| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26480871_26480886del | CA2576699683 | OTOF | c.1707_1722del (p.Leu570TrpfsTer4) c.1752_1767del (p.Leu585TrpfsTer4) | |
| 2 | g.26480871A= | CA1239827775 | OTOF | c.1718T= (p.Leu573=) c.1763T= (p.Leu588=) | |
| 2 | g.26480871A>C | CA345093 | OTOF | c.1718T>G (p.Leu573Arg) c.1763T>G (p.Leu588Arg) | ClinVar dbSNP |
| 2 | g.26480871A>G | CA346133155 | OTOF | c.1718T>C (p.Leu573Pro) c.1763T>C (p.Leu588Pro) | |
| 2 | g.26480871A>T | CA346133157 | OTOF | c.1718T>A (p.Leu573Gln) c.1763T>A (p.Leu588Gln) | |
| 2 | g.26480872G>A | CA425205973 | OTOF | c.1717C>T (p.Leu573=) c.1762C>T (p.Leu588=) | |
| 2 | g.26480872G>C | CA346133161 | OTOF | c.1717C>G (p.Leu573Val) c.1762C>G (p.Leu588Val) | gnomAD v4 |
| 2 | g.26480872G>T | CA346133163 | OTOF | c.1717C>A (p.Leu573Met) c.1762C>A (p.Leu588Met) | |
| 2 | g.26480873G>A | CA425205975 | OTOF | c.1716C>T (p.Gly572=) c.1761C>T (p.Gly587=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.26480873G>C | CA425205979 | OTOF | c.1716C>G (p.Gly572=) c.1761C>G (p.Gly587=) | |
| 2 | g.26480873G= | CA1239827777 | OTOF | c.1716C= (p.Gly572=) c.1761C= (p.Gly587=) | |
| 2 | g.26480873G>T | CA425205978 | OTOF | c.1716C>A (p.Gly572=) c.1761C>A (p.Gly587=) | |
| 2 | g.26480874C>A | CA346133166 | OTOF | c.1715G>T (p.Gly572Val) c.1760G>T (p.Gly587Val) | |
| 2 | g.26480874C>G | CA346133169 | OTOF | c.1715G>C (p.Gly572Ala) c.1760G>C (p.Gly587Ala) | gnomAD v4 |
| 2 | g.26480874C>T | CA346133171 | OTOF | c.1715G>A (p.Gly572Asp) c.1760G>A (p.Gly587Asp) | |
| 2 | g.26480875C>A | CA346133175 | OTOF | c.1714G>T (p.Gly572Cys) c.1759G>T (p.Gly587Cys) | ClinVar dbSNP |
| 2 | g.26480875C>G | CA346133179 | OTOF | c.1714G>C (p.Gly572Arg) c.1759G>C (p.Gly587Arg) | |
| 2 | g.26480875C>T | CA346133176 | OTOF | c.1714G>A (p.Gly572Ser) c.1759G>A (p.Gly587Ser) | |
| 2 | g.26480876C>A | CA425205984 | OTOF | c.1713G>T (p.Leu571=) c.1758G>T (p.Leu586=) | |
| 2 | g.26480876C= | CA1239827779 | OTOF | c.1713G= (p.Leu571=) c.1758G= (p.Leu586=) | |
| 2 | g.26480876C>G | CA425205986 | OTOF | c.1713G>C (p.Leu571=) c.1758G>C (p.Leu586=) | |
| 2 | g.26480876C>T | CA142760 | OTOF | c.1713G>A (p.Leu571=) c.1758G>A (p.Leu586=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26480877A= | CA1239827781 | OTOF | c.1712T= (p.Leu571=) c.1757T= (p.Leu586=) | |
| 2 | g.26480877A>C | CA346133186 | OTOF | c.1712T>G (p.Leu571Arg) c.1757T>G (p.Leu586Arg) | |
| 2 | g.26480877A>G | CA1564191 | OTOF | c.1712T>C (p.Leu571Pro) c.1757T>C (p.Leu586Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26480877A>T | CA346133189 | OTOF | c.1712T>A (p.Leu571Gln) c.1757T>A (p.Leu586Gln) | |
| 2 | g.26480878G>A | CA425205988 | OTOF | c.1711C>T (p.Leu571=) c.1756C>T (p.Leu586=) | |
| 2 | g.26480878G>C | CA346133192 | OTOF | c.1711C>G (p.Leu571Val) c.1756C>G (p.Leu586Val) | |
| 2 | g.26480878G>T | CA346133195 | OTOF | c.1711C>A (p.Leu571Met) c.1756C>A (p.Leu586Met) | |
| 2 | g.26480879_26480894dup | CA2658238262 | OTOF | c.1696_1711dup (p.Leu571ProfsTer19) c.1741_1756dup (p.Leu586ProfsTer19) | gnomAD v4 |
| 2 | g.26480879C>A | CA425205990 | OTOF | c.1710G>T (p.Leu570=) c.1755G>T (p.Leu585=) | gnomAD v4 |
| 2 | g.26480879C= | CA1239827783 | OTOF | c.1710G= (p.Leu570=) c.1755G= (p.Leu585=) | |
| 2 | g.26480879C>G | CA425205991 | OTOF | c.1710G>C (p.Leu570=) c.1755G>C (p.Leu585=) | |
| 2 | g.26480879C>T | CA425205992 | OTOF | c.1710G>A (p.Leu570=) c.1755G>A (p.Leu585=) | dbSNP gnomAD v2 |
| 2 | g.26480880A>C | CA346133199 | OTOF | c.1709T>G (p.Leu570Arg) c.1754T>G (p.Leu585Arg) | |
| 2 | g.26480880A>G | CA346133201 | OTOF | c.1709T>C (p.Leu570Pro) c.1754T>C (p.Leu585Pro) | |
| 2 | g.26480880A>T | CA346133204 | OTOF | c.1709T>A (p.Leu570Gln) c.1754T>A (p.Leu585Gln) | |
| 2 | g.26480881G>A | CA1564192 | OTOF | c.1708C>T (p.Leu570=) c.1753C>T (p.Leu585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26480881G>C | CA346133209 | OTOF | c.1708C>G (p.Leu570Val) c.1753C>G (p.Leu585Val) | |
| 2 | g.26480881G= | CA1239827785 | OTOF | c.1708C= (p.Leu570=) c.1753C= (p.Leu585=) | |
| 2 | g.26480881G>T | CA346133210 | OTOF | c.1708C>A (p.Leu570Met) c.1753C>A (p.Leu585Met) | gnomAD v4 |
| 2 | g.26480882G>A | CA425205993 | OTOF | c.1707C>T (p.Leu569=) c.1752C>T (p.Leu584=) | |
| 2 | g.26480882G>C | CA425205994 | OTOF | c.1707C>G (p.Leu569=) c.1752C>G (p.Leu584=) | |
| 2 | g.26480882G>T | CA425205996 | OTOF | c.1707C>A (p.Leu569=) c.1752C>A (p.Leu584=) | |
| 2 | g.26480883A= | CA1239827787 | OTOF | c.1706T= (p.Leu569=) c.1751T= (p.Leu584=) | |
| 2 | g.26480883A>C | CA346133213 | OTOF | c.1706T>G (p.Leu569Arg) c.1751T>G (p.Leu584Arg) | |
| 2 | g.26480883A>G | CA346133215 | OTOF | c.1706T>C (p.Leu569Pro) c.1751T>C (p.Leu584Pro) | |
| 2 | g.26480883A>T | CA346133218 | OTOF | c.1706T>A (p.Leu569His) c.1751T>A (p.Leu584His) | |
| 2 | g.26480884G>A | CA346133221 | OTOF | c.1705C>T (p.Leu569Phe) c.1750C>T (p.Leu584Phe) | gnomAD v4 |
| 2 | g.26480884G>C | CA346133223 | OTOF | c.1705C>G (p.Leu569Val) c.1750C>G (p.Leu584Val) | gnomAD v4 |