Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26480838T>A | CA346132981 | OTOF | c.1751A>T (p.Glu584Val) c.1796A>T (p.Glu599Val) | |
2 | g.26480838T>C | CA346132984 | OTOF | c.1751A>G (p.Glu584Gly) c.1796A>G (p.Glu599Gly) | |
2 | g.26480838T>G | CA346132986 | OTOF | c.1751A>C (p.Glu584Ala) c.1796A>C (p.Glu599Ala) | |
2 | g.26480839C>A | CA346132989 | OTOF | c.1750G>T (p.Glu584Ter) c.1795G>T (p.Glu599Ter) | |
2 | g.26480839C= | CA1239827746 | OTOF | c.1750G= (p.Glu584=) c.1795G= (p.Glu599=) | |
2 | g.26480839C>G | CA346132991 | OTOF | c.1750G>C (p.Glu584Gln) c.1795G>C (p.Glu599Gln) | |
2 | g.26480839C>T | CA1564187 | OTOF | c.1750G>A (p.Glu584Lys) c.1795G>A (p.Glu599Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480840A>C | CA425205918 | OTOF | c.1749T>G (p.Pro583=) c.1794T>G (p.Pro598=) | |
2 | g.26480840A>G | CA425205919 | OTOF | c.1749T>C (p.Pro583=) c.1794T>C (p.Pro598=) | gnomAD v4 |
2 | g.26480840A>T | CA425205920 | OTOF | c.1749T>A (p.Pro583=) c.1794T>A (p.Pro598=) | |
2 | g.26480841G>A | CA346132996 | OTOF | c.1748C>T (p.Pro583Leu) c.1793C>T (p.Pro598Leu) | |
2 | g.26480841G>C | CA346133001 | OTOF | c.1748C>G (p.Pro583Arg) c.1793C>G (p.Pro598Arg) | |
2 | g.26480841G>T | CA346132999 | OTOF | c.1748C>A (p.Pro583His) c.1793C>A (p.Pro598His) | gnomAD v4 |
2 | g.26480842G>A | CA346133005 | OTOF | c.1747C>T (p.Pro583Ser) c.1792C>T (p.Pro598Ser) | COSMIC |
2 | g.26480842G>C | CA1564188 | OTOF | c.1747C>G (p.Pro583Ala) c.1792C>G (p.Pro598Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480842G= | CA1239827748 | OTOF | c.1747C= (p.Pro583=) c.1792C= (p.Pro598=) | |
2 | g.26480842G>T | CA346133007 | OTOF | c.1747C>A (p.Pro583Thr) c.1792C>A (p.Pro598Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480843G>A | CA425205924 | OTOF | c.1746C>T (p.Asn582=) c.1791C>T (p.Asn597=) | ClinVar |
2 | g.26480843G>C | CA346133008 | OTOF | c.1746C>G (p.Asn582Lys) c.1791C>G (p.Asn597Lys) | |
2 | g.26480843G>T | CA346133009 | OTOF | c.1746C>A (p.Asn582Lys) c.1791C>A (p.Asn597Lys) | |
2 | g.26480844T>A | CA346133011 | OTOF | c.1745A>T (p.Asn582Ile) c.1790A>T (p.Asn597Ile) | |
2 | g.26480844T>C | CA346133014 | OTOF | c.1745A>G (p.Asn582Ser) c.1790A>G (p.Asn597Ser) | gnomAD v4 |
2 | g.26480844T>G | CA346133016 | OTOF | c.1745A>C (p.Asn582Thr) c.1790A>C (p.Asn597Thr) | |
2 | g.26480845T>A | CA346133020 | OTOF | c.1744A>T (p.Asn582Tyr) c.1789A>T (p.Asn597Tyr) | |
2 | g.26480845T>C | CA346133022 | OTOF | c.1744A>G (p.Asn582Asp) c.1789A>G (p.Asn597Asp) | |
2 | g.26480845T>G | CA346133024 | OTOF | c.1744A>C (p.Asn582His) c.1789A>C (p.Asn597His) | |
2 | g.26480846G>A | CA425205929 | OTOF | c.1743C>T (p.Ser581=) c.1788C>T (p.Ser596=) | |
2 | g.26480846G>C | CA425205930 | OTOF | c.1743C>G (p.Ser581=) c.1788C>G (p.Ser596=) | |
2 | g.26480846G>T | CA425205931 | OTOF | c.1743C>A (p.Ser581=) c.1788C>A (p.Ser596=) | |
2 | g.26480847G>A | CA346133028 | OTOF | c.1742C>T (p.Ser581Phe) c.1787C>T (p.Ser596Phe) | |
2 | g.26480847G>C | CA346133033 | OTOF | c.1742C>G (p.Ser581Cys) c.1787C>G (p.Ser596Cys) | dbSNP gnomAD v4 |
2 | g.26480847G= | CA1239827750 | OTOF | c.1742C= (p.Ser581=) c.1787C= (p.Ser596=) | |
2 | g.26480847G>T | CA346133030 | OTOF | c.1742C>A (p.Ser581Tyr) c.1787C>A (p.Ser596Tyr) | |
2 | g.26480848A>C | CA346133035 | OTOF | c.1741T>G (p.Ser581Ala) c.1786T>G (p.Ser596Ala) | |
2 | g.26480848A>G | CA346133039 | OTOF | c.1741T>C (p.Ser581Pro) c.1786T>C (p.Ser596Pro) | |
2 | g.26480848A>T | CA346133037 | OTOF | c.1741T>A (p.Ser581Thr) c.1786T>A (p.Ser596Thr) | |
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) |