Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.10622749_10622828dup | CA2779033567 | RP1L1 | c.375_454dup (p.Arg152LeufsTer32) n.625_704dup | |
8 | g.10622768_10622793del | CA2779033570 | RP1L1 | c.413_438del (p.Ala138GlufsTer3) n.663_688del | |
8 | g.10622789dup | CA4625712 | RP1L1 | c.416dup (p.Gly140ArgfsTer10) n.666dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622794_10622881del | CA2779033574 | RP1L1 | c.329_416del (p.Pro110GlnfsTer18) n.579_666del | |
8 | g.10622789G>A | CA370300238 | RP1L1 | c.413C>T (p.Ala138Val) n.663C>T | dbSNP gnomAD v4 |
8 | g.10622789G>C | CA370300245 | RP1L1 | c.413C>G (p.Ala138Gly) n.663C>G | |
8 | g.10622789G= | CA1763389850 | RP1L1 | c.413C= (p.Ala138=) n.663C= | |
8 | g.10622789G>T | CA370300241 | RP1L1 | c.413C>A (p.Ala138Asp) n.663C>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622790C>A | CA370300246 | RP1L1 | c.412G>T (p.Ala138Ser) n.662G>T | |
8 | g.10622790C= | CA1763389852 | RP1L1 | c.412G= (p.Ala138=) n.662G= | |
8 | g.10622790C>G | CA370300248 | RP1L1 | c.412G>C (p.Ala138Pro) n.662G>C | dbSNP |
8 | g.10622790C>T | CA370300249 | RP1L1 | c.412G>A (p.Ala138Thr) n.662G>A | ClinVar dbSNP gnomAD v4 |
8 | g.10622791T>A | CA370300250 | RP1L1 | c.411A>T (p.Glu137Asp) n.661A>T | |
8 | g.10622791T>C | CA459620295 | RP1L1 | c.411A>G (p.Glu137=) n.661A>G | dbSNP gnomAD v4 |
8 | g.10622791T>G | CA370300252 | RP1L1 | c.411A>C (p.Glu137Asp) n.661A>C | |
8 | g.10622792T>A | CA370300254 | RP1L1 | c.410A>T (p.Glu137Val) n.660A>T | |
8 | g.10622792T>C | CA370300258 | RP1L1 | c.410A>G (p.Glu137Gly) n.660A>G | dbSNP gnomAD v4 |
8 | g.10622792T>G | CA370300260 | RP1L1 | c.410A>C (p.Glu137Ala) n.660A>C | |
8 | g.10622792T= | CA1763389855 | RP1L1 | c.410A= (p.Glu137=) n.660A= | |
8 | g.10622793C>A | CA370300261 | RP1L1 | c.409G>T (p.Glu137Ter) n.659G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622793C= | CA1763389861 | RP1L1 | c.409G= (p.Glu137=) n.659G= | |
8 | g.10622793C>G | CA370300263 | RP1L1 | c.409G>C (p.Glu137Gln) n.659G>C | |
8 | g.10622793C>T | CA4625717 | RP1L1 | c.409G>A (p.Glu137Lys) n.659G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.10622794A= | CA1763389864 | RP1L1 | c.408T= (p.Arg136=) n.658T= | |
8 | g.10622794A>C | CA459620300 | RP1L1 | c.408T>G (p.Arg136=) n.658T>G | |
8 | g.10622794A>G | CA171954719 | RP1L1 | c.408T>C (p.Arg136=) n.658T>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622794A>T | CA459620301 | RP1L1 | c.408T>A (p.Arg136=) n.658T>A | |
8 | g.10622795C>A | CA370300265 | RP1L1 | c.407G>T (p.Arg136Leu) n.657G>T | |
8 | g.10622795C= | CA1763389868 | RP1L1 | c.407G= (p.Arg136=) n.657G= | |
8 | g.10622795C>G | CA4625719 | RP1L1 | c.407G>C (p.Arg136Pro) n.657G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622795C>T | CA4625718 | RP1L1 | c.407G>A (p.Arg136His) n.657G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622796G>A | CA4625720 | RP1L1 | c.406C>T (p.Arg136Cys) n.656C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622796G>C | CA370300267 | RP1L1 | c.406C>G (p.Arg136Gly) n.656C>G | |
8 | g.10622796G= | CA1763389872 | RP1L1 | c.406C= (p.Arg136=) n.656C= | |
8 | g.10622796G>T | CA370300268 | RP1L1 | c.406C>A (p.Arg136Ser) n.656C>A | |
8 | g.10622797C>A | CA370300270 | RP1L1 | c.405G>T (p.Gln135His) n.655G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622797C= | CA1763389873 | RP1L1 | c.405G= (p.Gln135=) n.655G= | |
8 | g.10622797C>G | CA370300271 | RP1L1 | c.405G>C (p.Gln135His) n.655G>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622797C>T | CA459620305 | RP1L1 | c.405G>A (p.Gln135=) n.655G>A | |
8 | g.10622798T>A | CA370300273 | RP1L1 | c.404A>T (p.Gln135Leu) n.654A>T | |
8 | g.10622798T>C | CA370300275 | RP1L1 | c.404A>G (p.Gln135Arg) n.654A>G | ClinVar dbSNP gnomAD v4 |
8 | g.10622798T>G | CA370300277 | RP1L1 | c.404A>C (p.Gln135Pro) n.654A>C | |
8 | g.10622798T= | CA1763389875 | RP1L1 | c.404A= (p.Gln135=) n.654A= | |
8 | g.10622799G>A | CA370300279 | RP1L1 | c.403C>T (p.Gln135Ter) n.653C>T | ClinVar dbSNP gnomAD v4 |
8 | g.10622799G>C | CA370300280 | RP1L1 | c.403C>G (p.Gln135Glu) n.653C>G | |
8 | g.10622799G>T | CA370300281 | RP1L1 | c.403C>A (p.Gln135Lys) n.653C>A | |
8 | g.10622800G>A | CA459620311 | RP1L1 | c.402C>T (p.Gly134=) n.652C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622800G>C | CA459620310 | RP1L1 | c.402C>G (p.Gly134=) n.652C>G | |
8 | g.10622800G= | CA1763389878 | RP1L1 | c.402C= (p.Gly134=) n.652C= | |
8 | g.10622800G>T | CA459620308 | RP1L1 | c.402C>A (p.Gly134=) n.652C>A | gnomAD v4 |