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.26480879_26480894dup | CA2658238262 | OTOF | c.1696_1711dup (p.Leu571ProfsTer19) c.1741_1756dup (p.Leu586ProfsTer19) | 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 |
2 | g.26480884G>T | CA346133226 | OTOF | c.1705C>A (p.Leu569Ile) c.1750C>A (p.Leu584Ile) | gnomAD v4 |
2 | g.26480884_26480885dup | CA1239827788 | OTOF | c.1704_1705dup (p.Leu569ArgfsTer11) c.1749_1750dup (p.Leu584ArgfsTer11) | dbSNP gnomAD v4 |
2 | g.26480885C>A | CA425205997 | OTOF | c.1704G>T (p.Arg568=) c.1749G>T (p.Arg583=) | |
2 | g.26480885C>G | CA425205998 | OTOF | c.1704G>C (p.Arg568=) c.1749G>C (p.Arg583=) | |
2 | g.26480885C>T | CA425205999 | OTOF | c.1704G>A (p.Arg568=) c.1749G>A (p.Arg583=) | |
2 | g.26480886C>A | CA346133230 | OTOF | c.1703G>T (p.Arg568Leu) c.1748G>T (p.Arg583Leu) | |
2 | g.26480886C= | CA1239827790 | OTOF | c.1703G= (p.Arg568=) c.1748G= (p.Arg583=) | |
2 | g.26480886C>G | CA346133233 | OTOF | c.1703G>C (p.Arg568Pro) c.1748G>C (p.Arg583Pro) | gnomAD v4 |
2 | g.26480886C>T | CA142758 | OTOF | c.1703G>A (p.Arg568Gln) c.1748G>A (p.Arg583Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480886_26480887delinsCG | CA1239827791 | OTOF | c.1702_1703delinsCG (p.Arg568=) c.1747_1748delinsCG (p.Arg583=) | |
2 | g.26480887G>A | CA1564194 | OTOF | c.1702C>T (p.Arg568Trp) c.1747C>T (p.Arg583Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480887G>C | CA346133240 | OTOF | c.1702C>G (p.Arg568Gly) c.1747C>G (p.Arg583Gly) | |
2 | g.26480887G= | CA1239827793 | OTOF | c.1702C= (p.Arg568=) c.1747C= (p.Arg583=) | |
2 | g.26480887G>T | CA425206000 | OTOF | c.1702C>A (p.Arg568=) c.1747C>A (p.Arg583=) | gnomAD v4 |
2 | g.26480889del | CA1564193 | OTOF | c.1702del (p.Arg568GlyfsTer11) c.1747del (p.Arg583GlyfsTer11) | dbSNP ExAC |
2 | g.26480888G>A | CA425206001 | OTOF | c.1701C>T (p.Ala567=) c.1746C>T (p.Ala582=) | |
2 | g.26480888G>C | CA425206004 | OTOF | c.1701C>G (p.Ala567=) c.1746C>G (p.Ala582=) | |
2 | g.26480888G>T | CA425206002 | OTOF | c.1701C>A (p.Ala567=) c.1746C>A (p.Ala582=) | |
2 | g.26480889G>A | CA346133248 | OTOF | c.1700C>T (p.Ala567Val) c.1745C>T (p.Ala582Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480889G>C | CA346133250 | OTOF | c.1700C>G (p.Ala567Gly) c.1745C>G (p.Ala582Gly) | |
2 | g.26480889G= | CA1239827796 | OTOF | c.1700C= (p.Ala567=) c.1745C= (p.Ala582=) | |
2 | g.26480889G>T | CA1564195 | OTOF | c.1700C>A (p.Ala567Asp) c.1745C>A (p.Ala582Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480889_26480890delinsGC | CA1239827795 | OTOF | c.1699_1700delinsGC (p.Ala567=) c.1744_1745delinsGC (p.Ala582=) | |
2 | g.26480890C>A | CA346133251 | OTOF | c.1699G>T (p.Ala567Ser) c.1744G>T (p.Ala582Ser) | |
2 | g.26480890C= | CA1239827799 | OTOF | c.1699G= (p.Ala567=) c.1744G= (p.Ala582=) | |
2 | g.26480890C>G | CA346133252 | OTOF | c.1699G>C (p.Ala567Pro) c.1744G>C (p.Ala582Pro) | |
2 | g.26480890C>T | CA1564196 | OTOF | c.1699G>A (p.Ala567Thr) c.1744G>A (p.Ala582Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480892del | CA531762003 | OTOF | c.1699del (p.Ala567ProfsTer12) c.1744del (p.Ala582ProfsTer12) | dbSNP gnomAD v2 |
2 | g.26480891C>A | CA425206008 | OTOF | c.1698G>T (p.Arg566=) c.1743G>T (p.Arg581=) | |
2 | g.26480891C= | CA1239827801 | OTOF | c.1698G= (p.Arg566=) c.1743G= (p.Arg581=) | |
2 | g.26480891C>G | CA425206007 | OTOF | c.1698G>C (p.Arg566=) c.1743G>C (p.Arg581=) | COSMIC |
2 | g.26480891C>T | CA425206006 | OTOF | c.1698G>A (p.Arg566=) c.1743G>A (p.Arg581=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480892C>A | CA346133257 | OTOF | c.1697G>T (p.Arg566Leu) c.1742G>T (p.Arg581Leu) | |
2 | g.26480892C= | CA1239827802 | OTOF | c.1697G= (p.Arg566=) c.1742G= (p.Arg581=) | |
2 | g.26480892C>G | CA346133259 | OTOF | c.1697G>C (p.Arg566Pro) c.1742G>C (p.Arg581Pro) | ClinVar |
2 | g.26480892C>T | CA1564197 | OTOF | c.1697G>A (p.Arg566Gln) c.1742G>A (p.Arg581Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480893G>A | CA1564198 | OTOF | c.1696C>T (p.Arg566Trp) c.1741C>T (p.Arg581Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480893G>C | CA346133270 | OTOF | c.1696C>G (p.Arg566Gly) c.1741C>G (p.Arg581Gly) | |
2 | g.26480893G= | CA1239827805 | OTOF | c.1696C= (p.Arg566=) c.1741C= (p.Arg581=) |