| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54626397C>A | CA370994014 | RP1 | c.2515C>A (p.Gln839Lys) c.787+4109C>A (n.787+4109C>A) c.2536C>A (p.Gln846Lys) | |
| 8 | g.54626397C>G | CA370994015 | RP1 | c.2515C>G (p.Gln839Glu) c.787+4109C>G (n.787+4109C>G) c.2536C>G (p.Gln846Glu) | gnomAD v4 |
| 8 | g.54626397C>T | CA370994016 | RP1 | c.2515C>T (p.Gln839Ter) c.787+4109C>T (n.787+4109C>T) c.2536C>T (p.Gln846Ter) | ClinVar dbSNP |
| 8 | g.54626398A>C | CA370994017 | RP1 | c.2516A>C (p.Gln839Pro) c.787+4110A>C (n.787+4110A>C) c.2537A>C (p.Gln846Pro) | gnomAD v4 COSMIC |
| 8 | g.54626398A>G | CA370994018 | RP1 | c.2516A>G (p.Gln839Arg) c.787+4110A>G (n.787+4110A>G) c.2537A>G (p.Gln846Arg) | |
| 8 | g.54626398A>T | CA370994019 | RP1 | c.2516A>T (p.Gln839Leu) c.787+4110A>T (n.787+4110A>T) c.2537A>T (p.Gln846Leu) | |
| 8 | g.54626399A>C | CA370994020 | RP1 | c.2517A>C (p.Gln839His) c.787+4111A>C (n.787+4111A>C) c.2538A>C (p.Gln846His) | |
| 8 | g.54626399A>G | CA461098931 | RP1 | c.2517A>G (p.Gln839=) c.787+4111A>G (n.787+4111A>G) c.2538A>G (p.Gln846=) | |
| 8 | g.54626399A>T | CA370994021 | RP1 | c.2517A>T (p.Gln839His) c.787+4111A>T (n.787+4111A>T) c.2538A>T (p.Gln846His) | |
| 8 | g.54626400G>A | CA370994022 | RP1 | c.2518G>A (p.Ala840Thr) c.787+4112G>A (n.787+4112G>A) c.2539G>A (p.Ala847Thr) | |
| 8 | g.54626400G>C | CA370994023 | RP1 | c.2518G>C (p.Ala840Pro) c.787+4112G>C (n.787+4112G>C) c.2539G>C (p.Ala847Pro) | |
| 8 | g.54626400G>T | CA370994024 | RP1 | c.2518G>T (p.Ala840Ser) c.787+4112G>T (n.787+4112G>T) c.2539G>T (p.Ala847Ser) | |
| 8 | g.54626401C>A | CA370994025 | RP1 | c.2519C>A (p.Ala840Glu) c.787+4113C>A (n.787+4113C>A) c.2540C>A (p.Ala847Glu) | |
| 8 | g.54626401C>G | CA370994026 | RP1 | c.2519C>G (p.Ala840Gly) c.787+4113C>G (n.787+4113C>G) c.2540C>G (p.Ala847Gly) | |
| 8 | g.54626401C>T | CA370994027 | RP1 | c.2519C>T (p.Ala840Val) c.787+4113C>T (n.787+4113C>T) c.2540C>T (p.Ala847Val) | gnomAD v4 |
| 8 | g.54626402A= | CA1785188304 | RP1 | c.2520A= (p.Ala840=) c.787+4114A= (n.787+4114A=) c.2541A= (p.Ala847=) | |
| 8 | g.54626402A>C | CA461098932 | RP1 | c.2520A>C (p.Ala840=) c.787+4114A>C (n.787+4114A>C) c.2541A>C (p.Ala847=) | |
| 8 | g.54626402A>G | CA4751554 | RP1 | c.2520A>G (p.Ala840=) c.787+4114A>G (n.787+4114A>G) c.2541A>G (p.Ala847=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626402A>T | CA461098933 | RP1 | c.2520A>T (p.Ala840=) c.787+4114A>T (n.787+4114A>T) c.2541A>T (p.Ala847=) | |
| 8 | g.54626403G>A | CA370994028 | RP1 | c.2521G>A (p.Glu841Lys) c.787+4115G>A (n.787+4115G>A) c.2542G>A (p.Glu848Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626403G>C | CA370994029 | RP1 | c.2521G>C (p.Glu841Gln) c.787+4115G>C (n.787+4115G>C) c.2542G>C (p.Glu848Gln) | |
| 8 | g.54626403G= | CA1785188305 | RP1 | c.2521G= (p.Glu841=) c.787+4115G= (n.787+4115G=) c.2542G= (p.Glu848=) | |
| 8 | g.54626403G>T | CA370994030 | RP1 | c.2521G>T (p.Glu841Ter) c.787+4115G>T (n.787+4115G>T) c.2542G>T (p.Glu848Ter) | |
| 8 | g.54626404A>C | CA370994031 | RP1 | c.2522A>C (p.Glu841Ala) c.787+4116A>C (n.787+4116A>C) c.2543A>C (p.Glu848Ala) | gnomAD v4 |
| 8 | g.54626404A>G | CA370994032 | RP1 | c.2522A>G (p.Glu841Gly) c.787+4116A>G (n.787+4116A>G) c.2543A>G (p.Glu848Gly) | |
| 8 | g.54626404A>T | CA370994033 | RP1 | c.2522A>T (p.Glu841Val) c.787+4116A>T (n.787+4116A>T) c.2543A>T (p.Glu848Val) | gnomAD v4 |
| 8 | g.54626405A= | CA1785188306 | RP1 | c.2523A= (p.Glu841=) c.787+4117A= (n.787+4117A=) c.2544A= (p.Glu848=) | |
| 8 | g.54626405A>C | CA370994034 | RP1 | c.2523A>C (p.Glu841Asp) c.787+4117A>C (n.787+4117A>C) c.2544A>C (p.Glu848Asp) | |
| 8 | g.54626405A>G | CA4751555 | RP1 | c.2523A>G (p.Glu841=) c.787+4117A>G (n.787+4117A>G) c.2544A>G (p.Glu848=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626405A>T | CA370994035 | RP1 | c.2523A>T (p.Glu841Asp) c.787+4117A>T (n.787+4117A>T) c.2544A>T (p.Glu848Asp) | |
| 8 | g.54626406G>A | CA10631271 | RP1 | c.2524G>A (p.Val842Met) c.787+4118G>A (n.787+4118G>A) c.2545G>A (p.Val849Met) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626406G>C | CA370994036 | RP1 | c.2524G>C (p.Val842Leu) c.787+4118G>C (n.787+4118G>C) c.2545G>C (p.Val849Leu) | |
| 8 | g.54626406G= | CA1785188307 | RP1 | c.2524G= (p.Val842=) c.787+4118G= (n.787+4118G=) c.2545G= (p.Val849=) | |
| 8 | g.54626406G>T | CA370994037 | RP1 | c.2524G>T (p.Val842Leu) c.787+4118G>T (n.787+4118G>T) c.2545G>T (p.Val849Leu) | |
| 8 | g.54626407T>A | CA370994040 | RP1 | c.2525T>A (p.Val842Glu) c.787+4119T>A (n.787+4119T>A) c.2546T>A (p.Val849Glu) | |
| 8 | g.54626407T>C | CA370994039 | RP1 | c.2525T>C (p.Val842Ala) c.787+4119T>C (n.787+4119T>C) c.2546T>C (p.Val849Ala) | gnomAD v4 |
| 8 | g.54626407T>G | CA370994038 | RP1 | c.2525T>G (p.Val842Gly) c.787+4119T>G (n.787+4119T>G) c.2546T>G (p.Val849Gly) | dbSNP |
| 8 | g.54626407T= | CA1785188308 | RP1 | c.2525T= (p.Val842=) c.787+4119T= (n.787+4119T=) c.2546T= (p.Val849=) | |
| 8 | g.54626408G>A | CA461098935 | RP1 | c.2526G>A (p.Val842=) c.787+4120G>A (n.787+4120G>A) c.2547G>A (p.Val849=) | |
| 8 | g.54626408G>C | CA461098936 | RP1 | c.2526G>C (p.Val842=) c.787+4120G>C (n.787+4120G>C) c.2547G>C (p.Val849=) | |
| 8 | g.54626408G>T | CA461098934 | RP1 | c.2526G>T (p.Val842=) c.787+4120G>T (n.787+4120G>T) c.2547G>T (p.Val849=) | |
| 8 | g.54626409G>A | CA370994041 | RP1 | c.2527G>A (p.Ala843Thr) c.787+4121G>A (n.787+4121G>A) c.2548G>A (p.Ala850Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626409G>C | CA370994043 | RP1 | c.2527G>C (p.Ala843Pro) c.787+4121G>C (n.787+4121G>C) c.2548G>C (p.Ala850Pro) | |
| 8 | g.54626409G= | CA1785188309 | RP1 | c.2527G= (p.Ala843=) c.787+4121G= (n.787+4121G=) c.2548G= (p.Ala850=) | |
| 8 | g.54626409G>T | CA370994042 | RP1 | c.2527G>T (p.Ala843Ser) c.787+4121G>T (n.787+4121G>T) c.2548G>T (p.Ala850Ser) | |
| 8 | g.54626410C>A | CA370994044 | RP1 | c.2528C>A (p.Ala843Glu) c.787+4122C>A (n.787+4122C>A) c.2549C>A (p.Ala850Glu) | |
| 8 | g.54626410C>G | CA370994045 | RP1 | c.2528C>G (p.Ala843Gly) c.787+4122C>G (n.787+4122C>G) c.2549C>G (p.Ala850Gly) | |
| 8 | g.54626410C>T | CA370994046 | RP1 | c.2528C>T (p.Ala843Val) c.787+4122C>T (n.787+4122C>T) c.2549C>T (p.Ala850Val) | |
| 8 | g.54626411A= | CA1785188310 | RP1 | c.2529A= (p.Ala843=) c.787+4123A= (n.787+4123A=) c.2550A= (p.Ala850=) | |
| 8 | g.54626411A>C | CA4751556 | RP1 | c.2529A>C (p.Ala843=) c.787+4123A>C (n.787+4123A>C) c.2550A>C (p.Ala850=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626411A>G | CA461098937 | RP1 | c.2529A>G (p.Ala843=) c.787+4123A>G (n.787+4123A>G) c.2550A>G (p.Ala850=) | |
| 8 | g.54626411A>T | CA177237229 | RP1 | c.2529A>T (p.Ala843=) c.787+4123A>T (n.787+4123A>T) c.2550A>T (p.Ala850=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626412T>A | CA370994047 | RP1 | c.2530T>A (p.Ser844Thr) c.787+4124T>A (n.787+4124T>A) c.2551T>A (p.Ser851Thr) | |
| 8 | g.54626412T>C | CA370994048 | RP1 | c.2530T>C (p.Ser844Pro) c.787+4124T>C (n.787+4124T>C) c.2551T>C (p.Ser851Pro) | |
| 8 | g.54626412T>G | CA370994049 | RP1 | c.2530T>G (p.Ser844Ala) c.787+4124T>G (n.787+4124T>G) c.2551T>G (p.Ser851Ala) | |
| 8 | g.54626413C>A | CA370994050 | RP1 | c.2531C>A (p.Ser844Tyr) c.787+4125C>A (n.787+4125C>A) c.2552C>A (p.Ser851Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626413C= | CA1785188311 | RP1 | c.2531C= (p.Ser844=) c.787+4125C= (n.787+4125C=) c.2552C= (p.Ser851=) | |
| 8 | g.54626413C>G | CA370994051 | RP1 | c.2531C>G (p.Ser844Cys) c.787+4125C>G (n.787+4125C>G) c.2552C>G (p.Ser851Cys) | |
| 8 | g.54626413C>T | CA370994052 | RP1 | c.2531C>T (p.Ser844Phe) c.787+4125C>T (n.787+4125C>T) c.2552C>T (p.Ser851Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54626414T>A | CA461098938 | RP1 | c.2532T>A (p.Ser844=) c.787+4126T>A (n.787+4126T>A) c.2553T>A (p.Ser851=) | COSMIC |
| 8 | g.54626414T>C | CA461098940 | RP1 | c.2532T>C (p.Ser844=) c.787+4126T>C (n.787+4126T>C) c.2553T>C (p.Ser851=) | |
| 8 | g.54626414T>G | CA461098939 | RP1 | c.2532T>G (p.Ser844=) c.787+4126T>G (n.787+4126T>G) c.2553T>G (p.Ser851=) | |
| 8 | g.54626415G>A | CA370994053 | RP1 | c.2533G>A (p.Gly845Arg) c.787+4127G>A (n.787+4127G>A) c.2554G>A (p.Gly852Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626415G>C | CA370994054 | RP1 | c.2533G>C (p.Gly845Arg) c.787+4127G>C (n.787+4127G>C) c.2554G>C (p.Gly852Arg) | |
| 8 | g.54626415G= | CA1785188312 | RP1 | c.2533G= (p.Gly845=) c.787+4127G= (n.787+4127G=) c.2554G= (p.Gly852=) | |
| 8 | g.54626415G>T | CA370994055 | RP1 | c.2533G>T (p.Gly845Trp) c.787+4127G>T (n.787+4127G>T) c.2554G>T (p.Gly852Trp) | |
| 8 | g.54626416G>A | CA370994056 | RP1 | c.2534G>A (p.Gly845Glu) c.787+4128G>A (n.787+4128G>A) c.2555G>A (p.Gly852Glu) | |
| 8 | g.54626416G>C | CA370994058 | RP1 | c.2534G>C (p.Gly845Ala) c.787+4128G>C (n.787+4128G>C) c.2555G>C (p.Gly852Ala) | |
| 8 | g.54626416G>T | CA370994057 | RP1 | c.2534G>T (p.Gly845Val) c.787+4128G>T (n.787+4128G>T) c.2555G>T (p.Gly852Val) | |
| 8 | g.54626417G>A | CA461098941 | RP1 | c.2535G>A (p.Gly845=) c.787+4129G>A (n.787+4129G>A) c.2556G>A (p.Gly852=) | |
| 8 | g.54626417G>C | CA461098942 | RP1 | c.2535G>C (p.Gly845=) c.787+4129G>C (n.787+4129G>C) c.2556G>C (p.Gly852=) | |
| 8 | g.54626417G= | CA1785188313 | RP1 | c.2535G= (p.Gly845=) c.787+4129G= (n.787+4129G=) c.2556G= (p.Gly852=) | |
| 8 | g.54626417G>T | CA461098943 | RP1 | c.2535G>T (p.Gly845=) c.787+4129G>T (n.787+4129G>T) c.2556G>T (p.Gly852=) | dbSNP gnomAD v4 |
| 8 | g.54626418T>A | CA370994059 | RP1 | c.2536T>A (p.Tyr846Asn) c.787+4130T>A (n.787+4130T>A) c.2557T>A (p.Tyr853Asn) | |
| 8 | g.54626418T>C | CA370994060 | RP1 | c.2536T>C (p.Tyr846His) c.787+4130T>C (n.787+4130T>C) c.2557T>C (p.Tyr853His) | |
| 8 | g.54626418T>G | CA370994061 | RP1 | c.2536T>G (p.Tyr846Asp) c.787+4130T>G (n.787+4130T>G) c.2557T>G (p.Tyr853Asp) | |
| 8 | g.54626419A>C | CA370994062 | RP1 | c.2537A>C (p.Tyr846Ser) c.787+4131A>C (n.787+4131A>C) c.2558A>C (p.Tyr853Ser) | |
| 8 | g.54626419A>G | CA370994063 | RP1 | c.2537A>G (p.Tyr846Cys) c.787+4131A>G (n.787+4131A>G) c.2558A>G (p.Tyr853Cys) | gnomAD v4 |
| 8 | g.54626419A>T | CA370994064 | RP1 | c.2537A>T (p.Tyr846Phe) c.787+4131A>T (n.787+4131A>T) c.2558A>T (p.Tyr853Phe) | gnomAD v4 |
| 8 | g.54626420T>A | CA370994065 | RP1 | c.2538T>A (p.Tyr846Ter) c.787+4132T>A (n.787+4132T>A) c.2559T>A (p.Tyr853Ter) | |
| 8 | g.54626420T>C | CA461098944 | RP1 | c.2538T>C (p.Tyr846=) c.787+4132T>C (n.787+4132T>C) c.2559T>C (p.Tyr853=) | gnomAD v4 |
| 8 | g.54626420T>G | CA370994066 | RP1 | c.2538T>G (p.Tyr846Ter) c.787+4132T>G (n.787+4132T>G) c.2559T>G (p.Tyr853Ter) | |
| 8 | g.54626421T>A | CA370994067 | RP1 | c.2539T>A (p.Leu847Met) c.787+4133T>A (n.787+4133T>A) c.2560T>A (p.Leu854Met) | |
| 8 | g.54626421T>C | CA461098945 | RP1 | c.2539T>C (p.Leu847=) c.787+4133T>C (n.787+4133T>C) c.2560T>C (p.Leu854=) | |
| 8 | g.54626421T>G | CA370994068 | RP1 | c.2539T>G (p.Leu847Val) c.787+4133T>G (n.787+4133T>G) c.2560T>G (p.Leu854Val) | |
| 8 | g.54626422T>A | CA370994071 | RP1 | c.2540T>A (p.Leu847Ter) c.787+4134T>A (n.787+4134T>A) c.2561T>A (p.Leu854Ter) | |
| 8 | g.54626422T>C | CA370994070 | RP1 | c.2540T>C (p.Leu847Ser) c.787+4134T>C (n.787+4134T>C) c.2561T>C (p.Leu854Ser) | |
| 8 | g.54626422T>G | CA370994069 | RP1 | c.2540T>G (p.Leu847Trp) c.787+4134T>G (n.787+4134T>G) c.2561T>G (p.Leu854Trp) | gnomAD v4 |
| 8 | g.54626423G>A | CA461098946 | RP1 | c.2541G>A (p.Leu847=) c.787+4135G>A (n.787+4135G>A) c.2562G>A (p.Leu854=) | |
| 8 | g.54626423G>C | CA370994072 | RP1 | c.2541G>C (p.Leu847Phe) c.787+4135G>C (n.787+4135G>C) c.2562G>C (p.Leu854Phe) | COSMIC |
| 8 | g.54626423G>T | CA370994073 | RP1 | c.2541G>T (p.Leu847Phe) c.787+4135G>T (n.787+4135G>T) c.2562G>T (p.Leu854Phe) | |
| 8 | g.54626424A>C | CA461098947 | RP1 | c.2542A>C (p.Arg848=) c.787+4136A>C (n.787+4136A>C) c.2563A>C (p.Arg855=) | gnomAD v4 |
| 8 | g.54626424A>G | CA370994074 | RP1 | c.2542A>G (p.Arg848Gly) c.787+4136A>G (n.787+4136A>G) c.2563A>G (p.Arg855Gly) | |
| 8 | g.54626424A>T | CA370994075 | RP1 | c.2542A>T (p.Arg848Ter) c.787+4136A>T (n.787+4136A>T) c.2563A>T (p.Arg855Ter) | |
| 8 | g.54626425G>A | CA370994076 | RP1 | c.2543G>A (p.Arg848Lys) c.787+4137G>A (n.787+4137G>A) c.2564G>A (p.Arg855Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54626425G>C | CA370994077 | RP1 | c.2543G>C (p.Arg848Thr) c.787+4137G>C (n.787+4137G>C) c.2564G>C (p.Arg855Thr) | |
| 8 | g.54626425G= | CA1785188314 | RP1 | c.2543G= (p.Arg848=) c.787+4137G= (n.787+4137G=) c.2564G= (p.Arg855=) | |
| 8 | g.54626425G>T | CA370994078 | RP1 | c.2543G>T (p.Arg848Ile) c.787+4137G>T (n.787+4137G>T) c.2564G>T (p.Arg855Ile) | |
| 8 | g.54626426A= | CA1785188315 | RP1 | c.2544A= (p.Arg848=) c.787+4138A= (n.787+4138A=) c.2565A= (p.Arg855=) | |
| 8 | g.54626426A>C | CA370994079 | RP1 | c.2544A>C (p.Arg848Ser) c.787+4138A>C (n.787+4138A>C) c.2565A>C (p.Arg855Ser) | |
| 8 | g.54626426A>G | CA4751557 | RP1 | c.2544A>G (p.Arg848=) c.787+4138A>G (n.787+4138A>G) c.2565A>G (p.Arg855=) | dbSNP ExAC gnomAD v2 |
| 8 | g.54626426A>T | CA370994080 | RP1 | c.2544A>T (p.Arg848Ser) c.787+4138A>T (n.787+4138A>T) c.2565A>T (p.Arg855Ser) | |
| 8 | g.54626427G>A | CA370994081 | RP1 | c.2545G>A (p.Gly849Arg) c.787+4139G>A (n.787+4139G>A) c.2566G>A (p.Gly856Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626427G>C | CA370994082 | RP1 | c.2545G>C (p.Gly849Arg) c.787+4139G>C (n.787+4139G>C) c.2566G>C (p.Gly856Arg) | |
| 8 | g.54626427G= | CA1785188316 | RP1 | c.2545G= (p.Gly849=) c.787+4139G= (n.787+4139G=) c.2566G= (p.Gly856=) | |
| 8 | g.54626427G>T | CA370994083 | RP1 | c.2545G>T (p.Gly849Ter) c.787+4139G>T (n.787+4139G>T) c.2566G>T (p.Gly856Ter) | COSMIC |
| 8 | g.54626428G>A | CA370994086 | RP1 | c.2546G>A (p.Gly849Glu) c.787+4140G>A (n.787+4140G>A) c.2567G>A (p.Gly856Glu) | |
| 8 | g.54626428G>C | CA370994084 | RP1 | c.2546G>C (p.Gly849Ala) c.787+4140G>C (n.787+4140G>C) c.2567G>C (p.Gly856Ala) | |
| 8 | g.54626428G>T | CA370994085 | RP1 | c.2546G>T (p.Gly849Val) c.787+4140G>T (n.787+4140G>T) c.2567G>T (p.Gly856Val) | |
| 8 | g.54626429A>C | CA461098950 | RP1 | c.2547A>C (p.Gly849=) c.787+4141A>C (n.787+4141A>C) c.2568A>C (p.Gly856=) | |
| 8 | g.54626429A>G | CA461098949 | RP1 | c.2547A>G (p.Gly849=) c.787+4141A>G (n.787+4141A>G) c.2568A>G (p.Gly856=) | |
| 8 | g.54626429A>T | CA461098948 | RP1 | c.2547A>T (p.Gly849=) c.787+4141A>T (n.787+4141A>T) c.2568A>T (p.Gly856=) | |
| 8 | g.54626430A= | CA1785188317 | RP1 | c.2548A= (p.Met850=) c.787+4142A= (n.787+4142A=) c.2569A= (p.Met857=) | |
| 8 | g.54626430A>C | CA370994087 | RP1 | c.2548A>C (p.Met850Leu) c.787+4142A>C (n.787+4142A>C) c.2569A>C (p.Met857Leu) | |
| 8 | g.54626430A>G | CA177237230 | RP1 | c.2548A>G (p.Met850Val) c.787+4142A>G (n.787+4142A>G) c.2569A>G (p.Met857Val) | dbSNP |
| 8 | g.54626430A>T | CA370994088 | RP1 | c.2548A>T (p.Met850Leu) c.787+4142A>T (n.787+4142A>T) c.2569A>T (p.Met857Leu) | |
| 8 | g.54626431T>A | CA370994089 | RP1 | c.2549T>A (p.Met850Lys) c.787+4143T>A (n.787+4143T>A) c.2570T>A (p.Met857Lys) | |
| 8 | g.54626431T>C | CA370994090 | RP1 | c.2549T>C (p.Met850Thr) c.787+4143T>C (n.787+4143T>C) c.2570T>C (p.Met857Thr) | dbSNP gnomAD v4 |
| 8 | g.54626431T>G | CA370994091 | RP1 | c.2549T>G (p.Met850Arg) c.787+4143T>G (n.787+4143T>G) c.2570T>G (p.Met857Arg) | |
| 8 | g.54626431T= | CA1785188318 | RP1 | c.2549T= (p.Met850=) c.787+4143T= (n.787+4143T=) c.2570T= (p.Met857=) | |
| 8 | g.54626432G>A | CA370994092 | RP1 | c.2550G>A (p.Met850Ile) c.787+4144G>A (n.787+4144G>A) c.2571G>A (p.Met857Ile) | gnomAD v4 |
| 8 | g.54626432G>C | CA370994093 | RP1 | c.2550G>C (p.Met850Ile) c.787+4144G>C (n.787+4144G>C) c.2571G>C (p.Met857Ile) | |
| 8 | g.54626432G>T | CA370994094 | RP1 | c.2550G>T (p.Met850Ile) c.787+4144G>T (n.787+4144G>T) c.2571G>T (p.Met857Ile) | |
| 8 | g.54626433G>A | CA370994095 | RP1 | c.2551G>A (p.Ala851Thr) c.787+4145G>A (n.787+4145G>A) c.2572G>A (p.Ala858Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626433G>C | CA370994096 | RP1 | c.2551G>C (p.Ala851Pro) c.787+4145G>C (n.787+4145G>C) c.2572G>C (p.Ala858Pro) | |
| 8 | g.54626433G= | CA1785188319 | RP1 | c.2551G= (p.Ala851=) c.787+4145G= (n.787+4145G=) c.2572G= (p.Ala858=) | |
| 8 | g.54626433G>T | CA370994097 | RP1 | c.2551G>T (p.Ala851Ser) c.787+4145G>T (n.787+4145G>T) c.2572G>T (p.Ala858Ser) | |
| 8 | g.54626434C>A | CA370994099 | RP1 | c.2552C>A (p.Ala851Glu) c.787+4146C>A (n.787+4146C>A) c.2573C>A (p.Ala858Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626434C= | CA1785188320 | RP1 | c.2552C= (p.Ala851=) c.787+4146C= (n.787+4146C=) c.2573C= (p.Ala858=) | |
| 8 | g.54626434C>G | CA370994098 | RP1 | c.2552C>G (p.Ala851Gly) c.787+4146C>G (n.787+4146C>G) c.2573C>G (p.Ala858Gly) | |
| 8 | g.54626434C>T | CA177237231 | RP1 | c.2552C>T (p.Ala851Val) c.787+4146C>T (n.787+4146C>T) c.2573C>T (p.Ala858Val) | dbSNP |
| 8 | g.54626435A>C | CA461098951 | RP1 | c.2553A>C (p.Ala851=) c.787+4147A>C (n.787+4147A>C) c.2574A>C (p.Ala858=) | gnomAD v4 |
| 8 | g.54626435A>G | CA461098952 | RP1 | c.2553A>G (p.Ala851=) c.787+4147A>G (n.787+4147A>G) c.2574A>G (p.Ala858=) | gnomAD v4 |
| 8 | g.54626435A>T | CA461098953 | RP1 | c.2553A>T (p.Ala851=) c.787+4147A>T (n.787+4147A>T) c.2574A>T (p.Ala858=) | |
| 8 | g.54626437del | CA2580078394 | RP1 | c.2555del (p.Lys852ArgfsTer4) c.787+4149del (n.787+4149del) c.2576del (p.Lys859ArgfsTer4) | ClinVar |
| 8 | g.54626436_54626440del | CA2687301837 | RP1 | c.2554_2558del (p.Lys852GlufsTer8) c.787+4148_787+4152del (n.787+4148_787+4152del) c.2575_2579del (p.Lys859GlufsTer8) | gnomAD v4 |
| 8 | g.54626436A>C | CA370994100 | RP1 | c.2554A>C (p.Lys852Gln) c.787+4148A>C (n.787+4148A>C) c.2575A>C (p.Lys859Gln) | |
| 8 | g.54626436A>G | CA370994102 | RP1 | c.2554A>G (p.Lys852Glu) c.787+4148A>G (n.787+4148A>G) c.2575A>G (p.Lys859Glu) | |
| 8 | g.54626436A>T | CA370994101 | RP1 | c.2554A>T (p.Lys852Ter) c.787+4148A>T (n.787+4148A>T) c.2575A>T (p.Lys859Ter) | |
| 8 | g.54626437A= | CA1785188321 | RP1 | c.2555A= (p.Lys852=) c.787+4149A= (n.787+4149A=) c.2576A= (p.Lys859=) | |
| 8 | g.54626437A>C | CA370994103 | RP1 | c.2555A>C (p.Lys852Thr) c.787+4149A>C (n.787+4149A>C) c.2576A>C (p.Lys859Thr) | |
| 8 | g.54626437A>G | CA370994105 | RP1 | c.2555A>G (p.Lys852Arg) c.787+4149A>G (n.787+4149A>G) c.2576A>G (p.Lys859Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626437A>T | CA370994104 | RP1 | c.2555A>T (p.Lys852Met) c.787+4149A>T (n.787+4149A>T) c.2576A>T (p.Lys859Met) | |
| 8 | g.54626438G>A | CA461098954 | RP1 | c.2556G>A (p.Lys852=) c.787+4150G>A (n.787+4150G>A) c.2577G>A (p.Lys859=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626438G>C | CA370994106 | RP1 | c.2556G>C (p.Lys852Asn) c.787+4150G>C (n.787+4150G>C) c.2577G>C (p.Lys859Asn) | |
| 8 | g.54626438G= | CA1785188322 | RP1 | c.2556G= (p.Lys852=) c.787+4150G= (n.787+4150G=) c.2577G= (p.Lys859=) | |
| 8 | g.54626438G>T | CA370994107 | RP1 | c.2556G>T (p.Lys852Asn) c.787+4150G>T (n.787+4150G>T) c.2577G>T (p.Lys859Asn) | |
| 8 | g.54626439A>C | CA370994108 | RP1 | c.2557A>C (p.Lys853Gln) c.787+4151A>C (n.787+4151A>C) c.2578A>C (p.Lys860Gln) | |
| 8 | g.54626439A>G | CA370994109 | RP1 | c.2557A>G (p.Lys853Glu) c.787+4151A>G (n.787+4151A>G) c.2578A>G (p.Lys860Glu) | |
| 8 | g.54626439A>T | CA370994110 | RP1 | c.2557A>T (p.Lys853Ter) c.787+4151A>T (n.787+4151A>T) c.2578A>T (p.Lys860Ter) | |
| 8 | g.54626440A= | CA1785188323 | RP1 | c.2558A= (p.Lys853=) c.787+4152A= (n.787+4152A=) c.2579A= (p.Lys860=) | |
| 8 | g.54626440A>C | CA370994111 | RP1 | c.2558A>C (p.Lys853Thr) c.787+4152A>C (n.787+4152A>C) c.2579A>C (p.Lys860Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626440A>G | CA4751558 | RP1 | c.2558A>G (p.Lys853Arg) c.787+4152A>G (n.787+4152A>G) c.2579A>G (p.Lys860Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626440A>T | CA370994112 | RP1 | c.2558A>T (p.Lys853Met) c.787+4152A>T (n.787+4152A>T) c.2579A>T (p.Lys860Met) | |
| 8 | g.54626441G>A | CA461098955 | RP1 | c.2559G>A (p.Lys853=) c.787+4153G>A (n.787+4153G>A) c.2580G>A (p.Lys860=) | dbSNP gnomAD v4 COSMIC |
| 8 | g.54626441G>C | CA370994113 | RP1 | c.2559G>C (p.Lys853Asn) c.787+4153G>C (n.787+4153G>C) c.2580G>C (p.Lys860Asn) | |
| 8 | g.54626441G= | CA1785188324 | RP1 | c.2559G= (p.Lys853=) c.787+4153G= (n.787+4153G=) c.2580G= (p.Lys860=) | |
| 8 | g.54626441G>T | CA370994114 | RP1 | c.2559G>T (p.Lys853Asn) c.787+4153G>T (n.787+4153G>T) c.2580G>T (p.Lys860Asn) | |
| 8 | g.54626442del | CA2740095045 | RP1 | c.2560del (p.Ser854ValfsTer2) c.787+4154del (n.787+4154del) c.2581del (p.Ser861ValfsTer2) | ClinVar |
| 8 | g.54626442A= | CA1785188325 | RP1 | c.2560A= (p.Ser854=) c.787+4154A= (n.787+4154A=) c.2581A= (p.Ser861=) | |
| 8 | g.54626442A>C | CA370994115 | RP1 | c.2560A>C (p.Ser854Arg) c.787+4154A>C (n.787+4154A>C) c.2581A>C (p.Ser861Arg) | |
| 8 | g.54626442A>G | CA370994116 | RP1 | c.2560A>G (p.Ser854Gly) c.787+4154A>G (n.787+4154A>G) c.2581A>G (p.Ser861Gly) | |
| 8 | g.54626442A>T | CA370994117 | RP1 | c.2560A>T (p.Ser854Cys) c.787+4154A>T (n.787+4154A>T) c.2581A>T (p.Ser861Cys) | dbSNP |
| 8 | g.54626443G>A | CA370994120 | RP1 | c.2561G>A (p.Ser854Asn) c.787+4155G>A (n.787+4155G>A) c.2582G>A (p.Ser861Asn) | |
| 8 | g.54626443G>C | CA370994119 | RP1 | c.2561G>C (p.Ser854Thr) c.787+4155G>C (n.787+4155G>C) c.2582G>C (p.Ser861Thr) | |
| 8 | g.54626443G>T | CA370994118 | RP1 | c.2561G>T (p.Ser854Ile) c.787+4155G>T (n.787+4155G>T) c.2582G>T (p.Ser861Ile) | |
| 8 | g.54626443_54626444delinsGT | CA1785188326 | RP1 | c.2561_2562delinsGT (p.Ser854=) c.787+4155_787+4156delinsGT (n.787+4155_787+4156delinsGT) c.2582_2583delinsGT (p.Ser861=) | |
| 8 | g.54626444T>A | CA370994121 | RP1 | c.2562T>A (p.Ser854Arg) c.787+4156T>A (n.787+4156T>A) c.2583T>A (p.Ser861Arg) | gnomAD v4 |
| 8 | g.54626444T>C | CA461098956 | RP1 | c.2562T>C (p.Ser854=) c.787+4156T>C (n.787+4156T>C) c.2583T>C (p.Ser861=) | |
| 8 | g.54626444T>G | CA370994122 | RP1 | c.2562T>G (p.Ser854Arg) c.787+4156T>G (n.787+4156T>G) c.2583T>G (p.Ser861Arg) | |
| 8 | g.54626446dup | CA461098957 | RP1 | c.2564dup (p.Leu855PhefsTer7) c.787+4158dup (n.787+4158dup) c.2585dup (p.Leu862PhefsTer7) | COSMIC |
| 8 | g.54626446del | CA582205655 | RP1 | c.2564del (p.Leu855Ter) c.787+4158del (n.787+4158del) c.2585del (p.Leu862Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626445T>A | CA370994123 | RP1 | c.2563T>A (p.Leu855Ile) c.787+4157T>A (n.787+4157T>A) c.2584T>A (p.Leu862Ile) | |
| 8 | g.54626445T>C | CA461098958 | RP1 | c.2563T>C (p.Leu855=) c.787+4157T>C (n.787+4157T>C) c.2584T>C (p.Leu862=) | gnomAD v4 |
| 8 | g.54626445T>G | CA4751559 | RP1 | c.2563T>G (p.Leu855Val) c.787+4157T>G (n.787+4157T>G) c.2584T>G (p.Leu862Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626445T= | CA1785188327 | RP1 | c.2563T= (p.Leu855=) c.787+4157T= (n.787+4157T=) c.2584T= (p.Leu862=) | |
| 8 | g.54626446T>A | CA370994124 | RP1 | c.2564T>A (p.Leu855Ter) c.787+4158T>A (n.787+4158T>A) c.2585T>A (p.Leu862Ter) | |
| 8 | g.54626446T>C | CA4751560 | RP1 | c.2564T>C (p.Leu855Ser) c.787+4158T>C (n.787+4158T>C) c.2585T>C (p.Leu862Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626446T>G | CA370994125 | RP1 | c.2564T>G (p.Leu855Ter) c.787+4158T>G (n.787+4158T>G) c.2585T>G (p.Leu862Ter) | |
| 8 | g.54626446T= | CA1785188328 | RP1 | c.2564T= (p.Leu855=) c.787+4158T= (n.787+4158T=) c.2585T= (p.Leu862=) | |
| 8 | g.54626447A>C | CA370994126 | RP1 | c.2565A>C (p.Leu855Phe) c.787+4159A>C (n.787+4159A>C) c.2586A>C (p.Leu862Phe) | |
| 8 | g.54626447A>G | CA461098959 | RP1 | c.2565A>G (p.Leu855=) c.787+4159A>G (n.787+4159A>G) c.2586A>G (p.Leu862=) | |
| 8 | g.54626447A>T | CA370994127 | RP1 | c.2565A>T (p.Leu855Phe) c.787+4159A>T (n.787+4159A>T) c.2586A>T (p.Leu862Phe) | |
| 8 | g.54626448G>A | CA370994128 | RP1 | c.2566G>A (p.Val856Ile) c.787+4160G>A (n.787+4160G>A) c.2587G>A (p.Val863Ile) | |
| 8 | g.54626448G>C | CA370994129 | RP1 | c.2566G>C (p.Val856Leu) c.787+4160G>C (n.787+4160G>C) c.2587G>C (p.Val863Leu) | |
| 8 | g.54626448G>T | CA370994130 | RP1 | c.2566G>T (p.Val856Phe) c.787+4160G>T (n.787+4160G>T) c.2587G>T (p.Val863Phe) | |
| 8 | g.54626449T>A | CA370994133 | RP1 | c.2567T>A (p.Val856Asp) c.787+4161T>A (n.787+4161T>A) c.2588T>A (p.Val863Asp) | |
| 8 | g.54626449T>C | CA370994132 | RP1 | c.2567T>C (p.Val856Ala) c.787+4161T>C (n.787+4161T>C) c.2588T>C (p.Val863Ala) | |
| 8 | g.54626449T>G | CA370994131 | RP1 | c.2567T>G (p.Val856Gly) c.787+4161T>G (n.787+4161T>G) c.2588T>G (p.Val863Gly) | gnomAD v4 |
| 8 | g.54626450T>A | CA461098960 | RP1 | c.2568T>A (p.Val856=) c.787+4162T>A (n.787+4162T>A) c.2589T>A (p.Val863=) | |
| 8 | g.54626450T>C | CA461098961 | RP1 | c.2568T>C (p.Val856=) c.787+4162T>C (n.787+4162T>C) c.2589T>C (p.Val863=) | |
| 8 | g.54626450T>G | CA461098962 | RP1 | c.2568T>G (p.Val856=) c.787+4162T>G (n.787+4162T>G) c.2589T>G (p.Val863=) | |
| 8 | g.54626451T>A | CA370994134 | RP1 | c.2569T>A (p.Ser857Thr) c.787+4163T>A (n.787+4163T>A) c.2590T>A (p.Ser864Thr) | |
| 8 | g.54626451T>C | CA370994135 | RP1 | c.2569T>C (p.Ser857Pro) c.787+4163T>C (n.787+4163T>C) c.2590T>C (p.Ser864Pro) | |
| 8 | g.54626451T>G | CA370994136 | RP1 | c.2569T>G (p.Ser857Ala) c.787+4163T>G (n.787+4163T>G) c.2590T>G (p.Ser864Ala) | |
| 8 | g.54626452C>A | CA370994137 | RP1 | c.2570C>A (p.Ser857Ter) c.787+4164C>A (n.787+4164C>A) c.2591C>A (p.Ser864Ter) | COSMIC |
| 8 | g.54626452C= | CA1785188329 | RP1 | c.2570C= (p.Ser857=) c.787+4164C= (n.787+4164C=) c.2591C= (p.Ser864=) | |
| 8 | g.54626452C>G | CA16606128 | RP1 | c.2570C>G (p.Ser857Ter) c.787+4164C>G (n.787+4164C>G) c.2591C>G (p.Ser864Ter) | ClinVar dbSNP |
| 8 | g.54626452C>T | CA370994138 | RP1 | c.2570C>T (p.Ser857Leu) c.787+4164C>T (n.787+4164C>T) c.2591C>T (p.Ser864Leu) | |
| 8 | g.54626453A>C | CA461098963 | RP1 | c.2571A>C (p.Ser857=) c.787+4165A>C (n.787+4165A>C) c.2592A>C (p.Ser864=) | |
| 8 | g.54626453A>G | CA461098964 | RP1 | c.2571A>G (p.Ser857=) c.787+4165A>G (n.787+4165A>G) c.2592A>G (p.Ser864=) | |
| 8 | g.54626453A>T | CA461098965 | RP1 | c.2571A>T (p.Ser857=) c.787+4165A>T (n.787+4165A>T) c.2592A>T (p.Ser864=) | |
| 8 | g.54626456del | CA2580078395 | RP1 | c.2574del (p.Val859LeufsTer6) c.787+4168del (n.787+4168del) c.2595del (p.Val866LeufsTer6) | ClinVar |
| 8 | g.54626454A>C | CA370994139 | RP1 | c.2572A>C (p.Lys858Gln) c.787+4166A>C (n.787+4166A>C) c.2593A>C (p.Lys865Gln) | |
| 8 | g.54626454A>G | CA370994140 | RP1 | c.2572A>G (p.Lys858Glu) c.787+4166A>G (n.787+4166A>G) c.2593A>G (p.Lys865Glu) | |
| 8 | g.54626454A>T | CA370994141 | RP1 | c.2572A>T (p.Lys858Ter) c.787+4166A>T (n.787+4166A>T) c.2593A>T (p.Lys865Ter) | |
| 8 | g.54626455A>C | CA370994142 | RP1 | c.2573A>C (p.Lys858Thr) c.787+4167A>C (n.787+4167A>C) c.2594A>C (p.Lys865Thr) | |
| 8 | g.54626455A>G | CA370994143 | RP1 | c.2573A>G (p.Lys858Arg) c.787+4167A>G (n.787+4167A>G) c.2594A>G (p.Lys865Arg) | |
| 8 | g.54626455A>T | CA370994144 | RP1 | c.2573A>T (p.Lys858Ile) c.787+4167A>T (n.787+4167A>T) c.2594A>T (p.Lys865Ile) | |
| 8 | g.54626456A>C | CA370994146 | RP1 | c.2574A>C (p.Lys858Asn) c.787+4168A>C (n.787+4168A>C) c.2595A>C (p.Lys865Asn) | |
| 8 | g.54626456A>G | CA461098966 | RP1 | c.2574A>G (p.Lys858=) c.787+4168A>G (n.787+4168A>G) c.2595A>G (p.Lys865=) | gnomAD v4 |
| 8 | g.54626456A>T | CA370994145 | RP1 | c.2574A>T (p.Lys858Asn) c.787+4168A>T (n.787+4168A>T) c.2595A>T (p.Lys865Asn) | |
| 8 | g.54626457G>A | CA370994147 | RP1 | c.2575G>A (p.Val859Ile) c.787+4169G>A (n.787+4169G>A) c.2596G>A (p.Val866Ile) | |
| 8 | g.54626457G>C | CA370994148 | RP1 | c.2575G>C (p.Val859Leu) c.787+4169G>C (n.787+4169G>C) c.2596G>C (p.Val866Leu) | |
| 8 | g.54626457G>T | CA370994149 | RP1 | c.2575G>T (p.Val859Phe) c.787+4169G>T (n.787+4169G>T) c.2596G>T (p.Val866Phe) | gnomAD v4 |
| 8 | g.54626458T>A | CA370994150 | RP1 | c.2576T>A (p.Val859Asp) c.787+4170T>A (n.787+4170T>A) c.2597T>A (p.Val866Asp) | |
| 8 | g.54626458T>C | CA370994151 | RP1 | c.2576T>C (p.Val859Ala) c.787+4170T>C (n.787+4170T>C) c.2597T>C (p.Val866Ala) | |
| 8 | g.54626458T>G | CA177237237 | RP1 | c.2576T>G (p.Val859Gly) c.787+4170T>G (n.787+4170T>G) c.2597T>G (p.Val866Gly) | dbSNP |
| 8 | g.54626458T= | CA1785188330 | RP1 | c.2576T= (p.Val859=) c.787+4170T= (n.787+4170T=) c.2597T= (p.Val866=) | |
| 8 | g.54626459T>A | CA461098967 | RP1 | c.2577T>A (p.Val859=) c.787+4171T>A (n.787+4171T>A) c.2598T>A (p.Val866=) | |
| 8 | g.54626459T>C | CA461098968 | RP1 | c.2577T>C (p.Val859=) c.787+4171T>C (n.787+4171T>C) c.2598T>C (p.Val866=) | |
| 8 | g.54626459T>G | CA461098969 | RP1 | c.2577T>G (p.Val859=) c.787+4171T>G (n.787+4171T>G) c.2598T>G (p.Val866=) | |
| 8 | g.54626460A>C | CA370994152 | RP1 | c.2578A>C (p.Thr860Pro) c.787+4172A>C (n.787+4172A>C) c.2599A>C (p.Thr867Pro) | |
| 8 | g.54626460A>G | CA370994153 | RP1 | c.2578A>G (p.Thr860Ala) c.787+4172A>G (n.787+4172A>G) c.2599A>G (p.Thr867Ala) | |
| 8 | g.54626460A>T | CA370994154 | RP1 | c.2578A>T (p.Thr860Ser) c.787+4172A>T (n.787+4172A>T) c.2599A>T (p.Thr867Ser) | |
| 8 | g.54626461C>A | CA370994155 | RP1 | c.2579C>A (p.Thr860Asn) c.787+4173C>A (n.787+4173C>A) c.2600C>A (p.Thr867Asn) | |
| 8 | g.54626461C>G | CA370994156 | RP1 | c.2579C>G (p.Thr860Ser) c.787+4173C>G (n.787+4173C>G) c.2600C>G (p.Thr867Ser) | |
| 8 | g.54626461C>T | CA370994157 | RP1 | c.2579C>T (p.Thr860Ile) c.787+4173C>T (n.787+4173C>T) c.2600C>T (p.Thr867Ile) | gnomAD v4 |
| 8 | g.54626462T>A | CA461098970 | RP1 | c.2580T>A (p.Thr860=) c.787+4174T>A (n.787+4174T>A) c.2601T>A (p.Thr867=) | |
| 8 | g.54626462T>C | CA461098971 | RP1 | c.2580T>C (p.Thr860=) c.787+4174T>C (n.787+4174T>C) c.2601T>C (p.Thr867=) | gnomAD v4 |
| 8 | g.54626462T>G | CA461098972 | RP1 | c.2580T>G (p.Thr860=) c.787+4174T>G (n.787+4174T>G) c.2601T>G (p.Thr867=) | |
| 8 | g.54626463G>A | CA370994160 | RP1 | c.2581G>A (p.Asp861Asn) c.787+4175G>A (n.787+4175G>A) c.2602G>A (p.Asp868Asn) | |
| 8 | g.54626463G>C | CA370994159 | RP1 | c.2581G>C (p.Asp861His) c.787+4175G>C (n.787+4175G>C) c.2602G>C (p.Asp868His) | |
| 8 | g.54626463G>T | CA370994158 | RP1 | c.2581G>T (p.Asp861Tyr) c.787+4175G>T (n.787+4175G>T) c.2602G>T (p.Asp868Tyr) | |
| 8 | g.54626464A= | CA1785188331 | RP1 | c.2582A= (p.Asp861=) c.787+4176A= (n.787+4176A=) c.2603A= (p.Asp868=) | |
| 8 | g.54626464A>C | CA370994161 | RP1 | c.2582A>C (p.Asp861Ala) c.787+4176A>C (n.787+4176A>C) c.2603A>C (p.Asp868Ala) | |
| 8 | g.54626464A>G | CA4751561 | RP1 | c.2582A>G (p.Asp861Gly) c.787+4176A>G (n.787+4176A>G) c.2603A>G (p.Asp868Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626464A>T | CA370994162 | RP1 | c.2582A>T (p.Asp861Val) c.787+4176A>T (n.787+4176A>T) c.2603A>T (p.Asp868Val) | |
| 8 | g.54626465T>A | CA370994163 | RP1 | c.2583T>A (p.Asp861Glu) c.787+4177T>A (n.787+4177T>A) c.2604T>A (p.Asp868Glu) | |
| 8 | g.54626465T>C | CA461098973 | RP1 | c.2583T>C (p.Asp861=) c.787+4177T>C (n.787+4177T>C) c.2604T>C (p.Asp868=) | gnomAD v4 |
| 8 | g.54626465T>G | CA370994164 | RP1 | c.2583T>G (p.Asp861Glu) c.787+4177T>G (n.787+4177T>G) c.2604T>G (p.Asp868Glu) | |
| 8 | g.54626466T>A | CA370994165 | RP1 | c.2584T>A (p.Ser862Thr) c.787+4178T>A (n.787+4178T>A) c.2605T>A (p.Ser869Thr) | |
| 8 | g.54626466T>C | CA370994166 | RP1 | c.2584T>C (p.Ser862Pro) c.787+4178T>C (n.787+4178T>C) c.2605T>C (p.Ser869Pro) | |
| 8 | g.54626466T>G | CA370994167 | RP1 | c.2584T>G (p.Ser862Ala) c.787+4178T>G (n.787+4178T>G) c.2605T>G (p.Ser869Ala) | |
| 8 | g.54626467C>A | CA370994168 | RP1 | c.2585C>A (p.Ser862Ter) c.787+4179C>A (n.787+4179C>A) c.2606C>A (p.Ser869Ter) | |
| 8 | g.54626467C= | CA1785188332 | RP1 | c.2585C= (p.Ser862=) c.787+4179C= (n.787+4179C=) c.2606C= (p.Ser869=) | |
| 8 | g.54626467C>G | CA370994169 | RP1 | c.2585C>G (p.Ser862Ter) c.787+4179C>G (n.787+4179C>G) c.2606C>G (p.Ser869Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626467C>T | CA370994170 | RP1 | c.2585C>T (p.Ser862Leu) c.787+4179C>T (n.787+4179C>T) c.2606C>T (p.Ser869Leu) | gnomAD v4 |
| 8 | g.54626471_54626472del | CA2695209289 | RP1 | c.2589_2590del (p.Ile864AsnfsTer9) c.787+4183_787+4184del (n.787+4183_787+4184del) c.2610_2611del (p.Ile871AsnfsTer9) | |
| 8 | g.54626468A>C | CA461098976 | RP1 | c.2586A>C (p.Ser862=) c.787+4180A>C (n.787+4180A>C) c.2607A>C (p.Ser869=) | |
| 8 | g.54626468A>G | CA461098975 | RP1 | c.2586A>G (p.Ser862=) c.787+4180A>G (n.787+4180A>G) c.2607A>G (p.Ser869=) | |
| 8 | g.54626468A>T | CA461098974 | RP1 | c.2586A>T (p.Ser862=) c.787+4180A>T (n.787+4180A>T) c.2607A>T (p.Ser869=) | |
| 8 | g.54626469C>A | CA370994171 | RP1 | c.2587C>A (p.His863Asn) c.787+4181C>A (n.787+4181C>A) c.2608C>A (p.His870Asn) | |
| 8 | g.54626469C= | CA1785188333 | RP1 | c.2587C= (p.His863=) c.787+4181C= (n.787+4181C=) c.2608C= (p.His870=) | |
| 8 | g.54626469C>G | CA370994172 | RP1 | c.2587C>G (p.His863Asp) c.787+4181C>G (n.787+4181C>G) c.2608C>G (p.His870Asp) | |
| 8 | g.54626469C>T | CA370994173 | RP1 | c.2587C>T (p.His863Tyr) c.787+4181C>T (n.787+4181C>T) c.2608C>T (p.His870Tyr) | dbSNP gnomAD v4 |
| 8 | g.54626470A= | CA1785188334 | RP1 | c.2588A= (p.His863=) c.787+4182A= (n.787+4182A=) c.2609A= (p.His870=) | |
| 8 | g.54626470A>C | CA370994176 | RP1 | c.2588A>C (p.His863Pro) c.787+4182A>C (n.787+4182A>C) c.2609A>C (p.His870Pro) | |
| 8 | g.54626470A>G | CA370994175 | RP1 | c.2588A>G (p.His863Arg) c.787+4182A>G (n.787+4182A>G) c.2609A>G (p.His870Arg) | |
| 8 | g.54626470A>T | CA370994174 | RP1 | c.2588A>T (p.His863Leu) c.787+4182A>T (n.787+4182A>T) c.2609A>T (p.His870Leu) | dbSNP gnomAD v4 |
| 8 | g.54626471C>A | CA370994177 | RP1 | c.2589C>A (p.His863Gln) c.787+4183C>A (n.787+4183C>A) c.2610C>A (p.His870Gln) | |
| 8 | g.54626471C>G | CA370994178 | RP1 | c.2589C>G (p.His863Gln) c.787+4183C>G (n.787+4183C>G) c.2610C>G (p.His870Gln) | |
| 8 | g.54626471C>T | CA461098977 | RP1 | c.2589C>T (p.His863=) c.787+4183C>T (n.787+4183C>T) c.2610C>T (p.His870=) | gnomAD v4 |
| 8 | g.54626472A= | CA1785188335 | RP1 | c.2590A= (p.Ile864=) c.787+4184A= (n.787+4184A=) c.2611A= (p.Ile871=) | |
| 8 | g.54626472A>C | CA370994179 | RP1 | c.2590A>C (p.Ile864Leu) c.787+4184A>C (n.787+4184A>C) c.2611A>C (p.Ile871Leu) | |
| 8 | g.54626472A>G | CA370994180 | RP1 | c.2590A>G (p.Ile864Val) c.787+4184A>G (n.787+4184A>G) c.2611A>G (p.Ile871Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626472A>T | CA370994181 | RP1 | c.2590A>T (p.Ile864Leu) c.787+4184A>T (n.787+4184A>T) c.2611A>T (p.Ile871Leu) | gnomAD v4 |
| 8 | g.54626473_54626474del | CA2580078396 | RP1 | c.2591_2592del (p.Ile864AsnfsTer9) c.787+4185_787+4186del (n.787+4185_787+4186del) c.2612_2613del (p.Ile871AsnfsTer9) | ClinVar |
| 8 | g.54626473_54626482del | CA2687301838 | RP1 | c.2591_2600del (p.Ile864LysfsTer11) c.787+4185_787+4194del (n.787+4185_787+4194del) c.2612_2621del (p.Ile871LysfsTer11) | ClinVar gnomAD v4 |
| 8 | g.54626473T>A | CA370994182 | RP1 | c.2591T>A (p.Ile864Lys) c.787+4185T>A (n.787+4185T>A) c.2612T>A (p.Ile871Lys) | |
| 8 | g.54626473T>C | CA370994183 | RP1 | c.2591T>C (p.Ile864Thr) c.787+4185T>C (n.787+4185T>C) c.2612T>C (p.Ile871Thr) | dbSNP gnomAD v4 |
| 8 | g.54626473T>G | CA370994184 | RP1 | c.2591T>G (p.Ile864Arg) c.787+4185T>G (n.787+4185T>G) c.2612T>G (p.Ile871Arg) | |
| 8 | g.54626473T= | CA1785188336 | RP1 | c.2591T= (p.Ile864=) c.787+4185T= (n.787+4185T=) c.2612T= (p.Ile871=) | |
| 8 | g.54626474_54626478del | CA2695209290 | RP1 | c.2592_2596del (p.Thr865LysfsTer7) c.787+4186_787+4190del (n.787+4186_787+4190del) c.2613_2617del (p.Thr872LysfsTer7) | ClinVar |
| 8 | g.54626474A= | CA1785188337 | RP1 | c.2592A= (p.Ile864=) c.787+4186A= (n.787+4186A=) c.2613A= (p.Ile871=) | |
| 8 | g.54626474A>C | CA461098978 | RP1 | c.2592A>C (p.Ile864=) c.787+4186A>C (n.787+4186A>C) c.2613A>C (p.Ile871=) | |
| 8 | g.54626474A>G | CA370994185 | RP1 | c.2592A>G (p.Ile864Met) c.787+4186A>G (n.787+4186A>G) c.2613A>G (p.Ile871Met) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626474A>T | CA461098979 | RP1 | c.2592A>T (p.Ile864=) c.787+4186A>T (n.787+4186A>T) c.2613A>T (p.Ile871=) | COSMIC |
| 8 | g.54626475A>C | CA370994186 | RP1 | c.2593A>C (p.Thr865Pro) c.787+4187A>C (n.787+4187A>C) c.2614A>C (p.Thr872Pro) | |
| 8 | g.54626475A>G | CA370994187 | RP1 | c.2593A>G (p.Thr865Ala) c.787+4187A>G (n.787+4187A>G) c.2614A>G (p.Thr872Ala) | COSMIC |
| 8 | g.54626475A>T | CA370994188 | RP1 | c.2593A>T (p.Thr865Ser) c.787+4187A>T (n.787+4187A>T) c.2614A>T (p.Thr872Ser) | ClinVar dbSNP |
| 8 | g.54626476C>A | CA370994191 | RP1 | c.2594C>A (p.Thr865Asn) c.787+4188C>A (n.787+4188C>A) c.2615C>A (p.Thr872Asn) | |
| 8 | g.54626476C>G | CA370994190 | RP1 | c.2594C>G (p.Thr865Ser) c.787+4188C>G (n.787+4188C>G) c.2615C>G (p.Thr872Ser) | |
| 8 | g.54626476C>T | CA370994189 | RP1 | c.2594C>T (p.Thr865Ile) c.787+4188C>T (n.787+4188C>T) c.2615C>T (p.Thr872Ile) | |
| 8 | g.54626476_54626478del | CA2695209291 | RP1 | c.2594_2596del (p.Thr865_Leu866delinsIle) c.787+4188_787+4190del (n.787+4188_787+4190del) c.2615_2617del (p.Thr872_Leu873delinsIle) | |
| 8 | g.54626476_54626478delinsCTT | CA1785188338 | RP1 | c.2594_2596delinsCTT (p.Thr865=) c.787+4188_787+4190delinsCTT (n.787+4188_787+4190delinsCTT) c.2615_2617delinsCTT (p.Thr872=) | |
| 8 | g.54626477T>A | CA461098980 | RP1 | c.2595T>A (p.Thr865=) c.787+4189T>A (n.787+4189T>A) c.2616T>A (p.Thr872=) | |
| 8 | g.54626477T>C | CA461098981 | RP1 | c.2595T>C (p.Thr865=) c.787+4189T>C (n.787+4189T>C) c.2616T>C (p.Thr872=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626477T>G | CA461098982 | RP1 | c.2595T>G (p.Thr865=) c.787+4189T>G (n.787+4189T>G) c.2616T>G (p.Thr872=) | |
| 8 | g.54626477T= | CA1785188339 | RP1 | c.2595T= (p.Thr865=) c.787+4189T= (n.787+4189T=) c.2616T= (p.Thr872=) | |
| 8 | g.54626479del | CA2695209292 | RP1 | c.2597del (p.Leu866Ter) c.787+4191del (n.787+4191del) c.2618del (p.Leu873Ter) | ClinVar |
| 8 | g.54626478_54626479del | CA645509469 | RP1 | c.2596_2597del (p.Leu866LysfsTer7) c.787+4190_787+4191del (n.787+4190_787+4191del) c.2617_2618del (p.Leu873LysfsTer7) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626478T>A | CA370994192 | RP1 | c.2596T>A (p.Leu866Ile) c.787+4190T>A (n.787+4190T>A) c.2617T>A (p.Leu873Ile) | |
| 8 | g.54626478T>C | CA461098983 | RP1 | c.2596T>C (p.Leu866=) c.787+4190T>C (n.787+4190T>C) c.2617T>C (p.Leu873=) | |
| 8 | g.54626478T>G | CA4751562 | RP1 | c.2596T>G (p.Leu866Val) c.787+4190T>G (n.787+4190T>G) c.2617T>G (p.Leu873Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626478T= | CA1785188340 | RP1 | c.2596T= (p.Leu866=) c.787+4190T= (n.787+4190T=) c.2617T= (p.Leu873=) | |
| 8 | g.54626479T>A | CA370994193 | RP1 | c.2597T>A (p.Leu866Ter) c.787+4191T>A (n.787+4191T>A) c.2618T>A (p.Leu873Ter) | |
| 8 | g.54626479T>C | CA370994194 | RP1 | c.2597T>C (p.Leu866Ser) c.787+4191T>C (n.787+4191T>C) c.2618T>C (p.Leu873Ser) | |
| 8 | g.54626479T>G | CA370994195 | RP1 | c.2597T>G (p.Leu866Ter) c.787+4191T>G (n.787+4191T>G) c.2618T>G (p.Leu873Ter) | |
| 8 | g.54626480A= | CA1785188341 | RP1 | c.2598A= (p.Leu866=) c.787+4192A= (n.787+4192A=) c.2619A= (p.Leu873=) | |
| 8 | g.54626480A>C | CA370994196 | RP1 | c.2598A>C (p.Leu866Phe) c.787+4192A>C (n.787+4192A>C) c.2619A>C (p.Leu873Phe) | |
| 8 | g.54626480A>G | CA461098984 | RP1 | c.2598A>G (p.Leu866=) c.787+4192A>G (n.787+4192A>G) c.2619A>G (p.Leu873=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626480A>T | CA370994197 | RP1 | c.2598A>T (p.Leu866Phe) c.787+4192A>T (n.787+4192A>T) c.2619A>T (p.Leu873Phe) | |
| 8 | g.54626481A>C | CA370994198 | RP1 | c.2599A>C (p.Lys867Gln) c.787+4193A>C (n.787+4193A>C) c.2620A>C (p.Lys874Gln) | ClinVar |
| 8 | g.54626481A>G | CA370994199 | RP1 | c.2599A>G (p.Lys867Glu) c.787+4193A>G (n.787+4193A>G) c.2620A>G (p.Lys874Glu) | |
| 8 | g.54626481A>T | CA370994200 | RP1 | c.2599A>T (p.Lys867Ter) c.787+4193A>T (n.787+4193A>T) c.2620A>T (p.Lys874Ter) | ClinVar |
| 8 | g.54626482A>C | CA370994201 | RP1 | c.2600A>C (p.Lys867Thr) c.787+4194A>C (n.787+4194A>C) c.2621A>C (p.Lys874Thr) | |
| 8 | g.54626482A>G | CA370994202 | RP1 | c.2600A>G (p.Lys867Arg) c.787+4194A>G (n.787+4194A>G) c.2621A>G (p.Lys874Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626482A>T | CA370994203 | RP1 | c.2600A>T (p.Lys867Ile) c.787+4194A>T (n.787+4194A>T) c.2621A>T (p.Lys874Ile) | |
| 8 | g.54626483A>C | CA370994205 | RP1 | c.2601A>C (p.Lys867Asn) c.787+4195A>C (n.787+4195A>C) c.2622A>C (p.Lys874Asn) | |
| 8 | g.54626483A>G | CA461098985 | RP1 | c.2601A>G (p.Lys867=) c.787+4195A>G (n.787+4195A>G) c.2622A>G (p.Lys874=) | |
| 8 | g.54626483A>T | CA370994204 | RP1 | c.2601A>T (p.Lys867Asn) c.787+4195A>T (n.787+4195A>T) c.2622A>T (p.Lys874Asn) | |
| 8 | g.54626484A>C | CA370994206 | RP1 | c.2602A>C (p.Ser868Arg) c.787+4196A>C (n.787+4196A>C) c.2623A>C (p.Ser875Arg) | |
| 8 | g.54626484A>G | CA370994207 | RP1 | c.2602A>G (p.Ser868Gly) c.787+4196A>G (n.787+4196A>G) c.2623A>G (p.Ser875Gly) | |
| 8 | g.54626484A>T | CA370994208 | RP1 | c.2602A>T (p.Ser868Cys) c.787+4196A>T (n.787+4196A>T) c.2623A>T (p.Ser875Cys) | |
| 8 | g.54626485G>A | CA370994209 | RP1 | c.2603G>A (p.Ser868Asn) c.787+4197G>A (n.787+4197G>A) c.2624G>A (p.Ser875Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626485G>C | CA370994210 | RP1 | c.2603G>C (p.Ser868Thr) c.787+4197G>C (n.787+4197G>C) c.2624G>C (p.Ser875Thr) | |
| 8 | g.54626485G= | CA1785188342 | RP1 | c.2603G= (p.Ser868=) c.787+4197G= (n.787+4197G=) c.2624G= (p.Ser875=) | |
| 8 | g.54626485G>T | CA370994211 | RP1 | c.2603G>T (p.Ser868Ile) c.787+4197G>T (n.787+4197G>T) c.2624G>T (p.Ser875Ile) | |
| 8 | g.54626486C>A | CA370994212 | RP1 | c.2604C>A (p.Ser868Arg) c.787+4198C>A (n.787+4198C>A) c.2625C>A (p.Ser875Arg) | |
| 8 | g.54626486C= | CA1785188343 | RP1 | c.2604C= (p.Ser868=) c.787+4198C= (n.787+4198C=) c.2625C= (p.Ser875=) | |
| 8 | g.54626486C>G | CA370994213 | RP1 | c.2604C>G (p.Ser868Arg) c.787+4198C>G (n.787+4198C>G) c.2625C>G (p.Ser875Arg) | |
| 8 | g.54626486C>T | CA4751563 | RP1 | c.2604C>T (p.Ser868=) c.787+4198C>T (n.787+4198C>T) c.2625C>T (p.Ser875=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626487C>A | CA370994214 | RP1 | c.2605C>A (p.Gln869Lys) c.787+4199C>A (n.787+4199C>A) c.2626C>A (p.Gln876Lys) | |
| 8 | g.54626487C>G | CA370994215 | RP1 | c.2605C>G (p.Gln869Glu) c.787+4199C>G (n.787+4199C>G) c.2626C>G (p.Gln876Glu) | |
| 8 | g.54626487C>T | CA370994216 | RP1 | c.2605C>T (p.Gln869Ter) c.787+4199C>T (n.787+4199C>T) c.2626C>T (p.Gln876Ter) | |
| 8 | g.54626488_54626489insACCAAACACACCCAACACA | CA2780387019 | RP1 | c.2606_2607insACCAAACACACCCAACACA (p.Lys870ProfsTer10) c.787+4200_787+4201insACCAAACACACCCAACACA (n.787+4200_787+4201insACCAAACACACCCAACACA) c.2627_2628insACCAAACACACCCAACACA (p.Lys877ProfsTer10) | |
| 8 | g.54626488A>C | CA370994219 | RP1 | c.2606A>C (p.Gln869Pro) c.787+4200A>C (n.787+4200A>C) c.2627A>C (p.Gln876Pro) | |
| 8 | g.54626488A>G | CA370994218 | RP1 | c.2606A>G (p.Gln869Arg) c.787+4200A>G (n.787+4200A>G) c.2627A>G (p.Gln876Arg) | |
| 8 | g.54626488A>T | CA370994217 | RP1 | c.2606A>T (p.Gln869Leu) c.787+4200A>T (n.787+4200A>T) c.2627A>T (p.Gln876Leu) | |
| 8 | g.54626489del | CA2573143224 | RP1 | c.2607del (p.Lys871AsnfsTer7) c.787+4201del (n.787+4201del) c.2628del (p.Lys878AsnfsTer7) | ClinVar dbSNP |
| 8 | g.54626489G>A | CA461098986 | RP1 | c.2607G>A (p.Gln869=) c.787+4201G>A (n.787+4201G>A) c.2628G>A (p.Gln876=) | |
| 8 | g.54626489G>C | CA370994220 | RP1 | c.2607G>C (p.Gln869His) c.787+4201G>C (n.787+4201G>C) c.2628G>C (p.Gln876His) | |
| 8 | g.54626489G= | CA1785188344 | RP1 | c.2607G= (p.Gln869=) c.787+4201G= (n.787+4201G=) c.2628G= (p.Gln876=) | |
| 8 | g.54626489G>T | CA370994221 | RP1 | c.2607G>T (p.Gln869His) c.787+4201G>T (n.787+4201G>T) c.2628G>T (p.Gln876His) | |
| 8 | g.54626489dup | CA2695209293 | RP1 | c.2607dup (p.Lys870GlufsTer4) c.787+4201dup (n.787+4201dup) c.2628dup (p.Lys877GlufsTer4) | |
| 8 | g.54626490A>C | CA370994222 | RP1 | c.2608A>C (p.Lys870Gln) c.787+4202A>C (n.787+4202A>C) c.2629A>C (p.Lys877Gln) | ClinVar gnomAD v4 |
| 8 | g.54626490A>G | CA370994223 | RP1 | c.2608A>G (p.Lys870Glu) c.787+4202A>G (n.787+4202A>G) c.2629A>G (p.Lys877Glu) | |
| 8 | g.54626490A>T | CA370994224 | RP1 | c.2608A>T (p.Lys870Ter) c.787+4202A>T (n.787+4202A>T) c.2629A>T (p.Lys877Ter) | |
| 8 | g.54626495dup | CA461098987 | RP1 | c.2613dup (p.Arg872ThrfsTer2) c.787+4207dup (n.787+4207dup) c.2634dup (p.Arg879ThrfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626491A>C | CA370994225 | RP1 | c.2609A>C (p.Lys870Thr) c.787+4203A>C (n.787+4203A>C) c.2630A>C (p.Lys877Thr) | |
| 8 | g.54626491A>G | CA370994226 | RP1 | c.2609A>G (p.Lys870Arg) c.787+4203A>G (n.787+4203A>G) c.2630A>G (p.Lys877Arg) | |
| 8 | g.54626491A>T | CA370994227 | RP1 | c.2609A>T (p.Lys870Ile) c.787+4203A>T (n.787+4203A>T) c.2630A>T (p.Lys877Ile) | |
| 8 | g.54626492A>C | CA370994228 | RP1 | c.2610A>C (p.Lys870Asn) c.787+4204A>C (n.787+4204A>C) c.2631A>C (p.Lys877Asn) | |
| 8 | g.54626492A>G | CA461098988 | RP1 | c.2610A>G (p.Lys870=) c.787+4204A>G (n.787+4204A>G) c.2631A>G (p.Lys877=) | |
| 8 | g.54626492A>T | CA370994229 | RP1 | c.2610A>T (p.Lys870Asn) c.787+4204A>T (n.787+4204A>T) c.2631A>T (p.Lys877Asn) | |
| 8 | g.54626493A>C | CA370994230 | RP1 | c.2611A>C (p.Lys871Gln) c.787+4205A>C (n.787+4205A>C) c.2632A>C (p.Lys878Gln) | |
| 8 | g.54626493A>G | CA370994231 | RP1 | c.2611A>G (p.Lys871Glu) c.787+4205A>G (n.787+4205A>G) c.2632A>G (p.Lys878Glu) | |
| 8 | g.54626493A>T | CA370994232 | RP1 | c.2611A>T (p.Lys871Ter) c.787+4205A>T (n.787+4205A>T) c.2632A>T (p.Lys878Ter) | |
| 8 | g.54626494A>C | CA370994233 | RP1 | c.2612A>C (p.Lys871Thr) c.787+4206A>C (n.787+4206A>C) c.2633A>C (p.Lys878Thr) | COSMIC |
| 8 | g.54626494A>G | CA370994234 | RP1 | c.2612A>G (p.Lys871Arg) c.787+4206A>G (n.787+4206A>G) c.2633A>G (p.Lys878Arg) | |
| 8 | g.54626494A>T | CA370994235 | RP1 | c.2612A>T (p.Lys871Ile) c.787+4206A>T (n.787+4206A>T) c.2633A>T (p.Lys878Ile) | |
| 8 | g.54626495A= | CA1785188345 | RP1 | c.2613A= (p.Lys871=) c.787+4207A= (n.787+4207A=) c.2634A= (p.Lys878=) | |
| 8 | g.54626495A>C | CA370994236 | RP1 | c.2613A>C (p.Lys871Asn) c.787+4207A>C (n.787+4207A>C) c.2634A>C (p.Lys878Asn) | gnomAD v4 |
| 8 | g.54626495A>G | CA461098989 | RP1 | c.2613A>G (p.Lys871=) c.787+4207A>G (n.787+4207A>G) c.2634A>G (p.Lys878=) | COSMIC |
| 8 | g.54626495A>T | CA4751564 | RP1 | c.2613A>T (p.Lys871Asn) c.787+4207A>T (n.787+4207A>T) c.2634A>T (p.Lys878Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626496C>A | CA370994237 | RP1 | c.2614C>A (p.Arg872Ser) c.787+4208C>A (n.787+4208C>A) c.2635C>A (p.Arg879Ser) | gnomAD v4 |
| 8 | g.54626496C= | CA1785188346 | RP1 | c.2614C= (p.Arg872=) c.787+4208C= (n.787+4208C=) c.2635C= (p.Arg879=) | |
| 8 | g.54626496C>G | CA370994238 | RP1 | c.2614C>G (p.Arg872Gly) c.787+4208C>G (n.787+4208C>G) c.2635C>G (p.Arg879Gly) | dbSNP gnomAD v2 |
| 8 | g.54626496C>T | CA177237246 | RP1 | c.2614C>T (p.Arg872Cys) c.787+4208C>T (n.787+4208C>T) c.2635C>T (p.Arg879Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626497G>A | CA180400 | RP1 | c.2615G>A (p.Arg872His) c.787+4209G>A (n.787+4209G>A) c.2636G>A (p.Arg879His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626497G>C | CA370994239 | RP1 | c.2615G>C (p.Arg872Pro) c.787+4209G>C (n.787+4209G>C) c.2636G>C (p.Arg879Pro) | |
| 8 | g.54626497G= | CA1785188348 | RP1 | c.2615G= (p.Arg872=) c.787+4209G= (n.787+4209G=) c.2636G= (p.Arg879=) | |
| 8 | g.54626497G>T | CA370994240 | RP1 | c.2615G>T (p.Arg872Leu) c.787+4209G>T (n.787+4209G>T) c.2636G>T (p.Arg879Leu) | gnomAD v4 |
| 8 | g.54626497_54626505dup | CA1785188347 | RP1 | c.2615_2623dup (p.Gly874_Asp875insGlyLysGly) c.787+4209_787+4217dup (n.787+4209_787+4217dup) c.2636_2644dup (p.Gly881_Asp882insGlyLysGly) | dbSNP |