Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219212413G>ACA129258ABCB6,ATG9Ac.1942C>T (p.Arg648Ter)
c.1804C>T (p.Arg602Ter)
c.1485C>T
c.4667C>T
n.492C>T
n.2255C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219212413G>CCA350628648ABCB6,ATG9Ac.1942C>G (p.Arg648Gly)
c.1804C>G (p.Arg602Gly)
c.1485C>G
c.4667C>G
n.492C>G
n.2255C>G
2g.219212413G=CA1329113169ABCB6,ATG9Ac.1942C= (p.Arg648=)
c.1804C= (p.Arg602=)
c.1485C=
c.4667C=
n.492C=
n.2255C=
2g.219212413G>TCA431263674ABCB6,ATG9Ac.1942C>A (p.Arg648=)
c.1804C>A (p.Arg602=)
c.1485C>A
c.4667C>A
n.492C>A
n.2255C>A
2g.219212414G>ACA431263679ABCB6,ATG9Ac.1941C>T (p.Ile647=)
c.1803C>T (p.Ile601=)
c.1484C>T
c.4666C>T
n.491C>T
n.2254C>T
2g.219212414G>CCA350628649ABCB6,ATG9Ac.1941C>G (p.Ile647Met)
c.1803C>G (p.Ile601Met)
c.1484C>G
c.4666C>G
n.491C>G
n.2254C>G
 gnomAD v4
2g.219212414G>TCA431263685ABCB6,ATG9Ac.1941C>A (p.Ile647=)
c.1803C>A (p.Ile601=)
c.1484C>A
c.4666C>A
n.491C>A
n.2254C>A
2g.219212415A>CCA350628650ABCB6,ATG9Ac.1940T>G (p.Ile647Ser)
c.1802T>G (p.Ile601Ser)
c.1483T>G
c.4665T>G
n.490T>G
n.2253T>G
2g.219212415A>GCA350628651ABCB6,ATG9Ac.1940T>C (p.Ile647Thr)
c.1802T>C (p.Ile601Thr)
c.1483T>C
c.4665T>C
n.490T>C
n.2253T>C
2g.219212415A>TCA350628652ABCB6,ATG9Ac.1940T>A (p.Ile647Asn)
c.1802T>A (p.Ile601Asn)
c.1483T>A
c.4665T>A
n.490T>A
n.2253T>A
2g.219212415_219212416delCA2663212463ABCB6,ATG9Ac.1939_1940del (p.Ile647ProfsTer30)
c.1801_1802del (p.Ile601ProfsTer30)
c.1482_1483del
c.4664_4665del
n.489_490del
n.2252_2253del
 gnomAD v4
2g.219212416T>ACA350628653ABCB6,ATG9Ac.1939A>T (p.Ile647Phe)
c.1801A>T (p.Ile601Phe)
c.1482A>T
c.4664A>T
n.489A>T
n.2252A>T
2g.219212416T>CCA350628655ABCB6,ATG9Ac.1939A>G (p.Ile647Val)
c.1801A>G (p.Ile601Val)
c.1482A>G
c.4664A>G
n.489A>G
n.2252A>G
2g.219212416T>GCA350628654ABCB6,ATG9Ac.1939A>C (p.Ile647Leu)
c.1801A>C (p.Ile601Leu)
c.1482A>C
c.4664A>C
n.489A>C
n.2252A>C
2g.219212417G>ACA2119140ABCB6,ATG9Ac.1938C>T (p.Cys646=)
c.1800C>T (p.Cys600=)
c.1481C>T
c.4663C>T
n.488C>T
n.2251C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219212417G>CCA350628656ABCB6,ATG9Ac.1938C>G (p.Cys646Trp)
c.1800C>G (p.Cys600Trp)
c.1481C>G
c.4663C>G
n.488C>G
n.2251C>G
 gnomAD v4
2g.219212417G=CA1329113175ABCB6,ATG9Ac.1938C= (p.Cys646=)
c.1800C= (p.Cys600=)
c.1481C=
c.4663C=
n.488C=
n.2251C=
2g.219212417G>TCA350628657ABCB6,ATG9Ac.1938C>A (p.Cys646Ter)
c.1800C>A (p.Cys600Ter)
c.1481C>A
c.4663C>A
n.488C>A
n.2251C>A
2g.219212418C>ACA350628658ABCB6,ATG9Ac.1937G>T (p.Cys646Phe)
c.1799G>T (p.Cys600Phe)
c.1480G>T
c.4662G>T
n.487G>T
n.2250G>T
2g.219212418C>GCA350628659ABCB6,ATG9Ac.1937G>C (p.Cys646Ser)
c.1799G>C (p.Cys600Ser)
c.1480G>C
c.4662G>C
n.487G>C
n.2250G>C
2g.219212418C>TCA350628660ABCB6,ATG9Ac.1937G>A (p.Cys646Tyr)
c.1799G>A (p.Cys600Tyr)
c.1480G>A
c.4662G>A
n.487G>A
n.2250G>A
2g.219212419A>CCA350628661ABCB6,ATG9Ac.1936T>G (p.Cys646Gly)
c.1798T>G (p.Cys600Gly)
c.1479T>G
c.4661T>G
n.486T>G
n.2249T>G
2g.219212419A>GCA350628662ABCB6,ATG9Ac.1936T>C (p.Cys646Arg)
c.1798T>C (p.Cys600Arg)
c.1479T>C
c.4661T>C
n.486T>C
n.2249T>C
2g.219212419A>TCA350628663ABCB6,ATG9Ac.1936T>A (p.Cys646Ser)
c.1798T>A (p.Cys600Ser)
c.1479T>A
c.4661T>A
n.486T>A
n.2249T>A
2g.219212420G>ACA431263751ABCB6,ATG9Ac.1935C>T (p.Gly645=)
c.1797C>T (p.Gly599=)
c.1478C>T
c.4660C>T
n.485C>T
n.2248C>T
 gnomAD v4
2g.219212420G>CCA431263754ABCB6,ATG9Ac.1935C>G (p.Gly645=)
c.1797C>G (p.Gly599=)
c.1478C>G
c.4660C>G
n.485C>G
n.2248C>G
2g.219212420G>TCA431263759ABCB6,ATG9Ac.1935C>A (p.Gly645=)
c.1797C>A (p.Gly599=)
c.1478C>A
c.4660C>A
n.485C>A
n.2248C>A
2g.219212421C>ACA350628664ABCB6,ATG9Ac.1934G>T (p.Gly645Val)
c.1796G>T (p.Gly599Val)
c.1477G>T
c.4659G>T
n.484G>T
n.2247G>T
2g.219212421C=CA1329113180ABCB6,ATG9Ac.1934G= (p.Gly645=)
c.1796G= (p.Gly599=)
c.1477G=
c.4659G=
n.484G=
n.2247G=
2g.219212421C>GCA350628665ABCB6,ATG9Ac.1934G>C (p.Gly645Ala)
c.1796G>C (p.Gly599Ala)
c.1477G>C
c.4659G>C
n.484G>C
n.2247G>C
2g.219212421C>TCA350628666ABCB6,ATG9Ac.1934G>A (p.Gly645Asp)
c.1796G>A (p.Gly599Asp)
c.1477G>A
c.4659G>A
n.484G>A
n.2247G>A
 dbSNP gnomAD v3 gnomAD v4
2g.219212422C>ACA350628667ABCB6,ATG9Ac.1933G>T (p.Gly645Cys)
c.1795G>T (p.Gly599Cys)
c.1476G>T
c.4658G>T
n.483G>T
n.2246G>T
2g.219212422C>GCA350628669ABCB6,ATG9Ac.1933G>C (p.Gly645Arg)
c.1795G>C (p.Gly599Arg)
c.1476G>C
c.4658G>C
n.483G>C
n.2246G>C
2g.219212422C>TCA350628668ABCB6,ATG9Ac.1933G>A (p.Gly645Ser)
c.1795G>A (p.Gly599Ser)
c.1476G>A
c.4658G>A
n.483G>A
n.2246G>A
2g.219212423A>CCA431263780ABCB6,ATG9Ac.1932T>G (p.Ser644=)
c.1794T>G (p.Ser598=)
c.1475T>G
c.4657T>G
n.482T>G
n.2245T>G
2g.219212423A>GCA431263782ABCB6,ATG9Ac.1932T>C (p.Ser644=)
c.1794T>C (p.Ser598=)
c.1475T>C
c.4657T>C
n.482T>C
n.2245T>C
2g.219212423A>TCA431263786ABCB6,ATG9Ac.1932T>A (p.Ser644=)
c.1794T>A (p.Ser598=)
c.1475T>A
c.4657T>A
n.482T>A
n.2245T>A
2g.219212424G>ACA350628670ABCB6,ATG9Ac.1931C>T (p.Ser644Phe)
c.1793C>T (p.Ser598Phe)
c.1474C>T
c.4656C>T
n.481C>T
n.2244C>T
 dbSNP gnomAD v3 gnomAD v4
2g.219212424G>CCA350628671ABCB6,ATG9Ac.1931C>G (p.Ser644Cys)
c.1793C>G (p.Ser598Cys)
c.1474C>G
c.4656C>G
n.481C>G
n.2244C>G
 dbSNP gnomAD v2
2g.219212424G=CA1329113184ABCB6,ATG9Ac.1931C= (p.Ser644=)
c.1793C= (p.Ser598=)
c.1474C=
c.4656C=
n.481C=
n.2244C=
2g.219212424G>TCA350628672ABCB6,ATG9Ac.1931C>A (p.Ser644Tyr)
c.1793C>A (p.Ser598Tyr)
c.1474C>A
c.4656C>A
n.481C>A
n.2244C>A
2g.219212425A>CCA350628673ABCB6,ATG9Ac.1930T>G (p.Ser644Ala)
c.1792T>G (p.Ser598Ala)
c.1473T>G
c.4655T>G
n.480T>G
n.2243T>G
2g.219212425A>GCA350628674ABCB6,ATG9Ac.1930T>C (p.Ser644Pro)
c.1792T>C (p.Ser598Pro)
c.1473T>C
c.4655T>C
n.480T>C
n.2243T>C
 gnomAD v4
2g.219212425A>TCA350628675ABCB6,ATG9Ac.1930T>A (p.Ser644Thr)
c.1792T>A (p.Ser598Thr)
c.1473T>A
c.4655T>A
n.480T>A
n.2243T>A
2g.219212426G>ACA431263802ABCB6,ATG9Ac.1929C>T (p.Ser643=)
c.1791C>T (p.Ser597=)
c.1472C>T
c.4654C>T
n.479C>T
n.2242C>T
 dbSNP gnomAD v3 gnomAD v4
2g.219212426G>CCA350628676ABCB6,ATG9Ac.1929C>G (p.Ser643Arg)
c.1791C>G (p.Ser597Arg)
c.1472C>G
c.4654C>G
n.479C>G
n.2242C>G
2g.219212426G=CA1329113187ABCB6,ATG9Ac.1929C= (p.Ser643=)
c.1791C= (p.Ser597=)
c.1472C=
c.4654C=
n.479C=
n.2242C=
2g.219212426G>TCA350628677ABCB6,ATG9Ac.1929C>A (p.Ser643Arg)
c.1791C>A (p.Ser597Arg)
c.1472C>A
c.4654C>A
n.479C>A
n.2242C>A
2g.219212427C>ACA350628678ABCB6,ATG9Ac.1928G>T (p.Ser643Ile)
c.1790G>T (p.Ser597Ile)
c.1471G>T
c.4653G>T
n.478G>T
n.2241G>T
2g.219212427C>GCA350628679ABCB6,ATG9Ac.1928G>C (p.Ser643Thr)
c.1790G>C (p.Ser597Thr)
c.1471G>C
c.4653G>C
n.478G>C
n.2241G>C
2g.219212427C>TCA350628680ABCB6,ATG9Ac.1928G>A (p.Ser643Asn)
c.1790G>A (p.Ser597Asn)
c.1471G>A
c.4653G>A
n.478G>A
n.2241G>A
2g.219212428T>ACA350628681ABCB6,ATG9Ac.1927A>T (p.Ser643Cys)
c.1789A>T (p.Ser597Cys)
c.1470A>T
c.4652A>T
n.477A>T
n.2240A>T
2g.219212428T>CCA350628682ABCB6,ATG9Ac.1927A>G (p.Ser643Gly)
c.1789A>G (p.Ser597Gly)
c.1470A>G
c.4652A>G
n.477A>G
n.2240A>G
2g.219212428T>GCA350628683ABCB6,ATG9Ac.1927A>C (p.Ser643Arg)
c.1789A>C (p.Ser597Arg)
c.1470A>C
c.4652A>C
n.477A>C
n.2240A>C
 dbSNP
2g.219212428T=CA1329113190ABCB6,ATG9Ac.1927A= (p.Ser643=)
c.1789A= (p.Ser597=)
c.1470A=
c.4652A=
n.477A=
n.2240A=
2g.219212429G>ACA431263826ABCB6,ATG9Ac.1926C>T (p.Ile642=)
c.1788C>T (p.Ile596=)
c.1469C>T
c.4651C>T
n.476C>T
n.2239C>T
2g.219212429G>CCA350628684ABCB6,ATG9Ac.1926C>G (p.Ile642Met)
c.1788C>G (p.Ile596Met)
c.1469C>G
c.4651C>G
n.476C>G
n.2239C>G
2g.219212429G>TCA431263829ABCB6,ATG9Ac.1926C>A (p.Ile642=)
c.1788C>A (p.Ile596=)
c.1469C>A
c.4651C>A
n.476C>A
n.2239C>A
2g.219212430A>CCA350628685ABCB6,ATG9Ac.1925T>G (p.Ile642Ser)
c.1787T>G (p.Ile596Ser)
c.1468T>G
c.4650T>G
n.475T>G
n.2238T>G
2g.219212430A>GCA350628686ABCB6,ATG9Ac.1925T>C (p.Ile642Thr)
c.1787T>C (p.Ile596Thr)
c.1468T>C
c.4650T>C
n.475T>C
n.2238T>C
2g.219212430A>TCA350628687ABCB6,ATG9Ac.1925T>A (p.Ile642Asn)
c.1787T>A (p.Ile596Asn)
c.1468T>A
c.4650T>A
n.475T>A
n.2238T>A
2g.219212431T>ACA350628688ABCB6,ATG9Ac.1924A>T (p.Ile642Phe)
c.1786A>T (p.Ile596Phe)
c.1467A>T
c.4649A>T
n.474A>T
n.2237A>T
2g.219212431T>CCA350628689ABCB6,ATG9Ac.1924A>G (p.Ile642Val)
c.1786A>G (p.Ile596Val)
c.1467A>G
c.4649A>G
n.474A>G
n.2237A>G
2g.219212431T>GCA350628690ABCB6,ATG9Ac.1924A>C (p.Ile642Leu)
c.1786A>C (p.Ile596Leu)
c.1467A>C
c.4649A>C
n.474A>C
n.2237A>C
2g.219212431_219212434delinsTGTCCA1329113193ABCB6,ATG9Ac.1921_1924delinsGACA (p.Asp641=)
c.1783_1786delinsGACA (p.Asp595=)
c.1464_1467delinsGACA
c.4646_4649delinsGACA
n.471_474delinsGACA
n.2234_2237delinsGACA
2g.219212432G>ACA431263851ABCB6,ATG9Ac.1923C>T (p.Asp641=)
c.1785C>T (p.Asp595=)
c.1466C>T
c.4648C>T
n.473C>T
n.2236C>T
2g.219212432G>CCA350628691ABCB6,ATG9Ac.1923C>G (p.Asp641Glu)
c.1785C>G (p.Asp595Glu)
c.1466C>G
c.4648C>G
n.473C>G
n.2236C>G
2g.219212432G>TCA350628692ABCB6,ATG9Ac.1923C>A (p.Asp641Glu)
c.1785C>A (p.Asp595Glu)
c.1466C>A
c.4648C>A
n.473C>A
n.2236C>A
2g.219212434_219212436delCA2119141ABCB6,ATG9Ac.1921_1923del (p.Asp641del)
c.1783_1785del (p.Asp595del)
c.1464_1466del
c.4646_4648del
n.471_473del
n.2234_2236del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219212433T>ACA350628693ABCB6,ATG9Ac.1922A>T (p.Asp641Val)
c.1784A>T (p.Asp595Val)
c.1465A>T
c.4647A>T
n.472A>T
n.2235A>T
 dbSNP gnomAD v3 gnomAD v4
2g.219212433T>CCA350628694ABCB6,ATG9Ac.1922A>G (p.Asp641Gly)
c.1784A>G (p.Asp595Gly)
c.1465A>G
c.4647A>G
n.472A>G
n.2235A>G
 dbSNP gnomAD v3 gnomAD v4
2g.219212433T>GCA350628695ABCB6,ATG9Ac.1922A>C (p.Asp641Ala)
c.1784A>C (p.Asp595Ala)
c.1465A>C
c.4647A>C
n.472A>C
n.2235A>C
2g.219212433T=CA1329113198ABCB6,ATG9Ac.1922A= (p.Asp641=)
c.1784A= (p.Asp595=)
c.1465A=
c.4647A=
n.472A=
n.2235A=
2g.219212434C>ACA350628696ABCB6,ATG9Ac.1921G>T (p.Asp641Tyr)
c.1783G>T (p.Asp595Tyr)
c.1464G>T
c.4646G>T
n.471G>T
n.2234G>T
2g.219212434C=CA1329113200ABCB6,ATG9Ac.1921G= (p.Asp641=)
c.1783G= (p.Asp595=)
c.1464G=
c.4646G=
n.471G=
n.2234G=
2g.219212434C>GCA350628697ABCB6,ATG9Ac.1921G>C (p.Asp641His)
c.1783G>C (p.Asp595His)
c.1464G>C
c.4646G>C
n.471G>C
n.2234G>C
2g.219212434C>TCA2119142ABCB6,ATG9Ac.1921G>A (p.Asp641Asn)
c.1783G>A (p.Asp595Asn)
c.1464G>A
c.4646G>A
n.471G>A
n.2234G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219212435G>ACA2119143ABCB6,ATG9Ac.1920C>T (p.Tyr640=)
c.1782C>T (p.Tyr594=)
c.1463C>T
c.4645C>T
n.470C>T
n.2233C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.219212435G>CCA350628698ABCB6,ATG9Ac.1920C>G (p.Tyr640Ter)
c.1782C>G (p.Tyr594Ter)
c.1463C>G
c.4645C>G
n.470C>G
n.2233C>G
2g.219212435G=CA1329113203ABCB6,ATG9Ac.1920C= (p.Tyr640=)
c.1782C= (p.Tyr594=)
c.1463C=
c.4645C=
n.470C=
n.2233C=
2g.219212435G>TCA350628699ABCB6,ATG9Ac.1920C>A (p.Tyr640Ter)
c.1782C>A (p.Tyr594Ter)
c.1463C>A
c.4645C>A
n.470C>A
n.2233C>A
2g.219212436T>ACA350628700ABCB6,ATG9Ac.1919A>T (p.Tyr640Phe)
c.1781A>T (p.Tyr594Phe)
c.1462A>T
c.4644A>T
n.469A>T
n.2232A>T
2g.219212436T>CCA350628701ABCB6,ATG9Ac.1919A>G (p.Tyr640Cys)
c.1781A>G (p.Tyr594Cys)
c.1462A>G
c.4644A>G
n.469A>G
n.2232A>G
2g.219212436T>GCA350628702ABCB6,ATG9Ac.1919A>C (p.Tyr640Ser)
c.1781A>C (p.Tyr594Ser)
c.1462A>C
c.4644A>C
n.469A>C
n.2232A>C
2g.219212437A>CCA350628705ABCB6,ATG9Ac.1918T>G (p.Tyr640Asp)
c.1780T>G (p.Tyr594Asp)
c.1461T>G
c.4643T>G
n.468T>G
n.2231T>G
 gnomAD v4
2g.219212437A>GCA350628704ABCB6,ATG9Ac.1918T>C (p.Tyr640His)
c.1780T>C (p.Tyr594His)
c.1461T>C
c.4643T>C
n.468T>C
n.2231T>C
2g.219212437A>TCA350628703ABCB6,ATG9Ac.1918T>A (p.Tyr640Asn)
c.1780T>A (p.Tyr594Asn)
c.1461T>A
c.4643T>A
n.468T>A
n.2231T>A
2g.219212438G>ACA2119144ABCB6,ATG9Ac.1917C>T (p.Phe639=)
c.1779C>T (p.Phe593=)
c.1460C>T
c.4642C>T
n.467C>T
n.2230C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219212438G>CCA2119145ABCB6,ATG9Ac.1917C>G (p.Phe639Leu)
c.1779C>G (p.Phe593Leu)
c.1460C>G
c.4642C>G
n.467C>G
n.2230C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219212438G=CA1329113206ABCB6,ATG9Ac.1917C= (p.Phe639=)
c.1779C= (p.Phe593=)
c.1460C=
c.4642C=
n.467C=
n.2230C=
2g.219212438G>TCA350628706ABCB6,ATG9Ac.1917C>A (p.Phe639Leu)
c.1779C>A (p.Phe593Leu)
c.1460C>A
c.4642C>A
n.467C>A
n.2230C>A
2g.219212439A=CA1329113211ABCB6,ATG9Ac.1916T= (p.Phe639=)
c.1778T= (p.Phe593=)
c.1459T=
c.4641T=
n.466T=
n.2229T=
2g.219212439A>CCA350628707ABCB6,ATG9Ac.1916T>G (p.Phe639Cys)
c.1778T>G (p.Phe593Cys)
c.1459T>G
c.4641T>G
n.466T>G
n.2229T>G
2g.219212439A>GCA350628708ABCB6,ATG9Ac.1916T>C (p.Phe639Ser)
c.1778T>C (p.Phe593Ser)
c.1459T>C
c.4641T>C
n.466T>C
n.2229T>C
 gnomAD v4
2g.219212439A>TCA350628709ABCB6,ATG9Ac.1916T>A (p.Phe639Tyr)
c.1778T>A (p.Phe593Tyr)
c.1459T>A
c.4641T>A
n.466T>A
n.2229T>A
 dbSNP gnomAD v2 gnomAD v4
2g.219212440A>CCA350628710ABCB6,ATG9Ac.1915T>G (p.Phe639Val)
c.1777T>G (p.Phe593Val)
c.1458T>G
c.4640T>G
n.465T>G
n.2228T>G
2g.219212440A>GCA350628712ABCB6,ATG9Ac.1915T>C (p.Phe639Leu)
c.1777T>C (p.Phe593Leu)
c.1458T>C
c.4640T>C
n.465T>C
n.2228T>C
 gnomAD v4
2g.219212440A>TCA350628711ABCB6,ATG9Ac.1915T>A (p.Phe639Ile)
c.1777T>A (p.Phe593Ile)
c.1458T>A
c.4640T>A
n.465T>A
n.2228T>A
2g.219212441G>ACA431263928ABCB6,ATG9Ac.1914C>T (p.Arg638=)
c.1776C>T (p.Arg592=)
c.1457C>T
c.4639C>T
n.464C>T
n.2227C>T
2g.219212441G>CCA431263932ABCB6,ATG9Ac.1914C>G (p.Arg638=)
c.1776C>G (p.Arg592=)
c.1457C>G
c.4639C>G
n.464C>G
n.2227C>G
 gnomAD v4
2g.219212441G>TCA431263936ABCB6,ATG9Ac.1914C>A (p.Arg638=)
c.1776C>A (p.Arg592=)
c.1457C>A
c.4639C>A
n.464C>A
n.2227C>A
2g.219212442C>ACA350628713ABCB6,ATG9Ac.1913G>T (p.Arg638Leu)
c.1775G>T (p.Arg592Leu)
c.1456G>T
c.4638G>T
n.463G>T
n.2226G>T
2g.219212442C=CA1329113214ABCB6,ATG9Ac.1913G= (p.Arg638=)
c.1775G= (p.Arg592=)
c.1456G=
c.4638G=
n.463G=
n.2226G=
2g.219212442C>GCA350628714ABCB6,ATG9Ac.1913G>C (p.Arg638Pro)
c.1775G>C (p.Arg592Pro)
c.1456G>C
c.4638G>C
n.463G>C
n.2226G>C
 gnomAD v4
2g.219212442C>TCA2119146ABCB6,ATG9Ac.1913G>A (p.Arg638His)
c.1775G>A (p.Arg592His)
c.1456G>A
c.4638G>A
n.463G>A
n.2226G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219212443G>ACA2119147ABCB6,ATG9Ac.1912C>T (p.Arg638Cys)
c.1774C>T (p.Arg592Cys)
c.1455C>T
c.4637C>T
n.462C>T
n.2225C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219212443G>CCA350628715ABCB6,ATG9Ac.1912C>G (p.Arg638Gly)
c.1774C>G (p.Arg592Gly)
c.1455C>G
c.4637C>G
n.462C>G
n.2225C>G
 gnomAD v4
2g.219212443G=CA1329113217ABCB6,ATG9Ac.1912C= (p.Arg638=)
c.1774C= (p.Arg592=)
c.1455C=
c.4637C=
n.462C=
n.2225C=
2g.219212443G>TCA350628716ABCB6,ATG9Ac.1912C>A (p.Arg638Ser)
c.1774C>A (p.Arg592Ser)
c.1455C>A
c.4637C>A
n.462C>A
n.2225C>A
2g.219212444A=CA1329113219ABCB6,ATG9Ac.1911T= (p.Phe637=)
c.1773T= (p.Phe591=)
c.1454T=
c.4636T=
n.461T=
n.2224T=
2g.219212444A>CCA350628717ABCB6,ATG9Ac.1911T>G (p.Phe637Leu)
c.1773T>G (p.Phe591Leu)
c.1454T>G
c.4636T>G
n.461T>G
n.2224T>G
2g.219212444A>GCA431263962ABCB6,ATG9Ac.1911T>C (p.Phe637=)
c.1773T>C (p.Phe591=)
c.1454T>C
c.4636T>C
n.461T>C
n.2224T>C
2g.219212444A>TCA350628718ABCB6,ATG9Ac.1911T>A (p.Phe637Leu)
c.1773T>A (p.Phe591Leu)
c.1454T>A
c.4636T>A
n.461T>A
n.2224T>A
 dbSNP
2g.219212445A=CA1329113224ABCB6,ATG9Ac.1910T= (p.Phe637=)
c.1772T= (p.Phe591=)
c.1453T=
c.4635T=
n.460T=
n.2223T=
2g.219212445A>CCA350628719ABCB6,ATG9Ac.1910T>G (p.Phe637Cys)
c.1772T>G (p.Phe591Cys)
c.1453T>G
c.4635T>G
n.460T>G
n.2223T>G
2g.219212445A>GCA350628720ABCB6,ATG9Ac.1910T>C (p.Phe637Ser)
c.1772T>C (p.Phe591Ser)
c.1453T>C
c.4635T>C
n.460T>C
n.2223T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219212445A>TCA350628721ABCB6,ATG9Ac.1910T>A (p.Phe637Tyr)
c.1772T>A (p.Phe591Tyr)
c.1453T>A
c.4635T>A
n.460T>A
n.2223T>A
2g.219212446A>CCA350628722ABCB6,ATG9Ac.1909T>G (p.Phe637Val)
c.1771T>G (p.Phe591Val)
c.1452T>G
c.4634T>G
n.459T>G
n.2222T>G
2g.219212446A>GCA350628724ABCB6,ATG9Ac.1909T>C (p.Phe637Leu)
c.1771T>C (p.Phe591Leu)
c.1452T>C
c.4634T>C
n.459T>C
n.2222T>C
2g.219212446A>TCA350628723ABCB6,ATG9Ac.1909T>A (p.Phe637Ile)
c.1771T>A (p.Phe591Ile)
c.1452T>A
c.4634T>A
n.459T>A
n.2222T>A
2g.219212447C>ACA431263982ABCB6,ATG9Ac.1908G>T (p.Leu636=)
c.1770G>T (p.Leu590=)
c.1451G>T
c.4633G>T
n.458G>T
n.2221G>T
2g.219212447C=CA1329113228ABCB6,ATG9Ac.1908G= (p.Leu636=)
c.1770G= (p.Leu590=)
c.1451G=
c.4633G=
n.458G=
n.2221G=
2g.219212447C>GCA2119148ABCB6,ATG9Ac.1908G>C (p.Leu636=)
c.1770G>C (p.Leu590=)
c.1451G>C
c.4633G>C
n.458G>C
n.2221G>C
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.219212447C>TCA431263988ABCB6,ATG9Ac.1908G>A (p.Leu636=)
c.1770G>A (p.Leu590=)
c.1451G>A
c.4633G>A
n.458G>A
n.2221G>A
 dbSNP gnomAD v4
2g.219212448A=CA1329113232ABCB6,ATG9Ac.1907T= (p.Leu636=)
c.1769T= (p.Leu590=)
c.1450T=
c.4632T=
n.457T=
n.2220T=
2g.219212448A>CCA350628725ABCB6,ATG9Ac.1907T>G (p.Leu636Arg)
c.1769T>G (p.Leu590Arg)
c.1450T>G
c.4632T>G
n.457T>G
n.2220T>G
2g.219212448A>GCA2119149ABCB6,ATG9Ac.1907T>C (p.Leu636Pro)
c.1769T>C (p.Leu590Pro)
c.1450T>C
c.4632T>C
n.457T>C
n.2220T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219212448A>TCA350628726ABCB6,ATG9Ac.1907T>A (p.Leu636Gln)
c.1769T>A (p.Leu590Gln)
c.1450T>A
c.4632T>A
n.457T>A
n.2220T>A
2g.219212449G>ACA431264014ABCB6,ATG9Ac.1906C>T (p.Leu636=)
c.1768C>T (p.Leu590=)
c.1449C>T
c.4631C>T
n.456C>T
n.2219C>T
 gnomAD v4
2g.219212449G>CCA350628727ABCB6,ATG9Ac.1906C>G (p.Leu636Val)
c.1768C>G (p.Leu590Val)
c.1449C>G
c.4631C>G
n.456C>G
n.2219C>G
 gnomAD v4
2g.219212449G>TCA350628728ABCB6,ATG9Ac.1906C>A (p.Leu636Met)
c.1768C>A (p.Leu590Met)
c.1449C>A
c.4631C>A
n.456C>A
n.2219C>A
2g.219212450C>ACA431264021ABCB6,ATG9Ac.1905G>T (p.Leu635=)
c.1767G>T (p.Leu589=)
c.1448G>T
c.4630G>T
n.455G>T
n.2218G>T
2g.219212450C>GCA431264024ABCB6,ATG9Ac.1905G>C (p.Leu635=)
c.1767G>C (p.Leu589=)
c.1448G>C
c.4630G>C
n.455G>C
n.2218G>C
2g.219212450C>TCA431264027ABCB6,ATG9Ac.1905G>A (p.Leu635=)
c.1767G>A (p.Leu589=)
c.1448G>A
c.4630G>A
n.455G>A
n.2218G>A
2g.219212450_219212451delinsCACA1329113236ABCB6,ATG9Ac.1904_1905delinsTG (p.Leu635=)
c.1766_1767delinsTG (p.Leu589=)
c.1447_1448delinsTG
c.4629_4630delinsTG
n.454_455delinsTG
n.2217_2218delinsTG
2g.219212451delCA539628582ABCB6,ATG9Ac.1904del (p.Leu635ArgfsTer15)
c.1766del (p.Leu589ArgfsTer15)
c.1447del
c.4629del
n.454del
n.2217del
 dbSNP gnomAD v2 gnomAD v4
2g.219212451A>CCA350628729ABCB6,ATG9Ac.1904T>G (p.Leu635Arg)
c.1766T>G (p.Leu589Arg)
c.1447T>G
c.4629T>G
n.454T>G
n.2217T>G
2g.219212451A>GCA350628730ABCB6,ATG9Ac.1904T>C (p.Leu635Pro)
c.1766T>C (p.Leu589Pro)
c.1447T>C
c.4629T>C
n.454T>C
n.2217T>C
2g.219212451A>TCA350628731ABCB6,ATG9Ac.1904T>A (p.Leu635Gln)
c.1766T>A (p.Leu589Gln)
c.1447T>A
c.4629T>A
n.454T>A
n.2217T>A
2g.219212452G>ACA431264050ABCB6,ATG9Ac.1903C>T (p.Leu635=)
c.1765C>T (p.Leu589=)
c.1446C>T
c.4628C>T
n.453C>T
n.2216C>T
2g.219212452G>CCA350628732ABCB6,ATG9Ac.1903C>G (p.Leu635Val)
c.1765C>G (p.Leu589Val)
c.1446C>G
c.4628C>G
n.453C>G
n.2216C>G
2g.219212452G>TCA350628733ABCB6,ATG9Ac.1903C>A (p.Leu635Met)
c.1765C>A (p.Leu589Met)
c.1446C>A
c.4628C>A
n.453C>A
n.2216C>A
2g.219212453G>ACA431264055ABCB6,ATG9Ac.1902C>T (p.Arg634=)
c.1764C>T (p.Arg588=)
c.1445C>T
c.4627C>T
n.452C>T
n.2215C>T
2g.219212453G>CCA431264060ABCB6,ATG9Ac.1902C>G (p.Arg634=)
c.1764C>G (p.Arg588=)
c.1445C>G
c.4627C>G
n.452C>G
n.2215C>G
2g.219212453G>TCA431264064ABCB6,ATG9Ac.1902C>A (p.Arg634=)
c.1764C>A (p.Arg588=)
c.1445C>A
c.4627C>A
n.452C>A
n.2215C>A
2g.219212454C>ACA350628735ABCB6,ATG9Ac.1901G>T (p.Arg634Leu)
c.1763G>T (p.Arg588Leu)
c.1444G>T
c.4626G>T
n.451G>T
n.2214G>T
 dbSNP gnomAD v3 gnomAD v4
2g.219212454C=CA1329113241ABCB6,ATG9Ac.1901G= (p.Arg634=)
c.1763G= (p.Arg588=)
c.1444G=
c.4626G=
n.451G=
n.2214G=
2g.219212454C>GCA350628734ABCB6,ATG9Ac.1901G>C (p.Arg634Pro)
c.1763G>C (p.Arg588Pro)
c.1444G>C
c.4626G>C
n.451G>C
n.2214G>C
 dbSNP
2g.219212454C>TCA2119150ABCB6,ATG9Ac.1901G>A (p.Arg634His)
c.1763G>A (p.Arg588His)
c.1444G>A
c.4626G>A
n.451G>A
n.2214G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219212455G>ACA2119151ABCB6,ATG9Ac.1900C>T (p.Arg634Cys)
c.1762C>T (p.Arg588Cys)
c.1443C>T
c.4625C>T
n.450C>T
n.2213C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.219212455G>CCA350628736ABCB6,ATG9Ac.1900C>G (p.Arg634Gly)
c.1762C>G (p.Arg588Gly)
c.1443C>G
c.4625C>G
n.450C>G
n.2213C>G
2g.219212455G=CA1329113243ABCB6,ATG9Ac.1900C= (p.Arg634=)
c.1762C= (p.Arg588=)
c.1443C=
c.4625C=
n.450C=
n.2213C=
2g.219212455G>TCA350628737ABCB6,ATG9Ac.1900C>A (p.Arg634Ser)
c.1762C>A (p.Arg588Ser)
c.1443C>A
c.4625C>A
n.450C>A
n.2213C>A
2g.219212456C>ACA350628738ABCB6,ATG9Ac.1899G>T (p.Leu633Phe)
c.1761G>T (p.Leu587Phe)
c.1442G>T
c.4624G>T
n.449G>T
n.2212G>T
2g.219212456C>GCA350628739ABCB6,ATG9Ac.1899G>C (p.Leu633Phe)
c.1761G>C (p.Leu587Phe)
c.1442G>C
c.4624G>C
n.449G>C
n.2212G>C
2g.219212456C>TCA431264100ABCB6,ATG9Ac.1899G>A (p.Leu633=)
c.1761G>A (p.Leu587=)
c.1442G>A
c.4624G>A
n.449G>A
n.2212G>A
2g.219212457A>CCA350628740ABCB6,ATG9Ac.1898T>G (p.Leu633Trp)
c.1760T>G (p.Leu587Trp)
c.1441T>G
c.4623T>G
n.448T>G
n.2211T>G
2g.219212457A>GCA350628741ABCB6,ATG9Ac.1898T>C (p.Leu633Ser)
c.1760T>C (p.Leu587Ser)
c.1441T>C
c.4623T>C
n.448T>C
n.2211T>C
2g.219212457A>TCA350628742ABCB6,ATG9Ac.1898T>A (p.Leu633Ter)
c.1760T>A (p.Leu587Ter)
c.1441T>A
c.4623T>A
n.448T>A
n.2211T>A
2g.219212458A>CCA350628743ABCB6,ATG9Ac.1897T>G (p.Leu633Val)
c.1759T>G (p.Leu587Val)
c.1440T>G
c.4622T>G
n.447T>G
n.2210T>G
2g.219212458A>GCA431264123ABCB6,ATG9Ac.1897T>C (p.Leu633=)
c.1759T>C (p.Leu587=)
c.1440T>C
c.4622T>C
n.447T>C
n.2210T>C
 gnomAD v4
2g.219212458A>TCA350628744ABCB6,ATG9Ac.1897T>A (p.Leu633Met)
c.1759T>A (p.Leu587Met)
c.1440T>A
c.4622T>A
n.447T>A
n.2210T>A
2g.219212459A>CCA350628745ABCB6,ATG9Ac.1896T>G (p.Ile632Met)
c.1758T>G (p.Ile586Met)
c.1439T>G
c.4621T>G
n.446T>G
n.2209T>G
2g.219212459A>GCA431264133ABCB6,ATG9Ac.1896T>C (p.Ile632=)
c.1758T>C (p.Ile586=)
c.1439T>C
c.4621T>C
n.446T>C
n.2209T>C
2g.219212459A>TCA431264136ABCB6,ATG9Ac.1896T>A (p.Ile632=)
c.1758T>A (p.Ile586=)
c.1439T>A
c.4621T>A
n.446T>A
n.2209T>A
2g.219212460A>CCA350628748ABCB6,ATG9Ac.1895T>G (p.Ile632Ser)
c.1757T>G (p.Ile586Ser)
c.1438T>G
c.4620T>G
n.445T>G
n.2208T>G
2g.219212460A>GCA350628747ABCB6,ATG9Ac.1895T>C (p.Ile632Thr)
c.1757T>C (p.Ile586Thr)
c.1438T>C
c.4620T>C
n.445T>C
n.2208T>C
2g.219212460A>TCA350628746ABCB6,ATG9Ac.1895T>A (p.Ile632Asn)
c.1757T>A (p.Ile586Asn)
c.1438T>A
c.4620T>A
n.445T>A
n.2208T>A
2g.219212461T>ACA350628749ABCB6,ATG9Ac.1894A>T (p.Ile632Phe)
c.1756A>T (p.Ile586Phe)
c.1437A>T
c.4619A>T
n.444A>T
n.2207A>T
2g.219212461T>CCA65946785ABCB6,ATG9Ac.1894A>G (p.Ile632Val)
c.1756A>G (p.Ile586Val)
c.1437A>G
c.4619A>G
n.444A>G
n.2207A>G
 dbSNP gnomAD v3 gnomAD v4
2g.219212461T>GCA350628750ABCB6,ATG9Ac.1894A>C (p.Ile632Leu)
c.1756A>C (p.Ile586Leu)
c.1437A>C
c.4619A>C
n.444A>C
n.2207A>C
2g.219212461T=CA1329113244ABCB6,ATG9Ac.1894A= (p.Ile632=)
c.1756A= (p.Ile586=)
c.1437A=
c.4619A=
n.444A=
n.2207A=
2g.219212462T>ACA431264159ABCB6,ATG9Ac.1893A>T (p.Thr631=)
c.1755A>T (p.Thr585=)
c.1436A>T
c.4618A>T
n.443A>T
n.2206A>T
2g.219212462T>CCA2119152ABCB6,ATG9Ac.1893A>G (p.Thr631=)
c.1755A>G (p.Thr585=)
c.1436A>G
c.4618A>G
n.443A>G
n.2206A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219212462T>GCA431264164ABCB6,ATG9Ac.1893A>C (p.Thr631=)
c.1755A>C (p.Thr585=)
c.1436A>C
c.4618A>C
n.443A>C
n.2206A>C
2g.219212462T=CA1329113245ABCB6,ATG9Ac.1893A= (p.Thr631=)
c.1755A= (p.Thr585=)
c.1436A=
c.4618A=
n.443A=
n.2206A=
2g.219212463G>ACA2119153ABCB6,ATG9Ac.1892C>T (p.Thr631Ile)
c.1754C>T (p.Thr585Ile)
c.1435C>T
c.4617C>T
n.442C>T
n.2205C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219212463G>CCA350628751ABCB6,ATG9Ac.1892C>G (p.Thr631Arg)
c.1754C>G (p.Thr585Arg)
c.1435C>G
c.4617C>G
n.442C>G
n.2205C>G
2g.219212463G=CA1329113248ABCB6,ATG9Ac.1892C= (p.Thr631=)
c.1754C= (p.Thr585=)
c.1435C=
c.4617C=
n.442C=
n.2205C=
2g.219212463G>TCA350628752ABCB6,ATG9Ac.1892C>A (p.Thr631Lys)
c.1754C>A (p.Thr585Lys)
c.1435C>A
c.4617C>A
n.442C>A
n.2205C>A
2g.219212464T>ACA350628753ABCB6,ATG9Ac.1891A>T (p.Thr631Ser)
c.1753A>T (p.Thr585Ser)
c.1434A>T
c.4616A>T
n.441A>T
n.2204A>T
2g.219212464T>CCA350628754ABCB6,ATG9Ac.1891A>G (p.Thr631Ala)
c.1753A>G (p.Thr585Ala)
c.1434A>G
c.4616A>G
n.441A>G
n.2204A>G
 dbSNP gnomAD v2 gnomAD v4
2g.219212464T>GCA350628756ABCB6,ATG9Ac.1891A>C (p.Thr631Pro)
c.1753A>C (p.Thr585Pro)
c.1434A>C
c.4616A>C
n.441A>C
n.2204A>C
2g.219212464T=CA1329113251ABCB6,ATG9Ac.1891A= (p.Thr631=)
c.1753A= (p.Thr585=)
c.1434A=
c.4616A=
n.441A=
n.2204A=
2g.219212465G>ACA431264180ABCB6,ATG9Ac.1890C>T (p.Ser630=)
c.1752C>T (p.Ser584=)
c.1433C>T
c.4615C>T
n.440C>T
n.2203C>T
2g.219212465G>CCA350628759ABCB6,ATG9Ac.1890C>G (p.Ser630Arg)
c.1752C>G (p.Ser584Arg)
c.1433C>G
c.4615C>G
n.440C>G
n.2203C>G
2g.219212465G>TCA350628761ABCB6,ATG9Ac.1890C>A (p.Ser630Arg)
c.1752C>A (p.Ser584Arg)
c.1433C>A
c.4615C>A
n.440C>A
n.2203C>A
2g.219212466C>ACA350628764ABCB6,ATG9Ac.1889G>T (p.Ser630Ile)
c.1751G>T (p.Ser584Ile)
c.1432G>T
c.4614G>T
n.439G>T
n.2202G>T
2g.219212466C=CA1329113254ABCB6,ATG9Ac.1889G= (p.Ser630=)
c.1751G= (p.Ser584=)
c.1432G=
c.4614G=
n.439G=
n.2202G=
2g.219212466C>GCA350628767ABCB6,ATG9Ac.1889G>C (p.Ser630Thr)
c.1751G>C (p.Ser584Thr)
c.1432G>C
c.4614G>C
n.439G>C
n.2202G>C
2g.219212466C>TCA350628769ABCB6,ATG9Ac.1889G>A (p.Ser630Asn)
c.1751G>A (p.Ser584Asn)
c.1432G>A
c.4614G>A
n.439G>A
n.2202G>A
 dbSNP gnomAD v2 gnomAD v4
2g.219212467T>ACA350628775ABCB6,ATG9Ac.1888A>T (p.Ser630Cys)
c.1750A>T (p.Ser584Cys)
c.1431A>T
c.4613A>T
n.438A>T
n.2201A>T
2g.219212467T>CCA2119154ABCB6,ATG9Ac.1888A>G (p.Ser630Gly)
c.1750A>G (p.Ser584Gly)
c.1431A>G
c.4613A>G
n.438A>G
n.2201A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219212467T>GCA350628780ABCB6,ATG9Ac.1888A>C (p.Ser630Arg)
c.1750A>C (p.Ser584Arg)
c.1431A>C
c.4613A>C
n.438A>C
n.2201A>C
2g.219212467T=CA1329113257ABCB6,ATG9Ac.1888A= (p.Ser630=)
c.1750A= (p.Ser584=)
c.1431A=
c.4613A=
n.438A=
n.2201A=
2g.219212468C>ACA350628783ABCB6,ATG9Ac.1887G>T (p.Lys629Asn)
c.1749G>T (p.Lys583Asn)
c.1430G>T
c.4612G>T
n.437G>T
n.2200G>T
2g.219212468C>GCA350628786ABCB6,ATG9Ac.1887G>C (p.Lys629Asn)
c.1749G>C (p.Lys583Asn)
c.1430G>C
c.4612G>C
n.437G>C
n.2200G>C
2g.219212468C>TCA431264215ABCB6,ATG9Ac.1887G>A (p.Lys629=)
c.1749G>A (p.Lys583=)
c.1430G>A
c.4612G>A
n.437G>A
n.2200G>A
2g.219212469T>ACA350628791ABCB6,ATG9Ac.1886A>T (p.Lys629Met)
c.1748A>T (p.Lys583Met)
c.1429A>T
c.4611A>T
n.436A>T
n.2199A>T
2g.219212469T>CCA350628792ABCB6,ATG9Ac.1886A>G (p.Lys629Arg)
c.1748A>G (p.Lys583Arg)
c.1429A>G
c.4611A>G
n.436A>G
n.2199A>G
2g.219212469T>GCA350628795ABCB6,ATG9Ac.1886A>C (p.Lys629Thr)
c.1748A>C (p.Lys583Thr)
c.1429A>C
c.4611A>C
n.436A>C
n.2199A>C
2g.219212470T>ACA350628799ABCB6,ATG9Ac.1885A>T (p.Lys629Ter)
c.1747A>T (p.Lys583Ter)
c.1428A>T
c.4610A>T
n.435A>T
n.2198A>T
2g.219212470T>CCA350628801ABCB6,ATG9Ac.1885A>G (p.Lys629Glu)
c.1747A>G (p.Lys583Glu)
c.1428A>G
c.4610A>G
n.435A>G
n.2198A>G
2g.219212470T>GCA350628803ABCB6,ATG9Ac.1885A>C (p.Lys629Gln)
c.1747A>C (p.Lys583Gln)
c.1428A>C
c.4610A>C
n.435A>C
n.2198A>C
2g.219212471C>ACA431264231ABCB6,ATG9Ac.1884G>T (p.Gly628=)
c.1746G>T (p.Gly582=)
c.1427G>T
c.4609G>T
n.434G>T
n.2197G>T
2g.219212471C>GCA431264236ABCB6,ATG9Ac.1884G>C (p.Gly628=)
c.1746G>C (p.Gly582=)
c.1427G>C
c.4609G>C
n.434G>C
n.2197G>C
2g.219212471C>TCA431264234ABCB6,ATG9Ac.1884G>A (p.Gly628=)
c.1746G>A (p.Gly582=)
c.1427G>A
c.4609G>A
n.434G>A
n.2197G>A
 gnomAD v4
2g.219212472C>ACA350628807ABCB6,ATG9Ac.1883G>T (p.Gly628Val)
c.1745G>T (p.Gly582Val)
c.1426G>T
c.4608G>T
n.433G>T
n.2196G>T
2g.219212472C>GCA350628810ABCB6,ATG9Ac.1883G>C (p.Gly628Ala)
c.1745G>C (p.Gly582Ala)
c.1426G>C
c.4608G>C
n.433G>C
n.2196G>C
2g.219212472C>TCA350628813ABCB6,ATG9Ac.1883G>A (p.Gly628Glu)
c.1745G>A (p.Gly582Glu)
c.1426G>A
c.4608G>A
n.433G>A
n.2196G>A
 dbSNP gnomAD v4
2g.219212473C>ACA350628817ABCB6,ATG9Ac.1882G>T (p.Gly628Trp)
c.1744G>T (p.Gly582Trp)
c.1425G>T
c.4607G>T
n.432G>T
n.2195G>T
2g.219212473C>GCA350628819ABCB6,ATG9Ac.1882G>C (p.Gly628Arg)
c.1744G>C (p.Gly582Arg)
c.1425G>C
c.4607G>C
n.432G>C
n.2195G>C
2g.219212473C>TCA350628822ABCB6,ATG9Ac.1882G>A (p.Gly628Arg)
c.1744G>A (p.Gly582Arg)
c.1425G>A
c.4607G>A
n.432G>A
n.2195G>A
2g.219212474T>ACA431264249ABCB6,ATG9Ac.1881A>T (p.Ala627=)
c.1743A>T (p.Ala581=)
c.1424A>T
c.4606A>T
n.431A>T
n.2194A>T
2g.219212474T>CCA431264252ABCB6,ATG9Ac.1881A>G (p.Ala627=)
c.1743A>G (p.Ala581=)
c.1424A>G
c.4606A>G
n.431A>G
n.2194A>G
2g.219212474T>GCA431264255ABCB6,ATG9Ac.1881A>C (p.Ala627=)
c.1743A>C (p.Ala581=)
c.1424A>C
c.4606A>C
n.431A>C
n.2194A>C
2g.219212475G>ACA350628824ABCB6,ATG9Ac.1880C>T (p.Ala627Val)
c.1742C>T (p.Ala581Val)
c.1423C>T
c.4605C>T
n.430C>T
n.2193C>T
 dbSNP gnomAD v2 gnomAD v4
2g.219212475G>CCA350628829ABCB6,ATG9Ac.1880C>G (p.Ala627Gly)
c.1742C>G (p.Ala581Gly)
c.1423C>G
c.4605C>G
n.430C>G
n.2193C>G
2g.219212475G=CA1329113267ABCB6,ATG9Ac.1880C= (p.Ala627=)
c.1742C= (p.Ala581=)
c.1423C=
c.4605C=
n.430C=
n.2193C=
2g.219212475G>TCA350628827ABCB6,ATG9Ac.1880C>A (p.Ala627Glu)
c.1742C>A (p.Ala581Glu)
c.1423C>A
c.4605C>A
n.430C>A
n.2193C>A
2g.219212475_219212476delinsGCCA1329113265ABCB6,ATG9Ac.1879_1880delinsGC (p.Ala627=)
c.1741_1742delinsGC (p.Ala581=)
c.1422_1423delinsGC
c.4604_4605delinsGC
n.429_430delinsGC
n.2192_2193delinsGC
2g.219212476C>ACA350628834ABCB6,ATG9Ac.1879G>T (p.Ala627Ser)
c.1741G>T (p.Ala581Ser)
c.1422G>T
c.4604G>T
n.429G>T
n.2192G>T
2g.219212476C>GCA350628837ABCB6,ATG9Ac.1879G>C (p.Ala627Pro)
c.1741G>C (p.Ala581Pro)
c.1422G>C
c.4604G>C
n.429G>C
n.2192G>C
2g.219212476C>TCA350628839ABCB6,ATG9Ac.1879G>A (p.Ala627Thr)
c.1741G>A (p.Ala581Thr)
c.1422G>A
c.4604G>A
n.429G>A
n.2192G>A
 gnomAD v4
2g.219212479delCA2119155ABCB6,ATG9Ac.1879del (p.Ala627GlnfsTer23)
c.1741del (p.Ala581GlnfsTer23)
c.1422del
c.4604del
n.429del
n.2192del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219212477C>ACA431264282ABCB6,ATG9Ac.1878G>T (p.Gly626=)
c.1740G>T (p.Gly580=)
c.1421G>T
c.4603G>T
n.428G>T
n.2191G>T
2g.219212477C=CA1329113271ABCB6,ATG9Ac.1878G= (p.Gly626=)
c.1740G= (p.Gly580=)
c.1421G=
c.4603G=
n.428G=
n.2191G=
2g.219212477C>GCA431264285ABCB6,ATG9Ac.1878G>C (p.Gly626=)
c.1740G>C (p.Gly580=)
c.1421G>C
c.4603G>C
n.428G>C
n.2191G>C
2g.219212477C>TCA431264288ABCB6,ATG9Ac.1878G>A (p.Gly626=)
c.1740G>A (p.Gly580=)
c.1421G>A
c.4603G>A
n.428G>A
n.2191G>A
 dbSNP gnomAD v4
2g.219212478C>ACA350628843ABCB6,ATG9Ac.1877G>T (p.Gly626Val)
c.1739G>T (p.Gly580Val)
c.1420G>T
c.4602G>T
n.427G>T
n.2190G>T
2g.219212478C>GCA350628846ABCB6,ATG9Ac.1877G>C (p.Gly626Ala)
c.1739G>C (p.Gly580Ala)
c.1420G>C
c.4602G>C
n.427G>C
n.2190G>C
2g.219212478C>TCA350628849ABCB6,ATG9Ac.1877G>A (p.Gly626Glu)
c.1739G>A (p.Gly580Glu)
c.1420G>A
c.4602G>A
n.427G>A
n.2190G>A
2g.219212479C>ACA350628852ABCB6,ATG9Ac.1876G>T (p.Gly626Trp)
c.1738G>T (p.Gly580Trp)
c.1419G>T
c.4601G>T
n.426G>T
n.2189G>T
 gnomAD v4
2g.219212479C=CA1329113275ABCB6,ATG9Ac.1876G= (p.Gly626=)
c.1738G= (p.Gly580=)
c.1419G=
c.4601G=
n.426G=
n.2189G=
2g.219212479C>GCA350628854ABCB6,ATG9Ac.1876G>C (p.Gly626Arg)
c.1738G>C (p.Gly580Arg)
c.1419G>C
c.4601G>C
n.426G>C
n.2189G>C
2g.219212479C>TCA350628858ABCB6,ATG9Ac.1876G>A (p.Gly626Arg)
c.1738G>A (p.Gly580Arg)
c.1419G>A
c.4601G>A
n.426G>A
n.2189G>A
 dbSNP
2g.219212480A>CCA431264328ABCB6,ATG9Ac.1875T>G (p.Ser625=)
c.1737T>G (p.Ser579=)
c.1418T>G
c.4600T>G
n.425T>G
n.2188T>G
2g.219212480A>GCA431264330ABCB6,ATG9Ac.1875T>C (p.Ser625=)
c.1737T>C (p.Ser579=)
c.1418T>C
c.4600T>C
n.425T>C
n.2188T>C
 gnomAD v4
2g.219212480A>TCA431264333ABCB6,ATG9Ac.1875T>A (p.Ser625=)
c.1737T>A (p.Ser579=)
c.1418T>A
c.4600T>A
n.425T>A
n.2188T>A
2g.219212481G>ACA350628862ABCB6,ATG9Ac.1874C>T (p.Ser625Phe)
c.1736C>T (p.Ser579Phe)
c.1417C>T
c.4599C>T
n.424C>T
n.2187C>T
2g.219212481G>CCA350628865ABCB6,ATG9Ac.1874C>G (p.Ser625Cys)
c.1736C>G (p.Ser579Cys)
c.1417C>G
c.4599C>G
n.424C>G
n.2187C>G
2g.219212481G=CA1329113281ABCB6,ATG9Ac.1874C= (p.Ser625=)
c.1736C= (p.Ser579=)
c.1417C=
c.4599C=
n.424C=
n.2187C=
2g.219212481G>TCA65946826ABCB6,ATG9Ac.1874C>A (p.Ser625Tyr)
c.1736C>A (p.Ser579Tyr)
c.1417C>A
c.4599C>A
n.424C>A
n.2187C>A
 dbSNP gnomAD v2 gnomAD v4
2g.219212482A>CCA350628870ABCB6,ATG9Ac.1873T>G (p.Ser625Ala)
c.1735T>G (p.Ser579Ala)
c.1416T>G
c.4598T>G
n.423T>G
n.2186T>G
2g.219212482A>GCA350628876ABCB6,ATG9Ac.1873T>C (p.Ser625Pro)
c.1735T>C (p.Ser579Pro)
c.1416T>C
c.4598T>C
n.423T>C
n.2186T>C
2g.219212482A>TCA350628873ABCB6,ATG9Ac.1873T>A (p.Ser625Thr)
c.1735T>A (p.Ser579Thr)
c.1416T>A
c.4598T>A
n.423T>A
n.2186T>A
2g.219212483T>ACA431264352ABCB6,ATG9Ac.1872A>T (p.Pro624=)
c.1734A>T (p.Pro578=)
c.1415A>T
c.4597A>T
n.422A>T
n.2185A>T
2g.219212483T>CCA2119156ABCB6,ATG9Ac.1872A>G (p.Pro624=)
c.1734A>G (p.Pro578=)
c.1415A>G
c.4597A>G
n.422A>G
n.2185A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219212483T>GCA431264359ABCB6,ATG9Ac.1872A>C (p.Pro624=)
c.1734A>C (p.Pro578=)
c.1415A>C
c.4597A>C
n.422A>C
n.2185A>C
 dbSNP gnomAD v3 gnomAD v4
2g.219212483T=CA1329113283ABCB6,ATG9Ac.1872A= (p.Pro624=)
c.1734A= (p.Pro578=)
c.1415A=
c.4597A=
n.422A=
n.2185A=
2g.219212484G>ACA350628883ABCB6,ATG9Ac.1871C>T (p.Pro624Leu)
c.1733C>T (p.Pro578Leu)
c.1414C>T
c.4596C>T
n.421C>T
n.2184C>T
2g.219212484G>CCA350628885ABCB6,ATG9Ac.1871C>G (p.Pro624Arg)
c.1733C>G (p.Pro578Arg)
c.1414C>G
c.4596C>G
n.421C>G
n.2184C>G
2g.219212484G>TCA350628888ABCB6,ATG9Ac.1871C>A (p.Pro624Gln)
c.1733C>A (p.Pro578Gln)
c.1414C>A
c.4596C>A
n.421C>A
n.2184C>A
2g.219212485G>ACA350628891ABCB6,ATG9Ac.1870C>T (p.Pro624Ser)
c.1732C>T (p.Pro578Ser)
c.1413C>T
c.4595C>T
n.420C>T
n.2183C>T
2g.219212485G>CCA350628893ABCB6,ATG9Ac.1870C>G (p.Pro624Ala)
c.1732C>G (p.Pro578Ala)
c.1413C>G
c.4595C>G
n.420C>G
n.2183C>G
2g.219212485G>TCA350628896ABCB6,ATG9Ac.1870C>A (p.Pro624Thr)
c.1732C>A (p.Pro578Thr)
c.1413C>A
c.4595C>A
n.420C>A
n.2183C>A
2g.219212486G>ACA431264381ABCB6,ATG9Ac.1869C>T (p.Gly623=)
c.1731C>T (p.Gly577=)
c.1412C>T
c.4594C>T
n.419C>T
n.2182C>T
2g.219212486G>CCA431264375ABCB6,ATG9Ac.1869C>G (p.Gly623=)
c.1731C>G (p.Gly577=)
c.1412C>G
c.4594C>G
n.419C>G
n.2182C>G
2g.219212486G>TCA431264378ABCB6,ATG9Ac.1869C>A (p.Gly623=)
c.1731C>A (p.Gly577=)
c.1412C>A
c.4594C>A
n.419C>A
n.2182C>A
2g.219212487C>ACA350628899ABCB6,ATG9Ac.1868G>T (p.Gly623Val)
c.1730G>T (p.Gly577Val)
c.1411G>T
c.4593G>T
n.418G>T
n.2181G>T
2g.219212487C=CA1329113286ABCB6,ATG9Ac.1868G= (p.Gly623=)
c.1730G= (p.Gly577=)
c.1411G=
c.4593G=
n.418G=
n.2181G=
2g.219212487C>GCA350628902ABCB6,ATG9Ac.1868G>C (p.Gly623Ala)
c.1730G>C (p.Gly577Ala)
c.1411G>C
c.4593G>C
n.418G>C
n.2181G>C
2g.219212487C>TCA350628905ABCB6,ATG9Ac.1868G>A (p.Gly623Asp)
c.1730G>A (p.Gly577Asp)
c.1411G>A
c.4593G>A
n.418G>A
n.2181G>A
 dbSNP
2g.219212489delCA2577297999ABCB6,ATG9Ac.1868del (p.Gly623AlafsTer27)
c.1730del (p.Gly577AlafsTer27)
c.1411del
c.4593del
n.418del
n.2181del
2g.219212487_219212488insTCA2119157ABCB6,ATG9Ac.1867_1868insA (p.Gly623GlufsTer?)
c.1729_1730insA (p.Gly577GlufsTer?)
c.1410_1411insA
c.4592_4593insA
n.417_418insA
n.2180_2181insA
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219212487_219212488insTCACCTGTCA1329113289ABCB6,ATG9Ac.1867_1868insACAGGTGA (p.Gly623AspfsTer3)
c.1729_1730insACAGGTGA (p.Gly577AspfsTer3)
c.1410_1411insACAGGTGA
c.4592_4593insACAGGTGA
n.417_418insACAGGTGA
n.2180_2181insACAGGTGA
 dbSNP
2g.219212488C>ACA350628909ABCB6,ATG9Ac.1867G>T (p.Gly623Cys)
c.1729G>T (p.Gly577Cys)
c.1410G>T
c.4592G>T
n.417G>T
n.2180G>T
2g.219212488C=CA1329113291ABCB6,ATG9Ac.1867G= (p.Gly623=)
c.1729G= (p.Gly577=)
c.1410G=
c.4592G=
n.417G=
n.2180G=
2g.219212488C>GCA350628910ABCB6,ATG9Ac.1867G>C (p.Gly623Arg)
c.1729G>C (p.Gly577Arg)
c.1410G>C
c.4592G>C
n.417G>C
n.2180G>C
2g.219212488C>TCA65946835ABCB6,ATG9Ac.1867G>A (p.Gly623Ser)
c.1729G>A (p.Gly577Ser)
c.1410G>A
c.4592G>A
n.417G>A
n.2180G>A
 dbSNP
2g.219212488delinsTCACCTGTTCA2586971371ABCB6,ATG9Ac.1867delinsAACAGGTGA (p.Gly623AsnfsTer3)
c.1729delinsAACAGGTGA (p.Gly577AsnfsTer3)
c.1410delinsAACAGGTGA
c.4592delinsAACAGGTGA
n.417delinsAACAGGTGA
n.2180delinsAACAGGTGA
2g.219212488_219212489insACCTGTTCA2119158ABCB6,ATG9Ac.1866_1867insAACAGGT (p.Gly623AsnfsTer?)
c.1728_1729insAACAGGT (p.Gly577AsnfsTer?)
c.1409_1410insAACAGGT
c.4591_4592insAACAGGT
n.416_417insAACAGGT
n.2179_2180insAACAGGT
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219212489C>ACA431264406ABCB6,ATG9Ac.1866G>T (p.Val622=)
c.1728G>T (p.Val576=)
c.1409G>T
c.4591G>T
n.416G>T
n.2179G>T
2g.219212489C=CA1329113294ABCB6,ATG9Ac.1866G= (p.Val622=)
c.1728G= (p.Val576=)
c.1409G=
c.4591G=
n.416G=
n.2179G=
2g.219212489C>GCA2119159ABCB6,ATG9Ac.1866G>C (p.Val622=)
c.1728G>C (p.Val576=)
c.1409G>C
c.4591G>C
n.416G>C
n.2179G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219212489C>TCA431264409ABCB6,ATG9Ac.1866G>A (p.Val622=)
c.1728G>A (p.Val576=)
c.1409G>A
c.4591G>A
n.416G>A
n.2179G>A
 gnomAD v4
2g.219212490A>CCA350628915ABCB6,ATG9Ac.1865T>G (p.Val622Gly)
c.1727T>G (p.Val576Gly)
c.1408T>G
c.4590T>G
n.415T>G
n.2178T>G
2g.219212490A>GCA350628918ABCB6,ATG9Ac.1865T>C (p.Val622Ala)
c.1727T>C (p.Val576Ala)
c.1408T>C
c.4590T>C
n.415T>C
n.2178T>C
2g.219212490A>TCA350628921ABCB6,ATG9Ac.1865T>A (p.Val622Glu)
c.1727T>A (p.Val576Glu)
c.1408T>A
c.4590T>A
n.415T>A
n.2178T>A
2g.219212491C>ACA350628924ABCB6,ATG9Ac.1864G>T (p.Val622Leu)
c.1726G>T (p.Val576Leu)
c.1407G>T
c.4589G>T
n.414G>T
n.2177G>T
2g.219212491C>GCA350628927ABCB6,ATG9Ac.1864G>C (p.Val622Leu)
c.1726G>C (p.Val576Leu)
c.1407G>C
c.4589G>C
n.414G>C
n.2177G>C
2g.219212491C>TCA350628930ABCB6,ATG9Ac.1864G>A (p.Val622Met)
c.1726G>A (p.Val576Met)
c.1407G>A
c.4589G>A
n.414G>A
n.2177G>A
 gnomAD v4
2g.219212492C>ACA350628931ABCB6,ATG9Ac.1864-1G>T (n.1864-1G>T)
c.1726-1G>T (n.1726-1G>T)
c.1407-1G>T
c.4589-1G>T
n.414-1G>T
n.2177-1G>T
2g.219212492C>GCA350628934ABCB6,ATG9Ac.1864-1G>C (n.1864-1G>C)
c.1726-1G>C (n.1726-1G>C)
c.1407-1G>C
c.4589-1G>C
n.414-1G>C
n.2177-1G>C
2g.219212492C>TCA350628936ABCB6,ATG9Ac.1864-1G>A (n.1864-1G>A)
c.1726-1G>A (n.1726-1G>A)
c.1407-1G>A
c.4589-1G>A
n.414-1G>A
n.2177-1G>A
2g.219212493T>ACA350628940ABCB6,ATG9Ac.1864-2A>T (n.1864-2A>T)
c.1726-2A>T (n.1726-2A>T)
c.1407-2A>T
c.4589-2A>T
n.414-2A>T
n.2177-2A>T
2g.219212493T>CCA350628942ABCB6,ATG9Ac.1864-2A>G (n.1864-2A>G)
c.1726-2A>G (n.1726-2A>G)
c.1407-2A>G
c.4589-2A>G
n.414-2A>G
n.2177-2A>G
2g.219212493T>GCA350628946ABCB6,ATG9Ac.1864-2A>C (n.1864-2A>C)
c.1726-2A>C (n.1726-2A>C)
c.1407-2A>C
c.4589-2A>C
n.414-2A>C
n.2177-2A>C
 dbSNP
2g.219212493T=CA1329113300ABCB6,ATG9Ac.1864-2A= (n.1864-2A=)
c.1726-2A= (n.1726-2A=)
c.1407-2A=
c.4589-2A=
n.414-2A=
n.2177-2A=
2g.219212494G>ACA2663212500ABCB6,ATG9Ac.1864-3C>T (n.1864-3C>T)
c.1726-3C>T (n.1726-3C>T)
c.1407-3C>T
c.4589-3C>T
n.414-3C>T
n.2177-3C>T
 gnomAD v4
2g.219212495T>CCA1042504542ABCB6,ATG9Ac.1864-4A>G (n.1864-4A>G)
c.1726-4A>G (n.1726-4A>G)
c.1407-4A>G
c.4589-4A>G
n.414-4A>G
n.2177-4A>G
 dbSNP gnomAD v3 gnomAD v4
2g.219212495T=CA1329113302ABCB6,ATG9Ac.1864-4A= (n.1864-4A=)
c.1726-4A= (n.1726-4A=)
c.1407-4A=
c.4589-4A=
n.414-4A=
n.2177-4A=
2g.219212496T>CCA539628608ABCB6,ATG9Ac.1864-5A>G (n.1864-5A>G)
c.1726-5A>G (n.1726-5A>G)
c.1407-5A>G
c.4589-5A>G
n.414-5A>G
n.2177-5A>G
 dbSNP gnomAD v2
2g.219212496T=CA1329113304ABCB6,ATG9Ac.1864-5A= (n.1864-5A=)
c.1726-5A= (n.1726-5A=)
c.1407-5A=
c.4589-5A=
n.414-5A=
n.2177-5A=
2g.219212497G>ACA2663212502ABCB6,ATG9Ac.1864-6C>T (n.1864-6C>T)
c.1726-6C>T (n.1726-6C>T)
c.1407-6C>T
c.4589-6C>T
n.414-6C>T
n.2177-6C>T
 gnomAD v4
2g.219212498C>TCA2701544606ABCB6,ATG9Ac.1864-7G>A (n.1864-7G>A)
c.1726-7G>A (n.1726-7G>A)
c.1407-7G>A
c.4589-7G>A
n.414-7G>A
n.2177-7G>A
 dbSNP
2g.219212499A=CA1329113306ABCB6,ATG9Ac.1864-8T= (n.1864-8T=)
c.1726-8T= (n.1726-8T=)
c.1407-8T=
c.4589-8T=
n.414-8T=
n.2177-8T=
2g.219212499A>GCA539628611ABCB6,ATG9Ac.1864-8T>C (n.1864-8T>C)
c.1726-8T>C (n.1726-8T>C)
c.1407-8T>C
c.4589-8T>C
n.414-8T>C
n.2177-8T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219212500T>CCA2119160ABCB6,ATG9Ac.1864-9A>G (n.1864-9A>G)
c.1726-9A>G (n.1726-9A>G)
c.1407-9A>G
c.4589-9A>G
n.414-9A>G
n.2177-9A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219212500T=CA1329113307ABCB6,ATG9Ac.1864-9A= (n.1864-9A=)
c.1726-9A= (n.1726-9A=)
c.1407-9A=
c.4589-9A=
n.414-9A=
n.2177-9A=
2g.219212501T>CCA764956795ABCB6,ATG9Ac.1864-10A>G (n.1864-10A>G)
c.1726-10A>G (n.1726-10A>G)
c.1407-10A>G
c.4589-10A>G
n.414-10A>G
n.2177-10A>G
 dbSNP gnomAD v3 gnomAD v4
2g.219212501T=CA1329113309ABCB6,ATG9Ac.1864-10A= (n.1864-10A=)
c.1726-10A= (n.1726-10A=)
c.1407-10A=
c.4589-10A=
n.414-10A=
n.2177-10A=
2g.219212502G>ACA1042504546ABCB6,ATG9Ac.1864-11C>T (n.1864-11C>T)
c.1726-11C>T (n.1726-11C>T)
c.1407-11C>T
c.4589-11C>T
n.414-11C>T
n.2177-11C>T
 dbSNP
2g.219212502G=CA1329113311ABCB6,ATG9Ac.1864-11C= (n.1864-11C=)
c.1726-11C= (n.1726-11C=)
c.1407-11C=
c.4589-11C=
n.414-11C=
n.2177-11C=
2g.219212503G>ACA2119161ABCB6,ATG9Ac.1864-12C>T (n.1864-12C>T)
c.1726-12C>T (n.1726-12C>T)
c.1407-12C>T
c.4589-12C>T
n.414-12C>T
n.2177-12C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219212503G>CCA2663212509ABCB6,ATG9Ac.1864-12C>G (n.1864-12C>G)
c.1726-12C>G (n.1726-12C>G)
c.1407-12C>G
c.4589-12C>G
n.414-12C>G
n.2177-12C>G
 gnomAD v4
2g.219212503G=CA1329113314ABCB6,ATG9Ac.1864-12C= (n.1864-12C=)
c.1726-12C= (n.1726-12C=)
c.1407-12C=
c.4589-12C=
n.414-12C=
n.2177-12C=
2g.219212503G>TCA2663212511ABCB6,ATG9Ac.1864-12C>A (n.1864-12C>A)
c.1726-12C>A (n.1726-12C>A)
c.1407-12C>A
c.4589-12C>A
n.414-12C>A
n.2177-12C>A
 gnomAD v4
2g.219212504A=CA1329113317ABCB6,ATG9Ac.1864-13T= (n.1864-13T=)
c.1726-13T= (n.1726-13T=)
c.1407-13T=
c.4589-13T=
n.414-13T=
n.2177-13T=
2g.219212504A>GCA539628619ABCB6,ATG9Ac.1864-13T>C (n.1864-13T>C)
c.1726-13T>C (n.1726-13T>C)
c.1407-13T>C
c.4589-13T>C
n.414-13T>C
n.2177-13T>C
 dbSNP gnomAD v2 gnomAD v4
2g.219212507T>GCA2663212513ABCB6,ATG9Ac.1864-16A>C (n.1864-16A>C)
c.1726-16A>C (n.1726-16A>C)
c.1407-16A>C
c.4589-16A>C
n.414-16A>C
n.2177-16A>C
 gnomAD v4
2g.219212510delCA2663212514ABCB6,ATG9Ac.1864-17del (n.1864-17del)
c.1726-17del (n.1726-17del)
c.1407-17del
c.4589-17del
n.414-17del
n.2177-17del
 gnomAD v4
2g.219212509G>ACA2577298000ABCB6,ATG9Ac.1864-18C>T (n.1864-18C>T)
c.1726-18C>T (n.1726-18C>T)
c.1407-18C>T
c.4589-18C>T
n.414-18C>T
n.2177-18C>T
 gnomAD v4
2g.219212509G>TCA2663212515ABCB6,ATG9Ac.1864-18C>A (n.1864-18C>A)
c.1726-18C>A (n.1726-18C>A)
c.1407-18C>A
c.4589-18C>A
n.414-18C>A
n.2177-18C>A
 gnomAD v4
2g.219212510G>ACA2663212516ABCB6,ATG9Ac.1864-19C>T (n.1864-19C>T)
c.1726-19C>T (n.1726-19C>T)
c.1407-19C>T
c.4589-19C>T
n.414-19C>T
n.2177-19C>T
 gnomAD v4
2g.219212510G>CCA1329113322ABCB6,ATG9Ac.1864-19C>G (n.1864-19C>G)
c.1726-19C>G (n.1726-19C>G)
c.1407-19C>G
c.4589-19C>G
n.414-19C>G
n.2177-19C>G
 dbSNP
2g.219212510G=CA1329113321ABCB6,ATG9Ac.1864-19C= (n.1864-19C=)
c.1726-19C= (n.1726-19C=)
c.1407-19C=
c.4589-19C=
n.414-19C=
n.2177-19C=
2g.219212510G>TCA2663212517ABCB6,ATG9Ac.1864-19C>A (n.1864-19C>A)
c.1726-19C>A (n.1726-19C>A)
c.1407-19C>A
c.4589-19C>A
n.414-19C>A
n.2177-19C>A
 gnomAD v4
2g.219212515dupCA2119162ABCB6,ATG9Ac.1864-20dup (n.1864-20dup)
c.1726-20dup (n.1726-20dup)
c.1407-20dup
c.4589-20dup
n.414-20dup
n.2177-20dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219212513A=CA1329113327ABCB6,ATG9Ac.1864-22T= (n.1864-22T=)
c.1726-22T= (n.1726-22T=)
c.1407-22T=
c.4589-22T=
n.414-22T=
n.2177-22T=
2g.219212513A>CCA2119163ABCB6,ATG9Ac.1864-22T>G (n.1864-22T>G)
c.1726-22T>G (n.1726-22T>G)
c.1407-22T>G
c.4589-22T>G
n.414-22T>G
n.2177-22T>G
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched