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.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.10622776G>A | CA459620226 | RP1L1 | c.426C>T (p.Ser142=) n.676C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622776G>C | CA459620227 | RP1L1 | c.426C>G (p.Ser142=) n.676C>G | gnomAD v4 |
8 | g.10622776G= | CA1763389822 | RP1L1 | c.426C= (p.Ser142=) n.676C= | |
8 | g.10622776G>T | CA4625707 | RP1L1 | c.426C>A (p.Ser142=) n.676C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622777G>A | CA370300201 | RP1L1 | c.425C>T (p.Ser142Phe) n.675C>T | |
8 | g.10622777G>C | CA370300202 | RP1L1 | c.425C>G (p.Ser142Cys) n.675C>G | |
8 | g.10622777G>T | CA370300204 | RP1L1 | c.425C>A (p.Ser142Tyr) n.675C>A | |
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.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 |
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 |
8 | g.10622801C>A | CA370300285 | RP1L1 | c.401G>T (p.Gly134Val) n.651G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622801C= | CA1763389881 | RP1L1 | c.401G= (p.Gly134=) n.651G= | |
8 | g.10622801C>G | CA370300283 | RP1L1 | c.401G>C (p.Gly134Ala) n.651G>C | |
8 | g.10622801C>T | CA171954725 | RP1L1 | c.401G>A (p.Gly134Asp) n.651G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622802C>A | CA4625722 | RP1L1 | c.400G>T (p.Gly134Cys) n.650G>T | dbSNP ExAC gnomAD v2 |
8 | g.10622802C= | CA1763389886 | RP1L1 | c.400G= (p.Gly134=) n.650G= | |
8 | g.10622802C>G | CA370300287 | RP1L1 | c.400G>C (p.Gly134Arg) n.650G>C | gnomAD v4 |
8 | g.10622802C>T | CA4625721 | RP1L1 | c.400G>A (p.Gly134Ser) n.650G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622803T>A | CA370300289 | RP1L1 | c.399A>T (p.Glu133Asp) n.649A>T | |
8 | g.10622803T>C | CA459620313 | RP1L1 | c.399A>G (p.Glu133=) n.649A>G | |
8 | g.10622803T>G | CA370300291 | RP1L1 | c.399A>C (p.Glu133Asp) n.649A>C | |
8 | g.10622804T>A | CA370300292 | RP1L1 | c.398A>T (p.Glu133Val) n.648A>T | |
8 | g.10622804T>C | CA4625723 | RP1L1 | c.398A>G (p.Glu133Gly) n.648A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622804T>G | CA370300294 | RP1L1 | c.398A>C (p.Glu133Ala) n.648A>C | |
8 | g.10622804T= | CA1763389890 | RP1L1 | c.398A= (p.Glu133=) n.648A= | |
8 | g.10622805C>A | CA370300296 | RP1L1 | c.397G>T (p.Glu133Ter) n.647G>T | ClinVar |
8 | g.10622805C= | CA1763389893 | RP1L1 | c.397G= (p.Glu133=) n.647G= | |
8 | g.10622805C>G | CA370300298 | RP1L1 | c.397G>C (p.Glu133Gln) n.647G>C | |
8 | g.10622805C>T | CA4625724 | RP1L1 | c.397G>A (p.Glu133Lys) n.647G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622806G>A | CA4625726 | RP1L1 | c.396C>T (p.Val132=) n.646C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622806G>C | CA4625725 | RP1L1 | c.396C>G (p.Val132=) n.646C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622806G= | CA1763389894 | RP1L1 | c.396C= (p.Val132=) n.646C= | |
8 | g.10622806G>T | CA459620318 | RP1L1 | c.396C>A (p.Val132=) n.646C>A | |
8 | g.10622807A= | CA1763389897 | RP1L1 | c.395T= (p.Val132=) n.645T= | |
8 | g.10622807A>C | CA370300303 | RP1L1 | c.395T>G (p.Val132Gly) n.645T>G | |
8 | g.10622807A>G | CA370300304 | RP1L1 | c.395T>C (p.Val132Ala) n.645T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622807A>T | CA370300302 | RP1L1 | c.395T>A (p.Val132Asp) n.645T>A | |
8 | g.10622808C>A | CA370300306 | RP1L1 | c.394G>T (p.Val132Phe) n.644G>T | gnomAD v4 |
8 | g.10622808C= | CA1763389901 | RP1L1 | c.394G= (p.Val132=) n.644G= | |
8 | g.10622808C>G | CA370300307 | RP1L1 | c.394G>C (p.Val132Leu) n.644G>C | |
8 | g.10622808C>T | CA4625727 | RP1L1 | c.394G>A (p.Val132Ile) n.644G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622809A>C | CA370300308 | RP1L1 | c.393T>G (p.Asp131Glu) n.643T>G | |
8 | g.10622809A>G | CA459620322 | RP1L1 | c.393T>C (p.Asp131=) n.643T>C | |
8 | g.10622809A>T | CA370300309 | RP1L1 | c.393T>A (p.Asp131Glu) n.643T>A | |
8 | g.10622810T>A | CA370300311 | RP1L1 | c.392A>T (p.Asp131Val) n.642A>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622810T>C | CA370300312 | RP1L1 | c.392A>G (p.Asp131Gly) n.642A>G | |
8 | g.10622810T>G | CA370300314 | RP1L1 | c.392A>C (p.Asp131Ala) n.642A>C | |
8 | g.10622810T= | CA1763389903 | RP1L1 | c.392A= (p.Asp131=) n.642A= | |
8 | g.10622811C>A | CA370300315 | RP1L1 | c.391G>T (p.Asp131Tyr) n.641G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622811C= | CA1763389904 | RP1L1 | c.391G= (p.Asp131=) n.641G= | |
8 | g.10622811C>G | CA370300316 | RP1L1 | c.391G>C (p.Asp131His) n.641G>C | |
8 | g.10622811C>T | CA370300317 | RP1L1 | c.391G>A (p.Asp131Asn) n.641G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622812C>A | CA459620328 | RP1L1 | c.390G>T (p.Arg130=) n.640G>T | |
8 | g.10622812C= | CA1763389906 | RP1L1 | c.390G= (p.Arg130=) n.640G= | |
8 | g.10622812C>G | CA459620329 | RP1L1 | c.390G>C (p.Arg130=) n.640G>C | |
8 | g.10622812C>T | CA459620330 | RP1L1 | c.390G>A (p.Arg130=) n.640G>A | dbSNP gnomAD v4 |
8 | g.10622813C>A | CA370300319 | RP1L1 | c.389G>T (p.Arg130Leu) n.639G>T | dbSNP gnomAD v2 COSMIC |
8 | g.10622813C= | CA1763389911 | RP1L1 | c.389G= (p.Arg130=) n.639G= | |
8 | g.10622813C>G | CA370300320 | RP1L1 | c.389G>C (p.Arg130Pro) n.639G>C | |
8 | g.10622813C>T | CA4625728 | RP1L1 | c.389G>A (p.Arg130Gln) n.639G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622814G>A | CA4625729 | RP1L1 | c.388C>T (p.Arg130Trp) n.638C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622814G>C | CA370300323 | RP1L1 | c.388C>G (p.Arg130Gly) n.638C>G | |
8 | g.10622814G= | CA1763389914 | RP1L1 | c.388C= (p.Arg130=) n.638C= | |
8 | g.10622814G>T | CA459620333 | RP1L1 | c.388C>A (p.Arg130=) n.638C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622815C>A | CA370300325 | RP1L1 | c.387G>T (p.Leu129Phe) n.637G>T | |
8 | g.10622815C= | CA1763389917 | RP1L1 | c.387G= (p.Leu129=) n.637G= | |
8 | g.10622815C>G | CA4625730 | RP1L1 | c.387G>C (p.Leu129Phe) n.637G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622815C>T | CA4625731 | RP1L1 | c.387G>A (p.Leu129=) n.637G>A | dbSNP ExAC |
8 | g.10622815dup | CA2523784224 | RP1L1 | c.387dup (p.Arg130AlafsTer8) n.637dup | gnomAD v4 |
8 | g.10622816A= | CA1763389919 | RP1L1 | c.386T= (p.Leu129=) n.636T= | |
8 | g.10622816A>C | CA370300327 | RP1L1 | c.386T>G (p.Leu129Trp) n.636T>G | |
8 | g.10622816A>G | CA370300328 | RP1L1 | c.386T>C (p.Leu129Ser) n.636T>C | ClinVar dbSNP gnomAD v4 |
8 | g.10622816A>T | CA370300329 | RP1L1 | c.386T>A (p.Leu129Ter) n.636T>A | dbSNP |
8 | g.10622817A= | CA1763389922 | RP1L1 | c.385T= (p.Leu129=) n.635T= | |
8 | g.10622817A>C | CA370300331 | RP1L1 | c.385T>G (p.Leu129Val) n.635T>G | |
8 | g.10622817A>G | CA4625732 | RP1L1 | c.385T>C (p.Leu129=) n.635T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622817A>T | CA370300332 | RP1L1 | c.385T>A (p.Leu129Met) n.635T>A | |
8 | g.10622818C>A | CA370300333 | RP1L1 | c.384G>T (p.Gln128His) n.634G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622818C= | CA1763389924 | RP1L1 | c.384G= (p.Gln128=) n.634G= | |
8 | g.10622818C>G | CA4625733 | RP1L1 | c.384G>C (p.Gln128His) n.634G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622818C>T | CA459620339 | RP1L1 | c.384G>A (p.Gln128=) n.634G>A | gnomAD v4 |
8 | g.10622819T>A | CA370300338 | RP1L1 | c.383A>T (p.Gln128Leu) n.633A>T | COSMIC |
8 | g.10622819T>C | CA370300339 | RP1L1 | c.383A>G (p.Gln128Arg) n.633A>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622819T>G | CA4625734 | RP1L1 | c.383A>C (p.Gln128Pro) n.633A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622819T= | CA1763389928 | RP1L1 | c.383A= (p.Gln128=) n.633A= | |
8 | g.10622820G>A | CA370300343 | RP1L1 | c.382C>T (p.Gln128Ter) n.632C>T | gnomAD v4 |
8 | g.10622820G>C | CA370300342 | RP1L1 | c.382C>G (p.Gln128Glu) n.632C>G | gnomAD v4 |
8 | g.10622820G>T | CA370300341 | RP1L1 | c.382C>A (p.Gln128Lys) n.632C>A | |
8 | g.10622821C>A | CA370300344 | RP1L1 | c.381G>T (p.Gln127His) n.631G>T | gnomAD v4 |
8 | g.10622821C= | CA1763389931 | RP1L1 | c.381G= (p.Gln127=) n.631G= | |
8 | g.10622821C>G | CA370300345 | RP1L1 | c.381G>C (p.Gln127His) n.631G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622821C>T | CA459620346 | RP1L1 | c.381G>A (p.Gln127=) n.631G>A | gnomAD v4 |
8 | g.10622822T>A | CA370300347 | RP1L1 | c.380A>T (p.Gln127Leu) n.630A>T | ClinVar dbSNP gnomAD v4 |
8 | g.10622822T>C | CA370300348 | RP1L1 | c.380A>G (p.Gln127Arg) n.630A>G | dbSNP |
8 | g.10622822T>G | CA370300350 | RP1L1 | c.380A>C (p.Gln127Pro) n.630A>C | |
8 | g.10622822T= | CA1763389934 | RP1L1 | c.380A= (p.Gln127=) n.630A= | |
8 | g.10622823G>A | CA171954747 | RP1L1 | c.379C>T (p.Gln127Ter) n.629C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622823G>C | CA370300354 | RP1L1 | c.379C>G (p.Gln127Glu) n.629C>G | gnomAD v4 |
8 | g.10622823G= | CA1763389935 | RP1L1 | c.379C= (p.Gln127=) n.629C= | |
8 | g.10622823G>T | CA370300355 | RP1L1 | c.379C>A (p.Gln127Lys) n.629C>A | |
8 | g.10622824A= | CA1763389938 | RP1L1 | c.378T= (p.Ala126=) n.628T= | |
8 | g.10622824A>C | CA459620350 | RP1L1 | c.378T>G (p.Ala126=) n.628T>G | |
8 | g.10622824A>G | CA4625735 | RP1L1 | c.378T>C (p.Ala126=) n.628T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622824A>T | CA459620349 | RP1L1 | c.378T>A (p.Ala126=) n.628T>A | |
8 | g.10622825G>A | CA370300357 | RP1L1 | c.377C>T (p.Ala126Val) n.627C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622825G>C | CA370300359 | RP1L1 | c.377C>G (p.Ala126Gly) n.627C>G | |
8 | g.10622825G= | CA1763389940 | RP1L1 | c.377C= (p.Ala126=) n.627C= | |
8 | g.10622825G>T | CA370300360 | RP1L1 | c.377C>A (p.Ala126Asp) n.627C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622826C>A | CA370300364 | RP1L1 | c.376G>T (p.Ala126Ser) n.626G>T | ClinVar |
8 | g.10622826C>G | CA370300362 | RP1L1 | c.376G>C (p.Ala126Pro) n.626G>C | |
8 | g.10622826C>T | CA370300363 | RP1L1 | c.376G>A (p.Ala126Thr) n.626G>A | ClinVar dbSNP |
8 | g.10622827A>C | CA459620353 | RP1L1 | c.375T>G (p.Thr125=) n.625T>G | |
8 | g.10622827A>G | CA459620355 | RP1L1 | c.375T>C (p.Thr125=) n.625T>C | |
8 | g.10622827A>T | CA459620356 | RP1L1 | c.375T>A (p.Thr125=) n.625T>A | |
8 | g.10622828G>A | CA370300366 | RP1L1 | c.374C>T (p.Thr125Ile) n.624C>T | |
8 | g.10622828G>C | CA370300368 | RP1L1 | c.374C>G (p.Thr125Ser) n.624C>G | dbSNP gnomAD v4 |
8 | g.10622828G>T | CA370300369 | RP1L1 | c.374C>A (p.Thr125Asn) n.624C>A | |
8 | g.10622829T>A | CA370300371 | RP1L1 | c.373A>T (p.Thr125Ser) n.623A>T | |
8 | g.10622829T>C | CA370300373 | RP1L1 | c.373A>G (p.Thr125Ala) n.623A>G | |
8 | g.10622829T>G | CA171954751 | RP1L1 | c.373A>C (p.Thr125Pro) n.623A>C | dbSNP |
8 | g.10622829T= | CA1763389944 | RP1L1 | c.373A= (p.Thr125=) n.623A= | |
8 | g.10622830G>A | CA459620360 | RP1L1 | c.372C>T (p.Pro124=) n.622C>T | gnomAD v4 |
8 | g.10622830G>C | CA459620359 | RP1L1 | c.372C>G (p.Pro124=) n.622C>G | gnomAD v4 |
8 | g.10622830G>T | CA459620361 | RP1L1 | c.372C>A (p.Pro124=) n.622C>A | gnomAD v4 |
8 | g.10622833dup | CA2779033579 | RP1L1 | c.372dup (p.Thr125HisfsTer13) n.622dup | |
8 | g.10622831G>A | CA4625736 | RP1L1 | c.371C>T (p.Pro124Leu) n.621C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622831G>C | CA370300375 | RP1L1 | c.371C>G (p.Pro124Arg) n.621C>G | dbSNP |
8 | g.10622831G= | CA1763389950 | RP1L1 | c.371C= (p.Pro124=) n.621C= | |
8 | g.10622831G>T | CA370300377 | RP1L1 | c.371C>A (p.Pro124His) n.621C>A | |
8 | g.10622832G>A | CA370300379 | RP1L1 | c.370C>T (p.Pro124Ser) n.620C>T | gnomAD v4 |
8 | g.10622832G>C | CA171954755 | RP1L1 | c.370C>G (p.Pro124Ala) n.620C>G | ClinVar dbSNP gnomAD v4 |
8 | g.10622832G= | CA1763389953 | RP1L1 | c.370C= (p.Pro124=) n.620C= | |
8 | g.10622832G>T | CA370300380 | RP1L1 | c.370C>A (p.Pro124Thr) n.620C>A | |
8 | g.10622832_10622837dup | CA2686114620 | RP1L1 | c.365_370dup (p.Asn123_Pro124insArgAsn) n.615_620dup | gnomAD v4 |
8 | g.10622833G>A | CA459620367 | RP1L1 | c.369C>T (p.Asn123=) n.619C>T | gnomAD v4 |
8 | g.10622833G>C | CA370300384 | RP1L1 | c.369C>G (p.Asn123Lys) n.619C>G | |
8 | g.10622833G>T | CA370300382 | RP1L1 | c.369C>A (p.Asn123Lys) n.619C>A | COSMIC |
8 | g.10622834T>A | CA370300385 | RP1L1 | c.368A>T (p.Asn123Ile) n.618A>T | |
8 | g.10622834T>C | CA370300387 | RP1L1 | c.368A>G (p.Asn123Ser) n.618A>G | |
8 | g.10622834T>G | CA370300388 | RP1L1 | c.368A>C (p.Asn123Thr) n.618A>C | |
8 | g.10622835T>A | CA370300389 | RP1L1 | c.367A>T (p.Asn123Tyr) n.617A>T | dbSNP |
8 | g.10622835T>C | CA370300390 | RP1L1 | c.367A>G (p.Asn123Asp) n.617A>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622835T>G | CA370300392 | RP1L1 | c.367A>C (p.Asn123His) n.617A>C | |
8 | g.10622835T= | CA1763389958 | RP1L1 | c.367A= (p.Asn123=) n.617A= | |
8 | g.10622835_10622837delinsTTC | CA1763389957 | RP1L1 | c.365_367delinsGAA (p.Arg122=) n.615_617delinsGAA | |
8 | g.10622836T>A | CA370300394 | RP1L1 | c.366A>T (p.Arg122Ser) n.616A>T | |
8 | g.10622836T>C | CA459620369 | RP1L1 | c.366A>G (p.Arg122=) n.616A>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622836T>G | CA370300395 | RP1L1 | c.366A>C (p.Arg122Ser) n.616A>C | |
8 | g.10622836T= | CA1763389961 | RP1L1 | c.366A= (p.Arg122=) n.616A= | |
8 | g.10622840_10622841del | CA4625737 | RP1L1 | c.365_366del (p.Arg122LysfsTer15) n.615_616del | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622837C>A | CA370300397 | RP1L1 | c.365G>T (p.Arg122Ile) n.615G>T | |
8 | g.10622837C>G | CA370300399 | RP1L1 | c.365G>C (p.Arg122Thr) n.615G>C | ClinVar gnomAD v4 |
8 | g.10622837C>T | CA370300401 | RP1L1 | c.365G>A (p.Arg122Lys) n.615G>A | |
8 | g.10622838T>A | CA370300402 | RP1L1 | c.364A>T (p.Arg122Ter) n.614A>T | |
8 | g.10622838T>C | CA171954757 | RP1L1 | c.364A>G (p.Arg122Gly) n.614A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622838T>G | CA459620373 | RP1L1 | c.364A>C (p.Arg122=) n.614A>C | |
8 | g.10622838T= | CA1763389964 | RP1L1 | c.364A= (p.Arg122=) n.614A= | |
8 | g.10622839C>A | CA4625738 | RP1L1 | c.363G>T (p.Glu121Asp) n.613G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.10622839C= | CA1763389968 | RP1L1 | c.363G= (p.Glu121=) n.613G= | |
8 | g.10622839C>G | CA370300403 | RP1L1 | c.363G>C (p.Glu121Asp) n.613G>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622839C>T | CA459620375 | RP1L1 | c.363G>A (p.Glu121=) n.613G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622840T>A | CA370300404 | RP1L1 | c.362A>T (p.Glu121Val) n.612A>T | |
8 | g.10622840T>C | CA370300405 | RP1L1 | c.362A>G (p.Glu121Gly) n.612A>G | COSMIC |
8 | g.10622840T>G | CA370300407 | RP1L1 | c.362A>C (p.Glu121Ala) n.612A>C | |
8 | g.10622841C>A | CA370300409 | RP1L1 | c.361G>T (p.Glu121Ter) n.611G>T | |
8 | g.10622841C= | CA1763389972 | RP1L1 | c.361G= (p.Glu121=) n.611G= | |
8 | g.10622841C>G | CA4625739 | RP1L1 | c.361G>C (p.Glu121Gln) n.611G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622841C>T | CA171954762 | RP1L1 | c.361G>A (p.Glu121Lys) n.611G>A | ClinVar dbSNP COSMIC |
8 | g.10622842C>A | CA370300412 | RP1L1 | c.360G>T (p.Gln120His) n.610G>T | ClinVar |
8 | g.10622842C>G | CA370300410 | RP1L1 | c.360G>C (p.Gln120His) n.610G>C | |
8 | g.10622842C>T | CA459620380 | RP1L1 | c.360G>A (p.Gln120=) n.610G>A | COSMIC |
8 | g.10622843T>A | CA370300413 | RP1L1 | c.359A>T (p.Gln120Leu) n.609A>T | |
8 | g.10622843T>C | CA370300414 | RP1L1 | c.359A>G (p.Gln120Arg) n.609A>G | |
8 | g.10622843T>G | CA370300415 | RP1L1 | c.359A>C (p.Gln120Pro) n.609A>C | |
8 | g.10622844G>A | CA171954764 | RP1L1 | c.358C>T (p.Gln120Ter) n.608C>T | dbSNP gnomAD v4 |
8 | g.10622844G>C | CA370300417 | RP1L1 | c.358C>G (p.Gln120Glu) n.608C>G | |
8 | g.10622844G= | CA1763389976 | RP1L1 | c.358C= (p.Gln120=) n.608C= | |
8 | g.10622844G>T | CA370300419 | RP1L1 | c.358C>A (p.Gln120Lys) n.608C>A | ClinVar dbSNP |
8 | g.10622845T>A | CA459620382 | RP1L1 | c.357A>T (p.Pro119=) n.607A>T | |
8 | g.10622845T>C | CA459620383 | RP1L1 | c.357A>G (p.Pro119=) n.607A>G | gnomAD v4 |
8 | g.10622845T>G | CA459620384 | RP1L1 | c.357A>C (p.Pro119=) n.607A>C | gnomAD v4 |
8 | g.10622846G>A | CA4625740 | RP1L1 | c.356C>T (p.Pro119Leu) n.606C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622846G>C | CA370300422 | RP1L1 | c.356C>G (p.Pro119Arg) n.606C>G | |
8 | g.10622846G= | CA1763389979 | RP1L1 | c.356C= (p.Pro119=) n.606C= | |
8 | g.10622846G>T | CA370300421 | RP1L1 | c.356C>A (p.Pro119Gln) n.606C>A | dbSNP |
8 | g.10622850_10622853del | CA2579091972 | RP1L1 | c.353_356del (p.Arg118HisfsTer?) n.603_606del | ClinVar gnomAD v4 |
8 | g.10622847G>A | CA4625741 | RP1L1 | c.355C>T (p.Pro119Ser) n.605C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622847G>C | CA370300423 | RP1L1 | c.355C>G (p.Pro119Ala) n.605C>G | |
8 | g.10622847G= | CA1763389983 | RP1L1 | c.355C= (p.Pro119=) n.605C= | |
8 | g.10622847G>T | CA370300424 | RP1L1 | c.355C>A (p.Pro119Thr) n.605C>A | dbSNP |
8 | g.10622848C>A | CA459620385 | RP1L1 | c.354G>T (p.Arg118=) n.604G>T | |
8 | g.10622848C= | CA1763389988 | RP1L1 | c.354G= (p.Arg118=) n.604G= | |
8 | g.10622848C>G | CA459620386 | RP1L1 | c.354G>C (p.Arg118=) n.604G>C | |
8 | g.10622848C>T | CA4625742 | RP1L1 | c.354G>A (p.Arg118=) n.604G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622849C>A | CA370300426 | RP1L1 | c.353G>T (p.Arg118Leu) n.603G>T | |
8 | g.10622849C= | CA1763389993 | RP1L1 | c.353G= (p.Arg118=) n.603G= | |
8 | g.10622849C>G | CA370300428 | RP1L1 | c.353G>C (p.Arg118Pro) n.603G>C | |
8 | g.10622849C>T | CA4625743 | RP1L1 | c.353G>A (p.Arg118Gln) n.603G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622850G>A | CA4625744 | RP1L1 | c.352C>T (p.Arg118Trp) n.602C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622850G>C | CA370300430 | RP1L1 | c.352C>G (p.Arg118Gly) n.602C>G | |
8 | g.10622850G= | CA1763389999 | RP1L1 | c.352C= (p.Arg118=) n.602C= | |
8 | g.10622850G>T | CA459620389 | RP1L1 | c.352C>A (p.Arg118=) n.602C>A | |
8 | g.10622851G>A | CA4625745 | RP1L1 | c.351C>T (p.Gly117=) n.601C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622851G>C | CA171954773 | RP1L1 | c.351C>G (p.Gly117=) n.601C>G | dbSNP |
8 | g.10622851G= | CA1763390004 | RP1L1 | c.351C= (p.Gly117=) n.601C= | |
8 | g.10622851G>T | CA459620390 | RP1L1 | c.351C>A (p.Gly117=) n.601C>A | |
8 | g.10622852C>A | CA370300432 | RP1L1 | c.350G>T (p.Gly117Val) n.600G>T | gnomAD v4 |
8 | g.10622852C= | CA1763390009 | RP1L1 | c.350G= (p.Gly117=) n.600G= | |
8 | g.10622852C>G | CA370300434 | RP1L1 | c.350G>C (p.Gly117Ala) n.600G>C | |
8 | g.10622852C>T | CA4625746 | RP1L1 | c.350G>A (p.Gly117Asp) n.600G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622853dup | CA2686114626 | RP1L1 | c.350dup (p.Arg118ProfsTer20) n.600dup | gnomAD v4 |
8 | g.10622853C>A | CA370300439 | RP1L1 | c.349G>T (p.Gly117Cys) n.599G>T | |
8 | g.10622853C>G | CA370300436 | RP1L1 | c.349G>C (p.Gly117Arg) n.599G>C | |
8 | g.10622853C>T | CA370300438 | RP1L1 | c.349G>A (p.Gly117Ser) n.599G>A | gnomAD v4 |
8 | g.10622854T>A | CA459620393 | RP1L1 | c.348A>T (p.Pro116=) n.598A>T | ClinVar gnomAD v4 |
8 | g.10622854T>C | CA459620394 | RP1L1 | c.348A>G (p.Pro116=) n.598A>G | gnomAD v4 |
8 | g.10622854T>G | CA459620395 | RP1L1 | c.348A>C (p.Pro116=) n.598A>C | |
8 | g.10622855G>A | CA370300441 | RP1L1 | c.347C>T (p.Pro116Leu) n.597C>T | gnomAD v4 |
8 | g.10622855G>C | CA370300442 | RP1L1 | c.347C>G (p.Pro116Arg) n.597C>G | ClinVar gnomAD v4 |
8 | g.10622855G>T | CA370300443 | RP1L1 | c.347C>A (p.Pro116Gln) n.597C>A | |
8 | g.10622856G>A | CA370300445 | RP1L1 | c.346C>T (p.Pro116Ser) n.596C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622856G>C | CA171954777 | RP1L1 | c.346C>G (p.Pro116Ala) n.596C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622856G= | CA1763390015 | RP1L1 | c.346C= (p.Pro116=) n.596C= | |
8 | g.10622856G>T | CA370300447 | RP1L1 | c.346C>A (p.Pro116Thr) n.596C>A | |
8 | g.10622857T>A | CA459620397 | RP1L1 | c.345A>T (p.Gly115=) n.595A>T | |
8 | g.10622857T>C | CA171954779 | RP1L1 | c.345A>G (p.Gly115=) n.595A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622857T>G | CA459620398 | RP1L1 | c.345A>C (p.Gly115=) n.595A>C | |
8 | g.10622857T= | CA1763390020 | RP1L1 | c.345A= (p.Gly115=) n.595A= | |
8 | g.10622858C>A | CA370300448 | RP1L1 | c.344G>T (p.Gly115Val) n.594G>T | gnomAD v4 |
8 | g.10622858C= | CA1763390022 | RP1L1 | c.344G= (p.Gly115=) n.594G= | |
8 | g.10622858C>G | CA370300449 | RP1L1 | c.344G>C (p.Gly115Ala) n.594G>C | |
8 | g.10622858C>T | CA370300450 | RP1L1 | c.344G>A (p.Gly115Glu) n.594G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622859C>A | CA370300452 | RP1L1 | c.343G>T (p.Gly115Ter) n.593G>T | |
8 | g.10622859C>G | CA370300453 | RP1L1 | c.343G>C (p.Gly115Arg) n.593G>C | |
8 | g.10622859C>T | CA370300455 | RP1L1 | c.343G>A (p.Gly115Arg) n.593G>A | |
8 | g.10622860A= | CA1763390028 | RP1L1 | c.342T= (p.Ser114=) n.592T= | |
8 | g.10622860A>C | CA171954781 | RP1L1 | c.342T>G (p.Ser114Arg) n.592T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622860A>G | CA4625748 | RP1L1 | c.342T>C (p.Ser114=) n.592T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622860A>T | CA370300457 | RP1L1 | c.342T>A (p.Ser114Arg) n.592T>A | dbSNP |
8 | g.10622861C>A | CA370300461 | RP1L1 | c.341G>T (p.Ser114Ile) n.591G>T | |
8 | g.10622861C= | CA1763390031 | RP1L1 | c.341G= (p.Ser114=) n.591G= | |
8 | g.10622861C>G | CA370300462 | RP1L1 | c.341G>C (p.Ser114Thr) n.591G>C | |
8 | g.10622861C>T | CA370300460 | RP1L1 | c.341G>A (p.Ser114Asn) n.591G>A | dbSNP gnomAD v4 |
8 | g.10622863_10622882dup | CA4625747 | RP1L1 | c.322_341dup (p.Ser114ArgfsTer?) n.572_591dup | dbSNP ExAC gnomAD v2 |
8 | g.10622862T>A | CA370300464 | RP1L1 | c.340A>T (p.Ser114Cys) n.590A>T | |
8 | g.10622862T>C | CA370300466 | RP1L1 | c.340A>G (p.Ser114Gly) n.590A>G | gnomAD v4 |
8 | g.10622862T>G | CA370300467 | RP1L1 | c.340A>C (p.Ser114Arg) n.590A>C | |
8 | g.10622862T= | CA1763390033 | RP1L1 | c.340A= (p.Ser114=) n.590A= | |
8 | g.10622863G>A | CA459620403 | RP1L1 | c.339C>T (p.Pro113=) n.589C>T | dbSNP gnomAD v4 |
8 | g.10622863G>C | CA459620404 | RP1L1 | c.339C>G (p.Pro113=) n.589C>G | gnomAD v4 |
8 | g.10622863G= | CA1763390035 | RP1L1 | c.339C= (p.Pro113=) n.589C= | |
8 | g.10622863G>T | CA459620405 | RP1L1 | c.339C>A (p.Pro113=) n.589C>A | |
8 | g.10622867dup | CA580030623 | RP1L1 | c.339dup (p.Ser114GlnfsTer24) n.589dup | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622867del | CA2579091973 | RP1L1 | c.339del (p.Ser114ValfsTer?) n.589del | gnomAD v4 |
8 | g.10622865_10622867del | CA2686114630 | RP1L1 | c.337_339del (p.Pro113del) n.587_589del | gnomAD v4 |
8 | g.10622864G>A | CA370300469 | RP1L1 | c.338C>T (p.Pro113Leu) n.588C>T | gnomAD v4 |
8 | g.10622864G>C | CA370300470 | RP1L1 | c.338C>G (p.Pro113Arg) n.588C>G | gnomAD v4 |
8 | g.10622864G>T | CA370300472 | RP1L1 | c.338C>A (p.Pro113His) n.588C>A | gnomAD v4 |
8 | g.10622865G>A | CA4625749 | RP1L1 | c.337C>T (p.Pro113Ser) n.587C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622865G>C | CA370300473 | RP1L1 | c.337C>G (p.Pro113Ala) n.587C>G | |
8 | g.10622865G= | CA1763390039 | RP1L1 | c.337C= (p.Pro113=) n.587C= | |
8 | g.10622865G>T | CA370300475 | RP1L1 | c.337C>A (p.Pro113Thr) n.587C>A | |
8 | g.10622866G>A | CA171954793 | RP1L1 | c.336C>T (p.Thr112=) n.586C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622866G>C | CA459620410 | RP1L1 | c.336C>G (p.Thr112=) n.586C>G | |
8 | g.10622866G= | CA1763390046 | RP1L1 | c.336C= (p.Thr112=) n.586C= | |
8 | g.10622866G>T | CA4625750 | RP1L1 | c.336C>A (p.Thr112=) n.586C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622866_10622867insA | CA2686114633 | RP1L1 | c.335_336insT (p.Ser114GlnfsTer24) n.585_586insT | gnomAD v4 |
8 | g.10622867G>A | CA4625752 | RP1L1 | c.335C>T (p.Thr112Ile) n.585C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622867G>C | CA4625751 | RP1L1 | c.335C>G (p.Thr112Ser) n.585C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622867G= | CA1763390054 | RP1L1 | c.335C= (p.Thr112=) n.585C= | |
8 | g.10622867G>T | CA370300477 | RP1L1 | c.335C>A (p.Thr112Asn) n.585C>A | dbSNP |
8 | g.10622868T>A | CA370300478 | RP1L1 | c.334A>T (p.Thr112Ser) n.584A>T | |
8 | g.10622868T>C | CA370300482 | RP1L1 | c.334A>G (p.Thr112Ala) n.584A>G | |
8 | g.10622868T>G | CA370300480 | RP1L1 | c.334A>C (p.Thr112Pro) n.584A>C | dbSNP |
8 | g.10622868T= | CA1763390057 | RP1L1 | c.334A= (p.Thr112=) n.584A= | |
8 | g.10622869C>A | CA370300483 | RP1L1 | c.333G>T (p.Lys111Asn) n.583G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622869C= | CA1763390062 | RP1L1 | c.333G= (p.Lys111=) n.583G= | |
8 | g.10622869C>G | CA370300484 | RP1L1 | c.333G>C (p.Lys111Asn) n.583G>C | |
8 | g.10622869C>T | CA459620418 | RP1L1 | c.333G>A (p.Lys111=) n.583G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622869_10622870delinsCT | CA1763390060 | RP1L1 | c.332_333delinsAG (p.Lys111=) n.582_583delinsAG | |
8 | g.10622870T>A | CA370300486 | RP1L1 | c.332A>T (p.Lys111Met) n.582A>T | |
8 | g.10622870T>C | CA370300488 | RP1L1 | c.332A>G (p.Lys111Arg) n.582A>G | dbSNP gnomAD v4 |
8 | g.10622870T>G | CA370300489 | RP1L1 | c.332A>C (p.Lys111Thr) n.582A>C | gnomAD v4 |
8 | g.10622870T= | CA1763390069 | RP1L1 | c.332A= (p.Lys111=) n.582A= | |
8 | g.10622871del | CA916082972 | RP1L1 | c.332del (p.Lys111ArgfsTer?) n.582del | ClinVar dbSNP |
8 | g.10622870_10622871insG | CA171954798 | RP1L1 | c.331_332insC (p.Lys111ThrfsTer27) n.581_582insC | |
8 | g.10622871T>A | CA370300491 | RP1L1 | c.331A>T (p.Lys111Ter) n.581A>T | |
8 | g.10622871T>C | CA370300493 | RP1L1 | c.331A>G (p.Lys111Glu) n.581A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622871T>G | CA370300495 | RP1L1 | c.331A>C (p.Lys111Gln) n.581A>C | |
8 | g.10622871T= | CA1763390079 | RP1L1 | c.331A= (p.Lys111=) n.581A= | |
8 | g.10622871_10622872delinsTG | CA1763390076 | RP1L1 | c.330_331delinsCA (p.Pro110=) n.580_581delinsCA | |
8 | g.10622872G>A | CA171954802 | RP1L1 | c.330C>T (p.Pro110=) n.580C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622872G>C | CA4625754 | RP1L1 | c.330C>G (p.Pro110=) n.580C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622872G= | CA1763390086 | RP1L1 | c.330C= (p.Pro110=) n.580C= | |
8 | g.10622872G>T | CA459620421 | RP1L1 | c.330C>A (p.Pro110=) n.580C>A | gnomAD v4 |
8 | g.10622877dup | CA4625753 | RP1L1 | c.330dup (p.Lys111GlnfsTer27) n.580dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622877del | CA580030624 | RP1L1 | c.330del (p.Lys111ArgfsTer?) n.580del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622873G>A | CA4625755 | RP1L1 | c.329C>T (p.Pro110Leu) n.579C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622873G>C | CA4625756 | RP1L1 | c.329C>G (p.Pro110Arg) n.579C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622873G= | CA1763390091 | RP1L1 | c.329C= (p.Pro110=) n.579C= | |
8 | g.10622873G>T | CA171954806 | RP1L1 | c.329C>A (p.Pro110His) n.579C>A | dbSNP COSMIC |
8 | g.10622874G>A | CA4625757 | RP1L1 | c.328C>T (p.Pro110Ser) n.578C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622874G>C | CA370300498 | RP1L1 | c.328C>G (p.Pro110Ala) n.578C>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622874G= | CA1763390097 | RP1L1 | c.328C= (p.Pro110=) n.578C= | |
8 | g.10622874G>T | CA370300499 | RP1L1 | c.328C>A (p.Pro110Thr) n.578C>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622875G>A | CA4625759 | RP1L1 | c.327C>T (p.Pro109=) n.577C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622875G>C | CA459620425 | RP1L1 | c.327C>G (p.Pro109=) n.577C>G | |
8 | g.10622875G= | CA1763390104 | RP1L1 | c.327C= (p.Pro109=) n.577C= | |
8 | g.10622875G>T | CA459620426 | RP1L1 | c.327C>A (p.Pro109=) n.577C>A | |
8 | g.10622875_10622876insA | CA4625758 | RP1L1 | c.326_327insT (p.Lys111GlnfsTer27) n.576_577insT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622876G>A | CA4625760 | RP1L1 | c.326C>T (p.Pro109Leu) n.576C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622876G>C | CA370300500 | RP1L1 | c.326C>G (p.Pro109Arg) n.576C>G | |
8 | g.10622876G= | CA1763390108 | RP1L1 | c.326C= (p.Pro109=) n.576C= | |
8 | g.10622876G>T | CA4625761 | RP1L1 | c.326C>A (p.Pro109His) n.576C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |