Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.93996107A= | CA1141241377 | ABCA4 | c.6816+2T= (n.6816+2T=) c.3192+2T= (n.3192+2T=) | |
1 | g.93996107A>C | CA341275662 | ABCA4 | c.6816+2T>G (n.6816+2T>G) c.3192+2T>G (n.3192+2T>G) | |
1 | g.93996107A>G | CA26827279 | ABCA4 | c.6816+2T>C (n.6816+2T>C) c.3192+2T>C (n.3192+2T>C) | dbSNP |
1 | g.93996107A>T | CA16621567 | ABCA4 | c.6816+2T>A (n.6816+2T>A) c.3192+2T>A (n.3192+2T>A) | ClinVar dbSNP |
1 | g.93996108C>A | CA956783 | ABCA4 | c.6816+1G>T (n.6816+1G>T) c.3192+1G>T (n.3192+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93996108C= | CA1181405771 | ABCA4 | c.6816+1G= (n.6816+1G=) c.3192+1G= (n.3192+1G=) | |
1 | g.93996108C>G | CA341275663 | ABCA4 | c.6816+1G>C (n.6816+1G>C) c.3192+1G>C (n.3192+1G>C) | ClinVar |
1 | g.93996108C>T | CA16042403 | ABCA4 | c.6816+1G>A (n.6816+1G>A) c.3192+1G>A (n.3192+1G>A) | ClinVar dbSNP gnomAD v2 |
1 | g.93996109C>A | CA341275664 | ABCA4 | c.6816G>T (p.Gln2272His) c.3192G>T (p.Gln1064His) | |
1 | g.93996109C>G | CA341275665 | ABCA4 | c.6816G>C (p.Gln2272His) c.3192G>C (p.Gln1064His) | |
1 | g.93996109C>T | CA418806758 | ABCA4 | c.6816G>A (p.Gln2272=) c.3192G>A (p.Gln1064=) | |
1 | g.93996110T>A | CA341275666 | ABCA4 | c.6815A>T (p.Gln2272Leu) c.3191A>T (p.Gln1064Leu) | |
1 | g.93996110T>C | CA956784 | ABCA4 | c.6815A>G (p.Gln2272Arg) c.3191A>G (p.Gln1064Arg) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.93996110T>G | CA341275667 | ABCA4 | c.6815A>C (p.Gln2272Pro) c.3191A>C (p.Gln1064Pro) | |
1 | g.93996110T= | CA1181405772 | ABCA4 | c.6815A= (p.Gln2272=) c.3191A= (p.Gln1064=) | |
1 | g.93996111G>A | CA341275669 | ABCA4 | c.6814C>T (p.Gln2272Ter) c.3190C>T (p.Gln1064Ter) | |
1 | g.93996111G>C | CA341275668 | ABCA4 | c.6814C>G (p.Gln2272Glu) c.3190C>G (p.Gln1064Glu) | |
1 | g.93996111G= | CA1181405773 | ABCA4 | c.6814C= (p.Gln2272=) c.3190C= (p.Gln1064=) | |
1 | g.93996111G>T | CA956785 | ABCA4 | c.6814C>A (p.Gln2272Lys) c.3190C>A (p.Gln1064Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93996112G>A | CA227445 | ABCA4 | c.6813C>T (p.Ala2271=) c.3189C>T (p.Ala1063=) | ClinVar dbSNP |
1 | g.93996112G>C | CA418806771 | ABCA4 | c.6813C>G (p.Ala2271=) c.3189C>G (p.Ala1063=) | |
1 | g.93996112G= | CA1143538144 | ABCA4 | c.6813C= (p.Ala2271=) c.3189C= (p.Ala1063=) | |
1 | g.93996112G>T | CA418806773 | ABCA4 | c.6813C>A (p.Ala2271=) c.3189C>A (p.Ala1063=) | |
1 | g.93996113G>A | CA341275670 | ABCA4 | c.6812C>T (p.Ala2271Val) c.3188C>T (p.Ala1063Val) | |
1 | g.93996113G>C | CA341275671 | ABCA4 | c.6812C>G (p.Ala2271Gly) c.3188C>G (p.Ala1063Gly) | dbSNP |
1 | g.93996113G>T | CA341275672 | ABCA4 | c.6812C>A (p.Ala2271Asp) c.3188C>A (p.Ala1063Asp) | |
1 | g.93996114C>A | CA341275673 | ABCA4 | c.6811G>T (p.Ala2271Ser) c.3187G>T (p.Ala1063Ser) | |
1 | g.93996114C>G | CA341275674 | ABCA4 | c.6811G>C (p.Ala2271Pro) c.3187G>C (p.Ala1063Pro) | |
1 | g.93996114C>T | CA341275675 | ABCA4 | c.6811G>A (p.Ala2271Thr) c.3187G>A (p.Ala1063Thr) | gnomAD v4 |
1 | g.93996115T>A | CA341275676 | ABCA4 | c.6810A>T (p.Gln2270His) c.3186A>T (p.Gln1062His) | |
1 | g.93996115T>C | CA418806789 | ABCA4 | c.6810A>G (p.Gln2270=) c.3186A>G (p.Gln1062=) | |
1 | g.93996115T>G | CA341275677 | ABCA4 | c.6810A>C (p.Gln2270His) c.3186A>C (p.Gln1062His) | |
1 | g.93996116T>A | CA341275678 | ABCA4 | c.6809A>T (p.Gln2270Leu) c.3185A>T (p.Gln1062Leu) | |
1 | g.93996116T>C | CA341275679 | ABCA4 | c.6809A>G (p.Gln2270Arg) c.3185A>G (p.Gln1062Arg) | gnomAD v4 |
1 | g.93996116T>G | CA341275680 | ABCA4 | c.6809A>C (p.Gln2270Pro) c.3185A>C (p.Gln1062Pro) | |
1 | g.93996117G>A | CA341275683 | ABCA4 | c.6808C>T (p.Gln2270Ter) c.3184C>T (p.Gln1062Ter) | |
1 | g.93996117G>C | CA341275682 | ABCA4 | c.6808C>G (p.Gln2270Glu) c.3184C>G (p.Gln1062Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.93996117G= | CA1181405774 | ABCA4 | c.6808C= (p.Gln2270=) c.3184C= (p.Gln1062=) | |
1 | g.93996117G>T | CA341275681 | ABCA4 | c.6808C>A (p.Gln2270Lys) c.3184C>A (p.Gln1062Lys) | |
1 | g.93996118T>A | CA418806801 | ABCA4 | c.6807A>T (p.Arg2269=) c.3183A>T (p.Arg1061=) | |
1 | g.93996118T>C | CA418806800 | ABCA4 | c.6807A>G (p.Arg2269=) c.3183A>G (p.Arg1061=) | |
1 | g.93996118T>G | CA418806799 | ABCA4 | c.6807A>C (p.Arg2269=) c.3183A>C (p.Arg1061=) | |
1 | g.93996119C>A | CA341275685 | ABCA4 | c.6806G>T (p.Arg2269Leu) c.3182G>T (p.Arg1061Leu) | |
1 | g.93996119C= | CA1143534161 | ABCA4 | c.6806G= (p.Arg2269=) c.3182G= (p.Arg1061=) | |
1 | g.93996119C>G | CA341275684 | ABCA4 | c.6806G>C (p.Arg2269Pro) c.3182G>C (p.Arg1061Pro) | |
1 | g.93996119C>T | CA956786 | ABCA4 | c.6806G>A (p.Arg2269Gln) c.3182G>A (p.Arg1061Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93996120G>A | CA956787 | ABCA4 | c.6805C>T (p.Arg2269Ter) c.3181C>T (p.Arg1061Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93996120G>C | CA341275686 | ABCA4 | c.6805C>G (p.Arg2269Gly) c.3181C>G (p.Arg1061Gly) | |
1 | g.93996120G= | CA1143849311 | ABCA4 | c.6805C= (p.Arg2269=) c.3181C= (p.Arg1061=) | |
1 | g.93996120G>T | CA418806809 | ABCA4 | c.6805C>A (p.Arg2269=) c.3181C>A (p.Arg1061=) | gnomAD v4 |