Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.43875128A=CA2493963575ABCG8c.1489-18A= (n.1489-18A=)
c.1486-18A= (n.1486-18A=)
c.1501-18A= (n.1501-18A=)
c.1498-18A= (n.1498-18A=)
c.1273-18A= (n.1273-18A=)
n.1991-18A=
n.2005-18A=
2g.43875128A>GCA769089146ABCG8c.1489-18A>G (n.1489-18A>G)
c.1486-18A>G (n.1486-18A>G)
c.1501-18A>G (n.1501-18A>G)
c.1498-18A>G (n.1498-18A>G)
c.1273-18A>G (n.1273-18A>G)
n.1991-18A>G
n.2005-18A>G
 dbSNP gnomAD v3 gnomAD v4
2g.43875129A>GCA2658831219ABCG8c.1489-17A>G (n.1489-17A>G)
c.1486-17A>G (n.1486-17A>G)
c.1501-17A>G (n.1501-17A>G)
c.1498-17A>G (n.1498-17A>G)
c.1273-17A>G (n.1273-17A>G)
n.1991-17A>G
n.2005-17A>G
 gnomAD v4
2g.43875129_43875130delinsAGCA2493963576ABCG8c.1489-17_1489-16delinsAG (n.1489-17_1489-16delinsAG)
c.1486-17_1486-16delinsAG (n.1486-17_1486-16delinsAG)
c.1501-17_1501-16delinsAG (n.1501-17_1501-16delinsAG)
c.1498-17_1498-16delinsAG (n.1498-17_1498-16delinsAG)
c.1273-17_1273-16delinsAG (n.1273-17_1273-16delinsAG)
n.1991-17_1991-16delinsAG
n.2005-17_2005-16delinsAG
2g.43875130G>ACA2658831220ABCG8c.1489-16G>A (n.1489-16G>A)
c.1486-16G>A (n.1486-16G>A)
c.1501-16G>A (n.1501-16G>A)
c.1498-16G>A (n.1498-16G>A)
c.1273-16G>A (n.1273-16G>A)
n.1991-16G>A
n.2005-16G>A
 gnomAD v4
2g.43875132delCA346670188ABCG8c.1489-14del (n.1489-14del)
c.1486-14del (n.1486-14del)
c.1501-14del (n.1501-14del)
c.1498-14del (n.1498-14del)
c.1273-14del (n.1273-14del)
n.1991-14del
n.2005-14del
 dbSNP
2g.43875131G>ACA10615247ABCG8c.1489-15G>A (n.1489-15G>A)
c.1486-15G>A (n.1486-15G>A)
c.1501-15G>A (n.1501-15G>A)
c.1498-15G>A (n.1498-15G>A)
c.1273-15G>A (n.1273-15G>A)
n.1991-15G>A
n.2005-15G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875131G=CA2493963577ABCG8c.1489-15G= (n.1489-15G=)
c.1486-15G= (n.1486-15G=)
c.1501-15G= (n.1501-15G=)
c.1498-15G= (n.1498-15G=)
c.1273-15G= (n.1273-15G=)
n.1991-15G=
n.2005-15G=
2g.43875132G=CA2493963578ABCG8c.1489-14G= (n.1489-14G=)
c.1486-14G= (n.1486-14G=)
c.1501-14G= (n.1501-14G=)
c.1498-14G= (n.1498-14G=)
c.1273-14G= (n.1273-14G=)
n.1991-14G=
n.2005-14G=
2g.43875132G>TCA1637525ABCG8c.1489-14G>T (n.1489-14G>T)
c.1486-14G>T (n.1486-14G>T)
c.1501-14G>T (n.1501-14G>T)
c.1498-14G>T (n.1498-14G>T)
c.1273-14G>T (n.1273-14G>T)
n.1991-14G>T
n.2005-14G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875133C>ACA2699304466ABCG8c.1489-13C>A (n.1489-13C>A)
c.1486-13C>A (n.1486-13C>A)
c.1501-13C>A (n.1501-13C>A)
c.1498-13C>A (n.1498-13C>A)
c.1273-13C>A (n.1273-13C>A)
n.1991-13C>A
n.2005-13C>A
 dbSNP
2g.43875135G>ACA2658831226ABCG8c.1489-11G>A (n.1489-11G>A)
c.1486-11G>A (n.1486-11G>A)
c.1501-11G>A (n.1501-11G>A)
c.1498-11G>A (n.1498-11G>A)
c.1273-11G>A (n.1273-11G>A)
n.1991-11G>A
n.2005-11G>A
 gnomAD v4
2g.43875136T>CCA532288367ABCG8c.1489-10T>C (n.1489-10T>C)
c.1486-10T>C (n.1486-10T>C)
c.1501-10T>C (n.1501-10T>C)
c.1498-10T>C (n.1498-10T>C)
c.1273-10T>C (n.1273-10T>C)
n.1991-10T>C
n.2005-10T>C
 dbSNP gnomAD v2 gnomAD v4
2g.43875136T=CA2493963579ABCG8c.1489-10T= (n.1489-10T=)
c.1486-10T= (n.1486-10T=)
c.1501-10T= (n.1501-10T=)
c.1498-10T= (n.1498-10T=)
c.1273-10T= (n.1273-10T=)
n.1991-10T=
n.2005-10T=
2g.43875137T>CCA2493963581ABCG8c.1489-9T>C (n.1489-9T>C)
c.1486-9T>C (n.1486-9T>C)
c.1501-9T>C (n.1501-9T>C)
c.1498-9T>C (n.1498-9T>C)
c.1273-9T>C (n.1273-9T>C)
n.1991-9T>C
n.2005-9T>C
 dbSNP
2g.43875137T=CA2493963580ABCG8c.1489-9T= (n.1489-9T=)
c.1486-9T= (n.1486-9T=)
c.1501-9T= (n.1501-9T=)
c.1498-9T= (n.1498-9T=)
c.1273-9T= (n.1273-9T=)
n.1991-9T=
n.2005-9T=
2g.43875141T>CCA1637526ABCG8c.1489-5T>C (n.1489-5T>C)
c.1486-5T>C (n.1486-5T>C)
c.1501-5T>C (n.1501-5T>C)
c.1498-5T>C (n.1498-5T>C)
c.1273-5T>C (n.1273-5T>C)
n.1991-5T>C
n.2005-5T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875141T=CA2493963582ABCG8c.1489-5T= (n.1489-5T=)
c.1486-5T= (n.1486-5T=)
c.1501-5T= (n.1501-5T=)
c.1498-5T= (n.1498-5T=)
c.1273-5T= (n.1273-5T=)
n.1991-5T=
n.2005-5T=
2g.43875142G>ACA1637527ABCG8c.1489-4G>A (n.1489-4G>A)
c.1486-4G>A (n.1486-4G>A)
c.1501-4G>A (n.1501-4G>A)
c.1498-4G>A (n.1498-4G>A)
c.1273-4G>A (n.1273-4G>A)
n.1991-4G>A
n.2005-4G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875142G=CA2493963583ABCG8c.1489-4G= (n.1489-4G=)
c.1486-4G= (n.1486-4G=)
c.1501-4G= (n.1501-4G=)
c.1498-4G= (n.1498-4G=)
c.1273-4G= (n.1273-4G=)
n.1991-4G=
n.2005-4G=
2g.43875142G>TCA2658831230ABCG8c.1489-4G>T (n.1489-4G>T)
c.1486-4G>T (n.1486-4G>T)
c.1501-4G>T (n.1501-4G>T)
c.1498-4G>T (n.1498-4G>T)
c.1273-4G>T (n.1273-4G>T)
n.1991-4G>T
n.2005-4G>T
 gnomAD v4
2g.43875143C>TCA2658831231ABCG8c.1489-3C>T (n.1489-3C>T)
c.1486-3C>T (n.1486-3C>T)
c.1501-3C>T (n.1501-3C>T)
c.1498-3C>T (n.1498-3C>T)
c.1273-3C>T (n.1273-3C>T)
n.1991-3C>T
n.2005-3C>T
 gnomAD v4
2g.43875144A>CCA346670189ABCG8c.1489-2A>C (n.1489-2A>C)
c.1486-2A>C (n.1486-2A>C)
c.1501-2A>C (n.1501-2A>C)
c.1498-2A>C (n.1498-2A>C)
c.1273-2A>C (n.1273-2A>C)
n.1991-2A>C
n.2005-2A>C
2g.43875144A>GCA346670190ABCG8c.1489-2A>G (n.1489-2A>G)
c.1486-2A>G (n.1486-2A>G)
c.1501-2A>G (n.1501-2A>G)
c.1498-2A>G (n.1498-2A>G)
c.1273-2A>G (n.1273-2A>G)
n.1991-2A>G
n.2005-2A>G
2g.43875144A>TCA346670191ABCG8c.1489-2A>T (n.1489-2A>T)
c.1486-2A>T (n.1486-2A>T)
c.1501-2A>T (n.1501-2A>T)
c.1498-2A>T (n.1498-2A>T)
c.1273-2A>T (n.1273-2A>T)
n.1991-2A>T
n.2005-2A>T
2g.43875145G>ACA346670192ABCG8c.1489-1G>A (n.1489-1G>A)
c.1486-1G>A (n.1486-1G>A)
c.1501-1G>A (n.1501-1G>A)
c.1498-1G>A (n.1498-1G>A)
c.1273-1G>A (n.1273-1G>A)
n.1991-1G>A
n.2005-1G>A
2g.43875145G>CCA346670194ABCG8c.1489-1G>C (n.1489-1G>C)
c.1486-1G>C (n.1486-1G>C)
c.1501-1G>C (n.1501-1G>C)
c.1498-1G>C (n.1498-1G>C)
c.1273-1G>C (n.1273-1G>C)
n.1991-1G>C
n.2005-1G>C
2g.43875145G>TCA346670193ABCG8c.1489-1G>T (n.1489-1G>T)
c.1486-1G>T (n.1486-1G>T)
c.1501-1G>T (n.1501-1G>T)
c.1498-1G>T (n.1498-1G>T)
c.1273-1G>T (n.1273-1G>T)
n.1991-1G>T
n.2005-1G>T
2g.43875146A=CA2493963584ABCG8c.1489A= (p.Ile497=)
c.1486A= (p.Ile496=)
c.1501A= (p.Ile501=)
c.1498A= (p.Ile500=)
c.1273A= (p.Ile425=)
n.1991A=
n.2005A=
2g.43875146A>CCA346670195ABCG8c.1489A>C (p.Ile497Leu)
c.1486A>C (p.Ile496Leu)
c.1501A>C (p.Ile501Leu)
c.1498A>C (p.Ile500Leu)
c.1273A>C (p.Ile425Leu)
n.1991A>C
n.2005A>C
2g.43875146A>GCA346670197ABCG8c.1489A>G (p.Ile497Val)
c.1486A>G (p.Ile496Val)
c.1501A>G (p.Ile501Val)
c.1498A>G (p.Ile500Val)
c.1273A>G (p.Ile425Val)
n.1991A>G
n.2005A>G
 dbSNP
2g.43875146A>TCA346670196ABCG8c.1489A>T (p.Ile497Phe)
c.1486A>T (p.Ile496Phe)
c.1501A>T (p.Ile501Phe)
c.1498A>T (p.Ile500Phe)
c.1273A>T (p.Ile425Phe)
n.1991A>T
n.2005A>T
2g.43875147T>ACA46470730ABCG8c.1490T>A (p.Ile497Asn)
c.1487T>A (p.Ile496Asn)
c.1502T>A (p.Ile501Asn)
c.1499T>A (p.Ile500Asn)
c.1274T>A (p.Ile425Asn)
n.1992T>A
n.2006T>A
 dbSNP
2g.43875147T>CCA346670198ABCG8c.1490T>C (p.Ile497Thr)
c.1487T>C (p.Ile496Thr)
c.1502T>C (p.Ile501Thr)
c.1499T>C (p.Ile500Thr)
c.1274T>C (p.Ile425Thr)
n.1992T>C
n.2006T>C
 dbSNP gnomAD v3 gnomAD v4
2g.43875147T>GCA346670199ABCG8c.1490T>G (p.Ile497Ser)
c.1487T>G (p.Ile496Ser)
c.1502T>G (p.Ile501Ser)
c.1499T>G (p.Ile500Ser)
c.1274T>G (p.Ile425Ser)
n.1992T>G
n.2006T>G
2g.43875147T=CA2493963585ABCG8c.1490T= (p.Ile497=)
c.1487T= (p.Ile496=)
c.1502T= (p.Ile501=)
c.1499T= (p.Ile500=)
c.1274T= (p.Ile425=)
n.1992T=
n.2006T=
2g.43875148C>ACA425908116ABCG8c.1491C>A (p.Ile497=)
c.1488C>A (p.Ile496=)
c.1503C>A (p.Ile501=)
c.1500C>A (p.Ile500=)
c.1275C>A (p.Ile425=)
n.1993C>A
n.2007C>A
2g.43875148C>GCA346670200ABCG8c.1491C>G (p.Ile497Met)
c.1488C>G (p.Ile496Met)
c.1503C>G (p.Ile501Met)
c.1500C>G (p.Ile500Met)
c.1275C>G (p.Ile425Met)
n.1993C>G
n.2007C>G
2g.43875148C>TCA425908117ABCG8c.1491C>T (p.Ile497=)
c.1488C>T (p.Ile496=)
c.1503C>T (p.Ile501=)
c.1500C>T (p.Ile500=)
c.1275C>T (p.Ile425=)
n.1993C>T
n.2007C>T
 gnomAD v4
2g.43875149C>ACA346670201ABCG8c.1492C>A (p.Leu498Ile)
c.1489C>A (p.Leu497Ile)
c.1504C>A (p.Leu502Ile)
c.1501C>A (p.Leu501Ile)
c.1276C>A (p.Leu426Ile)
n.1994C>A
n.2008C>A
 COSMIC
2g.43875149C=CA2493963586ABCG8c.1492C= (p.Leu498=)
c.1489C= (p.Leu497=)
c.1504C= (p.Leu502=)
c.1501C= (p.Leu501=)
c.1276C= (p.Leu426=)
n.1994C=
n.2008C=
2g.43875149C>GCA346670202ABCG8c.1492C>G (p.Leu498Val)
c.1489C>G (p.Leu497Val)
c.1504C>G (p.Leu502Val)
c.1501C>G (p.Leu501Val)
c.1276C>G (p.Leu426Val)
n.1994C>G
n.2008C>G
2g.43875149C>TCA346670203ABCG8c.1492C>T (p.Leu498Phe)
c.1489C>T (p.Leu497Phe)
c.1504C>T (p.Leu502Phe)
c.1501C>T (p.Leu501Phe)
c.1276C>T (p.Leu426Phe)
n.1994C>T
n.2008C>T
 dbSNP gnomAD v4
2g.43875150T>ACA346670204ABCG8c.1493T>A (p.Leu498His)
c.1490T>A (p.Leu497His)
c.1505T>A (p.Leu502His)
c.1502T>A (p.Leu501His)
c.1277T>A (p.Leu426His)
n.1995T>A
n.2009T>A
2g.43875150T>CCA346670205ABCG8c.1493T>C (p.Leu498Pro)
c.1490T>C (p.Leu497Pro)
c.1505T>C (p.Leu502Pro)
c.1502T>C (p.Leu501Pro)
c.1277T>C (p.Leu426Pro)
n.1995T>C
n.2009T>C
2g.43875150T>GCA346670206ABCG8c.1493T>G (p.Leu498Arg)
c.1490T>G (p.Leu497Arg)
c.1505T>G (p.Leu502Arg)
c.1502T>G (p.Leu501Arg)
c.1277T>G (p.Leu426Arg)
n.1995T>G
n.2009T>G
2g.43875151C>ACA425908118ABCG8c.1494C>A (p.Leu498=)
c.1491C>A (p.Leu497=)
c.1506C>A (p.Leu502=)
c.1503C>A (p.Leu501=)
c.1278C>A (p.Leu426=)
n.1996C>A
n.2010C>A
2g.43875151C=CA2493963587ABCG8c.1494C= (p.Leu498=)
c.1491C= (p.Leu497=)
c.1506C= (p.Leu502=)
c.1503C= (p.Leu501=)
c.1278C= (p.Leu426=)
n.1996C=
n.2010C=
2g.43875151C>GCA1637528ABCG8c.1494C>G (p.Leu498=)
c.1491C>G (p.Leu497=)
c.1506C>G (p.Leu502=)
c.1503C>G (p.Leu501=)
c.1278C>G (p.Leu426=)
n.1996C>G
n.2010C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875151C>TCA1637529ABCG8c.1494C>T (p.Leu498=)
c.1491C>T (p.Leu497=)
c.1506C>T (p.Leu502=)
c.1503C>T (p.Leu501=)
c.1278C>T (p.Leu426=)
n.1996C>T
n.2010C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875152G>ACA1637530ABCG8c.1495G>A (p.Gly499Arg)
c.1492G>A (p.Gly498Arg)
c.1507G>A (p.Gly503Arg)
c.1504G>A (p.Gly502Arg)
c.1279G>A (p.Gly427Arg)
n.1997G>A
n.2011G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875152G>CCA346670207ABCG8c.1495G>C (p.Gly499Arg)
c.1492G>C (p.Gly498Arg)
c.1507G>C (p.Gly503Arg)
c.1504G>C (p.Gly502Arg)
c.1279G>C (p.Gly427Arg)
n.1997G>C
n.2011G>C
 dbSNP gnomAD v3 gnomAD v4
2g.43875152G=CA2493963588ABCG8c.1495G= (p.Gly499=)
c.1492G= (p.Gly498=)
c.1507G= (p.Gly503=)
c.1504G= (p.Gly502=)
c.1279G= (p.Gly427=)
n.1997G=
n.2011G=
2g.43875152G>TCA346670208ABCG8c.1495G>T (p.Gly499Trp)
c.1492G>T (p.Gly498Trp)
c.1507G>T (p.Gly503Trp)
c.1504G>T (p.Gly502Trp)
c.1279G>T (p.Gly427Trp)
n.1997G>T
n.2011G>T
2g.43875156_43875157insTCTCGGGGGACA2586969035ABCG8c.1499_1500insTCTCGGGGGA (p.Glu500AspfsTer?)
c.1496_1497insTCTCGGGGGA (p.Glu499AspfsTer?)
c.1511_1512insTCTCGGGGGA (p.Glu504AspfsTer?)
c.1508_1509insTCTCGGGGGA (p.Glu503AspfsTer?)
c.1283_1284insTCTCGGGGGA (p.Glu428AspfsTer?)
n.2001_2002insTCTCGGGGGA
n.2015_2016insTCTCGGGGGA
2g.43875153G>ACA346670209ABCG8c.1496G>A (p.Gly499Glu)
c.1493G>A (p.Gly498Glu)
c.1508G>A (p.Gly503Glu)
c.1505G>A (p.Gly502Glu)
c.1280G>A (p.Gly427Glu)
n.1998G>A
n.2012G>A
 COSMIC
2g.43875153G>CCA346670210ABCG8c.1496G>C (p.Gly499Ala)
c.1493G>C (p.Gly498Ala)
c.1508G>C (p.Gly503Ala)
c.1505G>C (p.Gly502Ala)
c.1280G>C (p.Gly427Ala)
n.1998G>C
n.2012G>C
2g.43875153G=CA2493963589ABCG8c.1496G= (p.Gly499=)
c.1493G= (p.Gly498=)
c.1508G= (p.Gly503=)
c.1505G= (p.Gly502=)
c.1280G= (p.Gly427=)
n.1998G=
n.2012G=
2g.43875153G>TCA346670211ABCG8c.1496G>T (p.Gly499Val)
c.1493G>T (p.Gly498Val)
c.1508G>T (p.Gly503Val)
c.1505G>T (p.Gly502Val)
c.1280G>T (p.Gly427Val)
n.1998G>T
n.2012G>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875154G>ACA425908119ABCG8c.1497G>A (p.Gly499=)
c.1494G>A (p.Gly498=)
c.1509G>A (p.Gly503=)
c.1506G>A (p.Gly502=)
c.1281G>A (p.Gly427=)
n.1999G>A
n.2013G>A
 COSMIC
2g.43875154G>CCA425908121ABCG8c.1497G>C (p.Gly499=)
c.1494G>C (p.Gly498=)
c.1509G>C (p.Gly503=)
c.1506G>C (p.Gly502=)
c.1281G>C (p.Gly427=)
n.1999G>C
n.2013G>C
2g.43875154G>TCA425908120ABCG8c.1497G>T (p.Gly499=)
c.1494G>T (p.Gly498=)
c.1509G>T (p.Gly503=)
c.1506G>T (p.Gly502=)
c.1281G>T (p.Gly427=)
n.1999G>T
n.2013G>T
2g.43875155G>ACA346670212ABCG8c.1498G>A (p.Glu500Lys)
c.1495G>A (p.Glu499Lys)
c.1510G>A (p.Glu504Lys)
c.1507G>A (p.Glu503Lys)
c.1282G>A (p.Glu428Lys)
n.2000G>A
n.2014G>A
 dbSNP
2g.43875155G>CCA346670213ABCG8c.1498G>C (p.Glu500Gln)
c.1495G>C (p.Glu499Gln)
c.1510G>C (p.Glu504Gln)
c.1507G>C (p.Glu503Gln)
c.1282G>C (p.Glu428Gln)
n.2000G>C
n.2014G>C
2g.43875155G=CA2493963590ABCG8c.1498G= (p.Glu500=)
c.1495G= (p.Glu499=)
c.1510G= (p.Glu504=)
c.1507G= (p.Glu503=)
c.1282G= (p.Glu428=)
n.2000G=
n.2014G=
2g.43875155G>TCA346670214ABCG8c.1498G>T (p.Glu500Ter)
c.1495G>T (p.Glu499Ter)
c.1510G>T (p.Glu504Ter)
c.1507G>T (p.Glu503Ter)
c.1282G>T (p.Glu428Ter)
n.2000G>T
n.2014G>T
2g.43875156A>CCA346670215ABCG8c.1499A>C (p.Glu500Ala)
c.1496A>C (p.Glu499Ala)
c.1511A>C (p.Glu504Ala)
c.1508A>C (p.Glu503Ala)
c.1283A>C (p.Glu428Ala)
n.2001A>C
n.2015A>C
2g.43875156A>GCA346670216ABCG8c.1499A>G (p.Glu500Gly)
c.1496A>G (p.Glu499Gly)
c.1511A>G (p.Glu504Gly)
c.1508A>G (p.Glu503Gly)
c.1283A>G (p.Glu428Gly)
n.2001A>G
n.2015A>G
2g.43875156A>TCA346670217ABCG8c.1499A>T (p.Glu500Val)
c.1496A>T (p.Glu499Val)
c.1511A>T (p.Glu504Val)
c.1508A>T (p.Glu503Val)
c.1283A>T (p.Glu428Val)
n.2001A>T
n.2015A>T
2g.43875157G>ACA425908122ABCG8c.1500G>A (p.Glu500=)
c.1497G>A (p.Glu499=)
c.1512G>A (p.Glu504=)
c.1509G>A (p.Glu503=)
c.1284G>A (p.Glu428=)
n.2002G>A
n.2016G>A
 gnomAD v4
2g.43875157G>CCA346670218ABCG8c.1500G>C (p.Glu500Asp)
c.1497G>C (p.Glu499Asp)
c.1512G>C (p.Glu504Asp)
c.1509G>C (p.Glu503Asp)
c.1284G>C (p.Glu428Asp)
n.2002G>C
n.2016G>C
2g.43875157G=CA2493963591ABCG8c.1500G= (p.Glu500=)
c.1497G= (p.Glu499=)
c.1512G= (p.Glu504=)
c.1509G= (p.Glu503=)
c.1284G= (p.Glu428=)
n.2002G=
n.2016G=
2g.43875157G>TCA46470756ABCG8c.1500G>T (p.Glu500Asp)
c.1497G>T (p.Glu499Asp)
c.1512G>T (p.Glu504Asp)
c.1509G>T (p.Glu503Asp)
c.1284G>T (p.Glu428Asp)
n.2002G>T
n.2016G>T
 dbSNP gnomAD v3 gnomAD v4
2g.43875158C>ACA346670221ABCG8c.1501C>A (p.Leu501Ile)
c.1498C>A (p.Leu500Ile)
c.1513C>A (p.Leu505Ile)
c.1510C>A (p.Leu504Ile)
c.1285C>A (p.Leu429Ile)
n.2003C>A
n.2017C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.43875158C=CA2493963592ABCG8c.1501C= (p.Leu501=)
c.1498C= (p.Leu500=)
c.1513C= (p.Leu505=)
c.1510C= (p.Leu504=)
c.1285C= (p.Leu429=)
n.2003C=
n.2017C=
2g.43875158C>GCA346670220ABCG8c.1501C>G (p.Leu501Val)
c.1498C>G (p.Leu500Val)
c.1513C>G (p.Leu505Val)
c.1510C>G (p.Leu504Val)
c.1285C>G (p.Leu429Val)
n.2003C>G
n.2017C>G
2g.43875158C>TCA346670219ABCG8c.1501C>T (p.Leu501Phe)
c.1498C>T (p.Leu500Phe)
c.1513C>T (p.Leu505Phe)
c.1510C>T (p.Leu504Phe)
c.1285C>T (p.Leu429Phe)
n.2003C>T
n.2017C>T
2g.43875159T>ACA346670224ABCG8c.1502T>A (p.Leu501His)
c.1499T>A (p.Leu500His)
c.1514T>A (p.Leu505His)
c.1511T>A (p.Leu504His)
c.1286T>A (p.Leu429His)
n.2004T>A
n.2018T>A
2g.43875159T>CCA346670222ABCG8c.1502T>C (p.Leu501Pro)
c.1499T>C (p.Leu500Pro)
c.1514T>C (p.Leu505Pro)
c.1511T>C (p.Leu504Pro)
c.1286T>C (p.Leu429Pro)
n.2004T>C
n.2018T>C
 dbSNP
2g.43875159T>GCA346670223ABCG8c.1502T>G (p.Leu501Arg)
c.1499T>G (p.Leu500Arg)
c.1514T>G (p.Leu505Arg)
c.1511T>G (p.Leu504Arg)
c.1286T>G (p.Leu429Arg)
n.2004T>G
n.2018T>G
2g.43875159T=CA2493963593ABCG8c.1502T= (p.Leu501=)
c.1499T= (p.Leu500=)
c.1514T= (p.Leu505=)
c.1511T= (p.Leu504=)
c.1286T= (p.Leu429=)
n.2004T=
n.2018T=
2g.43875160T>ACA425908123ABCG8c.1503T>A (p.Leu501=)
c.1500T>A (p.Leu500=)
c.1515T>A (p.Leu505=)
c.1512T>A (p.Leu504=)
c.1287T>A (p.Leu429=)
n.2005T>A
n.2019T>A
2g.43875160T>CCA425908124ABCG8c.1503T>C (p.Leu501=)
c.1500T>C (p.Leu500=)
c.1515T>C (p.Leu505=)
c.1512T>C (p.Leu504=)
c.1287T>C (p.Leu429=)
n.2005T>C
n.2019T>C
 dbSNP
2g.43875160T>GCA425908125ABCG8c.1503T>G (p.Leu501=)
c.1500T>G (p.Leu500=)
c.1515T>G (p.Leu505=)
c.1512T>G (p.Leu504=)
c.1287T>G (p.Leu429=)
n.2005T>G
n.2019T>G
2g.43875160T=CA2493963594ABCG8c.1503T= (p.Leu501=)
c.1500T= (p.Leu500=)
c.1515T= (p.Leu505=)
c.1512T= (p.Leu504=)
c.1287T= (p.Leu429=)
n.2005T=
n.2019T=
2g.43875161C>ACA346670225ABCG8c.1504C>A (p.Pro502Thr)
c.1501C>A (p.Pro501Thr)
c.1516C>A (p.Pro506Thr)
c.1513C>A (p.Pro505Thr)
c.1288C>A (p.Pro430Thr)
n.2006C>A
n.2020C>A
2g.43875161C>GCA346670226ABCG8c.1504C>G (p.Pro502Ala)
c.1501C>G (p.Pro501Ala)
c.1516C>G (p.Pro506Ala)
c.1513C>G (p.Pro505Ala)
c.1288C>G (p.Pro430Ala)
n.2006C>G
n.2020C>G
2g.43875161C>TCA346670227ABCG8c.1504C>T (p.Pro502Ser)
c.1501C>T (p.Pro501Ser)
c.1516C>T (p.Pro506Ser)
c.1513C>T (p.Pro505Ser)
c.1288C>T (p.Pro430Ser)
n.2006C>T
n.2020C>T
2g.43875162C>ACA346670228ABCG8c.1505C>A (p.Pro502Gln)
c.1502C>A (p.Pro501Gln)
c.1517C>A (p.Pro506Gln)
c.1514C>A (p.Pro505Gln)
c.1289C>A (p.Pro430Gln)
n.2007C>A
n.2021C>A
 dbSNP gnomAD v4
2g.43875162C=CA2493963595ABCG8c.1505C= (p.Pro502=)
c.1502C= (p.Pro501=)
c.1517C= (p.Pro506=)
c.1514C= (p.Pro505=)
c.1289C= (p.Pro430=)
n.2007C=
n.2021C=
2g.43875162C>GCA346670229ABCG8c.1505C>G (p.Pro502Arg)
c.1502C>G (p.Pro501Arg)
c.1517C>G (p.Pro506Arg)
c.1514C>G (p.Pro505Arg)
c.1289C>G (p.Pro430Arg)
n.2007C>G
n.2021C>G
2g.43875162C>TCA1637531ABCG8c.1505C>T (p.Pro502Leu)
c.1502C>T (p.Pro501Leu)
c.1517C>T (p.Pro506Leu)
c.1514C>T (p.Pro505Leu)
c.1289C>T (p.Pro430Leu)
n.2007C>T
n.2021C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875163G>ACA1637532ABCG8c.1506G>A (p.Pro502=)
c.1503G>A (p.Pro501=)
c.1518G>A (p.Pro506=)
c.1515G>A (p.Pro505=)
c.1290G>A (p.Pro430=)
n.2008G>A
n.2022G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.43875163G>CCA425908126ABCG8c.1506G>C (p.Pro502=)
c.1503G>C (p.Pro501=)
c.1518G>C (p.Pro506=)
c.1515G>C (p.Pro505=)
c.1290G>C (p.Pro430=)
n.2008G>C
n.2022G>C
2g.43875163G=CA2493963596ABCG8c.1506G= (p.Pro502=)
c.1503G= (p.Pro501=)
c.1518G= (p.Pro506=)
c.1515G= (p.Pro505=)
c.1290G= (p.Pro430=)
n.2008G=
n.2022G=
2g.43875163G>TCA46470766ABCG8c.1506G>T (p.Pro502=)
c.1503G>T (p.Pro501=)
c.1518G>T (p.Pro506=)
c.1515G>T (p.Pro505=)
c.1290G>T (p.Pro430=)
n.2008G>T
n.2022G>T
 dbSNP
2g.43875164G>ACA46470786ABCG8c.1507G>A (p.Glu503Lys)
c.1504G>A (p.Glu502Lys)
c.1519G>A (p.Glu507Lys)
c.1516G>A (p.Glu506Lys)
c.1291G>A (p.Glu431Lys)
n.2009G>A
n.2023G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875164G>CCA346670230ABCG8c.1507G>C (p.Glu503Gln)
c.1504G>C (p.Glu502Gln)
c.1519G>C (p.Glu507Gln)
c.1516G>C (p.Glu506Gln)
c.1291G>C (p.Glu431Gln)
n.2009G>C
n.2023G>C
 gnomAD v4
2g.43875164G=CA2493963597ABCG8c.1507G= (p.Glu503=)
c.1504G= (p.Glu502=)
c.1519G= (p.Glu507=)
c.1516G= (p.Glu506=)
c.1291G= (p.Glu431=)
n.2009G=
n.2023G=
2g.43875164G>TCA346670231ABCG8c.1507G>T (p.Glu503Ter)
c.1504G>T (p.Glu502Ter)
c.1519G>T (p.Glu507Ter)
c.1516G>T (p.Glu506Ter)
c.1291G>T (p.Glu431Ter)
n.2009G>T
n.2023G>T
2g.43875165A=CA2493963598ABCG8c.1508A= (p.Glu503=)
c.1505A= (p.Glu502=)
c.1520A= (p.Glu507=)
c.1517A= (p.Glu506=)
c.1292A= (p.Glu431=)
n.2010A=
n.2024A=
2g.43875165A>CCA346670233ABCG8c.1508A>C (p.Glu503Ala)
c.1505A>C (p.Glu502Ala)
c.1520A>C (p.Glu507Ala)
c.1517A>C (p.Glu506Ala)
c.1292A>C (p.Glu431Ala)
n.2010A>C
n.2024A>C
2g.43875165A>GCA46470800ABCG8c.1508A>G (p.Glu503Gly)
c.1505A>G (p.Glu502Gly)
c.1520A>G (p.Glu507Gly)
c.1517A>G (p.Glu506Gly)
c.1292A>G (p.Glu431Gly)
n.2010A>G
n.2024A>G
 dbSNP
2g.43875165A>TCA346670232ABCG8c.1508A>T (p.Glu503Val)
c.1505A>T (p.Glu502Val)
c.1520A>T (p.Glu507Val)
c.1517A>T (p.Glu506Val)
c.1292A>T (p.Glu431Val)
n.2010A>T
n.2024A>T
2g.43875166G>ACA425908127ABCG8c.1509G>A (p.Glu503=)
c.1506G>A (p.Glu502=)
c.1521G>A (p.Glu507=)
c.1518G>A (p.Glu506=)
c.1293G>A (p.Glu431=)
n.2011G>A
n.2025G>A
2g.43875166G>CCA346670234ABCG8c.1509G>C (p.Glu503Asp)
c.1506G>C (p.Glu502Asp)
c.1521G>C (p.Glu507Asp)
c.1518G>C (p.Glu506Asp)
c.1293G>C (p.Glu431Asp)
n.2011G>C
n.2025G>C
 gnomAD v4
2g.43875166G>TCA346670235ABCG8c.1509G>T (p.Glu503Asp)
c.1506G>T (p.Glu502Asp)
c.1521G>T (p.Glu507Asp)
c.1518G>T (p.Glu506Asp)
c.1293G>T (p.Glu431Asp)
n.2011G>T
n.2025G>T
2g.43875167C>ACA346670236ABCG8c.1510C>A (p.His504Asn)
c.1507C>A (p.His503Asn)
c.1522C>A (p.His508Asn)
c.1519C>A (p.His507Asn)
c.1294C>A (p.His432Asn)
n.2012C>A
n.2026C>A
2g.43875167C>GCA346670237ABCG8c.1510C>G (p.His504Asp)
c.1507C>G (p.His503Asp)
c.1522C>G (p.His508Asp)
c.1519C>G (p.His507Asp)
c.1294C>G (p.His432Asp)
n.2012C>G
n.2026C>G
2g.43875167C>TCA346670238ABCG8c.1510C>T (p.His504Tyr)
c.1507C>T (p.His503Tyr)
c.1522C>T (p.His508Tyr)
c.1519C>T (p.His507Tyr)
c.1294C>T (p.His432Tyr)
n.2012C>T
n.2026C>T
2g.43875168A>CCA346670239ABCG8c.1511A>C (p.His504Pro)
c.1508A>C (p.His503Pro)
c.1523A>C (p.His508Pro)
c.1520A>C (p.His507Pro)
c.1295A>C (p.His432Pro)
n.2013A>C
n.2027A>C
 gnomAD v4
2g.43875168A>GCA346670240ABCG8c.1511A>G (p.His504Arg)
c.1508A>G (p.His503Arg)
c.1523A>G (p.His508Arg)
c.1520A>G (p.His507Arg)
c.1295A>G (p.His432Arg)
n.2013A>G
n.2027A>G
2g.43875168A>TCA346670241ABCG8c.1511A>T (p.His504Leu)
c.1508A>T (p.His503Leu)
c.1523A>T (p.His508Leu)
c.1520A>T (p.His507Leu)
c.1295A>T (p.His432Leu)
n.2013A>T
n.2027A>T
2g.43875169C>ACA346670242ABCG8c.1512C>A (p.His504Gln)
c.1509C>A (p.His503Gln)
c.1524C>A (p.His508Gln)
c.1521C>A (p.His507Gln)
c.1296C>A (p.His432Gln)
n.2014C>A
n.2028C>A
2g.43875169C>GCA346670243ABCG8c.1512C>G (p.His504Gln)
c.1509C>G (p.His503Gln)
c.1524C>G (p.His508Gln)
c.1521C>G (p.His507Gln)
c.1296C>G (p.His432Gln)
n.2014C>G
n.2028C>G
2g.43875169C>TCA425908128ABCG8c.1512C>T (p.His504=)
c.1509C>T (p.His503=)
c.1524C>T (p.His508=)
c.1521C>T (p.His507=)
c.1296C>T (p.His432=)
n.2014C>T
n.2028C>T
2g.43875170T>ACA346670244ABCG8c.1513T>A (p.Cys505Ser)
c.1510T>A (p.Cys504Ser)
c.1525T>A (p.Cys509Ser)
c.1522T>A (p.Cys508Ser)
c.1297T>A (p.Cys433Ser)
n.2015T>A
n.2029T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.43875170T>CCA46470811ABCG8c.1513T>C (p.Cys505Arg)
c.1510T>C (p.Cys504Arg)
c.1525T>C (p.Cys509Arg)
c.1522T>C (p.Cys508Arg)
c.1297T>C (p.Cys433Arg)
n.2015T>C
n.2029T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43875170T>GCA346670245ABCG8c.1513T>G (p.Cys505Gly)
c.1510T>G (p.Cys504Gly)
c.1525T>G (p.Cys509Gly)
c.1522T>G (p.Cys508Gly)
c.1297T>G (p.Cys433Gly)
n.2015T>G
n.2029T>G
2g.43875170T=CA2493963599ABCG8c.1513T= (p.Cys505=)
c.1510T= (p.Cys504=)
c.1525T= (p.Cys509=)
c.1522T= (p.Cys508=)
c.1297T= (p.Cys433=)
n.2015T=
n.2029T=
2g.43875171G>ACA346670247ABCG8c.1514G>A (p.Cys505Tyr)
c.1511G>A (p.Cys504Tyr)
c.1526G>A (p.Cys509Tyr)
c.1523G>A (p.Cys508Tyr)
c.1298G>A (p.Cys433Tyr)
n.2016G>A
n.2030G>A
 gnomAD v4
2g.43875171G>CCA346670248ABCG8c.1514G>C (p.Cys505Ser)
c.1511G>C (p.Cys504Ser)
c.1526G>C (p.Cys509Ser)
c.1523G>C (p.Cys508Ser)
c.1298G>C (p.Cys433Ser)
n.2016G>C
n.2030G>C
2g.43875171G>TCA346670246ABCG8c.1514G>T (p.Cys505Phe)
c.1511G>T (p.Cys504Phe)
c.1526G>T (p.Cys509Phe)
c.1523G>T (p.Cys508Phe)
c.1298G>T (p.Cys433Phe)
n.2016G>T
n.2030G>T
2g.43875172T>ACA346670249ABCG8c.1515T>A (p.Cys505Ter)
c.1512T>A (p.Cys504Ter)
c.1527T>A (p.Cys509Ter)
c.1524T>A (p.Cys508Ter)
c.1299T>A (p.Cys433Ter)
n.2017T>A
n.2031T>A
2g.43875172T>CCA425908129ABCG8c.1515T>C (p.Cys505=)
c.1512T>C (p.Cys504=)
c.1527T>C (p.Cys509=)
c.1524T>C (p.Cys508=)
c.1299T>C (p.Cys433=)
n.2017T>C
n.2031T>C
2g.43875172T>GCA346670250ABCG8c.1515T>G (p.Cys505Trp)
c.1512T>G (p.Cys504Trp)
c.1527T>G (p.Cys509Trp)
c.1524T>G (p.Cys508Trp)
c.1299T>G (p.Cys433Trp)
n.2017T>G
n.2031T>G
2g.43875173G>ACA346670251ABCG8c.1516G>A (p.Ala506Thr)
c.1513G>A (p.Ala505Thr)
c.1528G>A (p.Ala510Thr)
c.1525G>A (p.Ala509Thr)
c.1300G>A (p.Ala434Thr)
n.2018G>A
n.2032G>A
 gnomAD v4
2g.43875173G>CCA346670252ABCG8c.1516G>C (p.Ala506Pro)
c.1513G>C (p.Ala505Pro)
c.1528G>C (p.Ala510Pro)
c.1525G>C (p.Ala509Pro)
c.1300G>C (p.Ala434Pro)
n.2018G>C
n.2032G>C
2g.43875173G=CA2493963600ABCG8c.1516G= (p.Ala506=)
c.1513G= (p.Ala505=)
c.1528G= (p.Ala510=)
c.1525G= (p.Ala509=)
c.1300G= (p.Ala434=)
n.2018G=
n.2032G=
2g.43875173G>TCA1637533ABCG8c.1516G>T (p.Ala506Ser)
c.1513G>T (p.Ala505Ser)
c.1528G>T (p.Ala510Ser)
c.1525G>T (p.Ala509Ser)
c.1300G>T (p.Ala434Ser)
n.2018G>T
n.2032G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875174C>ACA346670253ABCG8c.1517C>A (p.Ala506Asp)
c.1514C>A (p.Ala505Asp)
c.1529C>A (p.Ala510Asp)
c.1526C>A (p.Ala509Asp)
c.1301C>A (p.Ala434Asp)
n.2019C>A
n.2033C>A
2g.43875174C=CA2493963601ABCG8c.1517C= (p.Ala506=)
c.1514C= (p.Ala505=)
c.1529C= (p.Ala510=)
c.1526C= (p.Ala509=)
c.1301C= (p.Ala434=)
n.2019C=
n.2033C=
2g.43875174C>GCA346670254ABCG8c.1517C>G (p.Ala506Gly)
c.1514C>G (p.Ala505Gly)
c.1529C>G (p.Ala510Gly)
c.1526C>G (p.Ala509Gly)
c.1301C>G (p.Ala434Gly)
n.2019C>G
n.2033C>G
2g.43875174C>TCA346670255ABCG8c.1517C>T (p.Ala506Val)
c.1514C>T (p.Ala505Val)
c.1529C>T (p.Ala510Val)
c.1526C>T (p.Ala509Val)
c.1301C>T (p.Ala434Val)
n.2019C>T
n.2033C>T
 dbSNP
2g.43875175C>ACA425908130ABCG8c.1518C>A (p.Ala506=)
c.1515C>A (p.Ala505=)
c.1530C>A (p.Ala510=)
c.1527C>A (p.Ala509=)
c.1302C>A (p.Ala434=)
n.2020C>A
n.2034C>A
 dbSNP gnomAD v3 gnomAD v4
2g.43875175C>GCA425908131ABCG8c.1518C>G (p.Ala506=)
c.1515C>G (p.Ala505=)
c.1530C>G (p.Ala510=)
c.1527C>G (p.Ala509=)
c.1302C>G (p.Ala434=)
n.2020C>G
n.2034C>G
2g.43875175C>TCA425908132ABCG8c.1518C>T (p.Ala506=)
c.1515C>T (p.Ala505=)
c.1530C>T (p.Ala510=)
c.1527C>T (p.Ala509=)
c.1302C>T (p.Ala434=)
n.2020C>T
n.2034C>T
 ClinVar
2g.43875176T>ACA346670256ABCG8c.1519T>A (p.Tyr507Asn)
c.1516T>A (p.Tyr506Asn)
c.1531T>A (p.Tyr511Asn)
c.1528T>A (p.Tyr510Asn)
c.1303T>A (p.Tyr435Asn)
n.2021T>A
n.2035T>A
2g.43875176T>CCA346670257ABCG8c.1519T>C (p.Tyr507His)
c.1516T>C (p.Tyr506His)
c.1531T>C (p.Tyr511His)
c.1528T>C (p.Tyr510His)
c.1303T>C (p.Tyr435His)
n.2021T>C
n.2035T>C
2g.43875176T>GCA346670258ABCG8c.1519T>G (p.Tyr507Asp)
c.1516T>G (p.Tyr506Asp)
c.1531T>G (p.Tyr511Asp)
c.1528T>G (p.Tyr510Asp)
c.1303T>G (p.Tyr435Asp)
n.2021T>G
n.2035T>G
2g.43875177A>CCA346670259ABCG8c.1520A>C (p.Tyr507Ser)
c.1517A>C (p.Tyr506Ser)
c.1532A>C (p.Tyr511Ser)
c.1529A>C (p.Tyr510Ser)
c.1304A>C (p.Tyr435Ser)
n.2022A>C
n.2036A>C
2g.43875177A>GCA346670260ABCG8c.1520A>G (p.Tyr507Cys)
c.1517A>G (p.Tyr506Cys)
c.1532A>G (p.Tyr511Cys)
c.1529A>G (p.Tyr510Cys)
c.1304A>G (p.Tyr435Cys)
n.2022A>G
n.2036A>G
2g.43875177A>TCA346670261ABCG8c.1520A>T (p.Tyr507Phe)
c.1517A>T (p.Tyr506Phe)
c.1532A>T (p.Tyr511Phe)
c.1529A>T (p.Tyr510Phe)
c.1304A>T (p.Tyr435Phe)
n.2022A>T
n.2036A>T
2g.43875178C>ACA346670262ABCG8c.1521C>A (p.Tyr507Ter)
c.1518C>A (p.Tyr506Ter)
c.1533C>A (p.Tyr511Ter)
c.1530C>A (p.Tyr510Ter)
c.1305C>A (p.Tyr435Ter)
n.2023C>A
n.2037C>A
2g.43875178C=CA2493963602ABCG8c.1521C= (p.Tyr507=)
c.1518C= (p.Tyr506=)
c.1533C= (p.Tyr511=)
c.1530C= (p.Tyr510=)
c.1305C= (p.Tyr435=)
n.2023C=
n.2037C=
2g.43875178C>GCA346670263ABCG8c.1521C>G (p.Tyr507Ter)
c.1518C>G (p.Tyr506Ter)
c.1533C>G (p.Tyr511Ter)
c.1530C>G (p.Tyr510Ter)
c.1305C>G (p.Tyr435Ter)
n.2023C>G
n.2037C>G
2g.43875178C>TCA425908133ABCG8c.1521C>T (p.Tyr507=)
c.1518C>T (p.Tyr506=)
c.1533C>T (p.Tyr511=)
c.1530C>T (p.Tyr510=)
c.1305C>T (p.Tyr435=)
n.2023C>T
n.2037C>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875185_43875187delCA2586969037ABCG8c.1528_1530del (p.Ile510del)
c.1525_1527del (p.Ile509del)
c.1540_1542del (p.Ile514del)
c.1537_1539del (p.Ile513del)
c.1312_1314del (p.Ile438del)
n.2030_2032del
n.2044_2046del
 gnomAD v4
2g.43875179A=CA2493963603ABCG8c.1522A= (p.Ile508=)
c.1519A= (p.Ile507=)
c.1534A= (p.Ile512=)
c.1531A= (p.Ile511=)
c.1306A= (p.Ile436=)
n.2024A=
n.2038A=
2g.43875179A>CCA346670264ABCG8c.1522A>C (p.Ile508Leu)
c.1519A>C (p.Ile507Leu)
c.1534A>C (p.Ile512Leu)
c.1531A>C (p.Ile511Leu)
c.1306A>C (p.Ile436Leu)
n.2024A>C
n.2038A>C
2g.43875179A>GCA346670265ABCG8c.1522A>G (p.Ile508Val)
c.1519A>G (p.Ile507Val)
c.1534A>G (p.Ile512Val)
c.1531A>G (p.Ile511Val)
c.1306A>G (p.Ile436Val)
n.2024A>G
n.2038A>G
 ClinVar dbSNP gnomAD v4
2g.43875179A>TCA346670266ABCG8c.1522A>T (p.Ile508Phe)
c.1519A>T (p.Ile507Phe)
c.1534A>T (p.Ile512Phe)
c.1531A>T (p.Ile511Phe)
c.1306A>T (p.Ile436Phe)
n.2024A>T
n.2038A>T
2g.43875180T>ACA346670267ABCG8c.1523T>A (p.Ile508Asn)
c.1520T>A (p.Ile507Asn)
c.1535T>A (p.Ile512Asn)
c.1532T>A (p.Ile511Asn)
c.1307T>A (p.Ile436Asn)
n.2025T>A
n.2039T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875180T>CCA346670268ABCG8c.1523T>C (p.Ile508Thr)
c.1520T>C (p.Ile507Thr)
c.1535T>C (p.Ile512Thr)
c.1532T>C (p.Ile511Thr)
c.1307T>C (p.Ile436Thr)
n.2025T>C
n.2039T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875180T>GCA346670269ABCG8c.1523T>G (p.Ile508Ser)
c.1520T>G (p.Ile507Ser)
c.1535T>G (p.Ile512Ser)
c.1532T>G (p.Ile511Ser)
c.1307T>G (p.Ile436Ser)
n.2025T>G
n.2039T>G
2g.43875180T=CA2493963604ABCG8c.1523T= (p.Ile508=)
c.1520T= (p.Ile507=)
c.1535T= (p.Ile512=)
c.1532T= (p.Ile511=)
c.1307T= (p.Ile436=)
n.2025T=
n.2039T=
2g.43875181C>ACA425908134ABCG8c.1524C>A (p.Ile508=)
c.1521C>A (p.Ile507=)
c.1536C>A (p.Ile512=)
c.1533C>A (p.Ile511=)
c.1308C>A (p.Ile436=)
n.2026C>A
n.2040C>A
2g.43875181C=CA2493963605ABCG8c.1524C= (p.Ile508=)
c.1521C= (p.Ile507=)
c.1536C= (p.Ile512=)
c.1533C= (p.Ile511=)
c.1308C= (p.Ile436=)
n.2026C=
n.2040C=
2g.43875181C>GCA346670270ABCG8c.1524C>G (p.Ile508Met)
c.1521C>G (p.Ile507Met)
c.1536C>G (p.Ile512Met)
c.1533C>G (p.Ile511Met)
c.1308C>G (p.Ile436Met)
n.2026C>G
n.2040C>G
2g.43875181C>TCA46470828ABCG8c.1524C>T (p.Ile508=)
c.1521C>T (p.Ile507=)
c.1536C>T (p.Ile512=)
c.1533C>T (p.Ile511=)
c.1308C>T (p.Ile436=)
n.2026C>T
n.2040C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.43875182A=CA2493963606ABCG8c.1525A= (p.Ile509=)
c.1522A= (p.Ile508=)
c.1537A= (p.Ile513=)
c.1534A= (p.Ile512=)
c.1309A= (p.Ile437=)
n.2027A=
n.2041A=
2g.43875182A>CCA346670271ABCG8c.1525A>C (p.Ile509Leu)
c.1522A>C (p.Ile508Leu)
c.1537A>C (p.Ile513Leu)
c.1534A>C (p.Ile512Leu)
c.1309A>C (p.Ile437Leu)
n.2027A>C
n.2041A>C
2g.43875182A>GCA346670272ABCG8c.1525A>G (p.Ile509Val)
c.1522A>G (p.Ile508Val)
c.1537A>G (p.Ile513Val)
c.1534A>G (p.Ile512Val)
c.1309A>G (p.Ile437Val)
n.2027A>G
n.2041A>G
 dbSNP gnomAD v4
2g.43875182A>TCA346670273ABCG8c.1525A>T (p.Ile509Phe)
c.1522A>T (p.Ile508Phe)
c.1537A>T (p.Ile513Phe)
c.1534A>T (p.Ile512Phe)
c.1309A>T (p.Ile437Phe)
n.2027A>T
n.2041A>T
2g.43875183T>ACA346670275ABCG8c.1526T>A (p.Ile509Asn)
c.1523T>A (p.Ile508Asn)
c.1538T>A (p.Ile513Asn)
c.1535T>A (p.Ile512Asn)
c.1310T>A (p.Ile437Asn)
n.2028T>A
n.2042T>A
2g.43875183T>CCA346670276ABCG8c.1526T>C (p.Ile509Thr)
c.1523T>C (p.Ile508Thr)
c.1538T>C (p.Ile513Thr)
c.1535T>C (p.Ile512Thr)
c.1310T>C (p.Ile437Thr)
n.2028T>C
n.2042T>C
 gnomAD v4
2g.43875183T>GCA346670274ABCG8c.1526T>G (p.Ile509Ser)
c.1523T>G (p.Ile508Ser)
c.1538T>G (p.Ile513Ser)
c.1535T>G (p.Ile512Ser)
c.1310T>G (p.Ile437Ser)
n.2028T>G
n.2042T>G
2g.43875184C>ACA425908135ABCG8c.1527C>A (p.Ile509=)
c.1524C>A (p.Ile508=)
c.1539C>A (p.Ile513=)
c.1536C>A (p.Ile512=)
c.1311C>A (p.Ile437=)
n.2029C>A
n.2043C>A
2g.43875184C=CA2493963607ABCG8c.1527C= (p.Ile509=)
c.1524C= (p.Ile508=)
c.1539C= (p.Ile513=)
c.1536C= (p.Ile512=)
c.1311C= (p.Ile437=)
n.2029C=
n.2043C=
2g.43875184C>GCA1637534ABCG8c.1527C>G (p.Ile509Met)
c.1524C>G (p.Ile508Met)
c.1539C>G (p.Ile513Met)
c.1536C>G (p.Ile512Met)
c.1311C>G (p.Ile437Met)
n.2029C>G
n.2043C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875184C>TCA425908136ABCG8c.1527C>T (p.Ile509=)
c.1524C>T (p.Ile508=)
c.1539C>T (p.Ile513=)
c.1536C>T (p.Ile512=)
c.1311C>T (p.Ile437=)
n.2029C>T
n.2043C>T
 gnomAD v4
2g.43875185A=CA2493963608ABCG8c.1528A= (p.Ile510=)
c.1525A= (p.Ile509=)
c.1540A= (p.Ile514=)
c.1537A= (p.Ile513=)
c.1312A= (p.Ile438=)
n.2030A=
n.2044A=
2g.43875185A>CCA346670277ABCG8c.1528A>C (p.Ile510Leu)
c.1525A>C (p.Ile509Leu)
c.1540A>C (p.Ile514Leu)
c.1537A>C (p.Ile513Leu)
c.1312A>C (p.Ile438Leu)
n.2030A>C
n.2044A>C
2g.43875185A>GCA346670278ABCG8c.1528A>G (p.Ile510Val)
c.1525A>G (p.Ile509Val)
c.1540A>G (p.Ile514Val)
c.1537A>G (p.Ile513Val)
c.1312A>G (p.Ile438Val)
n.2030A>G
n.2044A>G
 dbSNP gnomAD v3 gnomAD v4
2g.43875185A>TCA346670279ABCG8c.1528A>T (p.Ile510Phe)
c.1525A>T (p.Ile509Phe)
c.1540A>T (p.Ile514Phe)
c.1537A>T (p.Ile513Phe)
c.1312A>T (p.Ile438Phe)
n.2030A>T
n.2044A>T
2g.43875186T>ACA346670280ABCG8c.1529T>A (p.Ile510Asn)
c.1526T>A (p.Ile509Asn)
c.1541T>A (p.Ile514Asn)
c.1538T>A (p.Ile513Asn)
c.1313T>A (p.Ile438Asn)
n.2031T>A
n.2045T>A
2g.43875186T>CCA346670281ABCG8c.1529T>C (p.Ile510Thr)
c.1526T>C (p.Ile509Thr)
c.1541T>C (p.Ile514Thr)
c.1538T>C (p.Ile513Thr)
c.1313T>C (p.Ile438Thr)
n.2031T>C
n.2045T>C
2g.43875186T>GCA346670282ABCG8c.1529T>G (p.Ile510Ser)
c.1526T>G (p.Ile509Ser)
c.1541T>G (p.Ile514Ser)
c.1538T>G (p.Ile513Ser)
c.1313T>G (p.Ile438Ser)
n.2031T>G
n.2045T>G
2g.43875186dupCA2658831262ABCG8c.1529dup (p.Tyr511LeufsTer?)
c.1526dup (p.Tyr510LeufsTer?)
c.1541dup (p.Tyr515LeufsTer?)
c.1538dup (p.Tyr514LeufsTer?)
c.1313dup (p.Tyr439LeufsTer?)
n.2031dup
n.2045dup
 gnomAD v4
2g.43875187C>ACA425908137ABCG8c.1530C>A (p.Ile510=)
c.1527C>A (p.Ile509=)
c.1542C>A (p.Ile514=)
c.1539C>A (p.Ile513=)
c.1314C>A (p.Ile438=)
n.2032C>A
n.2046C>A
 ClinVar
2g.43875187C>GCA346670283ABCG8c.1530C>G (p.Ile510Met)
c.1527C>G (p.Ile509Met)
c.1542C>G (p.Ile514Met)
c.1539C>G (p.Ile513Met)
c.1314C>G (p.Ile438Met)
n.2032C>G
n.2046C>G
2g.43875187C>TCA425908138ABCG8c.1530C>T (p.Ile510=)
c.1527C>T (p.Ile509=)
c.1542C>T (p.Ile514=)
c.1539C>T (p.Ile513=)
c.1314C>T (p.Ile438=)
n.2032C>T
n.2046C>T
 gnomAD v4
2g.43875188T>ACA346670284ABCG8c.1531T>A (p.Tyr511Asn)
c.1528T>A (p.Tyr510Asn)
c.1543T>A (p.Tyr515Asn)
c.1540T>A (p.Tyr514Asn)
c.1315T>A (p.Tyr439Asn)
n.2033T>A
n.2047T>A
2g.43875188T>CCA346670285ABCG8c.1531T>C (p.Tyr511His)
c.1528T>C (p.Tyr510His)
c.1543T>C (p.Tyr515His)
c.1540T>C (p.Tyr514His)
c.1315T>C (p.Tyr439His)
n.2033T>C
n.2047T>C
 COSMIC
2g.43875188T>GCA346670286ABCG8c.1531T>G (p.Tyr511Asp)
c.1528T>G (p.Tyr510Asp)
c.1543T>G (p.Tyr515Asp)
c.1540T>G (p.Tyr514Asp)
c.1315T>G (p.Tyr439Asp)
n.2033T>G
n.2047T>G
2g.43875189A=CA2493963609ABCG8c.1532A= (p.Tyr511=)
c.1529A= (p.Tyr510=)
c.1544A= (p.Tyr515=)
c.1541A= (p.Tyr514=)
c.1316A= (p.Tyr439=)
n.2034A=
n.2048A=
2g.43875189A>CCA346670287ABCG8c.1532A>C (p.Tyr511Ser)
c.1529A>C (p.Tyr510Ser)
c.1544A>C (p.Tyr515Ser)
c.1541A>C (p.Tyr514Ser)
c.1316A>C (p.Tyr439Ser)
n.2034A>C
n.2048A>C
 dbSNP gnomAD v2 gnomAD v4
2g.43875189A>GCA346670288ABCG8c.1532A>G (p.Tyr511Cys)
c.1529A>G (p.Tyr510Cys)
c.1544A>G (p.Tyr515Cys)
c.1541A>G (p.Tyr514Cys)
c.1316A>G (p.Tyr439Cys)
n.2034A>G
n.2048A>G
 gnomAD v4
2g.43875189A>TCA346670289ABCG8c.1532A>T (p.Tyr511Phe)
c.1529A>T (p.Tyr510Phe)
c.1544A>T (p.Tyr515Phe)
c.1541A>T (p.Tyr514Phe)
c.1316A>T (p.Tyr439Phe)
n.2034A>T
n.2048A>T
2g.43875190C>ACA346670290ABCG8c.1533C>A (p.Tyr511Ter)
c.1530C>A (p.Tyr510Ter)
c.1545C>A (p.Tyr515Ter)
c.1542C>A (p.Tyr514Ter)
c.1317C>A (p.Tyr439Ter)
n.2035C>A
n.2049C>A
2g.43875190C=CA2493963610ABCG8c.1533C= (p.Tyr511=)
c.1530C= (p.Tyr510=)
c.1545C= (p.Tyr515=)
c.1542C= (p.Tyr514=)
c.1317C= (p.Tyr439=)
n.2035C=
n.2049C=
2g.43875190C>GCA346670291ABCG8c.1533C>G (p.Tyr511Ter)
c.1530C>G (p.Tyr510Ter)
c.1545C>G (p.Tyr515Ter)
c.1542C>G (p.Tyr514Ter)
c.1317C>G (p.Tyr439Ter)
n.2035C>G
n.2049C>G
 gnomAD v4
2g.43875190C>TCA1637535ABCG8c.1533C>T (p.Tyr511=)
c.1530C>T (p.Tyr510=)
c.1545C>T (p.Tyr515=)
c.1542C>T (p.Tyr514=)
c.1317C>T (p.Tyr439=)
n.2035C>T
n.2049C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875191G>ACA1637536ABCG8c.1534G>A (p.Gly512Arg)
c.1531G>A (p.Gly511Arg)
c.1546G>A (p.Gly516Arg)
c.1543G>A (p.Gly515Arg)
c.1318G>A (p.Gly440Arg)
n.2036G>A
n.2050G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875191G>CCA346670292ABCG8c.1534G>C (p.Gly512Arg)
c.1531G>C (p.Gly511Arg)
c.1546G>C (p.Gly516Arg)
c.1543G>C (p.Gly515Arg)
c.1318G>C (p.Gly440Arg)
n.2036G>C
n.2050G>C
 dbSNP gnomAD v2 gnomAD v4
2g.43875191G=CA2493963611ABCG8c.1534G= (p.Gly512=)
c.1531G= (p.Gly511=)
c.1546G= (p.Gly516=)
c.1543G= (p.Gly515=)
c.1318G= (p.Gly440=)
n.2036G=
n.2050G=
2g.43875191G>TCA346670293ABCG8c.1534G>T (p.Gly512Trp)
c.1531G>T (p.Gly511Trp)
c.1546G>T (p.Gly516Trp)
c.1543G>T (p.Gly515Trp)
c.1318G>T (p.Gly440Trp)
n.2036G>T
n.2050G>T
2g.43875192G>ACA346670294ABCG8c.1535G>A (p.Gly512Glu)
c.1532G>A (p.Gly511Glu)
c.1547G>A (p.Gly516Glu)
c.1544G>A (p.Gly515Glu)
c.1319G>A (p.Gly440Glu)
n.2037G>A
n.2051G>A
2g.43875192G>CCA346670295ABCG8c.1535G>C (p.Gly512Ala)
c.1532G>C (p.Gly511Ala)
c.1547G>C (p.Gly516Ala)
c.1544G>C (p.Gly515Ala)
c.1319G>C (p.Gly440Ala)
n.2037G>C
n.2051G>C
2g.43875192G>TCA346670296ABCG8c.1535G>T (p.Gly512Val)
c.1532G>T (p.Gly511Val)
c.1547G>T (p.Gly516Val)
c.1544G>T (p.Gly515Val)
c.1319G>T (p.Gly440Val)
n.2037G>T
n.2051G>T
2g.43875193G>ACA425908141ABCG8c.1536G>A (p.Gly512=)
c.1533G>A (p.Gly511=)
c.1548G>A (p.Gly516=)
c.1545G>A (p.Gly515=)
c.1320G>A (p.Gly440=)
n.2038G>A
n.2052G>A
2g.43875193G>CCA425908140ABCG8c.1536G>C (p.Gly512=)
c.1533G>C (p.Gly511=)
c.1548G>C (p.Gly516=)
c.1545G>C (p.Gly515=)
c.1320G>C (p.Gly440=)
n.2038G>C
n.2052G>C
2g.43875193G>TCA425908139ABCG8c.1536G>T (p.Gly512=)
c.1533G>T (p.Gly511=)
c.1548G>T (p.Gly516=)
c.1545G>T (p.Gly515=)
c.1320G>T (p.Gly440=)
n.2038G>T
n.2052G>T
2g.43875194A>CCA346670297ABCG8c.1537A>C (p.Met513Leu)
c.1534A>C (p.Met512Leu)
c.1549A>C (p.Met517Leu)
c.1546A>C (p.Met516Leu)
c.1321A>C (p.Met441Leu)
n.2039A>C
n.2053A>C
2g.43875194A>GCA346670298ABCG8c.1537A>G (p.Met513Val)
c.1534A>G (p.Met512Val)
c.1549A>G (p.Met517Val)
c.1546A>G (p.Met516Val)
c.1321A>G (p.Met441Val)
n.2039A>G
n.2053A>G
2g.43875194A>TCA346670299ABCG8c.1537A>T (p.Met513Leu)
c.1534A>T (p.Met512Leu)
c.1549A>T (p.Met517Leu)
c.1546A>T (p.Met516Leu)
c.1321A>T (p.Met441Leu)
n.2039A>T
n.2053A>T
 gnomAD v4
2g.43875195T>ACA346670300ABCG8c.1538T>A (p.Met513Lys)
c.1535T>A (p.Met512Lys)
c.1550T>A (p.Met517Lys)
c.1547T>A (p.Met516Lys)
c.1322T>A (p.Met441Lys)
n.2040T>A
n.2054T>A
2g.43875195T>CCA346670301ABCG8c.1538T>C (p.Met513Thr)
c.1535T>C (p.Met512Thr)
c.1550T>C (p.Met517Thr)
c.1547T>C (p.Met516Thr)
c.1322T>C (p.Met441Thr)
n.2040T>C
n.2054T>C
2g.43875195T>GCA346670302ABCG8c.1538T>G (p.Met513Arg)
c.1535T>G (p.Met512Arg)
c.1550T>G (p.Met517Arg)
c.1547T>G (p.Met516Arg)
c.1322T>G (p.Met441Arg)
n.2040T>G
n.2054T>G
2g.43875196G>ACA346670304ABCG8c.1539G>A (p.Met513Ile)
c.1536G>A (p.Met512Ile)
c.1551G>A (p.Met517Ile)
c.1548G>A (p.Met516Ile)
c.1323G>A (p.Met441Ile)
n.2041G>A
n.2055G>A
 ClinVar gnomAD v4
2g.43875196G>CCA346670305ABCG8c.1539G>C (p.Met513Ile)
c.1536G>C (p.Met512Ile)
c.1551G>C (p.Met517Ile)
c.1548G>C (p.Met516Ile)
c.1323G>C (p.Met441Ile)
n.2041G>C
n.2055G>C
2g.43875196G>TCA346670303ABCG8c.1539G>T (p.Met513Ile)
c.1536G>T (p.Met512Ile)
c.1551G>T (p.Met517Ile)
c.1548G>T (p.Met516Ile)
c.1323G>T (p.Met441Ile)
n.2041G>T
n.2055G>T
2g.43875197C>ACA346670307ABCG8c.1540C>A (p.Pro514Thr)
c.1537C>A (p.Pro513Thr)
c.1552C>A (p.Pro518Thr)
c.1549C>A (p.Pro517Thr)
c.1324C>A (p.Pro442Thr)
n.2042C>A
n.2056C>A
 ClinVar gnomAD v4
2g.43875197C>GCA346670306ABCG8c.1540C>G (p.Pro514Ala)
c.1537C>G (p.Pro513Ala)
c.1552C>G (p.Pro518Ala)
c.1549C>G (p.Pro517Ala)
c.1324C>G (p.Pro442Ala)
n.2042C>G
n.2056C>G
2g.43875197C>TCA346670308ABCG8c.1540C>T (p.Pro514Ser)
c.1537C>T (p.Pro513Ser)
c.1552C>T (p.Pro518Ser)
c.1549C>T (p.Pro517Ser)
c.1324C>T (p.Pro442Ser)
n.2042C>T
n.2056C>T
 ClinVar gnomAD v4
2g.43875198C>ACA346670309ABCG8c.1541C>A (p.Pro514His)
c.1538C>A (p.Pro513His)
c.1553C>A (p.Pro518His)
c.1550C>A (p.Pro517His)
c.1325C>A (p.Pro442His)
n.2043C>A
n.2057C>A
 gnomAD v4
2g.43875198C=CA2493963612ABCG8c.1541C= (p.Pro514=)
c.1538C= (p.Pro513=)
c.1553C= (p.Pro518=)
c.1550C= (p.Pro517=)
c.1325C= (p.Pro442=)
n.2043C=
n.2057C=
2g.43875198C>GCA346670310ABCG8c.1541C>G (p.Pro514Arg)
c.1538C>G (p.Pro513Arg)
c.1553C>G (p.Pro518Arg)
c.1550C>G (p.Pro517Arg)
c.1325C>G (p.Pro442Arg)
n.2043C>G
n.2057C>G
2g.43875198C>TCA46470850ABCG8c.1541C>T (p.Pro514Leu)
c.1538C>T (p.Pro513Leu)
c.1553C>T (p.Pro518Leu)
c.1550C>T (p.Pro517Leu)
c.1325C>T (p.Pro442Leu)
n.2043C>T
n.2057C>T
 dbSNP
2g.43875199C>ACA425908142ABCG8c.1542C>A (p.Pro514=)
c.1539C>A (p.Pro513=)
c.1554C>A (p.Pro518=)
c.1551C>A (p.Pro517=)
c.1326C>A (p.Pro442=)
n.2044C>A
n.2058C>A
2g.43875199C=CA2493963613ABCG8c.1542C= (p.Pro514=)
c.1539C= (p.Pro513=)
c.1554C= (p.Pro518=)
c.1551C= (p.Pro517=)
c.1326C= (p.Pro442=)
n.2044C=
n.2058C=
2g.43875199C>GCA425908143ABCG8c.1542C>G (p.Pro514=)
c.1539C>G (p.Pro513=)
c.1554C>G (p.Pro518=)
c.1551C>G (p.Pro517=)
c.1326C>G (p.Pro442=)
n.2044C>G
n.2058C>G
2g.43875199C>TCA1637537ABCG8c.1542C>T (p.Pro514=)
c.1539C>T (p.Pro513=)
c.1554C>T (p.Pro518=)
c.1551C>T (p.Pro517=)
c.1326C>T (p.Pro442=)
n.2044C>T
n.2058C>T
 dbSNP ExAC gnomAD v4 COSMIC
2g.43875200A=CA2493963614ABCG8c.1543A= (p.Thr515=)
c.1540A= (p.Thr514=)
c.1555A= (p.Thr519=)
c.1552A= (p.Thr518=)
c.1327A= (p.Thr443=)
n.2045A=
n.2059A=
2g.43875200A>CCA346670311ABCG8c.1543A>C (p.Thr515Pro)
c.1540A>C (p.Thr514Pro)
c.1555A>C (p.Thr519Pro)
c.1552A>C (p.Thr518Pro)
c.1327A>C (p.Thr443Pro)
n.2045A>C
n.2059A>C
 dbSNP
2g.43875200A>GCA346670312ABCG8c.1543A>G (p.Thr515Ala)
c.1540A>G (p.Thr514Ala)
c.1555A>G (p.Thr519Ala)
c.1552A>G (p.Thr518Ala)
c.1327A>G (p.Thr443Ala)
n.2045A>G
n.2059A>G
2g.43875200A>TCA346670313ABCG8c.1543A>T (p.Thr515Ser)
c.1540A>T (p.Thr514Ser)
c.1555A>T (p.Thr519Ser)
c.1552A>T (p.Thr518Ser)
c.1327A>T (p.Thr443Ser)
n.2045A>T
n.2059A>T
2g.43875201C>ACA346670314ABCG8c.1544C>A (p.Thr515Asn)
c.1541C>A (p.Thr514Asn)
c.1556C>A (p.Thr519Asn)
c.1553C>A (p.Thr518Asn)
c.1328C>A (p.Thr443Asn)
n.2046C>A
n.2060C>A
2g.43875201C=CA2493963615ABCG8c.1544C= (p.Thr515=)
c.1541C= (p.Thr514=)
c.1556C= (p.Thr519=)
c.1553C= (p.Thr518=)
c.1328C= (p.Thr443=)
n.2046C=
n.2060C=
2g.43875201C>GCA346670315ABCG8c.1544C>G (p.Thr515Ser)
c.1541C>G (p.Thr514Ser)
c.1556C>G (p.Thr519Ser)
c.1553C>G (p.Thr518Ser)
c.1328C>G (p.Thr443Ser)
n.2046C>G
n.2060C>G
2g.43875201C>TCA346670316ABCG8c.1544C>T (p.Thr515Ile)
c.1541C>T (p.Thr514Ile)
c.1556C>T (p.Thr519Ile)
c.1553C>T (p.Thr518Ile)
c.1328C>T (p.Thr443Ile)
n.2046C>T
n.2060C>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875202C>ACA425908144ABCG8c.1545C>A (p.Thr515=)
c.1542C>A (p.Thr514=)
c.1557C>A (p.Thr519=)
c.1554C>A (p.Thr518=)
c.1329C>A (p.Thr443=)
n.2047C>A
n.2061C>A
 dbSNP gnomAD v3 gnomAD v4
2g.43875202C=CA2493963616ABCG8c.1545C= (p.Thr515=)
c.1542C= (p.Thr514=)
c.1557C= (p.Thr519=)
c.1554C= (p.Thr518=)
c.1329C= (p.Thr443=)
n.2047C=
n.2061C=
2g.43875202C>GCA1637539ABCG8c.1545C>G (p.Thr515=)
c.1542C>G (p.Thr514=)
c.1557C>G (p.Thr519=)
c.1554C>G (p.Thr518=)
c.1329C>G (p.Thr443=)
n.2047C>G
n.2061C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875202C>TCA1637538ABCG8c.1545C>T (p.Thr515=)
c.1542C>T (p.Thr514=)
c.1557C>T (p.Thr519=)
c.1554C>T (p.Thr518=)
c.1329C>T (p.Thr443=)
n.2047C>T
n.2061C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875203T>ACA346670319ABCG8c.1546T>A (p.Tyr516Asn)
c.1543T>A (p.Tyr515Asn)
c.1558T>A (p.Tyr520Asn)
c.1555T>A (p.Tyr519Asn)
c.1330T>A (p.Tyr444Asn)
n.2048T>A
n.2062T>A
 gnomAD v4
2g.43875203T>CCA346670317ABCG8c.1546T>C (p.Tyr516His)
c.1543T>C (p.Tyr515His)
c.1558T>C (p.Tyr520His)
c.1555T>C (p.Tyr519His)
c.1330T>C (p.Tyr444His)
n.2048T>C
n.2062T>C
 gnomAD v4
2g.43875203T>GCA346670318ABCG8c.1546T>G (p.Tyr516Asp)
c.1543T>G (p.Tyr515Asp)
c.1558T>G (p.Tyr520Asp)
c.1555T>G (p.Tyr519Asp)
c.1330T>G (p.Tyr444Asp)
n.2048T>G
n.2062T>G
2g.43875204A=CA2493963617ABCG8c.1547A= (p.Tyr516=)
c.1544A= (p.Tyr515=)
c.1559A= (p.Tyr520=)
c.1556A= (p.Tyr519=)
c.1331A= (p.Tyr444=)
n.2049A=
n.2063A=
2g.43875204A>CCA346670320ABCG8c.1547A>C (p.Tyr516Ser)
c.1544A>C (p.Tyr515Ser)
c.1559A>C (p.Tyr520Ser)
c.1556A>C (p.Tyr519Ser)
c.1331A>C (p.Tyr444Ser)
n.2049A>C
n.2063A>C
 ClinVar dbSNP
2g.43875204A>GCA346670321ABCG8c.1547A>G (p.Tyr516Cys)
c.1544A>G (p.Tyr515Cys)
c.1559A>G (p.Tyr520Cys)
c.1556A>G (p.Tyr519Cys)
c.1331A>G (p.Tyr444Cys)
n.2049A>G
n.2063A>G
2g.43875204A>TCA346670322ABCG8c.1547A>T (p.Tyr516Phe)
c.1544A>T (p.Tyr515Phe)
c.1559A>T (p.Tyr520Phe)
c.1556A>T (p.Tyr519Phe)
c.1331A>T (p.Tyr444Phe)
n.2049A>T
n.2063A>T
2g.43875205C>ACA346670323ABCG8c.1548C>A (p.Tyr516Ter)
c.1545C>A (p.Tyr515Ter)
c.1560C>A (p.Tyr520Ter)
c.1557C>A (p.Tyr519Ter)
c.1332C>A (p.Tyr444Ter)
n.2050C>A
n.2064C>A
2g.43875205C=CA2493963618ABCG8c.1548C= (p.Tyr516=)
c.1545C= (p.Tyr515=)
c.1560C= (p.Tyr520=)
c.1557C= (p.Tyr519=)
c.1332C= (p.Tyr444=)
n.2050C=
n.2064C=
2g.43875205C>GCA346670324ABCG8c.1548C>G (p.Tyr516Ter)
c.1545C>G (p.Tyr515Ter)
c.1560C>G (p.Tyr520Ter)
c.1557C>G (p.Tyr519Ter)
c.1332C>G (p.Tyr444Ter)
n.2050C>G
n.2064C>G
 dbSNP
2g.43875205C>TCA426116340ABCG8c.1548C>T (p.Tyr516=)
c.1545C>T (p.Tyr515=)
c.1560C>T (p.Tyr520=)
c.1557C>T (p.Tyr519=)
c.1332C>T (p.Tyr444=)
n.2050C>T
n.2064C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43875206T>ACA346670325ABCG8c.1549T>A (p.Trp517Arg)
c.1546T>A (p.Trp516Arg)
c.1561T>A (p.Trp521Arg)
c.1558T>A (p.Trp520Arg)
c.1333T>A (p.Trp445Arg)
n.2051T>A
n.2065T>A
 gnomAD v4
2g.43875206T>CCA1637540ABCG8c.1549T>C (p.Trp517Arg)
c.1546T>C (p.Trp516Arg)
c.1561T>C (p.Trp521Arg)
c.1558T>C (p.Trp520Arg)
c.1333T>C (p.Trp445Arg)
n.2051T>C
n.2065T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875206T>GCA346670326ABCG8c.1549T>G (p.Trp517Gly)
c.1546T>G (p.Trp516Gly)
c.1561T>G (p.Trp521Gly)
c.1558T>G (p.Trp520Gly)
c.1333T>G (p.Trp445Gly)
n.2051T>G
n.2065T>G
2g.43875206T=CA2493963619ABCG8c.1549T= (p.Trp517=)
c.1546T= (p.Trp516=)
c.1561T= (p.Trp521=)
c.1558T= (p.Trp520=)
c.1333T= (p.Trp445=)
n.2051T=
n.2065T=
2g.43875207G>ACA346670327ABCG8c.1550G>A (p.Trp517Ter)
c.1547G>A (p.Trp516Ter)
c.1562G>A (p.Trp521Ter)
c.1559G>A (p.Trp520Ter)
c.1334G>A (p.Trp445Ter)
n.2052G>A
n.2066G>A
2g.43875207G>CCA346670328ABCG8c.1550G>C (p.Trp517Ser)
c.1547G>C (p.Trp516Ser)
c.1562G>C (p.Trp521Ser)
c.1559G>C (p.Trp520Ser)
c.1334G>C (p.Trp445Ser)
n.2052G>C
n.2066G>C
2g.43875207G>TCA346670329ABCG8c.1550G>T (p.Trp517Leu)
c.1547G>T (p.Trp516Leu)
c.1562G>T (p.Trp521Leu)
c.1559G>T (p.Trp520Leu)
c.1334G>T (p.Trp445Leu)
n.2052G>T
n.2066G>T
2g.43875208G>ACA346670331ABCG8c.1551G>A (p.Trp517Ter)
c.1548G>A (p.Trp516Ter)
c.1563G>A (p.Trp521Ter)
c.1560G>A (p.Trp520Ter)
c.1335G>A (p.Trp445Ter)
n.2053G>A
n.2067G>A
2g.43875208G>CCA346670332ABCG8c.1551G>C (p.Trp517Cys)
c.1548G>C (p.Trp516Cys)
c.1563G>C (p.Trp521Cys)
c.1560G>C (p.Trp520Cys)
c.1335G>C (p.Trp445Cys)
n.2053G>C
n.2067G>C
2g.43875208G>TCA346670330ABCG8c.1551G>T (p.Trp517Cys)
c.1548G>T (p.Trp516Cys)
c.1563G>T (p.Trp521Cys)
c.1560G>T (p.Trp520Cys)
c.1335G>T (p.Trp445Cys)
n.2053G>T
n.2067G>T
2g.43875209C>ACA346670333ABCG8c.1552C>A (p.Leu518Met)
c.1549C>A (p.Leu517Met)
c.1564C>A (p.Leu522Met)
c.1561C>A (p.Leu521Met)
c.1336C>A (p.Leu446Met)
n.2054C>A
n.2068C>A
2g.43875209C>GCA346670334ABCG8c.1552C>G (p.Leu518Val)
c.1549C>G (p.Leu517Val)
c.1564C>G (p.Leu522Val)
c.1561C>G (p.Leu521Val)
c.1336C>G (p.Leu446Val)
n.2054C>G
n.2068C>G
2g.43875209C>TCA426116341ABCG8c.1552C>T (p.Leu518=)
c.1549C>T (p.Leu517=)
c.1564C>T (p.Leu522=)
c.1561C>T (p.Leu521=)
c.1336C>T (p.Leu446=)
n.2054C>T
n.2068C>T
2g.43875210T>ACA346670335ABCG8c.1553T>A (p.Leu518Gln)
c.1550T>A (p.Leu517Gln)
c.1565T>A (p.Leu522Gln)
c.1562T>A (p.Leu521Gln)
c.1337T>A (p.Leu446Gln)
n.2055T>A
n.2069T>A
2g.43875210T>CCA346670336ABCG8c.1553T>C (p.Leu518Pro)
c.1550T>C (p.Leu517Pro)
c.1565T>C (p.Leu522Pro)
c.1562T>C (p.Leu521Pro)
c.1337T>C (p.Leu446Pro)
n.2055T>C
n.2069T>C
2g.43875210T>GCA346670337ABCG8c.1553T>G (p.Leu518Arg)
c.1550T>G (p.Leu517Arg)
c.1565T>G (p.Leu522Arg)
c.1562T>G (p.Leu521Arg)
c.1337T>G (p.Leu446Arg)
n.2055T>G
n.2069T>G
2g.43875210T=CA2493963620ABCG8c.1553T= (p.Leu518=)
c.1550T= (p.Leu517=)
c.1565T= (p.Leu522=)
c.1562T= (p.Leu521=)
c.1337T= (p.Leu446=)
n.2055T=
n.2069T=
2g.43875211G>ACA426116343ABCG8c.1554G>A (p.Leu518=)
c.1551G>A (p.Leu517=)
c.1566G>A (p.Leu522=)
c.1563G>A (p.Leu521=)
c.1338G>A (p.Leu446=)
n.2056G>A
n.2070G>A
2g.43875211G>CCA426116344ABCG8c.1554G>C (p.Leu518=)
c.1551G>C (p.Leu517=)
c.1566G>C (p.Leu522=)
c.1563G>C (p.Leu521=)
c.1338G>C (p.Leu446=)
n.2056G>C
n.2070G>C
2g.43875211G>TCA426116342ABCG8c.1554G>T (p.Leu518=)
c.1551G>T (p.Leu517=)
c.1566G>T (p.Leu522=)
c.1563G>T (p.Leu521=)
c.1338G>T (p.Leu446=)
n.2056G>T
n.2070G>T
 gnomAD v4
2g.43875212dupCA2493963621ABCG8c.1555dup (p.Ala519GlyfsTer?)
c.1552dup (p.Ala518GlyfsTer?)
c.1567dup (p.Ala523GlyfsTer?)
c.1564dup (p.Ala522GlyfsTer?)
c.1339dup (p.Ala447GlyfsTer?)
n.2057dup
n.2071dup
 dbSNP
2g.43875212G>ACA346670338ABCG8c.1555G>A (p.Ala519Thr)
c.1552G>A (p.Ala518Thr)
c.1567G>A (p.Ala523Thr)
c.1564G>A (p.Ala522Thr)
c.1339G>A (p.Ala447Thr)
n.2057G>A
n.2071G>A
2g.43875212G>CCA346670339ABCG8c.1555G>C (p.Ala519Pro)
c.1552G>C (p.Ala518Pro)
c.1567G>C (p.Ala523Pro)
c.1564G>C (p.Ala522Pro)
c.1339G>C (p.Ala447Pro)
n.2057G>C
n.2071G>C
2g.43875212G=CA2493963622ABCG8c.1555G= (p.Ala519=)
c.1552G= (p.Ala518=)
c.1567G= (p.Ala523=)
c.1564G= (p.Ala522=)
c.1339G= (p.Ala447=)
n.2057G=
n.2071G=
2g.43875212G>TCA346670340ABCG8c.1555G>T (p.Ala519Ser)
c.1552G>T (p.Ala518Ser)
c.1567G>T (p.Ala523Ser)
c.1564G>T (p.Ala522Ser)
c.1339G>T (p.Ala447Ser)
n.2057G>T
n.2071G>T
 ClinVar dbSNP gnomAD v4
2g.43875213C>ACA1637542ABCG8c.1556C>A (p.Ala519Asp)
c.1553C>A (p.Ala518Asp)
c.1568C>A (p.Ala523Asp)
c.1565C>A (p.Ala522Asp)
c.1340C>A (p.Ala447Asp)
n.2058C>A
n.2072C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875213C=CA2493963623ABCG8c.1556C= (p.Ala519=)
c.1553C= (p.Ala518=)
c.1568C= (p.Ala523=)
c.1565C= (p.Ala522=)
c.1340C= (p.Ala447=)
n.2058C=
n.2072C=
2g.43875213C>GCA1637541ABCG8c.1556C>G (p.Ala519Gly)
c.1553C>G (p.Ala518Gly)
c.1568C>G (p.Ala523Gly)
c.1565C>G (p.Ala522Gly)
c.1340C>G (p.Ala447Gly)
n.2058C>G
n.2072C>G
 dbSNP ExAC gnomAD v2
2g.43875213C>TCA346670341ABCG8c.1556C>T (p.Ala519Val)
c.1553C>T (p.Ala518Val)
c.1568C>T (p.Ala523Val)
c.1565C>T (p.Ala522Val)
c.1340C>T (p.Ala447Val)
n.2058C>T
n.2072C>T
 ClinVar dbSNP gnomAD v4
2g.43875214C>ACA426116345ABCG8c.1557C>A (p.Ala519=)
c.1554C>A (p.Ala518=)
c.1569C>A (p.Ala523=)
c.1566C>A (p.Ala522=)
c.1341C>A (p.Ala447=)
n.2059C>A
n.2073C>A
2g.43875214C=CA2493963624ABCG8c.1557C= (p.Ala519=)
c.1554C= (p.Ala518=)
c.1569C= (p.Ala523=)
c.1566C= (p.Ala522=)
c.1341C= (p.Ala447=)
n.2059C=
n.2073C=
2g.43875214C>GCA426116346ABCG8c.1557C>G (p.Ala519=)
c.1554C>G (p.Ala518=)
c.1569C>G (p.Ala523=)
c.1566C>G (p.Ala522=)
c.1341C>G (p.Ala447=)
n.2059C>G
n.2073C>G
 gnomAD v4
2g.43875214C>TCA1637543ABCG8c.1557C>T (p.Ala519=)
c.1554C>T (p.Ala518=)
c.1569C>T (p.Ala523=)
c.1566C>T (p.Ala522=)
c.1341C>T (p.Ala447=)
n.2059C>T
n.2073C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875215A=CA2493963625ABCG8c.1558A= (p.Asn520=)
c.1555A= (p.Asn519=)
c.1570A= (p.Asn524=)
c.1567A= (p.Asn523=)
c.1342A= (p.Asn448=)
n.2060A=
n.2074A=
2g.43875215A>CCA346670343ABCG8c.1558A>C (p.Asn520His)
c.1555A>C (p.Asn519His)
c.1570A>C (p.Asn524His)
c.1567A>C (p.Asn523His)
c.1342A>C (p.Asn448His)
n.2060A>C
n.2074A>C
 dbSNP
2g.43875215A>GCA346670344ABCG8c.1558A>G (p.Asn520Asp)
c.1555A>G (p.Asn519Asp)
c.1570A>G (p.Asn524Asp)
c.1567A>G (p.Asn523Asp)
c.1342A>G (p.Asn448Asp)
n.2060A>G
n.2074A>G
2g.43875215A>TCA346670342ABCG8c.1558A>T (p.Asn520Tyr)
c.1555A>T (p.Asn519Tyr)
c.1570A>T (p.Asn524Tyr)
c.1567A>T (p.Asn523Tyr)
c.1342A>T (p.Asn448Tyr)
n.2060A>T
n.2074A>T
2g.43875216A=CA2493963626ABCG8c.1559A= (p.Asn520=)
c.1556A= (p.Asn519=)
c.1571A= (p.Asn524=)
c.1568A= (p.Asn523=)
c.1343A= (p.Asn448=)
n.2061A=
n.2075A=
2g.43875216A>CCA346670345ABCG8c.1559A>C (p.Asn520Thr)
c.1556A>C (p.Asn519Thr)
c.1571A>C (p.Asn524Thr)
c.1568A>C (p.Asn523Thr)
c.1343A>C (p.Asn448Thr)
n.2061A>C
n.2075A>C
 ClinVar dbSNP gnomAD v4
2g.43875216A>GCA1637544ABCG8c.1559A>G (p.Asn520Ser)
c.1556A>G (p.Asn519Ser)
c.1571A>G (p.Asn524Ser)
c.1568A>G (p.Asn523Ser)
c.1343A>G (p.Asn448Ser)
n.2061A>G
n.2075A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875216A>TCA346670346ABCG8c.1559A>T (p.Asn520Ile)
c.1556A>T (p.Asn519Ile)
c.1571A>T (p.Asn524Ile)
c.1568A>T (p.Asn523Ile)
c.1343A>T (p.Asn448Ile)
n.2061A>T
n.2075A>T
2g.43875217C>ACA346670347ABCG8c.1560C>A (p.Asn520Lys)
c.1557C>A (p.Asn519Lys)
c.1572C>A (p.Asn524Lys)
c.1569C>A (p.Asn523Lys)
c.1344C>A (p.Asn448Lys)
n.2062C>A
n.2076C>A
 gnomAD v4
2g.43875217C=CA2493963627ABCG8c.1560C= (p.Asn520=)
c.1557C= (p.Asn519=)
c.1572C= (p.Asn524=)
c.1569C= (p.Asn523=)
c.1344C= (p.Asn448=)
n.2062C=
n.2076C=
2g.43875217C>GCA346670348ABCG8c.1560C>G (p.Asn520Lys)
c.1557C>G (p.Asn519Lys)
c.1572C>G (p.Asn524Lys)
c.1569C>G (p.Asn523Lys)
c.1344C>G (p.Asn448Lys)
n.2062C>G
n.2076C>G
2g.43875217C>TCA426116347ABCG8c.1560C>T (p.Asn520=)
c.1557C>T (p.Asn519=)
c.1572C>T (p.Asn524=)
c.1569C>T (p.Asn523=)
c.1344C>T (p.Asn448=)
n.2062C>T
n.2076C>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875218C>ACA346670349ABCG8c.1561C>A (p.Leu521Met)
c.1558C>A (p.Leu520Met)
c.1573C>A (p.Leu525Met)
c.1570C>A (p.Leu524Met)
c.1345C>A (p.Leu449Met)
n.2063C>A
n.2077C>A
2g.43875218C>GCA346670350ABCG8c.1561C>G (p.Leu521Val)
c.1558C>G (p.Leu520Val)
c.1573C>G (p.Leu525Val)
c.1570C>G (p.Leu524Val)
c.1345C>G (p.Leu449Val)
n.2063C>G
n.2077C>G
2g.43875218C>TCA426116348ABCG8c.1561C>T (p.Leu521=)
c.1558C>T (p.Leu520=)
c.1573C>T (p.Leu525=)
c.1570C>T (p.Leu524=)
c.1345C>T (p.Leu449=)
n.2063C>T
n.2077C>T
2g.43875219T>ACA346670351ABCG8c.1562T>A (p.Leu521Gln)
c.1559T>A (p.Leu520Gln)
c.1574T>A (p.Leu525Gln)
c.1571T>A (p.Leu524Gln)
c.1346T>A (p.Leu449Gln)
n.2064T>A
n.2078T>A
2g.43875219T>CCA346670353ABCG8c.1562T>C (p.Leu521Pro)
c.1559T>C (p.Leu520Pro)
c.1574T>C (p.Leu525Pro)
c.1571T>C (p.Leu524Pro)
c.1346T>C (p.Leu449Pro)
n.2064T>C
n.2078T>C
2g.43875219T>GCA346670352ABCG8c.1562T>G (p.Leu521Arg)
c.1559T>G (p.Leu520Arg)
c.1574T>G (p.Leu525Arg)
c.1571T>G (p.Leu524Arg)
c.1346T>G (p.Leu449Arg)
n.2064T>G
n.2078T>G
2g.43875220G>ACA426116349ABCG8c.1563G>A (p.Leu521=)
c.1560G>A (p.Leu520=)
c.1575G>A (p.Leu525=)
c.1572G>A (p.Leu524=)
c.1347G>A (p.Leu449=)
n.2065G>A
n.2079G>A
 COSMIC
2g.43875220G>CCA426116350ABCG8c.1563G>C (p.Leu521=)
c.1560G>C (p.Leu520=)
c.1575G>C (p.Leu525=)
c.1572G>C (p.Leu524=)
c.1347G>C (p.Leu449=)
n.2065G>C
n.2079G>C
2g.43875220G>TCA426116351ABCG8c.1563G>T (p.Leu521=)
c.1560G>T (p.Leu520=)
c.1575G>T (p.Leu525=)
c.1572G>T (p.Leu524=)
c.1347G>T (p.Leu449=)
n.2065G>T
n.2079G>T
2g.43875221A=CA2493963628ABCG8c.1564A= (p.Arg522=)
c.1561A= (p.Arg521=)
c.1576A= (p.Arg526=)
c.1573A= (p.Arg525=)
c.1348A= (p.Arg450=)
n.2066A=
n.2080A=
2g.43875221A>CCA426116352ABCG8c.1564A>C (p.Arg522=)
c.1561A>C (p.Arg521=)
c.1576A>C (p.Arg526=)
c.1573A>C (p.Arg525=)
c.1348A>C (p.Arg450=)
n.2066A>C
n.2080A>C
2g.43875221A>GCA1637545ABCG8c.1564A>G (p.Arg522Gly)
c.1561A>G (p.Arg521Gly)
c.1576A>G (p.Arg526Gly)
c.1573A>G (p.Arg525Gly)
c.1348A>G (p.Arg450Gly)
n.2066A>G
n.2080A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43875221A>TCA346670354ABCG8c.1564A>T (p.Arg522Trp)
c.1561A>T (p.Arg521Trp)
c.1576A>T (p.Arg526Trp)
c.1573A>T (p.Arg525Trp)
c.1348A>T (p.Arg450Trp)
n.2066A>T
n.2080A>T
 dbSNP
2g.43875222G>ACA346670355ABCG8c.1565G>A (p.Arg522Lys)
c.1562G>A (p.Arg521Lys)
c.1577G>A (p.Arg526Lys)
c.1574G>A (p.Arg525Lys)
c.1349G>A (p.Arg450Lys)
n.2067G>A
n.2081G>A
2g.43875222G>CCA346670356ABCG8c.1565G>C (p.Arg522Thr)
c.1562G>C (p.Arg521Thr)
c.1577G>C (p.Arg526Thr)
c.1574G>C (p.Arg525Thr)
c.1349G>C (p.Arg450Thr)
n.2067G>C
n.2081G>C
2g.43875222G>TCA346670357ABCG8c.1565G>T (p.Arg522Met)
c.1562G>T (p.Arg521Met)
c.1577G>T (p.Arg526Met)
c.1574G>T (p.Arg525Met)
c.1349G>T (p.Arg450Met)
n.2067G>T
n.2081G>T
2g.43875223delCA2658831264ABCG8c.1566del (p.Arg522SerfsTer?)
c.1563del (p.Arg521SerfsTer?)
c.1578del (p.Arg526SerfsTer?)
c.1575del (p.Arg525SerfsTer?)
c.1350del (p.Arg450SerfsTer?)
n.2068del
n.2082del
 gnomAD v4
2g.43875223G>ACA426116353ABCG8c.1566G>A (p.Arg522=)
c.1563G>A (p.Arg521=)
c.1578G>A (p.Arg526=)
c.1575G>A (p.Arg525=)
c.1350G>A (p.Arg450=)
n.2068G>A
n.2082G>A
2g.43875223G>CCA346670358ABCG8c.1566G>C (p.Arg522Ser)
c.1563G>C (p.Arg521Ser)
c.1578G>C (p.Arg526Ser)
c.1575G>C (p.Arg525Ser)
c.1350G>C (p.Arg450Ser)
n.2068G>C
n.2082G>C
 dbSNP
2g.43875223G=CA2493963629ABCG8c.1566G= (p.Arg522=)
c.1563G= (p.Arg521=)
c.1578G= (p.Arg526=)
c.1575G= (p.Arg525=)
c.1350G= (p.Arg450=)
n.2068G=
n.2082G=
2g.43875223G>TCA46470920ABCG8c.1566G>T (p.Arg522Ser)
c.1563G>T (p.Arg521Ser)
c.1578G>T (p.Arg526Ser)
c.1575G>T (p.Arg525Ser)
c.1350G>T (p.Arg450Ser)
n.2068G>T
n.2082G>T
 dbSNP gnomAD v2 gnomAD v4
2g.43875224C>ACA346670359ABCG8c.1567C>A (p.Pro523Thr)
c.1564C>A (p.Pro522Thr)
c.1579C>A (p.Pro527Thr)
c.1576C>A (p.Pro526Thr)
c.1351C>A (p.Pro451Thr)
n.2069C>A
n.2083C>A
2g.43875224C>GCA346670360ABCG8c.1567C>G (p.Pro523Ala)
c.1564C>G (p.Pro522Ala)
c.1579C>G (p.Pro527Ala)
c.1576C>G (p.Pro526Ala)
c.1351C>G (p.Pro451Ala)
n.2069C>G
n.2083C>G
 dbSNP gnomAD v4
2g.43875224C>TCA346670361ABCG8c.1567C>T (p.Pro523Ser)
c.1564C>T (p.Pro522Ser)
c.1579C>T (p.Pro527Ser)
c.1576C>T (p.Pro526Ser)
c.1351C>T (p.Pro451Ser)
n.2069C>T
n.2083C>T
 gnomAD v4 COSMIC
2g.43875225C>ACA346670362ABCG8c.1568C>A (p.Pro523Gln)
c.1565C>A (p.Pro522Gln)
c.1580C>A (p.Pro527Gln)
c.1577C>A (p.Pro526Gln)
c.1352C>A (p.Pro451Gln)
n.2070C>A
n.2084C>A
2g.43875225C=CA2493963630ABCG8c.1568C= (p.Pro523=)
c.1565C= (p.Pro522=)
c.1580C= (p.Pro527=)
c.1577C= (p.Pro526=)
c.1352C= (p.Pro451=)
n.2070C=
n.2084C=
2g.43875225C>GCA346670363ABCG8c.1568C>G (p.Pro523Arg)
c.1565C>G (p.Pro522Arg)
c.1580C>G (p.Pro527Arg)
c.1577C>G (p.Pro526Arg)
c.1352C>G (p.Pro451Arg)
n.2070C>G
n.2084C>G
2g.43875225C>TCA1637546ABCG8c.1568C>T (p.Pro523Leu)
c.1565C>T (p.Pro522Leu)
c.1580C>T (p.Pro527Leu)
c.1577C>T (p.Pro526Leu)
c.1352C>T (p.Pro451Leu)
n.2070C>T
n.2084C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875226A=CA2493963631ABCG8c.1569A= (p.Pro523=)
c.1566A= (p.Pro522=)
c.1581A= (p.Pro527=)
c.1578A= (p.Pro526=)
c.1353A= (p.Pro451=)
n.2071A=
n.2085A=
2g.43875226A>CCA426116354ABCG8c.1569A>C (p.Pro523=)
c.1566A>C (p.Pro522=)
c.1581A>C (p.Pro527=)
c.1578A>C (p.Pro526=)
c.1353A>C (p.Pro451=)
n.2071A>C
n.2085A>C
2g.43875226A>GCA1637547ABCG8c.1569A>G (p.Pro523=)
c.1566A>G (p.Pro522=)
c.1581A>G (p.Pro527=)
c.1578A>G (p.Pro526=)
c.1353A>G (p.Pro451=)
n.2071A>G
n.2085A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875226A>TCA426116355ABCG8c.1569A>T (p.Pro523=)
c.1566A>T (p.Pro522=)
c.1581A>T (p.Pro527=)
c.1578A>T (p.Pro526=)
c.1353A>T (p.Pro451=)
n.2071A>T
n.2085A>T
 gnomAD v4
2g.43875227G>ACA346670364ABCG8c.1570G>A (p.Gly524Ser)
c.1567G>A (p.Gly523Ser)
c.1582G>A (p.Gly528Ser)
c.1579G>A (p.Gly527Ser)
c.1354G>A (p.Gly452Ser)
n.2072G>A
n.2086G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43875227G>CCA1637548ABCG8c.1570G>C (p.Gly524Arg)
c.1567G>C (p.Gly523Arg)
c.1582G>C (p.Gly528Arg)
c.1579G>C (p.Gly527Arg)
c.1354G>C (p.Gly452Arg)
n.2072G>C
n.2086G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875227G=CA2493963632ABCG8c.1570G= (p.Gly524=)
c.1567G= (p.Gly523=)
c.1582G= (p.Gly528=)
c.1579G= (p.Gly527=)
c.1354G= (p.Gly452=)
n.2072G=
n.2086G=
2g.43875227G>TCA346670365ABCG8c.1570G>T (p.Gly524Cys)
c.1567G>T (p.Gly523Cys)
c.1582G>T (p.Gly528Cys)
c.1579G>T (p.Gly527Cys)
c.1354G>T (p.Gly452Cys)
n.2072G>T
n.2086G>T
2g.43875228G>ACA1637549ABCG8c.1571G>A (p.Gly524Asp)
c.1568G>A (p.Gly523Asp)
c.1583G>A (p.Gly528Asp)
c.1580G>A (p.Gly527Asp)
c.1355G>A (p.Gly452Asp)
n.2073G>A
n.2087G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43875228G>CCA346670366ABCG8c.1571G>C (p.Gly524Ala)
c.1568G>C (p.Gly523Ala)
c.1583G>C (p.Gly528Ala)
c.1580G>C (p.Gly527Ala)
c.1355G>C (p.Gly452Ala)
n.2073G>C
n.2087G>C
2g.43875228G=CA2493963633ABCG8c.1571G= (p.Gly524=)
c.1568G= (p.Gly523=)
c.1583G= (p.Gly528=)
c.1580G= (p.Gly527=)
c.1355G= (p.Gly452=)
n.2073G=
n.2087G=
2g.43875228G>TCA346670367ABCG8c.1571G>T (p.Gly524Val)
c.1568G>T (p.Gly523Val)
c.1583G>T (p.Gly528Val)
c.1580G>T (p.Gly527Val)
c.1355G>T (p.Gly452Val)
n.2073G>T
n.2087G>T
 gnomAD v4

Number of alleles fetched