| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 8 | g.54626212G>A | CA370993433 | RP1 | c.2330G>A (p.Arg777Lys) c.787+3924G>A (n.787+3924G>A) c.2351G>A (p.Arg784Lys) | COSMIC |
| 8 | g.54626212G>C | CA370993434 | RP1 | c.2330G>C (p.Arg777Thr) c.787+3924G>C (n.787+3924G>C) c.2351G>C (p.Arg784Thr) | |
| 8 | g.54626212G>T | CA370993435 | RP1 | c.2330G>T (p.Arg777Ile) c.787+3924G>T (n.787+3924G>T) c.2351G>T (p.Arg784Ile) | COSMIC |
| 8 | g.54626213A>C | CA370993436 | RP1 | c.2331A>C (p.Arg777Ser) c.787+3925A>C (n.787+3925A>C) c.2352A>C (p.Arg784Ser) | |
| 8 | g.54626213A>G | CA461098902 | RP1 | c.2331A>G (p.Arg777=) c.787+3925A>G (n.787+3925A>G) c.2352A>G (p.Arg784=) | gnomAD v4 |
| 8 | g.54626213A>T | CA370993437 | RP1 | c.2331A>T (p.Arg777Ser) c.787+3925A>T (n.787+3925A>T) c.2352A>T (p.Arg784Ser) | |
| 8 | g.54626216dup | CA2697549949 | RP1 | c.2334dup (p.Ser779IlefsTer2) c.787+3928dup (n.787+3928dup) c.2355dup (p.Ser786IlefsTer2) | ClinVar |
| 8 | g.54626215_54626216dup | CA2695209283 | RP1 | c.2333_2334dup (p.Ser779AsnfsTer5) c.787+3927_787+3928dup (n.787+3927_787+3928dup) c.2354_2355dup (p.Ser786AsnfsTer5) | |
| 8 | g.54626216del | CA2499219350 | RP1 | c.2334del (p.Lys778AsnfsTer5) c.787+3928del (n.787+3928del) c.2355del (p.Lys785AsnfsTer5) | ClinVar dbSNP |
| 8 | g.54626214A= | CA1785188208 | RP1 | c.2332A= (p.Lys778=) c.787+3926A= (n.787+3926A=) c.2353A= (p.Lys785=) | |
| 8 | g.54626214A>C | CA370993438 | RP1 | c.2332A>C (p.Lys778Gln) c.787+3926A>C (n.787+3926A>C) c.2353A>C (p.Lys785Gln) | |
| 8 | g.54626214A>G | CA370993439 | RP1 | c.2332A>G (p.Lys778Glu) c.787+3926A>G (n.787+3926A>G) c.2353A>G (p.Lys785Glu) | |
| 8 | g.54626214A>T | CA370993440 | RP1 | c.2332A>T (p.Lys778Ter) c.787+3926A>T (n.787+3926A>T) c.2353A>T (p.Lys785Ter) | ClinVar dbSNP |
| 8 | g.54626215A= | CA1785188209 | RP1 | c.2333A= (p.Lys778=) c.787+3927A= (n.787+3927A=) c.2354A= (p.Lys785=) | |
| 8 | g.54626215A>C | CA370993443 | RP1 | c.2333A>C (p.Lys778Thr) c.787+3927A>C (n.787+3927A>C) c.2354A>C (p.Lys785Thr) | |
| 8 | g.54626215A>G | CA370993442 | RP1 | c.2333A>G (p.Lys778Arg) c.787+3927A>G (n.787+3927A>G) c.2354A>G (p.Lys785Arg) | dbSNP |
| 8 | g.54626215A>T | CA370993441 | RP1 | c.2333A>T (p.Lys778Ile) c.787+3927A>T (n.787+3927A>T) c.2354A>T (p.Lys785Ile) | |
| 8 | g.54626216A>C | CA370993444 | RP1 | c.2334A>C (p.Lys778Asn) c.787+3928A>C (n.787+3928A>C) c.2355A>C (p.Lys785Asn) | |
| 8 | g.54626216A>G | CA461098903 | RP1 | c.2334A>G (p.Lys778=) c.787+3928A>G (n.787+3928A>G) c.2355A>G (p.Lys785=) | |
| 8 | g.54626216A>T | CA370993445 | RP1 | c.2334A>T (p.Lys778Asn) c.787+3928A>T (n.787+3928A>T) c.2355A>T (p.Lys785Asn) | |
| 8 | g.54626216_54626217insACCAAACACACCCAACACA | CA2780387015 | RP1 | c.2334_2335insACCAAACACACCCAACACA (p.Ser779ThrfsTer8) c.787+3928_787+3929insACCAAACACACCCAACACA (n.787+3928_787+3929insACCAAACACACCCAACACA) c.2355_2356insACCAAACACACCCAACACA (p.Ser786ThrfsTer8) | |
| 8 | g.54626216_54626217delinsAT | CA1785188210 | RP1 | c.2334_2335delinsAT (p.Lys778=) c.787+3928_787+3929delinsAT (n.787+3928_787+3929delinsAT) c.2355_2356delinsAT (p.Lys785=) | |
| 8 | g.54626217del | CA658821502 | RP1 | c.2335del (p.Ser779LeufsTer4) c.787+3929del (n.787+3929del) c.2356del (p.Ser786LeufsTer4) | ClinVar dbSNP |
| 8 | g.54626217T>A | CA370993446 | RP1 | c.2335T>A (p.Ser779Thr) c.787+3929T>A (n.787+3929T>A) c.2356T>A (p.Ser786Thr) | |
| 8 | g.54626217T>C | CA370993447 | RP1 | c.2335T>C (p.Ser779Pro) c.787+3929T>C (n.787+3929T>C) c.2356T>C (p.Ser786Pro) | gnomAD v4 |
| 8 | g.54626217T>G | CA370993448 | RP1 | c.2335T>G (p.Ser779Ala) c.787+3929T>G (n.787+3929T>G) c.2356T>G (p.Ser786Ala) | |
| 8 | g.54626218_54626219del | CA2695209284 | RP1 | c.2336_2337del (p.Ser779Ter) c.787+3930_787+3931del (n.787+3930_787+3931del) c.2357_2358del (p.Ser786Ter) | ClinVar |
| 8 | g.54626218C>A | CA4751507 | RP1 | c.2336C>A (p.Ser779Tyr) c.787+3930C>A (n.787+3930C>A) c.2357C>A (p.Ser786Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626218C= | CA1785188211 | RP1 | c.2336C= (p.Ser779=) c.787+3930C= (n.787+3930C=) c.2357C= (p.Ser786=) | |
| 8 | g.54626218C>G | CA370993450 | RP1 | c.2336C>G (p.Ser779Cys) c.787+3930C>G (n.787+3930C>G) c.2357C>G (p.Ser786Cys) | |
| 8 | g.54626218C>T | CA370993452 | RP1 | c.2336C>T (p.Ser779Phe) c.787+3930C>T (n.787+3930C>T) c.2357C>T (p.Ser786Phe) | |
| 8 | g.54626219T>A | CA461098904 | RP1 | c.2337T>A (p.Ser779=) c.787+3931T>A (n.787+3931T>A) c.2358T>A (p.Ser786=) | |
| 8 | g.54626219T>C | CA461098905 | RP1 | c.2337T>C (p.Ser779=) c.787+3931T>C (n.787+3931T>C) c.2358T>C (p.Ser786=) | |
| 8 | g.54626219T>G | CA461098906 | RP1 | c.2337T>G (p.Ser779=) c.787+3931T>G (n.787+3931T>G) c.2358T>G (p.Ser786=) | |
| 8 | g.54626220A= | CA1785188212 | RP1 | c.2338A= (p.Arg780=) c.787+3932A= (n.787+3932A=) c.2359A= (p.Arg787=) | |
| 8 | g.54626220A>C | CA461098907 | RP1 | c.2338A>C (p.Arg780=) c.787+3932A>C (n.787+3932A>C) c.2359A>C (p.Arg787=) | |
| 8 | g.54626220A>G | CA177237109 | RP1 | c.2338A>G (p.Arg780Gly) c.787+3932A>G (n.787+3932A>G) c.2359A>G (p.Arg787Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626220A>T | CA370993455 | RP1 | c.2338A>T (p.Arg780Ter) c.787+3932A>T (n.787+3932A>T) c.2359A>T (p.Arg787Ter) | |
| 8 | g.54626221G>A | CA370993458 | RP1 | c.2339G>A (p.Arg780Lys) c.787+3933G>A (n.787+3933G>A) c.2360G>A (p.Arg787Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626221G>C | CA370993460 | RP1 | c.2339G>C (p.Arg780Thr) c.787+3933G>C (n.787+3933G>C) c.2360G>C (p.Arg787Thr) | |
| 8 | g.54626221G= | CA1785188213 | RP1 | c.2339G= (p.Arg780=) c.787+3933G= (n.787+3933G=) c.2360G= (p.Arg787=) | |
| 8 | g.54626221G>T | CA4751508 | RP1 | c.2339G>T (p.Arg780Ile) c.787+3933G>T (n.787+3933G>T) c.2360G>T (p.Arg787Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626221_54626222insC | CA2567072315 | RP1 | c.2339_2340insC (p.Arg780SerfsTer5) c.787+3933_787+3934insC (n.787+3933_787+3934insC) c.2360_2361insC (p.Arg787SerfsTer5) | |
| 8 | g.54626222A= | CA1785188214 | RP1 | c.2340A= (p.Arg780=) c.787+3934A= (n.787+3934A=) c.2361A= (p.Arg787=) | |
| 8 | g.54626222A>C | CA370993464 | RP1 | c.2340A>C (p.Arg780Ser) c.787+3934A>C (n.787+3934A>C) c.2361A>C (p.Arg787Ser) | |
| 8 | g.54626222A>G | CA177237115 | RP1 | c.2340A>G (p.Arg780=) c.787+3934A>G (n.787+3934A>G) c.2361A>G (p.Arg787=) | dbSNP gnomAD v4 |
| 8 | g.54626222A>T | CA370993463 | RP1 | c.2340A>T (p.Arg780Ser) c.787+3934A>T (n.787+3934A>T) c.2361A>T (p.Arg787Ser) | |
| 8 | g.54626223T>A | CA370993466 | RP1 | c.2341T>A (p.Ser781Thr) c.787+3935T>A (n.787+3935T>A) c.2362T>A (p.Ser788Thr) | dbSNP |
| 8 | g.54626223T>C | CA370993469 | RP1 | c.2341T>C (p.Ser781Pro) c.787+3935T>C (n.787+3935T>C) c.2362T>C (p.Ser788Pro) | |
| 8 | g.54626223T>G | CA370993471 | RP1 | c.2341T>G (p.Ser781Ala) c.787+3935T>G (n.787+3935T>G) c.2362T>G (p.Ser788Ala) | |
| 8 | g.54626223T= | CA1785188215 | RP1 | c.2341T= (p.Ser781=) c.787+3935T= (n.787+3935T=) c.2362T= (p.Ser788=) | |
| 8 | g.54626224C>A | CA370993473 | RP1 | c.2342C>A (p.Ser781Ter) c.787+3936C>A (n.787+3936C>A) c.2363C>A (p.Ser788Ter) | ClinVar dbSNP |
| 8 | g.54626224C= | CA1785188216 | RP1 | c.2342C= (p.Ser781=) c.787+3936C= (n.787+3936C=) c.2363C= (p.Ser788=) | |
| 8 | g.54626224C>G | CA370993481 | RP1 | c.2342C>G (p.Ser781Ter) c.787+3936C>G (n.787+3936C>G) c.2363C>G (p.Ser788Ter) | |
| 8 | g.54626224C>T | CA370993483 | RP1 | c.2342C>T (p.Ser781Leu) c.787+3936C>T (n.787+3936C>T) c.2363C>T (p.Ser788Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626225A>C | CA461098908 | RP1 | c.2343A>C (p.Ser781=) c.787+3937A>C (n.787+3937A>C) c.2364A>C (p.Ser788=) | |
| 8 | g.54626225A>G | CA461098909 | RP1 | c.2343A>G (p.Ser781=) c.787+3937A>G (n.787+3937A>G) c.2364A>G (p.Ser788=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626225A>T | CA461098910 | RP1 | c.2343A>T (p.Ser781=) c.787+3937A>T (n.787+3937A>T) c.2364A>T (p.Ser788=) | |
| 8 | g.54626226C>A | CA370993485 | RP1 | c.2344C>A (p.Leu782Ile) c.787+3938C>A (n.787+3938C>A) c.2365C>A (p.Leu789Ile) | |
| 8 | g.54626226C= | CA1785188217 | RP1 | c.2344C= (p.Leu782=) c.787+3938C= (n.787+3938C=) c.2365C= (p.Leu789=) | |
| 8 | g.54626226C>G | CA4751509 | RP1 | c.2344C>G (p.Leu782Val) c.787+3938C>G (n.787+3938C>G) c.2365C>G (p.Leu789Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626226C>T | CA177237119 | RP1 | c.2344C>T (p.Leu782=) c.787+3938C>T (n.787+3938C>T) c.2365C>T (p.Leu789=) | dbSNP |
| 8 | g.54626227T>A | CA370993489 | RP1 | c.2345T>A (p.Leu782Gln) c.787+3939T>A (n.787+3939T>A) c.2366T>A (p.Leu789Gln) | |
| 8 | g.54626227T>C | CA370993490 | RP1 | c.2345T>C (p.Leu782Pro) c.787+3939T>C (n.787+3939T>C) c.2366T>C (p.Leu789Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626227T>G | CA370993492 | RP1 | c.2345T>G (p.Leu782Arg) c.787+3939T>G (n.787+3939T>G) c.2366T>G (p.Leu789Arg) | |
| 8 | g.54626227T= | CA1785188218 | RP1 | c.2345T= (p.Leu782=) c.787+3939T= (n.787+3939T=) c.2366T= (p.Leu789=) | |
| 8 | g.54626228A>C | CA461098913 | RP1 | c.2346A>C (p.Leu782=) c.787+3940A>C (n.787+3940A>C) c.2367A>C (p.Leu789=) | |
| 8 | g.54626228A>G | CA461098912 | RP1 | c.2346A>G (p.Leu782=) c.787+3940A>G (n.787+3940A>G) c.2367A>G (p.Leu789=) | |
| 8 | g.54626228A>T | CA461098911 | RP1 | c.2346A>T (p.Leu782=) c.787+3940A>T (n.787+3940A>T) c.2367A>T (p.Leu789=) | |
| 8 | g.54626230dup | CA1139660534 | RP1 | c.2348dup (p.Asn783LysfsTer2) c.787+3942dup (n.787+3942dup) c.2369dup (p.Asn790LysfsTer2) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626234_54626238del | CA2580617158 | RP1 | c.2352_2356del (p.Ile785LeufsTer5) c.787+3946_787+3950del (n.787+3946_787+3950del) c.2373_2377del (p.Ile792LeufsTer5) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626229A= | CA1785188219 | RP1 | c.2347A= (p.Asn783=) c.787+3941A= (n.787+3941A=) c.2368A= (p.Asn790=) | |
| 8 | g.54626229A>C | CA370993494 | RP1 | c.2347A>C (p.Asn783His) c.787+3941A>C (n.787+3941A>C) c.2368A>C (p.Asn790His) | |
| 8 | g.54626229A>G | CA370993496 | RP1 | c.2347A>G (p.Asn783Asp) c.787+3941A>G (n.787+3941A>G) c.2368A>G (p.Asn790Asp) | gnomAD v4 |
| 8 | g.54626229A>T | CA4751510 | RP1 | c.2347A>T (p.Asn783Tyr) c.787+3941A>T (n.787+3941A>T) c.2368A>T (p.Asn790Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626230A>C | CA370993500 | RP1 | c.2348A>C (p.Asn783Thr) c.787+3942A>C (n.787+3942A>C) c.2369A>C (p.Asn790Thr) | |
| 8 | g.54626230A>G | CA370993502 | RP1 | c.2348A>G (p.Asn783Ser) c.787+3942A>G (n.787+3942A>G) c.2369A>G (p.Asn790Ser) | |
| 8 | g.54626230A>T | CA370993499 | RP1 | c.2348A>T (p.Asn783Ile) c.787+3942A>T (n.787+3942A>T) c.2369A>T (p.Asn790Ile) | |
| 8 | g.54626231T>A | CA370993505 | RP1 | c.2349T>A (p.Asn783Lys) c.787+3943T>A (n.787+3943T>A) c.2370T>A (p.Asn790Lys) | |
| 8 | g.54626231T>C | CA461098914 | RP1 | c.2349T>C (p.Asn783=) c.787+3943T>C (n.787+3943T>C) c.2370T>C (p.Asn790=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626231T>G | CA370993503 | RP1 | c.2349T>G (p.Asn783Lys) c.787+3943T>G (n.787+3943T>G) c.2370T>G (p.Asn790Lys) | |
| 8 | g.54626231T= | CA1785188220 | RP1 | c.2349T= (p.Asn783=) c.787+3943T= (n.787+3943T=) c.2370T= (p.Asn790=) | |
| 8 | g.54626232A= | CA1785188221 | RP1 | c.2350A= (p.Lys784=) c.787+3944A= (n.787+3944A=) c.2371A= (p.Lys791=) | |
| 8 | g.54626232A>C | CA4751511 | RP1 | c.2350A>C (p.Lys784Gln) c.787+3944A>C (n.787+3944A>C) c.2371A>C (p.Lys791Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626232A>G | CA370993507 | RP1 | c.2350A>G (p.Lys784Glu) c.787+3944A>G (n.787+3944A>G) c.2371A>G (p.Lys791Glu) | |
| 8 | g.54626232A>T | CA370993510 | RP1 | c.2350A>T (p.Lys784Ter) c.787+3944A>T (n.787+3944A>T) c.2371A>T (p.Lys791Ter) | |
| 8 | g.54626233_54626238del | CA2573143223 | RP1 | c.2351_2356del (p.Lys784_Ile785del) c.787+3945_787+3950del (n.787+3945_787+3950del) c.2372_2377del (p.Lys791_Ile792del) | ClinVar dbSNP |
| 8 | g.54626233A>C | CA370993513 | RP1 | c.2351A>C (p.Lys784Thr) c.787+3945A>C (n.787+3945A>C) c.2372A>C (p.Lys791Thr) | |
| 8 | g.54626233A>G | CA370993514 | RP1 | c.2351A>G (p.Lys784Arg) c.787+3945A>G (n.787+3945A>G) c.2372A>G (p.Lys791Arg) | |
| 8 | g.54626233A>T | CA370993516 | RP1 | c.2351A>T (p.Lys784Ile) c.787+3945A>T (n.787+3945A>T) c.2372A>T (p.Lys791Ile) | |
| 8 | g.54626234A= | CA1785188222 | RP1 | c.2352A= (p.Lys784=) c.787+3946A= (n.787+3946A=) c.2373A= (p.Lys791=) | |
| 8 | g.54626234A>C | CA370993518 | RP1 | c.2352A>C (p.Lys784Asn) c.787+3946A>C (n.787+3946A>C) c.2373A>C (p.Lys791Asn) | |
| 8 | g.54626234A>G | CA461098915 | RP1 | c.2352A>G (p.Lys784=) c.787+3946A>G (n.787+3946A>G) c.2373A>G (p.Lys791=) | dbSNP gnomAD v4 |
| 8 | g.54626234A>T | CA370993520 | RP1 | c.2352A>T (p.Lys784Asn) c.787+3946A>T (n.787+3946A>T) c.2373A>T (p.Lys791Asn) | |
| 8 | g.54626235A= | CA1785188223 | RP1 | c.2353A= (p.Ile785=) c.787+3947A= (n.787+3947A=) c.2374A= (p.Ile792=) | |
| 8 | g.54626235A>C | CA370993522 | RP1 | c.2353A>C (p.Ile785Leu) c.787+3947A>C (n.787+3947A>C) c.2374A>C (p.Ile792Leu) | |
| 8 | g.54626235A>G | CA4751512 | RP1 | c.2353A>G (p.Ile785Val) c.787+3947A>G (n.787+3947A>G) c.2374A>G (p.Ile792Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626235A>T | CA370993524 | RP1 | c.2353A>T (p.Ile785Leu) c.787+3947A>T (n.787+3947A>T) c.2374A>T (p.Ile792Leu) | |
| 8 | g.54626236T>A | CA370993527 | RP1 | c.2354T>A (p.Ile785Lys) c.787+3948T>A (n.787+3948T>A) c.2375T>A (p.Ile792Lys) | |
| 8 | g.54626236T>C | CA370993528 | RP1 | c.2354T>C (p.Ile785Thr) c.787+3948T>C (n.787+3948T>C) c.2375T>C (p.Ile792Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626236T>G | CA370993529 | RP1 | c.2354T>G (p.Ile785Arg) c.787+3948T>G (n.787+3948T>G) c.2375T>G (p.Ile792Arg) | |
| 8 | g.54626236T= | CA1785188224 | RP1 | c.2354T= (p.Ile785=) c.787+3948T= (n.787+3948T=) c.2375T= (p.Ile792=) | |
| 8 | g.54626237A>C | CA461098656 | RP1 | c.2355A>C (p.Ile785=) c.787+3949A>C (n.787+3949A>C) c.2376A>C (p.Ile792=) | |
| 8 | g.54626237A>G | CA370993531 | RP1 | c.2355A>G (p.Ile785Met) c.787+3949A>G (n.787+3949A>G) c.2376A>G (p.Ile792Met) | |
| 8 | g.54626237A>T | CA461098659 | RP1 | c.2355A>T (p.Ile785=) c.787+3949A>T (n.787+3949A>T) c.2376A>T (p.Ile792=) | |
| 8 | g.54626238A>C | CA370993537 | RP1 | c.2356A>C (p.Ser786Arg) c.787+3950A>C (n.787+3950A>C) c.2377A>C (p.Ser793Arg) | |
| 8 | g.54626238A>G | CA370993535 | RP1 | c.2356A>G (p.Ser786Gly) c.787+3950A>G (n.787+3950A>G) c.2377A>G (p.Ser793Gly) | ClinVar dbSNP |
| 8 | g.54626238A>T | CA370993534 | RP1 | c.2356A>T (p.Ser786Cys) c.787+3950A>T (n.787+3950A>T) c.2377A>T (p.Ser793Cys) | |
| 8 | g.54626239G>A | CA370993539 | RP1 | c.2357G>A (p.Ser786Asn) c.787+3951G>A (n.787+3951G>A) c.2378G>A (p.Ser793Asn) | COSMIC |
| 8 | g.54626239G>C | CA370993541 | RP1 | c.2357G>C (p.Ser786Thr) c.787+3951G>C (n.787+3951G>C) c.2378G>C (p.Ser793Thr) | |
| 8 | g.54626239G>T | CA370993542 | RP1 | c.2357G>T (p.Ser786Ile) c.787+3951G>T (n.787+3951G>T) c.2378G>T (p.Ser793Ile) | |
| 8 | g.54626240C>A | CA370993545 | RP1 | c.2358C>A (p.Ser786Arg) c.787+3952C>A (n.787+3952C>A) c.2379C>A (p.Ser793Arg) | |
| 8 | g.54626240C= | CA1785188225 | RP1 | c.2358C= (p.Ser786=) c.787+3952C= (n.787+3952C=) c.2379C= (p.Ser793=) | |
| 8 | g.54626240C>G | CA370993546 | RP1 | c.2358C>G (p.Ser786Arg) c.787+3952C>G (n.787+3952C>G) c.2379C>G (p.Ser793Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626240C>T | CA461098666 | RP1 | c.2358C>T (p.Ser786=) c.787+3952C>T (n.787+3952C>T) c.2379C>T (p.Ser793=) | |
| 8 | g.54626241T>A | CA370993548 | RP1 | c.2359T>A (p.Leu787Ile) c.787+3953T>A (n.787+3953T>A) c.2380T>A (p.Leu794Ile) | |
| 8 | g.54626241T>C | CA461098668 | RP1 | c.2359T>C (p.Leu787=) c.787+3953T>C (n.787+3953T>C) c.2380T>C (p.Leu794=) | |
| 8 | g.54626241T>G | CA370993550 | RP1 | c.2359T>G (p.Leu787Val) c.787+3953T>G (n.787+3953T>G) c.2380T>G (p.Leu794Val) | |
| 8 | g.54626242T>A | CA370993552 | RP1 | c.2360T>A (p.Leu787Ter) c.787+3954T>A (n.787+3954T>A) c.2381T>A (p.Leu794Ter) | ClinVar dbSNP |
| 8 | g.54626242T>C | CA370993554 | RP1 | c.2360T>C (p.Leu787Ser) c.787+3954T>C (n.787+3954T>C) c.2381T>C (p.Leu794Ser) | |
| 8 | g.54626242T>G | CA370993556 | RP1 | c.2360T>G (p.Leu787Ter) c.787+3954T>G (n.787+3954T>G) c.2381T>G (p.Leu794Ter) | |
| 8 | g.54626242T= | CA1785188226 | RP1 | c.2360T= (p.Leu787=) c.787+3954T= (n.787+3954T=) c.2381T= (p.Leu794=) | |
| 8 | g.54626243A>C | CA370993559 | RP1 | c.2361A>C (p.Leu787Phe) c.787+3955A>C (n.787+3955A>C) c.2382A>C (p.Leu794Phe) | |
| 8 | g.54626243A>G | CA461098671 | RP1 | c.2361A>G (p.Leu787=) c.787+3955A>G (n.787+3955A>G) c.2382A>G (p.Leu794=) | gnomAD v4 |
| 8 | g.54626243A>T | CA370993561 | RP1 | c.2361A>T (p.Leu787Phe) c.787+3955A>T (n.787+3955A>T) c.2382A>T (p.Leu794Phe) | |
| 8 | g.54626244G>A | CA4751513 | RP1 | c.2362G>A (p.Gly788Arg) c.787+3956G>A (n.787+3956G>A) c.2383G>A (p.Gly795Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626244G>C | CA370993565 | RP1 | c.2362G>C (p.Gly788Arg) c.787+3956G>C (n.787+3956G>C) c.2383G>C (p.Gly795Arg) | |
| 8 | g.54626244G= | CA1785188227 | RP1 | c.2362G= (p.Gly788=) c.787+3956G= (n.787+3956G=) c.2383G= (p.Gly795=) | |
| 8 | g.54626244G>T | CA370993563 | RP1 | c.2362G>T (p.Gly788Ter) c.787+3956G>T (n.787+3956G>T) c.2383G>T (p.Gly795Ter) | |
| 8 | g.54626245G>A | CA4751515 | RP1 | c.2363G>A (p.Gly788Glu) c.787+3957G>A (n.787+3957G>A) c.2384G>A (p.Gly795Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626245G>C | CA370993568 | RP1 | c.2363G>C (p.Gly788Ala) c.787+3957G>C (n.787+3957G>C) c.2384G>C (p.Gly795Ala) | dbSNP |
| 8 | g.54626245G= | CA1785188228 | RP1 | c.2363G= (p.Gly788=) c.787+3957G= (n.787+3957G=) c.2384G= (p.Gly795=) | |
| 8 | g.54626245G>T | CA4751514 | RP1 | c.2363G>T (p.Gly788Val) c.787+3957G>T (n.787+3957G>T) c.2384G>T (p.Gly795Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626246A= | CA1785188229 | RP1 | c.2364A= (p.Gly788=) c.787+3958A= (n.787+3958A=) c.2385A= (p.Gly795=) | |
| 8 | g.54626246A>C | CA461098676 | RP1 | c.2364A>C (p.Gly788=) c.787+3958A>C (n.787+3958A>C) c.2385A>C (p.Gly795=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626246A>G | CA4751516 | RP1 | c.2364A>G (p.Gly788=) c.787+3958A>G (n.787+3958A>G) c.2385A>G (p.Gly795=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626246A>T | CA461098677 | RP1 | c.2364A>T (p.Gly788=) c.787+3958A>T (n.787+3958A>T) c.2385A>T (p.Gly795=) | |
| 8 | g.54626246_54626247insCTG | CA2780387016 | RP1 | c.2364_2365insCTG (p.Gly788_Ala789insLeu) c.787+3958_787+3959insCTG (n.787+3958_787+3959insCTG) c.2385_2386insCTG (p.Gly795_Ala796insLeu) | |
| 8 | g.54626247G>A | CA370993572 | RP1 | c.2365G>A (p.Ala789Thr) c.787+3959G>A (n.787+3959G>A) c.2386G>A (p.Ala796Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626247G>C | CA370993574 | RP1 | c.2365G>C (p.Ala789Pro) c.787+3959G>C (n.787+3959G>C) c.2386G>C (p.Ala796Pro) | |
| 8 | g.54626247G= | CA1785188230 | RP1 | c.2365G= (p.Ala789=) c.787+3959G= (n.787+3959G=) c.2386G= (p.Ala796=) | |
| 8 | g.54626247G>T | CA370993575 | RP1 | c.2365G>T (p.Ala789Ser) c.787+3959G>T (n.787+3959G>T) c.2386G>T (p.Ala796Ser) | |
| 8 | g.54626248C>A | CA370993578 | RP1 | c.2366C>A (p.Ala789Glu) c.787+3960C>A (n.787+3960C>A) c.2387C>A (p.Ala796Glu) | |
| 8 | g.54626248C= | CA1785188231 | RP1 | c.2366C= (p.Ala789=) c.787+3960C= (n.787+3960C=) c.2387C= (p.Ala796=) | |
| 8 | g.54626248C>G | CA370993580 | RP1 | c.2366C>G (p.Ala789Gly) c.787+3960C>G (n.787+3960C>G) c.2387C>G (p.Ala796Gly) | |
| 8 | g.54626248C>T | CA370993581 | RP1 | c.2366C>T (p.Ala789Val) c.787+3960C>T (n.787+3960C>T) c.2387C>T (p.Ala796Val) | dbSNP gnomAD v4 |
| 8 | g.54626249A= | CA1785188232 | RP1 | c.2367A= (p.Ala789=) c.787+3961A= (n.787+3961A=) c.2388A= (p.Ala796=) | |
| 8 | g.54626249A>C | CA461098681 | RP1 | c.2367A>C (p.Ala789=) c.787+3961A>C (n.787+3961A>C) c.2388A>C (p.Ala796=) | |
| 8 | g.54626249A>G | CA461098684 | RP1 | c.2367A>G (p.Ala789=) c.787+3961A>G (n.787+3961A>G) c.2388A>G (p.Ala796=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626249A>T | CA461098682 | RP1 | c.2367A>T (p.Ala789=) c.787+3961A>T (n.787+3961A>T) c.2388A>T (p.Ala796=) | |
| 8 | g.54626250C>A | CA370993584 | RP1 | c.2368C>A (p.Pro790Thr) c.787+3962C>A (n.787+3962C>A) c.2389C>A (p.Pro797Thr) | gnomAD v4 |
| 8 | g.54626250C>G | CA370993585 | RP1 | c.2368C>G (p.Pro790Ala) c.787+3962C>G (n.787+3962C>G) c.2389C>G (p.Pro797Ala) | |
| 8 | g.54626250C>T | CA370993587 | RP1 | c.2368C>T (p.Pro790Ser) c.787+3962C>T (n.787+3962C>T) c.2389C>T (p.Pro797Ser) | |
| 8 | g.54626251C>A | CA370993593 | RP1 | c.2369C>A (p.Pro790His) c.787+3963C>A (n.787+3963C>A) c.2390C>A (p.Pro797His) | |
| 8 | g.54626251C>G | CA370993590 | RP1 | c.2369C>G (p.Pro790Arg) c.787+3963C>G (n.787+3963C>G) c.2390C>G (p.Pro797Arg) | COSMIC |
| 8 | g.54626251C>T | CA370993591 | RP1 | c.2369C>T (p.Pro790Leu) c.787+3963C>T (n.787+3963C>T) c.2390C>T (p.Pro797Leu) | COSMIC |
| 8 | g.54626252T>A | CA461098688 | RP1 | c.2370T>A (p.Pro790=) c.787+3964T>A (n.787+3964T>A) c.2391T>A (p.Pro797=) | |
| 8 | g.54626252T>C | CA461098689 | RP1 | c.2370T>C (p.Pro790=) c.787+3964T>C (n.787+3964T>C) c.2391T>C (p.Pro797=) | |
| 8 | g.54626252T>G | CA461098690 | RP1 | c.2370T>G (p.Pro790=) c.787+3964T>G (n.787+3964T>G) c.2391T>G (p.Pro797=) | gnomAD v4 |
| 8 | g.54626252T= | CA1785188233 | RP1 | c.2370T= (p.Pro790=) c.787+3964T= (n.787+3964T=) c.2391T= (p.Pro797=) | |
| 8 | g.54626253A>C | CA370993594 | RP1 | c.2371A>C (p.Lys791Gln) c.787+3965A>C (n.787+3965A>C) c.2392A>C (p.Lys798Gln) | |
| 8 | g.54626253A>G | CA370993596 | RP1 | c.2371A>G (p.Lys791Glu) c.787+3965A>G (n.787+3965A>G) c.2392A>G (p.Lys798Glu) | gnomAD v4 |
| 8 | g.54626253A>T | CA370993598 | RP1 | c.2371A>T (p.Lys791Ter) c.787+3965A>T (n.787+3965A>T) c.2392A>T (p.Lys798Ter) | |
| 8 | g.54626259dup | CA853263226 | RP1 | c.2377dup (p.Arg793LysfsTer8) c.787+3971dup (n.787+3971dup) c.2398dup (p.Arg800LysfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626259del | CA461098695 | RP1 | c.2377del (p.Arg793GlufsTer?) c.787+3971del (n.787+3971del) c.2398del (p.Arg800GlufsTer?) | gnomAD v4 COSMIC |