| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.10622778_10622780dup | CA916082971 | RP1L1 | c.430_432dup (p.Ser144_Arg145insSer) n.680_682dup | ClinVar dbSNP |
| 8 | g.10622778_10622780del | CA4625703 | RP1L1 | c.430_432del (p.Ser144del) n.680_682del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622778A= | CA1763389824 | RP1L1 | c.424T= (p.Ser142=) n.674T= | |
| 8 | g.10622778A>C | CA4625708 | RP1L1 | c.424T>G (p.Ser142Ala) n.674T>G | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.10622778A>G | CA370300206 | RP1L1 | c.424T>C (p.Ser142Pro) n.674T>C | |
| 8 | g.10622778A>T | CA370300208 | RP1L1 | c.424T>A (p.Ser142Thr) n.674T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622779G>A | CA459620231 | RP1L1 | c.423C>T (p.Thr141=) n.673C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622779G>C | CA171954705 | RP1L1 | c.423C>G (p.Thr141=) n.673C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622779G= | CA1763389827 | RP1L1 | c.423C= (p.Thr141=) n.673C= | |
| 8 | g.10622779G>T | CA459620233 | RP1L1 | c.423C>A (p.Thr141=) n.673C>A | |
| 8 | g.10622780G>A | CA370300210 | RP1L1 | c.422C>T (p.Thr141Ile) n.672C>T | gnomAD v4 |
| 8 | g.10622780G>C | CA370300211 | RP1L1 | c.422C>G (p.Thr141Ser) n.672C>G | |
| 8 | g.10622780G>T | CA370300215 | RP1L1 | c.422C>A (p.Thr141Asn) n.672C>A | ClinVar gnomAD v4 |
| 8 | g.10622781T>A | CA370300219 | RP1L1 | c.421A>T (p.Thr141Ser) n.671A>T | |
| 8 | g.10622781T>C | CA370300217 | RP1L1 | c.421A>G (p.Thr141Ala) n.671A>G | gnomAD v4 |
| 8 | g.10622781T>G | CA370300216 | RP1L1 | c.421A>C (p.Thr141Pro) n.671A>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10622781T= | CA1763389830 | RP1L1 | c.421A= (p.Thr141=) n.671A= | |
| 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.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 |