Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.43875292G>ACA346670493ABCG8c.1635G>A (p.Met545Ile)
c.1632G>A (p.Met544Ile)
c.1647G>A (p.Met549Ile)
c.1644G>A (p.Met548Ile)
c.1419G>A (p.Met473Ile)
n.2137G>A
n.2151G>A
 dbSNP gnomAD v4
2g.43875292G>CCA346670495ABCG8c.1635G>C (p.Met545Ile)
c.1632G>C (p.Met544Ile)
c.1647G>C (p.Met549Ile)
c.1644G>C (p.Met548Ile)
c.1419G>C (p.Met473Ile)
n.2137G>C
n.2151G>C
2g.43875292G=CA2493963665ABCG8c.1635G= (p.Met545=)
c.1632G= (p.Met544=)
c.1647G= (p.Met549=)
c.1644G= (p.Met548=)
c.1419G= (p.Met473=)
n.2137G=
n.2151G=
2g.43875292G>TCA346670494ABCG8c.1635G>T (p.Met545Ile)
c.1632G>T (p.Met544Ile)
c.1647G>T (p.Met549Ile)
c.1644G>T (p.Met548Ile)
c.1419G>T (p.Met473Ile)
n.2137G>T
n.2151G>T
2g.43875293G>ACA46471176ABCG8c.1636G>A (p.Ala546Thr)
c.1633G>A (p.Ala545Thr)
c.1648G>A (p.Ala550Thr)
c.1645G>A (p.Ala549Thr)
c.1420G>A (p.Ala474Thr)
n.2138G>A
n.2152G>A
 dbSNP gnomAD v4
2g.43875293G>CCA346670496ABCG8c.1636G>C (p.Ala546Pro)
c.1633G>C (p.Ala545Pro)
c.1648G>C (p.Ala550Pro)
c.1645G>C (p.Ala549Pro)
c.1420G>C (p.Ala474Pro)
n.2138G>C
n.2152G>C
2g.43875293G=CA2493963666ABCG8c.1636G= (p.Ala546=)
c.1633G= (p.Ala545=)
c.1648G= (p.Ala550=)
c.1645G= (p.Ala549=)
c.1420G= (p.Ala474=)
n.2138G=
n.2152G=
2g.43875293G>TCA346670497ABCG8c.1636G>T (p.Ala546Ser)
c.1633G>T (p.Ala545Ser)
c.1648G>T (p.Ala550Ser)
c.1645G>T (p.Ala549Ser)
c.1420G>T (p.Ala474Ser)
n.2138G>T
n.2152G>T
 COSMIC
2g.43875294C>ACA346670498ABCG8c.1637C>A (p.Ala546Asp)
c.1634C>A (p.Ala545Asp)
c.1649C>A (p.Ala550Asp)
c.1646C>A (p.Ala549Asp)
c.1421C>A (p.Ala474Asp)
n.2139C>A
n.2153C>A
2g.43875294C=CA2493963667ABCG8c.1637C= (p.Ala546=)
c.1634C= (p.Ala545=)
c.1649C= (p.Ala550=)
c.1646C= (p.Ala549=)
c.1421C= (p.Ala474=)
n.2139C=
n.2153C=
2g.43875294C>GCA346670499ABCG8c.1637C>G (p.Ala546Gly)
c.1634C>G (p.Ala545Gly)
c.1649C>G (p.Ala550Gly)
c.1646C>G (p.Ala549Gly)
c.1421C>G (p.Ala474Gly)
n.2139C>G
n.2153C>G
2g.43875294C>TCA46471181ABCG8c.1637C>T (p.Ala546Val)
c.1634C>T (p.Ala545Val)
c.1649C>T (p.Ala550Val)
c.1646C>T (p.Ala549Val)
c.1421C>T (p.Ala474Val)
n.2139C>T
n.2153C>T
 ClinVar dbSNP gnomAD v4
2g.43875295C>ACA426116404ABCG8c.1638C>A (p.Ala546=)
c.1635C>A (p.Ala545=)
c.1650C>A (p.Ala550=)
c.1647C>A (p.Ala549=)
c.1422C>A (p.Ala474=)
n.2140C>A
n.2154C>A
 gnomAD v4
2g.43875295C=CA2493963668ABCG8c.1638C= (p.Ala546=)
c.1635C= (p.Ala545=)
c.1650C= (p.Ala550=)
c.1647C= (p.Ala549=)
c.1422C= (p.Ala474=)
n.2140C=
n.2154C=
2g.43875295C>GCA426116405ABCG8c.1638C>G (p.Ala546=)
c.1635C>G (p.Ala545=)
c.1650C>G (p.Ala550=)
c.1647C>G (p.Ala549=)
c.1422C>G (p.Ala474=)
n.2140C>G
n.2154C>G
 COSMIC
2g.43875295C>TCA1637568ABCG8c.1638C>T (p.Ala546=)
c.1635C>T (p.Ala545=)
c.1650C>T (p.Ala550=)
c.1647C>T (p.Ala549=)
c.1422C>T (p.Ala474=)
n.2140C>T
n.2154C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875296C>ACA346670500ABCG8c.1639C>A (p.Leu547Met)
c.1636C>A (p.Leu546Met)
c.1651C>A (p.Leu551Met)
c.1648C>A (p.Leu550Met)
c.1423C>A (p.Leu475Met)
n.2141C>A
n.2155C>A
2g.43875296C>GCA346670501ABCG8c.1639C>G (p.Leu547Val)
c.1636C>G (p.Leu546Val)
c.1651C>G (p.Leu551Val)
c.1648C>G (p.Leu550Val)
c.1423C>G (p.Leu475Val)
n.2141C>G
n.2155C>G
2g.43875296C>TCA426116406ABCG8c.1639C>T (p.Leu547=)
c.1636C>T (p.Leu546=)
c.1651C>T (p.Leu551=)
c.1648C>T (p.Leu550=)
c.1423C>T (p.Leu475=)
n.2141C>T
n.2155C>T
2g.43875297T>ACA346670502ABCG8c.1640T>A (p.Leu547Gln)
c.1637T>A (p.Leu546Gln)
c.1652T>A (p.Leu551Gln)
c.1649T>A (p.Leu550Gln)
c.1424T>A (p.Leu475Gln)
n.2142T>A
n.2156T>A
2g.43875297T>CCA346670503ABCG8c.1640T>C (p.Leu547Pro)
c.1637T>C (p.Leu546Pro)
c.1652T>C (p.Leu551Pro)
c.1649T>C (p.Leu550Pro)
c.1424T>C (p.Leu475Pro)
n.2142T>C
n.2156T>C
 gnomAD v4
2g.43875297T>GCA346670504ABCG8c.1640T>G (p.Leu547Arg)
c.1637T>G (p.Leu546Arg)
c.1652T>G (p.Leu551Arg)
c.1649T>G (p.Leu550Arg)
c.1424T>G (p.Leu475Arg)
n.2142T>G
n.2156T>G
 dbSNP gnomAD v3 gnomAD v4
2g.43875297T=CA2493963669ABCG8c.1640T= (p.Leu547=)
c.1637T= (p.Leu546=)
c.1652T= (p.Leu551=)
c.1649T= (p.Leu550=)
c.1424T= (p.Leu475=)
n.2142T=
n.2156T=
2g.43875298G>ACA426116407ABCG8c.1641G>A (p.Leu547=)
c.1638G>A (p.Leu546=)
c.1653G>A (p.Leu551=)
c.1650G>A (p.Leu550=)
c.1425G>A (p.Leu475=)
n.2143G>A
n.2157G>A
2g.43875298G>CCA426116408ABCG8c.1641G>C (p.Leu547=)
c.1638G>C (p.Leu546=)
c.1653G>C (p.Leu551=)
c.1650G>C (p.Leu550=)
c.1425G>C (p.Leu475=)
n.2143G>C
n.2157G>C
2g.43875298G>TCA426116409ABCG8c.1641G>T (p.Leu547=)
c.1638G>T (p.Leu546=)
c.1653G>T (p.Leu551=)
c.1650G>T (p.Leu550=)
c.1425G>T (p.Leu475=)
n.2143G>T
n.2157G>T
2g.43875299G>ACA1637570ABCG8c.1642G>A (p.Ala548Thr)
c.1639G>A (p.Ala547Thr)
c.1654G>A (p.Ala552Thr)
c.1651G>A (p.Ala551Thr)
c.1426G>A (p.Ala476Thr)
n.2144G>A
n.2158G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875299G>CCA346670505ABCG8c.1642G>C (p.Ala548Pro)
c.1639G>C (p.Ala547Pro)
c.1654G>C (p.Ala552Pro)
c.1651G>C (p.Ala551Pro)
c.1426G>C (p.Ala476Pro)
n.2144G>C
n.2158G>C
2g.43875299G=CA2493963670ABCG8c.1642G= (p.Ala548=)
c.1639G= (p.Ala547=)
c.1654G= (p.Ala552=)
c.1651G= (p.Ala551=)
c.1426G= (p.Ala476=)
n.2144G=
n.2158G=
2g.43875299G>TCA1637569ABCG8c.1642G>T (p.Ala548Ser)
c.1639G>T (p.Ala547Ser)
c.1654G>T (p.Ala552Ser)
c.1651G>T (p.Ala551Ser)
c.1426G>T (p.Ala476Ser)
n.2144G>T
n.2158G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875300C>ACA1637571ABCG8c.1643C>A (p.Ala548Asp)
c.1640C>A (p.Ala547Asp)
c.1655C>A (p.Ala552Asp)
c.1652C>A (p.Ala551Asp)
c.1427C>A (p.Ala476Asp)
n.2145C>A
n.2159C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875300C=CA2493963671ABCG8c.1643C= (p.Ala548=)
c.1640C= (p.Ala547=)
c.1655C= (p.Ala552=)
c.1652C= (p.Ala551=)
c.1427C= (p.Ala476=)
n.2145C=
n.2159C=
2g.43875300C>GCA346670506ABCG8c.1643C>G (p.Ala548Gly)
c.1640C>G (p.Ala547Gly)
c.1655C>G (p.Ala552Gly)
c.1652C>G (p.Ala551Gly)
c.1427C>G (p.Ala476Gly)
n.2145C>G
n.2159C>G
2g.43875300C>TCA1637572ABCG8c.1643C>T (p.Ala548Val)
c.1640C>T (p.Ala547Val)
c.1655C>T (p.Ala552Val)
c.1652C>T (p.Ala551Val)
c.1427C>T (p.Ala476Val)
n.2145C>T
n.2159C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875301C>ACA426116410ABCG8c.1644C>A (p.Ala548=)
c.1641C>A (p.Ala547=)
c.1656C>A (p.Ala552=)
c.1653C>A (p.Ala551=)
c.1428C>A (p.Ala476=)
n.2146C>A
n.2160C>A
2g.43875301C=CA2493963672ABCG8c.1644C= (p.Ala548=)
c.1641C= (p.Ala547=)
c.1656C= (p.Ala552=)
c.1653C= (p.Ala551=)
c.1428C= (p.Ala476=)
n.2146C=
n.2160C=
2g.43875301C>GCA426116411ABCG8c.1644C>G (p.Ala548=)
c.1641C>G (p.Ala547=)
c.1656C>G (p.Ala552=)
c.1653C>G (p.Ala551=)
c.1428C>G (p.Ala476=)
n.2146C>G
n.2160C>G
2g.43875301C>TCA1637573ABCG8c.1644C>T (p.Ala548=)
c.1641C>T (p.Ala547=)
c.1656C>T (p.Ala552=)
c.1653C>T (p.Ala551=)
c.1428C>T (p.Ala476=)
n.2146C>T
n.2160C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875302G>ACA1637574ABCG8c.1645G>A (p.Ala549Thr)
c.1642G>A (p.Ala548Thr)
c.1657G>A (p.Ala553Thr)
c.1654G>A (p.Ala552Thr)
c.1429G>A (p.Ala477Thr)
n.2147G>A
n.2161G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875302G>CCA1637575ABCG8c.1645G>C (p.Ala549Pro)
c.1642G>C (p.Ala548Pro)
c.1657G>C (p.Ala553Pro)
c.1654G>C (p.Ala552Pro)
c.1429G>C (p.Ala477Pro)
n.2147G>C
n.2161G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875302G=CA2493963673ABCG8c.1645G= (p.Ala549=)
c.1642G= (p.Ala548=)
c.1657G= (p.Ala553=)
c.1654G= (p.Ala552=)
c.1429G= (p.Ala477=)
n.2147G=
n.2161G=
2g.43875302G>TCA346670507ABCG8c.1645G>T (p.Ala549Ser)
c.1642G>T (p.Ala548Ser)
c.1657G>T (p.Ala553Ser)
c.1654G>T (p.Ala552Ser)
c.1429G>T (p.Ala477Ser)
n.2147G>T
n.2161G>T
 gnomAD v4
2g.43875303C>ACA346670508ABCG8c.1646C>A (p.Ala549Asp)
c.1643C>A (p.Ala548Asp)
c.1658C>A (p.Ala553Asp)
c.1655C>A (p.Ala552Asp)
c.1430C>A (p.Ala477Asp)
n.2148C>A
n.2162C>A
2g.43875303C=CA2493963674ABCG8c.1646C= (p.Ala549=)
c.1643C= (p.Ala548=)
c.1658C= (p.Ala553=)
c.1655C= (p.Ala552=)
c.1430C= (p.Ala477=)
n.2148C=
n.2162C=
2g.43875303C>GCA346670509ABCG8c.1646C>G (p.Ala549Gly)
c.1643C>G (p.Ala548Gly)
c.1658C>G (p.Ala553Gly)
c.1655C>G (p.Ala552Gly)
c.1430C>G (p.Ala477Gly)
n.2148C>G
n.2162C>G
2g.43875303C>TCA46471277ABCG8c.1646C>T (p.Ala549Val)
c.1643C>T (p.Ala548Val)
c.1658C>T (p.Ala553Val)
c.1655C>T (p.Ala552Val)
c.1430C>T (p.Ala477Val)
n.2148C>T
n.2162C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875304C>ACA426116412ABCG8c.1647C>A (p.Ala549=)
c.1644C>A (p.Ala548=)
c.1659C>A (p.Ala553=)
c.1656C>A (p.Ala552=)
c.1431C>A (p.Ala477=)
n.2149C>A
n.2163C>A
2g.43875304C=CA2493963675ABCG8c.1647C= (p.Ala549=)
c.1644C= (p.Ala548=)
c.1659C= (p.Ala553=)
c.1656C= (p.Ala552=)
c.1431C= (p.Ala477=)
n.2149C=
n.2163C=
2g.43875304C>GCA426116413ABCG8c.1647C>G (p.Ala549=)
c.1644C>G (p.Ala548=)
c.1659C>G (p.Ala553=)
c.1656C>G (p.Ala552=)
c.1431C>G (p.Ala477=)
n.2149C>G
n.2163C>G
2g.43875304C>TCA1637576ABCG8c.1647C>T (p.Ala549=)
c.1644C>T (p.Ala548=)
c.1659C>T (p.Ala553=)
c.1656C>T (p.Ala552=)
c.1431C>T (p.Ala477=)
n.2149C>T
n.2163C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875305G>ACA1637577ABCG8c.1648G>A (p.Ala550Thr)
c.1645G>A (p.Ala549Thr)
c.1660G>A (p.Ala554Thr)
c.1657G>A (p.Ala553Thr)
c.1432G>A (p.Ala478Thr)
n.2150G>A
n.2164G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.43875305G>CCA346670511ABCG8c.1648G>C (p.Ala550Pro)
c.1645G>C (p.Ala549Pro)
c.1660G>C (p.Ala554Pro)
c.1657G>C (p.Ala553Pro)
c.1432G>C (p.Ala478Pro)
n.2150G>C
n.2164G>C
2g.43875305G=CA2493963676ABCG8c.1648G= (p.Ala550=)
c.1645G= (p.Ala549=)
c.1660G= (p.Ala554=)
c.1657G= (p.Ala553=)
c.1432G= (p.Ala478=)
n.2150G=
n.2164G=
2g.43875305G>TCA346670510ABCG8c.1648G>T (p.Ala550Ser)
c.1645G>T (p.Ala549Ser)
c.1660G>T (p.Ala554Ser)
c.1657G>T (p.Ala553Ser)
c.1432G>T (p.Ala478Ser)
n.2150G>T
n.2164G>T
 dbSNP gnomAD v4
2g.43875306C>ACA1637579ABCG8c.1649C>A (p.Ala550Glu)
c.1646C>A (p.Ala549Glu)
c.1661C>A (p.Ala554Glu)
c.1658C>A (p.Ala553Glu)
c.1433C>A (p.Ala478Glu)
n.2151C>A
n.2165C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875306C=CA2493963677ABCG8c.1649C= (p.Ala550=)
c.1646C= (p.Ala549=)
c.1661C= (p.Ala554=)
c.1658C= (p.Ala553=)
c.1433C= (p.Ala478=)
n.2151C=
n.2165C=
2g.43875306C>GCA346670512ABCG8c.1649C>G (p.Ala550Gly)
c.1646C>G (p.Ala549Gly)
c.1661C>G (p.Ala554Gly)
c.1658C>G (p.Ala553Gly)
c.1433C>G (p.Ala478Gly)
n.2151C>G
n.2165C>G
2g.43875306C>TCA1637578ABCG8c.1649C>T (p.Ala550Val)
c.1646C>T (p.Ala549Val)
c.1661C>T (p.Ala554Val)
c.1658C>T (p.Ala553Val)
c.1433C>T (p.Ala478Val)
n.2151C>T
n.2165C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875307G>ACA1637580ABCG8c.1650G>A (p.Ala550=)
c.1647G>A (p.Ala549=)
c.1662G>A (p.Ala554=)
c.1659G>A (p.Ala553=)
c.1434G>A (p.Ala478=)
n.2152G>A
n.2166G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875307G>CCA426116415ABCG8c.1650G>C (p.Ala550=)
c.1647G>C (p.Ala549=)
c.1662G>C (p.Ala554=)
c.1659G>C (p.Ala553=)
c.1434G>C (p.Ala478=)
n.2152G>C
n.2166G>C
2g.43875307G=CA2493963678ABCG8c.1650G= (p.Ala550=)
c.1647G= (p.Ala549=)
c.1662G= (p.Ala554=)
c.1659G= (p.Ala553=)
c.1434G= (p.Ala478=)
n.2152G=
n.2166G=
2g.43875307G>TCA426116414ABCG8c.1650G>T (p.Ala550=)
c.1647G>T (p.Ala549=)
c.1662G>T (p.Ala554=)
c.1659G>T (p.Ala553=)
c.1434G>T (p.Ala478=)
n.2152G>T
n.2166G>T
2g.43875308G>ACA346670514ABCG8c.1651G>A (p.Ala551Thr)
c.1648G>A (p.Ala550Thr)
c.1663G>A (p.Ala555Thr)
c.1660G>A (p.Ala554Thr)
c.1435G>A (p.Ala479Thr)
n.2153G>A
n.2167G>A
 gnomAD v4
2g.43875308G>CCA346670513ABCG8c.1651G>C (p.Ala551Pro)
c.1648G>C (p.Ala550Pro)
c.1663G>C (p.Ala555Pro)
c.1660G>C (p.Ala554Pro)
c.1435G>C (p.Ala479Pro)
n.2153G>C
n.2167G>C
2g.43875308G>TCA346670515ABCG8c.1651G>T (p.Ala551Ser)
c.1648G>T (p.Ala550Ser)
c.1663G>T (p.Ala555Ser)
c.1660G>T (p.Ala554Ser)
c.1435G>T (p.Ala479Ser)
n.2153G>T
n.2167G>T
2g.43875309C>ACA346670516ABCG8c.1652C>A (p.Ala551Asp)
c.1649C>A (p.Ala550Asp)
c.1664C>A (p.Ala555Asp)
c.1661C>A (p.Ala554Asp)
c.1436C>A (p.Ala479Asp)
n.2154C>A
n.2168C>A
2g.43875309C>GCA346670517ABCG8c.1652C>G (p.Ala551Gly)
c.1649C>G (p.Ala550Gly)
c.1664C>G (p.Ala555Gly)
c.1661C>G (p.Ala554Gly)
c.1436C>G (p.Ala479Gly)
n.2154C>G
n.2168C>G
2g.43875309C>TCA346670518ABCG8c.1652C>T (p.Ala551Val)
c.1649C>T (p.Ala550Val)
c.1664C>T (p.Ala555Val)
c.1661C>T (p.Ala554Val)
c.1436C>T (p.Ala479Val)
n.2154C>T
n.2168C>T
2g.43875310C>ACA426116418ABCG8c.1653C>A (p.Ala551=)
c.1650C>A (p.Ala550=)
c.1665C>A (p.Ala555=)
c.1662C>A (p.Ala554=)
c.1437C>A (p.Ala479=)
n.2155C>A
n.2169C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43875310C=CA2493963679ABCG8c.1653C= (p.Ala551=)
c.1650C= (p.Ala550=)
c.1665C= (p.Ala555=)
c.1662C= (p.Ala554=)
c.1437C= (p.Ala479=)
n.2155C=
n.2169C=
2g.43875310C>GCA426116417ABCG8c.1653C>G (p.Ala551=)
c.1650C>G (p.Ala550=)
c.1665C>G (p.Ala555=)
c.1662C>G (p.Ala554=)
c.1437C>G (p.Ala479=)
n.2155C>G
n.2169C>G
2g.43875310C>TCA426116416ABCG8c.1653C>T (p.Ala551=)
c.1650C>T (p.Ala550=)
c.1665C>T (p.Ala555=)
c.1662C>T (p.Ala554=)
c.1437C>T (p.Ala479=)
n.2155C>T
n.2169C>T
 gnomAD v4
2g.43875311C>ACA346670519ABCG8c.1654C>A (p.Leu552Met)
c.1651C>A (p.Leu551Met)
c.1666C>A (p.Leu556Met)
c.1663C>A (p.Leu555Met)
c.1438C>A (p.Leu480Met)
n.2156C>A
n.2170C>A
2g.43875311C=CA2493963680ABCG8c.1654C= (p.Leu552=)
c.1651C= (p.Leu551=)
c.1666C= (p.Leu556=)
c.1663C= (p.Leu555=)
c.1438C= (p.Leu480=)
n.2156C=
n.2170C=
2g.43875311C>GCA346670520ABCG8c.1654C>G (p.Leu552Val)
c.1651C>G (p.Leu551Val)
c.1666C>G (p.Leu556Val)
c.1663C>G (p.Leu555Val)
c.1438C>G (p.Leu480Val)
n.2156C>G
n.2170C>G
 dbSNP gnomAD v2 gnomAD v4
2g.43875311C>TCA426116419ABCG8c.1654C>T (p.Leu552=)
c.1651C>T (p.Leu551=)
c.1666C>T (p.Leu556=)
c.1663C>T (p.Leu555=)
c.1438C>T (p.Leu480=)
n.2156C>T
n.2170C>T
2g.43875312T>ACA346670521ABCG8c.1655T>A (p.Leu552Gln)
c.1652T>A (p.Leu551Gln)
c.1667T>A (p.Leu556Gln)
c.1664T>A (p.Leu555Gln)
c.1439T>A (p.Leu480Gln)
n.2157T>A
n.2171T>A
2g.43875312T>CCA346670522ABCG8c.1655T>C (p.Leu552Pro)
c.1652T>C (p.Leu551Pro)
c.1667T>C (p.Leu556Pro)
c.1664T>C (p.Leu555Pro)
c.1439T>C (p.Leu480Pro)
n.2157T>C
n.2171T>C
2g.43875312T>GCA346670523ABCG8c.1655T>G (p.Leu552Arg)
c.1652T>G (p.Leu551Arg)
c.1667T>G (p.Leu556Arg)
c.1664T>G (p.Leu555Arg)
c.1439T>G (p.Leu480Arg)
n.2157T>G
n.2171T>G
2g.43875313G>ACA1637581ABCG8c.1656G>A (p.Leu552=)
c.1653G>A (p.Leu551=)
c.1668G>A (p.Leu556=)
c.1665G>A (p.Leu555=)
c.1440G>A (p.Leu480=)
n.2158G>A
n.2172G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875313G>CCA426116420ABCG8c.1656G>C (p.Leu552=)
c.1653G>C (p.Leu551=)
c.1668G>C (p.Leu556=)
c.1665G>C (p.Leu555=)
c.1440G>C (p.Leu480=)
n.2158G>C
n.2172G>C
2g.43875313G=CA2493963681ABCG8c.1656G= (p.Leu552=)
c.1653G= (p.Leu551=)
c.1668G= (p.Leu556=)
c.1665G= (p.Leu555=)
c.1440G= (p.Leu480=)
n.2158G=
n.2172G=
2g.43875313G>TCA1637582ABCG8c.1656G>T (p.Leu552=)
c.1653G>T (p.Leu551=)
c.1668G>T (p.Leu556=)
c.1665G>T (p.Leu555=)
c.1440G>T (p.Leu480=)
n.2158G>T
n.2172G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875314C>ACA346670524ABCG8c.1657C>A (p.Leu553Ile)
c.1654C>A (p.Leu552Ile)
c.1669C>A (p.Leu557Ile)
c.1666C>A (p.Leu556Ile)
c.1441C>A (p.Leu481Ile)
n.2159C>A
n.2173C>A
 dbSNP
2g.43875314C=CA2493963682ABCG8c.1657C= (p.Leu553=)
c.1654C= (p.Leu552=)
c.1669C= (p.Leu557=)
c.1666C= (p.Leu556=)
c.1441C= (p.Leu481=)
n.2159C=
n.2173C=
2g.43875314C>GCA346670525ABCG8c.1657C>G (p.Leu553Val)
c.1654C>G (p.Leu552Val)
c.1669C>G (p.Leu557Val)
c.1666C>G (p.Leu556Val)
c.1441C>G (p.Leu481Val)
n.2159C>G
n.2173C>G
2g.43875314C>TCA346670526ABCG8c.1657C>T (p.Leu553Phe)
c.1654C>T (p.Leu552Phe)
c.1669C>T (p.Leu557Phe)
c.1666C>T (p.Leu556Phe)
c.1441C>T (p.Leu481Phe)
n.2159C>T
n.2173C>T
 ClinVar dbSNP gnomAD v4
2g.43875315T>ACA346670527ABCG8c.1658T>A (p.Leu553His)
c.1655T>A (p.Leu552His)
c.1670T>A (p.Leu557His)
c.1667T>A (p.Leu556His)
c.1442T>A (p.Leu481His)
n.2160T>A
n.2174T>A
2g.43875315T>CCA346670529ABCG8c.1658T>C (p.Leu553Pro)
c.1655T>C (p.Leu552Pro)
c.1670T>C (p.Leu557Pro)
c.1667T>C (p.Leu556Pro)
c.1442T>C (p.Leu481Pro)
n.2160T>C
n.2174T>C
2g.43875315T>GCA346670528ABCG8c.1658T>G (p.Leu553Arg)
c.1655T>G (p.Leu552Arg)
c.1670T>G (p.Leu557Arg)
c.1667T>G (p.Leu556Arg)
c.1442T>G (p.Leu481Arg)
n.2160T>G
n.2174T>G
2g.43875316C>ACA426116421ABCG8c.1659C>A (p.Leu553=)
c.1656C>A (p.Leu552=)
c.1671C>A (p.Leu557=)
c.1668C>A (p.Leu556=)
c.1443C>A (p.Leu481=)
n.2161C>A
n.2175C>A
2g.43875316C=CA2493963683ABCG8c.1659C= (p.Leu553=)
c.1656C= (p.Leu552=)
c.1671C= (p.Leu557=)
c.1668C= (p.Leu556=)
c.1443C= (p.Leu481=)
n.2161C=
n.2175C=
2g.43875316C>GCA426116422ABCG8c.1659C>G (p.Leu553=)
c.1656C>G (p.Leu552=)
c.1671C>G (p.Leu557=)
c.1668C>G (p.Leu556=)
c.1443C>G (p.Leu481=)
n.2161C>G
n.2175C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.43875316C>TCA426116423ABCG8c.1659C>T (p.Leu553=)
c.1656C>T (p.Leu552=)
c.1671C>T (p.Leu557=)
c.1668C>T (p.Leu556=)
c.1443C>T (p.Leu481=)
n.2161C>T
n.2175C>T
2g.43875317C>ACA346670530ABCG8c.1660C>A (p.Pro554Thr)
c.1657C>A (p.Pro553Thr)
c.1672C>A (p.Pro558Thr)
c.1669C>A (p.Pro557Thr)
c.1444C>A (p.Pro482Thr)
n.2162C>A
n.2176C>A
2g.43875317C=CA2493963684ABCG8c.1660C= (p.Pro554=)
c.1657C= (p.Pro553=)
c.1672C= (p.Pro558=)
c.1669C= (p.Pro557=)
c.1444C= (p.Pro482=)
n.2162C=
n.2176C=
2g.43875317C>GCA46471310ABCG8c.1660C>G (p.Pro554Ala)
c.1657C>G (p.Pro553Ala)
c.1672C>G (p.Pro558Ala)
c.1669C>G (p.Pro557Ala)
c.1444C>G (p.Pro482Ala)
n.2162C>G
n.2176C>G
 dbSNP
2g.43875317C>TCA346670531ABCG8c.1660C>T (p.Pro554Ser)
c.1657C>T (p.Pro553Ser)
c.1672C>T (p.Pro558Ser)
c.1669C>T (p.Pro557Ser)
c.1444C>T (p.Pro482Ser)
n.2162C>T
n.2176C>T
 gnomAD v4
2g.43875318C>ACA346670532ABCG8c.1661C>A (p.Pro554His)
c.1658C>A (p.Pro553His)
c.1673C>A (p.Pro558His)
c.1670C>A (p.Pro557His)
c.1445C>A (p.Pro482His)
n.2163C>A
n.2177C>A
2g.43875318C=CA2493963685ABCG8c.1661C= (p.Pro554=)
c.1658C= (p.Pro553=)
c.1673C= (p.Pro558=)
c.1670C= (p.Pro557=)
c.1445C= (p.Pro482=)
n.2163C=
n.2177C=
2g.43875318C>GCA346670533ABCG8c.1661C>G (p.Pro554Arg)
c.1658C>G (p.Pro553Arg)
c.1673C>G (p.Pro558Arg)
c.1670C>G (p.Pro557Arg)
c.1445C>G (p.Pro482Arg)
n.2163C>G
n.2177C>G
 dbSNP
2g.43875318C>TCA346670534ABCG8c.1661C>T (p.Pro554Leu)
c.1658C>T (p.Pro553Leu)
c.1673C>T (p.Pro558Leu)
c.1670C>T (p.Pro557Leu)
c.1445C>T (p.Pro482Leu)
n.2163C>T
n.2177C>T
2g.43875319C>ACA426116424ABCG8c.1662C>A (p.Pro554=)
c.1659C>A (p.Pro553=)
c.1674C>A (p.Pro558=)
c.1671C>A (p.Pro557=)
c.1446C>A (p.Pro482=)
n.2164C>A
n.2178C>A
2g.43875319C=CA2493963686ABCG8c.1662C= (p.Pro554=)
c.1659C= (p.Pro553=)
c.1674C= (p.Pro558=)
c.1671C= (p.Pro557=)
c.1446C= (p.Pro482=)
n.2164C=
n.2178C=
2g.43875319C>GCA426116425ABCG8c.1662C>G (p.Pro554=)
c.1659C>G (p.Pro553=)
c.1674C>G (p.Pro558=)
c.1671C>G (p.Pro557=)
c.1446C>G (p.Pro482=)
n.2164C>G
n.2178C>G
2g.43875319C>TCA1637583ABCG8c.1662C>T (p.Pro554=)
c.1659C>T (p.Pro553=)
c.1674C>T (p.Pro558=)
c.1671C>T (p.Pro557=)
c.1446C>T (p.Pro482=)
n.2164C>T
n.2178C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875320A>CCA346670535ABCG8c.1663A>C (p.Thr555Pro)
c.1660A>C (p.Thr554Pro)
c.1675A>C (p.Thr559Pro)
c.1672A>C (p.Thr558Pro)
c.1447A>C (p.Thr483Pro)
n.2165A>C
n.2179A>C
2g.43875320A>GCA346670536ABCG8c.1663A>G (p.Thr555Ala)
c.1660A>G (p.Thr554Ala)
c.1675A>G (p.Thr559Ala)
c.1672A>G (p.Thr558Ala)
c.1447A>G (p.Thr483Ala)
n.2165A>G
n.2179A>G
2g.43875320A>TCA346670537ABCG8c.1663A>T (p.Thr555Ser)
c.1660A>T (p.Thr554Ser)
c.1675A>T (p.Thr559Ser)
c.1672A>T (p.Thr558Ser)
c.1447A>T (p.Thr483Ser)
n.2165A>T
n.2179A>T
2g.43875321C>ACA346670540ABCG8c.1664C>A (p.Thr555Asn)
c.1661C>A (p.Thr554Asn)
c.1676C>A (p.Thr559Asn)
c.1673C>A (p.Thr558Asn)
c.1448C>A (p.Thr483Asn)
n.2166C>A
n.2180C>A
2g.43875321C=CA2493963687ABCG8c.1664C= (p.Thr555=)
c.1661C= (p.Thr554=)
c.1676C= (p.Thr559=)
c.1673C= (p.Thr558=)
c.1448C= (p.Thr483=)
n.2166C=
n.2180C=
2g.43875321C>GCA346670539ABCG8c.1664C>G (p.Thr555Ser)
c.1661C>G (p.Thr554Ser)
c.1676C>G (p.Thr559Ser)
c.1673C>G (p.Thr558Ser)
c.1448C>G (p.Thr483Ser)
n.2166C>G
n.2180C>G
2g.43875321C>TCA346670538ABCG8c.1664C>T (p.Thr555Ile)
c.1661C>T (p.Thr554Ile)
c.1676C>T (p.Thr559Ile)
c.1673C>T (p.Thr558Ile)
c.1448C>T (p.Thr483Ile)
n.2166C>T
n.2180C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43875322C>ACA426116426ABCG8c.1665C>A (p.Thr555=)
c.1662C>A (p.Thr554=)
c.1677C>A (p.Thr559=)
c.1674C>A (p.Thr558=)
c.1449C>A (p.Thr483=)
n.2167C>A
n.2181C>A
2g.43875322C=CA2493963688ABCG8c.1665C= (p.Thr555=)
c.1662C= (p.Thr554=)
c.1677C= (p.Thr559=)
c.1674C= (p.Thr558=)
c.1449C= (p.Thr483=)
n.2167C=
n.2181C=
2g.43875322C>GCA1637584ABCG8c.1665C>G (p.Thr555=)
c.1662C>G (p.Thr554=)
c.1677C>G (p.Thr559=)
c.1674C>G (p.Thr558=)
c.1449C>G (p.Thr483=)
n.2167C>G
n.2181C>G
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.43875322C>TCA426116427ABCG8c.1665C>T (p.Thr555=)
c.1662C>T (p.Thr554=)
c.1677C>T (p.Thr559=)
c.1674C>T (p.Thr558=)
c.1449C>T (p.Thr483=)
n.2167C>T
n.2181C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875323T>ACA346670541ABCG8c.1666T>A (p.Phe556Ile)
c.1663T>A (p.Phe555Ile)
c.1678T>A (p.Phe560Ile)
c.1675T>A (p.Phe559Ile)
c.1450T>A (p.Phe484Ile)
n.2168T>A
n.2182T>A
2g.43875323T>CCA346670542ABCG8c.1666T>C (p.Phe556Leu)
c.1663T>C (p.Phe555Leu)
c.1678T>C (p.Phe560Leu)
c.1675T>C (p.Phe559Leu)
c.1450T>C (p.Phe484Leu)
n.2168T>C
n.2182T>C
2g.43875323T>GCA346670543ABCG8c.1666T>G (p.Phe556Val)
c.1663T>G (p.Phe555Val)
c.1678T>G (p.Phe560Val)
c.1675T>G (p.Phe559Val)
c.1450T>G (p.Phe484Val)
n.2168T>G
n.2182T>G
2g.43875324T>ACA346670544ABCG8c.1667T>A (p.Phe556Tyr)
c.1664T>A (p.Phe555Tyr)
c.1679T>A (p.Phe560Tyr)
c.1676T>A (p.Phe559Tyr)
c.1451T>A (p.Phe484Tyr)
n.2169T>A
n.2183T>A
2g.43875324T>CCA1637585ABCG8c.1667T>C (p.Phe556Ser)
c.1664T>C (p.Phe555Ser)
c.1679T>C (p.Phe560Ser)
c.1676T>C (p.Phe559Ser)
c.1451T>C (p.Phe484Ser)
n.2169T>C
n.2183T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875324T>GCA346670545ABCG8c.1667T>G (p.Phe556Cys)
c.1664T>G (p.Phe555Cys)
c.1679T>G (p.Phe560Cys)
c.1676T>G (p.Phe559Cys)
c.1451T>G (p.Phe484Cys)
n.2169T>G
n.2183T>G
2g.43875324T=CA2493963689ABCG8c.1667T= (p.Phe556=)
c.1664T= (p.Phe555=)
c.1679T= (p.Phe560=)
c.1676T= (p.Phe559=)
c.1451T= (p.Phe484=)
n.2169T=
n.2183T=
2g.43875325C>ACA346670546ABCG8c.1668C>A (p.Phe556Leu)
c.1665C>A (p.Phe555Leu)
c.1680C>A (p.Phe560Leu)
c.1677C>A (p.Phe559Leu)
c.1452C>A (p.Phe484Leu)
n.2170C>A
n.2184C>A
 gnomAD v4
2g.43875325C>GCA346670547ABCG8c.1668C>G (p.Phe556Leu)
c.1665C>G (p.Phe555Leu)
c.1680C>G (p.Phe560Leu)
c.1677C>G (p.Phe559Leu)
c.1452C>G (p.Phe484Leu)
n.2170C>G
n.2184C>G
 gnomAD v4
2g.43875325C>TCA426116428ABCG8c.1668C>T (p.Phe556=)
c.1665C>T (p.Phe555=)
c.1680C>T (p.Phe560=)
c.1677C>T (p.Phe559=)
c.1452C>T (p.Phe484=)
n.2170C>T
n.2184C>T
2g.43875326C>ACA346670548ABCG8c.1669C>A (p.His557Asn)
c.1666C>A (p.His556Asn)
c.1681C>A (p.His561Asn)
c.1678C>A (p.His560Asn)
c.1453C>A (p.His485Asn)
n.2171C>A
n.2185C>A
2g.43875326C=CA2493963690ABCG8c.1669C= (p.His557=)
c.1666C= (p.His556=)
c.1681C= (p.His561=)
c.1678C= (p.His560=)
c.1453C= (p.His485=)
n.2171C=
n.2185C=
2g.43875326C>GCA346670549ABCG8c.1669C>G (p.His557Asp)
c.1666C>G (p.His556Asp)
c.1681C>G (p.His561Asp)
c.1678C>G (p.His560Asp)
c.1453C>G (p.His485Asp)
n.2171C>G
n.2185C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43875326C>TCA346670550ABCG8c.1669C>T (p.His557Tyr)
c.1666C>T (p.His556Tyr)
c.1681C>T (p.His561Tyr)
c.1678C>T (p.His560Tyr)
c.1453C>T (p.His485Tyr)
n.2171C>T
n.2185C>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875327A>CCA346670553ABCG8c.1670A>C (p.His557Pro)
c.1667A>C (p.His556Pro)
c.1682A>C (p.His561Pro)
c.1679A>C (p.His560Pro)
c.1454A>C (p.His485Pro)
n.2172A>C
n.2186A>C
2g.43875327A>GCA346670551ABCG8c.1670A>G (p.His557Arg)
c.1667A>G (p.His556Arg)
c.1682A>G (p.His561Arg)
c.1679A>G (p.His560Arg)
c.1454A>G (p.His485Arg)
n.2172A>G
n.2186A>G
2g.43875327A>TCA346670552ABCG8c.1670A>T (p.His557Leu)
c.1667A>T (p.His556Leu)
c.1682A>T (p.His561Leu)
c.1679A>T (p.His560Leu)
c.1454A>T (p.His485Leu)
n.2172A>T
n.2186A>T
2g.43875328C>ACA346670554ABCG8c.1671C>A (p.His557Gln)
c.1668C>A (p.His556Gln)
c.1683C>A (p.His561Gln)
c.1680C>A (p.His560Gln)
c.1455C>A (p.His485Gln)
n.2173C>A
n.2187C>A
2g.43875328C>GCA346670555ABCG8c.1671C>G (p.His557Gln)
c.1668C>G (p.His556Gln)
c.1683C>G (p.His561Gln)
c.1680C>G (p.His560Gln)
c.1455C>G (p.His485Gln)
n.2173C>G
n.2187C>G
 gnomAD v4
2g.43875328C>TCA426116429ABCG8c.1671C>T (p.His557=)
c.1668C>T (p.His556=)
c.1683C>T (p.His561=)
c.1680C>T (p.His560=)
c.1455C>T (p.His485=)
n.2173C>T
n.2187C>T
 gnomAD v4
2g.43875329A=CA2493963691ABCG8c.1672A= (p.Met558=)
c.1669A= (p.Met557=)
c.1684A= (p.Met562=)
c.1681A= (p.Met561=)
c.1456A= (p.Met486=)
n.2174A=
n.2188A=
2g.43875329A>CCA346670556ABCG8c.1672A>C (p.Met558Leu)
c.1669A>C (p.Met557Leu)
c.1684A>C (p.Met562Leu)
c.1681A>C (p.Met561Leu)
c.1456A>C (p.Met486Leu)
n.2174A>C
n.2188A>C
2g.43875329A>GCA1637586ABCG8c.1672A>G (p.Met558Val)
c.1669A>G (p.Met557Val)
c.1684A>G (p.Met562Val)
c.1681A>G (p.Met561Val)
c.1456A>G (p.Met486Val)
n.2174A>G
n.2188A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875329A>TCA346670557ABCG8c.1672A>T (p.Met558Leu)
c.1669A>T (p.Met557Leu)
c.1684A>T (p.Met562Leu)
c.1681A>T (p.Met561Leu)
c.1456A>T (p.Met486Leu)
n.2174A>T
n.2188A>T
2g.43875330T>ACA1637587ABCG8c.1673T>A (p.Met558Lys)
c.1670T>A (p.Met557Lys)
c.1685T>A (p.Met562Lys)
c.1682T>A (p.Met561Lys)
c.1457T>A (p.Met486Lys)
n.2175T>A
n.2189T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875330T>CCA346670558ABCG8c.1673T>C (p.Met558Thr)
c.1670T>C (p.Met557Thr)
c.1685T>C (p.Met562Thr)
c.1682T>C (p.Met561Thr)
c.1457T>C (p.Met486Thr)
n.2175T>C
n.2189T>C
2g.43875330T>GCA346670559ABCG8c.1673T>G (p.Met558Arg)
c.1670T>G (p.Met557Arg)
c.1685T>G (p.Met562Arg)
c.1682T>G (p.Met561Arg)
c.1457T>G (p.Met486Arg)
n.2175T>G
n.2189T>G
2g.43875330T=CA2493963692ABCG8c.1673T= (p.Met558=)
c.1670T= (p.Met557=)
c.1685T= (p.Met562=)
c.1682T= (p.Met561=)
c.1457T= (p.Met486=)
n.2175T=
n.2189T=
2g.43875331G>ACA346670560ABCG8c.1674G>A (p.Met558Ile)
c.1671G>A (p.Met557Ile)
c.1686G>A (p.Met562Ile)
c.1683G>A (p.Met561Ile)
c.1458G>A (p.Met486Ile)
n.2176G>A
n.2190G>A
2g.43875331G>CCA346670561ABCG8c.1674G>C (p.Met558Ile)
c.1671G>C (p.Met557Ile)
c.1686G>C (p.Met562Ile)
c.1683G>C (p.Met561Ile)
c.1458G>C (p.Met486Ile)
n.2176G>C
n.2190G>C
2g.43875331G>TCA346670562ABCG8c.1674G>T (p.Met558Ile)
c.1671G>T (p.Met557Ile)
c.1686G>T (p.Met562Ile)
c.1683G>T (p.Met561Ile)
c.1458G>T (p.Met486Ile)
n.2176G>T
n.2190G>T
 gnomAD v4
2g.43875332G>ACA346670564ABCG8c.1675G>A (p.Ala559Thr)
c.1672G>A (p.Ala558Thr)
c.1687G>A (p.Ala563Thr)
c.1684G>A (p.Ala562Thr)
c.1459G>A (p.Ala487Thr)
n.2177G>A
n.2191G>A
2g.43875332G>CCA346670563ABCG8c.1675G>C (p.Ala559Pro)
c.1672G>C (p.Ala558Pro)
c.1687G>C (p.Ala563Pro)
c.1684G>C (p.Ala562Pro)
c.1459G>C (p.Ala487Pro)
n.2177G>C
n.2191G>C
 ClinVar
2g.43875332G=CA2493963693ABCG8c.1675G= (p.Ala559=)
c.1672G= (p.Ala558=)
c.1687G= (p.Ala563=)
c.1684G= (p.Ala562=)
c.1459G= (p.Ala487=)
n.2177G=
n.2191G=
2g.43875332G>TCA10615481ABCG8c.1675G>T (p.Ala559Ser)
c.1672G>T (p.Ala558Ser)
c.1687G>T (p.Ala563Ser)
c.1684G>T (p.Ala562Ser)
c.1459G>T (p.Ala487Ser)
n.2177G>T
n.2191G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.43875333C>ACA346670565ABCG8c.1676C>A (p.Ala559Asp)
c.1673C>A (p.Ala558Asp)
c.1688C>A (p.Ala563Asp)
c.1685C>A (p.Ala562Asp)
c.1460C>A (p.Ala487Asp)
n.2178C>A
n.2192C>A
2g.43875333C>GCA346670566ABCG8c.1676C>G (p.Ala559Gly)
c.1673C>G (p.Ala558Gly)
c.1688C>G (p.Ala563Gly)
c.1685C>G (p.Ala562Gly)
c.1460C>G (p.Ala487Gly)
n.2178C>G
n.2192C>G
2g.43875333C>TCA346670567ABCG8c.1676C>T (p.Ala559Val)
c.1673C>T (p.Ala558Val)
c.1688C>T (p.Ala563Val)
c.1685C>T (p.Ala562Val)
c.1460C>T (p.Ala487Val)
n.2178C>T
n.2192C>T
2g.43875334C>ACA426116432ABCG8c.1677C>A (p.Ala559=)
c.1674C>A (p.Ala558=)
c.1689C>A (p.Ala563=)
c.1686C>A (p.Ala562=)
c.1461C>A (p.Ala487=)
n.2179C>A
n.2193C>A
2g.43875334C=CA2493963694ABCG8c.1677C= (p.Ala559=)
c.1674C= (p.Ala558=)
c.1689C= (p.Ala563=)
c.1686C= (p.Ala562=)
c.1461C= (p.Ala487=)
n.2179C=
n.2193C=
2g.43875334C>GCA426116431ABCG8c.1677C>G (p.Ala559=)
c.1674C>G (p.Ala558=)
c.1689C>G (p.Ala563=)
c.1686C>G (p.Ala562=)
c.1461C>G (p.Ala487=)
n.2179C>G
n.2193C>G
 dbSNP gnomAD v4
2g.43875334C>TCA426116430ABCG8c.1677C>T (p.Ala559=)
c.1674C>T (p.Ala558=)
c.1689C>T (p.Ala563=)
c.1686C>T (p.Ala562=)
c.1461C>T (p.Ala487=)
n.2179C>T
n.2193C>T
 gnomAD v4
2g.43875335T>ACA346670568ABCG8c.1678T>A (p.Ser560Thr)
c.1675T>A (p.Ser559Thr)
c.1690T>A (p.Ser564Thr)
c.1687T>A (p.Ser563Thr)
c.1462T>A (p.Ser488Thr)
n.2180T>A
n.2194T>A
2g.43875335T>CCA346670569ABCG8c.1678T>C (p.Ser560Pro)
c.1675T>C (p.Ser559Pro)
c.1690T>C (p.Ser564Pro)
c.1687T>C (p.Ser563Pro)
c.1462T>C (p.Ser488Pro)
n.2180T>C
n.2194T>C
2g.43875335T>GCA346670570ABCG8c.1678T>G (p.Ser560Ala)
c.1675T>G (p.Ser559Ala)
c.1690T>G (p.Ser564Ala)
c.1687T>G (p.Ser563Ala)
c.1462T>G (p.Ser488Ala)
n.2180T>G
n.2194T>G
 ClinVar gnomAD v4
2g.43875335_43875336delinsTCCA2493963695ABCG8c.1678_1679delinsTC (p.Ser560=)
c.1675_1676delinsTC (p.Ser559=)
c.1690_1691delinsTC (p.Ser564=)
c.1687_1688delinsTC (p.Ser563=)
c.1462_1463delinsTC (p.Ser488=)
n.2180_2181delinsTC
n.2194_2195delinsTC
2g.43875336C>ACA346670571ABCG8c.1679C>A (p.Ser560Tyr)
c.1676C>A (p.Ser559Tyr)
c.1691C>A (p.Ser564Tyr)
c.1688C>A (p.Ser563Tyr)
c.1463C>A (p.Ser488Tyr)
n.2181C>A
n.2195C>A
2g.43875336C>GCA346670572ABCG8c.1679C>G (p.Ser560Cys)
c.1676C>G (p.Ser559Cys)
c.1691C>G (p.Ser564Cys)
c.1688C>G (p.Ser563Cys)
c.1463C>G (p.Ser488Cys)
n.2181C>G
n.2195C>G
2g.43875336C>TCA346670573ABCG8c.1679C>T (p.Ser560Phe)
c.1676C>T (p.Ser559Phe)
c.1691C>T (p.Ser564Phe)
c.1688C>T (p.Ser563Phe)
c.1463C>T (p.Ser488Phe)
n.2181C>T
n.2195C>T
 ClinVar
2g.43875337delCA1637588ABCG8c.1680del (p.Phe561SerfsTer17)
c.1677del (p.Phe560SerfsTer17)
c.1692del (p.Phe565SerfsTer17)
c.1689del (p.Phe564SerfsTer17)
c.1464del (p.Phe489SerfsTer17)
n.2182del
n.2196del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875337C>ACA426116433ABCG8c.1680C>A (p.Ser560=)
c.1677C>A (p.Ser559=)
c.1692C>A (p.Ser564=)
c.1689C>A (p.Ser563=)
c.1464C>A (p.Ser488=)
n.2182C>A
n.2196C>A
 dbSNP gnomAD v3 gnomAD v4
2g.43875337C=CA2493963696ABCG8c.1680C= (p.Ser560=)
c.1677C= (p.Ser559=)
c.1692C= (p.Ser564=)
c.1689C= (p.Ser563=)
c.1464C= (p.Ser488=)
n.2182C=
n.2196C=
2g.43875337C>GCA426116434ABCG8c.1680C>G (p.Ser560=)
c.1677C>G (p.Ser559=)
c.1692C>G (p.Ser564=)
c.1689C>G (p.Ser563=)
c.1464C>G (p.Ser488=)
n.2182C>G
n.2196C>G
2g.43875337C>TCA426116435ABCG8c.1680C>T (p.Ser560=)
c.1677C>T (p.Ser559=)
c.1692C>T (p.Ser564=)
c.1689C>T (p.Ser563=)
c.1464C>T (p.Ser488=)
n.2182C>T
n.2196C>T
 dbSNP gnomAD v4
2g.43875341_43875343delCA2658831271ABCG8c.1684_1686del (p.Phe562del)
c.1681_1683del (p.Phe561del)
c.1696_1698del (p.Phe566del)
c.1693_1695del (p.Phe565del)
c.1468_1470del (p.Phe490del)
n.2186_2188del
n.2200_2202del
 gnomAD v4
2g.43875338T>ACA346670574ABCG8c.1681T>A (p.Phe561Ile)
c.1678T>A (p.Phe560Ile)
c.1693T>A (p.Phe565Ile)
c.1690T>A (p.Phe564Ile)
c.1465T>A (p.Phe489Ile)
n.2183T>A
n.2197T>A
2g.43875338T>CCA346670575ABCG8c.1681T>C (p.Phe561Leu)
c.1678T>C (p.Phe560Leu)
c.1693T>C (p.Phe565Leu)
c.1690T>C (p.Phe564Leu)
c.1465T>C (p.Phe489Leu)
n.2183T>C
n.2197T>C
 dbSNP gnomAD v4
2g.43875338T>GCA346670576ABCG8c.1681T>G (p.Phe561Val)
c.1678T>G (p.Phe560Val)
c.1693T>G (p.Phe565Val)
c.1690T>G (p.Phe564Val)
c.1465T>G (p.Phe489Val)
n.2183T>G
n.2197T>G
2g.43875338T=CA2493963697ABCG8c.1681T= (p.Phe561=)
c.1678T= (p.Phe560=)
c.1693T= (p.Phe565=)
c.1690T= (p.Phe564=)
c.1465T= (p.Phe489=)
n.2183T=
n.2197T=
2g.43875339T>ACA346670579ABCG8c.1682T>A (p.Phe561Tyr)
c.1679T>A (p.Phe560Tyr)
c.1694T>A (p.Phe565Tyr)
c.1691T>A (p.Phe564Tyr)
c.1466T>A (p.Phe489Tyr)
n.2184T>A
n.2198T>A
2g.43875339T>CCA346670578ABCG8c.1682T>C (p.Phe561Ser)
c.1679T>C (p.Phe560Ser)
c.1694T>C (p.Phe565Ser)
c.1691T>C (p.Phe564Ser)
c.1466T>C (p.Phe489Ser)
n.2184T>C
n.2198T>C
2g.43875339T>GCA346670577ABCG8c.1682T>G (p.Phe561Cys)
c.1679T>G (p.Phe560Cys)
c.1694T>G (p.Phe565Cys)
c.1691T>G (p.Phe564Cys)
c.1466T>G (p.Phe489Cys)
n.2184T>G
n.2198T>G
2g.43875340C>ACA346670580ABCG8c.1683C>A (p.Phe561Leu)
c.1680C>A (p.Phe560Leu)
c.1695C>A (p.Phe565Leu)
c.1692C>A (p.Phe564Leu)
c.1467C>A (p.Phe489Leu)
n.2185C>A
n.2199C>A
2g.43875340C>GCA346670581ABCG8c.1683C>G (p.Phe561Leu)
c.1680C>G (p.Phe560Leu)
c.1695C>G (p.Phe565Leu)
c.1692C>G (p.Phe564Leu)
c.1467C>G (p.Phe489Leu)
n.2185C>G
n.2199C>G
2g.43875340C>TCA426116436ABCG8c.1683C>T (p.Phe561=)
c.1680C>T (p.Phe560=)
c.1695C>T (p.Phe565=)
c.1692C>T (p.Phe564=)
c.1467C>T (p.Phe489=)
n.2185C>T
n.2199C>T
2g.43875341T>ACA346670582ABCG8c.1684T>A (p.Phe562Ile)
c.1681T>A (p.Phe561Ile)
c.1696T>A (p.Phe566Ile)
c.1693T>A (p.Phe565Ile)
c.1468T>A (p.Phe490Ile)
n.2186T>A
n.2200T>A
2g.43875341T>CCA346670583ABCG8c.1684T>C (p.Phe562Leu)
c.1681T>C (p.Phe561Leu)
c.1696T>C (p.Phe566Leu)
c.1693T>C (p.Phe565Leu)
c.1468T>C (p.Phe490Leu)
n.2186T>C
n.2200T>C
 dbSNP gnomAD v2 gnomAD v4
2g.43875341T>GCA346670584ABCG8c.1684T>G (p.Phe562Val)
c.1681T>G (p.Phe561Val)
c.1696T>G (p.Phe566Val)
c.1693T>G (p.Phe565Val)
c.1468T>G (p.Phe490Val)
n.2186T>G
n.2200T>G
2g.43875341T=CA2493963698ABCG8c.1684T= (p.Phe562=)
c.1681T= (p.Phe561=)
c.1696T= (p.Phe566=)
c.1693T= (p.Phe565=)
c.1468T= (p.Phe490=)
n.2186T=
n.2200T=
2g.43875342T>ACA346670585ABCG8c.1685T>A (p.Phe562Tyr)
c.1682T>A (p.Phe561Tyr)
c.1697T>A (p.Phe566Tyr)
c.1694T>A (p.Phe565Tyr)
c.1469T>A (p.Phe490Tyr)
n.2187T>A
n.2201T>A
2g.43875342T>CCA346670586ABCG8c.1685T>C (p.Phe562Ser)
c.1682T>C (p.Phe561Ser)
c.1697T>C (p.Phe566Ser)
c.1694T>C (p.Phe565Ser)
c.1469T>C (p.Phe490Ser)
n.2187T>C
n.2201T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875342T>GCA346670587ABCG8c.1685T>G (p.Phe562Cys)
c.1682T>G (p.Phe561Cys)
c.1697T>G (p.Phe566Cys)
c.1694T>G (p.Phe565Cys)
c.1469T>G (p.Phe490Cys)
n.2187T>G
n.2201T>G
 gnomAD v4
2g.43875342T=CA2493963699ABCG8c.1685T= (p.Phe562=)
c.1682T= (p.Phe561=)
c.1697T= (p.Phe566=)
c.1694T= (p.Phe565=)
c.1469T= (p.Phe490=)
n.2187T=
n.2201T=
2g.43875343C>ACA346670588ABCG8c.1686C>A (p.Phe562Leu)
c.1683C>A (p.Phe561Leu)
c.1698C>A (p.Phe566Leu)
c.1695C>A (p.Phe565Leu)
c.1470C>A (p.Phe490Leu)
n.2188C>A
n.2202C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875343C=CA2493963700ABCG8c.1686C= (p.Phe562=)
c.1683C= (p.Phe561=)
c.1698C= (p.Phe566=)
c.1695C= (p.Phe565=)
c.1470C= (p.Phe490=)
n.2188C=
n.2202C=
2g.43875343C>GCA346670589ABCG8c.1686C>G (p.Phe562Leu)
c.1683C>G (p.Phe561Leu)
c.1698C>G (p.Phe566Leu)
c.1695C>G (p.Phe565Leu)
c.1470C>G (p.Phe490Leu)
n.2188C>G
n.2202C>G
2g.43875343C>TCA426116437ABCG8c.1686C>T (p.Phe562=)
c.1683C>T (p.Phe561=)
c.1698C>T (p.Phe566=)
c.1695C>T (p.Phe565=)
c.1470C>T (p.Phe490=)
n.2188C>T
n.2202C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875344A>CCA346670590ABCG8c.1687A>C (p.Ser563Arg)
c.1684A>C (p.Ser562Arg)
c.1699A>C (p.Ser567Arg)
c.1696A>C (p.Ser566Arg)
c.1471A>C (p.Ser491Arg)
n.2189A>C
n.2203A>C
2g.43875344A>GCA346670591ABCG8c.1687A>G (p.Ser563Gly)
c.1684A>G (p.Ser562Gly)
c.1699A>G (p.Ser567Gly)
c.1696A>G (p.Ser566Gly)
c.1471A>G (p.Ser491Gly)
n.2189A>G
n.2203A>G
2g.43875344A>TCA346670592ABCG8c.1687A>T (p.Ser563Cys)
c.1684A>T (p.Ser562Cys)
c.1699A>T (p.Ser567Cys)
c.1696A>T (p.Ser566Cys)
c.1471A>T (p.Ser491Cys)
n.2189A>T
n.2203A>T
2g.43875345G>ACA346670594ABCG8c.1688G>A (p.Ser563Asn)
c.1685G>A (p.Ser562Asn)
c.1700G>A (p.Ser567Asn)
c.1697G>A (p.Ser566Asn)
c.1472G>A (p.Ser491Asn)
n.2190G>A
n.2204G>A
 gnomAD v4
2g.43875345G>CCA346670595ABCG8c.1688G>C (p.Ser563Thr)
c.1685G>C (p.Ser562Thr)
c.1700G>C (p.Ser567Thr)
c.1697G>C (p.Ser566Thr)
c.1472G>C (p.Ser491Thr)
n.2190G>C
n.2204G>C
 gnomAD v4
2g.43875345G=CA2493963702ABCG8c.1688G= (p.Ser563=)
c.1685G= (p.Ser562=)
c.1700G= (p.Ser567=)
c.1697G= (p.Ser566=)
c.1472G= (p.Ser491=)
n.2190G=
n.2204G=
2g.43875345G>TCA346670593ABCG8c.1688G>T (p.Ser563Ile)
c.1685G>T (p.Ser562Ile)
c.1700G>T (p.Ser567Ile)
c.1697G>T (p.Ser566Ile)
c.1472G>T (p.Ser491Ile)
n.2190G>T
n.2204G>T
 dbSNP gnomAD v3 gnomAD v4
2g.43875345_43875346delinsGCCA2493963701ABCG8c.1688_1689delinsGC (p.Ser563=)
c.1685_1686delinsGC (p.Ser562=)
c.1700_1701delinsGC (p.Ser567=)
c.1697_1698delinsGC (p.Ser566=)
c.1472_1473delinsGC (p.Ser491=)
n.2190_2191delinsGC
n.2204_2205delinsGC
2g.43875346delCA1637589ABCG8c.1689del (p.Ser563ArgfsTer15)
c.1686del (p.Ser562ArgfsTer15)
c.1701del (p.Ser567ArgfsTer15)
c.1698del (p.Ser566ArgfsTer15)
c.1473del (p.Ser491ArgfsTer15)
n.2191del
n.2205del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875346C>ACA346670596ABCG8c.1689C>A (p.Ser563Arg)
c.1686C>A (p.Ser562Arg)
c.1701C>A (p.Ser567Arg)
c.1698C>A (p.Ser566Arg)
c.1473C>A (p.Ser491Arg)
n.2191C>A
n.2205C>A
2g.43875346C=CA2493963703ABCG8c.1689C= (p.Ser563=)
c.1686C= (p.Ser562=)
c.1701C= (p.Ser567=)
c.1698C= (p.Ser566=)
c.1473C= (p.Ser491=)
n.2191C=
n.2205C=
2g.43875346C>GCA346670597ABCG8c.1689C>G (p.Ser563Arg)
c.1686C>G (p.Ser562Arg)
c.1701C>G (p.Ser567Arg)
c.1698C>G (p.Ser566Arg)
c.1473C>G (p.Ser491Arg)
n.2191C>G
n.2205C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43875346C>TCA426116438ABCG8c.1689C>T (p.Ser563=)
c.1686C>T (p.Ser562=)
c.1701C>T (p.Ser567=)
c.1698C>T (p.Ser566=)
c.1473C>T (p.Ser491=)
n.2191C>T
n.2205C>T
2g.43875347A=CA2493963704ABCG8c.1690A= (p.Asn564=)
c.1687A= (p.Asn563=)
c.1702A= (p.Asn568=)
c.1699A= (p.Asn567=)
c.1474A= (p.Asn492=)
n.2192A=
n.2206A=
2g.43875347A>CCA346670598ABCG8c.1690A>C (p.Asn564His)
c.1687A>C (p.Asn563His)
c.1702A>C (p.Asn568His)
c.1699A>C (p.Asn567His)
c.1474A>C (p.Asn492His)
n.2192A>C
n.2206A>C
2g.43875347A>GCA346670599ABCG8c.1690A>G (p.Asn564Asp)
c.1687A>G (p.Asn563Asp)
c.1702A>G (p.Asn568Asp)
c.1699A>G (p.Asn567Asp)
c.1474A>G (p.Asn492Asp)
n.2192A>G
n.2206A>G
 dbSNP gnomAD v3 gnomAD v4
2g.43875347A>TCA346670600ABCG8c.1690A>T (p.Asn564Tyr)
c.1687A>T (p.Asn563Tyr)
c.1702A>T (p.Asn568Tyr)
c.1699A>T (p.Asn567Tyr)
c.1474A>T (p.Asn492Tyr)
n.2192A>T
n.2206A>T
2g.43875348A=CA2493963705ABCG8c.1691A= (p.Asn564=)
c.1688A= (p.Asn563=)
c.1703A= (p.Asn568=)
c.1700A= (p.Asn567=)
c.1475A= (p.Asn492=)
n.2193A=
n.2207A=
2g.43875348A>CCA1637590ABCG8c.1691A>C (p.Asn564Thr)
c.1688A>C (p.Asn563Thr)
c.1703A>C (p.Asn568Thr)
c.1700A>C (p.Asn567Thr)
c.1475A>C (p.Asn492Thr)
n.2193A>C
n.2207A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875348A>GCA1637591ABCG8c.1691A>G (p.Asn564Ser)
c.1688A>G (p.Asn563Ser)
c.1703A>G (p.Asn568Ser)
c.1700A>G (p.Asn567Ser)
c.1475A>G (p.Asn492Ser)
n.2193A>G
n.2207A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875348A>TCA346670601ABCG8c.1691A>T (p.Asn564Ile)
c.1688A>T (p.Asn563Ile)
c.1703A>T (p.Asn568Ile)
c.1700A>T (p.Asn567Ile)
c.1475A>T (p.Asn492Ile)
n.2193A>T
n.2207A>T
 ClinVar
2g.43875349T>ACA346670602ABCG8c.1692T>A (p.Asn564Lys)
c.1689T>A (p.Asn563Lys)
c.1704T>A (p.Asn568Lys)
c.1701T>A (p.Asn567Lys)
c.1476T>A (p.Asn492Lys)
n.2194T>A
n.2208T>A
2g.43875349T>CCA426116439ABCG8c.1692T>C (p.Asn564=)
c.1689T>C (p.Asn563=)
c.1704T>C (p.Asn568=)
c.1701T>C (p.Asn567=)
c.1476T>C (p.Asn492=)
n.2194T>C
n.2208T>C
 gnomAD v4
2g.43875349T>GCA346670603ABCG8c.1692T>G (p.Asn564Lys)
c.1689T>G (p.Asn563Lys)
c.1704T>G (p.Asn568Lys)
c.1701T>G (p.Asn567Lys)
c.1476T>G (p.Asn492Lys)
n.2194T>G
n.2208T>G
2g.43875350G>ACA346670606ABCG8c.1693G>A (p.Ala565Thr)
c.1690G>A (p.Ala564Thr)
c.1705G>A (p.Ala569Thr)
c.1702G>A (p.Ala568Thr)
c.1477G>A (p.Ala493Thr)
n.2195G>A
n.2209G>A
2g.43875350G>CCA346670605ABCG8c.1693G>C (p.Ala565Pro)
c.1690G>C (p.Ala564Pro)
c.1705G>C (p.Ala569Pro)
c.1702G>C (p.Ala568Pro)
c.1477G>C (p.Ala493Pro)
n.2195G>C
n.2209G>C
2g.43875350G>TCA346670604ABCG8c.1693G>T (p.Ala565Ser)
c.1690G>T (p.Ala564Ser)
c.1705G>T (p.Ala569Ser)
c.1702G>T (p.Ala568Ser)
c.1477G>T (p.Ala493Ser)
n.2195G>T
n.2209G>T
2g.43875351C>ACA46471369ABCG8c.1694C>A (p.Ala565Asp)
c.1691C>A (p.Ala564Asp)
c.1706C>A (p.Ala569Asp)
c.1703C>A (p.Ala568Asp)
c.1478C>A (p.Ala493Asp)
n.2196C>A
n.2210C>A
 dbSNP gnomAD v4
2g.43875351C=CA2493963706ABCG8c.1694C= (p.Ala565=)
c.1691C= (p.Ala564=)
c.1706C= (p.Ala569=)
c.1703C= (p.Ala568=)
c.1478C= (p.Ala493=)
n.2196C=
n.2210C=
2g.43875351C>GCA346670607ABCG8c.1694C>G (p.Ala565Gly)
c.1691C>G (p.Ala564Gly)
c.1706C>G (p.Ala569Gly)
c.1703C>G (p.Ala568Gly)
c.1478C>G (p.Ala493Gly)
n.2196C>G
n.2210C>G
2g.43875351C>TCA346670608ABCG8c.1694C>T (p.Ala565Val)
c.1691C>T (p.Ala564Val)
c.1706C>T (p.Ala569Val)
c.1703C>T (p.Ala568Val)
c.1478C>T (p.Ala493Val)
n.2196C>T
n.2210C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.43875352C>ACA426116440ABCG8c.1695C>A (p.Ala565=)
c.1692C>A (p.Ala564=)
c.1707C>A (p.Ala569=)
c.1704C>A (p.Ala568=)
c.1479C>A (p.Ala493=)
n.2197C>A
n.2211C>A
 dbSNP gnomAD v2
2g.43875352C=CA1630834320ABCG8c.1695C= (p.Ala565=)
c.1692C= (p.Ala564=)
c.1707C= (p.Ala569=)
c.1704C= (p.Ala568=)
c.1479C= (p.Ala493=)
n.2197C=
n.2211C=
2g.43875352C>GCA426116441ABCG8c.1695C>G (p.Ala565=)
c.1692C>G (p.Ala564=)
c.1707C>G (p.Ala569=)
c.1704C>G (p.Ala568=)
c.1479C>G (p.Ala493=)
n.2197C>G
n.2211C>G
2g.43875352C>TCA1637592ABCG8c.1695C>T (p.Ala565=)
c.1692C>T (p.Ala564=)
c.1707C>T (p.Ala569=)
c.1704C>T (p.Ala568=)
c.1479C>T (p.Ala493=)
n.2197C>T
n.2211C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875353C>ACA346670609ABCG8c.1696C>A (p.Leu566Ile)
c.1693C>A (p.Leu565Ile)
c.1708C>A (p.Leu570Ile)
c.1705C>A (p.Leu569Ile)
c.1480C>A (p.Leu494Ile)
n.2198C>A
n.2212C>A
2g.43875353C=CA2493963707ABCG8c.1696C= (p.Leu566=)
c.1693C= (p.Leu565=)
c.1708C= (p.Leu570=)
c.1705C= (p.Leu569=)
c.1480C= (p.Leu494=)
n.2198C=
n.2212C=
2g.43875353C>GCA346670610ABCG8c.1696C>G (p.Leu566Val)
c.1693C>G (p.Leu565Val)
c.1708C>G (p.Leu570Val)
c.1705C>G (p.Leu569Val)
c.1480C>G (p.Leu494Val)
n.2198C>G
n.2212C>G
 dbSNP gnomAD v4
2g.43875353C>TCA346670611ABCG8c.1696C>T (p.Leu566Phe)
c.1693C>T (p.Leu565Phe)
c.1708C>T (p.Leu570Phe)
c.1705C>T (p.Leu569Phe)
c.1480C>T (p.Leu494Phe)
n.2198C>T
n.2212C>T
2g.43875355_43875356delCA2658831285ABCG8c.1698_1699del (p.Tyr567GlnfsTer?)
c.1695_1696del (p.Tyr566GlnfsTer?)
c.1710_1711del (p.Tyr571GlnfsTer?)
c.1707_1708del (p.Tyr570GlnfsTer?)
c.1482_1483del (p.Tyr495GlnfsTer?)
n.2200_2201del
n.2214_2215del
 gnomAD v4
2g.43875354T>ACA346670612ABCG8c.1697T>A (p.Leu566His)
c.1694T>A (p.Leu565His)
c.1709T>A (p.Leu570His)
c.1706T>A (p.Leu569His)
c.1481T>A (p.Leu494His)
n.2199T>A
n.2213T>A
2g.43875354T>CCA346670613ABCG8c.1697T>C (p.Leu566Pro)
c.1694T>C (p.Leu565Pro)
c.1709T>C (p.Leu570Pro)
c.1706T>C (p.Leu569Pro)
c.1481T>C (p.Leu494Pro)
n.2199T>C
n.2213T>C
2g.43875354T>GCA346670614ABCG8c.1697T>G (p.Leu566Arg)
c.1694T>G (p.Leu565Arg)
c.1709T>G (p.Leu570Arg)
c.1706T>G (p.Leu569Arg)
c.1481T>G (p.Leu494Arg)
n.2199T>G
n.2213T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43875354T=CA2493963708ABCG8c.1697T= (p.Leu566=)
c.1694T= (p.Leu565=)
c.1709T= (p.Leu570=)
c.1706T= (p.Leu569=)
c.1481T= (p.Leu494=)
n.2199T=
n.2213T=
2g.43875355C>ACA426116444ABCG8c.1698C>A (p.Leu566=)
c.1695C>A (p.Leu565=)
c.1710C>A (p.Leu570=)
c.1707C>A (p.Leu569=)
c.1482C>A (p.Leu494=)
n.2200C>A
n.2214C>A
2g.43875355C=CA2493963709ABCG8c.1698C= (p.Leu566=)
c.1695C= (p.Leu565=)
c.1710C= (p.Leu570=)
c.1707C= (p.Leu569=)
c.1482C= (p.Leu494=)
n.2200C=
n.2214C=
2g.43875355C>GCA426116443ABCG8c.1698C>G (p.Leu566=)
c.1695C>G (p.Leu565=)
c.1710C>G (p.Leu570=)
c.1707C>G (p.Leu569=)
c.1482C>G (p.Leu494=)
n.2200C>G
n.2214C>G
 ClinVar gnomAD v4
2g.43875355C>TCA426116442ABCG8c.1698C>T (p.Leu566=)
c.1695C>T (p.Leu565=)
c.1710C>T (p.Leu570=)
c.1707C>T (p.Leu569=)
c.1482C>T (p.Leu494=)
n.2200C>T
n.2214C>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875356T>ACA346670615ABCG8c.1699T>A (p.Tyr567Asn)
c.1696T>A (p.Tyr566Asn)
c.1711T>A (p.Tyr571Asn)
c.1708T>A (p.Tyr570Asn)
c.1483T>A (p.Tyr495Asn)
n.2201T>A
n.2215T>A
2g.43875356T>CCA346670616ABCG8c.1699T>C (p.Tyr567His)
c.1696T>C (p.Tyr566His)
c.1711T>C (p.Tyr571His)
c.1708T>C (p.Tyr570His)
c.1483T>C (p.Tyr495His)
n.2201T>C
n.2215T>C
2g.43875356T>GCA346670617ABCG8c.1699T>G (p.Tyr567Asp)
c.1696T>G (p.Tyr566Asp)
c.1711T>G (p.Tyr571Asp)
c.1708T>G (p.Tyr570Asp)
c.1483T>G (p.Tyr495Asp)
n.2201T>G
n.2215T>G
2g.43875357A=CA2493963710ABCG8c.1700A= (p.Tyr567=)
c.1697A= (p.Tyr566=)
c.1712A= (p.Tyr571=)
c.1709A= (p.Tyr570=)
c.1484A= (p.Tyr495=)
n.2202A=
n.2216A=
2g.43875357A>CCA46471394ABCG8c.1700A>C (p.Tyr567Ser)
c.1697A>C (p.Tyr566Ser)
c.1712A>C (p.Tyr571Ser)
c.1709A>C (p.Tyr570Ser)
c.1484A>C (p.Tyr495Ser)
n.2202A>C
n.2216A>C
 ClinVar dbSNP gnomAD v4
2g.43875357A>GCA1637593ABCG8c.1700A>G (p.Tyr567Cys)
c.1697A>G (p.Tyr566Cys)
c.1712A>G (p.Tyr571Cys)
c.1709A>G (p.Tyr570Cys)
c.1484A>G (p.Tyr495Cys)
n.2202A>G
n.2216A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875357A>TCA346670618ABCG8c.1700A>T (p.Tyr567Phe)
c.1697A>T (p.Tyr566Phe)
c.1712A>T (p.Tyr571Phe)
c.1709A>T (p.Tyr570Phe)
c.1484A>T (p.Tyr495Phe)
n.2202A>T
n.2216A>T
2g.43875358C>ACA1637594ABCG8c.1701C>A (p.Tyr567Ter)
c.1698C>A (p.Tyr566Ter)
c.1713C>A (p.Tyr571Ter)
c.1710C>A (p.Tyr570Ter)
c.1485C>A (p.Tyr495Ter)
n.2203C>A
n.2217C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875358C=CA2493963711ABCG8c.1701C= (p.Tyr567=)
c.1698C= (p.Tyr566=)
c.1713C= (p.Tyr571=)
c.1710C= (p.Tyr570=)
c.1485C= (p.Tyr495=)
n.2203C=
n.2217C=
2g.43875358C>GCA346670619ABCG8c.1701C>G (p.Tyr567Ter)
c.1698C>G (p.Tyr566Ter)
c.1713C>G (p.Tyr571Ter)
c.1710C>G (p.Tyr570Ter)
c.1485C>G (p.Tyr495Ter)
n.2203C>G
n.2217C>G
2g.43875358C>TCA426116445ABCG8c.1701C>T (p.Tyr567=)
c.1698C>T (p.Tyr566=)
c.1713C>T (p.Tyr571=)
c.1710C>T (p.Tyr570=)
c.1485C>T (p.Tyr495=)
n.2203C>T
n.2217C>T
2g.43875359A>CCA346670620ABCG8c.1702A>C (p.Asn568His)
c.1699A>C (p.Asn567His)
c.1714A>C (p.Asn572His)
c.1711A>C (p.Asn571His)
c.1486A>C (p.Asn496His)
n.2204A>C
n.2218A>C
 gnomAD v4
2g.43875359A>GCA346670621ABCG8c.1702A>G (p.Asn568Asp)
c.1699A>G (p.Asn567Asp)
c.1714A>G (p.Asn572Asp)
c.1711A>G (p.Asn571Asp)
c.1486A>G (p.Asn496Asp)
n.2204A>G
n.2218A>G
 gnomAD v4
2g.43875359A>TCA346670622ABCG8c.1702A>T (p.Asn568Tyr)
c.1699A>T (p.Asn567Tyr)
c.1714A>T (p.Asn572Tyr)
c.1711A>T (p.Asn571Tyr)
c.1486A>T (p.Asn496Tyr)
n.2204A>T
n.2218A>T
2g.43875360A=CA2493963713ABCG8c.1703A= (p.Asn568=)
c.1700A= (p.Asn567=)
c.1715A= (p.Asn572=)
c.1712A= (p.Asn571=)
c.1487A= (p.Asn496=)
n.2205A=
n.2219A=
2g.43875360A>CCA346670623ABCG8c.1703A>C (p.Asn568Thr)
c.1700A>C (p.Asn567Thr)
c.1715A>C (p.Asn572Thr)
c.1712A>C (p.Asn571Thr)
c.1487A>C (p.Asn496Thr)
n.2205A>C
n.2219A>C
 ClinVar dbSNP
2g.43875360A>GCA1637595ABCG8c.1703A>G (p.Asn568Ser)
c.1700A>G (p.Asn567Ser)
c.1715A>G (p.Asn572Ser)
c.1712A>G (p.Asn571Ser)
c.1487A>G (p.Asn496Ser)
n.2205A>G
n.2219A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875360A>TCA346670624ABCG8c.1703A>T (p.Asn568Ile)
c.1700A>T (p.Asn567Ile)
c.1715A>T (p.Asn572Ile)
c.1712A>T (p.Asn571Ile)
c.1487A>T (p.Asn496Ile)
n.2205A>T
n.2219A>T
2g.43875360_43875363delinsACTCCA2493963712ABCG8c.1703_1706delinsACTC (p.Asn568=)
c.1700_1703delinsACTC (p.Asn567=)
c.1715_1718delinsACTC (p.Asn572=)
c.1712_1715delinsACTC (p.Asn571=)
c.1487_1490delinsACTC (p.Asn496=)
n.2205_2208delinsACTC
n.2219_2222delinsACTC
2g.43875361C>ACA346670625ABCG8c.1704C>A (p.Asn568Lys)
c.1701C>A (p.Asn567Lys)
c.1716C>A (p.Asn572Lys)
c.1713C>A (p.Asn571Lys)
c.1488C>A (p.Asn496Lys)
n.2206C>A
n.2220C>A
2g.43875361C=CA2493963715ABCG8c.1704C= (p.Asn568=)
c.1701C= (p.Asn567=)
c.1716C= (p.Asn572=)
c.1713C= (p.Asn571=)
c.1488C= (p.Asn496=)
n.2206C=
n.2220C=
2g.43875361C>GCA346670626ABCG8c.1704C>G (p.Asn568Lys)
c.1701C>G (p.Asn567Lys)
c.1716C>G (p.Asn572Lys)
c.1713C>G (p.Asn571Lys)
c.1488C>G (p.Asn496Lys)
n.2206C>G
n.2220C>G
2g.43875361C>TCA426116446ABCG8c.1704C>T (p.Asn568=)
c.1701C>T (p.Asn567=)
c.1716C>T (p.Asn572=)
c.1713C>T (p.Asn571=)
c.1488C>T (p.Asn496=)
n.2206C>T
n.2220C>T
 dbSNP
2g.43875361_43875362delinsCTCA2493963714ABCG8c.1704_1705delinsCT (p.Asn568=)
c.1701_1702delinsCT (p.Asn567=)
c.1716_1717delinsCT (p.Asn572=)
c.1713_1714delinsCT (p.Asn571=)
c.1488_1489delinsCT (p.Asn496=)
n.2206_2207delinsCT
n.2220_2221delinsCT
2g.43875363_43875365delCA1637596ABCG8c.1706_1708del (p.Ser569del)
c.1703_1705del (p.Ser568del)
c.1718_1720del (p.Ser573del)
c.1715_1717del (p.Ser572del)
c.1490_1492del (p.Ser497del)
n.2208_2210del
n.2222_2224del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875362delCA1637597ABCG8c.1705del (p.Ser569ProfsTer9)
c.1702del (p.Ser568ProfsTer9)
c.1717del (p.Ser573ProfsTer9)
c.1714del (p.Ser572ProfsTer9)
c.1489del (p.Ser497ProfsTer9)
n.2207del
n.2221del
 dbSNP ExAC gnomAD v2
2g.43875362T>ACA346670627ABCG8c.1705T>A (p.Ser569Thr)
c.1702T>A (p.Ser568Thr)
c.1717T>A (p.Ser573Thr)
c.1714T>A (p.Ser572Thr)
c.1489T>A (p.Ser497Thr)
n.2207T>A
n.2221T>A
2g.43875362T>CCA1637598ABCG8c.1705T>C (p.Ser569Pro)
c.1702T>C (p.Ser568Pro)
c.1717T>C (p.Ser573Pro)
c.1714T>C (p.Ser572Pro)
c.1489T>C (p.Ser497Pro)
n.2207T>C
n.2221T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875362T>GCA346670628ABCG8c.1705T>G (p.Ser569Ala)
c.1702T>G (p.Ser568Ala)
c.1717T>G (p.Ser573Ala)
c.1714T>G (p.Ser572Ala)
c.1489T>G (p.Ser497Ala)
n.2207T>G
n.2221T>G
2g.43875362T=CA2493963716ABCG8c.1705T= (p.Ser569=)
c.1702T= (p.Ser568=)
c.1717T= (p.Ser573=)
c.1714T= (p.Ser572=)
c.1489T= (p.Ser497=)
n.2207T=
n.2221T=
2g.43875363C>ACA346670631ABCG8c.1706C>A (p.Ser569Tyr)
c.1703C>A (p.Ser568Tyr)
c.1718C>A (p.Ser573Tyr)
c.1715C>A (p.Ser572Tyr)
c.1490C>A (p.Ser497Tyr)
n.2208C>A
n.2222C>A
2g.43875363C>GCA346670629ABCG8c.1706C>G (p.Ser569Cys)
c.1703C>G (p.Ser568Cys)
c.1718C>G (p.Ser573Cys)
c.1715C>G (p.Ser572Cys)
c.1490C>G (p.Ser497Cys)
n.2208C>G
n.2222C>G
2g.43875363C>TCA346670630ABCG8c.1706C>T (p.Ser569Phe)
c.1703C>T (p.Ser568Phe)
c.1718C>T (p.Ser573Phe)
c.1715C>T (p.Ser572Phe)
c.1490C>T (p.Ser497Phe)
n.2208C>T
n.2222C>T
2g.43875363_43875366delinsCCTTCA2493963717ABCG8c.1706_1709delinsCCTT (p.Ser569=)
c.1703_1706delinsCCTT (p.Ser568=)
c.1718_1721delinsCCTT (p.Ser573=)
c.1715_1718delinsCCTT (p.Ser572=)
c.1490_1493delinsCCTT (p.Ser497=)
n.2208_2211delinsCCTT
n.2222_2225delinsCCTT
2g.43875364C>ACA426116450ABCG8c.1707C>A (p.Ser569=)
c.1704C>A (p.Ser568=)
c.1719C>A (p.Ser573=)
c.1716C>A (p.Ser572=)
c.1491C>A (p.Ser497=)
n.2209C>A
n.2223C>A
 gnomAD v4
2g.43875364C=CA2493963718ABCG8c.1707C= (p.Ser569=)
c.1704C= (p.Ser568=)
c.1719C= (p.Ser573=)
c.1716C= (p.Ser572=)
c.1491C= (p.Ser497=)
n.2209C=
n.2223C=
2g.43875364C>GCA426116449ABCG8c.1707C>G (p.Ser569=)
c.1704C>G (p.Ser568=)
c.1719C>G (p.Ser573=)
c.1716C>G (p.Ser572=)
c.1491C>G (p.Ser497=)
n.2209C>G
n.2223C>G
2g.43875364C>TCA426116448ABCG8c.1707C>T (p.Ser569=)
c.1704C>T (p.Ser568=)
c.1719C>T (p.Ser573=)
c.1716C>T (p.Ser572=)
c.1491C>T (p.Ser497=)
n.2209C>T
n.2223C>T
 dbSNP gnomAD v4
2g.43875366_43875368delCA1637599ABCG8c.1709_1711del (p.Phe570del)
c.1706_1708del (p.Phe569del)
c.1721_1723del (p.Phe574del)
c.1718_1720del (p.Phe573del)
c.1493_1495del (p.Phe498del)
n.2211_2213del
n.2225_2227del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.43875365T>ACA346670632ABCG8c.1708T>A (p.Phe570Ile)
c.1705T>A (p.Phe569Ile)
c.1720T>A (p.Phe574Ile)
c.1717T>A (p.Phe573Ile)
c.1492T>A (p.Phe498Ile)
n.2210T>A
n.2224T>A
2g.43875365T>CCA346670633ABCG8c.1708T>C (p.Phe570Leu)
c.1705T>C (p.Phe569Leu)
c.1720T>C (p.Phe574Leu)
c.1717T>C (p.Phe573Leu)
c.1492T>C (p.Phe498Leu)
n.2210T>C
n.2224T>C
2g.43875365T>GCA346670634ABCG8c.1708T>G (p.Phe570Val)
c.1705T>G (p.Phe569Val)
c.1720T>G (p.Phe574Val)
c.1717T>G (p.Phe573Val)
c.1492T>G (p.Phe498Val)
n.2210T>G
n.2224T>G
2g.43875366T>ACA346670635ABCG8c.1709T>A (p.Phe570Tyr)
c.1706T>A (p.Phe569Tyr)
c.1721T>A (p.Phe574Tyr)
c.1718T>A (p.Phe573Tyr)
c.1493T>A (p.Phe498Tyr)
n.2211T>A
n.2225T>A
2g.43875366T>CCA346670636ABCG8c.1709T>C (p.Phe570Ser)
c.1706T>C (p.Phe569Ser)
c.1721T>C (p.Phe574Ser)
c.1718T>C (p.Phe573Ser)
c.1493T>C (p.Phe498Ser)
n.2211T>C
n.2225T>C
2g.43875366T>GCA346670637ABCG8c.1709T>G (p.Phe570Cys)
c.1706T>G (p.Phe569Cys)
c.1721T>G (p.Phe574Cys)
c.1718T>G (p.Phe573Cys)
c.1493T>G (p.Phe498Cys)
n.2211T>G
n.2225T>G
 gnomAD v4
2g.43875367C>ACA346670638ABCG8c.1710C>A (p.Phe570Leu)
c.1707C>A (p.Phe569Leu)
c.1722C>A (p.Phe574Leu)
c.1719C>A (p.Phe573Leu)
c.1494C>A (p.Phe498Leu)
n.2212C>A
n.2226C>A
2g.43875367C=CA2493963719ABCG8c.1710C= (p.Phe570=)
c.1707C= (p.Phe569=)
c.1722C= (p.Phe574=)
c.1719C= (p.Phe573=)
c.1494C= (p.Phe498=)
n.2212C=
n.2226C=
2g.43875367C>GCA346670639ABCG8c.1710C>G (p.Phe570Leu)
c.1707C>G (p.Phe569Leu)
c.1722C>G (p.Phe574Leu)
c.1719C>G (p.Phe573Leu)
c.1494C>G (p.Phe498Leu)
n.2212C>G
n.2226C>G
 dbSNP gnomAD v2 gnomAD v4
2g.43875367C>TCA426116451ABCG8c.1710C>T (p.Phe570=)
c.1707C>T (p.Phe569=)
c.1722C>T (p.Phe574=)
c.1719C>T (p.Phe573=)
c.1494C>T (p.Phe498=)
n.2212C>T
n.2226C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875368T>ACA346670640ABCG8c.1711T>A (p.Tyr571Asn)
c.1708T>A (p.Tyr570Asn)
c.1723T>A (p.Tyr575Asn)
c.1720T>A (p.Tyr574Asn)
c.1495T>A (p.Tyr499Asn)
n.2213T>A
n.2227T>A
2g.43875368T>CCA346670641ABCG8c.1711T>C (p.Tyr571His)
c.1708T>C (p.Tyr570His)
c.1723T>C (p.Tyr575His)
c.1720T>C (p.Tyr574His)
c.1495T>C (p.Tyr499His)
n.2213T>C
n.2227T>C
2g.43875368T>GCA346670642ABCG8c.1711T>G (p.Tyr571Asp)
c.1708T>G (p.Tyr570Asp)
c.1723T>G (p.Tyr575Asp)
c.1720T>G (p.Tyr574Asp)
c.1495T>G (p.Tyr499Asp)
n.2213T>G
n.2227T>G
2g.43875369A=CA2493963720ABCG8c.1712A= (p.Tyr571=)
c.1709A= (p.Tyr570=)
c.1724A= (p.Tyr575=)
c.1721A= (p.Tyr574=)
c.1496A= (p.Tyr499=)
n.2214A=
n.2228A=
2g.43875369A>CCA346670643ABCG8c.1712A>C (p.Tyr571Ser)
c.1709A>C (p.Tyr570Ser)
c.1724A>C (p.Tyr575Ser)
c.1721A>C (p.Tyr574Ser)
c.1496A>C (p.Tyr499Ser)
n.2214A>C
n.2228A>C
 dbSNP
2g.43875369A>GCA346670645ABCG8c.1712A>G (p.Tyr571Cys)
c.1709A>G (p.Tyr570Cys)
c.1724A>G (p.Tyr575Cys)
c.1721A>G (p.Tyr574Cys)
c.1496A>G (p.Tyr499Cys)
n.2214A>G
n.2228A>G
2g.43875369A>TCA346670644ABCG8c.1712A>T (p.Tyr571Phe)
c.1709A>T (p.Tyr570Phe)
c.1724A>T (p.Tyr575Phe)
c.1721A>T (p.Tyr574Phe)
c.1496A>T (p.Tyr499Phe)
n.2214A>T
n.2228A>T
2g.43875370C>ACA346670646ABCG8c.1713C>A (p.Tyr571Ter)
c.1710C>A (p.Tyr570Ter)
c.1725C>A (p.Tyr575Ter)
c.1722C>A (p.Tyr574Ter)
c.1497C>A (p.Tyr499Ter)
n.2215C>A
n.2229C>A
2g.43875370C=CA2493963721ABCG8c.1713C= (p.Tyr571=)
c.1710C= (p.Tyr570=)
c.1725C= (p.Tyr575=)
c.1722C= (p.Tyr574=)
c.1497C= (p.Tyr499=)
n.2215C=
n.2229C=
2g.43875370C>GCA346670647ABCG8c.1713C>G (p.Tyr571Ter)
c.1710C>G (p.Tyr570Ter)
c.1725C>G (p.Tyr575Ter)
c.1722C>G (p.Tyr574Ter)
c.1497C>G (p.Tyr499Ter)
n.2215C>G
n.2229C>G
2g.43875370C>TCA1637600ABCG8c.1713C>T (p.Tyr571=)
c.1710C>T (p.Tyr570=)
c.1725C>T (p.Tyr575=)
c.1722C>T (p.Tyr574=)
c.1497C>T (p.Tyr499=)
n.2215C>T
n.2229C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875371C>ACA346670648ABCG8c.1714C>A (p.Leu572Ile)
c.1711C>A (p.Leu571Ile)
c.1726C>A (p.Leu576Ile)
c.1723C>A (p.Leu575Ile)
c.1498C>A (p.Leu500Ile)
n.2216C>A
n.2230C>A
2g.43875371C>GCA346670649ABCG8c.1714C>G (p.Leu572Val)
c.1711C>G (p.Leu571Val)
c.1726C>G (p.Leu576Val)
c.1723C>G (p.Leu575Val)
c.1498C>G (p.Leu500Val)
n.2216C>G
n.2230C>G
2g.43875371C>TCA346670650ABCG8c.1714C>T (p.Leu572Phe)
c.1711C>T (p.Leu571Phe)
c.1726C>T (p.Leu576Phe)
c.1723C>T (p.Leu575Phe)
c.1498C>T (p.Leu500Phe)
n.2216C>T
n.2230C>T
2g.43875372T>ACA346670651ABCG8c.1715T>A (p.Leu572His)
c.1712T>A (p.Leu571His)
c.1727T>A (p.Leu576His)
c.1724T>A (p.Leu575His)
c.1499T>A (p.Leu500His)
n.2217T>A
n.2231T>A
2g.43875372T>CCA1637601ABCG8c.1715T>C (p.Leu572Pro)
c.1712T>C (p.Leu571Pro)
c.1727T>C (p.Leu576Pro)
c.1724T>C (p.Leu575Pro)
c.1499T>C (p.Leu500Pro)
n.2217T>C
n.2231T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875372T>GCA346670652ABCG8c.1715T>G (p.Leu572Arg)
c.1712T>G (p.Leu571Arg)
c.1727T>G (p.Leu576Arg)
c.1724T>G (p.Leu575Arg)
c.1499T>G (p.Leu500Arg)
n.2217T>G
n.2231T>G
2g.43875372T=CA2493963722ABCG8c.1715T= (p.Leu572=)
c.1712T= (p.Leu571=)
c.1727T= (p.Leu576=)
c.1724T= (p.Leu575=)
c.1499T= (p.Leu500=)
n.2217T=
n.2231T=
2g.43875373C>ACA426116453ABCG8c.1716C>A (p.Leu572=)
c.1713C>A (p.Leu571=)
c.1728C>A (p.Leu576=)
c.1725C>A (p.Leu575=)
c.1500C>A (p.Leu500=)
n.2218C>A
n.2232C>A
 gnomAD v4
2g.43875373C=CA2493963723ABCG8c.1716C= (p.Leu572=)
c.1713C= (p.Leu571=)
c.1728C= (p.Leu576=)
c.1725C= (p.Leu575=)
c.1500C= (p.Leu500=)
n.2218C=
n.2232C=
2g.43875373C>GCA426116454ABCG8c.1716C>G (p.Leu572=)
c.1713C>G (p.Leu571=)
c.1728C>G (p.Leu576=)
c.1725C>G (p.Leu575=)
c.1500C>G (p.Leu500=)
n.2218C>G
n.2232C>G
2g.43875373C>TCA1637602ABCG8c.1716C>T (p.Leu572=)
c.1713C>T (p.Leu571=)
c.1728C>T (p.Leu576=)
c.1725C>T (p.Leu575=)
c.1500C>T (p.Leu500=)
n.2218C>T
n.2232C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875374G>ACA1637603ABCG8c.1717G>A (p.Ala573Thr)
c.1714G>A (p.Ala572Thr)
c.1729G>A (p.Ala577Thr)
c.1726G>A (p.Ala576Thr)
c.1501G>A (p.Ala501Thr)
n.2219G>A
n.2233G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875374G>CCA346670653ABCG8c.1717G>C (p.Ala573Pro)
c.1714G>C (p.Ala572Pro)
c.1729G>C (p.Ala577Pro)
c.1726G>C (p.Ala576Pro)
c.1501G>C (p.Ala501Pro)
n.2219G>C
n.2233G>C
2g.43875374G=CA2493963724ABCG8c.1717G= (p.Ala573=)
c.1714G= (p.Ala572=)
c.1729G= (p.Ala577=)
c.1726G= (p.Ala576=)
c.1501G= (p.Ala501=)
n.2219G=
n.2233G=
2g.43875374G>TCA346670654ABCG8c.1717G>T (p.Ala573Ser)
c.1714G>T (p.Ala572Ser)
c.1729G>T (p.Ala577Ser)
c.1726G>T (p.Ala576Ser)
c.1501G>T (p.Ala501Ser)
n.2219G>T
n.2233G>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875375C>ACA346670655ABCG8c.1718C>A (p.Ala573Asp)
c.1715C>A (p.Ala572Asp)
c.1730C>A (p.Ala577Asp)
c.1727C>A (p.Ala576Asp)
c.1502C>A (p.Ala501Asp)
n.2220C>A
n.2234C>A
2g.43875375C=CA2493963725ABCG8c.1718C= (p.Ala573=)
c.1715C= (p.Ala572=)
c.1730C= (p.Ala577=)
c.1727C= (p.Ala576=)
c.1502C= (p.Ala501=)
n.2220C=
n.2234C=
2g.43875375C>GCA346670657ABCG8c.1718C>G (p.Ala573Gly)
c.1715C>G (p.Ala572Gly)
c.1730C>G (p.Ala577Gly)
c.1727C>G (p.Ala576Gly)
c.1502C>G (p.Ala501Gly)
n.2220C>G
n.2234C>G
2g.43875375C>TCA346670656ABCG8c.1718C>T (p.Ala573Val)
c.1715C>T (p.Ala572Val)
c.1730C>T (p.Ala577Val)
c.1727C>T (p.Ala576Val)
c.1502C>T (p.Ala501Val)
n.2220C>T
n.2234C>T
 dbSNP gnomAD v4
2g.43875376C>ACA46471475ABCG8c.1719C>A (p.Ala573=)
c.1716C>A (p.Ala572=)
c.1731C>A (p.Ala577=)
c.1728C>A (p.Ala576=)
c.1503C>A (p.Ala501=)
n.2221C>A
n.2235C>A
 dbSNP gnomAD v3 gnomAD v4
2g.43875376C=CA2493963726ABCG8c.1719C= (p.Ala573=)
c.1716C= (p.Ala572=)
c.1731C= (p.Ala577=)
c.1728C= (p.Ala576=)
c.1503C= (p.Ala501=)
n.2221C=
n.2235C=
2g.43875376C>GCA426116455ABCG8c.1719C>G (p.Ala573=)
c.1716C>G (p.Ala572=)
c.1731C>G (p.Ala577=)
c.1728C>G (p.Ala576=)
c.1503C>G (p.Ala501=)
n.2221C>G
n.2235C>G
2g.43875376C>TCA1637604ABCG8c.1719C>T (p.Ala573=)
c.1716C>T (p.Ala572=)
c.1731C>T (p.Ala577=)
c.1728C>T (p.Ala576=)
c.1503C>T (p.Ala501=)
n.2221C>T
n.2235C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875376_43875377delinsCGCA2493963727ABCG8c.1719_1720delinsCG (p.Ala573=)
c.1716_1717delinsCG (p.Ala572=)
c.1731_1732delinsCG (p.Ala577=)
c.1728_1729delinsCG (p.Ala576=)
c.1503_1504delinsCG (p.Ala501=)
n.2221_2222delinsCG
n.2235_2236delinsCG
2g.43875377G>ACA253361ABCG8c.1720G>A (p.Gly574Arg)
c.1717G>A (p.Gly573Arg)
c.1732G>A (p.Gly578Arg)
c.1729G>A (p.Gly577Arg)
c.1504G>A (p.Gly502Arg)
n.2222G>A
n.2236G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875377G>CCA346670658ABCG8c.1720G>C (p.Gly574Arg)
c.1717G>C (p.Gly573Arg)
c.1732G>C (p.Gly578Arg)
c.1729G>C (p.Gly577Arg)
c.1504G>C (p.Gly502Arg)
n.2222G>C
n.2236G>C
2g.43875377G=CA2493963728ABCG8c.1720G= (p.Gly574=)
c.1717G= (p.Gly573=)
c.1732G= (p.Gly578=)
c.1729G= (p.Gly577=)
c.1504G= (p.Gly502=)
n.2222G=
n.2236G=
2g.43875377G>TCA346670659ABCG8c.1720G>T (p.Gly574Trp)
c.1717G>T (p.Gly573Trp)
c.1732G>T (p.Gly578Trp)
c.1729G>T (p.Gly577Trp)
c.1504G>T (p.Gly502Trp)
n.2222G>T
n.2236G>T
 gnomAD v4
2g.43875381delCA1637605ABCG8c.1724del (p.Gly575AlafsTer3)
c.1721del (p.Gly574AlafsTer3)
c.1736del (p.Gly579AlafsTer3)
c.1733del (p.Gly578AlafsTer3)
c.1508del (p.Gly503AlafsTer3)
n.2226del
n.2240del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875378G>ACA346670660ABCG8c.1721G>A (p.Gly574Glu)
c.1718G>A (p.Gly573Glu)
c.1733G>A (p.Gly578Glu)
c.1730G>A (p.Gly577Glu)
c.1505G>A (p.Gly502Glu)
n.2223G>A
n.2237G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.43875378G>CCA346670661ABCG8c.1721G>C (p.Gly574Ala)
c.1718G>C (p.Gly573Ala)
c.1733G>C (p.Gly578Ala)
c.1730G>C (p.Gly577Ala)
c.1505G>C (p.Gly502Ala)
n.2223G>C
n.2237G>C
2g.43875378G=CA2493963729ABCG8c.1721G= (p.Gly574=)
c.1718G= (p.Gly573=)
c.1733G= (p.Gly578=)
c.1730G= (p.Gly577=)
c.1505G= (p.Gly502=)
n.2223G=
n.2237G=
2g.43875378G>TCA346670662ABCG8c.1721G>T (p.Gly574Val)
c.1718G>T (p.Gly573Val)
c.1733G>T (p.Gly578Val)
c.1730G>T (p.Gly577Val)
c.1505G>T (p.Gly502Val)
n.2223G>T
n.2237G>T

Number of alleles fetched