Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26477665G>A | CA425360103 | OTOF | c.2299C>T (p.Leu767=) c.58C>T (p.Leu20=) c.229C>T (p.Leu77=) c.2344C>T (p.Leu782=) | ClinVar gnomAD v4 |
2 | g.26477665G>C | CA346123594 | OTOF | c.2299C>G (p.Leu767Val) c.58C>G (p.Leu20Val) c.229C>G (p.Leu77Val) c.2344C>G (p.Leu782Val) | gnomAD v4 |
2 | g.26477665G>T | CA346123598 | OTOF | c.2299C>A (p.Leu767Met) c.58C>A (p.Leu20Met) c.229C>A (p.Leu77Met) c.2344C>A (p.Leu782Met) | |
2 | g.26477666C>A | CA346123601 | OTOF | c.2298G>T (p.Glu766Asp) c.57G>T (p.Glu19Asp) c.228G>T (p.Glu76Asp) c.2343G>T (p.Glu781Asp) | |
2 | g.26477666C>G | CA346123599 | OTOF | c.2298G>C (p.Glu766Asp) c.57G>C (p.Glu19Asp) c.228G>C (p.Glu76Asp) c.2343G>C (p.Glu781Asp) | |
2 | g.26477666C>T | CA425360104 | OTOF | c.2298G>A (p.Glu766=) c.57G>A (p.Glu19=) c.228G>A (p.Glu76=) c.2343G>A (p.Glu781=) | |
2 | g.26477670_26477672del | CA2586968839 | OTOF | c.2296_2298del (p.Glu766del) c.55_57del (p.Glu19del) c.226_228del (p.Glu76del) c.2341_2343del (p.Glu781del) | |
2 | g.26477667T>A | CA346123602 | OTOF | c.2297A>T (p.Glu766Val) c.56A>T (p.Glu19Val) c.227A>T (p.Glu76Val) c.2342A>T (p.Glu781Val) | |
2 | g.26477667T>C | CA346123606 | OTOF | c.2297A>G (p.Glu766Gly) c.56A>G (p.Glu19Gly) c.227A>G (p.Glu76Gly) c.2342A>G (p.Glu781Gly) | |
2 | g.26477667T>G | CA346123603 | OTOF | c.2297A>C (p.Glu766Ala) c.56A>C (p.Glu19Ala) c.227A>C (p.Glu76Ala) c.2342A>C (p.Glu781Ala) | |
2 | g.26477668C>A | CA346123607 | OTOF | c.2296G>T (p.Glu766Ter) c.55G>T (p.Glu19Ter) c.226G>T (p.Glu76Ter) c.2341G>T (p.Glu781Ter) | gnomAD v4 |
2 | g.26477668C>G | CA346123608 | OTOF | c.2296G>C (p.Glu766Gln) c.55G>C (p.Glu19Gln) c.226G>C (p.Glu76Gln) c.2341G>C (p.Glu781Gln) | |
2 | g.26477668C>T | CA346123612 | OTOF | c.2296G>A (p.Glu766Lys) c.55G>A (p.Glu19Lys) c.226G>A (p.Glu76Lys) c.2341G>A (p.Glu781Lys) | |
2 | g.26477669del | CA2658238257 | OTOF | c.2296del (p.Glu766SerfsTer2) c.55del (p.Glu19SerfsTer2) c.226del (p.Glu76SerfsTer2) c.2341del (p.Glu781SerfsTer2) | gnomAD v4 |
2 | g.26477669C>A | CA346123615 | OTOF | c.2295G>T (p.Glu765Asp) c.54G>T (p.Glu18Asp) c.225G>T (p.Glu75Asp) c.2340G>T (p.Glu780Asp) | |
2 | g.26477669C= | CA1239830388 | OTOF | c.2295G= (p.Glu765=) c.54G= (p.Glu18=) c.225G= (p.Glu75=) c.2340G= (p.Glu780=) | |
2 | g.26477669C>G | CA346123619 | OTOF | c.2295G>C (p.Glu765Asp) c.54G>C (p.Glu18Asp) c.225G>C (p.Glu75Asp) c.2340G>C (p.Glu780Asp) | |
2 | g.26477669C>T | CA1563975 | OTOF | c.2295G>A (p.Glu765=) c.54G>A (p.Glu18=) c.225G>A (p.Glu75=) c.2340G>A (p.Glu780=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477670T>A | CA346123620 | OTOF | c.2294A>T (p.Glu765Val) c.53A>T (p.Glu18Val) c.224A>T (p.Glu75Val) c.2339A>T (p.Glu780Val) | |
2 | g.26477670T>C | CA346123622 | OTOF | c.2294A>G (p.Glu765Gly) c.53A>G (p.Glu18Gly) c.224A>G (p.Glu75Gly) c.2339A>G (p.Glu780Gly) | |
2 | g.26477670T>G | CA346123623 | OTOF | c.2294A>C (p.Glu765Ala) c.53A>C (p.Glu18Ala) c.224A>C (p.Glu75Ala) c.2339A>C (p.Glu780Ala) | |
2 | g.26477671C>A | CA346123625 | OTOF | c.2293G>T (p.Glu765Ter) c.52G>T (p.Glu18Ter) c.223G>T (p.Glu75Ter) c.2338G>T (p.Glu780Ter) | |
2 | g.26477671C>G | CA346123627 | OTOF | c.2293G>C (p.Glu765Gln) c.52G>C (p.Glu18Gln) c.223G>C (p.Glu75Gln) c.2338G>C (p.Glu780Gln) | |
2 | g.26477671C>T | CA346123629 | OTOF | c.2293G>A (p.Glu765Lys) c.52G>A (p.Glu18Lys) c.223G>A (p.Glu75Lys) c.2338G>A (p.Glu780Lys) | gnomAD v4 |
2 | g.26477672C>A | CA425360106 | OTOF | c.2292G>T (p.Leu764=) c.51G>T (p.Leu17=) c.222G>T (p.Leu74=) c.2337G>T (p.Leu779=) | |
2 | g.26477672C= | CA1239830390 | OTOF | c.2292G= (p.Leu764=) c.51G= (p.Leu17=) c.222G= (p.Leu74=) c.2337G= (p.Leu779=) | |
2 | g.26477672C>G | CA425360107 | OTOF | c.2292G>C (p.Leu764=) c.51G>C (p.Leu17=) c.222G>C (p.Leu74=) c.2337G>C (p.Leu779=) | |
2 | g.26477672C>T | CA1563976 | OTOF | c.2292G>A (p.Leu764=) c.51G>A (p.Leu17=) c.222G>A (p.Leu74=) c.2337G>A (p.Leu779=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477673A= | CA1239830393 | OTOF | c.2291T= (p.Leu764=) c.50T= (p.Leu17=) c.221T= (p.Leu74=) c.2336T= (p.Leu779=) | |
2 | g.26477673A>C | CA1563977 | OTOF | c.2291T>G (p.Leu764Arg) c.50T>G (p.Leu17Arg) c.221T>G (p.Leu74Arg) c.2336T>G (p.Leu779Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477673A>G | CA346123633 | OTOF | c.2291T>C (p.Leu764Pro) c.50T>C (p.Leu17Pro) c.221T>C (p.Leu74Pro) c.2336T>C (p.Leu779Pro) | |
2 | g.26477673A>T | CA346123632 | OTOF | c.2291T>A (p.Leu764Gln) c.50T>A (p.Leu17Gln) c.221T>A (p.Leu74Gln) c.2336T>A (p.Leu779Gln) | |
2 | g.26477674G>A | CA44398675 | OTOF | c.2290C>T (p.Leu764=) c.49C>T (p.Leu17=) c.220C>T (p.Leu74=) c.2335C>T (p.Leu779=) | dbSNP gnomAD v4 |
2 | g.26477674G>C | CA346123635 | OTOF | c.2290C>G (p.Leu764Val) c.49C>G (p.Leu17Val) c.220C>G (p.Leu74Val) c.2335C>G (p.Leu779Val) | |
2 | g.26477674G= | CA1239830395 | OTOF | c.2290C= (p.Leu764=) c.49C= (p.Leu17=) c.220C= (p.Leu74=) c.2335C= (p.Leu779=) | |
2 | g.26477674G>T | CA346123640 | OTOF | c.2290C>A (p.Leu764Met) c.49C>A (p.Leu17Met) c.220C>A (p.Leu74Met) c.2335C>A (p.Leu779Met) | |
2 | g.26477675G>A | CA425360109 | OTOF | c.2289C>T (p.Val763=) c.48C>T (p.Val16=) c.219C>T (p.Val73=) c.2334C>T (p.Val778=) | |
2 | g.26477675G>C | CA425360108 | OTOF | c.2289C>G (p.Val763=) c.48C>G (p.Val16=) c.219C>G (p.Val73=) c.2334C>G (p.Val778=) | |
2 | g.26477675G>T | CA425360110 | OTOF | c.2289C>A (p.Val763=) c.48C>A (p.Val16=) c.219C>A (p.Val73=) c.2334C>A (p.Val778=) | |
2 | g.26477676A= | CA1239830397 | OTOF | c.2288T= (p.Val763=) c.47T= (p.Val16=) c.218T= (p.Val73=) c.2333T= (p.Val778=) | |
2 | g.26477676A>C | CA346123643 | OTOF | c.2288T>G (p.Val763Gly) c.47T>G (p.Val16Gly) c.218T>G (p.Val73Gly) c.2333T>G (p.Val778Gly) | |
2 | g.26477676A>G | CA44398679 | OTOF | c.2288T>C (p.Val763Ala) c.47T>C (p.Val16Ala) c.218T>C (p.Val73Ala) c.2333T>C (p.Val778Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477676A>T | CA346123644 | OTOF | c.2288T>A (p.Val763Asp) c.47T>A (p.Val16Asp) c.218T>A (p.Val73Asp) c.2333T>A (p.Val778Asp) | dbSNP gnomAD v4 |
2 | g.26477677del | CA2740257660 | OTOF | c.2287del (p.Val763SerfsTer5) c.46del (p.Val16SerfsTer5) c.217del (p.Val73SerfsTer5) c.2332del (p.Val778SerfsTer5) | |
2 | g.26477677C>A | CA1563979 | OTOF | c.2287G>T (p.Val763Phe) c.46G>T (p.Val16Phe) c.217G>T (p.Val73Phe) c.2332G>T (p.Val778Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477677C= | CA1239830399 | OTOF | c.2287G= (p.Val763=) c.46G= (p.Val16=) c.217G= (p.Val73=) c.2332G= (p.Val778=) | |
2 | g.26477677C>G | CA346123650 | OTOF | c.2287G>C (p.Val763Leu) c.46G>C (p.Val16Leu) c.217G>C (p.Val73Leu) c.2332G>C (p.Val778Leu) | |
2 | g.26477677C>T | CA1563978 | OTOF | c.2287G>A (p.Val763Ile) c.46G>A (p.Val16Ile) c.217G>A (p.Val73Ile) c.2332G>A (p.Val778Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477678G>A | CA1563981 | OTOF | c.2286C>T (p.Gly762=) c.45C>T (p.Gly15=) c.216C>T (p.Gly72=) c.2331C>T (p.Gly777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477678G>C | CA1563980 | OTOF | c.2286C>G (p.Gly762=) c.45C>G (p.Gly15=) c.216C>G (p.Gly72=) c.2331C>G (p.Gly777=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477678G= | CA1239830403 | OTOF | c.2286C= (p.Gly762=) c.45C= (p.Gly15=) c.216C= (p.Gly72=) c.2331C= (p.Gly777=) | |
2 | g.26477678G>T | CA425360111 | OTOF | c.2286C>A (p.Gly762=) c.45C>A (p.Gly15=) c.216C>A (p.Gly72=) c.2331C>A (p.Gly777=) | |
2 | g.26477679C>A | CA346123672 | OTOF | c.2285G>T (p.Gly762Val) c.44G>T (p.Gly15Val) c.215G>T (p.Gly72Val) c.2330G>T (p.Gly777Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477679C= | CA1239830404 | OTOF | c.2285G= (p.Gly762=) c.44G= (p.Gly15=) c.215G= (p.Gly72=) c.2330G= (p.Gly777=) | |
2 | g.26477679C>G | CA346123669 | OTOF | c.2285G>C (p.Gly762Ala) c.44G>C (p.Gly15Ala) c.215G>C (p.Gly72Ala) c.2330G>C (p.Gly777Ala) | |
2 | g.26477679C>T | CA346123666 | OTOF | c.2285G>A (p.Gly762Asp) c.44G>A (p.Gly15Asp) c.215G>A (p.Gly72Asp) c.2330G>A (p.Gly777Asp) | gnomAD v4 |
2 | g.26477680C>A | CA346123676 | OTOF | c.2284G>T (p.Gly762Cys) c.43G>T (p.Gly15Cys) c.214G>T (p.Gly72Cys) c.2329G>T (p.Gly777Cys) | gnomAD v4 |
2 | g.26477680C>G | CA346123679 | OTOF | c.2284G>C (p.Gly762Arg) c.43G>C (p.Gly15Arg) c.214G>C (p.Gly72Arg) c.2329G>C (p.Gly777Arg) | |
2 | g.26477680C>T | CA346123684 | OTOF | c.2284G>A (p.Gly762Ser) c.43G>A (p.Gly15Ser) c.214G>A (p.Gly72Ser) c.2329G>A (p.Gly777Ser) | gnomAD v4 |
2 | g.26477681C>A | CA425360112 | OTOF | c.2283G>T (p.Arg761=) c.42G>T (p.Arg14=) c.213G>T (p.Arg71=) c.2328G>T (p.Arg776=) | gnomAD v4 |
2 | g.26477681C>G | CA425360113 | OTOF | c.2283G>C (p.Arg761=) c.42G>C (p.Arg14=) c.213G>C (p.Arg71=) c.2328G>C (p.Arg776=) | |
2 | g.26477681C>T | CA425360114 | OTOF | c.2283G>A (p.Arg761=) c.42G>A (p.Arg14=) c.213G>A (p.Arg71=) c.2328G>A (p.Arg776=) | |
2 | g.26477682C>A | CA346123686 | OTOF | c.2282G>T (p.Arg761Leu) c.41G>T (p.Arg14Leu) c.212G>T (p.Arg71Leu) c.2327G>T (p.Arg776Leu) | |
2 | g.26477682C= | CA1239830406 | OTOF | c.2282G= (p.Arg761=) c.41G= (p.Arg14=) c.212G= (p.Arg71=) c.2327G= (p.Arg776=) | |
2 | g.26477682C>G | CA346123687 | OTOF | c.2282G>C (p.Arg761Pro) c.41G>C (p.Arg14Pro) c.212G>C (p.Arg71Pro) c.2327G>C (p.Arg776Pro) | |
2 | g.26477682C>T | CA1563982 | OTOF | c.2282G>A (p.Arg761Gln) c.41G>A (p.Arg14Gln) c.212G>A (p.Arg71Gln) c.2327G>A (p.Arg776Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477683G>A | CA1563983 | OTOF | c.2281C>T (p.Arg761Trp) c.40C>T (p.Arg14Trp) c.211C>T (p.Arg71Trp) c.2326C>T (p.Arg776Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477683G>C | CA346123691 | OTOF | c.2281C>G (p.Arg761Gly) c.40C>G (p.Arg14Gly) c.211C>G (p.Arg71Gly) c.2326C>G (p.Arg776Gly) | COSMIC COSMIC COSMIC |
2 | g.26477683G= | CA1239830408 | OTOF | c.2281C= (p.Arg761=) c.40C= (p.Arg14=) c.211C= (p.Arg71=) c.2326C= (p.Arg776=) | |
2 | g.26477683G>T | CA425360115 | OTOF | c.2281C>A (p.Arg761=) c.40C>A (p.Arg14=) c.211C>A (p.Arg71=) c.2326C>A (p.Arg776=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26477684C>A | CA425360116 | OTOF | c.2280G>T (p.Leu760=) c.39G>T (p.Leu13=) c.210G>T (p.Leu70=) c.2325G>T (p.Leu775=) | |
2 | g.26477684C>G | CA425360117 | OTOF | c.2280G>C (p.Leu760=) c.39G>C (p.Leu13=) c.210G>C (p.Leu70=) c.2325G>C (p.Leu775=) | |
2 | g.26477684C>T | CA425360119 | OTOF | c.2280G>A (p.Leu760=) c.39G>A (p.Leu13=) c.210G>A (p.Leu70=) c.2325G>A (p.Leu775=) | |
2 | g.26477685A>C | CA346123693 | OTOF | c.2279T>G (p.Leu760Arg) c.38T>G (p.Leu13Arg) c.209T>G (p.Leu70Arg) c.2324T>G (p.Leu775Arg) | |
2 | g.26477685A>G | CA346123694 | OTOF | c.2279T>C (p.Leu760Pro) c.38T>C (p.Leu13Pro) c.209T>C (p.Leu70Pro) c.2324T>C (p.Leu775Pro) | |
2 | g.26477685A>T | CA346123695 | OTOF | c.2279T>A (p.Leu760Gln) c.38T>A (p.Leu13Gln) c.209T>A (p.Leu70Gln) c.2324T>A (p.Leu775Gln) | |
2 | g.26477686G>A | CA425360122 | OTOF | c.2278C>T (p.Leu760=) c.37C>T (p.Leu13=) c.208C>T (p.Leu70=) c.2323C>T (p.Leu775=) | |
2 | g.26477686G>C | CA346123696 | OTOF | c.2278C>G (p.Leu760Val) c.37C>G (p.Leu13Val) c.208C>G (p.Leu70Val) c.2323C>G (p.Leu775Val) | |
2 | g.26477686G>T | CA346123697 | OTOF | c.2278C>A (p.Leu760Met) c.37C>A (p.Leu13Met) c.208C>A (p.Leu70Met) c.2323C>A (p.Leu775Met) | |
2 | g.26477687G>A | CA425360123 | OTOF | c.2277C>T (p.Arg759=) c.36C>T (p.Arg12=) c.207C>T (p.Arg69=) c.2322C>T (p.Arg774=) | |
2 | g.26477687G>C | CA425360124 | OTOF | c.2277C>G (p.Arg759=) c.36C>G (p.Arg12=) c.207C>G (p.Arg69=) c.2322C>G (p.Arg774=) | |
2 | g.26477687G= | CA1239830410 | OTOF | c.2277C= (p.Arg759=) c.36C= (p.Arg12=) c.207C= (p.Arg69=) c.2322C= (p.Arg774=) | |
2 | g.26477687G>T | CA425360125 | OTOF | c.2277C>A (p.Arg759=) c.36C>A (p.Arg12=) c.207C>A (p.Arg69=) c.2322C>A (p.Arg774=) | dbSNP |
2 | g.26477688C>A | CA346123703 | OTOF | c.2276G>T (p.Arg759Leu) c.35G>T (p.Arg12Leu) c.206G>T (p.Arg69Leu) c.2321G>T (p.Arg774Leu) | |
2 | g.26477688C= | CA1239830411 | OTOF | c.2276G= (p.Arg759=) c.35G= (p.Arg12=) c.206G= (p.Arg69=) c.2321G= (p.Arg774=) | |
2 | g.26477688C>G | CA346123698 | OTOF | c.2276G>C (p.Arg759Pro) c.35G>C (p.Arg12Pro) c.206G>C (p.Arg69Pro) c.2321G>C (p.Arg774Pro) | |
2 | g.26477688C>T | CA1563984 | OTOF | c.2276G>A (p.Arg759His) c.35G>A (p.Arg12His) c.206G>A (p.Arg69His) c.2321G>A (p.Arg774His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477689G>A | CA1563985 | OTOF | c.2275C>T (p.Arg759Cys) c.34C>T (p.Arg12Cys) c.205C>T (p.Arg69Cys) c.2320C>T (p.Arg774Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477689G>C | CA346123706 | OTOF | c.2275C>G (p.Arg759Gly) c.34C>G (p.Arg12Gly) c.205C>G (p.Arg69Gly) c.2320C>G (p.Arg774Gly) | |
2 | g.26477689G= | CA1239830419 | OTOF | c.2275C= (p.Arg759=) c.34C= (p.Arg12=) c.205C= (p.Arg69=) c.2320C= (p.Arg774=) | |
2 | g.26477689G>T | CA346123708 | OTOF | c.2275C>A (p.Arg759Ser) c.34C>A (p.Arg12Ser) c.205C>A (p.Arg69Ser) c.2320C>A (p.Arg774Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477690A= | CA1239830420 | OTOF | c.2274T= (p.Arg758=) c.33T= (p.Arg11=) c.204T= (p.Arg68=) c.2319T= (p.Arg773=) | |
2 | g.26477690A>C | CA425360127 | OTOF | c.2274T>G (p.Arg758=) c.33T>G (p.Arg11=) c.204T>G (p.Arg68=) c.2319T>G (p.Arg773=) | |
2 | g.26477690A>G | CA1563986 | OTOF | c.2274T>C (p.Arg758=) c.33T>C (p.Arg11=) c.204T>C (p.Arg68=) c.2319T>C (p.Arg773=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477690A>T | CA425360126 | OTOF | c.2274T>A (p.Arg758=) c.33T>A (p.Arg11=) c.204T>A (p.Arg68=) c.2319T>A (p.Arg773=) | |
2 | g.26477690_26477695delinsT | CA2586968840 | OTOF | c.2269_2274delinsA (p.Glu757ThrfsTer21) c.28_33delinsA (p.Glu10ThrfsTer21) c.199_204delinsA (p.Glu67ThrfsTer21) c.2314_2319delinsA (p.Glu772ThrfsTer21) | |
2 | g.26477691C>A | CA346123713 | OTOF | c.2273G>T (p.Arg758Leu) c.32G>T (p.Arg11Leu) c.203G>T (p.Arg68Leu) c.2318G>T (p.Arg773Leu) | |
2 | g.26477691C= | CA1239830421 | OTOF | c.2273G= (p.Arg758=) c.32G= (p.Arg11=) c.203G= (p.Arg68=) c.2318G= (p.Arg773=) | |
2 | g.26477691C>G | CA346123714 | OTOF | c.2273G>C (p.Arg758Pro) c.32G>C (p.Arg11Pro) c.203G>C (p.Arg68Pro) c.2318G>C (p.Arg773Pro) | |
2 | g.26477691C>T | CA1563987 | OTOF | c.2273G>A (p.Arg758His) c.32G>A (p.Arg11His) c.203G>A (p.Arg68His) c.2318G>A (p.Arg773His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477692G>A | CA1563988 | OTOF | c.2272C>T (p.Arg758Cys) c.31C>T (p.Arg11Cys) c.202C>T (p.Arg68Cys) c.2317C>T (p.Arg773Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26477692G>C | CA346123717 | OTOF | c.2272C>G (p.Arg758Gly) c.31C>G (p.Arg11Gly) c.202C>G (p.Arg68Gly) c.2317C>G (p.Arg773Gly) | gnomAD v4 |
2 | g.26477692G= | CA1239830422 | OTOF | c.2272C= (p.Arg758=) c.31C= (p.Arg11=) c.202C= (p.Arg68=) c.2317C= (p.Arg773=) | |
2 | g.26477692G>T | CA346123719 | OTOF | c.2272C>A (p.Arg758Ser) c.31C>A (p.Arg11Ser) c.202C>A (p.Arg68Ser) c.2317C>A (p.Arg773Ser) | |
2 | g.26477693C>A | CA346123720 | OTOF | c.2271G>T (p.Glu757Asp) c.30G>T (p.Glu10Asp) c.201G>T (p.Glu67Asp) c.2316G>T (p.Glu772Asp) | |
2 | g.26477693C>G | CA346123721 | OTOF | c.2271G>C (p.Glu757Asp) c.30G>C (p.Glu10Asp) c.201G>C (p.Glu67Asp) c.2316G>C (p.Glu772Asp) | gnomAD v4 |
2 | g.26477693C>T | CA425360128 | OTOF | c.2271G>A (p.Glu757=) c.30G>A (p.Glu10=) c.201G>A (p.Glu67=) c.2316G>A (p.Glu772=) | |
2 | g.26477694T>A | CA346123725 | OTOF | c.2270A>T (p.Glu757Val) c.29A>T (p.Glu10Val) c.200A>T (p.Glu67Val) c.2315A>T (p.Glu772Val) | |
2 | g.26477694T>C | CA346123728 | OTOF | c.2270A>G (p.Glu757Gly) c.29A>G (p.Glu10Gly) c.200A>G (p.Glu67Gly) c.2315A>G (p.Glu772Gly) | gnomAD v4 |
2 | g.26477694T>G | CA346123723 | OTOF | c.2270A>C (p.Glu757Ala) c.29A>C (p.Glu10Ala) c.200A>C (p.Glu67Ala) c.2315A>C (p.Glu772Ala) | |
2 | g.26477695C>A | CA346123732 | OTOF | c.2269G>T (p.Glu757Ter) c.28G>T (p.Glu10Ter) c.199G>T (p.Glu67Ter) c.2314G>T (p.Glu772Ter) | |
2 | g.26477695C>G | CA346123729 | OTOF | c.2269G>C (p.Glu757Gln) c.28G>C (p.Glu10Gln) c.199G>C (p.Glu67Gln) c.2314G>C (p.Glu772Gln) | |
2 | g.26477695C>T | CA346123730 | OTOF | c.2269G>A (p.Glu757Lys) c.28G>A (p.Glu10Lys) c.199G>A (p.Glu67Lys) c.2314G>A (p.Glu772Lys) | |
2 | g.26477696A>C | CA425360131 | OTOF | c.2268T>G (p.Pro756=) c.27T>G (p.Pro9=) c.198T>G (p.Pro66=) c.2313T>G (p.Pro771=) | |
2 | g.26477696A>G | CA425360132 | OTOF | c.2268T>C (p.Pro756=) c.27T>C (p.Pro9=) c.198T>C (p.Pro66=) c.2313T>C (p.Pro771=) | |
2 | g.26477696A>T | CA425360133 | OTOF | c.2268T>A (p.Pro756=) c.27T>A (p.Pro9=) c.198T>A (p.Pro66=) c.2313T>A (p.Pro771=) | |
2 | g.26477697G>A | CA346123733 | OTOF | c.2267C>T (p.Pro756Leu) c.26C>T (p.Pro9Leu) c.197C>T (p.Pro66Leu) c.2312C>T (p.Pro771Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477697G>C | CA346123735 | OTOF | c.2267C>G (p.Pro756Arg) c.26C>G (p.Pro9Arg) c.197C>G (p.Pro66Arg) c.2312C>G (p.Pro771Arg) | |
2 | g.26477697G= | CA1239830423 | OTOF | c.2267C= (p.Pro756=) c.26C= (p.Pro9=) c.197C= (p.Pro66=) c.2312C= (p.Pro771=) | |
2 | g.26477697G>T | CA346123737 | OTOF | c.2267C>A (p.Pro756His) c.26C>A (p.Pro9His) c.197C>A (p.Pro66His) c.2312C>A (p.Pro771His) | gnomAD v4 |
2 | g.26477698G>A | CA346123746 | OTOF | c.2266C>T (p.Pro756Ser) c.25C>T (p.Pro9Ser) c.196C>T (p.Pro66Ser) c.2311C>T (p.Pro771Ser) | |
2 | g.26477698G>C | CA346123745 | OTOF | c.2266C>G (p.Pro756Ala) c.25C>G (p.Pro9Ala) c.196C>G (p.Pro66Ala) c.2311C>G (p.Pro771Ala) | |
2 | g.26477698G= | CA1239830425 | OTOF | c.2266C= (p.Pro756=) c.25C= (p.Pro9=) c.196C= (p.Pro66=) c.2311C= (p.Pro771=) | |
2 | g.26477698G>T | CA1563989 | OTOF | c.2266C>A (p.Pro756Thr) c.25C>A (p.Pro9Thr) c.196C>A (p.Pro66Thr) c.2311C>A (p.Pro771Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477699G>A | CA1563990 | OTOF | c.2265C>T (p.Tyr755=) c.24C>T (p.Tyr8=) c.195C>T (p.Tyr65=) c.2310C>T (p.Tyr770=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477699G>C | CA346123749 | OTOF | c.2265C>G (p.Tyr755Ter) c.24C>G (p.Tyr8Ter) c.195C>G (p.Tyr65Ter) c.2310C>G (p.Tyr770Ter) | |
2 | g.26477699G= | CA1239830426 | OTOF | c.2265C= (p.Tyr755=) c.24C= (p.Tyr8=) c.195C= (p.Tyr65=) c.2310C= (p.Tyr770=) | |
2 | g.26477699G>T | CA44398701 | OTOF | c.2265C>A (p.Tyr755Ter) c.24C>A (p.Tyr8Ter) c.195C>A (p.Tyr65Ter) c.2310C>A (p.Tyr770Ter) | dbSNP |
2 | g.26477700T>A | CA1563991 | OTOF | c.2264A>T (p.Tyr755Phe) c.23A>T (p.Tyr8Phe) c.194A>T (p.Tyr65Phe) c.2309A>T (p.Tyr770Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477700T>C | CA346123752 | OTOF | c.2264A>G (p.Tyr755Cys) c.23A>G (p.Tyr8Cys) c.194A>G (p.Tyr65Cys) c.2309A>G (p.Tyr770Cys) | |
2 | g.26477700T>G | CA346123756 | OTOF | c.2264A>C (p.Tyr755Ser) c.23A>C (p.Tyr8Ser) c.194A>C (p.Tyr65Ser) c.2309A>C (p.Tyr770Ser) | dbSNP |
2 | g.26477700T= | CA1239830428 | OTOF | c.2264A= (p.Tyr755=) c.23A= (p.Tyr8=) c.194A= (p.Tyr65=) c.2309A= (p.Tyr770=) | |
2 | g.26477701A>C | CA346123766 | OTOF | c.2263T>G (p.Tyr755Asp) c.22T>G (p.Tyr8Asp) c.193T>G (p.Tyr65Asp) c.2308T>G (p.Tyr770Asp) | |
2 | g.26477701A>G | CA346123761 | OTOF | c.2263T>C (p.Tyr755His) c.22T>C (p.Tyr8His) c.193T>C (p.Tyr65His) c.2308T>C (p.Tyr770His) | |
2 | g.26477701A>T | CA346123764 | OTOF | c.2263T>A (p.Tyr755Asn) c.22T>A (p.Tyr8Asn) c.193T>A (p.Tyr65Asn) c.2308T>A (p.Tyr770Asn) | |
2 | g.26477702G>A | CA1563992 | OTOF | c.2262C>T (p.Ser754=) c.21C>T (p.Ser7=) c.192C>T (p.Ser64=) c.2307C>T (p.Ser769=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.26477702G>C | CA425360155 | OTOF | c.2262C>G (p.Ser754=) c.21C>G (p.Ser7=) c.192C>G (p.Ser64=) c.2307C>G (p.Ser769=) | |
2 | g.26477702G= | CA1239830430 | OTOF | c.2262C= (p.Ser754=) c.21C= (p.Ser7=) c.192C= (p.Ser64=) c.2307C= (p.Ser769=) | |
2 | g.26477702G>T | CA425360156 | OTOF | c.2262C>A (p.Ser754=) c.21C>A (p.Ser7=) c.192C>A (p.Ser64=) c.2307C>A (p.Ser769=) | |
2 | g.26477703G>A | CA346123770 | OTOF | c.2261C>T (p.Ser754Phe) c.20C>T (p.Ser7Phe) c.191C>T (p.Ser64Phe) c.2306C>T (p.Ser769Phe) | |
2 | g.26477703G>C | CA346123771 | OTOF | c.2261C>G (p.Ser754Cys) c.20C>G (p.Ser7Cys) c.191C>G (p.Ser64Cys) c.2306C>G (p.Ser769Cys) | |
2 | g.26477703G>T | CA346123772 | OTOF | c.2261C>A (p.Ser754Tyr) c.20C>A (p.Ser7Tyr) c.191C>A (p.Ser64Tyr) c.2306C>A (p.Ser769Tyr) | |
2 | g.26477704A>C | CA346123774 | OTOF | c.2260T>G (p.Ser754Ala) c.19T>G (p.Ser7Ala) c.190T>G (p.Ser64Ala) c.2305T>G (p.Ser769Ala) | |
2 | g.26477704A>G | CA346123776 | OTOF | c.2260T>C (p.Ser754Pro) c.19T>C (p.Ser7Pro) c.190T>C (p.Ser64Pro) c.2305T>C (p.Ser769Pro) | |
2 | g.26477704A>T | CA346123778 | OTOF | c.2260T>A (p.Ser754Thr) c.19T>A (p.Ser7Thr) c.190T>A (p.Ser64Thr) c.2305T>A (p.Ser769Thr) | |
2 | g.26477705C>A | CA346123780 | OTOF | c.2259G>T (p.Lys753Asn) c.18G>T (p.Lys6Asn) c.189G>T (p.Lys63Asn) c.2304G>T (p.Lys768Asn) | |
2 | g.26477705C>G | CA346123788 | OTOF | c.2259G>C (p.Lys753Asn) c.18G>C (p.Lys6Asn) c.189G>C (p.Lys63Asn) c.2304G>C (p.Lys768Asn) | |
2 | g.26477705C>T | CA425360157 | OTOF | c.2259G>A (p.Lys753=) c.18G>A (p.Lys6=) c.189G>A (p.Lys63=) c.2304G>A (p.Lys768=) | gnomAD v4 |
2 | g.26477706T>A | CA346123792 | OTOF | c.2258A>T (p.Lys753Met) c.17A>T (p.Lys6Met) c.188A>T (p.Lys63Met) c.2303A>T (p.Lys768Met) | |
2 | g.26477706T>C | CA346123797 | OTOF | c.2258A>G (p.Lys753Arg) c.17A>G (p.Lys6Arg) c.188A>G (p.Lys63Arg) c.2303A>G (p.Lys768Arg) | |
2 | g.26477706T>G | CA346123814 | OTOF | c.2258A>C (p.Lys753Thr) c.17A>C (p.Lys6Thr) c.188A>C (p.Lys63Thr) c.2303A>C (p.Lys768Thr) | |
2 | g.26477707T>A | CA346123820 | OTOF | c.2257A>T (p.Lys753Ter) c.16A>T (p.Lys6Ter) c.187A>T (p.Lys63Ter) c.2302A>T (p.Lys768Ter) | |
2 | g.26477707T>C | CA346123825 | OTOF | c.2257A>G (p.Lys753Glu) c.16A>G (p.Lys6Glu) c.187A>G (p.Lys63Glu) c.2302A>G (p.Lys768Glu) | gnomAD v4 |
2 | g.26477707T>G | CA346123823 | OTOF | c.2257A>C (p.Lys753Gln) c.16A>C (p.Lys6Gln) c.187A>C (p.Lys63Gln) c.2302A>C (p.Lys768Gln) | |
2 | g.26477708C>A | CA346123831 | OTOF | c.2256G>T (p.Glu752Asp) c.15G>T (p.Glu5Asp) c.186G>T (p.Glu62Asp) c.2301G>T (p.Glu767Asp) | |
2 | g.26477708C>G | CA346123836 | OTOF | c.2256G>C (p.Glu752Asp) c.15G>C (p.Glu5Asp) c.186G>C (p.Glu62Asp) c.2301G>C (p.Glu767Asp) | |
2 | g.26477708C>T | CA425360158 | OTOF | c.2256G>A (p.Glu752=) c.15G>A (p.Glu5=) c.186G>A (p.Glu62=) c.2301G>A (p.Glu767=) | ClinVar |
2 | g.26477709T>A | CA346123840 | OTOF | c.2255A>T (p.Glu752Val) c.14A>T (p.Glu5Val) c.185A>T (p.Glu62Val) c.2300A>T (p.Glu767Val) | |
2 | g.26477709T>C | CA1563993 | OTOF | c.2255A>G (p.Glu752Gly) c.14A>G (p.Glu5Gly) c.185A>G (p.Glu62Gly) c.2300A>G (p.Glu767Gly) | dbSNP ExAC |
2 | g.26477709T>G | CA346123845 | OTOF | c.2255A>C (p.Glu752Ala) c.14A>C (p.Glu5Ala) c.185A>C (p.Glu62Ala) c.2300A>C (p.Glu767Ala) | |
2 | g.26477709T= | CA1239830432 | OTOF | c.2255A= (p.Glu752=) c.14A= (p.Glu5=) c.185A= (p.Glu62=) c.2300A= (p.Glu767=) | |
2 | g.26477710C>A | CA346123848 | OTOF | c.2254G>T (p.Glu752Ter) c.13G>T (p.Glu5Ter) c.184G>T (p.Glu62Ter) c.2299G>T (p.Glu767Ter) | |
2 | g.26477710C>G | CA346123849 | OTOF | c.2254G>C (p.Glu752Gln) c.13G>C (p.Glu5Gln) c.184G>C (p.Glu62Gln) c.2299G>C (p.Glu767Gln) | |
2 | g.26477710C>T | CA346123851 | OTOF | c.2254G>A (p.Glu752Lys) c.13G>A (p.Glu5Lys) c.184G>A (p.Glu62Lys) c.2299G>A (p.Glu767Lys) | COSMIC COSMIC COSMIC |
2 | g.26477711C>A | CA425360160 | OTOF | c.2253G>T (p.Thr751=) c.12G>T (p.Thr4=) c.183G>T (p.Thr61=) c.2298G>T (p.Thr766=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477711C= | CA1239830435 | OTOF | c.2253G= (p.Thr751=) c.12G= (p.Thr4=) c.183G= (p.Thr61=) c.2298G= (p.Thr766=) | |
2 | g.26477711C>G | CA425360159 | OTOF | c.2253G>C (p.Thr751=) c.12G>C (p.Thr4=) c.183G>C (p.Thr61=) c.2298G>C (p.Thr766=) | ClinVar |
2 | g.26477711C>T | CA1563994 | OTOF | c.2253G>A (p.Thr751=) c.12G>A (p.Thr4=) c.183G>A (p.Thr61=) c.2298G>A (p.Thr766=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477712G>A | CA177555 | OTOF | c.2252C>T (p.Thr751Met) c.11C>T (p.Thr4Met) c.182C>T (p.Thr61Met) c.2297C>T (p.Thr766Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477712G>C | CA346123889 | OTOF | c.2252C>G (p.Thr751Arg) c.11C>G (p.Thr4Arg) c.182C>G (p.Thr61Arg) c.2297C>G (p.Thr766Arg) | |
2 | g.26477712G= | CA1239830438 | OTOF | c.2252C= (p.Thr751=) c.11C= (p.Thr4=) c.182C= (p.Thr61=) c.2297C= (p.Thr766=) | |
2 | g.26477712G>T | CA346123906 | OTOF | c.2252C>A (p.Thr751Lys) c.11C>A (p.Thr4Lys) c.182C>A (p.Thr61Lys) c.2297C>A (p.Thr766Lys) | gnomAD v4 |
2 | g.26477713T>A | CA346123917 | OTOF | c.2251A>T (p.Thr751Ser) c.10A>T (p.Thr4Ser) c.181A>T (p.Thr61Ser) c.2296A>T (p.Thr766Ser) | |
2 | g.26477713T>C | CA346123913 | OTOF | c.2251A>G (p.Thr751Ala) c.10A>G (p.Thr4Ala) c.181A>G (p.Thr61Ala) c.2296A>G (p.Thr766Ala) | |
2 | g.26477713T>G | CA346123915 | OTOF | c.2251A>C (p.Thr751Pro) c.10A>C (p.Thr4Pro) c.181A>C (p.Thr61Pro) c.2296A>C (p.Thr766Pro) | |
2 | g.26477716del | CA2658238258 | OTOF | c.2251del (p.Thr751ArgfsTer17) c.10del (p.Thr4ArgfsTer17) c.181del (p.Thr61ArgfsTer17) c.2296del (p.Thr766ArgfsTer17) | gnomAD v4 |
2 | g.26477714T>A | CA346123921 | OTOF | c.2250A>T (p.Lys750Asn) c.9A>T (p.Lys3Asn) c.180A>T (p.Lys60Asn) c.2295A>T (p.Lys765Asn) | |
2 | g.26477714T>C | CA425360161 | OTOF | c.2250A>G (p.Lys750=) c.9A>G (p.Lys3=) c.180A>G (p.Lys60=) c.2295A>G (p.Lys765=) | |
2 | g.26477714T>G | CA346123922 | OTOF | c.2250A>C (p.Lys750Asn) c.9A>C (p.Lys3Asn) c.180A>C (p.Lys60Asn) c.2295A>C (p.Lys765Asn) | |
2 | g.26477715T>A | CA346123927 | OTOF | c.2249A>T (p.Lys750Ile) c.8A>T (p.Lys3Ile) c.179A>T (p.Lys60Ile) c.2294A>T (p.Lys765Ile) | |
2 | g.26477715T>C | CA346123932 | OTOF | c.2249A>G (p.Lys750Arg) c.8A>G (p.Lys3Arg) c.179A>G (p.Lys60Arg) c.2294A>G (p.Lys765Arg) | |
2 | g.26477715T>G | CA346123935 | OTOF | c.2249A>C (p.Lys750Thr) c.8A>C (p.Lys3Thr) c.179A>C (p.Lys60Thr) c.2294A>C (p.Lys765Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477715T= | CA1239830440 | OTOF | c.2249A= (p.Lys750=) c.8A= (p.Lys3=) c.179A= (p.Lys60=) c.2294A= (p.Lys765=) | |
2 | g.26477716T>A | CA346123940 | OTOF | c.2248A>T (p.Lys750Ter) c.7A>T (p.Lys3Ter) c.178A>T (p.Lys60Ter) c.2293A>T (p.Lys765Ter) | |
2 | g.26477716T>C | CA177558 | OTOF | c.2248A>G (p.Lys750Glu) c.7A>G (p.Lys3Glu) c.178A>G (p.Lys60Glu) c.2293A>G (p.Lys765Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477716T>G | CA346123945 | OTOF | c.2248A>C (p.Lys750Gln) c.7A>C (p.Lys3Gln) c.178A>C (p.Lys60Gln) c.2293A>C (p.Lys765Gln) | |
2 | g.26477716T= | CA1239830442 | OTOF | c.2248A= (p.Lys750=) c.7A= (p.Lys3=) c.178A= (p.Lys60=) c.2293A= (p.Lys765=) | |
2 | g.26477717G>A | CA425360164 | OTOF | c.2247C>T (p.Ile749=) c.6C>T (p.Ile2=) c.177C>T (p.Ile59=) c.2292C>T (p.Ile764=) | |
2 | g.26477717G>C | CA346123948 | OTOF | c.2247C>G (p.Ile749Met) c.6C>G (p.Ile2Met) c.177C>G (p.Ile59Met) c.2292C>G (p.Ile764Met) | |
2 | g.26477717G>T | CA425360163 | OTOF | c.2247C>A (p.Ile749=) c.6C>A (p.Ile2=) c.177C>A (p.Ile59=) c.2292C>A (p.Ile764=) | |
2 | g.26477718A= | CA1239830445 | OTOF | c.2246T= (p.Ile749=) c.5T= (p.Ile2=) c.176T= (p.Ile59=) c.2291T= (p.Ile764=) | |
2 | g.26477718A>C | CA346123957 | OTOF | c.2246T>G (p.Ile749Ser) c.5T>G (p.Ile2Ser) c.176T>G (p.Ile59Ser) c.2291T>G (p.Ile764Ser) | |
2 | g.26477718A>G | CA346123960 | OTOF | c.2246T>C (p.Ile749Thr) c.5T>C (p.Ile2Thr) c.176T>C (p.Ile59Thr) c.2291T>C (p.Ile764Thr) | |
2 | g.26477718A>T | CA1563995 | OTOF | c.2246T>A (p.Ile749Asn) c.5T>A (p.Ile2Asn) c.176T>A (p.Ile59Asn) c.2291T>A (p.Ile764Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477719T>A | CA1563996 | OTOF | c.2245A>T (p.Ile749Phe) c.4A>T (p.Ile2Phe) c.175A>T (p.Ile59Phe) c.2290A>T (p.Ile764Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477719T>C | CA346123966 | OTOF | c.2245A>G (p.Ile749Val) c.4A>G (p.Ile2Val) c.175A>G (p.Ile59Val) c.2290A>G (p.Ile764Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477719T>G | CA346123963 | OTOF | c.2245A>C (p.Ile749Leu) c.4A>C (p.Ile2Leu) c.175A>C (p.Ile59Leu) c.2290A>C (p.Ile764Leu) | |
2 | g.26477719T= | CA1239830449 | OTOF | c.2245A= (p.Ile749=) c.4A= (p.Ile2=) c.175A= (p.Ile59=) c.2290A= (p.Ile764=) | |
2 | g.26477720C>A | CA346123980 | OTOF | c.2244G>T (p.Met748Ile) c.3G>T (p.Met1Ile) c.174G>T (p.Met58Ile) c.2289G>T (p.Met763Ile) | |
2 | g.26477720C= | CA1239830450 | OTOF | c.2244G= (p.Met748=) c.3G= (p.Met1=) c.174G= (p.Met58=) c.2289G= (p.Met763=) | |
2 | g.26477720C>G | CA346123971 | OTOF | c.2244G>C (p.Met748Ile) c.3G>C (p.Met1Ile) c.174G>C (p.Met58Ile) c.2289G>C (p.Met763Ile) | |
2 | g.26477720C>T | CA346123979 | OTOF | c.2244G>A (p.Met748Ile) c.3G>A (p.Met1Ile) c.174G>A (p.Met58Ile) c.2289G>A (p.Met763Ile) | dbSNP gnomAD v4 |
2 | g.26477721A= | CA1239830452 | OTOF | c.2243T= (p.Met748=) c.2T= (p.Met1=) c.173T= (p.Met58=) c.2288T= (p.Met763=) | |
2 | g.26477721A>C | CA346123981 | OTOF | c.2243T>G (p.Met748Arg) c.2T>G (p.Met1Arg) c.173T>G (p.Met58Arg) c.2288T>G (p.Met763Arg) | |
2 | g.26477721A>G | CA1563997 | OTOF | c.2243T>C (p.Met748Thr) c.2T>C (p.Met1Thr) c.173T>C (p.Met58Thr) c.2288T>C (p.Met763Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477721A>T | CA346123982 | OTOF | c.2243T>A (p.Met748Lys) c.2T>A (p.Met1Lys) c.173T>A (p.Met58Lys) c.2288T>A (p.Met763Lys) | |
2 | g.26477722T>A | CA346123989 | OTOF | c.2242A>T (p.Met748Leu) c.1A>T (p.Met1Leu) c.172A>T (p.Met58Leu) c.2287A>T (p.Met763Leu) | |
2 | g.26477722T>C | CA346123998 | OTOF | c.2242A>G (p.Met748Val) c.1A>G (p.Met1Val) c.172A>G (p.Met58Val) c.2287A>G (p.Met763Val) | gnomAD v4 |
2 | g.26477722T>G | CA346124003 | OTOF | c.2242A>C (p.Met748Leu) c.1A>C (p.Met1Leu) c.172A>C (p.Met58Leu) c.2287A>C (p.Met763Leu) | |
2 | g.26477723C>A | CA346124005 | OTOF | c.2241G>T (p.Glu747Asp) c.-1G>T (n.-1G>T) c.171G>T (p.Glu57Asp) c.2286G>T (p.Glu762Asp) | |
2 | g.26477723C>G | CA346124007 | OTOF | c.2241G>C (p.Glu747Asp) c.-1G>C (n.-1G>C) c.171G>C (p.Glu57Asp) c.2286G>C (p.Glu762Asp) | |
2 | g.26477723C>T | CA425360165 | OTOF | c.2241G>A (p.Glu747=) c.-1G>A (n.-1G>A) c.171G>A (p.Glu57=) c.2286G>A (p.Glu762=) | gnomAD v4 |
2 | g.26477724T>A | CA346124008 | OTOF | c.2240A>T (p.Glu747Val) c.-2A>T (n.-2A>T) c.170A>T (p.Glu57Val) c.2285A>T (p.Glu762Val) | |
2 | g.26477724T>C | CA346124011 | OTOF | c.2240A>G (p.Glu747Gly) c.-2A>G (n.-2A>G) c.170A>G (p.Glu57Gly) c.2285A>G (p.Glu762Gly) | |
2 | g.26477724T>G | CA346124013 | OTOF | c.2240A>C (p.Glu747Ala) c.-2A>C (n.-2A>C) c.170A>C (p.Glu57Ala) c.2285A>C (p.Glu762Ala) | |
2 | g.26477725C>A | CA345101 | OTOF | c.2239G>T (p.Glu747Ter) c.-3G>T (n.-3G>T) c.169G>T (p.Glu57Ter) c.2284G>T (p.Glu762Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477725C= | CA1239830456 | OTOF | c.2239G= (p.Glu747=) c.-3G= (n.-3G=) c.169G= (p.Glu57=) c.2284G= (p.Glu762=) | |
2 | g.26477725C>G | CA346124017 | OTOF | c.2239G>C (p.Glu747Gln) c.-3G>C (n.-3G>C) c.169G>C (p.Glu57Gln) c.2284G>C (p.Glu762Gln) | |
2 | g.26477725C>T | CA346124019 | OTOF | c.2239G>A (p.Glu747Lys) c.-3G>A (n.-3G>A) c.169G>A (p.Glu57Lys) c.2284G>A (p.Glu762Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477726C>A | CA346124028 | OTOF | c.2238G>T (p.Gln746His) c.-4G>T (n.-4G>T) c.168G>T (p.Gln56His) c.2283G>T (p.Gln761His) | |
2 | g.26477726C>G | CA346124031 | OTOF | c.2238G>C (p.Gln746His) c.-4G>C (n.-4G>C) c.168G>C (p.Gln56His) c.2283G>C (p.Gln761His) | |
2 | g.26477726C>T | CA425360166 | OTOF | c.2238G>A (p.Gln746=) c.-4G>A (n.-4G>A) c.168G>A (p.Gln56=) c.2283G>A (p.Gln761=) | gnomAD v4 |
2 | g.26477727T>A | CA346124033 | OTOF | c.2237A>T (p.Gln746Leu) c.-5A>T (n.-5A>T) c.167A>T (p.Gln56Leu) c.2282A>T (p.Gln761Leu) | |
2 | g.26477727T>C | CA346124048 | OTOF | c.2237A>G (p.Gln746Arg) c.-5A>G (n.-5A>G) c.167A>G (p.Gln56Arg) c.2282A>G (p.Gln761Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477727T>G | CA346124051 | OTOF | c.2237A>C (p.Gln746Pro) c.-5A>C (n.-5A>C) c.167A>C (p.Gln56Pro) c.2282A>C (p.Gln761Pro) | |
2 | g.26477727T= | CA1239830457 | OTOF | c.2237A= (p.Gln746=) c.-5A= (n.-5A=) c.167A= (p.Gln56=) c.2282A= (p.Gln761=) | |
2 | g.26477728G>A | CA1563998 | OTOF | c.2236C>T (p.Gln746Ter) c.-6C>T (n.-6C>T) c.166C>T (p.Gln56Ter) c.2281C>T (p.Gln761Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477728G>C | CA346124055 | OTOF | c.2236C>G (p.Gln746Glu) c.-6C>G (n.-6C>G) c.166C>G (p.Gln56Glu) c.2281C>G (p.Gln761Glu) | |
2 | g.26477728G= | CA1239830459 | OTOF | c.2236C= (p.Gln746=) c.-6C= (n.-6C=) c.166C= (p.Gln56=) c.2281C= (p.Gln761=) | |
2 | g.26477728G>T | CA346124057 | OTOF | c.2236C>A (p.Gln746Lys) c.-6C>A (n.-6C>A) c.166C>A (p.Gln56Lys) c.2281C>A (p.Gln761Lys) | gnomAD v4 |
2 | g.26477729T>A | CA425360167 | OTOF | c.2235A>T (p.Ile745=) c.-7A>T (n.-7A>T) c.165A>T (p.Ile55=) c.2280A>T (p.Ile760=) | COSMIC COSMIC |
2 | g.26477729T>C | CA346124060 | OTOF | c.2235A>G (p.Ile745Met) c.-7A>G (n.-7A>G) c.165A>G (p.Ile55Met) c.2280A>G (p.Ile760Met) | gnomAD v4 |
2 | g.26477729T>G | CA425360168 | OTOF | c.2235A>C (p.Ile745=) c.-7A>C (n.-7A>C) c.165A>C (p.Ile55=) c.2280A>C (p.Ile760=) | |
2 | g.26477730A= | CA1239830460 | OTOF | c.2234T= (p.Ile745=) c.-8T= (n.-8T=) c.164T= (p.Ile55=) c.2279T= (p.Ile760=) | |
2 | g.26477730A>C | CA346124064 | OTOF | c.2234T>G (p.Ile745Arg) c.-8T>G (n.-8T>G) c.164T>G (p.Ile55Arg) c.2279T>G (p.Ile760Arg) | |
2 | g.26477730A>G | CA1563999 | OTOF | c.2234T>C (p.Ile745Thr) c.-8T>C (n.-8T>C) c.164T>C (p.Ile55Thr) c.2279T>C (p.Ile760Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477730A>T | CA346124069 | OTOF | c.2234T>A (p.Ile745Lys) c.-8T>A (n.-8T>A) c.164T>A (p.Ile55Lys) c.2279T>A (p.Ile760Lys) | |
2 | g.26477731T>A | CA346124074 | OTOF | c.2233A>T (p.Ile745Leu) c.-9A>T (n.-9A>T) c.163A>T (p.Ile55Leu) c.2278A>T (p.Ile760Leu) | |
2 | g.26477731T>C | CA346124075 | OTOF | c.2233A>G (p.Ile745Val) c.-9A>G (n.-9A>G) c.163A>G (p.Ile55Val) c.2278A>G (p.Ile760Val) | dbSNP |
2 | g.26477731T>G | CA346124073 | OTOF | c.2233A>C (p.Ile745Leu) c.-9A>C (n.-9A>C) c.163A>C (p.Ile55Leu) c.2278A>C (p.Ile760Leu) | dbSNP |
2 | g.26477731T= | CA1239830461 | OTOF | c.2233A= (p.Ile745=) c.-9A= (n.-9A=) c.163A= (p.Ile55=) c.2278A= (p.Ile760=) | |
2 | g.26477732G>A | CA425360169 | OTOF | c.2232C>T (p.Asp744=) c.-10C>T (n.-10C>T) c.162C>T (p.Asp54=) c.2277C>T (p.Asp759=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477732G>C | CA346124078 | OTOF | c.2232C>G (p.Asp744Glu) c.-10C>G (n.-10C>G) c.162C>G (p.Asp54Glu) c.2277C>G (p.Asp759Glu) | |
2 | g.26477732G= | CA1239830463 | OTOF | c.2232C= (p.Asp744=) c.-10C= (n.-10C=) c.162C= (p.Asp54=) c.2277C= (p.Asp759=) | |
2 | g.26477732G>T | CA346124079 | OTOF | c.2232C>A (p.Asp744Glu) c.-10C>A (n.-10C>A) c.162C>A (p.Asp54Glu) c.2277C>A (p.Asp759Glu) | |
2 | g.26477733T>A | CA346124080 | OTOF | c.2231A>T (p.Asp744Val) c.-11A>T (n.-11A>T) c.161A>T (p.Asp54Val) c.2276A>T (p.Asp759Val) | |
2 | g.26477733T>C | CA346124082 | OTOF | c.2231A>G (p.Asp744Gly) c.-11A>G (n.-11A>G) c.161A>G (p.Asp54Gly) c.2276A>G (p.Asp759Gly) | |
2 | g.26477733T>G | CA346124083 | OTOF | c.2231A>C (p.Asp744Ala) c.-11A>C (n.-11A>C) c.161A>C (p.Asp54Ala) c.2276A>C (p.Asp759Ala) | |
2 | g.26477734C>A | CA346124089 | OTOF | c.2230G>T (p.Asp744Tyr) c.-12G>T (n.-12G>T) c.160G>T (p.Asp54Tyr) c.2275G>T (p.Asp759Tyr) | |
2 | g.26477734C= | CA1239830465 | OTOF | c.2230G= (p.Asp744=) c.-12G= (n.-12G=) c.160G= (p.Asp54=) c.2275G= (p.Asp759=) | |
2 | g.26477734C>G | CA346124093 | OTOF | c.2230G>C (p.Asp744His) c.-12G>C (n.-12G>C) c.160G>C (p.Asp54His) c.2275G>C (p.Asp759His) | |
2 | g.26477734C>T | CA1564000 | OTOF | c.2230G>A (p.Asp744Asn) c.-12G>A (n.-12G>A) c.160G>A (p.Asp54Asn) c.2275G>A (p.Asp759Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477735G>A | CA1564001 | OTOF | c.2229C>T (p.Asn743=) c.-13C>T (n.-13C>T) c.159C>T (p.Asn53=) c.2274C>T (p.Asn758=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.26477735G>C | CA346124112 | OTOF | c.2229C>G (p.Asn743Lys) c.-13C>G (n.-13C>G) c.159C>G (p.Asn53Lys) c.2274C>G (p.Asn758Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477735G= | CA1239830467 | OTOF | c.2229C= (p.Asn743=) c.-13C= (n.-13C=) c.159C= (p.Asn53=) c.2274C= (p.Asn758=) | |
2 | g.26477735G>T | CA346124116 | OTOF | c.2229C>A (p.Asn743Lys) c.-13C>A (n.-13C>A) c.159C>A (p.Asn53Lys) c.2274C>A (p.Asn758Lys) | |
2 | g.26477736T>A | CA346124117 | OTOF | c.2228A>T (p.Asn743Ile) c.-14A>T (n.-14A>T) c.158A>T (p.Asn53Ile) c.2273A>T (p.Asn758Ile) | |
2 | g.26477736T>C | CA346124118 | OTOF | c.2228A>G (p.Asn743Ser) c.-14A>G (n.-14A>G) c.158A>G (p.Asn53Ser) c.2273A>G (p.Asn758Ser) | |
2 | g.26477736T>G | CA346124135 | OTOF | c.2228A>C (p.Asn743Thr) c.-14A>C (n.-14A>C) c.158A>C (p.Asn53Thr) c.2273A>C (p.Asn758Thr) | |
2 | g.26477737T>A | CA346124142 | OTOF | c.2227A>T (p.Asn743Tyr) c.-15A>T (n.-15A>T) c.157A>T (p.Asn53Tyr) c.2272A>T (p.Asn758Tyr) | |
2 | g.26477737T>C | CA1564002 | OTOF | c.2227A>G (p.Asn743Asp) c.-15A>G (n.-15A>G) c.157A>G (p.Asn53Asp) c.2272A>G (p.Asn758Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477737T>G | CA346124140 | OTOF | c.2227A>C (p.Asn743His) c.-15A>C (n.-15A>C) c.157A>C (p.Asn53His) c.2272A>C (p.Asn758His) | |
2 | g.26477737T= | CA1239830469 | OTOF | c.2227A= (p.Asn743=) c.-15A= (n.-15A=) c.157A= (p.Asn53=) c.2272A= (p.Asn758=) | |
2 | g.26477738C>A | CA425360171 | OTOF | c.2226G>T (p.Leu742=) c.-16G>T (n.-16G>T) c.156G>T (p.Leu52=) c.2271G>T (p.Leu757=) | |
2 | g.26477738C>G | CA425360170 | OTOF | c.2226G>C (p.Leu742=) c.-16G>C (n.-16G>C) c.156G>C (p.Leu52=) c.2271G>C (p.Leu757=) | |
2 | g.26477738C>T | CA425360172 | OTOF | c.2226G>A (p.Leu742=) c.-16G>A (n.-16G>A) c.156G>A (p.Leu52=) c.2271G>A (p.Leu757=) | gnomAD v4 |
2 | g.26477739A>C | CA346124143 | OTOF | c.2225T>G (p.Leu742Arg) c.-17T>G (n.-17T>G) c.155T>G (p.Leu52Arg) c.2270T>G (p.Leu757Arg) | |
2 | g.26477739A>G | CA346124144 | OTOF | c.2225T>C (p.Leu742Pro) c.-17T>C (n.-17T>C) c.155T>C (p.Leu52Pro) c.2270T>C (p.Leu757Pro) | |
2 | g.26477739A>T | CA346124145 | OTOF | c.2225T>A (p.Leu742Gln) c.-17T>A (n.-17T>A) c.155T>A (p.Leu52Gln) c.2270T>A (p.Leu757Gln) | |
2 | g.26477740G>A | CA425360173 | OTOF | c.2224C>T (p.Leu742=) c.-18C>T (n.-18C>T) c.154C>T (p.Leu52=) c.2269C>T (p.Leu757=) | |
2 | g.26477740G>C | CA346124148 | OTOF | c.2224C>G (p.Leu742Val) c.-18C>G (n.-18C>G) c.154C>G (p.Leu52Val) c.2269C>G (p.Leu757Val) | gnomAD v4 |
2 | g.26477740G>T | CA346124157 | OTOF | c.2224C>A (p.Leu742Met) c.-18C>A (n.-18C>A) c.154C>A (p.Leu52Met) c.2269C>A (p.Leu757Met) | dbSNP |
2 | g.26477741G>A | CA425360174 | OTOF | c.2223C>T (p.Gly741=) c.-19C>T (n.-19C>T) c.153C>T (p.Gly51=) c.2268C>T (p.Gly756=) | gnomAD v4 |
2 | g.26477741G>C | CA425360175 | OTOF | c.2223C>G (p.Gly741=) c.-19C>G (n.-19C>G) c.153C>G (p.Gly51=) c.2268C>G (p.Gly756=) | |
2 | g.26477741G>T | CA425360176 | OTOF | c.2223C>A (p.Gly741=) c.-19C>A (n.-19C>A) c.153C>A (p.Gly51=) c.2268C>A (p.Gly756=) | ClinVar |
2 | g.26477742C>A | CA44398729 | OTOF | c.2222G>T (p.Gly741Val) c.-20G>T (n.-20G>T) c.152G>T (p.Gly51Val) c.2267G>T (p.Gly756Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477742C= | CA1239830471 | OTOF | c.2222G= (p.Gly741=) c.-20G= (n.-20G=) c.152G= (p.Gly51=) c.2267G= (p.Gly756=) | |
2 | g.26477742C>G | CA346124164 | OTOF | c.2222G>C (p.Gly741Ala) c.-20G>C (n.-20G>C) c.152G>C (p.Gly51Ala) c.2267G>C (p.Gly756Ala) | gnomAD v4 |
2 | g.26477742C>T | CA346124170 | OTOF | c.2222G>A (p.Gly741Asp) c.-20G>A (n.-20G>A) c.152G>A (p.Gly51Asp) c.2267G>A (p.Gly756Asp) | |
2 | g.26477743C>A | CA346124188 | OTOF | c.2221G>T (p.Gly741Cys) c.-21G>T (n.-21G>T) c.151G>T (p.Gly51Cys) c.2266G>T (p.Gly756Cys) | |
2 | g.26477743C= | CA1239830472 | OTOF | c.2221G= (p.Gly741=) c.-21G= (n.-21G=) c.151G= (p.Gly51=) c.2266G= (p.Gly756=) | |
2 | g.26477743C>G | CA346124191 | OTOF | c.2221G>C (p.Gly741Arg) c.-21G>C (n.-21G>C) c.151G>C (p.Gly51Arg) c.2266G>C (p.Gly756Arg) | dbSNP |
2 | g.26477743C>T | CA346124207 | OTOF | c.2221G>A (p.Gly741Ser) c.-21G>A (n.-21G>A) c.151G>A (p.Gly51Ser) c.2266G>A (p.Gly756Ser) | |
2 | g.26477744T>A | CA346124210 | OTOF | c.2220A>T (p.Glu740Asp) c.-22A>T (n.-22A>T) c.150A>T (p.Glu50Asp) c.2265A>T (p.Glu755Asp) | |
2 | g.26477744T>C | CA425360177 | OTOF | c.2220A>G (p.Glu740=) c.-22A>G (n.-22A>G) c.150A>G (p.Glu50=) c.2265A>G (p.Glu755=) | |
2 | g.26477744T>G | CA346124214 | OTOF | c.2220A>C (p.Glu740Asp) c.-22A>C (n.-22A>C) c.150A>C (p.Glu50Asp) c.2265A>C (p.Glu755Asp) | |
2 | g.26477745T>A | CA346124215 | OTOF | c.2219A>T (p.Glu740Val) c.-23A>T (n.-23A>T) c.149A>T (p.Glu50Val) c.2264A>T (p.Glu755Val) | |
2 | g.26477745T>C | CA346124224 | OTOF | c.2219A>G (p.Glu740Gly) c.-23A>G (n.-23A>G) c.149A>G (p.Glu50Gly) c.2264A>G (p.Glu755Gly) | gnomAD v4 |
2 | g.26477745T>G | CA346124217 | OTOF | c.2219A>C (p.Glu740Ala) c.-23A>C (n.-23A>C) c.149A>C (p.Glu50Ala) c.2264A>C (p.Glu755Ala) | |
2 | g.26477746C>A | CA346124227 | OTOF | c.2218G>T (p.Glu740Ter) c.-24G>T (n.-24G>T) c.148G>T (p.Glu50Ter) c.2263G>T (p.Glu755Ter) | |
2 | g.26477746C= | CA1239830474 | OTOF | c.2218G= (p.Glu740=) c.-24G= (n.-24G=) c.148G= (p.Glu50=) c.2263G= (p.Glu755=) | |
2 | g.26477746C>G | CA346124232 | OTOF | c.2218G>C (p.Glu740Gln) c.-24G>C (n.-24G>C) c.148G>C (p.Glu50Gln) c.2263G>C (p.Glu755Gln) | |
2 | g.26477746C>T | CA1564003 | OTOF | c.2218G>A (p.Glu740Lys) c.-24G>A (n.-24G>A) c.148G>A (p.Glu50Lys) c.2263G>A (p.Glu755Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477747T>A | CA346124235 | OTOF | c.2217A>T (p.Glu739Asp) c.-25A>T (n.-25A>T) c.147A>T (p.Glu49Asp) c.2262A>T (p.Glu754Asp) | |
2 | g.26477747T>C | CA425360178 | OTOF | c.2217A>G (p.Glu739=) c.-25A>G (n.-25A>G) c.147A>G (p.Glu49=) c.2262A>G (p.Glu754=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477747T>G | CA346124238 | OTOF | c.2217A>C (p.Glu739Asp) c.-25A>C (n.-25A>C) c.147A>C (p.Glu49Asp) c.2262A>C (p.Glu754Asp) | |
2 | g.26477747T= | CA1239830475 | OTOF | c.2217A= (p.Glu739=) c.-25A= (n.-25A=) c.147A= (p.Glu49=) c.2262A= (p.Glu754=) | |
2 | g.26477748T>A | CA346124243 | OTOF | c.2216A>T (p.Glu739Val) c.-26A>T (n.-26A>T) c.146A>T (p.Glu49Val) c.2261A>T (p.Glu754Val) | |
2 | g.26477748T>C | CA346124244 | OTOF | c.2216A>G (p.Glu739Gly) c.-26A>G (n.-26A>G) c.146A>G (p.Glu49Gly) c.2261A>G (p.Glu754Gly) | |
2 | g.26477748T>G | CA346124245 | OTOF | c.2216A>C (p.Glu739Ala) c.-26A>C (n.-26A>C) c.146A>C (p.Glu49Ala) c.2261A>C (p.Glu754Ala) | |
2 | g.26477749C>A | CA346124247 | OTOF | c.2215G>T (p.Glu739Ter) c.-27G>T (n.-27G>T) c.145G>T (p.Glu49Ter) c.2260G>T (p.Glu754Ter) | |
2 | g.26477749C= | CA1239830477 | OTOF | c.2215G= (p.Glu739=) c.-27G= (n.-27G=) c.145G= (p.Glu49=) c.2260G= (p.Glu754=) | |
2 | g.26477749C>G | CA346124249 | OTOF | c.2215G>C (p.Glu739Gln) c.-27G>C (n.-27G>C) c.145G>C (p.Glu49Gln) c.2260G>C (p.Glu754Gln) | |
2 | g.26477749C>T | CA44398733 | OTOF | c.2215G>A (p.Glu739Lys) c.-27G>A (n.-27G>A) c.145G>A (p.Glu49Lys) c.2260G>A (p.Glu754Lys) | dbSNP gnomAD v4 |
2 | g.26477750C>A | CA346124254 | OTOF | c.2215-1G>T (n.2215-1G>T) c.-27-1G>T (n.-27-1G>T) c.-28G>T (n.-28G>T) c.144G>T (p.Gln48His) c.2260-1G>T (n.2260-1G>T) | |
2 | g.26477750C= | CA1239830480 | OTOF | c.2215-1G= (n.2215-1G=) c.-27-1G= (n.-27-1G=) c.-28G= (n.-28G=) c.144G= (p.Gln48=) c.2260-1G= (n.2260-1G=) | |
2 | g.26477750C>G | CA346124255 | OTOF | c.2215-1G>C (n.2215-1G>C) c.-27-1G>C (n.-27-1G>C) c.-28G>C (n.-28G>C) c.144G>C (p.Gln48His) c.2260-1G>C (n.2260-1G>C) | ClinVar gnomAD v4 |
2 | g.26477750C>T | CA346124256 | OTOF | c.2215-1G>A (n.2215-1G>A) c.-27-1G>A (n.-27-1G>A) c.-28G>A (n.-28G>A) c.144G>A (p.Gln48=) c.2260-1G>A (n.2260-1G>A) | ClinVar dbSNP COSMIC COSMIC |
2 | g.26477751T>A | CA346124279 | OTOF | c.2215-2A>T (n.2215-2A>T) c.-27-2A>T (n.-27-2A>T) c.-29A>T (n.-29A>T) c.143A>T (p.Gln48Leu) c.2260-2A>T (n.2260-2A>T) | |
2 | g.26477751T>C | CA346124260 | OTOF | c.2215-2A>G (n.2215-2A>G) c.-27-2A>G (n.-27-2A>G) c.-29A>G (n.-29A>G) c.143A>G (p.Gln48Arg) c.2260-2A>G (n.2260-2A>G) | dbSNP gnomAD v4 |
2 | g.26477751T>G | CA346124258 | OTOF | c.2215-2A>C (n.2215-2A>C) c.-27-2A>C (n.-27-2A>C) c.-29A>C (n.-29A>C) c.143A>C (p.Gln48Pro) c.2260-2A>C (n.2260-2A>C) | |
2 | g.26477751T= | CA1239830482 | OTOF | c.2215-2A= (n.2215-2A=) c.-27-2A= (n.-27-2A=) c.-29A= (n.-29A=) c.143A= (p.Gln48=) c.2260-2A= (n.2260-2A=) | |
2 | g.26477752G>A | CA346124291 | OTOF | c.2215-3C>T (n.2215-3C>T) c.-27-3C>T (n.-27-3C>T) c.-30C>T (n.-30C>T) c.142C>T (p.Gln48Ter) c.2260-3C>T (n.2260-3C>T) | dbSNP gnomAD v4 |
2 | g.26477752G>C | CA346124293 | OTOF | c.2215-3C>G (n.2215-3C>G) c.-27-3C>G (n.-27-3C>G) c.-30C>G (n.-30C>G) c.142C>G (p.Gln48Glu) c.2260-3C>G (n.2260-3C>G) | |
2 | g.26477752G= | CA1239830484 | OTOF | c.2215-3C= (n.2215-3C=) c.-27-3C= (n.-27-3C=) c.-30C= (n.-30C=) c.142C= (p.Gln48=) c.2260-3C= (n.2260-3C=) | |
2 | g.26477752G>T | CA346124296 | OTOF | c.2215-3C>A (n.2215-3C>A) c.-27-3C>A (n.-27-3C>A) c.-30C>A (n.-30C>A) c.142C>A (p.Gln48Lys) c.2260-3C>A (n.2260-3C>A) | |
2 | g.26477754G>A | CA346124298 | OTOF | c.2215-5C>T (n.2215-5C>T) c.-27-5C>T (n.-27-5C>T) c.-32C>T (n.-32C>T) c.140C>T (p.Ser47Leu) c.2260-5C>T (n.2260-5C>T) | |
2 | g.26477754G>C | CA346124300 | OTOF | c.2215-5C>G (n.2215-5C>G) c.-27-5C>G (n.-27-5C>G) c.-32C>G (n.-32C>G) c.140C>G (p.Ser47Ter) c.2260-5C>G (n.2260-5C>G) | |
2 | g.26477754G>T | CA346124303 | OTOF | c.2215-5C>A (n.2215-5C>A) c.-27-5C>A (n.-27-5C>A) c.-32C>A (n.-32C>A) c.140C>A (p.Ser47Ter) c.2260-5C>A (n.2260-5C>A) | |
2 | g.26477755A>C | CA346124310 | OTOF | c.2215-6T>G (n.2215-6T>G) c.-27-6T>G (n.-27-6T>G) c.-33T>G (n.-33T>G) c.139T>G (p.Ser47Ala) c.2260-6T>G (n.2260-6T>G) | |
2 | g.26477755A>G | CA346124311 | OTOF | c.2215-6T>C (n.2215-6T>C) c.-27-6T>C (n.-27-6T>C) c.-33T>C (n.-33T>C) c.139T>C (p.Ser47Pro) c.2260-6T>C (n.2260-6T>C) | |
2 | g.26477755A>T | CA346124313 | OTOF | c.2215-6T>A (n.2215-6T>A) c.-27-6T>A (n.-27-6T>A) c.-33T>A (n.-33T>A) c.139T>A (p.Ser47Thr) c.2260-6T>A (n.2260-6T>A) | |
2 | g.26477756A>C | CA346124320 | OTOF | c.2215-7T>G (n.2215-7T>G) c.-27-7T>G (n.-27-7T>G) c.-34T>G (n.-34T>G) c.138T>G (p.Asp46Glu) c.2260-7T>G (n.2260-7T>G) | |
2 | g.26477756A>T | CA346124322 | OTOF | c.2215-7T>A (n.2215-7T>A) c.-27-7T>A (n.-27-7T>A) c.-34T>A (n.-34T>A) c.138T>A (p.Asp46Glu) c.2260-7T>A (n.2260-7T>A) | |
2 | g.26477757T>A | CA346124331 | OTOF | c.2215-8A>T (n.2215-8A>T) c.-27-8A>T (n.-27-8A>T) c.-35A>T (n.-35A>T) c.137A>T (p.Asp46Val) c.2260-8A>T (n.2260-8A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477757T>C | CA346124334 | OTOF | c.2215-8A>G (n.2215-8A>G) c.-27-8A>G (n.-27-8A>G) c.-35A>G (n.-35A>G) c.137A>G (p.Asp46Gly) c.2260-8A>G (n.2260-8A>G) | |
2 | g.26477757T>G | CA346124338 | OTOF | c.2215-8A>C (n.2215-8A>C) c.-27-8A>C (n.-27-8A>C) c.-35A>C (n.-35A>C) c.137A>C (p.Asp46Ala) c.2260-8A>C (n.2260-8A>C) | |
2 | g.26477757T= | CA1239830486 | OTOF | c.2215-8A= (n.2215-8A=) c.-27-8A= (n.-27-8A=) c.-35A= (n.-35A=) c.137A= (p.Asp46=) c.2260-8A= (n.2260-8A=) | |
2 | g.26477758C>A | CA346124344 | OTOF | c.2215-9G>T (n.2215-9G>T) c.-27-9G>T (n.-27-9G>T) c.-36G>T (n.-36G>T) c.136G>T (p.Asp46Tyr) c.2260-9G>T (n.2260-9G>T) | |
2 | g.26477758C>G | CA346124343 | OTOF | c.2215-9G>C (n.2215-9G>C) c.-27-9G>C (n.-27-9G>C) c.-36G>C (n.-36G>C) c.136G>C (p.Asp46His) c.2260-9G>C (n.2260-9G>C) | |
2 | g.26477758C>T | CA346124341 | OTOF | c.2215-9G>A (n.2215-9G>A) c.-27-9G>A (n.-27-9G>A) c.-36G>A (n.-36G>A) c.136G>A (p.Asp46Asn) c.2260-9G>A (n.2260-9G>A) | |
2 | g.26477759A= | CA1239830487 | OTOF | c.2215-10T= (n.2215-10T=) c.-27-10T= (n.-27-10T=) c.-37T= (n.-37T=) c.135T= (p.Pro45=) c.2260-10T= (n.2260-10T=) | |
2 | g.26477759A>G | CA44398735 | OTOF | c.2215-10T>C (n.2215-10T>C) c.-27-10T>C (n.-27-10T>C) c.-37T>C (n.-37T>C) c.135T>C (p.Pro45=) c.2260-10T>C (n.2260-10T>C) | dbSNP |
2 | g.26477760G>A | CA346124349 | OTOF | c.2215-11C>T (n.2215-11C>T) c.-27-11C>T (n.-27-11C>T) c.-38C>T (n.-38C>T) c.134C>T (p.Pro45Leu) c.2260-11C>T (n.2260-11C>T) | |
2 | g.26477760G>C | CA346124350 | OTOF | c.2215-11C>G (n.2215-11C>G) c.-27-11C>G (n.-27-11C>G) c.-38C>G (n.-38C>G) c.134C>G (p.Pro45Arg) c.2260-11C>G (n.2260-11C>G) | |
2 | g.26477760G>T | CA346124351 | OTOF | c.2215-11C>A (n.2215-11C>A) c.-27-11C>A (n.-27-11C>A) c.-38C>A (n.-38C>A) c.134C>A (p.Pro45His) c.2260-11C>A (n.2260-11C>A) | |
2 | g.26477761G>A | CA346124354 | OTOF | c.2215-12C>T (n.2215-12C>T) c.-27-12C>T (n.-27-12C>T) c.-39C>T (n.-39C>T) c.133C>T (p.Pro45Ser) c.2260-12C>T (n.2260-12C>T) | |
2 | g.26477761G>C | CA346124355 | OTOF | c.2215-12C>G (n.2215-12C>G) c.-27-12C>G (n.-27-12C>G) c.-39C>G (n.-39C>G) c.133C>G (p.Pro45Ala) c.2260-12C>G (n.2260-12C>G) | gnomAD v4 |
2 | g.26477761G= | CA1239830490 | OTOF | c.2215-12C= (n.2215-12C=) c.-27-12C= (n.-27-12C=) c.-39C= (n.-39C=) c.133C= (p.Pro45=) c.2260-12C= (n.2260-12C=) | |
2 | g.26477761G>T | CA346124357 | OTOF | c.2215-12C>A (n.2215-12C>A) c.-27-12C>A (n.-27-12C>A) c.-39C>A (n.-39C>A) c.133C>A (p.Pro45Thr) c.2260-12C>A (n.2260-12C>A) | dbSNP |
2 | g.26477763G>A | CA1564004 | OTOF | c.2215-14C>T (n.2215-14C>T) c.-27-14C>T (n.-27-14C>T) c.-41C>T (n.-41C>T) c.131C>T (p.Thr44Ile) c.2260-14C>T (n.2260-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477763G>C | CA346124360 | OTOF | c.2215-14C>G (n.2215-14C>G) c.-27-14C>G (n.-27-14C>G) c.-41C>G (n.-41C>G) c.131C>G (p.Thr44Ser) c.2260-14C>G (n.2260-14C>G) | |
2 | g.26477763G= | CA1239830492 | OTOF | c.2215-14C= (n.2215-14C=) c.-27-14C= (n.-27-14C=) c.-41C= (n.-41C=) c.131C= (p.Thr44=) c.2260-14C= (n.2260-14C=) | |
2 | g.26477763G>T | CA346124358 | OTOF | c.2215-14C>A (n.2215-14C>A) c.-27-14C>A (n.-27-14C>A) c.-41C>A (n.-41C>A) c.131C>A (p.Thr44Asn) c.2260-14C>A (n.2260-14C>A) | |
2 | g.26477764T>A | CA346124373 | OTOF | c.2215-15A>T (n.2215-15A>T) c.-27-15A>T (n.-27-15A>T) c.-42A>T (n.-42A>T) c.130A>T (p.Thr44Ser) c.2260-15A>T (n.2260-15A>T) | |
2 | g.26477764T>C | CA346124375 | OTOF | c.2215-15A>G (n.2215-15A>G) c.-27-15A>G (n.-27-15A>G) c.-42A>G (n.-42A>G) c.130A>G (p.Thr44Ala) c.2260-15A>G (n.2260-15A>G) | gnomAD v4 |
2 | g.26477764T>G | CA346124386 | OTOF | c.2215-15A>C (n.2215-15A>C) c.-27-15A>C (n.-27-15A>C) c.-42A>C (n.-42A>C) c.130A>C (p.Thr44Pro) c.2260-15A>C (n.2260-15A>C) | |
2 | g.26477765G>A | CA1564005 | OTOF | c.2215-16C>T (n.2215-16C>T) c.-27-16C>T (n.-27-16C>T) c.-43C>T (n.-43C>T) c.129C>T (p.His43=) c.2260-16C>T (n.2260-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477765G>C | CA346124392 | OTOF | c.2215-16C>G (n.2215-16C>G) c.-27-16C>G (n.-27-16C>G) c.-43C>G (n.-43C>G) c.129C>G (p.His43Gln) c.2260-16C>G (n.2260-16C>G) | |
2 | g.26477765G= | CA1239830496 | OTOF | c.2215-16C= (n.2215-16C=) c.-27-16C= (n.-27-16C=) c.-43C= (n.-43C=) c.129C= (p.His43=) c.2260-16C= (n.2260-16C=) | |
2 | g.26477765G>T | CA346124393 | OTOF | c.2215-16C>A (n.2215-16C>A) c.-27-16C>A (n.-27-16C>A) c.-43C>A (n.-43C>A) c.129C>A (p.His43Gln) c.2260-16C>A (n.2260-16C>A) |