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.10622782G>A | CA4625710 | RP1L1 | c.420C>T (p.Gly140=) n.670C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622782G>C | CA459620281 | RP1L1 | c.420C>G (p.Gly140=) n.670C>G | |
8 | g.10622782G= | CA1763389835 | RP1L1 | c.420C= (p.Gly140=) n.670C= | |
8 | g.10622782G>T | CA4625709 | RP1L1 | c.420C>A (p.Gly140=) n.670C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622783C>A | CA370300221 | RP1L1 | c.419G>T (p.Gly140Val) n.669G>T | gnomAD v4 |
8 | g.10622783C>G | CA370300222 | RP1L1 | c.419G>C (p.Gly140Ala) n.669G>C | |
8 | g.10622783C>T | CA370300223 | RP1L1 | c.419G>A (p.Gly140Asp) n.669G>A | gnomAD v4 COSMIC |
8 | g.10622784dup | CA4625711 | RP1L1 | c.419dup (p.Thr141HisfsTer9) n.669dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622784C>A | CA370300224 | RP1L1 | c.418G>T (p.Gly140Cys) n.668G>T | |
8 | g.10622784C>G | CA370300226 | RP1L1 | c.418G>C (p.Gly140Arg) n.668G>C | |
8 | g.10622784C>T | CA370300227 | RP1L1 | c.418G>A (p.Gly140Ser) n.668G>A | gnomAD v4 |
8 | g.10622784_10622785delinsCT | CA1763389838 | RP1L1 | c.417_418delinsAG (p.Pro139=) n.667_668delinsAG | |
8 | g.10622785del | CA171954710 | RP1L1 | c.417del (p.Gly140AlafsTer17) n.667del | dbSNP |
8 | g.10622785T>A | CA459620283 | RP1L1 | c.417A>T (p.Pro139=) n.667A>T | |
8 | g.10622785T>C | CA459620284 | RP1L1 | c.417A>G (p.Pro139=) n.667A>G | dbSNP gnomAD v4 |
8 | g.10622785T>G | CA459620285 | RP1L1 | c.417A>C (p.Pro139=) n.667A>C | |
8 | g.10622785T= | CA1763389840 | RP1L1 | c.417A= (p.Pro139=) n.667A= | |
8 | g.10622786G>A | CA4625713 | RP1L1 | c.416C>T (p.Pro139Leu) n.666C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622786G>C | CA370300231 | RP1L1 | c.416C>G (p.Pro139Arg) n.666C>G | gnomAD v4 |
8 | g.10622786G= | CA1763389843 | RP1L1 | c.416C= (p.Pro139=) n.666C= | |
8 | g.10622786G>T | CA370300229 | RP1L1 | c.416C>A (p.Pro139Gln) n.666C>A | |
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.10622787G>A | CA4625715 | RP1L1 | c.415C>T (p.Pro139Ser) n.665C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622787G>C | CA4625716 | RP1L1 | c.415C>G (p.Pro139Ala) n.665C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622787G= | CA1763389846 | RP1L1 | c.415C= (p.Pro139=) n.665C= | |
8 | g.10622787G>T | CA370300237 | RP1L1 | c.415C>A (p.Pro139Thr) n.665C>A | |
8 | g.10622787_10622788insA | CA4625714 | RP1L1 | c.414_415insT (p.Pro139SerfsTer11) n.664_665insT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622788G>A | CA459620290 | RP1L1 | c.414C>T (p.Ala138=) n.664C>T | gnomAD v4 |
8 | g.10622788G>C | CA459620291 | RP1L1 | c.414C>G (p.Ala138=) n.664C>G | |
8 | g.10622788G>T | CA459620292 | RP1L1 | c.414C>A (p.Ala138=) n.664C>A | gnomAD v4 |
8 | g.10622788_10622789insCG | CA845136248 | RP1L1 | c.414_415insGC (p.Pro139AlafsTer19) n.664_665insGC | dbSNP |
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 |