UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94046959C>A | CA341275363 | ABCA4 | c.2878G>T (p.Ala960Ser) c.2656G>T (p.Ala886Ser) c.-64-6870G>T (n.-64-6870G>T) | dbSNP gnomAD v2 |
| 1 | g.94046959C= | CA1181422597 | ABCA4 | c.2878G= (p.Ala960=) c.2656G= (p.Ala886=) c.-64-6870G= (n.-64-6870G=) | |
| 1 | g.94046959C>G | CA341275364 | ABCA4 | c.2878G>C (p.Ala960Pro) c.2656G>C (p.Ala886Pro) c.-64-6870G>C (n.-64-6870G>C) | |
| 1 | g.94046959C>T | CA958128 | ABCA4 | c.2878G>A (p.Ala960Thr) c.2656G>A (p.Ala886Thr) c.-64-6870G>A (n.-64-6870G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94046960G>A | CA227045 | ABCA4 | c.2877C>T (p.Thr959=) c.2655C>T (p.Thr885=) c.-64-6871C>T (n.-64-6871C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94046960G>C | CA418811544 | ABCA4 | c.2877C>G (p.Thr959=) c.2655C>G (p.Thr885=) c.-64-6871C>G (n.-64-6871C>G) | ClinVar |
| 1 | g.94046960G= | CA1140725906 | ABCA4 | c.2877C= (p.Thr959=) c.2655C= (p.Thr885=) c.-64-6871C= (n.-64-6871C=) | |
| 1 | g.94046960G>T | CA418811546 | ABCA4 | c.2877C>A (p.Thr959=) c.2655C>A (p.Thr885=) c.-64-6871C>A (n.-64-6871C>A) | dbSNP |
| 1 | g.94046966_94046986del | CA2740090230 | ABCA4 | c.2857_2877del (p.Phe953_Thr959del) c.2635_2655del (p.Phe879_Thr885del) c.-64-6891_-64-6871del (n.-64-6891_-64-6871del) | ClinVar |
| 1 | g.94046961G>A | CA227044 | ABCA4 | c.2876C>T (p.Thr959Ile) c.2654C>T (p.Thr885Ile) c.-64-6872C>T (n.-64-6872C>T) | ClinVar dbSNP |
| 1 | g.94046961G>C | CA341275365 | ABCA4 | c.2876C>G (p.Thr959Ser) c.2654C>G (p.Thr885Ser) c.-64-6872C>G (n.-64-6872C>G) | |
| 1 | g.94046961G= | CA1140725908 | ABCA4 | c.2876C= (p.Thr959=) c.2654C= (p.Thr885=) c.-64-6872C= (n.-64-6872C=) | |
| 1 | g.94046961G>T | CA341275366 | ABCA4 | c.2876C>A (p.Thr959Asn) c.2654C>A (p.Thr885Asn) c.-64-6872C>A (n.-64-6872C>A) | |
| 1 | g.94046962T>A | CA958129 | ABCA4 | c.2875A>T (p.Thr959Ser) c.2653A>T (p.Thr885Ser) c.-64-6873A>T (n.-64-6873A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94046962T>C | CA958130 | ABCA4 | c.2875A>G (p.Thr959Ala) c.2653A>G (p.Thr885Ala) c.-64-6873A>G (n.-64-6873A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94046962T>G | CA341275367 | ABCA4 | c.2875A>C (p.Thr959Pro) c.2653A>C (p.Thr885Pro) c.-64-6873A>C (n.-64-6873A>C) | |
| 1 | g.94046962T= | CA1143624058 | ABCA4 | c.2875A= (p.Thr959=) c.2653A= (p.Thr885=) c.-64-6873A= (n.-64-6873A=) | |
| 1 | g.94046963G>A | CA418811573 | ABCA4 | c.2874C>T (p.Ile958=) c.2652C>T (p.Ile884=) c.-64-6874C>T (n.-64-6874C>T) | gnomAD v4 |
| 1 | g.94046963G>C | CA341275368 | ABCA4 | c.2874C>G (p.Ile958Met) c.2652C>G (p.Ile884Met) c.-64-6874C>G (n.-64-6874C>G) | |
| 1 | g.94046963G= | CA1181422598 | ABCA4 | c.2874C= (p.Ile958=) c.2652C= (p.Ile884=) c.-64-6874C= (n.-64-6874C=) | |
| 1 | g.94046963G>T | CA418811571 | ABCA4 | c.2874C>A (p.Ile958=) c.2652C>A (p.Ile884=) c.-64-6874C>A (n.-64-6874C>A) | dbSNP gnomAD v4 |
| 1 | g.94046964A= | CA1181422599 | ABCA4 | c.2873T= (p.Ile958=) c.2651T= (p.Ile884=) c.-64-6875T= (n.-64-6875T=) | |
| 1 | g.94046964A>C | CA341275369 | ABCA4 | c.2873T>G (p.Ile958Ser) c.2651T>G (p.Ile884Ser) c.-64-6875T>G (n.-64-6875T>G) | |
| 1 | g.94046964A>G | CA958131 | ABCA4 | c.2873T>C (p.Ile958Thr) c.2651T>C (p.Ile884Thr) c.-64-6875T>C (n.-64-6875T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94046964A>T | CA341275370 | ABCA4 | c.2873T>A (p.Ile958Asn) c.2651T>A (p.Ile884Asn) c.-64-6875T>A (n.-64-6875T>A) | ClinVar dbSNP |
| 1 | g.94046965T>A | CA341275371 | ABCA4 | c.2872A>T (p.Ile958Phe) c.2650A>T (p.Ile884Phe) c.-64-6876A>T (n.-64-6876A>T) | gnomAD v4 |
| 1 | g.94046965T>C | CA341275372 | ABCA4 | c.2872A>G (p.Ile958Val) c.2650A>G (p.Ile884Val) c.-64-6876A>G (n.-64-6876A>G) | |
| 1 | g.94046965T>G | CA341275373 | ABCA4 | c.2872A>C (p.Ile958Leu) c.2650A>C (p.Ile884Leu) c.-64-6876A>C (n.-64-6876A>C) | |
| 1 | g.94046966C>A | CA341275374 | ABCA4 | c.2871G>T (p.Gln957His) c.2649G>T (p.Gln883His) c.-64-6877G>T (n.-64-6877G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94046966C= | CA1181422600 | ABCA4 | c.2871G= (p.Gln957=) c.2649G= (p.Gln883=) c.-64-6877G= (n.-64-6877G=) | |
| 1 | g.94046966C>G | CA341275375 | ABCA4 | c.2871G>C (p.Gln957His) c.2649G>C (p.Gln883His) c.-64-6877G>C (n.-64-6877G>C) | |
| 1 | g.94046966C>T | CA418811593 | ABCA4 | c.2871G>A (p.Gln957=) c.2649G>A (p.Gln883=) c.-64-6877G>A (n.-64-6877G>A) | |
| 1 | g.94046967T>A | CA341275376 | ABCA4 | c.2870A>T (p.Gln957Leu) c.2648A>T (p.Gln883Leu) c.-64-6878A>T (n.-64-6878A>T) | |
| 1 | g.94046967T>C | CA227043 | ABCA4 | c.2870A>G (p.Gln957Arg) c.2648A>G (p.Gln883Arg) c.-64-6878A>G (n.-64-6878A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94046967T>G | CA341275377 | ABCA4 | c.2870A>C (p.Gln957Pro) c.2648A>C (p.Gln883Pro) c.-64-6878A>C (n.-64-6878A>C) | ClinVar dbSNP |
| 1 | g.94046967T= | CA1140725909 | ABCA4 | c.2870A= (p.Gln957=) c.2648A= (p.Gln883=) c.-64-6878A= (n.-64-6878A=) | |
| 1 | g.94046968G>A | CA341275378 | ABCA4 | c.2869C>T (p.Gln957Ter) c.2647C>T (p.Gln883Ter) c.-64-6879C>T (n.-64-6879C>T) | gnomAD v4 |
| 1 | g.94046968G>C | CA341275379 | ABCA4 | c.2869C>G (p.Gln957Glu) c.2647C>G (p.Gln883Glu) c.-64-6879C>G (n.-64-6879C>G) | |
| 1 | g.94046968G= | CA1144233003 | ABCA4 | c.2869C= (p.Gln957=) c.2647C= (p.Gln883=) c.-64-6879C= (n.-64-6879C=) | |
| 1 | g.94046968G>T | CA220681 | ABCA4 | c.2869C>A (p.Gln957Lys) c.2647C>A (p.Gln883Lys) c.-64-6879C>A (n.-64-6879C>A) | ClinVar dbSNP |
| 1 | g.94046969G>A | CA418811606 | ABCA4 | c.2868C>T (p.Asn956=) c.2646C>T (p.Asn882=) c.-64-6880C>T (n.-64-6880C>T) | |
| 1 | g.94046969G>C | CA341275380 | ABCA4 | c.2868C>G (p.Asn956Lys) c.2646C>G (p.Asn882Lys) c.-64-6880C>G (n.-64-6880C>G) | |
| 1 | g.94046969G>T | CA341275381 | ABCA4 | c.2868C>A (p.Asn956Lys) c.2646C>A (p.Asn882Lys) c.-64-6880C>A (n.-64-6880C>A) | |
| 1 | g.94046970T>A | CA341275382 | ABCA4 | c.2867A>T (p.Asn956Ile) c.2645A>T (p.Asn882Ile) c.-64-6881A>T (n.-64-6881A>T) | |
| 1 | g.94046970T>C | CA341275383 | ABCA4 | c.2867A>G (p.Asn956Ser) c.2645A>G (p.Asn882Ser) c.-64-6881A>G (n.-64-6881A>G) | |
| 1 | g.94046970T>G | CA341275384 | ABCA4 | c.2867A>C (p.Asn956Thr) c.2645A>C (p.Asn882Thr) c.-64-6881A>C (n.-64-6881A>C) | |
| 1 | g.94046971T>A | CA341275385 | ABCA4 | c.2866A>T (p.Asn956Tyr) c.2644A>T (p.Asn882Tyr) c.-64-6882A>T (n.-64-6882A>T) | |
| 1 | g.94046971T>C | CA341275386 | ABCA4 | c.2866A>G (p.Asn956Asp) c.2644A>G (p.Asn882Asp) c.-64-6882A>G (n.-64-6882A>G) | |
| 1 | g.94046971T>G | CA341275387 | ABCA4 | c.2866A>C (p.Asn956His) c.2644A>C (p.Asn882His) c.-64-6882A>C (n.-64-6882A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94046971T= | CA1181422601 | ABCA4 | c.2866A= (p.Asn956=) c.2644A= (p.Asn882=) c.-64-6882A= (n.-64-6882A=) | |
| 1 | g.94046972C>A | CA341275388 | ABCA4 | c.2865G>T (p.Glu955Asp) c.2643G>T (p.Glu881Asp) c.-64-6883G>T (n.-64-6883G>T) | |
| 1 | g.94046972C= | CA1181422603 | ABCA4 | c.2865G= (p.Glu955=) c.2643G= (p.Glu881=) c.-64-6883G= (n.-64-6883G=) | |
| 1 | g.94046972C>G | CA341275389 | ABCA4 | c.2865G>C (p.Glu955Asp) c.2643G>C (p.Glu881Asp) c.-64-6883G>C (n.-64-6883G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94046972C>T | CA958132 | ABCA4 | c.2865G>A (p.Glu955=) c.2643G>A (p.Glu881=) c.-64-6883G>A (n.-64-6883G>A) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.94046972_94046973delinsCT | CA1181422602 | ABCA4 | c.2864_2865delinsAG (p.Glu955=) c.2642_2643delinsAG (p.Glu881=) c.-64-6884_-64-6883delinsAG (n.-64-6884_-64-6883delinsAG) | |
| 1 | g.94046973del | CA958133 | ABCA4 | c.2864del (p.Glu955GlyfsTer22) c.2642del (p.Glu881GlyfsTer?) c.-64-6884del (n.-64-6884del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94046973T>A | CA958134 | ABCA4 | c.2864A>T (p.Glu955Val) c.2642A>T (p.Glu881Val) c.-64-6884A>T (n.-64-6884A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94046973T>C | CA341275390 | ABCA4 | c.2864A>G (p.Glu955Gly) c.2642A>G (p.Glu881Gly) c.-64-6884A>G (n.-64-6884A>G) | ClinVar |
| 1 | g.94046973T>G | CA341275391 | ABCA4 | c.2864A>C (p.Glu955Ala) c.2642A>C (p.Glu881Ala) c.-64-6884A>C (n.-64-6884A>C) | |
| 1 | g.94046973T= | CA1181422604 | ABCA4 | c.2864A= (p.Glu955=) c.2642A= (p.Glu881=) c.-64-6884A= (n.-64-6884A=) | |
| 1 | g.94046974C>A | CA341275392 | ABCA4 | c.2863G>T (p.Glu955Ter) c.2641G>T (p.Glu881Ter) c.-64-6885G>T (n.-64-6885G>T) | |
| 1 | g.94046974C= | CA1181422605 | ABCA4 | c.2863G= (p.Glu955=) c.2641G= (p.Glu881=) c.-64-6885G= (n.-64-6885G=) | |
| 1 | g.94046974C>G | CA958136 | ABCA4 | c.2863G>C (p.Glu955Gln) c.2641G>C (p.Glu881Gln) c.-64-6885G>C (n.-64-6885G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94046974C>T | CA958135 | ABCA4 | c.2863G>A (p.Glu955Lys) c.2641G>A (p.Glu881Lys) c.-64-6885G>A (n.-64-6885G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.94046975G>A | CA958137 | ABCA4 | c.2862C>T (p.Tyr954=) c.2640C>T (p.Tyr880=) c.-64-6886C>T (n.-64-6886C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94046975G>C | CA341275394 | ABCA4 | c.2862C>G (p.Tyr954Ter) c.2640C>G (p.Tyr880Ter) c.-64-6886C>G (n.-64-6886C>G) | gnomAD v4 |
| 1 | g.94046975G= | CA1181422606 | ABCA4 | c.2862C= (p.Tyr954=) c.2640C= (p.Tyr880=) c.-64-6886C= (n.-64-6886C=) | |
| 1 | g.94046975G>T | CA341275393 | ABCA4 | c.2862C>A (p.Tyr954Ter) c.2640C>A (p.Tyr880Ter) c.-64-6886C>A (n.-64-6886C>A) | gnomAD v4 |
| 1 | g.94046976T>A | CA341275395 | ABCA4 | c.2861A>T (p.Tyr954Phe) c.2639A>T (p.Tyr880Phe) c.-64-6887A>T (n.-64-6887A>T) | |
| 1 | g.94046976T>C | CA341275396 | ABCA4 | c.2861A>G (p.Tyr954Cys) c.2639A>G (p.Tyr880Cys) c.-64-6887A>G (n.-64-6887A>G) | COSMIC COSMIC |
| 1 | g.94046976T>G | CA341275397 | ABCA4 | c.2861A>C (p.Tyr954Ser) c.2639A>C (p.Tyr880Ser) c.-64-6887A>C (n.-64-6887A>C) | ClinVar dbSNP |
| 1 | g.94046976T= | CA1181422607 | ABCA4 | c.2861A= (p.Tyr954=) c.2639A= (p.Tyr880=) c.-64-6887A= (n.-64-6887A=) | |
| 1 | g.94046977A= | CA1140725911 | ABCA4 | c.2860T= (p.Tyr954=) c.2638T= (p.Tyr880=) c.-64-6888T= (n.-64-6888T=) | |
| 1 | g.94046977A>C | CA227039 | ABCA4 | c.2860T>G (p.Tyr954Asp) c.2638T>G (p.Tyr880Asp) c.-64-6888T>G (n.-64-6888T>G) | ClinVar dbSNP |
| 1 | g.94046977A>G | CA341275398 | ABCA4 | c.2860T>C (p.Tyr954His) c.2638T>C (p.Tyr880His) c.-64-6888T>C (n.-64-6888T>C) | |
| 1 | g.94046977A>T | CA341275399 | ABCA4 | c.2860T>A (p.Tyr954Asn) c.2638T>A (p.Tyr880Asn) c.-64-6888T>A (n.-64-6888T>A) | |
| 1 | g.94046978G>A | CA418811656 | ABCA4 | c.2859C>T (p.Phe953=) c.2637C>T (p.Phe879=) c.-64-6889C>T (n.-64-6889C>T) | |
| 1 | g.94046978G>C | CA341275400 | ABCA4 | c.2859C>G (p.Phe953Leu) c.2637C>G (p.Phe879Leu) c.-64-6889C>G (n.-64-6889C>G) | |
| 1 | g.94046978G= | CA1181422608 | ABCA4 | c.2859C= (p.Phe953=) c.2637C= (p.Phe879=) c.-64-6889C= (n.-64-6889C=) | |
| 1 | g.94046978G>T | CA341275401 | ABCA4 | c.2859C>A (p.Phe953Leu) c.2637C>A (p.Phe879Leu) c.-64-6889C>A (n.-64-6889C>A) | ClinVar dbSNP |
| 1 | g.94046979A>C | CA341275402 | ABCA4 | c.2858T>G (p.Phe953Cys) c.2636T>G (p.Phe879Cys) c.-64-6890T>G (n.-64-6890T>G) | |
| 1 | g.94046979A>G | CA341275403 | ABCA4 | c.2858T>C (p.Phe953Ser) c.2636T>C (p.Phe879Ser) c.-64-6890T>C (n.-64-6890T>C) | |
| 1 | g.94046979A>T | CA341275404 | ABCA4 | c.2858T>A (p.Phe953Tyr) c.2636T>A (p.Phe879Tyr) c.-64-6890T>A (n.-64-6890T>A) | |
| 1 | g.94046980A>C | CA341275407 | ABCA4 | c.2857T>G (p.Phe953Val) c.2635T>G (p.Phe879Val) c.-64-6891T>G (n.-64-6891T>G) | |
| 1 | g.94046980A>G | CA341275405 | ABCA4 | c.2857T>C (p.Phe953Leu) c.2635T>C (p.Phe879Leu) c.-64-6891T>C (n.-64-6891T>C) | gnomAD v4 |
| 1 | g.94046980A>T | CA341275406 | ABCA4 | c.2857T>A (p.Phe953Ile) c.2635T>A (p.Phe879Ile) c.-64-6891T>A (n.-64-6891T>A) | |
| 1 | g.94046981G>A | CA418811679 | ABCA4 | c.2856C>T (p.Thr952=) c.2634C>T (p.Thr878=) c.-64-6892C>T (n.-64-6892C>T) | |
| 1 | g.94046981G>C | CA418811681 | ABCA4 | c.2856C>G (p.Thr952=) c.2634C>G (p.Thr878=) c.-64-6892C>G (n.-64-6892C>G) | |
| 1 | g.94046981G>T | CA418811683 | ABCA4 | c.2856C>A (p.Thr952=) c.2634C>A (p.Thr878=) c.-64-6892C>A (n.-64-6892C>A) | |
| 1 | g.94046982G>A | CA341275408 | ABCA4 | c.2855C>T (p.Thr952Ile) c.2633C>T (p.Thr878Ile) c.-64-6893C>T (n.-64-6893C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94046982G>C | CA341275409 | ABCA4 | c.2855C>G (p.Thr952Ser) c.2633C>G (p.Thr878Ser) c.-64-6893C>G (n.-64-6893C>G) | |
| 1 | g.94046982G= | CA1181422609 | ABCA4 | c.2855C= (p.Thr952=) c.2633C= (p.Thr878=) c.-64-6893C= (n.-64-6893C=) | |
| 1 | g.94046982G>T | CA341275410 | ABCA4 | c.2855C>A (p.Thr952Asn) c.2633C>A (p.Thr878Asn) c.-64-6893C>A (n.-64-6893C>A) | |
| 1 | g.94046983T>A | CA341275411 | ABCA4 | c.2854A>T (p.Thr952Ser) c.2632A>T (p.Thr878Ser) c.-64-6894A>T (n.-64-6894A>T) | |
| 1 | g.94046983T>C | CA341275412 | ABCA4 | c.2854A>G (p.Thr952Ala) c.2632A>G (p.Thr878Ala) c.-64-6894A>G (n.-64-6894A>G) | |
| 1 | g.94046983T>G | CA341275413 | ABCA4 | c.2854A>C (p.Thr952Pro) c.2632A>C (p.Thr878Pro) c.-64-6894A>C (n.-64-6894A>C) | |
| 1 | g.94046984G>A | CA418811702 | ABCA4 | c.2853C>T (p.Ile951=) c.2631C>T (p.Ile877=) c.-64-6895C>T (n.-64-6895C>T) | |
| 1 | g.94046984G>C | CA341275414 | ABCA4 | c.2853C>G (p.Ile951Met) c.2631C>G (p.Ile877Met) c.-64-6895C>G (n.-64-6895C>G) | |
| 1 | g.94046984G= | CA1181422610 | ABCA4 | c.2853C= (p.Ile951=) c.2631C= (p.Ile877=) c.-64-6895C= (n.-64-6895C=) | |
| 1 | g.94046984G>T | CA418811704 | ABCA4 | c.2853C>A (p.Ile951=) c.2631C>A (p.Ile877=) c.-64-6895C>A (n.-64-6895C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94046985A= | CA1181422611 | ABCA4 | c.2852T= (p.Ile951=) c.2630T= (p.Ile877=) c.-64-6896T= (n.-64-6896T=) | |
| 1 | g.94046985A>C | CA341275415 | ABCA4 | c.2852T>G (p.Ile951Ser) c.2630T>G (p.Ile877Ser) c.-64-6896T>G (n.-64-6896T>G) | |
| 1 | g.94046985A>G | CA341275416 | ABCA4 | c.2852T>C (p.Ile951Thr) c.2630T>C (p.Ile877Thr) c.-64-6896T>C (n.-64-6896T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94046985A>T | CA341275417 | ABCA4 | c.2852T>A (p.Ile951Asn) c.2630T>A (p.Ile877Asn) c.-64-6896T>A (n.-64-6896T>A) | |
| 1 | g.94046986T>A | CA341275419 | ABCA4 | c.2851A>T (p.Ile951Phe) c.2629A>T (p.Ile877Phe) c.-64-6897A>T (n.-64-6897A>T) | |
| 1 | g.94046986T>C | CA341275420 | ABCA4 | c.2851A>G (p.Ile951Val) c.2629A>G (p.Ile877Val) c.-64-6897A>G (n.-64-6897A>G) | dbSNP gnomAD v4 |
| 1 | g.94046986T>G | CA341275418 | ABCA4 | c.2851A>C (p.Ile951Leu) c.2629A>C (p.Ile877Leu) c.-64-6897A>C (n.-64-6897A>C) | |
| 1 | g.94046986T= | CA1181422612 | ABCA4 | c.2851A= (p.Ile951=) c.2629A= (p.Ile877=) c.-64-6897A= (n.-64-6897A=) | |
| 1 | g.94046987G>A | CA418811718 | ABCA4 | c.2850C>T (p.Asn950=) c.2628C>T (p.Asn876=) c.-64-6898C>T (n.-64-6898C>T) | |
| 1 | g.94046987G>C | CA341275421 | ABCA4 | c.2850C>G (p.Asn950Lys) c.2628C>G (p.Asn876Lys) c.-64-6898C>G (n.-64-6898C>G) | |
| 1 | g.94046987G>T | CA341275422 | ABCA4 | c.2850C>A (p.Asn950Lys) c.2628C>A (p.Asn876Lys) c.-64-6898C>A (n.-64-6898C>A) | |
| 1 | g.94046988T>A | CA341275423 | ABCA4 | c.2849A>T (p.Asn950Ile) c.2627A>T (p.Asn876Ile) c.-64-6899A>T (n.-64-6899A>T) | |
| 1 | g.94046988T>C | CA341275424 | ABCA4 | c.2849A>G (p.Asn950Ser) c.2627A>G (p.Asn876Ser) c.-64-6899A>G (n.-64-6899A>G) | |
| 1 | g.94046988T>G | CA341275425 | ABCA4 | c.2849A>C (p.Asn950Thr) c.2627A>C (p.Asn876Thr) c.-64-6899A>C (n.-64-6899A>C) | |
| 1 | g.94046989T>A | CA341275426 | ABCA4 | c.2848A>T (p.Asn950Tyr) c.2626A>T (p.Asn876Tyr) c.-64-6900A>T (n.-64-6900A>T) | |
| 1 | g.94046989T>C | CA341275427 | ABCA4 | c.2848A>G (p.Asn950Asp) c.2626A>G (p.Asn876Asp) c.-64-6900A>G (n.-64-6900A>G) | |
| 1 | g.94046989T>G | CA341275428 | ABCA4 | c.2848A>C (p.Asn950His) c.2626A>C (p.Asn876His) c.-64-6900A>C (n.-64-6900A>C) | |
| 1 | g.94046990C>A | CA418811727 | ABCA4 | c.2847G>T (p.Leu949=) c.2625G>T (p.Leu875=) c.-64-6901G>T (n.-64-6901G>T) | |
| 1 | g.94046990C>G | CA418811745 | ABCA4 | c.2847G>C (p.Leu949=) c.2625G>C (p.Leu875=) c.-64-6901G>C (n.-64-6901G>C) | |
| 1 | g.94046990C>T | CA418811737 | ABCA4 | c.2847G>A (p.Leu949=) c.2625G>A (p.Leu875=) c.-64-6901G>A (n.-64-6901G>A) | |
| 1 | g.94046991A>C | CA341275429 | ABCA4 | c.2846T>G (p.Leu949Arg) c.2624T>G (p.Leu875Arg) c.-64-6902T>G (n.-64-6902T>G) | |
| 1 | g.94046991A>G | CA341275430 | ABCA4 | c.2846T>C (p.Leu949Pro) c.2624T>C (p.Leu875Pro) c.-64-6902T>C (n.-64-6902T>C) | |
| 1 | g.94046991A>T | CA341275431 | ABCA4 | c.2846T>A (p.Leu949Gln) c.2624T>A (p.Leu875Gln) c.-64-6902T>A (n.-64-6902T>A) | |
| 1 | g.94046992G>A | CA418811755 | ABCA4 | c.2845C>T (p.Leu949=) c.2623C>T (p.Leu875=) c.-64-6903C>T (n.-64-6903C>T) | |
| 1 | g.94046992G>C | CA341275432 | ABCA4 | c.2845C>G (p.Leu949Val) c.2623C>G (p.Leu875Val) c.-64-6903C>G (n.-64-6903C>G) | |
| 1 | g.94046992G>T | CA341275433 | ABCA4 | c.2845C>A (p.Leu949Met) c.2623C>A (p.Leu875Met) c.-64-6903C>A (n.-64-6903C>A) | |
| 1 | g.94046993A>C | CA418811767 | ABCA4 | c.2844T>G (p.Arg948=) c.2622T>G (p.Arg874=) c.-64-6904T>G (n.-64-6904T>G) | |
| 1 | g.94046993A>G | CA418811769 | ABCA4 | c.2844T>C (p.Arg948=) c.2622T>C (p.Arg874=) c.-64-6904T>C (n.-64-6904T>C) | |
| 1 | g.94046993A>T | CA418811772 | ABCA4 | c.2844T>A (p.Arg948=) c.2622T>A (p.Arg874=) c.-64-6904T>A (n.-64-6904T>A) | |
| 1 | g.94046994C>A | CA341275435 | ABCA4 | c.2843G>T (p.Arg948Leu) c.2621G>T (p.Arg874Leu) c.-64-6905G>T (n.-64-6905G>T) | |
| 1 | g.94046994C= | CA1142247066 | ABCA4 | c.2843G= (p.Arg948=) c.2621G= (p.Arg874=) c.-64-6905G= (n.-64-6905G=) | |
| 1 | g.94046994C>G | CA341275434 | ABCA4 | c.2843G>C (p.Arg948Pro) c.2621G>C (p.Arg874Pro) c.-64-6905G>C (n.-64-6905G>C) | |
| 1 | g.94046994C>T | CA958138 | ABCA4 | c.2843G>A (p.Arg948His) c.2621G>A (p.Arg874His) c.-64-6905G>A (n.-64-6905G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94046995G>A | CA958139 | ABCA4 | c.2842C>T (p.Arg948Cys) c.2620C>T (p.Arg874Cys) c.-64-6906C>T (n.-64-6906C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94046995G>C | CA958140 | ABCA4 | c.2842C>G (p.Arg948Gly) c.2620C>G (p.Arg874Gly) c.-64-6906C>G (n.-64-6906C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94046995G= | CA1181422613 | ABCA4 | c.2842C= (p.Arg948=) c.2620C= (p.Arg874=) c.-64-6906C= (n.-64-6906C=) | |
| 1 | g.94046995G>T | CA341275436 | ABCA4 | c.2842C>A (p.Arg948Ser) c.2620C>A (p.Arg874Ser) c.-64-6906C>A (n.-64-6906C>A) | COSMIC COSMIC |
| 1 | g.94046996G>A | CA958141 | ABCA4 | c.2841C>T (p.Asp947=) c.2619C>T (p.Asp873=) c.-64-6907C>T (n.-64-6907C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94046996G>C | CA341275437 | ABCA4 | c.2841C>G (p.Asp947Glu) c.2619C>G (p.Asp873Glu) c.-64-6907C>G (n.-64-6907C>G) | |
| 1 | g.94046996G= | CA1143424487 | ABCA4 | c.2841C= (p.Asp947=) c.2619C= (p.Asp873=) c.-64-6907C= (n.-64-6907C=) | |
| 1 | g.94046996G>T | CA341275438 | ABCA4 | c.2841C>A (p.Asp947Glu) c.2619C>A (p.Asp873Glu) c.-64-6907C>A (n.-64-6907C>A) | |
| 1 | g.94046997T>A | CA341275439 | ABCA4 | c.2840A>T (p.Asp947Val) c.2618A>T (p.Asp873Val) c.-64-6908A>T (n.-64-6908A>T) | |
| 1 | g.94046997T>C | CA341275440 | ABCA4 | c.2840A>G (p.Asp947Gly) c.2618A>G (p.Asp873Gly) c.-64-6908A>G (n.-64-6908A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94046997T>G | CA341275441 | ABCA4 | c.2840A>C (p.Asp947Ala) c.2618A>C (p.Asp873Ala) c.-64-6908A>C (n.-64-6908A>C) | |
| 1 | g.94046997T= | CA1181422614 | ABCA4 | c.2840A= (p.Asp947=) c.2618A= (p.Asp873=) c.-64-6908A= (n.-64-6908A=) | |
| 1 | g.94046998C>A | CA341275442 | ABCA4 | c.2839G>T (p.Asp947Tyr) c.2617G>T (p.Asp873Tyr) c.-64-6909G>T (n.-64-6909G>T) | |
| 1 | g.94046998C= | CA1181422615 | ABCA4 | c.2839G= (p.Asp947=) c.2617G= (p.Asp873=) c.-64-6909G= (n.-64-6909G=) | |
| 1 | g.94046998C>G | CA341275443 | ABCA4 | c.2839G>C (p.Asp947His) c.2617G>C (p.Asp873His) c.-64-6909G>C (n.-64-6909G>C) | |
| 1 | g.94046998C>T | CA341275444 | ABCA4 | c.2839G>A (p.Asp947Asn) c.2617G>A (p.Asp873Asn) c.-64-6909G>A (n.-64-6909G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94046999C>A | CA418811819 | ABCA4 | c.2838G>T (p.Val946=) c.2616G>T (p.Val872=) c.-64-6910G>T (n.-64-6910G>T) | |
| 1 | g.94046999C>G | CA418811821 | ABCA4 | c.2838G>C (p.Val946=) c.2616G>C (p.Val872=) c.-64-6910G>C (n.-64-6910G>C) | gnomAD v4 |
| 1 | g.94046999C>T | CA418811825 | ABCA4 | c.2838G>A (p.Val946=) c.2616G>A (p.Val872=) c.-64-6910G>A (n.-64-6910G>A) | |
| 1 | g.94047000A>C | CA341275447 | ABCA4 | c.2837T>G (p.Val946Gly) c.2615T>G (p.Val872Gly) c.-64-6911T>G (n.-64-6911T>G) | |
| 1 | g.94047000A>G | CA341275446 | ABCA4 | c.2837T>C (p.Val946Ala) c.2615T>C (p.Val872Ala) c.-64-6911T>C (n.-64-6911T>C) | |
| 1 | g.94047000A>T | CA341275445 | ABCA4 | c.2837T>A (p.Val946Glu) c.2615T>A (p.Val872Glu) c.-64-6911T>A (n.-64-6911T>A) | |
| 1 | g.94047001C>A | CA341275448 | ABCA4 | c.2836G>T (p.Val946Leu) c.2614G>T (p.Val872Leu) c.-64-6912G>T (n.-64-6912G>T) | |
| 1 | g.94047001C>G | CA341275450 | ABCA4 | c.2836G>C (p.Val946Leu) c.2614G>C (p.Val872Leu) c.-64-6912G>C (n.-64-6912G>C) | |
| 1 | g.94047001C>T | CA341275449 | ABCA4 | c.2836G>A (p.Val946Met) c.2614G>A (p.Val872Met) c.-64-6912G>A (n.-64-6912G>A) | |
| 1 | g.94047002A>C | CA418811844 | ABCA4 | c.2835T>G (p.Ala945=) c.2613T>G (p.Ala871=) c.-64-6913T>G (n.-64-6913T>G) | |
| 1 | g.94047002A>G | CA418811847 | ABCA4 | c.2835T>C (p.Ala945=) c.2613T>C (p.Ala871=) c.-64-6913T>C (n.-64-6913T>C) | |
| 1 | g.94047002A>T | CA418811850 | ABCA4 | c.2835T>A (p.Ala945=) c.2613T>A (p.Ala871=) c.-64-6913T>A (n.-64-6913T>A) | |
| 1 | g.94047003G>A | CA341275451 | ABCA4 | c.2834C>T (p.Ala945Val) c.2612C>T (p.Ala871Val) c.-64-6914C>T (n.-64-6914C>T) | |
| 1 | g.94047003G>C | CA341275452 | ABCA4 | c.2834C>G (p.Ala945Gly) c.2612C>G (p.Ala871Gly) c.-64-6914C>G (n.-64-6914C>G) | |
| 1 | g.94047003G>T | CA341275453 | ABCA4 | c.2834C>A (p.Ala945Asp) c.2612C>A (p.Ala871Asp) c.-64-6914C>A (n.-64-6914C>A) | |
| 1 | g.94047004C>A | CA26840843 | ABCA4 | c.2833G>T (p.Ala945Ser) c.2611G>T (p.Ala871Ser) c.-64-6915G>T (n.-64-6915G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94047004C= | CA1142375189 | ABCA4 | c.2833G= (p.Ala945=) c.2611G= (p.Ala871=) c.-64-6915G= (n.-64-6915G=) | |
| 1 | g.94047004C>G | CA341275454 | ABCA4 | c.2833G>C (p.Ala945Pro) c.2611G>C (p.Ala871Pro) c.-64-6915G>C (n.-64-6915G>C) | |
| 1 | g.94047004C>T | CA341275455 | ABCA4 | c.2833G>A (p.Ala945Thr) c.2611G>A (p.Ala871Thr) c.-64-6915G>A (n.-64-6915G>A) | ClinVar |
| 1 | g.94047005T>A | CA418811859 | ABCA4 | c.2832A>T (p.Pro944=) c.2610A>T (p.Pro870=) c.-64-6916A>T (n.-64-6916A>T) | |
| 1 | g.94047005T>C | CA958142 | ABCA4 | c.2832A>G (p.Pro944=) c.2610A>G (p.Pro870=) c.-64-6916A>G (n.-64-6916A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94047005T>G | CA418811860 | ABCA4 | c.2832A>C (p.Pro944=) c.2610A>C (p.Pro870=) c.-64-6916A>C (n.-64-6916A>C) | |
| 1 | g.94047005T= | CA1148247380 | ABCA4 | c.2832A= (p.Pro944=) c.2610A= (p.Pro870=) c.-64-6916A= (n.-64-6916A=) | |
| 1 | g.94047006G>A | CA341275456 | ABCA4 | c.2831C>T (p.Pro944Leu) c.2609C>T (p.Pro870Leu) c.-64-6917C>T (n.-64-6917C>T) | gnomAD v4 COSMIC COSMIC |
| 1 | g.94047006G>C | CA341275457 | ABCA4 | c.2831C>G (p.Pro944Arg) c.2609C>G (p.Pro870Arg) c.-64-6917C>G (n.-64-6917C>G) | |
| 1 | g.94047006G>T | CA341275458 | ABCA4 | c.2831C>A (p.Pro944Gln) c.2609C>A (p.Pro870Gln) c.-64-6917C>A (n.-64-6917C>A) | |
| 1 | g.94047007G>A | CA341275459 | ABCA4 | c.2830C>T (p.Pro944Ser) c.2608C>T (p.Pro870Ser) c.-64-6918C>T (n.-64-6918C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94047007G>C | CA341275460 | ABCA4 | c.2830C>G (p.Pro944Ala) c.2608C>G (p.Pro870Ala) c.-64-6918C>G (n.-64-6918C>G) | |
| 1 | g.94047007G= | CA1181422616 | ABCA4 | c.2830C= (p.Pro944=) c.2608C= (p.Pro870=) c.-64-6918C= (n.-64-6918C=) | |
| 1 | g.94047007G>T | CA341275461 | ABCA4 | c.2830C>A (p.Pro944Thr) c.2608C>A (p.Pro870Thr) c.-64-6918C>A (n.-64-6918C>A) | |
| 1 | g.94047007_94047008delinsGC | CA1181422617 | ABCA4 | c.2829_2830delinsGC (p.Arg943=) c.2607_2608delinsGC (p.Arg869=) c.-64-6919_-64-6918delinsGC (n.-64-6919_-64-6918delinsGC) | |
| 1 | g.94047008C>A | CA418811878 | ABCA4 | c.2829G>T (p.Arg943=) c.2607G>T (p.Arg869=) c.-64-6919G>T (n.-64-6919G>T) | |
| 1 | g.94047008C= | CA1181422618 | ABCA4 | c.2829G= (p.Arg943=) c.2607G= (p.Arg869=) c.-64-6919G= (n.-64-6919G=) | |
| 1 | g.94047008C>G | CA418811880 | ABCA4 | c.2829G>C (p.Arg943=) c.2607G>C (p.Arg869=) c.-64-6919G>C (n.-64-6919G>C) | |
| 1 | g.94047008C>T | CA418811883 | ABCA4 | c.2829G>A (p.Arg943=) c.2607G>A (p.Arg869=) c.-64-6919G>A (n.-64-6919G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.94047009del | CA645372184 | ABCA4 | c.2829del (p.Pro944GlnfsTer6) c.2607del (p.Pro870GlnfsTer6) c.-64-6919del (n.-64-6919del) | ClinVar dbSNP |
| 1 | g.94047009C>A | CA958143 | ABCA4 | c.2828G>T (p.Arg943Leu) c.2606G>T (p.Arg869Leu) c.-64-6920G>T (n.-64-6920G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047009C= | CA1139894810 | ABCA4 | c.2828G= (p.Arg943=) c.2606G= (p.Arg869=) c.-64-6920G= (n.-64-6920G=) | |
| 1 | g.94047009C>G | CA341275462 | ABCA4 | c.2828G>C (p.Arg943Pro) c.2606G>C (p.Arg869Pro) c.-64-6920G>C (n.-64-6920G>C) | |
| 1 | g.94047009C>T | CA119146 | ABCA4 | c.2828G>A (p.Arg943Gln) c.2606G>A (p.Arg869Gln) c.-64-6920G>A (n.-64-6920G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047009_94047010delinsCG | CA1181422619 | ABCA4 | c.2827_2828delinsCG (p.Arg943=) c.2605_2606delinsCG (p.Arg869=) c.-64-6921_-64-6920delinsCG (n.-64-6921_-64-6920delinsCG) | |
| 1 | g.94047010G>A | CA227037 | ABCA4 | c.2827C>T (p.Arg943Trp) c.2605C>T (p.Arg869Trp) c.-64-6921C>T (n.-64-6921C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94047010G>C | CA227035 | ABCA4 | c.2827C>G (p.Arg943Gly) c.2605C>G (p.Arg869Gly) c.-64-6921C>G (n.-64-6921C>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94047010G= | CA1140725914 | ABCA4 | c.2827C= (p.Arg943=) c.2605C= (p.Arg869=) c.-64-6921C= (n.-64-6921C=) | |
| 1 | g.94047010G>T | CA418811900 | ABCA4 | c.2827C>A (p.Arg943=) c.2605C>A (p.Arg869=) c.-64-6921C>A (n.-64-6921C>A) | |
| 1 | g.94047010_94047011delinsGG | CA1143538163 | ABCA4 | c.2826_2827delinsCC (p.Gly942=) c.2604_2605delinsCC (p.Gly868=) c.-64-6922_-64-6921delinsCC (n.-64-6922_-64-6921delinsCC) | |
| 1 | g.94047011del | CA227038 | ABCA4 | c.2827del (p.Arg943GlyfsTer7) c.2605del (p.Arg869GlyfsTer7) c.-64-6921del (n.-64-6921del) | ClinVar dbSNP |
| 1 | g.94047011G>A | CA418811907 | ABCA4 | c.2826C>T (p.Gly942=) c.2604C>T (p.Gly868=) c.-64-6922C>T (n.-64-6922C>T) | |
| 1 | g.94047011G>C | CA418811912 | ABCA4 | c.2826C>G (p.Gly942=) c.2604C>G (p.Gly868=) c.-64-6922C>G (n.-64-6922C>G) | |
| 1 | g.94047011G= | CA1181422620 | ABCA4 | c.2826C= (p.Gly942=) c.2604C= (p.Gly868=) c.-64-6922C= (n.-64-6922C=) | |
| 1 | g.94047011G>T | CA418811913 | ABCA4 | c.2826C>A (p.Gly942=) c.2604C>A (p.Gly868=) c.-64-6922C>A (n.-64-6922C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94047012C>A | CA341275463 | ABCA4 | c.2825G>T (p.Gly942Val) c.2603G>T (p.Gly868Val) c.-64-6923G>T (n.-64-6923G>T) | ClinVar dbSNP |
| 1 | g.94047012C= | CA1181422621 | ABCA4 | c.2825G= (p.Gly942=) c.2603G= (p.Gly868=) c.-64-6923G= (n.-64-6923G=) | |
| 1 | g.94047012C>G | CA341275464 | ABCA4 | c.2825G>C (p.Gly942Ala) c.2603G>C (p.Gly868Ala) c.-64-6923G>C (n.-64-6923G>C) | |
| 1 | g.94047012C>T | CA341275465 | ABCA4 | c.2825G>A (p.Gly942Asp) c.2603G>A (p.Gly868Asp) c.-64-6923G>A (n.-64-6923G>A) | |
| 1 | g.94047013C>A | CA341275466 | ABCA4 | c.2824G>T (p.Gly942Cys) c.2602G>T (p.Gly868Cys) c.-64-6924G>T (n.-64-6924G>T) | |
| 1 | g.94047013C= | CA1181422622 | ABCA4 | c.2824G= (p.Gly942=) c.2602G= (p.Gly868=) c.-64-6924G= (n.-64-6924G=) | |
| 1 | g.94047013C>G | CA958144 | ABCA4 | c.2824G>C (p.Gly942Arg) c.2602G>C (p.Gly868Arg) c.-64-6924G>C (n.-64-6924G>C) | dbSNP ExAC |
| 1 | g.94047013C>T | CA341275467 | ABCA4 | c.2824G>A (p.Gly942Ser) c.2602G>A (p.Gly868Ser) c.-64-6924G>A (n.-64-6924G>A) | |
| 1 | g.94047014A>C | CA341275468 | ABCA4 | c.2823T>G (p.Cys941Trp) c.2601T>G (p.Cys867Trp) c.-64-6925T>G (n.-64-6925T>G) | |
| 1 | g.94047014A>G | CA418811928 | ABCA4 | c.2823T>C (p.Cys941=) c.2601T>C (p.Cys867=) c.-64-6925T>C (n.-64-6925T>C) | |
| 1 | g.94047014A>T | CA341275469 | ABCA4 | c.2823T>A (p.Cys941Ter) c.2601T>A (p.Cys867Ter) c.-64-6925T>A (n.-64-6925T>A) | ClinVar |
| 1 | g.94047015C>A | CA958145 | ABCA4 | c.2822G>T (p.Cys941Phe) c.2600G>T (p.Cys867Phe) c.-64-6926G>T (n.-64-6926G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94047015C= | CA1141341351 | ABCA4 | c.2822G= (p.Cys941=) c.2600G= (p.Cys867=) c.-64-6926G= (n.-64-6926G=) | |
| 1 | g.94047015C>G | CA341275470 | ABCA4 | c.2822G>C (p.Cys941Ser) c.2600G>C (p.Cys867Ser) c.-64-6926G>C (n.-64-6926G>C) | |
| 1 | g.94047015C>T | CA26840863 | ABCA4 | c.2822G>A (p.Cys941Tyr) c.2600G>A (p.Cys867Tyr) c.-64-6926G>A (n.-64-6926G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047016A>C | CA341275473 | ABCA4 | c.2821T>G (p.Cys941Gly) c.2599T>G (p.Cys867Gly) c.-64-6927T>G (n.-64-6927T>G) | |
| 1 | g.94047016A>G | CA341275471 | ABCA4 | c.2821T>C (p.Cys941Arg) c.2599T>C (p.Cys867Arg) c.-64-6927T>C (n.-64-6927T>C) | gnomAD v4 |
| 1 | g.94047016A>T | CA341275472 | ABCA4 | c.2821T>A (p.Cys941Ser) c.2599T>A (p.Cys867Ser) c.-64-6927T>A (n.-64-6927T>A) | |
| 1 | g.94047017G>A | CA418811955 | ABCA4 | c.2820C>T (p.Pro940=) c.2598C>T (p.Pro866=) c.-64-6928C>T (n.-64-6928C>T) | |
| 1 | g.94047017G>C | CA227033 | ABCA4 | c.2820C>G (p.Pro940=) c.2598C>G (p.Pro866=) c.-64-6928C>G (n.-64-6928C>G) | ClinVar dbSNP |
| 1 | g.94047017G= | CA1140725916 | ABCA4 | c.2820C= (p.Pro940=) c.2598C= (p.Pro866=) c.-64-6928C= (n.-64-6928C=) | |
| 1 | g.94047017G>T | CA418811964 | ABCA4 | c.2820C>A (p.Pro940=) c.2598C>A (p.Pro866=) c.-64-6928C>A (n.-64-6928C>A) | |
| 1 | g.94047019del | CA2739272676 | ABCA4 | c.2820del (p.Cys941ValfsTer9) c.2598del (p.Cys867ValfsTer9) c.-64-6928del (n.-64-6928del) | ClinVar |
| 1 | g.94047018G>A | CA341275474 | ABCA4 | c.2819C>T (p.Pro940Leu) c.2597C>T (p.Pro866Leu) c.-64-6929C>T (n.-64-6929C>T) | gnomAD v4 |
| 1 | g.94047018G>C | CA958146 | ABCA4 | c.2819C>G (p.Pro940Arg) c.2597C>G (p.Pro866Arg) c.-64-6929C>G (n.-64-6929C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047018G= | CA1142025597 | ABCA4 | c.2819C= (p.Pro940=) c.2597C= (p.Pro866=) c.-64-6929C= (n.-64-6929C=) | |
| 1 | g.94047018G>T | CA341275475 | ABCA4 | c.2819C>A (p.Pro940His) c.2597C>A (p.Pro866His) c.-64-6929C>A (n.-64-6929C>A) | |
| 1 | g.94047019G>A | CA958147 | ABCA4 | c.2818C>T (p.Pro940Ser) c.2596C>T (p.Pro866Ser) c.-64-6930C>T (n.-64-6930C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94047019G>C | CA341275476 | ABCA4 | c.2818C>G (p.Pro940Ala) c.2596C>G (p.Pro866Ala) c.-64-6930C>G (n.-64-6930C>G) | gnomAD v4 |
| 1 | g.94047019G= | CA1181422623 | ABCA4 | c.2818C= (p.Pro940=) c.2596C= (p.Pro866=) c.-64-6930C= (n.-64-6930C=) | |
| 1 | g.94047019G>T | CA341275477 | ABCA4 | c.2818C>A (p.Pro940Thr) c.2596C>A (p.Pro866Thr) c.-64-6930C>A (n.-64-6930C>A) | gnomAD v4 |
| 1 | g.94047020C>A | CA341275478 | ABCA4 | c.2817G>T (p.Glu939Asp) c.2595G>T (p.Glu865Asp) c.-64-6931G>T (n.-64-6931G>T) | |
| 1 | g.94047020C= | CA1181422624 | ABCA4 | c.2817G= (p.Glu939=) c.2595G= (p.Glu865=) c.-64-6931G= (n.-64-6931G=) | |
| 1 | g.94047020C>G | CA341275479 | ABCA4 | c.2817G>C (p.Glu939Asp) c.2595G>C (p.Glu865Asp) c.-64-6931G>C (n.-64-6931G>C) | |
| 1 | g.94047020C>T | CA418811987 | ABCA4 | c.2817G>A (p.Glu939=) c.2595G>A (p.Glu865=) c.-64-6931G>A (n.-64-6931G>A) | ClinVar dbSNP |
| 1 | g.94047021T>A | CA341275480 | ABCA4 | c.2816A>T (p.Glu939Val) c.2594A>T (p.Glu865Val) c.-64-6932A>T (n.-64-6932A>T) | |
| 1 | g.94047021T>C | CA341275481 | ABCA4 | c.2816A>G (p.Glu939Gly) c.2594A>G (p.Glu865Gly) c.-64-6932A>G (n.-64-6932A>G) | |
| 1 | g.94047021T>G | CA341275482 | ABCA4 | c.2816A>C (p.Glu939Ala) c.2594A>C (p.Glu865Ala) c.-64-6932A>C (n.-64-6932A>C) | |
| 1 | g.94047022C>A | CA235750 | ABCA4 | c.2815G>T (p.Glu939Ter) c.2593G>T (p.Glu865Ter) c.-64-6933G>T (n.-64-6933G>T) | ClinVar dbSNP |
| 1 | g.94047022C= | CA1181422625 | ABCA4 | c.2815G= (p.Glu939=) c.2593G= (p.Glu865=) c.-64-6933G= (n.-64-6933G=) | |
| 1 | g.94047022C>G | CA341275484 | ABCA4 | c.2815G>C (p.Glu939Gln) c.2593G>C (p.Glu865Gln) c.-64-6933G>C (n.-64-6933G>C) | ClinVar |
| 1 | g.94047022C>T | CA341275483 | ABCA4 | c.2815G>A (p.Glu939Lys) c.2593G>A (p.Glu865Lys) c.-64-6933G>A (n.-64-6933G>A) | COSMIC COSMIC |
| 1 | g.94047023A>C | CA341275485 | ABCA4 | c.2814T>G (p.Phe938Leu) c.2592T>G (p.Phe864Leu) c.-64-6934T>G (n.-64-6934T>G) | |
| 1 | g.94047023A>G | CA418812010 | ABCA4 | c.2814T>C (p.Phe938=) c.2592T>C (p.Phe864=) c.-64-6934T>C (n.-64-6934T>C) | |
| 1 | g.94047023A>T | CA341275486 | ABCA4 | c.2814T>A (p.Phe938Leu) c.2592T>A (p.Phe864Leu) c.-64-6934T>A (n.-64-6934T>A) | |
| 1 | g.94047024A= | CA1142279874 | ABCA4 | c.2813T= (p.Phe938=) c.2591T= (p.Phe864=) c.-64-6935T= (n.-64-6935T=) | |
| 1 | g.94047024A>C | CA341275487 | ABCA4 | c.2813T>G (p.Phe938Cys) c.2591T>G (p.Phe864Cys) c.-64-6935T>G (n.-64-6935T>G) | |
| 1 | g.94047024A>G | CA958148 | ABCA4 | c.2813T>C (p.Phe938Ser) c.2591T>C (p.Phe864Ser) c.-64-6935T>C (n.-64-6935T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047024A>T | CA341275488 | ABCA4 | c.2813T>A (p.Phe938Tyr) c.2591T>A (p.Phe864Tyr) c.-64-6935T>A (n.-64-6935T>A) | |
| 1 | g.94047025A>C | CA341275489 | ABCA4 | c.2812T>G (p.Phe938Val) c.2590T>G (p.Phe864Val) c.-64-6936T>G (n.-64-6936T>G) | |
| 1 | g.94047025A>G | CA341275490 | ABCA4 | c.2812T>C (p.Phe938Leu) c.2590T>C (p.Phe864Leu) c.-64-6936T>C (n.-64-6936T>C) | |
| 1 | g.94047025A>T | CA341275491 | ABCA4 | c.2812T>A (p.Phe938Ile) c.2590T>A (p.Phe864Ile) c.-64-6936T>A (n.-64-6936T>A) | |
| 1 | g.94047026A= | CA1181422626 | ABCA4 | c.2811T= (p.Ile937=) c.2589T= (p.Ile863=) c.-64-6937T= (n.-64-6937T=) | |
| 1 | g.94047026A>C | CA341275492 | ABCA4 | c.2811T>G (p.Ile937Met) c.2589T>G (p.Ile863Met) c.-64-6937T>G (n.-64-6937T>G) | |
| 1 | g.94047026A>G | CA418812035 | ABCA4 | c.2811T>C (p.Ile937=) c.2589T>C (p.Ile863=) c.-64-6937T>C (n.-64-6937T>C) | |
| 1 | g.94047026A>T | CA418812033 | ABCA4 | c.2811T>A (p.Ile937=) c.2589T>A (p.Ile863=) c.-64-6937T>A (n.-64-6937T>A) | dbSNP |
| 1 | g.94047027A= | CA1181422627 | ABCA4 | c.2810T= (p.Ile937=) c.2588T= (p.Ile863=) c.-64-6938T= (n.-64-6938T=) | |
| 1 | g.94047027A>C | CA341275493 | ABCA4 | c.2810T>G (p.Ile937Ser) c.2588T>G (p.Ile863Ser) c.-64-6938T>G (n.-64-6938T>G) | |
| 1 | g.94047027A>G | CA341275494 | ABCA4 | c.2810T>C (p.Ile937Thr) c.2588T>C (p.Ile863Thr) c.-64-6938T>C (n.-64-6938T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94047027A>T | CA341275495 | ABCA4 | c.2810T>A (p.Ile937Asn) c.2588T>A (p.Ile863Asn) c.-64-6938T>A (n.-64-6938T>A) | gnomAD v4 |
| 1 | g.94047028T>A | CA341275497 | ABCA4 | c.2809A>T (p.Ile937Phe) c.2587A>T (p.Ile863Phe) c.-64-6939A>T (n.-64-6939A>T) | |
| 1 | g.94047028T>C | CA341275498 | ABCA4 | c.2809A>G (p.Ile937Val) c.2587A>G (p.Ile863Val) c.-64-6939A>G (n.-64-6939A>G) | |
| 1 | g.94047028T>G | CA341275496 | ABCA4 | c.2809A>C (p.Ile937Leu) c.2587A>C (p.Ile863Leu) c.-64-6939A>C (n.-64-6939A>C) | |
| 1 | g.94047029C>A | CA341275499 | ABCA4 | c.2808G>T (p.Lys936Asn) c.2586G>T (p.Lys862Asn) c.-64-6940G>T (n.-64-6940G>T) | |
| 1 | g.94047029C= | CA1181422628 | ABCA4 | c.2808G= (p.Lys936=) c.2586G= (p.Lys862=) c.-64-6940G= (n.-64-6940G=) | |
| 1 | g.94047029C>G | CA341275500 | ABCA4 | c.2808G>C (p.Lys936Asn) c.2586G>C (p.Lys862Asn) c.-64-6940G>C (n.-64-6940G>C) | ClinVar dbSNP |
| 1 | g.94047029C>T | CA418812061 | ABCA4 | c.2808G>A (p.Lys936=) c.2586G>A (p.Lys862=) c.-64-6940G>A (n.-64-6940G>A) | |
| 1 | g.94047030T>A | CA341275501 | ABCA4 | c.2807A>T (p.Lys936Met) c.2585A>T (p.Lys862Met) c.-64-6941A>T (n.-64-6941A>T) | |
| 1 | g.94047030T>C | CA341275502 | ABCA4 | c.2807A>G (p.Lys936Arg) c.2585A>G (p.Lys862Arg) c.-64-6941A>G (n.-64-6941A>G) | |
| 1 | g.94047030T>G | CA341275503 | ABCA4 | c.2807A>C (p.Lys936Thr) c.2585A>C (p.Lys862Thr) c.-64-6941A>C (n.-64-6941A>C) | gnomAD v4 |
| 1 | g.94047032del | CA2573132718 | ABCA4 | c.2807del (p.Lys936ArgfsTer14) c.2585del (p.Lys862ArgfsTer14) c.-64-6941del (n.-64-6941del) | ClinVar dbSNP |
| 1 | g.94047031T>A | CA341275506 | ABCA4 | c.2806A>T (p.Lys936Ter) c.2584A>T (p.Lys862Ter) c.-64-6942A>T (n.-64-6942A>T) | |
| 1 | g.94047031T>C | CA341275505 | ABCA4 | c.2806A>G (p.Lys936Glu) c.2584A>G (p.Lys862Glu) c.-64-6942A>G (n.-64-6942A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94047031T>G | CA341275504 | ABCA4 | c.2806A>C (p.Lys936Gln) c.2584A>C (p.Lys862Gln) c.-64-6942A>C (n.-64-6942A>C) | |
| 1 | g.94047031T= | CA1181422629 | ABCA4 | c.2806A= (p.Lys936=) c.2584A= (p.Lys862=) c.-64-6942A= (n.-64-6942A=) | |
| 1 | g.94047032T>A | CA418812086 | ABCA4 | c.2805A>T (p.Val935=) c.2583A>T (p.Val861=) c.-64-6943A>T (n.-64-6943A>T) | |
| 1 | g.94047032T>C | CA418812091 | ABCA4 | c.2805A>G (p.Val935=) c.2583A>G (p.Val861=) c.-64-6943A>G (n.-64-6943A>G) | ClinVar gnomAD v4 COSMIC COSMIC |
| 1 | g.94047032T>G | CA418812089 | ABCA4 | c.2805A>C (p.Val935=) c.2583A>C (p.Val861=) c.-64-6943A>C (n.-64-6943A>C) | |
| 1 | g.94047033A= | CA1140725918 | ABCA4 | c.2804T= (p.Val935=) c.2582T= (p.Val861=) c.-64-6944T= (n.-64-6944T=) | |
| 1 | g.94047033A>C | CA341275507 | ABCA4 | c.2804T>G (p.Val935Gly) c.2582T>G (p.Val861Gly) c.-64-6944T>G (n.-64-6944T>G) | |
| 1 | g.94047033A>G | CA227032 | ABCA4 | c.2804T>C (p.Val935Ala) c.2582T>C (p.Val861Ala) c.-64-6944T>C (n.-64-6944T>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.94047033A>T | CA341275508 | ABCA4 | c.2804T>A (p.Val935Glu) c.2582T>A (p.Val861Glu) c.-64-6944T>A (n.-64-6944T>A) | |
| 1 | g.94047034C>A | CA341275509 | ABCA4 | c.2803G>T (p.Val935Leu) c.2581G>T (p.Val861Leu) c.-64-6945G>T (n.-64-6945G>T) | |
| 1 | g.94047034C= | CA1181422630 | ABCA4 | c.2803G= (p.Val935=) c.2581G= (p.Val861=) c.-64-6945G= (n.-64-6945G=) | |
| 1 | g.94047034C>G | CA341275510 | ABCA4 | c.2803G>C (p.Val935Leu) c.2581G>C (p.Val861Leu) c.-64-6945G>C (n.-64-6945G>C) | |
| 1 | g.94047034C>T | CA958149 | ABCA4 | c.2803G>A (p.Val935Ile) c.2581G>A (p.Val861Ile) c.-64-6945G>A (n.-64-6945G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047034_94047035del | CA2646650145 | ABCA4 | c.2802_2803del (p.Val935LysfsTer4) c.2580_2581del (p.Val861LysfsTer4) c.-64-6946_-64-6945del (n.-64-6946_-64-6945del) | gnomAD v4 |
| 1 | g.94047034_94047037delinsA | CA2586966886 | ABCA4 | c.2800_2803delinsT (p.Val935del) c.2578_2581delinsT (p.Val861del) c.-64-6948_-64-6945delinsT (n.-64-6948_-64-6945delinsT) | |
| 1 | g.94047035C>A | CA418812104 | ABCA4 | c.2802G>T (p.Leu934=) c.2580G>T (p.Leu860=) c.-64-6946G>T (n.-64-6946G>T) | |
| 1 | g.94047035C= | CA1181422631 | ABCA4 | c.2802G= (p.Leu934=) c.2580G= (p.Leu860=) c.-64-6946G= (n.-64-6946G=) | |
| 1 | g.94047035C>G | CA418812106 | ABCA4 | c.2802G>C (p.Leu934=) c.2580G>C (p.Leu860=) c.-64-6946G>C (n.-64-6946G>C) | ClinVar |
| 1 | g.94047035C>T | CA418812109 | ABCA4 | c.2802G>A (p.Leu934=) c.2580G>A (p.Leu860=) c.-64-6946G>A (n.-64-6946G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94047036A>C | CA341275513 | ABCA4 | c.2801T>G (p.Leu934Arg) c.2579T>G (p.Leu860Arg) c.-64-6947T>G (n.-64-6947T>G) | |
| 1 | g.94047036A>G | CA341275511 | ABCA4 | c.2801T>C (p.Leu934Pro) c.2579T>C (p.Leu860Pro) c.-64-6947T>C (n.-64-6947T>C) | COSMIC COSMIC |
| 1 | g.94047036A>T | CA341275512 | ABCA4 | c.2801T>A (p.Leu934Gln) c.2579T>A (p.Leu860Gln) c.-64-6947T>A (n.-64-6947T>A) | |
| 1 | g.94047037del | CA2646650148 | ABCA4 | c.2800del (p.Leu934TrpfsTer2) c.2578del (p.Leu860TrpfsTer2) c.-64-6948del (n.-64-6948del) | gnomAD v4 |
| 1 | g.94047037G>A | CA418812117 | ABCA4 | c.2800C>T (p.Leu934=) c.2578C>T (p.Leu860=) c.-64-6948C>T (n.-64-6948C>T) | |
| 1 | g.94047037G>C | CA341275514 | ABCA4 | c.2800C>G (p.Leu934Val) c.2578C>G (p.Leu860Val) c.-64-6948C>G (n.-64-6948C>G) | |
| 1 | g.94047037G>T | CA341275515 | ABCA4 | c.2800C>A (p.Leu934Met) c.2578C>A (p.Leu860Met) c.-64-6948C>A (n.-64-6948C>A) | |
| 1 | g.94047038A>C | CA341275516 | ABCA4 | c.2799T>G (p.Asn933Lys) c.2577T>G (p.Asn859Lys) c.-64-6949T>G (n.-64-6949T>G) | |
| 1 | g.94047038A>G | CA418812126 | ABCA4 | c.2799T>C (p.Asn933=) c.2577T>C (p.Asn859=) c.-64-6949T>C (n.-64-6949T>C) | |
| 1 | g.94047038A>T | CA341275517 | ABCA4 | c.2799T>A (p.Asn933Lys) c.2577T>A (p.Asn859Lys) c.-64-6949T>A (n.-64-6949T>A) | |
| 1 | g.94047039T>A | CA345716 | ABCA4 | c.2798A>T (p.Asn933Ile) c.2576A>T (p.Asn859Ile) c.-64-6950A>T (n.-64-6950A>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94047039T>C | CA341275518 | ABCA4 | c.2798A>G (p.Asn933Ser) c.2576A>G (p.Asn859Ser) c.-64-6950A>G (n.-64-6950A>G) | |
| 1 | g.94047039T>G | CA341275519 | ABCA4 | c.2798A>C (p.Asn933Thr) c.2576A>C (p.Asn859Thr) c.-64-6950A>C (n.-64-6950A>C) | |
| 1 | g.94047039T= | CA1144233004 | ABCA4 | c.2798A= (p.Asn933=) c.2576A= (p.Asn859=) c.-64-6950A= (n.-64-6950A=) | |
| 1 | g.94047040T>A | CA341275520 | ABCA4 | c.2797A>T (p.Asn933Tyr) c.2575A>T (p.Asn859Tyr) c.-64-6951A>T (n.-64-6951A>T) | |
| 1 | g.94047040T>C | CA341275521 | ABCA4 | c.2797A>G (p.Asn933Asp) c.2575A>G (p.Asn859Asp) c.-64-6951A>G (n.-64-6951A>G) | |
| 1 | g.94047040T>G | CA341275522 | ABCA4 | c.2797A>C (p.Asn933His) c.2575A>C (p.Asn859His) c.-64-6951A>C (n.-64-6951A>C) | |
| 1 | g.94047041C>A | CA341275523 | ABCA4 | c.2796G>T (p.Lys932Asn) c.2574G>T (p.Lys858Asn) c.-64-6952G>T (n.-64-6952G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94047041C= | CA1181422632 | ABCA4 | c.2796G= (p.Lys932=) c.2574G= (p.Lys858=) c.-64-6952G= (n.-64-6952G=) | |
| 1 | g.94047041C>G | CA341275524 | ABCA4 | c.2796G>C (p.Lys932Asn) c.2574G>C (p.Lys858Asn) c.-64-6952G>C (n.-64-6952G>C) | |
| 1 | g.94047041C>T | CA958150 | ABCA4 | c.2796G>A (p.Lys932=) c.2574G>A (p.Lys858=) c.-64-6952G>A (n.-64-6952G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94047042T>A | CA341275525 | ABCA4 | c.2795A>T (p.Lys932Met) c.2573A>T (p.Lys858Met) c.-64-6953A>T (n.-64-6953A>T) | |
| 1 | g.94047042T>C | CA958151 | ABCA4 | c.2795A>G (p.Lys932Arg) c.2573A>G (p.Lys858Arg) c.-64-6953A>G (n.-64-6953A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94047042T>G | CA341275526 | ABCA4 | c.2795A>C (p.Lys932Thr) c.2573A>C (p.Lys858Thr) c.-64-6953A>C (n.-64-6953A>C) | |
| 1 | g.94047042T= | CA1181422633 | ABCA4 | c.2795A= (p.Lys932=) c.2573A= (p.Lys858=) c.-64-6953A= (n.-64-6953A=) | |
| 1 | g.94047043T>A | CA341275527 | ABCA4 | c.2794A>T (p.Lys932Ter) c.2572A>T (p.Lys858Ter) c.-64-6954A>T (n.-64-6954A>T) | |
| 1 | g.94047043T>C | CA341275528 | ABCA4 | c.2794A>G (p.Lys932Glu) c.2572A>G (p.Lys858Glu) c.-64-6954A>G (n.-64-6954A>G) | |
| 1 | g.94047043T>G | CA341275529 | ABCA4 | c.2794A>C (p.Lys932Gln) c.2572A>C (p.Lys858Gln) c.-64-6954A>C (n.-64-6954A>C) | |
| 1 | g.94047044C>A | CA418812152 | ABCA4 | c.2793G>T (p.Val931=) c.2571G>T (p.Val857=) c.-64-6955G>T (n.-64-6955G>T) | |
| 1 | g.94047044C>G | CA418812154 | ABCA4 | c.2793G>C (p.Val931=) c.2571G>C (p.Val857=) c.-64-6955G>C (n.-64-6955G>C) | |
| 1 | g.94047044C>T | CA418812157 | ABCA4 | c.2793G>A (p.Val931=) c.2571G>A (p.Val857=) c.-64-6955G>A (n.-64-6955G>A) | |
| 1 | g.94047045A= | CA1147789752 | ABCA4 | c.2792T= (p.Val931=) c.2570T= (p.Val857=) c.-64-6956T= (n.-64-6956T=) | |
| 1 | g.94047045A>C | CA341275530 | ABCA4 | c.2792T>G (p.Val931Gly) c.2570T>G (p.Val857Gly) c.-64-6956T>G (n.-64-6956T>G) | |
| 1 | g.94047045A>G | CA958152 | ABCA4 | c.2792T>C (p.Val931Ala) c.2570T>C (p.Val857Ala) c.-64-6956T>C (n.-64-6956T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047045A>T | CA341275531 | ABCA4 | c.2792T>A (p.Val931Glu) c.2570T>A (p.Val857Glu) c.-64-6956T>A (n.-64-6956T>A) | |
| 1 | g.94047046C>A | CA26840893 | ABCA4 | c.2791G>T (p.Val931Leu) c.2569G>T (p.Val857Leu) c.-64-6957G>T (n.-64-6957G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047046C= | CA1140670445 | ABCA4 | c.2791G= (p.Val931=) c.2569G= (p.Val857=) c.-64-6957G= (n.-64-6957G=) | |
| 1 | g.94047046C>G | CA341275532 | ABCA4 | c.2791G>C (p.Val931Leu) c.2569G>C (p.Val857Leu) c.-64-6957G>C (n.-64-6957G>C) | gnomAD v4 |
| 1 | g.94047046C>T | CA227031 | ABCA4 | c.2791G>A (p.Val931Met) c.2569G>A (p.Val857Met) c.-64-6957G>A (n.-64-6957G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047047G>A | CA958153 | ABCA4 | c.2790C>T (p.Cys930=) c.2568C>T (p.Cys856=) c.-64-6958C>T (n.-64-6958C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.94047047G>C | CA341275533 | ABCA4 | c.2790C>G (p.Cys930Trp) c.2568C>G (p.Cys856Trp) c.-64-6958C>G (n.-64-6958C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94047047G= | CA1181422634 | ABCA4 | c.2790C= (p.Cys930=) c.2568C= (p.Cys856=) c.-64-6958C= (n.-64-6958C=) | |
| 1 | g.94047047G>T | CA341275534 | ABCA4 | c.2790C>A (p.Cys930Ter) c.2568C>A (p.Cys856Ter) c.-64-6958C>A (n.-64-6958C>A) | |
| 1 | g.94047047_94047050del | CA2744618308 | ABCA4 | c.2787_2790del (p.Cys930Ter) c.2565_2568del (p.Cys856Ter) c.-64-6961_-64-6958del (n.-64-6961_-64-6958del) | |
| 1 | g.94047048C>A | CA341275537 | ABCA4 | c.2789G>T (p.Cys930Phe) c.2567G>T (p.Cys856Phe) c.-64-6959G>T (n.-64-6959G>T) | |
| 1 | g.94047048C>G | CA341275536 | ABCA4 | c.2789G>C (p.Cys930Ser) c.2567G>C (p.Cys856Ser) c.-64-6959G>C (n.-64-6959G>C) | |
| 1 | g.94047048C>T | CA341275535 | ABCA4 | c.2789G>A (p.Cys930Tyr) c.2567G>A (p.Cys856Tyr) c.-64-6959G>A (n.-64-6959G>A) | |
| 1 | g.94047049A>C | CA341275538 | ABCA4 | c.2788T>G (p.Cys930Gly) c.2566T>G (p.Cys856Gly) c.-64-6960T>G (n.-64-6960T>G) | |
| 1 | g.94047049A>G | CA341275539 | ABCA4 | c.2788T>C (p.Cys930Arg) c.2566T>C (p.Cys856Arg) c.-64-6960T>C (n.-64-6960T>C) | gnomAD v4 |
| 1 | g.94047049A>T | CA341275540 | ABCA4 | c.2788T>A (p.Cys930Ser) c.2566T>A (p.Cys856Ser) c.-64-6960T>A (n.-64-6960T>A) | ClinVar dbSNP |
| 1 | g.94047050T>A | CA418812195 | ABCA4 | c.2787A>T (p.Val929=) c.2565A>T (p.Val855=) c.-64-6961A>T (n.-64-6961A>T) | |
| 1 | g.94047050T>C | CA418812198 | ABCA4 | c.2787A>G (p.Val929=) c.2565A>G (p.Val855=) c.-64-6961A>G (n.-64-6961A>G) | |
| 1 | g.94047050T>G | CA418812197 | ABCA4 | c.2787A>C (p.Val929=) c.2565A>C (p.Val855=) c.-64-6961A>C (n.-64-6961A>C) | |
| 1 | g.94047051A= | CA1181422635 | ABCA4 | c.2786T= (p.Val929=) c.2564T= (p.Val855=) c.-64-6962T= (n.-64-6962T=) | |
| 1 | g.94047051A>C | CA341275541 | ABCA4 | c.2786T>G (p.Val929Gly) c.2564T>G (p.Val855Gly) c.-64-6962T>G (n.-64-6962T>G) | |
| 1 | g.94047051A>G | CA958154 | ABCA4 | c.2786T>C (p.Val929Ala) c.2564T>C (p.Val855Ala) c.-64-6962T>C (n.-64-6962T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94047051A>T | CA341275542 | ABCA4 | c.2786T>A (p.Val929Glu) c.2564T>A (p.Val855Glu) c.-64-6962T>A (n.-64-6962T>A) | |
| 1 | g.94047052C>A | CA341275543 | ABCA4 | c.2785G>T (p.Val929Leu) c.2563G>T (p.Val855Leu) c.-64-6963G>T (n.-64-6963G>T) | |
| 1 | g.94047052C= | CA1181422636 | ABCA4 | c.2785G= (p.Val929=) c.2563G= (p.Val855=) c.-64-6963G= (n.-64-6963G=) | |
| 1 | g.94047052C>G | CA341275544 | ABCA4 | c.2785G>C (p.Val929Leu) c.2563G>C (p.Val855Leu) c.-64-6963G>C (n.-64-6963G>C) | |
| 1 | g.94047052C>T | CA958155 | ABCA4 | c.2785G>A (p.Val929Ile) c.2563G>A (p.Val855Ile) c.-64-6963G>A (n.-64-6963G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94047055dup | CA2580063350 | ABCA4 | c.2785dup (p.Val929GlyfsTer11) c.2563dup (p.Val855GlyfsTer11) c.-64-6963dup (n.-64-6963dup) | ClinVar |
| 1 | g.94047053C>A | CA418812221 | ABCA4 | c.2784G>T (p.Gly928=) c.2562G>T (p.Gly854=) c.-64-6964G>T (n.-64-6964G>T) | |
| 1 | g.94047053C>G | CA418812228 | ABCA4 | c.2784G>C (p.Gly928=) c.2562G>C (p.Gly854=) c.-64-6964G>C (n.-64-6964G>C) | |
| 1 | g.94047053C>T | CA418812231 | ABCA4 | c.2784G>A (p.Gly928=) c.2562G>A (p.Gly854=) c.-64-6964G>A (n.-64-6964G>A) | ClinVar gnomAD v4 |
| 1 | g.94047054C>A | CA341275545 | ABCA4 | c.2783G>T (p.Gly928Val) c.2561G>T (p.Gly854Val) c.-64-6965G>T (n.-64-6965G>T) | |
| 1 | g.94047054C>G | CA341275546 | ABCA4 | c.2783G>C (p.Gly928Ala) c.2561G>C (p.Gly854Ala) c.-64-6965G>C (n.-64-6965G>C) | |
| 1 | g.94047054C>T | CA341275547 | ABCA4 | c.2783G>A (p.Gly928Glu) c.2561G>A (p.Gly854Glu) c.-64-6965G>A (n.-64-6965G>A) | gnomAD v4 |
| 1 | g.94047055C>A | CA220679 | ABCA4 | c.2782G>T (p.Gly928Trp) c.2560G>T (p.Gly854Trp) c.-64-6966G>T (n.-64-6966G>T) | ClinVar dbSNP |
| 1 | g.94047055C= | CA1144233005 | ABCA4 | c.2782G= (p.Gly928=) c.2560G= (p.Gly854=) c.-64-6966G= (n.-64-6966G=) | |
| 1 | g.94047055C>G | CA341275549 | ABCA4 | c.2782G>C (p.Gly928Arg) c.2560G>C (p.Gly854Arg) c.-64-6966G>C (n.-64-6966G>C) | |
| 1 | g.94047055C>T | CA341275548 | ABCA4 | c.2782G>A (p.Gly928Arg) c.2560G>A (p.Gly854Arg) c.-64-6966G>A (n.-64-6966G>A) | |
| 1 | g.94047056A= | CA1181422637 | ABCA4 | c.2781T= (p.Pro927=) c.2559T= (p.Pro853=) c.-64-6967T= (n.-64-6967T=) | |
| 1 | g.94047056A>C | CA418812247 | ABCA4 | c.2781T>G (p.Pro927=) c.2559T>G (p.Pro853=) c.-64-6967T>G (n.-64-6967T>G) | |
| 1 | g.94047056A>G | CA418812250 | ABCA4 | c.2781T>C (p.Pro927=) c.2559T>C (p.Pro853=) c.-64-6967T>C (n.-64-6967T>C) | ClinVar dbSNP |
| 1 | g.94047056A>T | CA418812252 | ABCA4 | c.2781T>A (p.Pro927=) c.2559T>A (p.Pro853=) c.-64-6967T>A (n.-64-6967T>A) | |
| 1 | g.94047057G>A | CA341275550 | ABCA4 | c.2780C>T (p.Pro927Leu) c.2558C>T (p.Pro853Leu) c.-64-6968C>T (n.-64-6968C>T) | gnomAD v4 |
| 1 | g.94047057G>C | CA341275552 | ABCA4 | c.2780C>G (p.Pro927Arg) c.2558C>G (p.Pro853Arg) c.-64-6968C>G (n.-64-6968C>G) | |
| 1 | g.94047057G>T | CA341275551 | ABCA4 | c.2780C>A (p.Pro927His) c.2558C>A (p.Pro853His) c.-64-6968C>A (n.-64-6968C>A) | |
| 1 | g.94047058G>A | CA26840906 | ABCA4 | c.2779C>T (p.Pro927Ser) c.2557C>T (p.Pro853Ser) c.-64-6969C>T (n.-64-6969C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94047058G>C | CA341275554 | ABCA4 | c.2779C>G (p.Pro927Ala) c.2557C>G (p.Pro853Ala) c.-64-6969C>G (n.-64-6969C>G) | |
| 1 | g.94047058G= | CA1181422638 | ABCA4 | c.2779C= (p.Pro927=) c.2557C= (p.Pro853=) c.-64-6969C= (n.-64-6969C=) | |
| 1 | g.94047058G>T | CA341275553 | ABCA4 | c.2779C>A (p.Pro927Thr) c.2557C>A (p.Pro853Thr) c.-64-6969C>A (n.-64-6969C>A) | |
| 1 | g.94047059A= | CA1181422639 | ABCA4 | c.2778T= (p.Val926=) c.2556T= (p.Val852=) c.-64-6970T= (n.-64-6970T=) | |
| 1 | g.94047059A>C | CA418812286 | ABCA4 | c.2778T>G (p.Val926=) c.2556T>G (p.Val852=) c.-64-6970T>G (n.-64-6970T>G) | |
| 1 | g.94047059A>G | CA958156 | ABCA4 | c.2778T>C (p.Val926=) c.2556T>C (p.Val852=) c.-64-6970T>C (n.-64-6970T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94047059A>T | CA418812284 | ABCA4 | c.2778T>A (p.Val926=) c.2556T>A (p.Val852=) c.-64-6970T>A (n.-64-6970T>A) |