Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26477432G>A | CA346123063 | OTOF | c.2390C>T (p.Ser797Phe) c.149C>T (p.Ser50Phe) c.320C>T (p.Ser107Phe) c.2435C>T (p.Ser812Phe) | |
2 | g.26477432G>C | CA346123066 | OTOF | c.2390C>G (p.Ser797Cys) c.149C>G (p.Ser50Cys) c.320C>G (p.Ser107Cys) c.2435C>G (p.Ser812Cys) | |
2 | g.26477432G>T | CA346123069 | OTOF | c.2390C>A (p.Ser797Tyr) c.149C>A (p.Ser50Tyr) c.320C>A (p.Ser107Tyr) c.2435C>A (p.Ser812Tyr) | |
2 | g.26477433A>C | CA346123073 | OTOF | c.2389T>G (p.Ser797Ala) c.148T>G (p.Ser50Ala) c.319T>G (p.Ser107Ala) c.2434T>G (p.Ser812Ala) | |
2 | g.26477433A>G | CA346123074 | OTOF | c.2389T>C (p.Ser797Pro) c.148T>C (p.Ser50Pro) c.319T>C (p.Ser107Pro) c.2434T>C (p.Ser812Pro) | |
2 | g.26477433A>T | CA346123075 | OTOF | c.2389T>A (p.Ser797Thr) c.148T>A (p.Ser50Thr) c.319T>A (p.Ser107Thr) c.2434T>A (p.Ser812Thr) | |
2 | g.26477434C>A | CA346123085 | OTOF | c.2388G>T (p.Lys796Asn) c.147G>T (p.Lys49Asn) c.318G>T (p.Lys106Asn) c.2433G>T (p.Lys811Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477434C= | CA1239830069 | OTOF | c.2388G= (p.Lys796=) c.147G= (p.Lys49=) c.318G= (p.Lys106=) c.2433G= (p.Lys811=) | |
2 | g.26477434C>G | CA346123079 | OTOF | c.2388G>C (p.Lys796Asn) c.147G>C (p.Lys49Asn) c.318G>C (p.Lys106Asn) c.2433G>C (p.Lys811Asn) | |
2 | g.26477434C>T | CA425360055 | OTOF | c.2388G>A (p.Lys796=) c.147G>A (p.Lys49=) c.318G>A (p.Lys106=) c.2433G>A (p.Lys811=) | |
2 | g.26477435T>A | CA346123091 | OTOF | c.2387A>T (p.Lys796Met) c.146A>T (p.Lys49Met) c.317A>T (p.Lys106Met) c.2432A>T (p.Lys811Met) | |
2 | g.26477435T>C | CA346123101 | OTOF | c.2387A>G (p.Lys796Arg) c.146A>G (p.Lys49Arg) c.317A>G (p.Lys106Arg) c.2432A>G (p.Lys811Arg) | |
2 | g.26477435T>G | CA346123093 | OTOF | c.2387A>C (p.Lys796Thr) c.146A>C (p.Lys49Thr) c.317A>C (p.Lys106Thr) c.2432A>C (p.Lys811Thr) | |
2 | g.26477436T>A | CA346123104 | OTOF | c.2386A>T (p.Lys796Ter) c.145A>T (p.Lys49Ter) c.316A>T (p.Lys106Ter) c.2431A>T (p.Lys811Ter) | |
2 | g.26477436T>C | CA346123106 | OTOF | c.2386A>G (p.Lys796Glu) c.145A>G (p.Lys49Glu) c.316A>G (p.Lys106Glu) c.2431A>G (p.Lys811Glu) | gnomAD v4 |
2 | g.26477436T>G | CA346123108 | OTOF | c.2386A>C (p.Lys796Gln) c.145A>C (p.Lys49Gln) c.316A>C (p.Lys106Gln) c.2431A>C (p.Lys811Gln) | |
2 | g.26477437G>A | CA425360061 | OTOF | c.2385C>T (p.Leu795=) c.144C>T (p.Leu48=) c.315C>T (p.Leu105=) c.2430C>T (p.Leu810=) | gnomAD v4 |
2 | g.26477437G>C | CA425360062 | OTOF | c.2385C>G (p.Leu795=) c.144C>G (p.Leu48=) c.315C>G (p.Leu105=) c.2430C>G (p.Leu810=) | |
2 | g.26477437G>T | CA425360063 | OTOF | c.2385C>A (p.Leu795=) c.144C>A (p.Leu48=) c.315C>A (p.Leu105=) c.2430C>A (p.Leu810=) | gnomAD v4 |
2 | g.26477438_26477440del | CA2698921354 | OTOF | c.2383_2385del (p.Leu795del) c.142_144del (p.Leu48del) c.313_315del (p.Leu105del) c.2428_2430del (p.Leu810del) | dbSNP |
2 | g.26477438A>C | CA346123111 | OTOF | c.2384T>G (p.Leu795Arg) c.143T>G (p.Leu48Arg) c.314T>G (p.Leu105Arg) c.2429T>G (p.Leu810Arg) | |
2 | g.26477438A>G | CA346123115 | OTOF | c.2384T>C (p.Leu795Pro) c.143T>C (p.Leu48Pro) c.314T>C (p.Leu105Pro) c.2429T>C (p.Leu810Pro) | gnomAD v4 |
2 | g.26477438A>T | CA346123119 | OTOF | c.2384T>A (p.Leu795His) c.143T>A (p.Leu48His) c.314T>A (p.Leu105His) c.2429T>A (p.Leu810His) | gnomAD v4 |
2 | g.26477439G>A | CA346123123 | OTOF | c.2383C>T (p.Leu795Phe) c.142C>T (p.Leu48Phe) c.313C>T (p.Leu105Phe) c.2428C>T (p.Leu810Phe) | ClinVar dbSNP gnomAD v4 |
2 | g.26477439G>C | CA346123126 | OTOF | c.2383C>G (p.Leu795Val) c.142C>G (p.Leu48Val) c.313C>G (p.Leu105Val) c.2428C>G (p.Leu810Val) | gnomAD v4 |
2 | g.26477439G>T | CA346123129 | OTOF | c.2383C>A (p.Leu795Ile) c.142C>A (p.Leu48Ile) c.313C>A (p.Leu105Ile) c.2428C>A (p.Leu810Ile) | |
2 | g.26477440del | CA2586968837 | OTOF | c.2383del (p.Leu795SerfsTer5) c.142del (p.Leu48SerfsTer5) c.313del (p.Leu105SerfsTer5) c.2428del (p.Leu810SerfsTer5) | |
2 | g.26477440G>A | CA425360069 | OTOF | c.2382C>T (p.Arg794=) c.141C>T (p.Arg47=) c.312C>T (p.Arg104=) c.2427C>T (p.Arg809=) | gnomAD v4 |
2 | g.26477440G>C | CA425360072 | OTOF | c.2382C>G (p.Arg794=) c.141C>G (p.Arg47=) c.312C>G (p.Arg104=) c.2427C>G (p.Arg809=) | |
2 | g.26477440G>T | CA425360068 | OTOF | c.2382C>A (p.Arg794=) c.141C>A (p.Arg47=) c.312C>A (p.Arg104=) c.2427C>A (p.Arg809=) | |
2 | g.26477441C>A | CA346123134 | OTOF | c.2381G>T (p.Arg794Leu) c.140G>T (p.Arg47Leu) c.311G>T (p.Arg104Leu) c.2426G>T (p.Arg809Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477441C= | CA1239830073 | OTOF | c.2381G= (p.Arg794=) c.140G= (p.Arg47=) c.311G= (p.Arg104=) c.2426G= (p.Arg809=) | |
2 | g.26477441C>G | CA346123137 | OTOF | c.2381G>C (p.Arg794Pro) c.140G>C (p.Arg47Pro) c.311G>C (p.Arg104Pro) c.2426G>C (p.Arg809Pro) | |
2 | g.26477441C>T | CA142799 | OTOF | c.2381G>A (p.Arg794His) c.140G>A (p.Arg47His) c.311G>A (p.Arg104His) c.2426G>A (p.Arg809His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477442G>A | CA1563938 | OTOF | c.2380C>T (p.Arg794Cys) c.139C>T (p.Arg47Cys) c.310C>T (p.Arg104Cys) c.2425C>T (p.Arg809Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477442G>C | CA346123143 | OTOF | c.2380C>G (p.Arg794Gly) c.139C>G (p.Arg47Gly) c.310C>G (p.Arg104Gly) c.2425C>G (p.Arg809Gly) | |
2 | g.26477442G= | CA1239830078 | OTOF | c.2380C= (p.Arg794=) c.139C= (p.Arg47=) c.310C= (p.Arg104=) c.2425C= (p.Arg809=) | |
2 | g.26477442G>T | CA346123145 | OTOF | c.2380C>A (p.Arg794Ser) c.139C>A (p.Arg47Ser) c.310C>A (p.Arg104Ser) c.2425C>A (p.Arg809Ser) | gnomAD v4 |
2 | g.26477443C>A | CA346123150 | OTOF | c.2379G>T (p.Glu793Asp) c.138G>T (p.Glu46Asp) c.309G>T (p.Glu103Asp) c.2424G>T (p.Glu808Asp) | |
2 | g.26477443C= | CA1239830080 | OTOF | c.2379G= (p.Glu793=) c.138G= (p.Glu46=) c.309G= (p.Glu103=) c.2424G= (p.Glu808=) | |
2 | g.26477443C>G | CA346123154 | OTOF | c.2379G>C (p.Glu793Asp) c.138G>C (p.Glu46Asp) c.309G>C (p.Glu103Asp) c.2424G>C (p.Glu808Asp) | |
2 | g.26477443C>T | CA425359969 | OTOF | c.2379G>A (p.Glu793=) c.138G>A (p.Glu46=) c.309G>A (p.Glu103=) c.2424G>A (p.Glu808=) | dbSNP gnomAD v2 |
2 | g.26477444T>A | CA346123159 | OTOF | c.2378A>T (p.Glu793Val) c.137A>T (p.Glu46Val) c.308A>T (p.Glu103Val) c.2423A>T (p.Glu808Val) | |
2 | g.26477444T>C | CA346123161 | OTOF | c.2378A>G (p.Glu793Gly) c.137A>G (p.Glu46Gly) c.308A>G (p.Glu103Gly) c.2423A>G (p.Glu808Gly) | gnomAD v4 |
2 | g.26477444T>G | CA346123163 | OTOF | c.2378A>C (p.Glu793Ala) c.137A>C (p.Glu46Ala) c.308A>C (p.Glu103Ala) c.2423A>C (p.Glu808Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477444T= | CA1239830082 | OTOF | c.2378A= (p.Glu793=) c.137A= (p.Glu46=) c.308A= (p.Glu103=) c.2423A= (p.Glu808=) | |
2 | g.26477445C>A | CA346123167 | OTOF | c.2377G>T (p.Glu793Ter) c.136G>T (p.Glu46Ter) c.307G>T (p.Glu103Ter) c.2422G>T (p.Glu808Ter) | ClinVar gnomAD v4 |
2 | g.26477445C= | CA1239830084 | OTOF | c.2377G= (p.Glu793=) c.136G= (p.Glu46=) c.307G= (p.Glu103=) c.2422G= (p.Glu808=) | |
2 | g.26477445C>G | CA346123169 | OTOF | c.2377G>C (p.Glu793Gln) c.136G>C (p.Glu46Gln) c.307G>C (p.Glu103Gln) c.2422G>C (p.Glu808Gln) | dbSNP |
2 | g.26477445C>T | CA346123171 | OTOF | c.2377G>A (p.Glu793Lys) c.136G>A (p.Glu46Lys) c.307G>A (p.Glu103Lys) c.2422G>A (p.Glu808Lys) | |
2 | g.26477447del | CA2658238000 | OTOF | c.2377del (p.Glu793SerfsTer7) c.136del (p.Glu46SerfsTer7) c.307del (p.Glu103SerfsTer7) c.2422del (p.Glu808SerfsTer7) | gnomAD v4 |
2 | g.26477446C>A | CA425359974 | OTOF | c.2376G>T (p.Arg792=) c.135G>T (p.Arg45=) c.306G>T (p.Arg102=) c.2421G>T (p.Arg807=) | gnomAD v4 |
2 | g.26477446C= | CA1239830088 | OTOF | c.2376G= (p.Arg792=) c.135G= (p.Arg45=) c.306G= (p.Arg102=) c.2421G= (p.Arg807=) | |
2 | g.26477446C>G | CA425359975 | OTOF | c.2376G>C (p.Arg792=) c.135G>C (p.Arg45=) c.306G>C (p.Arg102=) c.2421G>C (p.Arg807=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477446C>T | CA44398485 | OTOF | c.2376G>A (p.Arg792=) c.135G>A (p.Arg45=) c.306G>A (p.Arg102=) c.2421G>A (p.Arg807=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477447C>A | CA346123178 | OTOF | c.2375G>T (p.Arg792Leu) c.134G>T (p.Arg45Leu) c.305G>T (p.Arg102Leu) c.2420G>T (p.Arg807Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477447C= | CA1239830094 | OTOF | c.2375G= (p.Arg792=) c.134G= (p.Arg45=) c.305G= (p.Arg102=) c.2420G= (p.Arg807=) | |
2 | g.26477447C>G | CA1563939 | OTOF | c.2375G>C (p.Arg792Pro) c.134G>C (p.Arg45Pro) c.305G>C (p.Arg102Pro) c.2420G>C (p.Arg807Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477447C>T | CA142795 | OTOF | c.2375G>A (p.Arg792Gln) c.134G>A (p.Arg45Gln) c.305G>A (p.Arg102Gln) c.2420G>A (p.Arg807Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477448G>A | CA177552 | OTOF | c.2374C>T (p.Arg792Trp) c.133C>T (p.Arg45Trp) c.304C>T (p.Arg102Trp) c.2419C>T (p.Arg807Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477448G>C | CA346123196 | OTOF | c.2374C>G (p.Arg792Gly) c.133C>G (p.Arg45Gly) c.304C>G (p.Arg102Gly) c.2419C>G (p.Arg807Gly) | |
2 | g.26477448G= | CA1239830099 | OTOF | c.2374C= (p.Arg792=) c.133C= (p.Arg45=) c.304C= (p.Arg102=) c.2419C= (p.Arg807=) | |
2 | g.26477448G>T | CA425359976 | OTOF | c.2374C>A (p.Arg792=) c.133C>A (p.Arg45=) c.304C>A (p.Arg102=) c.2419C>A (p.Arg807=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477449G>A | CA425359977 | OTOF | c.2373C>T (p.Asp791=) c.132C>T (p.Asp44=) c.303C>T (p.Asp101=) c.2418C>T (p.Asp806=) | gnomAD v4 |
2 | g.26477449G>C | CA346123201 | OTOF | c.2373C>G (p.Asp791Glu) c.132C>G (p.Asp44Glu) c.303C>G (p.Asp101Glu) c.2418C>G (p.Asp806Glu) | |
2 | g.26477449G>T | CA346123203 | OTOF | c.2373C>A (p.Asp791Glu) c.132C>A (p.Asp44Glu) c.303C>A (p.Asp101Glu) c.2418C>A (p.Asp806Glu) | gnomAD v4 |
2 | g.26477450T>A | CA346123206 | OTOF | c.2372A>T (p.Asp791Val) c.131A>T (p.Asp44Val) c.302A>T (p.Asp101Val) c.2417A>T (p.Asp806Val) | |
2 | g.26477450T>C | CA346123207 | OTOF | c.2372A>G (p.Asp791Gly) c.131A>G (p.Asp44Gly) c.302A>G (p.Asp101Gly) c.2417A>G (p.Asp806Gly) | gnomAD v4 |
2 | g.26477450T>G | CA346123209 | OTOF | c.2372A>C (p.Asp791Ala) c.131A>C (p.Asp44Ala) c.302A>C (p.Asp101Ala) c.2417A>C (p.Asp806Ala) | |
2 | g.26477451C>A | CA346123212 | OTOF | c.2371G>T (p.Asp791Tyr) c.130G>T (p.Asp44Tyr) c.301G>T (p.Asp101Tyr) c.2416G>T (p.Asp806Tyr) | gnomAD v4 |
2 | g.26477451C= | CA1239830103 | OTOF | c.2371G= (p.Asp791=) c.130G= (p.Asp44=) c.301G= (p.Asp101=) c.2416G= (p.Asp806=) | |
2 | g.26477451C>G | CA346123214 | OTOF | c.2371G>C (p.Asp791His) c.130G>C (p.Asp44His) c.301G>C (p.Asp101His) c.2416G>C (p.Asp806His) | |
2 | g.26477451C>T | CA346123217 | OTOF | c.2371G>A (p.Asp791Asn) c.130G>A (p.Asp44Asn) c.301G>A (p.Asp101Asn) c.2416G>A (p.Asp806Asn) | gnomAD v4 |
2 | g.26477451_26477452insT | CA262044 | OTOF | c.2370_2371insA (p.Asp791ArgfsTer?) c.129_130insA (p.Asp44ArgfsTer?) c.300_301insA (p.Asp101ArgfsTer?) c.2415_2416insA (p.Asp806ArgfsTer?) | ClinVar dbSNP |
2 | g.26477452A>C | CA425359980 | OTOF | c.2370T>G (p.Leu790=) c.129T>G (p.Leu43=) c.300T>G (p.Leu100=) c.2415T>G (p.Leu805=) | |
2 | g.26477452A>G | CA425359981 | OTOF | c.2370T>C (p.Leu790=) c.129T>C (p.Leu43=) c.300T>C (p.Leu100=) c.2415T>C (p.Leu805=) | gnomAD v4 |
2 | g.26477452A>T | CA425359983 | OTOF | c.2370T>A (p.Leu790=) c.129T>A (p.Leu43=) c.300T>A (p.Leu100=) c.2415T>A (p.Leu805=) | ClinVar |
2 | g.26477453A>C | CA346123224 | OTOF | c.2369T>G (p.Leu790Arg) c.128T>G (p.Leu43Arg) c.299T>G (p.Leu100Arg) c.2414T>G (p.Leu805Arg) | gnomAD v4 |
2 | g.26477453A>G | CA346123226 | OTOF | c.2369T>C (p.Leu790Pro) c.128T>C (p.Leu43Pro) c.299T>C (p.Leu100Pro) c.2414T>C (p.Leu805Pro) | |
2 | g.26477453A>T | CA346123228 | OTOF | c.2369T>A (p.Leu790His) c.128T>A (p.Leu43His) c.299T>A (p.Leu100His) c.2414T>A (p.Leu805His) | |
2 | g.26477454G>A | CA346123232 | OTOF | c.2368C>T (p.Leu790Phe) c.127C>T (p.Leu43Phe) c.298C>T (p.Leu100Phe) c.2413C>T (p.Leu805Phe) | gnomAD v4 |
2 | g.26477454G>C | CA346123236 | OTOF | c.2368C>G (p.Leu790Val) c.127C>G (p.Leu43Val) c.298C>G (p.Leu100Val) c.2413C>G (p.Leu805Val) | |
2 | g.26477454G>T | CA346123238 | OTOF | c.2368C>A (p.Leu790Ile) c.127C>A (p.Leu43Ile) c.298C>A (p.Leu100Ile) c.2413C>A (p.Leu805Ile) | gnomAD v4 |
2 | g.26477455C>A | CA346123241 | OTOF | c.2367G>T (p.Arg789Ser) c.126G>T (p.Arg42Ser) c.297G>T (p.Arg99Ser) c.2412G>T (p.Arg804Ser) | gnomAD v4 |
2 | g.26477455C= | CA1239830110 | OTOF | c.2367G= (p.Arg789=) c.126G= (p.Arg42=) c.297G= (p.Arg99=) c.2412G= (p.Arg804=) | |
2 | g.26477455C>G | CA346123244 | OTOF | c.2367G>C (p.Arg789Ser) c.126G>C (p.Arg42Ser) c.297G>C (p.Arg99Ser) c.2412G>C (p.Arg804Ser) | |
2 | g.26477455C>T | CA44398499 | OTOF | c.2367G>A (p.Arg789=) c.126G>A (p.Arg42=) c.297G>A (p.Arg99=) c.2412G>A (p.Arg804=) | dbSNP gnomAD v4 |
2 | g.26477456C>A | CA346123247 | OTOF | c.2366G>T (p.Arg789Met) c.125G>T (p.Arg42Met) c.296G>T (p.Arg99Met) c.2411G>T (p.Arg804Met) | gnomAD v4 |
2 | g.26477456C>G | CA346123249 | OTOF | c.2366G>C (p.Arg789Thr) c.125G>C (p.Arg42Thr) c.296G>C (p.Arg99Thr) c.2411G>C (p.Arg804Thr) | |
2 | g.26477456C>T | CA346123251 | OTOF | c.2366G>A (p.Arg789Lys) c.125G>A (p.Arg42Lys) c.296G>A (p.Arg99Lys) c.2411G>A (p.Arg804Lys) | |
2 | g.26477457T>A | CA346123253 | OTOF | c.2365A>T (p.Arg789Trp) c.124A>T (p.Arg42Trp) c.295A>T (p.Arg99Trp) c.2410A>T (p.Arg804Trp) | gnomAD v4 |
2 | g.26477457T>C | CA346123256 | OTOF | c.2365A>G (p.Arg789Gly) c.124A>G (p.Arg42Gly) c.295A>G (p.Arg99Gly) c.2410A>G (p.Arg804Gly) | gnomAD v4 |
2 | g.26477457T>G | CA425359988 | OTOF | c.2365A>C (p.Arg789=) c.124A>C (p.Arg42=) c.295A>C (p.Arg99=) c.2410A>C (p.Arg804=) | |
2 | g.26477458G>A | CA1563940 | OTOF | c.2364C>T (p.Thr788=) c.123C>T (p.Thr41=) c.294C>T (p.Thr98=) c.2409C>T (p.Thr803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477458G>C | CA425359989 | OTOF | c.2364C>G (p.Thr788=) c.123C>G (p.Thr41=) c.294C>G (p.Thr98=) c.2409C>G (p.Thr803=) | |
2 | g.26477458G= | CA1239830113 | OTOF | c.2364C= (p.Thr788=) c.123C= (p.Thr41=) c.294C= (p.Thr98=) c.2409C= (p.Thr803=) | |
2 | g.26477458G>T | CA425359990 | OTOF | c.2364C>A (p.Thr788=) c.123C>A (p.Thr41=) c.294C>A (p.Thr98=) c.2409C>A (p.Thr803=) | gnomAD v4 |
2 | g.26477459G>A | CA346123259 | OTOF | c.2363C>T (p.Thr788Ile) c.122C>T (p.Thr41Ile) c.293C>T (p.Thr98Ile) c.2408C>T (p.Thr803Ile) | dbSNP |
2 | g.26477459G>C | CA346123260 | OTOF | c.2363C>G (p.Thr788Ser) c.122C>G (p.Thr41Ser) c.293C>G (p.Thr98Ser) c.2408C>G (p.Thr803Ser) | |
2 | g.26477459G= | CA1239830114 | OTOF | c.2363C= (p.Thr788=) c.122C= (p.Thr41=) c.293C= (p.Thr98=) c.2408C= (p.Thr803=) | |
2 | g.26477459G>T | CA346123261 | OTOF | c.2363C>A (p.Thr788Asn) c.122C>A (p.Thr41Asn) c.293C>A (p.Thr98Asn) c.2408C>A (p.Thr803Asn) | |
2 | g.26477460T>A | CA346123263 | OTOF | c.2362A>T (p.Thr788Ser) c.121A>T (p.Thr41Ser) c.292A>T (p.Thr98Ser) c.2407A>T (p.Thr803Ser) | |
2 | g.26477460T>C | CA346123267 | OTOF | c.2362A>G (p.Thr788Ala) c.121A>G (p.Thr41Ala) c.292A>G (p.Thr98Ala) c.2407A>G (p.Thr803Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477460T>G | CA346123269 | OTOF | c.2362A>C (p.Thr788Pro) c.121A>C (p.Thr41Pro) c.292A>C (p.Thr98Pro) c.2407A>C (p.Thr803Pro) | gnomAD v4 |
2 | g.26477460T= | CA1239830118 | OTOF | c.2362A= (p.Thr788=) c.121A= (p.Thr41=) c.292A= (p.Thr98=) c.2407A= (p.Thr803=) | |
2 | g.26477461G>A | CA1563941 | OTOF | c.2361C>T (p.Arg787=) c.120C>T (p.Arg40=) c.291C>T (p.Arg97=) c.2406C>T (p.Arg802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477461G>C | CA425359993 | OTOF | c.2361C>G (p.Arg787=) c.120C>G (p.Arg40=) c.291C>G (p.Arg97=) c.2406C>G (p.Arg802=) | |
2 | g.26477461G= | CA1239830120 | OTOF | c.2361C= (p.Arg787=) c.120C= (p.Arg40=) c.291C= (p.Arg97=) c.2406C= (p.Arg802=) | |
2 | g.26477461G>T | CA425359992 | OTOF | c.2361C>A (p.Arg787=) c.120C>A (p.Arg40=) c.291C>A (p.Arg97=) c.2406C>A (p.Arg802=) | gnomAD v4 |
2 | g.26477462C>A | CA346123274 | OTOF | c.2360G>T (p.Arg787Leu) c.119G>T (p.Arg40Leu) c.290G>T (p.Arg97Leu) c.2405G>T (p.Arg802Leu) | gnomAD v4 |
2 | g.26477462C= | CA1239830123 | OTOF | c.2360G= (p.Arg787=) c.119G= (p.Arg40=) c.290G= (p.Arg97=) c.2405G= (p.Arg802=) | |
2 | g.26477462C>G | CA346123279 | OTOF | c.2360G>C (p.Arg787Pro) c.119G>C (p.Arg40Pro) c.290G>C (p.Arg97Pro) c.2405G>C (p.Arg802Pro) | |
2 | g.26477462C>T | CA44398509 | OTOF | c.2360G>A (p.Arg787His) c.119G>A (p.Arg40His) c.290G>A (p.Arg97His) c.2405G>A (p.Arg802His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477463G>A | CA1563942 | OTOF | c.2359C>T (p.Arg787Cys) c.118C>T (p.Arg40Cys) c.289C>T (p.Arg97Cys) c.2404C>T (p.Arg802Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26477463G>C | CA346123289 | OTOF | c.2359C>G (p.Arg787Gly) c.118C>G (p.Arg40Gly) c.289C>G (p.Arg97Gly) c.2404C>G (p.Arg802Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477463G= | CA1239830132 | OTOF | c.2359C= (p.Arg787=) c.118C= (p.Arg40=) c.289C= (p.Arg97=) c.2404C= (p.Arg802=) | |
2 | g.26477463G>T | CA346123287 | OTOF | c.2359C>A (p.Arg787Ser) c.118C>A (p.Arg40Ser) c.289C>A (p.Arg97Ser) c.2404C>A (p.Arg802Ser) | gnomAD v4 |
2 | g.26477464G>A | CA425359994 | OTOF | c.2358C>T (p.Ser786=) c.117C>T (p.Ser39=) c.288C>T (p.Ser96=) c.2403C>T (p.Ser801=) | gnomAD v4 |
2 | g.26477464G>C | CA425359996 | OTOF | c.2358C>G (p.Ser786=) c.117C>G (p.Ser39=) c.288C>G (p.Ser96=) c.2403C>G (p.Ser801=) | |
2 | g.26477464G>T | CA425359997 | OTOF | c.2358C>A (p.Ser786=) c.117C>A (p.Ser39=) c.288C>A (p.Ser96=) c.2403C>A (p.Ser801=) | |
2 | g.26477464_26477483dup | CA2740257657 | OTOF | c.2339_2358dup (p.Leu790AlafsTer17) c.98_117dup (p.Leu43AlafsTer17) c.269_288dup (p.Leu100AlafsTer17) c.2384_2403dup (p.Leu805AlafsTer17) | |
2 | g.26477465G>A | CA346123292 | OTOF | c.2357C>T (p.Ser786Phe) c.116C>T (p.Ser39Phe) c.287C>T (p.Ser96Phe) c.2402C>T (p.Ser801Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477465G>C | CA346123297 | OTOF | c.2357C>G (p.Ser786Cys) c.116C>G (p.Ser39Cys) c.287C>G (p.Ser96Cys) c.2402C>G (p.Ser801Cys) | gnomAD v4 |
2 | g.26477465G= | CA1239830138 | OTOF | c.2357C= (p.Ser786=) c.116C= (p.Ser39=) c.287C= (p.Ser96=) c.2402C= (p.Ser801=) | |
2 | g.26477465G>T | CA346123295 | OTOF | c.2357C>A (p.Ser786Tyr) c.116C>A (p.Ser39Tyr) c.287C>A (p.Ser96Tyr) c.2402C>A (p.Ser801Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477466A= | CA1239830140 | OTOF | c.2356T= (p.Ser786=) c.115T= (p.Ser39=) c.286T= (p.Ser96=) c.2401T= (p.Ser801=) | |
2 | g.26477466A>C | CA346123301 | OTOF | c.2356T>G (p.Ser786Ala) c.115T>G (p.Ser39Ala) c.286T>G (p.Ser96Ala) c.2401T>G (p.Ser801Ala) | gnomAD v4 |
2 | g.26477466A>G | CA346123302 | OTOF | c.2356T>C (p.Ser786Pro) c.115T>C (p.Ser39Pro) c.286T>C (p.Ser96Pro) c.2401T>C (p.Ser801Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477466A>T | CA346123304 | OTOF | c.2356T>A (p.Ser786Thr) c.115T>A (p.Ser39Thr) c.286T>A (p.Ser96Thr) c.2401T>A (p.Ser801Thr) | |
2 | g.26477467T>A | CA425360003 | OTOF | c.2355A>T (p.Ser785=) c.114A>T (p.Ser38=) c.285A>T (p.Ser95=) c.2400A>T (p.Ser800=) | |
2 | g.26477467T>C | CA425360004 | OTOF | c.2355A>G (p.Ser785=) c.114A>G (p.Ser38=) c.285A>G (p.Ser95=) c.2400A>G (p.Ser800=) | |
2 | g.26477467T>G | CA425360005 | OTOF | c.2355A>C (p.Ser785=) c.114A>C (p.Ser38=) c.285A>C (p.Ser95=) c.2400A>C (p.Ser800=) | |
2 | g.26477468G>A | CA1563943 | OTOF | c.2354C>T (p.Ser785Leu) c.113C>T (p.Ser38Leu) c.284C>T (p.Ser95Leu) c.2399C>T (p.Ser800Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477468G>C | CA346123310 | OTOF | c.2354C>G (p.Ser785Ter) c.113C>G (p.Ser38Ter) c.284C>G (p.Ser95Ter) c.2399C>G (p.Ser800Ter) | |
2 | g.26477468G= | CA1239830143 | OTOF | c.2354C= (p.Ser785=) c.113C= (p.Ser38=) c.284C= (p.Ser95=) c.2399C= (p.Ser800=) | |
2 | g.26477468G>T | CA346123313 | OTOF | c.2354C>A (p.Ser785Ter) c.113C>A (p.Ser38Ter) c.284C>A (p.Ser95Ter) c.2399C>A (p.Ser800Ter) | gnomAD v4 |
2 | g.26477469A>C | CA346123315 | OTOF | c.2353T>G (p.Ser785Ala) c.112T>G (p.Ser38Ala) c.283T>G (p.Ser95Ala) c.2398T>G (p.Ser800Ala) | |
2 | g.26477469A>G | CA346123318 | OTOF | c.2353T>C (p.Ser785Pro) c.112T>C (p.Ser38Pro) c.283T>C (p.Ser95Pro) c.2398T>C (p.Ser800Pro) | gnomAD v4 |
2 | g.26477469A>T | CA346123321 | OTOF | c.2353T>A (p.Ser785Thr) c.112T>A (p.Ser38Thr) c.283T>A (p.Ser95Thr) c.2398T>A (p.Ser800Thr) | gnomAD v4 |
2 | g.26477470G>A | CA425360007 | OTOF | c.2352C>T (p.His784=) c.111C>T (p.His37=) c.282C>T (p.His94=) c.2397C>T (p.His799=) | gnomAD v4 |
2 | g.26477470G>C | CA346123324 | OTOF | c.2352C>G (p.His784Gln) c.111C>G (p.His37Gln) c.282C>G (p.His94Gln) c.2397C>G (p.His799Gln) | |
2 | g.26477470G>T | CA346123327 | OTOF | c.2352C>A (p.His784Gln) c.111C>A (p.His37Gln) c.282C>A (p.His94Gln) c.2397C>A (p.His799Gln) | |
2 | g.26477471T>A | CA1563944 | OTOF | c.2351A>T (p.His784Leu) c.110A>T (p.His37Leu) c.281A>T (p.His94Leu) c.2396A>T (p.His799Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477471T>C | CA346123330 | OTOF | c.2351A>G (p.His784Arg) c.110A>G (p.His37Arg) c.281A>G (p.His94Arg) c.2396A>G (p.His799Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477471T>G | CA346123333 | OTOF | c.2351A>C (p.His784Pro) c.110A>C (p.His37Pro) c.281A>C (p.His94Pro) c.2396A>C (p.His799Pro) | |
2 | g.26477471T= | CA1239830148 | OTOF | c.2351A= (p.His784=) c.110A= (p.His37=) c.281A= (p.His94=) c.2396A= (p.His799=) | |
2 | g.26477472G>A | CA346123338 | OTOF | c.2350C>T (p.His784Tyr) c.109C>T (p.His37Tyr) c.280C>T (p.His94Tyr) c.2395C>T (p.His799Tyr) | gnomAD v4 |
2 | g.26477472G>C | CA346123340 | OTOF | c.2350C>G (p.His784Asp) c.109C>G (p.His37Asp) c.280C>G (p.His94Asp) c.2395C>G (p.His799Asp) | |
2 | g.26477472G= | CA1239830152 | OTOF | c.2350C= (p.His784=) c.109C= (p.His37=) c.280C= (p.His94=) c.2395C= (p.His799=) | |
2 | g.26477472G>T | CA346123341 | OTOF | c.2350C>A (p.His784Asn) c.109C>A (p.His37Asn) c.280C>A (p.His94Asn) c.2395C>A (p.His799Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477473G>A | CA425360013 | OTOF | c.2349C>T (p.Gly783=) c.108C>T (p.Gly36=) c.279C>T (p.Gly93=) c.2394C>T (p.Gly798=) | |
2 | g.26477473G>C | CA425360015 | OTOF | c.2349C>G (p.Gly783=) c.108C>G (p.Gly36=) c.279C>G (p.Gly93=) c.2394C>G (p.Gly798=) | dbSNP |
2 | g.26477473G= | CA1239830157 | OTOF | c.2349C= (p.Gly783=) c.108C= (p.Gly36=) c.279C= (p.Gly93=) c.2394C= (p.Gly798=) | |
2 | g.26477473G>T | CA425360016 | OTOF | c.2349C>A (p.Gly783=) c.108C>A (p.Gly36=) c.279C>A (p.Gly93=) c.2394C>A (p.Gly798=) | gnomAD v2 |
2 | g.26477473_26477474delinsGC | CA1239830155 | OTOF | c.2348_2349delinsGC (p.Gly783=) c.107_108delinsGC (p.Gly36=) c.278_279delinsGC (p.Gly93=) c.2393_2394delinsGC (p.Gly798=) | |
2 | g.26477474C>A | CA346123347 | OTOF | c.2348G>T (p.Gly783Val) c.107G>T (p.Gly36Val) c.278G>T (p.Gly93Val) c.2393G>T (p.Gly798Val) | |
2 | g.26477474C>G | CA346123349 | OTOF | c.2348G>C (p.Gly783Ala) c.107G>C (p.Gly36Ala) c.278G>C (p.Gly93Ala) c.2393G>C (p.Gly798Ala) | |
2 | g.26477474C>T | CA346123351 | OTOF | c.2348G>A (p.Gly783Asp) c.107G>A (p.Gly36Asp) c.278G>A (p.Gly93Asp) c.2393G>A (p.Gly798Asp) | gnomAD v4 |
2 | g.26477476del | CA342565 | OTOF | c.2348del (p.Gly783AlafsTer17) c.107del (p.Gly36AlafsTer17) c.278del (p.Gly93AlafsTer17) c.2393del (p.Gly798AlafsTer17) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477475C>A | CA346123352 | OTOF | c.2347G>T (p.Gly783Cys) c.106G>T (p.Gly36Cys) c.277G>T (p.Gly93Cys) c.2392G>T (p.Gly798Cys) | |
2 | g.26477475C>G | CA346123353 | OTOF | c.2347G>C (p.Gly783Arg) c.106G>C (p.Gly36Arg) c.277G>C (p.Gly93Arg) c.2392G>C (p.Gly798Arg) | gnomAD v4 |
2 | g.26477475C>T | CA346123354 | OTOF | c.2347G>A (p.Gly783Ser) c.106G>A (p.Gly36Ser) c.277G>A (p.Gly93Ser) c.2392G>A (p.Gly798Ser) | |
2 | g.26477476C>A | CA346123355 | OTOF | c.2346G>T (p.Gln782His) c.105G>T (p.Gln35His) c.276G>T (p.Gln92His) c.2391G>T (p.Gln797His) | |
2 | g.26477476C= | CA1239830164 | OTOF | c.2346G= (p.Gln782=) c.105G= (p.Gln35=) c.276G= (p.Gln92=) c.2391G= (p.Gln797=) | |
2 | g.26477476C>G | CA346123357 | OTOF | c.2346G>C (p.Gln782His) c.105G>C (p.Gln35His) c.276G>C (p.Gln92His) c.2391G>C (p.Gln797His) | |
2 | g.26477476C>T | CA425360019 | OTOF | c.2346G>A (p.Gln782=) c.105G>A (p.Gln35=) c.276G>A (p.Gln92=) c.2391G>A (p.Gln797=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477477T>A | CA346123358 | OTOF | c.2345A>T (p.Gln782Leu) c.104A>T (p.Gln35Leu) c.275A>T (p.Gln92Leu) c.2390A>T (p.Gln797Leu) | |
2 | g.26477477T>C | CA346123359 | OTOF | c.2345A>G (p.Gln782Arg) c.104A>G (p.Gln35Arg) c.275A>G (p.Gln92Arg) c.2390A>G (p.Gln797Arg) | dbSNP gnomAD v4 |
2 | g.26477477T>G | CA346123360 | OTOF | c.2345A>C (p.Gln782Pro) c.104A>C (p.Gln35Pro) c.275A>C (p.Gln92Pro) c.2390A>C (p.Gln797Pro) | |
2 | g.26477477T= | CA1239830166 | OTOF | c.2345A= (p.Gln782=) c.104A= (p.Gln35=) c.275A= (p.Gln92=) c.2390A= (p.Gln797=) | |
2 | g.26477478G>A | CA346123361 | OTOF | c.2344C>T (p.Gln782Ter) c.103C>T (p.Gln35Ter) c.274C>T (p.Gln92Ter) c.2389C>T (p.Gln797Ter) | |
2 | g.26477478G>C | CA346123362 | OTOF | c.2344C>G (p.Gln782Glu) c.103C>G (p.Gln35Glu) c.274C>G (p.Gln92Glu) c.2389C>G (p.Gln797Glu) | |
2 | g.26477478G>T | CA346123363 | OTOF | c.2344C>A (p.Gln782Lys) c.103C>A (p.Gln35Lys) c.274C>A (p.Gln92Lys) c.2389C>A (p.Gln797Lys) | gnomAD v4 |
2 | g.26477479G>A | CA425360028 | OTOF | c.2343C>T (p.Asp781=) c.102C>T (p.Asp34=) c.273C>T (p.Asp91=) c.2388C>T (p.Asp796=) | gnomAD v4 |
2 | g.26477479G>C | CA346123364 | OTOF | c.2343C>G (p.Asp781Glu) c.102C>G (p.Asp34Glu) c.273C>G (p.Asp91Glu) c.2388C>G (p.Asp796Glu) | |
2 | g.26477479G>T | CA346123365 | OTOF | c.2343C>A (p.Asp781Glu) c.102C>A (p.Asp34Glu) c.273C>A (p.Asp91Glu) c.2388C>A (p.Asp796Glu) | |
2 | g.26477480T>A | CA346123366 | OTOF | c.2342A>T (p.Asp781Val) c.101A>T (p.Asp34Val) c.272A>T (p.Asp91Val) c.2387A>T (p.Asp796Val) | |
2 | g.26477480T>C | CA346123367 | OTOF | c.2342A>G (p.Asp781Gly) c.101A>G (p.Asp34Gly) c.272A>G (p.Asp91Gly) c.2387A>G (p.Asp796Gly) | |
2 | g.26477480T>G | CA346123368 | OTOF | c.2342A>C (p.Asp781Ala) c.101A>C (p.Asp34Ala) c.272A>C (p.Asp91Ala) c.2387A>C (p.Asp796Ala) | |
2 | g.26477481C>A | CA346123370 | OTOF | c.2341G>T (p.Asp781Tyr) c.100G>T (p.Asp34Tyr) c.271G>T (p.Asp91Tyr) c.2386G>T (p.Asp796Tyr) | gnomAD v4 |
2 | g.26477481C= | CA1239830169 | OTOF | c.2341G= (p.Asp781=) c.100G= (p.Asp34=) c.271G= (p.Asp91=) c.2386G= (p.Asp796=) | |
2 | g.26477481C>G | CA346123369 | OTOF | c.2341G>C (p.Asp781His) c.100G>C (p.Asp34His) c.271G>C (p.Asp91His) c.2386G>C (p.Asp796His) | |
2 | g.26477481C>T | CA44398525 | OTOF | c.2341G>A (p.Asp781Asn) c.100G>A (p.Asp34Asn) c.271G>A (p.Asp91Asn) c.2386G>A (p.Asp796Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477482dup | CA2838617201 | OTOF | c.2341dup (p.Asp781GlyfsTer11) c.100dup (p.Asp34GlyfsTer11) c.271dup (p.Asp91GlyfsTer11) c.2386dup (p.Asp796GlyfsTer11) | |
2 | g.26477481_26477482insA | CA2564494559 | OTOF | c.2340_2341insT (p.Asp781Ter) c.99_100insT (p.Asp34Ter) c.270_271insT (p.Asp91Ter) c.2385_2386insT (p.Asp796Ter) | |
2 | g.26477482C>A | CA346123371 | OTOF | c.2340G>T (p.Lys780Asn) c.99G>T (p.Lys33Asn) c.270G>T (p.Lys90Asn) c.2385G>T (p.Lys795Asn) | gnomAD v4 |
2 | g.26477482C= | CA1239830171 | OTOF | c.2340G= (p.Lys780=) c.99G= (p.Lys33=) c.270G= (p.Lys90=) c.2385G= (p.Lys795=) | |
2 | g.26477482C>G | CA346123372 | OTOF | c.2340G>C (p.Lys780Asn) c.99G>C (p.Lys33Asn) c.270G>C (p.Lys90Asn) c.2385G>C (p.Lys795Asn) | |
2 | g.26477482C>T | CA425360030 | OTOF | c.2340G>A (p.Lys780=) c.99G>A (p.Lys33=) c.270G>A (p.Lys90=) c.2385G>A (p.Lys795=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477483T>A | CA346123373 | OTOF | c.2339A>T (p.Lys780Met) c.98A>T (p.Lys33Met) c.269A>T (p.Lys90Met) c.2384A>T (p.Lys795Met) | gnomAD v4 |
2 | g.26477483T>C | CA346123374 | OTOF | c.2339A>G (p.Lys780Arg) c.98A>G (p.Lys33Arg) c.269A>G (p.Lys90Arg) c.2384A>G (p.Lys795Arg) | |
2 | g.26477483T>G | CA346123375 | OTOF | c.2339A>C (p.Lys780Thr) c.98A>C (p.Lys33Thr) c.269A>C (p.Lys90Thr) c.2384A>C (p.Lys795Thr) | |
2 | g.26477484_26477486del | CA2531158118 | OTOF | c.2337_2339del (p.Asp779_Lys780delinsGlu) c.96_98del (p.Asp32_Lys33delinsGlu) c.267_269del (p.Asp89_Lys90delinsGlu) c.2382_2384del (p.Asp794_Lys795delinsGlu) | |
2 | g.26477484T>A | CA346123376 | OTOF | c.2338A>T (p.Lys780Ter) c.97A>T (p.Lys33Ter) c.268A>T (p.Lys90Ter) c.2383A>T (p.Lys795Ter) | |
2 | g.26477484T>C | CA346123377 | OTOF | c.2338A>G (p.Lys780Glu) c.97A>G (p.Lys33Glu) c.268A>G (p.Lys90Glu) c.2383A>G (p.Lys795Glu) | gnomAD v4 |
2 | g.26477484T>G | CA346123378 | OTOF | c.2338A>C (p.Lys780Gln) c.97A>C (p.Lys33Gln) c.268A>C (p.Lys90Gln) c.2383A>C (p.Lys795Gln) | |
2 | g.26477485_26477486del | CA2576699508 | OTOF | c.2337_2338del (p.Asp779GlufsTer12) c.96_97del (p.Asp32GlufsTer12) c.267_268del (p.Asp89GlufsTer12) c.2382_2383del (p.Asp794GlufsTer12) | |
2 | g.26477485G>A | CA425360035 | OTOF | c.2337C>T (p.Asp779=) c.96C>T (p.Asp32=) c.267C>T (p.Asp89=) c.2382C>T (p.Asp794=) | |
2 | g.26477485G>C | CA346123379 | OTOF | c.2337C>G (p.Asp779Glu) c.96C>G (p.Asp32Glu) c.267C>G (p.Asp89Glu) c.2382C>G (p.Asp794Glu) | |
2 | g.26477485G>T | CA346123380 | OTOF | c.2337C>A (p.Asp779Glu) c.96C>A (p.Asp32Glu) c.267C>A (p.Asp89Glu) c.2382C>A (p.Asp794Glu) | gnomAD v4 |
2 | g.26477486T>A | CA346123381 | OTOF | c.2336A>T (p.Asp779Val) c.95A>T (p.Asp32Val) c.266A>T (p.Asp89Val) c.2381A>T (p.Asp794Val) | dbSNP gnomAD v4 |
2 | g.26477486T>C | CA346123382 | OTOF | c.2336A>G (p.Asp779Gly) c.95A>G (p.Asp32Gly) c.266A>G (p.Asp89Gly) c.2381A>G (p.Asp794Gly) | gnomAD v4 |
2 | g.26477486T>G | CA346123383 | OTOF | c.2336A>C (p.Asp779Ala) c.95A>C (p.Asp32Ala) c.266A>C (p.Asp89Ala) c.2381A>C (p.Asp794Ala) | |
2 | g.26477486T= | CA1239830174 | OTOF | c.2336A= (p.Asp779=) c.95A= (p.Asp32=) c.266A= (p.Asp89=) c.2381A= (p.Asp794=) | |
2 | g.26477487C>A | CA346123385 | OTOF | c.2335G>T (p.Asp779Tyr) c.94G>T (p.Asp32Tyr) c.265G>T (p.Asp89Tyr) c.2380G>T (p.Asp794Tyr) | gnomAD v4 |
2 | g.26477487C>G | CA346123386 | OTOF | c.2335G>C (p.Asp779His) c.94G>C (p.Asp32His) c.265G>C (p.Asp89His) c.2380G>C (p.Asp794His) | |
2 | g.26477487C>T | CA346123384 | OTOF | c.2335G>A (p.Asp779Asn) c.94G>A (p.Asp32Asn) c.265G>A (p.Asp89Asn) c.2380G>A (p.Asp794Asn) | gnomAD v4 |
2 | g.26477488A>C | CA425360038 | OTOF | c.2334T>G (p.Ala778=) c.93T>G (p.Ala31=) c.264T>G (p.Ala88=) c.2379T>G (p.Ala793=) | |
2 | g.26477488A>G | CA425360040 | OTOF | c.2334T>C (p.Ala778=) c.93T>C (p.Ala31=) c.264T>C (p.Ala88=) c.2379T>C (p.Ala793=) | gnomAD v4 |
2 | g.26477488A>T | CA425360039 | OTOF | c.2334T>A (p.Ala778=) c.93T>A (p.Ala31=) c.264T>A (p.Ala88=) c.2379T>A (p.Ala793=) | gnomAD v4 |
2 | g.26477489_26477501del | CA2576699509 | OTOF | c.2322_2334del (p.Phe774LeufsTer22) c.81_93del (p.Phe27LeufsTer22) c.252_264del (p.Phe84LeufsTer22) c.2367_2379del (p.Phe789LeufsTer22) | |
2 | g.26477489G>A | CA346123387 | OTOF | c.2333C>T (p.Ala778Val) c.92C>T (p.Ala31Val) c.263C>T (p.Ala88Val) c.2378C>T (p.Ala793Val) | |
2 | g.26477489G>C | CA346123388 | OTOF | c.2333C>G (p.Ala778Gly) c.92C>G (p.Ala31Gly) c.263C>G (p.Ala88Gly) c.2378C>G (p.Ala793Gly) | |
2 | g.26477489G= | CA1239830177 | OTOF | c.2333C= (p.Ala778=) c.92C= (p.Ala31=) c.263C= (p.Ala88=) c.2378C= (p.Ala793=) | |
2 | g.26477489G>T | CA346123389 | OTOF | c.2333C>A (p.Ala778Asp) c.92C>A (p.Ala31Asp) c.263C>A (p.Ala88Asp) c.2378C>A (p.Ala793Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477490C>A | CA1563945 | OTOF | c.2332G>T (p.Ala778Ser) c.91G>T (p.Ala31Ser) c.262G>T (p.Ala88Ser) c.2377G>T (p.Ala793Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477490C= | CA1239830186 | OTOF | c.2332G= (p.Ala778=) c.91G= (p.Ala31=) c.262G= (p.Ala88=) c.2377G= (p.Ala793=) | |
2 | g.26477490C>G | CA346123390 | OTOF | c.2332G>C (p.Ala778Pro) c.91G>C (p.Ala31Pro) c.262G>C (p.Ala88Pro) c.2377G>C (p.Ala793Pro) | gnomAD v4 |
2 | g.26477490C>T | CA1563946 | OTOF | c.2332G>A (p.Ala778Thr) c.91G>A (p.Ala31Thr) c.262G>A (p.Ala88Thr) c.2377G>A (p.Ala793Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477491G>A | CA1563947 | OTOF | c.2331C>T (p.Leu777=) c.90C>T (p.Leu30=) c.261C>T (p.Leu87=) c.2376C>T (p.Leu792=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477491G>C | CA425360045 | OTOF | c.2331C>G (p.Leu777=) c.90C>G (p.Leu30=) c.261C>G (p.Leu87=) c.2376C>G (p.Leu792=) | dbSNP |
2 | g.26477491G= | CA1239830188 | OTOF | c.2331C= (p.Leu777=) c.90C= (p.Leu30=) c.261C= (p.Leu87=) c.2376C= (p.Leu792=) | |
2 | g.26477491G>T | CA425360046 | OTOF | c.2331C>A (p.Leu777=) c.90C>A (p.Leu30=) c.261C>A (p.Leu87=) c.2376C>A (p.Leu792=) | gnomAD v4 |
2 | g.26477491_26477500del | CA2540778575 | OTOF | c.2322_2331del (p.Phe774LeufsTer23) c.81_90del (p.Phe27LeufsTer23) c.252_261del (p.Phe84LeufsTer23) c.2367_2376del (p.Phe789LeufsTer23) | |
2 | g.26477492A>C | CA346123391 | OTOF | c.2330T>G (p.Leu777Arg) c.89T>G (p.Leu30Arg) c.260T>G (p.Leu87Arg) c.2375T>G (p.Leu792Arg) | |
2 | g.26477492A>G | CA346123392 | OTOF | c.2330T>C (p.Leu777Pro) c.89T>C (p.Leu30Pro) c.260T>C (p.Leu87Pro) c.2375T>C (p.Leu792Pro) | gnomAD v4 |
2 | g.26477492A>T | CA346123393 | OTOF | c.2330T>A (p.Leu777His) c.89T>A (p.Leu30His) c.260T>A (p.Leu87His) c.2375T>A (p.Leu792His) | |
2 | g.26477493G>A | CA346123394 | OTOF | c.2329C>T (p.Leu777Phe) c.88C>T (p.Leu30Phe) c.259C>T (p.Leu87Phe) c.2374C>T (p.Leu792Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477493G>C | CA346123395 | OTOF | c.2329C>G (p.Leu777Val) c.88C>G (p.Leu30Val) c.259C>G (p.Leu87Val) c.2374C>G (p.Leu792Val) | COSMIC COSMIC COSMIC |
2 | g.26477493G= | CA1239830191 | OTOF | c.2329C= (p.Leu777=) c.88C= (p.Leu30=) c.259C= (p.Leu87=) c.2374C= (p.Leu792=) | |
2 | g.26477493G>T | CA346123396 | OTOF | c.2329C>A (p.Leu777Ile) c.88C>A (p.Leu30Ile) c.259C>A (p.Leu87Ile) c.2374C>A (p.Leu792Ile) | gnomAD v4 |
2 | g.26477494G>A | CA425360049 | OTOF | c.2328C>T (p.Ser776=) c.87C>T (p.Ser29=) c.258C>T (p.Ser86=) c.2373C>T (p.Ser791=) | |
2 | g.26477494G>C | CA425360051 | OTOF | c.2328C>G (p.Ser776=) c.87C>G (p.Ser29=) c.258C>G (p.Ser86=) c.2373C>G (p.Ser791=) | |
2 | g.26477494G>T | CA425360053 | OTOF | c.2328C>A (p.Ser776=) c.87C>A (p.Ser29=) c.258C>A (p.Ser86=) c.2373C>A (p.Ser791=) | |
2 | g.26477495G>A | CA346123399 | OTOF | c.2327C>T (p.Ser776Phe) c.86C>T (p.Ser29Phe) c.257C>T (p.Ser86Phe) c.2372C>T (p.Ser791Phe) | gnomAD v4 |
2 | g.26477495G>C | CA346123398 | OTOF | c.2327C>G (p.Ser776Cys) c.86C>G (p.Ser29Cys) c.257C>G (p.Ser86Cys) c.2372C>G (p.Ser791Cys) | |
2 | g.26477495G>T | CA346123397 | OTOF | c.2327C>A (p.Ser776Tyr) c.86C>A (p.Ser29Tyr) c.257C>A (p.Ser86Tyr) c.2372C>A (p.Ser791Tyr) | gnomAD v4 |
2 | g.26477496A= | CA1239830193 | OTOF | c.2326T= (p.Ser776=) c.85T= (p.Ser29=) c.256T= (p.Ser86=) c.2371T= (p.Ser791=) | |
2 | g.26477496A>C | CA1563948 | OTOF | c.2326T>G (p.Ser776Ala) c.85T>G (p.Ser29Ala) c.256T>G (p.Ser86Ala) c.2371T>G (p.Ser791Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.26477496A>G | CA346123400 | OTOF | c.2326T>C (p.Ser776Pro) c.85T>C (p.Ser29Pro) c.256T>C (p.Ser86Pro) c.2371T>C (p.Ser791Pro) | dbSNP gnomAD v2 |
2 | g.26477496A>T | CA346123401 | OTOF | c.2326T>A (p.Ser776Thr) c.85T>A (p.Ser29Thr) c.256T>A (p.Ser86Thr) c.2371T>A (p.Ser791Thr) | |
2 | g.26477497G>A | CA425360056 | OTOF | c.2325C>T (p.Leu775=) c.84C>T (p.Leu28=) c.255C>T (p.Leu85=) c.2370C>T (p.Leu790=) | |
2 | g.26477497G>C | CA425360058 | OTOF | c.2325C>G (p.Leu775=) c.84C>G (p.Leu28=) c.255C>G (p.Leu85=) c.2370C>G (p.Leu790=) | |
2 | g.26477497G>T | CA425360059 | OTOF | c.2325C>A (p.Leu775=) c.84C>A (p.Leu28=) c.255C>A (p.Leu85=) c.2370C>A (p.Leu790=) | |
2 | g.26477498A>C | CA346123402 | OTOF | c.2324T>G (p.Leu775Arg) c.83T>G (p.Leu28Arg) c.254T>G (p.Leu85Arg) c.2369T>G (p.Leu790Arg) | |
2 | g.26477498A>G | CA346123403 | OTOF | c.2324T>C (p.Leu775Pro) c.83T>C (p.Leu28Pro) c.254T>C (p.Leu85Pro) c.2369T>C (p.Leu790Pro) | gnomAD v4 |
2 | g.26477498A>T | CA346123404 | OTOF | c.2324T>A (p.Leu775His) c.83T>A (p.Leu28His) c.254T>A (p.Leu85His) c.2369T>A (p.Leu790His) | |
2 | g.26477499G>A | CA346123405 | OTOF | c.2323C>T (p.Leu775Phe) c.82C>T (p.Leu28Phe) c.253C>T (p.Leu85Phe) c.2368C>T (p.Leu790Phe) | dbSNP gnomAD v4 |
2 | g.26477499G>C | CA346123406 | OTOF | c.2323C>G (p.Leu775Val) c.82C>G (p.Leu28Val) c.253C>G (p.Leu85Val) c.2368C>G (p.Leu790Val) | |
2 | g.26477499G= | CA1239830196 | OTOF | c.2323C= (p.Leu775=) c.82C= (p.Leu28=) c.253C= (p.Leu85=) c.2368C= (p.Leu790=) | |
2 | g.26477499G>T | CA346123407 | OTOF | c.2323C>A (p.Leu775Ile) c.82C>A (p.Leu28Ile) c.253C>A (p.Leu85Ile) c.2368C>A (p.Leu790Ile) | |
2 | g.26477500G>A | CA425360064 | OTOF | c.2322C>T (p.Phe774=) c.81C>T (p.Phe27=) c.252C>T (p.Phe84=) c.2367C>T (p.Phe789=) | |
2 | g.26477500G>C | CA346123408 | OTOF | c.2322C>G (p.Phe774Leu) c.81C>G (p.Phe27Leu) c.252C>G (p.Phe84Leu) c.2367C>G (p.Phe789Leu) | |
2 | g.26477500G>T | CA346123409 | OTOF | c.2322C>A (p.Phe774Leu) c.81C>A (p.Phe27Leu) c.252C>A (p.Phe84Leu) c.2367C>A (p.Phe789Leu) | gnomAD v4 |
2 | g.26477501A>C | CA346123410 | OTOF | c.2321T>G (p.Phe774Cys) c.80T>G (p.Phe27Cys) c.251T>G (p.Phe84Cys) c.2366T>G (p.Phe789Cys) | |
2 | g.26477501A>G | CA346123411 | OTOF | c.2321T>C (p.Phe774Ser) c.80T>C (p.Phe27Ser) c.251T>C (p.Phe84Ser) c.2366T>C (p.Phe789Ser) | |
2 | g.26477501A>T | CA346123412 | OTOF | c.2321T>A (p.Phe774Tyr) c.80T>A (p.Phe27Tyr) c.251T>A (p.Phe84Tyr) c.2366T>A (p.Phe789Tyr) | |
2 | g.26477502A= | CA1239830198 | OTOF | c.2320T= (p.Phe774=) c.79T= (p.Phe27=) c.250T= (p.Phe84=) c.2365T= (p.Phe789=) | |
2 | g.26477502A>C | CA346123414 | OTOF | c.2320T>G (p.Phe774Val) c.79T>G (p.Phe27Val) c.250T>G (p.Phe84Val) c.2365T>G (p.Phe789Val) | |
2 | g.26477502A>G | CA346123415 | OTOF | c.2320T>C (p.Phe774Leu) c.79T>C (p.Phe27Leu) c.250T>C (p.Phe84Leu) c.2365T>C (p.Phe789Leu) | |
2 | g.26477502A>T | CA346123413 | OTOF | c.2320T>A (p.Phe774Ile) c.79T>A (p.Phe27Ile) c.250T>A (p.Phe84Ile) c.2365T>A (p.Phe789Ile) | dbSNP gnomAD v4 |
2 | g.26477503G>A | CA425360070 | OTOF | c.2319C>T (p.Arg773=) c.78C>T (p.Arg26=) c.249C>T (p.Arg83=) c.2364C>T (p.Arg788=) | |
2 | g.26477503G>C | CA425360073 | OTOF | c.2319C>G (p.Arg773=) c.78C>G (p.Arg26=) c.249C>G (p.Arg83=) c.2364C>G (p.Arg788=) | |
2 | g.26477503G>T | CA425360071 | OTOF | c.2319C>A (p.Arg773=) c.78C>A (p.Arg26=) c.249C>A (p.Arg83=) c.2364C>A (p.Arg788=) | |
2 | g.26477504C>A | CA346123416 | OTOF | c.2318G>T (p.Arg773Leu) c.77G>T (p.Arg26Leu) c.248G>T (p.Arg83Leu) c.2363G>T (p.Arg788Leu) | dbSNP gnomAD v4 |
2 | g.26477504C= | CA1239830201 | OTOF | c.2318G= (p.Arg773=) c.77G= (p.Arg26=) c.248G= (p.Arg83=) c.2363G= (p.Arg788=) | |
2 | g.26477504C>G | CA346123417 | OTOF | c.2318G>C (p.Arg773Pro) c.77G>C (p.Arg26Pro) c.248G>C (p.Arg83Pro) c.2363G>C (p.Arg788Pro) | |
2 | g.26477504C>T | CA1563949 | OTOF | c.2318G>A (p.Arg773His) c.77G>A (p.Arg26His) c.248G>A (p.Arg83His) c.2363G>A (p.Arg788His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477505G>A | CA142793 | OTOF | c.2317C>T (p.Arg773Cys) c.76C>T (p.Arg26Cys) c.247C>T (p.Arg83Cys) c.2362C>T (p.Arg788Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477505G>C | CA346123418 | OTOF | c.2317C>G (p.Arg773Gly) c.76C>G (p.Arg26Gly) c.247C>G (p.Arg83Gly) c.2362C>G (p.Arg788Gly) | |
2 | g.26477505G= | CA1239830207 | OTOF | c.2317C= (p.Arg773=) c.76C= (p.Arg26=) c.247C= (p.Arg83=) c.2362C= (p.Arg788=) | |
2 | g.26477505G>T | CA346123419 | OTOF | c.2317C>A (p.Arg773Ser) c.76C>A (p.Arg26Ser) c.247C>A (p.Arg83Ser) c.2362C>A (p.Arg788Ser) | gnomAD v4 |
2 | g.26477505_26477513dup | CA2576699510 | OTOF | c.2316-7_2317dup c.75-7_76dup c.246-7_247dup c.2361-7_2362dup | |
2 | g.26477506G>A | CA425360078 | OTOF | c.2316C>T (p.Cys772=) c.75C>T (p.Cys25=) c.246C>T (p.Cys82=) c.2361C>T (p.Cys787=) | gnomAD v4 |
2 | g.26477506G>C | CA346123420 | OTOF | c.2316C>G (p.Cys772Trp) c.75C>G (p.Cys25Trp) c.246C>G (p.Cys82Trp) c.2361C>G (p.Cys787Trp) | |
2 | g.26477506G= | CA1239830212 | OTOF | c.2316C= (p.Cys772=) c.75C= (p.Cys25=) c.246C= (p.Cys82=) c.2361C= (p.Cys787=) | |
2 | g.26477506G>T | CA345104 | OTOF | c.2316C>A (p.Cys772Ter) c.75C>A (p.Cys25Ter) c.246C>A (p.Cys82Ter) c.2361C>A (p.Cys787Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.26477508_26477523dup | CA2586968838 | OTOF | c.2316-15_2316dup c.75-15_75dup c.246-15_246dup c.2361-15_2361dup | |
2 | g.26477507C>A | CA346123421 | OTOF | c.2316-1G>T (n.2316-1G>T) c.75-1G>T (n.75-1G>T) c.246-1G>T (n.246-1G>T) c.2361-1G>T (n.2361-1G>T) | gnomAD v4 |
2 | g.26477507C= | CA1239830217 | OTOF | c.2316-1G= (n.2316-1G=) c.75-1G= (n.75-1G=) c.246-1G= (n.246-1G=) c.2361-1G= (n.2361-1G=) | |
2 | g.26477507C>G | CA346123422 | OTOF | c.2316-1G>C (n.2316-1G>C) c.75-1G>C (n.75-1G>C) c.246-1G>C (n.246-1G>C) c.2361-1G>C (n.2361-1G>C) | |
2 | g.26477507C>T | CA346123423 | OTOF | c.2316-1G>A (n.2316-1G>A) c.75-1G>A (n.75-1G>A) c.246-1G>A (n.246-1G>A) c.2361-1G>A (n.2361-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477508T>A | CA346123424 | OTOF | c.2316-2A>T (n.2316-2A>T) c.75-2A>T (n.75-2A>T) c.246-2A>T (n.246-2A>T) c.2361-2A>T (n.2361-2A>T) | |
2 | g.26477508T>C | CA346123425 | OTOF | c.2316-2A>G (n.2316-2A>G) c.75-2A>G (n.75-2A>G) c.246-2A>G (n.246-2A>G) c.2361-2A>G (n.2361-2A>G) | |
2 | g.26477508T>G | CA346123426 | OTOF | c.2316-2A>C (n.2316-2A>C) c.75-2A>C (n.75-2A>C) c.246-2A>C (n.246-2A>C) c.2361-2A>C (n.2361-2A>C) | dbSNP |
2 | g.26477508T= | CA1239830222 | OTOF | c.2316-2A= (n.2316-2A=) c.75-2A= (n.75-2A=) c.246-2A= (n.246-2A=) c.2361-2A= (n.2361-2A=) | |
2 | g.26477508dup | CA531761894 | OTOF | c.2316-2dup (n.2316-2dup) c.75-2dup (n.75-2dup) c.246-2dup (n.246-2dup) c.2361-2dup (n.2361-2dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477509G>A | CA1239830227 | OTOF | c.2316-3C>T (n.2316-3C>T) c.75-3C>T (n.75-3C>T) c.246-3C>T (n.246-3C>T) c.2361-3C>T (n.2361-3C>T) | dbSNP gnomAD v4 |
2 | g.26477509G>C | CA2658238115 | OTOF | c.2316-3C>G (n.2316-3C>G) c.75-3C>G (n.75-3C>G) c.246-3C>G (n.246-3C>G) c.2361-3C>G (n.2361-3C>G) | gnomAD v4 |
2 | g.26477509G= | CA1239830225 | OTOF | c.2316-3C= (n.2316-3C=) c.75-3C= (n.75-3C=) c.246-3C= (n.246-3C=) c.2361-3C= (n.2361-3C=) | |
2 | g.26477513dup | CA2842281667 | OTOF | c.2316-3dup (n.2316-3dup) c.75-3dup (n.75-3dup) c.246-3dup (n.246-3dup) c.2361-3dup (n.2361-3dup) | |
2 | g.26477513del | CA2576699511 | OTOF | c.2316-3del (n.2316-3del) c.75-3del (n.75-3del) c.246-3del (n.246-3del) c.2361-3del (n.2361-3del) | |
2 | g.26477510G>A | CA44398549 | OTOF | c.2316-4C>T (n.2316-4C>T) c.75-4C>T (n.75-4C>T) c.246-4C>T (n.246-4C>T) c.2361-4C>T (n.2361-4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477510G>C | CA2658238123 | OTOF | c.2316-4C>G (n.2316-4C>G) c.75-4C>G (n.75-4C>G) c.246-4C>G (n.246-4C>G) c.2361-4C>G (n.2361-4C>G) | gnomAD v4 |
2 | g.26477510G= | CA1239830232 | OTOF | c.2316-4C= (n.2316-4C=) c.75-4C= (n.75-4C=) c.246-4C= (n.246-4C=) c.2361-4C= (n.2361-4C=) | |
2 | g.26477510G>T | CA177554 | OTOF | c.2316-4C>A (n.2316-4C>A) c.75-4C>A (n.75-4C>A) c.246-4C>A (n.246-4C>A) c.2361-4C>A (n.2361-4C>A) | ClinVar dbSNP |
2 | g.26477511G>A | CA1028608372 | OTOF | c.2316-5C>T (n.2316-5C>T) c.75-5C>T (n.75-5C>T) c.246-5C>T (n.246-5C>T) c.2361-5C>T (n.2361-5C>T) | dbSNP |
2 | g.26477511G= | CA1239830234 | OTOF | c.2316-5C= (n.2316-5C=) c.75-5C= (n.75-5C=) c.246-5C= (n.246-5C=) c.2361-5C= (n.2361-5C=) | |
2 | g.26477511G>T | CA1563950 | OTOF | c.2316-5C>A (n.2316-5C>A) c.75-5C>A (n.75-5C>A) c.246-5C>A (n.246-5C>A) c.2361-5C>A (n.2361-5C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477512G>A | CA44398555 | OTOF | c.2316-6C>T (n.2316-6C>T) c.75-6C>T (n.75-6C>T) c.246-6C>T (n.246-6C>T) c.2361-6C>T (n.2361-6C>T) | ClinVar dbSNP |
2 | g.26477512G= | CA1239830238 | OTOF | c.2316-6C= (n.2316-6C=) c.75-6C= (n.75-6C=) c.246-6C= (n.246-6C=) c.2361-6C= (n.2361-6C=) | |
2 | g.26477512G>T | CA1028608387 | OTOF | c.2316-6C>A (n.2316-6C>A) c.75-6C>A (n.75-6C>A) c.246-6C>A (n.246-6C>A) c.2361-6C>A (n.2361-6C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477513G>A | CA2576699512 | OTOF | c.2316-7C>T (n.2316-7C>T) c.75-7C>T (n.75-7C>T) c.246-7C>T (n.246-7C>T) c.2361-7C>T (n.2361-7C>T) | ClinVar |
2 | g.26477514T>C | CA531761895 | OTOF | c.2316-8A>G (n.2316-8A>G) c.75-8A>G (n.75-8A>G) c.246-8A>G (n.246-8A>G) c.2361-8A>G (n.2361-8A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477514T>G | CA1239830243 | OTOF | c.2316-8A>C (n.2316-8A>C) c.75-8A>C (n.75-8A>C) c.246-8A>C (n.246-8A>C) c.2361-8A>C (n.2361-8A>C) | dbSNP gnomAD v4 |
2 | g.26477514T= | CA1239830242 | OTOF | c.2316-8A= (n.2316-8A=) c.75-8A= (n.75-8A=) c.246-8A= (n.246-8A=) c.2361-8A= (n.2361-8A=) | |
2 | g.26477515A= | CA1239830245 | OTOF | c.2316-9T= (n.2316-9T=) c.75-9T= (n.75-9T=) c.246-9T= (n.246-9T=) c.2361-9T= (n.2361-9T=) | |
2 | g.26477515A>G | CA531761896 | OTOF | c.2316-9T>C (n.2316-9T>C) c.75-9T>C (n.75-9T>C) c.246-9T>C (n.246-9T>C) c.2361-9T>C (n.2361-9T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477516G>C | CA2658238135 | OTOF | c.2316-10C>G (n.2316-10C>G) c.75-10C>G (n.75-10C>G) c.246-10C>G (n.246-10C>G) c.2361-10C>G (n.2361-10C>G) | gnomAD v4 |
2 | g.26477516G>T | CA2658238136 | OTOF | c.2316-10C>A (n.2316-10C>A) c.75-10C>A (n.75-10C>A) c.246-10C>A (n.246-10C>A) c.2361-10C>A (n.2361-10C>A) | gnomAD v4 |
2 | g.26477517G>A | CA531761897 | OTOF | c.2316-11C>T (n.2316-11C>T) c.75-11C>T (n.75-11C>T) c.246-11C>T (n.246-11C>T) c.2361-11C>T (n.2361-11C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477517G= | CA1239830247 | OTOF | c.2316-11C= (n.2316-11C=) c.75-11C= (n.75-11C=) c.246-11C= (n.246-11C=) c.2361-11C= (n.2361-11C=) | |
2 | g.26477518G>A | CA2658238138 | OTOF | c.2316-12C>T (n.2316-12C>T) c.75-12C>T (n.75-12C>T) c.246-12C>T (n.246-12C>T) c.2361-12C>T (n.2361-12C>T) | gnomAD v4 |
2 | g.26477518G= | CA1239830248 | OTOF | c.2316-12C= (n.2316-12C=) c.75-12C= (n.75-12C=) c.246-12C= (n.246-12C=) c.2361-12C= (n.2361-12C=) | |
2 | g.26477518G>T | CA531761898 | OTOF | c.2316-12C>A (n.2316-12C>A) c.75-12C>A (n.75-12C>A) c.246-12C>A (n.246-12C>A) c.2361-12C>A (n.2361-12C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477519C= | CA1239830250 | OTOF | c.2316-13G= (n.2316-13G=) c.75-13G= (n.75-13G=) c.246-13G= (n.246-13G=) c.2361-13G= (n.2361-13G=) | |
2 | g.26477519C>G | CA1239830251 | OTOF | c.2316-13G>C (n.2316-13G>C) c.75-13G>C (n.75-13G>C) c.246-13G>C (n.246-13G>C) c.2361-13G>C (n.2361-13G>C) | dbSNP |
2 | g.26477519C>T | CA1563951 | OTOF | c.2316-13G>A (n.2316-13G>A) c.75-13G>A (n.75-13G>A) c.246-13G>A (n.246-13G>A) c.2361-13G>A (n.2361-13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477520G>A | CA1563952 | OTOF | c.2316-14C>T (n.2316-14C>T) c.75-14C>T (n.75-14C>T) c.246-14C>T (n.246-14C>T) c.2361-14C>T (n.2361-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477520G>C | CA531761899 | OTOF | c.2316-14C>G (n.2316-14C>G) c.75-14C>G (n.75-14C>G) c.246-14C>G (n.246-14C>G) c.2361-14C>G (n.2361-14C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477520G= | CA1239830253 | OTOF | c.2316-14C= (n.2316-14C=) c.75-14C= (n.75-14C=) c.246-14C= (n.246-14C=) c.2361-14C= (n.2361-14C=) | |
2 | g.26477520G>T | CA2658238144 | OTOF | c.2316-14C>A (n.2316-14C>A) c.75-14C>A (n.75-14C>A) c.246-14C>A (n.246-14C>A) c.2361-14C>A (n.2361-14C>A) | gnomAD v4 |
2 | g.26477521A= | CA1239830254 | OTOF | c.2316-15T= (n.2316-15T=) c.75-15T= (n.75-15T=) c.246-15T= (n.246-15T=) c.2361-15T= (n.2361-15T=) | |
2 | g.26477521A>G | CA1239830256 | OTOF | c.2316-15T>C (n.2316-15T>C) c.75-15T>C (n.75-15T>C) c.246-15T>C (n.246-15T>C) c.2361-15T>C (n.2361-15T>C) | dbSNP |
2 | g.26477521A>T | CA44398559 | OTOF | c.2316-15T>A (n.2316-15T>A) c.75-15T>A (n.75-15T>A) c.246-15T>A (n.246-15T>A) c.2361-15T>A (n.2361-15T>A) | dbSNP gnomAD v3 |
2 | g.26477522G>A | CA531761900 | OTOF | c.2316-16C>T (n.2316-16C>T) c.75-16C>T (n.75-16C>T) c.246-16C>T (n.246-16C>T) c.2361-16C>T (n.2361-16C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477522G= | CA1239830259 | OTOF | c.2316-16C= (n.2316-16C=) c.75-16C= (n.75-16C=) c.246-16C= (n.246-16C=) c.2361-16C= (n.2361-16C=) | |
2 | g.26477522G>T | CA2658238146 | OTOF | c.2316-16C>A (n.2316-16C>A) c.75-16C>A (n.75-16C>A) c.246-16C>A (n.246-16C>A) c.2361-16C>A (n.2361-16C>A) | gnomAD v4 |
2 | g.26477522_26477523delinsGC | CA1239830260 | OTOF | c.2316-17_2316-16delinsGC (n.2316-17_2316-16delinsGC) c.75-17_75-16delinsGC (n.75-17_75-16delinsGC) c.246-17_246-16delinsGC (n.246-17_246-16delinsGC) c.2361-17_2361-16delinsGC (n.2361-17_2361-16delinsGC) | |
2 | g.26477523C>A | CA1239830266 | OTOF | c.2316-17G>T (n.2316-17G>T) c.75-17G>T (n.75-17G>T) c.246-17G>T (n.246-17G>T) c.2361-17G>T (n.2361-17G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.26477523C= | CA1239830264 | OTOF | c.2316-17G= (n.2316-17G=) c.75-17G= (n.75-17G=) c.246-17G= (n.246-17G=) c.2361-17G= (n.2361-17G=) | |
2 | g.26477523C>T | CA2658238150 | OTOF | c.2316-17G>A (n.2316-17G>A) c.75-17G>A (n.75-17G>A) c.246-17G>A (n.246-17G>A) c.2361-17G>A (n.2361-17G>A) | gnomAD v4 |
2 | g.26477524del | CA531761901 | OTOF | c.2316-17del (n.2316-17del) c.75-17del (n.75-17del) c.246-17del (n.246-17del) c.2361-17del (n.2361-17del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477524C>A | CA2658238152 | OTOF | c.2316-18G>T (n.2316-18G>T) c.75-18G>T (n.75-18G>T) c.246-18G>T (n.246-18G>T) c.2361-18G>T (n.2361-18G>T) | ClinVar gnomAD v4 |
2 | g.26477524C= | CA1239830269 | OTOF | c.2316-18G= (n.2316-18G=) c.75-18G= (n.75-18G=) c.246-18G= (n.246-18G=) c.2361-18G= (n.2361-18G=) | |
2 | g.26477524C>G | CA2658238154 | OTOF | c.2316-18G>C (n.2316-18G>C) c.75-18G>C (n.75-18G>C) c.246-18G>C (n.246-18G>C) c.2361-18G>C (n.2361-18G>C) | gnomAD v4 |
2 | g.26477524C>T | CA1563953 | OTOF | c.2316-18G>A (n.2316-18G>A) c.75-18G>A (n.75-18G>A) c.246-18G>A (n.246-18G>A) c.2361-18G>A (n.2361-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477525G>A | CA1563954 | OTOF | c.2316-19C>T (n.2316-19C>T) c.75-19C>T (n.75-19C>T) c.246-19C>T (n.246-19C>T) c.2361-19C>T (n.2361-19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477525G= | CA1239830271 | OTOF | c.2316-19C= (n.2316-19C=) c.75-19C= (n.75-19C=) c.246-19C= (n.246-19C=) c.2361-19C= (n.2361-19C=) | |
2 | g.26477525G>T | CA2658238158 | OTOF | c.2316-19C>A (n.2316-19C>A) c.75-19C>A (n.75-19C>A) c.246-19C>A (n.246-19C>A) c.2361-19C>A (n.2361-19C>A) | ClinVar gnomAD v4 |
2 | g.26477528dup | CA2749240627 | OTOF | c.2316-19dup (n.2316-19dup) c.75-19dup (n.75-19dup) c.246-19dup (n.246-19dup) c.2361-19dup (n.2361-19dup) | |
2 | g.26477526G>A | CA2658238159 | OTOF | c.2316-20C>T (n.2316-20C>T) c.75-20C>T (n.75-20C>T) c.246-20C>T (n.246-20C>T) c.2361-20C>T (n.2361-20C>T) | gnomAD v4 |
2 | g.26477526G>T | CA2842281668 | OTOF | c.2316-20C>A (n.2316-20C>A) c.75-20C>A (n.75-20C>A) c.246-20C>A (n.246-20C>A) c.2361-20C>A (n.2361-20C>A) | |
2 | g.26477526_26477556delinsGGGTTTAGCGAGCCTGACCAGCAGGGGCTCT | CA1239830272 | OTOF | c.2316-50_2316-20delinsAGAGCCCCTGCTGGTCAGGCTCGCTAAACCC (n.2316-50_2316-20delinsAGAGCCCCTGCTGGTCAGGCTCGCTAAACCC) c.75-50_75-20delinsAGAGCCCCTGCTGGTCAGGCTCGCTAAACCC (n.75-50_75-20delinsAGAGCCCCTGCTGGTCAGGCTCGCTAAACCC) c.246-50_246-20delinsAGAGCCCCTGCTGGTCAGGCTCGCTAAACCC (n.246-50_246-20delinsAGAGCCCCTGCTGGTCAGGCTCGCTAAACCC) c.2361-50_2361-20delinsAGAGCCCCTGCTGGTCAGGCTCGCTAAACCC (n.2361-50_2361-20delinsAGAGCCCCTGCTGGTCAGGCTCGCTAAACCC) | |
2 | g.26477527G>T | CA2576699513 | OTOF | c.2316-21C>A (n.2316-21C>A) c.75-21C>A (n.75-21C>A) c.246-21C>A (n.246-21C>A) c.2361-21C>A (n.2361-21C>A) | gnomAD v4 |
2 | g.26477528_26477557del | CA531761902 | OTOF | c.2316-50_2316-21del (n.2316-50_2316-21del) c.75-50_75-21del (n.75-50_75-21del) c.246-50_246-21del (n.246-50_246-21del) c.2361-50_2361-21del (n.2361-50_2361-21del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477528G= | CA1239830274 | OTOF | c.2316-22C= (n.2316-22C=) c.75-22C= (n.75-22C=) c.246-22C= (n.246-22C=) c.2361-22C= (n.2361-22C=) | |
2 | g.26477528G>T | CA531761903 | OTOF | c.2316-22C>A (n.2316-22C>A) c.75-22C>A (n.75-22C>A) c.246-22C>A (n.246-22C>A) c.2361-22C>A (n.2361-22C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477529T>G | CA1239830278 | OTOF | c.2316-23A>C (n.2316-23A>C) c.75-23A>C (n.75-23A>C) c.246-23A>C (n.246-23A>C) c.2361-23A>C (n.2361-23A>C) | dbSNP |
2 | g.26477529T= | CA1239830277 | OTOF | c.2316-23A= (n.2316-23A=) c.75-23A= (n.75-23A=) c.246-23A= (n.246-23A=) c.2361-23A= (n.2361-23A=) | |
2 | g.26477531T>A | CA2658238161 | OTOF | c.2316-25A>T (n.2316-25A>T) c.75-25A>T (n.75-25A>T) c.246-25A>T (n.246-25A>T) c.2361-25A>T (n.2361-25A>T) | gnomAD v4 |
2 | g.26477531T>C | CA1239830281 | OTOF | c.2316-25A>G (n.2316-25A>G) c.75-25A>G (n.75-25A>G) c.246-25A>G (n.246-25A>G) c.2361-25A>G (n.2361-25A>G) | dbSNP gnomAD v4 |
2 | g.26477531T= | CA1239830280 | OTOF | c.2316-25A= (n.2316-25A=) c.75-25A= (n.75-25A=) c.246-25A= (n.246-25A=) c.2361-25A= (n.2361-25A=) | |
2 | g.26477532A= | CA1239830282 | OTOF | c.2316-26T= (n.2316-26T=) c.75-26T= (n.75-26T=) c.246-26T= (n.246-26T=) c.2361-26T= (n.2361-26T=) | |
2 | g.26477532A>G | CA531761904 | OTOF | c.2316-26T>C (n.2316-26T>C) c.75-26T>C (n.75-26T>C) c.246-26T>C (n.246-26T>C) c.2361-26T>C (n.2361-26T>C) | dbSNP gnomAD v2 gnomAD v4 |