Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.26480862T>G | CA44400984 | OTOF | c.1727A>C (p.Glu576Ala) c.1772A>C (p.Glu591Ala) | dbSNP gnomAD v4 |
2 | g.26480862T= | CA1239827766 | OTOF | c.1727A= (p.Glu576=) c.1772A= (p.Glu591=) | |
2 | g.26480863C>A | CA346133122 | OTOF | c.1726G>T (p.Glu576Ter) c.1771G>T (p.Glu591Ter) | |
2 | g.26480863C>G | CA346133121 | OTOF | c.1726G>C (p.Glu576Gln) c.1771G>C (p.Glu591Gln) | |
2 | g.26480863C>T | CA346133119 | OTOF | c.1726G>A (p.Glu576Lys) c.1771G>A (p.Glu591Lys) | |
2 | g.26480864C>A | CA425205957 | OTOF | c.1725G>T (p.Val575=) c.1770G>T (p.Val590=) | |
2 | g.26480864C= | CA1239827769 | OTOF | c.1725G= (p.Val575=) c.1770G= (p.Val590=) | |
2 | g.26480864C>G | CA425205958 | OTOF | c.1725G>C (p.Val575=) c.1770G>C (p.Val590=) | |
2 | g.26480864C>T | CA425205959 | OTOF | c.1725G>A (p.Val575=) c.1770G>A (p.Val590=) | ClinVar dbSNP |
2 | g.26480865A= | CA1239827770 | OTOF | c.1724T= (p.Val575=) c.1769T= (p.Val590=) | |
2 | g.26480865A>C | CA346133125 | OTOF | c.1724T>G (p.Val575Gly) c.1769T>G (p.Val590Gly) | |
2 | g.26480865A>G | CA44400986 | OTOF | c.1724T>C (p.Val575Ala) c.1769T>C (p.Val590Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480865A>T | CA346133128 | OTOF | c.1724T>A (p.Val575Glu) c.1769T>A (p.Val590Glu) | |
2 | g.26480866C>A | CA346133131 | OTOF | c.1723G>T (p.Val575Leu) c.1768G>T (p.Val590Leu) | |
2 | g.26480866C= | CA1239827772 | OTOF | c.1723G= (p.Val575=) c.1768G= (p.Val590=) | |
2 | g.26480866C>G | CA346133134 | OTOF | c.1723G>C (p.Val575Leu) c.1768G>C (p.Val590Leu) | |
2 | g.26480866C>T | CA142762 | OTOF | c.1723G>A (p.Val575Met) c.1768G>A (p.Val590Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480867A>C | CA425205963 | OTOF | c.1722T>G (p.Ala574=) c.1767T>G (p.Ala589=) | |
2 | g.26480867A>G | CA425205964 | OTOF | c.1722T>C (p.Ala574=) c.1767T>C (p.Ala589=) | dbSNP |
2 | g.26480867A>T | CA425205962 | OTOF | c.1722T>A (p.Ala574=) c.1767T>A (p.Ala589=) | |
2 | g.26480871_26480886del | CA2576699683 | OTOF | c.1707_1722del (p.Leu570TrpfsTer4) c.1752_1767del (p.Leu585TrpfsTer4) | |
2 | g.26480868G>A | CA346133138 | OTOF | c.1721C>T (p.Ala574Val) c.1766C>T (p.Ala589Val) | |
2 | g.26480868G>C | CA346133144 | OTOF | c.1721C>G (p.Ala574Gly) c.1766C>G (p.Ala589Gly) | |
2 | g.26480868G>T | CA346133141 | OTOF | c.1721C>A (p.Ala574Asp) c.1766C>A (p.Ala589Asp) | |
2 | g.26480869C>A | CA346133147 | OTOF | c.1720G>T (p.Ala574Ser) c.1765G>T (p.Ala589Ser) | |
2 | g.26480869C>G | CA346133149 | OTOF | c.1720G>C (p.Ala574Pro) c.1765G>C (p.Ala589Pro) | |
2 | g.26480869C>T | CA346133152 | OTOF | c.1720G>A (p.Ala574Thr) c.1765G>A (p.Ala589Thr) | |
2 | g.26480870C>A | CA425205971 | OTOF | c.1719G>T (p.Leu573=) c.1764G>T (p.Leu588=) | |
2 | g.26480870C>G | CA425205969 | OTOF | c.1719G>C (p.Leu573=) c.1764G>C (p.Leu588=) | |
2 | g.26480870C>T | CA425205970 | OTOF | c.1719G>A (p.Leu573=) c.1764G>A (p.Leu588=) | gnomAD v4 |
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=) |