Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.43877546_43877550delinsGCTGTCA2493964988ABCG8c.1757-15_1757-11delinsGCTGT (n.1757-15_1757-11delinsGCTGT)
c.1754-15_1754-11delinsGCTGT (n.1754-15_1754-11delinsGCTGT)
c.1769-15_1769-11delinsGCTGT (n.1769-15_1769-11delinsGCTGT)
c.1766-15_1766-11delinsGCTGT (n.1766-15_1766-11delinsGCTGT)
c.1541-15_1541-11delinsGCTGT (n.1541-15_1541-11delinsGCTGT)
n.2259-15_2259-11delinsGCTGT
n.2273-15_2273-11delinsGCTGT
2g.43877553_43877556delCA1637648ABCG8c.1757-8_1757-5del (n.1757-8_1757-5del)
c.1754-8_1754-5del (n.1754-8_1754-5del)
c.1769-8_1769-5del (n.1769-8_1769-5del)
c.1766-8_1766-5del (n.1766-8_1766-5del)
c.1541-8_1541-5del (n.1541-8_1541-5del)
n.2259-8_2259-5del
n.2273-8_2273-5del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877549G>ACA2576953924ABCG8c.1757-12G>A (n.1757-12G>A)
c.1754-12G>A (n.1754-12G>A)
c.1769-12G>A (n.1769-12G>A)
c.1766-12G>A (n.1766-12G>A)
c.1541-12G>A (n.1541-12G>A)
n.2259-12G>A
n.2273-12G>A
 gnomAD v4
2g.43877551C=CA2493964992ABCG8c.1757-10C= (n.1757-10C=)
c.1754-10C= (n.1754-10C=)
c.1769-10C= (n.1769-10C=)
c.1766-10C= (n.1766-10C=)
c.1541-10C= (n.1541-10C=)
n.2259-10C=
n.2273-10C=
2g.43877551C>TCA532288597ABCG8c.1757-10C>T (n.1757-10C>T)
c.1754-10C>T (n.1754-10C>T)
c.1769-10C>T (n.1769-10C>T)
c.1766-10C>T (n.1766-10C>T)
c.1541-10C>T (n.1541-10C>T)
n.2259-10C>T
n.2273-10C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877552T>GCA532288598ABCG8c.1757-9T>G (n.1757-9T>G)
c.1754-9T>G (n.1754-9T>G)
c.1769-9T>G (n.1769-9T>G)
c.1766-9T>G (n.1766-9T>G)
c.1541-9T>G (n.1541-9T>G)
n.2259-9T>G
n.2273-9T>G
 dbSNP gnomAD v2 gnomAD v4
2g.43877552T=CA2493964993ABCG8c.1757-9T= (n.1757-9T=)
c.1754-9T= (n.1754-9T=)
c.1769-9T= (n.1769-9T=)
c.1766-9T= (n.1766-9T=)
c.1541-9T= (n.1541-9T=)
n.2259-9T=
n.2273-9T=
2g.43877555C=CA2493964994ABCG8c.1757-6C= (n.1757-6C=)
c.1754-6C= (n.1754-6C=)
c.1769-6C= (n.1769-6C=)
c.1766-6C= (n.1766-6C=)
c.1541-6C= (n.1541-6C=)
n.2259-6C=
n.2273-6C=
2g.43877555C>GCA2658838069ABCG8c.1757-6C>G (n.1757-6C>G)
c.1754-6C>G (n.1754-6C>G)
c.1769-6C>G (n.1769-6C>G)
c.1766-6C>G (n.1766-6C>G)
c.1541-6C>G (n.1541-6C>G)
n.2259-6C>G
n.2273-6C>G
 gnomAD v4
2g.43877555C>TCA532288599ABCG8c.1757-6C>T (n.1757-6C>T)
c.1754-6C>T (n.1754-6C>T)
c.1769-6C>T (n.1769-6C>T)
c.1766-6C>T (n.1766-6C>T)
c.1541-6C>T (n.1541-6C>T)
n.2259-6C>T
n.2273-6C>T
 dbSNP gnomAD v2 gnomAD v4
2g.43877557C=CA2493964995ABCG8c.1757-4C= (n.1757-4C=)
c.1754-4C= (n.1754-4C=)
c.1769-4C= (n.1769-4C=)
c.1766-4C= (n.1766-4C=)
c.1541-4C= (n.1541-4C=)
n.2259-4C=
n.2273-4C=
2g.43877557C>GCA1637651ABCG8c.1757-4C>G (n.1757-4C>G)
c.1754-4C>G (n.1754-4C>G)
c.1769-4C>G (n.1769-4C>G)
c.1766-4C>G (n.1766-4C>G)
c.1541-4C>G (n.1541-4C>G)
n.2259-4C>G
n.2273-4C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877559A=CA2493964996ABCG8c.1757-2A= (n.1757-2A=)
c.1754-2A= (n.1754-2A=)
c.1769-2A= (n.1769-2A=)
c.1766-2A= (n.1766-2A=)
c.1541-2A= (n.1541-2A=)
n.2259-2A=
n.2273-2A=
2g.43877559A>CCA346670744ABCG8c.1757-2A>C (n.1757-2A>C)
c.1754-2A>C (n.1754-2A>C)
c.1769-2A>C (n.1769-2A>C)
c.1766-2A>C (n.1766-2A>C)
c.1541-2A>C (n.1541-2A>C)
n.2259-2A>C
n.2273-2A>C
2g.43877559A>GCA346670745ABCG8c.1757-2A>G (n.1757-2A>G)
c.1754-2A>G (n.1754-2A>G)
c.1769-2A>G (n.1769-2A>G)
c.1766-2A>G (n.1766-2A>G)
c.1541-2A>G (n.1541-2A>G)
n.2259-2A>G
n.2273-2A>G
 ClinVar dbSNP COSMIC
2g.43877559A>TCA346670746ABCG8c.1757-2A>T (n.1757-2A>T)
c.1754-2A>T (n.1754-2A>T)
c.1769-2A>T (n.1769-2A>T)
c.1766-2A>T (n.1766-2A>T)
c.1541-2A>T (n.1541-2A>T)
n.2259-2A>T
n.2273-2A>T
2g.43877560G>ACA346670747ABCG8c.1757-1G>A (n.1757-1G>A)
c.1754-1G>A (n.1754-1G>A)
c.1769-1G>A (n.1769-1G>A)
c.1766-1G>A (n.1766-1G>A)
c.1541-1G>A (n.1541-1G>A)
n.2259-1G>A
n.2273-1G>A
2g.43877560G>CCA1637653ABCG8c.1757-1G>C (n.1757-1G>C)
c.1754-1G>C (n.1754-1G>C)
c.1769-1G>C (n.1769-1G>C)
c.1766-1G>C (n.1766-1G>C)
c.1541-1G>C (n.1541-1G>C)
n.2259-1G>C
n.2273-1G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877560G=CA2493964997ABCG8c.1757-1G= (n.1757-1G=)
c.1754-1G= (n.1754-1G=)
c.1769-1G= (n.1769-1G=)
c.1766-1G= (n.1766-1G=)
c.1541-1G= (n.1541-1G=)
n.2259-1G=
n.2273-1G=
2g.43877560G>TCA1637652ABCG8c.1757-1G>T (n.1757-1G>T)
c.1754-1G>T (n.1754-1G>T)
c.1769-1G>T (n.1769-1G>T)
c.1766-1G>T (n.1766-1G>T)
c.1541-1G>T (n.1541-1G>T)
n.2259-1G>T
n.2273-1G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877561T>ACA346670748ABCG8c.1757T>A (p.Val586Glu)
c.1754T>A (p.Val585Glu)
c.1769T>A (p.Val590Glu)
c.1766T>A (p.Val589Glu)
c.1541T>A (p.Val514Glu)
n.2259T>A
n.2273T>A
 gnomAD v4
2g.43877561T>CCA346670749ABCG8c.1757T>C (p.Val586Ala)
c.1754T>C (p.Val585Ala)
c.1769T>C (p.Val590Ala)
c.1766T>C (p.Val589Ala)
c.1541T>C (p.Val514Ala)
n.2259T>C
n.2273T>C
2g.43877561T>GCA346670750ABCG8c.1757T>G (p.Val586Gly)
c.1754T>G (p.Val585Gly)
c.1769T>G (p.Val590Gly)
c.1766T>G (p.Val589Gly)
c.1541T>G (p.Val514Gly)
n.2259T>G
n.2273T>G
2g.43877562G>ACA425908149ABCG8c.1758G>A (p.Val586=)
c.1755G>A (p.Val585=)
c.1770G>A (p.Val590=)
c.1767G>A (p.Val589=)
c.1542G>A (p.Val514=)
n.2260G>A
n.2274G>A
2g.43877562G>CCA425908150ABCG8c.1758G>C (p.Val586=)
c.1755G>C (p.Val585=)
c.1770G>C (p.Val590=)
c.1767G>C (p.Val589=)
c.1542G>C (p.Val514=)
n.2260G>C
n.2274G>C
2g.43877562G>TCA425908151ABCG8c.1758G>T (p.Val586=)
c.1755G>T (p.Val585=)
c.1770G>T (p.Val590=)
c.1767G>T (p.Val589=)
c.1542G>T (p.Val514=)
n.2260G>T
n.2274G>T
2g.43877562_43877563delinsGCCA2493964998ABCG8c.1758_1759delinsGC (p.Val586=)
c.1755_1756delinsGC (p.Val585=)
c.1770_1771delinsGC (p.Val590=)
c.1767_1768delinsGC (p.Val589=)
c.1542_1543delinsGC (p.Val514=)
n.2260_2261delinsGC
n.2274_2275delinsGC
2g.43877563C>ACA346670751ABCG8c.1759C>A (p.Pro587Thr)
c.1756C>A (p.Pro586Thr)
c.1771C>A (p.Pro591Thr)
c.1768C>A (p.Pro590Thr)
c.1543C>A (p.Pro515Thr)
n.2261C>A
n.2275C>A
2g.43877563C=CA2493964999ABCG8c.1759C= (p.Pro587=)
c.1756C= (p.Pro586=)
c.1771C= (p.Pro591=)
c.1768C= (p.Pro590=)
c.1543C= (p.Pro515=)
n.2261C=
n.2275C=
2g.43877563C>GCA1637655ABCG8c.1759C>G (p.Pro587Ala)
c.1756C>G (p.Pro586Ala)
c.1771C>G (p.Pro591Ala)
c.1768C>G (p.Pro590Ala)
c.1543C>G (p.Pro515Ala)
n.2261C>G
n.2275C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877563C>TCA1637654ABCG8c.1759C>T (p.Pro587Ser)
c.1756C>T (p.Pro586Ser)
c.1771C>T (p.Pro591Ser)
c.1768C>T (p.Pro590Ser)
c.1543C>T (p.Pro515Ser)
n.2261C>T
n.2275C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877565delCA2493965000ABCG8c.1761del (p.Ala588ArgfsTer16)
c.1758del (p.Ala587ArgfsTer16)
c.1773del (p.Ala592ArgfsTer16)
c.1770del (p.Ala591ArgfsTer16)
c.1545del (p.Ala516ArgfsTer16)
n.2263del
n.2277del
 dbSNP
2g.43877564C>ACA1637656ABCG8c.1760C>A (p.Pro587His)
c.1757C>A (p.Pro586His)
c.1772C>A (p.Pro591His)
c.1769C>A (p.Pro590His)
c.1544C>A (p.Pro515His)
n.2262C>A
n.2276C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877564C=CA2493965001ABCG8c.1760C= (p.Pro587=)
c.1757C= (p.Pro586=)
c.1772C= (p.Pro591=)
c.1769C= (p.Pro590=)
c.1544C= (p.Pro515=)
n.2262C=
n.2276C=
2g.43877564C>GCA346670752ABCG8c.1760C>G (p.Pro587Arg)
c.1757C>G (p.Pro586Arg)
c.1772C>G (p.Pro591Arg)
c.1769C>G (p.Pro590Arg)
c.1544C>G (p.Pro515Arg)
n.2262C>G
n.2276C>G
2g.43877564C>TCA346670753ABCG8c.1760C>T (p.Pro587Leu)
c.1757C>T (p.Pro586Leu)
c.1772C>T (p.Pro591Leu)
c.1769C>T (p.Pro590Leu)
c.1544C>T (p.Pro515Leu)
n.2262C>T
n.2276C>T
 dbSNP gnomAD v3 gnomAD v4
2g.43877565C>ACA425908153ABCG8c.1761C>A (p.Pro587=)
c.1758C>A (p.Pro586=)
c.1773C>A (p.Pro591=)
c.1770C>A (p.Pro590=)
c.1545C>A (p.Pro515=)
n.2263C>A
n.2277C>A
 gnomAD v4
2g.43877565C=CA2493965002ABCG8c.1761C= (p.Pro587=)
c.1758C= (p.Pro586=)
c.1773C= (p.Pro591=)
c.1770C= (p.Pro590=)
c.1545C= (p.Pro515=)
n.2263C=
n.2277C=
2g.43877565C>GCA425908154ABCG8c.1761C>G (p.Pro587=)
c.1758C>G (p.Pro586=)
c.1773C>G (p.Pro591=)
c.1770C>G (p.Pro590=)
c.1545C>G (p.Pro515=)
n.2263C>G
n.2277C>G
2g.43877565C>TCA1637657ABCG8c.1761C>T (p.Pro587=)
c.1758C>T (p.Pro586=)
c.1773C>T (p.Pro591=)
c.1770C>T (p.Pro590=)
c.1545C>T (p.Pro515=)
n.2263C>T
n.2277C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877566G>ACA1637658ABCG8c.1762G>A (p.Ala588Thr)
c.1759G>A (p.Ala587Thr)
c.1774G>A (p.Ala592Thr)
c.1771G>A (p.Ala591Thr)
c.1546G>A (p.Ala516Thr)
n.2264G>A
n.2278G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877566G>CCA1637659ABCG8c.1762G>C (p.Ala588Pro)
c.1759G>C (p.Ala587Pro)
c.1774G>C (p.Ala592Pro)
c.1771G>C (p.Ala591Pro)
c.1546G>C (p.Ala516Pro)
n.2264G>C
n.2278G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877566G=CA2493965003ABCG8c.1762G= (p.Ala588=)
c.1759G= (p.Ala587=)
c.1774G= (p.Ala592=)
c.1771G= (p.Ala591=)
c.1546G= (p.Ala516=)
n.2264G=
n.2278G=
2g.43877566G>TCA346670754ABCG8c.1762G>T (p.Ala588Ser)
c.1759G>T (p.Ala587Ser)
c.1774G>T (p.Ala592Ser)
c.1771G>T (p.Ala591Ser)
c.1546G>T (p.Ala516Ser)
n.2264G>T
n.2278G>T
 gnomAD v4
2g.43877567C>ACA1637660ABCG8c.1763C>A (p.Ala588Glu)
c.1760C>A (p.Ala587Glu)
c.1775C>A (p.Ala592Glu)
c.1772C>A (p.Ala591Glu)
c.1547C>A (p.Ala516Glu)
n.2265C>A
n.2279C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877567C=CA2493965004ABCG8c.1763C= (p.Ala588=)
c.1760C= (p.Ala587=)
c.1775C= (p.Ala592=)
c.1772C= (p.Ala591=)
c.1547C= (p.Ala516=)
n.2265C=
n.2279C=
2g.43877567C>GCA346670756ABCG8c.1763C>G (p.Ala588Gly)
c.1760C>G (p.Ala587Gly)
c.1775C>G (p.Ala592Gly)
c.1772C>G (p.Ala591Gly)
c.1547C>G (p.Ala516Gly)
n.2265C>G
n.2279C>G
2g.43877567C>TCA346670755ABCG8c.1763C>T (p.Ala588Val)
c.1760C>T (p.Ala587Val)
c.1775C>T (p.Ala592Val)
c.1772C>T (p.Ala591Val)
c.1547C>T (p.Ala516Val)
n.2265C>T
n.2279C>T
 gnomAD v4
2g.43877568G>ACA1637661ABCG8c.1764G>A (p.Ala588=)
c.1761G>A (p.Ala587=)
c.1776G>A (p.Ala592=)
c.1773G>A (p.Ala591=)
c.1548G>A (p.Ala516=)
n.2266G>A
n.2280G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877568G>CCA425908155ABCG8c.1764G>C (p.Ala588=)
c.1761G>C (p.Ala587=)
c.1776G>C (p.Ala592=)
c.1773G>C (p.Ala591=)
c.1548G>C (p.Ala516=)
n.2266G>C
n.2280G>C
2g.43877568G=CA2493965005ABCG8c.1764G= (p.Ala588=)
c.1761G= (p.Ala587=)
c.1776G= (p.Ala592=)
c.1773G= (p.Ala591=)
c.1548G= (p.Ala516=)
n.2266G=
n.2280G=
2g.43877568G>TCA425908156ABCG8c.1764G>T (p.Ala588=)
c.1761G>T (p.Ala587=)
c.1776G>T (p.Ala592=)
c.1773G>T (p.Ala591=)
c.1548G>T (p.Ala516=)
n.2266G>T
n.2280G>T
2g.43877569T>ACA346670757ABCG8c.1765T>A (p.Trp589Arg)
c.1762T>A (p.Trp588Arg)
c.1777T>A (p.Trp593Arg)
c.1774T>A (p.Trp592Arg)
c.1549T>A (p.Trp517Arg)
n.2267T>A
n.2281T>A
2g.43877569T>CCA346670758ABCG8c.1765T>C (p.Trp589Arg)
c.1762T>C (p.Trp588Arg)
c.1777T>C (p.Trp593Arg)
c.1774T>C (p.Trp592Arg)
c.1549T>C (p.Trp517Arg)
n.2267T>C
n.2281T>C
2g.43877569T>GCA346670759ABCG8c.1765T>G (p.Trp589Gly)
c.1762T>G (p.Trp588Gly)
c.1777T>G (p.Trp593Gly)
c.1774T>G (p.Trp592Gly)
c.1549T>G (p.Trp517Gly)
n.2267T>G
n.2281T>G
2g.43877570G>ACA346670760ABCG8c.1766G>A (p.Trp589Ter)
c.1763G>A (p.Trp588Ter)
c.1778G>A (p.Trp593Ter)
c.1775G>A (p.Trp592Ter)
c.1550G>A (p.Trp517Ter)
n.2268G>A
n.2282G>A
2g.43877570G>CCA346670761ABCG8c.1766G>C (p.Trp589Ser)
c.1763G>C (p.Trp588Ser)
c.1778G>C (p.Trp593Ser)
c.1775G>C (p.Trp592Ser)
c.1550G>C (p.Trp517Ser)
n.2268G>C
n.2282G>C
2g.43877570G>TCA346670762ABCG8c.1766G>T (p.Trp589Leu)
c.1763G>T (p.Trp588Leu)
c.1778G>T (p.Trp593Leu)
c.1775G>T (p.Trp592Leu)
c.1550G>T (p.Trp517Leu)
n.2268G>T
n.2282G>T
2g.43877571G>ACA346670763ABCG8c.1767G>A (p.Trp589Ter)
c.1764G>A (p.Trp588Ter)
c.1779G>A (p.Trp593Ter)
c.1776G>A (p.Trp592Ter)
c.1551G>A (p.Trp517Ter)
n.2269G>A
n.2283G>A
2g.43877571G>CCA346670764ABCG8c.1767G>C (p.Trp589Cys)
c.1764G>C (p.Trp588Cys)
c.1779G>C (p.Trp593Cys)
c.1776G>C (p.Trp592Cys)
c.1551G>C (p.Trp517Cys)
n.2269G>C
n.2283G>C
2g.43877571G>TCA346670765ABCG8c.1767G>T (p.Trp589Cys)
c.1764G>T (p.Trp588Cys)
c.1779G>T (p.Trp593Cys)
c.1776G>T (p.Trp592Cys)
c.1551G>T (p.Trp517Cys)
n.2269G>T
n.2283G>T
2g.43877572A=CA2493965006ABCG8c.1768A= (p.Ile590=)
c.1765A= (p.Ile589=)
c.1780A= (p.Ile594=)
c.1777A= (p.Ile593=)
c.1552A= (p.Ile518=)
n.2270A=
n.2284A=
2g.43877572A>CCA1637662ABCG8c.1768A>C (p.Ile590Leu)
c.1765A>C (p.Ile589Leu)
c.1780A>C (p.Ile594Leu)
c.1777A>C (p.Ile593Leu)
c.1552A>C (p.Ile518Leu)
n.2270A>C
n.2284A>C
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.43877572A>GCA346670766ABCG8c.1768A>G (p.Ile590Val)
c.1765A>G (p.Ile589Val)
c.1780A>G (p.Ile594Val)
c.1777A>G (p.Ile593Val)
c.1552A>G (p.Ile518Val)
n.2270A>G
n.2284A>G
2g.43877572A>TCA346670767ABCG8c.1768A>T (p.Ile590Phe)
c.1765A>T (p.Ile589Phe)
c.1780A>T (p.Ile594Phe)
c.1777A>T (p.Ile593Phe)
c.1552A>T (p.Ile518Phe)
n.2270A>T
n.2284A>T
2g.43877573T>ACA346670769ABCG8c.1769T>A (p.Ile590Asn)
c.1766T>A (p.Ile589Asn)
c.1781T>A (p.Ile594Asn)
c.1778T>A (p.Ile593Asn)
c.1553T>A (p.Ile518Asn)
n.2271T>A
n.2285T>A
2g.43877573T>CCA346670770ABCG8c.1769T>C (p.Ile590Thr)
c.1766T>C (p.Ile589Thr)
c.1781T>C (p.Ile594Thr)
c.1778T>C (p.Ile593Thr)
c.1553T>C (p.Ile518Thr)
n.2271T>C
n.2285T>C
2g.43877573T>GCA346670768ABCG8c.1769T>G (p.Ile590Ser)
c.1766T>G (p.Ile589Ser)
c.1781T>G (p.Ile594Ser)
c.1778T>G (p.Ile593Ser)
c.1553T>G (p.Ile518Ser)
n.2271T>G
n.2285T>G
2g.43877574T>ACA425908157ABCG8c.1770T>A (p.Ile590=)
c.1767T>A (p.Ile589=)
c.1782T>A (p.Ile594=)
c.1779T>A (p.Ile593=)
c.1554T>A (p.Ile518=)
n.2272T>A
n.2286T>A
2g.43877574T>CCA425908158ABCG8c.1770T>C (p.Ile590=)
c.1767T>C (p.Ile589=)
c.1782T>C (p.Ile594=)
c.1779T>C (p.Ile593=)
c.1554T>C (p.Ile518=)
n.2272T>C
n.2286T>C
2g.43877574T>GCA346670771ABCG8c.1770T>G (p.Ile590Met)
c.1767T>G (p.Ile589Met)
c.1782T>G (p.Ile594Met)
c.1779T>G (p.Ile593Met)
c.1554T>G (p.Ile518Met)
n.2272T>G
n.2286T>G
2g.43877575T>ACA346670772ABCG8c.1771T>A (p.Ser591Thr)
c.1768T>A (p.Ser590Thr)
c.1783T>A (p.Ser595Thr)
c.1780T>A (p.Ser594Thr)
c.1555T>A (p.Ser519Thr)
n.2273T>A
n.2287T>A
2g.43877575T>CCA346670773ABCG8c.1771T>C (p.Ser591Pro)
c.1768T>C (p.Ser590Pro)
c.1783T>C (p.Ser595Pro)
c.1780T>C (p.Ser594Pro)
c.1555T>C (p.Ser519Pro)
n.2273T>C
n.2287T>C
2g.43877575T>GCA346670774ABCG8c.1771T>G (p.Ser591Ala)
c.1768T>G (p.Ser590Ala)
c.1783T>G (p.Ser595Ala)
c.1780T>G (p.Ser594Ala)
c.1555T>G (p.Ser519Ala)
n.2273T>G
n.2287T>G
2g.43877575T=CA2493965007ABCG8c.1771T= (p.Ser591=)
c.1768T= (p.Ser590=)
c.1783T= (p.Ser595=)
c.1780T= (p.Ser594=)
c.1555T= (p.Ser519=)
n.2273T=
n.2287T=
2g.43877576C>ACA346670775ABCG8c.1772C>A (p.Ser591Tyr)
c.1769C>A (p.Ser590Tyr)
c.1784C>A (p.Ser595Tyr)
c.1781C>A (p.Ser594Tyr)
c.1556C>A (p.Ser519Tyr)
n.2274C>A
n.2288C>A
2g.43877576C=CA2493965008ABCG8c.1772C= (p.Ser591=)
c.1769C= (p.Ser590=)
c.1784C= (p.Ser595=)
c.1781C= (p.Ser594=)
c.1556C= (p.Ser519=)
n.2274C=
n.2288C=
2g.43877576C>GCA346670776ABCG8c.1772C>G (p.Ser591Cys)
c.1769C>G (p.Ser590Cys)
c.1784C>G (p.Ser595Cys)
c.1781C>G (p.Ser594Cys)
c.1556C>G (p.Ser519Cys)
n.2274C>G
n.2288C>G
2g.43877576C>TCA346670777ABCG8c.1772C>T (p.Ser591Phe)
c.1769C>T (p.Ser590Phe)
c.1784C>T (p.Ser595Phe)
c.1781C>T (p.Ser594Phe)
c.1556C>T (p.Ser519Phe)
n.2274C>T
n.2288C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877576_43877577dupCA2493965009ABCG8c.1772_1773dup (p.Lys592ProfsTer13)
c.1769_1770dup (p.Lys591ProfsTer13)
c.1784_1785dup (p.Lys596ProfsTer13)
c.1781_1782dup (p.Lys595ProfsTer13)
c.1556_1557dup (p.Lys520ProfsTer13)
n.2274_2275dup
n.2288_2289dup
 dbSNP
2g.43877577C>ACA425908159ABCG8c.1773C>A (p.Ser591=)
c.1770C>A (p.Ser590=)
c.1785C>A (p.Ser595=)
c.1782C>A (p.Ser594=)
c.1557C>A (p.Ser519=)
n.2275C>A
n.2289C>A
2g.43877577C>GCA425908160ABCG8c.1773C>G (p.Ser591=)
c.1770C>G (p.Ser590=)
c.1785C>G (p.Ser595=)
c.1782C>G (p.Ser594=)
c.1557C>G (p.Ser519=)
n.2275C>G
n.2289C>G
2g.43877577C>TCA425908161ABCG8c.1773C>T (p.Ser591=)
c.1770C>T (p.Ser590=)
c.1785C>T (p.Ser595=)
c.1782C>T (p.Ser594=)
c.1557C>T (p.Ser519=)
n.2275C>T
n.2289C>T
 gnomAD v4
2g.43877578A=CA2493965010ABCG8c.1774A= (p.Lys592=)
c.1771A= (p.Lys591=)
c.1786A= (p.Lys596=)
c.1783A= (p.Lys595=)
c.1558A= (p.Lys520=)
n.2276A=
n.2290A=
2g.43877578A>CCA346670778ABCG8c.1774A>C (p.Lys592Gln)
c.1771A>C (p.Lys591Gln)
c.1786A>C (p.Lys596Gln)
c.1783A>C (p.Lys595Gln)
c.1558A>C (p.Lys520Gln)
n.2276A>C
n.2290A>C
2g.43877578A>GCA346670779ABCG8c.1774A>G (p.Lys592Glu)
c.1771A>G (p.Lys591Glu)
c.1786A>G (p.Lys596Glu)
c.1783A>G (p.Lys595Glu)
c.1558A>G (p.Lys520Glu)
n.2276A>G
n.2290A>G
 dbSNP gnomAD v3 gnomAD v4
2g.43877578A>TCA346670780ABCG8c.1774A>T (p.Lys592Ter)
c.1771A>T (p.Lys591Ter)
c.1786A>T (p.Lys596Ter)
c.1783A>T (p.Lys595Ter)
c.1558A>T (p.Lys520Ter)
n.2276A>T
n.2290A>T
2g.43877579A=CA2493965011ABCG8c.1775A= (p.Lys592=)
c.1772A= (p.Lys591=)
c.1787A= (p.Lys596=)
c.1784A= (p.Lys595=)
c.1559A= (p.Lys520=)
n.2277A=
n.2291A=
2g.43877579A>CCA346670781ABCG8c.1775A>C (p.Lys592Thr)
c.1772A>C (p.Lys591Thr)
c.1787A>C (p.Lys596Thr)
c.1784A>C (p.Lys595Thr)
c.1559A>C (p.Lys520Thr)
n.2277A>C
n.2291A>C
2g.43877579A>GCA346670782ABCG8c.1775A>G (p.Lys592Arg)
c.1772A>G (p.Lys591Arg)
c.1787A>G (p.Lys596Arg)
c.1784A>G (p.Lys595Arg)
c.1559A>G (p.Lys520Arg)
n.2277A>G
n.2291A>G
2g.43877579A>TCA346670783ABCG8c.1775A>T (p.Lys592Ile)
c.1772A>T (p.Lys591Ile)
c.1787A>T (p.Lys596Ile)
c.1784A>T (p.Lys595Ile)
c.1559A>T (p.Lys520Ile)
n.2277A>T
n.2291A>T
 dbSNP
2g.43877580A>CCA346670784ABCG8c.1776A>C (p.Lys592Asn)
c.1773A>C (p.Lys591Asn)
c.1788A>C (p.Lys596Asn)
c.1785A>C (p.Lys595Asn)
c.1560A>C (p.Lys520Asn)
n.2278A>C
n.2292A>C
2g.43877580A>GCA425908162ABCG8c.1776A>G (p.Lys592=)
c.1773A>G (p.Lys591=)
c.1788A>G (p.Lys596=)
c.1785A>G (p.Lys595=)
c.1560A>G (p.Lys520=)
n.2278A>G
n.2292A>G
2g.43877580A>TCA346670785ABCG8c.1776A>T (p.Lys592Asn)
c.1773A>T (p.Lys591Asn)
c.1788A>T (p.Lys596Asn)
c.1785A>T (p.Lys595Asn)
c.1560A>T (p.Lys520Asn)
n.2278A>T
n.2292A>T
2g.43877581G>ACA346670786ABCG8c.1777G>A (p.Val593Met)
c.1774G>A (p.Val592Met)
c.1789G>A (p.Val597Met)
c.1786G>A (p.Val596Met)
c.1561G>A (p.Val521Met)
n.2279G>A
n.2293G>A
2g.43877581G>CCA346670787ABCG8c.1777G>C (p.Val593Leu)
c.1774G>C (p.Val592Leu)
c.1789G>C (p.Val597Leu)
c.1786G>C (p.Val596Leu)
c.1561G>C (p.Val521Leu)
n.2279G>C
n.2293G>C
2g.43877581G=CA2493965012ABCG8c.1777G= (p.Val593=)
c.1774G= (p.Val592=)
c.1789G= (p.Val597=)
c.1786G= (p.Val596=)
c.1561G= (p.Val521=)
n.2279G=
n.2293G=
2g.43877581G>TCA346670788ABCG8c.1777G>T (p.Val593Leu)
c.1774G>T (p.Val592Leu)
c.1789G>T (p.Val597Leu)
c.1786G>T (p.Val596Leu)
c.1561G>T (p.Val521Leu)
n.2279G>T
n.2293G>T
 dbSNP
2g.43877582T>ACA346670789ABCG8c.1778T>A (p.Val593Glu)
c.1775T>A (p.Val592Glu)
c.1790T>A (p.Val597Glu)
c.1787T>A (p.Val596Glu)
c.1562T>A (p.Val521Glu)
n.2280T>A
n.2294T>A
2g.43877582T>CCA346670790ABCG8c.1778T>C (p.Val593Ala)
c.1775T>C (p.Val592Ala)
c.1790T>C (p.Val597Ala)
c.1787T>C (p.Val596Ala)
c.1562T>C (p.Val521Ala)
n.2280T>C
n.2294T>C
2g.43877582T>GCA346670791ABCG8c.1778T>G (p.Val593Gly)
c.1775T>G (p.Val592Gly)
c.1790T>G (p.Val597Gly)
c.1787T>G (p.Val596Gly)
c.1562T>G (p.Val521Gly)
n.2280T>G
n.2294T>G
 gnomAD v4
2g.43877583G>ACA425908163ABCG8c.1779G>A (p.Val593=)
c.1776G>A (p.Val592=)
c.1791G>A (p.Val597=)
c.1788G>A (p.Val596=)
c.1563G>A (p.Val521=)
n.2281G>A
n.2295G>A
2g.43877583G>CCA425908164ABCG8c.1779G>C (p.Val593=)
c.1776G>C (p.Val592=)
c.1791G>C (p.Val597=)
c.1788G>C (p.Val596=)
c.1563G>C (p.Val521=)
n.2281G>C
n.2295G>C
 dbSNP
2g.43877583G=CA2493965013ABCG8c.1779G= (p.Val593=)
c.1776G= (p.Val592=)
c.1791G= (p.Val597=)
c.1788G= (p.Val596=)
c.1563G= (p.Val521=)
n.2281G=
n.2295G=
2g.43877583G>TCA425908165ABCG8c.1779G>T (p.Val593=)
c.1776G>T (p.Val592=)
c.1791G>T (p.Val597=)
c.1788G>T (p.Val596=)
c.1563G>T (p.Val521=)
n.2281G>T
n.2295G>T
2g.43877584T>ACA346670792ABCG8c.1780T>A (p.Ser594Thr)
c.1777T>A (p.Ser593Thr)
c.1792T>A (p.Ser598Thr)
c.1789T>A (p.Ser597Thr)
c.1564T>A (p.Ser522Thr)
n.2282T>A
n.2296T>A
2g.43877584T>CCA346670793ABCG8c.1780T>C (p.Ser594Pro)
c.1777T>C (p.Ser593Pro)
c.1792T>C (p.Ser598Pro)
c.1789T>C (p.Ser597Pro)
c.1564T>C (p.Ser522Pro)
n.2282T>C
n.2296T>C
2g.43877584T>GCA346670794ABCG8c.1780T>G (p.Ser594Ala)
c.1777T>G (p.Ser593Ala)
c.1792T>G (p.Ser598Ala)
c.1789T>G (p.Ser597Ala)
c.1564T>G (p.Ser522Ala)
n.2282T>G
n.2296T>G
2g.43877585C>ACA346670795ABCG8c.1781C>A (p.Ser594Tyr)
c.1778C>A (p.Ser593Tyr)
c.1793C>A (p.Ser598Tyr)
c.1790C>A (p.Ser597Tyr)
c.1565C>A (p.Ser522Tyr)
n.2283C>A
n.2297C>A
 dbSNP
2g.43877585C=CA2493965014ABCG8c.1781C= (p.Ser594=)
c.1778C= (p.Ser593=)
c.1793C= (p.Ser598=)
c.1790C= (p.Ser597=)
c.1565C= (p.Ser522=)
n.2283C=
n.2297C=
2g.43877585C>GCA346670796ABCG8c.1781C>G (p.Ser594Cys)
c.1778C>G (p.Ser593Cys)
c.1793C>G (p.Ser598Cys)
c.1790C>G (p.Ser597Cys)
c.1565C>G (p.Ser522Cys)
n.2283C>G
n.2297C>G
2g.43877585C>TCA346670797ABCG8c.1781C>T (p.Ser594Phe)
c.1778C>T (p.Ser593Phe)
c.1793C>T (p.Ser598Phe)
c.1790C>T (p.Ser597Phe)
c.1565C>T (p.Ser522Phe)
n.2283C>T
n.2297C>T
2g.43877586C>ACA1637664ABCG8c.1782C>A (p.Ser594=)
c.1779C>A (p.Ser593=)
c.1794C>A (p.Ser598=)
c.1791C>A (p.Ser597=)
c.1566C>A (p.Ser522=)
n.2284C>A
n.2298C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877586C=CA2493965015ABCG8c.1782C= (p.Ser594=)
c.1779C= (p.Ser593=)
c.1794C= (p.Ser598=)
c.1791C= (p.Ser597=)
c.1566C= (p.Ser522=)
n.2284C=
n.2298C=
2g.43877586C>GCA425908166ABCG8c.1782C>G (p.Ser594=)
c.1779C>G (p.Ser593=)
c.1794C>G (p.Ser598=)
c.1791C>G (p.Ser597=)
c.1566C>G (p.Ser522=)
n.2284C>G
n.2298C>G
2g.43877586C>TCA1637663ABCG8c.1782C>T (p.Ser594=)
c.1779C>T (p.Ser593=)
c.1794C>T (p.Ser598=)
c.1791C>T (p.Ser597=)
c.1566C>T (p.Ser522=)
n.2284C>T
n.2298C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877587T>ACA346670798ABCG8c.1783T>A (p.Phe595Ile)
c.1780T>A (p.Phe594Ile)
c.1795T>A (p.Phe599Ile)
c.1792T>A (p.Phe598Ile)
c.1567T>A (p.Phe523Ile)
n.2285T>A
n.2299T>A
2g.43877587T>CCA346670800ABCG8c.1783T>C (p.Phe595Leu)
c.1780T>C (p.Phe594Leu)
c.1795T>C (p.Phe599Leu)
c.1792T>C (p.Phe598Leu)
c.1567T>C (p.Phe523Leu)
n.2285T>C
n.2299T>C
2g.43877587T>GCA346670799ABCG8c.1783T>G (p.Phe595Val)
c.1780T>G (p.Phe594Val)
c.1795T>G (p.Phe599Val)
c.1792T>G (p.Phe598Val)
c.1567T>G (p.Phe523Val)
n.2285T>G
n.2299T>G
2g.43877588T>ACA346670801ABCG8c.1784T>A (p.Phe595Tyr)
c.1781T>A (p.Phe594Tyr)
c.1796T>A (p.Phe599Tyr)
c.1793T>A (p.Phe598Tyr)
c.1568T>A (p.Phe523Tyr)
n.2286T>A
n.2300T>A
2g.43877588T>CCA346670803ABCG8c.1784T>C (p.Phe595Ser)
c.1781T>C (p.Phe594Ser)
c.1796T>C (p.Phe599Ser)
c.1793T>C (p.Phe598Ser)
c.1568T>C (p.Phe523Ser)
n.2286T>C
n.2300T>C
2g.43877588T>GCA346670802ABCG8c.1784T>G (p.Phe595Cys)
c.1781T>G (p.Phe594Cys)
c.1796T>G (p.Phe599Cys)
c.1793T>G (p.Phe598Cys)
c.1568T>G (p.Phe523Cys)
n.2286T>G
n.2300T>G
2g.43877589C>ACA346670804ABCG8c.1785C>A (p.Phe595Leu)
c.1782C>A (p.Phe594Leu)
c.1797C>A (p.Phe599Leu)
c.1794C>A (p.Phe598Leu)
c.1569C>A (p.Phe523Leu)
n.2287C>A
n.2301C>A
2g.43877589C=CA2493965016ABCG8c.1785C= (p.Phe595=)
c.1782C= (p.Phe594=)
c.1797C= (p.Phe599=)
c.1794C= (p.Phe598=)
c.1569C= (p.Phe523=)
n.2287C=
n.2301C=
2g.43877589C>GCA346670805ABCG8c.1785C>G (p.Phe595Leu)
c.1782C>G (p.Phe594Leu)
c.1797C>G (p.Phe599Leu)
c.1794C>G (p.Phe598Leu)
c.1569C>G (p.Phe523Leu)
n.2287C>G
n.2301C>G
2g.43877589C>TCA1637665ABCG8c.1785C>T (p.Phe595=)
c.1782C>T (p.Phe594=)
c.1797C>T (p.Phe599=)
c.1794C>T (p.Phe598=)
c.1569C>T (p.Phe523=)
n.2287C>T
n.2301C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877590C>ACA346670806ABCG8c.1786C>A (p.Leu596Met)
c.1783C>A (p.Leu595Met)
c.1798C>A (p.Leu600Met)
c.1795C>A (p.Leu599Met)
c.1570C>A (p.Leu524Met)
n.2288C>A
n.2302C>A
2g.43877590C>GCA346670807ABCG8c.1786C>G (p.Leu596Val)
c.1783C>G (p.Leu595Val)
c.1798C>G (p.Leu600Val)
c.1795C>G (p.Leu599Val)
c.1570C>G (p.Leu524Val)
n.2288C>G
n.2302C>G
2g.43877590C>TCA425908168ABCG8c.1786C>T (p.Leu596=)
c.1783C>T (p.Leu595=)
c.1798C>T (p.Leu600=)
c.1795C>T (p.Leu599=)
c.1570C>T (p.Leu524=)
n.2288C>T
n.2302C>T
 gnomAD v4 COSMIC
2g.43877591T>ACA346670808ABCG8c.1787T>A (p.Leu596Gln)
c.1784T>A (p.Leu595Gln)
c.1799T>A (p.Leu600Gln)
c.1796T>A (p.Leu599Gln)
c.1571T>A (p.Leu524Gln)
n.2289T>A
n.2303T>A
 gnomAD v4
2g.43877591T>CCA346670809ABCG8c.1787T>C (p.Leu596Pro)
c.1784T>C (p.Leu595Pro)
c.1799T>C (p.Leu600Pro)
c.1796T>C (p.Leu599Pro)
c.1571T>C (p.Leu524Pro)
n.2289T>C
n.2303T>C
2g.43877591T>GCA253368ABCG8c.1787T>G (p.Leu596Arg)
c.1784T>G (p.Leu595Arg)
c.1799T>G (p.Leu600Arg)
c.1796T>G (p.Leu599Arg)
c.1571T>G (p.Leu524Arg)
n.2289T>G
n.2303T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877591T=CA2493965017ABCG8c.1787T= (p.Leu596=)
c.1784T= (p.Leu595=)
c.1799T= (p.Leu600=)
c.1796T= (p.Leu599=)
c.1571T= (p.Leu524=)
n.2289T=
n.2303T=
2g.43877592G>ACA425908170ABCG8c.1788G>A (p.Leu596=)
c.1785G>A (p.Leu595=)
c.1800G>A (p.Leu600=)
c.1797G>A (p.Leu599=)
c.1572G>A (p.Leu524=)
n.2290G>A
n.2304G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877592G>CCA425908171ABCG8c.1788G>C (p.Leu596=)
c.1785G>C (p.Leu595=)
c.1800G>C (p.Leu600=)
c.1797G>C (p.Leu599=)
c.1572G>C (p.Leu524=)
n.2290G>C
n.2304G>C
2g.43877592G=CA2493965018ABCG8c.1788G= (p.Leu596=)
c.1785G= (p.Leu595=)
c.1800G= (p.Leu600=)
c.1797G= (p.Leu599=)
c.1572G= (p.Leu524=)
n.2290G=
n.2304G=
2g.43877592G>TCA425908169ABCG8c.1788G>T (p.Leu596=)
c.1785G>T (p.Leu595=)
c.1800G>T (p.Leu600=)
c.1797G>T (p.Leu599=)
c.1572G>T (p.Leu524=)
n.2290G>T
n.2304G>T
2g.43877593C>ACA46474130ABCG8c.1789C>A (p.Arg597=)
c.1786C>A (p.Arg596=)
c.1801C>A (p.Arg601=)
c.1798C>A (p.Arg600=)
c.1573C>A (p.Arg525=)
n.2291C>A
n.2305C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877593C=CA2493965019ABCG8c.1789C= (p.Arg597=)
c.1786C= (p.Arg596=)
c.1801C= (p.Arg601=)
c.1798C= (p.Arg600=)
c.1573C= (p.Arg525=)
n.2291C=
n.2305C=
2g.43877593C>GCA346670810ABCG8c.1789C>G (p.Arg597Gly)
c.1786C>G (p.Arg596Gly)
c.1801C>G (p.Arg601Gly)
c.1798C>G (p.Arg600Gly)
c.1573C>G (p.Arg525Gly)
n.2291C>G
n.2305C>G
2g.43877593C>TCA1637666ABCG8c.1789C>T (p.Arg597Trp)
c.1786C>T (p.Arg596Trp)
c.1801C>T (p.Arg601Trp)
c.1798C>T (p.Arg600Trp)
c.1573C>T (p.Arg525Trp)
n.2291C>T
n.2305C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.43877594G>ACA1637667ABCG8c.1790G>A (p.Arg597Gln)
c.1787G>A (p.Arg596Gln)
c.1802G>A (p.Arg601Gln)
c.1799G>A (p.Arg600Gln)
c.1574G>A (p.Arg525Gln)
n.2292G>A
n.2306G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.43877594G>CCA346670811ABCG8c.1790G>C (p.Arg597Pro)
c.1787G>C (p.Arg596Pro)
c.1802G>C (p.Arg601Pro)
c.1799G>C (p.Arg600Pro)
c.1574G>C (p.Arg525Pro)
n.2292G>C
n.2306G>C
 gnomAD v4
2g.43877594G=CA2493965020ABCG8c.1790G= (p.Arg597=)
c.1787G= (p.Arg596=)
c.1802G= (p.Arg601=)
c.1799G= (p.Arg600=)
c.1574G= (p.Arg525=)
n.2292G=
n.2306G=
2g.43877594G>TCA346670812ABCG8c.1790G>T (p.Arg597Leu)
c.1787G>T (p.Arg596Leu)
c.1802G>T (p.Arg601Leu)
c.1799G>T (p.Arg600Leu)
c.1574G>T (p.Arg525Leu)
n.2292G>T
n.2306G>T
2g.43877595delCA2658838070ABCG8c.1791del (p.Trp598GlyfsTer6)
c.1788del (p.Trp597GlyfsTer6)
c.1803del (p.Trp602GlyfsTer6)
c.1800del (p.Trp601GlyfsTer6)
c.1575del (p.Trp526GlyfsTer6)
n.2293del
n.2307del
 gnomAD v4
2g.43877595G>ACA425908175ABCG8c.1791G>A (p.Arg597=)
c.1788G>A (p.Arg596=)
c.1803G>A (p.Arg601=)
c.1800G>A (p.Arg600=)
c.1575G>A (p.Arg525=)
n.2293G>A
n.2307G>A
 gnomAD v4
2g.43877595G>CCA1637668ABCG8c.1791G>C (p.Arg597=)
c.1788G>C (p.Arg596=)
c.1803G>C (p.Arg601=)
c.1800G>C (p.Arg600=)
c.1575G>C (p.Arg525=)
n.2293G>C
n.2307G>C
 dbSNP ExAC gnomAD v4
2g.43877595G=CA2493965021ABCG8c.1791G= (p.Arg597=)
c.1788G= (p.Arg596=)
c.1803G= (p.Arg601=)
c.1800G= (p.Arg600=)
c.1575G= (p.Arg525=)
n.2293G=
n.2307G=
2g.43877595G>TCA425908173ABCG8c.1791G>T (p.Arg597=)
c.1788G>T (p.Arg596=)
c.1803G>T (p.Arg601=)
c.1800G>T (p.Arg600=)
c.1575G>T (p.Arg525=)
n.2293G>T
n.2307G>T
2g.43877596T>ACA346670813ABCG8c.1792T>A (p.Trp598Arg)
c.1789T>A (p.Trp597Arg)
c.1804T>A (p.Trp602Arg)
c.1801T>A (p.Trp601Arg)
c.1576T>A (p.Trp526Arg)
n.2294T>A
n.2308T>A
2g.43877596T>CCA346670814ABCG8c.1792T>C (p.Trp598Arg)
c.1789T>C (p.Trp597Arg)
c.1804T>C (p.Trp602Arg)
c.1801T>C (p.Trp601Arg)
c.1576T>C (p.Trp526Arg)
n.2294T>C
n.2308T>C
 ClinVar
2g.43877596T>GCA346670815ABCG8c.1792T>G (p.Trp598Gly)
c.1789T>G (p.Trp597Gly)
c.1804T>G (p.Trp602Gly)
c.1801T>G (p.Trp601Gly)
c.1576T>G (p.Trp526Gly)
n.2294T>G
n.2308T>G
 gnomAD v4
2g.43877597G>ACA346670816ABCG8c.1793G>A (p.Trp598Ter)
c.1790G>A (p.Trp597Ter)
c.1805G>A (p.Trp602Ter)
c.1802G>A (p.Trp601Ter)
c.1577G>A (p.Trp526Ter)
n.2295G>A
n.2309G>A
2g.43877597G>CCA346670817ABCG8c.1793G>C (p.Trp598Ser)
c.1790G>C (p.Trp597Ser)
c.1805G>C (p.Trp602Ser)
c.1802G>C (p.Trp601Ser)
c.1577G>C (p.Trp526Ser)
n.2295G>C
n.2309G>C
2g.43877597G>TCA346670818ABCG8c.1793G>T (p.Trp598Leu)
c.1790G>T (p.Trp597Leu)
c.1805G>T (p.Trp602Leu)
c.1802G>T (p.Trp601Leu)
c.1577G>T (p.Trp526Leu)
n.2295G>T
n.2309G>T
2g.43877598G>ACA346670819ABCG8c.1794G>A (p.Trp598Ter)
c.1791G>A (p.Trp597Ter)
c.1806G>A (p.Trp602Ter)
c.1803G>A (p.Trp601Ter)
c.1578G>A (p.Trp526Ter)
n.2296G>A
n.2310G>A
 gnomAD v4
2g.43877598G>CCA46474190ABCG8c.1794G>C (p.Trp598Cys)
c.1791G>C (p.Trp597Cys)
c.1806G>C (p.Trp602Cys)
c.1803G>C (p.Trp601Cys)
c.1578G>C (p.Trp526Cys)
n.2296G>C
n.2310G>C
 dbSNP gnomAD v4
2g.43877598G=CA2493965022ABCG8c.1794G= (p.Trp598=)
c.1791G= (p.Trp597=)
c.1806G= (p.Trp602=)
c.1803G= (p.Trp601=)
c.1578G= (p.Trp526=)
n.2296G=
n.2310G=
2g.43877598G>TCA346670820ABCG8c.1794G>T (p.Trp598Cys)
c.1791G>T (p.Trp597Cys)
c.1806G>T (p.Trp602Cys)
c.1803G>T (p.Trp601Cys)
c.1578G>T (p.Trp526Cys)
n.2296G>T
n.2310G>T
2g.43877600_43877601delCA2658838071ABCG8c.1796_1797del (p.Cys599PhefsTer2)
c.1793_1794del (p.Cys598PhefsTer2)
c.1808_1809del (p.Cys603PhefsTer2)
c.1805_1806del (p.Cys602PhefsTer2)
c.1580_1581del (p.Cys527PhefsTer2)
n.2298_2299del
n.2312_2313del
 gnomAD v4
2g.43877599T>ACA346670821ABCG8c.1795T>A (p.Cys599Ser)
c.1792T>A (p.Cys598Ser)
c.1807T>A (p.Cys603Ser)
c.1804T>A (p.Cys602Ser)
c.1579T>A (p.Cys527Ser)
n.2297T>A
n.2311T>A
2g.43877599T>CCA346670822ABCG8c.1795T>C (p.Cys599Arg)
c.1792T>C (p.Cys598Arg)
c.1807T>C (p.Cys603Arg)
c.1804T>C (p.Cys602Arg)
c.1579T>C (p.Cys527Arg)
n.2297T>C
n.2311T>C
2g.43877599T>GCA346670823ABCG8c.1795T>G (p.Cys599Gly)
c.1792T>G (p.Cys598Gly)
c.1807T>G (p.Cys603Gly)
c.1804T>G (p.Cys602Gly)
c.1579T>G (p.Cys527Gly)
n.2297T>G
n.2311T>G
2g.43877600G>ACA346670826ABCG8c.1796G>A (p.Cys599Tyr)
c.1793G>A (p.Cys598Tyr)
c.1808G>A (p.Cys603Tyr)
c.1805G>A (p.Cys602Tyr)
c.1580G>A (p.Cys527Tyr)
n.2298G>A
n.2312G>A
2g.43877600G>CCA346670825ABCG8c.1796G>C (p.Cys599Ser)
c.1793G>C (p.Cys598Ser)
c.1808G>C (p.Cys603Ser)
c.1805G>C (p.Cys602Ser)
c.1580G>C (p.Cys527Ser)
n.2298G>C
n.2312G>C
2g.43877600G>TCA346670824ABCG8c.1796G>T (p.Cys599Phe)
c.1793G>T (p.Cys598Phe)
c.1808G>T (p.Cys603Phe)
c.1805G>T (p.Cys602Phe)
c.1580G>T (p.Cys527Phe)
n.2298G>T
n.2312G>T
2g.43877601T>ACA346670828ABCG8c.1797T>A (p.Cys599Ter)
c.1794T>A (p.Cys598Ter)
c.1809T>A (p.Cys603Ter)
c.1806T>A (p.Cys602Ter)
c.1581T>A (p.Cys527Ter)
n.2299T>A
n.2313T>A
2g.43877601T>CCA425908178ABCG8c.1797T>C (p.Cys599=)
c.1794T>C (p.Cys598=)
c.1809T>C (p.Cys603=)
c.1806T>C (p.Cys602=)
c.1581T>C (p.Cys527=)
n.2299T>C
n.2313T>C
2g.43877601T>GCA346670827ABCG8c.1797T>G (p.Cys599Trp)
c.1794T>G (p.Cys598Trp)
c.1809T>G (p.Cys603Trp)
c.1806T>G (p.Cys602Trp)
c.1581T>G (p.Cys527Trp)
n.2299T>G
n.2313T>G
 dbSNP gnomAD v4
2g.43877601T=CA2493965023ABCG8c.1797T= (p.Cys599=)
c.1794T= (p.Cys598=)
c.1809T= (p.Cys603=)
c.1806T= (p.Cys602=)
c.1581T= (p.Cys527=)
n.2299T=
n.2313T=
2g.43877602T>ACA346670829ABCG8c.1798T>A (p.Phe600Ile)
c.1795T>A (p.Phe599Ile)
c.1810T>A (p.Phe604Ile)
c.1807T>A (p.Phe603Ile)
c.1582T>A (p.Phe528Ile)
n.2300T>A
n.2314T>A
2g.43877602T>CCA346670830ABCG8c.1798T>C (p.Phe600Leu)
c.1795T>C (p.Phe599Leu)
c.1810T>C (p.Phe604Leu)
c.1807T>C (p.Phe603Leu)
c.1582T>C (p.Phe528Leu)
n.2300T>C
n.2314T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877602T>GCA346670831ABCG8c.1798T>G (p.Phe600Val)
c.1795T>G (p.Phe599Val)
c.1810T>G (p.Phe604Val)
c.1807T>G (p.Phe603Val)
c.1582T>G (p.Phe528Val)
n.2300T>G
n.2314T>G
2g.43877602T=CA2493965024ABCG8c.1798T= (p.Phe600=)
c.1795T= (p.Phe599=)
c.1810T= (p.Phe604=)
c.1807T= (p.Phe603=)
c.1582T= (p.Phe528=)
n.2300T=
n.2314T=
2g.43877603T>ACA346670832ABCG8c.1799T>A (p.Phe600Tyr)
c.1796T>A (p.Phe599Tyr)
c.1811T>A (p.Phe604Tyr)
c.1808T>A (p.Phe603Tyr)
c.1583T>A (p.Phe528Tyr)
n.2301T>A
n.2315T>A
2g.43877603T>CCA346670833ABCG8c.1799T>C (p.Phe600Ser)
c.1796T>C (p.Phe599Ser)
c.1811T>C (p.Phe604Ser)
c.1808T>C (p.Phe603Ser)
c.1583T>C (p.Phe528Ser)
n.2301T>C
n.2315T>C
2g.43877603T>GCA346670834ABCG8c.1799T>G (p.Phe600Cys)
c.1796T>G (p.Phe599Cys)
c.1811T>G (p.Phe604Cys)
c.1808T>G (p.Phe603Cys)
c.1583T>G (p.Phe528Cys)
n.2301T>G
n.2315T>G
 gnomAD v4
2g.43877604T>ACA346670835ABCG8c.1800T>A (p.Phe600Leu)
c.1797T>A (p.Phe599Leu)
c.1812T>A (p.Phe604Leu)
c.1809T>A (p.Phe603Leu)
c.1584T>A (p.Phe528Leu)
n.2302T>A
n.2316T>A
2g.43877604T>CCA425908181ABCG8c.1800T>C (p.Phe600=)
c.1797T>C (p.Phe599=)
c.1812T>C (p.Phe604=)
c.1809T>C (p.Phe603=)
c.1584T>C (p.Phe528=)
n.2302T>C
n.2316T>C
2g.43877604T>GCA346670836ABCG8c.1800T>G (p.Phe600Leu)
c.1797T>G (p.Phe599Leu)
c.1812T>G (p.Phe604Leu)
c.1809T>G (p.Phe603Leu)
c.1584T>G (p.Phe528Leu)
n.2302T>G
n.2316T>G
2g.43877605G>ACA346670837ABCG8c.1801G>A (p.Glu601Lys)
c.1798G>A (p.Glu600Lys)
c.1813G>A (p.Glu605Lys)
c.1810G>A (p.Glu604Lys)
c.1585G>A (p.Glu529Lys)
n.2303G>A
n.2317G>A
2g.43877605G>CCA346670838ABCG8c.1801G>C (p.Glu601Gln)
c.1798G>C (p.Glu600Gln)
c.1813G>C (p.Glu605Gln)
c.1810G>C (p.Glu604Gln)
c.1585G>C (p.Glu529Gln)
n.2303G>C
n.2317G>C
 COSMIC
2g.43877605G>TCA346670839ABCG8c.1801G>T (p.Glu601Ter)
c.1798G>T (p.Glu600Ter)
c.1813G>T (p.Glu605Ter)
c.1810G>T (p.Glu604Ter)
c.1585G>T (p.Glu529Ter)
n.2303G>T
n.2317G>T
2g.43877606A>CCA346670842ABCG8c.1802A>C (p.Glu601Ala)
c.1799A>C (p.Glu600Ala)
c.1814A>C (p.Glu605Ala)
c.1811A>C (p.Glu604Ala)
c.1586A>C (p.Glu529Ala)
n.2304A>C
n.2318A>C
2g.43877606A>GCA346670841ABCG8c.1802A>G (p.Glu601Gly)
c.1799A>G (p.Glu600Gly)
c.1814A>G (p.Glu605Gly)
c.1811A>G (p.Glu604Gly)
c.1586A>G (p.Glu529Gly)
n.2304A>G
n.2318A>G
2g.43877606A>TCA346670840ABCG8c.1802A>T (p.Glu601Val)
c.1799A>T (p.Glu600Val)
c.1814A>T (p.Glu605Val)
c.1811A>T (p.Glu604Val)
c.1586A>T (p.Glu529Val)
n.2304A>T
n.2318A>T
2g.43877607A=CA2493965025ABCG8c.1803A= (p.Glu601=)
c.1800A= (p.Glu600=)
c.1815A= (p.Glu605=)
c.1812A= (p.Glu604=)
c.1587A= (p.Glu529=)
n.2305A=
n.2319A=
2g.43877607A>CCA346670843ABCG8c.1803A>C (p.Glu601Asp)
c.1800A>C (p.Glu600Asp)
c.1815A>C (p.Glu605Asp)
c.1812A>C (p.Glu604Asp)
c.1587A>C (p.Glu529Asp)
n.2305A>C
n.2319A>C
2g.43877607A>GCA425908184ABCG8c.1803A>G (p.Glu601=)
c.1800A>G (p.Glu600=)
c.1815A>G (p.Glu605=)
c.1812A>G (p.Glu604=)
c.1587A>G (p.Glu529=)
n.2305A>G
n.2319A>G
 dbSNP gnomAD v2 gnomAD v4
2g.43877607A>TCA346670844ABCG8c.1803A>T (p.Glu601Asp)
c.1800A>T (p.Glu600Asp)
c.1815A>T (p.Glu605Asp)
c.1812A>T (p.Glu604Asp)
c.1587A>T (p.Glu529Asp)
n.2305A>T
n.2319A>T
2g.43877608G>ACA1637669ABCG8c.1804G>A (p.Gly602Arg)
c.1801G>A (p.Gly601Arg)
c.1816G>A (p.Gly606Arg)
c.1813G>A (p.Gly605Arg)
c.1588G>A (p.Gly530Arg)
n.2306G>A
n.2320G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877608G>CCA346670845ABCG8c.1804G>C (p.Gly602Arg)
c.1801G>C (p.Gly601Arg)
c.1816G>C (p.Gly606Arg)
c.1813G>C (p.Gly605Arg)
c.1588G>C (p.Gly530Arg)
n.2306G>C
n.2320G>C
2g.43877608G=CA2493965026ABCG8c.1804G= (p.Gly602=)
c.1801G= (p.Gly601=)
c.1816G= (p.Gly606=)
c.1813G= (p.Gly605=)
c.1588G= (p.Gly530=)
n.2306G=
n.2320G=
2g.43877608G>TCA346670846ABCG8c.1804G>T (p.Gly602Trp)
c.1801G>T (p.Gly601Trp)
c.1816G>T (p.Gly606Trp)
c.1813G>T (p.Gly605Trp)
c.1588G>T (p.Gly530Trp)
n.2306G>T
n.2320G>T
2g.43877609G>ACA346670847ABCG8c.1805G>A (p.Gly602Glu)
c.1802G>A (p.Gly601Glu)
c.1817G>A (p.Gly606Glu)
c.1814G>A (p.Gly605Glu)
c.1589G>A (p.Gly530Glu)
n.2307G>A
n.2321G>A
2g.43877609G>CCA346670848ABCG8c.1805G>C (p.Gly602Ala)
c.1802G>C (p.Gly601Ala)
c.1817G>C (p.Gly606Ala)
c.1814G>C (p.Gly605Ala)
c.1589G>C (p.Gly530Ala)
n.2307G>C
n.2321G>C
2g.43877609G>TCA346670849ABCG8c.1805G>T (p.Gly602Val)
c.1802G>T (p.Gly601Val)
c.1817G>T (p.Gly606Val)
c.1814G>T (p.Gly605Val)
c.1589G>T (p.Gly530Val)
n.2307G>T
n.2321G>T
2g.43877610G>ACA425908189ABCG8c.1806G>A (p.Gly602=)
c.1803G>A (p.Gly601=)
c.1818G>A (p.Gly606=)
c.1815G>A (p.Gly605=)
c.1590G>A (p.Gly530=)
n.2308G>A
n.2322G>A
 gnomAD v4
2g.43877610G>CCA425908190ABCG8c.1806G>C (p.Gly602=)
c.1803G>C (p.Gly601=)
c.1818G>C (p.Gly606=)
c.1815G>C (p.Gly605=)
c.1590G>C (p.Gly530=)
n.2308G>C
n.2322G>C
2g.43877610G>TCA425908191ABCG8c.1806G>T (p.Gly602=)
c.1803G>T (p.Gly601=)
c.1818G>T (p.Gly606=)
c.1815G>T (p.Gly605=)
c.1590G>T (p.Gly530=)
n.2308G>T
n.2322G>T
2g.43877611C>ACA346670850ABCG8c.1807C>A (p.Leu603Met)
c.1804C>A (p.Leu602Met)
c.1819C>A (p.Leu607Met)
c.1816C>A (p.Leu606Met)
c.1591C>A (p.Leu531Met)
n.2309C>A
n.2323C>A
2g.43877611C=CA2493965027ABCG8c.1807C= (p.Leu603=)
c.1804C= (p.Leu602=)
c.1819C= (p.Leu607=)
c.1816C= (p.Leu606=)
c.1591C= (p.Leu531=)
n.2309C=
n.2323C=
2g.43877611C>GCA1637670ABCG8c.1807C>G (p.Leu603Val)
c.1804C>G (p.Leu602Val)
c.1819C>G (p.Leu607Val)
c.1816C>G (p.Leu606Val)
c.1591C>G (p.Leu531Val)
n.2309C>G
n.2323C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877611C>TCA425908192ABCG8c.1807C>T (p.Leu603=)
c.1804C>T (p.Leu602=)
c.1819C>T (p.Leu607=)
c.1816C>T (p.Leu606=)
c.1591C>T (p.Leu531=)
n.2309C>T
n.2323C>T
2g.43877612T>ACA346670851ABCG8c.1808T>A (p.Leu603Gln)
c.1805T>A (p.Leu602Gln)
c.1820T>A (p.Leu607Gln)
c.1817T>A (p.Leu606Gln)
c.1592T>A (p.Leu531Gln)
n.2310T>A
n.2324T>A
2g.43877612T>CCA346670852ABCG8c.1808T>C (p.Leu603Pro)
c.1805T>C (p.Leu602Pro)
c.1820T>C (p.Leu607Pro)
c.1817T>C (p.Leu606Pro)
c.1592T>C (p.Leu531Pro)
n.2310T>C
n.2324T>C
2g.43877612T>GCA346670853ABCG8c.1808T>G (p.Leu603Arg)
c.1805T>G (p.Leu602Arg)
c.1820T>G (p.Leu607Arg)
c.1817T>G (p.Leu606Arg)
c.1592T>G (p.Leu531Arg)
n.2310T>G
n.2324T>G
2g.43877613G>ACA425908195ABCG8c.1809G>A (p.Leu603=)
c.1806G>A (p.Leu602=)
c.1821G>A (p.Leu607=)
c.1818G>A (p.Leu606=)
c.1593G>A (p.Leu531=)
n.2311G>A
n.2325G>A
 dbSNP gnomAD v3 gnomAD v4
2g.43877613G>CCA425908196ABCG8c.1809G>C (p.Leu603=)
c.1806G>C (p.Leu602=)
c.1821G>C (p.Leu607=)
c.1818G>C (p.Leu606=)
c.1593G>C (p.Leu531=)
n.2311G>C
n.2325G>C
2g.43877613G=CA2493965028ABCG8c.1809G= (p.Leu603=)
c.1806G= (p.Leu602=)
c.1821G= (p.Leu607=)
c.1818G= (p.Leu606=)
c.1593G= (p.Leu531=)
n.2311G=
n.2325G=
2g.43877613G>TCA425908194ABCG8c.1809G>T (p.Leu603=)
c.1806G>T (p.Leu602=)
c.1821G>T (p.Leu607=)
c.1818G>T (p.Leu606=)
c.1593G>T (p.Leu531=)
n.2311G>T
n.2325G>T
 dbSNP gnomAD v2 gnomAD v4
2g.43877614A>CCA346670855ABCG8c.1810A>C (p.Met604Leu)
c.1807A>C (p.Met603Leu)
c.1822A>C (p.Met608Leu)
c.1819A>C (p.Met607Leu)
c.1594A>C (p.Met532Leu)
n.2312A>C
n.2326A>C
2g.43877614A>GCA346670856ABCG8c.1810A>G (p.Met604Val)
c.1807A>G (p.Met603Val)
c.1822A>G (p.Met608Val)
c.1819A>G (p.Met607Val)
c.1594A>G (p.Met532Val)
n.2312A>G
n.2326A>G
2g.43877614A>TCA346670854ABCG8c.1810A>T (p.Met604Leu)
c.1807A>T (p.Met603Leu)
c.1822A>T (p.Met608Leu)
c.1819A>T (p.Met607Leu)
c.1594A>T (p.Met532Leu)
n.2312A>T
n.2326A>T
 gnomAD v4
2g.43877615T>ACA346670857ABCG8c.1811T>A (p.Met604Lys)
c.1808T>A (p.Met603Lys)
c.1823T>A (p.Met608Lys)
c.1820T>A (p.Met607Lys)
c.1595T>A (p.Met532Lys)
n.2313T>A
n.2327T>A
2g.43877615T>CCA346670858ABCG8c.1811T>C (p.Met604Thr)
c.1808T>C (p.Met603Thr)
c.1823T>C (p.Met608Thr)
c.1820T>C (p.Met607Thr)
c.1595T>C (p.Met532Thr)
n.2313T>C
n.2327T>C
 gnomAD v4
2g.43877615T>GCA346670859ABCG8c.1811T>G (p.Met604Arg)
c.1808T>G (p.Met603Arg)
c.1823T>G (p.Met608Arg)
c.1820T>G (p.Met607Arg)
c.1595T>G (p.Met532Arg)
n.2313T>G
n.2327T>G
2g.43877615_43877618delinsTGAACA2493965029ABCG8c.1811_1814delinsTGAA (p.Met604=)
c.1808_1811delinsTGAA (p.Met603=)
c.1823_1826delinsTGAA (p.Met608=)
c.1820_1823delinsTGAA (p.Met607=)
c.1595_1598delinsTGAA (p.Met532=)
n.2313_2316delinsTGAA
n.2327_2330delinsTGAA
2g.43877616G>ACA346670860ABCG8c.1812G>A (p.Met604Ile)
c.1809G>A (p.Met603Ile)
c.1824G>A (p.Met608Ile)
c.1821G>A (p.Met607Ile)
c.1596G>A (p.Met532Ile)
n.2314G>A
n.2328G>A
 dbSNP gnomAD v3 gnomAD v4
2g.43877616G>CCA346670861ABCG8c.1812G>C (p.Met604Ile)
c.1809G>C (p.Met603Ile)
c.1824G>C (p.Met608Ile)
c.1821G>C (p.Met607Ile)
c.1596G>C (p.Met532Ile)
n.2314G>C
n.2328G>C
2g.43877616G=CA2493965030ABCG8c.1812G= (p.Met604=)
c.1809G= (p.Met603=)
c.1824G= (p.Met608=)
c.1821G= (p.Met607=)
c.1596G= (p.Met532=)
n.2314G=
n.2328G=
2g.43877616G>TCA346670862ABCG8c.1812G>T (p.Met604Ile)
c.1809G>T (p.Met603Ile)
c.1824G>T (p.Met608Ile)
c.1821G>T (p.Met607Ile)
c.1596G>T (p.Met532Ile)
n.2314G>T
n.2328G>T
 gnomAD v4
2g.43877618_43877620delCA1637671ABCG8c.1814_1816del (p.Lys605del)
c.1811_1813del (p.Lys604del)
c.1826_1828del (p.Lys609del)
c.1823_1825del (p.Lys608del)
c.1598_1600del (p.Lys533del)
n.2316_2318del
n.2330_2332del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877617A>CCA346670863ABCG8c.1813A>C (p.Lys605Gln)
c.1810A>C (p.Lys604Gln)
c.1825A>C (p.Lys609Gln)
c.1822A>C (p.Lys608Gln)
c.1597A>C (p.Lys533Gln)
n.2315A>C
n.2329A>C
2g.43877617A>GCA346670864ABCG8c.1813A>G (p.Lys605Glu)
c.1810A>G (p.Lys604Glu)
c.1825A>G (p.Lys609Glu)
c.1822A>G (p.Lys608Glu)
c.1597A>G (p.Lys533Glu)
n.2315A>G
n.2329A>G
2g.43877617A>TCA346670865ABCG8c.1813A>T (p.Lys605Ter)
c.1810A>T (p.Lys604Ter)
c.1825A>T (p.Lys609Ter)
c.1822A>T (p.Lys608Ter)
c.1597A>T (p.Lys533Ter)
n.2315A>T
n.2329A>T
2g.43877618A>CCA346670866ABCG8c.1814A>C (p.Lys605Thr)
c.1811A>C (p.Lys604Thr)
c.1826A>C (p.Lys609Thr)
c.1823A>C (p.Lys608Thr)
c.1598A>C (p.Lys533Thr)
n.2316A>C
n.2330A>C
2g.43877618A>GCA346670867ABCG8c.1814A>G (p.Lys605Arg)
c.1811A>G (p.Lys604Arg)
c.1826A>G (p.Lys609Arg)
c.1823A>G (p.Lys608Arg)
c.1598A>G (p.Lys533Arg)
n.2316A>G
n.2330A>G
2g.43877618A>TCA346670868ABCG8c.1814A>T (p.Lys605Met)
c.1811A>T (p.Lys604Met)
c.1826A>T (p.Lys609Met)
c.1823A>T (p.Lys608Met)
c.1598A>T (p.Lys533Met)
n.2316A>T
n.2330A>T
2g.43877619G>ACA1637672ABCG8c.1815G>A (p.Lys605=)
c.1812G>A (p.Lys604=)
c.1827G>A (p.Lys609=)
c.1824G>A (p.Lys608=)
c.1599G>A (p.Lys533=)
n.2317G>A
n.2331G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877619G>CCA346670870ABCG8c.1815G>C (p.Lys605Asn)
c.1812G>C (p.Lys604Asn)
c.1827G>C (p.Lys609Asn)
c.1824G>C (p.Lys608Asn)
c.1599G>C (p.Lys533Asn)
n.2317G>C
n.2331G>C
2g.43877619G=CA2493965031ABCG8c.1815G= (p.Lys605=)
c.1812G= (p.Lys604=)
c.1827G= (p.Lys609=)
c.1824G= (p.Lys608=)
c.1599G= (p.Lys533=)
n.2317G=
n.2331G=
2g.43877619G>TCA346670869ABCG8c.1815G>T (p.Lys605Asn)
c.1812G>T (p.Lys604Asn)
c.1827G>T (p.Lys609Asn)
c.1824G>T (p.Lys608Asn)
c.1599G>T (p.Lys533Asn)
n.2317G>T
n.2331G>T
 gnomAD v4
2g.43877620A=CA2493965033ABCG8c.1816A= (p.Ile606=)
c.1813A= (p.Ile605=)
c.1828A= (p.Ile610=)
c.1825A= (p.Ile609=)
c.1600A= (p.Ile534=)
n.2318A=
n.2332A=
2g.43877620A>CCA346670871ABCG8c.1816A>C (p.Ile606Leu)
c.1813A>C (p.Ile605Leu)
c.1828A>C (p.Ile610Leu)
c.1825A>C (p.Ile609Leu)
c.1600A>C (p.Ile534Leu)
n.2318A>C
n.2332A>C
2g.43877620A>GCA346670872ABCG8c.1816A>G (p.Ile606Val)
c.1813A>G (p.Ile605Val)
c.1828A>G (p.Ile610Val)
c.1825A>G (p.Ile609Val)
c.1600A>G (p.Ile534Val)
n.2318A>G
n.2332A>G
 dbSNP gnomAD v3 gnomAD v4
2g.43877620A>TCA346670873ABCG8c.1816A>T (p.Ile606Phe)
c.1813A>T (p.Ile605Phe)
c.1828A>T (p.Ile610Phe)
c.1825A>T (p.Ile609Phe)
c.1600A>T (p.Ile534Phe)
n.2318A>T
n.2332A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877620_43877621delinsATCA2493965032ABCG8c.1816_1817delinsAT (p.Ile606=)
c.1813_1814delinsAT (p.Ile605=)
c.1828_1829delinsAT (p.Ile610=)
c.1825_1826delinsAT (p.Ile609=)
c.1600_1601delinsAT (p.Ile534=)
n.2318_2319delinsAT
n.2332_2333delinsAT
2g.43877621T>ACA346670874ABCG8c.1817T>A (p.Ile606Asn)
c.1814T>A (p.Ile605Asn)
c.1829T>A (p.Ile610Asn)
c.1826T>A (p.Ile609Asn)
c.1601T>A (p.Ile534Asn)
n.2319T>A
n.2333T>A
2g.43877621T>CCA346670875ABCG8c.1817T>C (p.Ile606Thr)
c.1814T>C (p.Ile605Thr)
c.1829T>C (p.Ile610Thr)
c.1826T>C (p.Ile609Thr)
c.1601T>C (p.Ile534Thr)
n.2319T>C
n.2333T>C
 ClinVar dbSNP
2g.43877621T>GCA346670876ABCG8c.1817T>G (p.Ile606Ser)
c.1814T>G (p.Ile605Ser)
c.1829T>G (p.Ile610Ser)
c.1826T>G (p.Ile609Ser)
c.1601T>G (p.Ile534Ser)
n.2319T>G
n.2333T>G
2g.43877621T=CA2493965034ABCG8c.1817T= (p.Ile606=)
c.1814T= (p.Ile605=)
c.1829T= (p.Ile610=)
c.1826T= (p.Ile609=)
c.1601T= (p.Ile534=)
n.2319T=
n.2333T=
2g.43877622delCA769091425ABCG8c.1818del (p.Gln607SerfsTer?)
c.1815del (p.Gln606SerfsTer?)
c.1830del (p.Gln611SerfsTer?)
c.1827del (p.Gln610SerfsTer?)
c.1602del (p.Gln535SerfsTer?)
n.2320del
n.2334del
 dbSNP
2g.43877622T>ACA425908203ABCG8c.1818T>A (p.Ile606=)
c.1815T>A (p.Ile605=)
c.1830T>A (p.Ile610=)
c.1827T>A (p.Ile609=)
c.1602T>A (p.Ile534=)
n.2320T>A
n.2334T>A
2g.43877622T>CCA425908204ABCG8c.1818T>C (p.Ile606=)
c.1815T>C (p.Ile605=)
c.1830T>C (p.Ile610=)
c.1827T>C (p.Ile609=)
c.1602T>C (p.Ile534=)
n.2320T>C
n.2334T>C
2g.43877622T>GCA346670877ABCG8c.1818T>G (p.Ile606Met)
c.1815T>G (p.Ile605Met)
c.1830T>G (p.Ile610Met)
c.1827T>G (p.Ile609Met)
c.1602T>G (p.Ile534Met)
n.2320T>G
n.2334T>G
2g.43877623C>ACA346670878ABCG8c.1819C>A (p.Gln607Lys)
c.1816C>A (p.Gln606Lys)
c.1831C>A (p.Gln611Lys)
c.1828C>A (p.Gln610Lys)
c.1603C>A (p.Gln535Lys)
n.2321C>A
n.2335C>A
 gnomAD v4
2g.43877623C=CA2493965035ABCG8c.1819C= (p.Gln607=)
c.1816C= (p.Gln606=)
c.1831C= (p.Gln611=)
c.1828C= (p.Gln610=)
c.1603C= (p.Gln535=)
n.2321C=
n.2335C=
2g.43877623C>GCA346670879ABCG8c.1819C>G (p.Gln607Glu)
c.1816C>G (p.Gln606Glu)
c.1831C>G (p.Gln611Glu)
c.1828C>G (p.Gln610Glu)
c.1603C>G (p.Gln535Glu)
n.2321C>G
n.2335C>G
 gnomAD v4
2g.43877623C>TCA1637673ABCG8c.1819C>T (p.Gln607Ter)
c.1816C>T (p.Gln606Ter)
c.1831C>T (p.Gln611Ter)
c.1828C>T (p.Gln610Ter)
c.1603C>T (p.Gln535Ter)
n.2321C>T
n.2335C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877624A=CA2493965036ABCG8c.1820A= (p.Gln607=)
c.1817A= (p.Gln606=)
c.1832A= (p.Gln611=)
c.1829A= (p.Gln610=)
c.1604A= (p.Gln535=)
n.2322A=
n.2336A=
2g.43877624A>CCA346670880ABCG8c.1820A>C (p.Gln607Pro)
c.1817A>C (p.Gln606Pro)
c.1832A>C (p.Gln611Pro)
c.1829A>C (p.Gln610Pro)
c.1604A>C (p.Gln535Pro)
n.2322A>C
n.2336A>C
2g.43877624A>GCA346670881ABCG8c.1820A>G (p.Gln607Arg)
c.1817A>G (p.Gln606Arg)
c.1832A>G (p.Gln611Arg)
c.1829A>G (p.Gln610Arg)
c.1604A>G (p.Gln535Arg)
n.2322A>G
n.2336A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877624A>TCA346670882ABCG8c.1820A>T (p.Gln607Leu)
c.1817A>T (p.Gln606Leu)
c.1832A>T (p.Gln611Leu)
c.1829A>T (p.Gln610Leu)
c.1604A>T (p.Gln535Leu)
n.2322A>T
n.2336A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877625G>ACA1637674ABCG8c.1821G>A (p.Gln607=)
c.1818G>A (p.Gln606=)
c.1833G>A (p.Gln611=)
c.1830G>A (p.Gln610=)
c.1605G>A (p.Gln535=)
n.2323G>A
n.2337G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877625G>CCA346670884ABCG8c.1821G>C (p.Gln607His)
c.1818G>C (p.Gln606His)
c.1833G>C (p.Gln611His)
c.1830G>C (p.Gln610His)
c.1605G>C (p.Gln535His)
n.2323G>C
n.2337G>C
 dbSNP gnomAD v2 gnomAD v4
2g.43877625G=CA2493965037ABCG8c.1821G= (p.Gln607=)
c.1818G= (p.Gln606=)
c.1833G= (p.Gln611=)
c.1830G= (p.Gln610=)
c.1605G= (p.Gln535=)
n.2323G=
n.2337G=
2g.43877625G>TCA346670883ABCG8c.1821G>T (p.Gln607His)
c.1818G>T (p.Gln606His)
c.1833G>T (p.Gln611His)
c.1830G>T (p.Gln610His)
c.1605G>T (p.Gln535His)
n.2323G>T
n.2337G>T
 ClinVar dbSNP gnomAD v2
2g.43877626T>ACA346670885ABCG8c.1822T>A (p.Phe608Ile)
c.1819T>A (p.Phe607Ile)
c.1834T>A (p.Phe612Ile)
c.1831T>A (p.Phe611Ile)
c.1606T>A (p.Phe536Ile)
n.2324T>A
n.2338T>A
2g.43877626T>CCA346670886ABCG8c.1822T>C (p.Phe608Leu)
c.1819T>C (p.Phe607Leu)
c.1834T>C (p.Phe612Leu)
c.1831T>C (p.Phe611Leu)
c.1606T>C (p.Phe536Leu)
n.2324T>C
n.2338T>C
2g.43877626T>GCA346670887ABCG8c.1822T>G (p.Phe608Val)
c.1819T>G (p.Phe607Val)
c.1834T>G (p.Phe612Val)
c.1831T>G (p.Phe611Val)
c.1606T>G (p.Phe536Val)
n.2324T>G
n.2338T>G
2g.43877627T>ACA346670888ABCG8c.1823T>A (p.Phe608Tyr)
c.1820T>A (p.Phe607Tyr)
c.1835T>A (p.Phe612Tyr)
c.1832T>A (p.Phe611Tyr)
c.1607T>A (p.Phe536Tyr)
n.2325T>A
n.2339T>A
2g.43877627T>CCA346670889ABCG8c.1823T>C (p.Phe608Ser)
c.1820T>C (p.Phe607Ser)
c.1835T>C (p.Phe612Ser)
c.1832T>C (p.Phe611Ser)
c.1607T>C (p.Phe536Ser)
n.2325T>C
n.2339T>C
2g.43877627T>GCA346670890ABCG8c.1823T>G (p.Phe608Cys)
c.1820T>G (p.Phe607Cys)
c.1835T>G (p.Phe612Cys)
c.1832T>G (p.Phe611Cys)
c.1607T>G (p.Phe536Cys)
n.2325T>G
n.2339T>G
2g.43877628C>ACA346670891ABCG8c.1824C>A (p.Phe608Leu)
c.1821C>A (p.Phe607Leu)
c.1836C>A (p.Phe612Leu)
c.1833C>A (p.Phe611Leu)
c.1608C>A (p.Phe536Leu)
n.2326C>A
n.2340C>A
2g.43877628C>GCA346670892ABCG8c.1824C>G (p.Phe608Leu)
c.1821C>G (p.Phe607Leu)
c.1836C>G (p.Phe612Leu)
c.1833C>G (p.Phe611Leu)
c.1608C>G (p.Phe536Leu)
n.2326C>G
n.2340C>G
2g.43877628C>TCA425908211ABCG8c.1824C>T (p.Phe608=)
c.1821C>T (p.Phe607=)
c.1836C>T (p.Phe612=)
c.1833C>T (p.Phe611=)
c.1608C>T (p.Phe536=)
n.2326C>T
n.2340C>T
2g.43877629A=CA2493965039ABCG8c.1825A= (p.Ser609=)
c.1822A= (p.Ser608=)
c.1837A= (p.Ser613=)
c.1834A= (p.Ser612=)
c.1609A= (p.Ser537=)
n.2327A=
n.2341A=
2g.43877629A>CCA346670893ABCG8c.1825A>C (p.Ser609Arg)
c.1822A>C (p.Ser608Arg)
c.1837A>C (p.Ser613Arg)
c.1834A>C (p.Ser612Arg)
c.1609A>C (p.Ser537Arg)
n.2327A>C
n.2341A>C
2g.43877629A>GCA346670894ABCG8c.1825A>G (p.Ser609Gly)
c.1822A>G (p.Ser608Gly)
c.1837A>G (p.Ser613Gly)
c.1834A>G (p.Ser612Gly)
c.1609A>G (p.Ser537Gly)
n.2327A>G
n.2341A>G
 dbSNP gnomAD v2 gnomAD v4
2g.43877629A>TCA346670895ABCG8c.1825A>T (p.Ser609Cys)
c.1822A>T (p.Ser608Cys)
c.1837A>T (p.Ser613Cys)
c.1834A>T (p.Ser612Cys)
c.1609A>T (p.Ser537Cys)
n.2327A>T
n.2341A>T
2g.43877629_43877630delinsAGCA2493965038ABCG8c.1825_1826delinsAG (p.Ser609=)
c.1822_1823delinsAG (p.Ser608=)
c.1837_1838delinsAG (p.Ser613=)
c.1834_1835delinsAG (p.Ser612=)
c.1609_1610delinsAG (p.Ser537=)
n.2327_2328delinsAG
n.2341_2342delinsAG
2g.43877630delCA2493965040ABCG8c.1826del (p.Ser609ThrfsTer?)
c.1823del (p.Ser608ThrfsTer?)
c.1838del (p.Ser613ThrfsTer?)
c.1835del (p.Ser612ThrfsTer?)
c.1610del (p.Ser537ThrfsTer?)
n.2328del
n.2342del
 dbSNP
2g.43877630G>ACA346670898ABCG8c.1826G>A (p.Ser609Asn)
c.1823G>A (p.Ser608Asn)
c.1838G>A (p.Ser613Asn)
c.1835G>A (p.Ser612Asn)
c.1610G>A (p.Ser537Asn)
n.2328G>A
n.2342G>A
2g.43877630G>CCA346670897ABCG8c.1826G>C (p.Ser609Thr)
c.1823G>C (p.Ser608Thr)
c.1838G>C (p.Ser613Thr)
c.1835G>C (p.Ser612Thr)
c.1610G>C (p.Ser537Thr)
n.2328G>C
n.2342G>C
 gnomAD v4
2g.43877630G>TCA346670896ABCG8c.1826G>T (p.Ser609Ile)
c.1823G>T (p.Ser608Ile)
c.1838G>T (p.Ser613Ile)
c.1835G>T (p.Ser612Ile)
c.1610G>T (p.Ser537Ile)
n.2328G>T
n.2342G>T
2g.43877631C>ACA346670899ABCG8c.1827C>A (p.Ser609Arg)
c.1824C>A (p.Ser608Arg)
c.1839C>A (p.Ser613Arg)
c.1836C>A (p.Ser612Arg)
c.1611C>A (p.Ser537Arg)
n.2329C>A
n.2343C>A
2g.43877631C=CA2493965042ABCG8c.1827C= (p.Ser609=)
c.1824C= (p.Ser608=)
c.1839C= (p.Ser613=)
c.1836C= (p.Ser612=)
c.1611C= (p.Ser537=)
n.2329C=
n.2343C=
2g.43877631C>GCA346670900ABCG8c.1827C>G (p.Ser609Arg)
c.1824C>G (p.Ser608Arg)
c.1839C>G (p.Ser613Arg)
c.1836C>G (p.Ser612Arg)
c.1611C>G (p.Ser537Arg)
n.2329C>G
n.2343C>G
2g.43877631C>TCA425908213ABCG8c.1827C>T (p.Ser609=)
c.1824C>T (p.Ser608=)
c.1839C>T (p.Ser613=)
c.1836C>T (p.Ser612=)
c.1611C>T (p.Ser537=)
n.2329C>T
n.2343C>T
 dbSNP gnomAD v4
2g.43877631_43877634delinsCAGACA2493965041ABCG8c.1827_1830delinsCAGA (p.Ser609=)
c.1824_1827delinsCAGA (p.Ser608=)
c.1839_1842delinsCAGA (p.Ser613=)
c.1836_1839delinsCAGA (p.Ser612=)
c.1611_1614delinsCAGA (p.Ser537=)
n.2329_2332delinsCAGA
n.2343_2346delinsCAGA
2g.43877632A>CCA425908214ABCG8c.1828A>C (p.Arg610=)
c.1825A>C (p.Arg609=)
c.1840A>C (p.Arg614=)
c.1837A>C (p.Arg613=)
c.1612A>C (p.Arg538=)
n.2330A>C
n.2344A>C
2g.43877632A>GCA346670901ABCG8c.1828A>G (p.Arg610Gly)
c.1825A>G (p.Arg609Gly)
c.1840A>G (p.Arg614Gly)
c.1837A>G (p.Arg613Gly)
c.1612A>G (p.Arg538Gly)
n.2330A>G
n.2344A>G
2g.43877632A>TCA346670902ABCG8c.1828A>T (p.Arg610Ter)
c.1825A>T (p.Arg609Ter)
c.1840A>T (p.Arg614Ter)
c.1837A>T (p.Arg613Ter)
c.1612A>T (p.Arg538Ter)
n.2330A>T
n.2344A>T
2g.43877636_43877638dupCA2493965043ABCG8c.1832_1834dup (p.Arg611_Thr612insArg)
c.1829_1831dup (p.Arg610_Thr611insArg)
c.1844_1846dup (p.Arg615_Thr616insArg)
c.1841_1843dup (p.Arg614_Thr615insArg)
c.1616_1618dup (p.Arg539_Thr540insArg)
n.2334_2336dup
n.2348_2350dup
 dbSNP
2g.43877636_43877638delCA1637675ABCG8c.1832_1834del (p.Arg611del)
c.1829_1831del (p.Arg610del)
c.1844_1846del (p.Arg615del)
c.1841_1843del (p.Arg614del)
c.1616_1618del (p.Arg539del)
n.2334_2336del
n.2348_2350del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.43877633G>ACA346670903ABCG8c.1829G>A (p.Arg610Lys)
c.1826G>A (p.Arg609Lys)
c.1841G>A (p.Arg614Lys)
c.1838G>A (p.Arg613Lys)
c.1613G>A (p.Arg538Lys)
n.2331G>A
n.2345G>A
 dbSNP
2g.43877633G>CCA346670904ABCG8c.1829G>C (p.Arg610Thr)
c.1826G>C (p.Arg609Thr)
c.1841G>C (p.Arg614Thr)
c.1838G>C (p.Arg613Thr)
c.1613G>C (p.Arg538Thr)
n.2331G>C
n.2345G>C
2g.43877633G=CA2493965044ABCG8c.1829G= (p.Arg610=)
c.1826G= (p.Arg609=)
c.1841G= (p.Arg614=)
c.1838G= (p.Arg613=)
c.1613G= (p.Arg538=)
n.2331G=
n.2345G=
2g.43877633G>TCA346670905ABCG8c.1829G>T (p.Arg610Ile)
c.1826G>T (p.Arg609Ile)
c.1841G>T (p.Arg614Ile)
c.1838G>T (p.Arg613Ile)
c.1613G>T (p.Arg538Ile)
n.2331G>T
n.2345G>T
2g.43877634A=CA2493965045ABCG8c.1830A= (p.Arg610=)
c.1827A= (p.Arg609=)
c.1842A= (p.Arg614=)
c.1839A= (p.Arg613=)
c.1614A= (p.Arg538=)
n.2332A=
n.2346A=
2g.43877634A>CCA346670906ABCG8c.1830A>C (p.Arg610Ser)
c.1827A>C (p.Arg609Ser)
c.1842A>C (p.Arg614Ser)
c.1839A>C (p.Arg613Ser)
c.1614A>C (p.Arg538Ser)
n.2332A>C
n.2346A>C
 dbSNP
2g.43877634A>GCA425908215ABCG8c.1830A>G (p.Arg610=)
c.1827A>G (p.Arg609=)
c.1842A>G (p.Arg614=)
c.1839A>G (p.Arg613=)
c.1614A>G (p.Arg538=)
n.2332A>G
n.2346A>G
2g.43877634A>TCA346670907ABCG8c.1830A>T (p.Arg610Ser)
c.1827A>T (p.Arg609Ser)
c.1842A>T (p.Arg614Ser)
c.1839A>T (p.Arg613Ser)
c.1614A>T (p.Arg538Ser)
n.2332A>T
n.2346A>T
 gnomAD v4
2g.43877635A>CCA425908216ABCG8c.1831A>C (p.Arg611=)
c.1828A>C (p.Arg610=)
c.1843A>C (p.Arg615=)
c.1840A>C (p.Arg614=)
c.1615A>C (p.Arg539=)
n.2333A>C
n.2347A>C
2g.43877635A>GCA346670908ABCG8c.1831A>G (p.Arg611Gly)
c.1828A>G (p.Arg610Gly)
c.1843A>G (p.Arg615Gly)
c.1840A>G (p.Arg614Gly)
c.1615A>G (p.Arg539Gly)
n.2333A>G
n.2347A>G
2g.43877635A>TCA346670909ABCG8c.1831A>T (p.Arg611Ter)
c.1828A>T (p.Arg610Ter)
c.1843A>T (p.Arg615Ter)
c.1840A>T (p.Arg614Ter)
c.1615A>T (p.Arg539Ter)
n.2333A>T
n.2347A>T
2g.43877636G>ACA346670911ABCG8c.1832G>A (p.Arg611Lys)
c.1829G>A (p.Arg610Lys)
c.1844G>A (p.Arg615Lys)
c.1841G>A (p.Arg614Lys)
c.1616G>A (p.Arg539Lys)
n.2334G>A
n.2348G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.43877636G>CCA46474244ABCG8c.1832G>C (p.Arg611Thr)
c.1829G>C (p.Arg610Thr)
c.1844G>C (p.Arg615Thr)
c.1841G>C (p.Arg614Thr)
c.1616G>C (p.Arg539Thr)
n.2334G>C
n.2348G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877636G=CA2493965046ABCG8c.1832G= (p.Arg611=)
c.1829G= (p.Arg610=)
c.1844G= (p.Arg615=)
c.1841G= (p.Arg614=)
c.1616G= (p.Arg539=)
n.2334G=
n.2348G=
2g.43877636G>TCA346670910ABCG8c.1832G>T (p.Arg611Ile)
c.1829G>T (p.Arg610Ile)
c.1844G>T (p.Arg615Ile)
c.1841G>T (p.Arg614Ile)
c.1616G>T (p.Arg539Ile)
n.2334G>T
n.2348G>T
 COSMIC
2g.43877637A=CA2493965047ABCG8c.1833A= (p.Arg611=)
c.1830A= (p.Arg610=)
c.1845A= (p.Arg615=)
c.1842A= (p.Arg614=)
c.1617A= (p.Arg539=)
n.2335A=
n.2349A=
2g.43877637A>CCA1637676ABCG8c.1833A>C (p.Arg611Ser)
c.1830A>C (p.Arg610Ser)
c.1845A>C (p.Arg615Ser)
c.1842A>C (p.Arg614Ser)
c.1617A>C (p.Arg539Ser)
n.2335A>C
n.2349A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877637A>GCA425908217ABCG8c.1833A>G (p.Arg611=)
c.1830A>G (p.Arg610=)
c.1845A>G (p.Arg615=)
c.1842A>G (p.Arg614=)
c.1617A>G (p.Arg539=)
n.2335A>G
n.2349A>G
 gnomAD v4
2g.43877637A>TCA346670912ABCG8c.1833A>T (p.Arg611Ser)
c.1830A>T (p.Arg610Ser)
c.1845A>T (p.Arg615Ser)
c.1842A>T (p.Arg614Ser)
c.1617A>T (p.Arg539Ser)
n.2335A>T
n.2349A>T
2g.43877638A=CA2493965048ABCG8c.1834A= (p.Thr612=)
c.1831A= (p.Thr611=)
c.1846A= (p.Thr616=)
c.1843A= (p.Thr615=)
c.1618A= (p.Thr540=)
n.2336A=
n.2350A=
2g.43877638A>CCA346670914ABCG8c.1834A>C (p.Thr612Pro)
c.1831A>C (p.Thr611Pro)
c.1846A>C (p.Thr616Pro)
c.1843A>C (p.Thr615Pro)
c.1618A>C (p.Thr540Pro)
n.2336A>C
n.2350A>C
2g.43877638A>GCA46474255ABCG8c.1834A>G (p.Thr612Ala)
c.1831A>G (p.Thr611Ala)
c.1846A>G (p.Thr616Ala)
c.1843A>G (p.Thr615Ala)
c.1618A>G (p.Thr540Ala)
n.2336A>G
n.2350A>G
 dbSNP
2g.43877638A>TCA346670913ABCG8c.1834A>T (p.Thr612Ser)
c.1831A>T (p.Thr611Ser)
c.1846A>T (p.Thr616Ser)
c.1843A>T (p.Thr615Ser)
c.1618A>T (p.Thr540Ser)
n.2336A>T
n.2350A>T
2g.43877639C>ACA346670915ABCG8c.1835C>A (p.Thr612Asn)
c.1832C>A (p.Thr611Asn)
c.1847C>A (p.Thr616Asn)
c.1844C>A (p.Thr615Asn)
c.1619C>A (p.Thr540Asn)
n.2337C>A
n.2351C>A
2g.43877639C>GCA346670916ABCG8c.1835C>G (p.Thr612Ser)
c.1832C>G (p.Thr611Ser)
c.1847C>G (p.Thr616Ser)
c.1844C>G (p.Thr615Ser)
c.1619C>G (p.Thr540Ser)
n.2337C>G
n.2351C>G
2g.43877639C>TCA346670917ABCG8c.1835C>T (p.Thr612Ile)
c.1832C>T (p.Thr611Ile)
c.1847C>T (p.Thr616Ile)
c.1844C>T (p.Thr615Ile)
c.1619C>T (p.Thr540Ile)
n.2337C>T
n.2351C>T
 gnomAD v4
2g.43877640T>ACA425908221ABCG8c.1836T>A (p.Thr612=)
c.1833T>A (p.Thr611=)
c.1848T>A (p.Thr616=)
c.1845T>A (p.Thr615=)
c.1620T>A (p.Thr540=)
n.2338T>A
n.2352T>A
2g.43877640T>CCA425908222ABCG8c.1836T>C (p.Thr612=)
c.1833T>C (p.Thr611=)
c.1848T>C (p.Thr616=)
c.1845T>C (p.Thr615=)
c.1620T>C (p.Thr540=)
n.2338T>C
n.2352T>C
2g.43877640T>GCA425908223ABCG8c.1836T>G (p.Thr612=)
c.1833T>G (p.Thr611=)
c.1848T>G (p.Thr616=)
c.1845T>G (p.Thr615=)
c.1620T>G (p.Thr540=)
n.2338T>G
n.2352T>G
2g.43877640_43877641dupCA2658838072ABCG8c.1836_1837dup (p.Tyr613PhefsTer?)
c.1833_1834dup (p.Tyr612PhefsTer?)
c.1848_1849dup (p.Tyr617PhefsTer?)
c.1845_1846dup (p.Tyr616PhefsTer?)
c.1620_1621dup (p.Tyr541PhefsTer?)
n.2338_2339dup
n.2352_2353dup
 gnomAD v4
2g.43877641T>ACA346670919ABCG8c.1837T>A (p.Tyr613Asn)
c.1834T>A (p.Tyr612Asn)
c.1849T>A (p.Tyr617Asn)
c.1846T>A (p.Tyr616Asn)
c.1621T>A (p.Tyr541Asn)
n.2339T>A
n.2353T>A
 gnomAD v4
2g.43877641T>CCA1637677ABCG8c.1837T>C (p.Tyr613His)
c.1834T>C (p.Tyr612His)
c.1849T>C (p.Tyr617His)
c.1846T>C (p.Tyr616His)
c.1621T>C (p.Tyr541His)
n.2339T>C
n.2353T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.43877641T>GCA346670918ABCG8c.1837T>G (p.Tyr613Asp)
c.1834T>G (p.Tyr612Asp)
c.1849T>G (p.Tyr617Asp)
c.1846T>G (p.Tyr616Asp)
c.1621T>G (p.Tyr541Asp)
n.2339T>G
n.2353T>G
2g.43877641T=CA2493965049ABCG8c.1837T= (p.Tyr613=)
c.1834T= (p.Tyr612=)
c.1849T= (p.Tyr617=)
c.1846T= (p.Tyr616=)
c.1621T= (p.Tyr541=)
n.2339T=
n.2353T=
2g.43877642A>CCA346670920ABCG8c.1838A>C (p.Tyr613Ser)
c.1835A>C (p.Tyr612Ser)
c.1850A>C (p.Tyr617Ser)
c.1847A>C (p.Tyr616Ser)
c.1622A>C (p.Tyr541Ser)
n.2340A>C
n.2354A>C
2g.43877642A>GCA346670921ABCG8c.1838A>G (p.Tyr613Cys)
c.1835A>G (p.Tyr612Cys)
c.1850A>G (p.Tyr617Cys)
c.1847A>G (p.Tyr616Cys)
c.1622A>G (p.Tyr541Cys)
n.2340A>G
n.2354A>G
 gnomAD v4
2g.43877642A>TCA346670922ABCG8c.1838A>T (p.Tyr613Phe)
c.1835A>T (p.Tyr612Phe)
c.1850A>T (p.Tyr617Phe)
c.1847A>T (p.Tyr616Phe)
c.1622A>T (p.Tyr541Phe)
n.2340A>T
n.2354A>T
2g.43877643T>ACA346670923ABCG8c.1839T>A (p.Tyr613Ter)
c.1836T>A (p.Tyr612Ter)
c.1851T>A (p.Tyr617Ter)
c.1848T>A (p.Tyr616Ter)
c.1623T>A (p.Tyr541Ter)
n.2341T>A
n.2355T>A
2g.43877643T>CCA1637678ABCG8c.1839T>C (p.Tyr613=)
c.1836T>C (p.Tyr612=)
c.1851T>C (p.Tyr617=)
c.1848T>C (p.Tyr616=)
c.1623T>C (p.Tyr541=)
n.2341T>C
n.2355T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877643T>GCA346670924ABCG8c.1839T>G (p.Tyr613Ter)
c.1836T>G (p.Tyr612Ter)
c.1851T>G (p.Tyr617Ter)
c.1848T>G (p.Tyr616Ter)
c.1623T>G (p.Tyr541Ter)
n.2341T>G
n.2355T>G
2g.43877643T=CA2493965050ABCG8c.1839T= (p.Tyr613=)
c.1836T= (p.Tyr612=)
c.1851T= (p.Tyr617=)
c.1848T= (p.Tyr616=)
c.1623T= (p.Tyr541=)
n.2341T=
n.2355T=
2g.43877644A=CA2493965051ABCG8c.1840A= (p.Lys614=)
c.1837A= (p.Lys613=)
c.1852A= (p.Lys618=)
c.1849A= (p.Lys617=)
c.1624A= (p.Lys542=)
n.2342A=
n.2356A=
2g.43877644A>CCA346670926ABCG8c.1840A>C (p.Lys614Gln)
c.1837A>C (p.Lys613Gln)
c.1852A>C (p.Lys618Gln)
c.1849A>C (p.Lys617Gln)
c.1624A>C (p.Lys542Gln)
n.2342A>C
n.2356A>C
2g.43877644A>GCA1637679ABCG8c.1840A>G (p.Lys614Glu)
c.1837A>G (p.Lys613Glu)
c.1852A>G (p.Lys618Glu)
c.1849A>G (p.Lys617Glu)
c.1624A>G (p.Lys542Glu)
n.2342A>G
n.2356A>G
 dbSNP ExAC gnomAD v2
2g.43877644A>TCA346670925ABCG8c.1840A>T (p.Lys614Ter)
c.1837A>T (p.Lys613Ter)
c.1852A>T (p.Lys618Ter)
c.1849A>T (p.Lys617Ter)
c.1624A>T (p.Lys542Ter)
n.2342A>T
n.2356A>T
2g.43877645A>CCA346670927ABCG8c.1841A>C (p.Lys614Thr)
c.1838A>C (p.Lys613Thr)
c.1853A>C (p.Lys618Thr)
c.1850A>C (p.Lys617Thr)
c.1625A>C (p.Lys542Thr)
n.2343A>C
n.2357A>C
 gnomAD v4
2g.43877645A>GCA346670928ABCG8c.1841A>G (p.Lys614Arg)
c.1838A>G (p.Lys613Arg)
c.1853A>G (p.Lys618Arg)
c.1850A>G (p.Lys617Arg)
c.1625A>G (p.Lys542Arg)
n.2343A>G
n.2357A>G
2g.43877645A>TCA346670929ABCG8c.1841A>T (p.Lys614Ile)
c.1838A>T (p.Lys613Ile)
c.1853A>T (p.Lys618Ile)
c.1850A>T (p.Lys617Ile)
c.1625A>T (p.Lys542Ile)
n.2343A>T
n.2357A>T
2g.43877646A=CA2493965052ABCG8c.1842A= (p.Lys614=)
c.1839A= (p.Lys613=)
c.1854A= (p.Lys618=)
c.1851A= (p.Lys617=)
c.1626A= (p.Lys542=)
n.2344A=
n.2358A=
2g.43877646A>CCA346670930ABCG8c.1842A>C (p.Lys614Asn)
c.1839A>C (p.Lys613Asn)
c.1854A>C (p.Lys618Asn)
c.1851A>C (p.Lys617Asn)
c.1626A>C (p.Lys542Asn)
n.2344A>C
n.2358A>C
2g.43877646A>GCA1637680ABCG8c.1842A>G (p.Lys614=)
c.1839A>G (p.Lys613=)
c.1854A>G (p.Lys618=)
c.1851A>G (p.Lys617=)
c.1626A>G (p.Lys542=)
n.2344A>G
n.2358A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877646A>TCA346670931ABCG8c.1842A>T (p.Lys614Asn)
c.1839A>T (p.Lys613Asn)
c.1854A>T (p.Lys618Asn)
c.1851A>T (p.Lys617Asn)
c.1626A>T (p.Lys542Asn)
n.2344A>T
n.2358A>T
2g.43877648_43877692delCA2586969038ABCG8c.1844_1884+4del
c.1841_1881+4del
c.1856_1896+4del
c.1853_1893+4del
c.1628_1668+4del
n.2346_2386+4del
n.2360_2400+4del
2g.43877647A>CCA346670932ABCG8c.1843A>C (p.Met615Leu)
c.1840A>C (p.Met614Leu)
c.1855A>C (p.Met619Leu)
c.1852A>C (p.Met618Leu)
c.1627A>C (p.Met543Leu)
n.2345A>C
n.2359A>C
2g.43877647A>GCA346670933ABCG8c.1843A>G (p.Met615Val)
c.1840A>G (p.Met614Val)
c.1855A>G (p.Met619Val)
c.1852A>G (p.Met618Val)
c.1627A>G (p.Met543Val)
n.2345A>G
n.2359A>G
2g.43877647A>TCA346670934ABCG8c.1843A>T (p.Met615Leu)
c.1840A>T (p.Met614Leu)
c.1855A>T (p.Met619Leu)
c.1852A>T (p.Met618Leu)
c.1627A>T (p.Met543Leu)
n.2345A>T
n.2359A>T
2g.43877648T>ACA346670935ABCG8c.1844T>A (p.Met615Lys)
c.1841T>A (p.Met614Lys)
c.1856T>A (p.Met619Lys)
c.1853T>A (p.Met618Lys)
c.1628T>A (p.Met543Lys)
n.2346T>A
n.2360T>A
2g.43877648T>CCA346670936ABCG8c.1844T>C (p.Met615Thr)
c.1841T>C (p.Met614Thr)
c.1856T>C (p.Met619Thr)
c.1853T>C (p.Met618Thr)
c.1628T>C (p.Met543Thr)
n.2346T>C
n.2360T>C
2g.43877648T>GCA346670937ABCG8c.1844T>G (p.Met615Arg)
c.1841T>G (p.Met614Arg)
c.1856T>G (p.Met619Arg)
c.1853T>G (p.Met618Arg)
c.1628T>G (p.Met543Arg)
n.2346T>G
n.2360T>G

Number of alleles fetched