| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54626357C>A | CA461098853 | RP1 | c.2475C>A (p.Ile825=) c.787+4069C>A (n.787+4069C>A) c.2496C>A (p.Ile832=) | |
| 8 | g.54626357C>G | CA370993926 | RP1 | c.2475C>G (p.Ile825Met) c.787+4069C>G (n.787+4069C>G) c.2496C>G (p.Ile832Met) | |
| 8 | g.54626357C>T | CA461098856 | RP1 | c.2475C>T (p.Ile825=) c.787+4069C>T (n.787+4069C>T) c.2496C>T (p.Ile832=) | gnomAD v4 COSMIC |
| 8 | g.54626358_54626364del | CA2687301836 | RP1 | c.2476_2482del (p.Leu826LysfsTer20) c.787+4070_787+4076del (n.787+4070_787+4076del) c.2497_2503del (p.Leu833LysfsTer20) | gnomAD v4 |
| 8 | g.54626358C>A | CA370993929 | RP1 | c.2476C>A (p.Leu826Ile) c.787+4070C>A (n.787+4070C>A) c.2497C>A (p.Leu833Ile) | |
| 8 | g.54626358C>G | CA370993928 | RP1 | c.2476C>G (p.Leu826Val) c.787+4070C>G (n.787+4070C>G) c.2497C>G (p.Leu833Val) | |
| 8 | g.54626358C>T | CA370993927 | RP1 | c.2476C>T (p.Leu826Phe) c.787+4070C>T (n.787+4070C>T) c.2497C>T (p.Leu833Phe) | |
| 8 | g.54626359T>A | CA370993930 | RP1 | c.2477T>A (p.Leu826His) c.787+4071T>A (n.787+4071T>A) c.2498T>A (p.Leu833His) | |
| 8 | g.54626359T>C | CA370993932 | RP1 | c.2477T>C (p.Leu826Pro) c.787+4071T>C (n.787+4071T>C) c.2498T>C (p.Leu833Pro) | |
| 8 | g.54626359T>G | CA370993931 | RP1 | c.2477T>G (p.Leu826Arg) c.787+4071T>G (n.787+4071T>G) c.2498T>G (p.Leu833Arg) | |
| 8 | g.54626360T>A | CA461098859 | RP1 | c.2478T>A (p.Leu826=) c.787+4072T>A (n.787+4072T>A) c.2499T>A (p.Leu833=) | |
| 8 | g.54626360T>C | CA177237201 | RP1 | c.2478T>C (p.Leu826=) c.787+4072T>C (n.787+4072T>C) c.2499T>C (p.Leu833=) | ClinVar dbSNP |
| 8 | g.54626360T>G | CA461098861 | RP1 | c.2478T>G (p.Leu826=) c.787+4072T>G (n.787+4072T>G) c.2499T>G (p.Leu833=) | |
| 8 | g.54626360T= | CA1785188286 | RP1 | c.2478T= (p.Leu826=) c.787+4072T= (n.787+4072T=) c.2499T= (p.Leu833=) | |
| 8 | g.54626361G>A | CA370993933 | RP1 | c.2479G>A (p.Glu827Lys) c.787+4073G>A (n.787+4073G>A) c.2500G>A (p.Glu834Lys) | |
| 8 | g.54626361G>C | CA4751543 | RP1 | c.2479G>C (p.Glu827Gln) c.787+4073G>C (n.787+4073G>C) c.2500G>C (p.Glu834Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626361G= | CA1785188287 | RP1 | c.2479G= (p.Glu827=) c.787+4073G= (n.787+4073G=) c.2500G= (p.Glu834=) | |
| 8 | g.54626361G>T | CA370993934 | RP1 | c.2479G>T (p.Glu827Ter) c.787+4073G>T (n.787+4073G>T) c.2500G>T (p.Glu834Ter) | gnomAD v4 |
| 8 | g.54626362A>C | CA370993935 | RP1 | c.2480A>C (p.Glu827Ala) c.787+4074A>C (n.787+4074A>C) c.2501A>C (p.Glu834Ala) | |
| 8 | g.54626362A>G | CA370993936 | RP1 | c.2480A>G (p.Glu827Gly) c.787+4074A>G (n.787+4074A>G) c.2501A>G (p.Glu834Gly) | |
| 8 | g.54626362A>T | CA370993937 | RP1 | c.2480A>T (p.Glu827Val) c.787+4074A>T (n.787+4074A>T) c.2501A>T (p.Glu834Val) | |
| 8 | g.54626363G>A | CA461098865 | RP1 | c.2481G>A (p.Glu827=) c.787+4075G>A (n.787+4075G>A) c.2502G>A (p.Glu834=) | |
| 8 | g.54626363G>C | CA370993938 | RP1 | c.2481G>C (p.Glu827Asp) c.787+4075G>C (n.787+4075G>C) c.2502G>C (p.Glu834Asp) | |
| 8 | g.54626363G>T | CA370993939 | RP1 | c.2481G>T (p.Glu827Asp) c.787+4075G>T (n.787+4075G>T) c.2502G>T (p.Glu834Asp) | |
| 8 | g.54626364del | CA2780387018 | RP1 | c.2482del (p.Gln828LysfsTer20) c.787+4076del (n.787+4076del) c.2503del (p.Gln835LysfsTer20) | |
| 8 | g.54626364C>A | CA370993940 | RP1 | c.2482C>A (p.Gln828Lys) c.787+4076C>A (n.787+4076C>A) c.2503C>A (p.Gln835Lys) | gnomAD v4 |
| 8 | g.54626364C>G | CA370993941 | RP1 | c.2482C>G (p.Gln828Glu) c.787+4076C>G (n.787+4076C>G) c.2503C>G (p.Gln835Glu) | |
| 8 | g.54626364C>T | CA370993942 | RP1 | c.2482C>T (p.Gln828Ter) c.787+4076C>T (n.787+4076C>T) c.2503C>T (p.Gln835Ter) | ClinVar gnomAD v4 |
| 8 | g.54626365A= | CA1785188288 | RP1 | c.2483A= (p.Gln828=) c.787+4077A= (n.787+4077A=) c.2504A= (p.Gln835=) | |
| 8 | g.54626365A>C | CA4751544 | RP1 | c.2483A>C (p.Gln828Pro) c.787+4077A>C (n.787+4077A>C) c.2504A>C (p.Gln835Pro) | dbSNP ExAC gnomAD v2 |
| 8 | g.54626365A>G | CA370993943 | RP1 | c.2483A>G (p.Gln828Arg) c.787+4077A>G (n.787+4077A>G) c.2504A>G (p.Gln835Arg) | |
| 8 | g.54626365A>T | CA370993944 | RP1 | c.2483A>T (p.Gln828Leu) c.787+4077A>T (n.787+4077A>T) c.2504A>T (p.Gln835Leu) | |
| 8 | g.54626366A>C | CA370993945 | RP1 | c.2484A>C (p.Gln828His) c.787+4078A>C (n.787+4078A>C) c.2505A>C (p.Gln835His) | |
| 8 | g.54626366A>G | CA461098916 | RP1 | c.2484A>G (p.Gln828=) c.787+4078A>G (n.787+4078A>G) c.2505A>G (p.Gln835=) | |
| 8 | g.54626366A>T | CA370993946 | RP1 | c.2484A>T (p.Gln828His) c.787+4078A>T (n.787+4078A>T) c.2505A>T (p.Gln835His) | |
| 8 | g.54626367A>C | CA370993947 | RP1 | c.2485A>C (p.Lys829Gln) c.787+4079A>C (n.787+4079A>C) c.2506A>C (p.Lys836Gln) | |
| 8 | g.54626367A>G | CA370993948 | RP1 | c.2485A>G (p.Lys829Glu) c.787+4079A>G (n.787+4079A>G) c.2506A>G (p.Lys836Glu) | |
| 8 | g.54626367A>T | CA370993949 | RP1 | c.2485A>T (p.Lys829Ter) c.787+4079A>T (n.787+4079A>T) c.2506A>T (p.Lys836Ter) | |
| 8 | g.54626368A>C | CA370993950 | RP1 | c.2486A>C (p.Lys829Thr) c.787+4080A>C (n.787+4080A>C) c.2507A>C (p.Lys836Thr) | |
| 8 | g.54626368A>G | CA370993951 | RP1 | c.2486A>G (p.Lys829Arg) c.787+4080A>G (n.787+4080A>G) c.2507A>G (p.Lys836Arg) | |
| 8 | g.54626368A>T | CA370993952 | RP1 | c.2486A>T (p.Lys829Ile) c.787+4080A>T (n.787+4080A>T) c.2507A>T (p.Lys836Ile) | |
| 8 | g.54626369A>C | CA370993953 | RP1 | c.2487A>C (p.Lys829Asn) c.787+4081A>C (n.787+4081A>C) c.2508A>C (p.Lys836Asn) | |
| 8 | g.54626369A>G | CA461098917 | RP1 | c.2487A>G (p.Lys829=) c.787+4081A>G (n.787+4081A>G) c.2508A>G (p.Lys836=) | |
| 8 | g.54626369A>T | CA370993954 | RP1 | c.2487A>T (p.Lys829Asn) c.787+4081A>T (n.787+4081A>T) c.2508A>T (p.Lys836Asn) | |
| 8 | g.54626370C>A | CA370993957 | RP1 | c.2488C>A (p.Pro830Thr) c.787+4082C>A (n.787+4082C>A) c.2509C>A (p.Pro837Thr) | |
| 8 | g.54626370C>G | CA370993956 | RP1 | c.2488C>G (p.Pro830Ala) c.787+4082C>G (n.787+4082C>G) c.2509C>G (p.Pro837Ala) | |
| 8 | g.54626370C>T | CA370993955 | RP1 | c.2488C>T (p.Pro830Ser) c.787+4082C>T (n.787+4082C>T) c.2509C>T (p.Pro837Ser) | gnomAD v4 |
| 8 | g.54626371C>A | CA370993958 | RP1 | c.2489C>A (p.Pro830His) c.787+4083C>A (n.787+4083C>A) c.2510C>A (p.Pro837His) | |
| 8 | g.54626371C>G | CA370993959 | RP1 | c.2489C>G (p.Pro830Arg) c.787+4083C>G (n.787+4083C>G) c.2510C>G (p.Pro837Arg) | |
| 8 | g.54626371C>T | CA370993960 | RP1 | c.2489C>T (p.Pro830Leu) c.787+4083C>T (n.787+4083C>T) c.2510C>T (p.Pro837Leu) | |
| 8 | g.54626372C>A | CA461098918 | RP1 | c.2490C>A (p.Pro830=) c.787+4084C>A (n.787+4084C>A) c.2511C>A (p.Pro837=) | |
| 8 | g.54626372C>G | CA461098920 | RP1 | c.2490C>G (p.Pro830=) c.787+4084C>G (n.787+4084C>G) c.2511C>G (p.Pro837=) | |
| 8 | g.54626372C>T | CA461098919 | RP1 | c.2490C>T (p.Pro830=) c.787+4084C>T (n.787+4084C>T) c.2511C>T (p.Pro837=) | |
| 8 | g.54626373A= | CA1785188289 | RP1 | c.2491A= (p.Lys831=) c.787+4085A= (n.787+4085A=) c.2512A= (p.Lys838=) | |
| 8 | g.54626373A>C | CA370993961 | RP1 | c.2491A>C (p.Lys831Gln) c.787+4085A>C (n.787+4085A>C) c.2512A>C (p.Lys838Gln) | |
| 8 | g.54626373A>G | CA4751545 | RP1 | c.2491A>G (p.Lys831Glu) c.787+4085A>G (n.787+4085A>G) c.2512A>G (p.Lys838Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626373A>T | CA370993962 | RP1 | c.2491A>T (p.Lys831Ter) c.787+4085A>T (n.787+4085A>T) c.2512A>T (p.Lys838Ter) | |
| 8 | g.54626374A= | CA1785188290 | RP1 | c.2492A= (p.Lys831=) c.787+4086A= (n.787+4086A=) c.2513A= (p.Lys838=) | |
| 8 | g.54626374A>C | CA370993965 | RP1 | c.2492A>C (p.Lys831Thr) c.787+4086A>C (n.787+4086A>C) c.2513A>C (p.Lys838Thr) | |
| 8 | g.54626374A>G | CA370993963 | RP1 | c.2492A>G (p.Lys831Arg) c.787+4086A>G (n.787+4086A>G) c.2513A>G (p.Lys838Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626374A>T | CA370993964 | RP1 | c.2492A>T (p.Lys831Ile) c.787+4086A>T (n.787+4086A>T) c.2513A>T (p.Lys838Ile) | |
| 8 | g.54626375A= | CA1785188291 | RP1 | c.2493A= (p.Lys831=) c.787+4087A= (n.787+4087A=) c.2514A= (p.Lys838=) | |
| 8 | g.54626375A>C | CA370993966 | RP1 | c.2493A>C (p.Lys831Asn) c.787+4087A>C (n.787+4087A>C) c.2514A>C (p.Lys838Asn) | |
| 8 | g.54626375A>G | CA461098921 | RP1 | c.2493A>G (p.Lys831=) c.787+4087A>G (n.787+4087A>G) c.2514A>G (p.Lys838=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626375A>T | CA370993967 | RP1 | c.2493A>T (p.Lys831Asn) c.787+4087A>T (n.787+4087A>T) c.2514A>T (p.Lys838Asn) | |
| 8 | g.54626376G>A | CA370993968 | RP1 | c.2494G>A (p.Asp832Asn) c.787+4088G>A (n.787+4088G>A) c.2515G>A (p.Asp839Asn) | COSMIC |
| 8 | g.54626376G>C | CA370993969 | RP1 | c.2494G>C (p.Asp832His) c.787+4088G>C (n.787+4088G>C) c.2515G>C (p.Asp839His) | |
| 8 | g.54626376G= | CA1785188292 | RP1 | c.2494G= (p.Asp832=) c.787+4088G= (n.787+4088G=) c.2515G= (p.Asp839=) | |
| 8 | g.54626376G>T | CA4751546 | RP1 | c.2494G>T (p.Asp832Tyr) c.787+4088G>T (n.787+4088G>T) c.2515G>T (p.Asp839Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626377A>C | CA370993970 | RP1 | c.2495A>C (p.Asp832Ala) c.787+4089A>C (n.787+4089A>C) c.2516A>C (p.Asp839Ala) | |
| 8 | g.54626377A>G | CA370993972 | RP1 | c.2495A>G (p.Asp832Gly) c.787+4089A>G (n.787+4089A>G) c.2516A>G (p.Asp839Gly) | |
| 8 | g.54626377A>T | CA370993971 | RP1 | c.2495A>T (p.Asp832Val) c.787+4089A>T (n.787+4089A>T) c.2516A>T (p.Asp839Val) | |
| 8 | g.54626378T>A | CA370993973 | RP1 | c.2496T>A (p.Asp832Glu) c.787+4090T>A (n.787+4090T>A) c.2517T>A (p.Asp839Glu) | gnomAD v4 |
| 8 | g.54626378T>C | CA4751547 | RP1 | c.2496T>C (p.Asp832=) c.787+4090T>C (n.787+4090T>C) c.2517T>C (p.Asp839=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626378T>G | CA370993974 | RP1 | c.2496T>G (p.Asp832Glu) c.787+4090T>G (n.787+4090T>G) c.2517T>G (p.Asp839Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626378T= | CA1785188293 | RP1 | c.2496T= (p.Asp832=) c.787+4090T= (n.787+4090T=) c.2517T= (p.Asp839=) | |
| 8 | g.54626379T>A | CA370993975 | RP1 | c.2497T>A (p.Phe833Ile) c.787+4091T>A (n.787+4091T>A) c.2518T>A (p.Phe840Ile) | COSMIC |
| 8 | g.54626379T>C | CA4751548 | RP1 | c.2497T>C (p.Phe833Leu) c.787+4091T>C (n.787+4091T>C) c.2518T>C (p.Phe840Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626379T>G | CA370993976 | RP1 | c.2497T>G (p.Phe833Val) c.787+4091T>G (n.787+4091T>G) c.2518T>G (p.Phe840Val) | dbSNP |
| 8 | g.54626379T= | CA1785188294 | RP1 | c.2497T= (p.Phe833=) c.787+4091T= (n.787+4091T=) c.2518T= (p.Phe840=) | |
| 8 | g.54626380T>A | CA370993977 | RP1 | c.2498T>A (p.Phe833Tyr) c.787+4092T>A (n.787+4092T>A) c.2519T>A (p.Phe840Tyr) | |
| 8 | g.54626380T>C | CA370993978 | RP1 | c.2498T>C (p.Phe833Ser) c.787+4092T>C (n.787+4092T>C) c.2519T>C (p.Phe840Ser) | |
| 8 | g.54626380T>G | CA4751549 | RP1 | c.2498T>G (p.Phe833Cys) c.787+4092T>G (n.787+4092T>G) c.2519T>G (p.Phe840Cys) | dbSNP ExAC |
| 8 | g.54626380T= | CA1785188295 | RP1 | c.2498T= (p.Phe833=) c.787+4092T= (n.787+4092T=) c.2519T= (p.Phe840=) | |
| 8 | g.54626381T>A | CA370993979 | RP1 | c.2499T>A (p.Phe833Leu) c.787+4093T>A (n.787+4093T>A) c.2520T>A (p.Phe840Leu) | |
| 8 | g.54626381T>C | CA461098922 | RP1 | c.2499T>C (p.Phe833=) c.787+4093T>C (n.787+4093T>C) c.2520T>C (p.Phe840=) | |
| 8 | g.54626381T>G | CA370993980 | RP1 | c.2499T>G (p.Phe833Leu) c.787+4093T>G (n.787+4093T>G) c.2520T>G (p.Phe840Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626381T= | CA1785188296 | RP1 | c.2499T= (p.Phe833=) c.787+4093T= (n.787+4093T=) c.2520T= (p.Phe840=) | |
| 8 | g.54626382T>A | CA370993982 | RP1 | c.2500T>A (p.Tyr834Asn) c.787+4094T>A (n.787+4094T>A) c.2521T>A (p.Tyr841Asn) | |
| 8 | g.54626382T>C | CA370993983 | RP1 | c.2500T>C (p.Tyr834His) c.787+4094T>C (n.787+4094T>C) c.2521T>C (p.Tyr841His) | |
| 8 | g.54626382T>G | CA370993981 | RP1 | c.2500T>G (p.Tyr834Asp) c.787+4094T>G (n.787+4094T>G) c.2521T>G (p.Tyr841Asp) | |
| 8 | g.54626383A= | CA1785188297 | RP1 | c.2501A= (p.Tyr834=) c.787+4095A= (n.787+4095A=) c.2522A= (p.Tyr841=) | |
| 8 | g.54626383A>C | CA370993986 | RP1 | c.2501A>C (p.Tyr834Ser) c.787+4095A>C (n.787+4095A>C) c.2522A>C (p.Tyr841Ser) | |
| 8 | g.54626383A>G | CA370993984 | RP1 | c.2501A>G (p.Tyr834Cys) c.787+4095A>G (n.787+4095A>G) c.2522A>G (p.Tyr841Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626383A>T | CA370993985 | RP1 | c.2501A>T (p.Tyr834Phe) c.787+4095A>T (n.787+4095A>T) c.2522A>T (p.Tyr841Phe) | |
| 8 | g.54626384T>A | CA370993987 | RP1 | c.2502T>A (p.Tyr834Ter) c.787+4096T>A (n.787+4096T>A) c.2523T>A (p.Tyr841Ter) | |
| 8 | g.54626384T>C | CA4751550 | RP1 | c.2502T>C (p.Tyr834=) c.787+4096T>C (n.787+4096T>C) c.2523T>C (p.Tyr841=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626384T>G | CA370993988 | RP1 | c.2502T>G (p.Tyr834Ter) c.787+4096T>G (n.787+4096T>G) c.2523T>G (p.Tyr841Ter) | |
| 8 | g.54626384T= | CA1785188298 | RP1 | c.2502T= (p.Tyr834=) c.787+4096T= (n.787+4096T=) c.2523T= (p.Tyr841=) | |
| 8 | g.54626385G>A | CA370993991 | RP1 | c.2503G>A (p.Ala835Thr) c.787+4097G>A (n.787+4097G>A) c.2524G>A (p.Ala842Thr) | |
| 8 | g.54626385G>C | CA370993990 | RP1 | c.2503G>C (p.Ala835Pro) c.787+4097G>C (n.787+4097G>C) c.2524G>C (p.Ala842Pro) | |
| 8 | g.54626385G>T | CA370993989 | RP1 | c.2503G>T (p.Ala835Ser) c.787+4097G>T (n.787+4097G>T) c.2524G>T (p.Ala842Ser) | |
| 8 | g.54626386C>A | CA370993992 | RP1 | c.2504C>A (p.Ala835Glu) c.787+4098C>A (n.787+4098C>A) c.2525C>A (p.Ala842Glu) | |
| 8 | g.54626386C>G | CA370993993 | RP1 | c.2504C>G (p.Ala835Gly) c.787+4098C>G (n.787+4098C>G) c.2525C>G (p.Ala842Gly) | |
| 8 | g.54626386C>T | CA370993994 | RP1 | c.2504C>T (p.Ala835Val) c.787+4098C>T (n.787+4098C>T) c.2525C>T (p.Ala842Val) | gnomAD v4 |
| 8 | g.54626387A>C | CA461098923 | RP1 | c.2505A>C (p.Ala835=) c.787+4099A>C (n.787+4099A>C) c.2526A>C (p.Ala842=) | |
| 8 | g.54626387A>G | CA461098925 | RP1 | c.2505A>G (p.Ala835=) c.787+4099A>G (n.787+4099A>G) c.2526A>G (p.Ala842=) | gnomAD v4 |
| 8 | g.54626387A>T | CA461098924 | RP1 | c.2505A>T (p.Ala835=) c.787+4099A>T (n.787+4099A>T) c.2526A>T (p.Ala842=) | COSMIC |
| 8 | g.54626388C>A | CA370993995 | RP1 | c.2506C>A (p.Pro836Thr) c.787+4100C>A (n.787+4100C>A) c.2527C>A (p.Pro843Thr) | |
| 8 | g.54626388C>G | CA370993996 | RP1 | c.2506C>G (p.Pro836Ala) c.787+4100C>G (n.787+4100C>G) c.2527C>G (p.Pro843Ala) | |
| 8 | g.54626388C>T | CA370993997 | RP1 | c.2506C>T (p.Pro836Ser) c.787+4100C>T (n.787+4100C>T) c.2527C>T (p.Pro843Ser) | gnomAD v4 |
| 8 | g.54626389C>A | CA370993999 | RP1 | c.2507C>A (p.Pro836Gln) c.787+4101C>A (n.787+4101C>A) c.2528C>A (p.Pro843Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626389C= | CA1785188299 | RP1 | c.2507C= (p.Pro836=) c.787+4101C= (n.787+4101C=) c.2528C= (p.Pro843=) | |
| 8 | g.54626389C>G | CA370993998 | RP1 | c.2507C>G (p.Pro836Arg) c.787+4101C>G (n.787+4101C>G) c.2528C>G (p.Pro843Arg) | gnomAD v4 |
| 8 | g.54626389C>T | CA4751551 | RP1 | c.2507C>T (p.Pro836Leu) c.787+4101C>T (n.787+4101C>T) c.2528C>T (p.Pro843Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626390G>A | CA4751552 | RP1 | c.2508G>A (p.Pro836=) c.787+4102G>A (n.787+4102G>A) c.2529G>A (p.Pro843=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626390G>C | CA461098926 | RP1 | c.2508G>C (p.Pro836=) c.787+4102G>C (n.787+4102G>C) c.2529G>C (p.Pro843=) | |
| 8 | g.54626390G= | CA1785188300 | RP1 | c.2508G= (p.Pro836=) c.787+4102G= (n.787+4102G=) c.2529G= (p.Pro843=) | |
| 8 | g.54626390G>T | CA461098927 | RP1 | c.2508G>T (p.Pro836=) c.787+4102G>T (n.787+4102G>T) c.2529G>T (p.Pro843=) | gnomAD v4 COSMIC |
| 8 | g.54626391C>A | CA370994000 | RP1 | c.2509C>A (p.Gln837Lys) c.787+4103C>A (n.787+4103C>A) c.2530C>A (p.Gln844Lys) | |
| 8 | g.54626391C>G | CA370994001 | RP1 | c.2509C>G (p.Gln837Glu) c.787+4103C>G (n.787+4103C>G) c.2530C>G (p.Gln844Glu) | |
| 8 | g.54626391C>T | CA370994002 | RP1 | c.2509C>T (p.Gln837Ter) c.787+4103C>T (n.787+4103C>T) c.2530C>T (p.Gln844Ter) | |
| 8 | g.54626391_54626392delinsCA | CA1785188301 | RP1 | c.2509_2510delinsCA (p.Gln837=) c.787+4103_787+4104delinsCA (n.787+4103_787+4104delinsCA) c.2530_2531delinsCA (p.Gln844=) | |
| 8 | g.54626392A>C | CA370994003 | RP1 | c.2510A>C (p.Gln837Pro) c.787+4104A>C (n.787+4104A>C) c.2531A>C (p.Gln844Pro) | gnomAD v4 |
| 8 | g.54626392A>G | CA370994004 | RP1 | c.2510A>G (p.Gln837Arg) c.787+4104A>G (n.787+4104A>G) c.2531A>G (p.Gln844Arg) | |
| 8 | g.54626392A>T | CA370994005 | RP1 | c.2510A>T (p.Gln837Leu) c.787+4104A>T (n.787+4104A>T) c.2531A>T (p.Gln844Leu) | |
| 8 | g.54626393del | CA1785188302 | RP1 | c.2511del (p.Gln837HisfsTer11) c.787+4105del (n.787+4105del) c.2532del (p.Gln844HisfsTer11) | dbSNP |
| 8 | g.54626393A= | CA1785188303 | RP1 | c.2511A= (p.Gln837=) c.787+4105A= (n.787+4105A=) c.2532A= (p.Gln844=) | |
| 8 | g.54626393A>C | CA370994006 | RP1 | c.2511A>C (p.Gln837His) c.787+4105A>C (n.787+4105A>C) c.2532A>C (p.Gln844His) | gnomAD v4 |
| 8 | g.54626393A>G | CA4751553 | RP1 | c.2511A>G (p.Gln837=) c.787+4105A>G (n.787+4105A>G) c.2532A>G (p.Gln844=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626393A>T | CA370994007 | RP1 | c.2511A>T (p.Gln837His) c.787+4105A>T (n.787+4105A>T) c.2532A>T (p.Gln844His) | |
| 8 | g.54626394T>A | CA370994008 | RP1 | c.2512T>A (p.Ser838Thr) c.787+4106T>A (n.787+4106T>A) c.2533T>A (p.Ser845Thr) | |
| 8 | g.54626394T>C | CA370994009 | RP1 | c.2512T>C (p.Ser838Pro) c.787+4106T>C (n.787+4106T>C) c.2533T>C (p.Ser845Pro) | gnomAD v4 |
| 8 | g.54626394T>G | CA370994010 | RP1 | c.2512T>G (p.Ser838Ala) c.787+4106T>G (n.787+4106T>G) c.2533T>G (p.Ser845Ala) | |
| 8 | g.54626395C>A | CA370994011 | RP1 | c.2513C>A (p.Ser838Tyr) c.787+4107C>A (n.787+4107C>A) c.2534C>A (p.Ser845Tyr) | |
| 8 | g.54626395C>G | CA370994013 | RP1 | c.2513C>G (p.Ser838Cys) c.787+4107C>G (n.787+4107C>G) c.2534C>G (p.Ser845Cys) | |
| 8 | g.54626395C>T | CA370994012 | RP1 | c.2513C>T (p.Ser838Phe) c.787+4107C>T (n.787+4107C>T) c.2534C>T (p.Ser845Phe) | gnomAD v4 |
| 8 | g.54626396T>A | CA461098928 | RP1 | c.2514T>A (p.Ser838=) c.787+4108T>A (n.787+4108T>A) c.2535T>A (p.Ser845=) | |
| 8 | g.54626396T>C | CA461098929 | RP1 | c.2514T>C (p.Ser838=) c.787+4108T>C (n.787+4108T>C) c.2535T>C (p.Ser845=) | |
| 8 | g.54626396T>G | CA461098930 | RP1 | c.2514T>G (p.Ser838=) c.787+4108T>G (n.787+4108T>G) c.2535T>G (p.Ser845=) | |
| 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 |