Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.30233599del | CA2612909762 | ARL14EP-DT,FSHB | c.189del (p.Ile65SerfsTer15) n.463+83293del n.284+83293del | gnomAD v4 |
11 | g.30233599C>A | CA473783024 | ARL14EP-DT,FSHB | c.189C>A (p.Pro63=) n.463+83291G>T n.284+83291G>T | |
11 | g.30233599C>G | CA473783025 | ARL14EP-DT,FSHB | c.189C>G (p.Pro63=) n.463+83291G>C n.284+83291G>C | |
11 | g.30233599C>T | CA473783026 | ARL14EP-DT,FSHB | c.189C>T (p.Pro63=) n.463+83291G>A n.284+83291G>A | |
11 | g.30233600A>C | CA380084150 | ARL14EP-DT,FSHB | c.190A>C (p.Lys64Gln) n.463+83290T>G n.284+83290T>G | |
11 | g.30233600A>G | CA380084151 | ARL14EP-DT,FSHB | c.190A>G (p.Lys64Glu) n.463+83290T>C n.284+83290T>C | |
11 | g.30233600A>T | CA380084152 | ARL14EP-DT,FSHB | c.190A>T (p.Lys64Ter) n.463+83290T>A n.284+83290T>A | |
11 | g.30233601A>C | CA380084153 | ARL14EP-DT,FSHB | c.191A>C (p.Lys64Thr) n.463+83289T>G n.284+83289T>G | |
11 | g.30233601A>G | CA380084154 | ARL14EP-DT,FSHB | c.191A>G (p.Lys64Arg) n.463+83289T>C n.284+83289T>C | gnomAD v4 |
11 | g.30233601A>T | CA380084155 | ARL14EP-DT,FSHB | c.191A>T (p.Lys64Ile) n.463+83289T>A n.284+83289T>A | |
11 | g.30233602A= | CA1961322235 | ARL14EP-DT,FSHB | c.192A= (p.Lys64=) n.463+83288T= n.284+83288T= | |
11 | g.30233602A>C | CA380084156 | ARL14EP-DT,FSHB | c.192A>C (p.Lys64Asn) n.463+83288T>G n.284+83288T>G | dbSNP |
11 | g.30233602A>G | CA473783030 | ARL14EP-DT,FSHB | c.192A>G (p.Lys64=) n.463+83288T>C n.284+83288T>C | |
11 | g.30233602A>T | CA380084157 | ARL14EP-DT,FSHB | c.192A>T (p.Lys64Asn) n.463+83288T>A n.284+83288T>A | |
11 | g.30233603A>C | CA380084158 | ARL14EP-DT,FSHB | c.193A>C (p.Ile65Leu) n.463+83287T>G n.284+83287T>G | gnomAD v4 |
11 | g.30233603A>G | CA380084159 | ARL14EP-DT,FSHB | c.193A>G (p.Ile65Val) n.463+83287T>C n.284+83287T>C | |
11 | g.30233603A>T | CA380084160 | ARL14EP-DT,FSHB | c.193A>T (p.Ile65Phe) n.463+83287T>A n.284+83287T>A | |
11 | g.30233604T>A | CA380084162 | ARL14EP-DT,FSHB | c.194T>A (p.Ile65Asn) n.463+83286A>T n.284+83286A>T | |
11 | g.30233604T>C | CA380084163 | ARL14EP-DT,FSHB | c.194T>C (p.Ile65Thr) n.463+83286A>G n.284+83286A>G | |
11 | g.30233604T>G | CA380084161 | ARL14EP-DT,FSHB | c.194T>G (p.Ile65Ser) n.463+83286A>C n.284+83286A>C | |
11 | g.30233605C>A | CA473783035 | ARL14EP-DT,FSHB | c.195C>A (p.Ile65=) n.463+83285G>T n.284+83285G>T | |
11 | g.30233605C>G | CA380084164 | ARL14EP-DT,FSHB | c.195C>G (p.Ile65Met) n.463+83285G>C n.284+83285G>C | gnomAD v4 |
11 | g.30233605C>T | CA473783037 | ARL14EP-DT,FSHB | c.195C>T (p.Ile65=) n.463+83285G>A n.284+83285G>A | |
11 | g.30233606C>A | CA380084165 | ARL14EP-DT,FSHB | c.196C>A (p.Gln66Lys) n.463+83284G>T n.284+83284G>T | |
11 | g.30233606C>G | CA380084166 | ARL14EP-DT,FSHB | c.196C>G (p.Gln66Glu) n.463+83284G>C n.284+83284G>C | |
11 | g.30233606C>T | CA380084167 | ARL14EP-DT,FSHB | c.196C>T (p.Gln66Ter) n.463+83284G>A n.284+83284G>A | gnomAD v4 |
11 | g.30233607A>C | CA380084168 | ARL14EP-DT,FSHB | c.197A>C (p.Gln66Pro) n.463+83283T>G n.284+83283T>G | |
11 | g.30233607A>G | CA380084169 | ARL14EP-DT,FSHB | c.197A>G (p.Gln66Arg) n.463+83283T>C n.284+83283T>C | |
11 | g.30233607A>T | CA380084170 | ARL14EP-DT,FSHB | c.197A>T (p.Gln66Leu) n.463+83283T>A n.284+83283T>A | |
11 | g.30233608G>A | CA473783040 | ARL14EP-DT,FSHB | c.198G>A (p.Gln66=) n.463+83282C>T n.284+83282C>T | COSMIC |
11 | g.30233608G>C | CA380084171 | ARL14EP-DT,FSHB | c.198G>C (p.Gln66His) n.463+83282C>G n.284+83282C>G | |
11 | g.30233608G>T | CA380084172 | ARL14EP-DT,FSHB | c.198G>T (p.Gln66His) n.463+83282C>A n.284+83282C>A | |
11 | g.30233609A>C | CA380084173 | ARL14EP-DT,FSHB | c.199A>C (p.Lys67Gln) n.463+83281T>G n.284+83281T>G | |
11 | g.30233609A>G | CA380084174 | ARL14EP-DT,FSHB | c.199A>G (p.Lys67Glu) n.463+83281T>C n.284+83281T>C | gnomAD v4 |
11 | g.30233609A>T | CA380084175 | ARL14EP-DT,FSHB | c.199A>T (p.Lys67Ter) n.463+83281T>A n.284+83281T>A | |
11 | g.30233610A>C | CA380084178 | ARL14EP-DT,FSHB | c.200A>C (p.Lys67Thr) n.463+83280T>G n.284+83280T>G | |
11 | g.30233610A>G | CA380084177 | ARL14EP-DT,FSHB | c.200A>G (p.Lys67Arg) n.463+83280T>C n.284+83280T>C | gnomAD v4 |
11 | g.30233610A>T | CA380084176 | ARL14EP-DT,FSHB | c.200A>T (p.Lys67Ile) n.463+83280T>A n.284+83280T>A | |
11 | g.30233611A>C | CA380084179 | ARL14EP-DT,FSHB | c.201A>C (p.Lys67Asn) n.463+83279T>G n.284+83279T>G | |
11 | g.30233611A>G | CA473783044 | ARL14EP-DT,FSHB | c.201A>G (p.Lys67=) n.463+83279T>C n.284+83279T>C | |
11 | g.30233611A>T | CA380084180 | ARL14EP-DT,FSHB | c.201A>T (p.Lys67Asn) n.463+83279T>A n.284+83279T>A | |
11 | g.30233612A>C | CA380084181 | ARL14EP-DT,FSHB | c.202A>C (p.Thr68Pro) n.463+83278T>G n.284+83278T>G | |
11 | g.30233612A>G | CA380084182 | ARL14EP-DT,FSHB | c.202A>G (p.Thr68Ala) n.463+83278T>C n.284+83278T>C | |
11 | g.30233612A>T | CA380084183 | ARL14EP-DT,FSHB | c.202A>T (p.Thr68Ser) n.463+83278T>A n.284+83278T>A | COSMIC |
11 | g.30233613C>A | CA380084184 | ARL14EP-DT,FSHB | c.203C>A (p.Thr68Lys) n.463+83277G>T n.284+83277G>T | |
11 | g.30233613C>G | CA380084185 | ARL14EP-DT,FSHB | c.203C>G (p.Thr68Arg) n.463+83277G>C n.284+83277G>C | |
11 | g.30233613C>T | CA380084186 | ARL14EP-DT,FSHB | c.203C>T (p.Thr68Ile) n.463+83277G>A n.284+83277G>A | |
11 | g.30233614A= | CA1961322236 | ARL14EP-DT,FSHB | c.204A= (p.Thr68=) n.463+83276T= n.284+83276T= | |
11 | g.30233614A>C | CA473783048 | ARL14EP-DT,FSHB | c.204A>C (p.Thr68=) n.463+83276T>G n.284+83276T>G | |
11 | g.30233614A>G | CA5930779 | ARL14EP-DT,FSHB | c.204A>G (p.Thr68=) n.463+83276T>C n.284+83276T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |