Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.54624813C>A | CA370988904 | RP1 | c.931C>A (p.Pro311Thr) c.787+2525C>A (n.787+2525C>A) c.952C>A (p.Pro318Thr) | |
8 | g.54624813C>G | CA370988905 | RP1 | c.931C>G (p.Pro311Ala) c.787+2525C>G (n.787+2525C>G) c.952C>G (p.Pro318Ala) | |
8 | g.54624813C>T | CA370988906 | RP1 | c.931C>T (p.Pro311Ser) c.787+2525C>T (n.787+2525C>T) c.952C>T (p.Pro318Ser) | |
8 | g.54624814C>A | CA370988907 | RP1 | c.932C>A (p.Pro311Gln) c.787+2526C>A (n.787+2526C>A) c.953C>A (p.Pro318Gln) | |
8 | g.54624814C>G | CA370988908 | RP1 | c.932C>G (p.Pro311Arg) c.787+2526C>G (n.787+2526C>G) c.953C>G (p.Pro318Arg) | |
8 | g.54624814C>T | CA370988909 | RP1 | c.932C>T (p.Pro311Leu) c.787+2526C>T (n.787+2526C>T) c.953C>T (p.Pro318Leu) | |
8 | g.54624815A>C | CA461098059 | RP1 | c.933A>C (p.Pro311=) c.787+2527A>C (n.787+2527A>C) c.954A>C (p.Pro318=) | |
8 | g.54624815A>G | CA461098060 | RP1 | c.933A>G (p.Pro311=) c.787+2527A>G (n.787+2527A>G) c.954A>G (p.Pro318=) | |
8 | g.54624815A>T | CA461098061 | RP1 | c.933A>T (p.Pro311=) c.787+2527A>T (n.787+2527A>T) c.954A>T (p.Pro318=) | |
8 | g.54624816A= | CA1785187625 | RP1 | c.934A= (p.Ile312=) c.787+2528A= (n.787+2528A=) c.955A= (p.Ile319=) | |
8 | g.54624816A>C | CA370988910 | RP1 | c.934A>C (p.Ile312Leu) c.787+2528A>C (n.787+2528A>C) c.955A>C (p.Ile319Leu) | |
8 | g.54624816A>G | CA370988911 | RP1 | c.934A>G (p.Ile312Val) c.787+2528A>G (n.787+2528A>G) c.955A>G (p.Ile319Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.54624816A>T | CA370988912 | RP1 | c.934A>T (p.Ile312Leu) c.787+2528A>T (n.787+2528A>T) c.955A>T (p.Ile319Leu) | |
8 | g.54624817T>A | CA370988913 | RP1 | c.935T>A (p.Ile312Lys) c.787+2529T>A (n.787+2529T>A) c.956T>A (p.Ile319Lys) | |
8 | g.54624817T>C | CA370988914 | RP1 | c.935T>C (p.Ile312Thr) c.787+2529T>C (n.787+2529T>C) c.956T>C (p.Ile319Thr) | |
8 | g.54624817T>G | CA370988915 | RP1 | c.935T>G (p.Ile312Arg) c.787+2529T>G (n.787+2529T>G) c.956T>G (p.Ile319Arg) | |
8 | g.54624818A= | CA1785187626 | RP1 | c.936A= (p.Ile312=) c.787+2530A= (n.787+2530A=) c.957A= (p.Ile319=) | |
8 | g.54624818A>C | CA461098067 | RP1 | c.936A>C (p.Ile312=) c.787+2530A>C (n.787+2530A>C) c.957A>C (p.Ile319=) | gnomAD v4 |
8 | g.54624818A>G | CA4751297 | RP1 | c.936A>G (p.Ile312Met) c.787+2530A>G (n.787+2530A>G) c.957A>G (p.Ile319Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54624818A>T | CA461098066 | RP1 | c.936A>T (p.Ile312=) c.787+2530A>T (n.787+2530A>T) c.957A>T (p.Ile319=) | |
8 | g.54624819T>A | CA370988918 | RP1 | c.937T>A (p.Tyr313Asn) c.787+2531T>A (n.787+2531T>A) c.958T>A (p.Tyr320Asn) | |
8 | g.54624819T>C | CA370988916 | RP1 | c.937T>C (p.Tyr313His) c.787+2531T>C (n.787+2531T>C) c.958T>C (p.Tyr320His) | gnomAD v4 |
8 | g.54624819T>G | CA370988917 | RP1 | c.937T>G (p.Tyr313Asp) c.787+2531T>G (n.787+2531T>G) c.958T>G (p.Tyr320Asp) | |
8 | g.54624820A= | CA1785187627 | RP1 | c.938A= (p.Tyr313=) c.787+2532A= (n.787+2532A=) c.959A= (p.Tyr320=) | |
8 | g.54624820A>C | CA370988919 | RP1 | c.938A>C (p.Tyr313Ser) c.787+2532A>C (n.787+2532A>C) c.959A>C (p.Tyr320Ser) | |
8 | g.54624820A>G | CA370988920 | RP1 | c.938A>G (p.Tyr313Cys) c.787+2532A>G (n.787+2532A>G) c.959A>G (p.Tyr320Cys) | dbSNP gnomAD v4 |
8 | g.54624820A>T | CA370988921 | RP1 | c.938A>T (p.Tyr313Phe) c.787+2532A>T (n.787+2532A>T) c.959A>T (p.Tyr320Phe) | |
8 | g.54624821T>A | CA370988922 | RP1 | c.939T>A (p.Tyr313Ter) c.787+2533T>A (n.787+2533T>A) c.960T>A (p.Tyr320Ter) | |
8 | g.54624821T>C | CA461098072 | RP1 | c.939T>C (p.Tyr313=) c.787+2533T>C (n.787+2533T>C) c.960T>C (p.Tyr320=) | |
8 | g.54624821T>G | CA370988923 | RP1 | c.939T>G (p.Tyr313Ter) c.787+2533T>G (n.787+2533T>G) c.960T>G (p.Tyr320Ter) | |
8 | g.54624822C>A | CA370988926 | RP1 | c.940C>A (p.Pro314Thr) c.787+2534C>A (n.787+2534C>A) c.961C>A (p.Pro321Thr) | |
8 | g.54624822C= | CA1785187628 | RP1 | c.940C= (p.Pro314=) c.787+2534C= (n.787+2534C=) c.961C= (p.Pro321=) | |
8 | g.54624822C>G | CA370988925 | RP1 | c.940C>G (p.Pro314Ala) c.787+2534C>G (n.787+2534C>G) c.961C>G (p.Pro321Ala) | |
8 | g.54624822C>T | CA370988924 | RP1 | c.940C>T (p.Pro314Ser) c.787+2534C>T (n.787+2534C>T) c.961C>T (p.Pro321Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.54624823C>A | CA370988927 | RP1 | c.941C>A (p.Pro314His) c.787+2535C>A (n.787+2535C>A) c.962C>A (p.Pro321His) | |
8 | g.54624823C= | CA1785187629 | RP1 | c.941C= (p.Pro314=) c.787+2535C= (n.787+2535C=) c.962C= (p.Pro321=) | |
8 | g.54624823C>G | CA370988928 | RP1 | c.941C>G (p.Pro314Arg) c.787+2535C>G (n.787+2535C>G) c.962C>G (p.Pro321Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.54624823C>T | CA370988929 | RP1 | c.941C>T (p.Pro314Leu) c.787+2535C>T (n.787+2535C>T) c.962C>T (p.Pro321Leu) | COSMIC |
8 | g.54624824T>A | CA461098078 | RP1 | c.942T>A (p.Pro314=) c.787+2536T>A (n.787+2536T>A) c.963T>A (p.Pro321=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.54624824T>C | CA461098076 | RP1 | c.942T>C (p.Pro314=) c.787+2536T>C (n.787+2536T>C) c.963T>C (p.Pro321=) | |
8 | g.54624824T>G | CA461098077 | RP1 | c.942T>G (p.Pro314=) c.787+2536T>G (n.787+2536T>G) c.963T>G (p.Pro321=) | |
8 | g.54624824T= | CA1785187630 | RP1 | c.942T= (p.Pro314=) c.787+2536T= (n.787+2536T=) c.963T= (p.Pro321=) | |
8 | g.54624825T>A | CA370988930 | RP1 | c.943T>A (p.Ser315Thr) c.787+2537T>A (n.787+2537T>A) c.964T>A (p.Ser322Thr) | |
8 | g.54624825T>C | CA370988931 | RP1 | c.943T>C (p.Ser315Pro) c.787+2537T>C (n.787+2537T>C) c.964T>C (p.Ser322Pro) | |
8 | g.54624825T>G | CA370988932 | RP1 | c.943T>G (p.Ser315Ala) c.787+2537T>G (n.787+2537T>G) c.964T>G (p.Ser322Ala) | |
8 | g.54624826C>A | CA370988933 | RP1 | c.944C>A (p.Ser315Tyr) c.787+2538C>A (n.787+2538C>A) c.965C>A (p.Ser322Tyr) | |
8 | g.54624826C>G | CA370988935 | RP1 | c.944C>G (p.Ser315Cys) c.787+2538C>G (n.787+2538C>G) c.965C>G (p.Ser322Cys) | |
8 | g.54624826C>T | CA370988934 | RP1 | c.944C>T (p.Ser315Phe) c.787+2538C>T (n.787+2538C>T) c.965C>T (p.Ser322Phe) | |
8 | g.54624827T>A | CA461098085 | RP1 | c.945T>A (p.Ser315=) c.787+2539T>A (n.787+2539T>A) c.966T>A (p.Ser322=) | |
8 | g.54624827T>C | CA461098087 | RP1 | c.945T>C (p.Ser315=) c.787+2539T>C (n.787+2539T>C) c.966T>C (p.Ser322=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54624827T>G | CA461098088 | RP1 | c.945T>G (p.Ser315=) c.787+2539T>G (n.787+2539T>G) c.966T>G (p.Ser322=) | |
8 | g.54624827T= | CA1785187631 | RP1 | c.945T= (p.Ser315=) c.787+2539T= (n.787+2539T=) c.966T= (p.Ser322=) | |
8 | g.54624828G>A | CA370988936 | RP1 | c.946G>A (p.Glu316Lys) c.787+2540G>A (n.787+2540G>A) c.967G>A (p.Glu323Lys) | COSMIC |
8 | g.54624828G>C | CA370988937 | RP1 | c.946G>C (p.Glu316Gln) c.787+2540G>C (n.787+2540G>C) c.967G>C (p.Glu323Gln) | |
8 | g.54624828G= | CA1785187632 | RP1 | c.946G= (p.Glu316=) c.787+2540G= (n.787+2540G=) c.967G= (p.Glu323=) | |
8 | g.54624828G>T | CA370988938 | RP1 | c.946G>T (p.Glu316Ter) c.787+2540G>T (n.787+2540G>T) c.967G>T (p.Glu323Ter) | dbSNP gnomAD v2 |
8 | g.54624829A= | CA1785187633 | RP1 | c.947A= (p.Glu316=) c.787+2541A= (n.787+2541A=) c.968A= (p.Glu323=) | |
8 | g.54624829A>C | CA370988939 | RP1 | c.947A>C (p.Glu316Ala) c.787+2541A>C (n.787+2541A>C) c.968A>C (p.Glu323Ala) | |
8 | g.54624829A>G | CA370988940 | RP1 | c.947A>G (p.Glu316Gly) c.787+2541A>G (n.787+2541A>G) c.968A>G (p.Glu323Gly) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54624829A>T | CA370988941 | RP1 | c.947A>T (p.Glu316Val) c.787+2541A>T (n.787+2541A>T) c.968A>T (p.Glu323Val) | |
8 | g.54624830A>C | CA370988942 | RP1 | c.948A>C (p.Glu316Asp) c.787+2542A>C (n.787+2542A>C) c.969A>C (p.Glu323Asp) | |
8 | g.54624830A>G | CA461098092 | RP1 | c.948A>G (p.Glu316=) c.787+2542A>G (n.787+2542A>G) c.969A>G (p.Glu323=) | |
8 | g.54624830A>T | CA370988943 | RP1 | c.948A>T (p.Glu316Asp) c.787+2542A>T (n.787+2542A>T) c.969A>T (p.Glu323Asp) | |
8 | g.54624831G>A | CA370988944 | RP1 | c.949G>A (p.Asp317Asn) c.787+2543G>A (n.787+2543G>A) c.970G>A (p.Asp324Asn) | |
8 | g.54624831G>C | CA370988945 | RP1 | c.949G>C (p.Asp317His) c.787+2543G>C (n.787+2543G>C) c.970G>C (p.Asp324His) | |
8 | g.54624831G>T | CA370988946 | RP1 | c.949G>T (p.Asp317Tyr) c.787+2543G>T (n.787+2543G>T) c.970G>T (p.Asp324Tyr) | |
8 | g.54624832A= | CA1785187634 | RP1 | c.950A= (p.Asp317=) c.787+2544A= (n.787+2544A=) c.971A= (p.Asp324=) | |
8 | g.54624832A>C | CA370988947 | RP1 | c.950A>C (p.Asp317Ala) c.787+2544A>C (n.787+2544A>C) c.971A>C (p.Asp324Ala) | |
8 | g.54624832A>G | CA370988948 | RP1 | c.950A>G (p.Asp317Gly) c.787+2544A>G (n.787+2544A>G) c.971A>G (p.Asp324Gly) | |
8 | g.54624832A>T | CA4751298 | RP1 | c.950A>T (p.Asp317Val) c.787+2544A>T (n.787+2544A>T) c.971A>T (p.Asp324Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54624833T>A | CA370988949 | RP1 | c.951T>A (p.Asp317Glu) c.787+2545T>A (n.787+2545T>A) c.972T>A (p.Asp324Glu) | ClinVar dbSNP |
8 | g.54624833T>C | CA461098094 | RP1 | c.951T>C (p.Asp317=) c.787+2545T>C (n.787+2545T>C) c.972T>C (p.Asp324=) | |
8 | g.54624833T>G | CA370988950 | RP1 | c.951T>G (p.Asp317Glu) c.787+2545T>G (n.787+2545T>G) c.972T>G (p.Asp324Glu) | |
8 | g.54624833T= | CA1785187635 | RP1 | c.951T= (p.Asp317=) c.787+2545T= (n.787+2545T=) c.972T= (p.Asp324=) | |
8 | g.54624834G>A | CA370988951 | RP1 | c.952G>A (p.Asp318Asn) c.787+2546G>A (n.787+2546G>A) c.973G>A (p.Asp325Asn) | COSMIC |
8 | g.54624834G>C | CA370988952 | RP1 | c.952G>C (p.Asp318His) c.787+2546G>C (n.787+2546G>C) c.973G>C (p.Asp325His) | |
8 | g.54624834G>T | CA370988953 | RP1 | c.952G>T (p.Asp318Tyr) c.787+2546G>T (n.787+2546G>T) c.973G>T (p.Asp325Tyr) | |
8 | g.54624835A>C | CA370988954 | RP1 | c.953A>C (p.Asp318Ala) c.787+2547A>C (n.787+2547A>C) c.974A>C (p.Asp325Ala) | |
8 | g.54624835A>G | CA370988955 | RP1 | c.953A>G (p.Asp318Gly) c.787+2547A>G (n.787+2547A>G) c.974A>G (p.Asp325Gly) | COSMIC |
8 | g.54624835A>T | CA370988956 | RP1 | c.953A>T (p.Asp318Val) c.787+2547A>T (n.787+2547A>T) c.974A>T (p.Asp325Val) | |
8 | g.54624836T>A | CA370988957 | RP1 | c.954T>A (p.Asp318Glu) c.787+2548T>A (n.787+2548T>A) c.975T>A (p.Asp325Glu) | |
8 | g.54624836T>C | CA461098098 | RP1 | c.954T>C (p.Asp318=) c.787+2548T>C (n.787+2548T>C) c.975T>C (p.Asp325=) | dbSNP |
8 | g.54624836T>G | CA370988958 | RP1 | c.954T>G (p.Asp318Glu) c.787+2548T>G (n.787+2548T>G) c.975T>G (p.Asp325Glu) | |
8 | g.54624836T= | CA1785187636 | RP1 | c.954T= (p.Asp318=) c.787+2548T= (n.787+2548T=) c.975T= (p.Asp325=) | |
8 | g.54624837A>C | CA370988959 | RP1 | c.955A>C (p.Ile319Leu) c.787+2549A>C (n.787+2549A>C) c.976A>C (p.Ile326Leu) | |
8 | g.54624837A>G | CA370988960 | RP1 | c.955A>G (p.Ile319Val) c.787+2549A>G (n.787+2549A>G) c.976A>G (p.Ile326Val) | COSMIC |
8 | g.54624837A>T | CA370988961 | RP1 | c.955A>T (p.Ile319Phe) c.787+2549A>T (n.787+2549A>T) c.976A>T (p.Ile326Phe) | gnomAD v4 |
8 | g.54624838T>A | CA370988963 | RP1 | c.956T>A (p.Ile319Asn) c.787+2550T>A (n.787+2550T>A) c.977T>A (p.Ile326Asn) | |
8 | g.54624838T>C | CA4751299 | RP1 | c.956T>C (p.Ile319Thr) c.787+2550T>C (n.787+2550T>C) c.977T>C (p.Ile326Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54624838T>G | CA370988962 | RP1 | c.956T>G (p.Ile319Ser) c.787+2550T>G (n.787+2550T>G) c.977T>G (p.Ile326Ser) | |
8 | g.54624838T= | CA1785187637 | RP1 | c.956T= (p.Ile319=) c.787+2550T= (n.787+2550T=) c.977T= (p.Ile326=) | |
8 | g.54624839T>A | CA461098102 | RP1 | c.957T>A (p.Ile319=) c.787+2551T>A (n.787+2551T>A) c.978T>A (p.Ile326=) | |
8 | g.54624839T>C | CA461098103 | RP1 | c.957T>C (p.Ile319=) c.787+2551T>C (n.787+2551T>C) c.978T>C (p.Ile326=) | |
8 | g.54624839T>G | CA370988964 | RP1 | c.957T>G (p.Ile319Met) c.787+2551T>G (n.787+2551T>G) c.978T>G (p.Ile326Met) | |
8 | g.54624840G>A | CA370988965 | RP1 | c.958G>A (p.Glu320Lys) c.787+2552G>A (n.787+2552G>A) c.979G>A (p.Glu327Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.54624840G>C | CA370988966 | RP1 | c.958G>C (p.Glu320Gln) c.787+2552G>C (n.787+2552G>C) c.979G>C (p.Glu327Gln) | |
8 | g.54624840G= | CA1785187638 | RP1 | c.958G= (p.Glu320=) c.787+2552G= (n.787+2552G=) c.979G= (p.Glu327=) | |
8 | g.54624840G>T | CA370988967 | RP1 | c.958G>T (p.Glu320Ter) c.787+2552G>T (n.787+2552G>T) c.979G>T (p.Glu327Ter) | |
8 | g.54624841A>C | CA370988968 | RP1 | c.959A>C (p.Glu320Ala) c.787+2553A>C (n.787+2553A>C) c.980A>C (p.Glu327Ala) | |
8 | g.54624841A>G | CA370988969 | RP1 | c.959A>G (p.Glu320Gly) c.787+2553A>G (n.787+2553A>G) c.980A>G (p.Glu327Gly) | gnomAD v4 |
8 | g.54624841A>T | CA370988970 | RP1 | c.959A>T (p.Glu320Val) c.787+2553A>T (n.787+2553A>T) c.980A>T (p.Glu327Val) | |
8 | g.54624842G>A | CA461098107 | RP1 | c.960G>A (p.Glu320=) c.787+2554G>A (n.787+2554G>A) c.981G>A (p.Glu327=) | |
8 | g.54624842G>C | CA370988971 | RP1 | c.960G>C (p.Glu320Asp) c.787+2554G>C (n.787+2554G>C) c.981G>C (p.Glu327Asp) | |
8 | g.54624842G>T | CA370988972 | RP1 | c.960G>T (p.Glu320Asp) c.787+2554G>T (n.787+2554G>T) c.981G>T (p.Glu327Asp) | |
8 | g.54624843A>C | CA370988973 | RP1 | c.961A>C (p.Lys321Gln) c.787+2555A>C (n.787+2555A>C) c.982A>C (p.Lys328Gln) | |
8 | g.54624843A>G | CA370988974 | RP1 | c.961A>G (p.Lys321Glu) c.787+2555A>G (n.787+2555A>G) c.982A>G (p.Lys328Glu) | COSMIC |
8 | g.54624843A>T | CA370988975 | RP1 | c.961A>T (p.Lys321Ter) c.787+2555A>T (n.787+2555A>T) c.982A>T (p.Lys328Ter) | |
8 | g.54624843_54624845del | CA2499219342 | RP1 | c.961_963del (p.Lys321del) c.787+2555_787+2557del (n.787+2555_787+2557del) c.982_984del (p.Lys328del) | ClinVar dbSNP |
8 | g.54624844A= | CA1785187639 | RP1 | c.962A= (p.Lys321=) c.787+2556A= (n.787+2556A=) c.983A= (p.Lys328=) | |
8 | g.54624844A>C | CA370988978 | RP1 | c.962A>C (p.Lys321Thr) c.787+2556A>C (n.787+2556A>C) c.983A>C (p.Lys328Thr) | |
8 | g.54624844A>G | CA370988977 | RP1 | c.962A>G (p.Lys321Arg) c.787+2556A>G (n.787+2556A>G) c.983A>G (p.Lys328Arg) | |
8 | g.54624844A>T | CA370988976 | RP1 | c.962A>T (p.Lys321Ile) c.787+2556A>T (n.787+2556A>T) c.983A>T (p.Lys328Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54624845A>C | CA370988979 | RP1 | c.963A>C (p.Lys321Asn) c.787+2557A>C (n.787+2557A>C) c.984A>C (p.Lys328Asn) | |
8 | g.54624845A>G | CA461098111 | RP1 | c.963A>G (p.Lys321=) c.787+2557A>G (n.787+2557A>G) c.984A>G (p.Lys328=) | |
8 | g.54624845A>T | CA370988980 | RP1 | c.963A>T (p.Lys321Asn) c.787+2557A>T (n.787+2557A>T) c.984A>T (p.Lys328Asn) | |
8 | g.54624846T>A | CA370988981 | RP1 | c.964T>A (p.Ser322Thr) c.787+2558T>A (n.787+2558T>A) c.985T>A (p.Ser329Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54624846T>C | CA370988982 | RP1 | c.964T>C (p.Ser322Pro) c.787+2558T>C (n.787+2558T>C) c.985T>C (p.Ser329Pro) | |
8 | g.54624846T>G | CA370988983 | RP1 | c.964T>G (p.Ser322Ala) c.787+2558T>G (n.787+2558T>G) c.985T>G (p.Ser329Ala) | |
8 | g.54624846T= | CA1785187640 | RP1 | c.964T= (p.Ser322=) c.787+2558T= (n.787+2558T=) c.985T= (p.Ser329=) | |
8 | g.54624847C>A | CA4751300 | RP1 | c.965C>A (p.Ser322Ter) c.787+2559C>A (n.787+2559C>A) c.986C>A (p.Ser329Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54624847C= | CA1785187641 | RP1 | c.965C= (p.Ser322=) c.787+2559C= (n.787+2559C=) c.986C= (p.Ser329=) | |
8 | g.54624847C>G | CA370988984 | RP1 | c.965C>G (p.Ser322Ter) c.787+2559C>G (n.787+2559C>G) c.986C>G (p.Ser329Ter) | |
8 | g.54624847C>T | CA177236584 | RP1 | c.965C>T (p.Ser322Leu) c.787+2559C>T (n.787+2559C>T) c.986C>T (p.Ser329Leu) | dbSNP |
8 | g.54624848A>C | CA461098113 | RP1 | c.966A>C (p.Ser322=) c.787+2560A>C (n.787+2560A>C) c.987A>C (p.Ser329=) | |
8 | g.54624848A>G | CA461098114 | RP1 | c.966A>G (p.Ser322=) c.787+2560A>G (n.787+2560A>G) c.987A>G (p.Ser329=) | |
8 | g.54624848A>T | CA461098115 | RP1 | c.966A>T (p.Ser322=) c.787+2560A>T (n.787+2560A>T) c.987A>T (p.Ser329=) | |
8 | g.54624848_54624850del | CA2687300913 | RP1 | c.966_968del (p.Ile323del) c.787+2560_787+2562del (n.787+2560_787+2562del) c.987_989del (p.Ile330del) | gnomAD v4 |
8 | g.54624849A= | CA1785187642 | RP1 | c.967A= (p.Ile323=) c.787+2561A= (n.787+2561A=) c.988A= (p.Ile330=) | |
8 | g.54624849A>C | CA370988985 | RP1 | c.967A>C (p.Ile323Leu) c.787+2561A>C (n.787+2561A>C) c.988A>C (p.Ile330Leu) | |
8 | g.54624849A>G | CA370988986 | RP1 | c.967A>G (p.Ile323Val) c.787+2561A>G (n.787+2561A>G) c.988A>G (p.Ile330Val) | dbSNP |
8 | g.54624849A>T | CA370988987 | RP1 | c.967A>T (p.Ile323Phe) c.787+2561A>T (n.787+2561A>T) c.988A>T (p.Ile330Phe) | |
8 | g.54624850T>A | CA370988988 | RP1 | c.968T>A (p.Ile323Asn) c.787+2562T>A (n.787+2562T>A) c.989T>A (p.Ile330Asn) | |
8 | g.54624850T>C | CA370988989 | RP1 | c.968T>C (p.Ile323Thr) c.787+2562T>C (n.787+2562T>C) c.989T>C (p.Ile330Thr) | ClinVar |
8 | g.54624850T>G | CA370988990 | RP1 | c.968T>G (p.Ile323Ser) c.787+2562T>G (n.787+2562T>G) c.989T>G (p.Ile330Ser) | |
8 | g.54624851T>A | CA461098120 | RP1 | c.969T>A (p.Ile323=) c.787+2563T>A (n.787+2563T>A) c.990T>A (p.Ile330=) | dbSNP |
8 | g.54624851T>C | CA461098121 | RP1 | c.969T>C (p.Ile323=) c.787+2563T>C (n.787+2563T>C) c.990T>C (p.Ile330=) | |
8 | g.54624851T>G | CA370988991 | RP1 | c.969T>G (p.Ile323Met) c.787+2563T>G (n.787+2563T>G) c.990T>G (p.Ile330Met) | |
8 | g.54624852A>C | CA370988992 | RP1 | c.970A>C (p.Ile324Leu) c.787+2564A>C (n.787+2564A>C) c.991A>C (p.Ile331Leu) | |
8 | g.54624852A>G | CA370988993 | RP1 | c.970A>G (p.Ile324Val) c.787+2564A>G (n.787+2564A>G) c.991A>G (p.Ile331Val) | ClinVar gnomAD v4 |
8 | g.54624852A>T | CA370988994 | RP1 | c.970A>T (p.Ile324Phe) c.787+2564A>T (n.787+2564A>T) c.991A>T (p.Ile331Phe) | |
8 | g.54624853T>A | CA370988995 | RP1 | c.971T>A (p.Ile324Asn) c.787+2565T>A (n.787+2565T>A) c.992T>A (p.Ile331Asn) | |
8 | g.54624853T>C | CA370988996 | RP1 | c.971T>C (p.Ile324Thr) c.787+2565T>C (n.787+2565T>C) c.992T>C (p.Ile331Thr) | |
8 | g.54624853T>G | CA370988997 | RP1 | c.971T>G (p.Ile324Ser) c.787+2565T>G (n.787+2565T>G) c.992T>G (p.Ile331Ser) | |
8 | g.54624854T>A | CA461098123 | RP1 | c.972T>A (p.Ile324=) c.787+2566T>A (n.787+2566T>A) c.993T>A (p.Ile331=) | |
8 | g.54624854T>C | CA461098125 | RP1 | c.972T>C (p.Ile324=) c.787+2566T>C (n.787+2566T>C) c.993T>C (p.Ile331=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.54624854T>G | CA370988998 | RP1 | c.972T>G (p.Ile324Met) c.787+2566T>G (n.787+2566T>G) c.993T>G (p.Ile331Met) | gnomAD v4 |
8 | g.54624854T= | CA1785187643 | RP1 | c.972T= (p.Ile324=) c.787+2566T= (n.787+2566T=) c.993T= (p.Ile331=) | |
8 | g.54624855T>A | CA370988999 | RP1 | c.973T>A (p.Phe325Ile) c.787+2567T>A (n.787+2567T>A) c.994T>A (p.Phe332Ile) | |
8 | g.54624855T>C | CA370989000 | RP1 | c.973T>C (p.Phe325Leu) c.787+2567T>C (n.787+2567T>C) c.994T>C (p.Phe332Leu) | |
8 | g.54624855T>G | CA370989001 | RP1 | c.973T>G (p.Phe325Val) c.787+2567T>G (n.787+2567T>G) c.994T>G (p.Phe332Val) | |
8 | g.54624856T>A | CA370989002 | RP1 | c.974T>A (p.Phe325Tyr) c.787+2568T>A (n.787+2568T>A) c.995T>A (p.Phe332Tyr) | |
8 | g.54624856T>C | CA370989003 | RP1 | c.974T>C (p.Phe325Ser) c.787+2568T>C (n.787+2568T>C) c.995T>C (p.Phe332Ser) | |
8 | g.54624856T>G | CA370989004 | RP1 | c.974T>G (p.Phe325Cys) c.787+2568T>G (n.787+2568T>G) c.995T>G (p.Phe332Cys) | |
8 | g.54624857T>A | CA370989006 | RP1 | c.975T>A (p.Phe325Leu) c.787+2569T>A (n.787+2569T>A) c.996T>A (p.Phe332Leu) | |
8 | g.54624857T>C | CA461098129 | RP1 | c.975T>C (p.Phe325=) c.787+2569T>C (n.787+2569T>C) c.996T>C (p.Phe332=) | |
8 | g.54624857T>G | CA370989005 | RP1 | c.975T>G (p.Phe325Leu) c.787+2569T>G (n.787+2569T>G) c.996T>G (p.Phe332Leu) | dbSNP gnomAD v2 |
8 | g.54624857T= | CA1785187644 | RP1 | c.975T= (p.Phe325=) c.787+2569T= (n.787+2569T=) c.996T= (p.Phe332=) | |
8 | g.54624858A>C | CA370989007 | RP1 | c.976A>C (p.Asn326His) c.787+2570A>C (n.787+2570A>C) c.997A>C (p.Asn333His) | |
8 | g.54624858A>G | CA370989009 | RP1 | c.976A>G (p.Asn326Asp) c.787+2570A>G (n.787+2570A>G) c.997A>G (p.Asn333Asp) | |
8 | g.54624858A>T | CA370989008 | RP1 | c.976A>T (p.Asn326Tyr) c.787+2570A>T (n.787+2570A>T) c.997A>T (p.Asn333Tyr) | |
8 | g.54624859A>C | CA370989010 | RP1 | c.977A>C (p.Asn326Thr) c.787+2571A>C (n.787+2571A>C) c.998A>C (p.Asn333Thr) | |
8 | g.54624859A>G | CA370989012 | RP1 | c.977A>G (p.Asn326Ser) c.787+2571A>G (n.787+2571A>G) c.998A>G (p.Asn333Ser) | |
8 | g.54624859A>T | CA370989011 | RP1 | c.977A>T (p.Asn326Ile) c.787+2571A>T (n.787+2571A>T) c.998A>T (p.Asn333Ile) | |
8 | g.54624860T>A | CA370989013 | RP1 | c.978T>A (p.Asn326Lys) c.787+2572T>A (n.787+2572T>A) c.999T>A (p.Asn333Lys) | |
8 | g.54624860T>C | CA461098134 | RP1 | c.978T>C (p.Asn326=) c.787+2572T>C (n.787+2572T>C) c.999T>C (p.Asn333=) | |
8 | g.54624860T>G | CA370989014 | RP1 | c.978T>G (p.Asn326Lys) c.787+2572T>G (n.787+2572T>G) c.999T>G (p.Asn333Lys) | |
8 | g.54624861C>A | CA370989015 | RP1 | c.979C>A (p.Gln327Lys) c.787+2573C>A (n.787+2573C>A) c.1000C>A (p.Gln334Lys) | |
8 | g.54624861C>G | CA370989017 | RP1 | c.979C>G (p.Gln327Glu) c.787+2573C>G (n.787+2573C>G) c.1000C>G (p.Gln334Glu) | COSMIC |
8 | g.54624861C>T | CA370989016 | RP1 | c.979C>T (p.Gln327Ter) c.787+2573C>T (n.787+2573C>T) c.1000C>T (p.Gln334Ter) | |
8 | g.54624862A>C | CA370989018 | RP1 | c.980A>C (p.Gln327Pro) c.787+2574A>C (n.787+2574A>C) c.1001A>C (p.Gln334Pro) | |
8 | g.54624862A>G | CA370989020 | RP1 | c.980A>G (p.Gln327Arg) c.787+2574A>G (n.787+2574A>G) c.1001A>G (p.Gln334Arg) | |
8 | g.54624862A>T | CA370989019 | RP1 | c.980A>T (p.Gln327Leu) c.787+2574A>T (n.787+2574A>T) c.1001A>T (p.Gln334Leu) | |
8 | g.54624863A= | CA1785187645 | RP1 | c.981A= (p.Gln327=) c.787+2575A= (n.787+2575A=) c.1002A= (p.Gln334=) | |
8 | g.54624863A>C | CA370989021 | RP1 | c.981A>C (p.Gln327His) c.787+2575A>C (n.787+2575A>C) c.1002A>C (p.Gln334His) | |
8 | g.54624863A>G | CA461098137 | RP1 | c.981A>G (p.Gln327=) c.787+2575A>G (n.787+2575A>G) c.1002A>G (p.Gln334=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.54624863A>T | CA370989022 | RP1 | c.981A>T (p.Gln327His) c.787+2575A>T (n.787+2575A>T) c.1002A>T (p.Gln334His) | |
8 | g.54624864G>A | CA370989023 | RP1 | c.982G>A (p.Asp328Asn) c.787+2576G>A (n.787+2576G>A) c.1003G>A (p.Asp335Asn) | |
8 | g.54624864G>C | CA370989024 | RP1 | c.982G>C (p.Asp328His) c.787+2576G>C (n.787+2576G>C) c.1003G>C (p.Asp335His) | |
8 | g.54624864G>T | CA370989025 | RP1 | c.982G>T (p.Asp328Tyr) c.787+2576G>T (n.787+2576G>T) c.1003G>T (p.Asp335Tyr) | gnomAD v4 |
8 | g.54624865A= | CA1785187646 | RP1 | c.983A= (p.Asp328=) c.787+2577A= (n.787+2577A=) c.1004A= (p.Asp335=) | |
8 | g.54624865A>C | CA370989026 | RP1 | c.983A>C (p.Asp328Ala) c.787+2577A>C (n.787+2577A>C) c.1004A>C (p.Asp335Ala) | |
8 | g.54624865A>G | CA370989027 | RP1 | c.983A>G (p.Asp328Gly) c.787+2577A>G (n.787+2577A>G) c.1004A>G (p.Asp335Gly) | dbSNP gnomAD v4 |
8 | g.54624865A>T | CA370989028 | RP1 | c.983A>T (p.Asp328Val) c.787+2577A>T (n.787+2577A>T) c.1004A>T (p.Asp335Val) | dbSNP gnomAD v4 |
8 | g.54624866C>A | CA370989029 | RP1 | c.984C>A (p.Asp328Glu) c.787+2578C>A (n.787+2578C>A) c.1005C>A (p.Asp335Glu) | |
8 | g.54624866C= | CA1785187647 | RP1 | c.984C= (p.Asp328=) c.787+2578C= (n.787+2578C=) c.1005C= (p.Asp335=) | |
8 | g.54624866C>G | CA370989030 | RP1 | c.984C>G (p.Asp328Glu) c.787+2578C>G (n.787+2578C>G) c.1005C>G (p.Asp335Glu) | |
8 | g.54624866C>T | CA4751301 | RP1 | c.984C>T (p.Asp328=) c.787+2578C>T (n.787+2578C>T) c.1005C>T (p.Asp335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.54624867G>A | CA4751302 | RP1 | c.985G>A (p.Gly329Ser) c.787+2579G>A (n.787+2579G>A) c.1006G>A (p.Gly336Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54624867G>C | CA370989031 | RP1 | c.985G>C (p.Gly329Arg) c.787+2579G>C (n.787+2579G>C) c.1006G>C (p.Gly336Arg) | |
8 | g.54624867G= | CA1785187648 | RP1 | c.985G= (p.Gly329=) c.787+2579G= (n.787+2579G=) c.1006G= (p.Gly336=) | |
8 | g.54624867G>T | CA370989032 | RP1 | c.985G>T (p.Gly329Cys) c.787+2579G>T (n.787+2579G>T) c.1006G>T (p.Gly336Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.54624868G>A | CA370989033 | RP1 | c.986G>A (p.Gly329Asp) c.787+2580G>A (n.787+2580G>A) c.1007G>A (p.Gly336Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54624868G>C | CA370989035 | RP1 | c.986G>C (p.Gly329Ala) c.787+2580G>C (n.787+2580G>C) c.1007G>C (p.Gly336Ala) | |
8 | g.54624868G= | CA1785187649 | RP1 | c.986G= (p.Gly329=) c.787+2580G= (n.787+2580G=) c.1007G= (p.Gly336=) | |
8 | g.54624868G>T | CA370989034 | RP1 | c.986G>T (p.Gly329Val) c.787+2580G>T (n.787+2580G>T) c.1007G>T (p.Gly336Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.54624869C>A | CA461098148 | RP1 | c.987C>A (p.Gly329=) c.787+2581C>A (n.787+2581C>A) c.1008C>A (p.Gly336=) | |
8 | g.54624869C>G | CA461098149 | RP1 | c.987C>G (p.Gly329=) c.787+2581C>G (n.787+2581C>G) c.1008C>G (p.Gly336=) | gnomAD v4 |
8 | g.54624869C>T | CA461098150 | RP1 | c.987C>T (p.Gly329=) c.787+2581C>T (n.787+2581C>T) c.1008C>T (p.Gly336=) | |
8 | g.54624870A>C | CA370989036 | RP1 | c.988A>C (p.Thr330Pro) c.787+2582A>C (n.787+2582A>C) c.1009A>C (p.Thr337Pro) | |
8 | g.54624870A>G | CA370989037 | RP1 | c.988A>G (p.Thr330Ala) c.787+2582A>G (n.787+2582A>G) c.1009A>G (p.Thr337Ala) | gnomAD v4 |
8 | g.54624870A>T | CA370989038 | RP1 | c.988A>T (p.Thr330Ser) c.787+2582A>T (n.787+2582A>T) c.1009A>T (p.Thr337Ser) | |
8 | g.54624871C>A | CA370989039 | RP1 | c.989C>A (p.Thr330Asn) c.787+2583C>A (n.787+2583C>A) c.1010C>A (p.Thr337Asn) | |
8 | g.54624871C>G | CA370989040 | RP1 | c.989C>G (p.Thr330Ser) c.787+2583C>G (n.787+2583C>G) c.1010C>G (p.Thr337Ser) | |
8 | g.54624871C>T | CA370989041 | RP1 | c.989C>T (p.Thr330Ile) c.787+2583C>T (n.787+2583C>T) c.1010C>T (p.Thr337Ile) | |
8 | g.54624872T>A | CA461098154 | RP1 | c.990T>A (p.Thr330=) c.787+2584T>A (n.787+2584T>A) c.1011T>A (p.Thr337=) | |
8 | g.54624872T>C | CA461098152 | RP1 | c.990T>C (p.Thr330=) c.787+2584T>C (n.787+2584T>C) c.1011T>C (p.Thr337=) | dbSNP gnomAD v4 |
8 | g.54624872T>G | CA461098153 | RP1 | c.990T>G (p.Thr330=) c.787+2584T>G (n.787+2584T>G) c.1011T>G (p.Thr337=) | |
8 | g.54624872T= | CA1785187650 | RP1 | c.990T= (p.Thr330=) c.787+2584T= (n.787+2584T=) c.1011T= (p.Thr337=) | |
8 | g.54624873A= | CA1785187651 | RP1 | c.991A= (p.Met331=) c.787+2585A= (n.787+2585A=) c.1012A= (p.Met338=) | |
8 | g.54624873A>C | CA370989042 | RP1 | c.991A>C (p.Met331Leu) c.787+2585A>C (n.787+2585A>C) c.1012A>C (p.Met338Leu) | |
8 | g.54624873A>G | CA4751303 | RP1 | c.991A>G (p.Met331Val) c.787+2585A>G (n.787+2585A>G) c.1012A>G (p.Met338Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54624873A>T | CA370989043 | RP1 | c.991A>T (p.Met331Leu) c.787+2585A>T (n.787+2585A>T) c.1012A>T (p.Met338Leu) | |
8 | g.54624874T>A | CA370989045 | RP1 | c.992T>A (p.Met331Lys) c.787+2586T>A (n.787+2586T>A) c.1013T>A (p.Met338Lys) | gnomAD v4 |
8 | g.54624874T>C | CA370989046 | RP1 | c.992T>C (p.Met331Thr) c.787+2586T>C (n.787+2586T>C) c.1013T>C (p.Met338Thr) | |
8 | g.54624874T>G | CA370989044 | RP1 | c.992T>G (p.Met331Arg) c.787+2586T>G (n.787+2586T>G) c.1013T>G (p.Met338Arg) | |
8 | g.54624875G>A | CA370989047 | RP1 | c.993G>A (p.Met331Ile) c.787+2587G>A (n.787+2587G>A) c.1014G>A (p.Met338Ile) | |
8 | g.54624875G>C | CA370989048 | RP1 | c.993G>C (p.Met331Ile) c.787+2587G>C (n.787+2587G>C) c.1014G>C (p.Met338Ile) | |
8 | g.54624875G>T | CA370989049 | RP1 | c.993G>T (p.Met331Ile) c.787+2587G>T (n.787+2587G>T) c.1014G>T (p.Met338Ile) | gnomAD v4 |
8 | g.54624875_54624876delinsGA | CA1785187652 | RP1 | c.993_994delinsGA (p.Met331=) c.787+2587_787+2588delinsGA (n.787+2587_787+2588delinsGA) c.1014_1015delinsGA (p.Met338=) | |
8 | g.54624876del | CA461098162 | RP1 | c.994del (p.Thr332GlnfsTer4) c.787+2588del (n.787+2588del) c.1015del (p.Thr339GlnfsTer4) | dbSNP |
8 | g.54624876A>C | CA370989050 | RP1 | c.994A>C (p.Thr332Pro) c.787+2588A>C (n.787+2588A>C) c.1015A>C (p.Thr339Pro) | |
8 | g.54624876A>G | CA370989051 | RP1 | c.994A>G (p.Thr332Ala) c.787+2588A>G (n.787+2588A>G) c.1015A>G (p.Thr339Ala) | |
8 | g.54624876A>T | CA370989052 | RP1 | c.994A>T (p.Thr332Ser) c.787+2588A>T (n.787+2588A>T) c.1015A>T (p.Thr339Ser) | |
8 | g.54624877del | CA370989054 | RP1 | c.995del (p.Thr332LysfsTer4) c.787+2589del (n.787+2589del) c.1016del (p.Thr339LysfsTer4) | |
8 | g.54624877C>A | CA370989053 | RP1 | c.995C>A (p.Thr332Lys) c.787+2589C>A (n.787+2589C>A) c.1016C>A (p.Thr339Lys) | |
8 | g.54624877C>G | CA370989056 | RP1 | c.995C>G (p.Thr332Arg) c.787+2589C>G (n.787+2589C>G) c.1016C>G (p.Thr339Arg) | |
8 | g.54624877C>T | CA370989055 | RP1 | c.995C>T (p.Thr332Ile) c.787+2589C>T (n.787+2589C>T) c.1016C>T (p.Thr339Ile) | |
8 | g.54624878A>C | CA461098166 | RP1 | c.996A>C (p.Thr332=) c.787+2590A>C (n.787+2590A>C) c.1017A>C (p.Thr339=) | |
8 | g.54624878A>G | CA461098167 | RP1 | c.996A>G (p.Thr332=) c.787+2590A>G (n.787+2590A>G) c.1017A>G (p.Thr339=) | |
8 | g.54624878A>T | CA461098168 | RP1 | c.996A>T (p.Thr332=) c.787+2590A>T (n.787+2590A>T) c.1017A>T (p.Thr339=) | |
8 | g.54624879G>A | CA4751304 | RP1 | c.997G>A (p.Val333Ile) c.787+2591G>A (n.787+2591G>A) c.1018G>A (p.Val340Ile) | dbSNP ExAC gnomAD v2 |
8 | g.54624879G>C | CA177236590 | RP1 | c.997G>C (p.Val333Leu) c.787+2591G>C (n.787+2591G>C) c.1018G>C (p.Val340Leu) | dbSNP |
8 | g.54624879G= | CA1785187653 | RP1 | c.997G= (p.Val333=) c.787+2591G= (n.787+2591G=) c.1018G= (p.Val340=) | |
8 | g.54624879G>T | CA370989057 | RP1 | c.997G>T (p.Val333Phe) c.787+2591G>T (n.787+2591G>T) c.1018G>T (p.Val340Phe) | |
8 | g.54624880T>A | CA370989058 | RP1 | c.998T>A (p.Val333Asp) c.787+2592T>A (n.787+2592T>A) c.1019T>A (p.Val340Asp) | |
8 | g.54624880T>C | CA370989060 | RP1 | c.998T>C (p.Val333Ala) c.787+2592T>C (n.787+2592T>C) c.1019T>C (p.Val340Ala) | gnomAD v4 |
8 | g.54624880T>G | CA370989059 | RP1 | c.998T>G (p.Val333Gly) c.787+2592T>G (n.787+2592T>G) c.1019T>G (p.Val340Gly) | |
8 | g.54624880_54624885delinsTTGAGA | CA1785187654 | RP1 | c.998_1003delinsTTGAGA (p.Val333=) c.787+2592_787+2597delinsTTGAGA (n.787+2592_787+2597delinsTTGAGA) c.1019_1024delinsTTGAGA (p.Val340=) | |
8 | g.54624881T>A | CA461098171 | RP1 | c.999T>A (p.Val333=) c.787+2593T>A (n.787+2593T>A) c.1020T>A (p.Val340=) | |
8 | g.54624881T>C | CA461098172 | RP1 | c.999T>C (p.Val333=) c.787+2593T>C (n.787+2593T>C) c.1020T>C (p.Val340=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54624881T>G | CA461098173 | RP1 | c.999T>G (p.Val333=) c.787+2593T>G (n.787+2593T>G) c.1020T>G (p.Val340=) | |
8 | g.54624881T= | CA1785187655 | RP1 | c.999T= (p.Val333=) c.787+2593T= (n.787+2593T=) c.1020T= (p.Val340=) | |
8 | g.54624884_54624888del | CA582187726 | RP1 | c.1002_1006del (p.Met335SerfsTer19) c.787+2596_787+2600del (n.787+2596_787+2600del) c.1023_1027del (p.Met342SerfsTer19) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.54624882G>A | CA370989061 | RP1 | c.1000G>A (p.Glu334Lys) c.787+2594G>A (n.787+2594G>A) c.1021G>A (p.Glu341Lys) | |
8 | g.54624882G>C | CA370989062 | RP1 | c.1000G>C (p.Glu334Gln) c.787+2594G>C (n.787+2594G>C) c.1021G>C (p.Glu341Gln) | |
8 | g.54624882G>T | CA370989063 | RP1 | c.1000G>T (p.Glu334Ter) c.787+2594G>T (n.787+2594G>T) c.1021G>T (p.Glu341Ter) | |
8 | g.54624883A>C | CA370989064 | RP1 | c.1001A>C (p.Glu334Ala) c.787+2595A>C (n.787+2595A>C) c.1022A>C (p.Glu341Ala) | |
8 | g.54624883A>G | CA370989065 | RP1 | c.1001A>G (p.Glu334Gly) c.787+2595A>G (n.787+2595A>G) c.1022A>G (p.Glu341Gly) | |
8 | g.54624883A>T | CA370989066 | RP1 | c.1001A>T (p.Glu334Val) c.787+2595A>T (n.787+2595A>T) c.1022A>T (p.Glu341Val) | |
8 | g.54624883dup | CA2695209500 | RP1 | c.1001dup (p.Met335AspfsTer21) c.787+2595dup (n.787+2595dup) c.1022dup (p.Met342AspfsTer21) | ClinVar dbSNP |
8 | g.54624884G>A | CA461098177 | RP1 | c.1002G>A (p.Glu334=) c.787+2596G>A (n.787+2596G>A) c.1023G>A (p.Glu341=) | |
8 | g.54624884G>C | CA370989067 | RP1 | c.1002G>C (p.Glu334Asp) c.787+2596G>C (n.787+2596G>C) c.1023G>C (p.Glu341Asp) | |
8 | g.54624884G>T | CA370989068 | RP1 | c.1002G>T (p.Glu334Asp) c.787+2596G>T (n.787+2596G>T) c.1023G>T (p.Glu341Asp) | |
8 | g.54624885A>C | CA370989069 | RP1 | c.1003A>C (p.Met335Leu) c.787+2597A>C (n.787+2597A>C) c.1024A>C (p.Met342Leu) | |
8 | g.54624885A>G | CA370989070 | RP1 | c.1003A>G (p.Met335Val) c.787+2597A>G (n.787+2597A>G) c.1024A>G (p.Met342Val) | |
8 | g.54624885A>T | CA370989071 | RP1 | c.1003A>T (p.Met335Leu) c.787+2597A>T (n.787+2597A>T) c.1024A>T (p.Met342Leu) | COSMIC |
8 | g.54624886T>A | CA370989073 | RP1 | c.1004T>A (p.Met335Lys) c.787+2598T>A (n.787+2598T>A) c.1025T>A (p.Met342Lys) | |
8 | g.54624886T>C | CA4751305 | RP1 | c.1004T>C (p.Met335Thr) c.787+2598T>C (n.787+2598T>C) c.1025T>C (p.Met342Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54624886T>G | CA370989072 | RP1 | c.1004T>G (p.Met335Arg) c.787+2598T>G (n.787+2598T>G) c.1025T>G (p.Met342Arg) | |
8 | g.54624886T= | CA1785187656 | RP1 | c.1004T= (p.Met335=) c.787+2598T= (n.787+2598T=) c.1025T= (p.Met342=) | |
8 | g.54624887G>A | CA370989076 | RP1 | c.1005G>A (p.Met335Ile) c.787+2599G>A (n.787+2599G>A) c.1026G>A (p.Met342Ile) | COSMIC |
8 | g.54624887G>C | CA370989074 | RP1 | c.1005G>C (p.Met335Ile) c.787+2599G>C (n.787+2599G>C) c.1026G>C (p.Met342Ile) | COSMIC |
8 | g.54624887G= | CA1785187657 | RP1 | c.1005G= (p.Met335=) c.787+2599G= (n.787+2599G=) c.1026G= (p.Met342=) | |
8 | g.54624887G>T | CA370989075 | RP1 | c.1005G>T (p.Met335Ile) c.787+2599G>T (n.787+2599G>T) c.1026G>T (p.Met342Ile) | dbSNP gnomAD v4 |
8 | g.54624888A>C | CA370989077 | RP1 | c.1006A>C (p.Lys336Gln) c.787+2600A>C (n.787+2600A>C) c.1027A>C (p.Lys343Gln) | |
8 | g.54624888A>G | CA370989078 | RP1 | c.1006A>G (p.Lys336Glu) c.787+2600A>G (n.787+2600A>G) c.1027A>G (p.Lys343Glu) | gnomAD v4 |
8 | g.54624888A>T | CA370989079 | RP1 | c.1006A>T (p.Lys336Ter) c.787+2600A>T (n.787+2600A>T) c.1027A>T (p.Lys343Ter) | |
8 | g.54624889A= | CA1785187658 | RP1 | c.1007A= (p.Lys336=) c.787+2601A= (n.787+2601A=) c.1028A= (p.Lys343=) | |
8 | g.54624889A>C | CA370989080 | RP1 | c.1007A>C (p.Lys336Thr) c.787+2601A>C (n.787+2601A>C) c.1028A>C (p.Lys343Thr) | ClinVar |
8 | g.54624889A>G | CA370989081 | RP1 | c.1007A>G (p.Lys336Arg) c.787+2601A>G (n.787+2601A>G) c.1028A>G (p.Lys343Arg) | gnomAD v4 |
8 | g.54624889A>T | CA370989082 | RP1 | c.1007A>T (p.Lys336Ile) c.787+2601A>T (n.787+2601A>T) c.1028A>T (p.Lys343Ile) | dbSNP gnomAD v4 |
8 | g.54624890A>C | CA370989083 | RP1 | c.1008A>C (p.Lys336Asn) c.787+2602A>C (n.787+2602A>C) c.1029A>C (p.Lys343Asn) | |
8 | g.54624890A>G | CA461098183 | RP1 | c.1008A>G (p.Lys336=) c.787+2602A>G (n.787+2602A>G) c.1029A>G (p.Lys343=) | |
8 | g.54624890A>T | CA370989084 | RP1 | c.1008A>T (p.Lys336Asn) c.787+2602A>T (n.787+2602A>T) c.1029A>T (p.Lys343Asn) | |
8 | g.54624891G>A | CA370989085 | RP1 | c.1009G>A (p.Val337Ile) c.787+2603G>A (n.787+2603G>A) c.1030G>A (p.Val344Ile) | |
8 | g.54624891G>C | CA370989086 | RP1 | c.1009G>C (p.Val337Leu) c.787+2603G>C (n.787+2603G>C) c.1030G>C (p.Val344Leu) | |
8 | g.54624891G>T | CA370989087 | RP1 | c.1009G>T (p.Val337Phe) c.787+2603G>T (n.787+2603G>T) c.1030G>T (p.Val344Phe) | gnomAD v4 |
8 | g.54624892T>A | CA370989088 | RP1 | c.1010T>A (p.Val337Asp) c.787+2604T>A (n.787+2604T>A) c.1031T>A (p.Val344Asp) | |
8 | g.54624892T>C | CA370989090 | RP1 | c.1010T>C (p.Val337Ala) c.787+2604T>C (n.787+2604T>C) c.1031T>C (p.Val344Ala) | gnomAD v4 |
8 | g.54624892T>G | CA370989089 | RP1 | c.1010T>G (p.Val337Gly) c.787+2604T>G (n.787+2604T>G) c.1031T>G (p.Val344Gly) | |
8 | g.54624893T>A | CA461098188 | RP1 | c.1011T>A (p.Val337=) c.787+2605T>A (n.787+2605T>A) c.1032T>A (p.Val344=) | |
8 | g.54624893T>C | CA461098190 | RP1 | c.1011T>C (p.Val337=) c.787+2605T>C (n.787+2605T>C) c.1032T>C (p.Val344=) | |
8 | g.54624893T>G | CA461098189 | RP1 | c.1011T>G (p.Val337=) c.787+2605T>G (n.787+2605T>G) c.1032T>G (p.Val344=) | |
8 | g.54624894C>A | CA461098191 | RP1 | c.1012C>A (p.Arg338=) c.787+2606C>A (n.787+2606C>A) c.1033C>A (p.Arg345=) | |
8 | g.54624894C= | CA1785187659 | RP1 | c.1012C= (p.Arg338=) c.787+2606C= (n.787+2606C=) c.1033C= (p.Arg345=) | |
8 | g.54624894C>G | CA370989091 | RP1 | c.1012C>G (p.Arg338Gly) c.787+2606C>G (n.787+2606C>G) c.1033C>G (p.Arg345Gly) | |
8 | g.54624894C>T | CA370989092 | RP1 | c.1012C>T (p.Arg338Ter) c.787+2606C>T (n.787+2606C>T) c.1033C>T (p.Arg345Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
8 | g.54624895G>A | CA4751306 | RP1 | c.1013G>A (p.Arg338Gln) c.787+2607G>A (n.787+2607G>A) c.1034G>A (p.Arg345Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.54624895G>C | CA370989093 | RP1 | c.1013G>C (p.Arg338Pro) c.787+2607G>C (n.787+2607G>C) c.1034G>C (p.Arg345Pro) | |
8 | g.54624895G= | CA1785187660 | RP1 | c.1013G= (p.Arg338=) c.787+2607G= (n.787+2607G=) c.1034G= (p.Arg345=) | |
8 | g.54624895G>T | CA370989094 | RP1 | c.1013G>T (p.Arg338Leu) c.787+2607G>T (n.787+2607G>T) c.1034G>T (p.Arg345Leu) | gnomAD v4 |
8 | g.54624896A>C | CA461098196 | RP1 | c.1014A>C (p.Arg338=) c.787+2608A>C (n.787+2608A>C) c.1035A>C (p.Arg345=) | |
8 | g.54624896A>G | CA461098197 | RP1 | c.1014A>G (p.Arg338=) c.787+2608A>G (n.787+2608A>G) c.1035A>G (p.Arg345=) | |
8 | g.54624896A>T | CA461098198 | RP1 | c.1014A>T (p.Arg338=) c.787+2608A>T (n.787+2608A>T) c.1035A>T (p.Arg345=) | |
8 | g.54624897T>A | CA370989095 | RP1 | c.1015T>A (p.Phe339Ile) c.787+2609T>A (n.787+2609T>A) c.1036T>A (p.Phe346Ile) | |
8 | g.54624897T>C | CA370989096 | RP1 | c.1015T>C (p.Phe339Leu) c.787+2609T>C (n.787+2609T>C) c.1036T>C (p.Phe346Leu) | |
8 | g.54624897T>G | CA370989097 | RP1 | c.1015T>G (p.Phe339Val) c.787+2609T>G (n.787+2609T>G) c.1036T>G (p.Phe346Val) | |
8 | g.54624898T>A | CA370989098 | RP1 | c.1016T>A (p.Phe339Tyr) c.787+2610T>A (n.787+2610T>A) c.1037T>A (p.Phe346Tyr) | |
8 | g.54624898T>C | CA370989099 | RP1 | c.1016T>C (p.Phe339Ser) c.787+2610T>C (n.787+2610T>C) c.1037T>C (p.Phe346Ser) | |
8 | g.54624898T>G | CA370989100 | RP1 | c.1016T>G (p.Phe339Cys) c.787+2610T>G (n.787+2610T>G) c.1037T>G (p.Phe346Cys) | |
8 | g.54624899C>A | CA370989102 | RP1 | c.1017C>A (p.Phe339Leu) c.787+2611C>A (n.787+2611C>A) c.1038C>A (p.Phe346Leu) | |
8 | g.54624899C>G | CA370989101 | RP1 | c.1017C>G (p.Phe339Leu) c.787+2611C>G (n.787+2611C>G) c.1038C>G (p.Phe346Leu) | |
8 | g.54624899C>T | CA461098205 | RP1 | c.1017C>T (p.Phe339=) c.787+2611C>T (n.787+2611C>T) c.1038C>T (p.Phe346=) | |
8 | g.54624900A= | CA1785187661 | RP1 | c.1018A= (p.Arg340=) c.787+2612A= (n.787+2612A=) c.1039A= (p.Arg347=) | |
8 | g.54624900A>C | CA4751307 | RP1 | c.1018A>C (p.Arg340=) c.787+2612A>C (n.787+2612A>C) c.1039A>C (p.Arg347=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54624900A>G | CA177236597 | RP1 | c.1018A>G (p.Arg340Gly) c.787+2612A>G (n.787+2612A>G) c.1039A>G (p.Arg347Gly) | ClinVar dbSNP gnomAD v4 |
8 | g.54624900A>T | CA370989103 | RP1 | c.1018A>T (p.Arg340Ter) c.787+2612A>T (n.787+2612A>T) c.1039A>T (p.Arg347Ter) | |
8 | g.54624901G>A | CA370989104 | RP1 | c.1019G>A (p.Arg340Lys) c.787+2613G>A (n.787+2613G>A) c.1040G>A (p.Arg347Lys) | |
8 | g.54624901G>C | CA370989105 | RP1 | c.1019G>C (p.Arg340Thr) c.787+2613G>C (n.787+2613G>C) c.1040G>C (p.Arg347Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54624901G= | CA1785187662 | RP1 | c.1019G= (p.Arg340=) c.787+2613G= (n.787+2613G=) c.1040G= (p.Arg347=) | |
8 | g.54624901G>T | CA370989106 | RP1 | c.1019G>T (p.Arg340Ile) c.787+2613G>T (n.787+2613G>T) c.1040G>T (p.Arg347Ile) | COSMIC |
8 | g.54624901dup | CA582187727 | RP1 | c.1019dup (p.Ile341AsnfsTer15) c.787+2613dup (n.787+2613dup) c.1040dup (p.Ile348AsnfsTer15) | gnomAD v2 |
8 | g.54624902A>C | CA370989107 | RP1 | c.1020A>C (p.Arg340Ser) c.787+2614A>C (n.787+2614A>C) c.1041A>C (p.Arg347Ser) | |
8 | g.54624902A>G | CA461098208 | RP1 | c.1020A>G (p.Arg340=) c.787+2614A>G (n.787+2614A>G) c.1041A>G (p.Arg347=) | |
8 | g.54624902A>T | CA370989108 | RP1 | c.1020A>T (p.Arg340Ser) c.787+2614A>T (n.787+2614A>T) c.1041A>T (p.Arg347Ser) | |
8 | g.54624903A>C | CA370989109 | RP1 | c.1021A>C (p.Ile341Leu) c.787+2615A>C (n.787+2615A>C) c.1042A>C (p.Ile348Leu) | |
8 | g.54624903A>G | CA370989111 | RP1 | c.1021A>G (p.Ile341Val) c.787+2615A>G (n.787+2615A>G) c.1042A>G (p.Ile348Val) | |
8 | g.54624903A>T | CA370989110 | RP1 | c.1021A>T (p.Ile341Leu) c.787+2615A>T (n.787+2615A>T) c.1042A>T (p.Ile348Leu) | |
8 | g.54624904T>A | CA370989112 | RP1 | c.1022T>A (p.Ile341Lys) c.787+2616T>A (n.787+2616T>A) c.1043T>A (p.Ile348Lys) | |
8 | g.54624904T>C | CA370989113 | RP1 | c.1022T>C (p.Ile341Thr) c.787+2616T>C (n.787+2616T>C) c.1043T>C (p.Ile348Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54624904T>G | CA370989114 | RP1 | c.1022T>G (p.Ile341Arg) c.787+2616T>G (n.787+2616T>G) c.1043T>G (p.Ile348Arg) | |
8 | g.54624904T= | CA1785187663 | RP1 | c.1022T= (p.Ile341=) c.787+2616T= (n.787+2616T=) c.1043T= (p.Ile348=) | |
8 | g.54624905A>C | CA461098214 | RP1 | c.1023A>C (p.Ile341=) c.787+2617A>C (n.787+2617A>C) c.1044A>C (p.Ile348=) | |
8 | g.54624905A>G | CA370989115 | RP1 | c.1023A>G (p.Ile341Met) c.787+2617A>G (n.787+2617A>G) c.1044A>G (p.Ile348Met) | |
8 | g.54624905A>T | CA461098215 | RP1 | c.1023A>T (p.Ile341=) c.787+2617A>T (n.787+2617A>T) c.1044A>T (p.Ile348=) | COSMIC |
8 | g.54624906A>C | CA370989116 | RP1 | c.1024A>C (p.Lys342Gln) c.787+2618A>C (n.787+2618A>C) c.1045A>C (p.Lys349Gln) | |
8 | g.54624906A>G | CA370989118 | RP1 | c.1024A>G (p.Lys342Glu) c.787+2618A>G (n.787+2618A>G) c.1045A>G (p.Lys349Glu) | |
8 | g.54624906A>T | CA370989117 | RP1 | c.1024A>T (p.Lys342Ter) c.787+2618A>T (n.787+2618A>T) c.1045A>T (p.Lys349Ter) | |
8 | g.54624907A>C | CA370989119 | RP1 | c.1025A>C (p.Lys342Thr) c.787+2619A>C (n.787+2619A>C) c.1046A>C (p.Lys349Thr) | |
8 | g.54624907A>G | CA370989120 | RP1 | c.1025A>G (p.Lys342Arg) c.787+2619A>G (n.787+2619A>G) c.1046A>G (p.Lys349Arg) | |
8 | g.54624907A>T | CA370989121 | RP1 | c.1025A>T (p.Lys342Ile) c.787+2619A>T (n.787+2619A>T) c.1046A>T (p.Lys349Ile) | |
8 | g.54624908A>C | CA370989122 | RP1 | c.1026A>C (p.Lys342Asn) c.787+2620A>C (n.787+2620A>C) c.1047A>C (p.Lys349Asn) | |
8 | g.54624908A>G | CA461098219 | RP1 | c.1026A>G (p.Lys342=) c.787+2620A>G (n.787+2620A>G) c.1047A>G (p.Lys349=) | |
8 | g.54624908A>T | CA370989123 | RP1 | c.1026A>T (p.Lys342Asn) c.787+2620A>T (n.787+2620A>T) c.1047A>T (p.Lys349Asn) | |
8 | g.54624909G>A | CA370989124 | RP1 | c.1027G>A (p.Glu343Lys) c.787+2621G>A (n.787+2621G>A) c.1048G>A (p.Glu350Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54624909G>C | CA370989125 | RP1 | c.1027G>C (p.Glu343Gln) c.787+2621G>C (n.787+2621G>C) c.1048G>C (p.Glu350Gln) | |
8 | g.54624909G= | CA1785187664 | RP1 | c.1027G= (p.Glu343=) c.787+2621G= (n.787+2621G=) c.1048G= (p.Glu350=) | |
8 | g.54624909G>T | CA370989126 | RP1 | c.1027G>T (p.Glu343Ter) c.787+2621G>T (n.787+2621G>T) c.1048G>T (p.Glu350Ter) | |
8 | g.54624910A>C | CA370989127 | RP1 | c.1028A>C (p.Glu343Ala) c.787+2622A>C (n.787+2622A>C) c.1049A>C (p.Glu350Ala) | |
8 | g.54624910A>G | CA370989128 | RP1 | c.1028A>G (p.Glu343Gly) c.787+2622A>G (n.787+2622A>G) c.1049A>G (p.Glu350Gly) | |
8 | g.54624910A>T | CA370989129 | RP1 | c.1028A>T (p.Glu343Val) c.787+2622A>T (n.787+2622A>T) c.1049A>T (p.Glu350Val) | |
8 | g.54624911G>A | CA4751308 | RP1 | c.1029G>A (p.Glu343=) c.787+2623G>A (n.787+2623G>A) c.1050G>A (p.Glu350=) | dbSNP ExAC gnomAD v2 |
8 | g.54624911G>C | CA370989131 | RP1 | c.1029G>C (p.Glu343Asp) c.787+2623G>C (n.787+2623G>C) c.1050G>C (p.Glu350Asp) | |
8 | g.54624911G= | CA1785187665 | RP1 | c.1029G= (p.Glu343=) c.787+2623G= (n.787+2623G=) c.1050G= (p.Glu350=) | |
8 | g.54624911G>T | CA370989130 | RP1 | c.1029G>T (p.Glu343Asp) c.787+2623G>T (n.787+2623G>T) c.1050G>T (p.Glu350Asp) | |
8 | g.54624912G>A | CA370989132 | RP1 | c.1030G>A (p.Glu344Lys) c.787+2624G>A (n.787+2624G>A) c.1051G>A (p.Glu351Lys) | COSMIC |
8 | g.54624912G>C | CA370989134 | RP1 | c.1030G>C (p.Glu344Gln) c.787+2624G>C (n.787+2624G>C) c.1051G>C (p.Glu351Gln) | |
8 | g.54624912G>T | CA370989133 | RP1 | c.1030G>T (p.Glu344Ter) c.787+2624G>T (n.787+2624G>T) c.1051G>T (p.Glu351Ter) | |
8 | g.54624913A= | CA1785187666 | RP1 | c.1031A= (p.Glu344=) c.787+2625A= (n.787+2625A=) c.1052A= (p.Glu351=) | |
8 | g.54624913A>C | CA370989135 | RP1 | c.1031A>C (p.Glu344Ala) c.787+2625A>C (n.787+2625A>C) c.1052A>C (p.Glu351Ala) | |
8 | g.54624913A>G | CA370989137 | RP1 | c.1031A>G (p.Glu344Gly) c.787+2625A>G (n.787+2625A>G) c.1052A>G (p.Glu351Gly) | |
8 | g.54624913A>T | CA370989136 | RP1 | c.1031A>T (p.Glu344Val) c.787+2625A>T (n.787+2625A>T) c.1052A>T (p.Glu351Val) | dbSNP gnomAD v2 |