| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26519093G>A | CA142803 | OTOF | c.244C>T (p.Arg82Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26519093G>C | CA346139784 | OTOF | c.244C>G (p.Arg82Gly) | |
| 2 | g.26519093G= | CA1239847763 | OTOF | c.244C= (p.Arg82=) | |
| 2 | g.26519093G>T | CA346139785 | OTOF | c.244C>A (p.Arg82Ser) | gnomAD v4 |
| 2 | g.26519093_26519094delinsAA | CA2740092766 | OTOF | c.243_244delinsTT (p.Arg82Cys) | |
| 2 | g.26519095_26519098dup | CA2658241349 | OTOF | c.241_244dup (p.Arg82LeufsTer18) | gnomAD v4 |
| 2 | g.26519094G>A | CA425209409 | OTOF | c.243C>T (p.Phe81=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26519094G>C | CA346139786 | OTOF | c.243C>G (p.Phe81Leu) | |
| 2 | g.26519094G= | CA1239847764 | OTOF | c.243C= (p.Phe81=) | |
| 2 | g.26519094G>T | CA1564738 | OTOF | c.243C>A (p.Phe81Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26519095A>C | CA346139787 | OTOF | c.242T>G (p.Phe81Cys) | |
| 2 | g.26519095A>G | CA346139788 | OTOF | c.242T>C (p.Phe81Ser) | |
| 2 | g.26519095A>T | CA346139789 | OTOF | c.242T>A (p.Phe81Tyr) | |
| 2 | g.26519096A>C | CA346139790 | OTOF | c.241T>G (p.Phe81Val) | |
| 2 | g.26519096A>G | CA346139791 | OTOF | c.241T>C (p.Phe81Leu) | |
| 2 | g.26519096A>T | CA346139792 | OTOF | c.241T>A (p.Phe81Ile) | |
| 2 | g.26519097G>A | CA425209410 | OTOF | c.240C>T (p.Thr80=) | gnomAD v4 |
| 2 | g.26519097G>C | CA425209411 | OTOF | c.240C>G (p.Thr80=) | |
| 2 | g.26519097G>T | CA425209412 | OTOF | c.240C>A (p.Thr80=) | |
| 2 | g.26519098G>A | CA346139795 | OTOF | c.239C>T (p.Thr80Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26519098G>C | CA346139794 | OTOF | c.239C>G (p.Thr80Ser) | |
| 2 | g.26519098G= | CA1239847765 | OTOF | c.239C= (p.Thr80=) | |
| 2 | g.26519098G>T | CA346139793 | OTOF | c.239C>A (p.Thr80Asn) | gnomAD v4 |
| 2 | g.26519099T>A | CA346139796 | OTOF | c.238A>T (p.Thr80Ser) | |
| 2 | g.26519099T>C | CA346139797 | OTOF | c.238A>G (p.Thr80Ala) | |
| 2 | g.26519099T>G | CA346139798 | OTOF | c.238A>C (p.Thr80Pro) | |
| 2 | g.26519100_26519117del | CA2658241350 | OTOF | c.228-7_238del | gnomAD v4 |
| 2 | g.26519100C>A | CA425209413 | OTOF | c.237G>T (p.Gly79=) | gnomAD v4 |
| 2 | g.26519100C= | CA1239847766 | OTOF | c.237G= (p.Gly79=) | |
| 2 | g.26519100C>G | CA425209414 | OTOF | c.237G>C (p.Gly79=) | gnomAD v4 |
| 2 | g.26519100C>T | CA142797 | OTOF | c.237G>A (p.Gly79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26519101C>A | CA346139799 | OTOF | c.236G>T (p.Gly79Val) | gnomAD v4 |
| 2 | g.26519101C>G | CA346139800 | OTOF | c.236G>C (p.Gly79Ala) | |
| 2 | g.26519101C>T | CA346139801 | OTOF | c.236G>A (p.Gly79Glu) | gnomAD v4 COSMIC |
| 2 | g.26519102C>A | CA346139802 | OTOF | c.235G>T (p.Gly79Trp) | gnomAD v4 |
| 2 | g.26519102C= | CA1239847767 | OTOF | c.235G= (p.Gly79=) | |
| 2 | g.26519102C>G | CA44437366 | OTOF | c.235G>C (p.Gly79Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26519102C>T | CA184557 | OTOF | c.235G>A (p.Gly79Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26519103G>A | CA1564739 | OTOF | c.234C>T (p.Ile78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26519103G>C | CA346139803 | OTOF | c.234C>G (p.Ile78Met) | |
| 2 | g.26519103G= | CA1239847768 | OTOF | c.234C= (p.Ile78=) | |
| 2 | g.26519103G>T | CA425209415 | OTOF | c.234C>A (p.Ile78=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26519104A= | CA1239847769 | OTOF | c.233T= (p.Ile78=) | |
| 2 | g.26519104A>C | CA346139805 | OTOF | c.233T>G (p.Ile78Ser) | |
| 2 | g.26519104A>G | CA1564740 | OTOF | c.233T>C (p.Ile78Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26519104A>T | CA346139804 | OTOF | c.233T>A (p.Ile78Asn) | |
| 2 | g.26519105T>A | CA346139806 | OTOF | c.232A>T (p.Ile78Phe) | |
| 2 | g.26519105T>C | CA346139807 | OTOF | c.232A>G (p.Ile78Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26519105T>G | CA346139808 | OTOF | c.232A>C (p.Ile78Leu) | |
| 2 | g.26519105T= | CA1239847770 | OTOF | c.232A= (p.Ile78=) |