| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.54626112del | CA1785188166 | RP1 | c.2230del (p.Cys744ValfsTer19) c.787+3824del (n.787+3824del) c.2251del (p.Cys751ValfsTer19) | dbSNP |
| 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 |
| 8 | g.54626117C>A | CA461098836 | RP1 | c.2235C>A (p.Ser745=) c.787+3829C>A (n.787+3829C>A) c.2256C>A (p.Ser752=) | |
| 8 | g.54626117C= | CA1785188171 | RP1 | c.2235C= (p.Ser745=) c.787+3829C= (n.787+3829C=) c.2256C= (p.Ser752=) | |
| 8 | g.54626117C>G | CA461098837 | RP1 | c.2235C>G (p.Ser745=) c.787+3829C>G (n.787+3829C>G) c.2256C>G (p.Ser752=) | |
| 8 | g.54626117C>T | CA4751496 | RP1 | c.2235C>T (p.Ser745=) c.787+3829C>T (n.787+3829C>T) c.2256C>T (p.Ser752=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626118A>C | CA370993097 | RP1 | c.2236A>C (p.Lys746Gln) c.787+3830A>C (n.787+3830A>C) c.2257A>C (p.Lys753Gln) | |
| 8 | g.54626118A>G | CA370993099 | RP1 | c.2236A>G (p.Lys746Glu) c.787+3830A>G (n.787+3830A>G) c.2257A>G (p.Lys753Glu) | |
| 8 | g.54626118A>T | CA370993101 | RP1 | c.2236A>T (p.Lys746Ter) c.787+3830A>T (n.787+3830A>T) c.2257A>T (p.Lys753Ter) | |
| 8 | g.54626121del | CA2695209273 | RP1 | c.2239del (p.Ser747ValfsTer16) c.787+3833del (n.787+3833del) c.2260del (p.Ser754ValfsTer16) | |
| 8 | g.54626120_54626121del | CA2695209274 | RP1 | c.2238_2239del (p.Ser747Ter) c.787+3832_787+3833del (n.787+3832_787+3833del) c.2259_2260del (p.Ser754Ter) | |
| 8 | g.54626119A>C | CA370993103 | RP1 | c.2237A>C (p.Lys746Thr) c.787+3831A>C (n.787+3831A>C) c.2258A>C (p.Lys753Thr) | |
| 8 | g.54626119A>G | CA370993105 | RP1 | c.2237A>G (p.Lys746Arg) c.787+3831A>G (n.787+3831A>G) c.2258A>G (p.Lys753Arg) | gnomAD v4 |
| 8 | g.54626119A>T | CA370993106 | RP1 | c.2237A>T (p.Lys746Ile) c.787+3831A>T (n.787+3831A>T) c.2258A>T (p.Lys753Ile) | |
| 8 | g.54626120A>C | CA370993108 | RP1 | c.2238A>C (p.Lys746Asn) c.787+3832A>C (n.787+3832A>C) c.2259A>C (p.Lys753Asn) | |
| 8 | g.54626120A>G | CA461098838 | RP1 | c.2238A>G (p.Lys746=) c.787+3832A>G (n.787+3832A>G) c.2259A>G (p.Lys753=) | |
| 8 | g.54626120A>T | CA370993110 | RP1 | c.2238A>T (p.Lys746Asn) c.787+3832A>T (n.787+3832A>T) c.2259A>T (p.Lys753Asn) | |
| 8 | g.54626121A= | CA1785188172 | RP1 | c.2239A= (p.Ser747=) c.787+3833A= (n.787+3833A=) c.2260A= (p.Ser754=) | |
| 8 | g.54626121A>C | CA370993113 | RP1 | c.2239A>C (p.Ser747Arg) c.787+3833A>C (n.787+3833A>C) c.2260A>C (p.Ser754Arg) | |
| 8 | g.54626121A>G | CA370993114 | RP1 | c.2239A>G (p.Ser747Gly) c.787+3833A>G (n.787+3833A>G) c.2260A>G (p.Ser754Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626121A>T | CA370993116 | RP1 | c.2239A>T (p.Ser747Cys) c.787+3833A>T (n.787+3833A>T) c.2260A>T (p.Ser754Cys) | |
| 8 | g.54626122G>A | CA370993118 | RP1 | c.2240G>A (p.Ser747Asn) c.787+3834G>A (n.787+3834G>A) c.2261G>A (p.Ser754Asn) | COSMIC |
| 8 | g.54626122G>C | CA370993120 | RP1 | c.2240G>C (p.Ser747Thr) c.787+3834G>C (n.787+3834G>C) c.2261G>C (p.Ser754Thr) | |
| 8 | g.54626122G>T | CA370993121 | RP1 | c.2240G>T (p.Ser747Ile) c.787+3834G>T (n.787+3834G>T) c.2261G>T (p.Ser754Ile) | COSMIC |
| 8 | g.54626123T>A | CA370993125 | RP1 | c.2241T>A (p.Ser747Arg) c.787+3835T>A (n.787+3835T>A) c.2262T>A (p.Ser754Arg) | |
| 8 | g.54626123T>C | CA461098842 | RP1 | c.2241T>C (p.Ser747=) c.787+3835T>C (n.787+3835T>C) c.2262T>C (p.Ser754=) | |
| 8 | g.54626123T>G | CA370993123 | RP1 | c.2241T>G (p.Ser747Arg) c.787+3835T>G (n.787+3835T>G) c.2262T>G (p.Ser754Arg) | |
| 8 | g.54626124A>C | CA370993127 | RP1 | c.2242A>C (p.Asn748His) c.787+3836A>C (n.787+3836A>C) c.2263A>C (p.Asn755His) | |
| 8 | g.54626124A>G | CA370993131 | RP1 | c.2242A>G (p.Asn748Asp) c.787+3836A>G (n.787+3836A>G) c.2263A>G (p.Asn755Asp) | |
| 8 | g.54626124A>T | CA370993129 | RP1 | c.2242A>T (p.Asn748Tyr) c.787+3836A>T (n.787+3836A>T) c.2263A>T (p.Asn755Tyr) | |
| 8 | g.54626125del | CA2695209275 | RP1 | c.2243del (p.Asn748IlefsTer15) c.787+3837del (n.787+3837del) c.2264del (p.Asn755IlefsTer15) | |
| 8 | g.54626125A>C | CA370993133 | RP1 | c.2243A>C (p.Asn748Thr) c.787+3837A>C (n.787+3837A>C) c.2264A>C (p.Asn755Thr) | dbSNP gnomAD v4 |
| 8 | g.54626125A>G | CA370993137 | RP1 | c.2243A>G (p.Asn748Ser) c.787+3837A>G (n.787+3837A>G) c.2264A>G (p.Asn755Ser) | |
| 8 | g.54626125A>T | CA370993135 | RP1 | c.2243A>T (p.Asn748Ile) c.787+3837A>T (n.787+3837A>T) c.2264A>T (p.Asn755Ile) | |
| 8 | g.54626126T>A | CA370993138 | RP1 | c.2244T>A (p.Asn748Lys) c.787+3838T>A (n.787+3838T>A) c.2265T>A (p.Asn755Lys) | |
| 8 | g.54626126T>C | CA461098843 | RP1 | c.2244T>C (p.Asn748=) c.787+3838T>C (n.787+3838T>C) c.2265T>C (p.Asn755=) | |
| 8 | g.54626126T>G | CA370993140 | RP1 | c.2244T>G (p.Asn748Lys) c.787+3838T>G (n.787+3838T>G) c.2265T>G (p.Asn755Lys) | |
| 8 | g.54626127C>A | CA370993143 | RP1 | c.2245C>A (p.Leu749Ile) c.787+3839C>A (n.787+3839C>A) c.2266C>A (p.Leu756Ile) | |
| 8 | g.54626127C= | CA1785188173 | RP1 | c.2245C= (p.Leu749=) c.787+3839C= (n.787+3839C=) c.2266C= (p.Leu756=) | |
| 8 | g.54626127C>G | CA4751498 | RP1 | c.2245C>G (p.Leu749Val) c.787+3839C>G (n.787+3839C>G) c.2266C>G (p.Leu756Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626127C>T | CA4751497 | RP1 | c.2245C>T (p.Leu749Phe) c.787+3839C>T (n.787+3839C>T) c.2266C>T (p.Leu756Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626127_54626129del | CA2567508716 | RP1 | c.2245_2247del (p.Leu749del) c.787+3839_787+3841del (n.787+3839_787+3841del) c.2266_2268del (p.Leu756del) | |
| 8 | g.54626127_54626130delinsTGAG | CA2695209276 | RP1 | c.2245_2248delinsTGAG (p.Leu749Ter) c.787+3839_787+3842delinsTGAG (n.787+3839_787+3842delinsTGAG) c.2266_2269delinsTGAG (p.Leu756Ter) | |
| 8 | g.54626128T>A | CA370993146 | RP1 | c.2246T>A (p.Leu749His) c.787+3840T>A (n.787+3840T>A) c.2267T>A (p.Leu756His) | |
| 8 | g.54626128T>C | CA370993150 | RP1 | c.2246T>C (p.Leu749Pro) c.787+3840T>C (n.787+3840T>C) c.2267T>C (p.Leu756Pro) | |
| 8 | g.54626128T>G | CA370993148 | RP1 | c.2246T>G (p.Leu749Arg) c.787+3840T>G (n.787+3840T>G) c.2267T>G (p.Leu756Arg) | |
| 8 | g.54626129C>A | CA461098847 | RP1 | c.2247C>A (p.Leu749=) c.787+3841C>A (n.787+3841C>A) c.2268C>A (p.Leu756=) | |
| 8 | g.54626129C= | CA1785188174 | RP1 | c.2247C= (p.Leu749=) c.787+3841C= (n.787+3841C=) c.2268C= (p.Leu756=) | |
| 8 | g.54626129C>G | CA461098845 | RP1 | c.2247C>G (p.Leu749=) c.787+3841C>G (n.787+3841C>G) c.2268C>G (p.Leu756=) | ClinVar dbSNP |
| 8 | g.54626129C>T | CA461098846 | RP1 | c.2247C>T (p.Leu749=) c.787+3841C>T (n.787+3841C>T) c.2268C>T (p.Leu756=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626130A>C | CA370993152 | RP1 | c.2248A>C (p.Asn750His) c.787+3842A>C (n.787+3842A>C) c.2269A>C (p.Asn757His) | |
| 8 | g.54626130A>G | CA370993153 | RP1 | c.2248A>G (p.Asn750Asp) c.787+3842A>G (n.787+3842A>G) c.2269A>G (p.Asn757Asp) | gnomAD v4 |
| 8 | g.54626130A>T | CA370993155 | RP1 | c.2248A>T (p.Asn750Tyr) c.787+3842A>T (n.787+3842A>T) c.2269A>T (p.Asn757Tyr) | |
| 8 | g.54626131A>C | CA370993157 | RP1 | c.2249A>C (p.Asn750Thr) c.787+3843A>C (n.787+3843A>C) c.2270A>C (p.Asn757Thr) | |
| 8 | g.54626131A>G | CA370993159 | RP1 | c.2249A>G (p.Asn750Ser) c.787+3843A>G (n.787+3843A>G) c.2270A>G (p.Asn757Ser) | |
| 8 | g.54626131A>T | CA370993161 | RP1 | c.2249A>T (p.Asn750Ile) c.787+3843A>T (n.787+3843A>T) c.2270A>T (p.Asn757Ile) | |
| 8 | g.54626132T>A | CA370993163 | RP1 | c.2250T>A (p.Asn750Lys) c.787+3844T>A (n.787+3844T>A) c.2271T>A (p.Asn757Lys) | |
| 8 | g.54626132T>C | CA461098848 | RP1 | c.2250T>C (p.Asn750=) c.787+3844T>C (n.787+3844T>C) c.2271T>C (p.Asn757=) | |
| 8 | g.54626132T>G | CA370993165 | RP1 | c.2250T>G (p.Asn750Lys) c.787+3844T>G (n.787+3844T>G) c.2271T>G (p.Asn757Lys) | |
| 8 | g.54626133T>A | CA370993167 | RP1 | c.2251T>A (p.Ser751Thr) c.787+3845T>A (n.787+3845T>A) c.2272T>A (p.Ser758Thr) | |
| 8 | g.54626133T>C | CA370993168 | RP1 | c.2251T>C (p.Ser751Pro) c.787+3845T>C (n.787+3845T>C) c.2272T>C (p.Ser758Pro) | dbSNP |
| 8 | g.54626133T>G | CA370993170 | RP1 | c.2251T>G (p.Ser751Ala) c.787+3845T>G (n.787+3845T>G) c.2272T>G (p.Ser758Ala) | |
| 8 | g.54626133_54626136del | CA2550506882 | RP1 | c.2251_2254del (p.Ser751ArgfsTer11) c.787+3845_787+3848del (n.787+3845_787+3848del) c.2272_2275del (p.Ser758ArgfsTer11) | |
| 8 | g.54626134C>A | CA370993176 | RP1 | c.2252C>A (p.Ser751Tyr) c.787+3846C>A (n.787+3846C>A) c.2273C>A (p.Ser758Tyr) | gnomAD v4 |
| 8 | g.54626134C>G | CA370993172 | RP1 | c.2252C>G (p.Ser751Cys) c.787+3846C>G (n.787+3846C>G) c.2273C>G (p.Ser758Cys) | |
| 8 | g.54626134C>T | CA370993174 | RP1 | c.2252C>T (p.Ser751Phe) c.787+3846C>T (n.787+3846C>T) c.2273C>T (p.Ser758Phe) | ClinVar COSMIC |
| 8 | g.54626135C>A | CA461098850 | RP1 | c.2253C>A (p.Ser751=) c.787+3847C>A (n.787+3847C>A) c.2274C>A (p.Ser758=) | |
| 8 | g.54626135C>G | CA461098852 | RP1 | c.2253C>G (p.Ser751=) c.787+3847C>G (n.787+3847C>G) c.2274C>G (p.Ser758=) | |
| 8 | g.54626135C>T | CA461098851 | RP1 | c.2253C>T (p.Ser751=) c.787+3847C>T (n.787+3847C>T) c.2274C>T (p.Ser758=) | gnomAD v4 |
| 8 | g.54626136A= | CA1785188175 | RP1 | c.2254A= (p.Thr752=) c.787+3848A= (n.787+3848A=) c.2275A= (p.Thr759=) | |
| 8 | g.54626136A>C | CA370993178 | RP1 | c.2254A>C (p.Thr752Pro) c.787+3848A>C (n.787+3848A>C) c.2275A>C (p.Thr759Pro) | |
| 8 | g.54626136A>G | CA370993179 | RP1 | c.2254A>G (p.Thr752Ala) c.787+3848A>G (n.787+3848A>G) c.2275A>G (p.Thr759Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626136A>T | CA370993181 | RP1 | c.2254A>T (p.Thr752Ser) c.787+3848A>T (n.787+3848A>T) c.2275A>T (p.Thr759Ser) | |
| 8 | g.54626137C>A | CA177237066 | RP1 | c.2255C>A (p.Thr752Lys) c.787+3849C>A (n.787+3849C>A) c.2276C>A (p.Thr759Lys) | dbSNP gnomAD v4 |
| 8 | g.54626137C= | CA1785188176 | RP1 | c.2255C= (p.Thr752=) c.787+3849C= (n.787+3849C=) c.2276C= (p.Thr759=) | |
| 8 | g.54626137C>G | CA370993184 | RP1 | c.2255C>G (p.Thr752Arg) c.787+3849C>G (n.787+3849C>G) c.2276C>G (p.Thr759Arg) | COSMIC |
| 8 | g.54626137C>T | CA228913 | RP1 | c.2255C>T (p.Thr752Met) c.787+3849C>T (n.787+3849C>T) c.2276C>T (p.Thr759Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626137_54626138insCTGT | CA2519387757 | RP1 | c.2255_2256insCTGT (p.Ile753CysfsTer8) c.787+3849_787+3850insCTGT (n.787+3849_787+3850insCTGT) c.2276_2277insCTGT (p.Ile760CysfsTer8) | |
| 8 | g.54626138G>A | CA4751499 | RP1 | c.2256G>A (p.Thr752=) c.787+3850G>A (n.787+3850G>A) c.2277G>A (p.Thr759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626138G>C | CA461098854 | RP1 | c.2256G>C (p.Thr752=) c.787+3850G>C (n.787+3850G>C) c.2277G>C (p.Thr759=) | |
| 8 | g.54626138G= | CA1785188177 | RP1 | c.2256G= (p.Thr752=) c.787+3850G= (n.787+3850G=) c.2277G= (p.Thr759=) | |
| 8 | g.54626138G>T | CA461098855 | RP1 | c.2256G>T (p.Thr752=) c.787+3850G>T (n.787+3850G>T) c.2277G>T (p.Thr759=) | gnomAD v4 |
| 8 | g.54626139A= | CA1785188178 | RP1 | c.2257A= (p.Ile753=) c.787+3851A= (n.787+3851A=) c.2278A= (p.Ile760=) | |
| 8 | g.54626139A>C | CA370993188 | RP1 | c.2257A>C (p.Ile753Leu) c.787+3851A>C (n.787+3851A>C) c.2278A>C (p.Ile760Leu) | |
| 8 | g.54626139A>G | CA370993190 | RP1 | c.2257A>G (p.Ile753Val) c.787+3851A>G (n.787+3851A>G) c.2278A>G (p.Ile760Val) | dbSNP |
| 8 | g.54626139A>T | CA370993192 | RP1 | c.2257A>T (p.Ile753Phe) c.787+3851A>T (n.787+3851A>T) c.2278A>T (p.Ile760Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626140T>A | CA370993198 | RP1 | c.2258T>A (p.Ile753Asn) c.787+3852T>A (n.787+3852T>A) c.2279T>A (p.Ile760Asn) | |
| 8 | g.54626140T>C | CA370993196 | RP1 | c.2258T>C (p.Ile753Thr) c.787+3852T>C (n.787+3852T>C) c.2279T>C (p.Ile760Thr) | |
| 8 | g.54626140T>G | CA370993194 | RP1 | c.2258T>G (p.Ile753Ser) c.787+3852T>G (n.787+3852T>G) c.2279T>G (p.Ile760Ser) | gnomAD v4 |
| 8 | g.54626141T>A | CA461098857 | RP1 | c.2259T>A (p.Ile753=) c.787+3853T>A (n.787+3853T>A) c.2280T>A (p.Ile760=) | |
| 8 | g.54626141T>C | CA461098858 | RP1 | c.2259T>C (p.Ile753=) c.787+3853T>C (n.787+3853T>C) c.2280T>C (p.Ile760=) | |
| 8 | g.54626141T>G | CA370993200 | RP1 | c.2259T>G (p.Ile753Met) c.787+3853T>G (n.787+3853T>G) c.2280T>G (p.Ile760Met) | |
| 8 | g.54626141_54626145del | CA2780387010 | RP1 | c.2259_2263del (p.Ser754GlufsTer4) c.787+3853_787+3857del (n.787+3853_787+3857del) c.2280_2284del (p.Ser761GlufsTer4) | |
| 8 | g.54626142T>A | CA370993202 | RP1 | c.2260T>A (p.Ser754Thr) c.787+3854T>A (n.787+3854T>A) c.2281T>A (p.Ser761Thr) | |
| 8 | g.54626142T>C | CA370993203 | RP1 | c.2260T>C (p.Ser754Pro) c.787+3854T>C (n.787+3854T>C) c.2281T>C (p.Ser761Pro) | |
| 8 | g.54626142T>G | CA370993205 | RP1 | c.2260T>G (p.Ser754Ala) c.787+3854T>G (n.787+3854T>G) c.2281T>G (p.Ser761Ala) | |
| 8 | g.54626143C>A | CA370993207 | RP1 | c.2261C>A (p.Ser754Tyr) c.787+3855C>A (n.787+3855C>A) c.2282C>A (p.Ser761Tyr) | |
| 8 | g.54626143C>G | CA370993209 | RP1 | c.2261C>G (p.Ser754Cys) c.787+3855C>G (n.787+3855C>G) c.2282C>G (p.Ser761Cys) | |
| 8 | g.54626143C>T | CA370993211 | RP1 | c.2261C>T (p.Ser754Phe) c.787+3855C>T (n.787+3855C>T) c.2282C>T (p.Ser761Phe) | gnomAD v4 COSMIC |
| 8 | g.54626143_54626144insA | CA2780387011 | RP1 | c.2261_2262insA (p.Lys755GlnfsTer5) c.787+3855_787+3856insA (n.787+3855_787+3856insA) c.2282_2283insA (p.Lys762GlnfsTer5) | |
| 8 | g.54626144C>A | CA461098860 | RP1 | c.2262C>A (p.Ser754=) c.787+3856C>A (n.787+3856C>A) c.2283C>A (p.Ser761=) | |
| 8 | g.54626144C>G | CA461098862 | RP1 | c.2262C>G (p.Ser754=) c.787+3856C>G (n.787+3856C>G) c.2283C>G (p.Ser761=) | |
| 8 | g.54626144C>T | CA461098863 | RP1 | c.2262C>T (p.Ser754=) c.787+3856C>T (n.787+3856C>T) c.2283C>T (p.Ser761=) | |
| 8 | g.54626145A>C | CA370993213 | RP1 | c.2263A>C (p.Lys755Gln) c.787+3857A>C (n.787+3857A>C) c.2284A>C (p.Lys762Gln) | |
| 8 | g.54626145A>G | CA370993215 | RP1 | c.2263A>G (p.Lys755Glu) c.787+3857A>G (n.787+3857A>G) c.2284A>G (p.Lys762Glu) | |
| 8 | g.54626145A>T | CA370993217 | RP1 | c.2263A>T (p.Lys755Ter) c.787+3857A>T (n.787+3857A>T) c.2284A>T (p.Lys762Ter) | |
| 8 | g.54626146A>C | CA370993219 | RP1 | c.2264A>C (p.Lys755Thr) c.787+3858A>C (n.787+3858A>C) c.2285A>C (p.Lys762Thr) | |
| 8 | g.54626146A>G | CA370993221 | RP1 | c.2264A>G (p.Lys755Arg) c.787+3858A>G (n.787+3858A>G) c.2285A>G (p.Lys762Arg) | |
| 8 | g.54626146A>T | CA370993223 | RP1 | c.2264A>T (p.Lys755Met) c.787+3858A>T (n.787+3858A>T) c.2285A>T (p.Lys762Met) | |
| 8 | g.54626147G>A | CA461098864 | RP1 | c.2265G>A (p.Lys755=) c.787+3859G>A (n.787+3859G>A) c.2286G>A (p.Lys762=) | |
| 8 | g.54626147G>C | CA370993225 | RP1 | c.2265G>C (p.Lys755Asn) c.787+3859G>C (n.787+3859G>C) c.2286G>C (p.Lys762Asn) | |
| 8 | g.54626147G>T | CA370993227 | RP1 | c.2265G>T (p.Lys755Asn) c.787+3859G>T (n.787+3859G>T) c.2286G>T (p.Lys762Asn) | COSMIC |
| 8 | g.54626148A>C | CA370993228 | RP1 | c.2266A>C (p.Asn756His) c.787+3860A>C (n.787+3860A>C) c.2287A>C (p.Asn763His) | |
| 8 | g.54626148A>G | CA370993230 | RP1 | c.2266A>G (p.Asn756Asp) c.787+3860A>G (n.787+3860A>G) c.2287A>G (p.Asn763Asp) | |
| 8 | g.54626148A>T | CA370993232 | RP1 | c.2266A>T (p.Asn756Tyr) c.787+3860A>T (n.787+3860A>T) c.2287A>T (p.Asn763Tyr) | |
| 8 | g.54626149A>C | CA370993233 | RP1 | c.2267A>C (p.Asn756Thr) c.787+3861A>C (n.787+3861A>C) c.2288A>C (p.Asn763Thr) | |
| 8 | g.54626149A>G | CA370993235 | RP1 | c.2267A>G (p.Asn756Ser) c.787+3861A>G (n.787+3861A>G) c.2288A>G (p.Asn763Ser) | |
| 8 | g.54626149A>T | CA370993236 | RP1 | c.2267A>T (p.Asn756Ile) c.787+3861A>T (n.787+3861A>T) c.2288A>T (p.Asn763Ile) | |
| 8 | g.54626150T>A | CA370993238 | RP1 | c.2268T>A (p.Asn756Lys) c.787+3862T>A (n.787+3862T>A) c.2289T>A (p.Asn763Lys) | |
| 8 | g.54626150T>C | CA461098866 | RP1 | c.2268T>C (p.Asn756=) c.787+3862T>C (n.787+3862T>C) c.2289T>C (p.Asn763=) | |
| 8 | g.54626150T>G | CA370993240 | RP1 | c.2268T>G (p.Asn756Lys) c.787+3862T>G (n.787+3862T>G) c.2289T>G (p.Asn763Lys) | |
| 8 | g.54626151T>A | CA370993242 | RP1 | c.2269T>A (p.Phe757Ile) c.787+3863T>A (n.787+3863T>A) c.2290T>A (p.Phe764Ile) | |
| 8 | g.54626151T>C | CA370993243 | RP1 | c.2269T>C (p.Phe757Leu) c.787+3863T>C (n.787+3863T>C) c.2290T>C (p.Phe764Leu) | |
| 8 | g.54626151T>G | CA370993245 | RP1 | c.2269T>G (p.Phe757Val) c.787+3863T>G (n.787+3863T>G) c.2290T>G (p.Phe764Val) | |
| 8 | g.54626152T>A | CA370993251 | RP1 | c.2270T>A (p.Phe757Tyr) c.787+3864T>A (n.787+3864T>A) c.2291T>A (p.Phe764Tyr) | |
| 8 | g.54626152T>C | CA370993249 | RP1 | c.2270T>C (p.Phe757Ser) c.787+3864T>C (n.787+3864T>C) c.2291T>C (p.Phe764Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626152T>G | CA370993248 | RP1 | c.2270T>G (p.Phe757Cys) c.787+3864T>G (n.787+3864T>G) c.2291T>G (p.Phe764Cys) | |
| 8 | g.54626152T= | CA1785188179 | RP1 | c.2270T= (p.Phe757=) c.787+3864T= (n.787+3864T=) c.2291T= (p.Phe764=) | |
| 8 | g.54626153C>A | CA370993254 | RP1 | c.2271C>A (p.Phe757Leu) c.787+3865C>A (n.787+3865C>A) c.2292C>A (p.Phe764Leu) | |
| 8 | g.54626153C= | CA1785188180 | RP1 | c.2271C= (p.Phe757=) c.787+3865C= (n.787+3865C=) c.2292C= (p.Phe764=) | |
| 8 | g.54626153C>G | CA370993255 | RP1 | c.2271C>G (p.Phe757Leu) c.787+3865C>G (n.787+3865C>G) c.2292C>G (p.Phe764Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626153C>T | CA177237074 | RP1 | c.2271C>T (p.Phe757=) c.787+3865C>T (n.787+3865C>T) c.2292C>T (p.Phe764=) | dbSNP COSMIC |
| 8 | g.54626154del | CA2573143221 | RP1 | c.2272del (p.His758IlefsTer5) c.787+3866del (n.787+3866del) c.2293del (p.His765IlefsTer5) | ClinVar dbSNP |
| 8 | g.54626154C>A | CA370993258 | RP1 | c.2272C>A (p.His758Asn) c.787+3866C>A (n.787+3866C>A) c.2293C>A (p.His765Asn) | |
| 8 | g.54626154C>G | CA370993260 | RP1 | c.2272C>G (p.His758Asp) c.787+3866C>G (n.787+3866C>G) c.2293C>G (p.His765Asp) | |
| 8 | g.54626154C>T | CA370993262 | RP1 | c.2272C>T (p.His758Tyr) c.787+3866C>T (n.787+3866C>T) c.2293C>T (p.His765Tyr) | gnomAD v4 |
| 8 | g.54626155A= | CA1785188181 | RP1 | c.2273A= (p.His758=) c.787+3867A= (n.787+3867A=) c.2294A= (p.His765=) | |
| 8 | g.54626155A>C | CA370993264 | RP1 | c.2273A>C (p.His758Pro) c.787+3867A>C (n.787+3867A>C) c.2294A>C (p.His765Pro) | |
| 8 | g.54626155A>G | CA4751500 | RP1 | c.2273A>G (p.His758Arg) c.787+3867A>G (n.787+3867A>G) c.2294A>G (p.His765Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626155A>T | CA370993266 | RP1 | c.2273A>T (p.His758Leu) c.787+3867A>T (n.787+3867A>T) c.2294A>T (p.His765Leu) | |
| 8 | g.54626156T>A | CA370993268 | RP1 | c.2274T>A (p.His758Gln) c.787+3868T>A (n.787+3868T>A) c.2295T>A (p.His765Gln) | |
| 8 | g.54626156T>C | CA461098867 | RP1 | c.2274T>C (p.His758=) c.787+3868T>C (n.787+3868T>C) c.2295T>C (p.His765=) | dbSNP gnomAD v4 |
| 8 | g.54626156T>G | CA370993269 | RP1 | c.2274T>G (p.His758Gln) c.787+3868T>G (n.787+3868T>G) c.2295T>G (p.His765Gln) | |
| 8 | g.54626156T= | CA1785188182 | RP1 | c.2274T= (p.His758=) c.787+3868T= (n.787+3868T=) c.2295T= (p.His765=) | |
| 8 | g.54626157A>C | CA461098868 | RP1 | c.2275A>C (p.Arg759=) c.787+3869A>C (n.787+3869A>C) c.2296A>C (p.Arg766=) | |
| 8 | g.54626157A>G | CA370993272 | RP1 | c.2275A>G (p.Arg759Gly) c.787+3869A>G (n.787+3869A>G) c.2296A>G (p.Arg766Gly) | |
| 8 | g.54626157A>T | CA370993273 | RP1 | c.2275A>T (p.Arg759Ter) c.787+3869A>T (n.787+3869A>T) c.2296A>T (p.Arg766Ter) | |
| 8 | g.54626158G>A | CA177237080 | RP1 | c.2276G>A (p.Arg759Lys) c.787+3870G>A (n.787+3870G>A) c.2297G>A (p.Arg766Lys) | dbSNP COSMIC |
| 8 | g.54626158G>C | CA370993277 | RP1 | c.2276G>C (p.Arg759Thr) c.787+3870G>C (n.787+3870G>C) c.2297G>C (p.Arg766Thr) | |
| 8 | g.54626158G= | CA1785188183 | RP1 | c.2276G= (p.Arg759=) c.787+3870G= (n.787+3870G=) c.2297G= (p.Arg766=) | |
| 8 | g.54626158G>T | CA370993275 | RP1 | c.2276G>T (p.Arg759Ile) c.787+3870G>T (n.787+3870G>T) c.2297G>T (p.Arg766Ile) | dbSNP gnomAD v4 COSMIC |
| 8 | g.54626159A>C | CA370993280 | RP1 | c.2277A>C (p.Arg759Ser) c.787+3871A>C (n.787+3871A>C) c.2298A>C (p.Arg766Ser) | |
| 8 | g.54626159A>G | CA461098869 | RP1 | c.2277A>G (p.Arg759=) c.787+3871A>G (n.787+3871A>G) c.2298A>G (p.Arg766=) | |
| 8 | g.54626159A>T | CA370993282 | RP1 | c.2277A>T (p.Arg759Ser) c.787+3871A>T (n.787+3871A>T) c.2298A>T (p.Arg766Ser) | |
| 8 | g.54626160A= | CA1785188184 | RP1 | c.2278A= (p.Asn760=) c.787+3872A= (n.787+3872A=) c.2299A= (p.Asn767=) | |
| 8 | g.54626160A>C | CA370993284 | RP1 | c.2278A>C (p.Asn760His) c.787+3872A>C (n.787+3872A>C) c.2299A>C (p.Asn767His) | dbSNP gnomAD v4 |
| 8 | g.54626160A>G | CA370993285 | RP1 | c.2278A>G (p.Asn760Asp) c.787+3872A>G (n.787+3872A>G) c.2299A>G (p.Asn767Asp) | |
| 8 | g.54626160A>T | CA370993287 | RP1 | c.2278A>T (p.Asn760Tyr) c.787+3872A>T (n.787+3872A>T) c.2299A>T (p.Asn767Tyr) | |
| 8 | g.54626161A>C | CA370993289 | RP1 | c.2279A>C (p.Asn760Thr) c.787+3873A>C (n.787+3873A>C) c.2300A>C (p.Asn767Thr) | |
| 8 | g.54626161A>G | CA370993290 | RP1 | c.2279A>G (p.Asn760Ser) c.787+3873A>G (n.787+3873A>G) c.2300A>G (p.Asn767Ser) | |
| 8 | g.54626161A>T | CA370993292 | RP1 | c.2279A>T (p.Asn760Ile) c.787+3873A>T (n.787+3873A>T) c.2300A>T (p.Asn767Ile) | |
| 8 | g.54626161_54626166delinsATAAAT | CA1785188185 | RP1 | c.2279_2284delinsATAAAT (p.Asn760=) c.787+3873_787+3878delinsATAAAT (n.787+3873_787+3878delinsATAAAT) c.2300_2305delinsATAAAT (p.Asn767=) | |
| 8 | g.54626162T>A | CA177237085 | RP1 | c.2280T>A (p.Asn760Lys) c.787+3874T>A (n.787+3874T>A) c.2301T>A (p.Asn767Lys) | dbSNP |
| 8 | g.54626162T>C | CA461098870 | RP1 | c.2280T>C (p.Asn760=) c.787+3874T>C (n.787+3874T>C) c.2301T>C (p.Asn767=) | |
| 8 | g.54626162T>G | CA370993295 | RP1 | c.2280T>G (p.Asn760Lys) c.787+3874T>G (n.787+3874T>G) c.2301T>G (p.Asn767Lys) | |
| 8 | g.54626162T= | CA1785188186 | RP1 | c.2280T= (p.Asn760=) c.787+3874T= (n.787+3874T=) c.2301T= (p.Asn767=) | |
| 8 | g.54626167_54626171del | CA358684 | RP1 | c.2285_2289del (p.Leu762TyrfsTer17) c.787+3879_787+3883del (n.787+3879_787+3883del) c.2306_2310del (p.Leu769TyrfsTer17) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626163A= | CA1785188187 | RP1 | c.2281A= (p.Lys761=) c.787+3875A= (n.787+3875A=) c.2302A= (p.Lys768=) | |
| 8 | g.54626163A>C | CA370993298 | RP1 | c.2281A>C (p.Lys761Gln) c.787+3875A>C (n.787+3875A>C) c.2302A>C (p.Lys768Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626163A>G | CA370993300 | RP1 | c.2281A>G (p.Lys761Glu) c.787+3875A>G (n.787+3875A>G) c.2302A>G (p.Lys768Glu) | |
| 8 | g.54626163A>T | CA370993302 | RP1 | c.2281A>T (p.Lys761Ter) c.787+3875A>T (n.787+3875A>T) c.2302A>T (p.Lys768Ter) | |
| 8 | g.54626164A= | CA1785188188 | RP1 | c.2282A= (p.Lys761=) c.787+3876A= (n.787+3876A=) c.2303A= (p.Lys768=) | |
| 8 | g.54626164A>C | CA370993304 | RP1 | c.2282A>C (p.Lys761Thr) c.787+3876A>C (n.787+3876A>C) c.2303A>C (p.Lys768Thr) | |
| 8 | g.54626164A>G | CA370993307 | RP1 | c.2282A>G (p.Lys761Arg) c.787+3876A>G (n.787+3876A>G) c.2303A>G (p.Lys768Arg) | |
| 8 | g.54626164A>T | CA4751501 | RP1 | c.2282A>T (p.Lys761Ile) c.787+3876A>T (n.787+3876A>T) c.2303A>T (p.Lys768Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626165A>C | CA370993309 | RP1 | c.2283A>C (p.Lys761Asn) c.787+3877A>C (n.787+3877A>C) c.2304A>C (p.Lys768Asn) | |
| 8 | g.54626165A>G | CA461098871 | RP1 | c.2283A>G (p.Lys761=) c.787+3877A>G (n.787+3877A>G) c.2304A>G (p.Lys768=) | |
| 8 | g.54626165A>T | CA370993311 | RP1 | c.2283A>T (p.Lys761Asn) c.787+3877A>T (n.787+3877A>T) c.2304A>T (p.Lys768Asn) | |
| 8 | g.54626165_54626166insACCAAACACACCCAACACA | CA2780387012 | RP1 | c.2283_2284insACCAAACACACCCAACACA (p.Leu762ThrfsTer25) c.787+3877_787+3878insACCAAACACACCCAACACA (n.787+3877_787+3878insACCAAACACACCCAACACA) c.2304_2305insACCAAACACACCCAACACA (p.Leu769ThrfsTer25) | |
| 8 | g.54626166T>A | CA370993312 | RP1 | c.2284T>A (p.Leu762Ile) c.787+3878T>A (n.787+3878T>A) c.2305T>A (p.Leu769Ile) | |
| 8 | g.54626166T>C | CA461098872 | RP1 | c.2284T>C (p.Leu762=) c.787+3878T>C (n.787+3878T>C) c.2305T>C (p.Leu769=) | |
| 8 | g.54626166T>G | CA370993314 | RP1 | c.2284T>G (p.Leu762Val) c.787+3878T>G (n.787+3878T>G) c.2305T>G (p.Leu769Val) | |
| 8 | g.54626166_54626170delinsTTAAA | CA1785188189 | RP1 | c.2284_2288delinsTTAAA (p.Leu762=) c.787+3878_787+3882delinsTTAAA (n.787+3878_787+3882delinsTTAAA) c.2305_2309delinsTTAAA (p.Leu769=) | |
| 8 | g.54626166_54626171del | CA2695209277 | RP1 | c.2284_2289del (p.Leu762_Asn763del) c.787+3878_787+3883del (n.787+3878_787+3883del) c.2305_2310del (p.Leu769_Asn770del) | |
| 8 | g.54626167T>A | CA370993319 | RP1 | c.2285T>A (p.Leu762Ter) c.787+3879T>A (n.787+3879T>A) c.2306T>A (p.Leu769Ter) | ClinVar dbSNP |
| 8 | g.54626167T>C | CA370993317 | RP1 | c.2285T>C (p.Leu762Ser) c.787+3879T>C (n.787+3879T>C) c.2306T>C (p.Leu769Ser) | gnomAD v4 |
| 8 | g.54626167T>G | CA370993320 | RP1 | c.2285T>G (p.Leu762Ter) c.787+3879T>G (n.787+3879T>G) c.2306T>G (p.Leu769Ter) | |
| 8 | g.54626169_54626172del | CA358685 | RP1 | c.2287_2290del (p.Asn763LeufsTer11) c.787+3881_787+3884del (n.787+3881_787+3884del) c.2308_2311del (p.Asn770LeufsTer11) | ClinVar dbSNP |
| 8 | g.54626168A>C | CA370993321 | RP1 | c.2286A>C (p.Leu762Phe) c.787+3880A>C (n.787+3880A>C) c.2307A>C (p.Leu769Phe) | |
| 8 | g.54626168A>G | CA461098873 | RP1 | c.2286A>G (p.Leu762=) c.787+3880A>G (n.787+3880A>G) c.2307A>G (p.Leu769=) | |
| 8 | g.54626168A>T | CA370993323 | RP1 | c.2286A>T (p.Leu762Phe) c.787+3880A>T (n.787+3880A>T) c.2307A>T (p.Leu769Phe) | |
| 8 | g.54626170del | CA2695209278 | RP1 | c.2288del (p.Asn763IlefsTer12) c.787+3882del (n.787+3882del) c.2309del (p.Asn770IlefsTer12) | |
| 8 | g.54626171_54626181del | CA2695209279 | RP1 | c.2289_2299del (p.Asn763LysfsTer14) c.787+3883_787+3893del (n.787+3883_787+3893del) c.2310_2320del (p.Asn770LysfsTer14) | |
| 8 | g.54626169A>C | CA370993325 | RP1 | c.2287A>C (p.Asn763His) c.787+3881A>C (n.787+3881A>C) c.2308A>C (p.Asn770His) | |
| 8 | g.54626169A>G | CA370993326 | RP1 | c.2287A>G (p.Asn763Asp) c.787+3881A>G (n.787+3881A>G) c.2308A>G (p.Asn770Asp) | |
| 8 | g.54626169A>T | CA370993328 | RP1 | c.2287A>T (p.Asn763Tyr) c.787+3881A>T (n.787+3881A>T) c.2308A>T (p.Asn770Tyr) | |
| 8 | g.54626170A= | CA1785188190 | RP1 | c.2288A= (p.Asn763=) c.787+3882A= (n.787+3882A=) c.2309A= (p.Asn770=) | |
| 8 | g.54626170A>C | CA370993333 | RP1 | c.2288A>C (p.Asn763Thr) c.787+3882A>C (n.787+3882A>C) c.2309A>C (p.Asn770Thr) | dbSNP gnomAD v4 |
| 8 | g.54626170A>G | CA370993331 | RP1 | c.2288A>G (p.Asn763Ser) c.787+3882A>G (n.787+3882A>G) c.2309A>G (p.Asn770Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626170A>T | CA370993330 | RP1 | c.2288A>T (p.Asn763Ile) c.787+3882A>T (n.787+3882A>T) c.2309A>T (p.Asn770Ile) | |
| 8 | g.54626171T>A | CA370993335 | RP1 | c.2289T>A (p.Asn763Lys) c.787+3883T>A (n.787+3883T>A) c.2310T>A (p.Asn770Lys) | |
| 8 | g.54626171T>C | CA461098874 | RP1 | c.2289T>C (p.Asn763=) c.787+3883T>C (n.787+3883T>C) c.2310T>C (p.Asn770=) | |
| 8 | g.54626171T>G | CA370993337 | RP1 | c.2289T>G (p.Asn763Lys) c.787+3883T>G (n.787+3883T>G) c.2310T>G (p.Asn770Lys) | |
| 8 | g.54626172A= | CA1785188191 | RP1 | c.2290A= (p.Thr764=) c.787+3884A= (n.787+3884A=) c.2311A= (p.Thr771=) | |
| 8 | g.54626172A>C | CA370993338 | RP1 | c.2290A>C (p.Thr764Pro) c.787+3884A>C (n.787+3884A>C) c.2311A>C (p.Thr771Pro) | |
| 8 | g.54626172A>G | CA4751502 | RP1 | c.2290A>G (p.Thr764Ala) c.787+3884A>G (n.787+3884A>G) c.2311A>G (p.Thr771Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.54626172A>T | CA370993341 | RP1 | c.2290A>T (p.Thr764Ser) c.787+3884A>T (n.787+3884A>T) c.2311A>T (p.Thr771Ser) | gnomAD v4 |
| 8 | g.54626172dup | CA2739290087 | RP1 | c.2290dup (p.Thr764AsnfsTer17) c.787+3884dup (n.787+3884dup) c.2311dup (p.Thr771AsnfsTer17) | |
| 8 | g.54626173C>A | CA370993342 | RP1 | c.2291C>A (p.Thr764Asn) c.787+3885C>A (n.787+3885C>A) c.2312C>A (p.Thr771Asn) | |
| 8 | g.54626173C>G | CA370993343 | RP1 | c.2291C>G (p.Thr764Ser) c.787+3885C>G (n.787+3885C>G) c.2312C>G (p.Thr771Ser) | |
| 8 | g.54626173C>T | CA370993345 | RP1 | c.2291C>T (p.Thr764Ile) c.787+3885C>T (n.787+3885C>T) c.2312C>T (p.Thr771Ile) | |
| 8 | g.54626173_54626174insACCC | CA2780387013 | RP1 | c.2291_2292insACCC (p.Thr765ProfsTer17) c.787+3885_787+3886insACCC (n.787+3885_787+3886insACCC) c.2312_2313insACCC (p.Thr772ProfsTer17) | |
| 8 | g.54626174T>A | CA461098875 | RP1 | c.2292T>A (p.Thr764=) c.787+3886T>A (n.787+3886T>A) c.2313T>A (p.Thr771=) | |
| 8 | g.54626174T>C | CA4751503 | RP1 | c.2292T>C (p.Thr764=) c.787+3886T>C (n.787+3886T>C) c.2313T>C (p.Thr771=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626174T>G | CA461098876 | RP1 | c.2292T>G (p.Thr764=) c.787+3886T>G (n.787+3886T>G) c.2313T>G (p.Thr771=) | |
| 8 | g.54626174T= | CA1785188192 | RP1 | c.2292T= (p.Thr764=) c.787+3886T= (n.787+3886T=) c.2313T= (p.Thr771=) | |
| 8 | g.54626175A= | CA1785188193 | RP1 | c.2293A= (p.Thr765=) c.787+3887A= (n.787+3887A=) c.2314A= (p.Thr772=) | |
| 8 | g.54626175A>C | CA370993351 | RP1 | c.2293A>C (p.Thr765Pro) c.787+3887A>C (n.787+3887A>C) c.2314A>C (p.Thr772Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626175A>G | CA370993352 | RP1 | c.2293A>G (p.Thr765Ala) c.787+3887A>G (n.787+3887A>G) c.2314A>G (p.Thr772Ala) | |
| 8 | g.54626175A>T | CA370993349 | RP1 | c.2293A>T (p.Thr765Ser) c.787+3887A>T (n.787+3887A>T) c.2314A>T (p.Thr772Ser) | |
| 8 | g.54626176C>A | CA370993354 | RP1 | c.2294C>A (p.Thr765Asn) c.787+3888C>A (n.787+3888C>A) c.2315C>A (p.Thr772Asn) | |
| 8 | g.54626176C= | CA1785188194 | RP1 | c.2294C= (p.Thr765=) c.787+3888C= (n.787+3888C=) c.2315C= (p.Thr772=) | |
| 8 | g.54626176C>G | CA370993353 | RP1 | c.2294C>G (p.Thr765Ser) c.787+3888C>G (n.787+3888C>G) c.2315C>G (p.Thr772Ser) | |
| 8 | g.54626176C>T | CA370993355 | RP1 | c.2294C>T (p.Thr765Ile) c.787+3888C>T (n.787+3888C>T) c.2315C>T (p.Thr772Ile) | dbSNP gnomAD v4 COSMIC |
| 8 | g.54626177T>A | CA461098877 | RP1 | c.2295T>A (p.Thr765=) c.787+3889T>A (n.787+3889T>A) c.2316T>A (p.Thr772=) | |
| 8 | g.54626177T>C | CA461098878 | RP1 | c.2295T>C (p.Thr765=) c.787+3889T>C (n.787+3889T>C) c.2316T>C (p.Thr772=) | |
| 8 | g.54626177T>G | CA461098879 | RP1 | c.2295T>G (p.Thr765=) c.787+3889T>G (n.787+3889T>G) c.2316T>G (p.Thr772=) | |
| 8 | g.54626178C>A | CA4751504 | RP1 | c.2296C>A (p.Gln766Lys) c.787+3890C>A (n.787+3890C>A) c.2317C>A (p.Gln773Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626178C= | CA1785188195 | RP1 | c.2296C= (p.Gln766=) c.787+3890C= (n.787+3890C=) c.2317C= (p.Gln773=) | |
| 8 | g.54626178C>G | CA370993357 | RP1 | c.2296C>G (p.Gln766Glu) c.787+3890C>G (n.787+3890C>G) c.2317C>G (p.Gln773Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626178C>T | CA370993358 | RP1 | c.2296C>T (p.Gln766Ter) c.787+3890C>T (n.787+3890C>T) c.2317C>T (p.Gln773Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626179A>C | CA370993359 | RP1 | c.2297A>C (p.Gln766Pro) c.787+3891A>C (n.787+3891A>C) c.2318A>C (p.Gln773Pro) | |
| 8 | g.54626179A>G | CA370993360 | RP1 | c.2297A>G (p.Gln766Arg) c.787+3891A>G (n.787+3891A>G) c.2318A>G (p.Gln773Arg) | dbSNP |
| 8 | g.54626179A>T | CA370993361 | RP1 | c.2297A>T (p.Gln766Leu) c.787+3891A>T (n.787+3891A>T) c.2318A>T (p.Gln773Leu) | |
| 8 | g.54626180A>C | CA370993362 | RP1 | c.2298A>C (p.Gln766His) c.787+3892A>C (n.787+3892A>C) c.2319A>C (p.Gln773His) | |
| 8 | g.54626180A>G | CA461098880 | RP1 | c.2298A>G (p.Gln766=) c.787+3892A>G (n.787+3892A>G) c.2319A>G (p.Gln773=) | |
| 8 | g.54626180A>T | CA370993363 | RP1 | c.2298A>T (p.Gln766His) c.787+3892A>T (n.787+3892A>T) c.2319A>T (p.Gln773His) | |
| 8 | g.54626181A>C | CA370993364 | RP1 | c.2299A>C (p.Asn767His) c.787+3893A>C (n.787+3893A>C) c.2320A>C (p.Asn774His) | |
| 8 | g.54626181A>G | CA370993365 | RP1 | c.2299A>G (p.Asn767Asp) c.787+3893A>G (n.787+3893A>G) c.2320A>G (p.Asn774Asp) | |
| 8 | g.54626181A>T | CA370993366 | RP1 | c.2299A>T (p.Asn767Tyr) c.787+3893A>T (n.787+3893A>T) c.2320A>T (p.Asn774Tyr) | |
| 8 | g.54626182A>C | CA370993369 | RP1 | c.2300A>C (p.Asn767Thr) c.787+3894A>C (n.787+3894A>C) c.2321A>C (p.Asn774Thr) | |
| 8 | g.54626182A>G | CA370993367 | RP1 | c.2300A>G (p.Asn767Ser) c.787+3894A>G (n.787+3894A>G) c.2321A>G (p.Asn774Ser) | |
| 8 | g.54626182A>T | CA370993368 | RP1 | c.2300A>T (p.Asn767Ile) c.787+3894A>T (n.787+3894A>T) c.2321A>T (p.Asn774Ile) | |
| 8 | g.54626183T>A | CA370993370 | RP1 | c.2301T>A (p.Asn767Lys) c.787+3895T>A (n.787+3895T>A) c.2322T>A (p.Asn774Lys) | |
| 8 | g.54626183T>C | CA461098881 | RP1 | c.2301T>C (p.Asn767=) c.787+3895T>C (n.787+3895T>C) c.2322T>C (p.Asn774=) | |
| 8 | g.54626183T>G | CA370993371 | RP1 | c.2301T>G (p.Asn767Lys) c.787+3895T>G (n.787+3895T>G) c.2322T>G (p.Asn774Lys) | |
| 8 | g.54626184T>A | CA370993373 | RP1 | c.2302T>A (p.Ser768Thr) c.787+3896T>A (n.787+3896T>A) c.2323T>A (p.Ser775Thr) | gnomAD v4 |
| 8 | g.54626184T>C | CA370993374 | RP1 | c.2302T>C (p.Ser768Pro) c.787+3896T>C (n.787+3896T>C) c.2323T>C (p.Ser775Pro) | |
| 8 | g.54626184T>G | CA370993375 | RP1 | c.2302T>G (p.Ser768Ala) c.787+3896T>G (n.787+3896T>G) c.2323T>G (p.Ser775Ala) | |
| 8 | g.54626185C>A | CA370993376 | RP1 | c.2303C>A (p.Ser768Tyr) c.787+3897C>A (n.787+3897C>A) c.2324C>A (p.Ser775Tyr) | |
| 8 | g.54626185C= | CA1785188196 | RP1 | c.2303C= (p.Ser768=) c.787+3897C= (n.787+3897C=) c.2324C= (p.Ser775=) | |
| 8 | g.54626185C>G | CA370993377 | RP1 | c.2303C>G (p.Ser768Cys) c.787+3897C>G (n.787+3897C>G) c.2324C>G (p.Ser775Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54626185C>T | CA370993378 | RP1 | c.2303C>T (p.Ser768Phe) c.787+3897C>T (n.787+3897C>T) c.2324C>T (p.Ser775Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54626186del | CA2695209280 | RP1 | c.2304del (p.Lys769ArgfsTer6) c.787+3898del (n.787+3898del) c.2325del (p.Lys776ArgfsTer6) | |
| 8 | g.54626186C>A | CA461098882 | RP1 | c.2304C>A (p.Ser768=) c.787+3898C>A (n.787+3898C>A) c.2325C>A (p.Ser775=) | gnomAD v4 |
| 8 | g.54626186C>G | CA461098883 | RP1 | c.2304C>G (p.Ser768=) c.787+3898C>G (n.787+3898C>G) c.2325C>G (p.Ser775=) | |
| 8 | g.54626186C>T | CA461098884 | RP1 | c.2304C>T (p.Ser768=) c.787+3898C>T (n.787+3898C>T) c.2325C>T (p.Ser775=) | COSMIC |
| 8 | g.54626187_54626199del | CA2695209281 | RP1 | c.2305_2317del (p.Lys769PhefsTer2) c.787+3899_787+3911del (n.787+3899_787+3911del) c.2326_2338del (p.Lys776PhefsTer2) | |
| 8 | g.54626187A= | CA1785188197 | RP1 | c.2305A= (p.Lys769=) c.787+3899A= (n.787+3899A=) c.2326A= (p.Lys776=) | |
| 8 | g.54626187A>C | CA370993379 | RP1 | c.2305A>C (p.Lys769Gln) c.787+3899A>C (n.787+3899A>C) c.2326A>C (p.Lys776Gln) | dbSNP gnomAD v4 |
| 8 | g.54626187A>G | CA370993380 | RP1 | c.2305A>G (p.Lys769Glu) c.787+3899A>G (n.787+3899A>G) c.2326A>G (p.Lys776Glu) | |
| 8 | g.54626187A>T | CA370993381 | RP1 | c.2305A>T (p.Lys769Ter) c.787+3899A>T (n.787+3899A>T) c.2326A>T (p.Lys776Ter) | ClinVar dbSNP |
| 8 | g.54626188A= | CA1785188198 | RP1 | c.2306A= (p.Lys769=) c.787+3900A= (n.787+3900A=) c.2327A= (p.Lys776=) | |
| 8 | g.54626188A>C | CA370993383 | RP1 | c.2306A>C (p.Lys769Thr) c.787+3900A>C (n.787+3900A>C) c.2327A>C (p.Lys776Thr) | |
| 8 | g.54626188A>G | CA370993384 | RP1 | c.2306A>G (p.Lys769Arg) c.787+3900A>G (n.787+3900A>G) c.2327A>G (p.Lys776Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626188A>T | CA370993382 | RP1 | c.2306A>T (p.Lys769Met) c.787+3900A>T (n.787+3900A>T) c.2327A>T (p.Lys776Met) | |
| 8 | g.54626189G>A | CA461098885 | RP1 | c.2307G>A (p.Lys769=) c.787+3901G>A (n.787+3901G>A) c.2328G>A (p.Lys776=) | |
| 8 | g.54626189G>C | CA370993385 | RP1 | c.2307G>C (p.Lys769Asn) c.787+3901G>C (n.787+3901G>C) c.2328G>C (p.Lys776Asn) | ClinVar dbSNP |
| 8 | g.54626189G>T | CA370993386 | RP1 | c.2307G>T (p.Lys769Asn) c.787+3901G>T (n.787+3901G>T) c.2328G>T (p.Lys776Asn) | |
| 8 | g.54626190G>A | CA4751505 | RP1 | c.2308G>A (p.Val770Ile) c.787+3902G>A (n.787+3902G>A) c.2329G>A (p.Val777Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626190G>C | CA370993387 | RP1 | c.2308G>C (p.Val770Leu) c.787+3902G>C (n.787+3902G>C) c.2329G>C (p.Val777Leu) | dbSNP |
| 8 | g.54626190G= | CA1785188199 | RP1 | c.2308G= (p.Val770=) c.787+3902G= (n.787+3902G=) c.2329G= (p.Val777=) | |
| 8 | g.54626190G>T | CA370993388 | RP1 | c.2308G>T (p.Val770Phe) c.787+3902G>T (n.787+3902G>T) c.2329G>T (p.Val777Phe) | |
| 8 | g.54626190_54626191delinsGT | CA1785188200 | RP1 | c.2308_2309delinsGT (p.Val770=) c.787+3902_787+3903delinsGT (n.787+3902_787+3903delinsGT) c.2329_2330delinsGT (p.Val777=) | |
| 8 | g.54626191T>A | CA370993391 | RP1 | c.2309T>A (p.Val770Asp) c.787+3903T>A (n.787+3903T>A) c.2330T>A (p.Val777Asp) | |
| 8 | g.54626191T>C | CA370993390 | RP1 | c.2309T>C (p.Val770Ala) c.787+3903T>C (n.787+3903T>C) c.2330T>C (p.Val777Ala) | |
| 8 | g.54626191T>G | CA370993389 | RP1 | c.2309T>G (p.Val770Gly) c.787+3903T>G (n.787+3903T>G) c.2330T>G (p.Val777Gly) | |
| 8 | g.54626192del | CA1139660533 | RP1 | c.2310del (p.Gln771LysfsTer4) c.787+3904del (n.787+3904del) c.2331del (p.Gln778LysfsTer4) | ClinVar dbSNP |
| 8 | g.54626192T>A | CA461098888 | RP1 | c.2310T>A (p.Val770=) c.787+3904T>A (n.787+3904T>A) c.2331T>A (p.Val777=) | |
| 8 | g.54626192T>C | CA461098887 | RP1 | c.2310T>C (p.Val770=) c.787+3904T>C (n.787+3904T>C) c.2331T>C (p.Val777=) | |
| 8 | g.54626192T>G | CA461098886 | RP1 | c.2310T>G (p.Val770=) c.787+3904T>G (n.787+3904T>G) c.2331T>G (p.Val777=) | ClinVar |
| 8 | g.54626193C>A | CA370993392 | RP1 | c.2311C>A (p.Gln771Lys) c.787+3905C>A (n.787+3905C>A) c.2332C>A (p.Gln778Lys) | |
| 8 | g.54626193C>G | CA370993393 | RP1 | c.2311C>G (p.Gln771Glu) c.787+3905C>G (n.787+3905C>G) c.2332C>G (p.Gln778Glu) | COSMIC |
| 8 | g.54626193C>T | CA370993394 | RP1 | c.2311C>T (p.Gln771Ter) c.787+3905C>T (n.787+3905C>T) c.2332C>T (p.Gln778Ter) | |
| 8 | g.54626194A>C | CA370993395 | RP1 | c.2312A>C (p.Gln771Pro) c.787+3906A>C (n.787+3906A>C) c.2333A>C (p.Gln778Pro) | |
| 8 | g.54626194A>G | CA370993396 | RP1 | c.2312A>G (p.Gln771Arg) c.787+3906A>G (n.787+3906A>G) c.2333A>G (p.Gln778Arg) | gnomAD v4 |
| 8 | g.54626194A>T | CA370993397 | RP1 | c.2312A>T (p.Gln771Leu) c.787+3906A>T (n.787+3906A>T) c.2333A>T (p.Gln778Leu) | |
| 8 | g.54626195A= | CA1785188201 | RP1 | c.2313A= (p.Gln771=) c.787+3907A= (n.787+3907A=) c.2334A= (p.Gln778=) | |
| 8 | g.54626195A>C | CA370993398 | RP1 | c.2313A>C (p.Gln771His) c.787+3907A>C (n.787+3907A>C) c.2334A>C (p.Gln778His) | |
| 8 | g.54626195A>G | CA177237097 | RP1 | c.2313A>G (p.Gln771=) c.787+3907A>G (n.787+3907A>G) c.2334A>G (p.Gln778=) | dbSNP |
| 8 | g.54626195A>T | CA370993399 | RP1 | c.2313A>T (p.Gln771His) c.787+3907A>T (n.787+3907A>T) c.2334A>T (p.Gln778His) | |
| 8 | g.54626196G>A | CA370993400 | RP1 | c.2314G>A (p.Gly772Arg) c.787+3908G>A (n.787+3908G>A) c.2335G>A (p.Gly779Arg) | gnomAD v4 COSMIC |
| 8 | g.54626196G>C | CA370993401 | RP1 | c.2314G>C (p.Gly772Arg) c.787+3908G>C (n.787+3908G>C) c.2335G>C (p.Gly779Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626196G= | CA1785188202 | RP1 | c.2314G= (p.Gly772=) c.787+3908G= (n.787+3908G=) c.2335G= (p.Gly779=) | |
| 8 | g.54626196G>T | CA370993402 | RP1 | c.2314G>T (p.Gly772Ter) c.787+3908G>T (n.787+3908G>T) c.2335G>T (p.Gly779Ter) | |
| 8 | g.54626197G>A | CA370993403 | RP1 | c.2315G>A (p.Gly772Glu) c.787+3909G>A (n.787+3909G>A) c.2336G>A (p.Gly779Glu) | COSMIC |
| 8 | g.54626197G>C | CA370993404 | RP1 | c.2315G>C (p.Gly772Ala) c.787+3909G>C (n.787+3909G>C) c.2336G>C (p.Gly779Ala) | |
| 8 | g.54626197G>T | CA370993405 | RP1 | c.2315G>T (p.Gly772Val) c.787+3909G>T (n.787+3909G>T) c.2336G>T (p.Gly779Val) | |
| 8 | g.54626198A>C | CA461098889 | RP1 | c.2316A>C (p.Gly772=) c.787+3910A>C (n.787+3910A>C) c.2337A>C (p.Gly779=) | gnomAD v4 |
| 8 | g.54626198A>G | CA461098891 | RP1 | c.2316A>G (p.Gly772=) c.787+3910A>G (n.787+3910A>G) c.2337A>G (p.Gly779=) | |
| 8 | g.54626198A>T | CA461098890 | RP1 | c.2316A>T (p.Gly772=) c.787+3910A>T (n.787+3910A>T) c.2337A>T (p.Gly779=) | |
| 8 | g.54626199C>A | CA177237100 | RP1 | c.2317C>A (p.Leu773Ile) c.787+3911C>A (n.787+3911C>A) c.2338C>A (p.Leu780Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626199C= | CA1785188204 | RP1 | c.2317C= (p.Leu773=) c.787+3911C= (n.787+3911C=) c.2338C= (p.Leu780=) | |
| 8 | g.54626199C>G | CA370993406 | RP1 | c.2317C>G (p.Leu773Val) c.787+3911C>G (n.787+3911C>G) c.2338C>G (p.Leu780Val) | |
| 8 | g.54626199C>T | CA370993407 | RP1 | c.2317C>T (p.Leu773Phe) c.787+3911C>T (n.787+3911C>T) c.2338C>T (p.Leu780Phe) | |
| 8 | g.54626199_54626200delinsCT | CA1785188203 | RP1 | c.2317_2318delinsCT (p.Leu773=) c.787+3911_787+3912delinsCT (n.787+3911_787+3912delinsCT) c.2338_2339delinsCT (p.Leu780=) | |
| 8 | g.54626200T>A | CA370993408 | RP1 | c.2318T>A (p.Leu773His) c.787+3912T>A (n.787+3912T>A) c.2339T>A (p.Leu780His) | |
| 8 | g.54626200T>C | CA370993409 | RP1 | c.2318T>C (p.Leu773Pro) c.787+3912T>C (n.787+3912T>C) c.2339T>C (p.Leu780Pro) | |
| 8 | g.54626200T>G | CA370993410 | RP1 | c.2318T>G (p.Leu773Arg) c.787+3912T>G (n.787+3912T>G) c.2339T>G (p.Leu780Arg) | |
| 8 | g.54626203del | CA645509468 | RP1 | c.2321del (p.Leu774Ter) c.787+3915del (n.787+3915del) c.2342del (p.Leu781Ter) | ClinVar dbSNP |
| 8 | g.54626201T>A | CA461098892 | RP1 | c.2319T>A (p.Leu773=) c.787+3913T>A (n.787+3913T>A) c.2340T>A (p.Leu780=) | |
| 8 | g.54626201T>C | CA461098893 | RP1 | c.2319T>C (p.Leu773=) c.787+3913T>C (n.787+3913T>C) c.2340T>C (p.Leu780=) | gnomAD v4 |
| 8 | g.54626201T>G | CA461098894 | RP1 | c.2319T>G (p.Leu773=) c.787+3913T>G (n.787+3913T>G) c.2340T>G (p.Leu780=) | |
| 8 | g.54626202T>A | CA370993412 | RP1 | c.2320T>A (p.Leu774Ile) c.787+3914T>A (n.787+3914T>A) c.2341T>A (p.Leu781Ile) | |
| 8 | g.54626202T>C | CA461098895 | RP1 | c.2320T>C (p.Leu774=) c.787+3914T>C (n.787+3914T>C) c.2341T>C (p.Leu781=) | |
| 8 | g.54626202T>G | CA370993411 | RP1 | c.2320T>G (p.Leu774Val) c.787+3914T>G (n.787+3914T>G) c.2341T>G (p.Leu781Val) | |
| 8 | g.54626203T>A | CA370993413 | RP1 | c.2321T>A (p.Leu774Ter) c.787+3915T>A (n.787+3915T>A) c.2342T>A (p.Leu781Ter) | |
| 8 | g.54626203T>C | CA370993415 | RP1 | c.2321T>C (p.Leu774Ser) c.787+3915T>C (n.787+3915T>C) c.2342T>C (p.Leu781Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626203T>G | CA370993414 | RP1 | c.2321T>G (p.Leu774Ter) c.787+3915T>G (n.787+3915T>G) c.2342T>G (p.Leu781Ter) | ClinVar dbSNP |
| 8 | g.54626203T= | CA1785188205 | RP1 | c.2321T= (p.Leu774=) c.787+3915T= (n.787+3915T=) c.2342T= (p.Leu781=) | |
| 8 | g.54626204A>C | CA370993416 | RP1 | c.2322A>C (p.Leu774Phe) c.787+3916A>C (n.787+3916A>C) c.2343A>C (p.Leu781Phe) | |
| 8 | g.54626204A>G | CA461098896 | RP1 | c.2322A>G (p.Leu774=) c.787+3916A>G (n.787+3916A>G) c.2343A>G (p.Leu781=) | |
| 8 | g.54626204A>T | CA370993417 | RP1 | c.2322A>T (p.Leu774Phe) c.787+3916A>T (n.787+3916A>T) c.2343A>T (p.Leu781Phe) | |
| 8 | g.54626205del | CA2573143222 | RP1 | c.2323del (p.Thr775ProfsTer8) c.787+3917del (n.787+3917del) c.2344del (p.Thr782ProfsTer8) | ClinVar dbSNP |
| 8 | g.54626205A>C | CA370993418 | RP1 | c.2323A>C (p.Thr775Pro) c.787+3917A>C (n.787+3917A>C) c.2344A>C (p.Thr782Pro) | |
| 8 | g.54626205A>G | CA370993419 | RP1 | c.2323A>G (p.Thr775Ala) c.787+3917A>G (n.787+3917A>G) c.2344A>G (p.Thr782Ala) | |
| 8 | g.54626205A>T | CA370993420 | RP1 | c.2323A>T (p.Thr775Ser) c.787+3917A>T (n.787+3917A>T) c.2344A>T (p.Thr782Ser) | |
| 8 | g.54626206C>A | CA370993421 | RP1 | c.2324C>A (p.Thr775Asn) c.787+3918C>A (n.787+3918C>A) c.2345C>A (p.Thr782Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626206C= | CA1785188206 | RP1 | c.2324C= (p.Thr775=) c.787+3918C= (n.787+3918C=) c.2345C= (p.Thr782=) | |
| 8 | g.54626206C>G | CA370993422 | RP1 | c.2324C>G (p.Thr775Ser) c.787+3918C>G (n.787+3918C>G) c.2345C>G (p.Thr782Ser) | dbSNP |
| 8 | g.54626206C>T | CA4751506 | RP1 | c.2324C>T (p.Thr775Ile) c.787+3918C>T (n.787+3918C>T) c.2345C>T (p.Thr782Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626206_54626207insA | CA2780387014 | RP1 | c.2324_2325insA (p.Lys776GlnfsTer5) c.787+3918_787+3919insA (n.787+3918_787+3919insA) c.2345_2346insA (p.Lys783GlnfsTer5) | |
| 8 | g.54626207C>A | CA461098899 | RP1 | c.2325C>A (p.Thr775=) c.787+3919C>A (n.787+3919C>A) c.2346C>A (p.Thr782=) | |
| 8 | g.54626207C>G | CA461098898 | RP1 | c.2325C>G (p.Thr775=) c.787+3919C>G (n.787+3919C>G) c.2346C>G (p.Thr782=) | |
| 8 | g.54626207C>T | CA461098897 | RP1 | c.2325C>T (p.Thr775=) c.787+3919C>T (n.787+3919C>T) c.2346C>T (p.Thr782=) | |
| 8 | g.54626208A>C | CA370993423 | RP1 | c.2326A>C (p.Lys776Gln) c.787+3920A>C (n.787+3920A>C) c.2347A>C (p.Lys783Gln) | |
| 8 | g.54626208A>G | CA370993424 | RP1 | c.2326A>G (p.Lys776Glu) c.787+3920A>G (n.787+3920A>G) c.2347A>G (p.Lys783Glu) | |
| 8 | g.54626208A>T | CA370993425 | RP1 | c.2326A>T (p.Lys776Ter) c.787+3920A>T (n.787+3920A>T) c.2347A>T (p.Lys783Ter) | |
| 8 | g.54626211dup | CA2695209282 | RP1 | c.2329dup (p.Arg777LysfsTer4) c.787+3923dup (n.787+3923dup) c.2350dup (p.Arg784LysfsTer4) | |
| 8 | g.54626209A>C | CA370993428 | RP1 | c.2327A>C (p.Lys776Thr) c.787+3921A>C (n.787+3921A>C) c.2348A>C (p.Lys783Thr) | |
| 8 | g.54626209A>G | CA370993427 | RP1 | c.2327A>G (p.Lys776Arg) c.787+3921A>G (n.787+3921A>G) c.2348A>G (p.Lys783Arg) | |
| 8 | g.54626209A>T | CA370993426 | RP1 | c.2327A>T (p.Lys776Ile) c.787+3921A>T (n.787+3921A>T) c.2348A>T (p.Lys783Ile) | |
| 8 | g.54626210A>C | CA370993429 | RP1 | c.2328A>C (p.Lys776Asn) c.787+3922A>C (n.787+3922A>C) c.2349A>C (p.Lys783Asn) | |
| 8 | g.54626210A>G | CA461098900 | RP1 | c.2328A>G (p.Lys776=) c.787+3922A>G (n.787+3922A>G) c.2349A>G (p.Lys783=) | |
| 8 | g.54626210A>T | CA370993431 | RP1 | c.2328A>T (p.Lys776Asn) c.787+3922A>T (n.787+3922A>T) c.2349A>T (p.Lys783Asn) | |
| 8 | g.54626211A= | CA1785188207 | RP1 | c.2329A= (p.Arg777=) c.787+3923A= (n.787+3923A=) c.2350A= (p.Arg784=) | |
| 8 | g.54626211A>C | CA461098901 | RP1 | c.2329A>C (p.Arg777=) c.787+3923A>C (n.787+3923A>C) c.2350A>C (p.Arg784=) | |
| 8 | g.54626211A>G | CA177237105 | RP1 | c.2329A>G (p.Arg777Gly) c.787+3923A>G (n.787+3923A>G) c.2350A>G (p.Arg784Gly) | dbSNP gnomAD v4 |
| 8 | g.54626211A>T | CA370993432 | RP1 | c.2329A>T (p.Arg777Ter) c.787+3923A>T (n.787+3923A>T) c.2350A>T (p.Arg784Ter) |