| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 8 | g.54626343C>A | CA370993895 | RP1 | c.2461C>A (p.His821Asn) c.787+4055C>A (n.787+4055C>A) c.2482C>A (p.His828Asn) | |
| 8 | g.54626343C>G | CA370993896 | RP1 | c.2461C>G (p.His821Asp) c.787+4055C>G (n.787+4055C>G) c.2482C>G (p.His828Asp) | |
| 8 | g.54626343C>T | CA370993897 | RP1 | c.2461C>T (p.His821Tyr) c.787+4055C>T (n.787+4055C>T) c.2482C>T (p.His828Tyr) | COSMIC |
| 8 | g.54626344A>C | CA370993898 | RP1 | c.2462A>C (p.His821Pro) c.787+4056A>C (n.787+4056A>C) c.2483A>C (p.His828Pro) | |
| 8 | g.54626344A>G | CA370993899 | RP1 | c.2462A>G (p.His821Arg) c.787+4056A>G (n.787+4056A>G) c.2483A>G (p.His828Arg) | |
| 8 | g.54626344A>T | CA370993900 | RP1 | c.2462A>T (p.His821Leu) c.787+4056A>T (n.787+4056A>T) c.2483A>T (p.His828Leu) | |
| 8 | g.54626345T>A | CA370993901 | RP1 | c.2463T>A (p.His821Gln) c.787+4057T>A (n.787+4057T>A) c.2484T>A (p.His828Gln) | |
| 8 | g.54626345T>C | CA4751538 | RP1 | c.2463T>C (p.His821=) c.787+4057T>C (n.787+4057T>C) c.2484T>C (p.His828=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626345T>G | CA370993902 | RP1 | c.2463T>G (p.His821Gln) c.787+4057T>G (n.787+4057T>G) c.2484T>G (p.His828Gln) | |
| 8 | g.54626345T= | CA1785188279 | RP1 | c.2463T= (p.His821=) c.787+4057T= (n.787+4057T=) c.2484T= (p.His828=) | |
| 8 | g.54626346G>A | CA177237191 | RP1 | c.2464G>A (p.Val822Ile) c.787+4058G>A (n.787+4058G>A) c.2485G>A (p.Val829Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626346G>C | CA370993904 | RP1 | c.2464G>C (p.Val822Leu) c.787+4058G>C (n.787+4058G>C) c.2485G>C (p.Val829Leu) | |
| 8 | g.54626346G= | CA1785188280 | RP1 | c.2464G= (p.Val822=) c.787+4058G= (n.787+4058G=) c.2485G= (p.Val829=) | |
| 8 | g.54626346G>T | CA370993903 | RP1 | c.2464G>T (p.Val822Leu) c.787+4058G>T (n.787+4058G>T) c.2485G>T (p.Val829Leu) | |
| 8 | g.54626347T>A | CA4751539 | RP1 | c.2465T>A (p.Val822Glu) c.787+4059T>A (n.787+4059T>A) c.2486T>A (p.Val829Glu) | dbSNP ExAC gnomAD v4 |
| 8 | g.54626347T>C | CA370993905 | RP1 | c.2465T>C (p.Val822Ala) c.787+4059T>C (n.787+4059T>C) c.2486T>C (p.Val829Ala) | |
| 8 | g.54626347T>G | CA370993906 | RP1 | c.2465T>G (p.Val822Gly) c.787+4059T>G (n.787+4059T>G) c.2486T>G (p.Val829Gly) | |
| 8 | g.54626347T= | CA1785188281 | RP1 | c.2465T= (p.Val822=) c.787+4059T= (n.787+4059T=) c.2486T= (p.Val829=) | |
| 8 | g.54626348A>C | CA461098839 | RP1 | c.2466A>C (p.Val822=) c.787+4060A>C (n.787+4060A>C) c.2487A>C (p.Val829=) | |
| 8 | g.54626348A>G | CA461098840 | RP1 | c.2466A>G (p.Val822=) c.787+4060A>G (n.787+4060A>G) c.2487A>G (p.Val829=) | gnomAD v4 |
| 8 | g.54626348A>T | CA461098841 | RP1 | c.2466A>T (p.Val822=) c.787+4060A>T (n.787+4060A>T) c.2487A>T (p.Val829=) | |
| 8 | g.54626349T>A | CA370993907 | RP1 | c.2467T>A (p.Phe823Ile) c.787+4061T>A (n.787+4061T>A) c.2488T>A (p.Phe830Ile) | |
| 8 | g.54626349T>C | CA370993908 | RP1 | c.2467T>C (p.Phe823Leu) c.787+4061T>C (n.787+4061T>C) c.2488T>C (p.Phe830Leu) | |
| 8 | g.54626349T>G | CA370993909 | RP1 | c.2467T>G (p.Phe823Val) c.787+4061T>G (n.787+4061T>G) c.2488T>G (p.Phe830Val) | |
| 8 | g.54626350T>A | CA370993910 | RP1 | c.2468T>A (p.Phe823Tyr) c.787+4062T>A (n.787+4062T>A) c.2489T>A (p.Phe830Tyr) | |
| 8 | g.54626350T>C | CA370993911 | RP1 | c.2468T>C (p.Phe823Ser) c.787+4062T>C (n.787+4062T>C) c.2489T>C (p.Phe830Ser) | |
| 8 | g.54626350T>G | CA370993912 | RP1 | c.2468T>G (p.Phe823Cys) c.787+4062T>G (n.787+4062T>G) c.2489T>G (p.Phe830Cys) | |
| 8 | g.54626351T>A | CA370993913 | RP1 | c.2469T>A (p.Phe823Leu) c.787+4063T>A (n.787+4063T>A) c.2490T>A (p.Phe830Leu) | |
| 8 | g.54626351T>C | CA461098844 | RP1 | c.2469T>C (p.Phe823=) c.787+4063T>C (n.787+4063T>C) c.2490T>C (p.Phe830=) | |
| 8 | g.54626351T>G | CA370993914 | RP1 | c.2469T>G (p.Phe823Leu) c.787+4063T>G (n.787+4063T>G) c.2490T>G (p.Phe830Leu) | |
| 8 | g.54626352A>C | CA370993917 | RP1 | c.2470A>C (p.Asn824His) c.787+4064A>C (n.787+4064A>C) c.2491A>C (p.Asn831His) | |
| 8 | g.54626352A>G | CA370993916 | RP1 | c.2470A>G (p.Asn824Asp) c.787+4064A>G (n.787+4064A>G) c.2491A>G (p.Asn831Asp) | |
| 8 | g.54626352A>T | CA370993915 | RP1 | c.2470A>T (p.Asn824Tyr) c.787+4064A>T (n.787+4064A>T) c.2491A>T (p.Asn831Tyr) | gnomAD v4 |
| 8 | g.54626353A= | CA1785188282 | RP1 | c.2471A= (p.Asn824=) c.787+4065A= (n.787+4065A=) c.2492A= (p.Asn831=) | |
| 8 | g.54626353A>C | CA370993918 | RP1 | c.2471A>C (p.Asn824Thr) c.787+4065A>C (n.787+4065A>C) c.2492A>C (p.Asn831Thr) | |
| 8 | g.54626353A>G | CA4751540 | RP1 | c.2471A>G (p.Asn824Ser) c.787+4065A>G (n.787+4065A>G) c.2492A>G (p.Asn831Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626353A>T | CA370993919 | RP1 | c.2471A>T (p.Asn824Ile) c.787+4065A>T (n.787+4065A>T) c.2492A>T (p.Asn831Ile) | |
| 8 | g.54626354C>A | CA370993920 | RP1 | c.2472C>A (p.Asn824Lys) c.787+4066C>A (n.787+4066C>A) c.2493C>A (p.Asn831Lys) | gnomAD v4 |
| 8 | g.54626354C= | CA1785188283 | RP1 | c.2472C= (p.Asn824=) c.787+4066C= (n.787+4066C=) c.2493C= (p.Asn831=) | |
| 8 | g.54626354C>G | CA370993921 | RP1 | c.2472C>G (p.Asn824Lys) c.787+4066C>G (n.787+4066C>G) c.2493C>G (p.Asn831Lys) | |
| 8 | g.54626354C>T | CA461098849 | RP1 | c.2472C>T (p.Asn824=) c.787+4066C>T (n.787+4066C>T) c.2493C>T (p.Asn831=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626355del | CA2687301835 | RP1 | c.2473del (p.Ile825SerfsTer23) c.787+4067del (n.787+4067del) c.2494del (p.Ile832SerfsTer23) | gnomAD v4 |
| 8 | g.54626355A= | CA1785188284 | RP1 | c.2473A= (p.Ile825=) c.787+4067A= (n.787+4067A=) c.2494A= (p.Ile832=) | |
| 8 | g.54626355A>C | CA370993922 | RP1 | c.2473A>C (p.Ile825Leu) c.787+4067A>C (n.787+4067A>C) c.2494A>C (p.Ile832Leu) | |
| 8 | g.54626355A>G | CA370993923 | RP1 | c.2473A>G (p.Ile825Val) c.787+4067A>G (n.787+4067A>G) c.2494A>G (p.Ile832Val) | |
| 8 | g.54626355A>T | CA4751541 | RP1 | c.2473A>T (p.Ile825Phe) c.787+4067A>T (n.787+4067A>T) c.2494A>T (p.Ile832Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626355_54626356delinsTA | CA2580078393 | RP1 | c.2473_2474delinsTA (p.Ile825Tyr) c.787+4067_787+4068delinsTA (n.787+4067_787+4068delinsTA) c.2494_2495delinsTA (p.Ile832Tyr) | ClinVar |
| 8 | g.54626356T>A | CA4751542 | RP1 | c.2474T>A (p.Ile825Asn) c.787+4068T>A (n.787+4068T>A) c.2495T>A (p.Ile832Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626356T>C | CA370993924 | RP1 | c.2474T>C (p.Ile825Thr) c.787+4068T>C (n.787+4068T>C) c.2495T>C (p.Ile832Thr) | gnomAD v4 |
| 8 | g.54626356T>G | CA370993925 | RP1 | c.2474T>G (p.Ile825Ser) c.787+4068T>G (n.787+4068T>G) c.2495T>G (p.Ile832Ser) | |
| 8 | g.54626356T= | CA1785188285 | RP1 | c.2474T= (p.Ile825=) c.787+4068T= (n.787+4068T=) c.2495T= (p.Ile832=) | |
| 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) |