Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17610343_17610367del | CA2574770833 | OTOG | c.5079_5103del (p.Pro1694LeufsTer8) c.5043_5067del (p.Pro1682LeufsTer8) c.2097_2121del (p.Pro700LeufsTer8) | gnomAD v4 |
11 | g.17610356del | CA597904880 | OTOG | c.5092del (p.Gln1698ArgfsTer12) c.5056del (p.Gln1686ArgfsTer12) c.2110del (p.Gln704ArgfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17610356C>A | CA379797509 | OTOG | c.5092C>A (p.Gln1698Lys) c.5056C>A (p.Gln1686Lys) c.2110C>A (p.Gln704Lys) | gnomAD v4 |
11 | g.17610356C= | CA1955230706 | OTOG | c.5092C= (p.Gln1698=) c.5056C= (p.Gln1686=) c.2110C= (p.Gln704=) | |
11 | g.17610356C>G | CA379797511 | OTOG | c.5092C>G (p.Gln1698Glu) c.5056C>G (p.Gln1686Glu) c.2110C>G (p.Gln704Glu) | |
11 | g.17610356C>T | CA218476029 | OTOG | c.5092C>T (p.Gln1698Ter) c.5056C>T (p.Gln1686Ter) c.2110C>T (p.Gln704Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17610357A>C | CA379797516 | OTOG | c.5093A>C (p.Gln1698Pro) c.5057A>C (p.Gln1686Pro) c.2111A>C (p.Gln704Pro) | dbSNP gnomAD v4 |
11 | g.17610357A>G | CA379797518 | OTOG | c.5093A>G (p.Gln1698Arg) c.5057A>G (p.Gln1686Arg) c.2111A>G (p.Gln704Arg) | |
11 | g.17610357A>T | CA379797522 | OTOG | c.5093A>T (p.Gln1698Leu) c.5057A>T (p.Gln1686Leu) c.2111A>T (p.Gln704Leu) | |
11 | g.17610358G>A | CA473518201 | OTOG | c.5094G>A (p.Gln1698=) c.5058G>A (p.Gln1686=) c.2112G>A (p.Gln704=) | |
11 | g.17610358G>C | CA379797525 | OTOG | c.5094G>C (p.Gln1698His) c.5058G>C (p.Gln1686His) c.2112G>C (p.Gln704His) | |
11 | g.17610358G>T | CA379797526 | OTOG | c.5094G>T (p.Gln1698His) c.5058G>T (p.Gln1686His) c.2112G>T (p.Gln704His) | |
11 | g.17610359G>A | CA379797528 | OTOG | c.5095G>A (p.Ala1699Thr) c.5059G>A (p.Ala1687Thr) c.2113G>A (p.Ala705Thr) | |
11 | g.17610359G>C | CA379797531 | OTOG | c.5095G>C (p.Ala1699Pro) c.5059G>C (p.Ala1687Pro) c.2113G>C (p.Ala705Pro) | |
11 | g.17610359G>T | CA379797533 | OTOG | c.5095G>T (p.Ala1699Ser) c.5059G>T (p.Ala1687Ser) c.2113G>T (p.Ala705Ser) | |
11 | g.17610360C>A | CA379797542 | OTOG | c.5096C>A (p.Ala1699Asp) c.5060C>A (p.Ala1687Asp) c.2114C>A (p.Ala705Asp) | gnomAD v4 |
11 | g.17610360C>G | CA379797539 | OTOG | c.5096C>G (p.Ala1699Gly) c.5060C>G (p.Ala1687Gly) c.2114C>G (p.Ala705Gly) | |
11 | g.17610360C>T | CA379797536 | OTOG | c.5096C>T (p.Ala1699Val) c.5060C>T (p.Ala1687Val) c.2114C>T (p.Ala705Val) | |
11 | g.17610361C>A | CA473518219 | OTOG | c.5097C>A (p.Ala1699=) c.5061C>A (p.Ala1687=) c.2115C>A (p.Ala705=) | |
11 | g.17610361C= | CA1955230711 | OTOG | c.5097C= (p.Ala1699=) c.5061C= (p.Ala1687=) c.2115C= (p.Ala705=) | |
11 | g.17610361C>G | CA473518226 | OTOG | c.5097C>G (p.Ala1699=) c.5061C>G (p.Ala1687=) c.2115C>G (p.Ala705=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17610361C>T | CA473518228 | OTOG | c.5097C>T (p.Ala1699=) c.5061C>T (p.Ala1687=) c.2115C>T (p.Ala705=) | gnomAD v4 |
11 | g.17610362C>A | CA379797544 | OTOG | c.5098C>A (p.Gln1700Lys) c.5062C>A (p.Gln1688Lys) c.2116C>A (p.Gln706Lys) | |
11 | g.17610362C>G | CA379797545 | OTOG | c.5098C>G (p.Gln1700Glu) c.5062C>G (p.Gln1688Glu) c.2116C>G (p.Gln706Glu) | |
11 | g.17610362C>T | CA379797547 | OTOG | c.5098C>T (p.Gln1700Ter) c.5062C>T (p.Gln1688Ter) c.2116C>T (p.Gln706Ter) | |
11 | g.17610363A>C | CA379797549 | OTOG | c.5099A>C (p.Gln1700Pro) c.5063A>C (p.Gln1688Pro) c.2117A>C (p.Gln706Pro) | |
11 | g.17610363A>G | CA379797554 | OTOG | c.5099A>G (p.Gln1700Arg) c.5063A>G (p.Gln1688Arg) c.2117A>G (p.Gln706Arg) | |
11 | g.17610363A>T | CA379797557 | OTOG | c.5099A>T (p.Gln1700Leu) c.5063A>T (p.Gln1688Leu) c.2117A>T (p.Gln706Leu) | |
11 | g.17610364G>A | CA473518235 | OTOG | c.5100G>A (p.Gln1700=) c.5064G>A (p.Gln1688=) c.2118G>A (p.Gln706=) | |
11 | g.17610364G>C | CA379797560 | OTOG | c.5100G>C (p.Gln1700His) c.5064G>C (p.Gln1688His) c.2118G>C (p.Gln706His) | |
11 | g.17610364G>T | CA379797561 | OTOG | c.5100G>T (p.Gln1700His) c.5064G>T (p.Gln1688His) c.2118G>T (p.Gln706His) | gnomAD v4 |
11 | g.17610365A= | CA1955230714 | OTOG | c.5101A= (p.Ser1701=) c.5065A= (p.Ser1689=) c.2119A= (p.Ser707=) | |
11 | g.17610365A>C | CA379797566 | OTOG | c.5101A>C (p.Ser1701Arg) c.5065A>C (p.Ser1689Arg) c.2119A>C (p.Ser707Arg) | |
11 | g.17610365A>G | CA379797569 | OTOG | c.5101A>G (p.Ser1701Gly) c.5065A>G (p.Ser1689Gly) c.2119A>G (p.Ser707Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17610365A>T | CA379797571 | OTOG | c.5101A>T (p.Ser1701Cys) c.5065A>T (p.Ser1689Cys) c.2119A>T (p.Ser707Cys) | |
11 | g.17610366G>A | CA379797572 | OTOG | c.5102G>A (p.Ser1701Asn) c.5066G>A (p.Ser1689Asn) c.2120G>A (p.Ser707Asn) | dbSNP gnomAD v4 |
11 | g.17610366G>C | CA379797573 | OTOG | c.5102G>C (p.Ser1701Thr) c.5066G>C (p.Ser1689Thr) c.2120G>C (p.Ser707Thr) | |
11 | g.17610366G= | CA1955230718 | OTOG | c.5102G= (p.Ser1701=) c.5066G= (p.Ser1689=) c.2120G= (p.Ser707=) | |
11 | g.17610366G>T | CA379797574 | OTOG | c.5102G>T (p.Ser1701Ile) c.5066G>T (p.Ser1689Ile) c.2120G>T (p.Ser707Ile) | |
11 | g.17610367T>A | CA379797575 | OTOG | c.5103T>A (p.Ser1701Arg) c.5067T>A (p.Ser1689Arg) c.2121T>A (p.Ser707Arg) | |
11 | g.17610367T>C | CA473518243 | OTOG | c.5103T>C (p.Ser1701=) c.5067T>C (p.Ser1689=) c.2121T>C (p.Ser707=) | gnomAD v4 |
11 | g.17610367T>G | CA379797576 | OTOG | c.5103T>G (p.Ser1701Arg) c.5067T>G (p.Ser1689Arg) c.2121T>G (p.Ser707Arg) | |
11 | g.17610368G>A | CA379797577 | OTOG | c.5104G>A (p.Ala1702Thr) c.5068G>A (p.Ala1690Thr) c.2122G>A (p.Ala708Thr) | |
11 | g.17610368G>C | CA379797578 | OTOG | c.5104G>C (p.Ala1702Pro) c.5068G>C (p.Ala1690Pro) c.2122G>C (p.Ala708Pro) | |
11 | g.17610368G>T | CA379797579 | OTOG | c.5104G>T (p.Ala1702Ser) c.5068G>T (p.Ala1690Ser) c.2122G>T (p.Ala708Ser) | gnomAD v4 |
11 | g.17610369C>A | CA379797580 | OTOG | c.5105C>A (p.Ala1702Asp) c.5069C>A (p.Ala1690Asp) c.2123C>A (p.Ala708Asp) | gnomAD v4 |
11 | g.17610369C>G | CA379797588 | OTOG | c.5105C>G (p.Ala1702Gly) c.5069C>G (p.Ala1690Gly) c.2123C>G (p.Ala708Gly) | |
11 | g.17610369C>T | CA379797590 | OTOG | c.5105C>T (p.Ala1702Val) c.5069C>T (p.Ala1690Val) c.2123C>T (p.Ala708Val) | gnomAD v4 |
11 | g.17610370T>A | CA473518247 | OTOG | c.5106T>A (p.Ala1702=) c.5070T>A (p.Ala1690=) c.2124T>A (p.Ala708=) | |
11 | g.17610370T>C | CA473518251 | OTOG | c.5106T>C (p.Ala1702=) c.5070T>C (p.Ala1690=) c.2124T>C (p.Ala708=) |