| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26480848_26480849delinsAG | CA1239827753 | OTOF | c.1740_1741delinsCT (p.Thr580=) c.1785_1786delinsCT (p.Thr595=) | |
| 2 | g.26480849G>A | CA425205933 | OTOF | c.1740C>T (p.Thr580=) c.1785C>T (p.Thr595=) | |
| 2 | g.26480849G>C | CA425205934 | OTOF | c.1740C>G (p.Thr580=) c.1785C>G (p.Thr595=) | ClinVar |
| 2 | g.26480849G>T | CA425205935 | OTOF | c.1740C>A (p.Thr580=) c.1785C>A (p.Thr595=) | |
| 2 | g.26480850del | CA345095 | OTOF | c.1740del (p.Ser581ProfsTer?) c.1785del (p.Ser596ProfsTer?) | ClinVar dbSNP |
| 2 | g.26480850G>A | CA346133043 | OTOF | c.1739C>T (p.Thr580Ile) c.1784C>T (p.Thr595Ile) | |
| 2 | g.26480850G>C | CA346133045 | OTOF | c.1739C>G (p.Thr580Ser) c.1784C>G (p.Thr595Ser) | gnomAD v4 |
| 2 | g.26480850G>T | CA346133048 | OTOF | c.1739C>A (p.Thr580Asn) c.1784C>A (p.Thr595Asn) | |
| 2 | g.26480851T>A | CA346133051 | OTOF | c.1738A>T (p.Thr580Ser) c.1783A>T (p.Thr595Ser) | |
| 2 | g.26480851T>C | CA346133053 | OTOF | c.1738A>G (p.Thr580Ala) c.1783A>G (p.Thr595Ala) | |
| 2 | g.26480851T>G | CA346133055 | OTOF | c.1738A>C (p.Thr580Pro) c.1783A>C (p.Thr595Pro) | dbSNP |
| 2 | g.26480851T= | CA1239827755 | OTOF | c.1738A= (p.Thr580=) c.1783A= (p.Thr595=) | |
| 2 | g.26480852G>A | CA425205936 | OTOF | c.1737C>T (p.Asp579=) c.1782C>T (p.Asp594=) | |
| 2 | g.26480852G>C | CA346133058 | OTOF | c.1737C>G (p.Asp579Glu) c.1782C>G (p.Asp594Glu) | |
| 2 | g.26480852G>T | CA346133060 | OTOF | c.1737C>A (p.Asp579Glu) c.1782C>A (p.Asp594Glu) | |
| 2 | g.26480853T>A | CA346133065 | OTOF | c.1736A>T (p.Asp579Val) c.1781A>T (p.Asp594Val) | dbSNP |
| 2 | g.26480853T>C | CA346133067 | OTOF | c.1736A>G (p.Asp579Gly) c.1781A>G (p.Asp594Gly) | |
| 2 | g.26480853T>G | CA346133070 | OTOF | c.1736A>C (p.Asp579Ala) c.1781A>C (p.Asp594Ala) | |
| 2 | g.26480853T= | CA1239827756 | OTOF | c.1736A= (p.Asp579=) c.1781A= (p.Asp594=) | |
| 2 | g.26480854C>A | CA346133072 | OTOF | c.1735G>T (p.Asp579Tyr) c.1780G>T (p.Asp594Tyr) | |
| 2 | g.26480854C>G | CA346133077 | OTOF | c.1735G>C (p.Asp579His) c.1780G>C (p.Asp594His) | gnomAD v4 |
| 2 | g.26480854C>T | CA346133074 | OTOF | c.1735G>A (p.Asp579Asn) c.1780G>A (p.Asp594Asn) | |
| 2 | g.26480855T>A | CA425205941 | OTOF | c.1734A>T (p.Val578=) c.1779A>T (p.Val593=) | |
| 2 | g.26480855T>C | CA425205942 | OTOF | c.1734A>G (p.Val578=) c.1779A>G (p.Val593=) | |
| 2 | g.26480855T>G | CA425205943 | OTOF | c.1734A>C (p.Val578=) c.1779A>C (p.Val593=) | |
| 2 | g.26480856A= | CA1239827757 | OTOF | c.1733T= (p.Val578=) c.1778T= (p.Val593=) | |
| 2 | g.26480856A>C | CA346133079 | OTOF | c.1733T>G (p.Val578Gly) c.1778T>G (p.Val593Gly) | |
| 2 | g.26480856A>G | CA346133080 | OTOF | c.1733T>C (p.Val578Ala) c.1778T>C (p.Val593Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26480856A>T | CA346133081 | OTOF | c.1733T>A (p.Val578Glu) c.1778T>A (p.Val593Glu) | |
| 2 | g.26480857C>A | CA346133083 | OTOF | c.1732G>T (p.Val578Leu) c.1777G>T (p.Val593Leu) | |
| 2 | g.26480857C= | CA1239827759 | OTOF | c.1732G= (p.Val578=) c.1777G= (p.Val593=) | |
| 2 | g.26480857C>G | CA1564189 | OTOF | c.1732G>C (p.Val578Leu) c.1777G>C (p.Val593Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26480857C>T | CA346133086 | OTOF | c.1732G>A (p.Val578Ile) c.1777G>A (p.Val593Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26480858G>A | CA425205950 | OTOF | c.1731C>T (p.Ile577=) c.1776C>T (p.Ile592=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26480858G>C | CA346133089 | OTOF | c.1731C>G (p.Ile577Met) c.1776C>G (p.Ile592Met) | |
| 2 | g.26480858G= | CA1239827761 | OTOF | c.1731C= (p.Ile577=) c.1776C= (p.Ile592=) | |
| 2 | g.26480858G>T | CA425205951 | OTOF | c.1731C>A (p.Ile577=) c.1776C>A (p.Ile592=) | |
| 2 | g.26480859A>C | CA346133093 | OTOF | c.1730T>G (p.Ile577Ser) c.1775T>G (p.Ile592Ser) | |
| 2 | g.26480859A>G | CA346133096 | OTOF | c.1730T>C (p.Ile577Thr) c.1775T>C (p.Ile592Thr) | |
| 2 | g.26480859A>T | CA346133098 | OTOF | c.1730T>A (p.Ile577Asn) c.1775T>A (p.Ile592Asn) | |
| 2 | g.26480860T>A | CA346133103 | OTOF | c.1729A>T (p.Ile577Phe) c.1774A>T (p.Ile592Phe) | dbSNP gnomAD v4 |
| 2 | g.26480860T>C | CA346133105 | OTOF | c.1729A>G (p.Ile577Val) c.1774A>G (p.Ile592Val) | |
| 2 | g.26480860T>G | CA346133101 | OTOF | c.1729A>C (p.Ile577Leu) c.1774A>C (p.Ile592Leu) | |
| 2 | g.26480860T= | CA1239827763 | OTOF | c.1729A= (p.Ile577=) c.1774A= (p.Ile592=) | |
| 2 | g.26480861C>A | CA346133107 | OTOF | c.1728G>T (p.Glu576Asp) c.1773G>T (p.Glu591Asp) | gnomAD v4 |
| 2 | g.26480861C= | CA1239827765 | OTOF | c.1728G= (p.Glu576=) c.1773G= (p.Glu591=) | |
| 2 | g.26480861C>G | CA346133110 | OTOF | c.1728G>C (p.Glu576Asp) c.1773G>C (p.Glu591Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26480861C>T | CA425205955 | OTOF | c.1728G>A (p.Glu576=) c.1773G>A (p.Glu591=) | |
| 2 | g.26480862T>A | CA346133113 | OTOF | c.1727A>T (p.Glu576Val) c.1772A>T (p.Glu591Val) | |
| 2 | g.26480862T>C | CA1564190 | OTOF | c.1727A>G (p.Glu576Gly) c.1772A>G (p.Glu591Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |