Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104798378C= | CA1869929762 | ABCA1 | c.5121+43G= (n.5121+43G=) c.5127+43G= (n.5127+43G=) c.4947+43G= (n.4947+43G=) c.5202+43G= (n.5202+43G=) c.5196+43G= (n.5196+43G=) c.4764+43G= (n.4764+43G=) c.5064+43G= (n.5064+43G=) n.5515+43G= | |
9 | g.104798378C>G | CA1869929764 | ABCA1 | c.5121+43G>C (n.5121+43G>C) c.5127+43G>C (n.5127+43G>C) c.4947+43G>C (n.4947+43G>C) c.5202+43G>C (n.5202+43G>C) c.5196+43G>C (n.5196+43G>C) c.4764+43G>C (n.4764+43G>C) c.5064+43G>C (n.5064+43G>C) n.5515+43G>C | dbSNP gnomAD v4 |
9 | g.104798380C>A | CA2691050486 | ABCA1 | c.5121+41G>T (n.5121+41G>T) c.5127+41G>T (n.5127+41G>T) c.4947+41G>T (n.4947+41G>T) c.5202+41G>T (n.5202+41G>T) c.5196+41G>T (n.5196+41G>T) c.4764+41G>T (n.4764+41G>T) c.5064+41G>T (n.5064+41G>T) n.5515+41G>T | gnomAD v4 |
9 | g.104798381T>G | CA5167936 | ABCA1 | c.5121+40A>C (n.5121+40A>C) c.5127+40A>C (n.5127+40A>C) c.4947+40A>C (n.4947+40A>C) c.5202+40A>C (n.5202+40A>C) c.5196+40A>C (n.5196+40A>C) c.4764+40A>C (n.4764+40A>C) c.5064+40A>C (n.5064+40A>C) n.5515+40A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798381T= | CA1869929768 | ABCA1 | c.5121+40A= (n.5121+40A=) c.5127+40A= (n.5127+40A=) c.4947+40A= (n.4947+40A=) c.5202+40A= (n.5202+40A=) c.5196+40A= (n.5196+40A=) c.4764+40A= (n.4764+40A=) c.5064+40A= (n.5064+40A=) n.5515+40A= | |
9 | g.104798382G>A | CA590046407 | ABCA1 | c.5121+39C>T (n.5121+39C>T) c.5127+39C>T (n.5127+39C>T) c.4947+39C>T (n.4947+39C>T) c.5202+39C>T (n.5202+39C>T) c.5196+39C>T (n.5196+39C>T) c.4764+39C>T (n.4764+39C>T) c.5064+39C>T (n.5064+39C>T) n.5515+39C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798382G= | CA1869929773 | ABCA1 | c.5121+39C= (n.5121+39C=) c.5127+39C= (n.5127+39C=) c.4947+39C= (n.4947+39C=) c.5202+39C= (n.5202+39C=) c.5196+39C= (n.5196+39C=) c.4764+39C= (n.4764+39C=) c.5064+39C= (n.5064+39C=) n.5515+39C= | |
9 | g.104798382G>T | CA2691050487 | ABCA1 | c.5121+39C>A (n.5121+39C>A) c.5127+39C>A (n.5127+39C>A) c.4947+39C>A (n.4947+39C>A) c.5202+39C>A (n.5202+39C>A) c.5196+39C>A (n.5196+39C>A) c.4764+39C>A (n.4764+39C>A) c.5064+39C>A (n.5064+39C>A) n.5515+39C>A | gnomAD v4 |
9 | g.104798384C= | CA1869929775 | ABCA1 | c.5121+37G= (n.5121+37G=) c.5127+37G= (n.5127+37G=) c.4947+37G= (n.4947+37G=) c.5202+37G= (n.5202+37G=) c.5196+37G= (n.5196+37G=) c.4764+37G= (n.4764+37G=) c.5064+37G= (n.5064+37G=) n.5515+37G= | |
9 | g.104798384C>T | CA1127650557 | ABCA1 | c.5121+37G>A (n.5121+37G>A) c.5127+37G>A (n.5127+37G>A) c.4947+37G>A (n.4947+37G>A) c.5202+37G>A (n.5202+37G>A) c.5196+37G>A (n.5196+37G>A) c.4764+37G>A (n.4764+37G>A) c.5064+37G>A (n.5064+37G>A) n.5515+37G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104798385A>C | CA2579406184 | ABCA1 | c.5121+36T>G (n.5121+36T>G) c.5127+36T>G (n.5127+36T>G) c.4947+36T>G (n.4947+36T>G) c.5202+36T>G (n.5202+36T>G) c.5196+36T>G (n.5196+36T>G) c.4764+36T>G (n.4764+36T>G) c.5064+36T>G (n.5064+36T>G) n.5515+36T>G | gnomAD v4 |
9 | g.104798385dup | CA590046408 | ABCA1 | c.5121+36dup (n.5121+36dup) c.5127+36dup (n.5127+36dup) c.4947+36dup (n.4947+36dup) c.5202+36dup (n.5202+36dup) c.5196+36dup (n.5196+36dup) c.4764+36dup (n.4764+36dup) c.5064+36dup (n.5064+36dup) n.5515+36dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798386G>A | CA1869929779 | ABCA1 | c.5121+35C>T (n.5121+35C>T) c.5127+35C>T (n.5127+35C>T) c.4947+35C>T (n.4947+35C>T) c.5202+35C>T (n.5202+35C>T) c.5196+35C>T (n.5196+35C>T) c.4764+35C>T (n.4764+35C>T) c.5064+35C>T (n.5064+35C>T) n.5515+35C>T | dbSNP |
9 | g.104798386G>C | CA2691050488 | ABCA1 | c.5121+35C>G (n.5121+35C>G) c.5127+35C>G (n.5127+35C>G) c.4947+35C>G (n.4947+35C>G) c.5202+35C>G (n.5202+35C>G) c.5196+35C>G (n.5196+35C>G) c.4764+35C>G (n.4764+35C>G) c.5064+35C>G (n.5064+35C>G) n.5515+35C>G | gnomAD v4 |
9 | g.104798386G= | CA1869929777 | ABCA1 | c.5121+35C= (n.5121+35C=) c.5127+35C= (n.5127+35C=) c.4947+35C= (n.4947+35C=) c.5202+35C= (n.5202+35C=) c.5196+35C= (n.5196+35C=) c.4764+35C= (n.4764+35C=) c.5064+35C= (n.5064+35C=) n.5515+35C= | |
9 | g.104798388C>T | CA2691050489 | ABCA1 | c.5121+33G>A (n.5121+33G>A) c.5127+33G>A (n.5127+33G>A) c.4947+33G>A (n.4947+33G>A) c.5202+33G>A (n.5202+33G>A) c.5196+33G>A (n.5196+33G>A) c.4764+33G>A (n.4764+33G>A) c.5064+33G>A (n.5064+33G>A) n.5515+33G>A | gnomAD v4 |
9 | g.104798389A= | CA1869929783 | ABCA1 | c.5121+32T= (n.5121+32T=) c.5127+32T= (n.5127+32T=) c.4947+32T= (n.4947+32T=) c.5202+32T= (n.5202+32T=) c.5196+32T= (n.5196+32T=) c.4764+32T= (n.4764+32T=) c.5064+32T= (n.5064+32T=) n.5515+32T= | |
9 | g.104798389A>G | CA5167937 | ABCA1 | c.5121+32T>C (n.5121+32T>C) c.5127+32T>C (n.5127+32T>C) c.4947+32T>C (n.4947+32T>C) c.5202+32T>C (n.5202+32T>C) c.5196+32T>C (n.5196+32T>C) c.4764+32T>C (n.4764+32T>C) c.5064+32T>C (n.5064+32T>C) n.5515+32T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798390T>A | CA5167938 | ABCA1 | c.5121+31A>T (n.5121+31A>T) c.5127+31A>T (n.5127+31A>T) c.4947+31A>T (n.4947+31A>T) c.5202+31A>T (n.5202+31A>T) c.5196+31A>T (n.5196+31A>T) c.4764+31A>T (n.4764+31A>T) c.5064+31A>T (n.5064+31A>T) n.5515+31A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798390T= | CA1869929786 | ABCA1 | c.5121+31A= (n.5121+31A=) c.5127+31A= (n.5127+31A=) c.4947+31A= (n.4947+31A=) c.5202+31A= (n.5202+31A=) c.5196+31A= (n.5196+31A=) c.4764+31A= (n.4764+31A=) c.5064+31A= (n.5064+31A=) n.5515+31A= | |
9 | g.104798391_104798394del | CA2691050490 | ABCA1 | c.5121+27_5121+30del (n.5121+27_5121+30del) c.5127+27_5127+30del (n.5127+27_5127+30del) c.4947+27_4947+30del (n.4947+27_4947+30del) c.5202+27_5202+30del (n.5202+27_5202+30del) c.5196+27_5196+30del (n.5196+27_5196+30del) c.4764+27_4764+30del (n.4764+27_4764+30del) c.5064+27_5064+30del (n.5064+27_5064+30del) n.5515+27_5515+30del | gnomAD v4 |
9 | g.104798392A= | CA1869929788 | ABCA1 | c.5121+29T= (n.5121+29T=) c.5127+29T= (n.5127+29T=) c.4947+29T= (n.4947+29T=) c.5202+29T= (n.5202+29T=) c.5196+29T= (n.5196+29T=) c.4764+29T= (n.4764+29T=) c.5064+29T= (n.5064+29T=) n.5515+29T= | |
9 | g.104798392A>C | CA2691050491 | ABCA1 | c.5121+29T>G (n.5121+29T>G) c.5127+29T>G (n.5127+29T>G) c.4947+29T>G (n.4947+29T>G) c.5202+29T>G (n.5202+29T>G) c.5196+29T>G (n.5196+29T>G) c.4764+29T>G (n.4764+29T>G) c.5064+29T>G (n.5064+29T>G) n.5515+29T>G | gnomAD v4 |
9 | g.104798392A>G | CA590046409 | ABCA1 | c.5121+29T>C (n.5121+29T>C) c.5127+29T>C (n.5127+29T>C) c.4947+29T>C (n.4947+29T>C) c.5202+29T>C (n.5202+29T>C) c.5196+29T>C (n.5196+29T>C) c.4764+29T>C (n.4764+29T>C) c.5064+29T>C (n.5064+29T>C) n.5515+29T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798394A= | CA1869929791 | ABCA1 | c.5121+27T= (n.5121+27T=) c.5127+27T= (n.5127+27T=) c.4947+27T= (n.4947+27T=) c.5202+27T= (n.5202+27T=) c.5196+27T= (n.5196+27T=) c.4764+27T= (n.4764+27T=) c.5064+27T= (n.5064+27T=) n.5515+27T= | |
9 | g.104798394A>G | CA858076585 | ABCA1 | c.5121+27T>C (n.5121+27T>C) c.5127+27T>C (n.5127+27T>C) c.4947+27T>C (n.4947+27T>C) c.5202+27T>C (n.5202+27T>C) c.5196+27T>C (n.5196+27T>C) c.4764+27T>C (n.4764+27T>C) c.5064+27T>C (n.5064+27T>C) n.5515+27T>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104798397G>C | CA197361752 | ABCA1 | c.5121+24C>G (n.5121+24C>G) c.5127+24C>G (n.5127+24C>G) c.4947+24C>G (n.4947+24C>G) c.5202+24C>G (n.5202+24C>G) c.5196+24C>G (n.5196+24C>G) c.4764+24C>G (n.4764+24C>G) c.5064+24C>G (n.5064+24C>G) n.5515+24C>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104798397G= | CA1869929800 | ABCA1 | c.5121+24C= (n.5121+24C=) c.5127+24C= (n.5127+24C=) c.4947+24C= (n.4947+24C=) c.5202+24C= (n.5202+24C=) c.5196+24C= (n.5196+24C=) c.4764+24C= (n.4764+24C=) c.5064+24C= (n.5064+24C=) n.5515+24C= | |
9 | g.104798401C= | CA1869929808 | ABCA1 | c.5121+20G= (n.5121+20G=) c.5127+20G= (n.5127+20G=) c.4947+20G= (n.4947+20G=) c.5202+20G= (n.5202+20G=) c.5196+20G= (n.5196+20G=) c.4764+20G= (n.4764+20G=) c.5064+20G= (n.5064+20G=) n.5515+20G= | |
9 | g.104798401C>T | CA5167939 | ABCA1 | c.5121+20G>A (n.5121+20G>A) c.5127+20G>A (n.5127+20G>A) c.4947+20G>A (n.4947+20G>A) c.5202+20G>A (n.5202+20G>A) c.5196+20G>A (n.5196+20G>A) c.4764+20G>A (n.4764+20G>A) c.5064+20G>A (n.5064+20G>A) n.5515+20G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798403G= | CA1869929812 | ABCA1 | c.5121+18C= (n.5121+18C=) c.5127+18C= (n.5127+18C=) c.4947+18C= (n.4947+18C=) c.5202+18C= (n.5202+18C=) c.5196+18C= (n.5196+18C=) c.4764+18C= (n.4764+18C=) c.5064+18C= (n.5064+18C=) n.5515+18C= | |
9 | g.104798403G>T | CA197361762 | ABCA1 | c.5121+18C>A (n.5121+18C>A) c.5127+18C>A (n.5127+18C>A) c.4947+18C>A (n.4947+18C>A) c.5202+18C>A (n.5202+18C>A) c.5196+18C>A (n.5196+18C>A) c.4764+18C>A (n.4764+18C>A) c.5064+18C>A (n.5064+18C>A) n.5515+18C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104798404C= | CA1869929814 | ABCA1 | c.5121+17G= (n.5121+17G=) c.5127+17G= (n.5127+17G=) c.4947+17G= (n.4947+17G=) c.5202+17G= (n.5202+17G=) c.5196+17G= (n.5196+17G=) c.4764+17G= (n.4764+17G=) c.5064+17G= (n.5064+17G=) n.5515+17G= | |
9 | g.104798404C>T | CA5167940 | ABCA1 | c.5121+17G>A (n.5121+17G>A) c.5127+17G>A (n.5127+17G>A) c.4947+17G>A (n.4947+17G>A) c.5202+17G>A (n.5202+17G>A) c.5196+17G>A (n.5196+17G>A) c.4764+17G>A (n.4764+17G>A) c.5064+17G>A (n.5064+17G>A) n.5515+17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798406G>A | CA2691050492 | ABCA1 | c.5121+15C>T (n.5121+15C>T) c.5127+15C>T (n.5127+15C>T) c.4947+15C>T (n.4947+15C>T) c.5202+15C>T (n.5202+15C>T) c.5196+15C>T (n.5196+15C>T) c.4764+15C>T (n.4764+15C>T) c.5064+15C>T (n.5064+15C>T) n.5515+15C>T | gnomAD v4 |
9 | g.104798406G= | CA1869929816 | ABCA1 | c.5121+15C= (n.5121+15C=) c.5127+15C= (n.5127+15C=) c.4947+15C= (n.4947+15C=) c.5202+15C= (n.5202+15C=) c.5196+15C= (n.5196+15C=) c.4764+15C= (n.4764+15C=) c.5064+15C= (n.5064+15C=) n.5515+15C= | |
9 | g.104798406G>T | CA1869929817 | ABCA1 | c.5121+15C>A (n.5121+15C>A) c.5127+15C>A (n.5127+15C>A) c.4947+15C>A (n.4947+15C>A) c.5202+15C>A (n.5202+15C>A) c.5196+15C>A (n.5196+15C>A) c.4764+15C>A (n.4764+15C>A) c.5064+15C>A (n.5064+15C>A) n.5515+15C>A | dbSNP |
9 | g.104798407G>A | CA858076587 | ABCA1 | c.5121+14C>T (n.5121+14C>T) c.5127+14C>T (n.5127+14C>T) c.4947+14C>T (n.4947+14C>T) c.5202+14C>T (n.5202+14C>T) c.5196+14C>T (n.5196+14C>T) c.4764+14C>T (n.4764+14C>T) c.5064+14C>T (n.5064+14C>T) n.5515+14C>T | ClinVar dbSNP |
9 | g.104798407G= | CA1869929820 | ABCA1 | c.5121+14C= (n.5121+14C=) c.5127+14C= (n.5127+14C=) c.4947+14C= (n.4947+14C=) c.5202+14C= (n.5202+14C=) c.5196+14C= (n.5196+14C=) c.4764+14C= (n.4764+14C=) c.5064+14C= (n.5064+14C=) n.5515+14C= | |
9 | g.104798408C>T | CA2691050493 | ABCA1 | c.5121+13G>A (n.5121+13G>A) c.5127+13G>A (n.5127+13G>A) c.4947+13G>A (n.4947+13G>A) c.5202+13G>A (n.5202+13G>A) c.5196+13G>A (n.5196+13G>A) c.4764+13G>A (n.4764+13G>A) c.5064+13G>A (n.5064+13G>A) n.5515+13G>A | gnomAD v4 |
9 | g.104798409C= | CA1869929824 | ABCA1 | c.5121+12G= (n.5121+12G=) c.5127+12G= (n.5127+12G=) c.4947+12G= (n.4947+12G=) c.5202+12G= (n.5202+12G=) c.5196+12G= (n.5196+12G=) c.4764+12G= (n.4764+12G=) c.5064+12G= (n.5064+12G=) n.5515+12G= | |
9 | g.104798409C>T | CA1869929825 | ABCA1 | c.5121+12G>A (n.5121+12G>A) c.5127+12G>A (n.5127+12G>A) c.4947+12G>A (n.4947+12G>A) c.5202+12G>A (n.5202+12G>A) c.5196+12G>A (n.5196+12G>A) c.4764+12G>A (n.4764+12G>A) c.5064+12G>A (n.5064+12G>A) n.5515+12G>A | dbSNP |
9 | g.104798410T>A | CA2691050494 | ABCA1 | c.5121+11A>T (n.5121+11A>T) c.5127+11A>T (n.5127+11A>T) c.4947+11A>T (n.4947+11A>T) c.5202+11A>T (n.5202+11A>T) c.5196+11A>T (n.5196+11A>T) c.4764+11A>T (n.4764+11A>T) c.5064+11A>T (n.5064+11A>T) n.5515+11A>T | gnomAD v4 |
9 | g.104798413_104798414del | CA2579406190 | ABCA1 | c.5121+10_5121+11del (n.5121+10_5121+11del) c.5127+10_5127+11del (n.5127+10_5127+11del) c.4947+10_4947+11del (n.4947+10_4947+11del) c.5202+10_5202+11del (n.5202+10_5202+11del) c.5196+10_5196+11del (n.5196+10_5196+11del) c.4764+10_4764+11del (n.4764+10_4764+11del) c.5064+10_5064+11del (n.5064+10_5064+11del) n.5515+10_5515+11del | |
9 | g.104798411G>A | CA197361763 | ABCA1 | c.5121+10C>T (n.5121+10C>T) c.5127+10C>T (n.5127+10C>T) c.4947+10C>T (n.4947+10C>T) c.5202+10C>T (n.5202+10C>T) c.5196+10C>T (n.5196+10C>T) c.4764+10C>T (n.4764+10C>T) c.5064+10C>T (n.5064+10C>T) n.5515+10C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798411G= | CA1869929827 | ABCA1 | c.5121+10C= (n.5121+10C=) c.5127+10C= (n.5127+10C=) c.4947+10C= (n.4947+10C=) c.5202+10C= (n.5202+10C=) c.5196+10C= (n.5196+10C=) c.4764+10C= (n.4764+10C=) c.5064+10C= (n.5064+10C=) n.5515+10C= | |
9 | g.104798413G>A | CA2691050495 | ABCA1 | c.5121+8C>T (n.5121+8C>T) c.5127+8C>T (n.5127+8C>T) c.4947+8C>T (n.4947+8C>T) c.5202+8C>T (n.5202+8C>T) c.5196+8C>T (n.5196+8C>T) c.4764+8C>T (n.4764+8C>T) c.5064+8C>T (n.5064+8C>T) n.5515+8C>T | gnomAD v4 |
9 | g.104798414T>C | CA2579406194 | ABCA1 | c.5121+7A>G (n.5121+7A>G) c.5127+7A>G (n.5127+7A>G) c.4947+7A>G (n.4947+7A>G) c.5202+7A>G (n.5202+7A>G) c.5196+7A>G (n.5196+7A>G) c.4764+7A>G (n.4764+7A>G) c.5064+7A>G (n.5064+7A>G) n.5515+7A>G | gnomAD v4 |
9 | g.104798416C>G | CA2691050496 | ABCA1 | c.5121+5G>C (n.5121+5G>C) c.5127+5G>C (n.5127+5G>C) c.4947+5G>C (n.4947+5G>C) c.5202+5G>C (n.5202+5G>C) c.5196+5G>C (n.5196+5G>C) c.4764+5G>C (n.4764+5G>C) c.5064+5G>C (n.5064+5G>C) n.5515+5G>C | gnomAD v4 |
9 | g.104798416C>T | CA2691050497 | ABCA1 | c.5121+5G>A (n.5121+5G>A) c.5127+5G>A (n.5127+5G>A) c.4947+5G>A (n.4947+5G>A) c.5202+5G>A (n.5202+5G>A) c.5196+5G>A (n.5196+5G>A) c.4764+5G>A (n.4764+5G>A) c.5064+5G>A (n.5064+5G>A) n.5515+5G>A | gnomAD v4 |
9 | g.104798417T>C | CA1869929829 | ABCA1 | c.5121+4A>G (n.5121+4A>G) c.5127+4A>G (n.5127+4A>G) c.4947+4A>G (n.4947+4A>G) c.5202+4A>G (n.5202+4A>G) c.5196+4A>G (n.5196+4A>G) c.4764+4A>G (n.4764+4A>G) c.5064+4A>G (n.5064+4A>G) n.5515+4A>G | dbSNP |
9 | g.104798417T= | CA1869929828 | ABCA1 | c.5121+4A= (n.5121+4A=) c.5127+4A= (n.5127+4A=) c.4947+4A= (n.4947+4A=) c.5202+4A= (n.5202+4A=) c.5196+4A= (n.5196+4A=) c.4764+4A= (n.4764+4A=) c.5064+4A= (n.5064+4A=) n.5515+4A= | |
9 | g.104798419A>C | CA374313897 | ABCA1 | c.5121+2T>G (n.5121+2T>G) c.5127+2T>G (n.5127+2T>G) c.4947+2T>G (n.4947+2T>G) c.5202+2T>G (n.5202+2T>G) c.5196+2T>G (n.5196+2T>G) c.4764+2T>G (n.4764+2T>G) c.5064+2T>G (n.5064+2T>G) n.5515+2T>G | |
9 | g.104798419A>G | CA374313898 | ABCA1 | c.5121+2T>C (n.5121+2T>C) c.5127+2T>C (n.5127+2T>C) c.4947+2T>C (n.4947+2T>C) c.5202+2T>C (n.5202+2T>C) c.5196+2T>C (n.5196+2T>C) c.4764+2T>C (n.4764+2T>C) c.5064+2T>C (n.5064+2T>C) n.5515+2T>C | COSMIC |
9 | g.104798419A>T | CA374313899 | ABCA1 | c.5121+2T>A (n.5121+2T>A) c.5127+2T>A (n.5127+2T>A) c.4947+2T>A (n.4947+2T>A) c.5202+2T>A (n.5202+2T>A) c.5196+2T>A (n.5196+2T>A) c.4764+2T>A (n.4764+2T>A) c.5064+2T>A (n.5064+2T>A) n.5515+2T>A | |
9 | g.104798420C>A | CA197361766 | ABCA1 | c.5121+1G>T (n.5121+1G>T) c.5127+1G>T (n.5127+1G>T) c.4947+1G>T (n.4947+1G>T) c.5202+1G>T (n.5202+1G>T) c.5196+1G>T (n.5196+1G>T) c.4764+1G>T (n.4764+1G>T) c.5064+1G>T (n.5064+1G>T) n.5515+1G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798420C= | CA1869915707 | ABCA1 | c.5121+1G= (n.5121+1G=) c.5127+1G= (n.5127+1G=) c.4947+1G= (n.4947+1G=) c.5202+1G= (n.5202+1G=) c.5196+1G= (n.5196+1G=) c.4764+1G= (n.4764+1G=) c.5064+1G= (n.5064+1G=) n.5515+1G= | |
9 | g.104798420C>G | CA374313900 | ABCA1 | c.5121+1G>C (n.5121+1G>C) c.5127+1G>C (n.5127+1G>C) c.4947+1G>C (n.4947+1G>C) c.5202+1G>C (n.5202+1G>C) c.5196+1G>C (n.5196+1G>C) c.4764+1G>C (n.4764+1G>C) c.5064+1G>C (n.5064+1G>C) n.5515+1G>C | |
9 | g.104798420C>T | CA374313901 | ABCA1 | c.5121+1G>A (n.5121+1G>A) c.5127+1G>A (n.5127+1G>A) c.4947+1G>A (n.4947+1G>A) c.5202+1G>A (n.5202+1G>A) c.5196+1G>A (n.5196+1G>A) c.4764+1G>A (n.4764+1G>A) c.5064+1G>A (n.5064+1G>A) n.5515+1G>A | |
9 | g.104798421C>A | CA374313902 | ABCA1 | c.5121G>T (p.Met1707Ile) c.5127G>T (p.Met1709Ile) c.4947G>T (p.Met1649Ile) c.5202G>T (p.Met1734Ile) c.5196G>T (p.Met1732Ile) c.4764G>T (p.Met1588Ile) c.5064G>T (p.Met1688Ile) n.5515G>T | COSMIC |
9 | g.104798421C>G | CA374313903 | ABCA1 | c.5121G>C (p.Met1707Ile) c.5127G>C (p.Met1709Ile) c.4947G>C (p.Met1649Ile) c.5202G>C (p.Met1734Ile) c.5196G>C (p.Met1732Ile) c.4764G>C (p.Met1588Ile) c.5064G>C (p.Met1688Ile) n.5515G>C | |
9 | g.104798421C>T | CA374313904 | ABCA1 | c.5121G>A (p.Met1707Ile) c.5127G>A (p.Met1709Ile) c.4947G>A (p.Met1649Ile) c.5202G>A (p.Met1734Ile) c.5196G>A (p.Met1732Ile) c.4764G>A (p.Met1588Ile) c.5064G>A (p.Met1688Ile) n.5515G>A | gnomAD v4 |
9 | g.104798422A>C | CA374313905 | ABCA1 | c.5120T>G (p.Met1707Arg) c.5126T>G (p.Met1709Arg) c.4946T>G (p.Met1649Arg) c.5201T>G (p.Met1734Arg) c.5195T>G (p.Met1732Arg) c.4763T>G (p.Met1588Arg) c.5063T>G (p.Met1688Arg) n.5514T>G | |
9 | g.104798422A>G | CA374313906 | ABCA1 | c.5120T>C (p.Met1707Thr) c.5126T>C (p.Met1709Thr) c.4946T>C (p.Met1649Thr) c.5201T>C (p.Met1734Thr) c.5195T>C (p.Met1732Thr) c.4763T>C (p.Met1588Thr) c.5063T>C (p.Met1688Thr) n.5514T>C | |
9 | g.104798422A>T | CA374313907 | ABCA1 | c.5120T>A (p.Met1707Lys) c.5126T>A (p.Met1709Lys) c.4946T>A (p.Met1649Lys) c.5201T>A (p.Met1734Lys) c.5195T>A (p.Met1732Lys) c.4763T>A (p.Met1588Lys) c.5063T>A (p.Met1688Lys) n.5514T>A | |
9 | g.104798423T>A | CA374313908 | ABCA1 | c.5119A>T (p.Met1707Leu) c.5125A>T (p.Met1709Leu) c.4945A>T (p.Met1649Leu) c.5200A>T (p.Met1734Leu) c.5194A>T (p.Met1732Leu) c.4762A>T (p.Met1588Leu) c.5062A>T (p.Met1688Leu) n.5513A>T | |
9 | g.104798423T>C | CA5167941 | ABCA1 | c.5119A>G (p.Met1707Val) c.5125A>G (p.Met1709Val) c.4945A>G (p.Met1649Val) c.5200A>G (p.Met1734Val) c.5194A>G (p.Met1732Val) c.4762A>G (p.Met1588Val) c.5062A>G (p.Met1688Val) n.5513A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798423T>G | CA374313909 | ABCA1 | c.5119A>C (p.Met1707Leu) c.5125A>C (p.Met1709Leu) c.4945A>C (p.Met1649Leu) c.5200A>C (p.Met1734Leu) c.5194A>C (p.Met1732Leu) c.4762A>C (p.Met1588Leu) c.5062A>C (p.Met1688Leu) n.5513A>C | |
9 | g.104798423T= | CA1869915718 | ABCA1 | c.5119A= (p.Met1707=) c.5125A= (p.Met1709=) c.4945A= (p.Met1649=) c.5200A= (p.Met1734=) c.5194A= (p.Met1732=) c.4762A= (p.Met1588=) c.5062A= (p.Met1688=) n.5513A= | |
9 | g.104798424A>C | CA374313910 | ABCA1 | c.5118T>G (p.Asp1706Glu) c.5124T>G (p.Asp1708Glu) c.4944T>G (p.Asp1648Glu) c.5199T>G (p.Asp1733Glu) c.5193T>G (p.Asp1731Glu) c.4761T>G (p.Asp1587Glu) c.5061T>G (p.Asp1687Glu) n.5512T>G | |
9 | g.104798424A>G | CA466503088 | ABCA1 | c.5118T>C (p.Asp1706=) c.5124T>C (p.Asp1708=) c.4944T>C (p.Asp1648=) c.5199T>C (p.Asp1733=) c.5193T>C (p.Asp1731=) c.4761T>C (p.Asp1587=) c.5061T>C (p.Asp1687=) n.5512T>C | |
9 | g.104798424A>T | CA374313911 | ABCA1 | c.5118T>A (p.Asp1706Glu) c.5124T>A (p.Asp1708Glu) c.4944T>A (p.Asp1648Glu) c.5199T>A (p.Asp1733Glu) c.5193T>A (p.Asp1731Glu) c.4761T>A (p.Asp1587Glu) c.5061T>A (p.Asp1687Glu) n.5512T>A | |
9 | g.104798425T>A | CA374313912 | ABCA1 | c.5117A>T (p.Asp1706Val) c.5123A>T (p.Asp1708Val) c.4943A>T (p.Asp1648Val) c.5198A>T (p.Asp1733Val) c.5192A>T (p.Asp1731Val) c.4760A>T (p.Asp1587Val) c.5060A>T (p.Asp1687Val) n.5511A>T | |
9 | g.104798425T>C | CA374313913 | ABCA1 | c.5117A>G (p.Asp1706Gly) c.5123A>G (p.Asp1708Gly) c.4943A>G (p.Asp1648Gly) c.5198A>G (p.Asp1733Gly) c.5192A>G (p.Asp1731Gly) c.4760A>G (p.Asp1587Gly) c.5060A>G (p.Asp1687Gly) n.5511A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104798425T>G | CA374313914 | ABCA1 | c.5117A>C (p.Asp1706Ala) c.5123A>C (p.Asp1708Ala) c.4943A>C (p.Asp1648Ala) c.5198A>C (p.Asp1733Ala) c.5192A>C (p.Asp1731Ala) c.4760A>C (p.Asp1587Ala) c.5060A>C (p.Asp1687Ala) n.5511A>C | gnomAD v4 |
9 | g.104798425T= | CA1869915722 | ABCA1 | c.5117A= (p.Asp1706=) c.5123A= (p.Asp1708=) c.4943A= (p.Asp1648=) c.5198A= (p.Asp1733=) c.5192A= (p.Asp1731=) c.4760A= (p.Asp1587=) c.5060A= (p.Asp1687=) n.5511A= | |
9 | g.104798426C>A | CA374313915 | ABCA1 | c.5116G>T (p.Asp1706Tyr) c.5122G>T (p.Asp1708Tyr) c.4942G>T (p.Asp1648Tyr) c.5197G>T (p.Asp1733Tyr) c.5191G>T (p.Asp1731Tyr) c.4759G>T (p.Asp1587Tyr) c.5059G>T (p.Asp1687Tyr) n.5510G>T | |
9 | g.104798426C>G | CA374313916 | ABCA1 | c.5116G>C (p.Asp1706His) c.5122G>C (p.Asp1708His) c.4942G>C (p.Asp1648His) c.5197G>C (p.Asp1733His) c.5191G>C (p.Asp1731His) c.4759G>C (p.Asp1587His) c.5059G>C (p.Asp1687His) n.5510G>C | |
9 | g.104798426C>T | CA374313917 | ABCA1 | c.5116G>A (p.Asp1706Asn) c.5122G>A (p.Asp1708Asn) c.4942G>A (p.Asp1648Asn) c.5197G>A (p.Asp1733Asn) c.5191G>A (p.Asp1731Asn) c.4759G>A (p.Asp1587Asn) c.5059G>A (p.Asp1687Asn) n.5510G>A | |
9 | g.104798427_104798428del | CA2785407105 | ABCA1 | c.5115_5116del (p.Trp1705Ter) c.5121_5122del (p.Trp1707Ter) c.4941_4942del (p.Trp1647Ter) c.5196_5197del (p.Trp1732Ter) c.5190_5191del (p.Trp1730Ter) c.4758_4759del (p.Trp1586Ter) c.5058_5059del (p.Trp1686Ter) n.5509_5510del | |
9 | g.104798427C>A | CA374313918 | ABCA1 | c.5115G>T (p.Trp1705Cys) c.5121G>T (p.Trp1707Cys) c.4941G>T (p.Trp1647Cys) c.5196G>T (p.Trp1732Cys) c.5190G>T (p.Trp1730Cys) c.4758G>T (p.Trp1586Cys) c.5058G>T (p.Trp1686Cys) n.5509G>T | |
9 | g.104798427C>G | CA374313919 | ABCA1 | c.5115G>C (p.Trp1705Cys) c.5121G>C (p.Trp1707Cys) c.4941G>C (p.Trp1647Cys) c.5196G>C (p.Trp1732Cys) c.5190G>C (p.Trp1730Cys) c.4758G>C (p.Trp1586Cys) c.5058G>C (p.Trp1686Cys) n.5509G>C | |
9 | g.104798427C>T | CA374313920 | ABCA1 | c.5115G>A (p.Trp1705Ter) c.5121G>A (p.Trp1707Ter) c.4941G>A (p.Trp1647Ter) c.5196G>A (p.Trp1732Ter) c.5190G>A (p.Trp1730Ter) c.4758G>A (p.Trp1586Ter) c.5058G>A (p.Trp1686Ter) n.5509G>A | |
9 | g.104798428C>A | CA374313923 | ABCA1 | c.5114G>T (p.Trp1705Leu) c.5120G>T (p.Trp1707Leu) c.4940G>T (p.Trp1647Leu) c.5195G>T (p.Trp1732Leu) c.5189G>T (p.Trp1730Leu) c.4757G>T (p.Trp1586Leu) c.5057G>T (p.Trp1686Leu) n.5508G>T | |
9 | g.104798428C>G | CA374313922 | ABCA1 | c.5114G>C (p.Trp1705Ser) c.5120G>C (p.Trp1707Ser) c.4940G>C (p.Trp1647Ser) c.5195G>C (p.Trp1732Ser) c.5189G>C (p.Trp1730Ser) c.4757G>C (p.Trp1586Ser) c.5057G>C (p.Trp1686Ser) n.5508G>C | |
9 | g.104798428C>T | CA374313921 | ABCA1 | c.5114G>A (p.Trp1705Ter) c.5120G>A (p.Trp1707Ter) c.4940G>A (p.Trp1647Ter) c.5195G>A (p.Trp1732Ter) c.5189G>A (p.Trp1730Ter) c.4757G>A (p.Trp1586Ter) c.5057G>A (p.Trp1686Ter) n.5508G>A | |
9 | g.104798429A= | CA1869915725 | ABCA1 | c.5113T= (p.Trp1705=) c.5119T= (p.Trp1707=) c.4939T= (p.Trp1647=) c.5194T= (p.Trp1732=) c.5188T= (p.Trp1730=) c.4756T= (p.Trp1586=) c.5056T= (p.Trp1686=) n.5507T= | |
9 | g.104798429A>C | CA374313924 | ABCA1 | c.5113T>G (p.Trp1705Gly) c.5119T>G (p.Trp1707Gly) c.4939T>G (p.Trp1647Gly) c.5194T>G (p.Trp1732Gly) c.5188T>G (p.Trp1730Gly) c.4756T>G (p.Trp1586Gly) c.5056T>G (p.Trp1686Gly) n.5507T>G | |
9 | g.104798429A>G | CA374313925 | ABCA1 | c.5113T>C (p.Trp1705Arg) c.5119T>C (p.Trp1707Arg) c.4939T>C (p.Trp1647Arg) c.5194T>C (p.Trp1732Arg) c.5188T>C (p.Trp1730Arg) c.4756T>C (p.Trp1586Arg) c.5056T>C (p.Trp1686Arg) n.5507T>C | |
9 | g.104798429A>T | CA374313926 | ABCA1 | c.5113T>A (p.Trp1705Arg) c.5119T>A (p.Trp1707Arg) c.4939T>A (p.Trp1647Arg) c.5194T>A (p.Trp1732Arg) c.5188T>A (p.Trp1730Arg) c.4756T>A (p.Trp1586Arg) c.5056T>A (p.Trp1686Arg) n.5507T>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798430G>A | CA466503089 | ABCA1 | c.5112C>T (p.Val1704=) c.5118C>T (p.Val1706=) c.4938C>T (p.Val1646=) c.5193C>T (p.Val1731=) c.5187C>T (p.Val1729=) c.4755C>T (p.Val1585=) c.5055C>T (p.Val1685=) n.5506C>T | |
9 | g.104798430G>C | CA466503090 | ABCA1 | c.5112C>G (p.Val1704=) c.5118C>G (p.Val1706=) c.4938C>G (p.Val1646=) c.5193C>G (p.Val1731=) c.5187C>G (p.Val1729=) c.4755C>G (p.Val1585=) c.5055C>G (p.Val1685=) n.5506C>G | |
9 | g.104798430G>T | CA466503091 | ABCA1 | c.5112C>A (p.Val1704=) c.5118C>A (p.Val1706=) c.4938C>A (p.Val1646=) c.5193C>A (p.Val1731=) c.5187C>A (p.Val1729=) c.4755C>A (p.Val1585=) c.5055C>A (p.Val1685=) n.5506C>A | |
9 | g.104798431A= | CA1869915733 | ABCA1 | c.5111T= (p.Val1704=) c.5117T= (p.Val1706=) c.4937T= (p.Val1646=) c.5192T= (p.Val1731=) c.5186T= (p.Val1729=) c.4754T= (p.Val1585=) c.5054T= (p.Val1685=) n.5505T= | |
9 | g.104798431A>C | CA374313927 | ABCA1 | c.5111T>G (p.Val1704Gly) c.5117T>G (p.Val1706Gly) c.4937T>G (p.Val1646Gly) c.5192T>G (p.Val1731Gly) c.5186T>G (p.Val1729Gly) c.4754T>G (p.Val1585Gly) c.5054T>G (p.Val1685Gly) n.5505T>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798431A>G | CA374313928 | ABCA1 | c.5111T>C (p.Val1704Ala) c.5117T>C (p.Val1706Ala) c.4937T>C (p.Val1646Ala) c.5192T>C (p.Val1731Ala) c.5186T>C (p.Val1729Ala) c.4754T>C (p.Val1585Ala) c.5054T>C (p.Val1685Ala) n.5505T>C | |
9 | g.104798431A>T | CA374313929 | ABCA1 | c.5111T>A (p.Val1704Asp) c.5117T>A (p.Val1706Asp) c.4937T>A (p.Val1646Asp) c.5192T>A (p.Val1731Asp) c.5186T>A (p.Val1729Asp) c.4754T>A (p.Val1585Asp) c.5054T>A (p.Val1685Asp) n.5505T>A | |
9 | g.104798432C>A | CA374313930 | ABCA1 | c.5110G>T (p.Val1704Phe) c.5116G>T (p.Val1706Phe) c.4936G>T (p.Val1646Phe) c.5191G>T (p.Val1731Phe) c.5185G>T (p.Val1729Phe) c.4753G>T (p.Val1585Phe) c.5053G>T (p.Val1685Phe) n.5504G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798432C= | CA1869915748 | ABCA1 | c.5110G= (p.Val1704=) c.5116G= (p.Val1706=) c.4936G= (p.Val1646=) c.5191G= (p.Val1731=) c.5185G= (p.Val1729=) c.4753G= (p.Val1585=) c.5053G= (p.Val1685=) n.5504G= | |
9 | g.104798432C>G | CA374313931 | ABCA1 | c.5110G>C (p.Val1704Leu) c.5116G>C (p.Val1706Leu) c.4936G>C (p.Val1646Leu) c.5191G>C (p.Val1731Leu) c.5185G>C (p.Val1729Leu) c.4753G>C (p.Val1585Leu) c.5053G>C (p.Val1685Leu) n.5504G>C | |
9 | g.104798432C>T | CA374313932 | ABCA1 | c.5110G>A (p.Val1704Ile) c.5116G>A (p.Val1706Ile) c.4936G>A (p.Val1646Ile) c.5191G>A (p.Val1731Ile) c.5185G>A (p.Val1729Ile) c.4753G>A (p.Val1585Ile) c.5053G>A (p.Val1685Ile) n.5504G>A | |
9 | g.104798433A= | CA1869915757 | ABCA1 | c.5109T= (p.Phe1703=) c.5115T= (p.Phe1705=) c.4935T= (p.Phe1645=) c.5190T= (p.Phe1730=) c.5184T= (p.Phe1728=) c.4752T= (p.Phe1584=) c.5052T= (p.Phe1684=) n.5503T= | |
9 | g.104798433A>C | CA374313933 | ABCA1 | c.5109T>G (p.Phe1703Leu) c.5115T>G (p.Phe1705Leu) c.4935T>G (p.Phe1645Leu) c.5190T>G (p.Phe1730Leu) c.5184T>G (p.Phe1728Leu) c.4752T>G (p.Phe1584Leu) c.5052T>G (p.Phe1684Leu) n.5503T>G | |
9 | g.104798433A>G | CA197361787 | ABCA1 | c.5109T>C (p.Phe1703=) c.5115T>C (p.Phe1705=) c.4935T>C (p.Phe1645=) c.5190T>C (p.Phe1730=) c.5184T>C (p.Phe1728=) c.4752T>C (p.Phe1584=) c.5052T>C (p.Phe1684=) n.5503T>C | ClinVar dbSNP gnomAD v2 |
9 | g.104798433A>T | CA374313934 | ABCA1 | c.5109T>A (p.Phe1703Leu) c.5115T>A (p.Phe1705Leu) c.4935T>A (p.Phe1645Leu) c.5190T>A (p.Phe1730Leu) c.5184T>A (p.Phe1728Leu) c.4752T>A (p.Phe1584Leu) c.5052T>A (p.Phe1684Leu) n.5503T>A | |
9 | g.104798434A= | CA1869915787 | ABCA1 | c.5108T= (p.Phe1703=) c.5114T= (p.Phe1705=) c.4934T= (p.Phe1645=) c.5189T= (p.Phe1730=) c.5183T= (p.Phe1728=) c.4751T= (p.Phe1584=) c.5051T= (p.Phe1684=) n.5502T= | |
9 | g.104798434A>C | CA374313937 | ABCA1 | c.5108T>G (p.Phe1703Cys) c.5114T>G (p.Phe1705Cys) c.4934T>G (p.Phe1645Cys) c.5189T>G (p.Phe1730Cys) c.5183T>G (p.Phe1728Cys) c.4751T>G (p.Phe1584Cys) c.5051T>G (p.Phe1684Cys) n.5502T>G | |
9 | g.104798434A>G | CA374313936 | ABCA1 | c.5108T>C (p.Phe1703Ser) c.5114T>C (p.Phe1705Ser) c.4934T>C (p.Phe1645Ser) c.5189T>C (p.Phe1730Ser) c.5183T>C (p.Phe1728Ser) c.4751T>C (p.Phe1584Ser) c.5051T>C (p.Phe1684Ser) n.5502T>C | dbSNP gnomAD v2 |
9 | g.104798434A>T | CA374313935 | ABCA1 | c.5108T>A (p.Phe1703Tyr) c.5114T>A (p.Phe1705Tyr) c.4934T>A (p.Phe1645Tyr) c.5189T>A (p.Phe1730Tyr) c.5183T>A (p.Phe1728Tyr) c.4751T>A (p.Phe1584Tyr) c.5051T>A (p.Phe1684Tyr) n.5502T>A | |
9 | g.104798435A>C | CA374313938 | ABCA1 | c.5107T>G (p.Phe1703Val) c.5113T>G (p.Phe1705Val) c.4933T>G (p.Phe1645Val) c.5188T>G (p.Phe1730Val) c.5182T>G (p.Phe1728Val) c.4750T>G (p.Phe1584Val) c.5050T>G (p.Phe1684Val) n.5501T>G | |
9 | g.104798435A>G | CA374313940 | ABCA1 | c.5107T>C (p.Phe1703Leu) c.5113T>C (p.Phe1705Leu) c.4933T>C (p.Phe1645Leu) c.5188T>C (p.Phe1730Leu) c.5182T>C (p.Phe1728Leu) c.4750T>C (p.Phe1584Leu) c.5050T>C (p.Phe1684Leu) n.5501T>C | |
9 | g.104798435A>T | CA374313939 | ABCA1 | c.5107T>A (p.Phe1703Ile) c.5113T>A (p.Phe1705Ile) c.4933T>A (p.Phe1645Ile) c.5188T>A (p.Phe1730Ile) c.5182T>A (p.Phe1728Ile) c.4750T>A (p.Phe1584Ile) c.5050T>A (p.Phe1684Ile) n.5501T>A | |
9 | g.104798436A>C | CA374313941 | ABCA1 | c.5106T>G (p.Asn1702Lys) c.5112T>G (p.Asn1704Lys) c.4932T>G (p.Asn1644Lys) c.5187T>G (p.Asn1729Lys) c.5181T>G (p.Asn1727Lys) c.4749T>G (p.Asn1583Lys) c.5049T>G (p.Asn1683Lys) n.5500T>G | |
9 | g.104798436A>G | CA466503092 | ABCA1 | c.5106T>C (p.Asn1702=) c.5112T>C (p.Asn1704=) c.4932T>C (p.Asn1644=) c.5187T>C (p.Asn1729=) c.5181T>C (p.Asn1727=) c.4749T>C (p.Asn1583=) c.5049T>C (p.Asn1683=) n.5500T>C | |
9 | g.104798436A>T | CA374313942 | ABCA1 | c.5106T>A (p.Asn1702Lys) c.5112T>A (p.Asn1704Lys) c.4932T>A (p.Asn1644Lys) c.5187T>A (p.Asn1729Lys) c.5181T>A (p.Asn1727Lys) c.4749T>A (p.Asn1583Lys) c.5049T>A (p.Asn1683Lys) n.5500T>A | |
9 | g.104798437T>A | CA374313943 | ABCA1 | c.5105A>T (p.Asn1702Ile) c.5111A>T (p.Asn1704Ile) c.4931A>T (p.Asn1644Ile) c.5186A>T (p.Asn1729Ile) c.5180A>T (p.Asn1727Ile) c.4748A>T (p.Asn1583Ile) c.5048A>T (p.Asn1683Ile) n.5499A>T | |
9 | g.104798437T>C | CA374313944 | ABCA1 | c.5105A>G (p.Asn1702Ser) c.5111A>G (p.Asn1704Ser) c.4931A>G (p.Asn1644Ser) c.5186A>G (p.Asn1729Ser) c.5180A>G (p.Asn1727Ser) c.4748A>G (p.Asn1583Ser) c.5048A>G (p.Asn1683Ser) n.5499A>G | |
9 | g.104798437T>G | CA374313945 | ABCA1 | c.5105A>C (p.Asn1702Thr) c.5111A>C (p.Asn1704Thr) c.4931A>C (p.Asn1644Thr) c.5186A>C (p.Asn1729Thr) c.5180A>C (p.Asn1727Thr) c.4748A>C (p.Asn1583Thr) c.5048A>C (p.Asn1683Thr) n.5499A>C | dbSNP |
9 | g.104798438T>A | CA374313947 | ABCA1 | c.5104A>T (p.Asn1702Tyr) c.5110A>T (p.Asn1704Tyr) c.4930A>T (p.Asn1644Tyr) c.5185A>T (p.Asn1729Tyr) c.5179A>T (p.Asn1727Tyr) c.4747A>T (p.Asn1583Tyr) c.5047A>T (p.Asn1683Tyr) n.5498A>T | |
9 | g.104798438T>C | CA5167942 | ABCA1 | c.5104A>G (p.Asn1702Asp) c.5110A>G (p.Asn1704Asp) c.4930A>G (p.Asn1644Asp) c.5185A>G (p.Asn1729Asp) c.5179A>G (p.Asn1727Asp) c.4747A>G (p.Asn1583Asp) c.5047A>G (p.Asn1683Asp) n.5498A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798438T>G | CA374313946 | ABCA1 | c.5104A>C (p.Asn1702His) c.5110A>C (p.Asn1704His) c.4930A>C (p.Asn1644His) c.5185A>C (p.Asn1729His) c.5179A>C (p.Asn1727His) c.4747A>C (p.Asn1583His) c.5047A>C (p.Asn1683His) n.5498A>C | gnomAD v4 |
9 | g.104798438T= | CA1869915794 | ABCA1 | c.5104A= (p.Asn1702=) c.5110A= (p.Asn1704=) c.4930A= (p.Asn1644=) c.5185A= (p.Asn1729=) c.5179A= (p.Asn1727=) c.4747A= (p.Asn1583=) c.5047A= (p.Asn1683=) n.5498A= | |
9 | g.104798438_104798442delinsTAGAG | CA1869915795 | ABCA1 | c.5100_5104delinsCTCTA (p.Leu1700=) c.5106_5110delinsCTCTA (p.Leu1702=) c.4926_4930delinsCTCTA (p.Leu1642=) c.5181_5185delinsCTCTA (p.Leu1727=) c.5175_5179delinsCTCTA (p.Leu1725=) c.4743_4747delinsCTCTA (p.Leu1581=) c.5043_5047delinsCTCTA (p.Leu1681=) n.5494_5498delinsCTCTA | |
9 | g.104798439A>C | CA466503094 | ABCA1 | c.5103T>G (p.Ser1701=) c.5109T>G (p.Ser1703=) c.4929T>G (p.Ser1643=) c.5184T>G (p.Ser1728=) c.5178T>G (p.Ser1726=) c.4746T>G (p.Ser1582=) c.5046T>G (p.Ser1682=) n.5497T>G | |
9 | g.104798439A>G | CA466503095 | ABCA1 | c.5103T>C (p.Ser1701=) c.5109T>C (p.Ser1703=) c.4929T>C (p.Ser1643=) c.5184T>C (p.Ser1728=) c.5178T>C (p.Ser1726=) c.4746T>C (p.Ser1582=) c.5046T>C (p.Ser1682=) n.5497T>C | |
9 | g.104798439A>T | CA466503093 | ABCA1 | c.5103T>A (p.Ser1701=) c.5109T>A (p.Ser1703=) c.4929T>A (p.Ser1643=) c.5184T>A (p.Ser1728=) c.5178T>A (p.Ser1726=) c.4746T>A (p.Ser1582=) c.5046T>A (p.Ser1682=) n.5497T>A | |
9 | g.104798441_104798444del | CA1127650578 | ABCA1 | c.5100_5103del (p.Ser1701IlefsTer?) c.5106_5109del (p.Ser1703IlefsTer?) c.4926_4929del (p.Ser1643IlefsTer?) c.5181_5184del (p.Ser1728IlefsTer?) c.5175_5178del (p.Ser1726IlefsTer?) c.4743_4746del (p.Ser1582IlefsTer?) c.5043_5046del (p.Ser1682IlefsTer?) n.5494_5497del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104798440G>A | CA374313948 | ABCA1 | c.5102C>T (p.Ser1701Phe) c.5108C>T (p.Ser1703Phe) c.4928C>T (p.Ser1643Phe) c.5183C>T (p.Ser1728Phe) c.5177C>T (p.Ser1726Phe) c.4745C>T (p.Ser1582Phe) c.5045C>T (p.Ser1682Phe) n.5496C>T | |
9 | g.104798440G>C | CA374313949 | ABCA1 | c.5102C>G (p.Ser1701Cys) c.5108C>G (p.Ser1703Cys) c.4928C>G (p.Ser1643Cys) c.5183C>G (p.Ser1728Cys) c.5177C>G (p.Ser1726Cys) c.4745C>G (p.Ser1582Cys) c.5045C>G (p.Ser1682Cys) n.5496C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798440G= | CA1869915806 | ABCA1 | c.5102C= (p.Ser1701=) c.5108C= (p.Ser1703=) c.4928C= (p.Ser1643=) c.5183C= (p.Ser1728=) c.5177C= (p.Ser1726=) c.4745C= (p.Ser1582=) c.5045C= (p.Ser1682=) n.5496C= | |
9 | g.104798440G>T | CA374313950 | ABCA1 | c.5102C>A (p.Ser1701Tyr) c.5108C>A (p.Ser1703Tyr) c.4928C>A (p.Ser1643Tyr) c.5183C>A (p.Ser1728Tyr) c.5177C>A (p.Ser1726Tyr) c.4745C>A (p.Ser1582Tyr) c.5045C>A (p.Ser1682Tyr) n.5496C>A | |
9 | g.104798441A>C | CA374313951 | ABCA1 | c.5101T>G (p.Ser1701Ala) c.5107T>G (p.Ser1703Ala) c.4927T>G (p.Ser1643Ala) c.5182T>G (p.Ser1728Ala) c.5176T>G (p.Ser1726Ala) c.4744T>G (p.Ser1582Ala) c.5044T>G (p.Ser1682Ala) n.5495T>G | |
9 | g.104798441A>G | CA374313952 | ABCA1 | c.5101T>C (p.Ser1701Pro) c.5107T>C (p.Ser1703Pro) c.4927T>C (p.Ser1643Pro) c.5182T>C (p.Ser1728Pro) c.5176T>C (p.Ser1726Pro) c.4744T>C (p.Ser1582Pro) c.5044T>C (p.Ser1682Pro) n.5495T>C | gnomAD v4 |
9 | g.104798441A>T | CA374313953 | ABCA1 | c.5101T>A (p.Ser1701Thr) c.5107T>A (p.Ser1703Thr) c.4927T>A (p.Ser1643Thr) c.5182T>A (p.Ser1728Thr) c.5176T>A (p.Ser1726Thr) c.4744T>A (p.Ser1582Thr) c.5044T>A (p.Ser1682Thr) n.5495T>A | |
9 | g.104798442G>A | CA466503098 | ABCA1 | c.5100C>T (p.Leu1700=) c.5106C>T (p.Leu1702=) c.4926C>T (p.Leu1642=) c.5181C>T (p.Leu1727=) c.5175C>T (p.Leu1725=) c.4743C>T (p.Leu1581=) c.5043C>T (p.Leu1681=) n.5494C>T | ClinVar dbSNP gnomAD v4 |
9 | g.104798442G>C | CA466503096 | ABCA1 | c.5100C>G (p.Leu1700=) c.5106C>G (p.Leu1702=) c.4926C>G (p.Leu1642=) c.5181C>G (p.Leu1727=) c.5175C>G (p.Leu1725=) c.4743C>G (p.Leu1581=) c.5043C>G (p.Leu1681=) n.5494C>G | COSMIC |
9 | g.104798442G= | CA1869915818 | ABCA1 | c.5100C= (p.Leu1700=) c.5106C= (p.Leu1702=) c.4926C= (p.Leu1642=) c.5181C= (p.Leu1727=) c.5175C= (p.Leu1725=) c.4743C= (p.Leu1581=) c.5043C= (p.Leu1681=) n.5494C= | |
9 | g.104798442G>T | CA466503097 | ABCA1 | c.5100C>A (p.Leu1700=) c.5106C>A (p.Leu1702=) c.4926C>A (p.Leu1642=) c.5181C>A (p.Leu1727=) c.5175C>A (p.Leu1725=) c.4743C>A (p.Leu1581=) c.5043C>A (p.Leu1681=) n.5494C>A | |
9 | g.104798443A>C | CA374313956 | ABCA1 | c.5099T>G (p.Leu1700Arg) c.5105T>G (p.Leu1702Arg) c.4925T>G (p.Leu1642Arg) c.5180T>G (p.Leu1727Arg) c.5174T>G (p.Leu1725Arg) c.4742T>G (p.Leu1581Arg) c.5042T>G (p.Leu1681Arg) n.5493T>G | |
9 | g.104798443A>G | CA374313954 | ABCA1 | c.5099T>C (p.Leu1700Pro) c.5105T>C (p.Leu1702Pro) c.4925T>C (p.Leu1642Pro) c.5180T>C (p.Leu1727Pro) c.5174T>C (p.Leu1725Pro) c.4742T>C (p.Leu1581Pro) c.5042T>C (p.Leu1681Pro) n.5493T>C | |
9 | g.104798443A>T | CA374313955 | ABCA1 | c.5099T>A (p.Leu1700His) c.5105T>A (p.Leu1702His) c.4925T>A (p.Leu1642His) c.5180T>A (p.Leu1727His) c.5174T>A (p.Leu1725His) c.4742T>A (p.Leu1581His) c.5042T>A (p.Leu1681His) n.5493T>A | |
9 | g.104798444G>A | CA374313957 | ABCA1 | c.5098C>T (p.Leu1700Phe) c.5104C>T (p.Leu1702Phe) c.4924C>T (p.Leu1642Phe) c.5179C>T (p.Leu1727Phe) c.5173C>T (p.Leu1725Phe) c.4741C>T (p.Leu1581Phe) c.5041C>T (p.Leu1681Phe) n.5492C>T | |
9 | g.104798444G>C | CA374313958 | ABCA1 | c.5098C>G (p.Leu1700Val) c.5104C>G (p.Leu1702Val) c.4924C>G (p.Leu1642Val) c.5179C>G (p.Leu1727Val) c.5173C>G (p.Leu1725Val) c.4741C>G (p.Leu1581Val) c.5041C>G (p.Leu1681Val) n.5492C>G | |
9 | g.104798444G>T | CA374313959 | ABCA1 | c.5098C>A (p.Leu1700Ile) c.5104C>A (p.Leu1702Ile) c.4924C>A (p.Leu1642Ile) c.5179C>A (p.Leu1727Ile) c.5173C>A (p.Leu1725Ile) c.4741C>A (p.Leu1581Ile) c.5041C>A (p.Leu1681Ile) n.5492C>A | |
9 | g.104798445C>A | CA5167943 | ABCA1 | c.5097G>T (p.Trp1699Cys) c.5103G>T (p.Trp1701Cys) c.4923G>T (p.Trp1641Cys) c.5178G>T (p.Trp1726Cys) c.5172G>T (p.Trp1724Cys) c.4740G>T (p.Trp1580Cys) c.5040G>T (p.Trp1680Cys) n.5491G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798445C= | CA1869915827 | ABCA1 | c.5097G= (p.Trp1699=) c.5103G= (p.Trp1701=) c.4923G= (p.Trp1641=) c.5178G= (p.Trp1726=) c.5172G= (p.Trp1724=) c.4740G= (p.Trp1580=) c.5040G= (p.Trp1680=) n.5491G= | |
9 | g.104798445C>G | CA374313960 | ABCA1 | c.5097G>C (p.Trp1699Cys) c.5103G>C (p.Trp1701Cys) c.4923G>C (p.Trp1641Cys) c.5178G>C (p.Trp1726Cys) c.5172G>C (p.Trp1724Cys) c.4740G>C (p.Trp1580Cys) c.5040G>C (p.Trp1680Cys) n.5491G>C | |
9 | g.104798445C>T | CA374313961 | ABCA1 | c.5097G>A (p.Trp1699Ter) c.5103G>A (p.Trp1701Ter) c.4923G>A (p.Trp1641Ter) c.5178G>A (p.Trp1726Ter) c.5172G>A (p.Trp1724Ter) c.4740G>A (p.Trp1580Ter) c.5040G>A (p.Trp1680Ter) n.5491G>A | |
9 | g.104798446C>A | CA374313962 | ABCA1 | c.5096G>T (p.Trp1699Leu) c.5102G>T (p.Trp1701Leu) c.4922G>T (p.Trp1641Leu) c.5177G>T (p.Trp1726Leu) c.5171G>T (p.Trp1724Leu) c.4739G>T (p.Trp1580Leu) c.5039G>T (p.Trp1680Leu) n.5490G>T | |
9 | g.104798446C= | CA1869915831 | ABCA1 | c.5096G= (p.Trp1699=) c.5102G= (p.Trp1701=) c.4922G= (p.Trp1641=) c.5177G= (p.Trp1726=) c.5171G= (p.Trp1724=) c.4739G= (p.Trp1580=) c.5039G= (p.Trp1680=) n.5490G= | |
9 | g.104798446C>G | CA374313963 | ABCA1 | c.5096G>C (p.Trp1699Ser) c.5102G>C (p.Trp1701Ser) c.4922G>C (p.Trp1641Ser) c.5177G>C (p.Trp1726Ser) c.5171G>C (p.Trp1724Ser) c.4739G>C (p.Trp1580Ser) c.5039G>C (p.Trp1680Ser) n.5490G>C | |
9 | g.104798446C>T | CA374313964 | ABCA1 | c.5096G>A (p.Trp1699Ter) c.5102G>A (p.Trp1701Ter) c.4922G>A (p.Trp1641Ter) c.5177G>A (p.Trp1726Ter) c.5171G>A (p.Trp1724Ter) c.4739G>A (p.Trp1580Ter) c.5039G>A (p.Trp1680Ter) n.5490G>A | dbSNP |
9 | g.104798447A>C | CA374313965 | ABCA1 | c.5095T>G (p.Trp1699Gly) c.5101T>G (p.Trp1701Gly) c.4921T>G (p.Trp1641Gly) c.5176T>G (p.Trp1726Gly) c.5170T>G (p.Trp1724Gly) c.4738T>G (p.Trp1580Gly) c.5038T>G (p.Trp1680Gly) n.5489T>G | |
9 | g.104798447A>G | CA374313966 | ABCA1 | c.5095T>C (p.Trp1699Arg) c.5101T>C (p.Trp1701Arg) c.4921T>C (p.Trp1641Arg) c.5176T>C (p.Trp1726Arg) c.5170T>C (p.Trp1724Arg) c.4738T>C (p.Trp1580Arg) c.5038T>C (p.Trp1680Arg) n.5489T>C | |
9 | g.104798447A>T | CA374313967 | ABCA1 | c.5095T>A (p.Trp1699Arg) c.5101T>A (p.Trp1701Arg) c.4921T>A (p.Trp1641Arg) c.5176T>A (p.Trp1726Arg) c.5170T>A (p.Trp1724Arg) c.4738T>A (p.Trp1580Arg) c.5038T>A (p.Trp1680Arg) n.5489T>A | |
9 | g.104798448G>A | CA5167944 | ABCA1 | c.5094C>T (p.Tyr1698=) c.5100C>T (p.Tyr1700=) c.4920C>T (p.Tyr1640=) c.5175C>T (p.Tyr1725=) c.5169C>T (p.Tyr1723=) c.4737C>T (p.Tyr1579=) c.5037C>T (p.Tyr1679=) n.5488C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798448G>C | CA374313968 | ABCA1 | c.5094C>G (p.Tyr1698Ter) c.5100C>G (p.Tyr1700Ter) c.4920C>G (p.Tyr1640Ter) c.5175C>G (p.Tyr1725Ter) c.5169C>G (p.Tyr1723Ter) c.4737C>G (p.Tyr1579Ter) c.5037C>G (p.Tyr1679Ter) n.5488C>G | |
9 | g.104798448G= | CA1869915836 | ABCA1 | c.5094C= (p.Tyr1698=) c.5100C= (p.Tyr1700=) c.4920C= (p.Tyr1640=) c.5175C= (p.Tyr1725=) c.5169C= (p.Tyr1723=) c.4737C= (p.Tyr1579=) c.5037C= (p.Tyr1679=) n.5488C= | |
9 | g.104798448G>T | CA374313969 | ABCA1 | c.5094C>A (p.Tyr1698Ter) c.5100C>A (p.Tyr1700Ter) c.4920C>A (p.Tyr1640Ter) c.5175C>A (p.Tyr1725Ter) c.5169C>A (p.Tyr1723Ter) c.4737C>A (p.Tyr1579Ter) c.5037C>A (p.Tyr1679Ter) n.5488C>A | |
9 | g.104798449T>A | CA374313970 | ABCA1 | c.5093A>T (p.Tyr1698Phe) c.5099A>T (p.Tyr1700Phe) c.4919A>T (p.Tyr1640Phe) c.5174A>T (p.Tyr1725Phe) c.5168A>T (p.Tyr1723Phe) c.4736A>T (p.Tyr1579Phe) c.5036A>T (p.Tyr1679Phe) n.5487A>T | |
9 | g.104798449T>C | CA374313971 | ABCA1 | c.5093A>G (p.Tyr1698Cys) c.5099A>G (p.Tyr1700Cys) c.4919A>G (p.Tyr1640Cys) c.5174A>G (p.Tyr1725Cys) c.5168A>G (p.Tyr1723Cys) c.4736A>G (p.Tyr1579Cys) c.5036A>G (p.Tyr1679Cys) n.5487A>G | |
9 | g.104798449T>G | CA374313972 | ABCA1 | c.5093A>C (p.Tyr1698Ser) c.5099A>C (p.Tyr1700Ser) c.4919A>C (p.Tyr1640Ser) c.5174A>C (p.Tyr1725Ser) c.5168A>C (p.Tyr1723Ser) c.4736A>C (p.Tyr1579Ser) c.5036A>C (p.Tyr1679Ser) n.5487A>C | |
9 | g.104798450A>C | CA374313973 | ABCA1 | c.5092T>G (p.Tyr1698Asp) c.5098T>G (p.Tyr1700Asp) c.4918T>G (p.Tyr1640Asp) c.5173T>G (p.Tyr1725Asp) c.5167T>G (p.Tyr1723Asp) c.4735T>G (p.Tyr1579Asp) c.5035T>G (p.Tyr1679Asp) n.5486T>G | |
9 | g.104798450A>G | CA374313974 | ABCA1 | c.5092T>C (p.Tyr1698His) c.5098T>C (p.Tyr1700His) c.4918T>C (p.Tyr1640His) c.5173T>C (p.Tyr1725His) c.5167T>C (p.Tyr1723His) c.4735T>C (p.Tyr1579His) c.5035T>C (p.Tyr1679His) n.5486T>C | |
9 | g.104798450A>T | CA374313975 | ABCA1 | c.5092T>A (p.Tyr1698Asn) c.5098T>A (p.Tyr1700Asn) c.4918T>A (p.Tyr1640Asn) c.5173T>A (p.Tyr1725Asn) c.5167T>A (p.Tyr1723Asn) c.4735T>A (p.Tyr1579Asn) c.5035T>A (p.Tyr1679Asn) n.5486T>A | |
9 | g.104798451G>A | CA466503099 | ABCA1 | c.5091C>T (p.Ile1697=) c.5097C>T (p.Ile1699=) c.4917C>T (p.Ile1639=) c.5172C>T (p.Ile1724=) c.5166C>T (p.Ile1722=) c.4734C>T (p.Ile1578=) c.5034C>T (p.Ile1678=) n.5485C>T | |
9 | g.104798451G>C | CA374313976 | ABCA1 | c.5091C>G (p.Ile1697Met) c.5097C>G (p.Ile1699Met) c.4917C>G (p.Ile1639Met) c.5172C>G (p.Ile1724Met) c.5166C>G (p.Ile1722Met) c.4734C>G (p.Ile1578Met) c.5034C>G (p.Ile1678Met) n.5485C>G | |
9 | g.104798451G>T | CA466503100 | ABCA1 | c.5091C>A (p.Ile1697=) c.5097C>A (p.Ile1699=) c.4917C>A (p.Ile1639=) c.5172C>A (p.Ile1724=) c.5166C>A (p.Ile1722=) c.4734C>A (p.Ile1578=) c.5034C>A (p.Ile1678=) n.5485C>A | gnomAD v4 |
9 | g.104798452del | CA2691050508 | ABCA1 | c.5090del (p.Ile1697ThrfsTer?) c.5096del (p.Ile1699ThrfsTer?) c.4916del (p.Ile1639ThrfsTer?) c.5171del (p.Ile1724ThrfsTer?) c.5165del (p.Ile1722ThrfsTer?) c.4733del (p.Ile1578ThrfsTer?) c.5033del (p.Ile1678ThrfsTer?) n.5484del | gnomAD v4 |
9 | g.104798452A>C | CA374313977 | ABCA1 | c.5090T>G (p.Ile1697Ser) c.5096T>G (p.Ile1699Ser) c.4916T>G (p.Ile1639Ser) c.5171T>G (p.Ile1724Ser) c.5165T>G (p.Ile1722Ser) c.4733T>G (p.Ile1578Ser) c.5033T>G (p.Ile1678Ser) n.5484T>G | |
9 | g.104798452A>G | CA374313979 | ABCA1 | c.5090T>C (p.Ile1697Thr) c.5096T>C (p.Ile1699Thr) c.4916T>C (p.Ile1639Thr) c.5171T>C (p.Ile1724Thr) c.5165T>C (p.Ile1722Thr) c.4733T>C (p.Ile1578Thr) c.5033T>C (p.Ile1678Thr) n.5484T>C | |
9 | g.104798452A>T | CA374313978 | ABCA1 | c.5090T>A (p.Ile1697Asn) c.5096T>A (p.Ile1699Asn) c.4916T>A (p.Ile1639Asn) c.5171T>A (p.Ile1724Asn) c.5165T>A (p.Ile1722Asn) c.4733T>A (p.Ile1578Asn) c.5033T>A (p.Ile1678Asn) n.5484T>A | |
9 | g.104798453T>A | CA374313980 | ABCA1 | c.5089A>T (p.Ile1697Phe) c.5095A>T (p.Ile1699Phe) c.4915A>T (p.Ile1639Phe) c.5170A>T (p.Ile1724Phe) c.5164A>T (p.Ile1722Phe) c.4732A>T (p.Ile1578Phe) c.5032A>T (p.Ile1678Phe) n.5483A>T | |
9 | g.104798453T>C | CA5167945 | ABCA1 | c.5089A>G (p.Ile1697Val) c.5095A>G (p.Ile1699Val) c.4915A>G (p.Ile1639Val) c.5170A>G (p.Ile1724Val) c.5164A>G (p.Ile1722Val) c.4732A>G (p.Ile1578Val) c.5032A>G (p.Ile1678Val) n.5483A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798453T>G | CA374313981 | ABCA1 | c.5089A>C (p.Ile1697Leu) c.5095A>C (p.Ile1699Leu) c.4915A>C (p.Ile1639Leu) c.5170A>C (p.Ile1724Leu) c.5164A>C (p.Ile1722Leu) c.4732A>C (p.Ile1578Leu) c.5032A>C (p.Ile1678Leu) n.5483A>C | |
9 | g.104798453T= | CA1869915853 | ABCA1 | c.5089A= (p.Ile1697=) c.5095A= (p.Ile1699=) c.4915A= (p.Ile1639=) c.5170A= (p.Ile1724=) c.5164A= (p.Ile1722=) c.4732A= (p.Ile1578=) c.5032A= (p.Ile1678=) n.5483A= | |
9 | g.104798454G>A | CA5167946 | ABCA1 | c.5088C>T (p.Val1696=) c.5094C>T (p.Val1698=) c.4914C>T (p.Val1638=) c.5169C>T (p.Val1723=) c.5163C>T (p.Val1721=) c.4731C>T (p.Val1577=) c.5031C>T (p.Val1677=) n.5482C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798454G>C | CA466503101 | ABCA1 | c.5088C>G (p.Val1696=) c.5094C>G (p.Val1698=) c.4914C>G (p.Val1638=) c.5169C>G (p.Val1723=) c.5163C>G (p.Val1721=) c.4731C>G (p.Val1577=) c.5031C>G (p.Val1677=) n.5482C>G | |
9 | g.104798454G= | CA1869915861 | ABCA1 | c.5088C= (p.Val1696=) c.5094C= (p.Val1698=) c.4914C= (p.Val1638=) c.5169C= (p.Val1723=) c.5163C= (p.Val1721=) c.4731C= (p.Val1577=) c.5031C= (p.Val1677=) n.5482C= | |
9 | g.104798454G>T | CA466503102 | ABCA1 | c.5088C>A (p.Val1696=) c.5094C>A (p.Val1698=) c.4914C>A (p.Val1638=) c.5169C>A (p.Val1723=) c.5163C>A (p.Val1721=) c.4731C>A (p.Val1577=) c.5031C>A (p.Val1677=) n.5482C>A | dbSNP |
9 | g.104798455A>C | CA374313982 | ABCA1 | c.5087T>G (p.Val1696Gly) c.5093T>G (p.Val1698Gly) c.4913T>G (p.Val1638Gly) c.5168T>G (p.Val1723Gly) c.5162T>G (p.Val1721Gly) c.4730T>G (p.Val1577Gly) c.5030T>G (p.Val1677Gly) n.5481T>G | |
9 | g.104798455A>G | CA374313984 | ABCA1 | c.5087T>C (p.Val1696Ala) c.5093T>C (p.Val1698Ala) c.4913T>C (p.Val1638Ala) c.5168T>C (p.Val1723Ala) c.5162T>C (p.Val1721Ala) c.4730T>C (p.Val1577Ala) c.5030T>C (p.Val1677Ala) n.5481T>C | |
9 | g.104798455A>T | CA374313983 | ABCA1 | c.5087T>A (p.Val1696Asp) c.5093T>A (p.Val1698Asp) c.4913T>A (p.Val1638Asp) c.5168T>A (p.Val1723Asp) c.5162T>A (p.Val1721Asp) c.4730T>A (p.Val1577Asp) c.5030T>A (p.Val1677Asp) n.5481T>A | |
9 | g.104798456C>A | CA374313985 | ABCA1 | c.5086G>T (p.Val1696Phe) c.5092G>T (p.Val1698Phe) c.4912G>T (p.Val1638Phe) c.5167G>T (p.Val1723Phe) c.5161G>T (p.Val1721Phe) c.4729G>T (p.Val1577Phe) c.5029G>T (p.Val1677Phe) n.5480G>T | |
9 | g.104798456C>G | CA374313986 | ABCA1 | c.5086G>C (p.Val1696Leu) c.5092G>C (p.Val1698Leu) c.4912G>C (p.Val1638Leu) c.5167G>C (p.Val1723Leu) c.5161G>C (p.Val1721Leu) c.4729G>C (p.Val1577Leu) c.5029G>C (p.Val1677Leu) n.5480G>C | |
9 | g.104798456C>T | CA374313987 | ABCA1 | c.5086G>A (p.Val1696Ile) c.5092G>A (p.Val1698Ile) c.4912G>A (p.Val1638Ile) c.5167G>A (p.Val1723Ile) c.5161G>A (p.Val1721Ile) c.4729G>A (p.Val1577Ile) c.5029G>A (p.Val1677Ile) n.5480G>A | |
9 | g.104798457A>C | CA466503103 | ABCA1 | c.5085T>G (p.Pro1695=) c.5091T>G (p.Pro1697=) c.4911T>G (p.Pro1637=) c.5166T>G (p.Pro1722=) c.5160T>G (p.Pro1720=) c.4728T>G (p.Pro1576=) c.5028T>G (p.Pro1676=) n.5479T>G | |
9 | g.104798457A>G | CA466503104 | ABCA1 | c.5085T>C (p.Pro1695=) c.5091T>C (p.Pro1697=) c.4911T>C (p.Pro1637=) c.5166T>C (p.Pro1722=) c.5160T>C (p.Pro1720=) c.4728T>C (p.Pro1576=) c.5028T>C (p.Pro1676=) n.5479T>C | gnomAD v4 |
9 | g.104798457A>T | CA466503105 | ABCA1 | c.5085T>A (p.Pro1695=) c.5091T>A (p.Pro1697=) c.4911T>A (p.Pro1637=) c.5166T>A (p.Pro1722=) c.5160T>A (p.Pro1720=) c.4728T>A (p.Pro1576=) c.5028T>A (p.Pro1676=) n.5479T>A | |
9 | g.104798458G>A | CA5167947 | ABCA1 | c.5084C>T (p.Pro1695Leu) c.5090C>T (p.Pro1697Leu) c.4910C>T (p.Pro1637Leu) c.5165C>T (p.Pro1722Leu) c.5159C>T (p.Pro1720Leu) c.4727C>T (p.Pro1576Leu) c.5027C>T (p.Pro1676Leu) n.5478C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798458G>C | CA374313988 | ABCA1 | c.5084C>G (p.Pro1695Arg) c.5090C>G (p.Pro1697Arg) c.4910C>G (p.Pro1637Arg) c.5165C>G (p.Pro1722Arg) c.5159C>G (p.Pro1720Arg) c.4727C>G (p.Pro1576Arg) c.5027C>G (p.Pro1676Arg) n.5478C>G | dbSNP |
9 | g.104798458G= | CA1869915872 | ABCA1 | c.5084C= (p.Pro1695=) c.5090C= (p.Pro1697=) c.4910C= (p.Pro1637=) c.5165C= (p.Pro1722=) c.5159C= (p.Pro1720=) c.4727C= (p.Pro1576=) c.5027C= (p.Pro1676=) n.5478C= | |
9 | g.104798458G>T | CA374313989 | ABCA1 | c.5084C>A (p.Pro1695His) c.5090C>A (p.Pro1697His) c.4910C>A (p.Pro1637His) c.5165C>A (p.Pro1722His) c.5159C>A (p.Pro1720His) c.4727C>A (p.Pro1576His) c.5027C>A (p.Pro1676His) n.5478C>A | |
9 | g.104798459G>A | CA5167948 | ABCA1 | c.5083C>T (p.Pro1695Ser) c.5089C>T (p.Pro1697Ser) c.4909C>T (p.Pro1637Ser) c.5164C>T (p.Pro1722Ser) c.5158C>T (p.Pro1720Ser) c.4726C>T (p.Pro1576Ser) c.5026C>T (p.Pro1676Ser) n.5477C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798459G>C | CA374313990 | ABCA1 | c.5083C>G (p.Pro1695Ala) c.5089C>G (p.Pro1697Ala) c.4909C>G (p.Pro1637Ala) c.5164C>G (p.Pro1722Ala) c.5158C>G (p.Pro1720Ala) c.4726C>G (p.Pro1576Ala) c.5026C>G (p.Pro1676Ala) n.5477C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798459G= | CA1869915877 | ABCA1 | c.5083C= (p.Pro1695=) c.5089C= (p.Pro1697=) c.4909C= (p.Pro1637=) c.5164C= (p.Pro1722=) c.5158C= (p.Pro1720=) c.4726C= (p.Pro1576=) c.5026C= (p.Pro1676=) n.5477C= | |
9 | g.104798459G>T | CA374313991 | ABCA1 | c.5083C>A (p.Pro1695Thr) c.5089C>A (p.Pro1697Thr) c.4909C>A (p.Pro1637Thr) c.5164C>A (p.Pro1722Thr) c.5158C>A (p.Pro1720Thr) c.4726C>A (p.Pro1576Thr) c.5026C>A (p.Pro1676Thr) n.5477C>A | |
9 | g.104798460C>A | CA374313992 | ABCA1 | c.5082G>T (p.Lys1694Asn) c.5088G>T (p.Lys1696Asn) c.4908G>T (p.Lys1636Asn) c.5163G>T (p.Lys1721Asn) c.5157G>T (p.Lys1719Asn) c.4725G>T (p.Lys1575Asn) c.5025G>T (p.Lys1675Asn) n.5476G>T | |
9 | g.104798460C= | CA1869915881 | ABCA1 | c.5082G= (p.Lys1694=) c.5088G= (p.Lys1696=) c.4908G= (p.Lys1636=) c.5163G= (p.Lys1721=) c.5157G= (p.Lys1719=) c.4725G= (p.Lys1575=) c.5025G= (p.Lys1675=) n.5476G= | |
9 | g.104798460C>G | CA374313993 | ABCA1 | c.5082G>C (p.Lys1694Asn) c.5088G>C (p.Lys1696Asn) c.4908G>C (p.Lys1636Asn) c.5163G>C (p.Lys1721Asn) c.5157G>C (p.Lys1719Asn) c.4725G>C (p.Lys1575Asn) c.5025G>C (p.Lys1675Asn) n.5476G>C | |
9 | g.104798460C>T | CA466503109 | ABCA1 | c.5082G>A (p.Lys1694=) c.5088G>A (p.Lys1696=) c.4908G>A (p.Lys1636=) c.5163G>A (p.Lys1721=) c.5157G>A (p.Lys1719=) c.4725G>A (p.Lys1575=) c.5025G>A (p.Lys1675=) n.5476G>A | dbSNP |
9 | g.104798461T>A | CA374313994 | ABCA1 | c.5081A>T (p.Lys1694Met) c.5087A>T (p.Lys1696Met) c.4907A>T (p.Lys1636Met) c.5162A>T (p.Lys1721Met) c.5156A>T (p.Lys1719Met) c.4724A>T (p.Lys1575Met) c.5024A>T (p.Lys1675Met) n.5475A>T | |
9 | g.104798461T>C | CA374313996 | ABCA1 | c.5081A>G (p.Lys1694Arg) c.5087A>G (p.Lys1696Arg) c.4907A>G (p.Lys1636Arg) c.5162A>G (p.Lys1721Arg) c.5156A>G (p.Lys1719Arg) c.4724A>G (p.Lys1575Arg) c.5024A>G (p.Lys1675Arg) n.5475A>G | |
9 | g.104798461T>G | CA374313995 | ABCA1 | c.5081A>C (p.Lys1694Thr) c.5087A>C (p.Lys1696Thr) c.4907A>C (p.Lys1636Thr) c.5162A>C (p.Lys1721Thr) c.5156A>C (p.Lys1719Thr) c.4724A>C (p.Lys1575Thr) c.5024A>C (p.Lys1675Thr) n.5475A>C | |
9 | g.104798462T>A | CA374313997 | ABCA1 | c.5080A>T (p.Lys1694Ter) c.5086A>T (p.Lys1696Ter) c.4906A>T (p.Lys1636Ter) c.5161A>T (p.Lys1721Ter) c.5155A>T (p.Lys1719Ter) c.4723A>T (p.Lys1575Ter) c.5023A>T (p.Lys1675Ter) n.5474A>T | |
9 | g.104798462T>C | CA374313999 | ABCA1 | c.5080A>G (p.Lys1694Glu) c.5086A>G (p.Lys1696Glu) c.4906A>G (p.Lys1636Glu) c.5161A>G (p.Lys1721Glu) c.5155A>G (p.Lys1719Glu) c.4723A>G (p.Lys1575Glu) c.5023A>G (p.Lys1675Glu) n.5474A>G | |
9 | g.104798462T>G | CA374313998 | ABCA1 | c.5080A>C (p.Lys1694Gln) c.5086A>C (p.Lys1696Gln) c.4906A>C (p.Lys1636Gln) c.5161A>C (p.Lys1721Gln) c.5155A>C (p.Lys1719Gln) c.4723A>C (p.Lys1575Gln) c.5023A>C (p.Lys1675Gln) n.5474A>C | |
9 | g.104798463C>A | CA466503110 | ABCA1 | c.5079G>T (p.Val1693=) c.5085G>T (p.Val1695=) c.4905G>T (p.Val1635=) c.5160G>T (p.Val1720=) c.5154G>T (p.Val1718=) c.4722G>T (p.Val1574=) c.5022G>T (p.Val1674=) n.5473G>T | |
9 | g.104798463C= | CA1869915883 | ABCA1 | c.5079G= (p.Val1693=) c.5085G= (p.Val1695=) c.4905G= (p.Val1635=) c.5160G= (p.Val1720=) c.5154G= (p.Val1718=) c.4722G= (p.Val1574=) c.5022G= (p.Val1674=) n.5473G= | |
9 | g.104798463C>G | CA466503111 | ABCA1 | c.5079G>C (p.Val1693=) c.5085G>C (p.Val1695=) c.4905G>C (p.Val1635=) c.5160G>C (p.Val1720=) c.5154G>C (p.Val1718=) c.4722G>C (p.Val1574=) c.5022G>C (p.Val1674=) n.5473G>C | |
9 | g.104798463C>T | CA5167949 | ABCA1 | c.5079G>A (p.Val1693=) c.5085G>A (p.Val1695=) c.4905G>A (p.Val1635=) c.5160G>A (p.Val1720=) c.5154G>A (p.Val1718=) c.4722G>A (p.Val1574=) c.5022G>A (p.Val1674=) n.5473G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798464A>C | CA374314000 | ABCA1 | c.5078T>G (p.Val1693Gly) c.5084T>G (p.Val1695Gly) c.4904T>G (p.Val1635Gly) c.5159T>G (p.Val1720Gly) c.5153T>G (p.Val1718Gly) c.4721T>G (p.Val1574Gly) c.5021T>G (p.Val1674Gly) n.5472T>G | |
9 | g.104798464A>G | CA374314001 | ABCA1 | c.5078T>C (p.Val1693Ala) c.5084T>C (p.Val1695Ala) c.4904T>C (p.Val1635Ala) c.5159T>C (p.Val1720Ala) c.5153T>C (p.Val1718Ala) c.4721T>C (p.Val1574Ala) c.5021T>C (p.Val1674Ala) n.5472T>C | |
9 | g.104798464A>T | CA374314002 | ABCA1 | c.5078T>A (p.Val1693Glu) c.5084T>A (p.Val1695Glu) c.4904T>A (p.Val1635Glu) c.5159T>A (p.Val1720Glu) c.5153T>A (p.Val1718Glu) c.4721T>A (p.Val1574Glu) c.5021T>A (p.Val1674Glu) n.5472T>A | |
9 | g.104798465C>A | CA374314003 | ABCA1 | c.5077G>T (p.Val1693Leu) c.5083G>T (p.Val1695Leu) c.4903G>T (p.Val1635Leu) c.5158G>T (p.Val1720Leu) c.5152G>T (p.Val1718Leu) c.4720G>T (p.Val1574Leu) c.5020G>T (p.Val1674Leu) n.5471G>T | |
9 | g.104798465C>G | CA374314004 | ABCA1 | c.5077G>C (p.Val1693Leu) c.5083G>C (p.Val1695Leu) c.4903G>C (p.Val1635Leu) c.5158G>C (p.Val1720Leu) c.5152G>C (p.Val1718Leu) c.4720G>C (p.Val1574Leu) c.5020G>C (p.Val1674Leu) n.5471G>C | |
9 | g.104798465C>T | CA374314005 | ABCA1 | c.5077G>A (p.Val1693Met) c.5083G>A (p.Val1695Met) c.4903G>A (p.Val1635Met) c.5158G>A (p.Val1720Met) c.5152G>A (p.Val1718Met) c.4720G>A (p.Val1574Met) c.5020G>A (p.Val1674Met) n.5471G>A | gnomAD v4 |
9 | g.104798466T>A | CA466503112 | ABCA1 | c.5076A>T (p.Gly1692=) c.5082A>T (p.Gly1694=) c.4902A>T (p.Gly1634=) c.5157A>T (p.Gly1719=) c.5151A>T (p.Gly1717=) c.4719A>T (p.Gly1573=) c.5019A>T (p.Gly1673=) n.5470A>T | |
9 | g.104798466T>C | CA466503113 | ABCA1 | c.5076A>G (p.Gly1692=) c.5082A>G (p.Gly1694=) c.4902A>G (p.Gly1634=) c.5157A>G (p.Gly1719=) c.5151A>G (p.Gly1717=) c.4719A>G (p.Gly1573=) c.5019A>G (p.Gly1673=) n.5470A>G | gnomAD v4 |
9 | g.104798466T>G | CA466503114 | ABCA1 | c.5076A>C (p.Gly1692=) c.5082A>C (p.Gly1694=) c.4902A>C (p.Gly1634=) c.5157A>C (p.Gly1719=) c.5151A>C (p.Gly1717=) c.4719A>C (p.Gly1573=) c.5019A>C (p.Gly1673=) n.5470A>C | gnomAD v4 |
9 | g.104798467C>A | CA374314006 | ABCA1 | c.5075G>T (p.Gly1692Val) c.5081G>T (p.Gly1694Val) c.4901G>T (p.Gly1634Val) c.5156G>T (p.Gly1719Val) c.5150G>T (p.Gly1717Val) c.4718G>T (p.Gly1573Val) c.5018G>T (p.Gly1673Val) n.5469G>T | |
9 | g.104798467C= | CA1869915890 | ABCA1 | c.5075G= (p.Gly1692=) c.5081G= (p.Gly1694=) c.4901G= (p.Gly1634=) c.5156G= (p.Gly1719=) c.5150G= (p.Gly1717=) c.4718G= (p.Gly1573=) c.5018G= (p.Gly1673=) n.5469G= | |
9 | g.104798467C>G | CA374314007 | ABCA1 | c.5075G>C (p.Gly1692Ala) c.5081G>C (p.Gly1694Ala) c.4901G>C (p.Gly1634Ala) c.5156G>C (p.Gly1719Ala) c.5150G>C (p.Gly1717Ala) c.4718G>C (p.Gly1573Ala) c.5018G>C (p.Gly1673Ala) n.5469G>C | |
9 | g.104798467C>T | CA374314008 | ABCA1 | c.5075G>A (p.Gly1692Glu) c.5081G>A (p.Gly1694Glu) c.4901G>A (p.Gly1634Glu) c.5156G>A (p.Gly1719Glu) c.5150G>A (p.Gly1717Glu) c.4718G>A (p.Gly1573Glu) c.5018G>A (p.Gly1673Glu) n.5469G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104798468C>A | CA374314009 | ABCA1 | c.5074G>T (p.Gly1692Ter) c.5080G>T (p.Gly1694Ter) c.4900G>T (p.Gly1634Ter) c.5155G>T (p.Gly1719Ter) c.5149G>T (p.Gly1717Ter) c.4717G>T (p.Gly1573Ter) c.5017G>T (p.Gly1673Ter) n.5468G>T | |
9 | g.104798468C>G | CA374314010 | ABCA1 | c.5074G>C (p.Gly1692Arg) c.5080G>C (p.Gly1694Arg) c.4900G>C (p.Gly1634Arg) c.5155G>C (p.Gly1719Arg) c.5149G>C (p.Gly1717Arg) c.4717G>C (p.Gly1573Arg) c.5017G>C (p.Gly1673Arg) n.5468G>C | |
9 | g.104798468C>T | CA374314011 | ABCA1 | c.5074G>A (p.Gly1692Arg) c.5080G>A (p.Gly1694Arg) c.4900G>A (p.Gly1634Arg) c.5155G>A (p.Gly1719Arg) c.5149G>A (p.Gly1717Arg) c.4717G>A (p.Gly1573Arg) c.5017G>A (p.Gly1673Arg) n.5468G>A | |
9 | g.104798469A>C | CA374314012 | ABCA1 | c.5073T>G (p.Ser1691Arg) c.5079T>G (p.Ser1693Arg) c.4899T>G (p.Ser1633Arg) c.5154T>G (p.Ser1718Arg) c.5148T>G (p.Ser1716Arg) c.4716T>G (p.Ser1572Arg) c.5016T>G (p.Ser1672Arg) n.5467T>G | |
9 | g.104798469A>G | CA466503115 | ABCA1 | c.5073T>C (p.Ser1691=) c.5079T>C (p.Ser1693=) c.4899T>C (p.Ser1633=) c.5154T>C (p.Ser1718=) c.5148T>C (p.Ser1716=) c.4716T>C (p.Ser1572=) c.5016T>C (p.Ser1672=) n.5467T>C | |
9 | g.104798469A>T | CA374314013 | ABCA1 | c.5073T>A (p.Ser1691Arg) c.5079T>A (p.Ser1693Arg) c.4899T>A (p.Ser1633Arg) c.5154T>A (p.Ser1718Arg) c.5148T>A (p.Ser1716Arg) c.4716T>A (p.Ser1572Arg) c.5016T>A (p.Ser1672Arg) n.5467T>A | |
9 | g.104798470C>A | CA374314014 | ABCA1 | c.5072G>T (p.Ser1691Ile) c.5078G>T (p.Ser1693Ile) c.4898G>T (p.Ser1633Ile) c.5153G>T (p.Ser1718Ile) c.5147G>T (p.Ser1716Ile) c.4715G>T (p.Ser1572Ile) c.5015G>T (p.Ser1672Ile) n.5466G>T | |
9 | g.104798470C>G | CA374314015 | ABCA1 | c.5072G>C (p.Ser1691Thr) c.5078G>C (p.Ser1693Thr) c.4898G>C (p.Ser1633Thr) c.5153G>C (p.Ser1718Thr) c.5147G>C (p.Ser1716Thr) c.4715G>C (p.Ser1572Thr) c.5015G>C (p.Ser1672Thr) n.5466G>C | |
9 | g.104798470C>T | CA374314016 | ABCA1 | c.5072G>A (p.Ser1691Asn) c.5078G>A (p.Ser1693Asn) c.4898G>A (p.Ser1633Asn) c.5153G>A (p.Ser1718Asn) c.5147G>A (p.Ser1716Asn) c.4715G>A (p.Ser1572Asn) c.5015G>A (p.Ser1672Asn) n.5466G>A | |
9 | g.104798471T>A | CA374314017 | ABCA1 | c.5071A>T (p.Ser1691Cys) c.5077A>T (p.Ser1693Cys) c.4897A>T (p.Ser1633Cys) c.5152A>T (p.Ser1718Cys) c.5146A>T (p.Ser1716Cys) c.4714A>T (p.Ser1572Cys) c.5014A>T (p.Ser1672Cys) n.5465A>T | |
9 | g.104798471T>C | CA374314018 | ABCA1 | c.5071A>G (p.Ser1691Gly) c.5077A>G (p.Ser1693Gly) c.4897A>G (p.Ser1633Gly) c.5152A>G (p.Ser1718Gly) c.5146A>G (p.Ser1716Gly) c.4714A>G (p.Ser1572Gly) c.5014A>G (p.Ser1672Gly) n.5465A>G | |
9 | g.104798471T>G | CA374314019 | ABCA1 | c.5071A>C (p.Ser1691Arg) c.5077A>C (p.Ser1693Arg) c.4897A>C (p.Ser1633Arg) c.5152A>C (p.Ser1718Arg) c.5146A>C (p.Ser1716Arg) c.4714A>C (p.Ser1572Arg) c.5014A>C (p.Ser1672Arg) n.5465A>C | |
9 | g.104798472G>A | CA466503116 | ABCA1 | c.5070C>T (p.Ile1690=) c.5076C>T (p.Ile1692=) c.4896C>T (p.Ile1632=) c.5151C>T (p.Ile1717=) c.5145C>T (p.Ile1715=) c.4713C>T (p.Ile1571=) c.5013C>T (p.Ile1671=) n.5464C>T | gnomAD v4 |
9 | g.104798472G>C | CA374314020 | ABCA1 | c.5070C>G (p.Ile1690Met) c.5076C>G (p.Ile1692Met) c.4896C>G (p.Ile1632Met) c.5151C>G (p.Ile1717Met) c.5145C>G (p.Ile1715Met) c.4713C>G (p.Ile1571Met) c.5013C>G (p.Ile1671Met) n.5464C>G | |
9 | g.104798472G>T | CA466503117 | ABCA1 | c.5070C>A (p.Ile1690=) c.5076C>A (p.Ile1692=) c.4896C>A (p.Ile1632=) c.5151C>A (p.Ile1717=) c.5145C>A (p.Ile1715=) c.4713C>A (p.Ile1571=) c.5013C>A (p.Ile1671=) n.5464C>A | |
9 | g.104798473A>C | CA374314021 | ABCA1 | c.5069T>G (p.Ile1690Ser) c.5075T>G (p.Ile1692Ser) c.4895T>G (p.Ile1632Ser) c.5150T>G (p.Ile1717Ser) c.5144T>G (p.Ile1715Ser) c.4712T>G (p.Ile1571Ser) c.5012T>G (p.Ile1671Ser) n.5463T>G | gnomAD v4 |
9 | g.104798473A>G | CA374314022 | ABCA1 | c.5069T>C (p.Ile1690Thr) c.5075T>C (p.Ile1692Thr) c.4895T>C (p.Ile1632Thr) c.5150T>C (p.Ile1717Thr) c.5144T>C (p.Ile1715Thr) c.4712T>C (p.Ile1571Thr) c.5012T>C (p.Ile1671Thr) n.5463T>C | |
9 | g.104798473A>T | CA374314023 | ABCA1 | c.5069T>A (p.Ile1690Asn) c.5075T>A (p.Ile1692Asn) c.4895T>A (p.Ile1632Asn) c.5150T>A (p.Ile1717Asn) c.5144T>A (p.Ile1715Asn) c.4712T>A (p.Ile1571Asn) c.5012T>A (p.Ile1671Asn) n.5463T>A | |
9 | g.104798474T>A | CA374314025 | ABCA1 | c.5068A>T (p.Ile1690Phe) c.5074A>T (p.Ile1692Phe) c.4894A>T (p.Ile1632Phe) c.5149A>T (p.Ile1717Phe) c.5143A>T (p.Ile1715Phe) c.4711A>T (p.Ile1571Phe) c.5011A>T (p.Ile1671Phe) n.5462A>T | |
9 | g.104798474T>C | CA5167950 | ABCA1 | c.5068A>G (p.Ile1690Val) c.5074A>G (p.Ile1692Val) c.4894A>G (p.Ile1632Val) c.5149A>G (p.Ile1717Val) c.5143A>G (p.Ile1715Val) c.4711A>G (p.Ile1571Val) c.5011A>G (p.Ile1671Val) n.5462A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798474T>G | CA374314024 | ABCA1 | c.5068A>C (p.Ile1690Leu) c.5074A>C (p.Ile1692Leu) c.4894A>C (p.Ile1632Leu) c.5149A>C (p.Ile1717Leu) c.5143A>C (p.Ile1715Leu) c.4711A>C (p.Ile1571Leu) c.5011A>C (p.Ile1671Leu) n.5462A>C | |
9 | g.104798474T= | CA1869915900 | ABCA1 | c.5068A= (p.Ile1690=) c.5074A= (p.Ile1692=) c.4894A= (p.Ile1632=) c.5149A= (p.Ile1717=) c.5143A= (p.Ile1715=) c.4711A= (p.Ile1571=) c.5011A= (p.Ile1671=) n.5462A= | |
9 | g.104798475G>A | CA466503118 | ABCA1 | c.5067C>T (p.Phe1689=) c.5073C>T (p.Phe1691=) c.4893C>T (p.Phe1631=) c.5148C>T (p.Phe1716=) c.5142C>T (p.Phe1714=) c.4710C>T (p.Phe1570=) c.5010C>T (p.Phe1670=) n.5461C>T | |
9 | g.104798475G>C | CA374314026 | ABCA1 | c.5067C>G (p.Phe1689Leu) c.5073C>G (p.Phe1691Leu) c.4893C>G (p.Phe1631Leu) c.5148C>G (p.Phe1716Leu) c.5142C>G (p.Phe1714Leu) c.4710C>G (p.Phe1570Leu) c.5010C>G (p.Phe1670Leu) n.5461C>G | |
9 | g.104798475G>T | CA374314027 | ABCA1 | c.5067C>A (p.Phe1689Leu) c.5073C>A (p.Phe1691Leu) c.4893C>A (p.Phe1631Leu) c.5148C>A (p.Phe1716Leu) c.5142C>A (p.Phe1714Leu) c.4710C>A (p.Phe1570Leu) c.5010C>A (p.Phe1670Leu) n.5461C>A | |
9 | g.104798476A>C | CA374314028 | ABCA1 | c.5066T>G (p.Phe1689Cys) c.5072T>G (p.Phe1691Cys) c.4892T>G (p.Phe1631Cys) c.5147T>G (p.Phe1716Cys) c.5141T>G (p.Phe1714Cys) c.4709T>G (p.Phe1570Cys) c.5009T>G (p.Phe1670Cys) n.5460T>G | |
9 | g.104798476A>G | CA374314029 | ABCA1 | c.5066T>C (p.Phe1689Ser) c.5072T>C (p.Phe1691Ser) c.4892T>C (p.Phe1631Ser) c.5147T>C (p.Phe1716Ser) c.5141T>C (p.Phe1714Ser) c.4709T>C (p.Phe1570Ser) c.5009T>C (p.Phe1670Ser) n.5460T>C | |
9 | g.104798476A>T | CA374314030 | ABCA1 | c.5066T>A (p.Phe1689Tyr) c.5072T>A (p.Phe1691Tyr) c.4892T>A (p.Phe1631Tyr) c.5147T>A (p.Phe1716Tyr) c.5141T>A (p.Phe1714Tyr) c.4709T>A (p.Phe1570Tyr) c.5009T>A (p.Phe1670Tyr) n.5460T>A | ClinVar gnomAD v4 |
9 | g.104798477A>C | CA374314031 | ABCA1 | c.5065T>G (p.Phe1689Val) c.5071T>G (p.Phe1691Val) c.4891T>G (p.Phe1631Val) c.5146T>G (p.Phe1716Val) c.5140T>G (p.Phe1714Val) c.4708T>G (p.Phe1570Val) c.5008T>G (p.Phe1670Val) n.5459T>G | |
9 | g.104798477A>G | CA374314032 | ABCA1 | c.5065T>C (p.Phe1689Leu) c.5071T>C (p.Phe1691Leu) c.4891T>C (p.Phe1631Leu) c.5146T>C (p.Phe1716Leu) c.5140T>C (p.Phe1714Leu) c.4708T>C (p.Phe1570Leu) c.5008T>C (p.Phe1670Leu) n.5459T>C | |
9 | g.104798477A>T | CA374314033 | ABCA1 | c.5065T>A (p.Phe1689Ile) c.5071T>A (p.Phe1691Ile) c.4891T>A (p.Phe1631Ile) c.5146T>A (p.Phe1716Ile) c.5140T>A (p.Phe1714Ile) c.4708T>A (p.Phe1570Ile) c.5008T>A (p.Phe1670Ile) n.5459T>A | |
9 | g.104798478C>A | CA374314034 | ABCA1 | c.5064G>T (p.Gln1688His) c.5070G>T (p.Gln1690His) c.4890G>T (p.Gln1630His) c.5145G>T (p.Gln1715His) c.5139G>T (p.Gln1713His) c.4707G>T (p.Gln1569His) c.5007G>T (p.Gln1669His) n.5458G>T | |
9 | g.104798478C>G | CA374314035 | ABCA1 | c.5064G>C (p.Gln1688His) c.5070G>C (p.Gln1690His) c.4890G>C (p.Gln1630His) c.5145G>C (p.Gln1715His) c.5139G>C (p.Gln1713His) c.4707G>C (p.Gln1569His) c.5007G>C (p.Gln1669His) n.5458G>C | |
9 | g.104798478C>T | CA466503119 | ABCA1 | c.5064G>A (p.Gln1688=) c.5070G>A (p.Gln1690=) c.4890G>A (p.Gln1630=) c.5145G>A (p.Gln1715=) c.5139G>A (p.Gln1713=) c.4707G>A (p.Gln1569=) c.5007G>A (p.Gln1669=) n.5458G>A |