Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) |