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