Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94042781A>C | CA341291940 | ABCA4 | c.3308T>G (p.Leu1103Arg) c.-64-2692T>G (n.-64-2692T>G) | ClinVar |
1 | g.94042781A>G | CA341291942 | ABCA4 | c.3308T>C (p.Leu1103Pro) c.-64-2692T>C (n.-64-2692T>C) | ClinVar |
1 | g.94042781A>T | CA341291941 | ABCA4 | c.3308T>A (p.Leu1103Gln) c.-64-2692T>A (n.-64-2692T>A) | |
1 | g.94042782G>A | CA418826459 | ABCA4 | c.3307C>T (p.Leu1103=) c.-64-2693C>T (n.-64-2693C>T) | |
1 | g.94042782G>C | CA341291943 | ABCA4 | c.3307C>G (p.Leu1103Val) c.-64-2693C>G (n.-64-2693C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94042782G= | CA1181420646 | ABCA4 | c.3307C= (p.Leu1103=) c.-64-2693C= (n.-64-2693C=) | |
1 | g.94042782G>T | CA341291945 | ABCA4 | c.3307C>A (p.Leu1103Met) c.-64-2693C>A (n.-64-2693C>A) | |
1 | g.94042783A= | CA1181420647 | ABCA4 | c.3306T= (p.Asp1102=) c.-64-2694T= (n.-64-2694T=) | |
1 | g.94042783A>C | CA341291948 | ABCA4 | c.3306T>G (p.Asp1102Glu) c.-64-2694T>G (n.-64-2694T>G) | dbSNP gnomAD v4 |
1 | g.94042783A>G | CA418826461 | ABCA4 | c.3306T>C (p.Asp1102=) c.-64-2694T>C (n.-64-2694T>C) | |
1 | g.94042783A>T | CA341291950 | ABCA4 | c.3306T>A (p.Asp1102Glu) c.-64-2694T>A (n.-64-2694T>A) | |
1 | g.94042784T>A | CA957986 | ABCA4 | c.3305A>T (p.Asp1102Val) c.-64-2695A>T (n.-64-2695A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94042784T>C | CA26865409 | ABCA4 | c.3305A>G (p.Asp1102Gly) c.-64-2695A>G (n.-64-2695A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94042784T>G | CA16617207 | ABCA4 | c.3305A>C (p.Asp1102Ala) c.-64-2695A>C (n.-64-2695A>C) | ClinVar dbSNP |
1 | g.94042784T= | CA1141945220 | ABCA4 | c.3305A= (p.Asp1102=) c.-64-2695A= (n.-64-2695A=) | |
1 | g.94042785C>A | CA957987 | ABCA4 | c.3304G>T (p.Asp1102Tyr) c.-64-2696G>T (n.-64-2696G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94042785C= | CA1141630609 | ABCA4 | c.3304G= (p.Asp1102=) c.-64-2696G= (n.-64-2696G=) | |
1 | g.94042785C>G | CA341291968 | ABCA4 | c.3304G>C (p.Asp1102His) c.-64-2696G>C (n.-64-2696G>C) | |
1 | g.94042785C>T | CA957988 | ABCA4 | c.3304G>A (p.Asp1102Asn) c.-64-2696G>A (n.-64-2696G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94042786C>A | CA341291972 | ABCA4 | c.3303G>T (p.Trp1101Cys) c.-64-2697G>T (n.-64-2697G>T) | |
1 | g.94042786C= | CA1140725850 | ABCA4 | c.3303G= (p.Trp1101=) c.-64-2697G= (n.-64-2697G=) | |
1 | g.94042786C>G | CA341291974 | ABCA4 | c.3303G>C (p.Trp1101Cys) c.-64-2697G>C (n.-64-2697G>C) | |
1 | g.94042786C>T | CA227107 | ABCA4 | c.3303G>A (p.Trp1101Ter) c.-64-2697G>A (n.-64-2697G>A) | ClinVar dbSNP |
1 | g.94042787C>A | CA341291978 | ABCA4 | c.3302G>T (p.Trp1101Leu) c.-64-2698G>T (n.-64-2698G>T) | |
1 | g.94042787C= | CA1143957015 | ABCA4 | c.3302G= (p.Trp1101=) c.-64-2698G= (n.-64-2698G=) | |
1 | g.94042787C>G | CA341291977 | ABCA4 | c.3302G>C (p.Trp1101Ser) c.-64-2698G>C (n.-64-2698G>C) | |
1 | g.94042787C>T | CA957989 | ABCA4 | c.3302G>A (p.Trp1101Ter) c.-64-2698G>A (n.-64-2698G>A) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.94042788A>C | CA341291980 | ABCA4 | c.3301T>G (p.Trp1101Gly) c.-64-2699T>G (n.-64-2699T>G) | gnomAD v4 |
1 | g.94042788A>G | CA341291982 | ABCA4 | c.3301T>C (p.Trp1101Arg) c.-64-2699T>C (n.-64-2699T>C) | |
1 | g.94042788A>T | CA341291984 | ABCA4 | c.3301T>A (p.Trp1101Arg) c.-64-2699T>A (n.-64-2699T>A) | |
1 | g.94042789G>A | CA418826471 | ABCA4 | c.3300C>T (p.Ile1100=) c.-64-2700C>T (n.-64-2700C>T) | |
1 | g.94042789G>C | CA341291987 | ABCA4 | c.3300C>G (p.Ile1100Met) c.-64-2700C>G (n.-64-2700C>G) | ClinVar dbSNP |
1 | g.94042789G>T | CA418826469 | ABCA4 | c.3300C>A (p.Ile1100=) c.-64-2700C>A (n.-64-2700C>A) | |
1 | g.94042790A= | CA1181420648 | ABCA4 | c.3299T= (p.Ile1100=) c.-64-2701T= (n.-64-2701T=) | |
1 | g.94042790A>C | CA341291992 | ABCA4 | c.3299T>G (p.Ile1100Ser) c.-64-2701T>G (n.-64-2701T>G) | |
1 | g.94042790A>G | CA341291994 | ABCA4 | c.3299T>C (p.Ile1100Thr) c.-64-2701T>C (n.-64-2701T>C) | ClinVar dbSNP |
1 | g.94042790A>T | CA341291996 | ABCA4 | c.3299T>A (p.Ile1100Asn) c.-64-2701T>A (n.-64-2701T>A) | ClinVar dbSNP gnomAD v4 |
1 | g.94042791T>A | CA341291999 | ABCA4 | c.3298A>T (p.Ile1100Phe) c.-64-2702A>T (n.-64-2702A>T) | |
1 | g.94042791T>C | CA957990 | ABCA4 | c.3298A>G (p.Ile1100Val) c.-64-2702A>G (n.-64-2702A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94042791T>G | CA341292008 | ABCA4 | c.3298A>C (p.Ile1100Leu) c.-64-2702A>C (n.-64-2702A>C) | |
1 | g.94042791T= | CA1147689998 | ABCA4 | c.3298A= (p.Ile1100=) c.-64-2702A= (n.-64-2702A=) | |
1 | g.94042792T>A | CA418826474 | ABCA4 | c.3297A>T (p.Ser1099=) c.-64-2703A>T (n.-64-2703A>T) | |
1 | g.94042792T>C | CA418826475 | ABCA4 | c.3297A>G (p.Ser1099=) c.-64-2703A>G (n.-64-2703A>G) | |
1 | g.94042792T>G | CA957991 | ABCA4 | c.3297A>C (p.Ser1099=) c.-64-2703A>C (n.-64-2703A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94042792T= | CA1142269924 | ABCA4 | c.3297A= (p.Ser1099=) c.-64-2703A= (n.-64-2703A=) | |
1 | g.94042793G>A | CA957992 | ABCA4 | c.3296C>T (p.Ser1099Leu) c.-64-2704C>T (n.-64-2704C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94042793G>C | CA341292011 | ABCA4 | c.3296C>G (p.Ser1099Ter) c.-64-2704C>G (n.-64-2704C>G) | ClinVar dbSNP |
1 | g.94042793G= | CA1181420649 | ABCA4 | c.3296C= (p.Ser1099=) c.-64-2704C= (n.-64-2704C=) | |
1 | g.94042793G>T | CA341292010 | ABCA4 | c.3296C>A (p.Ser1099Ter) c.-64-2704C>A (n.-64-2704C>A) | gnomAD v4 |
1 | g.94042794A= | CA1140725851 | ABCA4 | c.3295T= (p.Ser1099=) c.-64-2705T= (n.-64-2705T=) |