
c.1951G>C (p.Gly651Arg)
c.1966G>C (p.Gly656Arg)
c.1963G>C (p.Gly655Arg)
c.1738G>C (p.Gly580Arg)
n.2456G>C
n.2470G>C
2g.43877845G=CA2493965159ABCG8c.1954G= (p.Gly652=)
c.1951G= (p.Gly651=)
c.1966G= (p.Gly656=)
c.1963G= (p.Gly655=)
c.1738G= (p.Gly580=)
n.2456G=
n.2470G=
2g.43877845G>TCA346671414ABCG8c.1954G>T (p.Gly652Cys)
c.1951G>T (p.Gly651Cys)
c.1966G>T (p.Gly656Cys)
c.1963G>T (p.Gly655Cys)
c.1738G>T (p.Gly580Cys)
n.2456G>T
n.2470G>T
 gnomAD v4
2g.43877846G>ACA346671416ABCG8c.1955G>A (p.Gly652Asp)
c.1952G>A (p.Gly651Asp)
c.1967G>A (p.Gly656Asp)
c.1964G>A (p.Gly655Asp)
c.1739G>A (p.Gly580Asp)
n.2457G>A
n.2471G>A
2g.43877846G>CCA346671418ABCG8c.1955G>C (p.Gly652Ala)
c.1952G>C (p.Gly651Ala)
c.1967G>C (p.Gly656Ala)
c.1964G>C (p.Gly655Ala)
c.1739G>C (p.Gly580Ala)
n.2457G>C
n.2471G>C
2g.43877846G=CA2493965160ABCG8c.1955G= (p.Gly652=)
c.1952G= (p.Gly651=)
c.1967G= (p.Gly656=)
c.1964G= (p.Gly655=)
c.1739G= (p.Gly580=)
n.2457G=
n.2471G=
2g.43877846G>TCA346671420ABCG8c.1955G>T (p.Gly652Val)
c.1952G>T (p.Gly651Val)
c.1967G>T (p.Gly656Val)
c.1964G>T (p.Gly655Val)
c.1739G>T (p.Gly580Val)
n.2457G>T
n.2471G>T
 dbSNP gnomAD v3 gnomAD v4
2g.43877847T>ACA425908327ABCG8c.1956T>A (p.Gly652=)
c.1953T>A (p.Gly651=)
c.1968T>A (p.Gly656=)
c.1965T>A (p.Gly655=)
c.1740T>A (p.Gly580=)
n.2458T>A
n.2472T>A
2g.43877847T>CCA425908326ABCG8c.1956T>C (p.Gly652=)
c.1953T>C (p.Gly651=)
c.1968T>C (p.Gly656=)
c.1965T>C (p.Gly655=)
c.1740T>C (p.Gly580=)
n.2458T>C
n.2472T>C
 dbSNP gnomAD v4
2g.43877847T>GCA425908325ABCG8c.1956T>G (p.Gly652=)
c.1953T>G (p.Gly651=)
c.1968T>G (p.Gly656=)
c.1965T>G (p.Gly655=)
c.1740T>G (p.Gly580=)
n.2458T>G
n.2472T>G
2g.43877847T=CA2493965161ABCG8c.1956T= (p.Gly652=)
c.1953T= (p.Gly651=)
c.1968T= (p.Gly656=)
c.1965T= (p.Gly655=)
c.1740T= (p.Gly580=)
n.2458T=
n.2472T=
2g.43877848G>ACA346671422ABCG8c.1957G>A (p.Gly653Ser)
c.1954G>A (p.Gly652Ser)
c.1969G>A (p.Gly657Ser)
c.1966G>A (p.Gly656Ser)
c.1741G>A (p.Gly581Ser)
n.2459G>A
n.2473G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877848G>CCA346671424ABCG8c.1957G>C (p.Gly653Arg)
c.1954G>C (p.Gly652Arg)
c.1969G>C (p.Gly657Arg)
c.1966G>C (p.Gly656Arg)
c.1741G>C (p.Gly581Arg)
n.2459G>C
n.2473G>C
 dbSNP gnomAD v2 gnomAD v4
2g.43877848G=CA2493965162ABCG8c.1957G= (p.Gly653=)
c.1954G= (p.Gly652=)
c.1969G= (p.Gly657=)
c.1966G= (p.Gly656=)
c.1741G= (p.Gly581=)
n.2459G=
n.2473G=
2g.43877848G>TCA346671426ABCG8c.1957G>T (p.Gly653Cys)
c.1954G>T (p.Gly652Cys)
c.1969G>T (p.Gly657Cys)
c.1966G>T (p.Gly656Cys)
c.1741G>T (p.Gly581Cys)
n.2459G>T
n.2473G>T
 COSMIC
2g.43877849G>ACA346671428ABCG8c.1958G>A (p.Gly653Asp)
c.1955G>A (p.Gly652Asp)
c.1970G>A (p.Gly657Asp)
c.1967G>A (p.Gly656Asp)
c.1742G>A (p.Gly581Asp)
n.2460G>A
n.2474G>A
 gnomAD v4
2g.43877849G>CCA346671430ABCG8c.1958G>C (p.Gly653Ala)
c.1955G>C (p.Gly652Ala)
c.1970G>C (p.Gly657Ala)
c.1967G>C (p.Gly656Ala)
c.1742G>C (p.Gly581Ala)
n.2460G>C
n.2474G>C
2g.43877849G>TCA346671431ABCG8c.1958G>T (p.Gly653Val)
c.1955G>T (p.Gly652Val)
c.1970G>T (p.Gly657Val)
c.1967G>T (p.Gly656Val)
c.1742G>T (p.Gly581Val)
n.2460G>T
n.2474G>T
2g.43877850C>ACA425908328ABCG8c.1959C>A (p.Gly653=)
c.1956C>A (p.Gly652=)
c.1971C>A (p.Gly657=)
c.1968C>A (p.Gly656=)
c.1743C>A (p.Gly581=)
n.2461C>A
n.2475C>A
2g.43877850C>GCA425908329ABCG8c.1959C>G (p.Gly653=)
c.1956C>G (p.Gly652=)
c.1971C>G (p.Gly657=)
c.1968C>G (p.Gly656=)
c.1743C>G (p.Gly581=)
n.2461C>G
n.2475C>G
2g.43877850C>TCA425908330ABCG8c.1959C>T (p.Gly653=)
c.1956C>T (p.Gly652=)
c.1971C>T (p.Gly657=)
c.1968C>T (p.Gly656=)
c.1743C>T (p.Gly581=)
n.2461C>T
n.2475C>T
2g.43877851T>ACA346671436ABCG8c.1960T>A (p.Phe654Ile)
c.1957T>A (p.Phe653Ile)
c.1972T>A (p.Phe658Ile)
c.1969T>A (p.Phe657Ile)
c.1744T>A (p.Phe582Ile)
n.2462T>A
n.2476T>A
2g.43877851T>CCA346671434ABCG8c.1960T>C (p.Phe654Leu)
c.1957T>C (p.Phe653Leu)
c.1972T>C (p.Phe658Leu)
c.1969T>C (p.Phe657Leu)
c.1744T>C (p.Phe582Leu)
n.2462T>C
n.2476T>C
 gnomAD v4
2g.43877851T>GCA346671432ABCG8c.1960T>G (p.Phe654Val)
c.1957T>G (p.Phe653Val)
c.1972T>G (p.Phe658Val)
c.1969T>G (p.Phe657Val)
c.1744T>G (p.Phe582Val)
n.2462T>G
n.2476T>G
2g.43877852T>ACA346671438ABCG8c.1961T>A (p.Phe654Tyr)
c.1958T>A (p.Phe653Tyr)
c.1973T>A (p.Phe658Tyr)
c.1970T>A (p.Phe657Tyr)
c.1745T>A (p.Phe582Tyr)
n.2463T>A
n.2477T>A
2g.43877852T>CCA346671440ABCG8c.1961T>C (p.Phe654Ser)
c.1958T>C (p.Phe653Ser)
c.1973T>C (p.Phe658Ser)
c.1970T>C (p.Phe657Ser)
c.1745T>C (p.Phe582Ser)
n.2463T>C
n.2477T>C
 gnomAD v4
2g.43877852T>GCA346671442ABCG8c.1961T>G (p.Phe654Cys)
c.1958T>G (p.Phe653Cys)
c.1973T>G (p.Phe658Cys)
c.1970T>G (p.Phe657Cys)
c.1745T>G (p.Phe582Cys)
n.2463T>G
n.2477T>G
 gnomAD v4
2g.43877853C>ACA346671444ABCG8c.1962C>A (p.Phe654Leu)
c.1959C>A (p.Phe653Leu)
c.1974C>A (p.Phe658Leu)
c.1971C>A (p.Phe657Leu)
c.1746C>A (p.Phe582Leu)
n.2464C>A
n.2478C>A
2g.43877853C>GCA346671446ABCG8c.1962C>G (p.Phe654Leu)
c.1959C>G (p.Phe653Leu)
c.1974C>G (p.Phe658Leu)
c.1971C>G (p.Phe657Leu)
c.1746C>G (p.Phe582Leu)
n.2464C>G
n.2478C>G
2g.43877853C>TCA425908331ABCG8c.1962C>T (p.Phe654=)
c.1959C>T (p.Phe653=)
c.1974C>T (p.Phe658=)
c.1971C>T (p.Phe657=)
c.1746C>T (p.Phe582=)
n.2464C>T
n.2478C>T
 gnomAD v4
2g.43877854A=CA2493965163ABCG8c.1963A= (p.Met655=)
c.1960A= (p.Met654=)
c.1975A= (p.Met659=)
c.1972A= (p.Met658=)
c.1747A= (p.Met583=)
n.2465A=
n.2479A=
2g.43877854A>CCA346671448ABCG8c.1963A>C (p.Met655Leu)
c.1960A>C (p.Met654Leu)
c.1975A>C (p.Met659Leu)
c.1972A>C (p.Met658Leu)
c.1747A>C (p.Met583Leu)
n.2465A>C
n.2479A>C
2g.43877854A>GCA1637730ABCG8c.1963A>G (p.Met655Val)
c.1960A>G (p.Met654Val)
c.1975A>G (p.Met659Val)
c.1972A>G (p.Met658Val)
c.1747A>G (p.Met583Val)
n.2465A>G
n.2479A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877854A>TCA346671450ABCG8c.1963A>T (p.Met655Leu)
c.1960A>T (p.Met654Leu)
c.1975A>T (p.Met659Leu)
c.1972A>T (p.Met658Leu)
c.1747A>T (p.Met583Leu)
n.2465A>T
n.2479A>T
2g.43877855T>ACA346671451ABCG8c.1964T>A (p.Met655Lys)
c.1961T>A (p.Met654Lys)
c.1976T>A (p.Met659Lys)
c.1973T>A (p.Met658Lys)
c.1748T>A (p.Met583Lys)
n.2466T>A
n.2480T>A
2g.43877855T>CCA346671452ABCG8c.1964T>C (p.Met655Thr)
c.1961T>C (p.Met654Thr)
c.1976T>C (p.Met659Thr)
c.1973T>C (p.Met658Thr)
c.1748T>C (p.Met583Thr)
n.2466T>C
n.2480T>C
 gnomAD v4
2g.43877855T>GCA346671453ABCG8c.1964T>G (p.Met655Arg)
c.1961T>G (p.Met654Arg)
c.1976T>G (p.Met659Arg)
c.1973T>G (p.Met658Arg)
c.1748T>G (p.Met583Arg)
n.2466T>G
n.2480T>G
2g.43877856G>ACA346671454ABCG8c.1965G>A (p.Met655Ile)
c.1962G>A (p.Met654Ile)
c.1977G>A (p.Met659Ile)
c.1974G>A (p.Met658Ile)
c.1749G>A (p.Met583Ile)
n.2467G>A
n.2481G>A
2g.43877856G>CCA346671455ABCG8c.1965G>C (p.Met655Ile)
c.1962G>C (p.Met654Ile)
c.1977G>C (p.Met659Ile)
c.1974G>C (p.Met658Ile)
c.1749G>C (p.Met583Ile)
n.2467G>C
n.2481G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.43877856G=CA2493965164ABCG8c.1965G= (p.Met655=)
c.1962G= (p.Met654=)
c.1977G= (p.Met659=)
c.1974G= (p.Met658=)
c.1749G= (p.Met583=)
n.2467G=
n.2481G=
2g.43877856G>TCA346671456ABCG8c.1965G>T (p.Met655Ile)
c.1962G>T (p.Met654Ile)
c.1977G>T (p.Met659Ile)
c.1974G>T (p.Met658Ile)
c.1749G>T (p.Met583Ile)
n.2467G>T
n.2481G>T
2g.43877857G>ACA346671459ABCG8c.1966G>A (p.Val656Ile)
c.1963G>A (p.Val655Ile)
c.1978G>A (p.Val660Ile)
c.1975G>A (p.Val659Ile)
c.1750G>A (p.Val584Ile)
n.2468G>A
n.2482G>A
 gnomAD v4
2g.43877857G>CCA346671460ABCG8c.1966G>C (p.Val656Leu)
c.1963G>C (p.Val655Leu)
c.1978G>C (p.Val660Leu)
c.1975G>C (p.Val659Leu)
c.1750G>C (p.Val584Leu)
n.2468G>C
n.2482G>C
2g.43877857G>TCA346671457ABCG8c.1966G>T (p.Val656Phe)
c.1963G>T (p.Val655Phe)
c.1978G>T (p.Val660Phe)
c.1975G>T (p.Val659Phe)
c.1750G>T (p.Val584Phe)
n.2468G>T
n.2482G>T
2g.43877858T>ACA346671461ABCG8c.1967T>A (p.Val656Asp)
c.1964T>A (p.Val655Asp)
c.1979T>A (p.Val660Asp)
c.1976T>A (p.Val659Asp)
c.1751T>A (p.Val584Asp)
n.2469T>A
n.2483T>A
2g.43877858T>CCA346671462ABCG8c.1967T>C (p.Val656Ala)
c.1964T>C (p.Val655Ala)
c.1979T>C (p.Val660Ala)
c.1976T>C (p.Val659Ala)
c.1751T>C (p.Val584Ala)
n.2469T>C
n.2483T>C
 gnomAD v4
2g.43877858T>GCA346671463ABCG8c.1967T>G (p.Val656Gly)
c.1964T>G (p.Val655Gly)
c.1979T>G (p.Val660Gly)
c.1976T>G (p.Val659Gly)
c.1751T>G (p.Val584Gly)
n.2469T>G
n.2483T>G
 gnomAD v4
2g.43877859C>ACA425908332ABCG8c.1968C>A (p.Val656=)
c.1965C>A (p.Val655=)
c.1980C>A (p.Val660=)
c.1977C>A (p.Val659=)
c.1752C>A (p.Val584=)
n.2470C>A
n.2484C>A
 dbSNP gnomAD v4
2g.43877859C=CA2493965165ABCG8c.1968C= (p.Val656=)
c.1965C= (p.Val655=)
c.1980C= (p.Val660=)
c.1977C= (p.Val659=)
c.1752C= (p.Val584=)
n.2470C=
n.2484C=
2g.43877859C>GCA425908333ABCG8c.1968C>G (p.Val656=)
c.1965C>G (p.Val655=)
c.1980C>G (p.Val660=)
c.1977C>G (p.Val659=)
c.1752C>G (p.Val584=)
n.2470C>G
n.2484C>G
 gnomAD v4
2g.43877859C>TCA425908334ABCG8c.1968C>T (p.Val656=)
c.1965C>T (p.Val655=)
c.1980C>T (p.Val660=)
c.1977C>T (p.Val659=)
c.1752C>T (p.Val584=)
n.2470C>T
n.2484C>T
 gnomAD v4
2g.43877860C>ACA346671464ABCG8c.1969C>A (p.Leu657Met)
c.1966C>A (p.Leu656Met)
c.1981C>A (p.Leu661Met)
c.1978C>A (p.Leu660Met)
c.1753C>A (p.Leu585Met)
n.2471C>A
n.2485C>A
2g.43877860C>GCA346671465ABCG8c.1969C>G (p.Leu657Val)
c.1966C>G (p.Leu656Val)
c.1981C>G (p.Leu661Val)
c.1978C>G (p.Leu660Val)
c.1753C>G (p.Leu585Val)
n.2471C>G
n.2485C>G
2g.43877860C>TCA425908335ABCG8c.1969C>T (p.Leu657=)
c.1966C>T (p.Leu656=)
c.1981C>T (p.Leu661=)
c.1978C>T (p.Leu660=)
c.1753C>T (p.Leu585=)
n.2471C>T
n.2485C>T
 gnomAD v4
2g.43877861T>ACA346671466ABCG8c.1970T>A (p.Leu657Gln)
c.1967T>A (p.Leu656Gln)
c.1982T>A (p.Leu661Gln)
c.1979T>A (p.Leu660Gln)
c.1754T>A (p.Leu585Gln)
n.2472T>A
n.2486T>A
 gnomAD v4
2g.43877861T>CCA346671467ABCG8c.1970T>C (p.Leu657Pro)
c.1967T>C (p.Leu656Pro)
c.1982T>C (p.Leu661Pro)
c.1979T>C (p.Leu660Pro)
c.1754T>C (p.Leu585Pro)
n.2472T>C
n.2486T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877861T>GCA346671468ABCG8c.1970T>G (p.Leu657Arg)
c.1967T>G (p.Leu656Arg)
c.1982T>G (p.Leu661Arg)
c.1979T>G (p.Leu660Arg)
c.1754T>G (p.Leu585Arg)
n.2472T>G
n.2486T>G
2g.43877861T=CA2493965166ABCG8c.1970T= (p.Leu657=)
c.1967T= (p.Leu656=)
c.1982T= (p.Leu661=)
c.1979T= (p.Leu660=)
c.1754T= (p.Leu585=)
n.2472T=
n.2486T=
2g.43877862G>ACA425908336ABCG8c.1971G>A (p.Leu657=)
c.1968G>A (p.Leu656=)
c.1983G>A (p.Leu661=)
c.1980G>A (p.Leu660=)
c.1755G>A (p.Leu585=)
n.2473G>A
n.2487G>A
 gnomAD v4
2g.43877862G>CCA425908337ABCG8c.1971G>C (p.Leu657=)
c.1968G>C (p.Leu656=)
c.1983G>C (p.Leu661=)
c.1980G>C (p.Leu660=)
c.1755G>C (p.Leu585=)
n.2473G>C
n.2487G>C
 gnomAD v4
2g.43877862G>TCA425908338ABCG8c.1971G>T (p.Leu657=)
c.1968G>T (p.Leu656=)
c.1983G>T (p.Leu661=)
c.1980G>T (p.Leu660=)
c.1755G>T (p.Leu585=)
n.2473G>T
n.2487G>T
2g.43877862_43877864dupCA2658838103ABCG8c.1971_1973dup (p.Tyr658Ter)
c.1968_1970dup (p.Tyr657Ter)
c.1983_1985dup (p.Tyr662Ter)
c.1980_1982dup (p.Tyr661Ter)
c.1755_1757dup (p.Tyr586Ter)
n.2473_2475dup
n.2487_2489dup
 gnomAD v4
2g.43877863T>ACA346671469ABCG8c.1972T>A (p.Tyr658Asn)
c.1969T>A (p.Tyr657Asn)
c.1984T>A (p.Tyr662Asn)
c.1981T>A (p.Tyr661Asn)
c.1756T>A (p.Tyr586Asn)
n.2474T>A
n.2488T>A
2g.43877863T>CCA346671470ABCG8c.1972T>C (p.Tyr658His)
c.1969T>C (p.Tyr657His)
c.1984T>C (p.Tyr662His)
c.1981T>C (p.Tyr661His)
c.1756T>C (p.Tyr586His)
n.2474T>C
n.2488T>C
2g.43877863T>GCA346671471ABCG8c.1972T>G (p.Tyr658Asp)
c.1969T>G (p.Tyr657Asp)
c.1984T>G (p.Tyr662Asp)
c.1981T>G (p.Tyr661Asp)
c.1756T>G (p.Tyr586Asp)
n.2474T>G
n.2488T>G
2g.43877864A>CCA346671474ABCG8c.1973A>C (p.Tyr658Ser)
c.1970A>C (p.Tyr657Ser)
c.1985A>C (p.Tyr662Ser)
c.1982A>C (p.Tyr661Ser)
c.1757A>C (p.Tyr586Ser)
n.2475A>C
n.2489A>C
2g.43877864A>GCA346671473ABCG8c.1973A>G (p.Tyr658Cys)
c.1970A>G (p.Tyr657Cys)
c.1985A>G (p.Tyr662Cys)
c.1982A>G (p.Tyr661Cys)
c.1757A>G (p.Tyr586Cys)
n.2475A>G
n.2489A>G
2g.43877864A>TCA346671472ABCG8c.1973A>T (p.Tyr658Phe)
c.1970A>T (p.Tyr657Phe)
c.1985A>T (p.Tyr662Phe)
c.1982A>T (p.Tyr661Phe)
c.1757A>T (p.Tyr586Phe)
n.2475A>T
n.2489A>T
2g.43877865C>ACA346671475ABCG8c.1974C>A (p.Tyr658Ter)
c.1971C>A (p.Tyr657Ter)
c.1986C>A (p.Tyr662Ter)
c.1983C>A (p.Tyr661Ter)
c.1758C>A (p.Tyr586Ter)
n.2476C>A
n.2490C>A
2g.43877865C=CA2493965167ABCG8c.1974C= (p.Tyr658=)
c.1971C= (p.Tyr657=)
c.1986C= (p.Tyr662=)
c.1983C= (p.Tyr661=)
c.1758C= (p.Tyr586=)
n.2476C=
n.2490C=
2g.43877865C>GCA253362ABCG8c.1974C>G (p.Tyr658Ter)
c.1971C>G (p.Tyr657Ter)
c.1986C>G (p.Tyr662Ter)
c.1983C>G (p.Tyr661Ter)
c.1758C>G (p.Tyr586Ter)
n.2476C>G
n.2490C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877865C>TCA425908339ABCG8c.1974C>T (p.Tyr658=)
c.1971C>T (p.Tyr657=)
c.1986C>T (p.Tyr662=)
c.1983C>T (p.Tyr661=)
c.1758C>T (p.Tyr586=)
n.2476C>T
n.2490C>T
 gnomAD v4
2g.43877866T>ACA346671476ABCG8c.1975T>A (p.Tyr659Asn)
c.1972T>A (p.Tyr658Asn)
c.1987T>A (p.Tyr663Asn)
c.1984T>A (p.Tyr662Asn)
c.1759T>A (p.Tyr587Asn)
n.2477T>A
n.2491T>A
 gnomAD v4
2g.43877866T>CCA346671477ABCG8c.1975T>C (p.Tyr659His)
c.1972T>C (p.Tyr658His)
c.1987T>C (p.Tyr663His)
c.1984T>C (p.Tyr662His)
c.1759T>C (p.Tyr587His)
n.2477T>C
n.2491T>C
 gnomAD v4
2g.43877866T>GCA346671478ABCG8c.1975T>G (p.Tyr659Asp)
c.1972T>G (p.Tyr658Asp)
c.1987T>G (p.Tyr663Asp)
c.1984T>G (p.Tyr662Asp)
c.1759T>G (p.Tyr587Asp)
n.2477T>G
n.2491T>G
2g.43877867A>CCA346671479ABCG8c.1976A>C (p.Tyr659Ser)
c.1973A>C (p.Tyr658Ser)
c.1988A>C (p.Tyr663Ser)
c.1985A>C (p.Tyr662Ser)
c.1760A>C (p.Tyr587Ser)
n.2478A>C
n.2492A>C
2g.43877867A>GCA346671480ABCG8c.1976A>G (p.Tyr659Cys)
c.1973A>G (p.Tyr658Cys)
c.1988A>G (p.Tyr663Cys)
c.1985A>G (p.Tyr662Cys)
c.1760A>G (p.Tyr587Cys)
n.2478A>G
n.2492A>G
2g.43877867A>TCA346671481ABCG8c.1976A>T (p.Tyr659Phe)
c.1973A>T (p.Tyr658Phe)
c.1988A>T (p.Tyr663Phe)
c.1985A>T (p.Tyr662Phe)
c.1760A>T (p.Tyr587Phe)
n.2478A>T
n.2492A>T
2g.43877868C>ACA346671482ABCG8c.1977C>A (p.Tyr659Ter)
c.1974C>A (p.Tyr658Ter)
c.1989C>A (p.Tyr663Ter)
c.1986C>A (p.Tyr662Ter)
c.1761C>A (p.Tyr587Ter)
n.2479C>A
n.2493C>A
 dbSNP gnomAD v3 gnomAD v4
2g.43877868C=CA2493965168ABCG8c.1977C= (p.Tyr659=)
c.1974C= (p.Tyr658=)
c.1989C= (p.Tyr663=)
c.1986C= (p.Tyr662=)
c.1761C= (p.Tyr587=)
n.2479C=
n.2493C=
2g.43877868C>GCA346671483ABCG8c.1977C>G (p.Tyr659Ter)
c.1974C>G (p.Tyr658Ter)
c.1989C>G (p.Tyr663Ter)
c.1986C>G (p.Tyr662Ter)
c.1761C>G (p.Tyr587Ter)
n.2479C>G
n.2493C>G
2g.43877868C>TCA46474781ABCG8c.1977C>T (p.Tyr659=)
c.1974C>T (p.Tyr658=)
c.1989C>T (p.Tyr663=)
c.1986C>T (p.Tyr662=)
c.1761C>T (p.Tyr587=)
n.2479C>T
n.2493C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877869G>ACA346671484ABCG8c.1978G>A (p.Val660Met)
c.1975G>A (p.Val659Met)
c.1990G>A (p.Val664Met)
c.1987G>A (p.Val663Met)
c.1762G>A (p.Val588Met)
n.2480G>A
n.2494G>A
2g.43877869G>CCA1637731ABCG8c.1978G>C (p.Val660Leu)
c.1975G>C (p.Val659Leu)
c.1990G>C (p.Val664Leu)
c.1987G>C (p.Val663Leu)
c.1762G>C (p.Val588Leu)
n.2480G>C
n.2494G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877869G=CA2493965169ABCG8c.1978G= (p.Val660=)
c.1975G= (p.Val659=)
c.1990G= (p.Val664=)
c.1987G= (p.Val663=)
c.1762G= (p.Val588=)
n.2480G=
n.2494G=
2g.43877869G>TCA346671485ABCG8c.1978G>T (p.Val660Leu)
c.1975G>T (p.Val659Leu)
c.1990G>T (p.Val664Leu)
c.1987G>T (p.Val663Leu)
c.1762G>T (p.Val588Leu)
n.2480G>T
n.2494G>T
2g.43877870T>ACA346671487ABCG8c.1979T>A (p.Val660Glu)
c.1976T>A (p.Val659Glu)
c.1991T>A (p.Val664Glu)
c.1988T>A (p.Val663Glu)
c.1763T>A (p.Val588Glu)
n.2481T>A
n.2495T>A
2g.43877870T>CCA346671488ABCG8c.1979T>C (p.Val660Ala)
c.1976T>C (p.Val659Ala)
c.1991T>C (p.Val664Ala)
c.1988T>C (p.Val663Ala)
c.1763T>C (p.Val588Ala)
n.2481T>C
n.2495T>C
2g.43877870T>GCA346671486ABCG8c.1979T>G (p.Val660Gly)
c.1976T>G (p.Val659Gly)
c.1991T>G (p.Val664Gly)
c.1988T>G (p.Val663Gly)
c.1763T>G (p.Val588Gly)
n.2481T>G
n.2495T>G
2g.43877871G>ACA425908340ABCG8c.1980G>A (p.Val660=)
c.1977G>A (p.Val659=)
c.1992G>A (p.Val664=)
c.1989G>A (p.Val663=)
c.1764G>A (p.Val588=)
n.2482G>A
n.2496G>A
2g.43877871G>CCA425908341ABCG8c.1980G>C (p.Val660=)
c.1977G>C (p.Val659=)
c.1992G>C (p.Val664=)
c.1989G>C (p.Val663=)
c.1764G>C (p.Val588=)
n.2482G>C
n.2496G>C
2g.43877871G>TCA425908342ABCG8c.1980G>T (p.Val660=)
c.1977G>T (p.Val659=)
c.1992G>T (p.Val664=)
c.1989G>T (p.Val663=)
c.1764G>T (p.Val588=)
n.2482G>T
n.2496G>T
2g.43877872T>ACA346671489ABCG8c.1981T>A (p.Ser661Thr)
c.1978T>A (p.Ser660Thr)
c.1993T>A (p.Ser665Thr)
c.1990T>A (p.Ser664Thr)
c.1765T>A (p.Ser589Thr)
n.2483T>A
n.2497T>A
2g.43877872T>CCA346671491ABCG8c.1981T>C (p.Ser661Pro)
c.1978T>C (p.Ser660Pro)
c.1993T>C (p.Ser665Pro)
c.1990T>C (p.Ser664Pro)
c.1765T>C (p.Ser589Pro)
n.2483T>C
n.2497T>C
2g.43877872T>GCA346671490ABCG8c.1981T>G (p.Ser661Ala)
c.1978T>G (p.Ser660Ala)
c.1993T>G (p.Ser665Ala)
c.1990T>G (p.Ser664Ala)
c.1765T>G (p.Ser589Ala)
n.2483T>G
n.2497T>G
2g.43877873C>ACA346671492ABCG8c.1982C>A (p.Ser661Tyr)
c.1979C>A (p.Ser660Tyr)
c.1994C>A (p.Ser665Tyr)
c.1991C>A (p.Ser664Tyr)
c.1766C>A (p.Ser589Tyr)
n.2484C>A
n.2498C>A
2g.43877873C>GCA346671494ABCG8c.1982C>G (p.Ser661Cys)
c.1979C>G (p.Ser660Cys)
c.1994C>G (p.Ser665Cys)
c.1991C>G (p.Ser664Cys)
c.1766C>G (p.Ser589Cys)
n.2484C>G
n.2498C>G
2g.43877873C>TCA346671493ABCG8c.1982C>T (p.Ser661Phe)
c.1979C>T (p.Ser660Phe)
c.1994C>T (p.Ser665Phe)
c.1991C>T (p.Ser664Phe)
c.1766C>T (p.Ser589Phe)
n.2484C>T
n.2498C>T
2g.43877874C>ACA425908343ABCG8c.1983C>A (p.Ser661=)
c.1980C>A (p.Ser660=)
c.1995C>A (p.Ser665=)
c.1992C>A (p.Ser664=)
c.1767C>A (p.Ser589=)
n.2485C>A
n.2499C>A
 dbSNP gnomAD v2 gnomAD v4
2g.43877874C=CA2493965170ABCG8c.1983C= (p.Ser661=)
c.1980C= (p.Ser660=)
c.1995C= (p.Ser665=)
c.1992C= (p.Ser664=)
c.1767C= (p.Ser589=)
n.2485C=
n.2499C=
2g.43877874C>GCA425908344ABCG8c.1983C>G (p.Ser661=)
c.1980C>G (p.Ser660=)
c.1995C>G (p.Ser665=)
c.1992C>G (p.Ser664=)
c.1767C>G (p.Ser589=)
n.2485C>G
n.2499C>G
2g.43877874C>TCA1637732ABCG8c.1983C>T (p.Ser661=)
c.1980C>T (p.Ser660=)
c.1995C>T (p.Ser665=)
c.1992C>T (p.Ser664=)
c.1767C>T (p.Ser589=)
n.2485C>T
n.2499C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877875T>ACA346671496ABCG8c.1984T>A (p.Leu662Ile)
c.1981T>A (p.Leu661Ile)
c.1996T>A (p.Leu666Ile)
c.1993T>A (p.Leu665Ile)
c.1768T>A (p.Leu590Ile)
n.2486T>A
n.2500T>A
2g.43877875T>CCA425908345ABCG8c.1984T>C (p.Leu662=)
c.1981T>C (p.Leu661=)
c.1996T>C (p.Leu666=)
c.1993T>C (p.Leu665=)
c.1768T>C (p.Leu590=)
n.2486T>C
n.2500T>C
2g.43877875T>GCA346671495ABCG8c.1984T>G (p.Leu662Val)
c.1981T>G (p.Leu661Val)
c.1996T>G (p.Leu666Val)
c.1993T>G (p.Leu665Val)
c.1768T>G (p.Leu590Val)
n.2486T>G
n.2500T>G
2g.43877876T>ACA346671497ABCG8c.1985T>A (p.Leu662Ter)
c.1982T>A (p.Leu661Ter)
c.1997T>A (p.Leu666Ter)
c.1994T>A (p.Leu665Ter)
c.1769T>A (p.Leu590Ter)
n.2487T>A
n.2501T>A
2g.43877876T>CCA346671498ABCG8c.1985T>C (p.Leu662Ser)
c.1982T>C (p.Leu661Ser)
c.1997T>C (p.Leu666Ser)
c.1994T>C (p.Leu665Ser)
c.1769T>C (p.Leu590Ser)
n.2487T>C
n.2501T>C
2g.43877876T>GCA346671499ABCG8c.1985T>G (p.Leu662Ter)
c.1982T>G (p.Leu661Ter)
c.1997T>G (p.Leu666Ter)
c.1994T>G (p.Leu665Ter)
c.1769T>G (p.Leu590Ter)
n.2487T>G
n.2501T>G
2g.43877877A>CCA346671500ABCG8c.1986A>C (p.Leu662Phe)
c.1983A>C (p.Leu661Phe)
c.1998A>C (p.Leu666Phe)
c.1995A>C (p.Leu665Phe)
c.1770A>C (p.Leu590Phe)
n.2488A>C
n.2502A>C
2g.43877877A>GCA425908346ABCG8c.1986A>G (p.Leu662=)
c.1983A>G (p.Leu661=)
c.1998A>G (p.Leu666=)
c.1995A>G (p.Leu665=)
c.1770A>G (p.Leu590=)
n.2488A>G
n.2502A>G
2g.43877877A>TCA346671501ABCG8c.1986A>T (p.Leu662Phe)
c.1983A>T (p.Leu661Phe)
c.1998A>T (p.Leu666Phe)
c.1995A>T (p.Leu665Phe)
c.1770A>T (p.Leu590Phe)
n.2488A>T
n.2502A>T
2g.43877878A=CA2493965171ABCG8c.1987A= (p.Arg663=)
c.1984A= (p.Arg662=)
c.1999A= (p.Arg667=)
c.1996A= (p.Arg666=)
c.1771A= (p.Arg591=)
n.2489A=
n.2503A=
2g.43877878A>CCA425908347ABCG8c.1987A>C (p.Arg663=)
c.1984A>C (p.Arg662=)
c.1999A>C (p.Arg667=)
c.1996A>C (p.Arg666=)
c.1771A>C (p.Arg591=)
n.2489A>C
n.2503A>C
2g.43877878A>GCA1637733ABCG8c.1987A>G (p.Arg663Gly)
c.1984A>G (p.Arg662Gly)
c.1999A>G (p.Arg667Gly)
c.1996A>G (p.Arg666Gly)
c.1771A>G (p.Arg591Gly)
n.2489A>G
n.2503A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877878A>TCA346671502ABCG8c.1987A>T (p.Arg663Trp)
c.1984A>T (p.Arg662Trp)
c.1999A>T (p.Arg667Trp)
c.1996A>T (p.Arg666Trp)
c.1771A>T (p.Arg591Trp)
n.2489A>T
n.2503A>T
2g.43877879G>ACA346671503ABCG8c.1988G>A (p.Arg663Lys)
c.1985G>A (p.Arg662Lys)
c.2000G>A (p.Arg667Lys)
c.1997G>A (p.Arg666Lys)
c.1772G>A (p.Arg591Lys)
n.2490G>A
n.2504G>A
2g.43877879G>CCA346671504ABCG8c.1988G>C (p.Arg663Thr)
c.1985G>C (p.Arg662Thr)
c.2000G>C (p.Arg667Thr)
c.1997G>C (p.Arg666Thr)
c.1772G>C (p.Arg591Thr)
n.2490G>C
n.2504G>C
2g.43877879G>TCA346671505ABCG8c.1988G>T (p.Arg663Met)
c.1985G>T (p.Arg662Met)
c.2000G>T (p.Arg667Met)
c.1997G>T (p.Arg666Met)
c.1772G>T (p.Arg591Met)
n.2490G>T
n.2504G>T
2g.43877880G>ACA425908348ABCG8c.1989G>A (p.Arg663=)
c.1986G>A (p.Arg662=)
c.2001G>A (p.Arg667=)
c.1998G>A (p.Arg666=)
c.1773G>A (p.Arg591=)
n.2491G>A
n.2505G>A
2g.43877880G>CCA346671506ABCG8c.1989G>C (p.Arg663Ser)
c.1986G>C (p.Arg662Ser)
c.2001G>C (p.Arg667Ser)
c.1998G>C (p.Arg666Ser)
c.1773G>C (p.Arg591Ser)
n.2491G>C
n.2505G>C
2g.43877880G=CA2493965172ABCG8c.1989G= (p.Arg663=)
c.1986G= (p.Arg662=)
c.2001G= (p.Arg667=)
c.1998G= (p.Arg666=)
c.1773G= (p.Arg591=)
n.2491G=
n.2505G=
2g.43877880G>TCA346671507ABCG8c.1989G>T (p.Arg663Ser)
c.1986G>T (p.Arg662Ser)
c.2001G>T (p.Arg667Ser)
c.1998G>T (p.Arg666Ser)
c.1773G>T (p.Arg591Ser)
n.2491G>T
n.2505G>T
 dbSNP
2g.43877881T>ACA346671508ABCG8c.1990T>A (p.Phe664Ile)
c.1987T>A (p.Phe663Ile)
c.2002T>A (p.Phe668Ile)
c.1999T>A (p.Phe667Ile)
c.1774T>A (p.Phe592Ile)
n.2492T>A
n.2506T>A
2g.43877881T>CCA346671510ABCG8c.1990T>C (p.Phe664Leu)
c.1987T>C (p.Phe663Leu)
c.2002T>C (p.Phe668Leu)
c.1999T>C (p.Phe667Leu)
c.1774T>C (p.Phe592Leu)
n.2492T>C
n.2506T>C
 dbSNP gnomAD v3 gnomAD v4
2g.43877881T>GCA346671509ABCG8c.1990T>G (p.Phe664Val)
c.1987T>G (p.Phe663Val)
c.2002T>G (p.Phe668Val)
c.1999T>G (p.Phe667Val)
c.1774T>G (p.Phe592Val)
n.2492T>G
n.2506T>G
2g.43877881T=CA2493965173ABCG8c.1990T= (p.Phe664=)
c.1987T= (p.Phe663=)
c.2002T= (p.Phe668=)
c.1999T= (p.Phe667=)
c.1774T= (p.Phe592=)
n.2492T=
n.2506T=
2g.43877882T>ACA346671511ABCG8c.1991T>A (p.Phe664Tyr)
c.1988T>A (p.Phe663Tyr)
c.2003T>A (p.Phe668Tyr)
c.2000T>A (p.Phe667Tyr)
c.1775T>A (p.Phe592Tyr)
n.2493T>A
n.2507T>A
2g.43877882T>CCA346671512ABCG8c.1991T>C (p.Phe664Ser)
c.1988T>C (p.Phe663Ser)
c.2003T>C (p.Phe668Ser)
c.2000T>C (p.Phe667Ser)
c.1775T>C (p.Phe592Ser)
n.2493T>C
n.2507T>C
 dbSNP gnomAD v3 gnomAD v4
2g.43877882T>GCA346671514ABCG8c.1991T>G (p.Phe664Cys)
c.1988T>G (p.Phe663Cys)
c.2003T>G (p.Phe668Cys)
c.2000T>G (p.Phe667Cys)
c.1775T>G (p.Phe592Cys)
n.2493T>G
n.2507T>G
 gnomAD v4
2g.43877882T=CA2493965174ABCG8c.1991T= (p.Phe664=)
c.1988T= (p.Phe663=)
c.2003T= (p.Phe668=)
c.2000T= (p.Phe667=)
c.1775T= (p.Phe592=)
n.2493T=
n.2507T=
2g.43877883C>ACA346671516ABCG8c.1992C>A (p.Phe664Leu)
c.1989C>A (p.Phe663Leu)
c.2004C>A (p.Phe668Leu)
c.2001C>A (p.Phe667Leu)
c.1776C>A (p.Phe592Leu)
n.2494C>A
n.2508C>A
2g.43877883C>GCA346671518ABCG8c.1992C>G (p.Phe664Leu)
c.1989C>G (p.Phe663Leu)
c.2004C>G (p.Phe668Leu)
c.2001C>G (p.Phe667Leu)
c.1776C>G (p.Phe592Leu)
n.2494C>G
n.2508C>G
2g.43877883C>TCA425908350ABCG8c.1992C>T (p.Phe664=)
c.1989C>T (p.Phe663=)
c.2004C>T (p.Phe668=)
c.2001C>T (p.Phe667=)
c.1776C>T (p.Phe592=)
n.2494C>T
n.2508C>T
 gnomAD v4
2g.43877884A=CA2493965175ABCG8c.1993A= (p.Ile665=)
c.1990A= (p.Ile664=)
c.2005A= (p.Ile669=)
c.2002A= (p.Ile668=)
c.1777A= (p.Ile593=)
n.2495A=
n.2509A=
2g.43877884A>CCA346671520ABCG8c.1993A>C (p.Ile665Leu)
c.1990A>C (p.Ile664Leu)
c.2005A>C (p.Ile669Leu)
c.2002A>C (p.Ile668Leu)
c.1777A>C (p.Ile593Leu)
n.2495A>C
n.2509A>C
 dbSNP
2g.43877884A>GCA346671522ABCG8c.1993A>G (p.Ile665Val)
c.1990A>G (p.Ile664Val)
c.2005A>G (p.Ile669Val)
c.2002A>G (p.Ile668Val)
c.1777A>G (p.Ile593Val)
n.2495A>G
n.2509A>G
2g.43877884A>TCA346671524ABCG8c.1993A>T (p.Ile665Phe)
c.1990A>T (p.Ile664Phe)
c.2005A>T (p.Ile669Phe)
c.2002A>T (p.Ile668Phe)
c.1777A>T (p.Ile593Phe)
n.2495A>T
n.2509A>T
2g.43877885T>ACA346671526ABCG8c.1994T>A (p.Ile665Asn)
c.1991T>A (p.Ile664Asn)
c.2006T>A (p.Ile669Asn)
c.2003T>A (p.Ile668Asn)
c.1778T>A (p.Ile593Asn)
n.2496T>A
n.2510T>A
2g.43877885T>CCA346671528ABCG8c.1994T>C (p.Ile665Thr)
c.1991T>C (p.Ile664Thr)
c.2006T>C (p.Ile669Thr)
c.2003T>C (p.Ile668Thr)
c.1778T>C (p.Ile593Thr)
n.2496T>C
n.2510T>C
 gnomAD v4
2g.43877885T>GCA46474804ABCG8c.1994T>G (p.Ile665Ser)
c.1991T>G (p.Ile664Ser)
c.2006T>G (p.Ile669Ser)
c.2003T>G (p.Ile668Ser)
c.1778T>G (p.Ile593Ser)
n.2496T>G
n.2510T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877885T=CA2493965176ABCG8c.1994T= (p.Ile665=)
c.1991T= (p.Ile664=)
c.2006T= (p.Ile669=)
c.2003T= (p.Ile668=)
c.1778T= (p.Ile593=)
n.2496T=
n.2510T=
2g.43877886C>ACA425908351ABCG8c.1995C>A (p.Ile665=)
c.1992C>A (p.Ile664=)
c.2007C>A (p.Ile669=)
c.2004C>A (p.Ile668=)
c.1779C>A (p.Ile593=)
n.2497C>A
n.2511C>A
2g.43877886C>GCA346671530ABCG8c.1995C>G (p.Ile665Met)
c.1992C>G (p.Ile664Met)
c.2007C>G (p.Ile669Met)
c.2004C>G (p.Ile668Met)
c.1779C>G (p.Ile593Met)
n.2497C>G
n.2511C>G
 gnomAD v4
2g.43877886C>TCA425908352ABCG8c.1995C>T (p.Ile665=)
c.1992C>T (p.Ile664=)
c.2007C>T (p.Ile669=)
c.2004C>T (p.Ile668=)
c.1779C>T (p.Ile593=)
n.2497C>T
n.2511C>T
2g.43877887A>CCA346671536ABCG8c.1996A>C (p.Lys666Gln)
c.1993A>C (p.Lys665Gln)
c.2008A>C (p.Lys670Gln)
c.2005A>C (p.Lys669Gln)
c.1780A>C (p.Lys594Gln)
n.2498A>C
n.2512A>C
 gnomAD v4
2g.43877887A>GCA346671533ABCG8c.1996A>G (p.Lys666Glu)
c.1993A>G (p.Lys665Glu)
c.2008A>G (p.Lys670Glu)
c.2005A>G (p.Lys669Glu)
c.1780A>G (p.Lys594Glu)
n.2498A>G
n.2512A>G
2g.43877887A>TCA346671534ABCG8c.1996A>T (p.Lys666Ter)
c.1993A>T (p.Lys665Ter)
c.2008A>T (p.Lys670Ter)
c.2005A>T (p.Lys669Ter)
c.1780A>T (p.Lys594Ter)
n.2498A>T
n.2512A>T
2g.43877888A>CCA346671538ABCG8c.1997A>C (p.Lys666Thr)
c.1994A>C (p.Lys665Thr)
c.2009A>C (p.Lys670Thr)
c.2006A>C (p.Lys669Thr)
c.1781A>C (p.Lys594Thr)
n.2499A>C
n.2513A>C
2g.43877888A>GCA346671540ABCG8c.1997A>G (p.Lys666Arg)
c.1994A>G (p.Lys665Arg)
c.2009A>G (p.Lys670Arg)
c.2006A>G (p.Lys669Arg)
c.1781A>G (p.Lys594Arg)
n.2499A>G
n.2513A>G
2g.43877888A>TCA346671541ABCG8c.1997A>T (p.Lys666Ile)
c.1994A>T (p.Lys665Ile)
c.2009A>T (p.Lys670Ile)
c.2006A>T (p.Lys669Ile)
c.1781A>T (p.Lys594Ile)
n.2499A>T
n.2513A>T
2g.43877889A>CCA346671543ABCG8c.1998A>C (p.Lys666Asn)
c.1995A>C (p.Lys665Asn)
c.2010A>C (p.Lys670Asn)
c.2007A>C (p.Lys669Asn)
c.1782A>C (p.Lys594Asn)
n.2500A>C
n.2514A>C
2g.43877889A>GCA425908353ABCG8c.1998A>G (p.Lys666=)
c.1995A>G (p.Lys665=)
c.2010A>G (p.Lys670=)
c.2007A>G (p.Lys669=)
c.1782A>G (p.Lys594=)
n.2500A>G
n.2514A>G
2g.43877889A>TCA346671545ABCG8c.1998A>T (p.Lys666Asn)
c.1995A>T (p.Lys665Asn)
c.2010A>T (p.Lys670Asn)
c.2007A>T (p.Lys669Asn)
c.1782A>T (p.Lys594Asn)
n.2500A>T
n.2514A>T
2g.43877890C>ACA346671547ABCG8c.1999C>A (p.Gln667Lys)
c.1996C>A (p.Gln666Lys)
c.2011C>A (p.Gln671Lys)
c.2008C>A (p.Gln670Lys)
c.1783C>A (p.Gln595Lys)
n.2501C>A
n.2515C>A
2g.43877890C>GCA346671549ABCG8c.1999C>G (p.Gln667Glu)
c.1996C>G (p.Gln666Glu)
c.2011C>G (p.Gln671Glu)
c.2008C>G (p.Gln670Glu)
c.1783C>G (p.Gln595Glu)
n.2501C>G
n.2515C>G
2g.43877890C>TCA346671551ABCG8c.1999C>T (p.Gln667Ter)
c.1996C>T (p.Gln666Ter)
c.2011C>T (p.Gln671Ter)
c.2008C>T (p.Gln670Ter)
c.1783C>T (p.Gln595Ter)
n.2501C>T
n.2515C>T
2g.43877891A>CCA346671553ABCG8c.2000A>C (p.Gln667Pro)
c.1997A>C (p.Gln666Pro)
c.2012A>C (p.Gln671Pro)
c.2009A>C (p.Gln670Pro)
c.1784A>C (p.Gln595Pro)
n.2502A>C
n.2516A>C
2g.43877891A>GCA346671554ABCG8c.2000A>G (p.Gln667Arg)
c.1997A>G (p.Gln666Arg)
c.2012A>G (p.Gln671Arg)
c.2009A>G (p.Gln670Arg)
c.1784A>G (p.Gln595Arg)
n.2502A>G
n.2516A>G
2g.43877891A>TCA346671556ABCG8c.2000A>T (p.Gln667Leu)
c.1997A>T (p.Gln666Leu)
c.2012A>T (p.Gln671Leu)
c.2009A>T (p.Gln670Leu)
c.1784A>T (p.Gln595Leu)
n.2502A>T
n.2516A>T
2g.43877892G>ACA425908354ABCG8c.2001G>A (p.Gln667=)
c.1998G>A (p.Gln666=)
c.2013G>A (p.Gln671=)
c.2010G>A (p.Gln670=)
c.1785G>A (p.Gln595=)
n.2503G>A
n.2517G>A
2g.43877892G>CCA346671558ABCG8c.2001G>C (p.Gln667His)
c.1998G>C (p.Gln666His)
c.2013G>C (p.Gln671His)
c.2010G>C (p.Gln670His)
c.1785G>C (p.Gln595His)
n.2503G>C
n.2517G>C
2g.43877892G>TCA346671560ABCG8c.2001G>T (p.Gln667His)
c.1998G>T (p.Gln666His)
c.2013G>T (p.Gln671His)
c.2010G>T (p.Gln670His)
c.1785G>T (p.Gln595His)
n.2503G>T
n.2517G>T
 COSMIC
2g.43877893A>CCA346671562ABCG8c.2002A>C (p.Lys668Gln)
c.1999A>C (p.Lys667Gln)
c.2014A>C (p.Lys672Gln)
c.2011A>C (p.Lys671Gln)
c.1786A>C (p.Lys596Gln)
n.2504A>C
n.2518A>C
2g.43877893A>GCA346671564ABCG8c.2002A>G (p.Lys668Glu)
c.1999A>G (p.Lys667Glu)
c.2014A>G (p.Lys672Glu)
c.2011A>G (p.Lys671Glu)
c.1786A>G (p.Lys596Glu)
n.2504A>G
n.2518A>G
2g.43877893A>TCA346671565ABCG8c.2002A>T (p.Lys668Ter)
c.1999A>T (p.Lys667Ter)
c.2014A>T (p.Lys672Ter)
c.2011A>T (p.Lys671Ter)
c.1786A>T (p.Lys596Ter)
n.2504A>T
n.2518A>T
2g.43877894A>CCA346671566ABCG8c.2003A>C (p.Lys668Thr)
c.2000A>C (p.Lys667Thr)
c.2015A>C (p.Lys672Thr)
c.2012A>C (p.Lys671Thr)
c.1787A>C (p.Lys596Thr)
n.2505A>C
n.2519A>C
2g.43877894A>GCA346671568ABCG8c.2003A>G (p.Lys668Arg)
c.2000A>G (p.Lys667Arg)
c.2015A>G (p.Lys672Arg)
c.2012A>G (p.Lys671Arg)
c.1787A>G (p.Lys596Arg)
n.2505A>G
n.2519A>G
2g.43877894A>TCA346671570ABCG8c.2003A>T (p.Lys668Ile)
c.2000A>T (p.Lys667Ile)
c.2015A>T (p.Lys672Ile)
c.2012A>T (p.Lys671Ile)
c.1787A>T (p.Lys596Ile)
n.2505A>T
n.2519A>T
2g.43877895A=CA2493965177ABCG8c.2004A= (p.Lys668=)
c.2001A= (p.Lys667=)
c.2016A= (p.Lys672=)
c.2013A= (p.Lys671=)
c.1788A= (p.Lys596=)
n.2506A=
n.2520A=
2g.43877895A>CCA346671572ABCG8c.2004A>C (p.Lys668Asn)
c.2001A>C (p.Lys667Asn)
c.2016A>C (p.Lys672Asn)
c.2013A>C (p.Lys671Asn)
c.1788A>C (p.Lys596Asn)
n.2506A>C
n.2520A>C
2g.43877895A>GCA425908355ABCG8c.2004A>G (p.Lys668=)
c.2001A>G (p.Lys667=)
c.2016A>G (p.Lys672=)
c.2013A>G (p.Lys671=)
c.1788A>G (p.Lys596=)
n.2506A>G
n.2520A>G
 dbSNP
2g.43877895A>TCA346671573ABCG8c.2004A>T (p.Lys668Asn)
c.2001A>T (p.Lys667Asn)
c.2016A>T (p.Lys672Asn)
c.2013A>T (p.Lys671Asn)
c.1788A>T (p.Lys596Asn)
n.2506A>T
n.2520A>T
2g.43877896C>ACA346671576ABCG8c.2005C>A (p.Pro669Thr)
c.2002C>A (p.Pro668Thr)
c.2017C>A (p.Pro673Thr)
c.2014C>A (p.Pro672Thr)
c.1789C>A (p.Pro597Thr)
n.2507C>A
n.2521C>A
2g.43877896C=CA2493965178ABCG8c.2005C= (p.Pro669=)
c.2002C= (p.Pro668=)
c.2017C= (p.Pro673=)
c.2014C= (p.Pro672=)
c.1789C= (p.Pro597=)
n.2507C=
n.2521C=
2g.43877896C>GCA346671578ABCG8c.2005C>G (p.Pro669Ala)
c.2002C>G (p.Pro668Ala)
c.2017C>G (p.Pro673Ala)
c.2014C>G (p.Pro672Ala)
c.1789C>G (p.Pro597Ala)
n.2507C>G
n.2521C>G
 dbSNP
2g.43877896C>TCA346671579ABCG8c.2005C>T (p.Pro669Ser)
c.2002C>T (p.Pro668Ser)
c.2017C>T (p.Pro673Ser)
c.2014C>T (p.Pro672Ser)
c.1789C>T (p.Pro597Ser)
n.2507C>T
n.2521C>T
2g.43877897C>ACA346671585ABCG8c.2006C>A (p.Pro669Gln)
c.2003C>A (p.Pro668Gln)
c.2018C>A (p.Pro673Gln)
c.2015C>A (p.Pro672Gln)
c.1790C>A (p.Pro597Gln)
n.2508C>A
n.2522C>A
2g.43877897C>GCA346671583ABCG8c.2006C>G (p.Pro669Arg)
c.2003C>G (p.Pro668Arg)
c.2018C>G (p.Pro673Arg)
c.2015C>G (p.Pro672Arg)
c.1790C>G (p.Pro597Arg)
n.2508C>G
n.2522C>G
2g.43877897C>TCA346671581ABCG8c.2006C>T (p.Pro669Leu)
c.2003C>T (p.Pro668Leu)
c.2018C>T (p.Pro673Leu)
c.2015C>T (p.Pro672Leu)
c.1790C>T (p.Pro597Leu)
n.2508C>T
n.2522C>T
2g.43877901_43877905delCA2576953932ABCG8c.2010_2014del (p.Ser670ArgfsTer?)
c.2007_2011del (p.Ser669ArgfsTer?)
c.2022_2026del (p.Ser674ArgfsTer?)
c.2019_2023del (p.Ser673ArgfsTer?)
c.1794_1798del (p.Ser598ArgfsTer?)
n.2512_2516del
n.2526_2530del
 gnomAD v4
2g.43877898A>CCA425908357ABCG8c.2007A>C (p.Pro669=)
c.2004A>C (p.Pro668=)
c.2019A>C (p.Pro673=)
c.2016A>C (p.Pro672=)
c.1791A>C (p.Pro597=)
n.2509A>C
n.2523A>C
2g.43877898A>GCA425908358ABCG8c.2007A>G (p.Pro669=)
c.2004A>G (p.Pro668=)
c.2019A>G (p.Pro673=)
c.2016A>G (p.Pro672=)
c.1791A>G (p.Pro597=)
n.2509A>G
n.2523A>G
 gnomAD v4
2g.43877898A>TCA425908359ABCG8c.2007A>T (p.Pro669=)
c.2004A>T (p.Pro668=)
c.2019A>T (p.Pro673=)
c.2016A>T (p.Pro672=)
c.1791A>T (p.Pro597=)
n.2509A>T
n.2523A>T
2g.43877899delCA2658838104ABCG8c.2008del (p.Ser670ValfsTer17)
c.2005del (p.Ser669ValfsTer17)
c.2020del (p.Ser674ValfsTer17)
c.2017del (p.Ser673ValfsTer17)
c.1792del (p.Ser598ValfsTer17)
n.2510del
n.2524del
 gnomAD v4
2g.43877899A>CCA346671586ABCG8c.2008A>C (p.Ser670Arg)
c.2005A>C (p.Ser669Arg)
c.2020A>C (p.Ser674Arg)
c.2017A>C (p.Ser673Arg)
c.1792A>C (p.Ser598Arg)
n.2510A>C
n.2524A>C
2g.43877899A>GCA346671589ABCG8c.2008A>G (p.Ser670Gly)
c.2005A>G (p.Ser669Gly)
c.2020A>G (p.Ser674Gly)
c.2017A>G (p.Ser673Gly)
c.1792A>G (p.Ser598Gly)
n.2510A>G
n.2524A>G
2g.43877899A>TCA346671587ABCG8c.2008A>T (p.Ser670Cys)
c.2005A>T (p.Ser669Cys)
c.2020A>T (p.Ser674Cys)
c.2017A>T (p.Ser673Cys)
c.1792A>T (p.Ser598Cys)
n.2510A>T
n.2524A>T
2g.43877899_43877900insACACACCCAACACACA2749705971ABCG8c.2008_2009insACACACCCAACACA (p.Ser670AsnfsTer22)
c.2005_2006insACACACCCAACACA (p.Ser669AsnfsTer22)
c.2020_2021insACACACCCAACACA (p.Ser674AsnfsTer22)
c.2017_2018insACACACCCAACACA (p.Ser673AsnfsTer22)
c.1792_1793insACACACCCAACACA (p.Ser598AsnfsTer22)
n.2510_2511insACACACCCAACACA
n.2524_2525insACACACCCAACACA
2g.43877900G>ACA346671591ABCG8c.2009G>A (p.Ser670Asn)
c.2006G>A (p.Ser669Asn)
c.2021G>A (p.Ser674Asn)
c.2018G>A (p.Ser673Asn)
c.1793G>A (p.Ser598Asn)
n.2511G>A
n.2525G>A
2g.43877900G>CCA346671593ABCG8c.2009G>C (p.Ser670Thr)
c.2006G>C (p.Ser669Thr)
c.2021G>C (p.Ser674Thr)
c.2018G>C (p.Ser673Thr)
c.1793G>C (p.Ser598Thr)
n.2511G>C
n.2525G>C
2g.43877900G>TCA346671594ABCG8c.2009G>T (p.Ser670Ile)
c.2006G>T (p.Ser669Ile)
c.2021G>T (p.Ser674Ile)
c.2018G>T (p.Ser673Ile)
c.1793G>T (p.Ser598Ile)
n.2511G>T
n.2525G>T
2g.43877901delCA2749705972ABCG8c.2010del (p.Gln671LysfsTer16)
c.2007del (p.Gln670LysfsTer16)
c.2022del (p.Gln675LysfsTer16)
c.2019del (p.Gln674LysfsTer16)
c.1794del (p.Gln599LysfsTer16)
n.2512del
n.2526del
2g.43877901T>ACA346671595ABCG8c.2010T>A (p.Ser670Arg)
c.2007T>A (p.Ser669Arg)
c.2022T>A (p.Ser674Arg)
c.2019T>A (p.Ser673Arg)
c.1794T>A (p.Ser598Arg)
n.2512T>A
n.2526T>A
2g.43877901T>CCA425908360ABCG8c.2010T>C (p.Ser670=)
c.2007T>C (p.Ser669=)
c.2022T>C (p.Ser674=)
c.2019T>C (p.Ser673=)
c.1794T>C (p.Ser598=)
n.2512T>C
n.2526T>C
2g.43877901T>GCA346671597ABCG8c.2010T>G (p.Ser670Arg)
c.2007T>G (p.Ser669Arg)
c.2022T>G (p.Ser674Arg)
c.2019T>G (p.Ser673Arg)
c.1794T>G (p.Ser598Arg)
n.2512T>G
n.2526T>G
2g.43877901_43877902insGATTCA2658838105ABCG8c.2010_2011insGATT (p.Gln671AspfsTer?)
c.2007_2008insGATT (p.Gln670AspfsTer?)
c.2022_2023insGATT (p.Gln675AspfsTer?)
c.2019_2020insGATT (p.Gln674AspfsTer?)
c.1794_1795insGATT (p.Gln599AspfsTer?)
n.2512_2513insGATT
n.2526_2527insGATT
 gnomAD v4
2g.43877901_43877916delCA2658838106ABCG8c.2010_*3del (n.[c.2010_*3del;Ser670ArgfsTer12])
c.2007_*3del (n.[c.2007_*3del;Ser669ArgfsTer12])
c.2022_*3del (n.[c.2022_*3del;Ser674ArgfsTer12])
c.2019_*3del (n.[c.2019_*3del;Ser673ArgfsTer12])
c.1794_*3del (n.[c.1794_*3del;Ser598ArgfsTer12])
n.2512_2527del
n.2526_2541del
 gnomAD v4
2g.43877902C>ACA346671598ABCG8c.2011C>A (p.Gln671Lys)
c.2008C>A (p.Gln670Lys)
c.2023C>A (p.Gln675Lys)
c.2020C>A (p.Gln674Lys)
c.1795C>A (p.Gln599Lys)
n.2513C>A
n.2527C>A
2g.43877902C>GCA346671600ABCG8c.2011C>G (p.Gln671Glu)
c.2008C>G (p.Gln670Glu)
c.2023C>G (p.Gln675Glu)
c.2020C>G (p.Gln674Glu)
c.1795C>G (p.Gln599Glu)
n.2513C>G
n.2527C>G
 gnomAD v4
2g.43877902C>TCA346671601ABCG8c.2011C>T (p.Gln671Ter)
c.2008C>T (p.Gln670Ter)
c.2023C>T (p.Gln675Ter)
c.2020C>T (p.Gln674Ter)
c.1795C>T (p.Gln599Ter)
n.2513C>T
n.2527C>T
2g.43877903A>CCA346671604ABCG8c.2012A>C (p.Gln671Pro)
c.2009A>C (p.Gln670Pro)
c.2024A>C (p.Gln675Pro)
c.2021A>C (p.Gln674Pro)
c.1796A>C (p.Gln599Pro)
n.2514A>C
n.2528A>C
2g.43877903A>GCA346671606ABCG8c.2012A>G (p.Gln671Arg)
c.2009A>G (p.Gln670Arg)
c.2024A>G (p.Gln675Arg)
c.2021A>G (p.Gln674Arg)
c.1796A>G (p.Gln599Arg)
n.2514A>G
n.2528A>G
2g.43877903A>TCA346671607ABCG8c.2012A>T (p.Gln671Leu)
c.2009A>T (p.Gln670Leu)
c.2024A>T (p.Gln675Leu)
c.2021A>T (p.Gln674Leu)
c.1796A>T (p.Gln599Leu)
n.2514A>T
n.2528A>T
2g.43877904A=CA2493965179ABCG8c.2013A= (p.Gln671=)
c.2010A= (p.Gln670=)
c.2025A= (p.Gln675=)
c.2022A= (p.Gln674=)
c.1797A= (p.Gln599=)
n.2515A=
n.2529A=
2g.43877904A>CCA346671611ABCG8c.2013A>C (p.Gln671His)
c.2010A>C (p.Gln670His)
c.2025A>C (p.Gln675His)
c.2022A>C (p.Gln674His)
c.1797A>C (p.Gln599His)
n.2515A>C
n.2529A>C
2g.43877904A>GCA46474808ABCG8c.2013A>G (p.Gln671=)
c.2010A>G (p.Gln670=)
c.2025A>G (p.Gln675=)
c.2022A>G (p.Gln674=)
c.1797A>G (p.Gln599=)
n.2515A>G
n.2529A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877904A>TCA346671608ABCG8c.2013A>T (p.Gln671His)
c.2010A>T (p.Gln670His)
c.2025A>T (p.Gln675His)
c.2022A>T (p.Gln674His)
c.1797A>T (p.Gln599His)
n.2515A>T
n.2529A>T
2g.43877905G>ACA1637734ABCG8c.2014G>A (p.Asp672Asn)
c.2011G>A (p.Asp671Asn)
c.2026G>A (p.Asp676Asn)
c.2023G>A (p.Asp675Asn)
c.1798G>A (p.Asp600Asn)
n.2516G>A
n.2530G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877905G>CCA346671614ABCG8c.2014G>C (p.Asp672His)
c.2011G>C (p.Asp671His)
c.2026G>C (p.Asp676His)
c.2023G>C (p.Asp675His)
c.1798G>C (p.Asp600His)
n.2516G>C
n.2530G>C
2g.43877905G=CA2493965180ABCG8c.2014G= (p.Asp672=)
c.2011G= (p.Asp671=)
c.2026G= (p.Asp676=)
c.2023G= (p.Asp675=)
c.1798G= (p.Asp600=)
n.2516G=
n.2530G=
2g.43877905G>TCA346671615ABCG8c.2014G>T (p.Asp672Tyr)
c.2011G>T (p.Asp671Tyr)
c.2026G>T (p.Asp676Tyr)
c.2023G>T (p.Asp675Tyr)
c.1798G>T (p.Asp600Tyr)
n.2516G>T
n.2530G>T
2g.43877906A=CA2493965181ABCG8c.2015A= (p.Asp672=)
c.2012A= (p.Asp671=)
c.2027A= (p.Asp676=)
c.2024A= (p.Asp675=)
c.1799A= (p.Asp600=)
n.2517A=
n.2531A=
2g.43877906A>CCA346671617ABCG8c.2015A>C (p.Asp672Ala)
c.2012A>C (p.Asp671Ala)
c.2027A>C (p.Asp676Ala)
c.2024A>C (p.Asp675Ala)
c.1799A>C (p.Asp600Ala)
n.2517A>C
n.2531A>C
2g.43877906A>GCA346671619ABCG8c.2015A>G (p.Asp672Gly)
c.2012A>G (p.Asp671Gly)
c.2027A>G (p.Asp676Gly)
c.2024A>G (p.Asp675Gly)
c.1799A>G (p.Asp600Gly)
n.2517A>G
n.2531A>G
2g.43877906A>TCA46474829ABCG8c.2015A>T (p.Asp672Val)
c.2012A>T (p.Asp671Val)
c.2027A>T (p.Asp676Val)
c.2024A>T (p.Asp675Val)
c.1799A>T (p.Asp600Val)
n.2517A>T
n.2531A>T
 dbSNP gnomAD v4
2g.43877907C>ACA346671620ABCG8c.2016C>A (p.Asp672Glu)
c.2013C>A (p.Asp671Glu)
c.2028C>A (p.Asp676Glu)
c.2025C>A (p.Asp675Glu)
c.1800C>A (p.Asp600Glu)
n.2518C>A
n.2532C>A
 gnomAD v4
2g.43877907C>GCA346671622ABCG8c.2016C>G (p.Asp672Glu)
c.2013C>G (p.Asp671Glu)
c.2028C>G (p.Asp676Glu)
c.2025C>G (p.Asp675Glu)
c.1800C>G (p.Asp600Glu)
n.2518C>G
n.2532C>G
 gnomAD v4
2g.43877907C>TCA425908361ABCG8c.2016C>T (p.Asp672=)
c.2013C>T (p.Asp671=)
c.2028C>T (p.Asp676=)
c.2025C>T (p.Asp675=)
c.1800C>T (p.Asp600=)
n.2518C>T
n.2532C>T
2g.43877908T>ACA346671625ABCG8c.2017T>A (p.Trp673Arg)
c.2014T>A (p.Trp672Arg)
c.2029T>A (p.Trp677Arg)
c.2026T>A (p.Trp676Arg)
c.1801T>A (p.Trp601Arg)
n.2519T>A
n.2533T>A
2g.43877908T>CCA1637735ABCG8c.2017T>C (p.Trp673Arg)
c.2014T>C (p.Trp672Arg)
c.2029T>C (p.Trp677Arg)
c.2026T>C (p.Trp676Arg)
c.1801T>C (p.Trp601Arg)
n.2519T>C
n.2533T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877908T>GCA346671627ABCG8c.2017T>G (p.Trp673Gly)
c.2014T>G (p.Trp672Gly)
c.2029T>G (p.Trp677Gly)
c.2026T>G (p.Trp676Gly)
c.1801T>G (p.Trp601Gly)
n.2519T>G
n.2533T>G
2g.43877908T=CA2493965182ABCG8c.2017T= (p.Trp673=)
c.2014T= (p.Trp672=)
c.2029T= (p.Trp677=)
c.2026T= (p.Trp676=)
c.1801T= (p.Trp601=)
n.2519T=
n.2533T=
2g.43877909G>ACA346671631ABCG8c.2018G>A (p.Trp673Ter)
c.2015G>A (p.Trp672Ter)
c.2030G>A (p.Trp677Ter)
c.2027G>A (p.Trp676Ter)
c.1802G>A (p.Trp601Ter)
n.2520G>A
n.2534G>A
 gnomAD v4
2g.43877909G>CCA346671630ABCG8c.2018G>C (p.Trp673Ser)
c.2015G>C (p.Trp672Ser)
c.2030G>C (p.Trp677Ser)
c.2027G>C (p.Trp676Ser)
c.1802G>C (p.Trp601Ser)
n.2520G>C
n.2534G>C
2g.43877909G>TCA346671629ABCG8c.2018G>T (p.Trp673Leu)
c.2015G>T (p.Trp672Leu)
c.2030G>T (p.Trp677Leu)
c.2027G>T (p.Trp676Leu)
c.1802G>T (p.Trp601Leu)
n.2520G>T
n.2534G>T
 gnomAD v4
2g.43877910G>ACA346671632ABCG8c.2019G>A (p.Trp673Ter)
c.2016G>A (p.Trp672Ter)
c.2031G>A (p.Trp677Ter)
c.2028G>A (p.Trp676Ter)
c.1803G>A (p.Trp601Ter)
n.2521G>A
n.2535G>A
 dbSNP gnomAD v3 gnomAD v4
2g.43877910G>CCA1637736ABCG8c.2019G>C (p.Trp673Cys)
c.2016G>C (p.Trp672Cys)
c.2031G>C (p.Trp677Cys)
c.2028G>C (p.Trp676Cys)
c.1803G>C (p.Trp601Cys)
n.2521G>C
n.2535G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877910G=CA2493965183ABCG8c.2019G= (p.Trp673=)
c.2016G= (p.Trp672=)
c.2031G= (p.Trp677=)
c.2028G= (p.Trp676=)
c.1803G= (p.Trp601=)
n.2521G=
n.2535G=
2g.43877910G>TCA346671634ABCG8c.2019G>T (p.Trp673Cys)
c.2016G>T (p.Trp672Cys)
c.2031G>T (p.Trp677Cys)
c.2028G>T (p.Trp676Cys)
c.1803G>T (p.Trp601Cys)
n.2521G>T
n.2535G>T
2g.43877911T>ACA346671636ABCG8c.2020T>A (p.Ter674Arg)
c.2017T>A (p.Ter673Arg)
c.2032T>A (p.Ter678Arg)
c.2029T>A (p.Ter677Arg)
c.1804T>A (p.Ter602Arg)
n.2522T>A
n.2536T>A
2g.43877911T>CCA346671638ABCG8c.2020T>C (p.Ter674Arg)
c.2017T>C (p.Ter673Arg)
c.2032T>C (p.Ter678Arg)
c.2029T>C (p.Ter677Arg)
c.1804T>C (p.Ter602Arg)
n.2522T>C
n.2536T>C
2g.43877911T>GCA346671640ABCG8c.2020T>G (p.Ter674Gly)
c.2017T>G (p.Ter673Gly)
c.2032T>G (p.Ter678Gly)
c.2029T>G (p.Ter677Gly)
c.1804T>G (p.Ter602Gly)
n.2522T>G
n.2536T>G
2g.43877912G>ACA1637737ABCG8c.2021G>A (p.Ter674=)
c.2018G>A (p.Ter673=)
c.2033G>A (p.Ter678=)
c.2030G>A (p.Ter677=)
c.1805G>A (p.Ter602=)
n.2523G>A
n.2537G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877912G>CCA346671643ABCG8c.2021G>C (p.Ter674Ser)
c.2018G>C (p.Ter673Ser)
c.2033G>C (p.Ter678Ser)
c.2030G>C (p.Ter677Ser)
c.1805G>C (p.Ter602Ser)
n.2523G>C
n.2537G>C
2g.43877912G=CA2493965184ABCG8c.2021G= (p.Ter674=)
c.2018G= (p.Ter673=)
c.2033G= (p.Ter678=)
c.2030G= (p.Ter677=)
c.1805G= (p.Ter602=)
n.2523G=
n.2537G=
2g.43877912G>TCA346671644ABCG8c.2021G>T (p.Ter674Leu)
c.2018G>T (p.Ter673Leu)
c.2033G>T (p.Ter678Leu)
c.2030G>T (p.Ter677Leu)
c.1805G>T (p.Ter602Leu)
n.2523G>T
n.2537G>T
2g.43877913A=CA2493965185ABCG8c.2022A= (p.Ter674=)
c.2019A= (p.Ter673=)
c.2034A= (p.Ter678=)
c.2031A= (p.Ter677=)
c.1806A= (p.Ter602=)
n.2524A=
n.2538A=
2g.43877913A>CCA346671647ABCG8c.2022A>C (p.Ter674Cys)
c.2019A>C (p.Ter673Cys)
c.2034A>C (p.Ter678Cys)
c.2031A>C (p.Ter677Cys)
c.1806A>C (p.Ter602Cys)
n.2524A>C
n.2538A>C
2g.43877913A>GCA346671648ABCG8c.2022A>G (p.Ter674Trp)
c.2019A>G (p.Ter673Trp)
c.2034A>G (p.Ter678Trp)
c.2031A>G (p.Ter677Trp)
c.1806A>G (p.Ter602Trp)
n.2524A>G
n.2538A>G
 dbSNP gnomAD v4
2g.43877913A>TCA346671649ABCG8c.2022A>T (p.Ter674Cys)
c.2019A>T (p.Ter673Cys)
c.2034A>T (p.Ter678Cys)
c.2031A>T (p.Ter677Cys)
c.1806A>T (p.Ter602Cys)
n.2524A>T
n.2538A>T
 gnomAD v4

Number of alleles fetched