| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54627949_54627990del | CA2780387048 | RP1 | c.4067_4108del (p.Leu1356Ter) c.787+5661_787+5702del (n.787+5661_787+5702del) c.4088_4129del (p.Leu1363Ter) | |
| 8 | g.54627950G>A | CA461099853 | RP1 | c.4068G>A (p.Leu1356=) c.787+5662G>A (n.787+5662G>A) c.4089G>A (p.Leu1363=) | |
| 8 | g.54627950G>C | CA370981195 | RP1 | c.4068G>C (p.Leu1356Phe) c.787+5662G>C (n.787+5662G>C) c.4089G>C (p.Leu1363Phe) | |
| 8 | g.54627950G>T | CA370981194 | RP1 | c.4068G>T (p.Leu1356Phe) c.787+5662G>T (n.787+5662G>T) c.4089G>T (p.Leu1363Phe) | |
| 8 | g.54627951G>A | CA370981196 | RP1 | c.4069G>A (p.Asp1357Asn) c.787+5663G>A (n.787+5663G>A) c.4090G>A (p.Asp1364Asn) | COSMIC |
| 8 | g.54627951G>C | CA370981198 | RP1 | c.4069G>C (p.Asp1357His) c.787+5663G>C (n.787+5663G>C) c.4090G>C (p.Asp1364His) | |
| 8 | g.54627951G= | CA1785188958 | RP1 | c.4069G= (p.Asp1357=) c.787+5663G= (n.787+5663G=) c.4090G= (p.Asp1364=) | |
| 8 | g.54627951G>T | CA370981197 | RP1 | c.4069G>T (p.Asp1357Tyr) c.787+5663G>T (n.787+5663G>T) c.4090G>T (p.Asp1364Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627951_54627953del | CA2503108626 | RP1 | c.4069_4071del (p.Asp1357del) c.787+5663_787+5665del (n.787+5663_787+5665del) c.4090_4092del (p.Asp1364del) | |
| 8 | g.54627952A>C | CA370981199 | RP1 | c.4070A>C (p.Asp1357Ala) c.787+5664A>C (n.787+5664A>C) c.4091A>C (p.Asp1364Ala) | |
| 8 | g.54627952A>G | CA370981200 | RP1 | c.4070A>G (p.Asp1357Gly) c.787+5664A>G (n.787+5664A>G) c.4091A>G (p.Asp1364Gly) | gnomAD v4 |
| 8 | g.54627952A>T | CA370981201 | RP1 | c.4070A>T (p.Asp1357Val) c.787+5664A>T (n.787+5664A>T) c.4091A>T (p.Asp1364Val) | |
| 8 | g.54627953T>A | CA370981202 | RP1 | c.4071T>A (p.Asp1357Glu) c.787+5665T>A (n.787+5665T>A) c.4092T>A (p.Asp1364Glu) | |
| 8 | g.54627953T>C | CA461099857 | RP1 | c.4071T>C (p.Asp1357=) c.787+5665T>C (n.787+5665T>C) c.4092T>C (p.Asp1364=) | |
| 8 | g.54627953T>G | CA370981203 | RP1 | c.4071T>G (p.Asp1357Glu) c.787+5665T>G (n.787+5665T>G) c.4092T>G (p.Asp1364Glu) | COSMIC |
| 8 | g.54627953_54627954insAC | CA2780387049 | RP1 | c.4071_4072insAC (p.Ser1358ThrfsTer6) c.787+5665_787+5666insAC (n.787+5665_787+5666insAC) c.4092_4093insAC (p.Ser1365ThrfsTer6) | |
| 8 | g.54627954T>A | CA370981204 | RP1 | c.4072T>A (p.Ser1358Thr) c.787+5666T>A (n.787+5666T>A) c.4093T>A (p.Ser1365Thr) | |
| 8 | g.54627954T>C | CA370981205 | RP1 | c.4072T>C (p.Ser1358Pro) c.787+5666T>C (n.787+5666T>C) c.4093T>C (p.Ser1365Pro) | |
| 8 | g.54627954T>G | CA177181147 | RP1 | c.4072T>G (p.Ser1358Ala) c.787+5666T>G (n.787+5666T>G) c.4093T>G (p.Ser1365Ala) | dbSNP |
| 8 | g.54627954T= | CA1785188959 | RP1 | c.4072T= (p.Ser1358=) c.787+5666T= (n.787+5666T=) c.4093T= (p.Ser1365=) | |
| 8 | g.54627955C>A | CA370981206 | RP1 | c.4073C>A (p.Ser1358Ter) c.787+5667C>A (n.787+5667C>A) c.4094C>A (p.Ser1365Ter) | |
| 8 | g.54627955C= | CA1785188960 | RP1 | c.4073C= (p.Ser1358=) c.787+5667C= (n.787+5667C=) c.4094C= (p.Ser1365=) | |
| 8 | g.54627955C>G | CA370981207 | RP1 | c.4073C>G (p.Ser1358Ter) c.787+5667C>G (n.787+5667C>G) c.4094C>G (p.Ser1365Ter) | |
| 8 | g.54627955C>T | CA370981208 | RP1 | c.4073C>T (p.Ser1358Leu) c.787+5667C>T (n.787+5667C>T) c.4094C>T (p.Ser1365Leu) | dbSNP |
| 8 | g.54627956A>C | CA461099861 | RP1 | c.4074A>C (p.Ser1358=) c.787+5668A>C (n.787+5668A>C) c.4095A>C (p.Ser1365=) | |
| 8 | g.54627956A>G | CA461099863 | RP1 | c.4074A>G (p.Ser1358=) c.787+5668A>G (n.787+5668A>G) c.4095A>G (p.Ser1365=) | |
| 8 | g.54627956A>T | CA461099860 | RP1 | c.4074A>T (p.Ser1358=) c.787+5668A>T (n.787+5668A>T) c.4095A>T (p.Ser1365=) | |
| 8 | g.54627957A= | CA1785188961 | RP1 | c.4075A= (p.Thr1359=) c.787+5669A= (n.787+5669A=) c.4096A= (p.Thr1366=) | |
| 8 | g.54627957A>C | CA370981210 | RP1 | c.4075A>C (p.Thr1359Pro) c.787+5669A>C (n.787+5669A>C) c.4096A>C (p.Thr1366Pro) | |
| 8 | g.54627957A>G | CA177181154 | RP1 | c.4075A>G (p.Thr1359Ala) c.787+5669A>G (n.787+5669A>G) c.4096A>G (p.Thr1366Ala) | dbSNP gnomAD v4 |
| 8 | g.54627957A>T | CA370981209 | RP1 | c.4075A>T (p.Thr1359Ser) c.787+5669A>T (n.787+5669A>T) c.4096A>T (p.Thr1366Ser) | |
| 8 | g.54627957_54627958del | CA2553415312 | RP1 | c.4075_4076del (p.Thr1359Ter) c.787+5669_787+5670del (n.787+5669_787+5670del) c.4096_4097del (p.Thr1366Ter) | |
| 8 | g.54627958C>A | CA370981211 | RP1 | c.4076C>A (p.Thr1359Asn) c.787+5670C>A (n.787+5670C>A) c.4097C>A (p.Thr1366Asn) | |
| 8 | g.54627958C= | CA1785188962 | RP1 | c.4076C= (p.Thr1359=) c.787+5670C= (n.787+5670C=) c.4097C= (p.Thr1366=) | |
| 8 | g.54627958C>G | CA370981212 | RP1 | c.4076C>G (p.Thr1359Ser) c.787+5670C>G (n.787+5670C>G) c.4097C>G (p.Thr1366Ser) | COSMIC |
| 8 | g.54627958C>T | CA370981213 | RP1 | c.4076C>T (p.Thr1359Ile) c.787+5670C>T (n.787+5670C>T) c.4097C>T (p.Thr1366Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627959T>A | CA461099864 | RP1 | c.4077T>A (p.Thr1359=) c.787+5671T>A (n.787+5671T>A) c.4098T>A (p.Thr1366=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627959T>C | CA461099865 | RP1 | c.4077T>C (p.Thr1359=) c.787+5671T>C (n.787+5671T>C) c.4098T>C (p.Thr1366=) | |
| 8 | g.54627959T>G | CA4751795 | RP1 | c.4077T>G (p.Thr1359=) c.787+5671T>G (n.787+5671T>G) c.4098T>G (p.Thr1366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54627959T= | CA1785188963 | RP1 | c.4077T= (p.Thr1359=) c.787+5671T= (n.787+5671T=) c.4098T= (p.Thr1366=) | |
| 8 | g.54627960G>A | CA370981214 | RP1 | c.4078G>A (p.Glu1360Lys) c.787+5672G>A (n.787+5672G>A) c.4099G>A (p.Glu1367Lys) | COSMIC |
| 8 | g.54627960G>C | CA370981215 | RP1 | c.4078G>C (p.Glu1360Gln) c.787+5672G>C (n.787+5672G>C) c.4099G>C (p.Glu1367Gln) | |
| 8 | g.54627960G>T | CA370981216 | RP1 | c.4078G>T (p.Glu1360Ter) c.787+5672G>T (n.787+5672G>T) c.4099G>T (p.Glu1367Ter) | |
| 8 | g.54627960_54627963del | CA2521825138 | RP1 | c.4078_4081del (p.Glu1360SerfsTer2) c.787+5672_787+5675del (n.787+5672_787+5675del) c.4099_4102del (p.Glu1367SerfsTer2) | |
| 8 | g.54627961A= | CA1785188964 | RP1 | c.4079A= (p.Glu1360=) c.787+5673A= (n.787+5673A=) c.4100A= (p.Glu1367=) | |
| 8 | g.54627961A>C | CA4751796 | RP1 | c.4079A>C (p.Glu1360Ala) c.787+5673A>C (n.787+5673A>C) c.4100A>C (p.Glu1367Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627961A>G | CA370981217 | RP1 | c.4079A>G (p.Glu1360Gly) c.787+5673A>G (n.787+5673A>G) c.4100A>G (p.Glu1367Gly) | |
| 8 | g.54627961A>T | CA370981218 | RP1 | c.4079A>T (p.Glu1360Val) c.787+5673A>T (n.787+5673A>T) c.4100A>T (p.Glu1367Val) | |
| 8 | g.54627962A>C | CA370981219 | RP1 | c.4080A>C (p.Glu1360Asp) c.787+5674A>C (n.787+5674A>C) c.4101A>C (p.Glu1367Asp) | |
| 8 | g.54627962A>G | CA461099867 | RP1 | c.4080A>G (p.Glu1360=) c.787+5674A>G (n.787+5674A>G) c.4101A>G (p.Glu1367=) | |
| 8 | g.54627962A>T | CA370981220 | RP1 | c.4080A>T (p.Glu1360Asp) c.787+5674A>T (n.787+5674A>T) c.4101A>T (p.Glu1367Asp) | |
| 8 | g.54627963G>A | CA370981223 | RP1 | c.4081G>A (p.Glu1361Lys) c.787+5675G>A (n.787+5675G>A) c.4102G>A (p.Glu1368Lys) | ClinVar dbSNP |
| 8 | g.54627963G>C | CA370981222 | RP1 | c.4081G>C (p.Glu1361Gln) c.787+5675G>C (n.787+5675G>C) c.4102G>C (p.Glu1368Gln) | |
| 8 | g.54627963G= | CA1785188965 | RP1 | c.4081G= (p.Glu1361=) c.787+5675G= (n.787+5675G=) c.4102G= (p.Glu1368=) | |
| 8 | g.54627963G>T | CA370981221 | RP1 | c.4081G>T (p.Glu1361Ter) c.787+5675G>T (n.787+5675G>T) c.4102G>T (p.Glu1368Ter) | |
| 8 | g.54627964A>C | CA370981224 | RP1 | c.4082A>C (p.Glu1361Ala) c.787+5676A>C (n.787+5676A>C) c.4103A>C (p.Glu1368Ala) | gnomAD v4 |
| 8 | g.54627964A>G | CA370981225 | RP1 | c.4082A>G (p.Glu1361Gly) c.787+5676A>G (n.787+5676A>G) c.4103A>G (p.Glu1368Gly) | |
| 8 | g.54627964A>T | CA370981226 | RP1 | c.4082A>T (p.Glu1361Val) c.787+5676A>T (n.787+5676A>T) c.4103A>T (p.Glu1368Val) | |
| 8 | g.54627964_54627965insAC | CA2780387050 | RP1 | c.4082_4083insAC (p.Leu1362ArgfsTer2) c.787+5676_787+5677insAC (n.787+5676_787+5677insAC) c.4103_4104insAC (p.Leu1369ArgfsTer2) | |
| 8 | g.54627965G>A | CA4751797 | RP1 | c.4083G>A (p.Glu1361=) c.787+5677G>A (n.787+5677G>A) c.4104G>A (p.Glu1368=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627965G>C | CA370981227 | RP1 | c.4083G>C (p.Glu1361Asp) c.787+5677G>C (n.787+5677G>C) c.4104G>C (p.Glu1368Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627965G= | CA1785188966 | RP1 | c.4083G= (p.Glu1361=) c.787+5677G= (n.787+5677G=) c.4104G= (p.Glu1368=) | |
| 8 | g.54627965G>T | CA370981228 | RP1 | c.4083G>T (p.Glu1361Asp) c.787+5677G>T (n.787+5677G>T) c.4104G>T (p.Glu1368Asp) | gnomAD v4 |
| 8 | g.54627966T>A | CA370981229 | RP1 | c.4084T>A (p.Leu1362Ile) c.787+5678T>A (n.787+5678T>A) c.4105T>A (p.Leu1369Ile) | |
| 8 | g.54627966T>C | CA461099873 | RP1 | c.4084T>C (p.Leu1362=) c.787+5678T>C (n.787+5678T>C) c.4105T>C (p.Leu1369=) | |
| 8 | g.54627966T>G | CA370981230 | RP1 | c.4084T>G (p.Leu1362Val) c.787+5678T>G (n.787+5678T>G) c.4105T>G (p.Leu1369Val) | |
| 8 | g.54627967T>A | CA370981231 | RP1 | c.4085T>A (p.Leu1362Ter) c.787+5679T>A (n.787+5679T>A) c.4106T>A (p.Leu1369Ter) | |
| 8 | g.54627967T>C | CA370981232 | RP1 | c.4085T>C (p.Leu1362Ser) c.787+5679T>C (n.787+5679T>C) c.4106T>C (p.Leu1369Ser) | |
| 8 | g.54627967T>G | CA370981233 | RP1 | c.4085T>G (p.Leu1362Ter) c.787+5679T>G (n.787+5679T>G) c.4106T>G (p.Leu1369Ter) | |
| 8 | g.54627968A>C | CA370981234 | RP1 | c.4086A>C (p.Leu1362Phe) c.787+5680A>C (n.787+5680A>C) c.4107A>C (p.Leu1369Phe) | |
| 8 | g.54627968A>G | CA461099878 | RP1 | c.4086A>G (p.Leu1362=) c.787+5680A>G (n.787+5680A>G) c.4107A>G (p.Leu1369=) | |
| 8 | g.54627968A>T | CA370981235 | RP1 | c.4086A>T (p.Leu1362Phe) c.787+5680A>T (n.787+5680A>T) c.4107A>T (p.Leu1369Phe) | |
| 8 | g.54627971_54627974del | CA2687301980 | RP1 | c.4089_4092del (p.Arg1364ValfsTer8) c.787+5683_787+5686del (n.787+5683_787+5686del) c.4110_4113del (p.Arg1371ValfsTer8) | ClinVar gnomAD v4 |
| 8 | g.54627969G>A | CA370981238 | RP1 | c.4087G>A (p.Glu1363Lys) c.787+5681G>A (n.787+5681G>A) c.4108G>A (p.Glu1370Lys) | dbSNP |
| 8 | g.54627969G>C | CA370981236 | RP1 | c.4087G>C (p.Glu1363Gln) c.787+5681G>C (n.787+5681G>C) c.4108G>C (p.Glu1370Gln) | |
| 8 | g.54627969G= | CA1785188967 | RP1 | c.4087G= (p.Glu1363=) c.787+5681G= (n.787+5681G=) c.4108G= (p.Glu1370=) | |
| 8 | g.54627969G>T | CA370981237 | RP1 | c.4087G>T (p.Glu1363Ter) c.787+5681G>T (n.787+5681G>T) c.4108G>T (p.Glu1370Ter) | |
| 8 | g.54627969_54627985del | CA2523656826 | RP1 | c.4087_4103del (p.Glu1363SerfsTer11) c.787+5681_787+5697del (n.787+5681_787+5697del) c.4108_4124del (p.Glu1370SerfsTer11) | |
| 8 | g.54627970A= | CA1785188968 | RP1 | c.4088A= (p.Glu1363=) c.787+5682A= (n.787+5682A=) c.4109A= (p.Glu1370=) | |
| 8 | g.54627970A>C | CA370981239 | RP1 | c.4088A>C (p.Glu1363Ala) c.787+5682A>C (n.787+5682A>C) c.4109A>C (p.Glu1370Ala) | |
| 8 | g.54627970A>G | CA370981240 | RP1 | c.4088A>G (p.Glu1363Gly) c.787+5682A>G (n.787+5682A>G) c.4109A>G (p.Glu1370Gly) | dbSNP gnomAD v4 |
| 8 | g.54627970A>T | CA370981241 | RP1 | c.4088A>T (p.Glu1363Val) c.787+5682A>T (n.787+5682A>T) c.4109A>T (p.Glu1370Val) | |
| 8 | g.54627971A>C | CA370981242 | RP1 | c.4089A>C (p.Glu1363Asp) c.787+5683A>C (n.787+5683A>C) c.4110A>C (p.Glu1370Asp) | |
| 8 | g.54627971A>G | CA461099880 | RP1 | c.4089A>G (p.Glu1363=) c.787+5683A>G (n.787+5683A>G) c.4110A>G (p.Glu1370=) | |
| 8 | g.54627971A>T | CA370981243 | RP1 | c.4089A>T (p.Glu1363Asp) c.787+5683A>T (n.787+5683A>T) c.4110A>T (p.Glu1370Asp) | |
| 8 | g.54627972A>C | CA461099882 | RP1 | c.4090A>C (p.Arg1364=) c.787+5684A>C (n.787+5684A>C) c.4111A>C (p.Arg1371=) | |
| 8 | g.54627972A>G | CA370981244 | RP1 | c.4090A>G (p.Arg1364Gly) c.787+5684A>G (n.787+5684A>G) c.4111A>G (p.Arg1371Gly) | |
| 8 | g.54627972A>T | CA370981245 | RP1 | c.4090A>T (p.Arg1364Ter) c.787+5684A>T (n.787+5684A>T) c.4111A>T (p.Arg1371Ter) | |
| 8 | g.54627973G>A | CA4751798 | RP1 | c.4091G>A (p.Arg1364Lys) c.787+5685G>A (n.787+5685G>A) c.4112G>A (p.Arg1371Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54627973G>C | CA370981246 | RP1 | c.4091G>C (p.Arg1364Thr) c.787+5685G>C (n.787+5685G>C) c.4112G>C (p.Arg1371Thr) | dbSNP COSMIC |
| 8 | g.54627973G= | CA1785188969 | RP1 | c.4091G= (p.Arg1364=) c.787+5685G= (n.787+5685G=) c.4112G= (p.Arg1371=) | |
| 8 | g.54627973G>T | CA370981247 | RP1 | c.4091G>T (p.Arg1364Ile) c.787+5685G>T (n.787+5685G>T) c.4112G>T (p.Arg1371Ile) | |
| 8 | g.54627974A= | CA1785188970 | RP1 | c.4092A= (p.Arg1364=) c.787+5686A= (n.787+5686A=) c.4113A= (p.Arg1371=) | |
| 8 | g.54627974A>C | CA370981248 | RP1 | c.4092A>C (p.Arg1364Ser) c.787+5686A>C (n.787+5686A>C) c.4113A>C (p.Arg1371Ser) | |
| 8 | g.54627974A>G | CA461099887 | RP1 | c.4092A>G (p.Arg1364=) c.787+5686A>G (n.787+5686A>G) c.4113A>G (p.Arg1371=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627974A>T | CA370981249 | RP1 | c.4092A>T (p.Arg1364Ser) c.787+5686A>T (n.787+5686A>T) c.4113A>T (p.Arg1371Ser) | |
| 8 | g.54627974_54627975delinsAG | CA1785188971 | RP1 | c.4092_4093delinsAG (p.Arg1364=) c.787+5686_787+5687delinsAG (n.787+5686_787+5687delinsAG) c.4113_4114delinsAG (p.Arg1371=) | |
| 8 | g.54627975G>A | CA370981251 | RP1 | c.4093G>A (p.Gly1365Ser) c.787+5687G>A (n.787+5687G>A) c.4114G>A (p.Gly1372Ser) | gnomAD v4 |
| 8 | g.54627975G>C | CA370981252 | RP1 | c.4093G>C (p.Gly1365Arg) c.787+5687G>C (n.787+5687G>C) c.4114G>C (p.Gly1372Arg) | |
| 8 | g.54627975G>T | CA370981250 | RP1 | c.4093G>T (p.Gly1365Cys) c.787+5687G>T (n.787+5687G>T) c.4114G>T (p.Gly1372Cys) | COSMIC |
| 8 | g.54627976del | CA1139660541 | RP1 | c.4094del (p.Gly1365ValfsTer8) c.787+5688del (n.787+5688del) c.4115del (p.Gly1372ValfsTer8) | ClinVar dbSNP |
| 8 | g.54627976G>A | CA4751799 | RP1 | c.4094G>A (p.Gly1365Asp) c.787+5688G>A (n.787+5688G>A) c.4115G>A (p.Gly1372Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627976G>C | CA370981253 | RP1 | c.4094G>C (p.Gly1365Ala) c.787+5688G>C (n.787+5688G>C) c.4115G>C (p.Gly1372Ala) | |
| 8 | g.54627976G= | CA1785188972 | RP1 | c.4094G= (p.Gly1365=) c.787+5688G= (n.787+5688G=) c.4115G= (p.Gly1372=) | |
| 8 | g.54627976G>T | CA370981254 | RP1 | c.4094G>T (p.Gly1365Val) c.787+5688G>T (n.787+5688G>T) c.4115G>T (p.Gly1372Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627977T>A | CA461099890 | RP1 | c.4095T>A (p.Gly1365=) c.787+5689T>A (n.787+5689T>A) c.4116T>A (p.Gly1372=) | |
| 8 | g.54627977T>C | CA461099891 | RP1 | c.4095T>C (p.Gly1365=) c.787+5689T>C (n.787+5689T>C) c.4116T>C (p.Gly1372=) | |
| 8 | g.54627977T>G | CA461099892 | RP1 | c.4095T>G (p.Gly1365=) c.787+5689T>G (n.787+5689T>G) c.4116T>G (p.Gly1372=) | |
| 8 | g.54627978G>A | CA370981255 | RP1 | c.4096G>A (p.Asp1366Asn) c.787+5690G>A (n.787+5690G>A) c.4117G>A (p.Asp1373Asn) | |
| 8 | g.54627978G>C | CA177181219 | RP1 | c.4096G>C (p.Asp1366His) c.787+5690G>C (n.787+5690G>C) c.4117G>C (p.Asp1373His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627978G= | CA1785188973 | RP1 | c.4096G= (p.Asp1366=) c.787+5690G= (n.787+5690G=) c.4117G= (p.Asp1373=) | |
| 8 | g.54627978G>T | CA370981256 | RP1 | c.4096G>T (p.Asp1366Tyr) c.787+5690G>T (n.787+5690G>T) c.4117G>T (p.Asp1373Tyr) | |
| 8 | g.54627979A>C | CA370981257 | RP1 | c.4097A>C (p.Asp1366Ala) c.787+5691A>C (n.787+5691A>C) c.4118A>C (p.Asp1373Ala) | |
| 8 | g.54627979A>G | CA370981258 | RP1 | c.4097A>G (p.Asp1366Gly) c.787+5691A>G (n.787+5691A>G) c.4118A>G (p.Asp1373Gly) | ClinVar |
| 8 | g.54627979A>T | CA370981259 | RP1 | c.4097A>T (p.Asp1366Val) c.787+5691A>T (n.787+5691A>T) c.4118A>T (p.Asp1373Val) | |
| 8 | g.54627980del | CA2780387051 | RP1 | c.4098del (p.Asp1366GlufsTer7) c.787+5692del (n.787+5692del) c.4119del (p.Asp1373GlufsTer7) | |
| 8 | g.54627980T>A | CA370981260 | RP1 | c.4098T>A (p.Asp1366Glu) c.787+5692T>A (n.787+5692T>A) c.4119T>A (p.Asp1373Glu) | |
| 8 | g.54627980T>C | CA461099897 | RP1 | c.4098T>C (p.Asp1366=) c.787+5692T>C (n.787+5692T>C) c.4119T>C (p.Asp1373=) | |
| 8 | g.54627980T>G | CA370981261 | RP1 | c.4098T>G (p.Asp1366Glu) c.787+5692T>G (n.787+5692T>G) c.4119T>G (p.Asp1373Glu) | |
| 8 | g.54627981G>A | CA370981262 | RP1 | c.4099G>A (p.Asp1367Asn) c.787+5693G>A (n.787+5693G>A) c.4120G>A (p.Asp1374Asn) | dbSNP |
| 8 | g.54627981G>C | CA370981263 | RP1 | c.4099G>C (p.Asp1367His) c.787+5693G>C (n.787+5693G>C) c.4120G>C (p.Asp1374His) | |
| 8 | g.54627981G= | CA1785188974 | RP1 | c.4099G= (p.Asp1367=) c.787+5693G= (n.787+5693G=) c.4120G= (p.Asp1374=) | |
| 8 | g.54627981G>T | CA177181226 | RP1 | c.4099G>T (p.Asp1367Tyr) c.787+5693G>T (n.787+5693G>T) c.4120G>T (p.Asp1374Tyr) | dbSNP gnomAD v4 |
| 8 | g.54627982del | CA2687301981 | RP1 | c.4100del (p.Asp1367AlafsTer6) c.787+5694del (n.787+5694del) c.4121del (p.Asp1374AlafsTer6) | gnomAD v4 |
| 8 | g.54627982A= | CA1785188975 | RP1 | c.4100A= (p.Asp1367=) c.787+5694A= (n.787+5694A=) c.4121A= (p.Asp1374=) | |
| 8 | g.54627982A>C | CA4751800 | RP1 | c.4100A>C (p.Asp1367Ala) c.787+5694A>C (n.787+5694A>C) c.4121A>C (p.Asp1374Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627982A>G | CA370981265 | RP1 | c.4100A>G (p.Asp1367Gly) c.787+5694A>G (n.787+5694A>G) c.4121A>G (p.Asp1374Gly) | dbSNP |
| 8 | g.54627982A>T | CA370981264 | RP1 | c.4100A>T (p.Asp1367Val) c.787+5694A>T (n.787+5694A>T) c.4121A>T (p.Asp1374Val) | |
| 8 | g.54627983C>A | CA370981266 | RP1 | c.4101C>A (p.Asp1367Glu) c.787+5695C>A (n.787+5695C>A) c.4122C>A (p.Asp1374Glu) | |
| 8 | g.54627983C>G | CA370981267 | RP1 | c.4101C>G (p.Asp1367Glu) c.787+5695C>G (n.787+5695C>G) c.4122C>G (p.Asp1374Glu) | |
| 8 | g.54627983C>T | CA461099904 | RP1 | c.4101C>T (p.Asp1367=) c.787+5695C>T (n.787+5695C>T) c.4122C>T (p.Asp1374=) | |
| 8 | g.54627984A= | CA1785188976 | RP1 | c.4102A= (p.Ile1368=) c.787+5696A= (n.787+5696A=) c.4123A= (p.Ile1375=) | |
| 8 | g.54627984A>C | CA370981268 | RP1 | c.4102A>C (p.Ile1368Leu) c.787+5696A>C (n.787+5696A>C) c.4123A>C (p.Ile1375Leu) | |
| 8 | g.54627984A>G | CA177181239 | RP1 | c.4102A>G (p.Ile1368Val) c.787+5696A>G (n.787+5696A>G) c.4123A>G (p.Ile1375Val) | dbSNP gnomAD v4 |
| 8 | g.54627984A>T | CA370981269 | RP1 | c.4102A>T (p.Ile1368Phe) c.787+5696A>T (n.787+5696A>T) c.4123A>T (p.Ile1375Phe) | |
| 8 | g.54627985T>A | CA370981270 | RP1 | c.4103T>A (p.Ile1368Asn) c.787+5697T>A (n.787+5697T>A) c.4124T>A (p.Ile1375Asn) | |
| 8 | g.54627985T>C | CA370981271 | RP1 | c.4103T>C (p.Ile1368Thr) c.787+5697T>C (n.787+5697T>C) c.4124T>C (p.Ile1375Thr) | gnomAD v4 |
| 8 | g.54627985T>G | CA370981272 | RP1 | c.4103T>G (p.Ile1368Ser) c.787+5697T>G (n.787+5697T>G) c.4124T>G (p.Ile1375Ser) | |
| 8 | g.54627986T>A | CA461099906 | RP1 | c.4104T>A (p.Ile1368=) c.787+5698T>A (n.787+5698T>A) c.4125T>A (p.Ile1375=) | |
| 8 | g.54627986T>C | CA461099907 | RP1 | c.4104T>C (p.Ile1368=) c.787+5698T>C (n.787+5698T>C) c.4125T>C (p.Ile1375=) | |
| 8 | g.54627986T>G | CA370981273 | RP1 | c.4104T>G (p.Ile1368Met) c.787+5698T>G (n.787+5698T>G) c.4125T>G (p.Ile1375Met) | |
| 8 | g.54627987C>A | CA370981274 | RP1 | c.4105C>A (p.Gln1369Lys) c.787+5699C>A (n.787+5699C>A) c.4126C>A (p.Gln1376Lys) | gnomAD v4 |
| 8 | g.54627987C= | CA1785188977 | RP1 | c.4105C= (p.Gln1369=) c.787+5699C= (n.787+5699C=) c.4126C= (p.Gln1376=) | |
| 8 | g.54627987C>G | CA370981275 | RP1 | c.4105C>G (p.Gln1369Glu) c.787+5699C>G (n.787+5699C>G) c.4126C>G (p.Gln1376Glu) | gnomAD v4 |
| 8 | g.54627987C>T | CA4751801 | RP1 | c.4105C>T (p.Gln1369Ter) c.787+5699C>T (n.787+5699C>T) c.4126C>T (p.Gln1376Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627988A>C | CA370981277 | RP1 | c.4106A>C (p.Gln1369Pro) c.787+5700A>C (n.787+5700A>C) c.4127A>C (p.Gln1376Pro) | |
| 8 | g.54627988A>G | CA370981278 | RP1 | c.4106A>G (p.Gln1369Arg) c.787+5700A>G (n.787+5700A>G) c.4127A>G (p.Gln1376Arg) | |
| 8 | g.54627988A>T | CA370981276 | RP1 | c.4106A>T (p.Gln1369Leu) c.787+5700A>T (n.787+5700A>T) c.4127A>T (p.Gln1376Leu) | |
| 8 | g.54627988_54627995del | CA2518729821 | RP1 | c.4106_4113del (p.Gln1369ProfsTer8) c.787+5700_787+5707del (n.787+5700_787+5707del) c.4127_4134del (p.Gln1376ProfsTer8) | |
| 8 | g.54627989G>A | CA461099909 | RP1 | c.4107G>A (p.Gln1369=) c.787+5701G>A (n.787+5701G>A) c.4128G>A (p.Gln1376=) | |
| 8 | g.54627989G>C | CA370981279 | RP1 | c.4107G>C (p.Gln1369His) c.787+5701G>C (n.787+5701G>C) c.4128G>C (p.Gln1376His) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54627989G= | CA1785188978 | RP1 | c.4107G= (p.Gln1369=) c.787+5701G= (n.787+5701G=) c.4128G= (p.Gln1376=) | |
| 8 | g.54627989G>T | CA370981280 | RP1 | c.4107G>T (p.Gln1369His) c.787+5701G>T (n.787+5701G>T) c.4128G>T (p.Gln1376His) | gnomAD v4 |
| 8 | g.54627990A= | CA1785188979 | RP1 | c.4108A= (p.Lys1370=) c.787+5702A= (n.787+5702A=) c.4129A= (p.Lys1377=) | |
| 8 | g.54627990A>C | CA370981281 | RP1 | c.4108A>C (p.Lys1370Gln) c.787+5702A>C (n.787+5702A>C) c.4129A>C (p.Lys1377Gln) | |
| 8 | g.54627990A>G | CA4751802 | RP1 | c.4108A>G (p.Lys1370Glu) c.787+5702A>G (n.787+5702A>G) c.4129A>G (p.Lys1377Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627990A>T | CA370981282 | RP1 | c.4108A>T (p.Lys1370Ter) c.787+5702A>T (n.787+5702A>T) c.4129A>T (p.Lys1377Ter) | |
| 8 | g.54627991A= | CA1785188980 | RP1 | c.4109A= (p.Lys1370=) c.787+5703A= (n.787+5703A=) c.4130A= (p.Lys1377=) | |
| 8 | g.54627991A>C | CA370981283 | RP1 | c.4109A>C (p.Lys1370Thr) c.787+5703A>C (n.787+5703A>C) c.4130A>C (p.Lys1377Thr) | |
| 8 | g.54627991A>G | CA370981284 | RP1 | c.4109A>G (p.Lys1370Arg) c.787+5703A>G (n.787+5703A>G) c.4130A>G (p.Lys1377Arg) | gnomAD v4 |
| 8 | g.54627991A>T | CA370981285 | RP1 | c.4109A>T (p.Lys1370Ile) c.787+5703A>T (n.787+5703A>T) c.4130A>T (p.Lys1377Ile) | ClinVar dbSNP |
| 8 | g.54627992_54627994del | CA2687301982 | RP1 | c.4110_4112del (p.Lys1370_Asp1371delinsAsn) c.787+5704_787+5706del (n.787+5704_787+5706del) c.4131_4133del (p.Lys1377_Asp1378delinsAsn) | gnomAD v4 |
| 8 | g.54627992A>C | CA370981286 | RP1 | c.4110A>C (p.Lys1370Asn) c.787+5704A>C (n.787+5704A>C) c.4131A>C (p.Lys1377Asn) | |
| 8 | g.54627992A>G | CA461099911 | RP1 | c.4110A>G (p.Lys1370=) c.787+5704A>G (n.787+5704A>G) c.4131A>G (p.Lys1377=) | |
| 8 | g.54627992A>T | CA370981287 | RP1 | c.4110A>T (p.Lys1370Asn) c.787+5704A>T (n.787+5704A>T) c.4131A>T (p.Lys1377Asn) | |
| 8 | g.54627993G>A | CA370981288 | RP1 | c.4111G>A (p.Asp1371Asn) c.787+5705G>A (n.787+5705G>A) c.4132G>A (p.Asp1378Asn) | |
| 8 | g.54627993G>C | CA370981289 | RP1 | c.4111G>C (p.Asp1371His) c.787+5705G>C (n.787+5705G>C) c.4132G>C (p.Asp1378His) | COSMIC |
| 8 | g.54627993G= | CA1785188981 | RP1 | c.4111G= (p.Asp1371=) c.787+5705G= (n.787+5705G=) c.4132G= (p.Asp1378=) | |
| 8 | g.54627993G>T | CA370981290 | RP1 | c.4111G>T (p.Asp1371Tyr) c.787+5705G>T (n.787+5705G>T) c.4132G>T (p.Asp1378Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54627994A= | CA1785188982 | RP1 | c.4112A= (p.Asp1371=) c.787+5706A= (n.787+5706A=) c.4133A= (p.Asp1378=) | |
| 8 | g.54627994A>C | CA370981293 | RP1 | c.4112A>C (p.Asp1371Ala) c.787+5706A>C (n.787+5706A>C) c.4133A>C (p.Asp1378Ala) | |
| 8 | g.54627994A>G | CA370981292 | RP1 | c.4112A>G (p.Asp1371Gly) c.787+5706A>G (n.787+5706A>G) c.4133A>G (p.Asp1378Gly) | |
| 8 | g.54627994A>T | CA370981291 | RP1 | c.4112A>T (p.Asp1371Val) c.787+5706A>T (n.787+5706A>T) c.4133A>T (p.Asp1378Val) | ClinVar dbSNP |
| 8 | g.54627995T>A | CA370981294 | RP1 | c.4113T>A (p.Asp1371Glu) c.787+5707T>A (n.787+5707T>A) c.4134T>A (p.Asp1378Glu) | |
| 8 | g.54627995T>C | CA461099912 | RP1 | c.4113T>C (p.Asp1371=) c.787+5707T>C (n.787+5707T>C) c.4134T>C (p.Asp1378=) | |
| 8 | g.54627995T>G | CA370981295 | RP1 | c.4113T>G (p.Asp1371Glu) c.787+5707T>G (n.787+5707T>G) c.4134T>G (p.Asp1378Glu) | |
| 8 | g.54627996C>A | CA370981296 | RP1 | c.4114C>A (p.Leu1372Ile) c.787+5708C>A (n.787+5708C>A) c.4135C>A (p.Leu1379Ile) | |
| 8 | g.54627996C>G | CA370981297 | RP1 | c.4114C>G (p.Leu1372Val) c.787+5708C>G (n.787+5708C>G) c.4135C>G (p.Leu1379Val) | |
| 8 | g.54627996C>T | CA461099918 | RP1 | c.4114C>T (p.Leu1372=) c.787+5708C>T (n.787+5708C>T) c.4135C>T (p.Leu1379=) | |
| 8 | g.54627997T>A | CA370981298 | RP1 | c.4115T>A (p.Leu1372Gln) c.787+5709T>A (n.787+5709T>A) c.4136T>A (p.Leu1379Gln) | |
| 8 | g.54627997T>C | CA370981299 | RP1 | c.4115T>C (p.Leu1372Pro) c.787+5709T>C (n.787+5709T>C) c.4136T>C (p.Leu1379Pro) | |
| 8 | g.54627997T>G | CA370981300 | RP1 | c.4115T>G (p.Leu1372Arg) c.787+5709T>G (n.787+5709T>G) c.4136T>G (p.Leu1379Arg) | |
| 8 | g.54627998A>C | CA461099921 | RP1 | c.4116A>C (p.Leu1372=) c.787+5710A>C (n.787+5710A>C) c.4137A>C (p.Leu1379=) | |
| 8 | g.54627998A>G | CA461099922 | RP1 | c.4116A>G (p.Leu1372=) c.787+5710A>G (n.787+5710A>G) c.4137A>G (p.Leu1379=) | |
| 8 | g.54627998A>T | CA461099923 | RP1 | c.4116A>T (p.Leu1372=) c.787+5710A>T (n.787+5710A>T) c.4137A>T (p.Leu1379=) | |
| 8 | g.54627999A>C | CA370981301 | RP1 | c.4117A>C (p.Asn1373His) c.787+5711A>C (n.787+5711A>C) c.4138A>C (p.Asn1380His) | |
| 8 | g.54627999A>G | CA370981302 | RP1 | c.4117A>G (p.Asn1373Asp) c.787+5711A>G (n.787+5711A>G) c.4138A>G (p.Asn1380Asp) | |
| 8 | g.54627999A>T | CA370981303 | RP1 | c.4117A>T (p.Asn1373Tyr) c.787+5711A>T (n.787+5711A>T) c.4138A>T (p.Asn1380Tyr) | |
| 8 | g.54628000A>C | CA370981304 | RP1 | c.4118A>C (p.Asn1373Thr) c.787+5712A>C (n.787+5712A>C) c.4139A>C (p.Asn1380Thr) | |
| 8 | g.54628000A>G | CA370981305 | RP1 | c.4118A>G (p.Asn1373Ser) c.787+5712A>G (n.787+5712A>G) c.4139A>G (p.Asn1380Ser) | |
| 8 | g.54628000A>T | CA370981306 | RP1 | c.4118A>T (p.Asn1373Ile) c.787+5712A>T (n.787+5712A>T) c.4139A>T (p.Asn1380Ile) | |
| 8 | g.54628001T>A | CA370981308 | RP1 | c.4119T>A (p.Asn1373Lys) c.787+5713T>A (n.787+5713T>A) c.4140T>A (p.Asn1380Lys) | |
| 8 | g.54628001T>C | CA461099925 | RP1 | c.4119T>C (p.Asn1373=) c.787+5713T>C (n.787+5713T>C) c.4140T>C (p.Asn1380=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54628001T>G | CA370981307 | RP1 | c.4119T>G (p.Asn1373Lys) c.787+5713T>G (n.787+5713T>G) c.4140T>G (p.Asn1380Lys) | |
| 8 | g.54628001T= | CA1785188983 | RP1 | c.4119T= (p.Asn1373=) c.787+5713T= (n.787+5713T=) c.4140T= (p.Asn1380=) | |
| 8 | g.54628002A>C | CA370981309 | RP1 | c.4120A>C (p.Ile1374Leu) c.787+5714A>C (n.787+5714A>C) c.4141A>C (p.Ile1381Leu) | |
| 8 | g.54628002A>G | CA370981311 | RP1 | c.4120A>G (p.Ile1374Val) c.787+5714A>G (n.787+5714A>G) c.4141A>G (p.Ile1381Val) | |
| 8 | g.54628002A>T | CA370981310 | RP1 | c.4120A>T (p.Ile1374Phe) c.787+5714A>T (n.787+5714A>T) c.4141A>T (p.Ile1381Phe) | gnomAD v4 |
| 8 | g.54628003T>A | CA370981312 | RP1 | c.4121T>A (p.Ile1374Asn) c.787+5715T>A (n.787+5715T>A) c.4142T>A (p.Ile1381Asn) | |
| 8 | g.54628003T>C | CA370981313 | RP1 | c.4121T>C (p.Ile1374Thr) c.787+5715T>C (n.787+5715T>C) c.4142T>C (p.Ile1381Thr) | |
| 8 | g.54628003T>G | CA370981314 | RP1 | c.4121T>G (p.Ile1374Ser) c.787+5715T>G (n.787+5715T>G) c.4142T>G (p.Ile1381Ser) | |
| 8 | g.54628003_54628014del | CA2524358896 | RP1 | c.4121_4132del (p.Ile1374_Pro1378delinsThr) c.787+5715_787+5726del (n.787+5715_787+5726del) c.4142_4153del (p.Ile1381_Pro1385delinsThr) | |
| 8 | g.54628004T>A | CA461099926 | RP1 | c.4122T>A (p.Ile1374=) c.787+5716T>A (n.787+5716T>A) c.4143T>A (p.Ile1381=) | dbSNP |
| 8 | g.54628004T>C | CA461099928 | RP1 | c.4122T>C (p.Ile1374=) c.787+5716T>C (n.787+5716T>C) c.4143T>C (p.Ile1381=) | |
| 8 | g.54628004T>G | CA370981315 | RP1 | c.4122T>G (p.Ile1374Met) c.787+5716T>G (n.787+5716T>G) c.4143T>G (p.Ile1381Met) | |
| 8 | g.54628005T>A | CA370981316 | RP1 | c.4123T>A (p.Leu1375Met) c.787+5717T>A (n.787+5717T>A) c.4144T>A (p.Leu1382Met) | |
| 8 | g.54628005T>C | CA461099932 | RP1 | c.4123T>C (p.Leu1375=) c.787+5717T>C (n.787+5717T>C) c.4144T>C (p.Leu1382=) | |
| 8 | g.54628005T>G | CA370981317 | RP1 | c.4123T>G (p.Leu1375Val) c.787+5717T>G (n.787+5717T>G) c.4144T>G (p.Leu1382Val) | |
| 8 | g.54628006T>A | CA370981318 | RP1 | c.4124T>A (p.Leu1375Ter) c.787+5718T>A (n.787+5718T>A) c.4145T>A (p.Leu1382Ter) | |
| 8 | g.54628006T>C | CA370981319 | RP1 | c.4124T>C (p.Leu1375Ser) c.787+5718T>C (n.787+5718T>C) c.4145T>C (p.Leu1382Ser) | |
| 8 | g.54628006T>G | CA370981320 | RP1 | c.4124T>G (p.Leu1375Trp) c.787+5718T>G (n.787+5718T>G) c.4145T>G (p.Leu1382Trp) | |
| 8 | g.54628007G>A | CA461099936 | RP1 | c.4125G>A (p.Leu1375=) c.787+5719G>A (n.787+5719G>A) c.4146G>A (p.Leu1382=) | |
| 8 | g.54628007G>C | CA370981321 | RP1 | c.4125G>C (p.Leu1375Phe) c.787+5719G>C (n.787+5719G>C) c.4146G>C (p.Leu1382Phe) | |
| 8 | g.54628007G>T | CA370981322 | RP1 | c.4125G>T (p.Leu1375Phe) c.787+5719G>T (n.787+5719G>T) c.4146G>T (p.Leu1382Phe) | COSMIC |
| 8 | g.54628008A>C | CA370981325 | RP1 | c.4126A>C (p.Thr1376Pro) c.787+5720A>C (n.787+5720A>C) c.4147A>C (p.Thr1383Pro) | |
| 8 | g.54628008A>G | CA370981324 | RP1 | c.4126A>G (p.Thr1376Ala) c.787+5720A>G (n.787+5720A>G) c.4147A>G (p.Thr1383Ala) | |
| 8 | g.54628008A>T | CA370981323 | RP1 | c.4126A>T (p.Thr1376Ser) c.787+5720A>T (n.787+5720A>T) c.4147A>T (p.Thr1383Ser) | |
| 8 | g.54628009C>A | CA370981326 | RP1 | c.4127C>A (p.Thr1376Lys) c.787+5721C>A (n.787+5721C>A) c.4148C>A (p.Thr1383Lys) | |
| 8 | g.54628009C>G | CA370981327 | RP1 | c.4127C>G (p.Thr1376Arg) c.787+5721C>G (n.787+5721C>G) c.4148C>G (p.Thr1383Arg) | |
| 8 | g.54628009C>T | CA370981328 | RP1 | c.4127C>T (p.Thr1376Ile) c.787+5721C>T (n.787+5721C>T) c.4148C>T (p.Thr1383Ile) | |
| 8 | g.54628010A>C | CA461099941 | RP1 | c.4128A>C (p.Thr1376=) c.787+5722A>C (n.787+5722A>C) c.4149A>C (p.Thr1383=) | |
| 8 | g.54628010A>G | CA461099942 | RP1 | c.4128A>G (p.Thr1376=) c.787+5722A>G (n.787+5722A>G) c.4149A>G (p.Thr1383=) | |
| 8 | g.54628010A>T | CA461099939 | RP1 | c.4128A>T (p.Thr1376=) c.787+5722A>T (n.787+5722A>T) c.4149A>T (p.Thr1383=) | |
| 8 | g.54628011del | CA2695209305 | RP1 | c.4129del (p.Asp1377ThrfsTer20) c.787+5723del (n.787+5723del) c.4150del (p.Asp1384ThrfsTer20) | |
| 8 | g.54628011G>A | CA370981329 | RP1 | c.4129G>A (p.Asp1377Asn) c.787+5723G>A (n.787+5723G>A) c.4150G>A (p.Asp1384Asn) | |
| 8 | g.54628011G>C | CA370981330 | RP1 | c.4129G>C (p.Asp1377His) c.787+5723G>C (n.787+5723G>C) c.4150G>C (p.Asp1384His) | |
| 8 | g.54628011G>T | CA370981331 | RP1 | c.4129G>T (p.Asp1377Tyr) c.787+5723G>T (n.787+5723G>T) c.4150G>T (p.Asp1384Tyr) | |
| 8 | g.54628012A= | CA1785188984 | RP1 | c.4130A= (p.Asp1377=) c.787+5724A= (n.787+5724A=) c.4151A= (p.Asp1384=) | |
| 8 | g.54628012A>C | CA370981332 | RP1 | c.4130A>C (p.Asp1377Ala) c.787+5724A>C (n.787+5724A>C) c.4151A>C (p.Asp1384Ala) | |
| 8 | g.54628012A>G | CA370981333 | RP1 | c.4130A>G (p.Asp1377Gly) c.787+5724A>G (n.787+5724A>G) c.4151A>G (p.Asp1384Gly) | ClinVar dbSNP |
| 8 | g.54628012A>T | CA370981334 | RP1 | c.4130A>T (p.Asp1377Val) c.787+5724A>T (n.787+5724A>T) c.4151A>T (p.Asp1384Val) | |
| 8 | g.54628012_54628015delinsACCC | CA1785188985 | RP1 | c.4130_4133delinsACCC (p.Asp1377=) c.787+5724_787+5727delinsACCC (n.787+5724_787+5727delinsACCC) c.4151_4154delinsACCC (p.Asp1384=) | |
| 8 | g.54628013C>A | CA370981335 | RP1 | c.4131C>A (p.Asp1377Glu) c.787+5725C>A (n.787+5725C>A) c.4152C>A (p.Asp1384Glu) | gnomAD v4 |
| 8 | g.54628013C= | CA1785188986 | RP1 | c.4131C= (p.Asp1377=) c.787+5725C= (n.787+5725C=) c.4152C= (p.Asp1384=) | |
| 8 | g.54628013C>G | CA4751804 | RP1 | c.4131C>G (p.Asp1377Glu) c.787+5725C>G (n.787+5725C>G) c.4152C>G (p.Asp1384Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628013C>T | CA4751803 | RP1 | c.4131C>T (p.Asp1377=) c.787+5725C>T (n.787+5725C>T) c.4152C>T (p.Asp1384=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628013_54628015del | CA582097044 | RP1 | c.4131_4133del (p.Pro1378del) c.787+5725_787+5727del (n.787+5725_787+5727del) c.4152_4154del (p.Pro1385del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628014C>A | CA370981336 | RP1 | c.4132C>A (p.Pro1378Thr) c.787+5726C>A (n.787+5726C>A) c.4153C>A (p.Pro1385Thr) | |
| 8 | g.54628014C= | CA1785188987 | RP1 | c.4132C= (p.Pro1378=) c.787+5726C= (n.787+5726C=) c.4153C= (p.Pro1385=) | |
| 8 | g.54628014C>G | CA370981337 | RP1 | c.4132C>G (p.Pro1378Ala) c.787+5726C>G (n.787+5726C>G) c.4153C>G (p.Pro1385Ala) | gnomAD v4 |
| 8 | g.54628014C>T | CA4751805 | RP1 | c.4132C>T (p.Pro1378Ser) c.787+5726C>T (n.787+5726C>T) c.4153C>T (p.Pro1385Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628015C>A | CA370981338 | RP1 | c.4133C>A (p.Pro1378His) c.787+5727C>A (n.787+5727C>A) c.4154C>A (p.Pro1385His) | COSMIC |
| 8 | g.54628015C>G | CA370981339 | RP1 | c.4133C>G (p.Pro1378Arg) c.787+5727C>G (n.787+5727C>G) c.4154C>G (p.Pro1385Arg) | |
| 8 | g.54628015C>T | CA370981340 | RP1 | c.4133C>T (p.Pro1378Leu) c.787+5727C>T (n.787+5727C>T) c.4154C>T (p.Pro1385Leu) | ClinVar |
| 8 | g.54628016T>A | CA461099953 | RP1 | c.4134T>A (p.Pro1378=) c.787+5728T>A (n.787+5728T>A) c.4155T>A (p.Pro1385=) | |
| 8 | g.54628016T>C | CA461099954 | RP1 | c.4134T>C (p.Pro1378=) c.787+5728T>C (n.787+5728T>C) c.4155T>C (p.Pro1385=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628016T>G | CA461099956 | RP1 | c.4134T>G (p.Pro1378=) c.787+5728T>G (n.787+5728T>G) c.4155T>G (p.Pro1385=) | |
| 8 | g.54628016T= | CA1785188988 | RP1 | c.4134T= (p.Pro1378=) c.787+5728T= (n.787+5728T=) c.4155T= (p.Pro1385=) | |
| 8 | g.54628017del | CA2566860166 | RP1 | c.4135del (p.Glu1379AsnfsTer18) c.787+5729del (n.787+5729del) c.4156del (p.Glu1386AsnfsTer18) | |
| 8 | g.54628017G>A | CA370981341 | RP1 | c.4135G>A (p.Glu1379Lys) c.787+5729G>A (n.787+5729G>A) c.4156G>A (p.Glu1386Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54628017G>C | CA370981342 | RP1 | c.4135G>C (p.Glu1379Gln) c.787+5729G>C (n.787+5729G>C) c.4156G>C (p.Glu1386Gln) | |
| 8 | g.54628017G= | CA1785188989 | RP1 | c.4135G= (p.Glu1379=) c.787+5729G= (n.787+5729G=) c.4156G= (p.Glu1386=) | |
| 8 | g.54628017G>T | CA370981343 | RP1 | c.4135G>T (p.Glu1379Ter) c.787+5729G>T (n.787+5729G>T) c.4156G>T (p.Glu1386Ter) | |
| 8 | g.54628018A= | CA1785188990 | RP1 | c.4136A= (p.Glu1379=) c.787+5730A= (n.787+5730A=) c.4157A= (p.Glu1386=) | |
| 8 | g.54628018A>C | CA4751806 | RP1 | c.4136A>C (p.Glu1379Ala) c.787+5730A>C (n.787+5730A>C) c.4157A>C (p.Glu1386Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628018A>G | CA370981344 | RP1 | c.4136A>G (p.Glu1379Gly) c.787+5730A>G (n.787+5730A>G) c.4157A>G (p.Glu1386Gly) | |
| 8 | g.54628018A>T | CA370981345 | RP1 | c.4136A>T (p.Glu1379Val) c.787+5730A>T (n.787+5730A>T) c.4157A>T (p.Glu1386Val) | |
| 8 | g.54628019A= | CA1785188991 | RP1 | c.4137A= (p.Glu1379=) c.787+5731A= (n.787+5731A=) c.4158A= (p.Glu1386=) | |
| 8 | g.54628019A>C | CA370981346 | RP1 | c.4137A>C (p.Glu1379Asp) c.787+5731A>C (n.787+5731A>C) c.4158A>C (p.Glu1386Asp) | |
| 8 | g.54628019A>G | CA461099960 | RP1 | c.4137A>G (p.Glu1379=) c.787+5731A>G (n.787+5731A>G) c.4158A>G (p.Glu1386=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54628019A>T | CA370981347 | RP1 | c.4137A>T (p.Glu1379Asp) c.787+5731A>T (n.787+5731A>T) c.4158A>T (p.Glu1386Asp) | |
| 8 | g.54628020T>A | CA370981348 | RP1 | c.4138T>A (p.Tyr1380Asn) c.787+5732T>A (n.787+5732T>A) c.4159T>A (p.Tyr1387Asn) | |
| 8 | g.54628020T>C | CA370981349 | RP1 | c.4138T>C (p.Tyr1380His) c.787+5732T>C (n.787+5732T>C) c.4159T>C (p.Tyr1387His) | |
| 8 | g.54628020T>G | CA370981350 | RP1 | c.4138T>G (p.Tyr1380Asp) c.787+5732T>G (n.787+5732T>G) c.4159T>G (p.Tyr1387Asp) | |
| 8 | g.54628020_54628039delinsTATAAAAATGGATTTAATAC | CA1785188992 | RP1 | c.4138_4157delinsTATAAAAATGGATTTAATAC (p.Tyr1380=) c.787+5732_787+5751delinsTATAAAAATGGATTTAATAC (n.787+5732_787+5751delinsTATAAAAATGGATTTAATAC) c.4159_4178delinsTATAAAAATGGATTTAATAC (p.Tyr1387=) | |
| 8 | g.54628021del | CA2523609323 | RP1 | c.4139del (p.Tyr1380LeufsTer17) c.787+5733del (n.787+5733del) c.4160del (p.Tyr1387LeufsTer17) | |
| 8 | g.54628021A= | CA1785188994 | RP1 | c.4139A= (p.Tyr1380=) c.787+5733A= (n.787+5733A=) c.4160A= (p.Tyr1387=) | |
| 8 | g.54628021A>C | CA370981351 | RP1 | c.4139A>C (p.Tyr1380Ser) c.787+5733A>C (n.787+5733A>C) c.4160A>C (p.Tyr1387Ser) | |
| 8 | g.54628021A>G | CA370981353 | RP1 | c.4139A>G (p.Tyr1380Cys) c.787+5733A>G (n.787+5733A>G) c.4160A>G (p.Tyr1387Cys) | dbSNP gnomAD v4 |
| 8 | g.54628021A>T | CA370981352 | RP1 | c.4139A>T (p.Tyr1380Phe) c.787+5733A>T (n.787+5733A>T) c.4160A>T (p.Tyr1387Phe) | COSMIC |
| 8 | g.54628023_54628041del | CA1785188993 | RP1 | c.4141_4159del (p.Lys1381TrpfsTer10) c.787+5735_787+5753del (n.787+5735_787+5753del) c.4162_4180del (p.Lys1388TrpfsTer10) | dbSNP gnomAD v4 |
| 8 | g.54628022T>A | CA370981354 | RP1 | c.4140T>A (p.Tyr1380Ter) c.787+5734T>A (n.787+5734T>A) c.4161T>A (p.Tyr1387Ter) | |
| 8 | g.54628022T>C | CA461099964 | RP1 | c.4140T>C (p.Tyr1380=) c.787+5734T>C (n.787+5734T>C) c.4161T>C (p.Tyr1387=) | ClinVar dbSNP |
| 8 | g.54628022T>G | CA370981355 | RP1 | c.4140T>G (p.Tyr1380Ter) c.787+5734T>G (n.787+5734T>G) c.4161T>G (p.Tyr1387Ter) | |
| 8 | g.54628022T= | CA1785188995 | RP1 | c.4140T= (p.Tyr1380=) c.787+5734T= (n.787+5734T=) c.4161T= (p.Tyr1387=) | |
| 8 | g.54628023A= | CA1785188996 | RP1 | c.4141A= (p.Lys1381=) c.787+5735A= (n.787+5735A=) c.4162A= (p.Lys1388=) | |
| 8 | g.54628023A>C | CA370981356 | RP1 | c.4141A>C (p.Lys1381Gln) c.787+5735A>C (n.787+5735A>C) c.4162A>C (p.Lys1388Gln) | COSMIC |
| 8 | g.54628023A>G | CA177181299 | RP1 | c.4141A>G (p.Lys1381Glu) c.787+5735A>G (n.787+5735A>G) c.4162A>G (p.Lys1388Glu) | dbSNP gnomAD v4 |
| 8 | g.54628023A>T | CA370981357 | RP1 | c.4141A>T (p.Lys1381Ter) c.787+5735A>T (n.787+5735A>T) c.4162A>T (p.Lys1388Ter) | |
| 8 | g.54628024A= | CA1785188997 | RP1 | c.4142A= (p.Lys1381=) c.787+5736A= (n.787+5736A=) c.4163A= (p.Lys1388=) | |
| 8 | g.54628024A>C | CA370981358 | RP1 | c.4142A>C (p.Lys1381Thr) c.787+5736A>C (n.787+5736A>C) c.4163A>C (p.Lys1388Thr) | dbSNP |
| 8 | g.54628024A>G | CA370981359 | RP1 | c.4142A>G (p.Lys1381Arg) c.787+5736A>G (n.787+5736A>G) c.4163A>G (p.Lys1388Arg) | |
| 8 | g.54628024A>T | CA370981360 | RP1 | c.4142A>T (p.Lys1381Ile) c.787+5736A>T (n.787+5736A>T) c.4163A>T (p.Lys1388Ile) | |
| 8 | g.54628025A>C | CA370981361 | RP1 | c.4143A>C (p.Lys1381Asn) c.787+5737A>C (n.787+5737A>C) c.4164A>C (p.Lys1388Asn) | gnomAD v4 |
| 8 | g.54628025A>G | CA461099967 | RP1 | c.4143A>G (p.Lys1381=) c.787+5737A>G (n.787+5737A>G) c.4164A>G (p.Lys1388=) | |
| 8 | g.54628025A>T | CA370981362 | RP1 | c.4143A>T (p.Lys1381Asn) c.787+5737A>T (n.787+5737A>T) c.4164A>T (p.Lys1388Asn) | |
| 8 | g.54628026A>C | CA370981363 | RP1 | c.4144A>C (p.Asn1382His) c.787+5738A>C (n.787+5738A>C) c.4165A>C (p.Asn1389His) | COSMIC |
| 8 | g.54628026A>G | CA370981364 | RP1 | c.4144A>G (p.Asn1382Asp) c.787+5738A>G (n.787+5738A>G) c.4165A>G (p.Asn1389Asp) | |
| 8 | g.54628026A>T | CA370981365 | RP1 | c.4144A>T (p.Asn1382Tyr) c.787+5738A>T (n.787+5738A>T) c.4165A>T (p.Asn1389Tyr) | |
| 8 | g.54628026_54628027insC | CA2520510708 | RP1 | c.4144_4145insC (p.Asn1382ThrfsTer4) c.787+5738_787+5739insC (n.787+5738_787+5739insC) c.4165_4166insC (p.Asn1389ThrfsTer4) | |
| 8 | g.54628027A>C | CA370981367 | RP1 | c.4145A>C (p.Asn1382Thr) c.787+5739A>C (n.787+5739A>C) c.4166A>C (p.Asn1389Thr) | |
| 8 | g.54628027A>G | CA370981368 | RP1 | c.4145A>G (p.Asn1382Ser) c.787+5739A>G (n.787+5739A>G) c.4166A>G (p.Asn1389Ser) | |
| 8 | g.54628027A>T | CA370981366 | RP1 | c.4145A>T (p.Asn1382Ile) c.787+5739A>T (n.787+5739A>T) c.4166A>T (p.Asn1389Ile) | |
| 8 | g.54628027_54628032delinsATGGAT | CA1785188998 | RP1 | c.4145_4150delinsATGGAT (p.Asn1382=) c.787+5739_787+5744delinsATGGAT (n.787+5739_787+5744delinsATGGAT) c.4166_4171delinsATGGAT (p.Asn1389=) | |
| 8 | g.54628028T>A | CA370981370 | RP1 | c.4146T>A (p.Asn1382Lys) c.787+5740T>A (n.787+5740T>A) c.4167T>A (p.Asn1389Lys) | |
| 8 | g.54628028T>C | CA461099731 | RP1 | c.4146T>C (p.Asn1382=) c.787+5740T>C (n.787+5740T>C) c.4167T>C (p.Asn1389=) | |
| 8 | g.54628028T>G | CA370981369 | RP1 | c.4146T>G (p.Asn1382Lys) c.787+5740T>G (n.787+5740T>G) c.4167T>G (p.Asn1389Lys) | |
| 8 | g.54628029_54628033del | CA582159200 | RP1 | c.4147_4151del (p.Gly1383Ter) c.787+5741_787+5745del (n.787+5741_787+5745del) c.4168_4172del (p.Gly1390Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628029G>A | CA370981372 | RP1 | c.4147G>A (p.Gly1383Arg) c.787+5741G>A (n.787+5741G>A) c.4168G>A (p.Gly1390Arg) | gnomAD v4 |
| 8 | g.54628029G>C | CA370981371 | RP1 | c.4147G>C (p.Gly1383Arg) c.787+5741G>C (n.787+5741G>C) c.4168G>C (p.Gly1390Arg) | |
| 8 | g.54628029G>T | CA370981373 | RP1 | c.4147G>T (p.Gly1383Ter) c.787+5741G>T (n.787+5741G>T) c.4168G>T (p.Gly1390Ter) | |
| 8 | g.54628030G>A | CA370981374 | RP1 | c.4148G>A (p.Gly1383Glu) c.787+5742G>A (n.787+5742G>A) c.4169G>A (p.Gly1390Glu) | gnomAD v4 |
| 8 | g.54628030G>C | CA370981376 | RP1 | c.4148G>C (p.Gly1383Ala) c.787+5742G>C (n.787+5742G>C) c.4169G>C (p.Gly1390Ala) | |
| 8 | g.54628030G= | CA1785188999 | RP1 | c.4148G= (p.Gly1383=) c.787+5742G= (n.787+5742G=) c.4169G= (p.Gly1390=) | |
| 8 | g.54628030G>T | CA370981375 | RP1 | c.4148G>T (p.Gly1383Val) c.787+5742G>T (n.787+5742G>T) c.4169G>T (p.Gly1390Val) | dbSNP COSMIC |
| 8 | g.54628030_54628031del | CA2550508963 | RP1 | c.4148_4149del (p.Gly1383ValfsTer2) c.787+5742_787+5743del (n.787+5742_787+5743del) c.4169_4170del (p.Gly1390ValfsTer2) | |
| 8 | g.54628031A= | CA1785189000 | RP1 | c.4149A= (p.Gly1383=) c.787+5743A= (n.787+5743A=) c.4170A= (p.Gly1390=) | |
| 8 | g.54628031A>C | CA461099734 | RP1 | c.4149A>C (p.Gly1383=) c.787+5743A>C (n.787+5743A>C) c.4170A>C (p.Gly1390=) | |
| 8 | g.54628031A>G | CA461099735 | RP1 | c.4149A>G (p.Gly1383=) c.787+5743A>G (n.787+5743A>G) c.4170A>G (p.Gly1390=) | |
| 8 | g.54628031A>T | CA4751807 | RP1 | c.4149A>T (p.Gly1383=) c.787+5743A>T (n.787+5743A>T) c.4170A>T (p.Gly1390=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628032T>A | CA370981377 | RP1 | c.4150T>A (p.Phe1384Ile) c.787+5744T>A (n.787+5744T>A) c.4171T>A (p.Phe1391Ile) | |
| 8 | g.54628032T>C | CA370981378 | RP1 | c.4150T>C (p.Phe1384Leu) c.787+5744T>C (n.787+5744T>C) c.4171T>C (p.Phe1391Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628032T>G | CA370981379 | RP1 | c.4150T>G (p.Phe1384Val) c.787+5744T>G (n.787+5744T>G) c.4171T>G (p.Phe1391Val) | |
| 8 | g.54628032T= | CA1785189001 | RP1 | c.4150T= (p.Phe1384=) c.787+5744T= (n.787+5744T=) c.4171T= (p.Phe1391=) | |
| 8 | g.54628033T>A | CA370981380 | RP1 | c.4151T>A (p.Phe1384Tyr) c.787+5745T>A (n.787+5745T>A) c.4172T>A (p.Phe1391Tyr) | |
| 8 | g.54628033T>C | CA370981381 | RP1 | c.4151T>C (p.Phe1384Ser) c.787+5745T>C (n.787+5745T>C) c.4172T>C (p.Phe1391Ser) | |
| 8 | g.54628033T>G | CA177181338 | RP1 | c.4151T>G (p.Phe1384Cys) c.787+5745T>G (n.787+5745T>G) c.4172T>G (p.Phe1391Cys) | dbSNP COSMIC |
| 8 | g.54628033T= | CA1785189002 | RP1 | c.4151T= (p.Phe1384=) c.787+5745T= (n.787+5745T=) c.4172T= (p.Phe1391=) | |
| 8 | g.54628034T>A | CA370981382 | RP1 | c.4152T>A (p.Phe1384Leu) c.787+5746T>A (n.787+5746T>A) c.4173T>A (p.Phe1391Leu) | |
| 8 | g.54628034T>C | CA461099739 | RP1 | c.4152T>C (p.Phe1384=) c.787+5746T>C (n.787+5746T>C) c.4173T>C (p.Phe1391=) | |
| 8 | g.54628034T>G | CA370981383 | RP1 | c.4152T>G (p.Phe1384Leu) c.787+5746T>G (n.787+5746T>G) c.4173T>G (p.Phe1391Leu) | |
| 8 | g.54628035A= | CA1785189003 | RP1 | c.4153A= (p.Asn1385=) c.787+5747A= (n.787+5747A=) c.4174A= (p.Asn1392=) | |
| 8 | g.54628035A>C | CA370981385 | RP1 | c.4153A>C (p.Asn1385His) c.787+5747A>C (n.787+5747A>C) c.4174A>C (p.Asn1392His) | dbSNP |
| 8 | g.54628035A>G | CA370981387 | RP1 | c.4153A>G (p.Asn1385Asp) c.787+5747A>G (n.787+5747A>G) c.4174A>G (p.Asn1392Asp) | |
| 8 | g.54628035A>T | CA370981389 | RP1 | c.4153A>T (p.Asn1385Tyr) c.787+5747A>T (n.787+5747A>T) c.4174A>T (p.Asn1392Tyr) | |
| 8 | g.54628036A>C | CA370981395 | RP1 | c.4154A>C (p.Asn1385Thr) c.787+5748A>C (n.787+5748A>C) c.4175A>C (p.Asn1392Thr) | |
| 8 | g.54628036A>G | CA370981392 | RP1 | c.4154A>G (p.Asn1385Ser) c.787+5748A>G (n.787+5748A>G) c.4175A>G (p.Asn1392Ser) | |
| 8 | g.54628036A>T | CA370981393 | RP1 | c.4154A>T (p.Asn1385Ile) c.787+5748A>T (n.787+5748A>T) c.4175A>T (p.Asn1392Ile) | |
| 8 | g.54628037T>A | CA370981397 | RP1 | c.4155T>A (p.Asn1385Lys) c.787+5749T>A (n.787+5749T>A) c.4176T>A (p.Asn1392Lys) | |
| 8 | g.54628037T>C | CA461099743 | RP1 | c.4155T>C (p.Asn1385=) c.787+5749T>C (n.787+5749T>C) c.4176T>C (p.Asn1392=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628037T>G | CA370981399 | RP1 | c.4155T>G (p.Asn1385Lys) c.787+5749T>G (n.787+5749T>G) c.4176T>G (p.Asn1392Lys) | |
| 8 | g.54628037T= | CA1785189004 | RP1 | c.4155T= (p.Asn1385=) c.787+5749T= (n.787+5749T=) c.4176T= (p.Asn1392=) | |
| 8 | g.54628038A>C | CA370981402 | RP1 | c.4156A>C (p.Thr1386Pro) c.787+5750A>C (n.787+5750A>C) c.4177A>C (p.Thr1393Pro) | |
| 8 | g.54628038A>G | CA370981403 | RP1 | c.4156A>G (p.Thr1386Ala) c.787+5750A>G (n.787+5750A>G) c.4177A>G (p.Thr1393Ala) | |
| 8 | g.54628038A>T | CA370981405 | RP1 | c.4156A>T (p.Thr1386Ser) c.787+5750A>T (n.787+5750A>T) c.4177A>T (p.Thr1393Ser) | |
| 8 | g.54628039C>A | CA370981409 | RP1 | c.4157C>A (p.Thr1386Lys) c.787+5751C>A (n.787+5751C>A) c.4178C>A (p.Thr1393Lys) | |
| 8 | g.54628039C= | CA1785189005 | RP1 | c.4157C= (p.Thr1386=) c.787+5751C= (n.787+5751C=) c.4178C= (p.Thr1393=) | |
| 8 | g.54628039C>G | CA370981411 | RP1 | c.4157C>G (p.Thr1386Arg) c.787+5751C>G (n.787+5751C>G) c.4178C>G (p.Thr1393Arg) | |
| 8 | g.54628039C>T | CA4751808 | RP1 | c.4157C>T (p.Thr1386Ile) c.787+5751C>T (n.787+5751C>T) c.4178C>T (p.Thr1393Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628040A>C | CA461099748 | RP1 | c.4158A>C (p.Thr1386=) c.787+5752A>C (n.787+5752A>C) c.4179A>C (p.Thr1393=) | |
| 8 | g.54628040A>G | CA461099749 | RP1 | c.4158A>G (p.Thr1386=) c.787+5752A>G (n.787+5752A>G) c.4179A>G (p.Thr1393=) | ClinVar gnomAD v4 |
| 8 | g.54628040A>T | CA461099750 | RP1 | c.4158A>T (p.Thr1386=) c.787+5752A>T (n.787+5752A>T) c.4179A>T (p.Thr1393=) | |
| 8 | g.54628041T>A | CA370981414 | RP1 | c.4159T>A (p.Leu1387Met) c.787+5753T>A (n.787+5753T>A) c.4180T>A (p.Leu1394Met) | |
| 8 | g.54628041T>C | CA461099753 | RP1 | c.4159T>C (p.Leu1387=) c.787+5753T>C (n.787+5753T>C) c.4180T>C (p.Leu1394=) | dbSNP gnomAD v4 |
| 8 | g.54628041T>G | CA370981416 | RP1 | c.4159T>G (p.Leu1387Val) c.787+5753T>G (n.787+5753T>G) c.4180T>G (p.Leu1394Val) | |
| 8 | g.54628041T= | CA1785189006 | RP1 | c.4159T= (p.Leu1387=) c.787+5753T= (n.787+5753T=) c.4180T= (p.Leu1394=) | |
| 8 | g.54628042T>A | CA370981423 | RP1 | c.4160T>A (p.Leu1387Ter) c.787+5754T>A (n.787+5754T>A) c.4181T>A (p.Leu1394Ter) | gnomAD v4 |
| 8 | g.54628042T>C | CA370981421 | RP1 | c.4160T>C (p.Leu1387Ser) c.787+5754T>C (n.787+5754T>C) c.4181T>C (p.Leu1394Ser) | |
| 8 | g.54628042T>G | CA370981419 | RP1 | c.4160T>G (p.Leu1387Trp) c.787+5754T>G (n.787+5754T>G) c.4181T>G (p.Leu1394Trp) | gnomAD v4 |
| 8 | g.54628043G>A | CA4751809 | RP1 | c.4161G>A (p.Leu1387=) c.787+5755G>A (n.787+5755G>A) c.4182G>A (p.Leu1394=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628043G>C | CA370981428 | RP1 | c.4161G>C (p.Leu1387Phe) c.787+5755G>C (n.787+5755G>C) c.4182G>C (p.Leu1394Phe) | gnomAD v4 |
| 8 | g.54628043G= | CA1785189007 | RP1 | c.4161G= (p.Leu1387=) c.787+5755G= (n.787+5755G=) c.4182G= (p.Leu1394=) | |
| 8 | g.54628043G>T | CA370981431 | RP1 | c.4161G>T (p.Leu1387Phe) c.787+5755G>T (n.787+5755G>T) c.4182G>T (p.Leu1394Phe) | |
| 8 | g.54628044G>A | CA370981433 | RP1 | c.4162G>A (p.Val1388Met) c.787+5756G>A (n.787+5756G>A) c.4183G>A (p.Val1395Met) | gnomAD v4 |
| 8 | g.54628044G>C | CA370981435 | RP1 | c.4162G>C (p.Val1388Leu) c.787+5756G>C (n.787+5756G>C) c.4183G>C (p.Val1395Leu) | |
| 8 | g.54628044G>T | CA370981437 | RP1 | c.4162G>T (p.Val1388Leu) c.787+5756G>T (n.787+5756G>T) c.4183G>T (p.Val1395Leu) | |
| 8 | g.54628045T>A | CA370981439 | RP1 | c.4163T>A (p.Val1388Glu) c.787+5757T>A (n.787+5757T>A) c.4184T>A (p.Val1395Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628045T>C | CA370981441 | RP1 | c.4163T>C (p.Val1388Ala) c.787+5757T>C (n.787+5757T>C) c.4184T>C (p.Val1395Ala) | |
| 8 | g.54628045T>G | CA370981443 | RP1 | c.4163T>G (p.Val1388Gly) c.787+5757T>G (n.787+5757T>G) c.4184T>G (p.Val1395Gly) | |
| 8 | g.54628045T= | CA1785189008 | RP1 | c.4163T= (p.Val1388=) c.787+5757T= (n.787+5757T=) c.4184T= (p.Val1395=) | |
| 8 | g.54628046G>A | CA461099761 | RP1 | c.4164G>A (p.Val1388=) c.787+5758G>A (n.787+5758G>A) c.4185G>A (p.Val1395=) | gnomAD v4 |
| 8 | g.54628046G>C | CA461099763 | RP1 | c.4164G>C (p.Val1388=) c.787+5758G>C (n.787+5758G>C) c.4185G>C (p.Val1395=) | |
| 8 | g.54628046G>T | CA461099764 | RP1 | c.4164G>T (p.Val1388=) c.787+5758G>T (n.787+5758G>T) c.4185G>T (p.Val1395=) | gnomAD v4 |
| 8 | g.54628047T>A | CA370981445 | RP1 | c.4165T>A (p.Ser1389Thr) c.787+5759T>A (n.787+5759T>A) c.4186T>A (p.Ser1396Thr) | |
| 8 | g.54628047T>C | CA4751810 | RP1 | c.4165T>C (p.Ser1389Pro) c.787+5759T>C (n.787+5759T>C) c.4186T>C (p.Ser1396Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628047T>G | CA370981449 | RP1 | c.4165T>G (p.Ser1389Ala) c.787+5759T>G (n.787+5759T>G) c.4186T>G (p.Ser1396Ala) | |
| 8 | g.54628047T= | CA1785189009 | RP1 | c.4165T= (p.Ser1389=) c.787+5759T= (n.787+5759T=) c.4186T= (p.Ser1396=) | |
| 8 | g.54628048C>A | CA370981455 | RP1 | c.4166C>A (p.Ser1389Ter) c.787+5760C>A (n.787+5760C>A) c.4187C>A (p.Ser1396Ter) | |
| 8 | g.54628048C>G | CA370981451 | RP1 | c.4166C>G (p.Ser1389Ter) c.787+5760C>G (n.787+5760C>G) c.4187C>G (p.Ser1396Ter) | gnomAD v4 |
| 8 | g.54628048C>T | CA370981453 | RP1 | c.4166C>T (p.Ser1389Leu) c.787+5760C>T (n.787+5760C>T) c.4187C>T (p.Ser1396Leu) | |
| 8 | g.54628049A= | CA1785189010 | RP1 | c.4167A= (p.Ser1389=) c.787+5761A= (n.787+5761A=) c.4188A= (p.Ser1396=) | |
| 8 | g.54628049A>C | CA461099767 | RP1 | c.4167A>C (p.Ser1389=) c.787+5761A>C (n.787+5761A>C) c.4188A>C (p.Ser1396=) | |
| 8 | g.54628049A>G | CA4751811 | RP1 | c.4167A>G (p.Ser1389=) c.787+5761A>G (n.787+5761A>G) c.4188A>G (p.Ser1396=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628049A>T | CA461099768 | RP1 | c.4167A>T (p.Ser1389=) c.787+5761A>T (n.787+5761A>T) c.4188A>T (p.Ser1396=) | |
| 8 | g.54628050C>A | CA370981460 | RP1 | c.4168C>A (p.His1390Asn) c.787+5762C>A (n.787+5762C>A) c.4189C>A (p.His1397Asn) | |
| 8 | g.54628050C= | CA1785189011 | RP1 | c.4168C= (p.His1390=) c.787+5762C= (n.787+5762C=) c.4189C= (p.His1397=) | |
| 8 | g.54628050C>G | CA370981461 | RP1 | c.4168C>G (p.His1390Asp) c.787+5762C>G (n.787+5762C>G) c.4189C>G (p.His1397Asp) | |
| 8 | g.54628050C>T | CA370981464 | RP1 | c.4168C>T (p.His1390Tyr) c.787+5762C>T (n.787+5762C>T) c.4189C>T (p.His1397Tyr) | dbSNP gnomAD v2 gnomAD v4 |