Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26518992T>ACA2749241674OTOFc.327+18A>T (n.327+18A>T)
2g.26518992T>GCA1239847708OTOFc.327+18A>C (n.327+18A>C)
dbSNP
2g.26518992T=CA1239847707OTOFc.327+18A= (n.327+18A=)
2g.26518993C=CA1239847709OTOFc.327+17G= (n.327+17G=)
2g.26518993C>TCA1564714OTOFc.327+17G>A (n.327+17G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26518994C>ACA2658241336OTOFc.327+16G>T (n.327+16G>T)
gnomAD v4
2g.26518994C=CA1239847710OTOFc.327+16G= (n.327+16G=)
2g.26518994C>TCA1564715OTOFc.327+16G>A (n.327+16G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26518995G>ACA1564716OTOFc.327+15C>T (n.327+15C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26518995G=CA1239847711OTOFc.327+15C= (n.327+15C=)
2g.26518995G>TCA2658241337OTOFc.327+15C>A (n.327+15C>A)
gnomAD v4
2g.26518996T>CCA2658241338OTOFc.327+14A>G (n.327+14A>G)
gnomAD v4
2g.26518996T=CA1239847712OTOFc.327+14A= (n.327+14A=)
2g.26518997G>TCA2658241340OTOFc.327+13C>A (n.327+13C>A)
gnomAD v4
2g.26519000dupCA44437200OTOFc.327+13dup (n.327+13dup)
dbSNP gnomAD v3 gnomAD v4
2g.26519000delCA2658241339OTOFc.327+13del (n.327+13del)
gnomAD v4
2g.26518998G>ACA2658241342OTOFc.327+12C>T (n.327+12C>T)
gnomAD v4
2g.26518998G>CCA531401006OTOFc.327+12C>G (n.327+12C>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26518998G=CA1239847713OTOFc.327+12C= (n.327+12C=)
2g.26518998G>TCA2658241341OTOFc.327+12C>A (n.327+12C>A)
gnomAD v4
2g.26518999G>ACA2658241343OTOFc.327+11C>T (n.327+11C>T)
gnomAD v4
2g.26518999G>CCA767283965OTOFc.327+11C>G (n.327+11C>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26518999G=CA1239847714OTOFc.327+11C= (n.327+11C=)
2g.26518999G>TCA2658241344OTOFc.327+11C>A (n.327+11C>A)
gnomAD v4
2g.26519000G>ACA2658241345OTOFc.327+10C>T (n.327+10C>T)
gnomAD v4
2g.26519000G=CA1239847715OTOFc.327+10C= (n.327+10C=)
2g.26519000G>TCA1564717OTOFc.327+10C>A (n.327+10C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519001C=CA1239847716OTOFc.327+9G= (n.327+9G=)
2g.26519001C>TCA1564718OTOFc.327+9G>A (n.327+9G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26519003T>CCA531401007OTOFc.327+7A>G (n.327+7A>G)
dbSNP gnomAD v2 gnomAD v4
2g.26519003T=CA1239847717OTOFc.327+7A= (n.327+7A=)
2g.26519005C>ACA1564719OTOFc.327+5G>T (n.327+5G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519005C=CA1239847718OTOFc.327+5G= (n.327+5G=)
2g.26519005C>TCA2658241346OTOFc.327+5G>A (n.327+5G>A)
gnomAD v4
2g.26519006C=CA1239847719OTOFc.327+4G= (n.327+4G=)
2g.26519006C>TCA1564720OTOFc.327+4G>A (n.327+4G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519007C=CA1239847720OTOFc.327+3G= (n.327+3G=)
2g.26519007C>GCA10576594OTOFc.327+3G>C (n.327+3G>C)
ClinVar dbSNP
2g.26519007C>TCA645529729OTOFc.327+3G>A (n.327+3G>A)
COSMIC
2g.26519008A=CA1239847721OTOFc.327+2T= (n.327+2T=)
2g.26519008A>CCA1564721OTOFc.327+2T>G (n.327+2T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519008A>GCA346139602OTOFc.327+2T>C (n.327+2T>C)
2g.26519008A>TCA346139603OTOFc.327+2T>A (n.327+2T>A)
2g.26519009C>ACA346139604OTOFc.327+1G>T (n.327+1G>T)
2g.26519009C=CA1239847722OTOFc.327+1G= (n.327+1G=)
2g.26519009C>GCA346139605OTOFc.327+1G>C (n.327+1G>C)
2g.26519009C>TCA346139606OTOFc.327+1G>A (n.327+1G>A)
dbSNP gnomAD v4
2g.26519010C>ACA346139607OTOFc.327G>T (p.Lys109Asn)
gnomAD v4
2g.26519010C=CA1239847723OTOFc.327G= (p.Lys109=)
2g.26519010C>GCA346139608OTOFc.327G>C (p.Lys109Asn)
2g.26519010C>TCA425209359OTOFc.327G>A (p.Lys109=)
dbSNP
2g.26519011T>ACA1564722OTOFc.326A>T (p.Lys109Met)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26519011T>CCA346139610OTOFc.326A>G (p.Lys109Arg)
2g.26519011T>GCA346139609OTOFc.326A>C (p.Lys109Thr)
2g.26519011T=CA1239847724OTOFc.326A= (p.Lys109=)
2g.26519012T>ACA346139611OTOFc.325A>T (p.Lys109Ter)
2g.26519012T>CCA346139613OTOFc.325A>G (p.Lys109Glu)
2g.26519012T>GCA346139612OTOFc.325A>C (p.Lys109Gln)
2g.26519016_26519018delCA2749241675OTOFc.323_325del (p.Ile108del)
2g.26519013G>ACA425209360OTOFc.324C>T (p.Ile108=)
2g.26519013G>CCA346139614OTOFc.324C>G (p.Ile108Met)
2g.26519013G>TCA425209361OTOFc.324C>A (p.Ile108=)
gnomAD v4
2g.26519014A>CCA346139616OTOFc.323T>G (p.Ile108Ser)
2g.26519014A>GCA346139615OTOFc.323T>C (p.Ile108Thr)
2g.26519014A>TCA346139617OTOFc.323T>A (p.Ile108Asn)
2g.26519015T>ACA44437239OTOFc.322A>T (p.Ile108Phe)
dbSNP
2g.26519015T>CCA185331OTOFc.322A>G (p.Ile108Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519015T>GCA346139618OTOFc.322A>C (p.Ile108Leu)
gnomAD v4
2g.26519015T=CA1239847725OTOFc.322A= (p.Ile108=)
2g.26519016G>ACA425209362OTOFc.321C>T (p.Ile107=)
2g.26519016G>CCA346139619OTOFc.321C>G (p.Ile107Met)
2g.26519016G>TCA425209363OTOFc.321C>A (p.Ile107=)
gnomAD v4
2g.26519016_26519021delinsGATAGCCA1239847726OTOFc.316_321delinsGCTATC (p.Ala106=)
2g.26519017A>CCA346139620OTOFc.320T>G (p.Ile107Ser)
2g.26519017A>GCA346139621OTOFc.320T>C (p.Ile107Thr)
gnomAD v4
2g.26519017A>TCA346139622OTOFc.320T>A (p.Ile107Asn)
2g.26519019_26519023delCA767283998OTOFc.316_320del (p.Ala106HisfsTer15)
dbSNP gnomAD v3 gnomAD v4
2g.26519018T>ACA346139623OTOFc.319A>T (p.Ile107Phe)
2g.26519018T>CCA346139624OTOFc.319A>G (p.Ile107Val)
dbSNP gnomAD v3 gnomAD v4
2g.26519018T>GCA346139625OTOFc.319A>C (p.Ile107Leu)
2g.26519018T=CA1239847727OTOFc.319A= (p.Ile107=)
2g.26519019A>CCA425209364OTOFc.318T>G (p.Ala106=)
2g.26519019A>GCA425209365OTOFc.318T>C (p.Ala106=)
2g.26519019A>TCA425209366OTOFc.318T>A (p.Ala106=)
2g.26519020G>ACA1564723OTOFc.317C>T (p.Ala106Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26519020G>CCA346139626OTOFc.317C>G (p.Ala106Gly)
dbSNP gnomAD v2 gnomAD v4
2g.26519020G=CA1239847728OTOFc.317C= (p.Ala106=)
2g.26519020G>TCA346139627OTOFc.317C>A (p.Ala106Asp)
2g.26519021C>ACA346139628OTOFc.316G>T (p.Ala106Ser)
2g.26519021C>GCA346139630OTOFc.316G>C (p.Ala106Pro)
2g.26519021C>TCA346139629OTOFc.316G>A (p.Ala106Thr)
2g.26519022A>CCA346139631OTOFc.315T>G (p.Asn105Lys)
2g.26519022A>GCA425209367OTOFc.315T>C (p.Asn105=)
ClinVar gnomAD v4
2g.26519022A>TCA346139632OTOFc.315T>A (p.Asn105Lys)
2g.26519023T>ACA346139633OTOFc.314A>T (p.Asn105Ile)
2g.26519023T>CCA1564724OTOFc.314A>G (p.Asn105Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519023T>GCA346139634OTOFc.314A>C (p.Asn105Thr)
2g.26519023T=CA1239847729OTOFc.314A= (p.Asn105=)
2g.26519024T>ACA346139635OTOFc.313A>T (p.Asn105Tyr)
2g.26519024T>CCA346139636OTOFc.313A>G (p.Asn105Asp)
2g.26519024T>GCA346139637OTOFc.313A>C (p.Asn105His)
2g.26519025G>ACA425209368OTOFc.312C>T (p.Asn104=)
2g.26519025G>CCA346139638OTOFc.312C>G (p.Asn104Lys)
2g.26519025G>TCA346139639OTOFc.312C>A (p.Asn104Lys)
2g.26519026T>ACA346139642OTOFc.311A>T (p.Asn104Ile)
2g.26519026T>CCA346139641OTOFc.311A>G (p.Asn104Ser)
dbSNP
2g.26519026T>GCA346139640OTOFc.311A>C (p.Asn104Thr)
COSMIC
2g.26519026T=CA1239847730OTOFc.311A= (p.Asn104=)
2g.26519027T>ACA346139643OTOFc.310A>T (p.Asn104Tyr)
2g.26519027T>CCA346139644OTOFc.310A>G (p.Asn104Asp)
2g.26519027T>GCA346139645OTOFc.310A>C (p.Asn104His)
2g.26519028G>ACA425209369OTOFc.309C>T (p.Asp103=)
2g.26519028G>CCA346139646OTOFc.309C>G (p.Asp103Glu)
dbSNP gnomAD v2 gnomAD v4
2g.26519028G=CA1239847731OTOFc.309C= (p.Asp103=)
2g.26519028G>TCA346139647OTOFc.309C>A (p.Asp103Glu)
dbSNP gnomAD v3 gnomAD v4
2g.26519029T>ACA346139650OTOFc.308A>T (p.Asp103Val)
2g.26519029T>CCA346139649OTOFc.308A>G (p.Asp103Gly)
dbSNP gnomAD v2 gnomAD v4
2g.26519029T>GCA346139648OTOFc.308A>C (p.Asp103Ala)
2g.26519029T=CA1239847732OTOFc.308A= (p.Asp103=)
2g.26519030C>ACA346139651OTOFc.307G>T (p.Asp103Tyr)
gnomAD v4
2g.26519030C>GCA346139652OTOFc.307G>C (p.Asp103His)
2g.26519030C>TCA346139653OTOFc.307G>A (p.Asp103Asn)
2g.26519031A=CA1239847733OTOFc.306T= (p.Asp102=)
2g.26519031A>CCA346139654OTOFc.306T>G (p.Asp102Glu)
2g.26519031A>GCA1564725OTOFc.306T>C (p.Asp102=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519031A>TCA346139655OTOFc.306T>A (p.Asp102Glu)
2g.26519032T>ACA1564726OTOFc.305A>T (p.Asp102Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519032T>CCA346139657OTOFc.305A>G (p.Asp102Gly)
2g.26519032T>GCA346139656OTOFc.305A>C (p.Asp102Ala)
2g.26519032T=CA1239847734OTOFc.305A= (p.Asp102=)
2g.26519033C>ACA346139658OTOFc.304G>T (p.Asp102Tyr)
gnomAD v4
2g.26519033C>GCA346139659OTOFc.304G>C (p.Asp102His)
gnomAD v4
2g.26519033C>TCA346139660OTOFc.304G>A (p.Asp102Asn)
2g.26519034A>CCA346139661OTOFc.303T>G (p.Ile101Met)
gnomAD v4
2g.26519034A>GCA425209370OTOFc.303T>C (p.Ile101=)
2g.26519034A>TCA425209371OTOFc.303T>A (p.Ile101=)
2g.26519035A=CA1239847735OTOFc.302T= (p.Ile101=)
2g.26519035A>CCA346139662OTOFc.302T>G (p.Ile101Ser)
2g.26519035A>GCA1564727OTOFc.302T>C (p.Ile101Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519035A>TCA346139663OTOFc.302T>A (p.Ile101Asn)
2g.26519036T>ACA346139664OTOFc.301A>T (p.Ile101Phe)
2g.26519036T>CCA346139665OTOFc.301A>G (p.Ile101Val)
2g.26519036T>GCA346139666OTOFc.301A>C (p.Ile101Leu)
2g.26519037C>ACA425209372OTOFc.300G>T (p.Leu100=)
gnomAD v4
2g.26519037C>GCA425209373OTOFc.300G>C (p.Leu100=)
2g.26519037C>TCA425209374OTOFc.300G>A (p.Leu100=)
gnomAD v4
2g.26519038A>CCA346139669OTOFc.299T>G (p.Leu100Arg)
2g.26519038A>GCA346139668OTOFc.299T>C (p.Leu100Pro)
2g.26519038A>TCA346139667OTOFc.299T>A (p.Leu100Gln)
2g.26519039G>ACA425209375OTOFc.298C>T (p.Leu100=)
2g.26519039G>CCA346139670OTOFc.298C>G (p.Leu100Val)
2g.26519039G>TCA346139671OTOFc.298C>A (p.Leu100Met)
2g.26519040C>ACA425209376OTOFc.297G>T (p.Thr99=)
2g.26519040C=CA1239847736OTOFc.297G= (p.Thr99=)
2g.26519040C>GCA425209377OTOFc.297G>C (p.Thr99=)
2g.26519040C>TCA142838OTOFc.297G>A (p.Thr99=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519041G>ACA1564728OTOFc.296C>T (p.Thr99Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26519041G>CCA346139672OTOFc.296C>G (p.Thr99Arg)
2g.26519041G=CA1239847737OTOFc.296C= (p.Thr99=)
2g.26519041G>TCA346139673OTOFc.296C>A (p.Thr99Lys)
gnomAD v4
2g.26519042T>ACA346139674OTOFc.295A>T (p.Thr99Ser)
2g.26519042T>CCA346139675OTOFc.295A>G (p.Thr99Ala)
2g.26519042T>GCA346139676OTOFc.295A>C (p.Thr99Pro)
2g.26519043G>ACA1564729OTOFc.294C>T (p.Asp98=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519043G>CCA346139677OTOFc.294C>G (p.Asp98Glu)
2g.26519043G=CA1239847738OTOFc.294C= (p.Asp98=)
2g.26519043G>TCA346139678OTOFc.294C>A (p.Asp98Glu)
dbSNP gnomAD v2 gnomAD v4
2g.26519044T>ACA346139680OTOFc.293A>T (p.Asp98Val)
2g.26519044T>CCA1564730OTOFc.293A>G (p.Asp98Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519044T>GCA346139679OTOFc.293A>C (p.Asp98Ala)
2g.26519044T=CA1239847739OTOFc.293A= (p.Asp98=)
2g.26519045C>ACA346139681OTOFc.292G>T (p.Asp98Tyr)
2g.26519045C>GCA346139682OTOFc.292G>C (p.Asp98His)
2g.26519045C>TCA346139683OTOFc.292G>A (p.Asp98Asn)
dbSNP gnomAD v3 gnomAD v4
2g.26519046A>CCA425209378OTOFc.291T>G (p.Thr97=)
2g.26519046A>GCA425209379OTOFc.291T>C (p.Thr97=)
gnomAD v4
2g.26519046A>TCA425209380OTOFc.291T>A (p.Thr97=)
2g.26519047G>ACA346139684OTOFc.290C>T (p.Thr97Ile)
2g.26519047G>CCA346139685OTOFc.290C>G (p.Thr97Ser)
2g.26519047G>TCA346139686OTOFc.290C>A (p.Thr97Asn)
2g.26519048T>ACA346139687OTOFc.289A>T (p.Thr97Ser)
gnomAD v4
2g.26519048T>CCA346139688OTOFc.289A>G (p.Thr97Ala)
2g.26519048T>GCA346139689OTOFc.289A>C (p.Thr97Pro)
2g.26519049C>ACA425209381OTOFc.288G>T (p.Val96=)
2g.26519049C>GCA425209382OTOFc.288G>C (p.Val96=)
2g.26519049C>TCA425209383OTOFc.288G>A (p.Val96=)
2g.26519050A=CA1239847740OTOFc.287T= (p.Val96=)
2g.26519050A>CCA346139690OTOFc.287T>G (p.Val96Gly)
2g.26519050A>GCA346139691OTOFc.287T>C (p.Val96Ala)
dbSNP
2g.26519050A>TCA346139692OTOFc.287T>A (p.Val96Glu)
2g.26519051C>ACA346139694OTOFc.286G>T (p.Val96Leu)
2g.26519051C=CA1239847741OTOFc.286G= (p.Val96=)
2g.26519051C>GCA346139695OTOFc.286G>C (p.Val96Leu)
2g.26519051C>TCA346139693OTOFc.286G>A (p.Val96Met)
dbSNP gnomAD v2 gnomAD v4
2g.26519052C>ACA346139696OTOFc.285G>T (p.Glu95Asp)
2g.26519052C=CA1239847742OTOFc.285G= (p.Glu95=)
2g.26519052C>GCA346139697OTOFc.285G>C (p.Glu95Asp)
2g.26519052C>TCA425209384OTOFc.285G>A (p.Glu95=)
dbSNP gnomAD v2 gnomAD v4
2g.26519053T>ACA346139698OTOFc.284A>T (p.Glu95Val)
2g.26519053T>CCA346139699OTOFc.284A>G (p.Glu95Gly)
2g.26519053T>GCA346139700OTOFc.284A>C (p.Glu95Ala)
2g.26519054C>ACA346139703OTOFc.283G>T (p.Glu95Ter)
2g.26519054C=CA1239847743OTOFc.283G= (p.Glu95=)
2g.26519054C>GCA346139702OTOFc.283G>C (p.Glu95Gln)
dbSNP gnomAD v3 gnomAD v4
2g.26519054C>TCA346139701OTOFc.283G>A (p.Glu95Lys)
2g.26519055C>ACA425209385OTOFc.282G>T (p.Val94=)
2g.26519055C>GCA425209386OTOFc.282G>C (p.Val94=)
2g.26519055C>TCA425209387OTOFc.282G>A (p.Val94=)
2g.26519056A=CA1239847744OTOFc.281T= (p.Val94=)
2g.26519056A>CCA1564731OTOFc.281T>G (p.Val94Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519056A>GCA346139704OTOFc.281T>C (p.Val94Ala)
gnomAD v4
2g.26519056A>TCA346139705OTOFc.281T>A (p.Val94Glu)
2g.26519057C>ACA346139706OTOFc.280G>T (p.Val94Leu)
2g.26519057C=CA1239847745OTOFc.280G= (p.Val94=)
2g.26519057C>GCA346139707OTOFc.280G>C (p.Val94Leu)
gnomAD v4
2g.26519057C>TCA346139708OTOFc.280G>A (p.Val94Met)
dbSNP gnomAD v2 gnomAD v4
2g.26519058A=CA1239847746OTOFc.279T= (p.His93=)
2g.26519058A>CCA346139709OTOFc.279T>G (p.His93Gln)
2g.26519058A>GCA1564732OTOFc.279T>C (p.His93=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519058A>TCA346139710OTOFc.279T>A (p.His93Gln)
2g.26519059T>ACA346139711OTOFc.278A>T (p.His93Leu)
dbSNP gnomAD v2 gnomAD v4
2g.26519059T>CCA346139712OTOFc.278A>G (p.His93Arg)
2g.26519059T>GCA346139713OTOFc.278A>C (p.His93Pro)
2g.26519059T=CA1239847747OTOFc.278A= (p.His93=)
2g.26519060G>ACA346139714OTOFc.277C>T (p.His93Tyr)
dbSNP gnomAD v4
2g.26519060G>CCA346139715OTOFc.277C>G (p.His93Asp)
2g.26519060G>TCA346139716OTOFc.277C>A (p.His93Asn)
2g.26519061G>ACA425209388OTOFc.276C>T (p.Ser92=)
gnomAD v4 COSMIC
2g.26519061G>CCA44437303OTOFc.276C>G (p.Ser92Arg)
dbSNP gnomAD v3 gnomAD v4
2g.26519061G=CA1239847748OTOFc.276C= (p.Ser92=)
2g.26519061G>TCA346139717OTOFc.276C>A (p.Ser92Arg)
COSMIC
2g.26519062C>ACA346139718OTOFc.275G>T (p.Ser92Ile)
2g.26519062C>GCA346139719OTOFc.275G>C (p.Ser92Thr)
gnomAD v4
2g.26519062C>TCA346139720OTOFc.275G>A (p.Ser92Asn)
2g.26519063T>ACA346139723OTOFc.274A>T (p.Ser92Cys)
2g.26519063T>CCA346139722OTOFc.274A>G (p.Ser92Gly)
2g.26519063T>GCA346139721OTOFc.274A>C (p.Ser92Arg)
2g.26519064C>ACA346139724OTOFc.273G>T (p.Glu91Asp)
2g.26519064C>GCA346139725OTOFc.273G>C (p.Glu91Asp)
COSMIC
2g.26519064C>TCA425209389OTOFc.273G>A (p.Glu91=)
gnomAD v4
2g.26519065T>ACA346139726OTOFc.272A>T (p.Glu91Val)
2g.26519065T>CCA346139728OTOFc.272A>G (p.Glu91Gly)
gnomAD v4
2g.26519065T>GCA346139727OTOFc.272A>C (p.Glu91Ala)
gnomAD v4
2g.26519066C>ACA346139729OTOFc.271G>T (p.Glu91Ter)
gnomAD v4
2g.26519066C=CA1239847749OTOFc.271G= (p.Glu91=)
2g.26519066C>GCA346139730OTOFc.271G>C (p.Glu91Gln)
2g.26519066C>TCA346139731OTOFc.271G>A (p.Glu91Lys)
dbSNP gnomAD v3 gnomAD v4
2g.26519067C>ACA346139732OTOFc.270G>T (p.Glu90Asp)
2g.26519067C=CA1239847750OTOFc.270G= (p.Glu90=)
2g.26519067C>GCA346139733OTOFc.270G>C (p.Glu90Asp)
2g.26519067C>TCA425209390OTOFc.270G>A (p.Glu90=)
dbSNP gnomAD v2 gnomAD v4
2g.26519068T>ACA346139734OTOFc.269A>T (p.Glu90Val)
2g.26519068T>CCA346139735OTOFc.269A>G (p.Glu90Gly)
2g.26519068T>GCA346139736OTOFc.269A>C (p.Glu90Ala)
2g.26519069C>ACA346139737OTOFc.268G>T (p.Glu90Ter)
gnomAD v4
2g.26519069C>GCA346139738OTOFc.268G>C (p.Glu90Gln)
2g.26519069C>TCA346139739OTOFc.268G>A (p.Glu90Lys)
gnomAD v4
2g.26519070T>ACA425209391OTOFc.267A>T (p.Val89=)
2g.26519070T>CCA425209392OTOFc.267A>G (p.Val89=)
2g.26519070T>GCA425209393OTOFc.267A>C (p.Val89=)
gnomAD v4
2g.26519071A=CA1239847751OTOFc.266T= (p.Val89=)
2g.26519071A>CCA346139741OTOFc.266T>G (p.Val89Gly)
2g.26519071A>GCA346139740OTOFc.266T>C (p.Val89Ala)
dbSNP
2g.26519071A>TCA1564733OTOFc.266T>A (p.Val89Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26519072C>ACA346139742OTOFc.265G>T (p.Val89Leu)
2g.26519072C=CA1239847752OTOFc.265G= (p.Val89=)
2g.26519072C>GCA346139743OTOFc.265G>C (p.Val89Leu)
2g.26519072C>TCA346139744OTOFc.265G>A (p.Val89Ile)
dbSNP gnomAD v2 gnomAD v4
2g.26519073C>ACA425209394OTOFc.264G>T (p.Val88=)
gnomAD v4
2g.26519073C>GCA425209396OTOFc.264G>C (p.Val88=)
2g.26519073C>TCA425209395OTOFc.264G>A (p.Val88=)
ClinVar
2g.26519074A=CA1239847753OTOFc.263T= (p.Val88=)
2g.26519074A>CCA346139745OTOFc.263T>G (p.Val88Gly)
2g.26519074A>GCA1564734OTOFc.263T>C (p.Val88Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26519074A>TCA346139746OTOFc.263T>A (p.Val88Glu)
2g.26519075C>ACA346139747OTOFc.262G>T (p.Val88Leu)
2g.26519075C=CA1239847754OTOFc.262G= (p.Val88=)
2g.26519075C>GCA346139748OTOFc.262G>C (p.Val88Leu)
2g.26519075C>TCA1564735OTOFc.262G>A (p.Val88Met)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26519076C>ACA1564736OTOFc.261G>T (p.Lys87Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26519076C=CA1239847755OTOFc.261G= (p.Lys87=)
2g.26519076C>GCA346139749OTOFc.261G>C (p.Lys87Asn)
2g.26519076C>TCA425209397OTOFc.261G>A (p.Lys87=)
gnomAD v4
2g.26519077T>ACA346139751OTOFc.260A>T (p.Lys87Met)
2g.26519077T>CCA346139752OTOFc.260A>G (p.Lys87Arg)
dbSNP gnomAD v4
2g.26519077T>GCA346139750OTOFc.260A>C (p.Lys87Thr)
2g.26519077T=CA1239847756OTOFc.260A= (p.Lys87=)
2g.26519078T>ACA346139753OTOFc.259A>T (p.Lys87Ter)
2g.26519078T>CCA346139754OTOFc.259A>G (p.Lys87Glu)
2g.26519078T>GCA346139755OTOFc.259A>C (p.Lys87Gln)
2g.26519079C>ACA346139756OTOFc.258G>T (p.Gln86His)
2g.26519079C=CA1239847757OTOFc.258G= (p.Gln86=)
2g.26519079C>GCA346139757OTOFc.258G>C (p.Gln86His)
dbSNP gnomAD v2 gnomAD v4
2g.26519079C>TCA425209398OTOFc.258G>A (p.Gln86=)
ClinVar gnomAD v4
2g.26519080T>ACA346139758OTOFc.257A>T (p.Gln86Leu)
2g.26519080T>CCA346139759OTOFc.257A>G (p.Gln86Arg)
2g.26519080T>GCA346139760OTOFc.257A>C (p.Gln86Pro)
2g.26519081G>ACA346139761OTOFc.256C>T (p.Gln86Ter)
gnomAD v4
2g.26519081G>CCA346139762OTOFc.256C>G (p.Gln86Glu)
2g.26519081G>TCA346139763OTOFc.256C>A (p.Gln86Lys)
gnomAD v4
2g.26519082C>ACA425209399OTOFc.255G>T (p.Leu85=)
gnomAD v4
2g.26519082C>GCA425209400OTOFc.255G>C (p.Leu85=)
2g.26519082C>TCA425209401OTOFc.255G>A (p.Leu85=)
gnomAD v4
2g.26519083A>CCA346139764OTOFc.254T>G (p.Leu85Arg)
2g.26519083A>GCA346139765OTOFc.254T>C (p.Leu85Pro)
2g.26519083A>TCA346139766OTOFc.254T>A (p.Leu85Gln)
2g.26519083_26519084insTGGTCA2658241347OTOFc.253_254insACCA (p.Leu85HisfsTer15)
gnomAD v4
2g.26519084G>ACA425209402OTOFc.253C>T (p.Leu85=)
gnomAD v4
2g.26519084G>CCA346139767OTOFc.253C>G (p.Leu85Val)
2g.26519084G>TCA346139768OTOFc.253C>A (p.Leu85Met)
gnomAD v4
2g.26519085C>ACA425209403OTOFc.252G>T (p.Val84=)
2g.26519085C=CA1239847758OTOFc.252G= (p.Val84=)
2g.26519085C>GCA425209405OTOFc.252G>C (p.Val84=)
gnomAD v4
2g.26519085C>TCA425209404OTOFc.252G>A (p.Val84=)
ClinVar dbSNP gnomAD v4
2g.26519086A=CA1239847759OTOFc.251T= (p.Val84=)
2g.26519086A>CCA346139769OTOFc.251T>G (p.Val84Gly)
2g.26519086A>GCA185050OTOFc.251T>C (p.Val84Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26519086A>TCA346139770OTOFc.251T>A (p.Val84Glu)
gnomAD v4
2g.26519086_26519089delCA2658241348OTOFc.248_251del (p.Met83SerfsTer6)
gnomAD v4
2g.26519087C>ACA346139771OTOFc.250G>T (p.Val84Leu)
2g.26519087C>GCA346139772OTOFc.250G>C (p.Val84Leu)
2g.26519087C>TCA346139773OTOFc.250G>A (p.Val84Met)
2g.26519088delCA2557242185OTOFc.250del (p.Val84CysfsTer6)
gnomAD v4
2g.26519088C>ACA346139774OTOFc.249G>T (p.Met83Ile)
2g.26519088C=CA1239847760OTOFc.249G= (p.Met83=)
2g.26519088C>GCA346139775OTOFc.249G>C (p.Met83Ile)
2g.26519088C>TCA346139776OTOFc.249G>A (p.Met83Ile)
dbSNP gnomAD v4
2g.26519089A=CA1239847761OTOFc.248T= (p.Met83=)
2g.26519089A>CCA346139777OTOFc.248T>G (p.Met83Arg)
gnomAD v4
2g.26519089A>GCA1564737OTOFc.248T>C (p.Met83Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26519089A>TCA346139778OTOFc.248T>A (p.Met83Lys)
2g.26519090T>ACA346139781OTOFc.247A>T (p.Met83Leu)
gnomAD v4
2g.26519090T>CCA346139780OTOFc.247A>G (p.Met83Val)
2g.26519090T>GCA346139779OTOFc.247A>C (p.Met83Leu)
2g.26519091G>ACA425209406OTOFc.246C>T (p.Arg82=)
gnomAD v4
2g.26519091G>CCA425209408OTOFc.246C>G (p.Arg82=)
2g.26519091G>TCA425209407OTOFc.246C>A (p.Arg82=)
2g.26519092C>ACA346139782OTOFc.245G>T (p.Arg82Leu)
dbSNP gnomAD v4
2g.26519092C=CA1239847762OTOFc.245G= (p.Arg82=)
2g.26519092C>GCA346139783OTOFc.245G>C (p.Arg82Pro)
2g.26519092C>TCA142807OTOFc.245G>A (p.Arg82His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched