| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54627709_54627719del | CA2740095046 | RP1 | c.3827_3837del (p.Pro1276LeufsTer4) c.787+5421_787+5431del (n.787+5421_787+5431del) c.3848_3858del (p.Pro1283LeufsTer4) | ClinVar |
| 8 | g.54627717A= | CA1785188861 | RP1 | c.3835A= (p.Thr1279=) c.787+5429A= (n.787+5429A=) c.3856A= (p.Thr1286=) | |
| 8 | g.54627717A>C | CA370997379 | RP1 | c.3835A>C (p.Thr1279Pro) c.787+5429A>C (n.787+5429A>C) c.3856A>C (p.Thr1286Pro) | |
| 8 | g.54627717A>G | CA370997380 | RP1 | c.3835A>G (p.Thr1279Ala) c.787+5429A>G (n.787+5429A>G) c.3856A>G (p.Thr1286Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627717A>T | CA370997381 | RP1 | c.3835A>T (p.Thr1279Ser) c.787+5429A>T (n.787+5429A>T) c.3856A>T (p.Thr1286Ser) | |
| 8 | g.54627718del | CA2687301874 | RP1 | c.3836del (p.Thr1279IlefsTer15) c.787+5430del (n.787+5430del) c.3857del (p.Thr1286IlefsTer15) | gnomAD v4 |
| 8 | g.54627718C>A | CA370997382 | RP1 | c.3836C>A (p.Thr1279Asn) c.787+5430C>A (n.787+5430C>A) c.3857C>A (p.Thr1286Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627718C= | CA1785188863 | RP1 | c.3836C= (p.Thr1279=) c.787+5430C= (n.787+5430C=) c.3857C= (p.Thr1286=) | |
| 8 | g.54627718C>G | CA370997383 | RP1 | c.3836C>G (p.Thr1279Ser) c.787+5430C>G (n.787+5430C>G) c.3857C>G (p.Thr1286Ser) | dbSNP |
| 8 | g.54627718C>T | CA370997384 | RP1 | c.3836C>T (p.Thr1279Ile) c.787+5430C>T (n.787+5430C>T) c.3857C>T (p.Thr1286Ile) | |
| 8 | g.54627718_54627719delinsCT | CA1785188862 | RP1 | c.3836_3837delinsCT (p.Thr1279=) c.787+5430_787+5431delinsCT (n.787+5430_787+5431delinsCT) c.3857_3858delinsCT (p.Thr1286=) | |
| 8 | g.54627719T>A | CA461099729 | RP1 | c.3837T>A (p.Thr1279=) c.787+5431T>A (n.787+5431T>A) c.3858T>A (p.Thr1286=) | |
| 8 | g.54627719T>C | CA461099730 | RP1 | c.3837T>C (p.Thr1279=) c.787+5431T>C (n.787+5431T>C) c.3858T>C (p.Thr1286=) | |
| 8 | g.54627719T>G | CA461099728 | RP1 | c.3837T>G (p.Thr1279=) c.787+5431T>G (n.787+5431T>G) c.3858T>G (p.Thr1286=) | |
| 8 | g.54627725dup | CA4751755 | RP1 | c.3843dup (p.Pro1282SerfsTer2) c.787+5437dup (n.787+5437dup) c.3864dup (p.Pro1289SerfsTer2) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54627725del | CA645509462 | RP1 | c.3843del (p.Pro1282LeufsTer12) c.787+5437del (n.787+5437del) c.3864del (p.Pro1289LeufsTer12) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54627720T>A | CA370997385 | RP1 | c.3838T>A (p.Phe1280Ile) c.787+5432T>A (n.787+5432T>A) c.3859T>A (p.Phe1287Ile) | gnomAD v4 |
| 8 | g.54627720T>C | CA370997386 | RP1 | c.3838T>C (p.Phe1280Leu) c.787+5432T>C (n.787+5432T>C) c.3859T>C (p.Phe1287Leu) | |
| 8 | g.54627720T>G | CA4751756 | RP1 | c.3838T>G (p.Phe1280Val) c.787+5432T>G (n.787+5432T>G) c.3859T>G (p.Phe1287Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627720T= | CA1785188864 | RP1 | c.3838T= (p.Phe1280=) c.787+5432T= (n.787+5432T=) c.3859T= (p.Phe1287=) | |
| 8 | g.54627721T>A | CA370997387 | RP1 | c.3839T>A (p.Phe1280Tyr) c.787+5433T>A (n.787+5433T>A) c.3860T>A (p.Phe1287Tyr) | |
| 8 | g.54627721T>C | CA370997388 | RP1 | c.3839T>C (p.Phe1280Ser) c.787+5433T>C (n.787+5433T>C) c.3860T>C (p.Phe1287Ser) | |
| 8 | g.54627721T>G | CA370997389 | RP1 | c.3839T>G (p.Phe1280Cys) c.787+5433T>G (n.787+5433T>G) c.3860T>G (p.Phe1287Cys) | |
| 8 | g.54627722T>A | CA370997390 | RP1 | c.3840T>A (p.Phe1280Leu) c.787+5434T>A (n.787+5434T>A) c.3861T>A (p.Phe1287Leu) | |
| 8 | g.54627722T>C | CA461099732 | RP1 | c.3840T>C (p.Phe1280=) c.787+5434T>C (n.787+5434T>C) c.3861T>C (p.Phe1287=) | |
| 8 | g.54627722T>G | CA370997391 | RP1 | c.3840T>G (p.Phe1280Leu) c.787+5434T>G (n.787+5434T>G) c.3861T>G (p.Phe1287Leu) | |
| 8 | g.54627723T>A | CA370997392 | RP1 | c.3841T>A (p.Phe1281Ile) c.787+5435T>A (n.787+5435T>A) c.3862T>A (p.Phe1288Ile) | |
| 8 | g.54627723T>C | CA370997393 | RP1 | c.3841T>C (p.Phe1281Leu) c.787+5435T>C (n.787+5435T>C) c.3862T>C (p.Phe1288Leu) | |
| 8 | g.54627723T>G | CA370997394 | RP1 | c.3841T>G (p.Phe1281Val) c.787+5435T>G (n.787+5435T>G) c.3862T>G (p.Phe1288Val) | |
| 8 | g.54627724T>A | CA370997395 | RP1 | c.3842T>A (p.Phe1281Tyr) c.787+5436T>A (n.787+5436T>A) c.3863T>A (p.Phe1288Tyr) | |
| 8 | g.54627724T>C | CA370997396 | RP1 | c.3842T>C (p.Phe1281Ser) c.787+5436T>C (n.787+5436T>C) c.3863T>C (p.Phe1288Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627724T>G | CA370997397 | RP1 | c.3842T>G (p.Phe1281Cys) c.787+5436T>G (n.787+5436T>G) c.3863T>G (p.Phe1288Cys) | |
| 8 | g.54627724T= | CA1785188865 | RP1 | c.3842T= (p.Phe1281=) c.787+5436T= (n.787+5436T=) c.3863T= (p.Phe1288=) | |
| 8 | g.54627725T>A | CA370997398 | RP1 | c.3843T>A (p.Phe1281Leu) c.787+5437T>A (n.787+5437T>A) c.3864T>A (p.Phe1288Leu) | |
| 8 | g.54627725T>C | CA461099733 | RP1 | c.3843T>C (p.Phe1281=) c.787+5437T>C (n.787+5437T>C) c.3864T>C (p.Phe1288=) | gnomAD v4 |
| 8 | g.54627725T>G | CA370997399 | RP1 | c.3843T>G (p.Phe1281Leu) c.787+5437T>G (n.787+5437T>G) c.3864T>G (p.Phe1288Leu) | |
| 8 | g.54627726C>A | CA370997400 | RP1 | c.3844C>A (p.Pro1282Thr) c.787+5438C>A (n.787+5438C>A) c.3865C>A (p.Pro1289Thr) | |
| 8 | g.54627726C= | CA1785188866 | RP1 | c.3844C= (p.Pro1282=) c.787+5438C= (n.787+5438C=) c.3865C= (p.Pro1289=) | |
| 8 | g.54627726C>G | CA370997401 | RP1 | c.3844C>G (p.Pro1282Ala) c.787+5438C>G (n.787+5438C>G) c.3865C>G (p.Pro1289Ala) | |
| 8 | g.54627726C>T | CA177237778 | RP1 | c.3844C>T (p.Pro1282Ser) c.787+5438C>T (n.787+5438C>T) c.3865C>T (p.Pro1289Ser) | dbSNP COSMIC |
| 8 | g.54627727C>A | CA370997403 | RP1 | c.3845C>A (p.Pro1282His) c.787+5439C>A (n.787+5439C>A) c.3866C>A (p.Pro1289His) | |
| 8 | g.54627727C= | CA1785188867 | RP1 | c.3845C= (p.Pro1282=) c.787+5439C= (n.787+5439C=) c.3866C= (p.Pro1289=) | |
| 8 | g.54627727C>G | CA370997402 | RP1 | c.3845C>G (p.Pro1282Arg) c.787+5439C>G (n.787+5439C>G) c.3866C>G (p.Pro1289Arg) | gnomAD v4 |
| 8 | g.54627727C>T | CA177237781 | RP1 | c.3845C>T (p.Pro1282Leu) c.787+5439C>T (n.787+5439C>T) c.3866C>T (p.Pro1289Leu) | dbSNP gnomAD v4 |
| 8 | g.54627728T>A | CA4751757 | RP1 | c.3846T>A (p.Pro1282=) c.787+5440T>A (n.787+5440T>A) c.3867T>A (p.Pro1289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627728T>C | CA461099736 | RP1 | c.3846T>C (p.Pro1282=) c.787+5440T>C (n.787+5440T>C) c.3867T>C (p.Pro1289=) | COSMIC |
| 8 | g.54627728T>G | CA461099737 | RP1 | c.3846T>G (p.Pro1282=) c.787+5440T>G (n.787+5440T>G) c.3867T>G (p.Pro1289=) | |
| 8 | g.54627728T= | CA1785188868 | RP1 | c.3846T= (p.Pro1282=) c.787+5440T= (n.787+5440T=) c.3867T= (p.Pro1289=) | |
| 8 | g.54627729A>C | CA370997404 | RP1 | c.3847A>C (p.Ser1283Arg) c.787+5441A>C (n.787+5441A>C) c.3868A>C (p.Ser1290Arg) | gnomAD v4 |
| 8 | g.54627729A>G | CA370997405 | RP1 | c.3847A>G (p.Ser1283Gly) c.787+5441A>G (n.787+5441A>G) c.3868A>G (p.Ser1290Gly) | gnomAD v4 |
| 8 | g.54627729A>T | CA370997406 | RP1 | c.3847A>T (p.Ser1283Cys) c.787+5441A>T (n.787+5441A>T) c.3868A>T (p.Ser1290Cys) | |
| 8 | g.54627730G>A | CA370997407 | RP1 | c.3848G>A (p.Ser1283Asn) c.787+5442G>A (n.787+5442G>A) c.3869G>A (p.Ser1290Asn) | |
| 8 | g.54627730G>C | CA370997408 | RP1 | c.3848G>C (p.Ser1283Thr) c.787+5442G>C (n.787+5442G>C) c.3869G>C (p.Ser1290Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627730G= | CA1785188869 | RP1 | c.3848G= (p.Ser1283=) c.787+5442G= (n.787+5442G=) c.3869G= (p.Ser1290=) | |
| 8 | g.54627730G>T | CA4751758 | RP1 | c.3848G>T (p.Ser1283Ile) c.787+5442G>T (n.787+5442G>T) c.3869G>T (p.Ser1290Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627731T>A | CA370997409 | RP1 | c.3849T>A (p.Ser1283Arg) c.787+5443T>A (n.787+5443T>A) c.3870T>A (p.Ser1290Arg) | |
| 8 | g.54627731T>C | CA461099740 | RP1 | c.3849T>C (p.Ser1283=) c.787+5443T>C (n.787+5443T>C) c.3870T>C (p.Ser1290=) | |
| 8 | g.54627731T>G | CA370997410 | RP1 | c.3849T>G (p.Ser1283Arg) c.787+5443T>G (n.787+5443T>G) c.3870T>G (p.Ser1290Arg) | |
| 8 | g.54627732G>A | CA370997411 | RP1 | c.3850G>A (p.Asp1284Asn) c.787+5444G>A (n.787+5444G>A) c.3871G>A (p.Asp1291Asn) | |
| 8 | g.54627732G>C | CA370997412 | RP1 | c.3850G>C (p.Asp1284His) c.787+5444G>C (n.787+5444G>C) c.3871G>C (p.Asp1291His) | |
| 8 | g.54627732G= | CA1785188870 | RP1 | c.3850G= (p.Asp1284=) c.787+5444G= (n.787+5444G=) c.3871G= (p.Asp1291=) | |
| 8 | g.54627732G>T | CA4751759 | RP1 | c.3850G>T (p.Asp1284Tyr) c.787+5444G>T (n.787+5444G>T) c.3871G>T (p.Asp1291Tyr) | dbSNP ExAC gnomAD v4 |
| 8 | g.54627733A>C | CA370997415 | RP1 | c.3851A>C (p.Asp1284Ala) c.787+5445A>C (n.787+5445A>C) c.3872A>C (p.Asp1291Ala) | |
| 8 | g.54627733A>G | CA370997413 | RP1 | c.3851A>G (p.Asp1284Gly) c.787+5445A>G (n.787+5445A>G) c.3872A>G (p.Asp1291Gly) | |
| 8 | g.54627733A>T | CA370997414 | RP1 | c.3851A>T (p.Asp1284Val) c.787+5445A>T (n.787+5445A>T) c.3872A>T (p.Asp1291Val) | |
| 8 | g.54627734T>A | CA370997416 | RP1 | c.3852T>A (p.Asp1284Glu) c.787+5446T>A (n.787+5446T>A) c.3873T>A (p.Asp1291Glu) | |
| 8 | g.54627734T>C | CA461099742 | RP1 | c.3852T>C (p.Asp1284=) c.787+5446T>C (n.787+5446T>C) c.3873T>C (p.Asp1291=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627734T>G | CA370997417 | RP1 | c.3852T>G (p.Asp1284Glu) c.787+5446T>G (n.787+5446T>G) c.3873T>G (p.Asp1291Glu) | |
| 8 | g.54627734T= | CA1785188871 | RP1 | c.3852T= (p.Asp1284=) c.787+5446T= (n.787+5446T=) c.3873T= (p.Asp1291=) | |
| 8 | g.54627735G>A | CA370997418 | RP1 | c.3853G>A (p.Gly1285Ser) c.787+5447G>A (n.787+5447G>A) c.3874G>A (p.Gly1292Ser) | |
| 8 | g.54627735G>C | CA370997419 | RP1 | c.3853G>C (p.Gly1285Arg) c.787+5447G>C (n.787+5447G>C) c.3874G>C (p.Gly1292Arg) | |
| 8 | g.54627735G>T | CA370997420 | RP1 | c.3853G>T (p.Gly1285Cys) c.787+5447G>T (n.787+5447G>T) c.3874G>T (p.Gly1292Cys) | |
| 8 | g.54627736G>A | CA370997421 | RP1 | c.3854G>A (p.Gly1285Asp) c.787+5448G>A (n.787+5448G>A) c.3875G>A (p.Gly1292Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627736G>C | CA370997422 | RP1 | c.3854G>C (p.Gly1285Ala) c.787+5448G>C (n.787+5448G>C) c.3875G>C (p.Gly1292Ala) | |
| 8 | g.54627736G= | CA1785188872 | RP1 | c.3854G= (p.Gly1285=) c.787+5448G= (n.787+5448G=) c.3875G= (p.Gly1292=) | |
| 8 | g.54627736G>T | CA370997423 | RP1 | c.3854G>T (p.Gly1285Val) c.787+5448G>T (n.787+5448G>T) c.3875G>T (p.Gly1292Val) | |
| 8 | g.54627737T>A | CA461099744 | RP1 | c.3855T>A (p.Gly1285=) c.787+5449T>A (n.787+5449T>A) c.3876T>A (p.Gly1292=) | |
| 8 | g.54627737T>C | CA461099745 | RP1 | c.3855T>C (p.Gly1285=) c.787+5449T>C (n.787+5449T>C) c.3876T>C (p.Gly1292=) | |
| 8 | g.54627737T>G | CA461099746 | RP1 | c.3855T>G (p.Gly1285=) c.787+5449T>G (n.787+5449T>G) c.3876T>G (p.Gly1292=) | |
| 8 | g.54627738T>A | CA370997424 | RP1 | c.3856T>A (p.Tyr1286Asn) c.787+5450T>A (n.787+5450T>A) c.3877T>A (p.Tyr1293Asn) | |
| 8 | g.54627738T>C | CA370997425 | RP1 | c.3856T>C (p.Tyr1286His) c.787+5450T>C (n.787+5450T>C) c.3877T>C (p.Tyr1293His) | |
| 8 | g.54627738T>G | CA370997426 | RP1 | c.3856T>G (p.Tyr1286Asp) c.787+5450T>G (n.787+5450T>G) c.3877T>G (p.Tyr1293Asp) | |
| 8 | g.54627739A= | CA1785188873 | RP1 | c.3857A= (p.Tyr1286=) c.787+5451A= (n.787+5451A=) c.3878A= (p.Tyr1293=) | |
| 8 | g.54627739A>C | CA370997428 | RP1 | c.3857A>C (p.Tyr1286Ser) c.787+5451A>C (n.787+5451A>C) c.3878A>C (p.Tyr1293Ser) | |
| 8 | g.54627739A>G | CA177237791 | RP1 | c.3857A>G (p.Tyr1286Cys) c.787+5451A>G (n.787+5451A>G) c.3878A>G (p.Tyr1293Cys) | dbSNP gnomAD v4 |
| 8 | g.54627739A>T | CA370997427 | RP1 | c.3857A>T (p.Tyr1286Phe) c.787+5451A>T (n.787+5451A>T) c.3878A>T (p.Tyr1293Phe) | |
| 8 | g.54627740T>A | CA370997429 | RP1 | c.3858T>A (p.Tyr1286Ter) c.787+5452T>A (n.787+5452T>A) c.3879T>A (p.Tyr1293Ter) | |
| 8 | g.54627740T>C | CA461099752 | RP1 | c.3858T>C (p.Tyr1286=) c.787+5452T>C (n.787+5452T>C) c.3879T>C (p.Tyr1293=) | |
| 8 | g.54627740T>G | CA370997430 | RP1 | c.3858T>G (p.Tyr1286Ter) c.787+5452T>G (n.787+5452T>G) c.3879T>G (p.Tyr1293Ter) | |
| 8 | g.54627741G>A | CA370997431 | RP1 | c.3859G>A (p.Gly1287Ser) c.787+5453G>A (n.787+5453G>A) c.3880G>A (p.Gly1294Ser) | |
| 8 | g.54627741G>C | CA370997432 | RP1 | c.3859G>C (p.Gly1287Arg) c.787+5453G>C (n.787+5453G>C) c.3880G>C (p.Gly1294Arg) | |
| 8 | g.54627741G>T | CA370997433 | RP1 | c.3859G>T (p.Gly1287Cys) c.787+5453G>T (n.787+5453G>T) c.3880G>T (p.Gly1294Cys) | COSMIC |
| 8 | g.54627742G>A | CA370997434 | RP1 | c.3860G>A (p.Gly1287Asp) c.787+5454G>A (n.787+5454G>A) c.3881G>A (p.Gly1294Asp) | dbSNP gnomAD v4 |
| 8 | g.54627742G>C | CA370997435 | RP1 | c.3860G>C (p.Gly1287Ala) c.787+5454G>C (n.787+5454G>C) c.3881G>C (p.Gly1294Ala) | |
| 8 | g.54627742G= | CA1785188874 | RP1 | c.3860G= (p.Gly1287=) c.787+5454G= (n.787+5454G=) c.3881G= (p.Gly1294=) | |
| 8 | g.54627742G>T | CA370997436 | RP1 | c.3860G>T (p.Gly1287Val) c.787+5454G>T (n.787+5454G>T) c.3881G>T (p.Gly1294Val) | |
| 8 | g.54627743T>A | CA461099754 | RP1 | c.3861T>A (p.Gly1287=) c.787+5455T>A (n.787+5455T>A) c.3882T>A (p.Gly1294=) | |
| 8 | g.54627743T>C | CA461099755 | RP1 | c.3861T>C (p.Gly1287=) c.787+5455T>C (n.787+5455T>C) c.3882T>C (p.Gly1294=) | |
| 8 | g.54627743T>G | CA461099756 | RP1 | c.3861T>G (p.Gly1287=) c.787+5455T>G (n.787+5455T>G) c.3882T>G (p.Gly1294=) | gnomAD v4 |
| 8 | g.54627744G>A | CA370997437 | RP1 | c.3862G>A (p.Val1288Met) c.787+5456G>A (n.787+5456G>A) c.3883G>A (p.Val1295Met) | |
| 8 | g.54627744G>C | CA370997438 | RP1 | c.3862G>C (p.Val1288Leu) c.787+5456G>C (n.787+5456G>C) c.3883G>C (p.Val1295Leu) | |
| 8 | g.54627744G= | CA1785188875 | RP1 | c.3862G= (p.Val1288=) c.787+5456G= (n.787+5456G=) c.3883G= (p.Val1295=) | |
| 8 | g.54627744G>T | CA370997439 | RP1 | c.3862G>T (p.Val1288Leu) c.787+5456G>T (n.787+5456G>T) c.3883G>T (p.Val1295Leu) | dbSNP |
| 8 | g.54627745T>A | CA370997440 | RP1 | c.3863T>A (p.Val1288Glu) c.787+5457T>A (n.787+5457T>A) c.3884T>A (p.Val1295Glu) | |
| 8 | g.54627745T>C | CA370997441 | RP1 | c.3863T>C (p.Val1288Ala) c.787+5457T>C (n.787+5457T>C) c.3884T>C (p.Val1295Ala) | |
| 8 | g.54627745T>G | CA370997442 | RP1 | c.3863T>G (p.Val1288Gly) c.787+5457T>G (n.787+5457T>G) c.3884T>G (p.Val1295Gly) | |
| 8 | g.54627746G>A | CA461099757 | RP1 | c.3864G>A (p.Val1288=) c.787+5458G>A (n.787+5458G>A) c.3885G>A (p.Val1295=) | |
| 8 | g.54627746G>C | CA461099760 | RP1 | c.3864G>C (p.Val1288=) c.787+5458G>C (n.787+5458G>C) c.3885G>C (p.Val1295=) | |
| 8 | g.54627746G>T | CA461099758 | RP1 | c.3864G>T (p.Val1288=) c.787+5458G>T (n.787+5458G>T) c.3885G>T (p.Val1295=) | |
| 8 | g.54627747G>A | CA370997444 | RP1 | c.3865G>A (p.Asp1289Asn) c.787+5459G>A (n.787+5459G>A) c.3886G>A (p.Asp1296Asn) | COSMIC |
| 8 | g.54627747G>C | CA177237795 | RP1 | c.3865G>C (p.Asp1289His) c.787+5459G>C (n.787+5459G>C) c.3886G>C (p.Asp1296His) | dbSNP |
| 8 | g.54627747G= | CA1785188876 | RP1 | c.3865G= (p.Asp1289=) c.787+5459G= (n.787+5459G=) c.3886G= (p.Asp1296=) | |
| 8 | g.54627747G>T | CA370997443 | RP1 | c.3865G>T (p.Asp1289Tyr) c.787+5459G>T (n.787+5459G>T) c.3886G>T (p.Asp1296Tyr) | gnomAD v4 |
| 8 | g.54627748A>C | CA370997445 | RP1 | c.3866A>C (p.Asp1289Ala) c.787+5460A>C (n.787+5460A>C) c.3887A>C (p.Asp1296Ala) | |
| 8 | g.54627748A>G | CA370997446 | RP1 | c.3866A>G (p.Asp1289Gly) c.787+5460A>G (n.787+5460A>G) c.3887A>G (p.Asp1296Gly) | |
| 8 | g.54627748A>T | CA370997447 | RP1 | c.3866A>T (p.Asp1289Val) c.787+5460A>T (n.787+5460A>T) c.3887A>T (p.Asp1296Val) | |
| 8 | g.54627749T>A | CA370997448 | RP1 | c.3867T>A (p.Asp1289Glu) c.787+5461T>A (n.787+5461T>A) c.3888T>A (p.Asp1296Glu) | |
| 8 | g.54627749T>C | CA461099762 | RP1 | c.3867T>C (p.Asp1289=) c.787+5461T>C (n.787+5461T>C) c.3888T>C (p.Asp1296=) | |
| 8 | g.54627749T>G | CA370997449 | RP1 | c.3867T>G (p.Asp1289Glu) c.787+5461T>G (n.787+5461T>G) c.3888T>G (p.Asp1296Glu) | |
| 8 | g.54627750C>A | CA370997450 | RP1 | c.3868C>A (p.Gln1290Lys) c.787+5462C>A (n.787+5462C>A) c.3889C>A (p.Gln1297Lys) | gnomAD v4 |
| 8 | g.54627750C>G | CA370997451 | RP1 | c.3868C>G (p.Gln1290Glu) c.787+5462C>G (n.787+5462C>G) c.3889C>G (p.Gln1297Glu) | |
| 8 | g.54627750C>T | CA370997452 | RP1 | c.3868C>T (p.Gln1290Ter) c.787+5462C>T (n.787+5462C>T) c.3889C>T (p.Gln1297Ter) | COSMIC |
| 8 | g.54627751A>C | CA370997453 | RP1 | c.3869A>C (p.Gln1290Pro) c.787+5463A>C (n.787+5463A>C) c.3890A>C (p.Gln1297Pro) | |
| 8 | g.54627751A>G | CA370997454 | RP1 | c.3869A>G (p.Gln1290Arg) c.787+5463A>G (n.787+5463A>G) c.3890A>G (p.Gln1297Arg) | gnomAD v4 |
| 8 | g.54627751A>T | CA370997455 | RP1 | c.3869A>T (p.Gln1290Leu) c.787+5463A>T (n.787+5463A>T) c.3890A>T (p.Gln1297Leu) | |
| 8 | g.54627752G>A | CA461099766 | RP1 | c.3870G>A (p.Gln1290=) c.787+5464G>A (n.787+5464G>A) c.3891G>A (p.Gln1297=) | COSMIC |
| 8 | g.54627752G>C | CA370997456 | RP1 | c.3870G>C (p.Gln1290His) c.787+5464G>C (n.787+5464G>C) c.3891G>C (p.Gln1297His) | |
| 8 | g.54627752G= | CA1785188877 | RP1 | c.3870G= (p.Gln1290=) c.787+5464G= (n.787+5464G=) c.3891G= (p.Gln1297=) | |
| 8 | g.54627752G>T | CA10627986 | RP1 | c.3870G>T (p.Gln1290His) c.787+5464G>T (n.787+5464G>T) c.3891G>T (p.Gln1297His) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54627753A>C | CA370997457 | RP1 | c.3871A>C (p.Thr1291Pro) c.787+5465A>C (n.787+5465A>C) c.3892A>C (p.Thr1298Pro) | |
| 8 | g.54627753A>G | CA370997458 | RP1 | c.3871A>G (p.Thr1291Ala) c.787+5465A>G (n.787+5465A>G) c.3892A>G (p.Thr1298Ala) | |
| 8 | g.54627753A>T | CA370997459 | RP1 | c.3871A>T (p.Thr1291Ser) c.787+5465A>T (n.787+5465A>T) c.3892A>T (p.Thr1298Ser) | |
| 8 | g.54627754C>A | CA370997460 | RP1 | c.3872C>A (p.Thr1291Asn) c.787+5466C>A (n.787+5466C>A) c.3893C>A (p.Thr1298Asn) | |
| 8 | g.54627754C>G | CA370997461 | RP1 | c.3872C>G (p.Thr1291Ser) c.787+5466C>G (n.787+5466C>G) c.3893C>G (p.Thr1298Ser) | |
| 8 | g.54627754C>T | CA370997462 | RP1 | c.3872C>T (p.Thr1291Ile) c.787+5466C>T (n.787+5466C>T) c.3893C>T (p.Thr1298Ile) | |
| 8 | g.54627755T>A | CA461099769 | RP1 | c.3873T>A (p.Thr1291=) c.787+5467T>A (n.787+5467T>A) c.3894T>A (p.Thr1298=) | gnomAD v4 |
| 8 | g.54627755T>C | CA461099771 | RP1 | c.3873T>C (p.Thr1291=) c.787+5467T>C (n.787+5467T>C) c.3894T>C (p.Thr1298=) | |
| 8 | g.54627755T>G | CA461099772 | RP1 | c.3873T>G (p.Thr1291=) c.787+5467T>G (n.787+5467T>G) c.3894T>G (p.Thr1298=) | |
| 8 | g.54627756T>A | CA370997463 | RP1 | c.3874T>A (p.Ser1292Thr) c.787+5468T>A (n.787+5468T>A) c.3895T>A (p.Ser1299Thr) | |
| 8 | g.54627756T>C | CA4751760 | RP1 | c.3874T>C (p.Ser1292Pro) c.787+5468T>C (n.787+5468T>C) c.3895T>C (p.Ser1299Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627756T>G | CA370997464 | RP1 | c.3874T>G (p.Ser1292Ala) c.787+5468T>G (n.787+5468T>G) c.3895T>G (p.Ser1299Ala) | |
| 8 | g.54627756T= | CA1785188878 | RP1 | c.3874T= (p.Ser1292=) c.787+5468T= (n.787+5468T=) c.3895T= (p.Ser1299=) | |
| 8 | g.54627757C>A | CA370997465 | RP1 | c.3875C>A (p.Ser1292Tyr) c.787+5469C>A (n.787+5469C>A) c.3896C>A (p.Ser1299Tyr) | gnomAD v4 |
| 8 | g.54627757C= | CA1785188879 | RP1 | c.3875C= (p.Ser1292=) c.787+5469C= (n.787+5469C=) c.3896C= (p.Ser1299=) | |
| 8 | g.54627757C>G | CA370997466 | RP1 | c.3875C>G (p.Ser1292Cys) c.787+5469C>G (n.787+5469C>G) c.3896C>G (p.Ser1299Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627757C>T | CA370997467 | RP1 | c.3875C>T (p.Ser1292Phe) c.787+5469C>T (n.787+5469C>T) c.3896C>T (p.Ser1299Phe) | |
| 8 | g.54627758T>A | CA461099774 | RP1 | c.3876T>A (p.Ser1292=) c.787+5470T>A (n.787+5470T>A) c.3897T>A (p.Ser1299=) | |
| 8 | g.54627758T>C | CA461099775 | RP1 | c.3876T>C (p.Ser1292=) c.787+5470T>C (n.787+5470T>C) c.3897T>C (p.Ser1299=) | |
| 8 | g.54627758T>G | CA461099776 | RP1 | c.3876T>G (p.Ser1292=) c.787+5470T>G (n.787+5470T>G) c.3897T>G (p.Ser1299=) | |
| 8 | g.54627759A= | CA1785188880 | RP1 | c.3877A= (p.Met1293=) c.787+5471A= (n.787+5471A=) c.3898A= (p.Met1300=) | |
| 8 | g.54627759A>C | CA370997469 | RP1 | c.3877A>C (p.Met1293Leu) c.787+5471A>C (n.787+5471A>C) c.3898A>C (p.Met1300Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54627759A>G | CA370997470 | RP1 | c.3877A>G (p.Met1293Val) c.787+5471A>G (n.787+5471A>G) c.3898A>G (p.Met1300Val) | gnomAD v4 |
| 8 | g.54627759A>T | CA370997468 | RP1 | c.3877A>T (p.Met1293Leu) c.787+5471A>T (n.787+5471A>T) c.3898A>T (p.Met1300Leu) | |
| 8 | g.54627760T>A | CA370997471 | RP1 | c.3878T>A (p.Met1293Lys) c.787+5472T>A (n.787+5472T>A) c.3899T>A (p.Met1300Lys) | |
| 8 | g.54627760T>C | CA370997472 | RP1 | c.3878T>C (p.Met1293Thr) c.787+5472T>C (n.787+5472T>C) c.3899T>C (p.Met1300Thr) | gnomAD v4 |
| 8 | g.54627760T>G | CA370997473 | RP1 | c.3878T>G (p.Met1293Arg) c.787+5472T>G (n.787+5472T>G) c.3899T>G (p.Met1300Arg) | |
| 8 | g.54627761G>A | CA370997474 | RP1 | c.3879G>A (p.Met1293Ile) c.787+5473G>A (n.787+5473G>A) c.3900G>A (p.Met1300Ile) | COSMIC |
| 8 | g.54627761G>C | CA370997475 | RP1 | c.3879G>C (p.Met1293Ile) c.787+5473G>C (n.787+5473G>C) c.3900G>C (p.Met1300Ile) | |
| 8 | g.54627761G>T | CA370997476 | RP1 | c.3879G>T (p.Met1293Ile) c.787+5473G>T (n.787+5473G>T) c.3900G>T (p.Met1300Ile) | |
| 8 | g.54627762A>C | CA370997477 | RP1 | c.3880A>C (p.Asn1294His) c.787+5474A>C (n.787+5474A>C) c.3901A>C (p.Asn1301His) | |
| 8 | g.54627762A>G | CA370997479 | RP1 | c.3880A>G (p.Asn1294Asp) c.787+5474A>G (n.787+5474A>G) c.3901A>G (p.Asn1301Asp) | |
| 8 | g.54627762A>T | CA370997478 | RP1 | c.3880A>T (p.Asn1294Tyr) c.787+5474A>T (n.787+5474A>T) c.3901A>T (p.Asn1301Tyr) | gnomAD v4 |
| 8 | g.54627763A= | CA1785188881 | RP1 | c.3881A= (p.Asn1294=) c.787+5475A= (n.787+5475A=) c.3902A= (p.Asn1301=) | |
| 8 | g.54627763A>C | CA4751761 | RP1 | c.3881A>C (p.Asn1294Thr) c.787+5475A>C (n.787+5475A>C) c.3902A>C (p.Asn1301Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627763A>G | CA4751762 | RP1 | c.3881A>G (p.Asn1294Ser) c.787+5475A>G (n.787+5475A>G) c.3902A>G (p.Asn1301Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627763A>T | CA370997480 | RP1 | c.3881A>T (p.Asn1294Ile) c.787+5475A>T (n.787+5475A>T) c.3902A>T (p.Asn1301Ile) | |
| 8 | g.54627764T>A | CA370997481 | RP1 | c.3882T>A (p.Asn1294Lys) c.787+5476T>A (n.787+5476T>A) c.3903T>A (p.Asn1301Lys) | |
| 8 | g.54627764T>C | CA461099786 | RP1 | c.3882T>C (p.Asn1294=) c.787+5476T>C (n.787+5476T>C) c.3903T>C (p.Asn1301=) | |
| 8 | g.54627764T>G | CA370997482 | RP1 | c.3882T>G (p.Asn1294Lys) c.787+5476T>G (n.787+5476T>G) c.3903T>G (p.Asn1301Lys) | dbSNP |
| 8 | g.54627765_54627775del | CA645560580 | RP1 | c.3883_3893del (p.Lys1295ProfsTer9) c.787+5477_787+5487del (n.787+5477_787+5487del) c.3904_3914del (p.Lys1302ProfsTer9) | COSMIC |
| 8 | g.54627765A>C | CA370997484 | RP1 | c.3883A>C (p.Lys1295Gln) c.787+5477A>C (n.787+5477A>C) c.3904A>C (p.Lys1302Gln) | |
| 8 | g.54627765A>G | CA370997485 | RP1 | c.3883A>G (p.Lys1295Glu) c.787+5477A>G (n.787+5477A>G) c.3904A>G (p.Lys1302Glu) | |
| 8 | g.54627765A>T | CA370997483 | RP1 | c.3883A>T (p.Lys1295Ter) c.787+5477A>T (n.787+5477A>T) c.3904A>T (p.Lys1302Ter) | |
| 8 | g.54627766A>C | CA370997487 | RP1 | c.3884A>C (p.Lys1295Thr) c.787+5478A>C (n.787+5478A>C) c.3905A>C (p.Lys1302Thr) | |
| 8 | g.54627766A>G | CA370997486 | RP1 | c.3884A>G (p.Lys1295Arg) c.787+5478A>G (n.787+5478A>G) c.3905A>G (p.Lys1302Arg) | |
| 8 | g.54627766A>T | CA370997488 | RP1 | c.3884A>T (p.Lys1295Met) c.787+5478A>T (n.787+5478A>T) c.3905A>T (p.Lys1302Met) | ClinVar |
| 8 | g.54627767G>A | CA461099790 | RP1 | c.3885G>A (p.Lys1295=) c.787+5479G>A (n.787+5479G>A) c.3906G>A (p.Lys1302=) | |
| 8 | g.54627767G>C | CA370997489 | RP1 | c.3885G>C (p.Lys1295Asn) c.787+5479G>C (n.787+5479G>C) c.3906G>C (p.Lys1302Asn) | |
| 8 | g.54627767G>T | CA370997490 | RP1 | c.3885G>T (p.Lys1295Asn) c.787+5479G>T (n.787+5479G>T) c.3906G>T (p.Lys1302Asn) | |
| 8 | g.54627768G>A | CA370997491 | RP1 | c.3886G>A (p.Ala1296Thr) c.787+5480G>A (n.787+5480G>A) c.3907G>A (p.Ala1303Thr) | |
| 8 | g.54627768G>C | CA370997492 | RP1 | c.3886G>C (p.Ala1296Pro) c.787+5480G>C (n.787+5480G>C) c.3907G>C (p.Ala1303Pro) | |
| 8 | g.54627768G>T | CA370997493 | RP1 | c.3886G>T (p.Ala1296Ser) c.787+5480G>T (n.787+5480G>T) c.3907G>T (p.Ala1303Ser) | |
| 8 | g.54627769C>A | CA370997494 | RP1 | c.3887C>A (p.Ala1296Asp) c.787+5481C>A (n.787+5481C>A) c.3908C>A (p.Ala1303Asp) | |
| 8 | g.54627769C= | CA1785188882 | RP1 | c.3887C= (p.Ala1296=) c.787+5481C= (n.787+5481C=) c.3908C= (p.Ala1303=) | |
| 8 | g.54627769C>G | CA370997495 | RP1 | c.3887C>G (p.Ala1296Gly) c.787+5481C>G (n.787+5481C>G) c.3908C>G (p.Ala1303Gly) | dbSNP |
| 8 | g.54627769C>T | CA370997496 | RP1 | c.3887C>T (p.Ala1296Val) c.787+5481C>T (n.787+5481C>T) c.3908C>T (p.Ala1303Val) | |
| 8 | g.54627770T>A | CA461099796 | RP1 | c.3888T>A (p.Ala1296=) c.787+5482T>A (n.787+5482T>A) c.3909T>A (p.Ala1303=) | |
| 8 | g.54627770T>C | CA461099797 | RP1 | c.3888T>C (p.Ala1296=) c.787+5482T>C (n.787+5482T>C) c.3909T>C (p.Ala1303=) | gnomAD v4 |
| 8 | g.54627770T>G | CA461099798 | RP1 | c.3888T>G (p.Ala1296=) c.787+5482T>G (n.787+5482T>G) c.3909T>G (p.Ala1303=) | |
| 8 | g.54627771T>A | CA370997497 | RP1 | c.3889T>A (p.Cys1297Ser) c.787+5483T>A (n.787+5483T>A) c.3910T>A (p.Cys1304Ser) | |
| 8 | g.54627771T>C | CA370997498 | RP1 | c.3889T>C (p.Cys1297Arg) c.787+5483T>C (n.787+5483T>C) c.3910T>C (p.Cys1304Arg) | |
| 8 | g.54627771T>G | CA370997499 | RP1 | c.3889T>G (p.Cys1297Gly) c.787+5483T>G (n.787+5483T>G) c.3910T>G (p.Cys1304Gly) | |
| 8 | g.54627772G>A | CA4751763 | RP1 | c.3890G>A (p.Cys1297Tyr) c.787+5484G>A (n.787+5484G>A) c.3911G>A (p.Cys1304Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627772G>C | CA370980655 | RP1 | c.3890G>C (p.Cys1297Ser) c.787+5484G>C (n.787+5484G>C) c.3911G>C (p.Cys1304Ser) | gnomAD v4 |
| 8 | g.54627772G= | CA1785188883 | RP1 | c.3890G= (p.Cys1297=) c.787+5484G= (n.787+5484G=) c.3911G= (p.Cys1304=) | |
| 8 | g.54627772G>T | CA370980654 | RP1 | c.3890G>T (p.Cys1297Phe) c.787+5484G>T (n.787+5484G>T) c.3911G>T (p.Cys1304Phe) | |
| 8 | g.54627772_54627773delinsGT | CA1785188884 | RP1 | c.3890_3891delinsGT (p.Cys1297=) c.787+5484_787+5485delinsGT (n.787+5484_787+5485delinsGT) c.3911_3912delinsGT (p.Cys1304=) | |
| 8 | g.54627773T>A | CA370980656 | RP1 | c.3891T>A (p.Cys1297Ter) c.787+5485T>A (n.787+5485T>A) c.3912T>A (p.Cys1304Ter) | |
| 8 | g.54627773T>C | CA461099344 | RP1 | c.3891T>C (p.Cys1297=) c.787+5485T>C (n.787+5485T>C) c.3912T>C (p.Cys1304=) | dbSNP |
| 8 | g.54627773T>G | CA370980657 | RP1 | c.3891T>G (p.Cys1297Trp) c.787+5485T>G (n.787+5485T>G) c.3912T>G (p.Cys1304Trp) | |
| 8 | g.54627775del | CA582096941 | RP1 | c.3893del (p.Phe1298SerfsTer2) c.787+5487del (n.787+5487del) c.3914del (p.Phe1305SerfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627774T>A | CA370980658 | RP1 | c.3892T>A (p.Phe1298Ile) c.787+5486T>A (n.787+5486T>A) c.3913T>A (p.Phe1305Ile) | |
| 8 | g.54627774T>C | CA370980659 | RP1 | c.3892T>C (p.Phe1298Leu) c.787+5486T>C (n.787+5486T>C) c.3913T>C (p.Phe1305Leu) | |
| 8 | g.54627774T>G | CA370980660 | RP1 | c.3892T>G (p.Phe1298Val) c.787+5486T>G (n.787+5486T>G) c.3913T>G (p.Phe1305Val) | |
| 8 | g.54627775T>A | CA370980661 | RP1 | c.3893T>A (p.Phe1298Tyr) c.787+5487T>A (n.787+5487T>A) c.3914T>A (p.Phe1305Tyr) | |
| 8 | g.54627775T>C | CA370980662 | RP1 | c.3893T>C (p.Phe1298Ser) c.787+5487T>C (n.787+5487T>C) c.3914T>C (p.Phe1305Ser) | |
| 8 | g.54627775T>G | CA370980663 | RP1 | c.3893T>G (p.Phe1298Cys) c.787+5487T>G (n.787+5487T>G) c.3914T>G (p.Phe1305Cys) | |
| 8 | g.54627776C>A | CA370980664 | RP1 | c.3894C>A (p.Phe1298Leu) c.787+5488C>A (n.787+5488C>A) c.3915C>A (p.Phe1305Leu) | |
| 8 | g.54627776C>G | CA370980665 | RP1 | c.3894C>G (p.Phe1298Leu) c.787+5488C>G (n.787+5488C>G) c.3915C>G (p.Phe1305Leu) | |
| 8 | g.54627776C>T | CA461099363 | RP1 | c.3894C>T (p.Phe1298=) c.787+5488C>T (n.787+5488C>T) c.3915C>T (p.Phe1305=) | COSMIC |
| 8 | g.54627777C>A | CA370980666 | RP1 | c.3895C>A (p.Leu1299Ile) c.787+5489C>A (n.787+5489C>A) c.3916C>A (p.Leu1306Ile) | |
| 8 | g.54627777C>G | CA370980667 | RP1 | c.3895C>G (p.Leu1299Val) c.787+5489C>G (n.787+5489C>G) c.3916C>G (p.Leu1306Val) | |
| 8 | g.54627777C>T | CA461099365 | RP1 | c.3895C>T (p.Leu1299=) c.787+5489C>T (n.787+5489C>T) c.3916C>T (p.Leu1306=) | |
| 8 | g.54627778T>A | CA370980669 | RP1 | c.3896T>A (p.Leu1299Gln) c.787+5490T>A (n.787+5490T>A) c.3917T>A (p.Leu1306Gln) | |
| 8 | g.54627778T>C | CA370980670 | RP1 | c.3896T>C (p.Leu1299Pro) c.787+5490T>C (n.787+5490T>C) c.3917T>C (p.Leu1306Pro) | gnomAD v4 |
| 8 | g.54627778T>G | CA370980668 | RP1 | c.3896T>G (p.Leu1299Arg) c.787+5490T>G (n.787+5490T>G) c.3917T>G (p.Leu1306Arg) | |
| 8 | g.54627779A= | CA1785188885 | RP1 | c.3897A= (p.Leu1299=) c.787+5491A= (n.787+5491A=) c.3918A= (p.Leu1306=) | |
| 8 | g.54627779A>C | CA461099366 | RP1 | c.3897A>C (p.Leu1299=) c.787+5491A>C (n.787+5491A>C) c.3918A>C (p.Leu1306=) | |
| 8 | g.54627779A>G | CA4751764 | RP1 | c.3897A>G (p.Leu1299=) c.787+5491A>G (n.787+5491A>G) c.3918A>G (p.Leu1306=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627779A>T | CA461099368 | RP1 | c.3897A>T (p.Leu1299=) c.787+5491A>T (n.787+5491A>T) c.3918A>T (p.Leu1306=) | |
| 8 | g.54627780G>A | CA370980671 | RP1 | c.3898G>A (p.Gly1300Arg) c.787+5492G>A (n.787+5492G>A) c.3919G>A (p.Gly1307Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54627780G>C | CA370980672 | RP1 | c.3898G>C (p.Gly1300Arg) c.787+5492G>C (n.787+5492G>C) c.3919G>C (p.Gly1307Arg) | |
| 8 | g.54627780G= | CA1785188886 | RP1 | c.3898G= (p.Gly1300=) c.787+5492G= (n.787+5492G=) c.3919G= (p.Gly1307=) | |
| 8 | g.54627780G>T | CA370980673 | RP1 | c.3898G>T (p.Gly1300Ter) c.787+5492G>T (n.787+5492G>T) c.3919G>T (p.Gly1307Ter) | |
| 8 | g.54627781G>A | CA370980674 | RP1 | c.3899G>A (p.Gly1300Glu) c.787+5493G>A (n.787+5493G>A) c.3920G>A (p.Gly1307Glu) | gnomAD v4 |
| 8 | g.54627781G>C | CA370980675 | RP1 | c.3899G>C (p.Gly1300Ala) c.787+5493G>C (n.787+5493G>C) c.3920G>C (p.Gly1307Ala) | |
| 8 | g.54627781G>T | CA370980676 | RP1 | c.3899G>T (p.Gly1300Val) c.787+5493G>T (n.787+5493G>T) c.3920G>T (p.Gly1307Val) | |
| 8 | g.54627782A>C | CA461099380 | RP1 | c.3900A>C (p.Gly1300=) c.787+5494A>C (n.787+5494A>C) c.3921A>C (p.Gly1307=) | |
| 8 | g.54627782A>G | CA461099379 | RP1 | c.3900A>G (p.Gly1300=) c.787+5494A>G (n.787+5494A>G) c.3921A>G (p.Gly1307=) | |
| 8 | g.54627782A>T | CA461099378 | RP1 | c.3900A>T (p.Gly1300=) c.787+5494A>T (n.787+5494A>T) c.3921A>T (p.Gly1307=) | |
| 8 | g.54627783G>A | CA370980677 | RP1 | c.3901G>A (p.Glu1301Lys) c.787+5495G>A (n.787+5495G>A) c.3922G>A (p.Glu1308Lys) | |
| 8 | g.54627783G>C | CA370980678 | RP1 | c.3901G>C (p.Glu1301Gln) c.787+5495G>C (n.787+5495G>C) c.3922G>C (p.Glu1308Gln) | |
| 8 | g.54627783G>T | CA370980679 | RP1 | c.3901G>T (p.Glu1301Ter) c.787+5495G>T (n.787+5495G>T) c.3922G>T (p.Glu1308Ter) | |
| 8 | g.54627784A= | CA1785188887 | RP1 | c.3902A= (p.Glu1301=) c.787+5496A= (n.787+5496A=) c.3923A= (p.Glu1308=) | |
| 8 | g.54627784A>C | CA370980680 | RP1 | c.3902A>C (p.Glu1301Ala) c.787+5496A>C (n.787+5496A>C) c.3923A>C (p.Glu1308Ala) | |
| 8 | g.54627784A>G | CA4751765 | RP1 | c.3902A>G (p.Glu1301Gly) c.787+5496A>G (n.787+5496A>G) c.3923A>G (p.Glu1308Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627784A>T | CA370980681 | RP1 | c.3902A>T (p.Glu1301Val) c.787+5496A>T (n.787+5496A>T) c.3923A>T (p.Glu1308Val) | |
| 8 | g.54627785G>A | CA461099390 | RP1 | c.3903G>A (p.Glu1301=) c.787+5497G>A (n.787+5497G>A) c.3924G>A (p.Glu1308=) | COSMIC |
| 8 | g.54627785G>C | CA370980683 | RP1 | c.3903G>C (p.Glu1301Asp) c.787+5497G>C (n.787+5497G>C) c.3924G>C (p.Glu1308Asp) | |
| 8 | g.54627785G>T | CA370980682 | RP1 | c.3903G>T (p.Glu1301Asp) c.787+5497G>T (n.787+5497G>T) c.3924G>T (p.Glu1308Asp) | |
| 8 | g.54627786G>A | CA370980684 | RP1 | c.3904G>A (p.Val1302Ile) c.787+5498G>A (n.787+5498G>A) c.3925G>A (p.Val1309Ile) | dbSNP |
| 8 | g.54627786G>C | CA370980685 | RP1 | c.3904G>C (p.Val1302Leu) c.787+5498G>C (n.787+5498G>C) c.3925G>C (p.Val1309Leu) | |
| 8 | g.54627786G>T | CA370980686 | RP1 | c.3904G>T (p.Val1302Phe) c.787+5498G>T (n.787+5498G>T) c.3925G>T (p.Val1309Phe) | gnomAD v4 |
| 8 | g.54627787T>A | CA370980687 | RP1 | c.3905T>A (p.Val1302Asp) c.787+5499T>A (n.787+5499T>A) c.3926T>A (p.Val1309Asp) | |
| 8 | g.54627787T>C | CA370980688 | RP1 | c.3905T>C (p.Val1302Ala) c.787+5499T>C (n.787+5499T>C) c.3926T>C (p.Val1309Ala) | |
| 8 | g.54627787T>G | CA370980689 | RP1 | c.3905T>G (p.Val1302Gly) c.787+5499T>G (n.787+5499T>G) c.3926T>G (p.Val1309Gly) | |
| 8 | g.54627788C>A | CA461099398 | RP1 | c.3906C>A (p.Val1302=) c.787+5500C>A (n.787+5500C>A) c.3927C>A (p.Val1309=) | |
| 8 | g.54627788C>G | CA461099400 | RP1 | c.3906C>G (p.Val1302=) c.787+5500C>G (n.787+5500C>G) c.3927C>G (p.Val1309=) | COSMIC |
| 8 | g.54627788C>T | CA461099399 | RP1 | c.3906C>T (p.Val1302=) c.787+5500C>T (n.787+5500C>T) c.3927C>T (p.Val1309=) | COSMIC |
| 8 | g.54627789T>A | CA370980692 | RP1 | c.3907T>A (p.Cys1303Ser) c.787+5501T>A (n.787+5501T>A) c.3928T>A (p.Cys1310Ser) | |
| 8 | g.54627789T>C | CA370980690 | RP1 | c.3907T>C (p.Cys1303Arg) c.787+5501T>C (n.787+5501T>C) c.3928T>C (p.Cys1310Arg) | dbSNP |
| 8 | g.54627789T>G | CA370980691 | RP1 | c.3907T>G (p.Cys1303Gly) c.787+5501T>G (n.787+5501T>G) c.3928T>G (p.Cys1310Gly) | |
| 8 | g.54627789T= | CA1785188888 | RP1 | c.3907T= (p.Cys1303=) c.787+5501T= (n.787+5501T=) c.3928T= (p.Cys1310=) | |
| 8 | g.54627790G>A | CA370980693 | RP1 | c.3908G>A (p.Cys1303Tyr) c.787+5502G>A (n.787+5502G>A) c.3929G>A (p.Cys1310Tyr) | |
| 8 | g.54627790G>C | CA370980694 | RP1 | c.3908G>C (p.Cys1303Ser) c.787+5502G>C (n.787+5502G>C) c.3929G>C (p.Cys1310Ser) | |
| 8 | g.54627790G>T | CA370980695 | RP1 | c.3908G>T (p.Cys1303Phe) c.787+5502G>T (n.787+5502G>T) c.3929G>T (p.Cys1310Phe) | |
| 8 | g.54627791T>A | CA370980696 | RP1 | c.3909T>A (p.Cys1303Ter) c.787+5503T>A (n.787+5503T>A) c.3930T>A (p.Cys1310Ter) | |
| 8 | g.54627791T>C | CA461099403 | RP1 | c.3909T>C (p.Cys1303=) c.787+5503T>C (n.787+5503T>C) c.3930T>C (p.Cys1310=) | |
| 8 | g.54627791T>G | CA370980697 | RP1 | c.3909T>G (p.Cys1303Trp) c.787+5503T>G (n.787+5503T>G) c.3930T>G (p.Cys1310Trp) | |
| 8 | g.54627792T>A | CA370980700 | RP1 | c.3910T>A (p.Ser1304Thr) c.787+5504T>A (n.787+5504T>A) c.3931T>A (p.Ser1311Thr) | |
| 8 | g.54627792T>C | CA370980699 | RP1 | c.3910T>C (p.Ser1304Pro) c.787+5504T>C (n.787+5504T>C) c.3931T>C (p.Ser1311Pro) | |
| 8 | g.54627792T>G | CA370980698 | RP1 | c.3910T>G (p.Ser1304Ala) c.787+5504T>G (n.787+5504T>G) c.3931T>G (p.Ser1311Ala) | |
| 8 | g.54627793C>A | CA370980701 | RP1 | c.3911C>A (p.Ser1304Ter) c.787+5505C>A (n.787+5505C>A) c.3932C>A (p.Ser1311Ter) | |
| 8 | g.54627793C>G | CA370980702 | RP1 | c.3911C>G (p.Ser1304Ter) c.787+5505C>G (n.787+5505C>G) c.3932C>G (p.Ser1311Ter) | |
| 8 | g.54627793C>T | CA370980703 | RP1 | c.3911C>T (p.Ser1304Leu) c.787+5505C>T (n.787+5505C>T) c.3932C>T (p.Ser1311Leu) | |
| 8 | g.54627794A= | CA1785188889 | RP1 | c.3912A= (p.Ser1304=) c.787+5506A= (n.787+5506A=) c.3933A= (p.Ser1311=) | |
| 8 | g.54627794A>C | CA461099419 | RP1 | c.3912A>C (p.Ser1304=) c.787+5506A>C (n.787+5506A>C) c.3933A>C (p.Ser1311=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627794A>G | CA461099420 | RP1 | c.3912A>G (p.Ser1304=) c.787+5506A>G (n.787+5506A>G) c.3933A>G (p.Ser1311=) | dbSNP gnomAD v4 |
| 8 | g.54627794A>T | CA461099421 | RP1 | c.3912A>T (p.Ser1304=) c.787+5506A>T (n.787+5506A>T) c.3933A>T (p.Ser1311=) | |
| 8 | g.54627795C>A | CA370980704 | RP1 | c.3913C>A (p.Leu1305Ile) c.787+5507C>A (n.787+5507C>A) c.3934C>A (p.Leu1312Ile) | |
| 8 | g.54627795C= | CA1785188890 | RP1 | c.3913C= (p.Leu1305=) c.787+5507C= (n.787+5507C=) c.3934C= (p.Leu1312=) | |
| 8 | g.54627795C>G | CA370980705 | RP1 | c.3913C>G (p.Leu1305Val) c.787+5507C>G (n.787+5507C>G) c.3934C>G (p.Leu1312Val) | |
| 8 | g.54627795C>T | CA4751766 | RP1 | c.3913C>T (p.Leu1305Phe) c.787+5507C>T (n.787+5507C>T) c.3934C>T (p.Leu1312Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627796T>A | CA370980708 | RP1 | c.3914T>A (p.Leu1305His) c.787+5508T>A (n.787+5508T>A) c.3935T>A (p.Leu1312His) | |
| 8 | g.54627796T>C | CA370980707 | RP1 | c.3914T>C (p.Leu1305Pro) c.787+5508T>C (n.787+5508T>C) c.3935T>C (p.Leu1312Pro) | |
| 8 | g.54627796T>G | CA370980706 | RP1 | c.3914T>G (p.Leu1305Arg) c.787+5508T>G (n.787+5508T>G) c.3935T>G (p.Leu1312Arg) | |
| 8 | g.54627796_54627802delinsTTACTGA | CA1785188891 | RP1 | c.3914_3920delinsTTACTGA (p.Leu1305=) c.787+5508_787+5514delinsTTACTGA (n.787+5508_787+5514delinsTTACTGA) c.3935_3941delinsTTACTGA (p.Leu1312=) | |
| 8 | g.54627797T>A | CA461099423 | RP1 | c.3915T>A (p.Leu1305=) c.787+5509T>A (n.787+5509T>A) c.3936T>A (p.Leu1312=) | |
| 8 | g.54627797T>C | CA461099426 | RP1 | c.3915T>C (p.Leu1305=) c.787+5509T>C (n.787+5509T>C) c.3936T>C (p.Leu1312=) | dbSNP gnomAD v4 |
| 8 | g.54627797T>G | CA461099427 | RP1 | c.3915T>G (p.Leu1305=) c.787+5509T>G (n.787+5509T>G) c.3936T>G (p.Leu1312=) | |
| 8 | g.54627797T= | CA1785188892 | RP1 | c.3915T= (p.Leu1305=) c.787+5509T= (n.787+5509T=) c.3936T= (p.Leu1312=) | |
| 8 | g.54627802_54627807del | CA177180869 | RP1 | c.3920_3925del (p.Asp1307_Thr1308del) c.787+5514_787+5519del (n.787+5514_787+5519del) c.3941_3946del (p.Asp1314_Thr1315del) | dbSNP |
| 8 | g.54627798A= | CA1785188893 | RP1 | c.3916A= (p.Thr1306=) c.787+5510A= (n.787+5510A=) c.3937A= (p.Thr1313=) | |
| 8 | g.54627798A>C | CA370980709 | RP1 | c.3916A>C (p.Thr1306Pro) c.787+5510A>C (n.787+5510A>C) c.3937A>C (p.Thr1313Pro) | |
| 8 | g.54627798A>G | CA370980710 | RP1 | c.3916A>G (p.Thr1306Ala) c.787+5510A>G (n.787+5510A>G) c.3937A>G (p.Thr1313Ala) | dbSNP gnomAD v4 |
| 8 | g.54627798A>T | CA370980711 | RP1 | c.3916A>T (p.Thr1306Ser) c.787+5510A>T (n.787+5510A>T) c.3937A>T (p.Thr1313Ser) | |
| 8 | g.54627799C>A | CA370980712 | RP1 | c.3917C>A (p.Thr1306Asn) c.787+5511C>A (n.787+5511C>A) c.3938C>A (p.Thr1313Asn) | |
| 8 | g.54627799C>G | CA370980713 | RP1 | c.3917C>G (p.Thr1306Ser) c.787+5511C>G (n.787+5511C>G) c.3938C>G (p.Thr1313Ser) | |
| 8 | g.54627799C>T | CA370980714 | RP1 | c.3917C>T (p.Thr1306Ile) c.787+5511C>T (n.787+5511C>T) c.3938C>T (p.Thr1313Ile) | |
| 8 | g.54627800T>A | CA461099435 | RP1 | c.3918T>A (p.Thr1306=) c.787+5512T>A (n.787+5512T>A) c.3939T>A (p.Thr1313=) | |
| 8 | g.54627800T>C | CA461099436 | RP1 | c.3918T>C (p.Thr1306=) c.787+5512T>C (n.787+5512T>C) c.3939T>C (p.Thr1313=) | dbSNP |
| 8 | g.54627800T>G | CA461099438 | RP1 | c.3918T>G (p.Thr1306=) c.787+5512T>G (n.787+5512T>G) c.3939T>G (p.Thr1313=) | |
| 8 | g.54627801G>A | CA370980715 | RP1 | c.3919G>A (p.Asp1307Asn) c.787+5513G>A (n.787+5513G>A) c.3940G>A (p.Asp1314Asn) | COSMIC |
| 8 | g.54627801G>C | CA370980716 | RP1 | c.3919G>C (p.Asp1307His) c.787+5513G>C (n.787+5513G>C) c.3940G>C (p.Asp1314His) | |
| 8 | g.54627801G= | CA1785188894 | RP1 | c.3919G= (p.Asp1307=) c.787+5513G= (n.787+5513G=) c.3940G= (p.Asp1314=) | |
| 8 | g.54627801G>T | CA177180891 | RP1 | c.3919G>T (p.Asp1307Tyr) c.787+5513G>T (n.787+5513G>T) c.3940G>T (p.Asp1314Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627802A>C | CA370980717 | RP1 | c.3920A>C (p.Asp1307Ala) c.787+5514A>C (n.787+5514A>C) c.3941A>C (p.Asp1314Ala) | |
| 8 | g.54627802A>G | CA370980718 | RP1 | c.3920A>G (p.Asp1307Gly) c.787+5514A>G (n.787+5514A>G) c.3941A>G (p.Asp1314Gly) | |
| 8 | g.54627802A>T | CA370980719 | RP1 | c.3920A>T (p.Asp1307Val) c.787+5514A>T (n.787+5514A>T) c.3941A>T (p.Asp1314Val) | |
| 8 | g.54627803T>A | CA370980720 | RP1 | c.3921T>A (p.Asp1307Glu) c.787+5515T>A (n.787+5515T>A) c.3942T>A (p.Asp1314Glu) | |
| 8 | g.54627803T>C | CA4751767 | RP1 | c.3921T>C (p.Asp1307=) c.787+5515T>C (n.787+5515T>C) c.3942T>C (p.Asp1314=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627803T>G | CA370980721 | RP1 | c.3921T>G (p.Asp1307Glu) c.787+5515T>G (n.787+5515T>G) c.3942T>G (p.Asp1314Glu) | |
| 8 | g.54627803T= | CA1785188895 | RP1 | c.3921T= (p.Asp1307=) c.787+5515T= (n.787+5515T=) c.3942T= (p.Asp1314=) | |
| 8 | g.54627803_54627808dup | CA2687301880 | RP1 | c.3921_3926dup (p.Val1309_Phe1310insThrVal) c.787+5515_787+5520dup (n.787+5515_787+5520dup) c.3942_3947dup (p.Val1316_Phe1317insThrVal) | gnomAD v4 |
| 8 | g.54627804A>C | CA370980722 | RP1 | c.3922A>C (p.Thr1308Pro) c.787+5516A>C (n.787+5516A>C) c.3943A>C (p.Thr1315Pro) | |
| 8 | g.54627804A>G | CA370980723 | RP1 | c.3922A>G (p.Thr1308Ala) c.787+5516A>G (n.787+5516A>G) c.3943A>G (p.Thr1315Ala) | gnomAD v4 |
| 8 | g.54627804A>T | CA370980724 | RP1 | c.3922A>T (p.Thr1308Ser) c.787+5516A>T (n.787+5516A>T) c.3943A>T (p.Thr1315Ser) | |
| 8 | g.54627805C>A | CA370980725 | RP1 | c.3923C>A (p.Thr1308Asn) c.787+5517C>A (n.787+5517C>A) c.3944C>A (p.Thr1315Asn) | COSMIC |
| 8 | g.54627805C>G | CA370980726 | RP1 | c.3923C>G (p.Thr1308Ser) c.787+5517C>G (n.787+5517C>G) c.3944C>G (p.Thr1315Ser) | |
| 8 | g.54627805C>T | CA370980727 | RP1 | c.3923C>T (p.Thr1308Ile) c.787+5517C>T (n.787+5517C>T) c.3944C>T (p.Thr1315Ile) | |
| 8 | g.54627806T>A | CA461099450 | RP1 | c.3924T>A (p.Thr1308=) c.787+5518T>A (n.787+5518T>A) c.3945T>A (p.Thr1315=) | |
| 8 | g.54627806T>C | CA461099453 | RP1 | c.3924T>C (p.Thr1308=) c.787+5518T>C (n.787+5518T>C) c.3945T>C (p.Thr1315=) | dbSNP |
| 8 | g.54627806T>G | CA461099452 | RP1 | c.3924T>G (p.Thr1308=) c.787+5518T>G (n.787+5518T>G) c.3945T>G (p.Thr1315=) | |
| 8 | g.54627806T= | CA1785188896 | RP1 | c.3924T= (p.Thr1308=) c.787+5518T= (n.787+5518T=) c.3945T= (p.Thr1315=) | |
| 8 | g.54627807G>A | CA370980728 | RP1 | c.3925G>A (p.Val1309Met) c.787+5519G>A (n.787+5519G>A) c.3946G>A (p.Val1316Met) | |
| 8 | g.54627807G>C | CA370980730 | RP1 | c.3925G>C (p.Val1309Leu) c.787+5519G>C (n.787+5519G>C) c.3946G>C (p.Val1316Leu) | |
| 8 | g.54627807G>T | CA370980729 | RP1 | c.3925G>T (p.Val1309Leu) c.787+5519G>T (n.787+5519G>T) c.3946G>T (p.Val1316Leu) | |
| 8 | g.54627808T>A | CA370980731 | RP1 | c.3926T>A (p.Val1309Glu) c.787+5520T>A (n.787+5520T>A) c.3947T>A (p.Val1316Glu) | |
| 8 | g.54627808T>C | CA370980732 | RP1 | c.3926T>C (p.Val1309Ala) c.787+5520T>C (n.787+5520T>C) c.3947T>C (p.Val1316Ala) | |
| 8 | g.54627808T>G | CA370980733 | RP1 | c.3926T>G (p.Val1309Gly) c.787+5520T>G (n.787+5520T>G) c.3947T>G (p.Val1316Gly) | |
| 8 | g.54627809G>A | CA461099458 | RP1 | c.3927G>A (p.Val1309=) c.787+5521G>A (n.787+5521G>A) c.3948G>A (p.Val1316=) | |
| 8 | g.54627809G>C | CA461099459 | RP1 | c.3927G>C (p.Val1309=) c.787+5521G>C (n.787+5521G>C) c.3948G>C (p.Val1316=) | |
| 8 | g.54627809G>T | CA461099460 | RP1 | c.3927G>T (p.Val1309=) c.787+5521G>T (n.787+5521G>T) c.3948G>T (p.Val1316=) | |
| 8 | g.54627810T>A | CA370980734 | RP1 | c.3928T>A (p.Phe1310Ile) c.787+5522T>A (n.787+5522T>A) c.3949T>A (p.Phe1317Ile) | |
| 8 | g.54627810T>C | CA370980735 | RP1 | c.3928T>C (p.Phe1310Leu) c.787+5522T>C (n.787+5522T>C) c.3949T>C (p.Phe1317Leu) | |
| 8 | g.54627810T>G | CA370980736 | RP1 | c.3928T>G (p.Phe1310Val) c.787+5522T>G (n.787+5522T>G) c.3949T>G (p.Phe1317Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627810T= | CA1785188897 | RP1 | c.3928T= (p.Phe1310=) c.787+5522T= (n.787+5522T=) c.3949T= (p.Phe1317=) | |
| 8 | g.54627811T>A | CA370980739 | RP1 | c.3929T>A (p.Phe1310Tyr) c.787+5523T>A (n.787+5523T>A) c.3950T>A (p.Phe1317Tyr) | |
| 8 | g.54627811T>C | CA370980737 | RP1 | c.3929T>C (p.Phe1310Ser) c.787+5523T>C (n.787+5523T>C) c.3950T>C (p.Phe1317Ser) | dbSNP gnomAD v4 |
| 8 | g.54627811T>G | CA370980738 | RP1 | c.3929T>G (p.Phe1310Cys) c.787+5523T>G (n.787+5523T>G) c.3950T>G (p.Phe1317Cys) | |
| 8 | g.54627812T>A | CA370980740 | RP1 | c.3930T>A (p.Phe1310Leu) c.787+5524T>A (n.787+5524T>A) c.3951T>A (p.Phe1317Leu) | |
| 8 | g.54627812T>C | CA461099475 | RP1 | c.3930T>C (p.Phe1310=) c.787+5524T>C (n.787+5524T>C) c.3951T>C (p.Phe1317=) | |
| 8 | g.54627812T>G | CA370980741 | RP1 | c.3930T>G (p.Phe1310Leu) c.787+5524T>G (n.787+5524T>G) c.3951T>G (p.Phe1317Leu) | |
| 8 | g.54627813T>A | CA370980742 | RP1 | c.3931T>A (p.Ser1311Thr) c.787+5525T>A (n.787+5525T>A) c.3952T>A (p.Ser1318Thr) | |
| 8 | g.54627813T>C | CA370980743 | RP1 | c.3931T>C (p.Ser1311Pro) c.787+5525T>C (n.787+5525T>C) c.3952T>C (p.Ser1318Pro) | |
| 8 | g.54627813T>G | CA370980744 | RP1 | c.3931T>G (p.Ser1311Ala) c.787+5525T>G (n.787+5525T>G) c.3952T>G (p.Ser1318Ala) | |
| 8 | g.54627814C>A | CA370980745 | RP1 | c.3932C>A (p.Ser1311Tyr) c.787+5526C>A (n.787+5526C>A) c.3953C>A (p.Ser1318Tyr) | |
| 8 | g.54627814C>G | CA370980747 | RP1 | c.3932C>G (p.Ser1311Cys) c.787+5526C>G (n.787+5526C>G) c.3953C>G (p.Ser1318Cys) | |
| 8 | g.54627814C>T | CA370980746 | RP1 | c.3932C>T (p.Ser1311Phe) c.787+5526C>T (n.787+5526C>T) c.3953C>T (p.Ser1318Phe) | gnomAD v4 |
| 8 | g.54627815T>A | CA461099489 | RP1 | c.3933T>A (p.Ser1311=) c.787+5527T>A (n.787+5527T>A) c.3954T>A (p.Ser1318=) | |
| 8 | g.54627815T>C | CA461099491 | RP1 | c.3933T>C (p.Ser1311=) c.787+5527T>C (n.787+5527T>C) c.3954T>C (p.Ser1318=) | |
| 8 | g.54627815T>G | CA461099492 | RP1 | c.3933T>G (p.Ser1311=) c.787+5527T>G (n.787+5527T>G) c.3954T>G (p.Ser1318=) | |
| 8 | g.54627816G>A | CA370980748 | RP1 | c.3934G>A (p.Asp1312Asn) c.787+5528G>A (n.787+5528G>A) c.3955G>A (p.Asp1319Asn) | ClinVar gnomAD v4 COSMIC |
| 8 | g.54627816G>C | CA370980749 | RP1 | c.3934G>C (p.Asp1312His) c.787+5528G>C (n.787+5528G>C) c.3955G>C (p.Asp1319His) | |
| 8 | g.54627816G>T | CA370980750 | RP1 | c.3934G>T (p.Asp1312Tyr) c.787+5528G>T (n.787+5528G>T) c.3955G>T (p.Asp1319Tyr) | |
| 8 | g.54627817A>C | CA370980751 | RP1 | c.3935A>C (p.Asp1312Ala) c.787+5529A>C (n.787+5529A>C) c.3956A>C (p.Asp1319Ala) | |
| 8 | g.54627817A>G | CA370980752 | RP1 | c.3935A>G (p.Asp1312Gly) c.787+5529A>G (n.787+5529A>G) c.3956A>G (p.Asp1319Gly) | |
| 8 | g.54627817A>T | CA370980753 | RP1 | c.3935A>T (p.Asp1312Val) c.787+5529A>T (n.787+5529A>T) c.3956A>T (p.Asp1319Val) | gnomAD v4 |