Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26477423C>ACA346122982OTOFc.2399G>T (p.Arg800Met)
c.158G>T (p.Arg53Met)
c.329G>T (p.Arg110Met)
c.2444G>T (p.Arg815Met)
 gnomAD v4
2g.26477423C=CA1239830062OTOFc.2399G= (p.Arg800=)
c.158G= (p.Arg53=)
c.329G= (p.Arg110=)
c.2444G= (p.Arg815=)
2g.26477423C>GCA346122984OTOFc.2399G>C (p.Arg800Thr)
c.158G>C (p.Arg53Thr)
c.329G>C (p.Arg110Thr)
c.2444G>C (p.Arg815Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.26477423C>TCA346122985OTOFc.2399G>A (p.Arg800Lys)
c.158G>A (p.Arg53Lys)
c.329G>A (p.Arg110Lys)
c.2444G>A (p.Arg815Lys)
2g.26477424T>ACA346122988OTOFc.2398A>T (p.Arg800Trp)
c.157A>T (p.Arg53Trp)
c.328A>T (p.Arg110Trp)
c.2443A>T (p.Arg815Trp)
2g.26477424T>CCA346122989OTOFc.2398A>G (p.Arg800Gly)
c.157A>G (p.Arg53Gly)
c.328A>G (p.Arg110Gly)
c.2443A>G (p.Arg815Gly)
 gnomAD v4
2g.26477424T>GCA425360036OTOFc.2398A>C (p.Arg800=)
c.157A>C (p.Arg53=)
c.328A>C (p.Arg110=)
c.2443A>C (p.Arg815=)
2g.26477425C>ACA346122991OTOFc.2397G>T (p.Met799Ile)
c.156G>T (p.Met52Ile)
c.327G>T (p.Met109Ile)
c.2442G>T (p.Met814Ile)
 gnomAD v4
2g.26477425C>GCA346122993OTOFc.2397G>C (p.Met799Ile)
c.156G>C (p.Met52Ile)
c.327G>C (p.Met109Ile)
c.2442G>C (p.Met814Ile)
2g.26477425C>TCA346122995OTOFc.2397G>A (p.Met799Ile)
c.156G>A (p.Met52Ile)
c.327G>A (p.Met109Ile)
c.2442G>A (p.Met814Ile)
2g.26477426A>CCA346122997OTOFc.2396T>G (p.Met799Arg)
c.155T>G (p.Met52Arg)
c.326T>G (p.Met109Arg)
c.2441T>G (p.Met814Arg)
2g.26477426A>GCA346122998OTOFc.2396T>C (p.Met799Thr)
c.155T>C (p.Met52Thr)
c.326T>C (p.Met109Thr)
c.2441T>C (p.Met814Thr)
2g.26477426A>TCA346122999OTOFc.2396T>A (p.Met799Lys)
c.155T>A (p.Met52Lys)
c.326T>A (p.Met109Lys)
c.2441T>A (p.Met814Lys)
 gnomAD v4
2g.26477427T>ACA346123003OTOFc.2395A>T (p.Met799Leu)
c.154A>T (p.Met52Leu)
c.325A>T (p.Met109Leu)
c.2440A>T (p.Met814Leu)
2g.26477427T>CCA346123006OTOFc.2395A>G (p.Met799Val)
c.154A>G (p.Met52Val)
c.325A>G (p.Met109Val)
c.2440A>G (p.Met814Val)
 gnomAD v4
2g.26477427T>GCA346123010OTOFc.2395A>C (p.Met799Leu)
c.154A>C (p.Met52Leu)
c.325A>C (p.Met109Leu)
c.2440A>C (p.Met814Leu)
2g.26477428G>ACA425360043OTOFc.2394C>T (p.Cys798=)
c.153C>T (p.Cys51=)
c.324C>T (p.Cys108=)
c.2439C>T (p.Cys813=)
 gnomAD v4
2g.26477428G>CCA346123024OTOFc.2394C>G (p.Cys798Trp)
c.153C>G (p.Cys51Trp)
c.324C>G (p.Cys108Trp)
c.2439C>G (p.Cys813Trp)
2g.26477428G>TCA346123028OTOFc.2394C>A (p.Cys798Ter)
c.153C>A (p.Cys51Ter)
c.324C>A (p.Cys108Ter)
c.2439C>A (p.Cys813Ter)
 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477429C>ACA1563937OTOFc.2393G>T (p.Cys798Phe)
c.152G>T (p.Cys51Phe)
c.323G>T (p.Cys108Phe)
c.2438G>T (p.Cys813Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477429C=CA1239830065OTOFc.2393G= (p.Cys798=)
c.152G= (p.Cys51=)
c.323G= (p.Cys108=)
c.2438G= (p.Cys813=)
2g.26477429C>GCA346123039OTOFc.2393G>C (p.Cys798Ser)
c.152G>C (p.Cys51Ser)
c.323G>C (p.Cys108Ser)
c.2438G>C (p.Cys813Ser)
2g.26477429C>TCA346123040OTOFc.2393G>A (p.Cys798Tyr)
c.152G>A (p.Cys51Tyr)
c.323G>A (p.Cys108Tyr)
c.2438G>A (p.Cys813Tyr)
 gnomAD v4
2g.26477430A=CA1239830067OTOFc.2392T= (p.Cys798=)
c.151T= (p.Cys51=)
c.322T= (p.Cys108=)
c.2437T= (p.Cys813=)
2g.26477430A>CCA346123041OTOFc.2392T>G (p.Cys798Gly)
c.151T>G (p.Cys51Gly)
c.322T>G (p.Cys108Gly)
c.2437T>G (p.Cys813Gly)
2g.26477430A>GCA44398468OTOFc.2392T>C (p.Cys798Arg)
c.151T>C (p.Cys51Arg)
c.322T>C (p.Cys108Arg)
c.2437T>C (p.Cys813Arg)
 ClinVar dbSNP gnomAD v4
2g.26477430A>TCA346123051OTOFc.2392T>A (p.Cys798Ser)
c.151T>A (p.Cys51Ser)
c.322T>A (p.Cys108Ser)
c.2437T>A (p.Cys813Ser)
 gnomAD v4
2g.26477431G>ACA425360048OTOFc.2391C>T (p.Ser797=)
c.150C>T (p.Ser50=)
c.321C>T (p.Ser107=)
c.2436C>T (p.Ser812=)
 gnomAD v4
2g.26477431G>CCA425360050OTOFc.2391C>G (p.Ser797=)
c.150C>G (p.Ser50=)
c.321C>G (p.Ser107=)
c.2436C>G (p.Ser812=)
2g.26477431G>TCA425360052OTOFc.2391C>A (p.Ser797=)
c.150C>A (p.Ser50=)
c.321C>A (p.Ser107=)
c.2436C>A (p.Ser812=)
 gnomAD v4
2g.26477432G>ACA346123063OTOFc.2390C>T (p.Ser797Phe)
c.149C>T (p.Ser50Phe)
c.320C>T (p.Ser107Phe)
c.2435C>T (p.Ser812Phe)
2g.26477432G>CCA346123066OTOFc.2390C>G (p.Ser797Cys)
c.149C>G (p.Ser50Cys)
c.320C>G (p.Ser107Cys)
c.2435C>G (p.Ser812Cys)
2g.26477432G>TCA346123069OTOFc.2390C>A (p.Ser797Tyr)
c.149C>A (p.Ser50Tyr)
c.320C>A (p.Ser107Tyr)
c.2435C>A (p.Ser812Tyr)
2g.26477433A>CCA346123073OTOFc.2389T>G (p.Ser797Ala)
c.148T>G (p.Ser50Ala)
c.319T>G (p.Ser107Ala)
c.2434T>G (p.Ser812Ala)
2g.26477433A>GCA346123074OTOFc.2389T>C (p.Ser797Pro)
c.148T>C (p.Ser50Pro)
c.319T>C (p.Ser107Pro)
c.2434T>C (p.Ser812Pro)
2g.26477433A>TCA346123075OTOFc.2389T>A (p.Ser797Thr)
c.148T>A (p.Ser50Thr)
c.319T>A (p.Ser107Thr)
c.2434T>A (p.Ser812Thr)
2g.26477434C>ACA346123085OTOFc.2388G>T (p.Lys796Asn)
c.147G>T (p.Lys49Asn)
c.318G>T (p.Lys106Asn)
c.2433G>T (p.Lys811Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.26477434C=CA1239830069OTOFc.2388G= (p.Lys796=)
c.147G= (p.Lys49=)
c.318G= (p.Lys106=)
c.2433G= (p.Lys811=)
2g.26477434C>GCA346123079OTOFc.2388G>C (p.Lys796Asn)
c.147G>C (p.Lys49Asn)
c.318G>C (p.Lys106Asn)
c.2433G>C (p.Lys811Asn)
2g.26477434C>TCA425360055OTOFc.2388G>A (p.Lys796=)
c.147G>A (p.Lys49=)
c.318G>A (p.Lys106=)
c.2433G>A (p.Lys811=)
2g.26477435T>ACA346123091OTOFc.2387A>T (p.Lys796Met)
c.146A>T (p.Lys49Met)
c.317A>T (p.Lys106Met)
c.2432A>T (p.Lys811Met)
2g.26477435T>CCA346123101OTOFc.2387A>G (p.Lys796Arg)
c.146A>G (p.Lys49Arg)
c.317A>G (p.Lys106Arg)
c.2432A>G (p.Lys811Arg)
2g.26477435T>GCA346123093OTOFc.2387A>C (p.Lys796Thr)
c.146A>C (p.Lys49Thr)
c.317A>C (p.Lys106Thr)
c.2432A>C (p.Lys811Thr)
2g.26477436T>ACA346123104OTOFc.2386A>T (p.Lys796Ter)
c.145A>T (p.Lys49Ter)
c.316A>T (p.Lys106Ter)
c.2431A>T (p.Lys811Ter)
2g.26477436T>CCA346123106OTOFc.2386A>G (p.Lys796Glu)
c.145A>G (p.Lys49Glu)
c.316A>G (p.Lys106Glu)
c.2431A>G (p.Lys811Glu)
 gnomAD v4
2g.26477436T>GCA346123108OTOFc.2386A>C (p.Lys796Gln)
c.145A>C (p.Lys49Gln)
c.316A>C (p.Lys106Gln)
c.2431A>C (p.Lys811Gln)
2g.26477437G>ACA425360061OTOFc.2385C>T (p.Leu795=)
c.144C>T (p.Leu48=)
c.315C>T (p.Leu105=)
c.2430C>T (p.Leu810=)
 gnomAD v4
2g.26477437G>CCA425360062OTOFc.2385C>G (p.Leu795=)
c.144C>G (p.Leu48=)
c.315C>G (p.Leu105=)
c.2430C>G (p.Leu810=)
2g.26477437G>TCA425360063OTOFc.2385C>A (p.Leu795=)
c.144C>A (p.Leu48=)
c.315C>A (p.Leu105=)
c.2430C>A (p.Leu810=)
 gnomAD v4
2g.26477438_26477440delCA2698921354OTOFc.2383_2385del (p.Leu795del)
c.142_144del (p.Leu48del)
c.313_315del (p.Leu105del)
c.2428_2430del (p.Leu810del)
 dbSNP
2g.26477438A>CCA346123111OTOFc.2384T>G (p.Leu795Arg)
c.143T>G (p.Leu48Arg)
c.314T>G (p.Leu105Arg)
c.2429T>G (p.Leu810Arg)
2g.26477438A>GCA346123115OTOFc.2384T>C (p.Leu795Pro)
c.143T>C (p.Leu48Pro)
c.314T>C (p.Leu105Pro)
c.2429T>C (p.Leu810Pro)
 gnomAD v4
2g.26477438A>TCA346123119OTOFc.2384T>A (p.Leu795His)
c.143T>A (p.Leu48His)
c.314T>A (p.Leu105His)
c.2429T>A (p.Leu810His)
 gnomAD v4
2g.26477439G>ACA346123123OTOFc.2383C>T (p.Leu795Phe)
c.142C>T (p.Leu48Phe)
c.313C>T (p.Leu105Phe)
c.2428C>T (p.Leu810Phe)
 ClinVar dbSNP gnomAD v4
2g.26477439G>CCA346123126OTOFc.2383C>G (p.Leu795Val)
c.142C>G (p.Leu48Val)
c.313C>G (p.Leu105Val)
c.2428C>G (p.Leu810Val)
 gnomAD v4
2g.26477439G>TCA346123129OTOFc.2383C>A (p.Leu795Ile)
c.142C>A (p.Leu48Ile)
c.313C>A (p.Leu105Ile)
c.2428C>A (p.Leu810Ile)
2g.26477440delCA2586968837OTOFc.2383del (p.Leu795SerfsTer5)
c.142del (p.Leu48SerfsTer5)
c.313del (p.Leu105SerfsTer5)
c.2428del (p.Leu810SerfsTer5)
2g.26477440G>ACA425360069OTOFc.2382C>T (p.Arg794=)
c.141C>T (p.Arg47=)
c.312C>T (p.Arg104=)
c.2427C>T (p.Arg809=)
 gnomAD v4
2g.26477440G>CCA425360072OTOFc.2382C>G (p.Arg794=)
c.141C>G (p.Arg47=)
c.312C>G (p.Arg104=)
c.2427C>G (p.Arg809=)
2g.26477440G>TCA425360068OTOFc.2382C>A (p.Arg794=)
c.141C>A (p.Arg47=)
c.312C>A (p.Arg104=)
c.2427C>A (p.Arg809=)
2g.26477441C>ACA346123134OTOFc.2381G>T (p.Arg794Leu)
c.140G>T (p.Arg47Leu)
c.311G>T (p.Arg104Leu)
c.2426G>T (p.Arg809Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.26477441C=CA1239830073OTOFc.2381G= (p.Arg794=)
c.140G= (p.Arg47=)
c.311G= (p.Arg104=)
c.2426G= (p.Arg809=)
2g.26477441C>GCA346123137OTOFc.2381G>C (p.Arg794Pro)
c.140G>C (p.Arg47Pro)
c.311G>C (p.Arg104Pro)
c.2426G>C (p.Arg809Pro)
2g.26477441C>TCA142799OTOFc.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
2g.26477442G>ACA1563938OTOFc.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
2g.26477442G>CCA346123143OTOFc.2380C>G (p.Arg794Gly)
c.139C>G (p.Arg47Gly)
c.310C>G (p.Arg104Gly)
c.2425C>G (p.Arg809Gly)
2g.26477442G=CA1239830078OTOFc.2380C= (p.Arg794=)
c.139C= (p.Arg47=)
c.310C= (p.Arg104=)
c.2425C= (p.Arg809=)
2g.26477442G>TCA346123145OTOFc.2380C>A (p.Arg794Ser)
c.139C>A (p.Arg47Ser)
c.310C>A (p.Arg104Ser)
c.2425C>A (p.Arg809Ser)
 gnomAD v4
2g.26477443C>ACA346123150OTOFc.2379G>T (p.Glu793Asp)
c.138G>T (p.Glu46Asp)
c.309G>T (p.Glu103Asp)
c.2424G>T (p.Glu808Asp)
2g.26477443C=CA1239830080OTOFc.2379G= (p.Glu793=)
c.138G= (p.Glu46=)
c.309G= (p.Glu103=)
c.2424G= (p.Glu808=)
2g.26477443C>GCA346123154OTOFc.2379G>C (p.Glu793Asp)
c.138G>C (p.Glu46Asp)
c.309G>C (p.Glu103Asp)
c.2424G>C (p.Glu808Asp)
2g.26477443C>TCA425359969OTOFc.2379G>A (p.Glu793=)
c.138G>A (p.Glu46=)
c.309G>A (p.Glu103=)
c.2424G>A (p.Glu808=)
 dbSNP gnomAD v2
2g.26477444T>ACA346123159OTOFc.2378A>T (p.Glu793Val)
c.137A>T (p.Glu46Val)
c.308A>T (p.Glu103Val)
c.2423A>T (p.Glu808Val)
2g.26477444T>CCA346123161OTOFc.2378A>G (p.Glu793Gly)
c.137A>G (p.Glu46Gly)
c.308A>G (p.Glu103Gly)
c.2423A>G (p.Glu808Gly)
 gnomAD v4
2g.26477444T>GCA346123163OTOFc.2378A>C (p.Glu793Ala)
c.137A>C (p.Glu46Ala)
c.308A>C (p.Glu103Ala)
c.2423A>C (p.Glu808Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.26477444T=CA1239830082OTOFc.2378A= (p.Glu793=)
c.137A= (p.Glu46=)
c.308A= (p.Glu103=)
c.2423A= (p.Glu808=)
2g.26477445C>ACA346123167OTOFc.2377G>T (p.Glu793Ter)
c.136G>T (p.Glu46Ter)
c.307G>T (p.Glu103Ter)
c.2422G>T (p.Glu808Ter)
 ClinVar gnomAD v4
2g.26477445C=CA1239830084OTOFc.2377G= (p.Glu793=)
c.136G= (p.Glu46=)
c.307G= (p.Glu103=)
c.2422G= (p.Glu808=)
2g.26477445C>GCA346123169OTOFc.2377G>C (p.Glu793Gln)
c.136G>C (p.Glu46Gln)
c.307G>C (p.Glu103Gln)
c.2422G>C (p.Glu808Gln)
 dbSNP
2g.26477445C>TCA346123171OTOFc.2377G>A (p.Glu793Lys)
c.136G>A (p.Glu46Lys)
c.307G>A (p.Glu103Lys)
c.2422G>A (p.Glu808Lys)
2g.26477447delCA2658238000OTOFc.2377del (p.Glu793SerfsTer7)
c.136del (p.Glu46SerfsTer7)
c.307del (p.Glu103SerfsTer7)
c.2422del (p.Glu808SerfsTer7)
 gnomAD v4
2g.26477446C>ACA425359974OTOFc.2376G>T (p.Arg792=)
c.135G>T (p.Arg45=)
c.306G>T (p.Arg102=)
c.2421G>T (p.Arg807=)
 gnomAD v4
2g.26477446C=CA1239830088OTOFc.2376G= (p.Arg792=)
c.135G= (p.Arg45=)
c.306G= (p.Arg102=)
c.2421G= (p.Arg807=)
2g.26477446C>GCA425359975OTOFc.2376G>C (p.Arg792=)
c.135G>C (p.Arg45=)
c.306G>C (p.Arg102=)
c.2421G>C (p.Arg807=)
 dbSNP gnomAD v2 gnomAD v4
2g.26477446C>TCA44398485OTOFc.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
2g.26477447C>ACA346123178OTOFc.2375G>T (p.Arg792Leu)
c.134G>T (p.Arg45Leu)
c.305G>T (p.Arg102Leu)
c.2420G>T (p.Arg807Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.26477447C=CA1239830094OTOFc.2375G= (p.Arg792=)
c.134G= (p.Arg45=)
c.305G= (p.Arg102=)
c.2420G= (p.Arg807=)
2g.26477447C>GCA1563939OTOFc.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
2g.26477447C>TCA142795OTOFc.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
2g.26477448G>ACA177552OTOFc.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
2g.26477448G>CCA346123196OTOFc.2374C>G (p.Arg792Gly)
c.133C>G (p.Arg45Gly)
c.304C>G (p.Arg102Gly)
c.2419C>G (p.Arg807Gly)
2g.26477448G=CA1239830099OTOFc.2374C= (p.Arg792=)
c.133C= (p.Arg45=)
c.304C= (p.Arg102=)
c.2419C= (p.Arg807=)
2g.26477448G>TCA425359976OTOFc.2374C>A (p.Arg792=)
c.133C>A (p.Arg45=)
c.304C>A (p.Arg102=)
c.2419C>A (p.Arg807=)
 dbSNP gnomAD v3 gnomAD v4
2g.26477449G>ACA425359977OTOFc.2373C>T (p.Asp791=)
c.132C>T (p.Asp44=)
c.303C>T (p.Asp101=)
c.2418C>T (p.Asp806=)
 gnomAD v4
2g.26477449G>CCA346123201OTOFc.2373C>G (p.Asp791Glu)
c.132C>G (p.Asp44Glu)
c.303C>G (p.Asp101Glu)
c.2418C>G (p.Asp806Glu)
2g.26477449G>TCA346123203OTOFc.2373C>A (p.Asp791Glu)
c.132C>A (p.Asp44Glu)
c.303C>A (p.Asp101Glu)
c.2418C>A (p.Asp806Glu)
 gnomAD v4
2g.26477450T>ACA346123206OTOFc.2372A>T (p.Asp791Val)
c.131A>T (p.Asp44Val)
c.302A>T (p.Asp101Val)
c.2417A>T (p.Asp806Val)
2g.26477450T>CCA346123207OTOFc.2372A>G (p.Asp791Gly)
c.131A>G (p.Asp44Gly)
c.302A>G (p.Asp101Gly)
c.2417A>G (p.Asp806Gly)
 gnomAD v4
2g.26477450T>GCA346123209OTOFc.2372A>C (p.Asp791Ala)
c.131A>C (p.Asp44Ala)
c.302A>C (p.Asp101Ala)
c.2417A>C (p.Asp806Ala)
2g.26477451C>ACA346123212OTOFc.2371G>T (p.Asp791Tyr)
c.130G>T (p.Asp44Tyr)
c.301G>T (p.Asp101Tyr)
c.2416G>T (p.Asp806Tyr)
 gnomAD v4
2g.26477451C=CA1239830103OTOFc.2371G= (p.Asp791=)
c.130G= (p.Asp44=)
c.301G= (p.Asp101=)
c.2416G= (p.Asp806=)
2g.26477451C>GCA346123214OTOFc.2371G>C (p.Asp791His)
c.130G>C (p.Asp44His)
c.301G>C (p.Asp101His)
c.2416G>C (p.Asp806His)
2g.26477451C>TCA346123217OTOFc.2371G>A (p.Asp791Asn)
c.130G>A (p.Asp44Asn)
c.301G>A (p.Asp101Asn)
c.2416G>A (p.Asp806Asn)
 gnomAD v4
2g.26477451_26477452insTCA262044OTOFc.2370_2371insA (p.Asp791ArgfsTer?)
c.129_130insA (p.Asp44ArgfsTer?)
c.300_301insA (p.Asp101ArgfsTer?)
c.2415_2416insA (p.Asp806ArgfsTer?)
 ClinVar dbSNP
2g.26477452A>CCA425359980OTOFc.2370T>G (p.Leu790=)
c.129T>G (p.Leu43=)
c.300T>G (p.Leu100=)
c.2415T>G (p.Leu805=)
2g.26477452A>GCA425359981OTOFc.2370T>C (p.Leu790=)
c.129T>C (p.Leu43=)
c.300T>C (p.Leu100=)
c.2415T>C (p.Leu805=)
 gnomAD v4
2g.26477452A>TCA425359983OTOFc.2370T>A (p.Leu790=)
c.129T>A (p.Leu43=)
c.300T>A (p.Leu100=)
c.2415T>A (p.Leu805=)
 ClinVar
2g.26477453A>CCA346123224OTOFc.2369T>G (p.Leu790Arg)
c.128T>G (p.Leu43Arg)
c.299T>G (p.Leu100Arg)
c.2414T>G (p.Leu805Arg)
 gnomAD v4
2g.26477453A>GCA346123226OTOFc.2369T>C (p.Leu790Pro)
c.128T>C (p.Leu43Pro)
c.299T>C (p.Leu100Pro)
c.2414T>C (p.Leu805Pro)
2g.26477453A>TCA346123228OTOFc.2369T>A (p.Leu790His)
c.128T>A (p.Leu43His)
c.299T>A (p.Leu100His)
c.2414T>A (p.Leu805His)
2g.26477454G>ACA346123232OTOFc.2368C>T (p.Leu790Phe)
c.127C>T (p.Leu43Phe)
c.298C>T (p.Leu100Phe)
c.2413C>T (p.Leu805Phe)
 gnomAD v4
2g.26477454G>CCA346123236OTOFc.2368C>G (p.Leu790Val)
c.127C>G (p.Leu43Val)
c.298C>G (p.Leu100Val)
c.2413C>G (p.Leu805Val)
2g.26477454G>TCA346123238OTOFc.2368C>A (p.Leu790Ile)
c.127C>A (p.Leu43Ile)
c.298C>A (p.Leu100Ile)
c.2413C>A (p.Leu805Ile)
 gnomAD v4
2g.26477455C>ACA346123241OTOFc.2367G>T (p.Arg789Ser)
c.126G>T (p.Arg42Ser)
c.297G>T (p.Arg99Ser)
c.2412G>T (p.Arg804Ser)
 gnomAD v4
2g.26477455C=CA1239830110OTOFc.2367G= (p.Arg789=)
c.126G= (p.Arg42=)
c.297G= (p.Arg99=)
c.2412G= (p.Arg804=)
2g.26477455C>GCA346123244OTOFc.2367G>C (p.Arg789Ser)
c.126G>C (p.Arg42Ser)
c.297G>C (p.Arg99Ser)
c.2412G>C (p.Arg804Ser)
2g.26477455C>TCA44398499OTOFc.2367G>A (p.Arg789=)
c.126G>A (p.Arg42=)
c.297G>A (p.Arg99=)
c.2412G>A (p.Arg804=)
 dbSNP gnomAD v4
2g.26477456C>ACA346123247OTOFc.2366G>T (p.Arg789Met)
c.125G>T (p.Arg42Met)
c.296G>T (p.Arg99Met)
c.2411G>T (p.Arg804Met)
 gnomAD v4
2g.26477456C>GCA346123249OTOFc.2366G>C (p.Arg789Thr)
c.125G>C (p.Arg42Thr)
c.296G>C (p.Arg99Thr)
c.2411G>C (p.Arg804Thr)
2g.26477456C>TCA346123251OTOFc.2366G>A (p.Arg789Lys)
c.125G>A (p.Arg42Lys)
c.296G>A (p.Arg99Lys)
c.2411G>A (p.Arg804Lys)
2g.26477457T>ACA346123253OTOFc.2365A>T (p.Arg789Trp)
c.124A>T (p.Arg42Trp)
c.295A>T (p.Arg99Trp)
c.2410A>T (p.Arg804Trp)
 gnomAD v4
2g.26477457T>CCA346123256OTOFc.2365A>G (p.Arg789Gly)
c.124A>G (p.Arg42Gly)
c.295A>G (p.Arg99Gly)
c.2410A>G (p.Arg804Gly)
 gnomAD v4
2g.26477457T>GCA425359988OTOFc.2365A>C (p.Arg789=)
c.124A>C (p.Arg42=)
c.295A>C (p.Arg99=)
c.2410A>C (p.Arg804=)
2g.26477458G>ACA1563940OTOFc.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
2g.26477458G>CCA425359989OTOFc.2364C>G (p.Thr788=)
c.123C>G (p.Thr41=)
c.294C>G (p.Thr98=)
c.2409C>G (p.Thr803=)
2g.26477458G=CA1239830113OTOFc.2364C= (p.Thr788=)
c.123C= (p.Thr41=)
c.294C= (p.Thr98=)
c.2409C= (p.Thr803=)
2g.26477458G>TCA425359990OTOFc.2364C>A (p.Thr788=)
c.123C>A (p.Thr41=)
c.294C>A (p.Thr98=)
c.2409C>A (p.Thr803=)
 gnomAD v4
2g.26477459G>ACA346123259OTOFc.2363C>T (p.Thr788Ile)
c.122C>T (p.Thr41Ile)
c.293C>T (p.Thr98Ile)
c.2408C>T (p.Thr803Ile)
 dbSNP
2g.26477459G>CCA346123260OTOFc.2363C>G (p.Thr788Ser)
c.122C>G (p.Thr41Ser)
c.293C>G (p.Thr98Ser)
c.2408C>G (p.Thr803Ser)
2g.26477459G=CA1239830114OTOFc.2363C= (p.Thr788=)
c.122C= (p.Thr41=)
c.293C= (p.Thr98=)
c.2408C= (p.Thr803=)
2g.26477459G>TCA346123261OTOFc.2363C>A (p.Thr788Asn)
c.122C>A (p.Thr41Asn)
c.293C>A (p.Thr98Asn)
c.2408C>A (p.Thr803Asn)
2g.26477460T>ACA346123263OTOFc.2362A>T (p.Thr788Ser)
c.121A>T (p.Thr41Ser)
c.292A>T (p.Thr98Ser)
c.2407A>T (p.Thr803Ser)
2g.26477460T>CCA346123267OTOFc.2362A>G (p.Thr788Ala)
c.121A>G (p.Thr41Ala)
c.292A>G (p.Thr98Ala)
c.2407A>G (p.Thr803Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.26477460T>GCA346123269OTOFc.2362A>C (p.Thr788Pro)
c.121A>C (p.Thr41Pro)
c.292A>C (p.Thr98Pro)
c.2407A>C (p.Thr803Pro)
 gnomAD v4
2g.26477460T=CA1239830118OTOFc.2362A= (p.Thr788=)
c.121A= (p.Thr41=)
c.292A= (p.Thr98=)
c.2407A= (p.Thr803=)
2g.26477461G>ACA1563941OTOFc.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
2g.26477461G>CCA425359993OTOFc.2361C>G (p.Arg787=)
c.120C>G (p.Arg40=)
c.291C>G (p.Arg97=)
c.2406C>G (p.Arg802=)
2g.26477461G=CA1239830120OTOFc.2361C= (p.Arg787=)
c.120C= (p.Arg40=)
c.291C= (p.Arg97=)
c.2406C= (p.Arg802=)
2g.26477461G>TCA425359992OTOFc.2361C>A (p.Arg787=)
c.120C>A (p.Arg40=)
c.291C>A (p.Arg97=)
c.2406C>A (p.Arg802=)
 gnomAD v4
2g.26477462C>ACA346123274OTOFc.2360G>T (p.Arg787Leu)
c.119G>T (p.Arg40Leu)
c.290G>T (p.Arg97Leu)
c.2405G>T (p.Arg802Leu)
 gnomAD v4
2g.26477462C=CA1239830123OTOFc.2360G= (p.Arg787=)
c.119G= (p.Arg40=)
c.290G= (p.Arg97=)
c.2405G= (p.Arg802=)
2g.26477462C>GCA346123279OTOFc.2360G>C (p.Arg787Pro)
c.119G>C (p.Arg40Pro)
c.290G>C (p.Arg97Pro)
c.2405G>C (p.Arg802Pro)
2g.26477462C>TCA44398509OTOFc.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
2g.26477463G>ACA1563942OTOFc.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
2g.26477463G>CCA346123289OTOFc.2359C>G (p.Arg787Gly)
c.118C>G (p.Arg40Gly)
c.289C>G (p.Arg97Gly)
c.2404C>G (p.Arg802Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.26477463G=CA1239830132OTOFc.2359C= (p.Arg787=)
c.118C= (p.Arg40=)
c.289C= (p.Arg97=)
c.2404C= (p.Arg802=)
2g.26477463G>TCA346123287OTOFc.2359C>A (p.Arg787Ser)
c.118C>A (p.Arg40Ser)
c.289C>A (p.Arg97Ser)
c.2404C>A (p.Arg802Ser)
 gnomAD v4
2g.26477464G>ACA425359994OTOFc.2358C>T (p.Ser786=)
c.117C>T (p.Ser39=)
c.288C>T (p.Ser96=)
c.2403C>T (p.Ser801=)
 gnomAD v4
2g.26477464G>CCA425359996OTOFc.2358C>G (p.Ser786=)
c.117C>G (p.Ser39=)
c.288C>G (p.Ser96=)
c.2403C>G (p.Ser801=)
2g.26477464G>TCA425359997OTOFc.2358C>A (p.Ser786=)
c.117C>A (p.Ser39=)
c.288C>A (p.Ser96=)
c.2403C>A (p.Ser801=)
2g.26477464_26477483dupCA2740257657OTOFc.2339_2358dup (p.Leu790AlafsTer17)
c.98_117dup (p.Leu43AlafsTer17)
c.269_288dup (p.Leu100AlafsTer17)
c.2384_2403dup (p.Leu805AlafsTer17)
2g.26477465G>ACA346123292OTOFc.2357C>T (p.Ser786Phe)
c.116C>T (p.Ser39Phe)
c.287C>T (p.Ser96Phe)
c.2402C>T (p.Ser801Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.26477465G>CCA346123297OTOFc.2357C>G (p.Ser786Cys)
c.116C>G (p.Ser39Cys)
c.287C>G (p.Ser96Cys)
c.2402C>G (p.Ser801Cys)
 gnomAD v4
2g.26477465G=CA1239830138OTOFc.2357C= (p.Ser786=)
c.116C= (p.Ser39=)
c.287C= (p.Ser96=)
c.2402C= (p.Ser801=)
2g.26477465G>TCA346123295OTOFc.2357C>A (p.Ser786Tyr)
c.116C>A (p.Ser39Tyr)
c.287C>A (p.Ser96Tyr)
c.2402C>A (p.Ser801Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.26477466A=CA1239830140OTOFc.2356T= (p.Ser786=)
c.115T= (p.Ser39=)
c.286T= (p.Ser96=)
c.2401T= (p.Ser801=)
2g.26477466A>CCA346123301OTOFc.2356T>G (p.Ser786Ala)
c.115T>G (p.Ser39Ala)
c.286T>G (p.Ser96Ala)
c.2401T>G (p.Ser801Ala)
 gnomAD v4
2g.26477466A>GCA346123302OTOFc.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
2g.26477466A>TCA346123304OTOFc.2356T>A (p.Ser786Thr)
c.115T>A (p.Ser39Thr)
c.286T>A (p.Ser96Thr)
c.2401T>A (p.Ser801Thr)
2g.26477467T>ACA425360003OTOFc.2355A>T (p.Ser785=)
c.114A>T (p.Ser38=)
c.285A>T (p.Ser95=)
c.2400A>T (p.Ser800=)
2g.26477467T>CCA425360004OTOFc.2355A>G (p.Ser785=)
c.114A>G (p.Ser38=)
c.285A>G (p.Ser95=)
c.2400A>G (p.Ser800=)
2g.26477467T>GCA425360005OTOFc.2355A>C (p.Ser785=)
c.114A>C (p.Ser38=)
c.285A>C (p.Ser95=)
c.2400A>C (p.Ser800=)
2g.26477468G>ACA1563943OTOFc.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
2g.26477468G>CCA346123310OTOFc.2354C>G (p.Ser785Ter)
c.113C>G (p.Ser38Ter)
c.284C>G (p.Ser95Ter)
c.2399C>G (p.Ser800Ter)
2g.26477468G=CA1239830143OTOFc.2354C= (p.Ser785=)
c.113C= (p.Ser38=)
c.284C= (p.Ser95=)
c.2399C= (p.Ser800=)
2g.26477468G>TCA346123313OTOFc.2354C>A (p.Ser785Ter)
c.113C>A (p.Ser38Ter)
c.284C>A (p.Ser95Ter)
c.2399C>A (p.Ser800Ter)
 gnomAD v4
2g.26477469A>CCA346123315OTOFc.2353T>G (p.Ser785Ala)
c.112T>G (p.Ser38Ala)
c.283T>G (p.Ser95Ala)
c.2398T>G (p.Ser800Ala)
2g.26477469A>GCA346123318OTOFc.2353T>C (p.Ser785Pro)
c.112T>C (p.Ser38Pro)
c.283T>C (p.Ser95Pro)
c.2398T>C (p.Ser800Pro)
 gnomAD v4
2g.26477469A>TCA346123321OTOFc.2353T>A (p.Ser785Thr)
c.112T>A (p.Ser38Thr)
c.283T>A (p.Ser95Thr)
c.2398T>A (p.Ser800Thr)
 gnomAD v4
2g.26477470G>ACA425360007OTOFc.2352C>T (p.His784=)
c.111C>T (p.His37=)
c.282C>T (p.His94=)
c.2397C>T (p.His799=)
 gnomAD v4
2g.26477470G>CCA346123324OTOFc.2352C>G (p.His784Gln)
c.111C>G (p.His37Gln)
c.282C>G (p.His94Gln)
c.2397C>G (p.His799Gln)
2g.26477470G>TCA346123327OTOFc.2352C>A (p.His784Gln)
c.111C>A (p.His37Gln)
c.282C>A (p.His94Gln)
c.2397C>A (p.His799Gln)
2g.26477471T>ACA1563944OTOFc.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
2g.26477471T>CCA346123330OTOFc.2351A>G (p.His784Arg)
c.110A>G (p.His37Arg)
c.281A>G (p.His94Arg)
c.2396A>G (p.His799Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.26477471T>GCA346123333OTOFc.2351A>C (p.His784Pro)
c.110A>C (p.His37Pro)
c.281A>C (p.His94Pro)
c.2396A>C (p.His799Pro)
2g.26477471T=CA1239830148OTOFc.2351A= (p.His784=)
c.110A= (p.His37=)
c.281A= (p.His94=)
c.2396A= (p.His799=)
2g.26477472G>ACA346123338OTOFc.2350C>T (p.His784Tyr)
c.109C>T (p.His37Tyr)
c.280C>T (p.His94Tyr)
c.2395C>T (p.His799Tyr)
 gnomAD v4
2g.26477472G>CCA346123340OTOFc.2350C>G (p.His784Asp)
c.109C>G (p.His37Asp)
c.280C>G (p.His94Asp)
c.2395C>G (p.His799Asp)
2g.26477472G=CA1239830152OTOFc.2350C= (p.His784=)
c.109C= (p.His37=)
c.280C= (p.His94=)
c.2395C= (p.His799=)
2g.26477472G>TCA346123341OTOFc.2350C>A (p.His784Asn)
c.109C>A (p.His37Asn)
c.280C>A (p.His94Asn)
c.2395C>A (p.His799Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.26477473G>ACA425360013OTOFc.2349C>T (p.Gly783=)
c.108C>T (p.Gly36=)
c.279C>T (p.Gly93=)
c.2394C>T (p.Gly798=)
2g.26477473G>CCA425360015OTOFc.2349C>G (p.Gly783=)
c.108C>G (p.Gly36=)
c.279C>G (p.Gly93=)
c.2394C>G (p.Gly798=)
 dbSNP
2g.26477473G=CA1239830157OTOFc.2349C= (p.Gly783=)
c.108C= (p.Gly36=)
c.279C= (p.Gly93=)
c.2394C= (p.Gly798=)
2g.26477473G>TCA425360016OTOFc.2349C>A (p.Gly783=)
c.108C>A (p.Gly36=)
c.279C>A (p.Gly93=)
c.2394C>A (p.Gly798=)
 gnomAD v2
2g.26477473_26477474delinsGCCA1239830155OTOFc.2348_2349delinsGC (p.Gly783=)
c.107_108delinsGC (p.Gly36=)
c.278_279delinsGC (p.Gly93=)
c.2393_2394delinsGC (p.Gly798=)
2g.26477474C>ACA346123347OTOFc.2348G>T (p.Gly783Val)
c.107G>T (p.Gly36Val)
c.278G>T (p.Gly93Val)
c.2393G>T (p.Gly798Val)
2g.26477474C>GCA346123349OTOFc.2348G>C (p.Gly783Ala)
c.107G>C (p.Gly36Ala)
c.278G>C (p.Gly93Ala)
c.2393G>C (p.Gly798Ala)
2g.26477474C>TCA346123351OTOFc.2348G>A (p.Gly783Asp)
c.107G>A (p.Gly36Asp)
c.278G>A (p.Gly93Asp)
c.2393G>A (p.Gly798Asp)
 gnomAD v4
2g.26477476delCA342565OTOFc.2348del (p.Gly783AlafsTer17)
c.107del (p.Gly36AlafsTer17)
c.278del (p.Gly93AlafsTer17)
c.2393del (p.Gly798AlafsTer17)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477475C>ACA346123352OTOFc.2347G>T (p.Gly783Cys)
c.106G>T (p.Gly36Cys)
c.277G>T (p.Gly93Cys)
c.2392G>T (p.Gly798Cys)
2g.26477475C>GCA346123353OTOFc.2347G>C (p.Gly783Arg)
c.106G>C (p.Gly36Arg)
c.277G>C (p.Gly93Arg)
c.2392G>C (p.Gly798Arg)
 gnomAD v4
2g.26477475C>TCA346123354OTOFc.2347G>A (p.Gly783Ser)
c.106G>A (p.Gly36Ser)
c.277G>A (p.Gly93Ser)
c.2392G>A (p.Gly798Ser)
2g.26477476C>ACA346123355OTOFc.2346G>T (p.Gln782His)
c.105G>T (p.Gln35His)
c.276G>T (p.Gln92His)
c.2391G>T (p.Gln797His)
2g.26477476C=CA1239830164OTOFc.2346G= (p.Gln782=)
c.105G= (p.Gln35=)
c.276G= (p.Gln92=)
c.2391G= (p.Gln797=)
2g.26477476C>GCA346123357OTOFc.2346G>C (p.Gln782His)
c.105G>C (p.Gln35His)
c.276G>C (p.Gln92His)
c.2391G>C (p.Gln797His)
2g.26477476C>TCA425360019OTOFc.2346G>A (p.Gln782=)
c.105G>A (p.Gln35=)
c.276G>A (p.Gln92=)
c.2391G>A (p.Gln797=)
 dbSNP gnomAD v2 gnomAD v4
2g.26477477T>ACA346123358OTOFc.2345A>T (p.Gln782Leu)
c.104A>T (p.Gln35Leu)
c.275A>T (p.Gln92Leu)
c.2390A>T (p.Gln797Leu)
2g.26477477T>CCA346123359OTOFc.2345A>G (p.Gln782Arg)
c.104A>G (p.Gln35Arg)
c.275A>G (p.Gln92Arg)
c.2390A>G (p.Gln797Arg)
 dbSNP gnomAD v4
2g.26477477T>GCA346123360OTOFc.2345A>C (p.Gln782Pro)
c.104A>C (p.Gln35Pro)
c.275A>C (p.Gln92Pro)
c.2390A>C (p.Gln797Pro)
2g.26477477T=CA1239830166OTOFc.2345A= (p.Gln782=)
c.104A= (p.Gln35=)
c.275A= (p.Gln92=)
c.2390A= (p.Gln797=)
2g.26477478G>ACA346123361OTOFc.2344C>T (p.Gln782Ter)
c.103C>T (p.Gln35Ter)
c.274C>T (p.Gln92Ter)
c.2389C>T (p.Gln797Ter)
2g.26477478G>CCA346123362OTOFc.2344C>G (p.Gln782Glu)
c.103C>G (p.Gln35Glu)
c.274C>G (p.Gln92Glu)
c.2389C>G (p.Gln797Glu)
2g.26477478G>TCA346123363OTOFc.2344C>A (p.Gln782Lys)
c.103C>A (p.Gln35Lys)
c.274C>A (p.Gln92Lys)
c.2389C>A (p.Gln797Lys)
 gnomAD v4
2g.26477479G>ACA425360028OTOFc.2343C>T (p.Asp781=)
c.102C>T (p.Asp34=)
c.273C>T (p.Asp91=)
c.2388C>T (p.Asp796=)
 gnomAD v4
2g.26477479G>CCA346123364OTOFc.2343C>G (p.Asp781Glu)
c.102C>G (p.Asp34Glu)
c.273C>G (p.Asp91Glu)
c.2388C>G (p.Asp796Glu)
2g.26477479G>TCA346123365OTOFc.2343C>A (p.Asp781Glu)
c.102C>A (p.Asp34Glu)
c.273C>A (p.Asp91Glu)
c.2388C>A (p.Asp796Glu)
2g.26477480T>ACA346123366OTOFc.2342A>T (p.Asp781Val)
c.101A>T (p.Asp34Val)
c.272A>T (p.Asp91Val)
c.2387A>T (p.Asp796Val)
2g.26477480T>CCA346123367OTOFc.2342A>G (p.Asp781Gly)
c.101A>G (p.Asp34Gly)
c.272A>G (p.Asp91Gly)
c.2387A>G (p.Asp796Gly)
2g.26477480T>GCA346123368OTOFc.2342A>C (p.Asp781Ala)
c.101A>C (p.Asp34Ala)
c.272A>C (p.Asp91Ala)
c.2387A>C (p.Asp796Ala)
2g.26477481C>ACA346123370OTOFc.2341G>T (p.Asp781Tyr)
c.100G>T (p.Asp34Tyr)
c.271G>T (p.Asp91Tyr)
c.2386G>T (p.Asp796Tyr)
 gnomAD v4
2g.26477481C=CA1239830169OTOFc.2341G= (p.Asp781=)
c.100G= (p.Asp34=)
c.271G= (p.Asp91=)
c.2386G= (p.Asp796=)
2g.26477481C>GCA346123369OTOFc.2341G>C (p.Asp781His)
c.100G>C (p.Asp34His)
c.271G>C (p.Asp91His)
c.2386G>C (p.Asp796His)
2g.26477481C>TCA44398525OTOFc.2341G>A (p.Asp781Asn)
c.100G>A (p.Asp34Asn)
c.271G>A (p.Asp91Asn)
c.2386G>A (p.Asp796Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.26477482dupCA2838617201OTOFc.2341dup (p.Asp781GlyfsTer11)
c.100dup (p.Asp34GlyfsTer11)
c.271dup (p.Asp91GlyfsTer11)
c.2386dup (p.Asp796GlyfsTer11)
2g.26477481_26477482insACA2564494559OTOFc.2340_2341insT (p.Asp781Ter)
c.99_100insT (p.Asp34Ter)
c.270_271insT (p.Asp91Ter)
c.2385_2386insT (p.Asp796Ter)
2g.26477482C>ACA346123371OTOFc.2340G>T (p.Lys780Asn)
c.99G>T (p.Lys33Asn)
c.270G>T (p.Lys90Asn)
c.2385G>T (p.Lys795Asn)
 gnomAD v4
2g.26477482C=CA1239830171OTOFc.2340G= (p.Lys780=)
c.99G= (p.Lys33=)
c.270G= (p.Lys90=)
c.2385G= (p.Lys795=)
2g.26477482C>GCA346123372OTOFc.2340G>C (p.Lys780Asn)
c.99G>C (p.Lys33Asn)
c.270G>C (p.Lys90Asn)
c.2385G>C (p.Lys795Asn)
2g.26477482C>TCA425360030OTOFc.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
2g.26477483T>ACA346123373OTOFc.2339A>T (p.Lys780Met)
c.98A>T (p.Lys33Met)
c.269A>T (p.Lys90Met)
c.2384A>T (p.Lys795Met)
 gnomAD v4
2g.26477483T>CCA346123374OTOFc.2339A>G (p.Lys780Arg)
c.98A>G (p.Lys33Arg)
c.269A>G (p.Lys90Arg)
c.2384A>G (p.Lys795Arg)
2g.26477483T>GCA346123375OTOFc.2339A>C (p.Lys780Thr)
c.98A>C (p.Lys33Thr)
c.269A>C (p.Lys90Thr)
c.2384A>C (p.Lys795Thr)
2g.26477484_26477486delCA2531158118OTOFc.2337_2339del (p.Asp779_Lys780delinsGlu)
c.96_98del (p.Asp32_Lys33delinsGlu)
c.267_269del (p.Asp89_Lys90delinsGlu)
c.2382_2384del (p.Asp794_Lys795delinsGlu)
2g.26477484T>ACA346123376OTOFc.2338A>T (p.Lys780Ter)
c.97A>T (p.Lys33Ter)
c.268A>T (p.Lys90Ter)
c.2383A>T (p.Lys795Ter)
2g.26477484T>CCA346123377OTOFc.2338A>G (p.Lys780Glu)
c.97A>G (p.Lys33Glu)
c.268A>G (p.Lys90Glu)
c.2383A>G (p.Lys795Glu)
 gnomAD v4
2g.26477484T>GCA346123378OTOFc.2338A>C (p.Lys780Gln)
c.97A>C (p.Lys33Gln)
c.268A>C (p.Lys90Gln)
c.2383A>C (p.Lys795Gln)
2g.26477485_26477486delCA2576699508OTOFc.2337_2338del (p.Asp779GlufsTer12)
c.96_97del (p.Asp32GlufsTer12)
c.267_268del (p.Asp89GlufsTer12)
c.2382_2383del (p.Asp794GlufsTer12)
2g.26477485G>ACA425360035OTOFc.2337C>T (p.Asp779=)
c.96C>T (p.Asp32=)
c.267C>T (p.Asp89=)
c.2382C>T (p.Asp794=)
2g.26477485G>CCA346123379OTOFc.2337C>G (p.Asp779Glu)
c.96C>G (p.Asp32Glu)
c.267C>G (p.Asp89Glu)
c.2382C>G (p.Asp794Glu)
2g.26477485G>TCA346123380OTOFc.2337C>A (p.Asp779Glu)
c.96C>A (p.Asp32Glu)
c.267C>A (p.Asp89Glu)
c.2382C>A (p.Asp794Glu)
 gnomAD v4
2g.26477486T>ACA346123381OTOFc.2336A>T (p.Asp779Val)
c.95A>T (p.Asp32Val)
c.266A>T (p.Asp89Val)
c.2381A>T (p.Asp794Val)
 dbSNP gnomAD v4
2g.26477486T>CCA346123382OTOFc.2336A>G (p.Asp779Gly)
c.95A>G (p.Asp32Gly)
c.266A>G (p.Asp89Gly)
c.2381A>G (p.Asp794Gly)
 gnomAD v4
2g.26477486T>GCA346123383OTOFc.2336A>C (p.Asp779Ala)
c.95A>C (p.Asp32Ala)
c.266A>C (p.Asp89Ala)
c.2381A>C (p.Asp794Ala)
2g.26477486T=CA1239830174OTOFc.2336A= (p.Asp779=)
c.95A= (p.Asp32=)
c.266A= (p.Asp89=)
c.2381A= (p.Asp794=)
2g.26477487C>ACA346123385OTOFc.2335G>T (p.Asp779Tyr)
c.94G>T (p.Asp32Tyr)
c.265G>T (p.Asp89Tyr)
c.2380G>T (p.Asp794Tyr)
 gnomAD v4
2g.26477487C>GCA346123386OTOFc.2335G>C (p.Asp779His)
c.94G>C (p.Asp32His)
c.265G>C (p.Asp89His)
c.2380G>C (p.Asp794His)
2g.26477487C>TCA346123384OTOFc.2335G>A (p.Asp779Asn)
c.94G>A (p.Asp32Asn)
c.265G>A (p.Asp89Asn)
c.2380G>A (p.Asp794Asn)
 gnomAD v4
2g.26477488A>CCA425360038OTOFc.2334T>G (p.Ala778=)
c.93T>G (p.Ala31=)
c.264T>G (p.Ala88=)
c.2379T>G (p.Ala793=)
2g.26477488A>GCA425360040OTOFc.2334T>C (p.Ala778=)
c.93T>C (p.Ala31=)
c.264T>C (p.Ala88=)
c.2379T>C (p.Ala793=)
 gnomAD v4
2g.26477488A>TCA425360039OTOFc.2334T>A (p.Ala778=)
c.93T>A (p.Ala31=)
c.264T>A (p.Ala88=)
c.2379T>A (p.Ala793=)
 gnomAD v4
2g.26477489_26477501delCA2576699509OTOFc.2322_2334del (p.Phe774LeufsTer22)
c.81_93del (p.Phe27LeufsTer22)
c.252_264del (p.Phe84LeufsTer22)
c.2367_2379del (p.Phe789LeufsTer22)
2g.26477489G>ACA346123387OTOFc.2333C>T (p.Ala778Val)
c.92C>T (p.Ala31Val)
c.263C>T (p.Ala88Val)
c.2378C>T (p.Ala793Val)
2g.26477489G>CCA346123388OTOFc.2333C>G (p.Ala778Gly)
c.92C>G (p.Ala31Gly)
c.263C>G (p.Ala88Gly)
c.2378C>G (p.Ala793Gly)
2g.26477489G=CA1239830177OTOFc.2333C= (p.Ala778=)
c.92C= (p.Ala31=)
c.263C= (p.Ala88=)
c.2378C= (p.Ala793=)
2g.26477489G>TCA346123389OTOFc.2333C>A (p.Ala778Asp)
c.92C>A (p.Ala31Asp)
c.263C>A (p.Ala88Asp)
c.2378C>A (p.Ala793Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.26477490C>ACA1563945OTOFc.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
2g.26477490C=CA1239830186OTOFc.2332G= (p.Ala778=)
c.91G= (p.Ala31=)
c.262G= (p.Ala88=)
c.2377G= (p.Ala793=)
2g.26477490C>GCA346123390OTOFc.2332G>C (p.Ala778Pro)
c.91G>C (p.Ala31Pro)
c.262G>C (p.Ala88Pro)
c.2377G>C (p.Ala793Pro)
 gnomAD v4
2g.26477490C>TCA1563946OTOFc.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
2g.26477491G>ACA1563947OTOFc.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
2g.26477491G>CCA425360045OTOFc.2331C>G (p.Leu777=)
c.90C>G (p.Leu30=)
c.261C>G (p.Leu87=)
c.2376C>G (p.Leu792=)
 dbSNP
2g.26477491G=CA1239830188OTOFc.2331C= (p.Leu777=)
c.90C= (p.Leu30=)
c.261C= (p.Leu87=)
c.2376C= (p.Leu792=)
2g.26477491G>TCA425360046OTOFc.2331C>A (p.Leu777=)
c.90C>A (p.Leu30=)
c.261C>A (p.Leu87=)
c.2376C>A (p.Leu792=)
 gnomAD v4
2g.26477491_26477500delCA2540778575OTOFc.2322_2331del (p.Phe774LeufsTer23)
c.81_90del (p.Phe27LeufsTer23)
c.252_261del (p.Phe84LeufsTer23)
c.2367_2376del (p.Phe789LeufsTer23)
2g.26477492A>CCA346123391OTOFc.2330T>G (p.Leu777Arg)
c.89T>G (p.Leu30Arg)
c.260T>G (p.Leu87Arg)
c.2375T>G (p.Leu792Arg)
2g.26477492A>GCA346123392OTOFc.2330T>C (p.Leu777Pro)
c.89T>C (p.Leu30Pro)
c.260T>C (p.Leu87Pro)
c.2375T>C (p.Leu792Pro)
 gnomAD v4
2g.26477492A>TCA346123393OTOFc.2330T>A (p.Leu777His)
c.89T>A (p.Leu30His)
c.260T>A (p.Leu87His)
c.2375T>A (p.Leu792His)
2g.26477493G>ACA346123394OTOFc.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
2g.26477493G>CCA346123395OTOFc.2329C>G (p.Leu777Val)
c.88C>G (p.Leu30Val)
c.259C>G (p.Leu87Val)
c.2374C>G (p.Leu792Val)
 COSMIC COSMIC COSMIC
2g.26477493G=CA1239830191OTOFc.2329C= (p.Leu777=)
c.88C= (p.Leu30=)
c.259C= (p.Leu87=)
c.2374C= (p.Leu792=)
2g.26477493G>TCA346123396OTOFc.2329C>A (p.Leu777Ile)
c.88C>A (p.Leu30Ile)
c.259C>A (p.Leu87Ile)
c.2374C>A (p.Leu792Ile)
 gnomAD v4
2g.26477494G>ACA425360049OTOFc.2328C>T (p.Ser776=)
c.87C>T (p.Ser29=)
c.258C>T (p.Ser86=)
c.2373C>T (p.Ser791=)
2g.26477494G>CCA425360051OTOFc.2328C>G (p.Ser776=)
c.87C>G (p.Ser29=)
c.258C>G (p.Ser86=)
c.2373C>G (p.Ser791=)
2g.26477494G>TCA425360053OTOFc.2328C>A (p.Ser776=)
c.87C>A (p.Ser29=)
c.258C>A (p.Ser86=)
c.2373C>A (p.Ser791=)
2g.26477495G>ACA346123399OTOFc.2327C>T (p.Ser776Phe)
c.86C>T (p.Ser29Phe)
c.257C>T (p.Ser86Phe)
c.2372C>T (p.Ser791Phe)
 gnomAD v4
2g.26477495G>CCA346123398OTOFc.2327C>G (p.Ser776Cys)
c.86C>G (p.Ser29Cys)
c.257C>G (p.Ser86Cys)
c.2372C>G (p.Ser791Cys)
2g.26477495G>TCA346123397OTOFc.2327C>A (p.Ser776Tyr)
c.86C>A (p.Ser29Tyr)
c.257C>A (p.Ser86Tyr)
c.2372C>A (p.Ser791Tyr)
 gnomAD v4
2g.26477496A=CA1239830193OTOFc.2326T= (p.Ser776=)
c.85T= (p.Ser29=)
c.256T= (p.Ser86=)
c.2371T= (p.Ser791=)
2g.26477496A>CCA1563948OTOFc.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
2g.26477496A>GCA346123400OTOFc.2326T>C (p.Ser776Pro)
c.85T>C (p.Ser29Pro)
c.256T>C (p.Ser86Pro)
c.2371T>C (p.Ser791Pro)
 dbSNP gnomAD v2
2g.26477496A>TCA346123401OTOFc.2326T>A (p.Ser776Thr)
c.85T>A (p.Ser29Thr)
c.256T>A (p.Ser86Thr)
c.2371T>A (p.Ser791Thr)
2g.26477497G>ACA425360056OTOFc.2325C>T (p.Leu775=)
c.84C>T (p.Leu28=)
c.255C>T (p.Leu85=)
c.2370C>T (p.Leu790=)
2g.26477497G>CCA425360058OTOFc.2325C>G (p.Leu775=)
c.84C>G (p.Leu28=)
c.255C>G (p.Leu85=)
c.2370C>G (p.Leu790=)
2g.26477497G>TCA425360059OTOFc.2325C>A (p.Leu775=)
c.84C>A (p.Leu28=)
c.255C>A (p.Leu85=)
c.2370C>A (p.Leu790=)
2g.26477498A>CCA346123402OTOFc.2324T>G (p.Leu775Arg)
c.83T>G (p.Leu28Arg)
c.254T>G (p.Leu85Arg)
c.2369T>G (p.Leu790Arg)
2g.26477498A>GCA346123403OTOFc.2324T>C (p.Leu775Pro)
c.83T>C (p.Leu28Pro)
c.254T>C (p.Leu85Pro)
c.2369T>C (p.Leu790Pro)
 gnomAD v4
2g.26477498A>TCA346123404OTOFc.2324T>A (p.Leu775His)
c.83T>A (p.Leu28His)
c.254T>A (p.Leu85His)
c.2369T>A (p.Leu790His)
2g.26477499G>ACA346123405OTOFc.2323C>T (p.Leu775Phe)
c.82C>T (p.Leu28Phe)
c.253C>T (p.Leu85Phe)
c.2368C>T (p.Leu790Phe)
 dbSNP gnomAD v4
2g.26477499G>CCA346123406OTOFc.2323C>G (p.Leu775Val)
c.82C>G (p.Leu28Val)
c.253C>G (p.Leu85Val)
c.2368C>G (p.Leu790Val)
2g.26477499G=CA1239830196OTOFc.2323C= (p.Leu775=)
c.82C= (p.Leu28=)
c.253C= (p.Leu85=)
c.2368C= (p.Leu790=)
2g.26477499G>TCA346123407OTOFc.2323C>A (p.Leu775Ile)
c.82C>A (p.Leu28Ile)
c.253C>A (p.Leu85Ile)
c.2368C>A (p.Leu790Ile)
2g.26477500G>ACA425360064OTOFc.2322C>T (p.Phe774=)
c.81C>T (p.Phe27=)
c.252C>T (p.Phe84=)
c.2367C>T (p.Phe789=)
2g.26477500G>CCA346123408OTOFc.2322C>G (p.Phe774Leu)
c.81C>G (p.Phe27Leu)
c.252C>G (p.Phe84Leu)
c.2367C>G (p.Phe789Leu)
2g.26477500G>TCA346123409OTOFc.2322C>A (p.Phe774Leu)
c.81C>A (p.Phe27Leu)
c.252C>A (p.Phe84Leu)
c.2367C>A (p.Phe789Leu)
 gnomAD v4
2g.26477501A>CCA346123410OTOFc.2321T>G (p.Phe774Cys)
c.80T>G (p.Phe27Cys)
c.251T>G (p.Phe84Cys)
c.2366T>G (p.Phe789Cys)
2g.26477501A>GCA346123411OTOFc.2321T>C (p.Phe774Ser)
c.80T>C (p.Phe27Ser)
c.251T>C (p.Phe84Ser)
c.2366T>C (p.Phe789Ser)
2g.26477501A>TCA346123412OTOFc.2321T>A (p.Phe774Tyr)
c.80T>A (p.Phe27Tyr)
c.251T>A (p.Phe84Tyr)
c.2366T>A (p.Phe789Tyr)
2g.26477502A=CA1239830198OTOFc.2320T= (p.Phe774=)
c.79T= (p.Phe27=)
c.250T= (p.Phe84=)
c.2365T= (p.Phe789=)
2g.26477502A>CCA346123414OTOFc.2320T>G (p.Phe774Val)
c.79T>G (p.Phe27Val)
c.250T>G (p.Phe84Val)
c.2365T>G (p.Phe789Val)
2g.26477502A>GCA346123415OTOFc.2320T>C (p.Phe774Leu)
c.79T>C (p.Phe27Leu)
c.250T>C (p.Phe84Leu)
c.2365T>C (p.Phe789Leu)
2g.26477502A>TCA346123413OTOFc.2320T>A (p.Phe774Ile)
c.79T>A (p.Phe27Ile)
c.250T>A (p.Phe84Ile)
c.2365T>A (p.Phe789Ile)
 dbSNP gnomAD v4
2g.26477503G>ACA425360070OTOFc.2319C>T (p.Arg773=)
c.78C>T (p.Arg26=)
c.249C>T (p.Arg83=)
c.2364C>T (p.Arg788=)
2g.26477503G>CCA425360073OTOFc.2319C>G (p.Arg773=)
c.78C>G (p.Arg26=)
c.249C>G (p.Arg83=)
c.2364C>G (p.Arg788=)
2g.26477503G>TCA425360071OTOFc.2319C>A (p.Arg773=)
c.78C>A (p.Arg26=)
c.249C>A (p.Arg83=)
c.2364C>A (p.Arg788=)
2g.26477504C>ACA346123416OTOFc.2318G>T (p.Arg773Leu)
c.77G>T (p.Arg26Leu)
c.248G>T (p.Arg83Leu)
c.2363G>T (p.Arg788Leu)
 dbSNP gnomAD v4
2g.26477504C=CA1239830201OTOFc.2318G= (p.Arg773=)
c.77G= (p.Arg26=)
c.248G= (p.Arg83=)
c.2363G= (p.Arg788=)
2g.26477504C>GCA346123417OTOFc.2318G>C (p.Arg773Pro)
c.77G>C (p.Arg26Pro)
c.248G>C (p.Arg83Pro)
c.2363G>C (p.Arg788Pro)
2g.26477504C>TCA1563949OTOFc.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
2g.26477505G>ACA142793OTOFc.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
2g.26477505G>CCA346123418OTOFc.2317C>G (p.Arg773Gly)
c.76C>G (p.Arg26Gly)
c.247C>G (p.Arg83Gly)
c.2362C>G (p.Arg788Gly)
2g.26477505G=CA1239830207OTOFc.2317C= (p.Arg773=)
c.76C= (p.Arg26=)
c.247C= (p.Arg83=)
c.2362C= (p.Arg788=)
2g.26477505G>TCA346123419OTOFc.2317C>A (p.Arg773Ser)
c.76C>A (p.Arg26Ser)
c.247C>A (p.Arg83Ser)
c.2362C>A (p.Arg788Ser)
 gnomAD v4
2g.26477505_26477513dupCA2576699510OTOFc.2316-7_2317dup
c.75-7_76dup
c.246-7_247dup
c.2361-7_2362dup
2g.26477506G>ACA425360078OTOFc.2316C>T (p.Cys772=)
c.75C>T (p.Cys25=)
c.246C>T (p.Cys82=)
c.2361C>T (p.Cys787=)
 gnomAD v4
2g.26477506G>CCA346123420OTOFc.2316C>G (p.Cys772Trp)
c.75C>G (p.Cys25Trp)
c.246C>G (p.Cys82Trp)
c.2361C>G (p.Cys787Trp)
2g.26477506G=CA1239830212OTOFc.2316C= (p.Cys772=)
c.75C= (p.Cys25=)
c.246C= (p.Cys82=)
c.2361C= (p.Cys787=)
2g.26477506G>TCA345104OTOFc.2316C>A (p.Cys772Ter)
c.75C>A (p.Cys25Ter)
c.246C>A (p.Cys82Ter)
c.2361C>A (p.Cys787Ter)
 ClinVar dbSNP gnomAD v4
2g.26477508_26477523dupCA2586968838OTOFc.2316-15_2316dup
c.75-15_75dup
c.246-15_246dup
c.2361-15_2361dup
2g.26477507C>ACA346123421OTOFc.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
2g.26477507C=CA1239830217OTOFc.2316-1G= (n.2316-1G=)
c.75-1G= (n.75-1G=)
c.246-1G= (n.246-1G=)
c.2361-1G= (n.2361-1G=)
2g.26477507C>GCA346123422OTOFc.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)
2g.26477507C>TCA346123423OTOFc.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
2g.26477508T>ACA346123424OTOFc.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)
2g.26477508T>CCA346123425OTOFc.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)
2g.26477508T>GCA346123426OTOFc.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
2g.26477508T=CA1239830222OTOFc.2316-2A= (n.2316-2A=)
c.75-2A= (n.75-2A=)
c.246-2A= (n.246-2A=)
c.2361-2A= (n.2361-2A=)
2g.26477508dupCA531761894OTOFc.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
2g.26477509G>ACA1239830227OTOFc.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
2g.26477509G>CCA2658238115OTOFc.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
2g.26477509G=CA1239830225OTOFc.2316-3C= (n.2316-3C=)
c.75-3C= (n.75-3C=)
c.246-3C= (n.246-3C=)
c.2361-3C= (n.2361-3C=)
2g.26477513dupCA2842281667OTOFc.2316-3dup (n.2316-3dup)
c.75-3dup (n.75-3dup)
c.246-3dup (n.246-3dup)
c.2361-3dup (n.2361-3dup)
2g.26477513delCA2576699511OTOFc.2316-3del (n.2316-3del)
c.75-3del (n.75-3del)
c.246-3del (n.246-3del)
c.2361-3del (n.2361-3del)
2g.26477510G>ACA44398549OTOFc.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
2g.26477510G>CCA2658238123OTOFc.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
2g.26477510G=CA1239830232OTOFc.2316-4C= (n.2316-4C=)
c.75-4C= (n.75-4C=)
c.246-4C= (n.246-4C=)
c.2361-4C= (n.2361-4C=)
2g.26477510G>TCA177554OTOFc.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
2g.26477511G>ACA1028608372OTOFc.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
2g.26477511G=CA1239830234OTOFc.2316-5C= (n.2316-5C=)
c.75-5C= (n.75-5C=)
c.246-5C= (n.246-5C=)
c.2361-5C= (n.2361-5C=)
2g.26477511G>TCA1563950OTOFc.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
2g.26477512G>ACA44398555OTOFc.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
2g.26477512G=CA1239830238OTOFc.2316-6C= (n.2316-6C=)
c.75-6C= (n.75-6C=)
c.246-6C= (n.246-6C=)
c.2361-6C= (n.2361-6C=)
2g.26477512G>TCA1028608387OTOFc.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
2g.26477513G>ACA2576699512OTOFc.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
2g.26477514T>CCA531761895OTOFc.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
2g.26477514T>GCA1239830243OTOFc.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
2g.26477514T=CA1239830242OTOFc.2316-8A= (n.2316-8A=)
c.75-8A= (n.75-8A=)
c.246-8A= (n.246-8A=)
c.2361-8A= (n.2361-8A=)
2g.26477515A=CA1239830245OTOFc.2316-9T= (n.2316-9T=)
c.75-9T= (n.75-9T=)
c.246-9T= (n.246-9T=)
c.2361-9T= (n.2361-9T=)
2g.26477515A>GCA531761896OTOFc.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
2g.26477516G>CCA2658238135OTOFc.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
2g.26477516G>TCA2658238136OTOFc.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
2g.26477517G>ACA531761897OTOFc.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
2g.26477517G=CA1239830247OTOFc.2316-11C= (n.2316-11C=)
c.75-11C= (n.75-11C=)
c.246-11C= (n.246-11C=)
c.2361-11C= (n.2361-11C=)
2g.26477518G>ACA2658238138OTOFc.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
2g.26477518G=CA1239830248OTOFc.2316-12C= (n.2316-12C=)
c.75-12C= (n.75-12C=)
c.246-12C= (n.246-12C=)
c.2361-12C= (n.2361-12C=)
2g.26477518G>TCA531761898OTOFc.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
2g.26477519C=CA1239830250OTOFc.2316-13G= (n.2316-13G=)
c.75-13G= (n.75-13G=)
c.246-13G= (n.246-13G=)
c.2361-13G= (n.2361-13G=)
2g.26477519C>GCA1239830251OTOFc.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
2g.26477519C>TCA1563951OTOFc.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
2g.26477520G>ACA1563952OTOFc.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
2g.26477520G>CCA531761899OTOFc.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
2g.26477520G=CA1239830253OTOFc.2316-14C= (n.2316-14C=)
c.75-14C= (n.75-14C=)
c.246-14C= (n.246-14C=)
c.2361-14C= (n.2361-14C=)
2g.26477520G>TCA2658238144OTOFc.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
2g.26477521A=CA1239830254OTOFc.2316-15T= (n.2316-15T=)
c.75-15T= (n.75-15T=)
c.246-15T= (n.246-15T=)
c.2361-15T= (n.2361-15T=)
2g.26477521A>GCA1239830256OTOFc.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
2g.26477521A>TCA44398559OTOFc.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
2g.26477522G>ACA531761900OTOFc.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
2g.26477522G=CA1239830259OTOFc.2316-16C= (n.2316-16C=)
c.75-16C= (n.75-16C=)
c.246-16C= (n.246-16C=)
c.2361-16C= (n.2361-16C=)
2g.26477522G>TCA2658238146OTOFc.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
2g.26477522_26477523delinsGCCA1239830260OTOFc.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)
2g.26477523C>ACA1239830266OTOFc.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
2g.26477523C=CA1239830264OTOFc.2316-17G= (n.2316-17G=)
c.75-17G= (n.75-17G=)
c.246-17G= (n.246-17G=)
c.2361-17G= (n.2361-17G=)
2g.26477523C>TCA2658238150OTOFc.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
2g.26477524delCA531761901OTOFc.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

Number of alleles fetched