| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26476308_26476310delinsTCC | CA1239828229 | OTOF | c.2684_2686delinsGGA (p.Gly895=) c.443_445delinsGGA (p.Gly148=) c.614_616delinsGGA (p.Gly205=) c.2729_2731delinsGGA (p.Gly910=) | |
| 2 | g.26476309C>A | CA425359863 | OTOF | c.2685G>T (p.Gly895=) c.444G>T (p.Gly148=) c.615G>T (p.Gly205=) c.2730G>T (p.Gly910=) | |
| 2 | g.26476309C= | CA1239828240 | OTOF | c.2685G= (p.Gly895=) c.444G= (p.Gly148=) c.615G= (p.Gly205=) c.2730G= (p.Gly910=) | |
| 2 | g.26476309C>G | CA425359866 | OTOF | c.2685G>C (p.Gly895=) c.444G>C (p.Gly148=) c.615G>C (p.Gly205=) c.2730G>C (p.Gly910=) | |
| 2 | g.26476309C>T | CA425359867 | OTOF | c.2685G>A (p.Gly895=) c.444G>A (p.Gly148=) c.615G>A (p.Gly205=) c.2730G>A (p.Gly910=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476310_26476311del | CA345108 | OTOF | c.2684_2685del (p.Gly895GlufsTer?) c.443_444del (p.Gly148GlufsTer?) c.614_615del (p.Gly205GlufsTer?) c.2729_2730del (p.Gly910GlufsTer?) | ClinVar dbSNP |
| 2 | g.26476310C>A | CA346116880 | OTOF | c.2684G>T (p.Gly895Val) c.443G>T (p.Gly148Val) c.614G>T (p.Gly205Val) c.2729G>T (p.Gly910Val) | |
| 2 | g.26476310C= | CA1239828246 | OTOF | c.2684G= (p.Gly895=) c.443G= (p.Gly148=) c.614G= (p.Gly205=) c.2729G= (p.Gly910=) | |
| 2 | g.26476310C>G | CA346116884 | OTOF | c.2684G>C (p.Gly895Ala) c.443G>C (p.Gly148Ala) c.614G>C (p.Gly205Ala) c.2729G>C (p.Gly910Ala) | |
| 2 | g.26476310C>T | CA44398004 | OTOF | c.2684G>A (p.Gly895Glu) c.443G>A (p.Gly148Glu) c.614G>A (p.Gly205Glu) c.2729G>A (p.Gly910Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26476311C>A | CA346116892 | OTOF | c.2683G>T (p.Gly895Trp) c.442G>T (p.Gly148Trp) c.613G>T (p.Gly205Trp) c.2728G>T (p.Gly910Trp) | |
| 2 | g.26476311C= | CA1239828249 | OTOF | c.2683G= (p.Gly895=) c.442G= (p.Gly148=) c.613G= (p.Gly205=) c.2728G= (p.Gly910=) | |
| 2 | g.26476311C>G | CA346116895 | OTOF | c.2683G>C (p.Gly895Arg) c.442G>C (p.Gly148Arg) c.613G>C (p.Gly205Arg) c.2728G>C (p.Gly910Arg) | |
| 2 | g.26476311C>T | CA346116897 | OTOF | c.2683G>A (p.Gly895Arg) c.442G>A (p.Gly148Arg) c.613G>A (p.Gly205Arg) c.2728G>A (p.Gly910Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476312T>A | CA425359873 | OTOF | c.2682A>T (p.Pro894=) c.441A>T (p.Pro147=) c.612A>T (p.Pro204=) c.2727A>T (p.Pro909=) | |
| 2 | g.26476312T>C | CA425359874 | OTOF | c.2682A>G (p.Pro894=) c.441A>G (p.Pro147=) c.612A>G (p.Pro204=) c.2727A>G (p.Pro909=) | |
| 2 | g.26476312T>G | CA425359875 | OTOF | c.2682A>C (p.Pro894=) c.441A>C (p.Pro147=) c.612A>C (p.Pro204=) c.2727A>C (p.Pro909=) | |
| 2 | g.26476313G>A | CA346116900 | OTOF | c.2681C>T (p.Pro894Leu) c.440C>T (p.Pro147Leu) c.611C>T (p.Pro204Leu) c.2726C>T (p.Pro909Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26476313G>C | CA346116904 | OTOF | c.2681C>G (p.Pro894Arg) c.440C>G (p.Pro147Arg) c.611C>G (p.Pro204Arg) c.2726C>G (p.Pro909Arg) | |
| 2 | g.26476313G= | CA1239828252 | OTOF | c.2681C= (p.Pro894=) c.440C= (p.Pro147=) c.611C= (p.Pro204=) c.2726C= (p.Pro909=) | |
| 2 | g.26476313G>T | CA346116920 | OTOF | c.2681C>A (p.Pro894Gln) c.440C>A (p.Pro147Gln) c.611C>A (p.Pro204Gln) c.2726C>A (p.Pro909Gln) | gnomAD v4 |
| 2 | g.26476314G>A | CA346116923 | OTOF | c.2680C>T (p.Pro894Ser) c.439C>T (p.Pro147Ser) c.610C>T (p.Pro204Ser) c.2725C>T (p.Pro909Ser) | gnomAD v4 |
| 2 | g.26476314G>C | CA346116928 | OTOF | c.2680C>G (p.Pro894Ala) c.439C>G (p.Pro147Ala) c.610C>G (p.Pro204Ala) c.2725C>G (p.Pro909Ala) | |
| 2 | g.26476314G>T | CA346116930 | OTOF | c.2680C>A (p.Pro894Thr) c.439C>A (p.Pro147Thr) c.610C>A (p.Pro204Thr) c.2725C>A (p.Pro909Thr) | gnomAD v4 |
| 2 | g.26476315C>A | CA1563797 | OTOF | c.2679G>T (p.Leu893=) c.438G>T (p.Leu146=) c.609G>T (p.Leu203=) c.2724G>T (p.Leu908=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476315C= | CA1239828255 | OTOF | c.2679G= (p.Leu893=) c.438G= (p.Leu146=) c.609G= (p.Leu203=) c.2724G= (p.Leu908=) | |
| 2 | g.26476315C>G | CA425359885 | OTOF | c.2679G>C (p.Leu893=) c.438G>C (p.Leu146=) c.609G>C (p.Leu203=) c.2724G>C (p.Leu908=) | |
| 2 | g.26476315C>T | CA425359884 | OTOF | c.2679G>A (p.Leu893=) c.438G>A (p.Leu146=) c.609G>A (p.Leu203=) c.2724G>A (p.Leu908=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26476316A>C | CA346116943 | OTOF | c.2678T>G (p.Leu893Arg) c.437T>G (p.Leu146Arg) c.608T>G (p.Leu203Arg) c.2723T>G (p.Leu908Arg) | |
| 2 | g.26476316A>G | CA346116947 | OTOF | c.2678T>C (p.Leu893Pro) c.437T>C (p.Leu146Pro) c.608T>C (p.Leu203Pro) c.2723T>C (p.Leu908Pro) | |
| 2 | g.26476316A>T | CA346116948 | OTOF | c.2678T>A (p.Leu893Gln) c.437T>A (p.Leu146Gln) c.608T>A (p.Leu203Gln) c.2723T>A (p.Leu908Gln) | |
| 2 | g.26476317G>A | CA425359889 | OTOF | c.2677C>T (p.Leu893=) c.436C>T (p.Leu146=) c.607C>T (p.Leu203=) c.2722C>T (p.Leu908=) | dbSNP |
| 2 | g.26476317G>C | CA346116949 | OTOF | c.2677C>G (p.Leu893Val) c.436C>G (p.Leu146Val) c.607C>G (p.Leu203Val) c.2722C>G (p.Leu908Val) | |
| 2 | g.26476317G>T | CA346116950 | OTOF | c.2677C>A (p.Leu893Met) c.436C>A (p.Leu146Met) c.607C>A (p.Leu203Met) c.2722C>A (p.Leu908Met) | gnomAD v4 |
| 2 | g.26476318C>A | CA346116955 | OTOF | c.2677-1G>T (n.2677-1G>T) c.436-1G>T (n.436-1G>T) c.607-1G>T (n.607-1G>T) c.2722-1G>T (n.2722-1G>T) | dbSNP gnomAD v4 |
| 2 | g.26476318C>G | CA346116959 | OTOF | c.2677-1G>C (n.2677-1G>C) c.436-1G>C (n.436-1G>C) c.607-1G>C (n.607-1G>C) c.2722-1G>C (n.2722-1G>C) | ClinVar gnomAD v4 |
| 2 | g.26476318C>T | CA346116964 | OTOF | c.2677-1G>A (n.2677-1G>A) c.436-1G>A (n.436-1G>A) c.607-1G>A (n.607-1G>A) c.2722-1G>A (n.2722-1G>A) | gnomAD v4 |
| 2 | g.26476319T>A | CA346116966 | OTOF | c.2677-2A>T (n.2677-2A>T) c.436-2A>T (n.436-2A>T) c.607-2A>T (n.607-2A>T) c.2722-2A>T (n.2722-2A>T) | |
| 2 | g.26476319T>C | CA16043390 | OTOF | c.2677-2A>G (n.2677-2A>G) c.436-2A>G (n.436-2A>G) c.607-2A>G (n.607-2A>G) c.2722-2A>G (n.2722-2A>G) | ClinVar dbSNP |
| 2 | g.26476319T>G | CA346116967 | OTOF | c.2677-2A>C (n.2677-2A>C) c.436-2A>C (n.436-2A>C) c.607-2A>C (n.607-2A>C) c.2722-2A>C (n.2722-2A>C) | |
| 2 | g.26476319T= | CA1239828264 | OTOF | c.2677-2A= (n.2677-2A=) c.436-2A= (n.436-2A=) c.607-2A= (n.607-2A=) c.2722-2A= (n.2722-2A=) | |
| 2 | g.26476320G>A | CA531761822 | OTOF | c.2677-3C>T (n.2677-3C>T) c.436-3C>T (n.436-3C>T) c.607-3C>T (n.607-3C>T) c.2722-3C>T (n.2722-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476320G>C | CA2658237338 | OTOF | c.2677-3C>G (n.2677-3C>G) c.436-3C>G (n.436-3C>G) c.607-3C>G (n.607-3C>G) c.2722-3C>G (n.2722-3C>G) | gnomAD v4 |
| 2 | g.26476320G= | CA1239828267 | OTOF | c.2677-3C= (n.2677-3C=) c.436-3C= (n.436-3C=) c.607-3C= (n.607-3C=) c.2722-3C= (n.2722-3C=) | |
| 2 | g.26476320G>T | CA2658237339 | OTOF | c.2677-3C>A (n.2677-3C>A) c.436-3C>A (n.436-3C>A) c.607-3C>A (n.607-3C>A) c.2722-3C>A (n.2722-3C>A) | gnomAD v4 |
| 2 | g.26476324dup | CA1563798 | OTOF | c.2677-3dup (n.2677-3dup) c.436-3dup (n.436-3dup) c.607-3dup (n.607-3dup) c.2722-3dup (n.2722-3dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26476324del | CA2658237336 | OTOF | c.2677-3del (n.2677-3del) c.436-3del (n.436-3del) c.607-3del (n.607-3del) c.2722-3del (n.2722-3del) | dbSNP gnomAD v4 |
| 2 | g.26476321G>A | CA2576699422 | OTOF | c.2677-4C>T (n.2677-4C>T) c.436-4C>T (n.436-4C>T) c.607-4C>T (n.607-4C>T) c.2722-4C>T (n.2722-4C>T) | |
| 2 | g.26476321G>T | CA2658237341 | OTOF | c.2677-4C>A (n.2677-4C>A) c.436-4C>A (n.436-4C>A) c.607-4C>A (n.607-4C>A) c.2722-4C>A (n.2722-4C>A) | gnomAD v4 |
| 2 | g.26476322G>C | CA2658237343 | OTOF | c.2677-5C>G (n.2677-5C>G) c.436-5C>G (n.436-5C>G) c.607-5C>G (n.607-5C>G) c.2722-5C>G (n.2722-5C>G) | gnomAD v4 |