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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.93997920_94002690del | CA10576058 | ABCA4 | c.6148-698_6670del c.2524-698_3046del | ClinVar |
| 1 | g.93997920_94002690delinsCTAGGGAGGTGCACA | CA645372243 | ABCA4 | c.6148-698_6670delinsTGTGCACCTCCCTAG c.2524-698_3046delinsTGTGCACCTCCCTAG | |
| 1 | g.93998092G>A | CA956853 | ABCA4 | c.6498C>T (p.Ile2166=) c.2874C>T (p.Ile958=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998092G>C | CA227410 | ABCA4 | c.6498C>G (p.Ile2166Met) c.2874C>G (p.Ile958Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998092G= | CA1140725950 | ABCA4 | c.6498C= (p.Ile2166=) c.2874C= (p.Ile958=) | |
| 1 | g.93998092G>T | CA418809320 | ABCA4 | c.6498C>A (p.Ile2166=) c.2874C>A (p.Ile958=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.93998092_93998094del | CA2744613799 | ABCA4 | c.6496_6498del (p.Ile2166del) c.2872_2874del (p.Ile958del) | |
| 1 | g.93998093A>C | CA341276720 | ABCA4 | c.6497T>G (p.Ile2166Ser) c.2873T>G (p.Ile958Ser) | |
| 1 | g.93998093A>G | CA341276721 | ABCA4 | c.6497T>C (p.Ile2166Thr) c.2873T>C (p.Ile958Thr) | |
| 1 | g.93998093A>T | CA341276722 | ABCA4 | c.6497T>A (p.Ile2166Asn) c.2873T>A (p.Ile958Asn) | |
| 1 | g.93998094T>A | CA341276723 | ABCA4 | c.6496A>T (p.Ile2166Phe) c.2872A>T (p.Ile958Phe) | |
| 1 | g.93998094T>C | CA956854 | ABCA4 | c.6496A>G (p.Ile2166Val) c.2872A>G (p.Ile958Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998094T>G | CA341276724 | ABCA4 | c.6496A>C (p.Ile2166Leu) c.2872A>C (p.Ile958Leu) | |
| 1 | g.93998094T= | CA1143432026 | ABCA4 | c.6496A= (p.Ile2166=) c.2872A= (p.Ile958=) | |
| 1 | g.93998095A= | CA1143395194 | ABCA4 | c.6495T= (p.Tyr2165=) c.2871T= (p.Tyr957=) | |
| 1 | g.93998095A>C | CA341276726 | ABCA4 | c.6495T>G (p.Tyr2165Ter) c.2871T>G (p.Tyr957Ter) | |
| 1 | g.93998095A>G | CA956855 | ABCA4 | c.6495T>C (p.Tyr2165=) c.2871T>C (p.Tyr957=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998095A>T | CA341276725 | ABCA4 | c.6495T>A (p.Tyr2165Ter) c.2871T>A (p.Tyr957Ter) | |
| 1 | g.93998096T>A | CA341276727 | ABCA4 | c.6494A>T (p.Tyr2165Phe) c.2870A>T (p.Tyr957Phe) | |
| 1 | g.93998096T>C | CA26829093 | ABCA4 | c.6494A>G (p.Tyr2165Cys) c.2870A>G (p.Tyr957Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.93998096T>G | CA341276728 | ABCA4 | c.6494A>C (p.Tyr2165Ser) c.2870A>C (p.Tyr957Ser) | |
| 1 | g.93998096T= | CA1181395383 | ABCA4 | c.6494A= (p.Tyr2165=) c.2870A= (p.Tyr957=) | |
| 1 | g.93998097A>C | CA341276729 | ABCA4 | c.6493T>G (p.Tyr2165Asp) c.2869T>G (p.Tyr957Asp) | |
| 1 | g.93998097A>G | CA341276730 | ABCA4 | c.6493T>C (p.Tyr2165His) c.2869T>C (p.Tyr957His) | |
| 1 | g.93998097A>T | CA341276731 | ABCA4 | c.6493T>A (p.Tyr2165Asn) c.2869T>A (p.Tyr957Asn) | |
| 1 | g.93998098G>A | CA956856 | ABCA4 | c.6492C>T (p.Gly2164=) c.2868C>T (p.Gly956=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.93998098G>C | CA418809347 | ABCA4 | c.6492C>G (p.Gly2164=) c.2868C>G (p.Gly956=) | |
| 1 | g.93998098G= | CA1181395387 | ABCA4 | c.6492C= (p.Gly2164=) c.2868C= (p.Gly956=) | |
| 1 | g.93998098G>T | CA418809350 | ABCA4 | c.6492C>A (p.Gly2164=) c.2868C>A (p.Gly956=) | |
| 1 | g.93998099C>A | CA341276734 | ABCA4 | c.6491G>T (p.Gly2164Val) c.2867G>T (p.Gly956Val) | |
| 1 | g.93998099C= | CA1181395391 | ABCA4 | c.6491G= (p.Gly2164=) c.2867G= (p.Gly956=) | |
| 1 | g.93998099C>G | CA341276732 | ABCA4 | c.6491G>C (p.Gly2164Ala) c.2867G>C (p.Gly956Ala) | gnomAD v4 |
| 1 | g.93998099C>T | CA341276733 | ABCA4 | c.6491G>A (p.Gly2164Asp) c.2867G>A (p.Gly956Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.93998100C>A | CA341276735 | ABCA4 | c.6490G>T (p.Gly2164Cys) c.2866G>T (p.Gly956Cys) | |
| 1 | g.93998100C= | CA1181395393 | ABCA4 | c.6490G= (p.Gly2164=) c.2866G= (p.Gly956=) | |
| 1 | g.93998100C>G | CA341276736 | ABCA4 | c.6490G>C (p.Gly2164Arg) c.2866G>C (p.Gly956Arg) | |
| 1 | g.93998100C>T | CA341276737 | ABCA4 | c.6490G>A (p.Gly2164Ser) c.2866G>A (p.Gly956Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.93998101A>C | CA341276738 | ABCA4 | c.6489T>G (p.Asp2163Glu) c.2865T>G (p.Asp955Glu) | |
| 1 | g.93998101A>G | CA418809359 | ABCA4 | c.6489T>C (p.Asp2163=) c.2865T>C (p.Asp955=) | dbSNP |
| 1 | g.93998101A>T | CA341276739 | ABCA4 | c.6489T>A (p.Asp2163Glu) c.2865T>A (p.Asp955Glu) | |
| 1 | g.93998102T>A | CA341276740 | ABCA4 | c.6488A>T (p.Asp2163Val) c.2864A>T (p.Asp955Val) | |
| 1 | g.93998102T>C | CA341276742 | ABCA4 | c.6488A>G (p.Asp2163Gly) c.2864A>G (p.Asp955Gly) | dbSNP gnomAD v4 |
| 1 | g.93998102T>G | CA341276741 | ABCA4 | c.6488A>C (p.Asp2163Ala) c.2864A>C (p.Asp955Ala) | |
| 1 | g.93998103C>A | CA341276743 | ABCA4 | c.6487G>T (p.Asp2163Tyr) c.2863G>T (p.Asp955Tyr) | |
| 1 | g.93998103C= | CA1181395395 | ABCA4 | c.6487G= (p.Asp2163=) c.2863G= (p.Asp955=) | |
| 1 | g.93998103C>G | CA341276744 | ABCA4 | c.6487G>C (p.Asp2163His) c.2863G>C (p.Asp955His) | |
| 1 | g.93998103C>T | CA26829098 | ABCA4 | c.6487G>A (p.Asp2163Asn) c.2863G>A (p.Asp955Asn) | dbSNP |
| 1 | g.93998104T>A | CA418809370 | ABCA4 | c.6486A>T (p.Gly2162=) c.2862A>T (p.Gly954=) | gnomAD v4 |
| 1 | g.93998104T>C | CA418809372 | ABCA4 | c.6486A>G (p.Gly2162=) c.2862A>G (p.Gly954=) | |
| 1 | g.93998104T>G | CA418809373 | ABCA4 | c.6486A>C (p.Gly2162=) c.2862A>C (p.Gly954=) | |
| 1 | g.93998105C>A | CA341276745 | ABCA4 | c.6485G>T (p.Gly2162Val) c.2861G>T (p.Gly954Val) | |
| 1 | g.93998105C>G | CA341276746 | ABCA4 | c.6485G>C (p.Gly2162Ala) c.2861G>C (p.Gly954Ala) | gnomAD v4 |
| 1 | g.93998105C>T | CA341276747 | ABCA4 | c.6485G>A (p.Gly2162Glu) c.2861G>A (p.Gly954Glu) | |
| 1 | g.93998106C>A | CA341276748 | ABCA4 | c.6484G>T (p.Gly2162Ter) c.2860G>T (p.Gly954Ter) | |
| 1 | g.93998106C= | CA1145618261 | ABCA4 | c.6484G= (p.Gly2162=) c.2860G= (p.Gly954=) | |
| 1 | g.93998106C>G | CA341276749 | ABCA4 | c.6484G>C (p.Gly2162Arg) c.2860G>C (p.Gly954Arg) | |
| 1 | g.93998106C>T | CA956857 | ABCA4 | c.6484G>A (p.Gly2162Arg) c.2860G>A (p.Gly954Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998107A>C | CA341276750 | ABCA4 | c.6483T>G (p.Phe2161Leu) c.2859T>G (p.Phe953Leu) | |
| 1 | g.93998107A>G | CA418809382 | ABCA4 | c.6483T>C (p.Phe2161=) c.2859T>C (p.Phe953=) | |
| 1 | g.93998107A>T | CA341276751 | ABCA4 | c.6483T>A (p.Phe2161Leu) c.2859T>A (p.Phe953Leu) | |
| 1 | g.93998108A>C | CA341276754 | ABCA4 | c.6482T>G (p.Phe2161Cys) c.2858T>G (p.Phe953Cys) | |
| 1 | g.93998108A>G | CA341276753 | ABCA4 | c.6482T>C (p.Phe2161Ser) c.2858T>C (p.Phe953Ser) | |
| 1 | g.93998108A>T | CA341276752 | ABCA4 | c.6482T>A (p.Phe2161Tyr) c.2858T>A (p.Phe953Tyr) | |
| 1 | g.93998109A>C | CA341276755 | ABCA4 | c.6481T>G (p.Phe2161Val) c.2857T>G (p.Phe953Val) | |
| 1 | g.93998109A>G | CA341276757 | ABCA4 | c.6481T>C (p.Phe2161Leu) c.2857T>C (p.Phe953Leu) | |
| 1 | g.93998109A>T | CA341276756 | ABCA4 | c.6481T>A (p.Phe2161Ile) c.2857T>A (p.Phe953Ile) | |
| 1 | g.93998110T>A | CA341276758 | ABCA4 | c.6480A>T (p.Lys2160Asn) c.2856A>T (p.Lys952Asn) | |
| 1 | g.93998110T>C | CA418809393 | ABCA4 | c.6480A>G (p.Lys2160=) c.2856A>G (p.Lys952=) | |
| 1 | g.93998110T>G | CA341276759 | ABCA4 | c.6480A>C (p.Lys2160Asn) c.2856A>C (p.Lys952Asn) | |
| 1 | g.93998111C>A | CA341276760 | ABCA4 | c.6480-1G>T (n.6480-1G>T) c.2856-1G>T (n.2856-1G>T) | |
| 1 | g.93998111C>G | CA341276761 | ABCA4 | c.6480-1G>C (n.6480-1G>C) c.2856-1G>C (n.2856-1G>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.93998111C>T | CA341276762 | ABCA4 | c.6480-1G>A (n.6480-1G>A) c.2856-1G>A (n.2856-1G>A) | |
| 1 | g.93998112T>A | CA341276763 | ABCA4 | c.6480-2A>T (n.6480-2A>T) c.2856-2A>T (n.2856-2A>T) | |
| 1 | g.93998112T>C | CA341276764 | ABCA4 | c.6480-2A>G (n.6480-2A>G) c.2856-2A>G (n.2856-2A>G) | |
| 1 | g.93998112T>G | CA341276765 | ABCA4 | c.6480-2A>C (n.6480-2A>C) c.2856-2A>C (n.2856-2A>C) | |
| 1 | g.93998113A>G | CA2586967023 | ABCA4 | c.6480-3T>C (n.6480-3T>C) c.2856-3T>C (n.2856-3T>C) | |
| 1 | g.93998115G>A | CA1181395400 | ABCA4 | c.6480-5C>T (n.6480-5C>T) c.2856-5C>T (n.2856-5C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.93998115G= | CA1181395398 | ABCA4 | c.6480-5C= (n.6480-5C=) c.2856-5C= (n.2856-5C=) | |
| 1 | g.93998118A= | CA1181395402 | ABCA4 | c.6480-8T= (n.6480-8T=) c.2856-8T= (n.2856-8T=) | |
| 1 | g.93998118A>G | CA524382092 | ABCA4 | c.6480-8T>C (n.6480-8T>C) c.2856-8T>C (n.2856-8T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998118A>T | CA1181395403 | ABCA4 | c.6480-8T>A (n.6480-8T>A) c.2856-8T>A (n.2856-8T>A) | dbSNP |
| 1 | g.93998119T>G | CA2499214873 | ABCA4 | c.6480-9A>C (n.6480-9A>C) c.2856-9A>C (n.2856-9A>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.93998120G>A | CA2646644817 | ABCA4 | c.6480-10C>T (n.6480-10C>T) c.2856-10C>T (n.2856-10C>T) | gnomAD v4 |
| 1 | g.93998120G>C | CA956858 | ABCA4 | c.6480-10C>G (n.6480-10C>G) c.2856-10C>G (n.2856-10C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.93998120G= | CA1181395407 | ABCA4 | c.6480-10C= (n.6480-10C=) c.2856-10C= (n.2856-10C=) | |
| 1 | g.93998121C>T | CA2646644818 | ABCA4 | c.6480-11G>A (n.6480-11G>A) c.2856-11G>A (n.2856-11G>A) | ClinVar gnomAD v4 |
| 1 | g.93998121_93998123del | CA524382093 | ABCA4 | c.6480-13_6480-11del (n.6480-13_6480-11del) c.2856-13_2856-11del (n.2856-13_2856-11del) | gnomAD v2 gnomAD v4 |
| 1 | g.93998122A>G | CA2646644819 | ABCA4 | c.6480-12T>C (n.6480-12T>C) c.2856-12T>C (n.2856-12T>C) | gnomAD v4 |
| 1 | g.93998123C>T | CA2646644820 | ABCA4 | c.6480-13G>A (n.6480-13G>A) c.2856-13G>A (n.2856-13G>A) | gnomAD v4 |
| 1 | g.93998128_93998137del | CA2646644821 | ABCA4 | c.6480-23_6480-14del (n.6480-23_6480-14del) c.2856-23_2856-14del (n.2856-23_2856-14del) | gnomAD v4 |
| 1 | g.93998128_93998132dup | CA2574437811 | ABCA4 | c.6480-19_6480-15dup (n.6480-19_6480-15dup) c.2856-19_2856-15dup (n.2856-19_2856-15dup) | |
| 1 | g.93998126A= | CA1181395408 | ABCA4 | c.6480-16T= (n.6480-16T=) c.2856-16T= (n.2856-16T=) | |
| 1 | g.93998126A>G | CA1181395409 | ABCA4 | c.6480-16T>C (n.6480-16T>C) c.2856-16T>C (n.2856-16T>C) | dbSNP |
| 1 | g.93998130C>A | CA956859 | ABCA4 | c.6480-20G>T (n.6480-20G>T) c.2856-20G>T (n.2856-20G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.93998130C= | CA1181395412 | ABCA4 | c.6480-20G= (n.6480-20G=) c.2856-20G= (n.2856-20G=) | |
| 1 | g.93998130C>T | CA2696434143 | ABCA4 | c.6480-20G>A (n.6480-20G>A) c.2856-20G>A (n.2856-20G>A) | dbSNP |
| 1 | g.93998131del | CA2696564006 | ABCA4 | c.6480-21del (n.6480-21del) c.2856-21del (n.2856-21del) | dbSNP |
| 1 | g.93998131A= | CA1181395414 | ABCA4 | c.6480-21T= (n.6480-21T=) c.2856-21T= (n.2856-21T=) | |
| 1 | g.93998131A>G | CA1181395415 | ABCA4 | c.6480-21T>C (n.6480-21T>C) c.2856-21T>C (n.2856-21T>C) | dbSNP |
| 1 | g.93998133del | CA2744613800 | ABCA4 | c.6480-22del (n.6480-22del) c.2856-22del (n.2856-22del) | |
| 1 | g.93998132_93998133insT | CA2545499064 | ABCA4 | c.6480-23_6480-22insA (n.6480-23_6480-22insA) c.2856-23_2856-22insA (n.2856-23_2856-22insA) | |
| 1 | g.93998133G>C | CA956860 | ABCA4 | c.6480-23C>G (n.6480-23C>G) c.2856-23C>G (n.2856-23C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998133G= | CA1143742600 | ABCA4 | c.6480-23C= (n.6480-23C=) c.2856-23C= (n.2856-23C=) | |
| 1 | g.93998133_93998134insTGC | CA2553993491 | ABCA4 | c.6480-24_6480-23insGCA (n.6480-24_6480-23insGCA) c.2856-24_2856-23insGCA (n.2856-24_2856-23insGCA) | |
| 1 | g.93998135C>G | CA2511037088 | ABCA4 | c.6480-25G>C (n.6480-25G>C) c.2856-25G>C (n.2856-25G>C) | |
| 1 | g.93998135_93998137del | CA2744613801 | ABCA4 | c.6480-27_6480-25del (n.6480-27_6480-25del) c.2856-27_2856-25del (n.2856-27_2856-25del) | |
| 1 | g.93998136_93998137del | CA2744613802 | ABCA4 | c.6480-27_6480-26del (n.6480-27_6480-26del) c.2856-27_2856-26del (n.2856-27_2856-26del) | |
| 1 | g.93998138G>C | CA2646644822 | ABCA4 | c.6480-28C>G (n.6480-28C>G) c.2856-28C>G (n.2856-28C>G) | gnomAD v4 |
| 1 | g.93998139C>A | CA524382094 | ABCA4 | c.6480-29G>T (n.6480-29G>T) c.2856-29G>T (n.2856-29G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998139C= | CA1181395419 | ABCA4 | c.6480-29G= (n.6480-29G=) c.2856-29G= (n.2856-29G=) | |
| 1 | g.93998139C>T | CA2744613803 | ABCA4 | c.6480-29G>A (n.6480-29G>A) c.2856-29G>A (n.2856-29G>A) | |
| 1 | g.93998139_93998141delinsCCT | CA1181395418 | ABCA4 | c.6480-31_6480-29delinsAGG (n.6480-31_6480-29delinsAGG) c.2856-31_2856-29delinsAGG (n.2856-31_2856-29delinsAGG) | |
| 1 | g.93998140C= | CA1181395423 | ABCA4 | c.6480-30G= (n.6480-30G=) c.2856-30G= (n.2856-30G=) | |
| 1 | g.93998140C>T | CA1004570137 | ABCA4 | c.6480-30G>A (n.6480-30G>A) c.2856-30G>A (n.2856-30G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.93998142_93998143del | CA524382095 | ABCA4 | c.6480-31_6480-30del (n.6480-31_6480-30del) c.2856-31_2856-30del (n.2856-31_2856-30del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.93998141_93998146del | CA2744613804 | ABCA4 | c.6480-36_6480-31del (n.6480-36_6480-31del) c.2856-36_2856-31del (n.2856-36_2856-31del) | |
| 1 | g.93998142C= | CA1181395426 | ABCA4 | c.6480-32G= (n.6480-32G=) c.2856-32G= (n.2856-32G=) | |
| 1 | g.93998142C>G | CA2646644823 | ABCA4 | c.6480-32G>C (n.6480-32G>C) c.2856-32G>C (n.2856-32G>C) | gnomAD v4 |
| 1 | g.93998142C>T | CA524382096 | ABCA4 | c.6480-32G>A (n.6480-32G>A) c.2856-32G>A (n.2856-32G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.93998143_93998144insA | CA2744613805 | ABCA4 | c.6480-34_6480-33insT (n.6480-34_6480-33insT) c.2856-34_2856-33insT (n.2856-34_2856-33insT) | |
| 1 | g.93998144G>A | CA524382097 | ABCA4 | c.6480-34C>T (n.6480-34C>T) c.2856-34C>T (n.2856-34C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.93998144G>C | CA2744613806 | ABCA4 | c.6480-34C>G (n.6480-34C>G) c.2856-34C>G (n.2856-34C>G) | |
| 1 | g.93998144G= | CA1181395429 | ABCA4 | c.6480-34C= (n.6480-34C=) c.2856-34C= (n.2856-34C=) | |
| 1 | g.93998145T>A | CA1181395432 | ABCA4 | c.6480-35A>T (n.6480-35A>T) c.2856-35A>T (n.2856-35A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.93998145T>C | CA2832528845 | ABCA4 | c.6480-35A>G (n.6480-35A>G) c.2856-35A>G (n.2856-35A>G) | |
| 1 | g.93998145T= | CA1181395431 | ABCA4 | c.6480-35A= (n.6480-35A=) c.2856-35A= (n.2856-35A=) | |
| 1 | g.93998146T>C | CA26829148 | ABCA4 | c.6480-36A>G (n.6480-36A>G) c.2856-36A>G (n.2856-36A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.93998146T= | CA1181395433 | ABCA4 | c.6480-36A= (n.6480-36A=) c.2856-36A= (n.2856-36A=) | |
| 1 | g.93998147A= | CA1181395435 | ABCA4 | c.6480-37T= (n.6480-37T=) c.2856-37T= (n.2856-37T=) | |
| 1 | g.93998147A>G | CA524382098 | ABCA4 | c.6480-37T>C (n.6480-37T>C) c.2856-37T>C (n.2856-37T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.93998149T>C | CA2646644824 | ABCA4 | c.6480-39A>G (n.6480-39A>G) c.2856-39A>G (n.2856-39A>G) | gnomAD v4 |
| 1 | g.93998150G>T | CA2646644825 | ABCA4 | c.6480-40C>A (n.6480-40C>A) c.2856-40C>A (n.2856-40C>A) | gnomAD v4 |
| 1 | g.93998150_93998151insTTTTAT | CA2646644826 | ABCA4 | c.6480-41_6480-40insATAAAA (n.6480-41_6480-40insATAAAA) c.2856-41_2856-40insATAAAA (n.2856-41_2856-40insATAAAA) | gnomAD v4 |
| 1 | g.93998152T>C | CA740501396 | ABCA4 | c.6480-42A>G (n.6480-42A>G) c.2856-42A>G (n.2856-42A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.93998152T= | CA1181395437 | ABCA4 | c.6480-42A= (n.6480-42A=) c.2856-42A= (n.2856-42A=) | |
| 1 | g.93998153_93998154insATTATATTTTACCGCAATAAAAAATGTGATTACATTTT | CA2646644827 | ABCA4 | c.6480-42_6480-41insAATGTAATCACATTTTTTATTGCGGTAAAATATAATAA (n.6480-42_6480-41insAATGTAATCACATTTTTTATTGCGGTAAAATATAATAA) c.2856-42_2856-41insAATGTAATCACATTTTTTATTGCGGTAAAATATAATAA (n.2856-42_2856-41insAATGTAATCACATTTTTTATTGCGGTAAAATATAATAA) | gnomAD v4 |
| 1 | g.93998154G>A | CA2744613808 | ABCA4 | c.6480-44C>T (n.6480-44C>T) c.2856-44C>T (n.2856-44C>T) | |
| 1 | g.93998154_93998156del | CA2744613807 | ABCA4 | c.6480-46_6480-44del (n.6480-46_6480-44del) c.2856-46_2856-44del (n.2856-46_2856-44del) | |
| 1 | g.93998155_93998160del | CA2744613809 | ABCA4 | c.6480-50_6480-45del (n.6480-50_6480-45del) c.2856-50_2856-45del (n.2856-50_2856-45del) | |
| 1 | g.93998156G>T | CA2744613810 | ABCA4 | c.6480-46C>A (n.6480-46C>A) c.2856-46C>A (n.2856-46C>A) | |
| 1 | g.93998157C>A | CA2574437813 | ABCA4 | c.6480-47G>T (n.6480-47G>T) c.2856-47G>T (n.2856-47G>T) | |
| 1 | g.93998157C>T | CA2574437815 | ABCA4 | c.6480-47G>A (n.6480-47G>A) c.2856-47G>A (n.2856-47G>A) | |
| 1 | g.93998159T>A | CA2744613812 | ABCA4 | c.6480-49A>T (n.6480-49A>T) c.2856-49A>T (n.2856-49A>T) | |
| 1 | g.93998164_93998179del | CA2744613811 | ABCA4 | c.6480-64_6480-49del (n.6480-64_6480-49del) c.2856-64_2856-49del (n.2856-64_2856-49del) | |
| 1 | g.93998160A>C | CA2744613813 | ABCA4 | c.6480-50T>G (n.6480-50T>G) c.2856-50T>G (n.2856-50T>G) | |
| 1 | g.93998161A>G | CA2646644828 | ABCA4 | c.6480-51T>C (n.6480-51T>C) c.2856-51T>C (n.2856-51T>C) | gnomAD v4 |
| 1 | g.93998162G>A | CA2840711700 | ABCA4 | c.6480-52C>T (n.6480-52C>T) c.2856-52C>T (n.2856-52C>T) | |
| 1 | g.93998162G>C | CA2646644829 | ABCA4 | c.6480-52C>G (n.6480-52C>G) c.2856-52C>G (n.2856-52C>G) | gnomAD v4 |
| 1 | g.93998162_93998163insACA | CA2744613814 | ABCA4 | c.6480-53_6480-52insTGT (n.6480-53_6480-52insTGT) c.2856-53_2856-52insTGT (n.2856-53_2856-52insTGT) | |
| 1 | g.93998163G>A | CA740501397 | ABCA4 | c.6480-53C>T (n.6480-53C>T) c.2856-53C>T (n.2856-53C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.93998163G= | CA1181395438 | ABCA4 | c.6480-53C= (n.6480-53C=) c.2856-53C= (n.2856-53C=) | |
| 1 | g.93998163G>T | CA2744613816 | ABCA4 | c.6480-53C>A (n.6480-53C>A) c.2856-53C>A (n.2856-53C>A) | |
| 1 | g.93998163_93998182del | CA2744613815 | ABCA4 | c.6480-72_6480-53del (n.6480-72_6480-53del) c.2856-72_2856-53del (n.2856-72_2856-53del) | |
| 1 | g.93998164del | CA2744613817 | ABCA4 | c.6480-54del (n.6480-54del) c.2856-54del (n.2856-54del) | |
| 1 | g.93998164dup | CA2574437821 | ABCA4 | c.6480-54dup (n.6480-54dup) c.2856-54dup (n.2856-54dup) | gnomAD v4 |
| 1 | g.93998165A>C | CA2646644830 | ABCA4 | c.6480-55T>G (n.6480-55T>G) c.2856-55T>G (n.2856-55T>G) | gnomAD v4 |
| 1 | g.93998166A= | CA1181395441 | ABCA4 | c.6480-56T= (n.6480-56T=) c.2856-56T= (n.2856-56T=) | |
| 1 | g.93998166A>C | CA2744613818 | ABCA4 | c.6480-56T>G (n.6480-56T>G) c.2856-56T>G (n.2856-56T>G) | |
| 1 | g.93998166A>G | CA1181395440 | ABCA4 | c.6480-56T>C (n.6480-56T>C) c.2856-56T>C (n.2856-56T>C) | dbSNP |
| 1 | g.93998167T>C | CA2574437823 | ABCA4 | c.6480-57A>G (n.6480-57A>G) c.2856-57A>G (n.2856-57A>G) | gnomAD v4 |
| 1 | g.93998167_93998168insACG | CA2744613819 | ABCA4 | c.6480-58_6480-57insCGT (n.6480-58_6480-57insCGT) c.2856-58_2856-57insCGT (n.2856-58_2856-57insCGT) | |
| 1 | g.93998168C= | CA1181395442 | ABCA4 | c.6480-58G= (n.6480-58G=) c.2856-58G= (n.2856-58G=) | |
| 1 | g.93998168C>T | CA26829153 | ABCA4 | c.6480-58G>A (n.6480-58G>A) c.2856-58G>A (n.2856-58G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998169C>A | CA26829154 | ABCA4 | c.6480-59G>T (n.6480-59G>T) c.2856-59G>T (n.2856-59G>T) | dbSNP gnomAD v4 |
| 1 | g.93998169C= | CA1181395444 | ABCA4 | c.6480-59G= (n.6480-59G=) c.2856-59G= (n.2856-59G=) | |
| 1 | g.93998169_93998170insA | CA2744613820 | ABCA4 | c.6480-60_6480-59insT (n.6480-60_6480-59insT) c.2856-60_2856-59insT (n.2856-60_2856-59insT) | |
| 1 | g.93998170C>T | CA2744613822 | ABCA4 | c.6480-60G>A (n.6480-60G>A) c.2856-60G>A (n.2856-60G>A) | |
| 1 | g.93998170_93998182del | CA2744613821 | ABCA4 | c.6480-72_6480-60del (n.6480-72_6480-60del) c.2856-72_2856-60del (n.2856-72_2856-60del) | |
| 1 | g.93998171A= | CA1146790829 | ABCA4 | c.6480-61T= (n.6480-61T=) c.2856-61T= (n.2856-61T=) | |
| 1 | g.93998171A>C | CA1181395446 | ABCA4 | c.6480-61T>G (n.6480-61T>G) c.2856-61T>G (n.2856-61T>G) | dbSNP |
| 1 | g.93998171A>G | CA26829159 | ABCA4 | c.6480-61T>C (n.6480-61T>C) c.2856-61T>C (n.2856-61T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.93998176A= | CA1181395449 | ABCA4 | c.6480-66T= (n.6480-66T=) c.2856-66T= (n.2856-66T=) | |
| 1 | g.93998176_93998179delinsAAGG | CA1181395450 | ABCA4 | c.6480-69_6480-66delinsCCTT (n.6480-69_6480-66delinsCCTT) c.2856-69_2856-66delinsCCTT (n.2856-69_2856-66delinsCCTT) | |
| 1 | g.93998177A>C | CA2574437829 | ABCA4 | c.6480-67T>G (n.6480-67T>G) c.2856-67T>G (n.2856-67T>G) | |
| 1 | g.93998177A>G | CA2601991722 | ABCA4 | c.6480-67T>C (n.6480-67T>C) c.2856-67T>C (n.2856-67T>C) | gnomAD v3 gnomAD v4 |
| 1 | g.93998177_93998178dup | CA740501401 | ABCA4 | c.6480-68_6480-67dup (n.6480-68_6480-67dup) c.2856-68_2856-67dup (n.2856-68_2856-67dup) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.93998179_93998181del | CA1004570142 | ABCA4 | c.6480-69_6480-67del (n.6480-69_6480-67del) c.2856-69_2856-67del (n.2856-69_2856-67del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.93998179_93998184del | CA2744613823 | ABCA4 | c.6480-72_6480-67del (n.6480-72_6480-67del) c.2856-72_2856-67del (n.2856-72_2856-67del) | |
| 1 | g.93998178_93998179insACA | CA2744613824 | ABCA4 | c.6480-69_6480-68insTGT (n.6480-69_6480-68insTGT) c.2856-69_2856-68insTGT (n.2856-69_2856-68insTGT) | |
| 1 | g.93998179G>A | CA26829164 | ABCA4 | c.6480-69C>T (n.6480-69C>T) c.2856-69C>T (n.2856-69C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.93998179G= | CA1147688981 | ABCA4 | c.6480-69C= (n.6480-69C=) c.2856-69C= (n.2856-69C=) | |
| 1 | g.93998179G>T | CA2646644831 | ABCA4 | c.6480-69C>A (n.6480-69C>A) c.2856-69C>A (n.2856-69C>A) | gnomAD v4 |
| 1 | g.93998179_93998182del | CA2744613825 | ABCA4 | c.6480-72_6480-69del (n.6480-72_6480-69del) c.2856-72_2856-69del (n.2856-72_2856-69del) | |
| 1 | g.93998180A>G | CA2646644832 | ABCA4 | c.6480-70T>C (n.6480-70T>C) c.2856-70T>C (n.2856-70T>C) | gnomAD v4 |
| 1 | g.93998182_93998184del | CA2744613826 | ABCA4 | c.6480-72_6480-70del (n.6480-72_6480-70del) c.2856-72_2856-70del (n.2856-72_2856-70del) | |
| 1 | g.93998181G>C | CA1181395458 | ABCA4 | c.6480-71C>G (n.6480-71C>G) c.2856-71C>G (n.2856-71C>G) | dbSNP gnomAD v4 |
| 1 | g.93998181G= | CA1181395457 | ABCA4 | c.6480-71C= (n.6480-71C=) c.2856-71C= (n.2856-71C=) | |
| 1 | g.93998181_93998182del | CA2744613827 | ABCA4 | c.6480-72_6480-71del (n.6480-72_6480-71del) c.2856-72_2856-71del (n.2856-72_2856-71del) | |
| 1 | g.93998181_93998182insACTT | CA2744613828 | ABCA4 | c.6480-72_6480-71insAAGT (n.6480-72_6480-71insAAGT) c.2856-72_2856-71insAAGT (n.2856-72_2856-71insAAGT) | |
| 1 | g.93998182T>C | CA1181395460 | ABCA4 | c.6480-72A>G (n.6480-72A>G) c.2856-72A>G (n.2856-72A>G) | dbSNP gnomAD v4 |
| 1 | g.93998182T= | CA1181395459 | ABCA4 | c.6480-72A= (n.6480-72A=) c.2856-72A= (n.2856-72A=) | |
| 1 | g.93998183_93998184insACAG | CA2744613829 | ABCA4 | c.6480-74_6480-73insCTGT (n.6480-74_6480-73insCTGT) c.2856-74_2856-73insCTGT (n.2856-74_2856-73insCTGT) | |
| 1 | g.93998184G>C | CA2646644833 | ABCA4 | c.6480-74C>G (n.6480-74C>G) c.2856-74C>G (n.2856-74C>G) | gnomAD v4 |
| 1 | g.93998184G>T | CA2646644834 | ABCA4 | c.6480-74C>A (n.6480-74C>A) c.2856-74C>A (n.2856-74C>A) | gnomAD v4 |
| 1 | g.93998185A>C | CA2646644835 | ABCA4 | c.6480-75T>G (n.6480-75T>G) c.2856-75T>G (n.2856-75T>G) | gnomAD v4 |
| 1 | g.93998186del | CA2744613830 | ABCA4 | c.6480-76del (n.6480-76del) c.2856-76del (n.2856-76del) | |
| 1 | g.93998186C= | CA1145448666 | ABCA4 | c.6480-76G= (n.6480-76G=) c.2856-76G= (n.2856-76G=) | |
| 1 | g.93998186C>G | CA2744613833 | ABCA4 | c.6480-76G>C (n.6480-76G>C) c.2856-76G>C (n.2856-76G>C) | |
| 1 | g.93998186C>T | CA26829169 | ABCA4 | c.6480-76G>A (n.6480-76G>A) c.2856-76G>A (n.2856-76G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998186_93998191del | CA2744613831 | ABCA4 | c.6480-81_6480-76del (n.6480-81_6480-76del) c.2856-81_2856-76del (n.2856-81_2856-76del) | |
| 1 | g.93998186_93998193del | CA2744613832 | ABCA4 | c.6480-83_6480-76del (n.6480-83_6480-76del) c.2856-83_2856-76del (n.2856-83_2856-76del) | |
| 1 | g.93998187T>A | CA2744613834 | ABCA4 | c.6480-77A>T (n.6480-77A>T) c.2856-77A>T (n.2856-77A>T) | |
| 1 | g.93998187T>G | CA524382099 | ABCA4 | c.6480-77A>C (n.6480-77A>C) c.2856-77A>C (n.2856-77A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998187T= | CA1181395462 | ABCA4 | c.6480-77A= (n.6480-77A=) c.2856-77A= (n.2856-77A=) | |
| 1 | g.93998187_93998188insAGA | CA2744613837 | ABCA4 | c.6480-78_6480-77insTCT (n.6480-78_6480-77insTCT) c.2856-78_2856-77insTCT (n.2856-78_2856-77insTCT) | |
| 1 | g.93998188C>G | CA2744613836 | ABCA4 | c.6480-78G>C (n.6480-78G>C) c.2856-78G>C (n.2856-78G>C) | |
| 1 | g.93998188C>T | CA2744613835 | ABCA4 | c.6480-78G>A (n.6480-78G>A) c.2856-78G>A (n.2856-78G>A) | |
| 1 | g.93998188_93998191del | CA2744613838 | ABCA4 | c.6480-81_6480-78del (n.6480-81_6480-78del) c.2856-81_2856-78del (n.2856-81_2856-78del) | |
| 1 | g.93998189A>C | CA2570122291 | ABCA4 | c.6480-79T>G (n.6480-79T>G) c.2856-79T>G (n.2856-79T>G) | gnomAD v4 |
| 1 | g.93998189_93998190insAGT | CA2744613839 | ABCA4 | c.6480-80_6480-79insACT (n.6480-80_6480-79insACT) c.2856-80_2856-79insACT (n.2856-80_2856-79insACT) | |
| 1 | g.93998190T>A | CA2744613840 | ABCA4 | c.6480-80A>T (n.6480-80A>T) c.2856-80A>T (n.2856-80A>T) | |
| 1 | g.93998190T>C | CA26829174 | ABCA4 | c.6480-80A>G (n.6480-80A>G) c.2856-80A>G (n.2856-80A>G) | dbSNP |
| 1 | g.93998190T= | CA1181395464 | ABCA4 | c.6480-80A= (n.6480-80A=) c.2856-80A= (n.2856-80A=) | |
| 1 | g.93998191C>T | CA2646644836 | ABCA4 | c.6480-81G>A (n.6480-81G>A) c.2856-81G>A (n.2856-81G>A) | gnomAD v4 |
| 1 | g.93998192dup | CA2744613841 | ABCA4 | c.6480-82dup (n.6480-82dup) c.2856-82dup (n.2856-82dup) |