OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21852361C= | CA2021297836 | ABCC9 | c.2643+7G= (n.2643+7G=) n.220+7G= c.*1741+7G= (n.*1741+7G=) n.2144+7G= c.2592+7G= (n.2592+7G=) c.1524+7G= (n.1524+7G=) c.2604+7G= (n.2604+7G=) c.2502+7G= (n.2502+7G=) c.1776+7G= (n.1776+7G=) | |
| 12 | g.21852361C>T | CA2021297838 | ABCC9 | c.2643+7G>A (n.2643+7G>A) n.220+7G>A c.*1741+7G>A (n.*1741+7G>A) n.2144+7G>A c.2592+7G>A (n.2592+7G>A) c.1524+7G>A (n.1524+7G>A) c.2604+7G>A (n.2604+7G>A) c.2502+7G>A (n.2502+7G>A) c.1776+7G>A (n.1776+7G>A) | dbSNP |
| 12 | g.21852362T>C | CA891843475 | ABCC9 | c.2643+6A>G (n.2643+6A>G) n.220+6A>G c.*1741+6A>G (n.*1741+6A>G) n.2144+6A>G c.2592+6A>G (n.2592+6A>G) c.1524+6A>G (n.1524+6A>G) c.2604+6A>G (n.2604+6A>G) c.2502+6A>G (n.2502+6A>G) c.1776+6A>G (n.1776+6A>G) | ClinVar dbSNP |
| 12 | g.21852362T= | CA2021297840 | ABCC9 | c.2643+6A= (n.2643+6A=) n.220+6A= c.*1741+6A= (n.*1741+6A=) n.2144+6A= c.2592+6A= (n.2592+6A=) c.1524+6A= (n.1524+6A=) c.2604+6A= (n.2604+6A=) c.2502+6A= (n.2502+6A=) c.1776+6A= (n.1776+6A=) | |
| 12 | g.21852363C>A | CA603967832 | ABCC9 | c.2643+5G>T (n.2643+5G>T) n.220+5G>T c.*1741+5G>T (n.*1741+5G>T) n.2144+5G>T c.2592+5G>T (n.2592+5G>T) c.1524+5G>T (n.1524+5G>T) c.2604+5G>T (n.2604+5G>T) c.2502+5G>T (n.2502+5G>T) c.1776+5G>T (n.1776+5G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21852363C= | CA2021297842 | ABCC9 | c.2643+5G= (n.2643+5G=) n.220+5G= c.*1741+5G= (n.*1741+5G=) n.2144+5G= c.2592+5G= (n.2592+5G=) c.1524+5G= (n.1524+5G=) c.2604+5G= (n.2604+5G=) c.2502+5G= (n.2502+5G=) c.1776+5G= (n.1776+5G=) | |
| 12 | g.21852363C>T | CA6481323 | ABCC9 | c.2643+5G>A (n.2643+5G>A) n.220+5G>A c.*1741+5G>A (n.*1741+5G>A) n.2144+5G>A c.2592+5G>A (n.2592+5G>A) c.1524+5G>A (n.1524+5G>A) c.2604+5G>A (n.2604+5G>A) c.2502+5G>A (n.2502+5G>A) c.1776+5G>A (n.1776+5G>A) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.21852365T>C | CA945522975 | ABCC9 | c.2643+3A>G (n.2643+3A>G) n.220+3A>G c.*1741+3A>G (n.*1741+3A>G) n.2144+3A>G c.2592+3A>G (n.2592+3A>G) c.1524+3A>G (n.1524+3A>G) c.2604+3A>G (n.2604+3A>G) c.2502+3A>G (n.2502+3A>G) c.1776+3A>G (n.1776+3A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21852365T= | CA2021297846 | ABCC9 | c.2643+3A= (n.2643+3A=) n.220+3A= c.*1741+3A= (n.*1741+3A=) n.2144+3A= c.2592+3A= (n.2592+3A=) c.1524+3A= (n.1524+3A=) c.2604+3A= (n.2604+3A=) c.2502+3A= (n.2502+3A=) c.1776+3A= (n.1776+3A=) | |
| 12 | g.21852366A>C | CA384124432 | ABCC9 | c.2643+2T>G (n.2643+2T>G) n.220+2T>G c.*1741+2T>G (n.*1741+2T>G) n.2144+2T>G c.2592+2T>G (n.2592+2T>G) c.1524+2T>G (n.1524+2T>G) c.2604+2T>G (n.2604+2T>G) c.2502+2T>G (n.2502+2T>G) c.1776+2T>G (n.1776+2T>G) | |
| 12 | g.21852366A>G | CA384124440 | ABCC9 | c.2643+2T>C (n.2643+2T>C) n.220+2T>C c.*1741+2T>C (n.*1741+2T>C) n.2144+2T>C c.2592+2T>C (n.2592+2T>C) c.1524+2T>C (n.1524+2T>C) c.2604+2T>C (n.2604+2T>C) c.2502+2T>C (n.2502+2T>C) c.1776+2T>C (n.1776+2T>C) | |
| 12 | g.21852366A>T | CA384124442 | ABCC9 | c.2643+2T>A (n.2643+2T>A) n.220+2T>A c.*1741+2T>A (n.*1741+2T>A) n.2144+2T>A c.2592+2T>A (n.2592+2T>A) c.1524+2T>A (n.1524+2T>A) c.2604+2T>A (n.2604+2T>A) c.2502+2T>A (n.2502+2T>A) c.1776+2T>A (n.1776+2T>A) | |
| 12 | g.21852367C>A | CA384124454 | ABCC9 | c.2643+1G>T (n.2643+1G>T) n.220+1G>T c.*1741+1G>T (n.*1741+1G>T) n.2144+1G>T c.2592+1G>T (n.2592+1G>T) c.1524+1G>T (n.1524+1G>T) c.2604+1G>T (n.2604+1G>T) c.2502+1G>T (n.2502+1G>T) c.1776+1G>T (n.1776+1G>T) | |
| 12 | g.21852367C>G | CA384124463 | ABCC9 | c.2643+1G>C (n.2643+1G>C) n.220+1G>C c.*1741+1G>C (n.*1741+1G>C) n.2144+1G>C c.2592+1G>C (n.2592+1G>C) c.1524+1G>C (n.1524+1G>C) c.2604+1G>C (n.2604+1G>C) c.2502+1G>C (n.2502+1G>C) c.1776+1G>C (n.1776+1G>C) | gnomAD v4 |
| 12 | g.21852367C>T | CA384124460 | ABCC9 | c.2643+1G>A (n.2643+1G>A) n.220+1G>A c.*1741+1G>A (n.*1741+1G>A) n.2144+1G>A c.2592+1G>A (n.2592+1G>A) c.1524+1G>A (n.1524+1G>A) c.2604+1G>A (n.2604+1G>A) c.2502+1G>A (n.2502+1G>A) c.1776+1G>A (n.1776+1G>A) | gnomAD v4 |
| 12 | g.21852368C>A | CA384124468 | ABCC9 | c.2643G>T (p.Trp881Cys) n.220G>T c.*1741G>T (n.*1741G>T) n.2144G>T c.2592G>T (p.Trp864Cys) c.1524G>T (p.Trp508Cys) c.2604G>T (p.Trp868Cys) c.2502G>T (p.Trp834Cys) c.1776G>T (p.Trp592Cys) | |
| 12 | g.21852368C>G | CA384124471 | ABCC9 | c.2643G>C (p.Trp881Cys) n.220G>C c.*1741G>C (n.*1741G>C) n.2144G>C c.2592G>C (p.Trp864Cys) c.1524G>C (p.Trp508Cys) c.2604G>C (p.Trp868Cys) c.2502G>C (p.Trp834Cys) c.1776G>C (p.Trp592Cys) | |
| 12 | g.21852368C>T | CA384124490 | ABCC9 | c.2643G>A (p.Trp881Ter) n.220G>A c.*1741G>A (n.*1741G>A) n.2144G>A c.2592G>A (p.Trp864Ter) c.1524G>A (p.Trp508Ter) c.2604G>A (p.Trp868Ter) c.2502G>A (p.Trp834Ter) c.1776G>A (p.Trp592Ter) | |
| 12 | g.21852369C>A | CA384124497 | ABCC9 | c.2642G>T (p.Trp881Leu) n.219G>T c.*1740G>T (n.*1740G>T) n.2143G>T c.2591G>T (p.Trp864Leu) c.1523G>T (p.Trp508Leu) c.2603G>T (p.Trp868Leu) c.2501G>T (p.Trp834Leu) c.1775G>T (p.Trp592Leu) | ClinVar |
| 12 | g.21852369C= | CA2021297848 | ABCC9 | c.2642G= (p.Trp881=) n.219G= c.*1740G= (n.*1740G=) n.2143G= c.2591G= (p.Trp864=) c.1523G= (p.Trp508=) c.2603G= (p.Trp868=) c.2501G= (p.Trp834=) c.1775G= (p.Trp592=) | |
| 12 | g.21852369C>G | CA384124499 | ABCC9 | c.2642G>C (p.Trp881Ser) n.219G>C c.*1740G>C (n.*1740G>C) n.2143G>C c.2591G>C (p.Trp864Ser) c.1523G>C (p.Trp508Ser) c.2603G>C (p.Trp868Ser) c.2501G>C (p.Trp834Ser) c.1775G>C (p.Trp592Ser) | |
| 12 | g.21852369C>T | CA384124503 | ABCC9 | c.2642G>A (p.Trp881Ter) n.219G>A c.*1740G>A (n.*1740G>A) n.2143G>A c.2591G>A (p.Trp864Ter) c.1523G>A (p.Trp508Ter) c.2603G>A (p.Trp868Ter) c.2501G>A (p.Trp834Ter) c.1775G>A (p.Trp592Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21852370A= | CA2021297849 | ABCC9 | c.2641T= (p.Trp881=) n.218T= c.*1739T= (n.*1739T=) n.2142T= c.2590T= (p.Trp864=) c.1522T= (p.Trp508=) c.2602T= (p.Trp868=) c.2500T= (p.Trp834=) c.1774T= (p.Trp592=) | |
| 12 | g.21852370A>C | CA384124507 | ABCC9 | c.2641T>G (p.Trp881Gly) n.218T>G c.*1739T>G (n.*1739T>G) n.2142T>G c.2590T>G (p.Trp864Gly) c.1522T>G (p.Trp508Gly) c.2602T>G (p.Trp868Gly) c.2500T>G (p.Trp834Gly) c.1774T>G (p.Trp592Gly) | |
| 12 | g.21852370A>G | CA6481324 | ABCC9 | c.2641T>C (p.Trp881Arg) n.218T>C c.*1739T>C (n.*1739T>C) n.2142T>C c.2590T>C (p.Trp864Arg) c.1522T>C (p.Trp508Arg) c.2602T>C (p.Trp868Arg) c.2500T>C (p.Trp834Arg) c.1774T>C (p.Trp592Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21852370A>T | CA384124510 | ABCC9 | c.2641T>A (p.Trp881Arg) n.218T>A c.*1739T>A (n.*1739T>A) n.2142T>A c.2590T>A (p.Trp864Arg) c.1522T>A (p.Trp508Arg) c.2602T>A (p.Trp868Arg) c.2500T>A (p.Trp834Arg) c.1774T>A (p.Trp592Arg) | |
| 12 | g.21852371G>A | CA478871958 | ABCC9 | c.2640C>T (p.Asp880=) n.217C>T c.*1738C>T (n.*1738C>T) n.2141C>T c.2589C>T (p.Asp863=) c.1521C>T (p.Asp507=) c.2601C>T (p.Asp867=) c.2499C>T (p.Asp833=) c.1773C>T (p.Asp591=) | |
| 12 | g.21852371G>C | CA384124512 | ABCC9 | c.2640C>G (p.Asp880Glu) n.217C>G c.*1738C>G (n.*1738C>G) n.2141C>G c.2589C>G (p.Asp863Glu) c.1521C>G (p.Asp507Glu) c.2601C>G (p.Asp867Glu) c.2499C>G (p.Asp833Glu) c.1773C>G (p.Asp591Glu) | |
| 12 | g.21852371G>T | CA384124514 | ABCC9 | c.2640C>A (p.Asp880Glu) n.217C>A c.*1738C>A (n.*1738C>A) n.2141C>A c.2589C>A (p.Asp863Glu) c.1521C>A (p.Asp507Glu) c.2601C>A (p.Asp867Glu) c.2499C>A (p.Asp833Glu) c.1773C>A (p.Asp591Glu) | |
| 12 | g.21852372T>A | CA384124530 | ABCC9 | c.2639A>T (p.Asp880Val) n.216A>T c.*1737A>T (n.*1737A>T) n.2140A>T c.2588A>T (p.Asp863Val) c.1520A>T (p.Asp507Val) c.2600A>T (p.Asp867Val) c.2498A>T (p.Asp833Val) c.1772A>T (p.Asp591Val) | |
| 12 | g.21852372T>C | CA384124526 | ABCC9 | c.2639A>G (p.Asp880Gly) n.216A>G c.*1737A>G (n.*1737A>G) n.2140A>G c.2588A>G (p.Asp863Gly) c.1520A>G (p.Asp507Gly) c.2600A>G (p.Asp867Gly) c.2498A>G (p.Asp833Gly) c.1772A>G (p.Asp591Gly) | |
| 12 | g.21852372T>G | CA384124523 | ABCC9 | c.2639A>C (p.Asp880Ala) n.216A>C c.*1737A>C (n.*1737A>C) n.2140A>C c.2588A>C (p.Asp863Ala) c.1520A>C (p.Asp507Ala) c.2600A>C (p.Asp867Ala) c.2498A>C (p.Asp833Ala) c.1772A>C (p.Asp591Ala) | |
| 12 | g.21852373C>A | CA6481325 | ABCC9 | c.2638G>T (p.Asp880Tyr) n.215G>T c.*1736G>T (n.*1736G>T) n.2139G>T c.2587G>T (p.Asp863Tyr) c.1519G>T (p.Asp507Tyr) c.2599G>T (p.Asp867Tyr) c.2497G>T (p.Asp833Tyr) c.1771G>T (p.Asp591Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21852373C= | CA2021297852 | ABCC9 | c.2638G= (p.Asp880=) n.215G= c.*1736G= (n.*1736G=) n.2139G= c.2587G= (p.Asp863=) c.1519G= (p.Asp507=) c.2599G= (p.Asp867=) c.2497G= (p.Asp833=) c.1771G= (p.Asp591=) | |
| 12 | g.21852373C>G | CA384124551 | ABCC9 | c.2638G>C (p.Asp880His) n.215G>C c.*1736G>C (n.*1736G>C) n.2139G>C c.2587G>C (p.Asp863His) c.1519G>C (p.Asp507His) c.2599G>C (p.Asp867His) c.2497G>C (p.Asp833His) c.1771G>C (p.Asp591His) | |
| 12 | g.21852373C>T | CA384124548 | ABCC9 | c.2638G>A (p.Asp880Asn) n.215G>A c.*1736G>A (n.*1736G>A) n.2139G>A c.2587G>A (p.Asp863Asn) c.1519G>A (p.Asp507Asn) c.2599G>A (p.Asp867Asn) c.2497G>A (p.Asp833Asn) c.1771G>A (p.Asp591Asn) | |
| 12 | g.21852374A>C | CA478871961 | ABCC9 | c.2637T>G (p.Ala879=) n.214T>G c.*1735T>G (n.*1735T>G) n.2138T>G c.2586T>G (p.Ala862=) c.1518T>G (p.Ala506=) c.2598T>G (p.Ala866=) c.2496T>G (p.Ala832=) c.1770T>G (p.Ala590=) | |
| 12 | g.21852374A>G | CA478871962 | ABCC9 | c.2637T>C (p.Ala879=) n.214T>C c.*1735T>C (n.*1735T>C) n.2138T>C c.2586T>C (p.Ala862=) c.1518T>C (p.Ala506=) c.2598T>C (p.Ala866=) c.2496T>C (p.Ala832=) c.1770T>C (p.Ala590=) | |
| 12 | g.21852374A>T | CA478871963 | ABCC9 | c.2637T>A (p.Ala879=) n.214T>A c.*1735T>A (n.*1735T>A) n.2138T>A c.2586T>A (p.Ala862=) c.1518T>A (p.Ala506=) c.2598T>A (p.Ala866=) c.2496T>A (p.Ala832=) c.1770T>A (p.Ala590=) | |
| 12 | g.21852375G>A | CA384124557 | ABCC9 | c.2636C>T (p.Ala879Val) n.213C>T c.*1734C>T (n.*1734C>T) n.2137C>T c.2585C>T (p.Ala862Val) c.1517C>T (p.Ala506Val) c.2597C>T (p.Ala866Val) c.2495C>T (p.Ala832Val) c.1769C>T (p.Ala590Val) | |
| 12 | g.21852375G>C | CA384124560 | ABCC9 | c.2636C>G (p.Ala879Gly) n.213C>G c.*1734C>G (n.*1734C>G) n.2137C>G c.2585C>G (p.Ala862Gly) c.1517C>G (p.Ala506Gly) c.2597C>G (p.Ala866Gly) c.2495C>G (p.Ala832Gly) c.1769C>G (p.Ala590Gly) | |
| 12 | g.21852375G>T | CA384124558 | ABCC9 | c.2636C>A (p.Ala879Asp) n.213C>A c.*1734C>A (n.*1734C>A) n.2137C>A c.2585C>A (p.Ala862Asp) c.1517C>A (p.Ala506Asp) c.2597C>A (p.Ala866Asp) c.2495C>A (p.Ala832Asp) c.1769C>A (p.Ala590Asp) | |
| 12 | g.21852376C>A | CA384124564 | ABCC9 | c.2635G>T (p.Ala879Ser) n.212G>T c.*1733G>T (n.*1733G>T) n.2136G>T c.2584G>T (p.Ala862Ser) c.1516G>T (p.Ala506Ser) c.2596G>T (p.Ala866Ser) c.2494G>T (p.Ala832Ser) c.1768G>T (p.Ala590Ser) | |
| 12 | g.21852376C>G | CA384124568 | ABCC9 | c.2635G>C (p.Ala879Pro) n.212G>C c.*1733G>C (n.*1733G>C) n.2136G>C c.2584G>C (p.Ala862Pro) c.1516G>C (p.Ala506Pro) c.2596G>C (p.Ala866Pro) c.2494G>C (p.Ala832Pro) c.1768G>C (p.Ala590Pro) | |
| 12 | g.21852376C>T | CA384124577 | ABCC9 | c.2635G>A (p.Ala879Thr) n.212G>A c.*1733G>A (n.*1733G>A) n.2136G>A c.2584G>A (p.Ala862Thr) c.1516G>A (p.Ala506Thr) c.2596G>A (p.Ala866Thr) c.2494G>A (p.Ala832Thr) c.1768G>A (p.Ala590Thr) | |
| 12 | g.21852377A>C | CA384124581 | ABCC9 | c.2634T>G (p.His878Gln) n.211T>G c.*1732T>G (n.*1732T>G) n.2135T>G c.2583T>G (p.His861Gln) c.1515T>G (p.His505Gln) c.2595T>G (p.His865Gln) c.2493T>G (p.His831Gln) c.1767T>G (p.His589Gln) | |
| 12 | g.21852377A>G | CA478871968 | ABCC9 | c.2634T>C (p.His878=) n.211T>C c.*1732T>C (n.*1732T>C) n.2135T>C c.2583T>C (p.His861=) c.1515T>C (p.His505=) c.2595T>C (p.His865=) c.2493T>C (p.His831=) c.1767T>C (p.His589=) | |
| 12 | g.21852377A>T | CA384124584 | ABCC9 | c.2634T>A (p.His878Gln) n.211T>A c.*1732T>A (n.*1732T>A) n.2135T>A c.2583T>A (p.His861Gln) c.1515T>A (p.His505Gln) c.2595T>A (p.His865Gln) c.2493T>A (p.His831Gln) c.1767T>A (p.His589Gln) | |
| 12 | g.21852378T>A | CA384124588 | ABCC9 | c.2633A>T (p.His878Leu) n.210A>T c.*1731A>T (n.*1731A>T) n.2134A>T c.2582A>T (p.His861Leu) c.1514A>T (p.His505Leu) c.2594A>T (p.His865Leu) c.2492A>T (p.His831Leu) c.1766A>T (p.His589Leu) | gnomAD v4 |
| 12 | g.21852378T>C | CA384124591 | ABCC9 | c.2633A>G (p.His878Arg) n.210A>G c.*1731A>G (n.*1731A>G) n.2134A>G c.2582A>G (p.His861Arg) c.1514A>G (p.His505Arg) c.2594A>G (p.His865Arg) c.2492A>G (p.His831Arg) c.1766A>G (p.His589Arg) | |
| 12 | g.21852378T>G | CA384124593 | ABCC9 | c.2633A>C (p.His878Pro) n.210A>C c.*1731A>C (n.*1731A>C) n.2134A>C c.2582A>C (p.His861Pro) c.1514A>C (p.His505Pro) c.2594A>C (p.His865Pro) c.2492A>C (p.His831Pro) c.1766A>C (p.His589Pro) | |
| 12 | g.21852379G>A | CA6481326 | ABCC9 | c.2632C>T (p.His878Tyr) n.209C>T c.*1730C>T (n.*1730C>T) n.2133C>T c.2581C>T (p.His861Tyr) c.1513C>T (p.His505Tyr) c.2593C>T (p.His865Tyr) c.2491C>T (p.His831Tyr) c.1765C>T (p.His589Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21852379G>C | CA384124599 | ABCC9 | c.2632C>G (p.His878Asp) n.209C>G c.*1730C>G (n.*1730C>G) n.2133C>G c.2581C>G (p.His861Asp) c.1513C>G (p.His505Asp) c.2593C>G (p.His865Asp) c.2491C>G (p.His831Asp) c.1765C>G (p.His589Asp) | |
| 12 | g.21852379G= | CA2021297856 | ABCC9 | c.2632C= (p.His878=) n.209C= c.*1730C= (n.*1730C=) n.2133C= c.2581C= (p.His861=) c.1513C= (p.His505=) c.2593C= (p.His865=) c.2491C= (p.His831=) c.1765C= (p.His589=) | |
| 12 | g.21852379G>T | CA384124602 | ABCC9 | c.2632C>A (p.His878Asn) n.209C>A c.*1730C>A (n.*1730C>A) n.2133C>A c.2581C>A (p.His861Asn) c.1513C>A (p.His505Asn) c.2593C>A (p.His865Asn) c.2491C>A (p.His831Asn) c.1765C>A (p.His589Asn) | gnomAD v4 |
| 12 | g.21852380C>A | CA233599775 | ABCC9 | c.2631G>T (p.Thr877=) n.208G>T c.*1729G>T (n.*1729G>T) n.2132G>T c.2580G>T (p.Thr860=) c.1512G>T (p.Thr504=) c.2592G>T (p.Thr864=) c.2490G>T (p.Thr830=) c.1764G>T (p.Thr588=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21852380C= | CA2021297866 | ABCC9 | c.2631G= (p.Thr877=) n.208G= c.*1729G= (n.*1729G=) n.2132G= c.2580G= (p.Thr860=) c.1512G= (p.Thr504=) c.2592G= (p.Thr864=) c.2490G= (p.Thr830=) c.1764G= (p.Thr588=) | |
| 12 | g.21852380C>G | CA478871973 | ABCC9 | c.2631G>C (p.Thr877=) n.208G>C c.*1729G>C (n.*1729G>C) n.2132G>C c.2580G>C (p.Thr860=) c.1512G>C (p.Thr504=) c.2592G>C (p.Thr864=) c.2490G>C (p.Thr830=) c.1764G>C (p.Thr588=) | |
| 12 | g.21852380C>T | CA282538 | ABCC9 | c.2631G>A (p.Thr877=) n.208G>A c.*1729G>A (n.*1729G>A) n.2132G>A c.2580G>A (p.Thr860=) c.1512G>A (p.Thr504=) c.2592G>A (p.Thr864=) c.2490G>A (p.Thr830=) c.1764G>A (p.Thr588=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21852381G>A | CA6481327 | ABCC9 | c.2630C>T (p.Thr877Met) n.207C>T c.*1728C>T (n.*1728C>T) n.2131C>T c.2579C>T (p.Thr860Met) c.1511C>T (p.Thr504Met) c.2591C>T (p.Thr864Met) c.2489C>T (p.Thr830Met) c.1763C>T (p.Thr588Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21852381G>C | CA384124613 | ABCC9 | c.2630C>G (p.Thr877Arg) n.207C>G c.*1728C>G (n.*1728C>G) n.2131C>G c.2579C>G (p.Thr860Arg) c.1511C>G (p.Thr504Arg) c.2591C>G (p.Thr864Arg) c.2489C>G (p.Thr830Arg) c.1763C>G (p.Thr588Arg) | gnomAD v4 |
| 12 | g.21852381G= | CA2021297873 | ABCC9 | c.2630C= (p.Thr877=) n.207C= c.*1728C= (n.*1728C=) n.2131C= c.2579C= (p.Thr860=) c.1511C= (p.Thr504=) c.2591C= (p.Thr864=) c.2489C= (p.Thr830=) c.1763C= (p.Thr588=) | |
| 12 | g.21852381G>T | CA384124606 | ABCC9 | c.2630C>A (p.Thr877Lys) n.207C>A c.*1728C>A (n.*1728C>A) n.2131C>A c.2579C>A (p.Thr860Lys) c.1511C>A (p.Thr504Lys) c.2591C>A (p.Thr864Lys) c.2489C>A (p.Thr830Lys) c.1763C>A (p.Thr588Lys) | |
| 12 | g.21852382T>A | CA384124616 | ABCC9 | c.2629A>T (p.Thr877Ser) n.206A>T c.*1727A>T (n.*1727A>T) n.2130A>T c.2578A>T (p.Thr860Ser) c.1510A>T (p.Thr504Ser) c.2590A>T (p.Thr864Ser) c.2488A>T (p.Thr830Ser) c.1762A>T (p.Thr588Ser) | |
| 12 | g.21852382T>C | CA384124624 | ABCC9 | c.2629A>G (p.Thr877Ala) n.206A>G c.*1727A>G (n.*1727A>G) n.2130A>G c.2578A>G (p.Thr860Ala) c.1510A>G (p.Thr504Ala) c.2590A>G (p.Thr864Ala) c.2488A>G (p.Thr830Ala) c.1762A>G (p.Thr588Ala) | |
| 12 | g.21852382T>G | CA384124640 | ABCC9 | c.2629A>C (p.Thr877Pro) n.206A>C c.*1727A>C (n.*1727A>C) n.2130A>C c.2578A>C (p.Thr860Pro) c.1510A>C (p.Thr504Pro) c.2590A>C (p.Thr864Pro) c.2488A>C (p.Thr830Pro) c.1762A>C (p.Thr588Pro) | |
| 12 | g.21852383C>A | CA478871977 | ABCC9 | c.2628G>T (p.Leu876=) n.205G>T c.*1726G>T (n.*1726G>T) n.2129G>T c.2577G>T (p.Leu859=) c.1509G>T (p.Leu503=) c.2589G>T (p.Leu863=) c.2487G>T (p.Leu829=) c.1761G>T (p.Leu587=) | |
| 12 | g.21852383C>G | CA478871978 | ABCC9 | c.2628G>C (p.Leu876=) n.205G>C c.*1726G>C (n.*1726G>C) n.2129G>C c.2577G>C (p.Leu859=) c.1509G>C (p.Leu503=) c.2589G>C (p.Leu863=) c.2487G>C (p.Leu829=) c.1761G>C (p.Leu587=) | |
| 12 | g.21852383C>T | CA478871980 | ABCC9 | c.2628G>A (p.Leu876=) n.205G>A c.*1726G>A (n.*1726G>A) n.2129G>A c.2577G>A (p.Leu859=) c.1509G>A (p.Leu503=) c.2589G>A (p.Leu863=) c.2487G>A (p.Leu829=) c.1761G>A (p.Leu587=) | gnomAD v4 |
| 12 | g.21852384A= | CA2021297877 | ABCC9 | c.2627T= (p.Leu876=) n.204T= c.*1725T= (n.*1725T=) n.2128T= c.2576T= (p.Leu859=) c.1508T= (p.Leu503=) c.2588T= (p.Leu863=) c.2486T= (p.Leu829=) c.1760T= (p.Leu587=) | |
| 12 | g.21852384A>C | CA384124644 | ABCC9 | c.2627T>G (p.Leu876Arg) n.204T>G c.*1725T>G (n.*1725T>G) n.2128T>G c.2576T>G (p.Leu859Arg) c.1508T>G (p.Leu503Arg) c.2588T>G (p.Leu863Arg) c.2486T>G (p.Leu829Arg) c.1760T>G (p.Leu587Arg) | dbSNP gnomAD v2 |
| 12 | g.21852384A>G | CA384124645 | ABCC9 | c.2627T>C (p.Leu876Pro) n.204T>C c.*1725T>C (n.*1725T>C) n.2128T>C c.2576T>C (p.Leu859Pro) c.1508T>C (p.Leu503Pro) c.2588T>C (p.Leu863Pro) c.2486T>C (p.Leu829Pro) c.1760T>C (p.Leu587Pro) | |
| 12 | g.21852384A>T | CA384124646 | ABCC9 | c.2627T>A (p.Leu876Gln) n.204T>A c.*1725T>A (n.*1725T>A) n.2128T>A c.2576T>A (p.Leu859Gln) c.1508T>A (p.Leu503Gln) c.2588T>A (p.Leu863Gln) c.2486T>A (p.Leu829Gln) c.1760T>A (p.Leu587Gln) | |
| 12 | g.21852385G>A | CA478871985 | ABCC9 | c.2626C>T (p.Leu876=) n.203C>T c.*1724C>T (n.*1724C>T) n.2127C>T c.2575C>T (p.Leu859=) c.1507C>T (p.Leu503=) c.2587C>T (p.Leu863=) c.2485C>T (p.Leu829=) c.1759C>T (p.Leu587=) | dbSNP |
| 12 | g.21852385G>C | CA384124647 | ABCC9 | c.2626C>G (p.Leu876Val) n.203C>G c.*1724C>G (n.*1724C>G) n.2127C>G c.2575C>G (p.Leu859Val) c.1507C>G (p.Leu503Val) c.2587C>G (p.Leu863Val) c.2485C>G (p.Leu829Val) c.1759C>G (p.Leu587Val) | |
| 12 | g.21852385G= | CA2021297879 | ABCC9 | c.2626C= (p.Leu876=) n.203C= c.*1724C= (n.*1724C=) n.2127C= c.2575C= (p.Leu859=) c.1507C= (p.Leu503=) c.2587C= (p.Leu863=) c.2485C= (p.Leu829=) c.1759C= (p.Leu587=) | |
| 12 | g.21852385G>T | CA384124650 | ABCC9 | c.2626C>A (p.Leu876Met) n.203C>A c.*1724C>A (n.*1724C>A) n.2127C>A c.2575C>A (p.Leu859Met) c.1507C>A (p.Leu503Met) c.2587C>A (p.Leu863Met) c.2485C>A (p.Leu829Met) c.1759C>A (p.Leu587Met) | |
| 12 | g.21852386A= | CA2021297880 | ABCC9 | c.2625T= (p.Tyr875=) n.202T= c.*1723T= (n.*1723T=) n.2126T= c.2574T= (p.Tyr858=) c.1506T= (p.Tyr502=) c.2586T= (p.Tyr862=) c.2484T= (p.Tyr828=) c.1758T= (p.Tyr586=) | |
| 12 | g.21852386A>C | CA384124655 | ABCC9 | c.2625T>G (p.Tyr875Ter) n.202T>G c.*1723T>G (n.*1723T>G) n.2126T>G c.2574T>G (p.Tyr858Ter) c.1506T>G (p.Tyr502Ter) c.2586T>G (p.Tyr862Ter) c.2484T>G (p.Tyr828Ter) c.1758T>G (p.Tyr586Ter) | |
| 12 | g.21852386A>G | CA478871987 | ABCC9 | c.2625T>C (p.Tyr875=) n.202T>C c.*1723T>C (n.*1723T>C) n.2126T>C c.2574T>C (p.Tyr858=) c.1506T>C (p.Tyr502=) c.2586T>C (p.Tyr862=) c.2484T>C (p.Tyr828=) c.1758T>C (p.Tyr586=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21852386A>T | CA384124656 | ABCC9 | c.2625T>A (p.Tyr875Ter) n.202T>A c.*1723T>A (n.*1723T>A) n.2126T>A c.2574T>A (p.Tyr858Ter) c.1506T>A (p.Tyr502Ter) c.2586T>A (p.Tyr862Ter) c.2484T>A (p.Tyr828Ter) c.1758T>A (p.Tyr586Ter) | ClinVar |
| 12 | g.21852387T>A | CA384124659 | ABCC9 | c.2624A>T (p.Tyr875Phe) n.201A>T c.*1722A>T (n.*1722A>T) n.2125A>T c.2573A>T (p.Tyr858Phe) c.1505A>T (p.Tyr502Phe) c.2585A>T (p.Tyr862Phe) c.2483A>T (p.Tyr828Phe) c.1757A>T (p.Tyr586Phe) | |
| 12 | g.21852387T>C | CA384124665 | ABCC9 | c.2624A>G (p.Tyr875Cys) n.201A>G c.*1722A>G (n.*1722A>G) n.2125A>G c.2573A>G (p.Tyr858Cys) c.1505A>G (p.Tyr502Cys) c.2585A>G (p.Tyr862Cys) c.2483A>G (p.Tyr828Cys) c.1757A>G (p.Tyr586Cys) | |
| 12 | g.21852387T>G | CA384124679 | ABCC9 | c.2624A>C (p.Tyr875Ser) n.201A>C c.*1722A>C (n.*1722A>C) n.2125A>C c.2573A>C (p.Tyr858Ser) c.1505A>C (p.Tyr502Ser) c.2585A>C (p.Tyr862Ser) c.2483A>C (p.Tyr828Ser) c.1757A>C (p.Tyr586Ser) | |
| 12 | g.21852388A>C | CA384124684 | ABCC9 | c.2623T>G (p.Tyr875Asp) n.200T>G c.*1721T>G (n.*1721T>G) n.2124T>G c.2572T>G (p.Tyr858Asp) c.1504T>G (p.Tyr502Asp) c.2584T>G (p.Tyr862Asp) c.2482T>G (p.Tyr828Asp) c.1756T>G (p.Tyr586Asp) | gnomAD v4 |
| 12 | g.21852388A>G | CA384124688 | ABCC9 | c.2623T>C (p.Tyr875His) n.200T>C c.*1721T>C (n.*1721T>C) n.2124T>C c.2572T>C (p.Tyr858His) c.1504T>C (p.Tyr502His) c.2584T>C (p.Tyr862His) c.2482T>C (p.Tyr828His) c.1756T>C (p.Tyr586His) | |
| 12 | g.21852388A>T | CA384124682 | ABCC9 | c.2623T>A (p.Tyr875Asn) n.200T>A c.*1721T>A (n.*1721T>A) n.2124T>A c.2572T>A (p.Tyr858Asn) c.1504T>A (p.Tyr502Asn) c.2584T>A (p.Tyr862Asn) c.2482T>A (p.Tyr828Asn) c.1756T>A (p.Tyr586Asn) | |
| 12 | g.21852388dup | CA2617932322 | ABCC9 | c.2623dup (p.Tyr875LeufsTer6) n.200dup c.*1721dup (n.*1721dup) n.2124dup c.2572dup (p.Tyr858LeufsTer6) c.1504dup (p.Tyr502LeufsTer6) c.2584dup (p.Tyr862LeufsTer6) c.2482dup (p.Tyr828LeufsTer6) c.1756dup (p.Tyr586LeufsTer6) | gnomAD v4 |
| 12 | g.21852389C>A | CA384124697 | ABCC9 | c.2622G>T (p.Gln874His) n.199G>T c.*1720G>T (n.*1720G>T) n.2123G>T c.2571G>T (p.Gln857His) c.1503G>T (p.Gln501His) c.2583G>T (p.Gln861His) c.2481G>T (p.Gln827His) c.1755G>T (p.Gln585His) | |
| 12 | g.21852389C= | CA2021297885 | ABCC9 | c.2622G= (p.Gln874=) n.199G= c.*1720G= (n.*1720G=) n.2123G= c.2571G= (p.Gln857=) c.1503G= (p.Gln501=) c.2583G= (p.Gln861=) c.2481G= (p.Gln827=) c.1755G= (p.Gln585=) | |
| 12 | g.21852389C>G | CA384124702 | ABCC9 | c.2622G>C (p.Gln874His) n.199G>C c.*1720G>C (n.*1720G>C) n.2123G>C c.2571G>C (p.Gln857His) c.1503G>C (p.Gln501His) c.2583G>C (p.Gln861His) c.2481G>C (p.Gln827His) c.1755G>C (p.Gln585His) | |
| 12 | g.21852389C>T | CA6481328 | ABCC9 | c.2622G>A (p.Gln874=) n.199G>A c.*1720G>A (n.*1720G>A) n.2123G>A c.2571G>A (p.Gln857=) c.1503G>A (p.Gln501=) c.2583G>A (p.Gln861=) c.2481G>A (p.Gln827=) c.1755G>A (p.Gln585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21852390T>A | CA384124706 | ABCC9 | c.2621A>T (p.Gln874Leu) n.198A>T c.*1719A>T (n.*1719A>T) n.2122A>T c.2570A>T (p.Gln857Leu) c.1502A>T (p.Gln501Leu) c.2582A>T (p.Gln861Leu) c.2480A>T (p.Gln827Leu) c.1754A>T (p.Gln585Leu) | |
| 12 | g.21852390T>C | CA384124709 | ABCC9 | c.2621A>G (p.Gln874Arg) n.198A>G c.*1719A>G (n.*1719A>G) n.2122A>G c.2570A>G (p.Gln857Arg) c.1502A>G (p.Gln501Arg) c.2582A>G (p.Gln861Arg) c.2480A>G (p.Gln827Arg) c.1754A>G (p.Gln585Arg) | dbSNP gnomAD v4 |
| 12 | g.21852390T>G | CA384124710 | ABCC9 | c.2621A>C (p.Gln874Pro) n.198A>C c.*1719A>C (n.*1719A>C) n.2122A>C c.2570A>C (p.Gln857Pro) c.1502A>C (p.Gln501Pro) c.2582A>C (p.Gln861Pro) c.2480A>C (p.Gln827Pro) c.1754A>C (p.Gln585Pro) | |
| 12 | g.21852390T= | CA2021297888 | ABCC9 | c.2621A= (p.Gln874=) n.198A= c.*1719A= (n.*1719A=) n.2122A= c.2570A= (p.Gln857=) c.1502A= (p.Gln501=) c.2582A= (p.Gln861=) c.2480A= (p.Gln827=) c.1754A= (p.Gln585=) | |
| 12 | g.21852391G>A | CA384124712 | ABCC9 | c.2620C>T (p.Gln874Ter) n.197C>T c.*1718C>T (n.*1718C>T) n.2121C>T c.2569C>T (p.Gln857Ter) c.1501C>T (p.Gln501Ter) c.2581C>T (p.Gln861Ter) c.2479C>T (p.Gln827Ter) c.1753C>T (p.Gln585Ter) | gnomAD v3 gnomAD v4 |
| 12 | g.21852391G>C | CA384124713 | ABCC9 | c.2620C>G (p.Gln874Glu) n.197C>G c.*1718C>G (n.*1718C>G) n.2121C>G c.2569C>G (p.Gln857Glu) c.1501C>G (p.Gln501Glu) c.2581C>G (p.Gln861Glu) c.2479C>G (p.Gln827Glu) c.1753C>G (p.Gln585Glu) | |
| 12 | g.21852391G>T | CA384124714 | ABCC9 | c.2620C>A (p.Gln874Lys) n.197C>A c.*1718C>A (n.*1718C>A) n.2121C>A c.2569C>A (p.Gln857Lys) c.1501C>A (p.Gln501Lys) c.2581C>A (p.Gln861Lys) c.2479C>A (p.Gln827Lys) c.1753C>A (p.Gln585Lys) | |
| 12 | g.21852392T>A | CA384124716 | ABCC9 | c.2619A>T (p.Leu873Phe) n.196A>T c.*1717A>T (n.*1717A>T) n.2120A>T c.2568A>T (p.Leu856Phe) c.1500A>T (p.Leu500Phe) c.2580A>T (p.Leu860Phe) c.2478A>T (p.Leu826Phe) c.1752A>T (p.Leu584Phe) | |
| 12 | g.21852392T>C | CA478871992 | ABCC9 | c.2619A>G (p.Leu873=) n.196A>G c.*1717A>G (n.*1717A>G) n.2120A>G c.2568A>G (p.Leu856=) c.1500A>G (p.Leu500=) c.2580A>G (p.Leu860=) c.2478A>G (p.Leu826=) c.1752A>G (p.Leu584=) | |
| 12 | g.21852392T>G | CA384124719 | ABCC9 | c.2619A>C (p.Leu873Phe) n.196A>C c.*1717A>C (n.*1717A>C) n.2120A>C c.2568A>C (p.Leu856Phe) c.1500A>C (p.Leu500Phe) c.2580A>C (p.Leu860Phe) c.2478A>C (p.Leu826Phe) c.1752A>C (p.Leu584Phe) | |
| 12 | g.21852393A>C | CA384124731 | ABCC9 | c.2618T>G (p.Leu873Ter) n.195T>G c.*1716T>G (n.*1716T>G) n.2119T>G c.2567T>G (p.Leu856Ter) c.1499T>G (p.Leu500Ter) c.2579T>G (p.Leu860Ter) c.2477T>G (p.Leu826Ter) c.1751T>G (p.Leu584Ter) | |
| 12 | g.21852393A>G | CA384124723 | ABCC9 | c.2618T>C (p.Leu873Ser) n.195T>C c.*1716T>C (n.*1716T>C) n.2119T>C c.2567T>C (p.Leu856Ser) c.1499T>C (p.Leu500Ser) c.2579T>C (p.Leu860Ser) c.2477T>C (p.Leu826Ser) c.1751T>C (p.Leu584Ser) | |
| 12 | g.21852393A>T | CA384124730 | ABCC9 | c.2618T>A (p.Leu873Ter) n.195T>A c.*1716T>A (n.*1716T>A) n.2119T>A c.2567T>A (p.Leu856Ter) c.1499T>A (p.Leu500Ter) c.2579T>A (p.Leu860Ter) c.2477T>A (p.Leu826Ter) c.1751T>A (p.Leu584Ter) | |
| 12 | g.21852394A>C | CA384124732 | ABCC9 | c.2617T>G (p.Leu873Val) n.194T>G c.*1715T>G (n.*1715T>G) n.2118T>G c.2566T>G (p.Leu856Val) c.1498T>G (p.Leu500Val) c.2578T>G (p.Leu860Val) c.2476T>G (p.Leu826Val) c.1750T>G (p.Leu584Val) | |
| 12 | g.21852394A>G | CA478871995 | ABCC9 | c.2617T>C (p.Leu873=) n.194T>C c.*1715T>C (n.*1715T>C) n.2118T>C c.2566T>C (p.Leu856=) c.1498T>C (p.Leu500=) c.2578T>C (p.Leu860=) c.2476T>C (p.Leu826=) c.1750T>C (p.Leu584=) | |
| 12 | g.21852394A>T | CA384124733 | ABCC9 | c.2617T>A (p.Leu873Ile) n.194T>A c.*1715T>A (n.*1715T>A) n.2118T>A c.2566T>A (p.Leu856Ile) c.1498T>A (p.Leu500Ile) c.2578T>A (p.Leu860Ile) c.2476T>A (p.Leu826Ile) c.1750T>A (p.Leu584Ile) | |
| 12 | g.21852395T>A | CA384124734 | ABCC9 | c.2616A>T (p.Lys872Asn) n.193A>T c.*1714A>T (n.*1714A>T) n.2117A>T c.2565A>T (p.Lys855Asn) c.1497A>T (p.Lys499Asn) c.2577A>T (p.Lys859Asn) c.2475A>T (p.Lys825Asn) c.1749A>T (p.Lys583Asn) | |
| 12 | g.21852395T>C | CA6481329 | ABCC9 | c.2616A>G (p.Lys872=) n.193A>G c.*1714A>G (n.*1714A>G) n.2117A>G c.2565A>G (p.Lys855=) c.1497A>G (p.Lys499=) c.2577A>G (p.Lys859=) c.2475A>G (p.Lys825=) c.1749A>G (p.Lys583=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21852395T>G | CA384124738 | ABCC9 | c.2616A>C (p.Lys872Asn) n.193A>C c.*1714A>C (n.*1714A>C) n.2117A>C c.2565A>C (p.Lys855Asn) c.1497A>C (p.Lys499Asn) c.2577A>C (p.Lys859Asn) c.2475A>C (p.Lys825Asn) c.1749A>C (p.Lys583Asn) | |
| 12 | g.21852395T= | CA2021297890 | ABCC9 | c.2616A= (p.Lys872=) n.193A= c.*1714A= (n.*1714A=) n.2117A= c.2565A= (p.Lys855=) c.1497A= (p.Lys499=) c.2577A= (p.Lys859=) c.2475A= (p.Lys825=) c.1749A= (p.Lys583=) | |
| 12 | g.21852396T>A | CA384124740 | ABCC9 | c.2615A>T (p.Lys872Ile) n.192A>T c.*1713A>T (n.*1713A>T) n.2116A>T c.2564A>T (p.Lys855Ile) c.1496A>T (p.Lys499Ile) c.2576A>T (p.Lys859Ile) c.2474A>T (p.Lys825Ile) c.1748A>T (p.Lys583Ile) | |
| 12 | g.21852396T>C | CA384124741 | ABCC9 | c.2615A>G (p.Lys872Arg) n.192A>G c.*1713A>G (n.*1713A>G) n.2116A>G c.2564A>G (p.Lys855Arg) c.1496A>G (p.Lys499Arg) c.2576A>G (p.Lys859Arg) c.2474A>G (p.Lys825Arg) c.1748A>G (p.Lys583Arg) | ClinVar dbSNP |
| 12 | g.21852396T>G | CA384124742 | ABCC9 | c.2615A>C (p.Lys872Thr) n.192A>C c.*1713A>C (n.*1713A>C) n.2116A>C c.2564A>C (p.Lys855Thr) c.1496A>C (p.Lys499Thr) c.2576A>C (p.Lys859Thr) c.2474A>C (p.Lys825Thr) c.1748A>C (p.Lys583Thr) | |
| 12 | g.21852396T= | CA2021297893 | ABCC9 | c.2615A= (p.Lys872=) n.192A= c.*1713A= (n.*1713A=) n.2116A= c.2564A= (p.Lys855=) c.1496A= (p.Lys499=) c.2576A= (p.Lys859=) c.2474A= (p.Lys825=) c.1748A= (p.Lys583=) | |
| 12 | g.21852397T>A | CA384124746 | ABCC9 | c.2614A>T (p.Lys872Ter) n.191A>T c.*1712A>T (n.*1712A>T) n.2115A>T c.2563A>T (p.Lys855Ter) c.1495A>T (p.Lys499Ter) c.2575A>T (p.Lys859Ter) c.2473A>T (p.Lys825Ter) c.1747A>T (p.Lys583Ter) | |
| 12 | g.21852397T>C | CA384124747 | ABCC9 | c.2614A>G (p.Lys872Glu) n.191A>G c.*1712A>G (n.*1712A>G) n.2115A>G c.2563A>G (p.Lys855Glu) c.1495A>G (p.Lys499Glu) c.2575A>G (p.Lys859Glu) c.2473A>G (p.Lys825Glu) c.1747A>G (p.Lys583Glu) | |
| 12 | g.21852397T>G | CA384124750 | ABCC9 | c.2614A>C (p.Lys872Gln) n.191A>C c.*1712A>C (n.*1712A>C) n.2115A>C c.2563A>C (p.Lys855Gln) c.1495A>C (p.Lys499Gln) c.2575A>C (p.Lys859Gln) c.2473A>C (p.Lys825Gln) c.1747A>C (p.Lys583Gln) | |
| 12 | g.21852398G>A | CA6481330 | ABCC9 | c.2613C>T (p.His871=) n.190C>T c.*1711C>T (n.*1711C>T) n.2114C>T c.2562C>T (p.His854=) c.1494C>T (p.His498=) c.2574C>T (p.His858=) c.2472C>T (p.His824=) c.1746C>T (p.His582=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21852398G>C | CA384124757 | ABCC9 | c.2613C>G (p.His871Gln) n.190C>G c.*1711C>G (n.*1711C>G) n.2114C>G c.2562C>G (p.His854Gln) c.1494C>G (p.His498Gln) c.2574C>G (p.His858Gln) c.2472C>G (p.His824Gln) c.1746C>G (p.His582Gln) | |
| 12 | g.21852398G= | CA2021297896 | ABCC9 | c.2613C= (p.His871=) n.190C= c.*1711C= (n.*1711C=) n.2114C= c.2562C= (p.His854=) c.1494C= (p.His498=) c.2574C= (p.His858=) c.2472C= (p.His824=) c.1746C= (p.His582=) | |
| 12 | g.21852398G>T | CA384124752 | ABCC9 | c.2613C>A (p.His871Gln) n.190C>A c.*1711C>A (n.*1711C>A) n.2114C>A c.2562C>A (p.His854Gln) c.1494C>A (p.His498Gln) c.2574C>A (p.His858Gln) c.2472C>A (p.His824Gln) c.1746C>A (p.His582Gln) | |
| 12 | g.21852399T>A | CA384124762 | ABCC9 | c.2612A>T (p.His871Leu) n.189A>T c.*1710A>T (n.*1710A>T) n.2113A>T c.2561A>T (p.His854Leu) c.1493A>T (p.His498Leu) c.2573A>T (p.His858Leu) c.2471A>T (p.His824Leu) c.1745A>T (p.His582Leu) | |
| 12 | g.21852399T>C | CA384124760 | ABCC9 | c.2612A>G (p.His871Arg) n.189A>G c.*1710A>G (n.*1710A>G) n.2113A>G c.2561A>G (p.His854Arg) c.1493A>G (p.His498Arg) c.2573A>G (p.His858Arg) c.2471A>G (p.His824Arg) c.1745A>G (p.His582Arg) | |
| 12 | g.21852399T>G | CA384124761 | ABCC9 | c.2612A>C (p.His871Pro) n.189A>C c.*1710A>C (n.*1710A>C) n.2113A>C c.2561A>C (p.His854Pro) c.1493A>C (p.His498Pro) c.2573A>C (p.His858Pro) c.2471A>C (p.His824Pro) c.1745A>C (p.His582Pro) | |
| 12 | g.21852400G>A | CA384125352 | ABCC9 | c.2611C>T (p.His871Tyr) n.188C>T c.*1709C>T (n.*1709C>T) n.2112C>T c.2560C>T (p.His854Tyr) c.1492C>T (p.His498Tyr) c.2572C>T (p.His858Tyr) c.2470C>T (p.His824Tyr) c.1744C>T (p.His582Tyr) | |
| 12 | g.21852400G>C | CA384125354 | ABCC9 | c.2611C>G (p.His871Asp) n.188C>G c.*1709C>G (n.*1709C>G) n.2112C>G c.2560C>G (p.His854Asp) c.1492C>G (p.His498Asp) c.2572C>G (p.His858Asp) c.2470C>G (p.His824Asp) c.1744C>G (p.His582Asp) | ClinVar dbSNP |
| 12 | g.21852400G>T | CA384125356 | ABCC9 | c.2611C>A (p.His871Asn) n.188C>A c.*1709C>A (n.*1709C>A) n.2112C>A c.2560C>A (p.His854Asn) c.1492C>A (p.His498Asn) c.2572C>A (p.His858Asn) c.2470C>A (p.His824Asn) c.1744C>A (p.His582Asn) | |
| 12 | g.21852401A= | CA2021297903 | ABCC9 | c.2610T= (p.Thr870=) n.187T= c.*1708T= (n.*1708T=) n.2111T= c.2559T= (p.Thr853=) c.1491T= (p.Thr497=) c.2571T= (p.Thr857=) c.2469T= (p.Thr823=) c.1743T= (p.Thr581=) | |
| 12 | g.21852401A>C | CA478872082 | ABCC9 | c.2610T>G (p.Thr870=) n.187T>G c.*1708T>G (n.*1708T>G) n.2111T>G c.2559T>G (p.Thr853=) c.1491T>G (p.Thr497=) c.2571T>G (p.Thr857=) c.2469T>G (p.Thr823=) c.1743T>G (p.Thr581=) | |
| 12 | g.21852401A>G | CA478872083 | ABCC9 | c.2610T>C (p.Thr870=) n.187T>C c.*1708T>C (n.*1708T>C) n.2111T>C c.2559T>C (p.Thr853=) c.1491T>C (p.Thr497=) c.2571T>C (p.Thr857=) c.2469T>C (p.Thr823=) c.1743T>C (p.Thr581=) | |
| 12 | g.21852401A>T | CA478872084 | ABCC9 | c.2610T>A (p.Thr870=) n.187T>A c.*1708T>A (n.*1708T>A) n.2111T>A c.2559T>A (p.Thr853=) c.1491T>A (p.Thr497=) c.2571T>A (p.Thr857=) c.2469T>A (p.Thr823=) c.1743T>A (p.Thr581=) | dbSNP |
| 12 | g.21852402G>A | CA384125363 | ABCC9 | c.2609C>T (p.Thr870Ile) n.186C>T c.*1707C>T (n.*1707C>T) n.2110C>T c.2558C>T (p.Thr853Ile) c.1490C>T (p.Thr497Ile) c.2570C>T (p.Thr857Ile) c.2468C>T (p.Thr823Ile) c.1742C>T (p.Thr581Ile) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21852402G>C | CA384125365 | ABCC9 | c.2609C>G (p.Thr870Ser) n.186C>G c.*1707C>G (n.*1707C>G) n.2110C>G c.2558C>G (p.Thr853Ser) c.1490C>G (p.Thr497Ser) c.2570C>G (p.Thr857Ser) c.2468C>G (p.Thr823Ser) c.1742C>G (p.Thr581Ser) | dbSNP |
| 12 | g.21852402G= | CA2021297907 | ABCC9 | c.2609C= (p.Thr870=) n.186C= c.*1707C= (n.*1707C=) n.2110C= c.2558C= (p.Thr853=) c.1490C= (p.Thr497=) c.2570C= (p.Thr857=) c.2468C= (p.Thr823=) c.1742C= (p.Thr581=) | |
| 12 | g.21852402G>T | CA384125368 | ABCC9 | c.2609C>A (p.Thr870Asn) n.186C>A c.*1707C>A (n.*1707C>A) n.2110C>A c.2558C>A (p.Thr853Asn) c.1490C>A (p.Thr497Asn) c.2570C>A (p.Thr857Asn) c.2468C>A (p.Thr823Asn) c.1742C>A (p.Thr581Asn) | |
| 12 | g.21852403T>A | CA16606240 | ABCC9 | c.2608A>T (p.Thr870Ser) n.185A>T c.*1706A>T (n.*1706A>T) n.2109A>T c.2557A>T (p.Thr853Ser) c.1489A>T (p.Thr497Ser) c.2569A>T (p.Thr857Ser) c.2467A>T (p.Thr823Ser) c.1741A>T (p.Thr581Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21852403T>C | CA384125373 | ABCC9 | c.2608A>G (p.Thr870Ala) n.185A>G c.*1706A>G (n.*1706A>G) n.2109A>G c.2557A>G (p.Thr853Ala) c.1489A>G (p.Thr497Ala) c.2569A>G (p.Thr857Ala) c.2467A>G (p.Thr823Ala) c.1741A>G (p.Thr581Ala) | |
| 12 | g.21852403T>G | CA384125376 | ABCC9 | c.2608A>C (p.Thr870Pro) n.185A>C c.*1706A>C (n.*1706A>C) n.2109A>C c.2557A>C (p.Thr853Pro) c.1489A>C (p.Thr497Pro) c.2569A>C (p.Thr857Pro) c.2467A>C (p.Thr823Pro) c.1741A>C (p.Thr581Pro) | |
| 12 | g.21852403T= | CA2021297913 | ABCC9 | c.2608A= (p.Thr870=) n.185A= c.*1706A= (n.*1706A=) n.2109A= c.2557A= (p.Thr853=) c.1489A= (p.Thr497=) c.2569A= (p.Thr857=) c.2467A= (p.Thr823=) c.1741A= (p.Thr581=) | |
| 12 | g.21852404C>A | CA478872085 | ABCC9 | c.2607G>T (p.Val869=) n.184G>T c.*1705G>T (n.*1705G>T) n.2108G>T c.2556G>T (p.Val852=) c.1488G>T (p.Val496=) c.2568G>T (p.Val856=) c.2466G>T (p.Val822=) c.1740G>T (p.Val580=) | |
| 12 | g.21852404C= | CA2021297918 | ABCC9 | c.2607G= (p.Val869=) n.184G= c.*1705G= (n.*1705G=) n.2108G= c.2556G= (p.Val852=) c.1488G= (p.Val496=) c.2568G= (p.Val856=) c.2466G= (p.Val822=) c.1740G= (p.Val580=) | |
| 12 | g.21852404C>G | CA478872086 | ABCC9 | c.2607G>C (p.Val869=) n.184G>C c.*1705G>C (n.*1705G>C) n.2108G>C c.2556G>C (p.Val852=) c.1488G>C (p.Val496=) c.2568G>C (p.Val856=) c.2466G>C (p.Val822=) c.1740G>C (p.Val580=) | |
| 12 | g.21852404C>T | CA6481331 | ABCC9 | c.2607G>A (p.Val869=) n.184G>A c.*1705G>A (n.*1705G>A) n.2108G>A c.2556G>A (p.Val852=) c.1488G>A (p.Val496=) c.2568G>A (p.Val856=) c.2466G>A (p.Val822=) c.1740G>A (p.Val580=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21852405A>C | CA384125387 | ABCC9 | c.2606T>G (p.Val869Gly) n.183T>G c.*1704T>G (n.*1704T>G) n.2107T>G c.2555T>G (p.Val852Gly) c.1487T>G (p.Val496Gly) c.2567T>G (p.Val856Gly) c.2465T>G (p.Val822Gly) c.1739T>G (p.Val580Gly) | |
| 12 | g.21852405A>G | CA384125382 | ABCC9 | c.2606T>C (p.Val869Ala) n.183T>C c.*1704T>C (n.*1704T>C) n.2107T>C c.2555T>C (p.Val852Ala) c.1487T>C (p.Val496Ala) c.2567T>C (p.Val856Ala) c.2465T>C (p.Val822Ala) c.1739T>C (p.Val580Ala) | |
| 12 | g.21852405A>T | CA384125384 | ABCC9 | c.2606T>A (p.Val869Glu) n.183T>A c.*1704T>A (n.*1704T>A) n.2107T>A c.2555T>A (p.Val852Glu) c.1487T>A (p.Val496Glu) c.2567T>A (p.Val856Glu) c.2465T>A (p.Val822Glu) c.1739T>A (p.Val580Glu) | ClinVar dbSNP |
| 12 | g.21852406C>A | CA384125391 | ABCC9 | c.2605G>T (p.Val869Leu) n.182G>T c.*1703G>T (n.*1703G>T) n.2106G>T c.2554G>T (p.Val852Leu) c.1486G>T (p.Val496Leu) c.2566G>T (p.Val856Leu) c.2464G>T (p.Val822Leu) c.1738G>T (p.Val580Leu) | |
| 12 | g.21852406C>G | CA384125393 | ABCC9 | c.2605G>C (p.Val869Leu) n.182G>C c.*1703G>C (n.*1703G>C) n.2106G>C c.2554G>C (p.Val852Leu) c.1486G>C (p.Val496Leu) c.2566G>C (p.Val856Leu) c.2464G>C (p.Val822Leu) c.1738G>C (p.Val580Leu) | |
| 12 | g.21852406C>T | CA384125396 | ABCC9 | c.2605G>A (p.Val869Met) n.182G>A c.*1703G>A (n.*1703G>A) n.2106G>A c.2554G>A (p.Val852Met) c.1486G>A (p.Val496Met) c.2566G>A (p.Val856Met) c.2464G>A (p.Val822Met) c.1738G>A (p.Val580Met) | |
| 12 | g.21852407A= | CA2021297923 | ABCC9 | c.2604T= (p.Leu868=) n.181T= c.*1702T= (n.*1702T=) n.2105T= c.2553T= (p.Leu851=) c.1485T= (p.Leu495=) c.2565T= (p.Leu855=) c.2463T= (p.Leu821=) c.1737T= (p.Leu579=) | |
| 12 | g.21852407A>C | CA478872089 | ABCC9 | c.2604T>G (p.Leu868=) n.181T>G c.*1702T>G (n.*1702T>G) n.2105T>G c.2553T>G (p.Leu851=) c.1485T>G (p.Leu495=) c.2565T>G (p.Leu855=) c.2463T>G (p.Leu821=) c.1737T>G (p.Leu579=) | |
| 12 | g.21852407A>G | CA478872088 | ABCC9 | c.2604T>C (p.Leu868=) n.181T>C c.*1702T>C (n.*1702T>C) n.2105T>C c.2553T>C (p.Leu851=) c.1485T>C (p.Leu495=) c.2565T>C (p.Leu855=) c.2463T>C (p.Leu821=) c.1737T>C (p.Leu579=) | dbSNP gnomAD v4 |
| 12 | g.21852407A>T | CA478872087 | ABCC9 | c.2604T>A (p.Leu868=) n.181T>A c.*1702T>A (n.*1702T>A) n.2105T>A c.2553T>A (p.Leu851=) c.1485T>A (p.Leu495=) c.2565T>A (p.Leu855=) c.2463T>A (p.Leu821=) c.1737T>A (p.Leu579=) | |
| 12 | g.21852408A>C | CA384125398 | ABCC9 | c.2603T>G (p.Leu868Arg) n.180T>G c.*1701T>G (n.*1701T>G) n.2104T>G c.2552T>G (p.Leu851Arg) c.1484T>G (p.Leu495Arg) c.2564T>G (p.Leu855Arg) c.2462T>G (p.Leu821Arg) c.1736T>G (p.Leu579Arg) | |
| 12 | g.21852408A>G | CA384125401 | ABCC9 | c.2603T>C (p.Leu868Pro) n.180T>C c.*1701T>C (n.*1701T>C) n.2104T>C c.2552T>C (p.Leu851Pro) c.1484T>C (p.Leu495Pro) c.2564T>C (p.Leu855Pro) c.2462T>C (p.Leu821Pro) c.1736T>C (p.Leu579Pro) | |
| 12 | g.21852408A>T | CA384125404 | ABCC9 | c.2603T>A (p.Leu868His) n.180T>A c.*1701T>A (n.*1701T>A) n.2104T>A c.2552T>A (p.Leu851His) c.1484T>A (p.Leu495His) c.2564T>A (p.Leu855His) c.2462T>A (p.Leu821His) c.1736T>A (p.Leu579His) | |
| 12 | g.21852409G>A | CA384125407 | ABCC9 | c.2602C>T (p.Leu868Phe) n.179C>T c.*1700C>T (n.*1700C>T) n.2103C>T c.2551C>T (p.Leu851Phe) c.1483C>T (p.Leu495Phe) c.2563C>T (p.Leu855Phe) c.2461C>T (p.Leu821Phe) c.1735C>T (p.Leu579Phe) | |
| 12 | g.21852409G>C | CA384125409 | ABCC9 | c.2602C>G (p.Leu868Val) n.179C>G c.*1700C>G (n.*1700C>G) n.2103C>G c.2551C>G (p.Leu851Val) c.1483C>G (p.Leu495Val) c.2563C>G (p.Leu855Val) c.2461C>G (p.Leu821Val) c.1735C>G (p.Leu579Val) | |
| 12 | g.21852409G>T | CA384125412 | ABCC9 | c.2602C>A (p.Leu868Ile) n.179C>A c.*1700C>A (n.*1700C>A) n.2103C>A c.2551C>A (p.Leu851Ile) c.1483C>A (p.Leu495Ile) c.2563C>A (p.Leu855Ile) c.2461C>A (p.Leu821Ile) c.1735C>A (p.Leu579Ile) | |
| 12 | g.21852410A>C | CA478872090 | ABCC9 | c.2601T>G (p.Val867=) n.178T>G c.*1699T>G (n.*1699T>G) n.2102T>G c.2550T>G (p.Val850=) c.1482T>G (p.Val494=) c.2562T>G (p.Val854=) c.2460T>G (p.Val820=) c.1734T>G (p.Val578=) | |
| 12 | g.21852410A>G | CA478872091 | ABCC9 | c.2601T>C (p.Val867=) n.178T>C c.*1699T>C (n.*1699T>C) n.2102T>C c.2550T>C (p.Val850=) c.1482T>C (p.Val494=) c.2562T>C (p.Val854=) c.2460T>C (p.Val820=) c.1734T>C (p.Val578=) | |
| 12 | g.21852410A>T | CA478872092 | ABCC9 | c.2601T>A (p.Val867=) n.178T>A c.*1699T>A (n.*1699T>A) n.2102T>A c.2550T>A (p.Val850=) c.1482T>A (p.Val494=) c.2562T>A (p.Val854=) c.2460T>A (p.Val820=) c.1734T>A (p.Val578=) | |
| 12 | g.21852411A>C | CA384125416 | ABCC9 | c.2600T>G (p.Val867Gly) n.177T>G c.*1698T>G (n.*1698T>G) n.2101T>G c.2549T>G (p.Val850Gly) c.1481T>G (p.Val494Gly) c.2561T>G (p.Val854Gly) c.2459T>G (p.Val820Gly) c.1733T>G (p.Val578Gly) | |
| 12 | g.21852411A>G | CA384125418 | ABCC9 | c.2600T>C (p.Val867Ala) n.177T>C c.*1698T>C (n.*1698T>C) n.2101T>C c.2549T>C (p.Val850Ala) c.1481T>C (p.Val494Ala) c.2561T>C (p.Val854Ala) c.2459T>C (p.Val820Ala) c.1733T>C (p.Val578Ala) | |
| 12 | g.21852411A>T | CA384125420 | ABCC9 | c.2600T>A (p.Val867Asp) n.177T>A c.*1698T>A (n.*1698T>A) n.2101T>A c.2549T>A (p.Val850Asp) c.1481T>A (p.Val494Asp) c.2561T>A (p.Val854Asp) c.2459T>A (p.Val820Asp) c.1733T>A (p.Val578Asp) | |
| 12 | g.21852412C>A | CA384125423 | ABCC9 | c.2599G>T (p.Val867Phe) n.176G>T c.*1697G>T (n.*1697G>T) n.2100G>T c.2548G>T (p.Val850Phe) c.1480G>T (p.Val494Phe) c.2560G>T (p.Val854Phe) c.2458G>T (p.Val820Phe) c.1732G>T (p.Val578Phe) | |
| 12 | g.21852412C= | CA2021297926 | ABCC9 | c.2599G= (p.Val867=) n.176G= c.*1697G= (n.*1697G=) n.2100G= c.2548G= (p.Val850=) c.1480G= (p.Val494=) c.2560G= (p.Val854=) c.2458G= (p.Val820=) c.1732G= (p.Val578=) | |
| 12 | g.21852412C>G | CA384125426 | ABCC9 | c.2599G>C (p.Val867Leu) n.176G>C c.*1697G>C (n.*1697G>C) n.2100G>C c.2548G>C (p.Val850Leu) c.1480G>C (p.Val494Leu) c.2560G>C (p.Val854Leu) c.2458G>C (p.Val820Leu) c.1732G>C (p.Val578Leu) | |
| 12 | g.21852412C>T | CA6481332 | ABCC9 | c.2599G>A (p.Val867Ile) n.176G>A c.*1697G>A (n.*1697G>A) n.2100G>A c.2548G>A (p.Val850Ile) c.1480G>A (p.Val494Ile) c.2560G>A (p.Val854Ile) c.2458G>A (p.Val820Ile) c.1732G>A (p.Val578Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21852413G>A | CA478872093 | ABCC9 | c.2598C>T (p.Leu866=) n.175C>T c.*1696C>T (n.*1696C>T) n.2099C>T c.2547C>T (p.Leu849=) c.1479C>T (p.Leu493=) c.2559C>T (p.Leu853=) c.2457C>T (p.Leu819=) c.1731C>T (p.Leu577=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21852413G>C | CA478872094 | ABCC9 | c.2598C>G (p.Leu866=) n.175C>G c.*1696C>G (n.*1696C>G) n.2099C>G c.2547C>G (p.Leu849=) c.1479C>G (p.Leu493=) c.2559C>G (p.Leu853=) c.2457C>G (p.Leu819=) c.1731C>G (p.Leu577=) | |
| 12 | g.21852413G= | CA2021297932 | ABCC9 | c.2598C= (p.Leu866=) n.175C= c.*1696C= (n.*1696C=) n.2099C= c.2547C= (p.Leu849=) c.1479C= (p.Leu493=) c.2559C= (p.Leu853=) c.2457C= (p.Leu819=) c.1731C= (p.Leu577=) | |
| 12 | g.21852413G>T | CA478872095 | ABCC9 | c.2598C>A (p.Leu866=) n.175C>A c.*1696C>A (n.*1696C>A) n.2099C>A c.2547C>A (p.Leu849=) c.1479C>A (p.Leu493=) c.2559C>A (p.Leu853=) c.2457C>A (p.Leu819=) c.1731C>A (p.Leu577=) | gnomAD v4 |
| 12 | g.21852414A>C | CA384125429 | ABCC9 | c.2597T>G (p.Leu866Arg) n.174T>G c.*1695T>G (n.*1695T>G) n.2098T>G c.2546T>G (p.Leu849Arg) c.1478T>G (p.Leu493Arg) c.2558T>G (p.Leu853Arg) c.2456T>G (p.Leu819Arg) c.1730T>G (p.Leu577Arg) | |
| 12 | g.21852414A>G | CA384125431 | ABCC9 | c.2597T>C (p.Leu866Pro) n.174T>C c.*1695T>C (n.*1695T>C) n.2098T>C c.2546T>C (p.Leu849Pro) c.1478T>C (p.Leu493Pro) c.2558T>C (p.Leu853Pro) c.2456T>C (p.Leu819Pro) c.1730T>C (p.Leu577Pro) | |
| 12 | g.21852414A>T | CA384125433 | ABCC9 | c.2597T>A (p.Leu866His) n.174T>A c.*1695T>A (n.*1695T>A) n.2098T>A c.2546T>A (p.Leu849His) c.1478T>A (p.Leu493His) c.2558T>A (p.Leu853His) c.2456T>A (p.Leu819His) c.1730T>A (p.Leu577His) | |
| 12 | g.21852415G>A | CA384125436 | ABCC9 | c.2596C>T (p.Leu866Phe) n.173C>T c.*1694C>T (n.*1694C>T) n.2097C>T c.2545C>T (p.Leu849Phe) c.1477C>T (p.Leu493Phe) c.2557C>T (p.Leu853Phe) c.2455C>T (p.Leu819Phe) c.1729C>T (p.Leu577Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.21852415G>C | CA384125437 | ABCC9 | c.2596C>G (p.Leu866Val) n.173C>G c.*1694C>G (n.*1694C>G) n.2097C>G c.2545C>G (p.Leu849Val) c.1477C>G (p.Leu493Val) c.2557C>G (p.Leu853Val) c.2455C>G (p.Leu819Val) c.1729C>G (p.Leu577Val) | |
| 12 | g.21852415G= | CA2021297937 | ABCC9 | c.2596C= (p.Leu866=) n.173C= c.*1694C= (n.*1694C=) n.2097C= c.2545C= (p.Leu849=) c.1477C= (p.Leu493=) c.2557C= (p.Leu853=) c.2455C= (p.Leu819=) c.1729C= (p.Leu577=) | |
| 12 | g.21852415G>T | CA384125439 | ABCC9 | c.2596C>A (p.Leu866Ile) n.173C>A c.*1694C>A (n.*1694C>A) n.2097C>A c.2545C>A (p.Leu849Ile) c.1477C>A (p.Leu493Ile) c.2557C>A (p.Leu853Ile) c.2455C>A (p.Leu819Ile) c.1729C>A (p.Leu577Ile) | dbSNP |
| 12 | g.21852416T>A | CA478872096 | ABCC9 | c.2595A>T (p.Thr865=) n.172A>T c.*1693A>T (n.*1693A>T) n.2096A>T c.2544A>T (p.Thr848=) c.1476A>T (p.Thr492=) c.2556A>T (p.Thr852=) c.2454A>T (p.Thr818=) c.1728A>T (p.Thr576=) | |
| 12 | g.21852416T>C | CA478872097 | ABCC9 | c.2595A>G (p.Thr865=) n.172A>G c.*1693A>G (n.*1693A>G) n.2096A>G c.2544A>G (p.Thr848=) c.1476A>G (p.Thr492=) c.2556A>G (p.Thr852=) c.2454A>G (p.Thr818=) c.1728A>G (p.Thr576=) | |
| 12 | g.21852416T>G | CA478872098 | ABCC9 | c.2595A>C (p.Thr865=) n.172A>C c.*1693A>C (n.*1693A>C) n.2096A>C c.2544A>C (p.Thr848=) c.1476A>C (p.Thr492=) c.2556A>C (p.Thr852=) c.2454A>C (p.Thr818=) c.1728A>C (p.Thr576=) | |
| 12 | g.21852417G>A | CA384125452 | ABCC9 | c.2594C>T (p.Thr865Ile) n.171C>T c.*1692C>T (n.*1692C>T) n.2095C>T c.2543C>T (p.Thr848Ile) c.1475C>T (p.Thr492Ile) c.2555C>T (p.Thr852Ile) c.2453C>T (p.Thr818Ile) c.1727C>T (p.Thr576Ile) | |
| 12 | g.21852417G>C | CA384125444 | ABCC9 | c.2594C>G (p.Thr865Arg) n.171C>G c.*1692C>G (n.*1692C>G) n.2095C>G c.2543C>G (p.Thr848Arg) c.1475C>G (p.Thr492Arg) c.2555C>G (p.Thr852Arg) c.2453C>G (p.Thr818Arg) c.1727C>G (p.Thr576Arg) | |
| 12 | g.21852417G>T | CA384125449 | ABCC9 | c.2594C>A (p.Thr865Lys) n.171C>A c.*1692C>A (n.*1692C>A) n.2095C>A c.2543C>A (p.Thr848Lys) c.1475C>A (p.Thr492Lys) c.2555C>A (p.Thr852Lys) c.2453C>A (p.Thr818Lys) c.1727C>A (p.Thr576Lys) | |
| 12 | g.21852418T>A | CA384125454 | ABCC9 | c.2593A>T (p.Thr865Ser) n.170A>T c.*1691A>T (n.*1691A>T) n.2094A>T c.2542A>T (p.Thr848Ser) c.1474A>T (p.Thr492Ser) c.2554A>T (p.Thr852Ser) c.2452A>T (p.Thr818Ser) c.1726A>T (p.Thr576Ser) | |
| 12 | g.21852418T>C | CA384125455 | ABCC9 | c.2593A>G (p.Thr865Ala) n.170A>G c.*1691A>G (n.*1691A>G) n.2094A>G c.2542A>G (p.Thr848Ala) c.1474A>G (p.Thr492Ala) c.2554A>G (p.Thr852Ala) c.2452A>G (p.Thr818Ala) c.1726A>G (p.Thr576Ala) | |
| 12 | g.21852418T>G | CA384125457 | ABCC9 | c.2593A>C (p.Thr865Pro) n.170A>C c.*1691A>C (n.*1691A>C) n.2094A>C c.2542A>C (p.Thr848Pro) c.1474A>C (p.Thr492Pro) c.2554A>C (p.Thr852Pro) c.2452A>C (p.Thr818Pro) c.1726A>C (p.Thr576Pro) | |
| 12 | g.21852419C>A | CA384125460 | ABCC9 | c.2592G>T (p.Arg864Ser) n.169G>T c.*1690G>T (n.*1690G>T) n.2093G>T c.2541G>T (p.Arg847Ser) c.1473G>T (p.Arg491Ser) c.2553G>T (p.Arg851Ser) c.2451G>T (p.Arg817Ser) c.1725G>T (p.Arg575Ser) | |
| 12 | g.21852419C= | CA2021297943 | ABCC9 | c.2592G= (p.Arg864=) n.169G= c.*1690G= (n.*1690G=) n.2093G= c.2541G= (p.Arg847=) c.1473G= (p.Arg491=) c.2553G= (p.Arg851=) c.2451G= (p.Arg817=) c.1725G= (p.Arg575=) | |
| 12 | g.21852419C>G | CA384125462 | ABCC9 | c.2592G>C (p.Arg864Ser) n.169G>C c.*1690G>C (n.*1690G>C) n.2093G>C c.2541G>C (p.Arg847Ser) c.1473G>C (p.Arg491Ser) c.2553G>C (p.Arg851Ser) c.2451G>C (p.Arg817Ser) c.1725G>C (p.Arg575Ser) | dbSNP |
| 12 | g.21852419C>T | CA478872099 | ABCC9 | c.2592G>A (p.Arg864=) n.169G>A c.*1690G>A (n.*1690G>A) n.2093G>A c.2541G>A (p.Arg847=) c.1473G>A (p.Arg491=) c.2553G>A (p.Arg851=) c.2451G>A (p.Arg817=) c.1725G>A (p.Arg575=) | ClinVar gnomAD v4 |
| 12 | g.21852420C>A | CA384125466 | ABCC9 | c.2591G>T (p.Arg864Met) n.168G>T c.*1689G>T (n.*1689G>T) n.2092G>T c.2540G>T (p.Arg847Met) c.1472G>T (p.Arg491Met) c.2552G>T (p.Arg851Met) c.2450G>T (p.Arg817Met) c.1724G>T (p.Arg575Met) | |
| 12 | g.21852420C= | CA2021297952 | ABCC9 | c.2591G= (p.Arg864=) n.168G= c.*1689G= (n.*1689G=) n.2092G= c.2540G= (p.Arg847=) c.1472G= (p.Arg491=) c.2552G= (p.Arg851=) c.2450G= (p.Arg817=) c.1724G= (p.Arg575=) | |
| 12 | g.21852420C>G | CA384125471 | ABCC9 | c.2591G>C (p.Arg864Thr) n.168G>C c.*1689G>C (n.*1689G>C) n.2092G>C c.2540G>C (p.Arg847Thr) c.1472G>C (p.Arg491Thr) c.2552G>C (p.Arg851Thr) c.2450G>C (p.Arg817Thr) c.1724G>C (p.Arg575Thr) | |
| 12 | g.21852420C>T | CA384125468 | ABCC9 | c.2591G>A (p.Arg864Lys) n.168G>A c.*1689G>A (n.*1689G>A) n.2092G>A c.2540G>A (p.Arg847Lys) c.1472G>A (p.Arg491Lys) c.2552G>A (p.Arg851Lys) c.2450G>A (p.Arg817Lys) c.1724G>A (p.Arg575Lys) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.21852421T>A | CA384125474 | ABCC9 | c.2590A>T (p.Arg864Trp) n.167A>T c.*1688A>T (n.*1688A>T) n.2091A>T c.2539A>T (p.Arg847Trp) c.1471A>T (p.Arg491Trp) c.2551A>T (p.Arg851Trp) c.2449A>T (p.Arg817Trp) c.1723A>T (p.Arg575Trp) | |
| 12 | g.21852421T>C | CA384125476 | ABCC9 | c.2590A>G (p.Arg864Gly) n.167A>G c.*1688A>G (n.*1688A>G) n.2091A>G c.2539A>G (p.Arg847Gly) c.1471A>G (p.Arg491Gly) c.2551A>G (p.Arg851Gly) c.2449A>G (p.Arg817Gly) c.1723A>G (p.Arg575Gly) | |
| 12 | g.21852421T>G | CA478872100 | ABCC9 | c.2590A>C (p.Arg864=) n.167A>C c.*1688A>C (n.*1688A>C) n.2091A>C c.2539A>C (p.Arg847=) c.1471A>C (p.Arg491=) c.2551A>C (p.Arg851=) c.2449A>C (p.Arg817=) c.1723A>C (p.Arg575=) | |
| 12 | g.21852423_21852424del | CA2580085303 | ABCC9 | c.2589_2590del (p.Arg864AspfsTer16) n.166_167del c.*1687_*1688del (n.*1687_*1688del) n.2090_2091del c.2538_2539del (p.Arg847AspfsTer16) c.1470_1471del (p.Arg491AspfsTer16) c.2550_2551del (p.Arg851AspfsTer16) c.2448_2449del (p.Arg817AspfsTer16) c.1722_1723del (p.Arg575AspfsTer16) | ClinVar |
| 12 | g.21852422T>A | CA384125479 | ABCC9 | c.2589A>T (p.Lys863Asn) n.166A>T c.*1687A>T (n.*1687A>T) n.2090A>T c.2538A>T (p.Lys846Asn) c.1470A>T (p.Lys490Asn) c.2550A>T (p.Lys850Asn) c.2448A>T (p.Lys816Asn) c.1722A>T (p.Lys574Asn) | |
| 12 | g.21852422T>C | CA478872101 | ABCC9 | c.2589A>G (p.Lys863=) n.166A>G c.*1687A>G (n.*1687A>G) n.2090A>G c.2538A>G (p.Lys846=) c.1470A>G (p.Lys490=) c.2550A>G (p.Lys850=) c.2448A>G (p.Lys816=) c.1722A>G (p.Lys574=) | |
| 12 | g.21852422T>G | CA384125480 | ABCC9 | c.2589A>C (p.Lys863Asn) n.166A>C c.*1687A>C (n.*1687A>C) n.2090A>C c.2538A>C (p.Lys846Asn) c.1470A>C (p.Lys490Asn) c.2550A>C (p.Lys850Asn) c.2448A>C (p.Lys816Asn) c.1722A>C (p.Lys574Asn) | |
| 12 | g.21852423T>A | CA384125484 | ABCC9 | c.2588A>T (p.Lys863Ile) n.165A>T c.*1686A>T (n.*1686A>T) n.2089A>T c.2537A>T (p.Lys846Ile) c.1469A>T (p.Lys490Ile) c.2549A>T (p.Lys850Ile) c.2447A>T (p.Lys816Ile) c.1721A>T (p.Lys574Ile) | |
| 12 | g.21852423T>C | CA233599830 | ABCC9 | c.2588A>G (p.Lys863Arg) n.165A>G c.*1686A>G (n.*1686A>G) n.2089A>G c.2537A>G (p.Lys846Arg) c.1469A>G (p.Lys490Arg) c.2549A>G (p.Lys850Arg) c.2447A>G (p.Lys816Arg) c.1721A>G (p.Lys574Arg) | dbSNP gnomAD v4 |
| 12 | g.21852423T>G | CA384125488 | ABCC9 | c.2588A>C (p.Lys863Thr) n.165A>C c.*1686A>C (n.*1686A>C) n.2089A>C c.2537A>C (p.Lys846Thr) c.1469A>C (p.Lys490Thr) c.2549A>C (p.Lys850Thr) c.2447A>C (p.Lys816Thr) c.1721A>C (p.Lys574Thr) | |
| 12 | g.21852423T= | CA2021297955 | ABCC9 | c.2588A= (p.Lys863=) n.165A= c.*1686A= (n.*1686A=) n.2089A= c.2537A= (p.Lys846=) c.1469A= (p.Lys490=) c.2549A= (p.Lys850=) c.2447A= (p.Lys816=) c.1721A= (p.Lys574=) | |
| 12 | g.21852424T>A | CA384125492 | ABCC9 | c.2587A>T (p.Lys863Ter) n.164A>T c.*1685A>T (n.*1685A>T) n.2088A>T c.2536A>T (p.Lys846Ter) c.1468A>T (p.Lys490Ter) c.2548A>T (p.Lys850Ter) c.2446A>T (p.Lys816Ter) c.1720A>T (p.Lys574Ter) | gnomAD v4 |
| 12 | g.21852424T>C | CA384125495 | ABCC9 | c.2587A>G (p.Lys863Glu) n.164A>G c.*1685A>G (n.*1685A>G) n.2088A>G c.2536A>G (p.Lys846Glu) c.1468A>G (p.Lys490Glu) c.2548A>G (p.Lys850Glu) c.2446A>G (p.Lys816Glu) c.1720A>G (p.Lys574Glu) | |
| 12 | g.21852424T>G | CA384125500 | ABCC9 | c.2587A>C (p.Lys863Gln) n.164A>C c.*1685A>C (n.*1685A>C) n.2088A>C c.2536A>C (p.Lys846Gln) c.1468A>C (p.Lys490Gln) c.2548A>C (p.Lys850Gln) c.2446A>C (p.Lys816Gln) c.1720A>C (p.Lys574Gln) | |
| 12 | g.21852425G>A | CA478872103 | ABCC9 | c.2586C>T (p.Asp862=) n.163C>T c.*1684C>T (n.*1684C>T) n.2087C>T c.2535C>T (p.Asp845=) c.1467C>T (p.Asp489=) c.2547C>T (p.Asp849=) c.2445C>T (p.Asp815=) c.1719C>T (p.Asp573=) | gnomAD v4 |
| 12 | g.21852425G>C | CA6481333 | ABCC9 | c.2586C>G (p.Asp862Glu) n.163C>G c.*1684C>G (n.*1684C>G) n.2087C>G c.2535C>G (p.Asp845Glu) c.1467C>G (p.Asp489Glu) c.2547C>G (p.Asp849Glu) c.2445C>G (p.Asp815Glu) c.1719C>G (p.Asp573Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21852425G= | CA2021297959 | ABCC9 | c.2586C= (p.Asp862=) n.163C= c.*1684C= (n.*1684C=) n.2087C= c.2535C= (p.Asp845=) c.1467C= (p.Asp489=) c.2547C= (p.Asp849=) c.2445C= (p.Asp815=) c.1719C= (p.Asp573=) | |
| 12 | g.21852425G>T | CA384125503 | ABCC9 | c.2586C>A (p.Asp862Glu) n.163C>A c.*1684C>A (n.*1684C>A) n.2087C>A c.2535C>A (p.Asp845Glu) c.1467C>A (p.Asp489Glu) c.2547C>A (p.Asp849Glu) c.2445C>A (p.Asp815Glu) c.1719C>A (p.Asp573Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21852426T>A | CA384125509 | ABCC9 | c.2585A>T (p.Asp862Val) n.162A>T c.*1683A>T (n.*1683A>T) n.2086A>T c.2534A>T (p.Asp845Val) c.1466A>T (p.Asp489Val) c.2546A>T (p.Asp849Val) c.2444A>T (p.Asp815Val) c.1718A>T (p.Asp573Val) | |
| 12 | g.21852426T>C | CA384125507 | ABCC9 | c.2585A>G (p.Asp862Gly) n.162A>G c.*1683A>G (n.*1683A>G) n.2086A>G c.2534A>G (p.Asp845Gly) c.1466A>G (p.Asp489Gly) c.2546A>G (p.Asp849Gly) c.2444A>G (p.Asp815Gly) c.1718A>G (p.Asp573Gly) | |
| 12 | g.21852426T>G | CA384125506 | ABCC9 | c.2585A>C (p.Asp862Ala) n.162A>C c.*1683A>C (n.*1683A>C) n.2086A>C c.2534A>C (p.Asp845Ala) c.1466A>C (p.Asp489Ala) c.2546A>C (p.Asp849Ala) c.2444A>C (p.Asp815Ala) c.1718A>C (p.Asp573Ala) | |
| 12 | g.21852427C>A | CA384125512 | ABCC9 | c.2584G>T (p.Asp862Tyr) n.161G>T c.*1682G>T (n.*1682G>T) n.2085G>T c.2533G>T (p.Asp845Tyr) c.1465G>T (p.Asp489Tyr) c.2545G>T (p.Asp849Tyr) c.2443G>T (p.Asp815Tyr) c.1717G>T (p.Asp573Tyr) | |
| 12 | g.21852427C>G | CA384125516 | ABCC9 | c.2584G>C (p.Asp862His) n.161G>C c.*1682G>C (n.*1682G>C) n.2085G>C c.2533G>C (p.Asp845His) c.1465G>C (p.Asp489His) c.2545G>C (p.Asp849His) c.2443G>C (p.Asp815His) c.1717G>C (p.Asp573His) | |
| 12 | g.21852427C>T | CA384125514 | ABCC9 | c.2584G>A (p.Asp862Asn) n.161G>A c.*1682G>A (n.*1682G>A) n.2085G>A c.2533G>A (p.Asp845Asn) c.1465G>A (p.Asp489Asn) c.2545G>A (p.Asp849Asn) c.2443G>A (p.Asp815Asn) c.1717G>A (p.Asp573Asn) | |
| 12 | g.21852428A= | CA2021297966 | ABCC9 | c.2583T= (p.Asp861=) n.160T= c.*1681T= (n.*1681T=) n.2084T= c.2532T= (p.Asp844=) c.1464T= (p.Asp488=) c.2544T= (p.Asp848=) c.2442T= (p.Asp814=) c.1716T= (p.Asp572=) | |
| 12 | g.21852428A>C | CA384125518 | ABCC9 | c.2583T>G (p.Asp861Glu) n.160T>G c.*1681T>G (n.*1681T>G) n.2084T>G c.2532T>G (p.Asp844Glu) c.1464T>G (p.Asp488Glu) c.2544T>G (p.Asp848Glu) c.2442T>G (p.Asp814Glu) c.1716T>G (p.Asp572Glu) | |
| 12 | g.21852428A>G | CA478872104 | ABCC9 | c.2583T>C (p.Asp861=) n.160T>C c.*1681T>C (n.*1681T>C) n.2084T>C c.2532T>C (p.Asp844=) c.1464T>C (p.Asp488=) c.2544T>C (p.Asp848=) c.2442T>C (p.Asp814=) c.1716T>C (p.Asp572=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21852428A>T | CA384125520 | ABCC9 | c.2583T>A (p.Asp861Glu) n.160T>A c.*1681T>A (n.*1681T>A) n.2084T>A c.2532T>A (p.Asp844Glu) c.1464T>A (p.Asp488Glu) c.2544T>A (p.Asp848Glu) c.2442T>A (p.Asp814Glu) c.1716T>A (p.Asp572Glu) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21852429T>A | CA384125522 | ABCC9 | c.2582A>T (p.Asp861Val) n.159A>T c.*1680A>T (n.*1680A>T) n.2083A>T c.2531A>T (p.Asp844Val) c.1463A>T (p.Asp488Val) c.2543A>T (p.Asp848Val) c.2441A>T (p.Asp814Val) c.1715A>T (p.Asp572Val) | |
| 12 | g.21852429T>C | CA384125523 | ABCC9 | c.2582A>G (p.Asp861Gly) n.159A>G c.*1680A>G (n.*1680A>G) n.2083A>G c.2531A>G (p.Asp844Gly) c.1463A>G (p.Asp488Gly) c.2543A>G (p.Asp848Gly) c.2441A>G (p.Asp814Gly) c.1715A>G (p.Asp572Gly) | gnomAD v4 |
| 12 | g.21852429T>G | CA233599855 | ABCC9 | c.2582A>C (p.Asp861Ala) n.159A>C c.*1680A>C (n.*1680A>C) n.2083A>C c.2531A>C (p.Asp844Ala) c.1463A>C (p.Asp488Ala) c.2543A>C (p.Asp848Ala) c.2441A>C (p.Asp814Ala) c.1715A>C (p.Asp572Ala) | dbSNP gnomAD v4 |
| 12 | g.21852429T= | CA2021297970 | ABCC9 | c.2582A= (p.Asp861=) n.159A= c.*1680A= (n.*1680A=) n.2083A= c.2531A= (p.Asp844=) c.1463A= (p.Asp488=) c.2543A= (p.Asp848=) c.2441A= (p.Asp814=) c.1715A= (p.Asp572=) | |
| 12 | g.21852430C>A | CA384125527 | ABCC9 | c.2581G>T (p.Asp861Tyr) n.158G>T c.*1679G>T (n.*1679G>T) n.2082G>T c.2530G>T (p.Asp844Tyr) c.1462G>T (p.Asp488Tyr) c.2542G>T (p.Asp848Tyr) c.2440G>T (p.Asp814Tyr) c.1714G>T (p.Asp572Tyr) | COSMIC COSMIC |
| 12 | g.21852430C>G | CA384125528 | ABCC9 | c.2581G>C (p.Asp861His) n.158G>C c.*1679G>C (n.*1679G>C) n.2082G>C c.2530G>C (p.Asp844His) c.1462G>C (p.Asp488His) c.2542G>C (p.Asp848His) c.2440G>C (p.Asp814His) c.1714G>C (p.Asp572His) | |
| 12 | g.21852430C>T | CA384125530 | ABCC9 | c.2581G>A (p.Asp861Asn) n.158G>A c.*1679G>A (n.*1679G>A) n.2082G>A c.2530G>A (p.Asp844Asn) c.1462G>A (p.Asp488Asn) c.2542G>A (p.Asp848Asn) c.2440G>A (p.Asp814Asn) c.1714G>A (p.Asp572Asn) | |
| 12 | g.21852431T>A | CA384125532 | ABCC9 | c.2580A>T (p.Gln860His) n.157A>T c.*1678A>T (n.*1678A>T) n.2081A>T c.2529A>T (p.Gln843His) c.1461A>T (p.Gln487His) c.2541A>T (p.Gln847His) c.2439A>T (p.Gln813His) c.1713A>T (p.Gln571His) | |
| 12 | g.21852431T>C | CA6481334 | ABCC9 | c.2580A>G (p.Gln860=) n.157A>G c.*1678A>G (n.*1678A>G) n.2081A>G c.2529A>G (p.Gln843=) c.1461A>G (p.Gln487=) c.2541A>G (p.Gln847=) c.2439A>G (p.Gln813=) c.1713A>G (p.Gln571=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21852431T>G | CA384125534 | ABCC9 | c.2580A>C (p.Gln860His) n.157A>C c.*1678A>C (n.*1678A>C) n.2081A>C c.2529A>C (p.Gln843His) c.1461A>C (p.Gln487His) c.2541A>C (p.Gln847His) c.2439A>C (p.Gln813His) c.1713A>C (p.Gln571His) | |
| 12 | g.21852431T= | CA2021297971 | ABCC9 | c.2580A= (p.Gln860=) n.157A= c.*1678A= (n.*1678A=) n.2081A= c.2529A= (p.Gln843=) c.1461A= (p.Gln487=) c.2541A= (p.Gln847=) c.2439A= (p.Gln813=) c.1713A= (p.Gln571=) | |
| 12 | g.21852432T>A | CA384125537 | ABCC9 | c.2579A>T (p.Gln860Leu) n.156A>T c.*1677A>T (n.*1677A>T) n.2080A>T c.2528A>T (p.Gln843Leu) c.1460A>T (p.Gln487Leu) c.2540A>T (p.Gln847Leu) c.2438A>T (p.Gln813Leu) c.1712A>T (p.Gln571Leu) | |
| 12 | g.21852432T>C | CA384125539 | ABCC9 | c.2579A>G (p.Gln860Arg) n.156A>G c.*1677A>G (n.*1677A>G) n.2080A>G c.2528A>G (p.Gln843Arg) c.1460A>G (p.Gln487Arg) c.2540A>G (p.Gln847Arg) c.2438A>G (p.Gln813Arg) c.1712A>G (p.Gln571Arg) | |
| 12 | g.21852432T>G | CA384125541 | ABCC9 | c.2579A>C (p.Gln860Pro) n.156A>C c.*1677A>C (n.*1677A>C) n.2080A>C c.2528A>C (p.Gln843Pro) c.1460A>C (p.Gln487Pro) c.2540A>C (p.Gln847Pro) c.2438A>C (p.Gln813Pro) c.1712A>C (p.Gln571Pro) | |
| 12 | g.21852433G>A | CA384125543 | ABCC9 | c.2578C>T (p.Gln860Ter) n.155C>T c.*1676C>T (n.*1676C>T) n.2079C>T c.2527C>T (p.Gln843Ter) c.1459C>T (p.Gln487Ter) c.2539C>T (p.Gln847Ter) c.2437C>T (p.Gln813Ter) c.1711C>T (p.Gln571Ter) | |
| 12 | g.21852433G>C | CA384125546 | ABCC9 | c.2578C>G (p.Gln860Glu) n.155C>G c.*1676C>G (n.*1676C>G) n.2079C>G c.2527C>G (p.Gln843Glu) c.1459C>G (p.Gln487Glu) c.2539C>G (p.Gln847Glu) c.2437C>G (p.Gln813Glu) c.1711C>G (p.Gln571Glu) | |
| 12 | g.21852433G>T | CA384125545 | ABCC9 | c.2578C>A (p.Gln860Lys) n.155C>A c.*1676C>A (n.*1676C>A) n.2079C>A c.2527C>A (p.Gln843Lys) c.1459C>A (p.Gln487Lys) c.2539C>A (p.Gln847Lys) c.2437C>A (p.Gln813Lys) c.1711C>A (p.Gln571Lys) | |
| 12 | g.21852434C>A | CA478872111 | ABCC9 | c.2577G>T (p.Leu859=) n.154G>T c.*1675G>T (n.*1675G>T) n.2078G>T c.2526G>T (p.Leu842=) c.1458G>T (p.Leu486=) c.2538G>T (p.Leu846=) c.2436G>T (p.Leu812=) c.1710G>T (p.Leu570=) | COSMIC COSMIC |
| 12 | g.21852434C>G | CA478872112 | ABCC9 | c.2577G>C (p.Leu859=) n.154G>C c.*1675G>C (n.*1675G>C) n.2078G>C c.2526G>C (p.Leu842=) c.1458G>C (p.Leu486=) c.2538G>C (p.Leu846=) c.2436G>C (p.Leu812=) c.1710G>C (p.Leu570=) | |
| 12 | g.21852434C>T | CA478872114 | ABCC9 | c.2577G>A (p.Leu859=) n.154G>A c.*1675G>A (n.*1675G>A) n.2078G>A c.2526G>A (p.Leu842=) c.1458G>A (p.Leu486=) c.2538G>A (p.Leu846=) c.2436G>A (p.Leu812=) c.1710G>A (p.Leu570=) | |
| 12 | g.21852435A>C | CA384125548 | ABCC9 | c.2576T>G (p.Leu859Arg) n.153T>G c.*1674T>G (n.*1674T>G) n.2077T>G c.2525T>G (p.Leu842Arg) c.1457T>G (p.Leu486Arg) c.2537T>G (p.Leu846Arg) c.2435T>G (p.Leu812Arg) c.1709T>G (p.Leu570Arg) | |
| 12 | g.21852435A>G | CA384125550 | ABCC9 | c.2576T>C (p.Leu859Pro) n.153T>C c.*1674T>C (n.*1674T>C) n.2077T>C c.2525T>C (p.Leu842Pro) c.1457T>C (p.Leu486Pro) c.2537T>C (p.Leu846Pro) c.2435T>C (p.Leu812Pro) c.1709T>C (p.Leu570Pro) | |
| 12 | g.21852435A>T | CA384125552 | ABCC9 | c.2576T>A (p.Leu859Gln) n.153T>A c.*1674T>A (n.*1674T>A) n.2077T>A c.2525T>A (p.Leu842Gln) c.1457T>A (p.Leu486Gln) c.2537T>A (p.Leu846Gln) c.2435T>A (p.Leu812Gln) c.1709T>A (p.Leu570Gln) | |
| 12 | g.21852436G>A | CA478872118 | ABCC9 | c.2575C>T (p.Leu859=) n.152C>T c.*1673C>T (n.*1673C>T) n.2076C>T c.2524C>T (p.Leu842=) c.1456C>T (p.Leu486=) c.2536C>T (p.Leu846=) c.2434C>T (p.Leu812=) c.1708C>T (p.Leu570=) | |
| 12 | g.21852436G>C | CA384125554 | ABCC9 | c.2575C>G (p.Leu859Val) n.152C>G c.*1673C>G (n.*1673C>G) n.2076C>G c.2524C>G (p.Leu842Val) c.1456C>G (p.Leu486Val) c.2536C>G (p.Leu846Val) c.2434C>G (p.Leu812Val) c.1708C>G (p.Leu570Val) | |
| 12 | g.21852436G>T | CA384125556 | ABCC9 | c.2575C>A (p.Leu859Met) n.152C>A c.*1673C>A (n.*1673C>A) n.2076C>A c.2524C>A (p.Leu842Met) c.1456C>A (p.Leu486Met) c.2536C>A (p.Leu846Met) c.2434C>A (p.Leu812Met) c.1708C>A (p.Leu570Met) | |
| 12 | g.21852437G>A | CA478872121 | ABCC9 | c.2574C>T (p.Phe858=) n.151C>T c.*1672C>T (n.*1672C>T) n.2075C>T c.2523C>T (p.Phe841=) c.1455C>T (p.Phe485=) c.2535C>T (p.Phe845=) c.2433C>T (p.Phe811=) c.1707C>T (p.Phe569=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.21852437G>C | CA384125558 | ABCC9 | c.2574C>G (p.Phe858Leu) n.151C>G c.*1672C>G (n.*1672C>G) n.2075C>G c.2523C>G (p.Phe841Leu) c.1455C>G (p.Phe485Leu) c.2535C>G (p.Phe845Leu) c.2433C>G (p.Phe811Leu) c.1707C>G (p.Phe569Leu) | COSMIC COSMIC |
| 12 | g.21852437G= | CA2021297978 | ABCC9 | c.2574C= (p.Phe858=) n.151C= c.*1672C= (n.*1672C=) n.2075C= c.2523C= (p.Phe841=) c.1455C= (p.Phe485=) c.2535C= (p.Phe845=) c.2433C= (p.Phe811=) c.1707C= (p.Phe569=) | |
| 12 | g.21852437G>T | CA384125560 | ABCC9 | c.2574C>A (p.Phe858Leu) n.151C>A c.*1672C>A (n.*1672C>A) n.2075C>A c.2523C>A (p.Phe841Leu) c.1455C>A (p.Phe485Leu) c.2535C>A (p.Phe845Leu) c.2433C>A (p.Phe811Leu) c.1707C>A (p.Phe569Leu) | dbSNP COSMIC COSMIC |
| 12 | g.21852438A= | CA2021297980 | ABCC9 | c.2573T= (p.Phe858=) n.150T= c.*1671T= (n.*1671T=) n.2074T= c.2522T= (p.Phe841=) c.1454T= (p.Phe485=) c.2534T= (p.Phe845=) c.2432T= (p.Phe811=) c.1706T= (p.Phe569=) | |
| 12 | g.21852438A>C | CA233599862 | ABCC9 | c.2573T>G (p.Phe858Cys) n.150T>G c.*1671T>G (n.*1671T>G) n.2074T>G c.2522T>G (p.Phe841Cys) c.1454T>G (p.Phe485Cys) c.2534T>G (p.Phe845Cys) c.2432T>G (p.Phe811Cys) c.1706T>G (p.Phe569Cys) | dbSNP gnomAD v4 |
| 12 | g.21852438A>G | CA384125563 | ABCC9 | c.2573T>C (p.Phe858Ser) n.150T>C c.*1671T>C (n.*1671T>C) n.2074T>C c.2522T>C (p.Phe841Ser) c.1454T>C (p.Phe485Ser) c.2534T>C (p.Phe845Ser) c.2432T>C (p.Phe811Ser) c.1706T>C (p.Phe569Ser) | |
| 12 | g.21852438A>T | CA384125564 | ABCC9 | c.2573T>A (p.Phe858Tyr) n.150T>A c.*1671T>A (n.*1671T>A) n.2074T>A c.2522T>A (p.Phe841Tyr) c.1454T>A (p.Phe485Tyr) c.2534T>A (p.Phe845Tyr) c.2432T>A (p.Phe811Tyr) c.1706T>A (p.Phe569Tyr) | |
| 12 | g.21852439A= | CA2021297987 | ABCC9 | c.2572T= (p.Phe858=) n.149T= c.*1670T= (n.*1670T=) n.2073T= c.2521T= (p.Phe841=) c.1453T= (p.Phe485=) c.2533T= (p.Phe845=) c.2431T= (p.Phe811=) c.1705T= (p.Phe569=) | |
| 12 | g.21852439A>C | CA384125568 | ABCC9 | c.2572T>G (p.Phe858Val) n.149T>G c.*1670T>G (n.*1670T>G) n.2073T>G c.2521T>G (p.Phe841Val) c.1453T>G (p.Phe485Val) c.2533T>G (p.Phe845Val) c.2431T>G (p.Phe811Val) c.1705T>G (p.Phe569Val) | |
| 12 | g.21852439A>G | CA384125570 | ABCC9 | c.2572T>C (p.Phe858Leu) n.149T>C c.*1670T>C (n.*1670T>C) n.2073T>C c.2521T>C (p.Phe841Leu) c.1453T>C (p.Phe485Leu) c.2533T>C (p.Phe845Leu) c.2431T>C (p.Phe811Leu) c.1705T>C (p.Phe569Leu) | ClinVar dbSNP |
| 12 | g.21852439A>T | CA384125567 | ABCC9 | c.2572T>A (p.Phe858Ile) n.149T>A c.*1670T>A (n.*1670T>A) n.2073T>A c.2521T>A (p.Phe841Ile) c.1453T>A (p.Phe485Ile) c.2533T>A (p.Phe845Ile) c.2431T>A (p.Phe811Ile) c.1705T>A (p.Phe569Ile) | |
| 12 | g.21852440T>A | CA384125572 | ABCC9 | c.2571A>T (p.Lys857Asn) n.148A>T c.*1669A>T (n.*1669A>T) n.2072A>T c.2520A>T (p.Lys840Asn) c.1452A>T (p.Lys484Asn) c.2532A>T (p.Lys844Asn) c.2430A>T (p.Lys810Asn) c.1704A>T (p.Lys568Asn) | |
| 12 | g.21852440T>C | CA6481335 | ABCC9 | c.2571A>G (p.Lys857=) n.148A>G c.*1669A>G (n.*1669A>G) n.2072A>G c.2520A>G (p.Lys840=) c.1452A>G (p.Lys484=) c.2532A>G (p.Lys844=) c.2430A>G (p.Lys810=) c.1704A>G (p.Lys568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21852440T>G | CA384125575 | ABCC9 | c.2571A>C (p.Lys857Asn) n.148A>C c.*1669A>C (n.*1669A>C) n.2072A>C c.2520A>C (p.Lys840Asn) c.1452A>C (p.Lys484Asn) c.2532A>C (p.Lys844Asn) c.2430A>C (p.Lys810Asn) c.1704A>C (p.Lys568Asn) | |
| 12 | g.21852440T= | CA2021297992 | ABCC9 | c.2571A= (p.Lys857=) n.148A= c.*1669A= (n.*1669A=) n.2072A= c.2520A= (p.Lys840=) c.1452A= (p.Lys484=) c.2532A= (p.Lys844=) c.2430A= (p.Lys810=) c.1704A= (p.Lys568=) | |
| 12 | g.21852441T>A | CA384125577 | ABCC9 | c.2570A>T (p.Lys857Ile) n.147A>T c.*1668A>T (n.*1668A>T) n.2071A>T c.2519A>T (p.Lys840Ile) c.1451A>T (p.Lys484Ile) c.2531A>T (p.Lys844Ile) c.2429A>T (p.Lys810Ile) c.1703A>T (p.Lys568Ile) | |
| 12 | g.21852441T>C | CA384125579 | ABCC9 | c.2570A>G (p.Lys857Arg) n.147A>G c.*1668A>G (n.*1668A>G) n.2071A>G c.2519A>G (p.Lys840Arg) c.1451A>G (p.Lys484Arg) c.2531A>G (p.Lys844Arg) c.2429A>G (p.Lys810Arg) c.1703A>G (p.Lys568Arg) | |
| 12 | g.21852441T>G | CA384125580 | ABCC9 | c.2570A>C (p.Lys857Thr) n.147A>C c.*1668A>C (n.*1668A>C) n.2071A>C c.2519A>C (p.Lys840Thr) c.1451A>C (p.Lys484Thr) c.2531A>C (p.Lys844Thr) c.2429A>C (p.Lys810Thr) c.1703A>C (p.Lys568Thr) | |
| 12 | g.21852442T>A | CA384125582 | ABCC9 | c.2569A>T (p.Lys857Ter) n.146A>T c.*1667A>T (n.*1667A>T) n.2070A>T c.2518A>T (p.Lys840Ter) c.1450A>T (p.Lys484Ter) c.2530A>T (p.Lys844Ter) c.2428A>T (p.Lys810Ter) c.1702A>T (p.Lys568Ter) | |
| 12 | g.21852442T>C | CA384125584 | ABCC9 | c.2569A>G (p.Lys857Glu) n.146A>G c.*1667A>G (n.*1667A>G) n.2070A>G c.2518A>G (p.Lys840Glu) c.1450A>G (p.Lys484Glu) c.2530A>G (p.Lys844Glu) c.2428A>G (p.Lys810Glu) c.1702A>G (p.Lys568Glu) | |
| 12 | g.21852442T>G | CA384125586 | ABCC9 | c.2569A>C (p.Lys857Gln) n.146A>C c.*1667A>C (n.*1667A>C) n.2070A>C c.2518A>C (p.Lys840Gln) c.1450A>C (p.Lys484Gln) c.2530A>C (p.Lys844Gln) c.2428A>C (p.Lys810Gln) c.1702A>C (p.Lys568Gln) | gnomAD v4 |
| 12 | g.21852443C>A | CA384125588 | ABCC9 | c.2568G>T (p.Leu856Phe) n.145G>T c.*1666G>T (n.*1666G>T) n.2069G>T c.2517G>T (p.Leu839Phe) c.1449G>T (p.Leu483Phe) c.2529G>T (p.Leu843Phe) c.2427G>T (p.Leu809Phe) c.1701G>T (p.Leu567Phe) | gnomAD v4 |
| 12 | g.21852443C>G | CA384125590 | ABCC9 | c.2568G>C (p.Leu856Phe) n.145G>C c.*1666G>C (n.*1666G>C) n.2069G>C c.2517G>C (p.Leu839Phe) c.1449G>C (p.Leu483Phe) c.2529G>C (p.Leu843Phe) c.2427G>C (p.Leu809Phe) c.1701G>C (p.Leu567Phe) | gnomAD v4 |
| 12 | g.21852443C>T | CA478872138 | ABCC9 | c.2568G>A (p.Leu856=) n.145G>A c.*1666G>A (n.*1666G>A) n.2069G>A c.2517G>A (p.Leu839=) c.1449G>A (p.Leu483=) c.2529G>A (p.Leu843=) c.2427G>A (p.Leu809=) c.1701G>A (p.Leu567=) | ClinVar gnomAD v4 |
| 12 | g.21852444A>C | CA384125592 | ABCC9 | c.2567T>G (p.Leu856Trp) n.144T>G c.*1665T>G (n.*1665T>G) n.2068T>G c.2516T>G (p.Leu839Trp) c.1448T>G (p.Leu483Trp) c.2528T>G (p.Leu843Trp) c.2426T>G (p.Leu809Trp) c.1700T>G (p.Leu567Trp) | |
| 12 | g.21852444A>G | CA384125594 | ABCC9 | c.2567T>C (p.Leu856Ser) n.144T>C c.*1665T>C (n.*1665T>C) n.2068T>C c.2516T>C (p.Leu839Ser) c.1448T>C (p.Leu483Ser) c.2528T>C (p.Leu843Ser) c.2426T>C (p.Leu809Ser) c.1700T>C (p.Leu567Ser) | |
| 12 | g.21852444A>T | CA384125596 | ABCC9 | c.2567T>A (p.Leu856Ter) n.144T>A c.*1665T>A (n.*1665T>A) n.2068T>A c.2516T>A (p.Leu839Ter) c.1448T>A (p.Leu483Ter) c.2528T>A (p.Leu843Ter) c.2426T>A (p.Leu809Ter) c.1700T>A (p.Leu567Ter) | |
| 12 | g.21852445A= | CA2021297998 | ABCC9 | c.2566T= (p.Leu856=) n.143T= c.*1664T= (n.*1664T=) n.2067T= c.2515T= (p.Leu839=) c.1447T= (p.Leu483=) c.2527T= (p.Leu843=) c.2425T= (p.Leu809=) c.1699T= (p.Leu567=) | |
| 12 | g.21852445A>C | CA384125598 | ABCC9 | c.2566T>G (p.Leu856Val) n.143T>G c.*1664T>G (n.*1664T>G) n.2067T>G c.2515T>G (p.Leu839Val) c.1447T>G (p.Leu483Val) c.2527T>G (p.Leu843Val) c.2425T>G (p.Leu809Val) c.1699T>G (p.Leu567Val) | gnomAD v4 |
| 12 | g.21852445A>G | CA478872143 | ABCC9 | c.2566T>C (p.Leu856=) n.143T>C c.*1664T>C (n.*1664T>C) n.2067T>C c.2515T>C (p.Leu839=) c.1447T>C (p.Leu483=) c.2527T>C (p.Leu843=) c.2425T>C (p.Leu809=) c.1699T>C (p.Leu567=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21852445A>T | CA384125600 | ABCC9 | c.2566T>A (p.Leu856Met) n.143T>A c.*1664T>A (n.*1664T>A) n.2067T>A c.2515T>A (p.Leu839Met) c.1447T>A (p.Leu483Met) c.2527T>A (p.Leu843Met) c.2425T>A (p.Leu809Met) c.1699T>A (p.Leu567Met) | |
| 12 | g.21852446A>C | CA384125602 | ABCC9 | c.2565T>G (p.Ile855Met) n.142T>G c.*1663T>G (n.*1663T>G) n.2066T>G c.2514T>G (p.Ile838Met) c.1446T>G (p.Ile482Met) c.2526T>G (p.Ile842Met) c.2424T>G (p.Ile808Met) c.1698T>G (p.Ile566Met) | |
| 12 | g.21852446A>G | CA478872146 | ABCC9 | c.2565T>C (p.Ile855=) n.142T>C c.*1663T>C (n.*1663T>C) n.2066T>C c.2514T>C (p.Ile838=) c.1446T>C (p.Ile482=) c.2526T>C (p.Ile842=) c.2424T>C (p.Ile808=) c.1698T>C (p.Ile566=) | |
| 12 | g.21852446A>T | CA478872148 | ABCC9 | c.2565T>A (p.Ile855=) n.142T>A c.*1663T>A (n.*1663T>A) n.2066T>A c.2514T>A (p.Ile838=) c.1446T>A (p.Ile482=) c.2526T>A (p.Ile842=) c.2424T>A (p.Ile808=) c.1698T>A (p.Ile566=) | |
| 12 | g.21852447A>C | CA384125604 | ABCC9 | c.2564T>G (p.Ile855Ser) n.141T>G c.*1662T>G (n.*1662T>G) n.2065T>G c.2513T>G (p.Ile838Ser) c.1445T>G (p.Ile482Ser) c.2525T>G (p.Ile842Ser) c.2423T>G (p.Ile808Ser) c.1697T>G (p.Ile566Ser) | |
| 12 | g.21852447A>G | CA384125606 | ABCC9 | c.2564T>C (p.Ile855Thr) n.141T>C c.*1662T>C (n.*1662T>C) n.2065T>C c.2513T>C (p.Ile838Thr) c.1445T>C (p.Ile482Thr) c.2525T>C (p.Ile842Thr) c.2423T>C (p.Ile808Thr) c.1697T>C (p.Ile566Thr) | |
| 12 | g.21852447A>T | CA384125607 | ABCC9 | c.2564T>A (p.Ile855Asn) n.141T>A c.*1662T>A (n.*1662T>A) n.2065T>A c.2513T>A (p.Ile838Asn) c.1445T>A (p.Ile482Asn) c.2525T>A (p.Ile842Asn) c.2423T>A (p.Ile808Asn) c.1697T>A (p.Ile566Asn) | |
| 12 | g.21852448T>A | CA384125609 | ABCC9 | c.2563A>T (p.Ile855Phe) n.140A>T c.*1661A>T (n.*1661A>T) n.2064A>T c.2512A>T (p.Ile838Phe) c.1444A>T (p.Ile482Phe) c.2524A>T (p.Ile842Phe) c.2422A>T (p.Ile808Phe) c.1696A>T (p.Ile566Phe) | |
| 12 | g.21852448T>C | CA384125611 | ABCC9 | c.2563A>G (p.Ile855Val) n.140A>G c.*1661A>G (n.*1661A>G) n.2064A>G c.2512A>G (p.Ile838Val) c.1444A>G (p.Ile482Val) c.2524A>G (p.Ile842Val) c.2422A>G (p.Ile808Val) c.1696A>G (p.Ile566Val) | |
| 12 | g.21852448T>G | CA384125613 | ABCC9 | c.2563A>C (p.Ile855Leu) n.140A>C c.*1661A>C (n.*1661A>C) n.2064A>C c.2512A>C (p.Ile838Leu) c.1444A>C (p.Ile482Leu) c.2524A>C (p.Ile842Leu) c.2422A>C (p.Ile808Leu) c.1696A>C (p.Ile566Leu) | |
| 12 | g.21852449C>A | CA478872158 | ABCC9 | c.2562G>T (p.Gly854=) n.139G>T c.*1660G>T (n.*1660G>T) n.2063G>T c.2511G>T (p.Gly837=) c.1443G>T (p.Gly481=) c.2523G>T (p.Gly841=) c.2421G>T (p.Gly807=) c.1695G>T (p.Gly565=) | |
| 12 | g.21852449C>G | CA478872154 | ABCC9 | c.2562G>C (p.Gly854=) n.139G>C c.*1660G>C (n.*1660G>C) n.2063G>C c.2511G>C (p.Gly837=) c.1443G>C (p.Gly481=) c.2523G>C (p.Gly841=) c.2421G>C (p.Gly807=) c.1695G>C (p.Gly565=) | |
| 12 | g.21852449C>T | CA478872156 | ABCC9 | c.2562G>A (p.Gly854=) n.139G>A c.*1660G>A (n.*1660G>A) n.2063G>A c.2511G>A (p.Gly837=) c.1443G>A (p.Gly481=) c.2523G>A (p.Gly841=) c.2421G>A (p.Gly807=) c.1695G>A (p.Gly565=) | gnomAD v4 COSMIC COSMIC |
| 12 | g.21852450C>A | CA384125616 | ABCC9 | c.2561G>T (p.Gly854Val) n.138G>T c.*1659G>T (n.*1659G>T) n.2062G>T c.2510G>T (p.Gly837Val) c.1442G>T (p.Gly481Val) c.2522G>T (p.Gly841Val) c.2420G>T (p.Gly807Val) c.1694G>T (p.Gly565Val) | |
| 12 | g.21852450C= | CA2021298001 | ABCC9 | c.2561G= (p.Gly854=) n.138G= c.*1659G= (n.*1659G=) n.2062G= c.2510G= (p.Gly837=) c.1442G= (p.Gly481=) c.2522G= (p.Gly841=) c.2420G= (p.Gly807=) c.1694G= (p.Gly565=) | |
| 12 | g.21852450C>G | CA384125617 | ABCC9 | c.2561G>C (p.Gly854Ala) n.138G>C c.*1659G>C (n.*1659G>C) n.2062G>C c.2510G>C (p.Gly837Ala) c.1442G>C (p.Gly481Ala) c.2522G>C (p.Gly841Ala) c.2420G>C (p.Gly807Ala) c.1694G>C (p.Gly565Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21852450C>T | CA384125619 | ABCC9 | c.2561G>A (p.Gly854Glu) n.138G>A c.*1659G>A (n.*1659G>A) n.2062G>A c.2510G>A (p.Gly837Glu) c.1442G>A (p.Gly481Glu) c.2522G>A (p.Gly841Glu) c.2420G>A (p.Gly807Glu) c.1694G>A (p.Gly565Glu) | |
| 12 | g.21852451C>A | CA384125621 | ABCC9 | c.2560G>T (p.Gly854Trp) n.137G>T c.*1658G>T (n.*1658G>T) n.2061G>T c.2509G>T (p.Gly837Trp) c.1441G>T (p.Gly481Trp) c.2521G>T (p.Gly841Trp) c.2419G>T (p.Gly807Trp) c.1693G>T (p.Gly565Trp) | |
| 12 | g.21852451C= | CA2021298002 | ABCC9 | c.2560G= (p.Gly854=) n.137G= c.*1658G= (n.*1658G=) n.2061G= c.2509G= (p.Gly837=) c.1441G= (p.Gly481=) c.2521G= (p.Gly841=) c.2419G= (p.Gly807=) c.1693G= (p.Gly565=) | |
| 12 | g.21852451C>G | CA384125623 | ABCC9 | c.2560G>C (p.Gly854Arg) n.137G>C c.*1658G>C (n.*1658G>C) n.2061G>C c.2509G>C (p.Gly837Arg) c.1441G>C (p.Gly481Arg) c.2521G>C (p.Gly841Arg) c.2419G>C (p.Gly807Arg) c.1693G>C (p.Gly565Arg) | |
| 12 | g.21852451C>T | CA384125625 | ABCC9 | c.2560G>A (p.Gly854Arg) n.137G>A c.*1658G>A (n.*1658G>A) n.2061G>A c.2509G>A (p.Gly837Arg) c.1441G>A (p.Gly481Arg) c.2521G>A (p.Gly841Arg) c.2419G>A (p.Gly807Arg) c.1693G>A (p.Gly565Arg) | dbSNP gnomAD v2 |
| 12 | g.21852452C>A | CA384125627 | ABCC9 | c.2559G>T (p.Glu853Asp) n.136G>T c.*1657G>T (n.*1657G>T) n.2060G>T c.2508G>T (p.Glu836Asp) c.1440G>T (p.Glu480Asp) c.2520G>T (p.Glu840Asp) c.2418G>T (p.Glu806Asp) c.1692G>T (p.Glu564Asp) | |
| 12 | g.21852452C>G | CA384125628 | ABCC9 | c.2559G>C (p.Glu853Asp) n.136G>C c.*1657G>C (n.*1657G>C) n.2060G>C c.2508G>C (p.Glu836Asp) c.1440G>C (p.Glu480Asp) c.2520G>C (p.Glu840Asp) c.2418G>C (p.Glu806Asp) c.1692G>C (p.Glu564Asp) | |
| 12 | g.21852452C>T | CA478872164 | ABCC9 | c.2559G>A (p.Glu853=) n.136G>A c.*1657G>A (n.*1657G>A) n.2060G>A c.2508G>A (p.Glu836=) c.1440G>A (p.Glu480=) c.2520G>A (p.Glu840=) c.2418G>A (p.Glu806=) c.1692G>A (p.Glu564=) | |
| 12 | g.21852453T>A | CA384125630 | ABCC9 | c.2558A>T (p.Glu853Val) n.135A>T c.*1656A>T (n.*1656A>T) n.2059A>T c.2507A>T (p.Glu836Val) c.1439A>T (p.Glu480Val) c.2519A>T (p.Glu840Val) c.2417A>T (p.Glu806Val) c.1691A>T (p.Glu564Val) | |
| 12 | g.21852453T>C | CA384125633 | ABCC9 | c.2558A>G (p.Glu853Gly) n.135A>G c.*1656A>G (n.*1656A>G) n.2059A>G c.2507A>G (p.Glu836Gly) c.1439A>G (p.Glu480Gly) c.2519A>G (p.Glu840Gly) c.2417A>G (p.Glu806Gly) c.1691A>G (p.Glu564Gly) | |
| 12 | g.21852453T>G | CA384125634 | ABCC9 | c.2558A>C (p.Glu853Ala) n.135A>C c.*1656A>C (n.*1656A>C) n.2059A>C c.2507A>C (p.Glu836Ala) c.1439A>C (p.Glu480Ala) c.2519A>C (p.Glu840Ala) c.2417A>C (p.Glu806Ala) c.1691A>C (p.Glu564Ala) | |
| 12 | g.21852454C>A | CA384125637 | ABCC9 | c.2557G>T (p.Glu853Ter) n.134G>T c.*1655G>T (n.*1655G>T) n.2058G>T c.2506G>T (p.Glu836Ter) c.1438G>T (p.Glu480Ter) c.2518G>T (p.Glu840Ter) c.2416G>T (p.Glu806Ter) c.1690G>T (p.Glu564Ter) | |
| 12 | g.21852454C= | CA2021298009 | ABCC9 | c.2557G= (p.Glu853=) n.134G= c.*1655G= (n.*1655G=) n.2058G= c.2506G= (p.Glu836=) c.1438G= (p.Glu480=) c.2518G= (p.Glu840=) c.2416G= (p.Glu806=) c.1690G= (p.Glu564=) | |
| 12 | g.21852454C>G | CA384125638 | ABCC9 | c.2557G>C (p.Glu853Gln) n.134G>C c.*1655G>C (n.*1655G>C) n.2058G>C c.2506G>C (p.Glu836Gln) c.1438G>C (p.Glu480Gln) c.2518G>C (p.Glu840Gln) c.2416G>C (p.Glu806Gln) c.1690G>C (p.Glu564Gln) | COSMIC COSMIC |
| 12 | g.21852454C>T | CA384125640 | ABCC9 | c.2557G>A (p.Glu853Lys) n.134G>A c.*1655G>A (n.*1655G>A) n.2058G>A c.2506G>A (p.Glu836Lys) c.1438G>A (p.Glu480Lys) c.2518G>A (p.Glu840Lys) c.2416G>A (p.Glu806Lys) c.1690G>A (p.Glu564Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.21852455C>A | CA384125644 | ABCC9 | c.2556G>T (p.Gln852His) n.133G>T c.*1654G>T (n.*1654G>T) n.2057G>T c.2506-1G>T (n.2506-1G>T) c.1437G>T (p.Gln479His) c.2517G>T (p.Gln839His) c.2415G>T (p.Gln805His) c.1689G>T (p.Gln563His) | |
| 12 | g.21852455C>G | CA384125643 | ABCC9 | c.2556G>C (p.Gln852His) n.133G>C c.*1654G>C (n.*1654G>C) n.2057G>C c.2506-1G>C (n.2506-1G>C) c.1437G>C (p.Gln479His) c.2517G>C (p.Gln839His) c.2415G>C (p.Gln805His) c.1689G>C (p.Gln563His) | ClinVar |
| 12 | g.21852455C>T | CA478872173 | ABCC9 | c.2556G>A (p.Gln852=) n.133G>A c.*1654G>A (n.*1654G>A) n.2057G>A c.2506-1G>A (n.2506-1G>A) c.1437G>A (p.Gln479=) c.2517G>A (p.Gln839=) c.2415G>A (p.Gln805=) c.1689G>A (p.Gln563=) | |
| 12 | g.21852456T>A | CA384125647 | ABCC9 | c.2555A>T (p.Gln852Leu) n.132A>T c.*1653A>T (n.*1653A>T) n.2056A>T c.2506-2A>T (n.2506-2A>T) c.1436A>T (p.Gln479Leu) c.2516A>T (p.Gln839Leu) c.2414A>T (p.Gln805Leu) c.1688A>T (p.Gln563Leu) | |
| 12 | g.21852456T>C | CA384125648 | ABCC9 | c.2555A>G (p.Gln852Arg) n.132A>G c.*1653A>G (n.*1653A>G) n.2056A>G c.2506-2A>G (n.2506-2A>G) c.1436A>G (p.Gln479Arg) c.2516A>G (p.Gln839Arg) c.2414A>G (p.Gln805Arg) c.1688A>G (p.Gln563Arg) | |
| 12 | g.21852456T>G | CA384125650 | ABCC9 | c.2555A>C (p.Gln852Pro) n.132A>C c.*1653A>C (n.*1653A>C) n.2056A>C c.2506-2A>C (n.2506-2A>C) c.1436A>C (p.Gln479Pro) c.2516A>C (p.Gln839Pro) c.2414A>C (p.Gln805Pro) c.1688A>C (p.Gln563Pro) | |
| 12 | g.21852457G>A | CA325662 | ABCC9 | c.2554C>T (p.Gln852Ter) n.131C>T c.*1652C>T (n.*1652C>T) n.2055C>T c.2506-3C>T (n.2506-3C>T) c.1435C>T (p.Gln479Ter) c.2515C>T (p.Gln839Ter) c.2413C>T (p.Gln805Ter) c.1687C>T (p.Gln563Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21852457G>C | CA384125653 | ABCC9 | c.2554C>G (p.Gln852Glu) n.131C>G c.*1652C>G (n.*1652C>G) n.2055C>G c.2506-3C>G (n.2506-3C>G) c.1435C>G (p.Gln479Glu) c.2515C>G (p.Gln839Glu) c.2413C>G (p.Gln805Glu) c.1687C>G (p.Gln563Glu) | |
| 12 | g.21852457G= | CA2021298015 | ABCC9 | c.2554C= (p.Gln852=) n.131C= c.*1652C= (n.*1652C=) n.2055C= c.2506-3C= (n.2506-3C=) c.1435C= (p.Gln479=) c.2515C= (p.Gln839=) c.2413C= (p.Gln805=) c.1687C= (p.Gln563=) | |
| 12 | g.21852457G>T | CA384125655 | ABCC9 | c.2554C>A (p.Gln852Lys) n.131C>A c.*1652C>A (n.*1652C>A) n.2055C>A c.2506-3C>A (n.2506-3C>A) c.1435C>A (p.Gln479Lys) c.2515C>A (p.Gln839Lys) c.2413C>A (p.Gln805Lys) c.1687C>A (p.Gln563Lys) | |
| 12 | g.21852458C>A | CA384125661 | ABCC9 | c.2553G>T (p.Met851Ile) n.130G>T c.*1651G>T (n.*1651G>T) n.2054G>T c.2506-4G>T (n.2506-4G>T) c.1434G>T (p.Met478Ile) c.2514G>T (p.Met838Ile) c.2412G>T (p.Met804Ile) c.1686G>T (p.Met562Ile) | |
| 12 | g.21852458C>G | CA384125657 | ABCC9 | c.2553G>C (p.Met851Ile) n.130G>C c.*1651G>C (n.*1651G>C) n.2054G>C c.2506-4G>C (n.2506-4G>C) c.1434G>C (p.Met478Ile) c.2514G>C (p.Met838Ile) c.2412G>C (p.Met804Ile) c.1686G>C (p.Met562Ile) | |
| 12 | g.21852458C>T | CA384125659 | ABCC9 | c.2553G>A (p.Met851Ile) n.130G>A c.*1651G>A (n.*1651G>A) n.2054G>A c.2506-4G>A (n.2506-4G>A) c.1434G>A (p.Met478Ile) c.2514G>A (p.Met838Ile) c.2412G>A (p.Met804Ile) c.1686G>A (p.Met562Ile) | ClinVar |