| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54626242T>A | CA370993552 | RP1 | c.2360T>A (p.Leu787Ter) c.787+3954T>A (n.787+3954T>A) c.2381T>A (p.Leu794Ter) | ClinVar dbSNP |
| 8 | g.54626242T>C | CA370993554 | RP1 | c.2360T>C (p.Leu787Ser) c.787+3954T>C (n.787+3954T>C) c.2381T>C (p.Leu794Ser) | |
| 8 | g.54626242T>G | CA370993556 | RP1 | c.2360T>G (p.Leu787Ter) c.787+3954T>G (n.787+3954T>G) c.2381T>G (p.Leu794Ter) | |
| 8 | g.54626242T= | CA1785188226 | RP1 | c.2360T= (p.Leu787=) c.787+3954T= (n.787+3954T=) c.2381T= (p.Leu794=) | |
| 8 | g.54626243A>C | CA370993559 | RP1 | c.2361A>C (p.Leu787Phe) c.787+3955A>C (n.787+3955A>C) c.2382A>C (p.Leu794Phe) | |
| 8 | g.54626243A>G | CA461098671 | RP1 | c.2361A>G (p.Leu787=) c.787+3955A>G (n.787+3955A>G) c.2382A>G (p.Leu794=) | gnomAD v4 |
| 8 | g.54626243A>T | CA370993561 | RP1 | c.2361A>T (p.Leu787Phe) c.787+3955A>T (n.787+3955A>T) c.2382A>T (p.Leu794Phe) | |
| 8 | g.54626244G>A | CA4751513 | RP1 | c.2362G>A (p.Gly788Arg) c.787+3956G>A (n.787+3956G>A) c.2383G>A (p.Gly795Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626244G>C | CA370993565 | RP1 | c.2362G>C (p.Gly788Arg) c.787+3956G>C (n.787+3956G>C) c.2383G>C (p.Gly795Arg) | |
| 8 | g.54626244G= | CA1785188227 | RP1 | c.2362G= (p.Gly788=) c.787+3956G= (n.787+3956G=) c.2383G= (p.Gly795=) | |
| 8 | g.54626244G>T | CA370993563 | RP1 | c.2362G>T (p.Gly788Ter) c.787+3956G>T (n.787+3956G>T) c.2383G>T (p.Gly795Ter) | |
| 8 | g.54626245G>A | CA4751515 | RP1 | c.2363G>A (p.Gly788Glu) c.787+3957G>A (n.787+3957G>A) c.2384G>A (p.Gly795Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626245G>C | CA370993568 | RP1 | c.2363G>C (p.Gly788Ala) c.787+3957G>C (n.787+3957G>C) c.2384G>C (p.Gly795Ala) | dbSNP |
| 8 | g.54626245G= | CA1785188228 | RP1 | c.2363G= (p.Gly788=) c.787+3957G= (n.787+3957G=) c.2384G= (p.Gly795=) | |
| 8 | g.54626245G>T | CA4751514 | RP1 | c.2363G>T (p.Gly788Val) c.787+3957G>T (n.787+3957G>T) c.2384G>T (p.Gly795Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626246A= | CA1785188229 | RP1 | c.2364A= (p.Gly788=) c.787+3958A= (n.787+3958A=) c.2385A= (p.Gly795=) | |
| 8 | g.54626246A>C | CA461098676 | RP1 | c.2364A>C (p.Gly788=) c.787+3958A>C (n.787+3958A>C) c.2385A>C (p.Gly795=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626246A>G | CA4751516 | RP1 | c.2364A>G (p.Gly788=) c.787+3958A>G (n.787+3958A>G) c.2385A>G (p.Gly795=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626246A>T | CA461098677 | RP1 | c.2364A>T (p.Gly788=) c.787+3958A>T (n.787+3958A>T) c.2385A>T (p.Gly795=) | |
| 8 | g.54626246_54626247insCTG | CA2780387016 | RP1 | c.2364_2365insCTG (p.Gly788_Ala789insLeu) c.787+3958_787+3959insCTG (n.787+3958_787+3959insCTG) c.2385_2386insCTG (p.Gly795_Ala796insLeu) | |
| 8 | g.54626247G>A | CA370993572 | RP1 | c.2365G>A (p.Ala789Thr) c.787+3959G>A (n.787+3959G>A) c.2386G>A (p.Ala796Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626247G>C | CA370993574 | RP1 | c.2365G>C (p.Ala789Pro) c.787+3959G>C (n.787+3959G>C) c.2386G>C (p.Ala796Pro) | |
| 8 | g.54626247G= | CA1785188230 | RP1 | c.2365G= (p.Ala789=) c.787+3959G= (n.787+3959G=) c.2386G= (p.Ala796=) | |
| 8 | g.54626247G>T | CA370993575 | RP1 | c.2365G>T (p.Ala789Ser) c.787+3959G>T (n.787+3959G>T) c.2386G>T (p.Ala796Ser) | |
| 8 | g.54626248C>A | CA370993578 | RP1 | c.2366C>A (p.Ala789Glu) c.787+3960C>A (n.787+3960C>A) c.2387C>A (p.Ala796Glu) | |
| 8 | g.54626248C= | CA1785188231 | RP1 | c.2366C= (p.Ala789=) c.787+3960C= (n.787+3960C=) c.2387C= (p.Ala796=) | |
| 8 | g.54626248C>G | CA370993580 | RP1 | c.2366C>G (p.Ala789Gly) c.787+3960C>G (n.787+3960C>G) c.2387C>G (p.Ala796Gly) | |
| 8 | g.54626248C>T | CA370993581 | RP1 | c.2366C>T (p.Ala789Val) c.787+3960C>T (n.787+3960C>T) c.2387C>T (p.Ala796Val) | dbSNP gnomAD v4 |
| 8 | g.54626249A= | CA1785188232 | RP1 | c.2367A= (p.Ala789=) c.787+3961A= (n.787+3961A=) c.2388A= (p.Ala796=) | |
| 8 | g.54626249A>C | CA461098681 | RP1 | c.2367A>C (p.Ala789=) c.787+3961A>C (n.787+3961A>C) c.2388A>C (p.Ala796=) | |
| 8 | g.54626249A>G | CA461098684 | RP1 | c.2367A>G (p.Ala789=) c.787+3961A>G (n.787+3961A>G) c.2388A>G (p.Ala796=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626249A>T | CA461098682 | RP1 | c.2367A>T (p.Ala789=) c.787+3961A>T (n.787+3961A>T) c.2388A>T (p.Ala796=) | |
| 8 | g.54626250C>A | CA370993584 | RP1 | c.2368C>A (p.Pro790Thr) c.787+3962C>A (n.787+3962C>A) c.2389C>A (p.Pro797Thr) | gnomAD v4 |
| 8 | g.54626250C>G | CA370993585 | RP1 | c.2368C>G (p.Pro790Ala) c.787+3962C>G (n.787+3962C>G) c.2389C>G (p.Pro797Ala) | |
| 8 | g.54626250C>T | CA370993587 | RP1 | c.2368C>T (p.Pro790Ser) c.787+3962C>T (n.787+3962C>T) c.2389C>T (p.Pro797Ser) | |
| 8 | g.54626251C>A | CA370993593 | RP1 | c.2369C>A (p.Pro790His) c.787+3963C>A (n.787+3963C>A) c.2390C>A (p.Pro797His) | |
| 8 | g.54626251C>G | CA370993590 | RP1 | c.2369C>G (p.Pro790Arg) c.787+3963C>G (n.787+3963C>G) c.2390C>G (p.Pro797Arg) | COSMIC |
| 8 | g.54626251C>T | CA370993591 | RP1 | c.2369C>T (p.Pro790Leu) c.787+3963C>T (n.787+3963C>T) c.2390C>T (p.Pro797Leu) | COSMIC |
| 8 | g.54626252T>A | CA461098688 | RP1 | c.2370T>A (p.Pro790=) c.787+3964T>A (n.787+3964T>A) c.2391T>A (p.Pro797=) | |
| 8 | g.54626252T>C | CA461098689 | RP1 | c.2370T>C (p.Pro790=) c.787+3964T>C (n.787+3964T>C) c.2391T>C (p.Pro797=) | |
| 8 | g.54626252T>G | CA461098690 | RP1 | c.2370T>G (p.Pro790=) c.787+3964T>G (n.787+3964T>G) c.2391T>G (p.Pro797=) | gnomAD v4 |
| 8 | g.54626252T= | CA1785188233 | RP1 | c.2370T= (p.Pro790=) c.787+3964T= (n.787+3964T=) c.2391T= (p.Pro797=) | |
| 8 | g.54626253A>C | CA370993594 | RP1 | c.2371A>C (p.Lys791Gln) c.787+3965A>C (n.787+3965A>C) c.2392A>C (p.Lys798Gln) | |
| 8 | g.54626253A>G | CA370993596 | RP1 | c.2371A>G (p.Lys791Glu) c.787+3965A>G (n.787+3965A>G) c.2392A>G (p.Lys798Glu) | gnomAD v4 |
| 8 | g.54626253A>T | CA370993598 | RP1 | c.2371A>T (p.Lys791Ter) c.787+3965A>T (n.787+3965A>T) c.2392A>T (p.Lys798Ter) | |
| 8 | g.54626259dup | CA853263226 | RP1 | c.2377dup (p.Arg793LysfsTer8) c.787+3971dup (n.787+3971dup) c.2398dup (p.Arg800LysfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626259del | CA461098695 | RP1 | c.2377del (p.Arg793GlufsTer?) c.787+3971del (n.787+3971del) c.2398del (p.Arg800GlufsTer?) | gnomAD v4 COSMIC |
| 8 | g.54626254A= | CA1785188234 | RP1 | c.2372A= (p.Lys791=) c.787+3966A= (n.787+3966A=) c.2393A= (p.Lys798=) | |
| 8 | g.54626254A>C | CA4751517 | RP1 | c.2372A>C (p.Lys791Thr) c.787+3966A>C (n.787+3966A>C) c.2393A>C (p.Lys798Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626254A>G | CA370993601 | RP1 | c.2372A>G (p.Lys791Arg) c.787+3966A>G (n.787+3966A>G) c.2393A>G (p.Lys798Arg) | |
| 8 | g.54626254A>T | CA370993603 | RP1 | c.2372A>T (p.Lys791Ile) c.787+3966A>T (n.787+3966A>T) c.2393A>T (p.Lys798Ile) | |
| 8 | g.54626258_54626316del | CA2780387017 | RP1 | c.2376_2434del (p.Arg793TyrfsTer3) c.787+3970_787+4028del (n.787+3970_787+4028del) c.2397_2455del (p.Arg800TyrfsTer3) | |
| 8 | g.54626255A>C | CA370993605 | RP1 | c.2373A>C (p.Lys791Asn) c.787+3967A>C (n.787+3967A>C) c.2394A>C (p.Lys798Asn) | |
| 8 | g.54626255A>G | CA461098699 | RP1 | c.2373A>G (p.Lys791=) c.787+3967A>G (n.787+3967A>G) c.2394A>G (p.Lys798=) | |
| 8 | g.54626255A>T | CA370993606 | RP1 | c.2373A>T (p.Lys791Asn) c.787+3967A>T (n.787+3967A>T) c.2394A>T (p.Lys798Asn) | |
| 8 | g.54626256A= | CA1785188235 | RP1 | c.2374A= (p.Lys792=) c.787+3968A= (n.787+3968A=) c.2395A= (p.Lys799=) | |
| 8 | g.54626256A>C | CA370993608 | RP1 | c.2374A>C (p.Lys792Gln) c.787+3968A>C (n.787+3968A>C) c.2395A>C (p.Lys799Gln) | |
| 8 | g.54626256A>G | CA370993610 | RP1 | c.2374A>G (p.Lys792Glu) c.787+3968A>G (n.787+3968A>G) c.2395A>G (p.Lys799Glu) | |
| 8 | g.54626256A>T | CA370993612 | RP1 | c.2374A>T (p.Lys792Ter) c.787+3968A>T (n.787+3968A>T) c.2395A>T (p.Lys799Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626257A>C | CA370993618 | RP1 | c.2375A>C (p.Lys792Thr) c.787+3969A>C (n.787+3969A>C) c.2396A>C (p.Lys799Thr) | |
| 8 | g.54626257A>G | CA370993616 | RP1 | c.2375A>G (p.Lys792Arg) c.787+3969A>G (n.787+3969A>G) c.2396A>G (p.Lys799Arg) | |
| 8 | g.54626257A>T | CA370993614 | RP1 | c.2375A>T (p.Lys792Ile) c.787+3969A>T (n.787+3969A>T) c.2396A>T (p.Lys799Ile) | |
| 8 | g.54626258A>C | CA370993620 | RP1 | c.2376A>C (p.Lys792Asn) c.787+3970A>C (n.787+3970A>C) c.2397A>C (p.Lys799Asn) | |
| 8 | g.54626258A>G | CA461098704 | RP1 | c.2376A>G (p.Lys792=) c.787+3970A>G (n.787+3970A>G) c.2397A>G (p.Lys799=) | |
| 8 | g.54626258A>T | CA370993621 | RP1 | c.2376A>T (p.Lys792Asn) c.787+3970A>T (n.787+3970A>T) c.2397A>T (p.Lys799Asn) | |
| 8 | g.54626259_54626261del | CA2687301831 | RP1 | c.2377_2379del (p.Arg793del) c.787+3971_787+3973del (n.787+3971_787+3973del) c.2398_2400del (p.Arg800del) | gnomAD v4 |
| 8 | g.54626259A= | CA1785188236 | RP1 | c.2377A= (p.Arg793=) c.787+3971A= (n.787+3971A=) c.2398A= (p.Arg800=) | |
| 8 | g.54626259A>C | CA461098705 | RP1 | c.2377A>C (p.Arg793=) c.787+3971A>C (n.787+3971A>C) c.2398A>C (p.Arg800=) | |
| 8 | g.54626259A>G | CA4751518 | RP1 | c.2377A>G (p.Arg793Gly) c.787+3971A>G (n.787+3971A>G) c.2398A>G (p.Arg800Gly) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.54626259A>T | CA370993624 | RP1 | c.2377A>T (p.Arg793Ter) c.787+3971A>T (n.787+3971A>T) c.2398A>T (p.Arg800Ter) | |
| 8 | g.54626260G>A | CA370993626 | RP1 | c.2378G>A (p.Arg793Lys) c.787+3972G>A (n.787+3972G>A) c.2399G>A (p.Arg800Lys) | ClinVar |
| 8 | g.54626260G>C | CA370993628 | RP1 | c.2378G>C (p.Arg793Thr) c.787+3972G>C (n.787+3972G>C) c.2399G>C (p.Arg800Thr) | |
| 8 | g.54626260G>T | CA370993630 | RP1 | c.2378G>T (p.Arg793Ile) c.787+3972G>T (n.787+3972G>T) c.2399G>T (p.Arg800Ile) | |
| 8 | g.54626261A>C | CA370993632 | RP1 | c.2379A>C (p.Arg793Ser) c.787+3973A>C (n.787+3973A>C) c.2400A>C (p.Arg800Ser) | |
| 8 | g.54626261A>G | CA461098708 | RP1 | c.2379A>G (p.Arg793=) c.787+3973A>G (n.787+3973A>G) c.2400A>G (p.Arg800=) | |
| 8 | g.54626261A>T | CA370993633 | RP1 | c.2379A>T (p.Arg793Ser) c.787+3973A>T (n.787+3973A>T) c.2400A>T (p.Arg800Ser) | |
| 8 | g.54626262G>A | CA4751519 | RP1 | c.2380G>A (p.Glu794Lys) c.787+3974G>A (n.787+3974G>A) c.2401G>A (p.Glu801Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626262G>C | CA370993637 | RP1 | c.2380G>C (p.Glu794Gln) c.787+3974G>C (n.787+3974G>C) c.2401G>C (p.Glu801Gln) | |
| 8 | g.54626262G= | CA1785188237 | RP1 | c.2380G= (p.Glu794=) c.787+3974G= (n.787+3974G=) c.2401G= (p.Glu801=) | |
| 8 | g.54626262G>T | CA370993638 | RP1 | c.2380G>T (p.Glu794Ter) c.787+3974G>T (n.787+3974G>T) c.2401G>T (p.Glu801Ter) | ClinVar |
| 8 | g.54626263A= | CA1785188238 | RP1 | c.2381A= (p.Glu794=) c.787+3975A= (n.787+3975A=) c.2402A= (p.Glu801=) | |
| 8 | g.54626263A>C | CA370993641 | RP1 | c.2381A>C (p.Glu794Ala) c.787+3975A>C (n.787+3975A>C) c.2402A>C (p.Glu801Ala) | |
| 8 | g.54626263A>G | CA177237140 | RP1 | c.2381A>G (p.Glu794Gly) c.787+3975A>G (n.787+3975A>G) c.2402A>G (p.Glu801Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626263A>T | CA370993643 | RP1 | c.2381A>T (p.Glu794Val) c.787+3975A>T (n.787+3975A>T) c.2402A>T (p.Glu801Val) | |
| 8 | g.54626264A>C | CA370993644 | RP1 | c.2382A>C (p.Glu794Asp) c.787+3976A>C (n.787+3976A>C) c.2403A>C (p.Glu801Asp) | |
| 8 | g.54626264A>G | CA461098714 | RP1 | c.2382A>G (p.Glu794=) c.787+3976A>G (n.787+3976A>G) c.2403A>G (p.Glu801=) | gnomAD v4 |
| 8 | g.54626264A>T | CA370993645 | RP1 | c.2382A>T (p.Glu794Asp) c.787+3976A>T (n.787+3976A>T) c.2403A>T (p.Glu801Asp) | |
| 8 | g.54626265A>C | CA370993647 | RP1 | c.2383A>C (p.Ile795Leu) c.787+3977A>C (n.787+3977A>C) c.2404A>C (p.Ile802Leu) | |
| 8 | g.54626265A>G | CA370993649 | RP1 | c.2383A>G (p.Ile795Val) c.787+3977A>G (n.787+3977A>G) c.2404A>G (p.Ile802Val) | dbSNP gnomAD v4 |
| 8 | g.54626265A>T | CA370993651 | RP1 | c.2383A>T (p.Ile795Phe) c.787+3977A>T (n.787+3977A>T) c.2404A>T (p.Ile802Phe) | gnomAD v4 |
| 8 | g.54626266T>A | CA370993654 | RP1 | c.2384T>A (p.Ile795Asn) c.787+3978T>A (n.787+3978T>A) c.2405T>A (p.Ile802Asn) | |
| 8 | g.54626266T>C | CA4751520 | RP1 | c.2384T>C (p.Ile795Thr) c.787+3978T>C (n.787+3978T>C) c.2405T>C (p.Ile802Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626266T>G | CA370993657 | RP1 | c.2384T>G (p.Ile795Ser) c.787+3978T>G (n.787+3978T>G) c.2405T>G (p.Ile802Ser) | |
| 8 | g.54626266T= | CA1785188239 | RP1 | c.2384T= (p.Ile795=) c.787+3978T= (n.787+3978T=) c.2405T= (p.Ile802=) | |
| 8 | g.54626267C>A | CA461098721 | RP1 | c.2385C>A (p.Ile795=) c.787+3979C>A (n.787+3979C>A) c.2406C>A (p.Ile802=) | |
| 8 | g.54626267C= | CA1785188240 | RP1 | c.2385C= (p.Ile795=) c.787+3979C= (n.787+3979C=) c.2406C= (p.Ile802=) | |
| 8 | g.54626267C>G | CA370993659 | RP1 | c.2385C>G (p.Ile795Met) c.787+3979C>G (n.787+3979C>G) c.2406C>G (p.Ile802Met) | |
| 8 | g.54626267C>T | CA4751521 | RP1 | c.2385C>T (p.Ile795=) c.787+3979C>T (n.787+3979C>T) c.2406C>T (p.Ile802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626268G>A | CA4751522 | RP1 | c.2386G>A (p.Gly796Ser) c.787+3980G>A (n.787+3980G>A) c.2407G>A (p.Gly803Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626268G>C | CA370993663 | RP1 | c.2386G>C (p.Gly796Arg) c.787+3980G>C (n.787+3980G>C) c.2407G>C (p.Gly803Arg) | |
| 8 | g.54626268G= | CA1785188241 | RP1 | c.2386G= (p.Gly796=) c.787+3980G= (n.787+3980G=) c.2407G= (p.Gly803=) | |
| 8 | g.54626268G>T | CA370993665 | RP1 | c.2386G>T (p.Gly796Cys) c.787+3980G>T (n.787+3980G>T) c.2407G>T (p.Gly803Cys) | |
| 8 | g.54626269G>A | CA4751524 | RP1 | c.2387G>A (p.Gly796Asp) c.787+3981G>A (n.787+3981G>A) c.2408G>A (p.Gly803Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626269G>C | CA370993666 | RP1 | c.2387G>C (p.Gly796Ala) c.787+3981G>C (n.787+3981G>C) c.2408G>C (p.Gly803Ala) | |
| 8 | g.54626269G= | CA1785188242 | RP1 | c.2387G= (p.Gly796=) c.787+3981G= (n.787+3981G=) c.2408G= (p.Gly803=) | |
| 8 | g.54626269G>T | CA4751523 | RP1 | c.2387G>T (p.Gly796Val) c.787+3981G>T (n.787+3981G>T) c.2408G>T (p.Gly803Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626270T>A | CA461098727 | RP1 | c.2388T>A (p.Gly796=) c.787+3982T>A (n.787+3982T>A) c.2409T>A (p.Gly803=) | |
| 8 | g.54626270T>C | CA461098728 | RP1 | c.2388T>C (p.Gly796=) c.787+3982T>C (n.787+3982T>C) c.2409T>C (p.Gly803=) | gnomAD v4 |
| 8 | g.54626270T>G | CA461098729 | RP1 | c.2388T>G (p.Gly796=) c.787+3982T>G (n.787+3982T>G) c.2409T>G (p.Gly803=) | |
| 8 | g.54626271C>A | CA370993667 | RP1 | c.2389C>A (p.Gln797Lys) c.787+3983C>A (n.787+3983C>A) c.2410C>A (p.Gln804Lys) | gnomAD v4 |
| 8 | g.54626271C>G | CA370993668 | RP1 | c.2389C>G (p.Gln797Glu) c.787+3983C>G (n.787+3983C>G) c.2410C>G (p.Gln804Glu) | |
| 8 | g.54626271C>T | CA370993669 | RP1 | c.2389C>T (p.Gln797Ter) c.787+3983C>T (n.787+3983C>T) c.2410C>T (p.Gln804Ter) | |
| 8 | g.54626271_54626273delinsCAA | CA1785188243 | RP1 | c.2389_2391delinsCAA (p.Gln797=) c.787+3983_787+3985delinsCAA (n.787+3983_787+3985delinsCAA) c.2410_2412delinsCAA (p.Gln804=) | |
| 8 | g.54626272A>C | CA370993670 | RP1 | c.2390A>C (p.Gln797Pro) c.787+3984A>C (n.787+3984A>C) c.2411A>C (p.Gln804Pro) | |
| 8 | g.54626272A>G | CA370993671 | RP1 | c.2390A>G (p.Gln797Arg) c.787+3984A>G (n.787+3984A>G) c.2411A>G (p.Gln804Arg) | gnomAD v4 |
| 8 | g.54626272A>T | CA370993672 | RP1 | c.2390A>T (p.Gln797Leu) c.787+3984A>T (n.787+3984A>T) c.2411A>T (p.Gln804Leu) | |
| 8 | g.54626273_54626274del | CA582205590 | RP1 | c.2391_2392del (p.Asp799Ter) c.787+3985_787+3986del (n.787+3985_787+3986del) c.2412_2413del (p.Asp806Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626273A>C | CA370993673 | RP1 | c.2391A>C (p.Gln797His) c.787+3985A>C (n.787+3985A>C) c.2412A>C (p.Gln804His) | |
| 8 | g.54626273A>G | CA461098735 | RP1 | c.2391A>G (p.Gln797=) c.787+3985A>G (n.787+3985A>G) c.2412A>G (p.Gln804=) | |
| 8 | g.54626273A>T | CA370993674 | RP1 | c.2391A>T (p.Gln797His) c.787+3985A>T (n.787+3985A>T) c.2412A>T (p.Gln804His) | |
| 8 | g.54626274A>C | CA461098737 | RP1 | c.2392A>C (p.Arg798=) c.787+3986A>C (n.787+3986A>C) c.2413A>C (p.Arg805=) | |
| 8 | g.54626274A>G | CA370993675 | RP1 | c.2392A>G (p.Arg798Gly) c.787+3986A>G (n.787+3986A>G) c.2413A>G (p.Arg805Gly) | |
| 8 | g.54626274A>T | CA370993676 | RP1 | c.2392A>T (p.Arg798Ter) c.787+3986A>T (n.787+3986A>T) c.2413A>T (p.Arg805Ter) | |
| 8 | g.54626275G>A | CA370993677 | RP1 | c.2393G>A (p.Arg798Lys) c.787+3987G>A (n.787+3987G>A) c.2414G>A (p.Arg805Lys) | COSMIC |
| 8 | g.54626275G>C | CA370993678 | RP1 | c.2393G>C (p.Arg798Thr) c.787+3987G>C (n.787+3987G>C) c.2414G>C (p.Arg805Thr) | |
| 8 | g.54626275G>T | CA370993679 | RP1 | c.2393G>T (p.Arg798Ile) c.787+3987G>T (n.787+3987G>T) c.2414G>T (p.Arg805Ile) | |
| 8 | g.54626276A>C | CA370993681 | RP1 | c.2394A>C (p.Arg798Ser) c.787+3988A>C (n.787+3988A>C) c.2415A>C (p.Arg805Ser) | |
| 8 | g.54626276A>G | CA461098741 | RP1 | c.2394A>G (p.Arg798=) c.787+3988A>G (n.787+3988A>G) c.2415A>G (p.Arg805=) | |
| 8 | g.54626276A>T | CA370993680 | RP1 | c.2394A>T (p.Arg798Ser) c.787+3988A>T (n.787+3988A>T) c.2415A>T (p.Arg805Ser) | |
| 8 | g.54626277G>A | CA370993682 | RP1 | c.2395G>A (p.Asp799Asn) c.787+3989G>A (n.787+3989G>A) c.2416G>A (p.Asp806Asn) | COSMIC |
| 8 | g.54626277G>C | CA370993683 | RP1 | c.2395G>C (p.Asp799His) c.787+3989G>C (n.787+3989G>C) c.2416G>C (p.Asp806His) | |
| 8 | g.54626277G= | CA1785188244 | RP1 | c.2395G= (p.Asp799=) c.787+3989G= (n.787+3989G=) c.2416G= (p.Asp806=) | |
| 8 | g.54626277G>T | CA370993684 | RP1 | c.2395G>T (p.Asp799Tyr) c.787+3989G>T (n.787+3989G>T) c.2416G>T (p.Asp806Tyr) | dbSNP gnomAD v4 |
| 8 | g.54626278A>C | CA370993685 | RP1 | c.2396A>C (p.Asp799Ala) c.787+3990A>C (n.787+3990A>C) c.2417A>C (p.Asp806Ala) | |
| 8 | g.54626278A>G | CA370993686 | RP1 | c.2396A>G (p.Asp799Gly) c.787+3990A>G (n.787+3990A>G) c.2417A>G (p.Asp806Gly) | |
| 8 | g.54626278A>T | CA370993687 | RP1 | c.2396A>T (p.Asp799Val) c.787+3990A>T (n.787+3990A>T) c.2417A>T (p.Asp806Val) | |
| 8 | g.54626279T>A | CA4751525 | RP1 | c.2397T>A (p.Asp799Glu) c.787+3991T>A (n.787+3991T>A) c.2418T>A (p.Asp806Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626279T>C | CA461098748 | RP1 | c.2397T>C (p.Asp799=) c.787+3991T>C (n.787+3991T>C) c.2418T>C (p.Asp806=) | |
| 8 | g.54626279T>G | CA4751526 | RP1 | c.2397T>G (p.Asp799Glu) c.787+3991T>G (n.787+3991T>G) c.2418T>G (p.Asp806Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626279T= | CA1785188245 | RP1 | c.2397T= (p.Asp799=) c.787+3991T= (n.787+3991T=) c.2418T= (p.Asp806=) | |
| 8 | g.54626280A>C | CA370993689 | RP1 | c.2398A>C (p.Lys800Gln) c.787+3992A>C (n.787+3992A>C) c.2419A>C (p.Lys807Gln) | |
| 8 | g.54626280A>G | CA370993691 | RP1 | c.2398A>G (p.Lys800Glu) c.787+3992A>G (n.787+3992A>G) c.2419A>G (p.Lys807Glu) | |
| 8 | g.54626280A>T | CA370993692 | RP1 | c.2398A>T (p.Lys800Ter) c.787+3992A>T (n.787+3992A>T) c.2419A>T (p.Lys807Ter) | ClinVar |
| 8 | g.54626281_54626282del | CA2695209285 | RP1 | c.2399_2400del (p.Lys800SerfsTer6) c.787+3993_787+3994del (n.787+3993_787+3994del) c.2420_2421del (p.Lys807SerfsTer6) | |
| 8 | g.54626281A>C | CA370993693 | RP1 | c.2399A>C (p.Lys800Thr) c.787+3993A>C (n.787+3993A>C) c.2420A>C (p.Lys807Thr) | gnomAD v4 |
| 8 | g.54626281A>G | CA370993695 | RP1 | c.2399A>G (p.Lys800Arg) c.787+3993A>G (n.787+3993A>G) c.2420A>G (p.Lys807Arg) | |
| 8 | g.54626281A>T | CA370993697 | RP1 | c.2399A>T (p.Lys800Ile) c.787+3993A>T (n.787+3993A>T) c.2420A>T (p.Lys807Ile) | |
| 8 | g.54626282A>C | CA370993698 | RP1 | c.2400A>C (p.Lys800Asn) c.787+3994A>C (n.787+3994A>C) c.2421A>C (p.Lys807Asn) | |
| 8 | g.54626282A>G | CA461098753 | RP1 | c.2400A>G (p.Lys800=) c.787+3994A>G (n.787+3994A>G) c.2421A>G (p.Lys807=) | |
| 8 | g.54626282A>T | CA370993700 | RP1 | c.2400A>T (p.Lys800Asn) c.787+3994A>T (n.787+3994A>T) c.2421A>T (p.Lys807Asn) | |
| 8 | g.54626283G>A | CA370993701 | RP1 | c.2401G>A (p.Val801Met) c.787+3995G>A (n.787+3995G>A) c.2422G>A (p.Val808Met) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626283G>C | CA370993705 | RP1 | c.2401G>C (p.Val801Leu) c.787+3995G>C (n.787+3995G>C) c.2422G>C (p.Val808Leu) | |
| 8 | g.54626283G= | CA1785188246 | RP1 | c.2401G= (p.Val801=) c.787+3995G= (n.787+3995G=) c.2422G= (p.Val808=) | |
| 8 | g.54626283G>T | CA370993703 | RP1 | c.2401G>T (p.Val801Leu) c.787+3995G>T (n.787+3995G>T) c.2422G>T (p.Val808Leu) | |
| 8 | g.54626284T>A | CA370993707 | RP1 | c.2402T>A (p.Val801Glu) c.787+3996T>A (n.787+3996T>A) c.2423T>A (p.Val808Glu) | |
| 8 | g.54626284T>C | CA370993710 | RP1 | c.2402T>C (p.Val801Ala) c.787+3996T>C (n.787+3996T>C) c.2423T>C (p.Val808Ala) | gnomAD v4 |
| 8 | g.54626284T>G | CA370993708 | RP1 | c.2402T>G (p.Val801Gly) c.787+3996T>G (n.787+3996T>G) c.2423T>G (p.Val808Gly) | |
| 8 | g.54626285G>A | CA461098756 | RP1 | c.2403G>A (p.Val801=) c.787+3997G>A (n.787+3997G>A) c.2424G>A (p.Val808=) | gnomAD v3 gnomAD v4 |
| 8 | g.54626285G>C | CA461098757 | RP1 | c.2403G>C (p.Val801=) c.787+3997G>C (n.787+3997G>C) c.2424G>C (p.Val808=) | |
| 8 | g.54626285G= | CA1785188247 | RP1 | c.2403G= (p.Val801=) c.787+3997G= (n.787+3997G=) c.2424G= (p.Val808=) | |
| 8 | g.54626285G>T | CA461098758 | RP1 | c.2403G>T (p.Val801=) c.787+3997G>T (n.787+3997G>T) c.2424G>T (p.Val808=) | dbSNP |
| 8 | g.54626286T>A | CA370993712 | RP1 | c.2404T>A (p.Phe802Ile) c.787+3998T>A (n.787+3998T>A) c.2425T>A (p.Phe809Ile) | |
| 8 | g.54626286T>C | CA370993714 | RP1 | c.2404T>C (p.Phe802Leu) c.787+3998T>C (n.787+3998T>C) c.2425T>C (p.Phe809Leu) | |
| 8 | g.54626286T>G | CA370993715 | RP1 | c.2404T>G (p.Phe802Val) c.787+3998T>G (n.787+3998T>G) c.2425T>G (p.Phe809Val) | |
| 8 | g.54626287T>A | CA370993717 | RP1 | c.2405T>A (p.Phe802Tyr) c.787+3999T>A (n.787+3999T>A) c.2426T>A (p.Phe809Tyr) | gnomAD v4 |
| 8 | g.54626287T>C | CA370993718 | RP1 | c.2405T>C (p.Phe802Ser) c.787+3999T>C (n.787+3999T>C) c.2426T>C (p.Phe809Ser) | dbSNP |
| 8 | g.54626287T>G | CA370993720 | RP1 | c.2405T>G (p.Phe802Cys) c.787+3999T>G (n.787+3999T>G) c.2426T>G (p.Phe809Cys) | |
| 8 | g.54626288T>A | CA370993722 | RP1 | c.2406T>A (p.Phe802Leu) c.787+4000T>A (n.787+4000T>A) c.2427T>A (p.Phe809Leu) | |
| 8 | g.54626288T>C | CA461098760 | RP1 | c.2406T>C (p.Phe802=) c.787+4000T>C (n.787+4000T>C) c.2427T>C (p.Phe809=) | |
| 8 | g.54626288T>G | CA370993723 | RP1 | c.2406T>G (p.Phe802Leu) c.787+4000T>G (n.787+4000T>G) c.2427T>G (p.Phe809Leu) | |
| 8 | g.54626289C>A | CA370993726 | RP1 | c.2407C>A (p.Pro803Thr) c.787+4001C>A (n.787+4001C>A) c.2428C>A (p.Pro810Thr) | |
| 8 | g.54626289C= | CA1785188248 | RP1 | c.2407C= (p.Pro803=) c.787+4001C= (n.787+4001C=) c.2428C= (p.Pro810=) | |
| 8 | g.54626289C>G | CA370993727 | RP1 | c.2407C>G (p.Pro803Ala) c.787+4001C>G (n.787+4001C>G) c.2428C>G (p.Pro810Ala) | dbSNP gnomAD v2 |
| 8 | g.54626289C>T | CA370993728 | RP1 | c.2407C>T (p.Pro803Ser) c.787+4001C>T (n.787+4001C>T) c.2428C>T (p.Pro810Ser) | COSMIC |
| 8 | g.54626290C>A | CA370993734 | RP1 | c.2408C>A (p.Pro803His) c.787+4002C>A (n.787+4002C>A) c.2429C>A (p.Pro810His) | |
| 8 | g.54626290C>G | CA370993732 | RP1 | c.2408C>G (p.Pro803Arg) c.787+4002C>G (n.787+4002C>G) c.2429C>G (p.Pro810Arg) | |
| 8 | g.54626290C>T | CA370993730 | RP1 | c.2408C>T (p.Pro803Leu) c.787+4002C>T (n.787+4002C>T) c.2429C>T (p.Pro810Leu) | gnomAD v4 |
| 8 | g.54626291T>A | CA461098762 | RP1 | c.2409T>A (p.Pro803=) c.787+4003T>A (n.787+4003T>A) c.2430T>A (p.Pro810=) | COSMIC |
| 8 | g.54626291T>C | CA461098765 | RP1 | c.2409T>C (p.Pro803=) c.787+4003T>C (n.787+4003T>C) c.2430T>C (p.Pro810=) | |
| 8 | g.54626291T>G | CA461098767 | RP1 | c.2409T>G (p.Pro803=) c.787+4003T>G (n.787+4003T>G) c.2430T>G (p.Pro810=) | |
| 8 | g.54626292C>A | CA370993735 | RP1 | c.2410C>A (p.His804Asn) c.787+4004C>A (n.787+4004C>A) c.2431C>A (p.His811Asn) | |
| 8 | g.54626292C= | CA1785188249 | RP1 | c.2410C= (p.His804=) c.787+4004C= (n.787+4004C=) c.2431C= (p.His811=) | |
| 8 | g.54626292C>G | CA370993737 | RP1 | c.2410C>G (p.His804Asp) c.787+4004C>G (n.787+4004C>G) c.2431C>G (p.His811Asp) | |
| 8 | g.54626292C>T | CA4751527 | RP1 | c.2410C>T (p.His804Tyr) c.787+4004C>T (n.787+4004C>T) c.2431C>T (p.His811Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626293A>C | CA370993739 | RP1 | c.2411A>C (p.His804Pro) c.787+4005A>C (n.787+4005A>C) c.2432A>C (p.His811Pro) | dbSNP |
| 8 | g.54626293A>G | CA370993740 | RP1 | c.2411A>G (p.His804Arg) c.787+4005A>G (n.787+4005A>G) c.2432A>G (p.His811Arg) | gnomAD v4 |
| 8 | g.54626293A>T | CA370993742 | RP1 | c.2411A>T (p.His804Leu) c.787+4005A>T (n.787+4005A>T) c.2432A>T (p.His811Leu) | |
| 8 | g.54626294C>A | CA370993744 | RP1 | c.2412C>A (p.His804Gln) c.787+4006C>A (n.787+4006C>A) c.2433C>A (p.His811Gln) | ClinVar |
| 8 | g.54626294C>G | CA370993745 | RP1 | c.2412C>G (p.His804Gln) c.787+4006C>G (n.787+4006C>G) c.2433C>G (p.His811Gln) | |
| 8 | g.54626294C>T | CA461098772 | RP1 | c.2412C>T (p.His804=) c.787+4006C>T (n.787+4006C>T) c.2433C>T (p.His811=) | |
| 8 | g.54626295A= | CA1785188250 | RP1 | c.2413A= (p.Asn805=) c.787+4007A= (n.787+4007A=) c.2434A= (p.Asn812=) | |
| 8 | g.54626295A>C | CA370993748 | RP1 | c.2413A>C (p.Asn805His) c.787+4007A>C (n.787+4007A>C) c.2434A>C (p.Asn812His) | |
| 8 | g.54626295A>G | CA4751528 | RP1 | c.2413A>G (p.Asn805Asp) c.787+4007A>G (n.787+4007A>G) c.2434A>G (p.Asn812Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626295A>T | CA370993750 | RP1 | c.2413A>T (p.Asn805Tyr) c.787+4007A>T (n.787+4007A>T) c.2434A>T (p.Asn812Tyr) | |
| 8 | g.54626296A= | CA1785188251 | RP1 | c.2414A= (p.Asn805=) c.787+4008A= (n.787+4008A=) c.2435A= (p.Asn812=) | |
| 8 | g.54626296A>C | CA370993755 | RP1 | c.2414A>C (p.Asn805Thr) c.787+4008A>C (n.787+4008A>C) c.2435A>C (p.Asn812Thr) | |
| 8 | g.54626296A>G | CA370993754 | RP1 | c.2414A>G (p.Asn805Ser) c.787+4008A>G (n.787+4008A>G) c.2435A>G (p.Asn812Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626296A>T | CA370993752 | RP1 | c.2414A>T (p.Asn805Ile) c.787+4008A>T (n.787+4008A>T) c.2435A>T (p.Asn812Ile) | |
| 8 | g.54626297T>A | CA370993757 | RP1 | c.2415T>A (p.Asn805Lys) c.787+4009T>A (n.787+4009T>A) c.2436T>A (p.Asn812Lys) | gnomAD v4 |
| 8 | g.54626297T>C | CA461098773 | RP1 | c.2415T>C (p.Asn805=) c.787+4009T>C (n.787+4009T>C) c.2436T>C (p.Asn812=) | |
| 8 | g.54626297T>G | CA370993759 | RP1 | c.2415T>G (p.Asn805Lys) c.787+4009T>G (n.787+4009T>G) c.2436T>G (p.Asn812Lys) | |
| 8 | g.54626298G>A | CA370993761 | RP1 | c.2416G>A (p.Glu806Lys) c.787+4010G>A (n.787+4010G>A) c.2437G>A (p.Glu813Lys) | COSMIC |
| 8 | g.54626298G>C | CA370993762 | RP1 | c.2416G>C (p.Glu806Gln) c.787+4010G>C (n.787+4010G>C) c.2437G>C (p.Glu813Gln) | |
| 8 | g.54626298G>T | CA370993763 | RP1 | c.2416G>T (p.Glu806Ter) c.787+4010G>T (n.787+4010G>T) c.2437G>T (p.Glu813Ter) | |
| 8 | g.54626299A= | CA1785188252 | RP1 | c.2417A= (p.Glu806=) c.787+4011A= (n.787+4011A=) c.2438A= (p.Glu813=) | |
| 8 | g.54626299A>C | CA370993764 | RP1 | c.2417A>C (p.Glu806Ala) c.787+4011A>C (n.787+4011A>C) c.2438A>C (p.Glu813Ala) | |
| 8 | g.54626299A>G | CA370993766 | RP1 | c.2417A>G (p.Glu806Gly) c.787+4011A>G (n.787+4011A>G) c.2438A>G (p.Glu813Gly) | |
| 8 | g.54626299A>T | CA4751529 | RP1 | c.2417A>T (p.Glu806Val) c.787+4011A>T (n.787+4011A>T) c.2438A>T (p.Glu813Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626300A= | CA1785188253 | RP1 | c.2418A= (p.Glu806=) c.787+4012A= (n.787+4012A=) c.2439A= (p.Glu813=) | |
| 8 | g.54626300A>C | CA370993769 | RP1 | c.2418A>C (p.Glu806Asp) c.787+4012A>C (n.787+4012A>C) c.2439A>C (p.Glu813Asp) | |
| 8 | g.54626300A>G | CA461098775 | RP1 | c.2418A>G (p.Glu806=) c.787+4012A>G (n.787+4012A>G) c.2439A>G (p.Glu813=) | dbSNP gnomAD v4 |
| 8 | g.54626300A>T | CA370993770 | RP1 | c.2418A>T (p.Glu806Asp) c.787+4012A>T (n.787+4012A>T) c.2439A>T (p.Glu813Asp) | |
| 8 | g.54626301T>A | CA370993772 | RP1 | c.2419T>A (p.Ser807Thr) c.787+4013T>A (n.787+4013T>A) c.2440T>A (p.Ser814Thr) | |
| 8 | g.54626301T>C | CA370993774 | RP1 | c.2419T>C (p.Ser807Pro) c.787+4013T>C (n.787+4013T>C) c.2440T>C (p.Ser814Pro) | |
| 8 | g.54626301T>G | CA370993776 | RP1 | c.2419T>G (p.Ser807Ala) c.787+4013T>G (n.787+4013T>G) c.2440T>G (p.Ser814Ala) | |
| 8 | g.54626302C>A | CA370993781 | RP1 | c.2420C>A (p.Ser807Tyr) c.787+4014C>A (n.787+4014C>A) c.2441C>A (p.Ser814Tyr) | |
| 8 | g.54626302C= | CA1785188254 | RP1 | c.2420C= (p.Ser807=) c.787+4014C= (n.787+4014C=) c.2441C= (p.Ser814=) | |
| 8 | g.54626302C>G | CA370993777 | RP1 | c.2420C>G (p.Ser807Cys) c.787+4014C>G (n.787+4014C>G) c.2441C>G (p.Ser814Cys) | |
| 8 | g.54626302C>T | CA370993779 | RP1 | c.2420C>T (p.Ser807Phe) c.787+4014C>T (n.787+4014C>T) c.2441C>T (p.Ser814Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626303T>A | CA461098780 | RP1 | c.2421T>A (p.Ser807=) c.787+4015T>A (n.787+4015T>A) c.2442T>A (p.Ser814=) | |
| 8 | g.54626303T>C | CA177237160 | RP1 | c.2421T>C (p.Ser807=) c.787+4015T>C (n.787+4015T>C) c.2442T>C (p.Ser814=) | dbSNP |
| 8 | g.54626303T>G | CA461098781 | RP1 | c.2421T>G (p.Ser807=) c.787+4015T>G (n.787+4015T>G) c.2442T>G (p.Ser814=) | |
| 8 | g.54626303T= | CA1785188255 | RP1 | c.2421T= (p.Ser807=) c.787+4015T= (n.787+4015T=) c.2442T= (p.Ser814=) | |
| 8 | g.54626304A= | CA1785188256 | RP1 | c.2422A= (p.Lys808=) c.787+4016A= (n.787+4016A=) c.2443A= (p.Lys815=) | |
| 8 | g.54626304A>C | CA370993783 | RP1 | c.2422A>C (p.Lys808Gln) c.787+4016A>C (n.787+4016A>C) c.2443A>C (p.Lys815Gln) | |
| 8 | g.54626304A>G | CA370993784 | RP1 | c.2422A>G (p.Lys808Glu) c.787+4016A>G (n.787+4016A>G) c.2443A>G (p.Lys815Glu) | |
| 8 | g.54626304A>T | CA370993786 | RP1 | c.2422A>T (p.Lys808Ter) c.787+4016A>T (n.787+4016A>T) c.2443A>T (p.Lys815Ter) | dbSNP |
| 8 | g.54626305A>C | CA370993787 | RP1 | c.2423A>C (p.Lys808Thr) c.787+4017A>C (n.787+4017A>C) c.2444A>C (p.Lys815Thr) | |
| 8 | g.54626305A>G | CA370993789 | RP1 | c.2423A>G (p.Lys808Arg) c.787+4017A>G (n.787+4017A>G) c.2444A>G (p.Lys815Arg) | |
| 8 | g.54626305A>T | CA370993790 | RP1 | c.2423A>T (p.Lys808Ile) c.787+4017A>T (n.787+4017A>T) c.2444A>T (p.Lys815Ile) | |
| 8 | g.54626306A>C | CA370993791 | RP1 | c.2424A>C (p.Lys808Asn) c.787+4018A>C (n.787+4018A>C) c.2445A>C (p.Lys815Asn) | |
| 8 | g.54626306A>G | CA461098784 | RP1 | c.2424A>G (p.Lys808=) c.787+4018A>G (n.787+4018A>G) c.2445A>G (p.Lys815=) | |
| 8 | g.54626306A>T | CA370993792 | RP1 | c.2424A>T (p.Lys808Asn) c.787+4018A>T (n.787+4018A>T) c.2445A>T (p.Lys815Asn) | |
| 8 | g.54626307T>A | CA370993793 | RP1 | c.2425T>A (p.Tyr809Asn) c.787+4019T>A (n.787+4019T>A) c.2446T>A (p.Tyr816Asn) | |
| 8 | g.54626307T>C | CA370993795 | RP1 | c.2425T>C (p.Tyr809His) c.787+4019T>C (n.787+4019T>C) c.2446T>C (p.Tyr816His) | |
| 8 | g.54626307T>G | CA370993797 | RP1 | c.2425T>G (p.Tyr809Asp) c.787+4019T>G (n.787+4019T>G) c.2446T>G (p.Tyr816Asp) | |
| 8 | g.54626308A>C | CA370993802 | RP1 | c.2426A>C (p.Tyr809Ser) c.787+4020A>C (n.787+4020A>C) c.2447A>C (p.Tyr816Ser) | |
| 8 | g.54626308A>G | CA370993800 | RP1 | c.2426A>G (p.Tyr809Cys) c.787+4020A>G (n.787+4020A>G) c.2447A>G (p.Tyr816Cys) | gnomAD v4 |
| 8 | g.54626308A>T | CA370993799 | RP1 | c.2426A>T (p.Tyr809Phe) c.787+4020A>T (n.787+4020A>T) c.2447A>T (p.Tyr816Phe) | |
| 8 | g.54626309T>A | CA370993804 | RP1 | c.2427T>A (p.Tyr809Ter) c.787+4021T>A (n.787+4021T>A) c.2448T>A (p.Tyr816Ter) | |
| 8 | g.54626309T>C | CA4751530 | RP1 | c.2427T>C (p.Tyr809=) c.787+4021T>C (n.787+4021T>C) c.2448T>C (p.Tyr816=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626309T>G | CA370993806 | RP1 | c.2427T>G (p.Tyr809Ter) c.787+4021T>G (n.787+4021T>G) c.2448T>G (p.Tyr816Ter) | |
| 8 | g.54626309T= | CA1785188257 | RP1 | c.2427T= (p.Tyr809=) c.787+4021T= (n.787+4021T=) c.2448T= (p.Tyr816=) | |
| 8 | g.54626310T>A | CA370993807 | RP1 | c.2428T>A (p.Cys810Ser) c.787+4022T>A (n.787+4022T>A) c.2449T>A (p.Cys817Ser) | |
| 8 | g.54626310T>C | CA370993809 | RP1 | c.2428T>C (p.Cys810Arg) c.787+4022T>C (n.787+4022T>C) c.2449T>C (p.Cys817Arg) | |
| 8 | g.54626310T>G | CA370993811 | RP1 | c.2428T>G (p.Cys810Gly) c.787+4022T>G (n.787+4022T>G) c.2449T>G (p.Cys817Gly) | |
| 8 | g.54626310T= | CA1785188258 | RP1 | c.2428T= (p.Cys810=) c.787+4022T= (n.787+4022T=) c.2449T= (p.Cys817=) | |
| 8 | g.54626311G>A | CA370993815 | RP1 | c.2429G>A (p.Cys810Tyr) c.787+4023G>A (n.787+4023G>A) c.2450G>A (p.Cys817Tyr) | dbSNP gnomAD v4 |
| 8 | g.54626311G>C | CA370993812 | RP1 | c.2429G>C (p.Cys810Ser) c.787+4023G>C (n.787+4023G>C) c.2450G>C (p.Cys817Ser) | |
| 8 | g.54626311G= | CA1785188259 | RP1 | c.2429G= (p.Cys810=) c.787+4023G= (n.787+4023G=) c.2450G= (p.Cys817=) | |
| 8 | g.54626311G>T | CA370993814 | RP1 | c.2429G>T (p.Cys810Phe) c.787+4023G>T (n.787+4023G>T) c.2450G>T (p.Cys817Phe) | |
| 8 | g.54626311_54626328dup | CA1785188260 | RP1 | c.2429_2446dup (p.Glu815_Asn816insSerLysSerThrPheGlu) c.787+4023_787+4040dup (n.787+4023_787+4040dup) c.2450_2467dup (p.Glu822_Asn823insSerLysSerThrPheGlu) | dbSNP |
| 8 | g.54626312C>A | CA370993818 | RP1 | c.2430C>A (p.Cys810Ter) c.787+4024C>A (n.787+4024C>A) c.2451C>A (p.Cys817Ter) | ClinVar dbSNP |
| 8 | g.54626312C= | CA1785188261 | RP1 | c.2430C= (p.Cys810=) c.787+4024C= (n.787+4024C=) c.2451C= (p.Cys817=) | |
| 8 | g.54626312C>G | CA370993819 | RP1 | c.2430C>G (p.Cys810Trp) c.787+4024C>G (n.787+4024C>G) c.2451C>G (p.Cys817Trp) | |
| 8 | g.54626312C>T | CA461098792 | RP1 | c.2430C>T (p.Cys810=) c.787+4024C>T (n.787+4024C>T) c.2451C>T (p.Cys817=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626313A= | CA1785188262 | RP1 | c.2431A= (p.Lys811=) c.787+4025A= (n.787+4025A=) c.2452A= (p.Lys818=) | |
| 8 | g.54626313A>C | CA370993821 | RP1 | c.2431A>C (p.Lys811Gln) c.787+4025A>C (n.787+4025A>C) c.2452A>C (p.Lys818Gln) | |
| 8 | g.54626313A>G | CA4751531 | RP1 | c.2431A>G (p.Lys811Glu) c.787+4025A>G (n.787+4025A>G) c.2452A>G (p.Lys818Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626313A>T | CA370993823 | RP1 | c.2431A>T (p.Lys811Ter) c.787+4025A>T (n.787+4025A>T) c.2452A>T (p.Lys818Ter) | |
| 8 | g.54626316del | CA2695209286 | RP1 | c.2434del (p.Ser812ValfsTer?) c.787+4028del (n.787+4028del) c.2455del (p.Ser819ValfsTer?) | |
| 8 | g.54626314A= | CA1785188263 | RP1 | c.2432A= (p.Lys811=) c.787+4026A= (n.787+4026A=) c.2453A= (p.Lys818=) | |
| 8 | g.54626314A>C | CA370993827 | RP1 | c.2432A>C (p.Lys811Thr) c.787+4026A>C (n.787+4026A>C) c.2453A>C (p.Lys818Thr) | gnomAD v4 |
| 8 | g.54626314A>G | CA177237167 | RP1 | c.2432A>G (p.Lys811Arg) c.787+4026A>G (n.787+4026A>G) c.2453A>G (p.Lys818Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626314A>T | CA370993826 | RP1 | c.2432A>T (p.Lys811Ile) c.787+4026A>T (n.787+4026A>T) c.2453A>T (p.Lys818Ile) | gnomAD v4 |
| 8 | g.54626315A>C | CA370993830 | RP1 | c.2433A>C (p.Lys811Asn) c.787+4027A>C (n.787+4027A>C) c.2454A>C (p.Lys818Asn) | |
| 8 | g.54626315A>G | CA461098794 | RP1 | c.2433A>G (p.Lys811=) c.787+4027A>G (n.787+4027A>G) c.2454A>G (p.Lys818=) | |
| 8 | g.54626315A>T | CA370993831 | RP1 | c.2433A>T (p.Lys811Asn) c.787+4027A>T (n.787+4027A>T) c.2454A>T (p.Lys818Asn) | |
| 8 | g.54626316A>C | CA370993833 | RP1 | c.2434A>C (p.Ser812Arg) c.787+4028A>C (n.787+4028A>C) c.2455A>C (p.Ser819Arg) | |
| 8 | g.54626316A>G | CA370993834 | RP1 | c.2434A>G (p.Ser812Gly) c.787+4028A>G (n.787+4028A>G) c.2455A>G (p.Ser819Gly) | |
| 8 | g.54626316A>T | CA370993835 | RP1 | c.2434A>T (p.Ser812Cys) c.787+4028A>T (n.787+4028A>T) c.2455A>T (p.Ser819Cys) | |
| 8 | g.54626317G>A | CA370993836 | RP1 | c.2435G>A (p.Ser812Asn) c.787+4029G>A (n.787+4029G>A) c.2456G>A (p.Ser819Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626317G>C | CA370993837 | RP1 | c.2435G>C (p.Ser812Thr) c.787+4029G>C (n.787+4029G>C) c.2456G>C (p.Ser819Thr) | |
| 8 | g.54626317G= | CA1785188264 | RP1 | c.2435G= (p.Ser812=) c.787+4029G= (n.787+4029G=) c.2456G= (p.Ser819=) | |
| 8 | g.54626317G>T | CA370993838 | RP1 | c.2435G>T (p.Ser812Ile) c.787+4029G>T (n.787+4029G>T) c.2456G>T (p.Ser819Ile) | |
| 8 | g.54626318T>A | CA370993839 | RP1 | c.2436T>A (p.Ser812Arg) c.787+4030T>A (n.787+4030T>A) c.2457T>A (p.Ser819Arg) | |
| 8 | g.54626318T>C | CA461098798 | RP1 | c.2436T>C (p.Ser812=) c.787+4030T>C (n.787+4030T>C) c.2457T>C (p.Ser819=) | gnomAD v4 |
| 8 | g.54626318T>G | CA370993840 | RP1 | c.2436T>G (p.Ser812Arg) c.787+4030T>G (n.787+4030T>G) c.2457T>G (p.Ser819Arg) | |
| 8 | g.54626319A= | CA1785188265 | RP1 | c.2437A= (p.Thr813=) c.787+4031A= (n.787+4031A=) c.2458A= (p.Thr820=) | |
| 8 | g.54626319A>C | CA370993841 | RP1 | c.2437A>C (p.Thr813Pro) c.787+4031A>C (n.787+4031A>C) c.2458A>C (p.Thr820Pro) | |
| 8 | g.54626319A>G | CA370993842 | RP1 | c.2437A>G (p.Thr813Ala) c.787+4031A>G (n.787+4031A>G) c.2458A>G (p.Thr820Ala) | gnomAD v4 |
| 8 | g.54626319A>T | CA370993843 | RP1 | c.2437A>T (p.Thr813Ser) c.787+4031A>T (n.787+4031A>T) c.2458A>T (p.Thr820Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626320C>A | CA370993844 | RP1 | c.2438C>A (p.Thr813Asn) c.787+4032C>A (n.787+4032C>A) c.2459C>A (p.Thr820Asn) | |
| 8 | g.54626320C= | CA1785188266 | RP1 | c.2438C= (p.Thr813=) c.787+4032C= (n.787+4032C=) c.2459C= (p.Thr820=) | |
| 8 | g.54626320C>G | CA370993845 | RP1 | c.2438C>G (p.Thr813Ser) c.787+4032C>G (n.787+4032C>G) c.2459C>G (p.Thr820Ser) | dbSNP |
| 8 | g.54626320C>T | CA4751532 | RP1 | c.2438C>T (p.Thr813Ile) c.787+4032C>T (n.787+4032C>T) c.2459C>T (p.Thr820Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626321T>A | CA461098803 | RP1 | c.2439T>A (p.Thr813=) c.787+4033T>A (n.787+4033T>A) c.2460T>A (p.Thr820=) | |
| 8 | g.54626321T>C | CA461098804 | RP1 | c.2439T>C (p.Thr813=) c.787+4033T>C (n.787+4033T>C) c.2460T>C (p.Thr820=) | |
| 8 | g.54626321T>G | CA461098805 | RP1 | c.2439T>G (p.Thr813=) c.787+4033T>G (n.787+4033T>G) c.2460T>G (p.Thr820=) | |
| 8 | g.54626322T>A | CA370993846 | RP1 | c.2440T>A (p.Phe814Ile) c.787+4034T>A (n.787+4034T>A) c.2461T>A (p.Phe821Ile) | |
| 8 | g.54626322T>C | CA370993847 | RP1 | c.2440T>C (p.Phe814Leu) c.787+4034T>C (n.787+4034T>C) c.2461T>C (p.Phe821Leu) | |
| 8 | g.54626322T>G | CA370993848 | RP1 | c.2440T>G (p.Phe814Val) c.787+4034T>G (n.787+4034T>G) c.2461T>G (p.Phe821Val) | |
| 8 | g.54626323T>A | CA370993849 | RP1 | c.2441T>A (p.Phe814Tyr) c.787+4035T>A (n.787+4035T>A) c.2462T>A (p.Phe821Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626323T>C | CA370993850 | RP1 | c.2441T>C (p.Phe814Ser) c.787+4035T>C (n.787+4035T>C) c.2462T>C (p.Phe821Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626323T>G | CA370993851 | RP1 | c.2441T>G (p.Phe814Cys) c.787+4035T>G (n.787+4035T>G) c.2462T>G (p.Phe821Cys) | |
| 8 | g.54626323T= | CA1785188267 | RP1 | c.2441T= (p.Phe814=) c.787+4035T= (n.787+4035T=) c.2462T= (p.Phe821=) | |
| 8 | g.54626324T>A | CA370993852 | RP1 | c.2442T>A (p.Phe814Leu) c.787+4036T>A (n.787+4036T>A) c.2463T>A (p.Phe821Leu) | |
| 8 | g.54626324T>C | CA461098811 | RP1 | c.2442T>C (p.Phe814=) c.787+4036T>C (n.787+4036T>C) c.2463T>C (p.Phe821=) | |
| 8 | g.54626324T>G | CA370993853 | RP1 | c.2442T>G (p.Phe814Leu) c.787+4036T>G (n.787+4036T>G) c.2463T>G (p.Phe821Leu) | |
| 8 | g.54626325del | CA2687301832 | RP1 | c.2443del (p.Glu815LysfsTer?) c.787+4037del (n.787+4037del) c.2464del (p.Glu822LysfsTer?) | gnomAD v4 |
| 8 | g.54626325G>A | CA4751533 | RP1 | c.2443G>A (p.Glu815Lys) c.787+4037G>A (n.787+4037G>A) c.2464G>A (p.Glu822Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626325G>C | CA370993854 | RP1 | c.2443G>C (p.Glu815Gln) c.787+4037G>C (n.787+4037G>C) c.2464G>C (p.Glu822Gln) | |
| 8 | g.54626325G= | CA1785188268 | RP1 | c.2443G= (p.Glu815=) c.787+4037G= (n.787+4037G=) c.2464G= (p.Glu822=) | |
| 8 | g.54626325G>T | CA370993855 | RP1 | c.2443G>T (p.Glu815Ter) c.787+4037G>T (n.787+4037G>T) c.2464G>T (p.Glu822Ter) | |
| 8 | g.54626326A= | CA1785188269 | RP1 | c.2444A= (p.Glu815=) c.787+4038A= (n.787+4038A=) c.2465A= (p.Glu822=) | |
| 8 | g.54626326A>C | CA370993856 | RP1 | c.2444A>C (p.Glu815Ala) c.787+4038A>C (n.787+4038A>C) c.2465A>C (p.Glu822Ala) | |
| 8 | g.54626326A>G | CA370993857 | RP1 | c.2444A>G (p.Glu815Gly) c.787+4038A>G (n.787+4038A>G) c.2465A>G (p.Glu822Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626326A>T | CA370993858 | RP1 | c.2444A>T (p.Glu815Val) c.787+4038A>T (n.787+4038A>T) c.2465A>T (p.Glu822Val) | |
| 8 | g.54626329dup | CA2695209287 | RP1 | c.2447dup (p.Asn816LysfsTer9) c.787+4041dup (n.787+4041dup) c.2468dup (p.Asn823LysfsTer9) | |
| 8 | g.54626330_54626334del | CA2687301833 | RP1 | c.2448_2452del (p.Asn816LysfsTer7) c.787+4042_787+4046del (n.787+4042_787+4046del) c.2469_2473del (p.Asn823LysfsTer7) | gnomAD v4 |
| 8 | g.54626327A= | CA1785188270 | RP1 | c.2445A= (p.Glu815=) c.787+4039A= (n.787+4039A=) c.2466A= (p.Glu822=) | |
| 8 | g.54626327A>C | CA370993859 | RP1 | c.2445A>C (p.Glu815Asp) c.787+4039A>C (n.787+4039A>C) c.2466A>C (p.Glu822Asp) | |
| 8 | g.54626327A>G | CA461098814 | RP1 | c.2445A>G (p.Glu815=) c.787+4039A>G (n.787+4039A>G) c.2466A>G (p.Glu822=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626327A>T | CA370993860 | RP1 | c.2445A>T (p.Glu815Asp) c.787+4039A>T (n.787+4039A>T) c.2466A>T (p.Glu822Asp) | |
| 8 | g.54626328A= | CA1785188271 | RP1 | c.2446A= (p.Asn816=) c.787+4040A= (n.787+4040A=) c.2467A= (p.Asn823=) | |
| 8 | g.54626328A>C | CA370993861 | RP1 | c.2446A>C (p.Asn816His) c.787+4040A>C (n.787+4040A>C) c.2467A>C (p.Asn823His) | |
| 8 | g.54626328A>G | CA177237173 | RP1 | c.2446A>G (p.Asn816Asp) c.787+4040A>G (n.787+4040A>G) c.2467A>G (p.Asn823Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626328A>T | CA370993862 | RP1 | c.2446A>T (p.Asn816Tyr) c.787+4040A>T (n.787+4040A>T) c.2467A>T (p.Asn823Tyr) | |
| 8 | g.54626329A= | CA1785188272 | RP1 | c.2447A= (p.Asn816=) c.787+4041A= (n.787+4041A=) c.2468A= (p.Asn823=) | |
| 8 | g.54626329A>C | CA370993863 | RP1 | c.2447A>C (p.Asn816Thr) c.787+4041A>C (n.787+4041A>C) c.2468A>C (p.Asn823Thr) | |
| 8 | g.54626329A>G | CA4751534 | RP1 | c.2447A>G (p.Asn816Ser) c.787+4041A>G (n.787+4041A>G) c.2468A>G (p.Asn823Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626329A>T | CA370993864 | RP1 | c.2447A>T (p.Asn816Ile) c.787+4041A>T (n.787+4041A>T) c.2468A>T (p.Asn823Ile) | |
| 8 | g.54626330C>A | CA370993865 | RP1 | c.2448C>A (p.Asn816Lys) c.787+4042C>A (n.787+4042C>A) c.2469C>A (p.Asn823Lys) | gnomAD v4 |
| 8 | g.54626330C>G | CA370993866 | RP1 | c.2448C>G (p.Asn816Lys) c.787+4042C>G (n.787+4042C>G) c.2469C>G (p.Asn823Lys) | |
| 8 | g.54626330C>T | CA461098820 | RP1 | c.2448C>T (p.Asn816=) c.787+4042C>T (n.787+4042C>T) c.2469C>T (p.Asn823=) | |
| 8 | g.54626331A= | CA1785188273 | RP1 | c.2449A= (p.Lys817=) c.787+4043A= (n.787+4043A=) c.2470A= (p.Lys824=) | |
| 8 | g.54626331A>C | CA370993867 | RP1 | c.2449A>C (p.Lys817Gln) c.787+4043A>C (n.787+4043A>C) c.2470A>C (p.Lys824Gln) | |
| 8 | g.54626331A>G | CA4751535 | RP1 | c.2449A>G (p.Lys817Glu) c.787+4043A>G (n.787+4043A>G) c.2470A>G (p.Lys824Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626331A>T | CA370993868 | RP1 | c.2449A>T (p.Lys817Ter) c.787+4043A>T (n.787+4043A>T) c.2470A>T (p.Lys824Ter) | |
| 8 | g.54626333_54626334del | CA2695209288 | RP1 | c.2451_2452del (p.Ser818PhefsTer6) c.787+4045_787+4046del (n.787+4045_787+4046del) c.2472_2473del (p.Ser825PhefsTer6) | |
| 8 | g.54626332A= | CA1785188274 | RP1 | c.2450A= (p.Lys817=) c.787+4044A= (n.787+4044A=) c.2471A= (p.Lys824=) | |
| 8 | g.54626332A>C | CA370993870 | RP1 | c.2450A>C (p.Lys817Thr) c.787+4044A>C (n.787+4044A>C) c.2471A>C (p.Lys824Thr) | |
| 8 | g.54626332A>G | CA4751536 | RP1 | c.2450A>G (p.Lys817Arg) c.787+4044A>G (n.787+4044A>G) c.2471A>G (p.Lys824Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626332A>T | CA370993869 | RP1 | c.2450A>T (p.Lys817Ile) c.787+4044A>T (n.787+4044A>T) c.2471A>T (p.Lys824Ile) | |
| 8 | g.54626333A>C | CA370993871 | RP1 | c.2451A>C (p.Lys817Asn) c.787+4045A>C (n.787+4045A>C) c.2472A>C (p.Lys824Asn) | |
| 8 | g.54626333A>G | CA461098824 | RP1 | c.2451A>G (p.Lys817=) c.787+4045A>G (n.787+4045A>G) c.2472A>G (p.Lys824=) | |
| 8 | g.54626333A>T | CA370993872 | RP1 | c.2451A>T (p.Lys817Asn) c.787+4045A>T (n.787+4045A>T) c.2472A>T (p.Lys824Asn) | |
| 8 | g.54626334A>C | CA370993873 | RP1 | c.2452A>C (p.Ser818Arg) c.787+4046A>C (n.787+4046A>C) c.2473A>C (p.Ser825Arg) | |
| 8 | g.54626334A>G | CA370993875 | RP1 | c.2452A>G (p.Ser818Gly) c.787+4046A>G (n.787+4046A>G) c.2473A>G (p.Ser825Gly) | |
| 8 | g.54626334A>T | CA370993874 | RP1 | c.2452A>T (p.Ser818Cys) c.787+4046A>T (n.787+4046A>T) c.2473A>T (p.Ser825Cys) | |
| 8 | g.54626335G>A | CA370993876 | RP1 | c.2453G>A (p.Ser818Asn) c.787+4047G>A (n.787+4047G>A) c.2474G>A (p.Ser825Asn) | |
| 8 | g.54626335G>C | CA370993878 | RP1 | c.2453G>C (p.Ser818Thr) c.787+4047G>C (n.787+4047G>C) c.2474G>C (p.Ser825Thr) | |
| 8 | g.54626335G>T | CA370993877 | RP1 | c.2453G>T (p.Ser818Ile) c.787+4047G>T (n.787+4047G>T) c.2474G>T (p.Ser825Ile) | ClinVar dbSNP |
| 8 | g.54626336T>A | CA370993879 | RP1 | c.2454T>A (p.Ser818Arg) c.787+4048T>A (n.787+4048T>A) c.2475T>A (p.Ser825Arg) | |
| 8 | g.54626336T>C | CA177237183 | RP1 | c.2454T>C (p.Ser818=) c.787+4048T>C (n.787+4048T>C) c.2475T>C (p.Ser825=) | dbSNP gnomAD v4 |
| 8 | g.54626336T>G | CA370993880 | RP1 | c.2454T>G (p.Ser818Arg) c.787+4048T>G (n.787+4048T>G) c.2475T>G (p.Ser825Arg) | |
| 8 | g.54626336T= | CA1785188275 | RP1 | c.2454T= (p.Ser818=) c.787+4048T= (n.787+4048T=) c.2475T= (p.Ser825=) | |
| 8 | g.54626338del | CA2580078392 | RP1 | c.2456del (p.Leu819TyrfsTer29) c.787+4050del (n.787+4050del) c.2477del (p.Leu826TyrfsTer29) | ClinVar gnomAD v4 |
| 8 | g.54626337T>A | CA370993881 | RP1 | c.2455T>A (p.Leu819Ile) c.787+4049T>A (n.787+4049T>A) c.2476T>A (p.Leu826Ile) | |
| 8 | g.54626337T>C | CA461098828 | RP1 | c.2455T>C (p.Leu819=) c.787+4049T>C (n.787+4049T>C) c.2476T>C (p.Leu826=) | |
| 8 | g.54626337T>G | CA4751537 | RP1 | c.2455T>G (p.Leu819Val) c.787+4049T>G (n.787+4049T>G) c.2476T>G (p.Leu826Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626337T= | CA1785188276 | RP1 | c.2455T= (p.Leu819=) c.787+4049T= (n.787+4049T=) c.2476T= (p.Leu826=) | |
| 8 | g.54626338T>A | CA370993882 | RP1 | c.2456T>A (p.Leu819Ter) c.787+4050T>A (n.787+4050T>A) c.2477T>A (p.Leu826Ter) | COSMIC |
| 8 | g.54626338T>C | CA370993883 | RP1 | c.2456T>C (p.Leu819Ser) c.787+4050T>C (n.787+4050T>C) c.2477T>C (p.Leu826Ser) | |
| 8 | g.54626338T>G | CA370993884 | RP1 | c.2456T>G (p.Leu819Ter) c.787+4050T>G (n.787+4050T>G) c.2477T>G (p.Leu826Ter) | |
| 8 | g.54626339del | CA2687301834 | RP1 | c.2457del (p.Leu819PhefsTer29) c.787+4051del (n.787+4051del) c.2478del (p.Leu826PhefsTer29) | gnomAD v4 |
| 8 | g.54626339A= | CA1785188277 | RP1 | c.2457A= (p.Leu819=) c.787+4051A= (n.787+4051A=) c.2478A= (p.Leu826=) | |
| 8 | g.54626339A>C | CA370993885 | RP1 | c.2457A>C (p.Leu819Phe) c.787+4051A>C (n.787+4051A>C) c.2478A>C (p.Leu826Phe) | |
| 8 | g.54626339A>G | CA461098829 | RP1 | c.2457A>G (p.Leu819=) c.787+4051A>G (n.787+4051A>G) c.2478A>G (p.Leu826=) | |
| 8 | g.54626339A>T | CA370993886 | RP1 | c.2457A>T (p.Leu819Phe) c.787+4051A>T (n.787+4051A>T) c.2478A>T (p.Leu826Phe) | |
| 8 | g.54626340T>A | CA370993887 | RP1 | c.2458T>A (p.Phe820Ile) c.787+4052T>A (n.787+4052T>A) c.2479T>A (p.Phe827Ile) | |
| 8 | g.54626340T>C | CA370993888 | RP1 | c.2458T>C (p.Phe820Leu) c.787+4052T>C (n.787+4052T>C) c.2479T>C (p.Phe827Leu) | |
| 8 | g.54626340T>G | CA370993889 | RP1 | c.2458T>G (p.Phe820Val) c.787+4052T>G (n.787+4052T>G) c.2479T>G (p.Phe827Val) | |
| 8 | g.54626342dup | CA177237187 | RP1 | c.2460dup (p.His821SerfsTer4) c.787+4054dup (n.787+4054dup) c.2481dup (p.His828SerfsTer4) | dbSNP |
| 8 | g.54626341T>A | CA370993892 | RP1 | c.2459T>A (p.Phe820Tyr) c.787+4053T>A (n.787+4053T>A) c.2480T>A (p.Phe827Tyr) | |
| 8 | g.54626341T>C | CA370993891 | RP1 | c.2459T>C (p.Phe820Ser) c.787+4053T>C (n.787+4053T>C) c.2480T>C (p.Phe827Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626341T>G | CA370993890 | RP1 | c.2459T>G (p.Phe820Cys) c.787+4053T>G (n.787+4053T>G) c.2480T>G (p.Phe827Cys) | |
| 8 | g.54626341T= | CA1785188278 | RP1 | c.2459T= (p.Phe820=) c.787+4053T= (n.787+4053T=) c.2480T= (p.Phe827=) | |
| 8 | g.54626342T>A | CA370993893 | RP1 | c.2460T>A (p.Phe820Leu) c.787+4054T>A (n.787+4054T>A) c.2481T>A (p.Phe827Leu) | |
| 8 | g.54626342T>C | CA461098834 | RP1 | c.2460T>C (p.Phe820=) c.787+4054T>C (n.787+4054T>C) c.2481T>C (p.Phe827=) | |
| 8 | g.54626342T>G | CA370993894 | RP1 | c.2460T>G (p.Phe820Leu) c.787+4054T>G (n.787+4054T>G) c.2481T>G (p.Phe827Leu) |