Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.43877533_43877537delinsTGTGA | CA2493964979 | ABCG8 | c.1757-28_1757-24delinsTGTGA (n.1757-28_1757-24delinsTGTGA) c.1754-28_1754-24delinsTGTGA (n.1754-28_1754-24delinsTGTGA) c.1769-28_1769-24delinsTGTGA (n.1769-28_1769-24delinsTGTGA) c.1766-28_1766-24delinsTGTGA (n.1766-28_1766-24delinsTGTGA) c.1541-28_1541-24delinsTGTGA (n.1541-28_1541-24delinsTGTGA) n.2259-28_2259-24delinsTGTGA n.2273-28_2273-24delinsTGTGA | |
2 | g.43877536_43877539del | CA1637643 | ABCG8 | c.1757-25_1757-22del (n.1757-25_1757-22del) c.1754-25_1754-22del (n.1754-25_1754-22del) c.1769-25_1769-22del (n.1769-25_1769-22del) c.1766-25_1766-22del (n.1766-25_1766-22del) c.1541-25_1541-22del (n.1541-25_1541-22del) n.2259-25_2259-22del n.2273-25_2273-22del | dbSNP ExAC gnomAD v2 |
2 | g.43877536G>A | CA1637645 | ABCG8 | c.1757-25G>A (n.1757-25G>A) c.1754-25G>A (n.1754-25G>A) c.1769-25G>A (n.1769-25G>A) c.1766-25G>A (n.1766-25G>A) c.1541-25G>A (n.1541-25G>A) n.2259-25G>A n.2273-25G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877536G= | CA2493964981 | ABCG8 | c.1757-25G= (n.1757-25G=) c.1754-25G= (n.1754-25G=) c.1769-25G= (n.1769-25G=) c.1766-25G= (n.1766-25G=) c.1541-25G= (n.1541-25G=) n.2259-25G= n.2273-25G= | |
2 | g.43877537A= | CA2493964982 | ABCG8 | c.1757-24A= (n.1757-24A=) c.1754-24A= (n.1754-24A=) c.1769-24A= (n.1769-24A=) c.1766-24A= (n.1766-24A=) c.1541-24A= (n.1541-24A=) n.2259-24A= n.2273-24A= | |
2 | g.43877537A>C | CA1637646 | ABCG8 | c.1757-24A>C (n.1757-24A>C) c.1754-24A>C (n.1754-24A>C) c.1769-24A>C (n.1769-24A>C) c.1766-24A>C (n.1766-24A>C) c.1541-24A>C (n.1541-24A>C) n.2259-24A>C n.2273-24A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877537A>G | CA1637647 | ABCG8 | c.1757-24A>G (n.1757-24A>G) c.1754-24A>G (n.1754-24A>G) c.1769-24A>G (n.1769-24A>G) c.1766-24A>G (n.1766-24A>G) c.1541-24A>G (n.1541-24A>G) n.2259-24A>G n.2273-24A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877537_43877538delinsAG | CA2493964983 | ABCG8 | c.1757-24_1757-23delinsAG (n.1757-24_1757-23delinsAG) c.1754-24_1754-23delinsAG (n.1754-24_1754-23delinsAG) c.1769-24_1769-23delinsAG (n.1769-24_1769-23delinsAG) c.1766-24_1766-23delinsAG (n.1766-24_1766-23delinsAG) c.1541-24_1541-23delinsAG (n.1541-24_1541-23delinsAG) n.2259-24_2259-23delinsAG n.2273-24_2273-23delinsAG | |
2 | g.43877538del | CA769091273 | ABCG8 | c.1757-23del (n.1757-23del) c.1754-23del (n.1754-23del) c.1769-23del (n.1769-23del) c.1766-23del (n.1766-23del) c.1541-23del (n.1541-23del) n.2259-23del n.2273-23del | dbSNP gnomAD v4 |
2 | g.43877538G>A | CA2658838066 | ABCG8 | c.1757-23G>A (n.1757-23G>A) c.1754-23G>A (n.1754-23G>A) c.1769-23G>A (n.1769-23G>A) c.1766-23G>A (n.1766-23G>A) c.1541-23G>A (n.1541-23G>A) n.2259-23G>A n.2273-23G>A | gnomAD v4 |
2 | g.43877542C>A | CA2493964984 | ABCG8 | c.1757-19C>A (n.1757-19C>A) c.1754-19C>A (n.1754-19C>A) c.1769-19C>A (n.1769-19C>A) c.1766-19C>A (n.1766-19C>A) c.1541-19C>A (n.1541-19C>A) n.2259-19C>A n.2273-19C>A | dbSNP gnomAD v4 |
2 | g.43877542C= | CA2493964985 | ABCG8 | c.1757-19C= (n.1757-19C=) c.1754-19C= (n.1754-19C=) c.1769-19C= (n.1769-19C=) c.1766-19C= (n.1766-19C=) c.1541-19C= (n.1541-19C=) n.2259-19C= n.2273-19C= | |
2 | g.43877542C>G | CA2576953923 | ABCG8 | c.1757-19C>G (n.1757-19C>G) c.1754-19C>G (n.1754-19C>G) c.1769-19C>G (n.1769-19C>G) c.1766-19C>G (n.1766-19C>G) c.1541-19C>G (n.1541-19C>G) n.2259-19C>G n.2273-19C>G | gnomAD v4 |
2 | g.43877542C>T | CA532288596 | ABCG8 | c.1757-19C>T (n.1757-19C>T) c.1754-19C>T (n.1754-19C>T) c.1769-19C>T (n.1769-19C>T) c.1766-19C>T (n.1766-19C>T) c.1541-19C>T (n.1541-19C>T) n.2259-19C>T n.2273-19C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877543G>A | CA769091278 | ABCG8 | c.1757-18G>A (n.1757-18G>A) c.1754-18G>A (n.1754-18G>A) c.1769-18G>A (n.1769-18G>A) c.1766-18G>A (n.1766-18G>A) c.1541-18G>A (n.1541-18G>A) n.2259-18G>A n.2273-18G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877543G= | CA2493964986 | ABCG8 | c.1757-18G= (n.1757-18G=) c.1754-18G= (n.1754-18G=) c.1769-18G= (n.1769-18G=) c.1766-18G= (n.1766-18G=) c.1541-18G= (n.1541-18G=) n.2259-18G= n.2273-18G= | |
2 | g.43877544C>T | CA2658838067 | ABCG8 | c.1757-17C>T (n.1757-17C>T) c.1754-17C>T (n.1754-17C>T) c.1769-17C>T (n.1769-17C>T) c.1766-17C>T (n.1766-17C>T) c.1541-17C>T (n.1541-17C>T) n.2259-17C>T n.2273-17C>T | gnomAD v4 |
2 | g.43877545G>A | CA2658838068 | ABCG8 | c.1757-16G>A (n.1757-16G>A) c.1754-16G>A (n.1754-16G>A) c.1769-16G>A (n.1769-16G>A) c.1766-16G>A (n.1766-16G>A) c.1541-16G>A (n.1541-16G>A) n.2259-16G>A n.2273-16G>A | gnomAD v4 |
2 | g.43877545G>C | CA769091282 | ABCG8 | c.1757-16G>C (n.1757-16G>C) c.1754-16G>C (n.1754-16G>C) c.1769-16G>C (n.1769-16G>C) c.1766-16G>C (n.1766-16G>C) c.1541-16G>C (n.1541-16G>C) n.2259-16G>C n.2273-16G>C | dbSNP |
2 | g.43877545G= | CA2493964987 | ABCG8 | c.1757-16G= (n.1757-16G=) c.1754-16G= (n.1754-16G=) c.1769-16G= (n.1769-16G=) c.1766-16G= (n.1766-16G=) c.1541-16G= (n.1541-16G=) n.2259-16G= n.2273-16G= | |
2 | g.43877546G>A | CA1637649 | ABCG8 | c.1757-15G>A (n.1757-15G>A) c.1754-15G>A (n.1754-15G>A) c.1769-15G>A (n.1769-15G>A) c.1766-15G>A (n.1766-15G>A) c.1541-15G>A (n.1541-15G>A) n.2259-15G>A n.2273-15G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877546G= | CA2493964989 | ABCG8 | c.1757-15G= (n.1757-15G=) c.1754-15G= (n.1754-15G=) c.1769-15G= (n.1769-15G=) c.1766-15G= (n.1766-15G=) c.1541-15G= (n.1541-15G=) n.2259-15G= n.2273-15G= | |
2 | g.43877546G>T | CA1029989169 | ABCG8 | c.1757-15G>T (n.1757-15G>T) c.1754-15G>T (n.1754-15G>T) c.1769-15G>T (n.1769-15G>T) c.1766-15G>T (n.1766-15G>T) c.1541-15G>T (n.1541-15G>T) n.2259-15G>T n.2273-15G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877546_43877550delinsGCTGT | CA2493964988 | ABCG8 | c.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 | |
2 | g.43877547C>A | CA2493964991 | ABCG8 | c.1757-14C>A (n.1757-14C>A) c.1754-14C>A (n.1754-14C>A) c.1769-14C>A (n.1769-14C>A) c.1766-14C>A (n.1766-14C>A) c.1541-14C>A (n.1541-14C>A) n.2259-14C>A n.2273-14C>A | dbSNP gnomAD v4 |
2 | g.43877547C= | CA2493964990 | ABCG8 | c.1757-14C= (n.1757-14C=) c.1754-14C= (n.1754-14C=) c.1769-14C= (n.1769-14C=) c.1766-14C= (n.1766-14C=) c.1541-14C= (n.1541-14C=) n.2259-14C= n.2273-14C= | |
2 | g.43877547C>T | CA1637650 | ABCG8 | c.1757-14C>T (n.1757-14C>T) c.1754-14C>T (n.1754-14C>T) c.1769-14C>T (n.1769-14C>T) c.1766-14C>T (n.1766-14C>T) c.1541-14C>T (n.1541-14C>T) n.2259-14C>T n.2273-14C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877553_43877556del | CA1637648 | ABCG8 | c.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 |
2 | g.43877549G>A | CA2576953924 | ABCG8 | c.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 |
2 | g.43877551C= | CA2493964992 | ABCG8 | c.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= | |
2 | g.43877551C>T | CA532288597 | ABCG8 | c.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 |
2 | g.43877552T>G | CA532288598 | ABCG8 | c.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 |
2 | g.43877552T= | CA2493964993 | ABCG8 | c.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= | |
2 | g.43877555C= | CA2493964994 | ABCG8 | c.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= | |
2 | g.43877555C>G | CA2658838069 | ABCG8 | c.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 |
2 | g.43877555C>T | CA532288599 | ABCG8 | c.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 |
2 | g.43877557C= | CA2493964995 | ABCG8 | c.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= | |
2 | g.43877557C>G | CA1637651 | ABCG8 | c.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 |
2 | g.43877559A= | CA2493964996 | ABCG8 | c.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= | |
2 | g.43877559A>C | CA346670744 | ABCG8 | c.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 | |
2 | g.43877559A>G | CA346670745 | ABCG8 | c.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 |
2 | g.43877559A>T | CA346670746 | ABCG8 | c.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 | |
2 | g.43877560G>A | CA346670747 | ABCG8 | c.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 | |
2 | g.43877560G>C | CA1637653 | ABCG8 | c.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 |
2 | g.43877560G= | CA2493964997 | ABCG8 | c.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= | |
2 | g.43877560G>T | CA1637652 | ABCG8 | c.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 |
2 | g.43877561T>A | CA346670748 | ABCG8 | c.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 |
2 | g.43877561T>C | CA346670749 | ABCG8 | c.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 | |
2 | g.43877561T>G | CA346670750 | ABCG8 | c.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 | |
2 | g.43877562G>A | CA425908149 | ABCG8 | c.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 | |
2 | g.43877562G>C | CA425908150 | ABCG8 | c.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 | |
2 | g.43877562G>T | CA425908151 | ABCG8 | c.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 | |
2 | g.43877562_43877563delinsGC | CA2493964998 | ABCG8 | c.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 | |
2 | g.43877563C>A | CA346670751 | ABCG8 | c.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 | |
2 | g.43877563C= | CA2493964999 | ABCG8 | c.1759C= (p.Pro587=) c.1756C= (p.Pro586=) c.1771C= (p.Pro591=) c.1768C= (p.Pro590=) c.1543C= (p.Pro515=) n.2261C= n.2275C= | |
2 | g.43877563C>G | CA1637655 | ABCG8 | c.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 |
2 | g.43877563C>T | CA1637654 | ABCG8 | c.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 |
2 | g.43877565del | CA2493965000 | ABCG8 | c.1761del (p.Ala588ArgfsTer16) c.1758del (p.Ala587ArgfsTer16) c.1773del (p.Ala592ArgfsTer16) c.1770del (p.Ala591ArgfsTer16) c.1545del (p.Ala516ArgfsTer16) n.2263del n.2277del | dbSNP |
2 | g.43877564C>A | CA1637656 | ABCG8 | c.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 |
2 | g.43877564C= | CA2493965001 | ABCG8 | c.1760C= (p.Pro587=) c.1757C= (p.Pro586=) c.1772C= (p.Pro591=) c.1769C= (p.Pro590=) c.1544C= (p.Pro515=) n.2262C= n.2276C= | |
2 | g.43877564C>G | CA346670752 | ABCG8 | c.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 | |
2 | g.43877564C>T | CA346670753 | ABCG8 | c.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 |
2 | g.43877565C>A | CA425908153 | ABCG8 | c.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 |
2 | g.43877565C= | CA2493965002 | ABCG8 | c.1761C= (p.Pro587=) c.1758C= (p.Pro586=) c.1773C= (p.Pro591=) c.1770C= (p.Pro590=) c.1545C= (p.Pro515=) n.2263C= n.2277C= | |
2 | g.43877565C>G | CA425908154 | ABCG8 | c.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 | |
2 | g.43877565C>T | CA1637657 | ABCG8 | c.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 |
2 | g.43877566G>A | CA1637658 | ABCG8 | c.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 |
2 | g.43877566G>C | CA1637659 | ABCG8 | c.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 |
2 | g.43877566G= | CA2493965003 | ABCG8 | c.1762G= (p.Ala588=) c.1759G= (p.Ala587=) c.1774G= (p.Ala592=) c.1771G= (p.Ala591=) c.1546G= (p.Ala516=) n.2264G= n.2278G= | |
2 | g.43877566G>T | CA346670754 | ABCG8 | c.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 |
2 | g.43877567C>A | CA1637660 | ABCG8 | c.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 |
2 | g.43877567C= | CA2493965004 | ABCG8 | c.1763C= (p.Ala588=) c.1760C= (p.Ala587=) c.1775C= (p.Ala592=) c.1772C= (p.Ala591=) c.1547C= (p.Ala516=) n.2265C= n.2279C= | |
2 | g.43877567C>G | CA346670756 | ABCG8 | c.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 | |
2 | g.43877567C>T | CA346670755 | ABCG8 | c.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 |
2 | g.43877568G>A | CA1637661 | ABCG8 | c.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 |
2 | g.43877568G>C | CA425908155 | ABCG8 | c.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 | |
2 | g.43877568G= | CA2493965005 | ABCG8 | c.1764G= (p.Ala588=) c.1761G= (p.Ala587=) c.1776G= (p.Ala592=) c.1773G= (p.Ala591=) c.1548G= (p.Ala516=) n.2266G= n.2280G= | |
2 | g.43877568G>T | CA425908156 | ABCG8 | c.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 | |
2 | g.43877569T>A | CA346670757 | ABCG8 | c.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 | |
2 | g.43877569T>C | CA346670758 | ABCG8 | c.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 | |
2 | g.43877569T>G | CA346670759 | ABCG8 | c.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 | |
2 | g.43877570G>A | CA346670760 | ABCG8 | c.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 | |
2 | g.43877570G>C | CA346670761 | ABCG8 | c.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 | |
2 | g.43877570G>T | CA346670762 | ABCG8 | c.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 | |
2 | g.43877571G>A | CA346670763 | ABCG8 | c.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 | |
2 | g.43877571G>C | CA346670764 | ABCG8 | c.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 | |
2 | g.43877571G>T | CA346670765 | ABCG8 | c.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 | |
2 | g.43877572A= | CA2493965006 | ABCG8 | c.1768A= (p.Ile590=) c.1765A= (p.Ile589=) c.1780A= (p.Ile594=) c.1777A= (p.Ile593=) c.1552A= (p.Ile518=) n.2270A= n.2284A= | |
2 | g.43877572A>C | CA1637662 | ABCG8 | c.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 |
2 | g.43877572A>G | CA346670766 | ABCG8 | c.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 | ClinVar |
2 | g.43877572A>T | CA346670767 | ABCG8 | c.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 | |
2 | g.43877573T>A | CA346670769 | ABCG8 | c.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 | |
2 | g.43877573T>C | CA346670770 | ABCG8 | c.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 | |
2 | g.43877573T>G | CA346670768 | ABCG8 | c.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 | |
2 | g.43877574T>A | CA425908157 | ABCG8 | c.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 | |
2 | g.43877574T>C | CA425908158 | ABCG8 | c.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 | |
2 | g.43877574T>G | CA346670771 | ABCG8 | c.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 | |
2 | g.43877575T>A | CA346670772 | ABCG8 | c.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 | |
2 | g.43877575T>C | CA346670773 | ABCG8 | c.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 | |
2 | g.43877575T>G | CA346670774 | ABCG8 | c.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 | |
2 | g.43877575T= | CA2493965007 | ABCG8 | c.1771T= (p.Ser591=) c.1768T= (p.Ser590=) c.1783T= (p.Ser595=) c.1780T= (p.Ser594=) c.1555T= (p.Ser519=) n.2273T= n.2287T= | |
2 | g.43877576C>A | CA346670775 | ABCG8 | c.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 | |
2 | g.43877576C= | CA2493965008 | ABCG8 | c.1772C= (p.Ser591=) c.1769C= (p.Ser590=) c.1784C= (p.Ser595=) c.1781C= (p.Ser594=) c.1556C= (p.Ser519=) n.2274C= n.2288C= | |
2 | g.43877576C>G | CA346670776 | ABCG8 | c.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 | |
2 | g.43877576C>T | CA346670777 | ABCG8 | c.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 |
2 | g.43877576_43877577dup | CA2493965009 | ABCG8 | c.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 |
2 | g.43877577C>A | CA425908159 | ABCG8 | c.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 | |
2 | g.43877577C>G | CA425908160 | ABCG8 | c.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 | |
2 | g.43877577C>T | CA425908161 | ABCG8 | c.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 |
2 | g.43877578A= | CA2493965010 | ABCG8 | c.1774A= (p.Lys592=) c.1771A= (p.Lys591=) c.1786A= (p.Lys596=) c.1783A= (p.Lys595=) c.1558A= (p.Lys520=) n.2276A= n.2290A= | |
2 | g.43877578A>C | CA346670778 | ABCG8 | c.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 | |
2 | g.43877578A>G | CA346670779 | ABCG8 | c.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 |
2 | g.43877578A>T | CA346670780 | ABCG8 | c.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 | |
2 | g.43877579A= | CA2493965011 | ABCG8 | c.1775A= (p.Lys592=) c.1772A= (p.Lys591=) c.1787A= (p.Lys596=) c.1784A= (p.Lys595=) c.1559A= (p.Lys520=) n.2277A= n.2291A= | |
2 | g.43877579A>C | CA346670781 | ABCG8 | c.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 | |
2 | g.43877579A>G | CA346670782 | ABCG8 | c.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 | |
2 | g.43877579A>T | CA346670783 | ABCG8 | c.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 |
2 | g.43877580A>C | CA346670784 | ABCG8 | c.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 | |
2 | g.43877580A>G | CA425908162 | ABCG8 | c.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 | |
2 | g.43877580A>T | CA346670785 | ABCG8 | c.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 | |
2 | g.43877581G>A | CA346670786 | ABCG8 | c.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 | |
2 | g.43877581G>C | CA346670787 | ABCG8 | c.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 | |
2 | g.43877581G= | CA2493965012 | ABCG8 | c.1777G= (p.Val593=) c.1774G= (p.Val592=) c.1789G= (p.Val597=) c.1786G= (p.Val596=) c.1561G= (p.Val521=) n.2279G= n.2293G= | |
2 | g.43877581G>T | CA346670788 | ABCG8 | c.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 |
2 | g.43877582T>A | CA346670789 | ABCG8 | c.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 | |
2 | g.43877582T>C | CA346670790 | ABCG8 | c.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 | |
2 | g.43877582T>G | CA346670791 | ABCG8 | c.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 |
2 | g.43877583G>A | CA425908163 | ABCG8 | c.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 | |
2 | g.43877583G>C | CA425908164 | ABCG8 | c.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 |
2 | g.43877583G= | CA2493965013 | ABCG8 | c.1779G= (p.Val593=) c.1776G= (p.Val592=) c.1791G= (p.Val597=) c.1788G= (p.Val596=) c.1563G= (p.Val521=) n.2281G= n.2295G= | |
2 | g.43877583G>T | CA425908165 | ABCG8 | c.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 | |
2 | g.43877584T>A | CA346670792 | ABCG8 | c.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 | |
2 | g.43877584T>C | CA346670793 | ABCG8 | c.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 | |
2 | g.43877584T>G | CA346670794 | ABCG8 | c.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 | ClinVar |
2 | g.43877585C>A | CA346670795 | ABCG8 | c.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 |
2 | g.43877585C= | CA2493965014 | ABCG8 | c.1781C= (p.Ser594=) c.1778C= (p.Ser593=) c.1793C= (p.Ser598=) c.1790C= (p.Ser597=) c.1565C= (p.Ser522=) n.2283C= n.2297C= | |
2 | g.43877585C>G | CA346670796 | ABCG8 | c.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 | |
2 | g.43877585C>T | CA346670797 | ABCG8 | c.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 | |
2 | g.43877586C>A | CA1637664 | ABCG8 | c.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 |
2 | g.43877586C= | CA2493965015 | ABCG8 | c.1782C= (p.Ser594=) c.1779C= (p.Ser593=) c.1794C= (p.Ser598=) c.1791C= (p.Ser597=) c.1566C= (p.Ser522=) n.2284C= n.2298C= | |
2 | g.43877586C>G | CA425908166 | ABCG8 | c.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 | |
2 | g.43877586C>T | CA1637663 | ABCG8 | c.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 |
2 | g.43877587T>A | CA346670798 | ABCG8 | c.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 | |
2 | g.43877587T>C | CA346670800 | ABCG8 | c.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 | |
2 | g.43877587T>G | CA346670799 | ABCG8 | c.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 | |
2 | g.43877588T>A | CA346670801 | ABCG8 | c.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 | |
2 | g.43877588T>C | CA346670803 | ABCG8 | c.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 | |
2 | g.43877588T>G | CA346670802 | ABCG8 | c.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 | |
2 | g.43877589C>A | CA346670804 | ABCG8 | c.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 | |
2 | g.43877589C= | CA2493965016 | ABCG8 | c.1785C= (p.Phe595=) c.1782C= (p.Phe594=) c.1797C= (p.Phe599=) c.1794C= (p.Phe598=) c.1569C= (p.Phe523=) n.2287C= n.2301C= | |
2 | g.43877589C>G | CA346670805 | ABCG8 | c.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 | |
2 | g.43877589C>T | CA1637665 | ABCG8 | c.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 |
2 | g.43877590C>A | CA346670806 | ABCG8 | c.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 | |
2 | g.43877590C>G | CA346670807 | ABCG8 | c.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 | |
2 | g.43877590C>T | CA425908168 | ABCG8 | c.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 |
2 | g.43877591T>A | CA346670808 | ABCG8 | c.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 |
2 | g.43877591T>C | CA346670809 | ABCG8 | c.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 | |
2 | g.43877591T>G | CA253368 | ABCG8 | c.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 |
2 | g.43877591T= | CA2493965017 | ABCG8 | c.1787T= (p.Leu596=) c.1784T= (p.Leu595=) c.1799T= (p.Leu600=) c.1796T= (p.Leu599=) c.1571T= (p.Leu524=) n.2289T= n.2303T= | |
2 | g.43877592G>A | CA425908170 | ABCG8 | c.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 |
2 | g.43877592G>C | CA425908171 | ABCG8 | c.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 | |
2 | g.43877592G= | CA2493965018 | ABCG8 | c.1788G= (p.Leu596=) c.1785G= (p.Leu595=) c.1800G= (p.Leu600=) c.1797G= (p.Leu599=) c.1572G= (p.Leu524=) n.2290G= n.2304G= | |
2 | g.43877592G>T | CA425908169 | ABCG8 | c.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 | |
2 | g.43877593C>A | CA46474130 | ABCG8 | c.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 |
2 | g.43877593C= | CA2493965019 | ABCG8 | c.1789C= (p.Arg597=) c.1786C= (p.Arg596=) c.1801C= (p.Arg601=) c.1798C= (p.Arg600=) c.1573C= (p.Arg525=) n.2291C= n.2305C= | |
2 | g.43877593C>G | CA346670810 | ABCG8 | c.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 | |
2 | g.43877593C>T | CA1637666 | ABCG8 | c.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 |
2 | g.43877594G>A | CA1637667 | ABCG8 | c.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 |
2 | g.43877594G>C | CA346670811 | ABCG8 | c.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 |
2 | g.43877594G= | CA2493965020 | ABCG8 | c.1790G= (p.Arg597=) c.1787G= (p.Arg596=) c.1802G= (p.Arg601=) c.1799G= (p.Arg600=) c.1574G= (p.Arg525=) n.2292G= n.2306G= | |
2 | g.43877594G>T | CA346670812 | ABCG8 | c.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 | |
2 | g.43877595del | CA2658838070 | ABCG8 | c.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 |
2 | g.43877595G>A | CA425908175 | ABCG8 | c.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 |
2 | g.43877595G>C | CA1637668 | ABCG8 | c.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 |
2 | g.43877595G= | CA2493965021 | ABCG8 | c.1791G= (p.Arg597=) c.1788G= (p.Arg596=) c.1803G= (p.Arg601=) c.1800G= (p.Arg600=) c.1575G= (p.Arg525=) n.2293G= n.2307G= | |
2 | g.43877595G>T | CA425908173 | ABCG8 | c.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 | |
2 | g.43877596T>A | CA346670813 | ABCG8 | c.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 | |
2 | g.43877596T>C | CA346670814 | ABCG8 | c.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 |
2 | g.43877596T>G | CA346670815 | ABCG8 | c.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 |
2 | g.43877597G>A | CA346670816 | ABCG8 | c.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 | |
2 | g.43877597G>C | CA346670817 | ABCG8 | c.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 | |
2 | g.43877597G>T | CA346670818 | ABCG8 | c.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 | |
2 | g.43877598G>A | CA346670819 | ABCG8 | c.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 |
2 | g.43877598G>C | CA46474190 | ABCG8 | c.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 |
2 | g.43877598G= | CA2493965022 | ABCG8 | c.1794G= (p.Trp598=) c.1791G= (p.Trp597=) c.1806G= (p.Trp602=) c.1803G= (p.Trp601=) c.1578G= (p.Trp526=) n.2296G= n.2310G= | |
2 | g.43877598G>T | CA346670820 | ABCG8 | c.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 | |
2 | g.43877600_43877601del | CA2658838071 | ABCG8 | c.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 |
2 | g.43877599T>A | CA346670821 | ABCG8 | c.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 | |
2 | g.43877599T>C | CA346670822 | ABCG8 | c.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 | |
2 | g.43877599T>G | CA346670823 | ABCG8 | c.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 | |
2 | g.43877600G>A | CA346670826 | ABCG8 | c.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 | |
2 | g.43877600G>C | CA346670825 | ABCG8 | c.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 | |
2 | g.43877600G>T | CA346670824 | ABCG8 | c.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 | |
2 | g.43877601T>A | CA346670828 | ABCG8 | c.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 | |
2 | g.43877601T>C | CA425908178 | ABCG8 | c.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 | |
2 | g.43877601T>G | CA346670827 | ABCG8 | c.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 |
2 | g.43877601T= | CA2493965023 | ABCG8 | c.1797T= (p.Cys599=) c.1794T= (p.Cys598=) c.1809T= (p.Cys603=) c.1806T= (p.Cys602=) c.1581T= (p.Cys527=) n.2299T= n.2313T= | |
2 | g.43877602T>A | CA346670829 | ABCG8 | c.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 | |
2 | g.43877602T>C | CA346670830 | ABCG8 | c.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 |
2 | g.43877602T>G | CA346670831 | ABCG8 | c.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 | |
2 | g.43877602T= | CA2493965024 | ABCG8 | c.1798T= (p.Phe600=) c.1795T= (p.Phe599=) c.1810T= (p.Phe604=) c.1807T= (p.Phe603=) c.1582T= (p.Phe528=) n.2300T= n.2314T= | |
2 | g.43877603T>A | CA346670832 | ABCG8 | c.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 | |
2 | g.43877603T>C | CA346670833 | ABCG8 | c.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 | |
2 | g.43877603T>G | CA346670834 | ABCG8 | c.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 |
2 | g.43877604T>A | CA346670835 | ABCG8 | c.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 | |
2 | g.43877604T>C | CA425908181 | ABCG8 | c.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 | |
2 | g.43877604T>G | CA346670836 | ABCG8 | c.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 | |
2 | g.43877605G>A | CA346670837 | ABCG8 | c.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 | |
2 | g.43877605G>C | CA346670838 | ABCG8 | c.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 |
2 | g.43877605G>T | CA346670839 | ABCG8 | c.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 | |
2 | g.43877606A>C | CA346670842 | ABCG8 | c.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 | |
2 | g.43877606A>G | CA346670841 | ABCG8 | c.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 | |
2 | g.43877606A>T | CA346670840 | ABCG8 | c.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 | |
2 | g.43877607A= | CA2493965025 | ABCG8 | c.1803A= (p.Glu601=) c.1800A= (p.Glu600=) c.1815A= (p.Glu605=) c.1812A= (p.Glu604=) c.1587A= (p.Glu529=) n.2305A= n.2319A= | |
2 | g.43877607A>C | CA346670843 | ABCG8 | c.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 | |
2 | g.43877607A>G | CA425908184 | ABCG8 | c.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 |
2 | g.43877607A>T | CA346670844 | ABCG8 | c.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 | |
2 | g.43877608G>A | CA1637669 | ABCG8 | c.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 |
2 | g.43877608G>C | CA346670845 | ABCG8 | c.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 | |
2 | g.43877608G= | CA2493965026 | ABCG8 | c.1804G= (p.Gly602=) c.1801G= (p.Gly601=) c.1816G= (p.Gly606=) c.1813G= (p.Gly605=) c.1588G= (p.Gly530=) n.2306G= n.2320G= | |
2 | g.43877608G>T | CA346670846 | ABCG8 | c.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 | |
2 | g.43877609G>A | CA346670847 | ABCG8 | c.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 | |
2 | g.43877609G>C | CA346670848 | ABCG8 | c.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 | |
2 | g.43877609G>T | CA346670849 | ABCG8 | c.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 | |
2 | g.43877610G>A | CA425908189 | ABCG8 | c.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 |
2 | g.43877610G>C | CA425908190 | ABCG8 | c.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 | |
2 | g.43877610G>T | CA425908191 | ABCG8 | c.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 | |
2 | g.43877611C>A | CA346670850 | ABCG8 | c.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 | |
2 | g.43877611C= | CA2493965027 | ABCG8 | c.1807C= (p.Leu603=) c.1804C= (p.Leu602=) c.1819C= (p.Leu607=) c.1816C= (p.Leu606=) c.1591C= (p.Leu531=) n.2309C= n.2323C= | |
2 | g.43877611C>G | CA1637670 | ABCG8 | c.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 |
2 | g.43877611C>T | CA425908192 | ABCG8 | c.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 | |
2 | g.43877612T>A | CA346670851 | ABCG8 | c.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 | |
2 | g.43877612T>C | CA346670852 | ABCG8 | c.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 | |
2 | g.43877612T>G | CA346670853 | ABCG8 | c.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 | |
2 | g.43877613G>A | CA425908195 | ABCG8 | c.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 |
2 | g.43877613G>C | CA425908196 | ABCG8 | c.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 | |
2 | g.43877613G= | CA2493965028 | ABCG8 | c.1809G= (p.Leu603=) c.1806G= (p.Leu602=) c.1821G= (p.Leu607=) c.1818G= (p.Leu606=) c.1593G= (p.Leu531=) n.2311G= n.2325G= | |
2 | g.43877613G>T | CA425908194 | ABCG8 | c.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 |
2 | g.43877614A>C | CA346670855 | ABCG8 | c.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 | |
2 | g.43877614A>G | CA346670856 | ABCG8 | c.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 | |
2 | g.43877614A>T | CA346670854 | ABCG8 | c.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 |
2 | g.43877615T>A | CA346670857 | ABCG8 | c.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 | |
2 | g.43877615T>C | CA346670858 | ABCG8 | c.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 |
2 | g.43877615T>G | CA346670859 | ABCG8 | c.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 | |
2 | g.43877615_43877618delinsTGAA | CA2493965029 | ABCG8 | c.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 | |
2 | g.43877616G>A | CA346670860 | ABCG8 | c.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 |
2 | g.43877616G>C | CA346670861 | ABCG8 | c.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 | |
2 | g.43877616G= | CA2493965030 | ABCG8 | c.1812G= (p.Met604=) c.1809G= (p.Met603=) c.1824G= (p.Met608=) c.1821G= (p.Met607=) c.1596G= (p.Met532=) n.2314G= n.2328G= | |
2 | g.43877616G>T | CA346670862 | ABCG8 | c.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 |
2 | g.43877618_43877620del | CA1637671 | ABCG8 | c.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 |
2 | g.43877617A>C | CA346670863 | ABCG8 | c.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 | |
2 | g.43877617A>G | CA346670864 | ABCG8 | c.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 | |
2 | g.43877617A>T | CA346670865 | ABCG8 | c.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 | |
2 | g.43877618A>C | CA346670866 | ABCG8 | c.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 | |
2 | g.43877618A>G | CA346670867 | ABCG8 | c.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 | |
2 | g.43877618A>T | CA346670868 | ABCG8 | c.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 | |
2 | g.43877619G>A | CA1637672 | ABCG8 | c.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 |
2 | g.43877619G>C | CA346670870 | ABCG8 | c.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 | |
2 | g.43877619G= | CA2493965031 | ABCG8 | c.1815G= (p.Lys605=) c.1812G= (p.Lys604=) c.1827G= (p.Lys609=) c.1824G= (p.Lys608=) c.1599G= (p.Lys533=) n.2317G= n.2331G= | |
2 | g.43877619G>T | CA346670869 | ABCG8 | c.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 |
2 | g.43877620A= | CA2493965033 | ABCG8 | c.1816A= (p.Ile606=) c.1813A= (p.Ile605=) c.1828A= (p.Ile610=) c.1825A= (p.Ile609=) c.1600A= (p.Ile534=) n.2318A= n.2332A= | |
2 | g.43877620A>C | CA346670871 | ABCG8 | c.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 | |
2 | g.43877620A>G | CA346670872 | ABCG8 | c.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 |
2 | g.43877620A>T | CA346670873 | ABCG8 | c.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 |
2 | g.43877620_43877621delinsAT | CA2493965032 | ABCG8 | c.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 | |
2 | g.43877621T>A | CA346670874 | ABCG8 | c.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 | |
2 | g.43877621T>C | CA346670875 | ABCG8 | c.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 |
2 | g.43877621T>G | CA346670876 | ABCG8 | c.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 | |
2 | g.43877621T= | CA2493965034 | ABCG8 | c.1817T= (p.Ile606=) c.1814T= (p.Ile605=) c.1829T= (p.Ile610=) c.1826T= (p.Ile609=) c.1601T= (p.Ile534=) n.2319T= n.2333T= | |
2 | g.43877622del | CA769091425 | ABCG8 | c.1818del (p.Gln607SerfsTer?) c.1815del (p.Gln606SerfsTer?) c.1830del (p.Gln611SerfsTer?) c.1827del (p.Gln610SerfsTer?) c.1602del (p.Gln535SerfsTer?) n.2320del n.2334del | dbSNP |
2 | g.43877622T>A | CA425908203 | ABCG8 | c.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 | |
2 | g.43877622T>C | CA425908204 | ABCG8 | c.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 | |
2 | g.43877622T>G | CA346670877 | ABCG8 | c.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 | |
2 | g.43877623C>A | CA346670878 | ABCG8 | c.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 |
2 | g.43877623C= | CA2493965035 | ABCG8 | c.1819C= (p.Gln607=) c.1816C= (p.Gln606=) c.1831C= (p.Gln611=) c.1828C= (p.Gln610=) c.1603C= (p.Gln535=) n.2321C= n.2335C= | |
2 | g.43877623C>G | CA346670879 | ABCG8 | c.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 |
2 | g.43877623C>T | CA1637673 | ABCG8 | c.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 |
2 | g.43877624A= | CA2493965036 | ABCG8 | c.1820A= (p.Gln607=) c.1817A= (p.Gln606=) c.1832A= (p.Gln611=) c.1829A= (p.Gln610=) c.1604A= (p.Gln535=) n.2322A= n.2336A= | |
2 | g.43877624A>C | CA346670880 | ABCG8 | c.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 | |
2 | g.43877624A>G | CA346670881 | ABCG8 | c.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 |
2 | g.43877624A>T | CA346670882 | ABCG8 | c.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 |
2 | g.43877625G>A | CA1637674 | ABCG8 | c.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 |
2 | g.43877625G>C | CA346670884 | ABCG8 | c.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 |
2 | g.43877625G= | CA2493965037 | ABCG8 | c.1821G= (p.Gln607=) c.1818G= (p.Gln606=) c.1833G= (p.Gln611=) c.1830G= (p.Gln610=) c.1605G= (p.Gln535=) n.2323G= n.2337G= | |
2 | g.43877625G>T | CA346670883 | ABCG8 | c.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 |
2 | g.43877626T>A | CA346670885 | ABCG8 | c.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 | |
2 | g.43877626T>C | CA346670886 | ABCG8 | c.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 | |
2 | g.43877626T>G | CA346670887 | ABCG8 | c.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 | |
2 | g.43877627T>A | CA346670888 | ABCG8 | c.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 | |
2 | g.43877627T>C | CA346670889 | ABCG8 | c.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 | |
2 | g.43877627T>G | CA346670890 | ABCG8 | c.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 | |
2 | g.43877628C>A | CA346670891 | ABCG8 | c.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 | |
2 | g.43877628C>G | CA346670892 | ABCG8 | c.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 | |
2 | g.43877628C>T | CA425908211 | ABCG8 | c.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 | |
2 | g.43877629A= | CA2493965039 | ABCG8 | c.1825A= (p.Ser609=) c.1822A= (p.Ser608=) c.1837A= (p.Ser613=) c.1834A= (p.Ser612=) c.1609A= (p.Ser537=) n.2327A= n.2341A= | |
2 | g.43877629A>C | CA346670893 | ABCG8 | c.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 | |
2 | g.43877629A>G | CA346670894 | ABCG8 | c.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 |
2 | g.43877629A>T | CA346670895 | ABCG8 | c.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 | |
2 | g.43877629_43877630delinsAG | CA2493965038 | ABCG8 | c.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 | |
2 | g.43877630del | CA2493965040 | ABCG8 | c.1826del (p.Ser609ThrfsTer?) c.1823del (p.Ser608ThrfsTer?) c.1838del (p.Ser613ThrfsTer?) c.1835del (p.Ser612ThrfsTer?) c.1610del (p.Ser537ThrfsTer?) n.2328del n.2342del | dbSNP |
2 | g.43877630G>A | CA346670898 | ABCG8 | c.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 | |
2 | g.43877630G>C | CA346670897 | ABCG8 | c.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 |
2 | g.43877630G>T | CA346670896 | ABCG8 | c.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 | |
2 | g.43877631C>A | CA346670899 | ABCG8 | c.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 | |
2 | g.43877631C= | CA2493965042 | ABCG8 | c.1827C= (p.Ser609=) c.1824C= (p.Ser608=) c.1839C= (p.Ser613=) c.1836C= (p.Ser612=) c.1611C= (p.Ser537=) n.2329C= n.2343C= | |
2 | g.43877631C>G | CA346670900 | ABCG8 | c.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 | |
2 | g.43877631C>T | CA425908213 | ABCG8 | c.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 |
2 | g.43877631_43877634delinsCAGA | CA2493965041 | ABCG8 | c.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 | |
2 | g.43877632A>C | CA425908214 | ABCG8 | c.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 | |
2 | g.43877632A>G | CA346670901 | ABCG8 | c.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 | |
2 | g.43877632A>T | CA346670902 | ABCG8 | c.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 | |
2 | g.43877636_43877638dup | CA2493965043 | ABCG8 | c.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 |
2 | g.43877636_43877638del | CA1637675 | ABCG8 | c.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 |
2 | g.43877633G>A | CA346670903 | ABCG8 | c.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 |
2 | g.43877633G>C | CA346670904 | ABCG8 | c.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 | |
2 | g.43877633G= | CA2493965044 | ABCG8 | c.1829G= (p.Arg610=) c.1826G= (p.Arg609=) c.1841G= (p.Arg614=) c.1838G= (p.Arg613=) c.1613G= (p.Arg538=) n.2331G= n.2345G= | |
2 | g.43877633G>T | CA346670905 | ABCG8 | c.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 | |
2 | g.43877634A= | CA2493965045 | ABCG8 | c.1830A= (p.Arg610=) c.1827A= (p.Arg609=) c.1842A= (p.Arg614=) c.1839A= (p.Arg613=) c.1614A= (p.Arg538=) n.2332A= n.2346A= | |
2 | g.43877634A>C | CA346670906 | ABCG8 | c.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 |
2 | g.43877634A>G | CA425908215 | ABCG8 | c.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 | |
2 | g.43877634A>T | CA346670907 | ABCG8 | c.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 |
2 | g.43877635A>C | CA425908216 | ABCG8 | c.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 | |
2 | g.43877635A>G | CA346670908 | ABCG8 | c.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 | |
2 | g.43877635A>T | CA346670909 | ABCG8 | c.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 | |
2 | g.43877636G>A | CA346670911 | ABCG8 | c.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 |
2 | g.43877636G>C | CA46474244 | ABCG8 | c.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 |
2 | g.43877636G= | CA2493965046 | ABCG8 | c.1832G= (p.Arg611=) c.1829G= (p.Arg610=) c.1844G= (p.Arg615=) c.1841G= (p.Arg614=) c.1616G= (p.Arg539=) n.2334G= n.2348G= | |
2 | g.43877636G>T | CA346670910 | ABCG8 | c.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 |