Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
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=) |