| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54626016A>C | CA370992805 | RP1 | c.2134A>C (p.Met712Leu) c.787+3728A>C (n.787+3728A>C) c.2155A>C (p.Met719Leu) | |
| 8 | g.54626016A>G | CA370992806 | RP1 | c.2134A>G (p.Met712Val) c.787+3728A>G (n.787+3728A>G) c.2155A>G (p.Met719Val) | |
| 8 | g.54626016A>T | CA370992807 | RP1 | c.2134A>T (p.Met712Leu) c.787+3728A>T (n.787+3728A>T) c.2155A>T (p.Met719Leu) | |
| 8 | g.54626016_54626017del | CA2529427246 | RP1 | c.2134_2135del (p.Met712AspfsTer7) c.787+3728_787+3729del (n.787+3728_787+3729del) c.2155_2156del (p.Met719AspfsTer7) | |
| 8 | g.54626017T>A | CA370992808 | RP1 | c.2135T>A (p.Met712Lys) c.787+3729T>A (n.787+3729T>A) c.2156T>A (p.Met719Lys) | |
| 8 | g.54626017T>C | CA4751482 | RP1 | c.2135T>C (p.Met712Thr) c.787+3729T>C (n.787+3729T>C) c.2156T>C (p.Met719Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626017T>G | CA370992809 | RP1 | c.2135T>G (p.Met712Arg) c.787+3729T>G (n.787+3729T>G) c.2156T>G (p.Met719Arg) | |
| 8 | g.54626017T= | CA1785188119 | RP1 | c.2135T= (p.Met712=) c.787+3729T= (n.787+3729T=) c.2156T= (p.Met719=) | |
| 8 | g.54626018G>A | CA4751483 | RP1 | c.2136G>A (p.Met712Ile) c.787+3730G>A (n.787+3730G>A) c.2157G>A (p.Met719Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626018G>C | CA370992810 | RP1 | c.2136G>C (p.Met712Ile) c.787+3730G>C (n.787+3730G>C) c.2157G>C (p.Met719Ile) | gnomAD v4 |
| 8 | g.54626018G= | CA1785188120 | RP1 | c.2136G= (p.Met712=) c.787+3730G= (n.787+3730G=) c.2157G= (p.Met719=) | |
| 8 | g.54626018G>T | CA370992811 | RP1 | c.2136G>T (p.Met712Ile) c.787+3730G>T (n.787+3730G>T) c.2157G>T (p.Met719Ile) | |
| 8 | g.54626018_54626019insCC | CA2567737805 | RP1 | c.2136_2137insCC (p.Ile713ProfsTer2) c.787+3730_787+3731insCC (n.787+3730_787+3731insCC) c.2157_2158insCC (p.Ile720ProfsTer2) | |
| 8 | g.54626019A>C | CA370992812 | RP1 | c.2137A>C (p.Ile713Leu) c.787+3731A>C (n.787+3731A>C) c.2158A>C (p.Ile720Leu) | |
| 8 | g.54626019A>G | CA370992813 | RP1 | c.2137A>G (p.Ile713Val) c.787+3731A>G (n.787+3731A>G) c.2158A>G (p.Ile720Val) | |
| 8 | g.54626019A>T | CA370992814 | RP1 | c.2137A>T (p.Ile713Leu) c.787+3731A>T (n.787+3731A>T) c.2158A>T (p.Ile720Leu) | |
| 8 | g.54626020T>A | CA370992816 | RP1 | c.2138T>A (p.Ile713Lys) c.787+3732T>A (n.787+3732T>A) c.2159T>A (p.Ile720Lys) | |
| 8 | g.54626020T>C | CA370992817 | RP1 | c.2138T>C (p.Ile713Thr) c.787+3732T>C (n.787+3732T>C) c.2159T>C (p.Ile720Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626020T>G | CA370992815 | RP1 | c.2138T>G (p.Ile713Arg) c.787+3732T>G (n.787+3732T>G) c.2159T>G (p.Ile720Arg) | |
| 8 | g.54626021A>C | CA461098649 | RP1 | c.2139A>C (p.Ile713=) c.787+3733A>C (n.787+3733A>C) c.2160A>C (p.Ile720=) | |
| 8 | g.54626021A>G | CA370992818 | RP1 | c.2139A>G (p.Ile713Met) c.787+3733A>G (n.787+3733A>G) c.2160A>G (p.Ile720Met) | gnomAD v4 |
| 8 | g.54626021A>T | CA461098650 | RP1 | c.2139A>T (p.Ile713=) c.787+3733A>T (n.787+3733A>T) c.2160A>T (p.Ile720=) | |
| 8 | g.54626022G>A | CA370992820 | RP1 | c.2140G>A (p.Val714Met) c.787+3734G>A (n.787+3734G>A) c.2161G>A (p.Val721Met) | |
| 8 | g.54626022G>C | CA370992819 | RP1 | c.2140G>C (p.Val714Leu) c.787+3734G>C (n.787+3734G>C) c.2161G>C (p.Val721Leu) | |
| 8 | g.54626022G>T | CA370992821 | RP1 | c.2140G>T (p.Val714Leu) c.787+3734G>T (n.787+3734G>T) c.2161G>T (p.Val721Leu) | gnomAD v4 |
| 8 | g.54626023T>A | CA370992822 | RP1 | c.2141T>A (p.Val714Glu) c.787+3735T>A (n.787+3735T>A) c.2162T>A (p.Val721Glu) | |
| 8 | g.54626023T>C | CA370992824 | RP1 | c.2141T>C (p.Val714Ala) c.787+3735T>C (n.787+3735T>C) c.2162T>C (p.Val721Ala) | |
| 8 | g.54626023T>G | CA370992823 | RP1 | c.2141T>G (p.Val714Gly) c.787+3735T>G (n.787+3735T>G) c.2162T>G (p.Val721Gly) | dbSNP |
| 8 | g.54626023T= | CA1785188121 | RP1 | c.2141T= (p.Val714=) c.787+3735T= (n.787+3735T=) c.2162T= (p.Val721=) | |
| 8 | g.54626024G>A | CA177237025 | RP1 | c.2142G>A (p.Val714=) c.787+3736G>A (n.787+3736G>A) c.2163G>A (p.Val721=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626024G>C | CA461098652 | RP1 | c.2142G>C (p.Val714=) c.787+3736G>C (n.787+3736G>C) c.2163G>C (p.Val721=) | |
| 8 | g.54626024G= | CA1785188122 | RP1 | c.2142G= (p.Val714=) c.787+3736G= (n.787+3736G=) c.2163G= (p.Val721=) | |
| 8 | g.54626024G>T | CA461098653 | RP1 | c.2142G>T (p.Val714=) c.787+3736G>T (n.787+3736G>T) c.2163G>T (p.Val721=) | |
| 8 | g.54626025C>A | CA370992825 | RP1 | c.2143C>A (p.Gln715Lys) c.787+3737C>A (n.787+3737C>A) c.2164C>A (p.Gln722Lys) | |
| 8 | g.54626025C>G | CA370992826 | RP1 | c.2143C>G (p.Gln715Glu) c.787+3737C>G (n.787+3737C>G) c.2164C>G (p.Gln722Glu) | |
| 8 | g.54626025C>T | CA370992827 | RP1 | c.2143C>T (p.Gln715Ter) c.787+3737C>T (n.787+3737C>T) c.2164C>T (p.Gln722Ter) | |
| 8 | g.54626026A>C | CA370992828 | RP1 | c.2144A>C (p.Gln715Pro) c.787+3738A>C (n.787+3738A>C) c.2165A>C (p.Gln722Pro) | |
| 8 | g.54626026A>G | CA370992829 | RP1 | c.2144A>G (p.Gln715Arg) c.787+3738A>G (n.787+3738A>G) c.2165A>G (p.Gln722Arg) | |
| 8 | g.54626026A>T | CA370992830 | RP1 | c.2144A>T (p.Gln715Leu) c.787+3738A>T (n.787+3738A>T) c.2165A>T (p.Gln722Leu) | |
| 8 | g.54626027A>C | CA370992831 | RP1 | c.2145A>C (p.Gln715His) c.787+3739A>C (n.787+3739A>C) c.2166A>C (p.Gln722His) | |
| 8 | g.54626027A>G | CA461098654 | RP1 | c.2145A>G (p.Gln715=) c.787+3739A>G (n.787+3739A>G) c.2166A>G (p.Gln722=) | |
| 8 | g.54626027A>T | CA370992832 | RP1 | c.2145A>T (p.Gln715His) c.787+3739A>T (n.787+3739A>T) c.2166A>T (p.Gln722His) | |
| 8 | g.54626028G>A | CA370992833 | RP1 | c.2146G>A (p.Asp716Asn) c.787+3740G>A (n.787+3740G>A) c.2167G>A (p.Asp723Asn) | |
| 8 | g.54626028G>C | CA370992834 | RP1 | c.2146G>C (p.Asp716His) c.787+3740G>C (n.787+3740G>C) c.2167G>C (p.Asp723His) | |
| 8 | g.54626028G>T | CA370992835 | RP1 | c.2146G>T (p.Asp716Tyr) c.787+3740G>T (n.787+3740G>T) c.2167G>T (p.Asp723Tyr) | |
| 8 | g.54626029A>C | CA370992836 | RP1 | c.2147A>C (p.Asp716Ala) c.787+3741A>C (n.787+3741A>C) c.2168A>C (p.Asp723Ala) | |
| 8 | g.54626029A>G | CA370992838 | RP1 | c.2147A>G (p.Asp716Gly) c.787+3741A>G (n.787+3741A>G) c.2168A>G (p.Asp723Gly) | |
| 8 | g.54626029A>T | CA370992837 | RP1 | c.2147A>T (p.Asp716Val) c.787+3741A>T (n.787+3741A>T) c.2168A>T (p.Asp723Val) | |
| 8 | g.54626030T>A | CA370992839 | RP1 | c.2148T>A (p.Asp716Glu) c.787+3742T>A (n.787+3742T>A) c.2169T>A (p.Asp723Glu) | |
| 8 | g.54626030T>C | CA4751484 | RP1 | c.2148T>C (p.Asp716=) c.787+3742T>C (n.787+3742T>C) c.2169T>C (p.Asp723=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626030T>G | CA370992840 | RP1 | c.2148T>G (p.Asp716Glu) c.787+3742T>G (n.787+3742T>G) c.2169T>G (p.Asp723Glu) | |
| 8 | g.54626030T= | CA1785188123 | RP1 | c.2148T= (p.Asp716=) c.787+3742T= (n.787+3742T=) c.2169T= (p.Asp723=) | |
| 8 | g.54626031T>A | CA370992841 | RP1 | c.2149T>A (p.Ser717Thr) c.787+3743T>A (n.787+3743T>A) c.2170T>A (p.Ser724Thr) | |
| 8 | g.54626031T>C | CA370992842 | RP1 | c.2149T>C (p.Ser717Pro) c.787+3743T>C (n.787+3743T>C) c.2170T>C (p.Ser724Pro) | |
| 8 | g.54626031T>G | CA370992843 | RP1 | c.2149T>G (p.Ser717Ala) c.787+3743T>G (n.787+3743T>G) c.2170T>G (p.Ser724Ala) | |
| 8 | g.54626032del | CA2580078388 | RP1 | c.2150del (p.Ser717Ter) c.787+3744del (n.787+3744del) c.2171del (p.Ser724Ter) | ClinVar |
| 8 | g.54626032C>A | CA370992844 | RP1 | c.2150C>A (p.Ser717Ter) c.787+3744C>A (n.787+3744C>A) c.2171C>A (p.Ser724Ter) | |
| 8 | g.54626032C= | CA1785188124 | RP1 | c.2150C= (p.Ser717=) c.787+3744C= (n.787+3744C=) c.2171C= (p.Ser724=) | |
| 8 | g.54626032C>G | CA370992845 | RP1 | c.2150C>G (p.Ser717Ter) c.787+3744C>G (n.787+3744C>G) c.2171C>G (p.Ser724Ter) | |
| 8 | g.54626032C>T | CA370992846 | RP1 | c.2150C>T (p.Ser717Leu) c.787+3744C>T (n.787+3744C>T) c.2171C>T (p.Ser724Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626033A>C | CA461098660 | RP1 | c.2151A>C (p.Ser717=) c.787+3745A>C (n.787+3745A>C) c.2172A>C (p.Ser724=) | |
| 8 | g.54626033A>G | CA461098661 | RP1 | c.2151A>G (p.Ser717=) c.787+3745A>G (n.787+3745A>G) c.2172A>G (p.Ser724=) | |
| 8 | g.54626033A>T | CA461098662 | RP1 | c.2151A>T (p.Ser717=) c.787+3745A>T (n.787+3745A>T) c.2172A>T (p.Ser724=) | |
| 8 | g.54626034G>A | CA370992848 | RP1 | c.2152G>A (p.Asp718Asn) c.787+3746G>A (n.787+3746G>A) c.2173G>A (p.Asp725Asn) | COSMIC |
| 8 | g.54626034G>C | CA370992849 | RP1 | c.2152G>C (p.Asp718His) c.787+3746G>C (n.787+3746G>C) c.2173G>C (p.Asp725His) | |
| 8 | g.54626034G>T | CA370992847 | RP1 | c.2152G>T (p.Asp718Tyr) c.787+3746G>T (n.787+3746G>T) c.2173G>T (p.Asp725Tyr) | |
| 8 | g.54626035A= | CA1785188125 | RP1 | c.2153A= (p.Asp718=) c.787+3747A= (n.787+3747A=) c.2174A= (p.Asp725=) | |
| 8 | g.54626035A>C | CA370992850 | RP1 | c.2153A>C (p.Asp718Ala) c.787+3747A>C (n.787+3747A>C) c.2174A>C (p.Asp725Ala) | |
| 8 | g.54626035A>G | CA370992851 | RP1 | c.2153A>G (p.Asp718Gly) c.787+3747A>G (n.787+3747A>G) c.2174A>G (p.Asp725Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626035A>T | CA370992852 | RP1 | c.2153A>T (p.Asp718Val) c.787+3747A>T (n.787+3747A>T) c.2174A>T (p.Asp725Val) | |
| 8 | g.54626036T>A | CA370992853 | RP1 | c.2154T>A (p.Asp718Glu) c.787+3748T>A (n.787+3748T>A) c.2175T>A (p.Asp725Glu) | |
| 8 | g.54626036T>C | CA461098667 | RP1 | c.2154T>C (p.Asp718=) c.787+3748T>C (n.787+3748T>C) c.2175T>C (p.Asp725=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626036T>G | CA370992854 | RP1 | c.2154T>G (p.Asp718Glu) c.787+3748T>G (n.787+3748T>G) c.2175T>G (p.Asp725Glu) | |
| 8 | g.54626036T= | CA1785188126 | RP1 | c.2154T= (p.Asp718=) c.787+3748T= (n.787+3748T=) c.2175T= (p.Asp725=) | |
| 8 | g.54626037A>C | CA370992857 | RP1 | c.2155A>C (p.Ser719Arg) c.787+3749A>C (n.787+3749A>C) c.2176A>C (p.Ser726Arg) | |
| 8 | g.54626037A>G | CA370992855 | RP1 | c.2155A>G (p.Ser719Gly) c.787+3749A>G (n.787+3749A>G) c.2176A>G (p.Ser726Gly) | |
| 8 | g.54626037A>T | CA370992856 | RP1 | c.2155A>T (p.Ser719Cys) c.787+3749A>T (n.787+3749A>T) c.2176A>T (p.Ser726Cys) | |
| 8 | g.54626038G>A | CA370992858 | RP1 | c.2156G>A (p.Ser719Asn) c.787+3750G>A (n.787+3750G>A) c.2177G>A (p.Ser726Asn) | |
| 8 | g.54626038G>C | CA4751485 | RP1 | c.2156G>C (p.Ser719Thr) c.787+3750G>C (n.787+3750G>C) c.2177G>C (p.Ser726Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626038G= | CA1785188127 | RP1 | c.2156G= (p.Ser719=) c.787+3750G= (n.787+3750G=) c.2177G= (p.Ser726=) | |
| 8 | g.54626038G>T | CA370992859 | RP1 | c.2156G>T (p.Ser719Ile) c.787+3750G>T (n.787+3750G>T) c.2177G>T (p.Ser726Ile) | |
| 8 | g.54626039_54626138del | CA2740095044 | RP1 | c.2157_2256del (p.Ser719ArgfsTer11) c.787+3751_787+3850del (n.787+3751_787+3850del) c.2178_2277del (p.Ser726ArgfsTer11) | ClinVar |
| 8 | g.54626039T>A | CA370992860 | RP1 | c.2157T>A (p.Ser719Arg) c.787+3751T>A (n.787+3751T>A) c.2178T>A (p.Ser726Arg) | |
| 8 | g.54626039T>C | CA461098670 | RP1 | c.2157T>C (p.Ser719=) c.787+3751T>C (n.787+3751T>C) c.2178T>C (p.Ser726=) | |
| 8 | g.54626039T>G | CA370992861 | RP1 | c.2157T>G (p.Ser719Arg) c.787+3751T>G (n.787+3751T>G) c.2178T>G (p.Ser726Arg) | |
| 8 | g.54626039_54626040delinsTC | CA1785188128 | RP1 | c.2157_2158delinsTC (p.Ser719=) c.787+3751_787+3752delinsTC (n.787+3751_787+3752delinsTC) c.2178_2179delinsTC (p.Ser726=) | |
| 8 | g.54626040C>A | CA370992862 | RP1 | c.2158C>A (p.Pro720Thr) c.787+3752C>A (n.787+3752C>A) c.2179C>A (p.Pro727Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626040C= | CA1785188129 | RP1 | c.2158C= (p.Pro720=) c.787+3752C= (n.787+3752C=) c.2179C= (p.Pro727=) | |
| 8 | g.54626040C>G | CA370992864 | RP1 | c.2158C>G (p.Pro720Ala) c.787+3752C>G (n.787+3752C>G) c.2179C>G (p.Pro727Ala) | |
| 8 | g.54626040C>T | CA370992863 | RP1 | c.2158C>T (p.Pro720Ser) c.787+3752C>T (n.787+3752C>T) c.2179C>T (p.Pro727Ser) | dbSNP COSMIC |
| 8 | g.54626043del | CA4751486 | RP1 | c.2161del (p.Gly723GlufsTer15) c.787+3755del (n.787+3755del) c.2182del (p.Gly730GlufsTer15) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.54626041C>A | CA370992865 | RP1 | c.2159C>A (p.Pro720His) c.787+3753C>A (n.787+3753C>A) c.2180C>A (p.Pro727His) | dbSNP |
| 8 | g.54626041C= | CA1785188130 | RP1 | c.2159C= (p.Pro720=) c.787+3753C= (n.787+3753C=) c.2180C= (p.Pro727=) | |
| 8 | g.54626041C>G | CA370992866 | RP1 | c.2159C>G (p.Pro720Arg) c.787+3753C>G (n.787+3753C>G) c.2180C>G (p.Pro727Arg) | dbSNP |
| 8 | g.54626041C>T | CA177237032 | RP1 | c.2159C>T (p.Pro720Leu) c.787+3753C>T (n.787+3753C>T) c.2180C>T (p.Pro727Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626042C>A | CA461098674 | RP1 | c.2160C>A (p.Pro720=) c.787+3754C>A (n.787+3754C>A) c.2181C>A (p.Pro727=) | |
| 8 | g.54626042C= | CA1785188131 | RP1 | c.2160C= (p.Pro720=) c.787+3754C= (n.787+3754C=) c.2181C= (p.Pro727=) | |
| 8 | g.54626042C>G | CA461098672 | RP1 | c.2160C>G (p.Pro720=) c.787+3754C>G (n.787+3754C>G) c.2181C>G (p.Pro727=) | |
| 8 | g.54626042C>T | CA461098673 | RP1 | c.2160C>T (p.Pro720=) c.787+3754C>T (n.787+3754C>T) c.2181C>T (p.Pro727=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54626043C>A | CA370992867 | RP1 | c.2161C>A (p.Leu721Ile) c.787+3755C>A (n.787+3755C>A) c.2182C>A (p.Leu728Ile) | |
| 8 | g.54626043C>G | CA370992868 | RP1 | c.2161C>G (p.Leu721Val) c.787+3755C>G (n.787+3755C>G) c.2182C>G (p.Leu728Val) | |
| 8 | g.54626043C>T | CA370992869 | RP1 | c.2161C>T (p.Leu721Phe) c.787+3755C>T (n.787+3755C>T) c.2182C>T (p.Leu728Phe) | COSMIC |
| 8 | g.54626044T>A | CA370992870 | RP1 | c.2162T>A (p.Leu721His) c.787+3756T>A (n.787+3756T>A) c.2183T>A (p.Leu728His) | dbSNP |
| 8 | g.54626044T>C | CA370992871 | RP1 | c.2162T>C (p.Leu721Pro) c.787+3756T>C (n.787+3756T>C) c.2183T>C (p.Leu728Pro) | |
| 8 | g.54626044T>G | CA370992872 | RP1 | c.2162T>G (p.Leu721Arg) c.787+3756T>G (n.787+3756T>G) c.2183T>G (p.Leu728Arg) | |
| 8 | g.54626044T= | CA1785188132 | RP1 | c.2162T= (p.Leu721=) c.787+3756T= (n.787+3756T=) c.2183T= (p.Leu728=) | |
| 8 | g.54626045dup | CA2695209266 | RP1 | c.2163dup (p.Lys722Ter) c.787+3757dup (n.787+3757dup) c.2184dup (p.Lys729Ter) | |
| 8 | g.54626045T>A | CA461098678 | RP1 | c.2163T>A (p.Leu721=) c.787+3757T>A (n.787+3757T>A) c.2184T>A (p.Leu728=) | |
| 8 | g.54626045T>C | CA4751487 | RP1 | c.2163T>C (p.Leu721=) c.787+3757T>C (n.787+3757T>C) c.2184T>C (p.Leu728=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626045T>G | CA461098679 | RP1 | c.2163T>G (p.Leu721=) c.787+3757T>G (n.787+3757T>G) c.2184T>G (p.Leu728=) | |
| 8 | g.54626045T= | CA1785188133 | RP1 | c.2163T= (p.Leu721=) c.787+3757T= (n.787+3757T=) c.2184T= (p.Leu728=) | |
| 8 | g.54626046A>C | CA370992875 | RP1 | c.2164A>C (p.Lys722Gln) c.787+3758A>C (n.787+3758A>C) c.2185A>C (p.Lys729Gln) | |
| 8 | g.54626046A>G | CA370992874 | RP1 | c.2164A>G (p.Lys722Glu) c.787+3758A>G (n.787+3758A>G) c.2185A>G (p.Lys729Glu) | |
| 8 | g.54626046A>T | CA370992873 | RP1 | c.2164A>T (p.Lys722Ter) c.787+3758A>T (n.787+3758A>T) c.2185A>T (p.Lys729Ter) | |
| 8 | g.54626048del | CA2499219349 | RP1 | c.2166del (p.Gly723GlufsTer15) c.787+3760del (n.787+3760del) c.2187del (p.Gly730GlufsTer15) | ClinVar dbSNP |
| 8 | g.54626047A= | CA1785188134 | RP1 | c.2165A= (p.Lys722=) c.787+3759A= (n.787+3759A=) c.2186A= (p.Lys729=) | |
| 8 | g.54626047A>C | CA370992876 | RP1 | c.2165A>C (p.Lys722Thr) c.787+3759A>C (n.787+3759A>C) c.2186A>C (p.Lys729Thr) | |
| 8 | g.54626047A>G | CA370992877 | RP1 | c.2165A>G (p.Lys722Arg) c.787+3759A>G (n.787+3759A>G) c.2186A>G (p.Lys729Arg) | COSMIC |
| 8 | g.54626047A>T | CA4751488 | RP1 | c.2165A>T (p.Lys722Ile) c.787+3759A>T (n.787+3759A>T) c.2186A>T (p.Lys729Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626047_54626048delinsG | CA2695209267 | RP1 | c.2165_2166delinsG (p.Lys722ArgfsTer16) c.787+3759_787+3760delinsG (n.787+3759_787+3760delinsG) c.2186_2187delinsG (p.Lys729ArgfsTer16) | |
| 8 | g.54626048A>C | CA370992878 | RP1 | c.2166A>C (p.Lys722Asn) c.787+3760A>C (n.787+3760A>C) c.2187A>C (p.Lys729Asn) | COSMIC |
| 8 | g.54626048A>G | CA461098683 | RP1 | c.2166A>G (p.Lys722=) c.787+3760A>G (n.787+3760A>G) c.2187A>G (p.Lys729=) | |
| 8 | g.54626048A>T | CA370992879 | RP1 | c.2166A>T (p.Lys722Asn) c.787+3760A>T (n.787+3760A>T) c.2187A>T (p.Lys729Asn) | |
| 8 | g.54626049G>A | CA370992880 | RP1 | c.2167G>A (p.Gly723Arg) c.787+3761G>A (n.787+3761G>A) c.2188G>A (p.Gly730Arg) | gnomAD v4 |
| 8 | g.54626049G>C | CA370992881 | RP1 | c.2167G>C (p.Gly723Arg) c.787+3761G>C (n.787+3761G>C) c.2188G>C (p.Gly730Arg) | |
| 8 | g.54626049G= | CA1785188136 | RP1 | c.2167G= (p.Gly723=) c.787+3761G= (n.787+3761G=) c.2188G= (p.Gly730=) | |
| 8 | g.54626049G>T | CA370992882 | RP1 | c.2167G>T (p.Gly723Ter) c.787+3761G>T (n.787+3761G>T) c.2188G>T (p.Gly730Ter) | ClinVar dbSNP |
| 8 | g.54626049_54626063delinsGGAGGGATACTTTGT | CA1785188135 | RP1 | c.2167_2181delinsGGAGGGATACTTTGT (p.Gly723=) c.787+3761_787+3775delinsGGAGGGATACTTTGT (n.787+3761_787+3775delinsGGAGGGATACTTTGT) c.2188_2202delinsGGAGGGATACTTTGT (p.Gly730=) | |
| 8 | g.54626050G>A | CA4751489 | RP1 | c.2168G>A (p.Gly723Glu) c.787+3762G>A (n.787+3762G>A) c.2189G>A (p.Gly730Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626050G>C | CA370992883 | RP1 | c.2168G>C (p.Gly723Ala) c.787+3762G>C (n.787+3762G>C) c.2189G>C (p.Gly730Ala) | |
| 8 | g.54626050G= | CA1785188137 | RP1 | c.2168G= (p.Gly723=) c.787+3762G= (n.787+3762G=) c.2189G= (p.Gly730=) | |
| 8 | g.54626050G>T | CA370992884 | RP1 | c.2168G>T (p.Gly723Val) c.787+3762G>T (n.787+3762G>T) c.2189G>T (p.Gly730Val) | COSMIC |
| 8 | g.54626054_54626067del | CA645509466 | RP1 | c.2172_2185del (p.Ile725ArgfsTer6) c.787+3766_787+3779del (n.787+3766_787+3779del) c.2193_2206del (p.Ile732ArgfsTer6) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626051del | CA2695209268 | RP1 | c.2169del (p.Ile725TyrfsTer13) c.787+3763del (n.787+3763del) c.2190del (p.Ile732TyrfsTer13) | |
| 8 | g.54626051A= | CA1785188138 | RP1 | c.2169A= (p.Gly723=) c.787+3763A= (n.787+3763A=) c.2190A= (p.Gly730=) | |
| 8 | g.54626051A>C | CA461098686 | RP1 | c.2169A>C (p.Gly723=) c.787+3763A>C (n.787+3763A>C) c.2190A>C (p.Gly730=) | |
| 8 | g.54626051A>G | CA4751490 | RP1 | c.2169A>G (p.Gly723=) c.787+3763A>G (n.787+3763A>G) c.2190A>G (p.Gly730=) | dbSNP ExAC |
| 8 | g.54626051A>T | CA461098687 | RP1 | c.2169A>T (p.Gly723=) c.787+3763A>T (n.787+3763A>T) c.2190A>T (p.Gly730=) | |
| 8 | g.54626052G>A | CA370992885 | RP1 | c.2170G>A (p.Gly724Arg) c.787+3764G>A (n.787+3764G>A) c.2191G>A (p.Gly731Arg) | ClinVar |
| 8 | g.54626052G>C | CA370992886 | RP1 | c.2170G>C (p.Gly724Arg) c.787+3764G>C (n.787+3764G>C) c.2191G>C (p.Gly731Arg) | |
| 8 | g.54626052G>T | CA370992887 | RP1 | c.2170G>T (p.Gly724Trp) c.787+3764G>T (n.787+3764G>T) c.2191G>T (p.Gly731Trp) | |
| 8 | g.54626054dup | CA2695209269 | RP1 | c.2172dup (p.Ile725AspfsTer4) c.787+3766dup (n.787+3766dup) c.2193dup (p.Ile732AspfsTer4) | |
| 8 | g.54626053G>A | CA370992890 | RP1 | c.2171G>A (p.Gly724Glu) c.787+3765G>A (n.787+3765G>A) c.2192G>A (p.Gly731Glu) | gnomAD v4 COSMIC |
| 8 | g.54626053G>C | CA370992888 | RP1 | c.2171G>C (p.Gly724Ala) c.787+3765G>C (n.787+3765G>C) c.2192G>C (p.Gly731Ala) | |
| 8 | g.54626053G>T | CA370992889 | RP1 | c.2171G>T (p.Gly724Val) c.787+3765G>T (n.787+3765G>T) c.2192G>T (p.Gly731Val) | |
| 8 | g.54626053_54626068del | CA2695209270 | RP1 | c.2171_2186del (p.Gly724GlufsTer9) c.787+3765_787+3780del (n.787+3765_787+3780del) c.2192_2207del (p.Gly731GlufsTer9) | |
| 8 | g.54626054G>A | CA461098691 | RP1 | c.2172G>A (p.Gly724=) c.787+3766G>A (n.787+3766G>A) c.2193G>A (p.Gly731=) | COSMIC |
| 8 | g.54626054G>C | CA461098693 | RP1 | c.2172G>C (p.Gly724=) c.787+3766G>C (n.787+3766G>C) c.2193G>C (p.Gly731=) | ClinVar |
| 8 | g.54626054G>T | CA461098692 | RP1 | c.2172G>T (p.Gly724=) c.787+3766G>T (n.787+3766G>T) c.2193G>T (p.Gly731=) | gnomAD v4 |
| 8 | g.54626055A= | CA1785188139 | RP1 | c.2173A= (p.Ile725=) c.787+3767A= (n.787+3767A=) c.2194A= (p.Ile732=) | |
| 8 | g.54626055A>C | CA370992891 | RP1 | c.2173A>C (p.Ile725Leu) c.787+3767A>C (n.787+3767A>C) c.2194A>C (p.Ile732Leu) | |
| 8 | g.54626055A>G | CA370992892 | RP1 | c.2173A>G (p.Ile725Val) c.787+3767A>G (n.787+3767A>G) c.2194A>G (p.Ile732Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626055A>T | CA370992893 | RP1 | c.2173A>T (p.Ile725Leu) c.787+3767A>T (n.787+3767A>T) c.2194A>T (p.Ile732Leu) | gnomAD v4 |
| 8 | g.54626055dup | CA2573143220 | RP1 | c.2173dup (p.Ile725AsnfsTer4) c.787+3767dup (n.787+3767dup) c.2194dup (p.Ile732AsnfsTer4) | ClinVar dbSNP |
| 8 | g.54626055_54626056delinsG | CA2580078390 | RP1 | c.2173_2174delinsG (p.Ile725AspfsTer13) c.787+3767_787+3768delinsG (n.787+3767_787+3768delinsG) c.2194_2195delinsG (p.Ile732AspfsTer13) | ClinVar dbSNP |
| 8 | g.54626056T>A | CA370992894 | RP1 | c.2174T>A (p.Ile725Lys) c.787+3768T>A (n.787+3768T>A) c.2195T>A (p.Ile732Lys) | |
| 8 | g.54626056T>C | CA370992895 | RP1 | c.2174T>C (p.Ile725Thr) c.787+3768T>C (n.787+3768T>C) c.2195T>C (p.Ile732Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626056T>G | CA370992896 | RP1 | c.2174T>G (p.Ile725Arg) c.787+3768T>G (n.787+3768T>G) c.2195T>G (p.Ile732Arg) | |
| 8 | g.54626056T= | CA1785188140 | RP1 | c.2174T= (p.Ile725=) c.787+3768T= (n.787+3768T=) c.2195T= (p.Ile732=) | |
| 8 | g.54626057A= | CA1785188141 | RP1 | c.2175A= (p.Ile725=) c.787+3769A= (n.787+3769A=) c.2196A= (p.Ile732=) | |
| 8 | g.54626057A>C | CA461098694 | RP1 | c.2175A>C (p.Ile725=) c.787+3769A>C (n.787+3769A>C) c.2196A>C (p.Ile732=) | |
| 8 | g.54626057A>G | CA370992897 | RP1 | c.2175A>G (p.Ile725Met) c.787+3769A>G (n.787+3769A>G) c.2196A>G (p.Ile732Met) | dbSNP |
| 8 | g.54626057A>T | CA461098696 | RP1 | c.2175A>T (p.Ile725=) c.787+3769A>T (n.787+3769A>T) c.2196A>T (p.Ile732=) | |
| 8 | g.54626058C>A | CA370992898 | RP1 | c.2176C>A (p.Leu726Ile) c.787+3770C>A (n.787+3770C>A) c.2197C>A (p.Leu733Ile) | gnomAD v4 |
| 8 | g.54626058C>G | CA370992899 | RP1 | c.2176C>G (p.Leu726Val) c.787+3770C>G (n.787+3770C>G) c.2197C>G (p.Leu733Val) | |
| 8 | g.54626058C>T | CA370992900 | RP1 | c.2176C>T (p.Leu726Phe) c.787+3770C>T (n.787+3770C>T) c.2197C>T (p.Leu733Phe) | |
| 8 | g.54626059T>A | CA370992903 | RP1 | c.2177T>A (p.Leu726His) c.787+3771T>A (n.787+3771T>A) c.2198T>A (p.Leu733His) | COSMIC |
| 8 | g.54626059T>C | CA370992902 | RP1 | c.2177T>C (p.Leu726Pro) c.787+3771T>C (n.787+3771T>C) c.2198T>C (p.Leu733Pro) | COSMIC |
| 8 | g.54626059T>G | CA370992901 | RP1 | c.2177T>G (p.Leu726Arg) c.787+3771T>G (n.787+3771T>G) c.2198T>G (p.Leu733Arg) | dbSNP |
| 8 | g.54626059T= | CA1785188142 | RP1 | c.2177T= (p.Leu726=) c.787+3771T= (n.787+3771T=) c.2198T= (p.Leu733=) | |
| 8 | g.54626060T>A | CA4751491 | RP1 | c.2178T>A (p.Leu726=) c.787+3772T>A (n.787+3772T>A) c.2199T>A (p.Leu733=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626060T>C | CA461098697 | RP1 | c.2178T>C (p.Leu726=) c.787+3772T>C (n.787+3772T>C) c.2199T>C (p.Leu733=) | |
| 8 | g.54626060T>G | CA461098698 | RP1 | c.2178T>G (p.Leu726=) c.787+3772T>G (n.787+3772T>G) c.2199T>G (p.Leu733=) | |
| 8 | g.54626060T= | CA1785188143 | RP1 | c.2178T= (p.Leu726=) c.787+3772T= (n.787+3772T=) c.2199T= (p.Leu733=) | |
| 8 | g.54626061T>A | CA370992904 | RP1 | c.2179T>A (p.Cys727Ser) c.787+3773T>A (n.787+3773T>A) c.2200T>A (p.Cys734Ser) | |
| 8 | g.54626061T>C | CA370992905 | RP1 | c.2179T>C (p.Cys727Arg) c.787+3773T>C (n.787+3773T>C) c.2200T>C (p.Cys734Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626061T>G | CA370992906 | RP1 | c.2179T>G (p.Cys727Gly) c.787+3773T>G (n.787+3773T>G) c.2200T>G (p.Cys734Gly) | |
| 8 | g.54626061T= | CA1785188144 | RP1 | c.2179T= (p.Cys727=) c.787+3773T= (n.787+3773T=) c.2200T= (p.Cys734=) | |
| 8 | g.54626062del | CA2580611074 | RP1 | c.2180del (p.Cys727LeufsTer11) c.787+3774del (n.787+3774del) c.2201del (p.Cys734LeufsTer11) | |
| 8 | g.54626062G>A | CA370992907 | RP1 | c.2180G>A (p.Cys727Tyr) c.787+3774G>A (n.787+3774G>A) c.2201G>A (p.Cys734Tyr) | |
| 8 | g.54626062G>C | CA370992908 | RP1 | c.2180G>C (p.Cys727Ser) c.787+3774G>C (n.787+3774G>C) c.2201G>C (p.Cys734Ser) | |
| 8 | g.54626062G>T | CA370992909 | RP1 | c.2180G>T (p.Cys727Phe) c.787+3774G>T (n.787+3774G>T) c.2201G>T (p.Cys734Phe) | gnomAD v4 |
| 8 | g.54626062_54626063delinsAA | CA915945689 | RP1 | c.2180_2181delinsAA (p.Cys727Ter) c.787+3774_787+3775delinsAA (n.787+3774_787+3775delinsAA) c.2201_2202delinsAA (p.Cys734Ter) | ClinVar dbSNP |
| 8 | g.54626062_54626063delinsGT | CA1785188145 | RP1 | c.2180_2181delinsGT (p.Cys727=) c.787+3774_787+3775delinsGT (n.787+3774_787+3775delinsGT) c.2201_2202delinsGT (p.Cys734=) | |
| 8 | g.54626063T>A | CA370992910 | RP1 | c.2181T>A (p.Cys727Ter) c.787+3775T>A (n.787+3775T>A) c.2202T>A (p.Cys734Ter) | |
| 8 | g.54626063T>C | CA461098702 | RP1 | c.2181T>C (p.Cys727=) c.787+3775T>C (n.787+3775T>C) c.2202T>C (p.Cys734=) | |
| 8 | g.54626063T>G | CA370992911 | RP1 | c.2181T>G (p.Cys727Trp) c.787+3775T>G (n.787+3775T>G) c.2202T>G (p.Cys734Trp) | |
| 8 | g.54626064G>A | CA370992912 | RP1 | c.2182G>A (p.Glu728Lys) c.787+3776G>A (n.787+3776G>A) c.2203G>A (p.Glu735Lys) | gnomAD v4 |
| 8 | g.54626064G>C | CA370992913 | RP1 | c.2182G>C (p.Glu728Gln) c.787+3776G>C (n.787+3776G>C) c.2203G>C (p.Glu735Gln) | |
| 8 | g.54626064G>T | CA370992914 | RP1 | c.2182G>T (p.Glu728Ter) c.787+3776G>T (n.787+3776G>T) c.2203G>T (p.Glu735Ter) | |
| 8 | g.54626065A>C | CA370992917 | RP1 | c.2183A>C (p.Glu728Ala) c.787+3777A>C (n.787+3777A>C) c.2204A>C (p.Glu735Ala) | |
| 8 | g.54626065A>G | CA370992916 | RP1 | c.2183A>G (p.Glu728Gly) c.787+3777A>G (n.787+3777A>G) c.2204A>G (p.Glu735Gly) | |
| 8 | g.54626065A>T | CA370992915 | RP1 | c.2183A>T (p.Glu728Val) c.787+3777A>T (n.787+3777A>T) c.2204A>T (p.Glu735Val) | |
| 8 | g.54626066G>A | CA461098706 | RP1 | c.2184G>A (p.Glu728=) c.787+3778G>A (n.787+3778G>A) c.2205G>A (p.Glu735=) | gnomAD v4 |
| 8 | g.54626066G>C | CA370992918 | RP1 | c.2184G>C (p.Glu728Asp) c.787+3778G>C (n.787+3778G>C) c.2205G>C (p.Glu735Asp) | ClinVar dbSNP |
| 8 | g.54626066G>T | CA370992919 | RP1 | c.2184G>T (p.Glu728Asp) c.787+3778G>T (n.787+3778G>T) c.2205G>T (p.Glu735Asp) | |
| 8 | g.54626067del | CA2580078391 | RP1 | c.2185del (p.Glu729LysfsTer9) c.787+3779del (n.787+3779del) c.2206del (p.Glu736LysfsTer9) | ClinVar |
| 8 | g.54626067G>A | CA370992920 | RP1 | c.2185G>A (p.Glu729Lys) c.787+3779G>A (n.787+3779G>A) c.2206G>A (p.Glu736Lys) | gnomAD v4 COSMIC |
| 8 | g.54626067G>C | CA370992921 | RP1 | c.2185G>C (p.Glu729Gln) c.787+3779G>C (n.787+3779G>C) c.2206G>C (p.Glu736Gln) | |
| 8 | g.54626067G>T | CA370992922 | RP1 | c.2185G>T (p.Glu729Ter) c.787+3779G>T (n.787+3779G>T) c.2206G>T (p.Glu736Ter) | ClinVar |
| 8 | g.54626069_54626071dup | CA2579168459 | RP1 | c.2187_2189dup (p.Glu729_Asp730insGlu) c.787+3781_787+3783dup (n.787+3781_787+3783dup) c.2208_2210dup (p.Glu736_Asp737insGlu) | gnomAD v4 |
| 8 | g.54626068A= | CA1785188146 | RP1 | c.2186A= (p.Glu729=) c.787+3780A= (n.787+3780A=) c.2207A= (p.Glu736=) | |
| 8 | g.54626068A>C | CA370992923 | RP1 | c.2186A>C (p.Glu729Ala) c.787+3780A>C (n.787+3780A>C) c.2207A>C (p.Glu736Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626068A>G | CA370992924 | RP1 | c.2186A>G (p.Glu729Gly) c.787+3780A>G (n.787+3780A>G) c.2207A>G (p.Glu736Gly) | |
| 8 | g.54626068A>T | CA370992925 | RP1 | c.2186A>T (p.Glu729Val) c.787+3780A>T (n.787+3780A>T) c.2207A>T (p.Glu736Val) | |
| 8 | g.54626069A= | CA1785188147 | RP1 | c.2187A= (p.Glu729=) c.787+3781A= (n.787+3781A=) c.2208A= (p.Glu736=) | |
| 8 | g.54626069A>C | CA370992926 | RP1 | c.2187A>C (p.Glu729Asp) c.787+3781A>C (n.787+3781A>C) c.2208A>C (p.Glu736Asp) | |
| 8 | g.54626069A>G | CA461098709 | RP1 | c.2187A>G (p.Glu729=) c.787+3781A>G (n.787+3781A>G) c.2208A>G (p.Glu736=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626069A>T | CA370992927 | RP1 | c.2187A>T (p.Glu729Asp) c.787+3781A>T (n.787+3781A>T) c.2208A>T (p.Glu736Asp) | COSMIC |
| 8 | g.54626070G>A | CA370992928 | RP1 | c.2188G>A (p.Asp730Asn) c.787+3782G>A (n.787+3782G>A) c.2209G>A (p.Asp737Asn) | gnomAD v4 |
| 8 | g.54626070G>C | CA177237046 | RP1 | c.2188G>C (p.Asp730His) c.787+3782G>C (n.787+3782G>C) c.2209G>C (p.Asp737His) | dbSNP gnomAD v4 |
| 8 | g.54626070G= | CA1785188148 | RP1 | c.2188G= (p.Asp730=) c.787+3782G= (n.787+3782G=) c.2209G= (p.Asp737=) | |
| 8 | g.54626070G>T | CA370992929 | RP1 | c.2188G>T (p.Asp730Tyr) c.787+3782G>T (n.787+3782G>T) c.2209G>T (p.Asp737Tyr) | |
| 8 | g.54626071A>C | CA370992931 | RP1 | c.2189A>C (p.Asp730Ala) c.787+3783A>C (n.787+3783A>C) c.2210A>C (p.Asp737Ala) | |
| 8 | g.54626071A>G | CA370992932 | RP1 | c.2189A>G (p.Asp730Gly) c.787+3783A>G (n.787+3783A>G) c.2210A>G (p.Asp737Gly) | |
| 8 | g.54626071A>T | CA370992930 | RP1 | c.2189A>T (p.Asp730Val) c.787+3783A>T (n.787+3783A>T) c.2210A>T (p.Asp737Val) | |
| 8 | g.54626072C>A | CA370992934 | RP1 | c.2190C>A (p.Asp730Glu) c.787+3784C>A (n.787+3784C>A) c.2211C>A (p.Asp737Glu) | |
| 8 | g.54626072C>G | CA370992933 | RP1 | c.2190C>G (p.Asp730Glu) c.787+3784C>G (n.787+3784C>G) c.2211C>G (p.Asp737Glu) | |
| 8 | g.54626072C>T | CA461098713 | RP1 | c.2190C>T (p.Asp730=) c.787+3784C>T (n.787+3784C>T) c.2211C>T (p.Asp737=) | |
| 8 | g.54626073del | CA2687301830 | RP1 | c.2191del (p.Leu731SerfsTer7) c.787+3785del (n.787+3785del) c.2212del (p.Leu738SerfsTer7) | gnomAD v4 |
| 8 | g.54626073C>A | CA370992937 | RP1 | c.2191C>A (p.Leu731Ile) c.787+3785C>A (n.787+3785C>A) c.2212C>A (p.Leu738Ile) | |
| 8 | g.54626073C>G | CA370992935 | RP1 | c.2191C>G (p.Leu731Val) c.787+3785C>G (n.787+3785C>G) c.2212C>G (p.Leu738Val) | |
| 8 | g.54626073C>T | CA370992936 | RP1 | c.2191C>T (p.Leu731Phe) c.787+3785C>T (n.787+3785C>T) c.2212C>T (p.Leu738Phe) | |
| 8 | g.54626074T>A | CA370992938 | RP1 | c.2192T>A (p.Leu731His) c.787+3786T>A (n.787+3786T>A) c.2213T>A (p.Leu738His) | |
| 8 | g.54626074T>C | CA4751492 | RP1 | c.2192T>C (p.Leu731Pro) c.787+3786T>C (n.787+3786T>C) c.2213T>C (p.Leu738Pro) | dbSNP ExAC gnomAD v2 |
| 8 | g.54626074T>G | CA370992940 | RP1 | c.2192T>G (p.Leu731Arg) c.787+3786T>G (n.787+3786T>G) c.2213T>G (p.Leu738Arg) | |
| 8 | g.54626074T= | CA1785188149 | RP1 | c.2192T= (p.Leu731=) c.787+3786T= (n.787+3786T=) c.2213T= (p.Leu738=) | |
| 8 | g.54626075C>A | CA461098717 | RP1 | c.2193C>A (p.Leu731=) c.787+3787C>A (n.787+3787C>A) c.2214C>A (p.Leu738=) | |
| 8 | g.54626075C>G | CA461098719 | RP1 | c.2193C>G (p.Leu731=) c.787+3787C>G (n.787+3787C>G) c.2214C>G (p.Leu738=) | |
| 8 | g.54626075C>T | CA461098720 | RP1 | c.2193C>T (p.Leu731=) c.787+3787C>T (n.787+3787C>T) c.2214C>T (p.Leu738=) | |
| 8 | g.54626076C>A | CA370992941 | RP1 | c.2194C>A (p.Gln732Lys) c.787+3788C>A (n.787+3788C>A) c.2215C>A (p.Gln739Lys) | |
| 8 | g.54626076C>G | CA370992943 | RP1 | c.2194C>G (p.Gln732Glu) c.787+3788C>G (n.787+3788C>G) c.2215C>G (p.Gln739Glu) | |
| 8 | g.54626076C>T | CA370992944 | RP1 | c.2194C>T (p.Gln732Ter) c.787+3788C>T (n.787+3788C>T) c.2215C>T (p.Gln739Ter) | ClinVar dbSNP |
| 8 | g.54626077A>C | CA370992945 | RP1 | c.2195A>C (p.Gln732Pro) c.787+3789A>C (n.787+3789A>C) c.2216A>C (p.Gln739Pro) | |
| 8 | g.54626077A>G | CA370992946 | RP1 | c.2195A>G (p.Gln732Arg) c.787+3789A>G (n.787+3789A>G) c.2216A>G (p.Gln739Arg) | |
| 8 | g.54626077A>T | CA370992948 | RP1 | c.2195A>T (p.Gln732Leu) c.787+3789A>T (n.787+3789A>T) c.2216A>T (p.Gln739Leu) | |
| 8 | g.54626078G>A | CA461098722 | RP1 | c.2196G>A (p.Gln732=) c.787+3790G>A (n.787+3790G>A) c.2217G>A (p.Gln739=) | |
| 8 | g.54626078G>C | CA370992950 | RP1 | c.2196G>C (p.Gln732His) c.787+3790G>C (n.787+3790G>C) c.2217G>C (p.Gln739His) | |
| 8 | g.54626078G>T | CA370992951 | RP1 | c.2196G>T (p.Gln732His) c.787+3790G>T (n.787+3790G>T) c.2217G>T (p.Gln739His) | |
| 8 | g.54626078_54626079delinsGA | CA1785188150 | RP1 | c.2196_2197delinsGA (p.Gln732=) c.787+3790_787+3791delinsGA (n.787+3790_787+3791delinsGA) c.2217_2218delinsGA (p.Gln739=) | |
| 8 | g.54626079A= | CA1785188151 | RP1 | c.2197A= (p.Lys733=) c.787+3791A= (n.787+3791A=) c.2218A= (p.Lys740=) | |
| 8 | g.54626079A>C | CA370992952 | RP1 | c.2197A>C (p.Lys733Gln) c.787+3791A>C (n.787+3791A>C) c.2218A>C (p.Lys740Gln) | |
| 8 | g.54626079A>G | CA4751493 | RP1 | c.2197A>G (p.Lys733Glu) c.787+3791A>G (n.787+3791A>G) c.2218A>G (p.Lys740Glu) | dbSNP ExAC gnomAD v4 |
| 8 | g.54626079A>T | CA370992954 | RP1 | c.2197A>T (p.Lys733Ter) c.787+3791A>T (n.787+3791A>T) c.2218A>T (p.Lys740Ter) | |
| 8 | g.54626082del | CA916082989 | RP1 | c.2200del (p.Ser734ValfsTer4) c.787+3794del (n.787+3794del) c.2221del (p.Ser741ValfsTer4) | ClinVar dbSNP |
| 8 | g.54626081_54626082del | CA2695209271 | RP1 | c.2199_2200del (p.Ser734Ter) c.787+3793_787+3794del (n.787+3793_787+3794del) c.2220_2221del (p.Ser741Ter) | |
| 8 | g.54626080A= | CA1785188152 | RP1 | c.2198A= (p.Lys733=) c.787+3792A= (n.787+3792A=) c.2219A= (p.Lys740=) | |
| 8 | g.54626080A>C | CA370992957 | RP1 | c.2198A>C (p.Lys733Thr) c.787+3792A>C (n.787+3792A>C) c.2219A>C (p.Lys740Thr) | dbSNP |
| 8 | g.54626080A>G | CA370992958 | RP1 | c.2198A>G (p.Lys733Arg) c.787+3792A>G (n.787+3792A>G) c.2219A>G (p.Lys740Arg) | dbSNP |
| 8 | g.54626080A>T | CA370992959 | RP1 | c.2198A>T (p.Lys733Ile) c.787+3792A>T (n.787+3792A>T) c.2219A>T (p.Lys740Ile) | |
| 8 | g.54626081A>C | CA370992960 | RP1 | c.2199A>C (p.Lys733Asn) c.787+3793A>C (n.787+3793A>C) c.2220A>C (p.Lys740Asn) | |
| 8 | g.54626081A>G | CA461098726 | RP1 | c.2199A>G (p.Lys733=) c.787+3793A>G (n.787+3793A>G) c.2220A>G (p.Lys740=) | |
| 8 | g.54626081A>T | CA370992962 | RP1 | c.2199A>T (p.Lys733Asn) c.787+3793A>T (n.787+3793A>T) c.2220A>T (p.Lys740Asn) | |
| 8 | g.54626082A>C | CA370992964 | RP1 | c.2200A>C (p.Ser734Arg) c.787+3794A>C (n.787+3794A>C) c.2221A>C (p.Ser741Arg) | |
| 8 | g.54626082A>G | CA370992966 | RP1 | c.2200A>G (p.Ser734Gly) c.787+3794A>G (n.787+3794A>G) c.2221A>G (p.Ser741Gly) | |
| 8 | g.54626082A>T | CA370992967 | RP1 | c.2200A>T (p.Ser734Cys) c.787+3794A>T (n.787+3794A>T) c.2221A>T (p.Ser741Cys) | |
| 8 | g.54626083G>A | CA370992968 | RP1 | c.2201G>A (p.Ser734Asn) c.787+3795G>A (n.787+3795G>A) c.2222G>A (p.Ser741Asn) | |
| 8 | g.54626083G>C | CA370992969 | RP1 | c.2201G>C (p.Ser734Thr) c.787+3795G>C (n.787+3795G>C) c.2222G>C (p.Ser741Thr) | gnomAD v4 |
| 8 | g.54626083G>T | CA370992970 | RP1 | c.2201G>T (p.Ser734Ile) c.787+3795G>T (n.787+3795G>T) c.2222G>T (p.Ser741Ile) | |
| 8 | g.54626084T>A | CA370992972 | RP1 | c.2202T>A (p.Ser734Arg) c.787+3796T>A (n.787+3796T>A) c.2223T>A (p.Ser741Arg) | |
| 8 | g.54626084T>C | CA461098733 | RP1 | c.2202T>C (p.Ser734=) c.787+3796T>C (n.787+3796T>C) c.2223T>C (p.Ser741=) | |
| 8 | g.54626084T>G | CA370992974 | RP1 | c.2202T>G (p.Ser734Arg) c.787+3796T>G (n.787+3796T>G) c.2223T>G (p.Ser741Arg) | |
| 8 | g.54626085G>A | CA370992975 | RP1 | c.2203G>A (p.Asp735Asn) c.787+3797G>A (n.787+3797G>A) c.2224G>A (p.Asp742Asn) | |
| 8 | g.54626085G>C | CA370992976 | RP1 | c.2203G>C (p.Asp735His) c.787+3797G>C (n.787+3797G>C) c.2224G>C (p.Asp742His) | |
| 8 | g.54626085G>T | CA370992977 | RP1 | c.2203G>T (p.Asp735Tyr) c.787+3797G>T (n.787+3797G>T) c.2224G>T (p.Asp742Tyr) | |
| 8 | g.54626086A= | CA1785188153 | RP1 | c.2204A= (p.Asp735=) c.787+3798A= (n.787+3798A=) c.2225A= (p.Asp742=) | |
| 8 | g.54626086A>C | CA370992979 | RP1 | c.2204A>C (p.Asp735Ala) c.787+3798A>C (n.787+3798A>C) c.2225A>C (p.Asp742Ala) | |
| 8 | g.54626086A>G | CA4751494 | RP1 | c.2204A>G (p.Asp735Gly) c.787+3798A>G (n.787+3798A>G) c.2225A>G (p.Asp742Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626086A>T | CA370992981 | RP1 | c.2204A>T (p.Asp735Val) c.787+3798A>T (n.787+3798A>T) c.2225A>T (p.Asp742Val) | COSMIC |
| 8 | g.54626087T>A | CA370992982 | RP1 | c.2205T>A (p.Asp735Glu) c.787+3799T>A (n.787+3799T>A) c.2226T>A (p.Asp742Glu) | |
| 8 | g.54626087T>C | CA461098734 | RP1 | c.2205T>C (p.Asp735=) c.787+3799T>C (n.787+3799T>C) c.2226T>C (p.Asp742=) | |
| 8 | g.54626087T>G | CA370992984 | RP1 | c.2205T>G (p.Asp735Glu) c.787+3799T>G (n.787+3799T>G) c.2226T>G (p.Asp742Glu) | |
| 8 | g.54626087T= | CA1785188154 | RP1 | c.2205T= (p.Asp735=) c.787+3799T= (n.787+3799T=) c.2226T= (p.Asp742=) | |
| 8 | g.54626088A>C | CA370992986 | RP1 | c.2206A>C (p.Thr736Pro) c.787+3800A>C (n.787+3800A>C) c.2227A>C (p.Thr743Pro) | |
| 8 | g.54626088A>G | CA370992987 | RP1 | c.2206A>G (p.Thr736Ala) c.787+3800A>G (n.787+3800A>G) c.2227A>G (p.Thr743Ala) | gnomAD v4 |
| 8 | g.54626088A>T | CA370992989 | RP1 | c.2206A>T (p.Thr736Ser) c.787+3800A>T (n.787+3800A>T) c.2227A>T (p.Thr743Ser) | |
| 8 | g.54626088dup | CA645509467 | RP1 | c.2206dup (p.Thr736AsnfsTer4) c.787+3800dup (n.787+3800dup) c.2227dup (p.Thr743AsnfsTer4) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626088_54626089insT | CA2695209272 | RP1 | c.2206_2207insT (p.Thr736IlefsTer4) c.787+3800_787+3801insT (n.787+3800_787+3801insT) c.2227_2228insT (p.Thr743IlefsTer4) | |
| 8 | g.54626089C>A | CA370992993 | RP1 | c.2207C>A (p.Thr736Asn) c.787+3801C>A (n.787+3801C>A) c.2228C>A (p.Thr743Asn) | |
| 8 | g.54626089C= | CA1785188155 | RP1 | c.2207C= (p.Thr736=) c.787+3801C= (n.787+3801C=) c.2228C= (p.Thr743=) | |
| 8 | g.54626089C>G | CA370992991 | RP1 | c.2207C>G (p.Thr736Ser) c.787+3801C>G (n.787+3801C>G) c.2228C>G (p.Thr743Ser) | |
| 8 | g.54626089C>T | CA370992990 | RP1 | c.2207C>T (p.Thr736Ile) c.787+3801C>T (n.787+3801C>T) c.2228C>T (p.Thr743Ile) | ClinVar dbSNP |
| 8 | g.54626090T>A | CA461098738 | RP1 | c.2208T>A (p.Thr736=) c.787+3802T>A (n.787+3802T>A) c.2229T>A (p.Thr743=) | |
| 8 | g.54626090T>C | CA461098740 | RP1 | c.2208T>C (p.Thr736=) c.787+3802T>C (n.787+3802T>C) c.2229T>C (p.Thr743=) | dbSNP gnomAD v2 |
| 8 | g.54626090T>G | CA461098739 | RP1 | c.2208T>G (p.Thr736=) c.787+3802T>G (n.787+3802T>G) c.2229T>G (p.Thr743=) | |
| 8 | g.54626090T= | CA1785188156 | RP1 | c.2208T= (p.Thr736=) c.787+3802T= (n.787+3802T=) c.2229T= (p.Thr743=) | |
| 8 | g.54626091G>A | CA370992995 | RP1 | c.2209G>A (p.Val737Ile) c.787+3803G>A (n.787+3803G>A) c.2230G>A (p.Val744Ile) | |
| 8 | g.54626091G>C | CA370992996 | RP1 | c.2209G>C (p.Val737Leu) c.787+3803G>C (n.787+3803G>C) c.2230G>C (p.Val744Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626091G= | CA1785188157 | RP1 | c.2209G= (p.Val737=) c.787+3803G= (n.787+3803G=) c.2230G= (p.Val744=) | |
| 8 | g.54626091G>T | CA370992998 | RP1 | c.2209G>T (p.Val737Leu) c.787+3803G>T (n.787+3803G>T) c.2230G>T (p.Val744Leu) | |
| 8 | g.54626092T>A | CA370992999 | RP1 | c.2210T>A (p.Val737Glu) c.787+3804T>A (n.787+3804T>A) c.2231T>A (p.Val744Glu) | |
| 8 | g.54626092T>C | CA370993000 | RP1 | c.2210T>C (p.Val737Ala) c.787+3804T>C (n.787+3804T>C) c.2231T>C (p.Val744Ala) | ClinVar dbSNP |
| 8 | g.54626092T>G | CA370993002 | RP1 | c.2210T>G (p.Val737Gly) c.787+3804T>G (n.787+3804T>G) c.2231T>G (p.Val744Gly) | |
| 8 | g.54626093A>C | CA461098742 | RP1 | c.2211A>C (p.Val737=) c.787+3805A>C (n.787+3805A>C) c.2232A>C (p.Val744=) | |
| 8 | g.54626093A>G | CA461098745 | RP1 | c.2211A>G (p.Val737=) c.787+3805A>G (n.787+3805A>G) c.2232A>G (p.Val744=) | |
| 8 | g.54626093A>T | CA461098743 | RP1 | c.2211A>T (p.Val737=) c.787+3805A>T (n.787+3805A>T) c.2232A>T (p.Val744=) | |
| 8 | g.54626094A>C | CA370993004 | RP1 | c.2212A>C (p.Ile738Leu) c.787+3806A>C (n.787+3806A>C) c.2233A>C (p.Ile745Leu) | |
| 8 | g.54626094A>G | CA370993005 | RP1 | c.2212A>G (p.Ile738Val) c.787+3806A>G (n.787+3806A>G) c.2233A>G (p.Ile745Val) | gnomAD v4 |
| 8 | g.54626094A>T | CA370993006 | RP1 | c.2212A>T (p.Ile738Phe) c.787+3806A>T (n.787+3806A>T) c.2233A>T (p.Ile745Phe) | |
| 8 | g.54626095T>A | CA370993008 | RP1 | c.2213T>A (p.Ile738Asn) c.787+3807T>A (n.787+3807T>A) c.2234T>A (p.Ile745Asn) | |
| 8 | g.54626095T>C | CA370993009 | RP1 | c.2213T>C (p.Ile738Thr) c.787+3807T>C (n.787+3807T>C) c.2234T>C (p.Ile745Thr) | |
| 8 | g.54626095T>G | CA370993010 | RP1 | c.2213T>G (p.Ile738Ser) c.787+3807T>G (n.787+3807T>G) c.2234T>G (p.Ile745Ser) | |
| 8 | g.54626096T>A | CA461098747 | RP1 | c.2214T>A (p.Ile738=) c.787+3808T>A (n.787+3808T>A) c.2235T>A (p.Ile745=) | |
| 8 | g.54626096T>C | CA461098746 | RP1 | c.2214T>C (p.Ile738=) c.787+3808T>C (n.787+3808T>C) c.2235T>C (p.Ile745=) | |
| 8 | g.54626096T>G | CA177237055 | RP1 | c.2214T>G (p.Ile738Met) c.787+3808T>G (n.787+3808T>G) c.2235T>G (p.Ile745Met) | dbSNP |
| 8 | g.54626096T= | CA1785188158 | RP1 | c.2214T= (p.Ile738=) c.787+3808T= (n.787+3808T=) c.2235T= (p.Ile745=) | |
| 8 | g.54626097G>A | CA370993014 | RP1 | c.2215G>A (p.Glu739Lys) c.787+3809G>A (n.787+3809G>A) c.2236G>A (p.Glu746Lys) | |
| 8 | g.54626097G>C | CA370993016 | RP1 | c.2215G>C (p.Glu739Gln) c.787+3809G>C (n.787+3809G>C) c.2236G>C (p.Glu746Gln) | |
| 8 | g.54626097G>T | CA370993013 | RP1 | c.2215G>T (p.Glu739Ter) c.787+3809G>T (n.787+3809G>T) c.2236G>T (p.Glu746Ter) | ClinVar dbSNP |
| 8 | g.54626098A= | CA1785188159 | RP1 | c.2216A= (p.Glu739=) c.787+3810A= (n.787+3810A=) c.2237A= (p.Glu746=) | |
| 8 | g.54626098A>C | CA370993020 | RP1 | c.2216A>C (p.Glu739Ala) c.787+3810A>C (n.787+3810A>C) c.2237A>C (p.Glu746Ala) | |
| 8 | g.54626098A>G | CA370993017 | RP1 | c.2216A>G (p.Glu739Gly) c.787+3810A>G (n.787+3810A>G) c.2237A>G (p.Glu746Gly) | gnomAD v4 COSMIC |
| 8 | g.54626098A>T | CA370993019 | RP1 | c.2216A>T (p.Glu739Val) c.787+3810A>T (n.787+3810A>T) c.2237A>T (p.Glu746Val) | dbSNP |
| 8 | g.54626099A= | CA1785188160 | RP1 | c.2217A= (p.Glu739=) c.787+3811A= (n.787+3811A=) c.2238A= (p.Glu746=) | |
| 8 | g.54626099A>C | CA370993022 | RP1 | c.2217A>C (p.Glu739Asp) c.787+3811A>C (n.787+3811A>C) c.2238A>C (p.Glu746Asp) | |
| 8 | g.54626099A>G | CA461098749 | RP1 | c.2217A>G (p.Glu739=) c.787+3811A>G (n.787+3811A>G) c.2238A>G (p.Glu746=) | |
| 8 | g.54626099A>T | CA370993024 | RP1 | c.2217A>T (p.Glu739Asp) c.787+3811A>T (n.787+3811A>T) c.2238A>T (p.Glu746Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626100T>A | CA370993025 | RP1 | c.2218T>A (p.Ser740Thr) c.787+3812T>A (n.787+3812T>A) c.2239T>A (p.Ser747Thr) | |
| 8 | g.54626100T>C | CA370993027 | RP1 | c.2218T>C (p.Ser740Pro) c.787+3812T>C (n.787+3812T>C) c.2239T>C (p.Ser747Pro) | gnomAD v4 |
| 8 | g.54626100T>G | CA370993028 | RP1 | c.2218T>G (p.Ser740Ala) c.787+3812T>G (n.787+3812T>G) c.2239T>G (p.Ser747Ala) | |
| 8 | g.54626101C>A | CA370993030 | RP1 | c.2219C>A (p.Ser740Ter) c.787+3813C>A (n.787+3813C>A) c.2240C>A (p.Ser747Ter) | ClinVar dbSNP |
| 8 | g.54626101C= | CA1785188161 | RP1 | c.2219C= (p.Ser740=) c.787+3813C= (n.787+3813C=) c.2240C= (p.Ser747=) | |
| 8 | g.54626101C>G | CA370993031 | RP1 | c.2219C>G (p.Ser740Ter) c.787+3813C>G (n.787+3813C>G) c.2240C>G (p.Ser747Ter) | ClinVar dbSNP |
| 8 | g.54626101C>T | CA370993032 | RP1 | c.2219C>T (p.Ser740Leu) c.787+3813C>T (n.787+3813C>T) c.2240C>T (p.Ser747Leu) | |
| 8 | g.54626102A>C | CA461098750 | RP1 | c.2220A>C (p.Ser740=) c.787+3814A>C (n.787+3814A>C) c.2241A>C (p.Ser747=) | |
| 8 | g.54626102A>G | CA461098751 | RP1 | c.2220A>G (p.Ser740=) c.787+3814A>G (n.787+3814A>G) c.2241A>G (p.Ser747=) | |
| 8 | g.54626102A>T | CA461098752 | RP1 | c.2220A>T (p.Ser740=) c.787+3814A>T (n.787+3814A>T) c.2241A>T (p.Ser747=) | |
| 8 | g.54626104del | CA2579168460 | RP1 | c.2222del (p.Asn741IlefsTer22) c.787+3816del (n.787+3816del) c.2243del (p.Asn748IlefsTer22) | |
| 8 | g.54626103A>C | CA370993034 | RP1 | c.2221A>C (p.Asn741His) c.787+3815A>C (n.787+3815A>C) c.2242A>C (p.Asn748His) | gnomAD v4 |
| 8 | g.54626103A>G | CA370993036 | RP1 | c.2221A>G (p.Asn741Asp) c.787+3815A>G (n.787+3815A>G) c.2242A>G (p.Asn748Asp) | |
| 8 | g.54626103A>T | CA370993038 | RP1 | c.2221A>T (p.Asn741Tyr) c.787+3815A>T (n.787+3815A>T) c.2242A>T (p.Asn748Tyr) | |
| 8 | g.54626104A>C | CA370993039 | RP1 | c.2222A>C (p.Asn741Thr) c.787+3816A>C (n.787+3816A>C) c.2243A>C (p.Asn748Thr) | COSMIC |
| 8 | g.54626104A>G | CA370993042 | RP1 | c.2222A>G (p.Asn741Ser) c.787+3816A>G (n.787+3816A>G) c.2243A>G (p.Asn748Ser) | |
| 8 | g.54626104A>T | CA370993040 | RP1 | c.2222A>T (p.Asn741Ile) c.787+3816A>T (n.787+3816A>T) c.2243A>T (p.Asn748Ile) | COSMIC |
| 8 | g.54626105T>A | CA370993044 | RP1 | c.2223T>A (p.Asn741Lys) c.787+3817T>A (n.787+3817T>A) c.2244T>A (p.Asn748Lys) | |
| 8 | g.54626105T>C | CA461098755 | RP1 | c.2223T>C (p.Asn741=) c.787+3817T>C (n.787+3817T>C) c.2244T>C (p.Asn748=) | dbSNP gnomAD v4 COSMIC |
| 8 | g.54626105T>G | CA370993046 | RP1 | c.2223T>G (p.Asn741Lys) c.787+3817T>G (n.787+3817T>G) c.2244T>G (p.Asn748Lys) | |
| 8 | g.54626105T= | CA1785188162 | RP1 | c.2223T= (p.Asn741=) c.787+3817T= (n.787+3817T=) c.2244T= (p.Asn748=) | |
| 8 | g.54626106A>C | CA370993047 | RP1 | c.2224A>C (p.Thr742Pro) c.787+3818A>C (n.787+3818A>C) c.2245A>C (p.Thr749Pro) | |
| 8 | g.54626106A>G | CA370993048 | RP1 | c.2224A>G (p.Thr742Ala) c.787+3818A>G (n.787+3818A>G) c.2245A>G (p.Thr749Ala) | |
| 8 | g.54626106A>T | CA370993050 | RP1 | c.2224A>T (p.Thr742Ser) c.787+3818A>T (n.787+3818A>T) c.2245A>T (p.Thr749Ser) | |
| 8 | g.54626107C>A | CA370993052 | RP1 | c.2225C>A (p.Thr742Asn) c.787+3819C>A (n.787+3819C>A) c.2246C>A (p.Thr749Asn) | |
| 8 | g.54626107C= | CA1785188164 | RP1 | c.2225C= (p.Thr742=) c.787+3819C= (n.787+3819C=) c.2246C= (p.Thr749=) | |
| 8 | g.54626107C>G | CA370993055 | RP1 | c.2225C>G (p.Thr742Ser) c.787+3819C>G (n.787+3819C>G) c.2246C>G (p.Thr749Ser) | dbSNP gnomAD v4 |
| 8 | g.54626107C>T | CA370993057 | RP1 | c.2225C>T (p.Thr742Ile) c.787+3819C>T (n.787+3819C>T) c.2246C>T (p.Thr749Ile) | |
| 8 | g.54626107_54626108delinsCT | CA1785188163 | RP1 | c.2225_2226delinsCT (p.Thr742=) c.787+3819_787+3820delinsCT (n.787+3819_787+3820delinsCT) c.2246_2247delinsCT (p.Thr749=) | |
| 8 | g.54626108T>A | CA461098830 | RP1 | c.2226T>A (p.Thr742=) c.787+3820T>A (n.787+3820T>A) c.2247T>A (p.Thr749=) | |
| 8 | g.54626108T>C | CA461098831 | RP1 | c.2226T>C (p.Thr742=) c.787+3820T>C (n.787+3820T>C) c.2247T>C (p.Thr749=) | gnomAD v4 |
| 8 | g.54626108T>G | CA461098832 | RP1 | c.2226T>G (p.Thr742=) c.787+3820T>G (n.787+3820T>G) c.2247T>G (p.Thr749=) | ClinVar dbSNP |
| 8 | g.54626108T= | CA1785188165 | RP1 | c.2226T= (p.Thr742=) c.787+3820T= (n.787+3820T=) c.2247T= (p.Thr749=) | |
| 8 | g.54626112del | CA1785188166 | RP1 | c.2230del (p.Cys744ValfsTer19) c.787+3824del (n.787+3824del) c.2251del (p.Cys751ValfsTer19) | dbSNP |
| 8 | g.54626109T>A | CA370993059 | RP1 | c.2227T>A (p.Phe743Ile) c.787+3821T>A (n.787+3821T>A) c.2248T>A (p.Phe750Ile) | |
| 8 | g.54626109T>C | CA370993061 | RP1 | c.2227T>C (p.Phe743Leu) c.787+3821T>C (n.787+3821T>C) c.2248T>C (p.Phe750Leu) | |
| 8 | g.54626109T>G | CA370993062 | RP1 | c.2227T>G (p.Phe743Val) c.787+3821T>G (n.787+3821T>G) c.2248T>G (p.Phe750Val) | |
| 8 | g.54626110T>A | CA370993067 | RP1 | c.2228T>A (p.Phe743Tyr) c.787+3822T>A (n.787+3822T>A) c.2249T>A (p.Phe750Tyr) | |
| 8 | g.54626110T>C | CA370993069 | RP1 | c.2228T>C (p.Phe743Ser) c.787+3822T>C (n.787+3822T>C) c.2249T>C (p.Phe750Ser) | |
| 8 | g.54626110T>G | CA370993065 | RP1 | c.2228T>G (p.Phe743Cys) c.787+3822T>G (n.787+3822T>G) c.2249T>G (p.Phe750Cys) | |
| 8 | g.54626111T>A | CA370993071 | RP1 | c.2229T>A (p.Phe743Leu) c.787+3823T>A (n.787+3823T>A) c.2250T>A (p.Phe750Leu) | |
| 8 | g.54626111T>C | CA461098833 | RP1 | c.2229T>C (p.Phe743=) c.787+3823T>C (n.787+3823T>C) c.2250T>C (p.Phe750=) | |
| 8 | g.54626111T>G | CA370993072 | RP1 | c.2229T>G (p.Phe743Leu) c.787+3823T>G (n.787+3823T>G) c.2250T>G (p.Phe750Leu) | |
| 8 | g.54626112T>A | CA370993073 | RP1 | c.2230T>A (p.Cys744Ser) c.787+3824T>A (n.787+3824T>A) c.2251T>A (p.Cys751Ser) | |
| 8 | g.54626112T>C | CA4751495 | RP1 | c.2230T>C (p.Cys744Arg) c.787+3824T>C (n.787+3824T>C) c.2251T>C (p.Cys751Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54626112T>G | CA370993076 | RP1 | c.2230T>G (p.Cys744Gly) c.787+3824T>G (n.787+3824T>G) c.2251T>G (p.Cys751Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626112T= | CA1785188167 | RP1 | c.2230T= (p.Cys744=) c.787+3824T= (n.787+3824T=) c.2251T= (p.Cys751=) | |
| 8 | g.54626113G>A | CA370993078 | RP1 | c.2231G>A (p.Cys744Tyr) c.787+3825G>A (n.787+3825G>A) c.2252G>A (p.Cys751Tyr) | dbSNP gnomAD v2 |
| 8 | g.54626113G>C | CA370993079 | RP1 | c.2231G>C (p.Cys744Ser) c.787+3825G>C (n.787+3825G>C) c.2252G>C (p.Cys751Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626113G= | CA1785188168 | RP1 | c.2231G= (p.Cys744=) c.787+3825G= (n.787+3825G=) c.2252G= (p.Cys751=) | |
| 8 | g.54626113G>T | CA370993081 | RP1 | c.2231G>T (p.Cys744Phe) c.787+3825G>T (n.787+3825G>T) c.2252G>T (p.Cys751Phe) | gnomAD v4 |
| 8 | g.54626114T>A | CA370993083 | RP1 | c.2232T>A (p.Cys744Ter) c.787+3826T>A (n.787+3826T>A) c.2253T>A (p.Cys751Ter) | ClinVar dbSNP |
| 8 | g.54626114T>C | CA461098835 | RP1 | c.2232T>C (p.Cys744=) c.787+3826T>C (n.787+3826T>C) c.2253T>C (p.Cys751=) | |
| 8 | g.54626114T>G | CA370993084 | RP1 | c.2232T>G (p.Cys744Trp) c.787+3826T>G (n.787+3826T>G) c.2253T>G (p.Cys751Trp) | ClinVar dbSNP |
| 8 | g.54626114T= | CA1785188169 | RP1 | c.2232T= (p.Cys744=) c.787+3826T= (n.787+3826T=) c.2253T= (p.Cys751=) | |
| 8 | g.54626114_54626115insGTTTATTCTCTCATTC | CA2780387009 | RP1 | c.2232_2233insGTTTATTCTCTCATTC (p.Ser745ValfsTer9) c.787+3826_787+3827insGTTTATTCTCTCATTC (n.787+3826_787+3827insGTTTATTCTCTCATTC) c.2253_2254insGTTTATTCTCTCATTC (p.Ser752ValfsTer9) | |
| 8 | g.54626115T>A | CA370993086 | RP1 | c.2233T>A (p.Ser745Thr) c.787+3827T>A (n.787+3827T>A) c.2254T>A (p.Ser752Thr) | |
| 8 | g.54626115T>C | CA370993088 | RP1 | c.2233T>C (p.Ser745Pro) c.787+3827T>C (n.787+3827T>C) c.2254T>C (p.Ser752Pro) | |
| 8 | g.54626115T>G | CA370993089 | RP1 | c.2233T>G (p.Ser745Ala) c.787+3827T>G (n.787+3827T>G) c.2254T>G (p.Ser752Ala) | |
| 8 | g.54626116C>A | CA370993092 | RP1 | c.2234C>A (p.Ser745Tyr) c.787+3828C>A (n.787+3828C>A) c.2255C>A (p.Ser752Tyr) | |
| 8 | g.54626116C= | CA1785188170 | RP1 | c.2234C= (p.Ser745=) c.787+3828C= (n.787+3828C=) c.2255C= (p.Ser752=) | |
| 8 | g.54626116C>G | CA370993094 | RP1 | c.2234C>G (p.Ser745Cys) c.787+3828C>G (n.787+3828C>G) c.2255C>G (p.Ser752Cys) | |
| 8 | g.54626116C>T | CA370993091 | RP1 | c.2234C>T (p.Ser745Phe) c.787+3828C>T (n.787+3828C>T) c.2255C>T (p.Ser752Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |