Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.43875191G>ACA1637536ABCG8c.1534G>A (p.Gly512Arg)
c.1531G>A (p.Gly511Arg)
c.1546G>A (p.Gly516Arg)
c.1543G>A (p.Gly515Arg)
c.1318G>A (p.Gly440Arg)
n.2036G>A
n.2050G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875191G>CCA346670292ABCG8c.1534G>C (p.Gly512Arg)
c.1531G>C (p.Gly511Arg)
c.1546G>C (p.Gly516Arg)
c.1543G>C (p.Gly515Arg)
c.1318G>C (p.Gly440Arg)
n.2036G>C
n.2050G>C
 dbSNP gnomAD v2 gnomAD v4
2g.43875191G=CA2493963611ABCG8c.1534G= (p.Gly512=)
c.1531G= (p.Gly511=)
c.1546G= (p.Gly516=)
c.1543G= (p.Gly515=)
c.1318G= (p.Gly440=)
n.2036G=
n.2050G=
2g.43875191G>TCA346670293ABCG8c.1534G>T (p.Gly512Trp)
c.1531G>T (p.Gly511Trp)
c.1546G>T (p.Gly516Trp)
c.1543G>T (p.Gly515Trp)
c.1318G>T (p.Gly440Trp)
n.2036G>T
n.2050G>T
2g.43875192G>ACA346670294ABCG8c.1535G>A (p.Gly512Glu)
c.1532G>A (p.Gly511Glu)
c.1547G>A (p.Gly516Glu)
c.1544G>A (p.Gly515Glu)
c.1319G>A (p.Gly440Glu)
n.2037G>A
n.2051G>A
2g.43875192G>CCA346670295ABCG8c.1535G>C (p.Gly512Ala)
c.1532G>C (p.Gly511Ala)
c.1547G>C (p.Gly516Ala)
c.1544G>C (p.Gly515Ala)
c.1319G>C (p.Gly440Ala)
n.2037G>C
n.2051G>C
2g.43875192G>TCA346670296ABCG8c.1535G>T (p.Gly512Val)
c.1532G>T (p.Gly511Val)
c.1547G>T (p.Gly516Val)
c.1544G>T (p.Gly515Val)
c.1319G>T (p.Gly440Val)
n.2037G>T
n.2051G>T
2g.43875193G>ACA425908141ABCG8c.1536G>A (p.Gly512=)
c.1533G>A (p.Gly511=)
c.1548G>A (p.Gly516=)
c.1545G>A (p.Gly515=)
c.1320G>A (p.Gly440=)
n.2038G>A
n.2052G>A
2g.43875193G>CCA425908140ABCG8c.1536G>C (p.Gly512=)
c.1533G>C (p.Gly511=)
c.1548G>C (p.Gly516=)
c.1545G>C (p.Gly515=)
c.1320G>C (p.Gly440=)
n.2038G>C
n.2052G>C
2g.43875193G>TCA425908139ABCG8c.1536G>T (p.Gly512=)
c.1533G>T (p.Gly511=)
c.1548G>T (p.Gly516=)
c.1545G>T (p.Gly515=)
c.1320G>T (p.Gly440=)
n.2038G>T
n.2052G>T
2g.43875194A>CCA346670297ABCG8c.1537A>C (p.Met513Leu)
c.1534A>C (p.Met512Leu)
c.1549A>C (p.Met517Leu)
c.1546A>C (p.Met516Leu)
c.1321A>C (p.Met441Leu)
n.2039A>C
n.2053A>C
2g.43875194A>GCA346670298ABCG8c.1537A>G (p.Met513Val)
c.1534A>G (p.Met512Val)
c.1549A>G (p.Met517Val)
c.1546A>G (p.Met516Val)
c.1321A>G (p.Met441Val)
n.2039A>G
n.2053A>G
2g.43875194A>TCA346670299ABCG8c.1537A>T (p.Met513Leu)
c.1534A>T (p.Met512Leu)
c.1549A>T (p.Met517Leu)
c.1546A>T (p.Met516Leu)
c.1321A>T (p.Met441Leu)
n.2039A>T
n.2053A>T
 gnomAD v4
2g.43875195T>ACA346670300ABCG8c.1538T>A (p.Met513Lys)
c.1535T>A (p.Met512Lys)
c.1550T>A (p.Met517Lys)
c.1547T>A (p.Met516Lys)
c.1322T>A (p.Met441Lys)
n.2040T>A
n.2054T>A
2g.43875195T>CCA346670301ABCG8c.1538T>C (p.Met513Thr)
c.1535T>C (p.Met512Thr)
c.1550T>C (p.Met517Thr)
c.1547T>C (p.Met516Thr)
c.1322T>C (p.Met441Thr)
n.2040T>C
n.2054T>C
2g.43875195T>GCA346670302ABCG8c.1538T>G (p.Met513Arg)
c.1535T>G (p.Met512Arg)
c.1550T>G (p.Met517Arg)
c.1547T>G (p.Met516Arg)
c.1322T>G (p.Met441Arg)
n.2040T>G
n.2054T>G
2g.43875196G>ACA346670304ABCG8c.1539G>A (p.Met513Ile)
c.1536G>A (p.Met512Ile)
c.1551G>A (p.Met517Ile)
c.1548G>A (p.Met516Ile)
c.1323G>A (p.Met441Ile)
n.2041G>A
n.2055G>A
 ClinVar gnomAD v4
2g.43875196G>CCA346670305ABCG8c.1539G>C (p.Met513Ile)
c.1536G>C (p.Met512Ile)
c.1551G>C (p.Met517Ile)
c.1548G>C (p.Met516Ile)
c.1323G>C (p.Met441Ile)
n.2041G>C
n.2055G>C
2g.43875196G>TCA346670303ABCG8c.1539G>T (p.Met513Ile)
c.1536G>T (p.Met512Ile)
c.1551G>T (p.Met517Ile)
c.1548G>T (p.Met516Ile)
c.1323G>T (p.Met441Ile)
n.2041G>T
n.2055G>T
2g.43875197C>ACA346670307ABCG8c.1540C>A (p.Pro514Thr)
c.1537C>A (p.Pro513Thr)
c.1552C>A (p.Pro518Thr)
c.1549C>A (p.Pro517Thr)
c.1324C>A (p.Pro442Thr)
n.2042C>A
n.2056C>A
 ClinVar gnomAD v4
2g.43875197C>GCA346670306ABCG8c.1540C>G (p.Pro514Ala)
c.1537C>G (p.Pro513Ala)
c.1552C>G (p.Pro518Ala)
c.1549C>G (p.Pro517Ala)
c.1324C>G (p.Pro442Ala)
n.2042C>G
n.2056C>G
2g.43875197C>TCA346670308ABCG8c.1540C>T (p.Pro514Ser)
c.1537C>T (p.Pro513Ser)
c.1552C>T (p.Pro518Ser)
c.1549C>T (p.Pro517Ser)
c.1324C>T (p.Pro442Ser)
n.2042C>T
n.2056C>T
 ClinVar gnomAD v4
2g.43875198C>ACA346670309ABCG8c.1541C>A (p.Pro514His)
c.1538C>A (p.Pro513His)
c.1553C>A (p.Pro518His)
c.1550C>A (p.Pro517His)
c.1325C>A (p.Pro442His)
n.2043C>A
n.2057C>A
 gnomAD v4
2g.43875198C=CA2493963612ABCG8c.1541C= (p.Pro514=)
c.1538C= (p.Pro513=)
c.1553C= (p.Pro518=)
c.1550C= (p.Pro517=)
c.1325C= (p.Pro442=)
n.2043C=
n.2057C=
2g.43875198C>GCA346670310ABCG8c.1541C>G (p.Pro514Arg)
c.1538C>G (p.Pro513Arg)
c.1553C>G (p.Pro518Arg)
c.1550C>G (p.Pro517Arg)
c.1325C>G (p.Pro442Arg)
n.2043C>G
n.2057C>G
2g.43875198C>TCA46470850ABCG8c.1541C>T (p.Pro514Leu)
c.1538C>T (p.Pro513Leu)
c.1553C>T (p.Pro518Leu)
c.1550C>T (p.Pro517Leu)
c.1325C>T (p.Pro442Leu)
n.2043C>T
n.2057C>T
 dbSNP
2g.43875199C>ACA425908142ABCG8c.1542C>A (p.Pro514=)
c.1539C>A (p.Pro513=)
c.1554C>A (p.Pro518=)
c.1551C>A (p.Pro517=)
c.1326C>A (p.Pro442=)
n.2044C>A
n.2058C>A
2g.43875199C=CA2493963613ABCG8c.1542C= (p.Pro514=)
c.1539C= (p.Pro513=)
c.1554C= (p.Pro518=)
c.1551C= (p.Pro517=)
c.1326C= (p.Pro442=)
n.2044C=
n.2058C=
2g.43875199C>GCA425908143ABCG8c.1542C>G (p.Pro514=)
c.1539C>G (p.Pro513=)
c.1554C>G (p.Pro518=)
c.1551C>G (p.Pro517=)
c.1326C>G (p.Pro442=)
n.2044C>G
n.2058C>G
2g.43875199C>TCA1637537ABCG8c.1542C>T (p.Pro514=)
c.1539C>T (p.Pro513=)
c.1554C>T (p.Pro518=)
c.1551C>T (p.Pro517=)
c.1326C>T (p.Pro442=)
n.2044C>T
n.2058C>T
 dbSNP ExAC gnomAD v4 COSMIC
2g.43875200A=CA2493963614ABCG8c.1543A= (p.Thr515=)
c.1540A= (p.Thr514=)
c.1555A= (p.Thr519=)
c.1552A= (p.Thr518=)
c.1327A= (p.Thr443=)
n.2045A=
n.2059A=
2g.43875200A>CCA346670311ABCG8c.1543A>C (p.Thr515Pro)
c.1540A>C (p.Thr514Pro)
c.1555A>C (p.Thr519Pro)
c.1552A>C (p.Thr518Pro)
c.1327A>C (p.Thr443Pro)
n.2045A>C
n.2059A>C
 dbSNP
2g.43875200A>GCA346670312ABCG8c.1543A>G (p.Thr515Ala)
c.1540A>G (p.Thr514Ala)
c.1555A>G (p.Thr519Ala)
c.1552A>G (p.Thr518Ala)
c.1327A>G (p.Thr443Ala)
n.2045A>G
n.2059A>G
2g.43875200A>TCA346670313ABCG8c.1543A>T (p.Thr515Ser)
c.1540A>T (p.Thr514Ser)
c.1555A>T (p.Thr519Ser)
c.1552A>T (p.Thr518Ser)
c.1327A>T (p.Thr443Ser)
n.2045A>T
n.2059A>T
2g.43875201C>ACA346670314ABCG8c.1544C>A (p.Thr515Asn)
c.1541C>A (p.Thr514Asn)
c.1556C>A (p.Thr519Asn)
c.1553C>A (p.Thr518Asn)
c.1328C>A (p.Thr443Asn)
n.2046C>A
n.2060C>A
2g.43875201C=CA2493963615ABCG8c.1544C= (p.Thr515=)
c.1541C= (p.Thr514=)
c.1556C= (p.Thr519=)
c.1553C= (p.Thr518=)
c.1328C= (p.Thr443=)
n.2046C=
n.2060C=
2g.43875201C>GCA346670315ABCG8c.1544C>G (p.Thr515Ser)
c.1541C>G (p.Thr514Ser)
c.1556C>G (p.Thr519Ser)
c.1553C>G (p.Thr518Ser)
c.1328C>G (p.Thr443Ser)
n.2046C>G
n.2060C>G
2g.43875201C>TCA346670316ABCG8c.1544C>T (p.Thr515Ile)
c.1541C>T (p.Thr514Ile)
c.1556C>T (p.Thr519Ile)
c.1553C>T (p.Thr518Ile)
c.1328C>T (p.Thr443Ile)
n.2046C>T
n.2060C>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875202C>ACA425908144ABCG8c.1545C>A (p.Thr515=)
c.1542C>A (p.Thr514=)
c.1557C>A (p.Thr519=)
c.1554C>A (p.Thr518=)
c.1329C>A (p.Thr443=)
n.2047C>A
n.2061C>A
 dbSNP gnomAD v3 gnomAD v4
2g.43875202C=CA2493963616ABCG8c.1545C= (p.Thr515=)
c.1542C= (p.Thr514=)
c.1557C= (p.Thr519=)
c.1554C= (p.Thr518=)
c.1329C= (p.Thr443=)
n.2047C=
n.2061C=
2g.43875202C>GCA1637539ABCG8c.1545C>G (p.Thr515=)
c.1542C>G (p.Thr514=)
c.1557C>G (p.Thr519=)
c.1554C>G (p.Thr518=)
c.1329C>G (p.Thr443=)
n.2047C>G
n.2061C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875202C>TCA1637538ABCG8c.1545C>T (p.Thr515=)
c.1542C>T (p.Thr514=)
c.1557C>T (p.Thr519=)
c.1554C>T (p.Thr518=)
c.1329C>T (p.Thr443=)
n.2047C>T
n.2061C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875203T>ACA346670319ABCG8c.1546T>A (p.Tyr516Asn)
c.1543T>A (p.Tyr515Asn)
c.1558T>A (p.Tyr520Asn)
c.1555T>A (p.Tyr519Asn)
c.1330T>A (p.Tyr444Asn)
n.2048T>A
n.2062T>A
 gnomAD v4
2g.43875203T>CCA346670317ABCG8c.1546T>C (p.Tyr516His)
c.1543T>C (p.Tyr515His)
c.1558T>C (p.Tyr520His)
c.1555T>C (p.Tyr519His)
c.1330T>C (p.Tyr444His)
n.2048T>C
n.2062T>C
 gnomAD v4
2g.43875203T>GCA346670318ABCG8c.1546T>G (p.Tyr516Asp)
c.1543T>G (p.Tyr515Asp)
c.1558T>G (p.Tyr520Asp)
c.1555T>G (p.Tyr519Asp)
c.1330T>G (p.Tyr444Asp)
n.2048T>G
n.2062T>G
2g.43875204A=CA2493963617ABCG8c.1547A= (p.Tyr516=)
c.1544A= (p.Tyr515=)
c.1559A= (p.Tyr520=)
c.1556A= (p.Tyr519=)
c.1331A= (p.Tyr444=)
n.2049A=
n.2063A=
2g.43875204A>CCA346670320ABCG8c.1547A>C (p.Tyr516Ser)
c.1544A>C (p.Tyr515Ser)
c.1559A>C (p.Tyr520Ser)
c.1556A>C (p.Tyr519Ser)
c.1331A>C (p.Tyr444Ser)
n.2049A>C
n.2063A>C
 ClinVar dbSNP
2g.43875204A>GCA346670321ABCG8c.1547A>G (p.Tyr516Cys)
c.1544A>G (p.Tyr515Cys)
c.1559A>G (p.Tyr520Cys)
c.1556A>G (p.Tyr519Cys)
c.1331A>G (p.Tyr444Cys)
n.2049A>G
n.2063A>G
2g.43875204A>TCA346670322ABCG8c.1547A>T (p.Tyr516Phe)
c.1544A>T (p.Tyr515Phe)
c.1559A>T (p.Tyr520Phe)
c.1556A>T (p.Tyr519Phe)
c.1331A>T (p.Tyr444Phe)
n.2049A>T
n.2063A>T
2g.43875205C>ACA346670323ABCG8c.1548C>A (p.Tyr516Ter)
c.1545C>A (p.Tyr515Ter)
c.1560C>A (p.Tyr520Ter)
c.1557C>A (p.Tyr519Ter)
c.1332C>A (p.Tyr444Ter)
n.2050C>A
n.2064C>A
2g.43875205C=CA2493963618ABCG8c.1548C= (p.Tyr516=)
c.1545C= (p.Tyr515=)
c.1560C= (p.Tyr520=)
c.1557C= (p.Tyr519=)
c.1332C= (p.Tyr444=)
n.2050C=
n.2064C=
2g.43875205C>GCA346670324ABCG8c.1548C>G (p.Tyr516Ter)
c.1545C>G (p.Tyr515Ter)
c.1560C>G (p.Tyr520Ter)
c.1557C>G (p.Tyr519Ter)
c.1332C>G (p.Tyr444Ter)
n.2050C>G
n.2064C>G
 dbSNP
2g.43875205C>TCA426116340ABCG8c.1548C>T (p.Tyr516=)
c.1545C>T (p.Tyr515=)
c.1560C>T (p.Tyr520=)
c.1557C>T (p.Tyr519=)
c.1332C>T (p.Tyr444=)
n.2050C>T
n.2064C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43875206T>ACA346670325ABCG8c.1549T>A (p.Trp517Arg)
c.1546T>A (p.Trp516Arg)
c.1561T>A (p.Trp521Arg)
c.1558T>A (p.Trp520Arg)
c.1333T>A (p.Trp445Arg)
n.2051T>A
n.2065T>A
 gnomAD v4
2g.43875206T>CCA1637540ABCG8c.1549T>C (p.Trp517Arg)
c.1546T>C (p.Trp516Arg)
c.1561T>C (p.Trp521Arg)
c.1558T>C (p.Trp520Arg)
c.1333T>C (p.Trp445Arg)
n.2051T>C
n.2065T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875206T>GCA346670326ABCG8c.1549T>G (p.Trp517Gly)
c.1546T>G (p.Trp516Gly)
c.1561T>G (p.Trp521Gly)
c.1558T>G (p.Trp520Gly)
c.1333T>G (p.Trp445Gly)
n.2051T>G
n.2065T>G
2g.43875206T=CA2493963619ABCG8c.1549T= (p.Trp517=)
c.1546T= (p.Trp516=)
c.1561T= (p.Trp521=)
c.1558T= (p.Trp520=)
c.1333T= (p.Trp445=)
n.2051T=
n.2065T=
2g.43875207G>ACA346670327ABCG8c.1550G>A (p.Trp517Ter)
c.1547G>A (p.Trp516Ter)
c.1562G>A (p.Trp521Ter)
c.1559G>A (p.Trp520Ter)
c.1334G>A (p.Trp445Ter)
n.2052G>A
n.2066G>A
2g.43875207G>CCA346670328ABCG8c.1550G>C (p.Trp517Ser)
c.1547G>C (p.Trp516Ser)
c.1562G>C (p.Trp521Ser)
c.1559G>C (p.Trp520Ser)
c.1334G>C (p.Trp445Ser)
n.2052G>C
n.2066G>C
2g.43875207G>TCA346670329ABCG8c.1550G>T (p.Trp517Leu)
c.1547G>T (p.Trp516Leu)
c.1562G>T (p.Trp521Leu)
c.1559G>T (p.Trp520Leu)
c.1334G>T (p.Trp445Leu)
n.2052G>T
n.2066G>T
2g.43875208G>ACA346670331ABCG8c.1551G>A (p.Trp517Ter)
c.1548G>A (p.Trp516Ter)
c.1563G>A (p.Trp521Ter)
c.1560G>A (p.Trp520Ter)
c.1335G>A (p.Trp445Ter)
n.2053G>A
n.2067G>A
2g.43875208G>CCA346670332ABCG8c.1551G>C (p.Trp517Cys)
c.1548G>C (p.Trp516Cys)
c.1563G>C (p.Trp521Cys)
c.1560G>C (p.Trp520Cys)
c.1335G>C (p.Trp445Cys)
n.2053G>C
n.2067G>C
2g.43875208G>TCA346670330ABCG8c.1551G>T (p.Trp517Cys)
c.1548G>T (p.Trp516Cys)
c.1563G>T (p.Trp521Cys)
c.1560G>T (p.Trp520Cys)
c.1335G>T (p.Trp445Cys)
n.2053G>T
n.2067G>T
2g.43875209C>ACA346670333ABCG8c.1552C>A (p.Leu518Met)
c.1549C>A (p.Leu517Met)
c.1564C>A (p.Leu522Met)
c.1561C>A (p.Leu521Met)
c.1336C>A (p.Leu446Met)
n.2054C>A
n.2068C>A
2g.43875209C>GCA346670334ABCG8c.1552C>G (p.Leu518Val)
c.1549C>G (p.Leu517Val)
c.1564C>G (p.Leu522Val)
c.1561C>G (p.Leu521Val)
c.1336C>G (p.Leu446Val)
n.2054C>G
n.2068C>G
2g.43875209C>TCA426116341ABCG8c.1552C>T (p.Leu518=)
c.1549C>T (p.Leu517=)
c.1564C>T (p.Leu522=)
c.1561C>T (p.Leu521=)
c.1336C>T (p.Leu446=)
n.2054C>T
n.2068C>T
2g.43875210T>ACA346670335ABCG8c.1553T>A (p.Leu518Gln)
c.1550T>A (p.Leu517Gln)
c.1565T>A (p.Leu522Gln)
c.1562T>A (p.Leu521Gln)
c.1337T>A (p.Leu446Gln)
n.2055T>A
n.2069T>A
2g.43875210T>CCA346670336ABCG8c.1553T>C (p.Leu518Pro)
c.1550T>C (p.Leu517Pro)
c.1565T>C (p.Leu522Pro)
c.1562T>C (p.Leu521Pro)
c.1337T>C (p.Leu446Pro)
n.2055T>C
n.2069T>C
2g.43875210T>GCA346670337ABCG8c.1553T>G (p.Leu518Arg)
c.1550T>G (p.Leu517Arg)
c.1565T>G (p.Leu522Arg)
c.1562T>G (p.Leu521Arg)
c.1337T>G (p.Leu446Arg)
n.2055T>G
n.2069T>G
2g.43875210T=CA2493963620ABCG8c.1553T= (p.Leu518=)
c.1550T= (p.Leu517=)
c.1565T= (p.Leu522=)
c.1562T= (p.Leu521=)
c.1337T= (p.Leu446=)
n.2055T=
n.2069T=
2g.43875211G>ACA426116343ABCG8c.1554G>A (p.Leu518=)
c.1551G>A (p.Leu517=)
c.1566G>A (p.Leu522=)
c.1563G>A (p.Leu521=)
c.1338G>A (p.Leu446=)
n.2056G>A
n.2070G>A
2g.43875211G>CCA426116344ABCG8c.1554G>C (p.Leu518=)
c.1551G>C (p.Leu517=)
c.1566G>C (p.Leu522=)
c.1563G>C (p.Leu521=)
c.1338G>C (p.Leu446=)
n.2056G>C
n.2070G>C
2g.43875211G>TCA426116342ABCG8c.1554G>T (p.Leu518=)
c.1551G>T (p.Leu517=)
c.1566G>T (p.Leu522=)
c.1563G>T (p.Leu521=)
c.1338G>T (p.Leu446=)
n.2056G>T
n.2070G>T
 gnomAD v4
2g.43875212dupCA2493963621ABCG8c.1555dup (p.Ala519GlyfsTer?)
c.1552dup (p.Ala518GlyfsTer?)
c.1567dup (p.Ala523GlyfsTer?)
c.1564dup (p.Ala522GlyfsTer?)
c.1339dup (p.Ala447GlyfsTer?)
n.2057dup
n.2071dup
 dbSNP
2g.43875212G>ACA346670338ABCG8c.1555G>A (p.Ala519Thr)
c.1552G>A (p.Ala518Thr)
c.1567G>A (p.Ala523Thr)
c.1564G>A (p.Ala522Thr)
c.1339G>A (p.Ala447Thr)
n.2057G>A
n.2071G>A
2g.43875212G>CCA346670339ABCG8c.1555G>C (p.Ala519Pro)
c.1552G>C (p.Ala518Pro)
c.1567G>C (p.Ala523Pro)
c.1564G>C (p.Ala522Pro)
c.1339G>C (p.Ala447Pro)
n.2057G>C
n.2071G>C
2g.43875212G=CA2493963622ABCG8c.1555G= (p.Ala519=)
c.1552G= (p.Ala518=)
c.1567G= (p.Ala523=)
c.1564G= (p.Ala522=)
c.1339G= (p.Ala447=)
n.2057G=
n.2071G=
2g.43875212G>TCA346670340ABCG8c.1555G>T (p.Ala519Ser)
c.1552G>T (p.Ala518Ser)
c.1567G>T (p.Ala523Ser)
c.1564G>T (p.Ala522Ser)
c.1339G>T (p.Ala447Ser)
n.2057G>T
n.2071G>T
 dbSNP gnomAD v4
2g.43875213C>ACA1637542ABCG8c.1556C>A (p.Ala519Asp)
c.1553C>A (p.Ala518Asp)
c.1568C>A (p.Ala523Asp)
c.1565C>A (p.Ala522Asp)
c.1340C>A (p.Ala447Asp)
n.2058C>A
n.2072C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875213C=CA2493963623ABCG8c.1556C= (p.Ala519=)
c.1553C= (p.Ala518=)
c.1568C= (p.Ala523=)
c.1565C= (p.Ala522=)
c.1340C= (p.Ala447=)
n.2058C=
n.2072C=
2g.43875213C>GCA1637541ABCG8c.1556C>G (p.Ala519Gly)
c.1553C>G (p.Ala518Gly)
c.1568C>G (p.Ala523Gly)
c.1565C>G (p.Ala522Gly)
c.1340C>G (p.Ala447Gly)
n.2058C>G
n.2072C>G
 dbSNP ExAC gnomAD v2
2g.43875213C>TCA346670341ABCG8c.1556C>T (p.Ala519Val)
c.1553C>T (p.Ala518Val)
c.1568C>T (p.Ala523Val)
c.1565C>T (p.Ala522Val)
c.1340C>T (p.Ala447Val)
n.2058C>T
n.2072C>T
 ClinVar dbSNP gnomAD v4
2g.43875214C>ACA426116345ABCG8c.1557C>A (p.Ala519=)
c.1554C>A (p.Ala518=)
c.1569C>A (p.Ala523=)
c.1566C>A (p.Ala522=)
c.1341C>A (p.Ala447=)
n.2059C>A
n.2073C>A
2g.43875214C=CA2493963624ABCG8c.1557C= (p.Ala519=)
c.1554C= (p.Ala518=)
c.1569C= (p.Ala523=)
c.1566C= (p.Ala522=)
c.1341C= (p.Ala447=)
n.2059C=
n.2073C=
2g.43875214C>GCA426116346ABCG8c.1557C>G (p.Ala519=)
c.1554C>G (p.Ala518=)
c.1569C>G (p.Ala523=)
c.1566C>G (p.Ala522=)
c.1341C>G (p.Ala447=)
n.2059C>G
n.2073C>G
 gnomAD v4
2g.43875214C>TCA1637543ABCG8c.1557C>T (p.Ala519=)
c.1554C>T (p.Ala518=)
c.1569C>T (p.Ala523=)
c.1566C>T (p.Ala522=)
c.1341C>T (p.Ala447=)
n.2059C>T
n.2073C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875215A=CA2493963625ABCG8c.1558A= (p.Asn520=)
c.1555A= (p.Asn519=)
c.1570A= (p.Asn524=)
c.1567A= (p.Asn523=)
c.1342A= (p.Asn448=)
n.2060A=
n.2074A=
2g.43875215A>CCA346670343ABCG8c.1558A>C (p.Asn520His)
c.1555A>C (p.Asn519His)
c.1570A>C (p.Asn524His)
c.1567A>C (p.Asn523His)
c.1342A>C (p.Asn448His)
n.2060A>C
n.2074A>C
 dbSNP
2g.43875215A>GCA346670344ABCG8c.1558A>G (p.Asn520Asp)
c.1555A>G (p.Asn519Asp)
c.1570A>G (p.Asn524Asp)
c.1567A>G (p.Asn523Asp)
c.1342A>G (p.Asn448Asp)
n.2060A>G
n.2074A>G
2g.43875215A>TCA346670342ABCG8c.1558A>T (p.Asn520Tyr)
c.1555A>T (p.Asn519Tyr)
c.1570A>T (p.Asn524Tyr)
c.1567A>T (p.Asn523Tyr)
c.1342A>T (p.Asn448Tyr)
n.2060A>T
n.2074A>T
2g.43875216A=CA2493963626ABCG8c.1559A= (p.Asn520=)
c.1556A= (p.Asn519=)
c.1571A= (p.Asn524=)
c.1568A= (p.Asn523=)
c.1343A= (p.Asn448=)
n.2061A=
n.2075A=
2g.43875216A>CCA346670345ABCG8c.1559A>C (p.Asn520Thr)
c.1556A>C (p.Asn519Thr)
c.1571A>C (p.Asn524Thr)
c.1568A>C (p.Asn523Thr)
c.1343A>C (p.Asn448Thr)
n.2061A>C
n.2075A>C
 dbSNP gnomAD v4
2g.43875216A>GCA1637544ABCG8c.1559A>G (p.Asn520Ser)
c.1556A>G (p.Asn519Ser)
c.1571A>G (p.Asn524Ser)
c.1568A>G (p.Asn523Ser)
c.1343A>G (p.Asn448Ser)
n.2061A>G
n.2075A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875216A>TCA346670346ABCG8c.1559A>T (p.Asn520Ile)
c.1556A>T (p.Asn519Ile)
c.1571A>T (p.Asn524Ile)
c.1568A>T (p.Asn523Ile)
c.1343A>T (p.Asn448Ile)
n.2061A>T
n.2075A>T
2g.43875217C>ACA346670347ABCG8c.1560C>A (p.Asn520Lys)
c.1557C>A (p.Asn519Lys)
c.1572C>A (p.Asn524Lys)
c.1569C>A (p.Asn523Lys)
c.1344C>A (p.Asn448Lys)
n.2062C>A
n.2076C>A
 gnomAD v4
2g.43875217C=CA2493963627ABCG8c.1560C= (p.Asn520=)
c.1557C= (p.Asn519=)
c.1572C= (p.Asn524=)
c.1569C= (p.Asn523=)
c.1344C= (p.Asn448=)
n.2062C=
n.2076C=
2g.43875217C>GCA346670348ABCG8c.1560C>G (p.Asn520Lys)
c.1557C>G (p.Asn519Lys)
c.1572C>G (p.Asn524Lys)
c.1569C>G (p.Asn523Lys)
c.1344C>G (p.Asn448Lys)
n.2062C>G
n.2076C>G
2g.43875217C>TCA426116347ABCG8c.1560C>T (p.Asn520=)
c.1557C>T (p.Asn519=)
c.1572C>T (p.Asn524=)
c.1569C>T (p.Asn523=)
c.1344C>T (p.Asn448=)
n.2062C>T
n.2076C>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875218C>ACA346670349ABCG8c.1561C>A (p.Leu521Met)
c.1558C>A (p.Leu520Met)
c.1573C>A (p.Leu525Met)
c.1570C>A (p.Leu524Met)
c.1345C>A (p.Leu449Met)
n.2063C>A
n.2077C>A
2g.43875218C>GCA346670350ABCG8c.1561C>G (p.Leu521Val)
c.1558C>G (p.Leu520Val)
c.1573C>G (p.Leu525Val)
c.1570C>G (p.Leu524Val)
c.1345C>G (p.Leu449Val)
n.2063C>G
n.2077C>G
2g.43875218C>TCA426116348ABCG8c.1561C>T (p.Leu521=)
c.1558C>T (p.Leu520=)
c.1573C>T (p.Leu525=)
c.1570C>T (p.Leu524=)
c.1345C>T (p.Leu449=)
n.2063C>T
n.2077C>T
2g.43875219T>ACA346670351ABCG8c.1562T>A (p.Leu521Gln)
c.1559T>A (p.Leu520Gln)
c.1574T>A (p.Leu525Gln)
c.1571T>A (p.Leu524Gln)
c.1346T>A (p.Leu449Gln)
n.2064T>A
n.2078T>A
2g.43875219T>CCA346670353ABCG8c.1562T>C (p.Leu521Pro)
c.1559T>C (p.Leu520Pro)
c.1574T>C (p.Leu525Pro)
c.1571T>C (p.Leu524Pro)
c.1346T>C (p.Leu449Pro)
n.2064T>C
n.2078T>C
2g.43875219T>GCA346670352ABCG8c.1562T>G (p.Leu521Arg)
c.1559T>G (p.Leu520Arg)
c.1574T>G (p.Leu525Arg)
c.1571T>G (p.Leu524Arg)
c.1346T>G (p.Leu449Arg)
n.2064T>G
n.2078T>G
2g.43875220G>ACA426116349ABCG8c.1563G>A (p.Leu521=)
c.1560G>A (p.Leu520=)
c.1575G>A (p.Leu525=)
c.1572G>A (p.Leu524=)
c.1347G>A (p.Leu449=)
n.2065G>A
n.2079G>A
 COSMIC
2g.43875220G>CCA426116350ABCG8c.1563G>C (p.Leu521=)
c.1560G>C (p.Leu520=)
c.1575G>C (p.Leu525=)
c.1572G>C (p.Leu524=)
c.1347G>C (p.Leu449=)
n.2065G>C
n.2079G>C
2g.43875220G>TCA426116351ABCG8c.1563G>T (p.Leu521=)
c.1560G>T (p.Leu520=)
c.1575G>T (p.Leu525=)
c.1572G>T (p.Leu524=)
c.1347G>T (p.Leu449=)
n.2065G>T
n.2079G>T
2g.43875221A=CA2493963628ABCG8c.1564A= (p.Arg522=)
c.1561A= (p.Arg521=)
c.1576A= (p.Arg526=)
c.1573A= (p.Arg525=)
c.1348A= (p.Arg450=)
n.2066A=
n.2080A=
2g.43875221A>CCA426116352ABCG8c.1564A>C (p.Arg522=)
c.1561A>C (p.Arg521=)
c.1576A>C (p.Arg526=)
c.1573A>C (p.Arg525=)
c.1348A>C (p.Arg450=)
n.2066A>C
n.2080A>C
2g.43875221A>GCA1637545ABCG8c.1564A>G (p.Arg522Gly)
c.1561A>G (p.Arg521Gly)
c.1576A>G (p.Arg526Gly)
c.1573A>G (p.Arg525Gly)
c.1348A>G (p.Arg450Gly)
n.2066A>G
n.2080A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875221A>TCA346670354ABCG8c.1564A>T (p.Arg522Trp)
c.1561A>T (p.Arg521Trp)
c.1576A>T (p.Arg526Trp)
c.1573A>T (p.Arg525Trp)
c.1348A>T (p.Arg450Trp)
n.2066A>T
n.2080A>T
 dbSNP
2g.43875222G>ACA346670355ABCG8c.1565G>A (p.Arg522Lys)
c.1562G>A (p.Arg521Lys)
c.1577G>A (p.Arg526Lys)
c.1574G>A (p.Arg525Lys)
c.1349G>A (p.Arg450Lys)
n.2067G>A
n.2081G>A
2g.43875222G>CCA346670356ABCG8c.1565G>C (p.Arg522Thr)
c.1562G>C (p.Arg521Thr)
c.1577G>C (p.Arg526Thr)
c.1574G>C (p.Arg525Thr)
c.1349G>C (p.Arg450Thr)
n.2067G>C
n.2081G>C
2g.43875222G>TCA346670357ABCG8c.1565G>T (p.Arg522Met)
c.1562G>T (p.Arg521Met)
c.1577G>T (p.Arg526Met)
c.1574G>T (p.Arg525Met)
c.1349G>T (p.Arg450Met)
n.2067G>T
n.2081G>T
2g.43875223delCA2658831264ABCG8c.1566del (p.Arg522SerfsTer?)
c.1563del (p.Arg521SerfsTer?)
c.1578del (p.Arg526SerfsTer?)
c.1575del (p.Arg525SerfsTer?)
c.1350del (p.Arg450SerfsTer?)
n.2068del
n.2082del
 gnomAD v4
2g.43875223G>ACA426116353ABCG8c.1566G>A (p.Arg522=)
c.1563G>A (p.Arg521=)
c.1578G>A (p.Arg526=)
c.1575G>A (p.Arg525=)
c.1350G>A (p.Arg450=)
n.2068G>A
n.2082G>A
2g.43875223G>CCA346670358ABCG8c.1566G>C (p.Arg522Ser)
c.1563G>C (p.Arg521Ser)
c.1578G>C (p.Arg526Ser)
c.1575G>C (p.Arg525Ser)
c.1350G>C (p.Arg450Ser)
n.2068G>C
n.2082G>C
 dbSNP
2g.43875223G=CA2493963629ABCG8c.1566G= (p.Arg522=)
c.1563G= (p.Arg521=)
c.1578G= (p.Arg526=)
c.1575G= (p.Arg525=)
c.1350G= (p.Arg450=)
n.2068G=
n.2082G=
2g.43875223G>TCA46470920ABCG8c.1566G>T (p.Arg522Ser)
c.1563G>T (p.Arg521Ser)
c.1578G>T (p.Arg526Ser)
c.1575G>T (p.Arg525Ser)
c.1350G>T (p.Arg450Ser)
n.2068G>T
n.2082G>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875224C>ACA346670359ABCG8c.1567C>A (p.Pro523Thr)
c.1564C>A (p.Pro522Thr)
c.1579C>A (p.Pro527Thr)
c.1576C>A (p.Pro526Thr)
c.1351C>A (p.Pro451Thr)
n.2069C>A
n.2083C>A
2g.43875224C>GCA346670360ABCG8c.1567C>G (p.Pro523Ala)
c.1564C>G (p.Pro522Ala)
c.1579C>G (p.Pro527Ala)
c.1576C>G (p.Pro526Ala)
c.1351C>G (p.Pro451Ala)
n.2069C>G
n.2083C>G
 dbSNP gnomAD v4
2g.43875224C>TCA346670361ABCG8c.1567C>T (p.Pro523Ser)
c.1564C>T (p.Pro522Ser)
c.1579C>T (p.Pro527Ser)
c.1576C>T (p.Pro526Ser)
c.1351C>T (p.Pro451Ser)
n.2069C>T
n.2083C>T
 gnomAD v4 COSMIC
2g.43875225C>ACA346670362ABCG8c.1568C>A (p.Pro523Gln)
c.1565C>A (p.Pro522Gln)
c.1580C>A (p.Pro527Gln)
c.1577C>A (p.Pro526Gln)
c.1352C>A (p.Pro451Gln)
n.2070C>A
n.2084C>A
2g.43875225C=CA2493963630ABCG8c.1568C= (p.Pro523=)
c.1565C= (p.Pro522=)
c.1580C= (p.Pro527=)
c.1577C= (p.Pro526=)
c.1352C= (p.Pro451=)
n.2070C=
n.2084C=
2g.43875225C>GCA346670363ABCG8c.1568C>G (p.Pro523Arg)
c.1565C>G (p.Pro522Arg)
c.1580C>G (p.Pro527Arg)
c.1577C>G (p.Pro526Arg)
c.1352C>G (p.Pro451Arg)
n.2070C>G
n.2084C>G
2g.43875225C>TCA1637546ABCG8c.1568C>T (p.Pro523Leu)
c.1565C>T (p.Pro522Leu)
c.1580C>T (p.Pro527Leu)
c.1577C>T (p.Pro526Leu)
c.1352C>T (p.Pro451Leu)
n.2070C>T
n.2084C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875226A=CA2493963631ABCG8c.1569A= (p.Pro523=)
c.1566A= (p.Pro522=)
c.1581A= (p.Pro527=)
c.1578A= (p.Pro526=)
c.1353A= (p.Pro451=)
n.2071A=
n.2085A=
2g.43875226A>CCA426116354ABCG8c.1569A>C (p.Pro523=)
c.1566A>C (p.Pro522=)
c.1581A>C (p.Pro527=)
c.1578A>C (p.Pro526=)
c.1353A>C (p.Pro451=)
n.2071A>C
n.2085A>C
2g.43875226A>GCA1637547ABCG8c.1569A>G (p.Pro523=)
c.1566A>G (p.Pro522=)
c.1581A>G (p.Pro527=)
c.1578A>G (p.Pro526=)
c.1353A>G (p.Pro451=)
n.2071A>G
n.2085A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875226A>TCA426116355ABCG8c.1569A>T (p.Pro523=)
c.1566A>T (p.Pro522=)
c.1581A>T (p.Pro527=)
c.1578A>T (p.Pro526=)
c.1353A>T (p.Pro451=)
n.2071A>T
n.2085A>T
 gnomAD v4
2g.43875227G>ACA346670364ABCG8c.1570G>A (p.Gly524Ser)
c.1567G>A (p.Gly523Ser)
c.1582G>A (p.Gly528Ser)
c.1579G>A (p.Gly527Ser)
c.1354G>A (p.Gly452Ser)
n.2072G>A
n.2086G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875227G>CCA1637548ABCG8c.1570G>C (p.Gly524Arg)
c.1567G>C (p.Gly523Arg)
c.1582G>C (p.Gly528Arg)
c.1579G>C (p.Gly527Arg)
c.1354G>C (p.Gly452Arg)
n.2072G>C
n.2086G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875227G=CA2493963632ABCG8c.1570G= (p.Gly524=)
c.1567G= (p.Gly523=)
c.1582G= (p.Gly528=)
c.1579G= (p.Gly527=)
c.1354G= (p.Gly452=)
n.2072G=
n.2086G=
2g.43875227G>TCA346670365ABCG8c.1570G>T (p.Gly524Cys)
c.1567G>T (p.Gly523Cys)
c.1582G>T (p.Gly528Cys)
c.1579G>T (p.Gly527Cys)
c.1354G>T (p.Gly452Cys)
n.2072G>T
n.2086G>T
2g.43875228G>ACA1637549ABCG8c.1571G>A (p.Gly524Asp)
c.1568G>A (p.Gly523Asp)
c.1583G>A (p.Gly528Asp)
c.1580G>A (p.Gly527Asp)
c.1355G>A (p.Gly452Asp)
n.2073G>A
n.2087G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875228G>CCA346670366ABCG8c.1571G>C (p.Gly524Ala)
c.1568G>C (p.Gly523Ala)
c.1583G>C (p.Gly528Ala)
c.1580G>C (p.Gly527Ala)
c.1355G>C (p.Gly452Ala)
n.2073G>C
n.2087G>C
2g.43875228G=CA2493963633ABCG8c.1571G= (p.Gly524=)
c.1568G= (p.Gly523=)
c.1583G= (p.Gly528=)
c.1580G= (p.Gly527=)
c.1355G= (p.Gly452=)
n.2073G=
n.2087G=
2g.43875228G>TCA346670367ABCG8c.1571G>T (p.Gly524Val)
c.1568G>T (p.Gly523Val)
c.1583G>T (p.Gly528Val)
c.1580G>T (p.Gly527Val)
c.1355G>T (p.Gly452Val)
n.2073G>T
n.2087G>T
 gnomAD v4
2g.43875229C>ACA426116356ABCG8c.1572C>A (p.Gly524=)
c.1569C>A (p.Gly523=)
c.1584C>A (p.Gly528=)
c.1581C>A (p.Gly527=)
c.1356C>A (p.Gly452=)
n.2074C>A
n.2088C>A
 dbSNP gnomAD v2 gnomAD v4
2g.43875229C=CA2493963634ABCG8c.1572C= (p.Gly524=)
c.1569C= (p.Gly523=)
c.1584C= (p.Gly528=)
c.1581C= (p.Gly527=)
c.1356C= (p.Gly452=)
n.2074C=
n.2088C=
2g.43875229C>GCA426116357ABCG8c.1572C>G (p.Gly524=)
c.1569C>G (p.Gly523=)
c.1584C>G (p.Gly528=)
c.1581C>G (p.Gly527=)
c.1356C>G (p.Gly452=)
n.2074C>G
n.2088C>G
 dbSNP
2g.43875229C>TCA426116358ABCG8c.1572C>T (p.Gly524=)
c.1569C>T (p.Gly523=)
c.1584C>T (p.Gly528=)
c.1581C>T (p.Gly527=)
c.1356C>T (p.Gly452=)
n.2074C>T
n.2088C>T
2g.43875230C>ACA346670370ABCG8c.1573C>A (p.Leu525Ile)
c.1570C>A (p.Leu524Ile)
c.1585C>A (p.Leu529Ile)
c.1582C>A (p.Leu528Ile)
c.1357C>A (p.Leu453Ile)
n.2075C>A
n.2089C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875230C=CA2493963635ABCG8c.1573C= (p.Leu525=)
c.1570C= (p.Leu524=)
c.1585C= (p.Leu529=)
c.1582C= (p.Leu528=)
c.1357C= (p.Leu453=)
n.2075C=
n.2089C=
2g.43875230C>GCA346670369ABCG8c.1573C>G (p.Leu525Val)
c.1570C>G (p.Leu524Val)
c.1585C>G (p.Leu529Val)
c.1582C>G (p.Leu528Val)
c.1357C>G (p.Leu453Val)
n.2075C>G
n.2089C>G
 gnomAD v4
2g.43875230C>TCA346670368ABCG8c.1573C>T (p.Leu525Phe)
c.1570C>T (p.Leu524Phe)
c.1585C>T (p.Leu529Phe)
c.1582C>T (p.Leu528Phe)
c.1357C>T (p.Leu453Phe)
n.2075C>T
n.2089C>T
 gnomAD v4
2g.43875231T>ACA346670371ABCG8c.1574T>A (p.Leu525His)
c.1571T>A (p.Leu524His)
c.1586T>A (p.Leu529His)
c.1583T>A (p.Leu528His)
c.1358T>A (p.Leu453His)
n.2076T>A
n.2090T>A
2g.43875231T>CCA346670372ABCG8c.1574T>C (p.Leu525Pro)
c.1571T>C (p.Leu524Pro)
c.1586T>C (p.Leu529Pro)
c.1583T>C (p.Leu528Pro)
c.1358T>C (p.Leu453Pro)
n.2076T>C
n.2090T>C
2g.43875231T>GCA346670373ABCG8c.1574T>G (p.Leu525Arg)
c.1571T>G (p.Leu524Arg)
c.1586T>G (p.Leu529Arg)
c.1583T>G (p.Leu528Arg)
c.1358T>G (p.Leu453Arg)
n.2076T>G
n.2090T>G
2g.43875232C>ACA426116359ABCG8c.1575C>A (p.Leu525=)
c.1572C>A (p.Leu524=)
c.1587C>A (p.Leu529=)
c.1584C>A (p.Leu528=)
c.1359C>A (p.Leu453=)
n.2077C>A
n.2091C>A
2g.43875232C=CA2493963636ABCG8c.1575C= (p.Leu525=)
c.1572C= (p.Leu524=)
c.1587C= (p.Leu529=)
c.1584C= (p.Leu528=)
c.1359C= (p.Leu453=)
n.2077C=
n.2091C=
2g.43875232C>GCA426116360ABCG8c.1575C>G (p.Leu525=)
c.1572C>G (p.Leu524=)
c.1587C>G (p.Leu529=)
c.1584C>G (p.Leu528=)
c.1359C>G (p.Leu453=)
n.2077C>G
n.2091C>G
 dbSNP gnomAD v4
2g.43875232C>TCA426116361ABCG8c.1575C>T (p.Leu525=)
c.1572C>T (p.Leu524=)
c.1587C>T (p.Leu529=)
c.1584C>T (p.Leu528=)
c.1359C>T (p.Leu453=)
n.2077C>T
n.2091C>T
2g.43875233C>ACA346670374ABCG8c.1576C>A (p.Gln526Lys)
c.1573C>A (p.Gln525Lys)
c.1588C>A (p.Gln530Lys)
c.1585C>A (p.Gln529Lys)
c.1360C>A (p.Gln454Lys)
n.2078C>A
n.2092C>A
2g.43875233C>GCA346670375ABCG8c.1576C>G (p.Gln526Glu)
c.1573C>G (p.Gln525Glu)
c.1588C>G (p.Gln530Glu)
c.1585C>G (p.Gln529Glu)
c.1360C>G (p.Gln454Glu)
n.2078C>G
n.2092C>G
2g.43875233C>TCA346670376ABCG8c.1576C>T (p.Gln526Ter)
c.1573C>T (p.Gln525Ter)
c.1588C>T (p.Gln530Ter)
c.1585C>T (p.Gln529Ter)
c.1360C>T (p.Gln454Ter)
n.2078C>T
n.2092C>T
 gnomAD v4
2g.43875234A>CCA346670377ABCG8c.1577A>C (p.Gln526Pro)
c.1574A>C (p.Gln525Pro)
c.1589A>C (p.Gln530Pro)
c.1586A>C (p.Gln529Pro)
c.1361A>C (p.Gln454Pro)
n.2079A>C
n.2093A>C
2g.43875234A>GCA346670378ABCG8c.1577A>G (p.Gln526Arg)
c.1574A>G (p.Gln525Arg)
c.1589A>G (p.Gln530Arg)
c.1586A>G (p.Gln529Arg)
c.1361A>G (p.Gln454Arg)
n.2079A>G
n.2093A>G
2g.43875234A>TCA346670379ABCG8c.1577A>T (p.Gln526Leu)
c.1574A>T (p.Gln525Leu)
c.1589A>T (p.Gln530Leu)
c.1586A>T (p.Gln529Leu)
c.1361A>T (p.Gln454Leu)
n.2079A>T
n.2093A>T
2g.43875234_43875235delCA645535924ABCG8c.1577_1578del (p.Gln526ProfsTer?)
c.1574_1575del (p.Gln525ProfsTer?)
c.1589_1590del (p.Gln530ProfsTer?)
c.1586_1587del (p.Gln529ProfsTer?)
c.1361_1362del (p.Gln454ProfsTer?)
n.2079_2080del
n.2093_2094del
 COSMIC
2g.43875235G>ACA426116362ABCG8c.1578G>A (p.Gln526=)
c.1575G>A (p.Gln525=)
c.1590G>A (p.Gln530=)
c.1587G>A (p.Gln529=)
c.1362G>A (p.Gln454=)
n.2080G>A
n.2094G>A
 gnomAD v4
2g.43875235G>CCA346670380ABCG8c.1578G>C (p.Gln526His)
c.1575G>C (p.Gln525His)
c.1590G>C (p.Gln530His)
c.1587G>C (p.Gln529His)
c.1362G>C (p.Gln454His)
n.2080G>C
n.2094G>C
2g.43875235G>TCA346670381ABCG8c.1578G>T (p.Gln526His)
c.1575G>T (p.Gln525His)
c.1590G>T (p.Gln530His)
c.1587G>T (p.Gln529His)
c.1362G>T (p.Gln454His)
n.2080G>T
n.2094G>T
2g.43875235_43875236delinsGCCA2493963637ABCG8c.1578_1579delinsGC (p.Gln526=)
c.1575_1576delinsGC (p.Gln525=)
c.1590_1591delinsGC (p.Gln530=)
c.1587_1588delinsGC (p.Gln529=)
c.1362_1363delinsGC (p.Gln454=)
n.2080_2081delinsGC
n.2094_2095delinsGC
2g.43875236C>ACA46471003ABCG8c.1579C>A (p.Pro527Thr)
c.1576C>A (p.Pro526Thr)
c.1591C>A (p.Pro531Thr)
c.1588C>A (p.Pro530Thr)
c.1363C>A (p.Pro455Thr)
n.2081C>A
n.2095C>A
 dbSNP gnomAD v4
2g.43875236C=CA2493963638ABCG8c.1579C= (p.Pro527=)
c.1576C= (p.Pro526=)
c.1591C= (p.Pro531=)
c.1588C= (p.Pro530=)
c.1363C= (p.Pro455=)
n.2081C=
n.2095C=
2g.43875236C>GCA346670384ABCG8c.1579C>G (p.Pro527Ala)
c.1576C>G (p.Pro526Ala)
c.1591C>G (p.Pro531Ala)
c.1588C>G (p.Pro530Ala)
c.1363C>G (p.Pro455Ala)
n.2081C>G
n.2095C>G
2g.43875236C>TCA346670383ABCG8c.1579C>T (p.Pro527Ser)
c.1576C>T (p.Pro526Ser)
c.1591C>T (p.Pro531Ser)
c.1588C>T (p.Pro530Ser)
c.1363C>T (p.Pro455Ser)
n.2081C>T
n.2095C>T
2g.43875238delCA346670382ABCG8c.1581del (p.Phe528SerfsTer?)
c.1578del (p.Phe527SerfsTer?)
c.1593del (p.Phe532SerfsTer?)
c.1590del (p.Phe531SerfsTer?)
c.1365del (p.Phe456SerfsTer?)
n.2083del
n.2097del
 dbSNP
2g.43875237C>ACA346670387ABCG8c.1580C>A (p.Pro527His)
c.1577C>A (p.Pro526His)
c.1592C>A (p.Pro531His)
c.1589C>A (p.Pro530His)
c.1364C>A (p.Pro455His)
n.2082C>A
n.2096C>A
2g.43875237C=CA2493963639ABCG8c.1580C= (p.Pro527=)
c.1577C= (p.Pro526=)
c.1592C= (p.Pro531=)
c.1589C= (p.Pro530=)
c.1364C= (p.Pro455=)
n.2082C=
n.2096C=
2g.43875237C>GCA346670386ABCG8c.1580C>G (p.Pro527Arg)
c.1577C>G (p.Pro526Arg)
c.1592C>G (p.Pro531Arg)
c.1589C>G (p.Pro530Arg)
c.1364C>G (p.Pro455Arg)
n.2082C>G
n.2096C>G
2g.43875237C>TCA346670385ABCG8c.1580C>T (p.Pro527Leu)
c.1577C>T (p.Pro526Leu)
c.1592C>T (p.Pro531Leu)
c.1589C>T (p.Pro530Leu)
c.1364C>T (p.Pro455Leu)
n.2082C>T
n.2096C>T
 dbSNP gnomAD v4
2g.43875238C>ACA426116363ABCG8c.1581C>A (p.Pro527=)
c.1578C>A (p.Pro526=)
c.1593C>A (p.Pro531=)
c.1590C>A (p.Pro530=)
c.1365C>A (p.Pro455=)
n.2083C>A
n.2097C>A
2g.43875238C=CA2493963640ABCG8c.1581C= (p.Pro527=)
c.1578C= (p.Pro526=)
c.1593C= (p.Pro531=)
c.1590C= (p.Pro530=)
c.1365C= (p.Pro455=)
n.2083C=
n.2097C=
2g.43875238C>GCA426116364ABCG8c.1581C>G (p.Pro527=)
c.1578C>G (p.Pro526=)
c.1593C>G (p.Pro531=)
c.1590C>G (p.Pro530=)
c.1365C>G (p.Pro455=)
n.2083C>G
n.2097C>G
2g.43875238C>TCA426116365ABCG8c.1581C>T (p.Pro527=)
c.1578C>T (p.Pro526=)
c.1593C>T (p.Pro531=)
c.1590C>T (p.Pro530=)
c.1365C>T (p.Pro455=)
n.2083C>T
n.2097C>T
 dbSNP gnomAD v3 gnomAD v4
2g.43875248_43875259dupCA532703155ABCG8c.1591_1602dup (p.Leu534_Val535insHisPheLeuLeu)
c.1588_1599dup (p.Leu533_Val534insHisPheLeuLeu)
c.1603_1614dup (p.Leu538_Val539insHisPheLeuLeu)
c.1600_1611dup (p.Leu537_Val538insHisPheLeuLeu)
c.1375_1386dup (p.Leu462_Val463insHisPheLeuLeu)
n.2093_2104dup
n.2107_2118dup
 dbSNP gnomAD v2 gnomAD v4
2g.43875248_43875259delCA2658831265ABCG8c.1591_1602del (p.His531_Leu534del)
c.1588_1599del (p.His530_Leu533del)
c.1603_1614del (p.His535_Leu538del)
c.1600_1611del (p.His534_Leu537del)
c.1375_1386del (p.His459_Leu462del)
n.2093_2104del
n.2107_2118del
 gnomAD v4
2g.43875239T>ACA346670388ABCG8c.1582T>A (p.Phe528Ile)
c.1579T>A (p.Phe527Ile)
c.1594T>A (p.Phe532Ile)
c.1591T>A (p.Phe531Ile)
c.1366T>A (p.Phe456Ile)
n.2084T>A
n.2098T>A
2g.43875239T>CCA346670389ABCG8c.1582T>C (p.Phe528Leu)
c.1579T>C (p.Phe527Leu)
c.1594T>C (p.Phe532Leu)
c.1591T>C (p.Phe531Leu)
c.1366T>C (p.Phe456Leu)
n.2084T>C
n.2098T>C
2g.43875239T>GCA346670390ABCG8c.1582T>G (p.Phe528Val)
c.1579T>G (p.Phe527Val)
c.1594T>G (p.Phe532Val)
c.1591T>G (p.Phe531Val)
c.1366T>G (p.Phe456Val)
n.2084T>G
n.2098T>G
2g.43875240T>ACA346670391ABCG8c.1583T>A (p.Phe528Tyr)
c.1580T>A (p.Phe527Tyr)
c.1595T>A (p.Phe532Tyr)
c.1592T>A (p.Phe531Tyr)
c.1367T>A (p.Phe456Tyr)
n.2085T>A
n.2099T>A
2g.43875240T>CCA346670392ABCG8c.1583T>C (p.Phe528Ser)
c.1580T>C (p.Phe527Ser)
c.1595T>C (p.Phe532Ser)
c.1592T>C (p.Phe531Ser)
c.1367T>C (p.Phe456Ser)
n.2085T>C
n.2099T>C
2g.43875240T>GCA346670393ABCG8c.1583T>G (p.Phe528Cys)
c.1580T>G (p.Phe527Cys)
c.1595T>G (p.Phe532Cys)
c.1592T>G (p.Phe531Cys)
c.1367T>G (p.Phe456Cys)
n.2085T>G
n.2099T>G
2g.43875241C>ACA346670394ABCG8c.1584C>A (p.Phe528Leu)
c.1581C>A (p.Phe527Leu)
c.1596C>A (p.Phe532Leu)
c.1593C>A (p.Phe531Leu)
c.1368C>A (p.Phe456Leu)
n.2086C>A
n.2100C>A
2g.43875241C=CA2493963641ABCG8c.1584C= (p.Phe528=)
c.1581C= (p.Phe527=)
c.1596C= (p.Phe532=)
c.1593C= (p.Phe531=)
c.1368C= (p.Phe456=)
n.2086C=
n.2100C=
2g.43875241C>GCA346670395ABCG8c.1584C>G (p.Phe528Leu)
c.1581C>G (p.Phe527Leu)
c.1596C>G (p.Phe532Leu)
c.1593C>G (p.Phe531Leu)
c.1368C>G (p.Phe456Leu)
n.2086C>G
n.2100C>G
2g.43875241C>TCA426116367ABCG8c.1584C>T (p.Phe528=)
c.1581C>T (p.Phe527=)
c.1596C>T (p.Phe532=)
c.1593C>T (p.Phe531=)
c.1368C>T (p.Phe456=)
n.2086C>T
n.2100C>T
 dbSNP gnomAD v3 gnomAD v4
2g.43875242C>ACA346670396ABCG8c.1585C>A (p.Leu529Met)
c.1582C>A (p.Leu528Met)
c.1597C>A (p.Leu533Met)
c.1594C>A (p.Leu532Met)
c.1369C>A (p.Leu457Met)
n.2087C>A
n.2101C>A
2g.43875242C>GCA346670397ABCG8c.1585C>G (p.Leu529Val)
c.1582C>G (p.Leu528Val)
c.1597C>G (p.Leu533Val)
c.1594C>G (p.Leu532Val)
c.1369C>G (p.Leu457Val)
n.2087C>G
n.2101C>G
 dbSNP
2g.43875242C>TCA426116368ABCG8c.1585C>T (p.Leu529=)
c.1582C>T (p.Leu528=)
c.1597C>T (p.Leu533=)
c.1594C>T (p.Leu532=)
c.1369C>T (p.Leu457=)
n.2087C>T
n.2101C>T
2g.43875243T>ACA346670398ABCG8c.1586T>A (p.Leu529Gln)
c.1583T>A (p.Leu528Gln)
c.1598T>A (p.Leu533Gln)
c.1595T>A (p.Leu532Gln)
c.1370T>A (p.Leu457Gln)
n.2088T>A
n.2102T>A
2g.43875243T>CCA346670399ABCG8c.1586T>C (p.Leu529Pro)
c.1583T>C (p.Leu528Pro)
c.1598T>C (p.Leu533Pro)
c.1595T>C (p.Leu532Pro)
c.1370T>C (p.Leu457Pro)
n.2088T>C
n.2102T>C
2g.43875243T>GCA346670400ABCG8c.1586T>G (p.Leu529Arg)
c.1583T>G (p.Leu528Arg)
c.1598T>G (p.Leu533Arg)
c.1595T>G (p.Leu532Arg)
c.1370T>G (p.Leu457Arg)
n.2088T>G
n.2102T>G
2g.43875244G>ACA426116369ABCG8c.1587G>A (p.Leu529=)
c.1584G>A (p.Leu528=)
c.1599G>A (p.Leu533=)
c.1596G>A (p.Leu532=)
c.1371G>A (p.Leu457=)
n.2089G>A
n.2103G>A
 gnomAD v4
2g.43875244G>CCA426116371ABCG8c.1587G>C (p.Leu529=)
c.1584G>C (p.Leu528=)
c.1599G>C (p.Leu533=)
c.1596G>C (p.Leu532=)
c.1371G>C (p.Leu457=)
n.2089G>C
n.2103G>C
2g.43875244G>TCA426116370ABCG8c.1587G>T (p.Leu529=)
c.1584G>T (p.Leu528=)
c.1599G>T (p.Leu533=)
c.1596G>T (p.Leu532=)
c.1371G>T (p.Leu457=)
n.2089G>T
n.2103G>T
2g.43875245C>ACA346670402ABCG8c.1588C>A (p.Leu530Met)
c.1585C>A (p.Leu529Met)
c.1600C>A (p.Leu534Met)
c.1597C>A (p.Leu533Met)
c.1372C>A (p.Leu458Met)
n.2090C>A
n.2104C>A
2g.43875245C>GCA346670401ABCG8c.1588C>G (p.Leu530Val)
c.1585C>G (p.Leu529Val)
c.1600C>G (p.Leu534Val)
c.1597C>G (p.Leu533Val)
c.1372C>G (p.Leu458Val)
n.2090C>G
n.2104C>G
2g.43875245C>TCA426116372ABCG8c.1588C>T (p.Leu530=)
c.1585C>T (p.Leu529=)
c.1600C>T (p.Leu534=)
c.1597C>T (p.Leu533=)
c.1372C>T (p.Leu458=)
n.2090C>T
n.2104C>T
2g.43875246T>ACA346670403ABCG8c.1589T>A (p.Leu530Gln)
c.1586T>A (p.Leu529Gln)
c.1601T>A (p.Leu534Gln)
c.1598T>A (p.Leu533Gln)
c.1373T>A (p.Leu458Gln)
n.2091T>A
n.2105T>A
2g.43875246T>CCA346670404ABCG8c.1589T>C (p.Leu530Pro)
c.1586T>C (p.Leu529Pro)
c.1601T>C (p.Leu534Pro)
c.1598T>C (p.Leu533Pro)
c.1373T>C (p.Leu458Pro)
n.2091T>C
n.2105T>C
2g.43875246T>GCA346670405ABCG8c.1589T>G (p.Leu530Arg)
c.1586T>G (p.Leu529Arg)
c.1601T>G (p.Leu534Arg)
c.1598T>G (p.Leu533Arg)
c.1373T>G (p.Leu458Arg)
n.2091T>G
n.2105T>G
2g.43875247G>ACA426116373ABCG8c.1590G>A (p.Leu530=)
c.1587G>A (p.Leu529=)
c.1602G>A (p.Leu534=)
c.1599G>A (p.Leu533=)
c.1374G>A (p.Leu458=)
n.2092G>A
n.2106G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43875247G>CCA426116375ABCG8c.1590G>C (p.Leu530=)
c.1587G>C (p.Leu529=)
c.1602G>C (p.Leu534=)
c.1599G>C (p.Leu533=)
c.1374G>C (p.Leu458=)
n.2092G>C
n.2106G>C
2g.43875247G=CA2493963642ABCG8c.1590G= (p.Leu530=)
c.1587G= (p.Leu529=)
c.1602G= (p.Leu534=)
c.1599G= (p.Leu533=)
c.1374G= (p.Leu458=)
n.2092G=
n.2106G=
2g.43875247G>TCA426116376ABCG8c.1590G>T (p.Leu530=)
c.1587G>T (p.Leu529=)
c.1602G>T (p.Leu534=)
c.1599G>T (p.Leu533=)
c.1374G>T (p.Leu458=)
n.2092G>T
n.2106G>T
2g.43875248C>ACA346670406ABCG8c.1591C>A (p.His531Asn)
c.1588C>A (p.His530Asn)
c.1603C>A (p.His535Asn)
c.1600C>A (p.His534Asn)
c.1375C>A (p.His459Asn)
n.2093C>A
n.2107C>A
2g.43875248C>GCA346670407ABCG8c.1591C>G (p.His531Asp)
c.1588C>G (p.His530Asp)
c.1603C>G (p.His535Asp)
c.1600C>G (p.His534Asp)
c.1375C>G (p.His459Asp)
n.2093C>G
n.2107C>G
2g.43875248C>TCA346670408ABCG8c.1591C>T (p.His531Tyr)
c.1588C>T (p.His530Tyr)
c.1603C>T (p.His535Tyr)
c.1600C>T (p.His534Tyr)
c.1375C>T (p.His459Tyr)
n.2093C>T
n.2107C>T
 gnomAD v4
2g.43875249A>CCA346670411ABCG8c.1592A>C (p.His531Pro)
c.1589A>C (p.His530Pro)
c.1604A>C (p.His535Pro)
c.1601A>C (p.His534Pro)
c.1376A>C (p.His459Pro)
n.2094A>C
n.2108A>C
2g.43875249A>GCA346670409ABCG8c.1592A>G (p.His531Arg)
c.1589A>G (p.His530Arg)
c.1604A>G (p.His535Arg)
c.1601A>G (p.His534Arg)
c.1376A>G (p.His459Arg)
n.2094A>G
n.2108A>G
 gnomAD v4
2g.43875249A>TCA346670410ABCG8c.1592A>T (p.His531Leu)
c.1589A>T (p.His530Leu)
c.1604A>T (p.His535Leu)
c.1601A>T (p.His534Leu)
c.1376A>T (p.His459Leu)
n.2094A>T
n.2108A>T
 gnomAD v4
2g.43875250C>ACA46471011ABCG8c.1593C>A (p.His531Gln)
c.1590C>A (p.His530Gln)
c.1605C>A (p.His535Gln)
c.1602C>A (p.His534Gln)
c.1377C>A (p.His459Gln)
n.2095C>A
n.2109C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875250C=CA2493963643ABCG8c.1593C= (p.His531=)
c.1590C= (p.His530=)
c.1605C= (p.His535=)
c.1602C= (p.His534=)
c.1377C= (p.His459=)
n.2095C=
n.2109C=
2g.43875250C>GCA346670412ABCG8c.1593C>G (p.His531Gln)
c.1590C>G (p.His530Gln)
c.1605C>G (p.His535Gln)
c.1602C>G (p.His534Gln)
c.1377C>G (p.His459Gln)
n.2095C>G
n.2109C>G
2g.43875250C>TCA426116377ABCG8c.1593C>T (p.His531=)
c.1590C>T (p.His530=)
c.1605C>T (p.His535=)
c.1602C>T (p.His534=)
c.1377C>T (p.His459=)
n.2095C>T
n.2109C>T
2g.43875251T>ACA46471012ABCG8c.1594T>A (p.Phe532Ile)
c.1591T>A (p.Phe531Ile)
c.1606T>A (p.Phe536Ile)
c.1603T>A (p.Phe535Ile)
c.1378T>A (p.Phe460Ile)
n.2096T>A
n.2110T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875251T>CCA346670413ABCG8c.1594T>C (p.Phe532Leu)
c.1591T>C (p.Phe531Leu)
c.1606T>C (p.Phe536Leu)
c.1603T>C (p.Phe535Leu)
c.1378T>C (p.Phe460Leu)
n.2096T>C
n.2110T>C
2g.43875251T>GCA346670414ABCG8c.1594T>G (p.Phe532Val)
c.1591T>G (p.Phe531Val)
c.1606T>G (p.Phe536Val)
c.1603T>G (p.Phe535Val)
c.1378T>G (p.Phe460Val)
n.2096T>G
n.2110T>G
2g.43875251T=CA2493963644ABCG8c.1594T= (p.Phe532=)
c.1591T= (p.Phe531=)
c.1606T= (p.Phe536=)
c.1603T= (p.Phe535=)
c.1378T= (p.Phe460=)
n.2096T=
n.2110T=
2g.43875252T>ACA346670415ABCG8c.1595T>A (p.Phe532Tyr)
c.1592T>A (p.Phe531Tyr)
c.1607T>A (p.Phe536Tyr)
c.1604T>A (p.Phe535Tyr)
c.1379T>A (p.Phe460Tyr)
n.2097T>A
n.2111T>A
2g.43875252T>CCA346670416ABCG8c.1595T>C (p.Phe532Ser)
c.1592T>C (p.Phe531Ser)
c.1607T>C (p.Phe536Ser)
c.1604T>C (p.Phe535Ser)
c.1379T>C (p.Phe460Ser)
n.2097T>C
n.2111T>C
2g.43875252T>GCA1637550ABCG8c.1595T>G (p.Phe532Cys)
c.1592T>G (p.Phe531Cys)
c.1607T>G (p.Phe536Cys)
c.1604T>G (p.Phe535Cys)
c.1379T>G (p.Phe460Cys)
n.2097T>G
n.2111T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875252T=CA2493963645ABCG8c.1595T= (p.Phe532=)
c.1592T= (p.Phe531=)
c.1607T= (p.Phe536=)
c.1604T= (p.Phe535=)
c.1379T= (p.Phe460=)
n.2097T=
n.2111T=
2g.43875253C>ACA346670417ABCG8c.1596C>A (p.Phe532Leu)
c.1593C>A (p.Phe531Leu)
c.1608C>A (p.Phe536Leu)
c.1605C>A (p.Phe535Leu)
c.1380C>A (p.Phe460Leu)
n.2098C>A
n.2112C>A
2g.43875253C=CA2493963646ABCG8c.1596C= (p.Phe532=)
c.1593C= (p.Phe531=)
c.1608C= (p.Phe536=)
c.1605C= (p.Phe535=)
c.1380C= (p.Phe460=)
n.2098C=
n.2112C=
2g.43875253C>GCA346670418ABCG8c.1596C>G (p.Phe532Leu)
c.1593C>G (p.Phe531Leu)
c.1608C>G (p.Phe536Leu)
c.1605C>G (p.Phe535Leu)
c.1380C>G (p.Phe460Leu)
n.2098C>G
n.2112C>G
2g.43875253C>TCA1637551ABCG8c.1596C>T (p.Phe532=)
c.1593C>T (p.Phe531=)
c.1608C>T (p.Phe536=)
c.1605C>T (p.Phe535=)
c.1380C>T (p.Phe460=)
n.2098C>T
n.2112C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.43875254C>ACA346670419ABCG8c.1597C>A (p.Leu533Met)
c.1594C>A (p.Leu532Met)
c.1609C>A (p.Leu537Met)
c.1606C>A (p.Leu536Met)
c.1381C>A (p.Leu461Met)
n.2099C>A
n.2113C>A
2g.43875254C>GCA346670420ABCG8c.1597C>G (p.Leu533Val)
c.1594C>G (p.Leu532Val)
c.1609C>G (p.Leu537Val)
c.1606C>G (p.Leu536Val)
c.1381C>G (p.Leu461Val)
n.2099C>G
n.2113C>G
2g.43875254C>TCA426116378ABCG8c.1597C>T (p.Leu533=)
c.1594C>T (p.Leu532=)
c.1609C>T (p.Leu537=)
c.1606C>T (p.Leu536=)
c.1381C>T (p.Leu461=)
n.2099C>T
n.2113C>T
 gnomAD v4
2g.43875255T>ACA346670421ABCG8c.1598T>A (p.Leu533Gln)
c.1595T>A (p.Leu532Gln)
c.1610T>A (p.Leu537Gln)
c.1607T>A (p.Leu536Gln)
c.1382T>A (p.Leu461Gln)
n.2100T>A
n.2114T>A
2g.43875255T>CCA346670422ABCG8c.1598T>C (p.Leu533Pro)
c.1595T>C (p.Leu532Pro)
c.1610T>C (p.Leu537Pro)
c.1607T>C (p.Leu536Pro)
c.1382T>C (p.Leu461Pro)
n.2100T>C
n.2114T>C
 ClinVar
2g.43875255T>GCA346670423ABCG8c.1598T>G (p.Leu533Arg)
c.1595T>G (p.Leu532Arg)
c.1610T>G (p.Leu537Arg)
c.1607T>G (p.Leu536Arg)
c.1382T>G (p.Leu461Arg)
n.2100T>G
n.2114T>G
2g.43875256G>ACA426116379ABCG8c.1599G>A (p.Leu533=)
c.1596G>A (p.Leu532=)
c.1611G>A (p.Leu537=)
c.1608G>A (p.Leu536=)
c.1383G>A (p.Leu461=)
n.2101G>A
n.2115G>A
 dbSNP gnomAD v3 gnomAD v4
2g.43875256G>CCA426116380ABCG8c.1599G>C (p.Leu533=)
c.1596G>C (p.Leu532=)
c.1611G>C (p.Leu537=)
c.1608G>C (p.Leu536=)
c.1383G>C (p.Leu461=)
n.2101G>C
n.2115G>C
2g.43875256G=CA2493963647ABCG8c.1599G= (p.Leu533=)
c.1596G= (p.Leu532=)
c.1611G= (p.Leu537=)
c.1608G= (p.Leu536=)
c.1383G= (p.Leu461=)
n.2101G=
n.2115G=
2g.43875256G>TCA46471055ABCG8c.1599G>T (p.Leu533=)
c.1596G>T (p.Leu532=)
c.1611G>T (p.Leu537=)
c.1608G>T (p.Leu536=)
c.1383G>T (p.Leu461=)
n.2101G>T
n.2115G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875257C>ACA346670424ABCG8c.1600C>A (p.Leu534Met)
c.1597C>A (p.Leu533Met)
c.1612C>A (p.Leu538Met)
c.1609C>A (p.Leu537Met)
c.1384C>A (p.Leu462Met)
n.2102C>A
n.2116C>A
2g.43875257C>GCA346670425ABCG8c.1600C>G (p.Leu534Val)
c.1597C>G (p.Leu533Val)
c.1612C>G (p.Leu538Val)
c.1609C>G (p.Leu537Val)
c.1384C>G (p.Leu462Val)
n.2102C>G
n.2116C>G
2g.43875257C>TCA426116382ABCG8c.1600C>T (p.Leu534=)
c.1597C>T (p.Leu533=)
c.1612C>T (p.Leu538=)
c.1609C>T (p.Leu537=)
c.1384C>T (p.Leu462=)
n.2102C>T
n.2116C>T
 gnomAD v4
2g.43875258T>ACA346670426ABCG8c.1601T>A (p.Leu534Gln)
c.1598T>A (p.Leu533Gln)
c.1613T>A (p.Leu538Gln)
c.1610T>A (p.Leu537Gln)
c.1385T>A (p.Leu462Gln)
n.2103T>A
n.2117T>A
2g.43875258T>CCA346670427ABCG8c.1601T>C (p.Leu534Pro)
c.1598T>C (p.Leu533Pro)
c.1613T>C (p.Leu538Pro)
c.1610T>C (p.Leu537Pro)
c.1385T>C (p.Leu462Pro)
n.2103T>C
n.2117T>C
2g.43875258T>GCA1637552ABCG8c.1601T>G (p.Leu534Arg)
c.1598T>G (p.Leu533Arg)
c.1613T>G (p.Leu538Arg)
c.1610T>G (p.Leu537Arg)
c.1385T>G (p.Leu462Arg)
n.2103T>G
n.2117T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875258T=CA2493963648ABCG8c.1601T= (p.Leu534=)
c.1598T= (p.Leu533=)
c.1613T= (p.Leu538=)
c.1610T= (p.Leu537=)
c.1385T= (p.Leu462=)
n.2103T=
n.2117T=
2g.43875259G>ACA1637553ABCG8c.1602G>A (p.Leu534=)
c.1599G>A (p.Leu533=)
c.1614G>A (p.Leu538=)
c.1611G>A (p.Leu537=)
c.1386G>A (p.Leu462=)
n.2104G>A
n.2118G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875259G>CCA426116383ABCG8c.1602G>C (p.Leu534=)
c.1599G>C (p.Leu533=)
c.1614G>C (p.Leu538=)
c.1611G>C (p.Leu537=)
c.1386G>C (p.Leu462=)
n.2104G>C
n.2118G>C
2g.43875259G=CA2493963649ABCG8c.1602G= (p.Leu534=)
c.1599G= (p.Leu533=)
c.1614G= (p.Leu538=)
c.1611G= (p.Leu537=)
c.1386G= (p.Leu462=)
n.2104G=
n.2118G=
2g.43875259G>TCA426116384ABCG8c.1602G>T (p.Leu534=)
c.1599G>T (p.Leu533=)
c.1614G>T (p.Leu538=)
c.1611G>T (p.Leu537=)
c.1386G>T (p.Leu462=)
n.2104G>T
n.2118G>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875260G>ACA346670430ABCG8c.1603G>A (p.Val535Met)
c.1600G>A (p.Val534Met)
c.1615G>A (p.Val539Met)
c.1612G>A (p.Val538Met)
c.1387G>A (p.Val463Met)
n.2105G>A
n.2119G>A
 dbSNP
2g.43875260G>CCA346670429ABCG8c.1603G>C (p.Val535Leu)
c.1600G>C (p.Val534Leu)
c.1615G>C (p.Val539Leu)
c.1612G>C (p.Val538Leu)
c.1387G>C (p.Val463Leu)
n.2105G>C
n.2119G>C
 gnomAD v4
2g.43875260G=CA2493963650ABCG8c.1603G= (p.Val535=)
c.1600G= (p.Val534=)
c.1615G= (p.Val539=)
c.1612G= (p.Val538=)
c.1387G= (p.Val463=)
n.2105G=
n.2119G=
2g.43875260G>TCA346670428ABCG8c.1603G>T (p.Val535Leu)
c.1600G>T (p.Val534Leu)
c.1615G>T (p.Val539Leu)
c.1612G>T (p.Val538Leu)
c.1387G>T (p.Val463Leu)
n.2105G>T
n.2119G>T
 dbSNP gnomAD v3 gnomAD v4
2g.43875261T>ACA1637554ABCG8c.1604T>A (p.Val535Glu)
c.1601T>A (p.Val534Glu)
c.1616T>A (p.Val539Glu)
c.1613T>A (p.Val538Glu)
c.1388T>A (p.Val463Glu)
n.2106T>A
n.2120T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875261T>CCA1637555ABCG8c.1604T>C (p.Val535Ala)
c.1601T>C (p.Val534Ala)
c.1616T>C (p.Val539Ala)
c.1613T>C (p.Val538Ala)
c.1388T>C (p.Val463Ala)
n.2106T>C
n.2120T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875261T>GCA346670431ABCG8c.1604T>G (p.Val535Gly)
c.1601T>G (p.Val534Gly)
c.1616T>G (p.Val539Gly)
c.1613T>G (p.Val538Gly)
c.1388T>G (p.Val463Gly)
n.2106T>G
n.2120T>G
2g.43875261T=CA2493963651ABCG8c.1604T= (p.Val535=)
c.1601T= (p.Val534=)
c.1616T= (p.Val539=)
c.1613T= (p.Val538=)
c.1388T= (p.Val463=)
n.2106T=
n.2120T=
2g.43875262G>ACA426116385ABCG8c.1605G>A (p.Val535=)
c.1602G>A (p.Val534=)
c.1617G>A (p.Val539=)
c.1614G>A (p.Val538=)
c.1389G>A (p.Val463=)
n.2107G>A
n.2121G>A
 gnomAD v4
2g.43875262G>CCA426116386ABCG8c.1605G>C (p.Val535=)
c.1602G>C (p.Val534=)
c.1617G>C (p.Val539=)
c.1614G>C (p.Val538=)
c.1389G>C (p.Val463=)
n.2107G>C
n.2121G>C
2g.43875262G>TCA426116387ABCG8c.1605G>T (p.Val535=)
c.1602G>T (p.Val534=)
c.1617G>T (p.Val539=)
c.1614G>T (p.Val538=)
c.1389G>T (p.Val463=)
n.2107G>T
n.2121G>T
2g.43875263T>ACA346670432ABCG8c.1606T>A (p.Trp536Arg)
c.1603T>A (p.Trp535Arg)
c.1618T>A (p.Trp540Arg)
c.1615T>A (p.Trp539Arg)
c.1390T>A (p.Trp464Arg)
n.2108T>A
n.2122T>A
2g.43875263T>CCA346670433ABCG8c.1606T>C (p.Trp536Arg)
c.1603T>C (p.Trp535Arg)
c.1618T>C (p.Trp540Arg)
c.1615T>C (p.Trp539Arg)
c.1390T>C (p.Trp464Arg)
n.2108T>C
n.2122T>C
2g.43875263T>GCA346670434ABCG8c.1606T>G (p.Trp536Gly)
c.1603T>G (p.Trp535Gly)
c.1618T>G (p.Trp540Gly)
c.1615T>G (p.Trp539Gly)
c.1390T>G (p.Trp464Gly)
n.2108T>G
n.2122T>G
2g.43875264G>ACA346670435ABCG8c.1607G>A (p.Trp536Ter)
c.1604G>A (p.Trp535Ter)
c.1619G>A (p.Trp540Ter)
c.1616G>A (p.Trp539Ter)
c.1391G>A (p.Trp464Ter)
n.2109G>A
n.2123G>A
 gnomAD v4
2g.43875264G>CCA346670436ABCG8c.1607G>C (p.Trp536Ser)
c.1604G>C (p.Trp535Ser)
c.1619G>C (p.Trp540Ser)
c.1616G>C (p.Trp539Ser)
c.1391G>C (p.Trp464Ser)
n.2109G>C
n.2123G>C
2g.43875264G>TCA346670437ABCG8c.1607G>T (p.Trp536Leu)
c.1604G>T (p.Trp535Leu)
c.1619G>T (p.Trp540Leu)
c.1616G>T (p.Trp539Leu)
c.1391G>T (p.Trp464Leu)
n.2109G>T
n.2123G>T
2g.43875265G>ACA46471077ABCG8c.1608G>A (p.Trp536Ter)
c.1605G>A (p.Trp535Ter)
c.1620G>A (p.Trp540Ter)
c.1617G>A (p.Trp539Ter)
c.1392G>A (p.Trp464Ter)
n.2110G>A
n.2124G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875265G>CCA346670438ABCG8c.1608G>C (p.Trp536Cys)
c.1605G>C (p.Trp535Cys)
c.1620G>C (p.Trp540Cys)
c.1617G>C (p.Trp539Cys)
c.1392G>C (p.Trp464Cys)
n.2110G>C
n.2124G>C
 dbSNP
2g.43875265G=CA2493963652ABCG8c.1608G= (p.Trp536=)
c.1605G= (p.Trp535=)
c.1620G= (p.Trp540=)
c.1617G= (p.Trp539=)
c.1392G= (p.Trp464=)
n.2110G=
n.2124G=
2g.43875265G>TCA346670439ABCG8c.1608G>T (p.Trp536Cys)
c.1605G>T (p.Trp535Cys)
c.1620G>T (p.Trp540Cys)
c.1617G>T (p.Trp539Cys)
c.1392G>T (p.Trp464Cys)
n.2110G>T
n.2124G>T
 gnomAD v4
2g.43875266C>ACA346670440ABCG8c.1609C>A (p.Leu537Met)
c.1606C>A (p.Leu536Met)
c.1621C>A (p.Leu541Met)
c.1618C>A (p.Leu540Met)
c.1393C>A (p.Leu465Met)
n.2111C>A
n.2125C>A
2g.43875266C>GCA346670441ABCG8c.1609C>G (p.Leu537Val)
c.1606C>G (p.Leu536Val)
c.1621C>G (p.Leu541Val)
c.1618C>G (p.Leu540Val)
c.1393C>G (p.Leu465Val)
n.2111C>G
n.2125C>G
2g.43875266C>TCA426116388ABCG8c.1609C>T (p.Leu537=)
c.1606C>T (p.Leu536=)
c.1621C>T (p.Leu541=)
c.1618C>T (p.Leu540=)
c.1393C>T (p.Leu465=)
n.2111C>T
n.2125C>T
2g.43875267T>ACA346670443ABCG8c.1610T>A (p.Leu537Gln)
c.1607T>A (p.Leu536Gln)
c.1622T>A (p.Leu541Gln)
c.1619T>A (p.Leu540Gln)
c.1394T>A (p.Leu465Gln)
n.2112T>A
n.2126T>A
2g.43875267T>CCA346670444ABCG8c.1610T>C (p.Leu537Pro)
c.1607T>C (p.Leu536Pro)
c.1622T>C (p.Leu541Pro)
c.1619T>C (p.Leu540Pro)
c.1394T>C (p.Leu465Pro)
n.2112T>C
n.2126T>C
2g.43875267T>GCA346670442ABCG8c.1610T>G (p.Leu537Arg)
c.1607T>G (p.Leu536Arg)
c.1622T>G (p.Leu541Arg)
c.1619T>G (p.Leu540Arg)
c.1394T>G (p.Leu465Arg)
n.2112T>G
n.2126T>G
2g.43875268G>ACA10606755ABCG8c.1611G>A (p.Leu537=)
c.1608G>A (p.Leu536=)
c.1623G>A (p.Leu541=)
c.1620G>A (p.Leu540=)
c.1395G>A (p.Leu465=)
n.2113G>A
n.2127G>A
 ClinVar dbSNP
2g.43875268G>CCA426116389ABCG8c.1611G>C (p.Leu537=)
c.1608G>C (p.Leu536=)
c.1623G>C (p.Leu541=)
c.1620G>C (p.Leu540=)
c.1395G>C (p.Leu465=)
n.2113G>C
n.2127G>C
2g.43875268G=CA2493963653ABCG8c.1611G= (p.Leu537=)
c.1608G= (p.Leu536=)
c.1623G= (p.Leu541=)
c.1620G= (p.Leu540=)
c.1395G= (p.Leu465=)
n.2113G=
n.2127G=
2g.43875268G>TCA1637556ABCG8c.1611G>T (p.Leu537=)
c.1608G>T (p.Leu536=)
c.1623G>T (p.Leu541=)
c.1620G>T (p.Leu540=)
c.1395G>T (p.Leu465=)
n.2113G>T
n.2127G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875269G>ACA1637557ABCG8c.1612G>A (p.Val538Met)
c.1609G>A (p.Val537Met)
c.1624G>A (p.Val542Met)
c.1621G>A (p.Val541Met)
c.1396G>A (p.Val466Met)
n.2114G>A
n.2128G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875269G>CCA346670445ABCG8c.1612G>C (p.Val538Leu)
c.1609G>C (p.Val537Leu)
c.1624G>C (p.Val542Leu)
c.1621G>C (p.Val541Leu)
c.1396G>C (p.Val466Leu)
n.2114G>C
n.2128G>C
2g.43875269G=CA2493963654ABCG8c.1612G= (p.Val538=)
c.1609G= (p.Val537=)
c.1624G= (p.Val542=)
c.1621G= (p.Val541=)
c.1396G= (p.Val466=)
n.2114G=
n.2128G=
2g.43875269G>TCA346670446ABCG8c.1612G>T (p.Val538Leu)
c.1609G>T (p.Val537Leu)
c.1624G>T (p.Val542Leu)
c.1621G>T (p.Val541Leu)
c.1396G>T (p.Val466Leu)
n.2114G>T
n.2128G>T
2g.43875270T>ACA346670447ABCG8c.1613T>A (p.Val538Glu)
c.1610T>A (p.Val537Glu)
c.1625T>A (p.Val542Glu)
c.1622T>A (p.Val541Glu)
c.1397T>A (p.Val466Glu)
n.2115T>A
n.2129T>A
2g.43875270T>CCA346670448ABCG8c.1613T>C (p.Val538Ala)
c.1610T>C (p.Val537Ala)
c.1625T>C (p.Val542Ala)
c.1622T>C (p.Val541Ala)
c.1397T>C (p.Val466Ala)
n.2115T>C
n.2129T>C
 gnomAD v4
2g.43875270T>GCA1637558ABCG8c.1613T>G (p.Val538Gly)
c.1610T>G (p.Val537Gly)
c.1625T>G (p.Val542Gly)
c.1622T>G (p.Val541Gly)
c.1397T>G (p.Val466Gly)
n.2115T>G
n.2129T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875270T=CA2493963655ABCG8c.1613T= (p.Val538=)
c.1610T= (p.Val537=)
c.1625T= (p.Val542=)
c.1622T= (p.Val541=)
c.1397T= (p.Val466=)
n.2115T=
n.2129T=
2g.43875271G>ACA426116390ABCG8c.1614G>A (p.Val538=)
c.1611G>A (p.Val537=)
c.1626G>A (p.Val542=)
c.1623G>A (p.Val541=)
c.1398G>A (p.Val466=)
n.2116G>A
n.2130G>A
2g.43875271G>CCA426116391ABCG8c.1614G>C (p.Val538=)
c.1611G>C (p.Val537=)
c.1626G>C (p.Val542=)
c.1623G>C (p.Val541=)
c.1398G>C (p.Val466=)
n.2116G>C
n.2130G>C
2g.43875271G>TCA426116392ABCG8c.1614G>T (p.Val538=)
c.1611G>T (p.Val537=)
c.1626G>T (p.Val542=)
c.1623G>T (p.Val541=)
c.1398G>T (p.Val466=)
n.2116G>T
n.2130G>T
2g.43875272dupCA1139770887ABCG8c.1615dup (p.Val539GlyfsTer?)
c.1612dup (p.Val538GlyfsTer?)
c.1627dup (p.Val543GlyfsTer?)
c.1624dup (p.Val542GlyfsTer?)
c.1399dup (p.Val467GlyfsTer?)
n.2117dup
n.2131dup
2g.43875272G>ACA346670449ABCG8c.1615G>A (p.Val539Ile)
c.1612G>A (p.Val538Ile)
c.1627G>A (p.Val543Ile)
c.1624G>A (p.Val542Ile)
c.1399G>A (p.Val467Ile)
n.2117G>A
n.2131G>A
2g.43875272G>CCA346670450ABCG8c.1615G>C (p.Val539Leu)
c.1612G>C (p.Val538Leu)
c.1627G>C (p.Val543Leu)
c.1624G>C (p.Val542Leu)
c.1399G>C (p.Val467Leu)
n.2117G>C
n.2131G>C
2g.43875272G>TCA346670451ABCG8c.1615G>T (p.Val539Phe)
c.1612G>T (p.Val538Phe)
c.1627G>T (p.Val543Phe)
c.1624G>T (p.Val542Phe)
c.1399G>T (p.Val467Phe)
n.2117G>T
n.2131G>T
2g.43875273T>ACA346670452ABCG8c.1616T>A (p.Val539Asp)
c.1613T>A (p.Val538Asp)
c.1628T>A (p.Val543Asp)
c.1625T>A (p.Val542Asp)
c.1400T>A (p.Val467Asp)
n.2118T>A
n.2132T>A
2g.43875273T>CCA346670453ABCG8c.1616T>C (p.Val539Ala)
c.1613T>C (p.Val538Ala)
c.1628T>C (p.Val543Ala)
c.1625T>C (p.Val542Ala)
c.1400T>C (p.Val467Ala)
n.2118T>C
n.2132T>C
2g.43875273T>GCA1637559ABCG8c.1616T>G (p.Val539Gly)
c.1613T>G (p.Val538Gly)
c.1628T>G (p.Val543Gly)
c.1625T>G (p.Val542Gly)
c.1400T>G (p.Val467Gly)
n.2118T>G
n.2132T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875273T=CA2493963656ABCG8c.1616T= (p.Val539=)
c.1613T= (p.Val538=)
c.1628T= (p.Val543=)
c.1625T= (p.Val542=)
c.1400T= (p.Val467=)
n.2118T=
n.2132T=
2g.43875274C>ACA1637560ABCG8c.1617C>A (p.Val539=)
c.1614C>A (p.Val538=)
c.1629C>A (p.Val543=)
c.1626C>A (p.Val542=)
c.1401C>A (p.Val467=)
n.2119C>A
n.2133C>A
 dbSNP ExAC
2g.43875274C=CA2493963657ABCG8c.1617C= (p.Val539=)
c.1614C= (p.Val538=)
c.1629C= (p.Val543=)
c.1626C= (p.Val542=)
c.1401C= (p.Val467=)
n.2119C=
n.2133C=
2g.43875274C>GCA1637561ABCG8c.1617C>G (p.Val539=)
c.1614C>G (p.Val538=)
c.1629C>G (p.Val543=)
c.1626C>G (p.Val542=)
c.1401C>G (p.Val467=)
n.2119C>G
n.2133C>G
 dbSNP ExAC
2g.43875274C>TCA426116394ABCG8c.1617C>T (p.Val539=)
c.1614C>T (p.Val538=)
c.1629C>T (p.Val543=)
c.1626C>T (p.Val542=)
c.1401C>T (p.Val467=)
n.2119C>T
n.2133C>T
 COSMIC
2g.43875275T>ACA1637563ABCG8c.1618T>A (p.Phe540Ile)
c.1615T>A (p.Phe539Ile)
c.1630T>A (p.Phe544Ile)
c.1627T>A (p.Phe543Ile)
c.1402T>A (p.Phe468Ile)
n.2120T>A
n.2134T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875275T>CCA1637562ABCG8c.1618T>C (p.Phe540Leu)
c.1615T>C (p.Phe539Leu)
c.1630T>C (p.Phe544Leu)
c.1627T>C (p.Phe543Leu)
c.1402T>C (p.Phe468Leu)
n.2120T>C
n.2134T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875275T>GCA346670454ABCG8c.1618T>G (p.Phe540Val)
c.1615T>G (p.Phe539Val)
c.1630T>G (p.Phe544Val)
c.1627T>G (p.Phe543Val)
c.1402T>G (p.Phe468Val)
n.2120T>G
n.2134T>G
2g.43875275T=CA2493963658ABCG8c.1618T= (p.Phe540=)
c.1615T= (p.Phe539=)
c.1630T= (p.Phe544=)
c.1627T= (p.Phe543=)
c.1402T= (p.Phe468=)
n.2120T=
n.2134T=
2g.43875276T>ACA346670455ABCG8c.1619T>A (p.Phe540Tyr)
c.1616T>A (p.Phe539Tyr)
c.1631T>A (p.Phe544Tyr)
c.1628T>A (p.Phe543Tyr)
c.1403T>A (p.Phe468Tyr)
n.2121T>A
n.2135T>A
2g.43875276T>CCA346670456ABCG8c.1619T>C (p.Phe540Ser)
c.1616T>C (p.Phe539Ser)
c.1631T>C (p.Phe544Ser)
c.1628T>C (p.Phe543Ser)
c.1403T>C (p.Phe468Ser)
n.2121T>C
n.2135T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875276T>GCA346670457ABCG8c.1619T>G (p.Phe540Cys)
c.1616T>G (p.Phe539Cys)
c.1631T>G (p.Phe544Cys)
c.1628T>G (p.Phe543Cys)
c.1403T>G (p.Phe468Cys)
n.2121T>G
n.2135T>G
2g.43875276T=CA2493963659ABCG8c.1619T= (p.Phe540=)
c.1616T= (p.Phe539=)
c.1631T= (p.Phe544=)
c.1628T= (p.Phe543=)
c.1403T= (p.Phe468=)
n.2121T=
n.2135T=
2g.43875277C>ACA346670458ABCG8c.1620C>A (p.Phe540Leu)
c.1617C>A (p.Phe539Leu)
c.1632C>A (p.Phe544Leu)
c.1629C>A (p.Phe543Leu)
c.1404C>A (p.Phe468Leu)
n.2122C>A
n.2136C>A
2g.43875277C=CA2493963660ABCG8c.1620C= (p.Phe540=)
c.1617C= (p.Phe539=)
c.1632C= (p.Phe544=)
c.1629C= (p.Phe543=)
c.1404C= (p.Phe468=)
n.2122C=
n.2136C=
2g.43875277C>GCA346670459ABCG8c.1620C>G (p.Phe540Leu)
c.1617C>G (p.Phe539Leu)
c.1632C>G (p.Phe544Leu)
c.1629C>G (p.Phe543Leu)
c.1404C>G (p.Phe468Leu)
n.2122C>G
n.2136C>G
 dbSNP gnomAD v2 gnomAD v4
2g.43875277C>TCA1637564ABCG8c.1620C>T (p.Phe540=)
c.1617C>T (p.Phe539=)
c.1632C>T (p.Phe544=)
c.1629C>T (p.Phe543=)
c.1404C>T (p.Phe468=)
n.2122C>T
n.2136C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875278T>ACA346670460ABCG8c.1621T>A (p.Cys541Ser)
c.1618T>A (p.Cys540Ser)
c.1633T>A (p.Cys545Ser)
c.1630T>A (p.Cys544Ser)
c.1405T>A (p.Cys469Ser)
n.2123T>A
n.2137T>A
2g.43875278T>CCA346670461ABCG8c.1621T>C (p.Cys541Arg)
c.1618T>C (p.Cys540Arg)
c.1633T>C (p.Cys545Arg)
c.1630T>C (p.Cys544Arg)
c.1405T>C (p.Cys469Arg)
n.2123T>C
n.2137T>C
2g.43875278T>GCA346670462ABCG8c.1621T>G (p.Cys541Gly)
c.1618T>G (p.Cys540Gly)
c.1633T>G (p.Cys545Gly)
c.1630T>G (p.Cys544Gly)
c.1405T>G (p.Cys469Gly)
n.2123T>G
n.2137T>G
2g.43875279G>ACA346670463ABCG8c.1622G>A (p.Cys541Tyr)
c.1619G>A (p.Cys540Tyr)
c.1634G>A (p.Cys545Tyr)
c.1631G>A (p.Cys544Tyr)
c.1406G>A (p.Cys469Tyr)
n.2124G>A
n.2138G>A
 gnomAD v4
2g.43875279G>CCA346670464ABCG8c.1622G>C (p.Cys541Ser)
c.1619G>C (p.Cys540Ser)
c.1634G>C (p.Cys545Ser)
c.1631G>C (p.Cys544Ser)
c.1406G>C (p.Cys469Ser)
n.2124G>C
n.2138G>C
2g.43875279G=CA2493963661ABCG8c.1622G= (p.Cys541=)
c.1619G= (p.Cys540=)
c.1634G= (p.Cys545=)
c.1631G= (p.Cys544=)
c.1406G= (p.Cys469=)
n.2124G=
n.2138G=
2g.43875279G>TCA1637565ABCG8c.1622G>T (p.Cys541Phe)
c.1619G>T (p.Cys540Phe)
c.1634G>T (p.Cys545Phe)
c.1631G>T (p.Cys544Phe)
c.1406G>T (p.Cys469Phe)
n.2124G>T
n.2138G>T
 dbSNP ExAC
2g.43875280T>ACA346670465ABCG8c.1623T>A (p.Cys541Ter)
c.1620T>A (p.Cys540Ter)
c.1635T>A (p.Cys545Ter)
c.1632T>A (p.Cys544Ter)
c.1407T>A (p.Cys469Ter)
n.2125T>A
n.2139T>A
2g.43875280T>CCA426116396ABCG8c.1623T>C (p.Cys541=)
c.1620T>C (p.Cys540=)
c.1635T>C (p.Cys545=)
c.1632T>C (p.Cys544=)
c.1407T>C (p.Cys469=)
n.2125T>C
n.2139T>C
2g.43875280T>GCA346670466ABCG8c.1623T>G (p.Cys541Trp)
c.1620T>G (p.Cys540Trp)
c.1635T>G (p.Cys545Trp)
c.1632T>G (p.Cys544Trp)
c.1407T>G (p.Cys469Trp)
n.2125T>G
n.2139T>G
2g.43875281T>ACA346670467ABCG8c.1624T>A (p.Cys542Ser)
c.1621T>A (p.Cys541Ser)
c.1636T>A (p.Cys546Ser)
c.1633T>A (p.Cys545Ser)
c.1408T>A (p.Cys470Ser)
n.2126T>A
n.2140T>A
2g.43875281T>CCA1637566ABCG8c.1624T>C (p.Cys542Arg)
c.1621T>C (p.Cys541Arg)
c.1636T>C (p.Cys546Arg)
c.1633T>C (p.Cys545Arg)
c.1408T>C (p.Cys470Arg)
n.2126T>C
n.2140T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875281T>GCA346670468ABCG8c.1624T>G (p.Cys542Gly)
c.1621T>G (p.Cys541Gly)
c.1636T>G (p.Cys546Gly)
c.1633T>G (p.Cys545Gly)
c.1408T>G (p.Cys470Gly)
n.2126T>G
n.2140T>G
2g.43875281T=CA2493963662ABCG8c.1624T= (p.Cys542=)
c.1621T= (p.Cys541=)
c.1636T= (p.Cys546=)
c.1633T= (p.Cys545=)
c.1408T= (p.Cys470=)
n.2126T=
n.2140T=
2g.43875282G>ACA346670469ABCG8c.1625G>A (p.Cys542Tyr)
c.1622G>A (p.Cys541Tyr)
c.1637G>A (p.Cys546Tyr)
c.1634G>A (p.Cys545Tyr)
c.1409G>A (p.Cys470Tyr)
n.2127G>A
n.2141G>A
 ClinVar
2g.43875282G>CCA346670470ABCG8c.1625G>C (p.Cys542Ser)
c.1622G>C (p.Cys541Ser)
c.1637G>C (p.Cys546Ser)
c.1634G>C (p.Cys545Ser)
c.1409G>C (p.Cys470Ser)
n.2127G>C
n.2141G>C
2g.43875282G>TCA346670471ABCG8c.1625G>T (p.Cys542Phe)
c.1622G>T (p.Cys541Phe)
c.1637G>T (p.Cys546Phe)
c.1634G>T (p.Cys545Phe)
c.1409G>T (p.Cys470Phe)
n.2127G>T
n.2141G>T
2g.43875283C>ACA346670472ABCG8c.1626C>A (p.Cys542Ter)
c.1623C>A (p.Cys541Ter)
c.1638C>A (p.Cys546Ter)
c.1635C>A (p.Cys545Ter)
c.1410C>A (p.Cys470Ter)
n.2128C>A
n.2142C>A
2g.43875283C>GCA346670473ABCG8c.1626C>G (p.Cys542Trp)
c.1623C>G (p.Cys541Trp)
c.1638C>G (p.Cys546Trp)
c.1635C>G (p.Cys545Trp)
c.1410C>G (p.Cys470Trp)
n.2128C>G
n.2142C>G
2g.43875283C>TCA426116398ABCG8c.1626C>T (p.Cys542=)
c.1623C>T (p.Cys541=)
c.1638C>T (p.Cys546=)
c.1635C>T (p.Cys545=)
c.1410C>T (p.Cys470=)
n.2128C>T
n.2142C>T
2g.43875284A>CCA426116400ABCG8c.1627A>C (p.Arg543=)
c.1624A>C (p.Arg542=)
c.1639A>C (p.Arg547=)
c.1636A>C (p.Arg546=)
c.1411A>C (p.Arg471=)
n.2129A>C
n.2143A>C
2g.43875284A>GCA346670474ABCG8c.1627A>G (p.Arg543Gly)
c.1624A>G (p.Arg542Gly)
c.1639A>G (p.Arg547Gly)
c.1636A>G (p.Arg546Gly)
c.1411A>G (p.Arg471Gly)
n.2129A>G
n.2143A>G
 gnomAD v4
2g.43875284A>TCA346670475ABCG8c.1627A>T (p.Arg543Trp)
c.1624A>T (p.Arg542Trp)
c.1639A>T (p.Arg547Trp)
c.1636A>T (p.Arg546Trp)
c.1411A>T (p.Arg471Trp)
n.2129A>T
n.2143A>T
2g.43875285G>ACA346670476ABCG8c.1628G>A (p.Arg543Lys)
c.1625G>A (p.Arg542Lys)
c.1640G>A (p.Arg547Lys)
c.1637G>A (p.Arg546Lys)
c.1412G>A (p.Arg471Lys)
n.2130G>A
n.2144G>A
 gnomAD v4 COSMIC
2g.43875285G>CCA346670477ABCG8c.1628G>C (p.Arg543Thr)
c.1625G>C (p.Arg542Thr)
c.1640G>C (p.Arg547Thr)
c.1637G>C (p.Arg546Thr)
c.1412G>C (p.Arg471Thr)
n.2130G>C
n.2144G>C
2g.43875285G>TCA346670478ABCG8c.1628G>T (p.Arg543Met)
c.1625G>T (p.Arg542Met)
c.1640G>T (p.Arg547Met)
c.1637G>T (p.Arg546Met)
c.1412G>T (p.Arg471Met)
n.2130G>T
n.2144G>T
2g.43875286G>ACA426116401ABCG8c.1629G>A (p.Arg543=)
c.1626G>A (p.Arg542=)
c.1641G>A (p.Arg547=)
c.1638G>A (p.Arg546=)
c.1413G>A (p.Arg471=)
n.2131G>A
n.2145G>A
 ClinVar dbSNP
2g.43875286G>CCA346670479ABCG8c.1629G>C (p.Arg543Ser)
c.1626G>C (p.Arg542Ser)
c.1641G>C (p.Arg547Ser)
c.1638G>C (p.Arg546Ser)
c.1413G>C (p.Arg471Ser)
n.2131G>C
n.2145G>C
2g.43875286G=CA2493963663ABCG8c.1629G= (p.Arg543=)
c.1626G= (p.Arg542=)
c.1641G= (p.Arg547=)
c.1638G= (p.Arg546=)
c.1413G= (p.Arg471=)
n.2131G=
n.2145G=
2g.43875286G>TCA1637567ABCG8c.1629G>T (p.Arg543Ser)
c.1626G>T (p.Arg542Ser)
c.1641G>T (p.Arg547Ser)
c.1638G>T (p.Arg546Ser)
c.1413G>T (p.Arg471Ser)
n.2131G>T
n.2145G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875287A>CCA346670480ABCG8c.1630A>C (p.Ile544Leu)
c.1627A>C (p.Ile543Leu)
c.1642A>C (p.Ile548Leu)
c.1639A>C (p.Ile547Leu)
c.1414A>C (p.Ile472Leu)
n.2132A>C
n.2146A>C
 COSMIC
2g.43875287A>GCA346670481ABCG8c.1630A>G (p.Ile544Val)
c.1627A>G (p.Ile543Val)
c.1642A>G (p.Ile548Val)
c.1639A>G (p.Ile547Val)
c.1414A>G (p.Ile472Val)
n.2132A>G
n.2146A>G
2g.43875287A>TCA346670482ABCG8c.1630A>T (p.Ile544Phe)
c.1627A>T (p.Ile543Phe)
c.1642A>T (p.Ile548Phe)
c.1639A>T (p.Ile547Phe)
c.1414A>T (p.Ile472Phe)
n.2132A>T
n.2146A>T
2g.43875288T>ACA346670483ABCG8c.1631T>A (p.Ile544Asn)
c.1628T>A (p.Ile543Asn)
c.1643T>A (p.Ile548Asn)
c.1640T>A (p.Ile547Asn)
c.1415T>A (p.Ile472Asn)
n.2133T>A
n.2147T>A
 dbSNP gnomAD v4
2g.43875288T>CCA346670484ABCG8c.1631T>C (p.Ile544Thr)
c.1628T>C (p.Ile543Thr)
c.1643T>C (p.Ile548Thr)
c.1640T>C (p.Ile547Thr)
c.1415T>C (p.Ile472Thr)
n.2133T>C
n.2147T>C
 dbSNP gnomAD v2 gnomAD v4
2g.43875288T>GCA346670485ABCG8c.1631T>G (p.Ile544Ser)
c.1628T>G (p.Ile543Ser)
c.1643T>G (p.Ile548Ser)
c.1640T>G (p.Ile547Ser)
c.1415T>G (p.Ile472Ser)
n.2133T>G
n.2147T>G
2g.43875288T=CA2493963664ABCG8c.1631T= (p.Ile544=)
c.1628T= (p.Ile543=)
c.1643T= (p.Ile548=)
c.1640T= (p.Ile547=)
c.1415T= (p.Ile472=)
n.2133T=
n.2147T=
2g.43875289T>ACA426116402ABCG8c.1632T>A (p.Ile544=)
c.1629T>A (p.Ile543=)
c.1644T>A (p.Ile548=)
c.1641T>A (p.Ile547=)
c.1416T>A (p.Ile472=)
n.2134T>A
n.2148T>A
2g.43875289T>CCA426116403ABCG8c.1632T>C (p.Ile544=)
c.1629T>C (p.Ile543=)
c.1644T>C (p.Ile548=)
c.1641T>C (p.Ile547=)
c.1416T>C (p.Ile472=)
n.2134T>C
n.2148T>C
2g.43875289T>GCA346670486ABCG8c.1632T>G (p.Ile544Met)
c.1629T>G (p.Ile543Met)
c.1644T>G (p.Ile548Met)
c.1641T>G (p.Ile547Met)
c.1416T>G (p.Ile472Met)
n.2134T>G
n.2148T>G
 COSMIC
2g.43875290A>CCA346670487ABCG8c.1633A>C (p.Met545Leu)
c.1630A>C (p.Met544Leu)
c.1645A>C (p.Met549Leu)
c.1642A>C (p.Met548Leu)
c.1417A>C (p.Met473Leu)
n.2135A>C
n.2149A>C
2g.43875290A>GCA346670488ABCG8c.1633A>G (p.Met545Val)
c.1630A>G (p.Met544Val)
c.1645A>G (p.Met549Val)
c.1642A>G (p.Met548Val)
c.1417A>G (p.Met473Val)
n.2135A>G
n.2149A>G
2g.43875290A>TCA346670489ABCG8c.1633A>T (p.Met545Leu)
c.1630A>T (p.Met544Leu)
c.1645A>T (p.Met549Leu)
c.1642A>T (p.Met548Leu)
c.1417A>T (p.Met473Leu)
n.2135A>T
n.2149A>T
2g.43875291T>ACA346670490ABCG8c.1634T>A (p.Met545Lys)
c.1631T>A (p.Met544Lys)
c.1646T>A (p.Met549Lys)
c.1643T>A (p.Met548Lys)
c.1418T>A (p.Met473Lys)
n.2136T>A
n.2150T>A
2g.43875291T>CCA346670491ABCG8c.1634T>C (p.Met545Thr)
c.1631T>C (p.Met544Thr)
c.1646T>C (p.Met549Thr)
c.1643T>C (p.Met548Thr)
c.1418T>C (p.Met473Thr)
n.2136T>C
n.2150T>C
2g.43875291T>GCA346670492ABCG8c.1634T>G (p.Met545Arg)
c.1631T>G (p.Met544Arg)
c.1646T>G (p.Met549Arg)
c.1643T>G (p.Met548Arg)
c.1418T>G (p.Met473Arg)
n.2136T>G
n.2150T>G

Number of alleles fetched