Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.41842175G>ACA399530472KLHL10c.547G>A (p.Val183Ile)
c.283G>A (p.Val95Ile)
17g.41842175G>CCA399530473KLHL10c.547G>C (p.Val183Leu)
c.283G>C (p.Val95Leu)
17g.41842175G>TCA399530471KLHL10c.547G>T (p.Val183Phe)
c.283G>T (p.Val95Phe)
17g.41842176T>ACA399530474KLHL10c.548T>A (p.Val183Asp)
c.284T>A (p.Val95Asp)
17g.41842176T>CCA399530475KLHL10c.548T>C (p.Val183Ala)
c.284T>C (p.Val95Ala)
gnomAD v4
17g.41842176T>GCA399530476KLHL10c.548T>G (p.Val183Gly)
c.284T>G (p.Val95Gly)
17g.41842177C>ACA500208713KLHL10c.549C>A (p.Val183=)
c.285C>A (p.Val95=)
gnomAD v4
17g.41842177C>GCA500208715KLHL10c.549C>G (p.Val183=)
c.285C>G (p.Val95=)
17g.41842177C>TCA500208714KLHL10c.549C>T (p.Val183=)
c.285C>T (p.Val95=)
17g.41842178A>CCA399530477KLHL10c.550A>C (p.Thr184Pro)
c.286A>C (p.Thr96Pro)
17g.41842178A>GCA399530478KLHL10c.550A>G (p.Thr184Ala)
c.286A>G (p.Thr96Ala)
gnomAD v4
17g.41842178A>TCA399530479KLHL10c.550A>T (p.Thr184Ser)
c.286A>T (p.Thr96Ser)
17g.41842179C>ACA399530480KLHL10c.551C>A (p.Thr184Asn)
c.287C>A (p.Thr96Asn)
17g.41842179C>GCA399530481KLHL10c.551C>G (p.Thr184Ser)
c.287C>G (p.Thr96Ser)
17g.41842179C>TCA399530482KLHL10c.551C>T (p.Thr184Ile)
c.287C>T (p.Thr96Ile)
17g.41842180T>ACA500208716KLHL10c.552T>A (p.Thr184=)
c.288T>A (p.Thr96=)
17g.41842180T>CCA500208718KLHL10c.552T>C (p.Thr184=)
c.288T>C (p.Thr96=)
17g.41842180T>GCA500208717KLHL10c.552T>G (p.Thr184=)
c.288T>G (p.Thr96=)
17g.41842181G>ACA399530483KLHL10c.553G>A (p.Glu185Lys)
c.289G>A (p.Glu97Lys)
17g.41842181G>CCA399530484KLHL10c.553G>C (p.Glu185Gln)
c.289G>C (p.Glu97Gln)
17g.41842181G>TCA399530485KLHL10c.553G>T (p.Glu185Ter)
c.289G>T (p.Glu97Ter)
17g.41842182A=CA2260211005KLHL10c.554A= (p.Glu185=)
c.290A= (p.Glu97=)
17g.41842182A>CCA399530487KLHL10c.554A>C (p.Glu185Ala)
c.290A>C (p.Glu97Ala)
dbSNP gnomAD v4
17g.41842182A>GCA399530488KLHL10c.554A>G (p.Glu185Gly)
c.290A>G (p.Glu97Gly)
dbSNP gnomAD v2 gnomAD v4
17g.41842182A>TCA399530486KLHL10c.554A>T (p.Glu185Val)
c.290A>T (p.Glu97Val)
17g.41842183A>CCA399530489KLHL10c.555A>C (p.Glu185Asp)
c.291A>C (p.Glu97Asp)
17g.41842183A>GCA500208719KLHL10c.555A>G (p.Glu185=)
c.291A>G (p.Glu97=)
17g.41842183A>TCA399530490KLHL10c.555A>T (p.Glu185Asp)
c.291A>T (p.Glu97Asp)
17g.41842184C>ACA399530491KLHL10c.556C>A (p.Leu186Ile)
c.292C>A (p.Leu98Ile)
17g.41842184C=CA2260211006KLHL10c.556C= (p.Leu186=)
c.292C= (p.Leu98=)
17g.41842184C>GCA399530492KLHL10c.556C>G (p.Leu186Val)
c.292C>G (p.Leu98Val)
17g.41842184C>TCA8567231KLHL10c.556C>T (p.Leu186Phe)
c.292C>T (p.Leu98Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.41842185T>ACA399530495KLHL10c.557T>A (p.Leu186His)
c.293T>A (p.Leu98His)
17g.41842185T>CCA399530493KLHL10c.557T>C (p.Leu186Pro)
c.293T>C (p.Leu98Pro)
17g.41842185T>GCA399530494KLHL10c.557T>G (p.Leu186Arg)
c.293T>G (p.Leu98Arg)
17g.41842186T>ACA500208722KLHL10c.558T>A (p.Leu186=)
c.294T>A (p.Leu98=)
17g.41842186T>CCA500208720KLHL10c.558T>C (p.Leu186=)
c.294T>C (p.Leu98=)
17g.41842186T>GCA500208721KLHL10c.558T>G (p.Leu186=)
c.294T>G (p.Leu98=)
17g.41842187A>CCA399530496KLHL10c.559A>C (p.Lys187Gln)
c.295A>C (p.Lys99Gln)
17g.41842187A>GCA399530497KLHL10c.559A>G (p.Lys187Glu)
c.295A>G (p.Lys99Glu)
17g.41842187A>TCA399530498KLHL10c.559A>T (p.Lys187Ter)
c.295A>T (p.Lys99Ter)
17g.41842188A=CA2260211007KLHL10c.560A= (p.Lys187=)
c.296A= (p.Lys99=)
17g.41842188A>CCA399530499KLHL10c.560A>C (p.Lys187Thr)
c.296A>C (p.Lys99Thr)
17g.41842188A>GCA399530500KLHL10c.560A>G (p.Lys187Arg)
c.296A>G (p.Lys99Arg)
17g.41842188A>TCA8567232KLHL10c.560A>T (p.Lys187Met)
c.296A>T (p.Lys99Met)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.41842189G>ACA500208723KLHL10c.561G>A (p.Lys187=)
c.297G>A (p.Lys99=)
gnomAD v4
17g.41842189G>CCA399530502KLHL10c.561G>C (p.Lys187Asn)
c.297G>C (p.Lys99Asn)
17g.41842189G>TCA399530501KLHL10c.561G>T (p.Lys187Asn)
c.297G>T (p.Lys99Asn)
17g.41842190G>ACA399530503KLHL10c.562G>A (p.Asp188Asn)
c.298G>A (p.Asp100Asn)
gnomAD v4
17g.41842190G>CCA399530505KLHL10c.562G>C (p.Asp188His)
c.298G>C (p.Asp100His)
dbSNP gnomAD v2 gnomAD v4
17g.41842190G=CA2260211008KLHL10c.562G= (p.Asp188=)
c.298G= (p.Asp100=)
17g.41842190G>TCA399530504KLHL10c.562G>T (p.Asp188Tyr)
c.298G>T (p.Asp100Tyr)
17g.41842191A=CA2260211009KLHL10c.563A= (p.Asp188=)
c.299A= (p.Asp100=)
17g.41842191A>CCA399530506KLHL10c.563A>C (p.Asp188Ala)
c.299A>C (p.Asp100Ala)
gnomAD v4
17g.41842191A>GCA399530507KLHL10c.563A>G (p.Asp188Gly)
c.299A>G (p.Asp100Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41842191A>TCA399530508KLHL10c.563A>T (p.Asp188Val)
c.299A>T (p.Asp100Val)
17g.41842192T>ACA399530509KLHL10c.564T>A (p.Asp188Glu)
c.300T>A (p.Asp100Glu)
dbSNP gnomAD v2 gnomAD v4
17g.41842192T>CCA500208724KLHL10c.564T>C (p.Asp188=)
c.300T>C (p.Asp100=)
dbSNP gnomAD v3 gnomAD v4
17g.41842192T>GCA399530510KLHL10c.564T>G (p.Asp188Glu)
c.300T>G (p.Asp100Glu)
17g.41842192T=CA2260211010KLHL10c.564T= (p.Asp188=)
c.300T= (p.Asp100=)
17g.41842193A=CA2260211011KLHL10c.565A= (p.Ile189=)
c.301A= (p.Ile101=)
17g.41842193A>CCA399530511KLHL10c.565A>C (p.Ile189Leu)
c.301A>C (p.Ile101Leu)
17g.41842193A>GCA8567233KLHL10c.565A>G (p.Ile189Val)
c.301A>G (p.Ile101Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41842193A>TCA399530512KLHL10c.565A>T (p.Ile189Phe)
c.301A>T (p.Ile101Phe)
17g.41842194T>ACA399530513KLHL10c.566T>A (p.Ile189Asn)
c.302T>A (p.Ile101Asn)
17g.41842194T>CCA399530514KLHL10c.566T>C (p.Ile189Thr)
c.302T>C (p.Ile101Thr)
17g.41842194T>GCA399530515KLHL10c.566T>G (p.Ile189Ser)
c.302T>G (p.Ile101Ser)
17g.41842195C>ACA500208725KLHL10c.567C>A (p.Ile189=)
c.303C>A (p.Ile101=)
17g.41842195C>GCA399530516KLHL10c.567C>G (p.Ile189Met)
c.303C>G (p.Ile101Met)
17g.41842195C>TCA500208726KLHL10c.567C>T (p.Ile189=)
c.303C>T (p.Ile101=)
17g.41842196A=CA2260211012KLHL10c.568A= (p.Ile190=)
c.304A= (p.Ile102=)
17g.41842196A>CCA399530517KLHL10c.568A>C (p.Ile190Leu)
c.304A>C (p.Ile102Leu)
gnomAD v4
17g.41842196A>GCA8567235KLHL10c.568A>G (p.Ile190Val)
c.304A>G (p.Ile102Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41842196A>TCA8567234KLHL10c.568A>T (p.Ile190Phe)
c.304A>T (p.Ile102Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.41842197T>ACA399530518KLHL10c.569T>A (p.Ile190Asn)
c.305T>A (p.Ile102Asn)
17g.41842197T>CCA8567236KLHL10c.569T>C (p.Ile190Thr)
c.305T>C (p.Ile102Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.41842197T>GCA399530519KLHL10c.569T>G (p.Ile190Ser)
c.305T>G (p.Ile102Ser)
17g.41842197T=CA2260211013KLHL10c.569T= (p.Ile190=)
c.305T= (p.Ile102=)
17g.41842198T>ACA500208727KLHL10c.570T>A (p.Ile190=)
c.306T>A (p.Ile102=)
17g.41842198T>CCA500208728KLHL10c.570T>C (p.Ile190=)
c.306T>C (p.Ile102=)
17g.41842198T>GCA399530520KLHL10c.570T>G (p.Ile190Met)
c.306T>G (p.Ile102Met)
17g.41842199G>ACA399530521KLHL10c.571G>A (p.Glu191Lys)
c.307G>A (p.Glu103Lys)
COSMIC
17g.41842199G>CCA399530522KLHL10c.571G>C (p.Glu191Gln)
c.307G>C (p.Glu103Gln)
17g.41842199G>TCA399530523KLHL10c.571G>T (p.Glu191Ter)
c.307G>T (p.Glu103Ter)
17g.41842200A>CCA399530524KLHL10c.572A>C (p.Glu191Ala)
c.308A>C (p.Glu103Ala)
gnomAD v4
17g.41842200A>GCA399530525KLHL10c.572A>G (p.Glu191Gly)
c.308A>G (p.Glu103Gly)
17g.41842200A>TCA399530526KLHL10c.572A>T (p.Glu191Val)
c.308A>T (p.Glu103Val)
17g.41842201G>ACA399530528KLHL10c.573G>A (p.Glu191=)
c.309G>A (p.Glu103=)
dbSNP gnomAD v4
17g.41842201G>CCA8567237KLHL10c.573G>C (p.Glu191Asp)
c.309G>C (p.Glu103Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41842201G=CA2260211014KLHL10c.573G= (p.Glu191=)
c.309G= (p.Glu103=)
17g.41842201G>TCA399530527KLHL10c.573G>T (p.Glu191Asp)
c.309G>T (p.Glu103Asp)
17g.41842202A>CCA399530529KLHL10c.574A>C (p.Lys192Gln)
c.310A>C (p.Lys104Gln)
17g.41842202A>GCA399530530KLHL10c.574A>G (p.Lys192Glu)
c.310A>G (p.Lys104Glu)
17g.41842202A>TCA399530531KLHL10c.574A>T (p.Lys192Ter)
c.310A>T (p.Lys104Ter)
17g.41842203A>CCA399530532KLHL10c.575A>C (p.Lys192Thr)
c.311A>C (p.Lys104Thr)
17g.41842203A>GCA399530533KLHL10c.575A>G (p.Lys192Arg)
c.311A>G (p.Lys104Arg)
17g.41842203A>TCA399530534KLHL10c.575A>T (p.Lys192Ile)
c.311A>T (p.Lys104Ile)
17g.41842204A=CA2260211015KLHL10c.576A= (p.Lys192=)
c.312A= (p.Lys104=)
17g.41842204A>CCA399530535KLHL10c.576A>C (p.Lys192Asn)
c.312A>C (p.Lys104Asn)
17g.41842204A>GCA500208731KLHL10c.576A>G (p.Lys192=)
c.312A>G (p.Lys104=)
dbSNP
17g.41842204A>TCA399530536KLHL10c.576A>T (p.Lys192Asn)
c.312A>T (p.Lys104Asn)
17g.41842205G>ACA399530537KLHL10c.577G>A (p.Asp193Asn)
c.313G>A (p.Asp105Asn)
COSMIC
17g.41842205G>CCA399530538KLHL10c.577G>C (p.Asp193His)
c.313G>C (p.Asp105His)
gnomAD v4 COSMIC
17g.41842205G>TCA399530539KLHL10c.577G>T (p.Asp193Tyr)
c.313G>T (p.Asp105Tyr)
17g.41842206A>CCA399530540KLHL10c.578A>C (p.Asp193Ala)
c.314A>C (p.Asp105Ala)
17g.41842206A>GCA399530541KLHL10c.578A>G (p.Asp193Gly)
c.314A>G (p.Asp105Gly)
COSMIC
17g.41842206A>TCA399530542KLHL10c.578A>T (p.Asp193Val)
c.314A>T (p.Asp105Val)
17g.41842207T>ACA399530543KLHL10c.579T>A (p.Asp193Glu)
c.315T>A (p.Asp105Glu)
17g.41842207T>CCA500208732KLHL10c.579T>C (p.Asp193=)
c.315T>C (p.Asp105=)
17g.41842207T>GCA399530544KLHL10c.579T>G (p.Asp193Glu)
c.315T>G (p.Asp105Glu)
17g.41842208G>ACA399530545KLHL10c.580G>A (p.Glu194Lys)
c.316G>A (p.Glu106Lys)
gnomAD v4
17g.41842208G>CCA399530546KLHL10c.580G>C (p.Glu194Gln)
c.316G>C (p.Glu106Gln)
17g.41842208G>TCA399530547KLHL10c.580G>T (p.Glu194Ter)
c.316G>T (p.Glu106Ter)
17g.41842209A>CCA399530548KLHL10c.581A>C (p.Glu194Ala)
c.317A>C (p.Glu106Ala)
17g.41842209A>GCA399530549KLHL10c.581A>G (p.Glu194Gly)
c.317A>G (p.Glu106Gly)
17g.41842209A>TCA399530550KLHL10c.581A>T (p.Glu194Val)
c.317A>T (p.Glu106Val)
17g.41842210G>ACA500208734KLHL10c.582G>A (p.Glu194=)
c.318G>A (p.Glu106=)
gnomAD v4
17g.41842210G>CCA399530551KLHL10c.582G>C (p.Glu194Asp)
c.318G>C (p.Glu106Asp)
ClinVar gnomAD v4
17g.41842210G>TCA399530552KLHL10c.582G>T (p.Glu194Asp)
c.318G>T (p.Glu106Asp)
17g.41842211C>ACA399530553KLHL10c.583C>A (p.Leu195Ile)
c.319C>A (p.Leu107Ile)
17g.41842211C>GCA399530554KLHL10c.583C>G (p.Leu195Val)
c.319C>G (p.Leu107Val)
17g.41842211C>TCA399530555KLHL10c.583C>T (p.Leu195Phe)
c.319C>T (p.Leu107Phe)
17g.41842212T>ACA399530556KLHL10c.584T>A (p.Leu195His)
c.320T>A (p.Leu107His)
17g.41842212T>CCA399530557KLHL10c.584T>C (p.Leu195Pro)
c.320T>C (p.Leu107Pro)
17g.41842212T>GCA399530558KLHL10c.584T>G (p.Leu195Arg)
c.320T>G (p.Leu107Arg)
17g.41842213C>ACA500208738KLHL10c.585C>A (p.Leu195=)
c.321C>A (p.Leu107=)
17g.41842213C>GCA500208740KLHL10c.585C>G (p.Leu195=)
c.321C>G (p.Leu107=)
17g.41842213C>TCA500208739KLHL10c.585C>T (p.Leu195=)
c.321C>T (p.Leu107=)
17g.41842214A=CA2260211016KLHL10c.586A= (p.Asn196=)
c.322A= (p.Asn108=)
17g.41842214A>CCA399530560KLHL10c.586A>C (p.Asn196His)
c.322A>C (p.Asn108His)
17g.41842214A>GCA290704727KLHL10c.586A>G (p.Asn196Asp)
c.322A>G (p.Asn108Asp)
dbSNP gnomAD v4
17g.41842214A>TCA399530559KLHL10c.586A>T (p.Asn196Tyr)
c.322A>T (p.Asn108Tyr)
17g.41842215A=CA2260211017KLHL10c.587A= (p.Asn196=)
c.323A= (p.Asn108=)
17g.41842215A>CCA399530561KLHL10c.587A>C (p.Asn196Thr)
c.323A>C (p.Asn108Thr)
17g.41842215A>GCA290704728KLHL10c.587A>G (p.Asn196Ser)
c.323A>G (p.Asn108Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41842215A>TCA399530562KLHL10c.587A>T (p.Asn196Ile)
c.323A>T (p.Asn108Ile)
17g.41842216T>ACA399530563KLHL10c.588T>A (p.Asn196Lys)
c.324T>A (p.Asn108Lys)
17g.41842216T>CCA500208744KLHL10c.588T>C (p.Asn196=)
c.324T>C (p.Asn108=)
COSMIC
17g.41842216T>GCA399530564KLHL10c.588T>G (p.Asn196Lys)
c.324T>G (p.Asn108Lys)
17g.41842217G>ACA399530565KLHL10c.589G>A (p.Val197Ile)
c.325G>A (p.Val109Ile)
dbSNP gnomAD v3 gnomAD v4
17g.41842217G>CCA399530566KLHL10c.589G>C (p.Val197Leu)
c.325G>C (p.Val109Leu)
17g.41842217G=CA2260211018KLHL10c.589G= (p.Val197=)
c.325G= (p.Val109=)
17g.41842217G>TCA399530567KLHL10c.589G>T (p.Val197Phe)
c.325G>T (p.Val109Phe)
17g.41842218T>ACA399530568KLHL10c.590T>A (p.Val197Asp)
c.326T>A (p.Val109Asp)
17g.41842218T>CCA399530569KLHL10c.590T>C (p.Val197Ala)
c.326T>C (p.Val109Ala)
17g.41842218T>GCA399530570KLHL10c.590T>G (p.Val197Gly)
c.326T>G (p.Val109Gly)
17g.41842219C>ACA500208751KLHL10c.591C>A (p.Val197=)
c.327C>A (p.Val109=)
17g.41842219C=CA2260211019KLHL10c.591C= (p.Val197=)
c.327C= (p.Val109=)
17g.41842219C>GCA500208752KLHL10c.591C>G (p.Val197=)
c.327C>G (p.Val109=)
17g.41842219C>TCA500208750KLHL10c.591C>T (p.Val197=)
c.327C>T (p.Val109=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41842220A>CCA399530571KLHL10c.592A>C (p.Lys198Gln)
c.328A>C (p.Lys110Gln)
17g.41842220A>GCA399530572KLHL10c.592A>G (p.Lys198Glu)
c.328A>G (p.Lys110Glu)
17g.41842220A>TCA399530573KLHL10c.592A>T (p.Lys198Ter)
c.328A>T (p.Lys110Ter)
17g.41842222delCA2637874995KLHL10c.594del (p.Lys198AsnfsTer11)
c.330del (p.Lys110AsnfsTer11)
gnomAD v4
17g.41842221A>CCA399530574KLHL10c.593A>C (p.Lys198Thr)
c.329A>C (p.Lys110Thr)
17g.41842221A>GCA399530575KLHL10c.593A>G (p.Lys198Arg)
c.329A>G (p.Lys110Arg)
17g.41842221A>TCA399530576KLHL10c.593A>T (p.Lys198Ile)
c.329A>T (p.Lys110Ile)
17g.41842222A=CA2260211020KLHL10c.594A= (p.Lys198=)
c.330A= (p.Lys110=)
17g.41842222A>CCA399530578KLHL10c.594A>C (p.Lys198Asn)
c.330A>C (p.Lys110Asn)
17g.41842222A>GCA8567238KLHL10c.594A>G (p.Lys198=)
c.330A>G (p.Lys110=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41842222A>TCA399530577KLHL10c.594A>T (p.Lys198Asn)
c.330A>T (p.Lys110Asn)
17g.41842223C>ACA399530579KLHL10c.595C>A (p.Gln199Lys)
c.331C>A (p.Gln111Lys)
17g.41842223C>GCA399530580KLHL10c.595C>G (p.Gln199Glu)
c.331C>G (p.Gln111Glu)
17g.41842223C>TCA399530581KLHL10c.595C>T (p.Gln199Ter)
c.331C>T (p.Gln111Ter)
17g.41842224A>CCA399530582KLHL10c.596A>C (p.Gln199Pro)
c.332A>C (p.Gln111Pro)
17g.41842224A>GCA399530583KLHL10c.596A>G (p.Gln199Arg)
c.332A>G (p.Gln111Arg)
17g.41842224A>TCA399530584KLHL10c.596A>T (p.Gln199Leu)
c.332A>T (p.Gln111Leu)
17g.41842225G>ACA500208764KLHL10c.597G>A (p.Gln199=)
c.333G>A (p.Gln111=)
dbSNP
17g.41842225G>CCA399530585KLHL10c.597G>C (p.Gln199His)
c.333G>C (p.Gln111His)
17g.41842225G=CA2260211021KLHL10c.597G= (p.Gln199=)
c.333G= (p.Gln111=)
17g.41842225G>TCA399530586KLHL10c.597G>T (p.Gln199His)
c.333G>T (p.Gln111His)
17g.41842226G>ACA399530587KLHL10c.598G>A (p.Glu200Lys)
c.334G>A (p.Glu112Lys)
17g.41842226G>CCA399530588KLHL10c.598G>C (p.Glu200Gln)
c.334G>C (p.Glu112Gln)
17g.41842226G>TCA399530589KLHL10c.598G>T (p.Glu200Ter)
c.334G>T (p.Glu112Ter)
17g.41842227A>CCA399530592KLHL10c.599A>C (p.Glu200Ala)
c.335A>C (p.Glu112Ala)
17g.41842227A>GCA399530591KLHL10c.599A>G (p.Glu200Gly)
c.335A>G (p.Glu112Gly)
17g.41842227A>TCA399530590KLHL10c.599A>T (p.Glu200Val)
c.335A>T (p.Glu112Val)
17g.41842228A>CCA399530594KLHL10c.600A>C (p.Glu200Asp)
c.336A>C (p.Glu112Asp)
17g.41842228A>GCA500208767KLHL10c.600A>G (p.Glu200=)
c.336A>G (p.Glu112=)
17g.41842228A>TCA399530596KLHL10c.600A>T (p.Glu200Asp)
c.336A>T (p.Glu112Asp)
17g.41842229G>ACA399530597KLHL10c.601G>A (p.Asp201Asn)
c.337G>A (p.Asp113Asn)
17g.41842229G>CCA399530598KLHL10c.601G>C (p.Asp201His)
c.337G>C (p.Asp113His)
17g.41842229G>TCA399530599KLHL10c.601G>T (p.Asp201Tyr)
c.337G>T (p.Asp113Tyr)
COSMIC
17g.41842230A>CCA399530600KLHL10c.602A>C (p.Asp201Ala)
c.338A>C (p.Asp113Ala)
17g.41842230A>GCA399530601KLHL10c.602A>G (p.Asp201Gly)
c.338A>G (p.Asp113Gly)
17g.41842230A>TCA399530602KLHL10c.602A>T (p.Asp201Val)
c.338A>T (p.Asp113Val)
17g.41842231T>ACA399530603KLHL10c.603T>A (p.Asp201Glu)
c.339T>A (p.Asp113Glu)
17g.41842231T>CCA500208769KLHL10c.603T>C (p.Asp201=)
c.339T>C (p.Asp113=)
gnomAD v4
17g.41842231T>GCA399530604KLHL10c.603T>G (p.Asp201Glu)
c.339T>G (p.Asp113Glu)
17g.41842232G>ACA399530605KLHL10c.604G>A (p.Ala202Thr)
c.340G>A (p.Ala114Thr)
COSMIC
17g.41842232G>CCA399530606KLHL10c.604G>C (p.Ala202Pro)
c.340G>C (p.Ala114Pro)
17g.41842232G>TCA399530607KLHL10c.604G>T (p.Ala202Ser)
c.340G>T (p.Ala114Ser)
17g.41842233C>ACA399530610KLHL10c.605C>A (p.Ala202Asp)
c.341C>A (p.Ala114Asp)
17g.41842233C>GCA399530608KLHL10c.605C>G (p.Ala202Gly)
c.341C>G (p.Ala114Gly)
17g.41842233C>TCA399530609KLHL10c.605C>T (p.Ala202Val)
c.341C>T (p.Ala114Val)
17g.41842234T>ACA500208774KLHL10c.606T>A (p.Ala202=)
c.342T>A (p.Ala114=)
17g.41842234T>CCA500208775KLHL10c.606T>C (p.Ala202=)
c.342T>C (p.Ala114=)
17g.41842234T>GCA500208773KLHL10c.606T>G (p.Ala202=)
c.342T>G (p.Ala114=)
17g.41842235G>ACA8567239KLHL10c.607G>A (p.Val203Ile)
c.343G>A (p.Val115Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41842235G>CCA399530611KLHL10c.607G>C (p.Val203Leu)
c.343G>C (p.Val115Leu)
17g.41842235G=CA2260211022KLHL10c.607G= (p.Val203=)
c.343G= (p.Val115=)
17g.41842235G>TCA399530612KLHL10c.607G>T (p.Val203Leu)
c.343G>T (p.Val115Leu)
17g.41842236T>ACA399530613KLHL10c.608T>A (p.Val203Glu)
c.344T>A (p.Val115Glu)
17g.41842236T>CCA399530614KLHL10c.608T>C (p.Val203Ala)
c.344T>C (p.Val115Ala)
17g.41842236T>GCA399530615KLHL10c.608T>G (p.Val203Gly)
c.344T>G (p.Val115Gly)
17g.41842236dupCA2637874996KLHL10c.608dup (p.Phe204IlefsTer2)
c.344dup (p.Phe116IlefsTer2)
gnomAD v4
17g.41842237A>CCA500208780KLHL10c.609A>C (p.Val203=)
c.345A>C (p.Val115=)
17g.41842237A>GCA500208779KLHL10c.609A>G (p.Val203=)
c.345A>G (p.Val115=)
17g.41842237A>TCA500208782KLHL10c.609A>T (p.Val203=)
c.345A>T (p.Val115=)
17g.41842238T>ACA399530616KLHL10c.610T>A (p.Phe204Ile)
c.346T>A (p.Phe116Ile)
17g.41842238T>CCA399530617KLHL10c.610T>C (p.Phe204Leu)
c.346T>C (p.Phe116Leu)
17g.41842238T>GCA399530618KLHL10c.610T>G (p.Phe204Val)
c.346T>G (p.Phe116Val)
17g.41842239T>ACA399530619KLHL10c.611T>A (p.Phe204Tyr)
c.347T>A (p.Phe116Tyr)
17g.41842239T>CCA399530620KLHL10c.611T>C (p.Phe204Ser)
c.347T>C (p.Phe116Ser)
17g.41842239T>GCA399530621KLHL10c.611T>G (p.Phe204Cys)
c.347T>G (p.Phe116Cys)
17g.41842240T>ACA399530623KLHL10c.612T>A (p.Phe204Leu)
c.348T>A (p.Phe116Leu)
17g.41842240T>CCA500208783KLHL10c.612T>C (p.Phe204=)
c.348T>C (p.Phe116=)
17g.41842240T>GCA399530622KLHL10c.612T>G (p.Phe204Leu)
c.348T>G (p.Phe116Leu)
17g.41842241G>ACA399530624KLHL10c.613G>A (p.Glu205Lys)
c.349G>A (p.Glu117Lys)
17g.41842241G>CCA399530626KLHL10c.613G>C (p.Glu205Gln)
c.349G>C (p.Glu117Gln)
dbSNP
17g.41842241G>TCA399530625KLHL10c.613G>T (p.Glu205Ter)
c.349G>T (p.Glu117Ter)
17g.41842242A>CCA399530627KLHL10c.614A>C (p.Glu205Ala)
c.350A>C (p.Glu117Ala)
17g.41842242A>GCA399530628KLHL10c.614A>G (p.Glu205Gly)
c.350A>G (p.Glu117Gly)
17g.41842242A>TCA399530629KLHL10c.614A>T (p.Glu205Val)
c.350A>T (p.Glu117Val)
17g.41842243G>ACA500208787KLHL10c.615G>A (p.Glu205=)
c.351G>A (p.Glu117=)
gnomAD v4
17g.41842243G>CCA399530630KLHL10c.615G>C (p.Glu205Asp)
c.351G>C (p.Glu117Asp)
gnomAD v4
17g.41842243G>TCA399530631KLHL10c.615G>T (p.Glu205Asp)
c.351G>T (p.Glu117Asp)
gnomAD v4 COSMIC
17g.41842244G>ACA399530632KLHL10c.616G>A (p.Ala206Thr)
c.352G>A (p.Ala118Thr)
17g.41842244G>CCA399530633KLHL10c.616G>C (p.Ala206Pro)
c.352G>C (p.Ala118Pro)
17g.41842244G>TCA399530634KLHL10c.616G>T (p.Ala206Ser)
c.352G>T (p.Ala118Ser)
17g.41842245C>ACA399530635KLHL10c.617C>A (p.Ala206Asp)
c.353C>A (p.Ala118Asp)
17g.41842245C>GCA399530636KLHL10c.617C>G (p.Ala206Gly)
c.353C>G (p.Ala118Gly)
17g.41842245C>TCA399530637KLHL10c.617C>T (p.Ala206Val)
c.353C>T (p.Ala118Val)
17g.41842246C>ACA500208796KLHL10c.618C>A (p.Ala206=)
c.354C>A (p.Ala118=)
17g.41842246C>GCA500208794KLHL10c.618C>G (p.Ala206=)
c.354C>G (p.Ala118=)
17g.41842246C>TCA500208792KLHL10c.618C>T (p.Ala206=)
c.354C>T (p.Ala118=)
17g.41842247A=CA2260211023KLHL10c.619A= (p.Ile207=)
c.355A= (p.Ile119=)
17g.41842247A>CCA399530639KLHL10c.619A>C (p.Ile207Leu)
c.355A>C (p.Ile119Leu)
17g.41842247A>GCA290704729KLHL10c.619A>G (p.Ile207Val)
c.355A>G (p.Ile119Val)
dbSNP
17g.41842247A>TCA399530638KLHL10c.619A>T (p.Ile207Phe)
c.355A>T (p.Ile119Phe)
17g.41842248T>ACA399530640KLHL10c.620T>A (p.Ile207Asn)
c.356T>A (p.Ile119Asn)
17g.41842248T>CCA399530641KLHL10c.620T>C (p.Ile207Thr)
c.356T>C (p.Ile119Thr)
17g.41842248T>GCA399530642KLHL10c.620T>G (p.Ile207Ser)
c.356T>G (p.Ile119Ser)
17g.41842249T>ACA500208800KLHL10c.621T>A (p.Ile207=)
c.357T>A (p.Ile119=)
17g.41842249T>CCA500208798KLHL10c.621T>C (p.Ile207=)
c.357T>C (p.Ile119=)
17g.41842249T>GCA399530643KLHL10c.621T>G (p.Ile207Met)
c.357T>G (p.Ile119Met)
17g.41842250T>ACA399530644KLHL10c.622T>A (p.Leu208Ile)
c.358T>A (p.Leu120Ile)
17g.41842250T>CCA8567240KLHL10c.622T>C (p.Leu208=)
c.358T>C (p.Leu120=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41842250T>GCA399530645KLHL10c.622T>G (p.Leu208Val)
c.358T>G (p.Leu120Val)
17g.41842250T=CA2260211024KLHL10c.622T= (p.Leu208=)
c.358T= (p.Leu120=)
17g.41842251T>ACA399530646KLHL10c.623T>A (p.Leu208Ter)
c.359T>A (p.Leu120Ter)
17g.41842251T>CCA399530647KLHL10c.623T>C (p.Leu208Ser)
c.359T>C (p.Leu120Ser)
17g.41842251T>GCA399530648KLHL10c.623T>G (p.Leu208Ter)
c.359T>G (p.Leu120Ter)
17g.41842252A>CCA399530649KLHL10c.624A>C (p.Leu208Phe)
c.360A>C (p.Leu120Phe)
17g.41842252A>GCA500208805KLHL10c.624A>G (p.Leu208=)
c.360A>G (p.Leu120=)
gnomAD v4
17g.41842252A>TCA399530650KLHL10c.624A>T (p.Leu208Phe)
c.360A>T (p.Leu120Phe)
17g.41842253A>CCA399530653KLHL10c.625A>C (p.Lys209Gln)
c.361A>C (p.Lys121Gln)
17g.41842253A>GCA399530652KLHL10c.625A>G (p.Lys209Glu)
c.361A>G (p.Lys121Glu)
17g.41842253A>TCA399530651KLHL10c.625A>T (p.Lys209Ter)
c.361A>T (p.Lys121Ter)
17g.41842254A>CCA399530656KLHL10c.626A>C (p.Lys209Thr)
c.362A>C (p.Lys121Thr)
17g.41842254A>GCA399530654KLHL10c.626A>G (p.Lys209Arg)
c.362A>G (p.Lys121Arg)
17g.41842254A>TCA399530655KLHL10c.626A>T (p.Lys209Met)
c.362A>T (p.Lys121Met)
17g.41842255G>ACA8567241KLHL10c.627G>A (p.Lys209=)
c.363G>A (p.Lys121=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41842255G>CCA399530657KLHL10c.627G>C (p.Lys209Asn)
c.363G>C (p.Lys121Asn)
17g.41842255G=CA2260211025KLHL10c.627G= (p.Lys209=)
c.363G= (p.Lys121=)
17g.41842255G>TCA399530658KLHL10c.627G>T (p.Lys209Asn)
c.363G>T (p.Lys121Asn)
17g.41842256T>ACA399530661KLHL10c.628T>A (p.Trp210Arg)
c.364T>A (p.Trp122Arg)
17g.41842256T>CCA399530660KLHL10c.628T>C (p.Trp210Arg)
c.364T>C (p.Trp122Arg)
17g.41842256T>GCA399530659KLHL10c.628T>G (p.Trp210Gly)
c.364T>G (p.Trp122Gly)
17g.41842257G>ACA399530662KLHL10c.629G>A (p.Trp210Ter)
c.365G>A (p.Trp122Ter)
17g.41842257G>CCA399530663KLHL10c.629G>C (p.Trp210Ser)
c.365G>C (p.Trp122Ser)
17g.41842257G>TCA399530664KLHL10c.629G>T (p.Trp210Leu)
c.365G>T (p.Trp122Leu)
17g.41842258G>ACA399530665KLHL10c.630G>A (p.Trp210Ter)
c.366G>A (p.Trp122Ter)
17g.41842258G>CCA399530666KLHL10c.630G>C (p.Trp210Cys)
c.366G>C (p.Trp122Cys)
17g.41842258G>TCA399530667KLHL10c.630G>T (p.Trp210Cys)
c.366G>T (p.Trp122Cys)
17g.41842259A>CCA399530668KLHL10c.631A>C (p.Ile211Leu)
c.367A>C (p.Ile123Leu)
17g.41842259A>GCA399530670KLHL10c.631A>G (p.Ile211Val)
c.367A>G (p.Ile123Val)
17g.41842259A>TCA399530669KLHL10c.631A>T (p.Ile211Phe)
c.367A>T (p.Ile123Phe)
17g.41842260T>ACA399530671KLHL10c.632T>A (p.Ile211Asn)
c.368T>A (p.Ile123Asn)
17g.41842260T>CCA399530672KLHL10c.632T>C (p.Ile211Thr)
c.368T>C (p.Ile123Thr)
17g.41842260T>GCA399530673KLHL10c.632T>G (p.Ile211Ser)
c.368T>G (p.Ile123Ser)
17g.41842261T>ACA500208818KLHL10c.633T>A (p.Ile211=)
c.369T>A (p.Ile123=)
17g.41842261T>CCA500208819KLHL10c.633T>C (p.Ile211=)
c.369T>C (p.Ile123=)
17g.41842261T>GCA399530674KLHL10c.633T>G (p.Ile211Met)
c.369T>G (p.Ile123Met)
17g.41842262T>ACA399530675KLHL10c.634T>A (p.Ser212Thr)
c.370T>A (p.Ser124Thr)
17g.41842262T>CCA399530676KLHL10c.634T>C (p.Ser212Pro)
c.370T>C (p.Ser124Pro)
17g.41842262T>GCA399530677KLHL10c.634T>G (p.Ser212Ala)
c.370T>G (p.Ser124Ala)
17g.41842263C>ACA8567242KLHL10c.635C>A (p.Ser212Tyr)
c.371C>A (p.Ser124Tyr)
dbSNP ExAC gnomAD v2
17g.41842263C=CA2260211026KLHL10c.635C= (p.Ser212=)
c.371C= (p.Ser124=)
17g.41842263C>GCA399530678KLHL10c.635C>G (p.Ser212Cys)
c.371C>G (p.Ser124Cys)
17g.41842263C>TCA399530679KLHL10c.635C>T (p.Ser212Phe)
c.371C>T (p.Ser124Phe)
dbSNP
17g.41842264T>ACA500208827KLHL10c.636T>A (p.Ser212=)
c.372T>A (p.Ser124=)
17g.41842264T>CCA8567243KLHL10c.636T>C (p.Ser212=)
c.372T>C (p.Ser124=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41842264T>GCA500208824KLHL10c.636T>G (p.Ser212=)
c.372T>G (p.Ser124=)
17g.41842264T=CA2260211027KLHL10c.636T= (p.Ser212=)
c.372T= (p.Ser124=)
17g.41842265C>ACA8567245KLHL10c.637C>A (p.His213Asn)
c.373C>A (p.His125Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41842265C=CA2260211028KLHL10c.637C= (p.His213=)
c.373C= (p.His125=)
17g.41842265C>GCA399530680KLHL10c.637C>G (p.His213Asp)
c.373C>G (p.His125Asp)
17g.41842265C>TCA8567244KLHL10c.637C>T (p.His213Tyr)
c.373C>T (p.His125Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.41842266A=CA2260211029KLHL10c.638A= (p.His213=)
c.374A= (p.His125=)
17g.41842266A>CCA399530681KLHL10c.638A>C (p.His213Pro)
c.374A>C (p.His125Pro)
dbSNP gnomAD v3 gnomAD v4
17g.41842266A>GCA399530682KLHL10c.638A>G (p.His213Arg)
c.374A>G (p.His125Arg)
17g.41842266A>TCA399530683KLHL10c.638A>T (p.His213Leu)
c.374A>T (p.His125Leu)
17g.41842267T>ACA399530684KLHL10c.639T>A (p.His213Gln)
c.375T>A (p.His125Gln)
17g.41842267T>CCA500208831KLHL10c.639T>C (p.His213=)
c.375T>C (p.His125=)
17g.41842267T>GCA399530685KLHL10c.639T>G (p.His213Gln)
c.375T>G (p.His125Gln)
17g.41842268G>ACA399530686KLHL10c.640G>A (p.Asp214Asn)
c.376G>A (p.Asp126Asn)
17g.41842268G>CCA399530687KLHL10c.640G>C (p.Asp214His)
c.376G>C (p.Asp126His)
17g.41842268G>TCA399530688KLHL10c.640G>T (p.Asp214Tyr)
c.376G>T (p.Asp126Tyr)
17g.41842269A>CCA399530689KLHL10c.641A>C (p.Asp214Ala)
c.377A>C (p.Asp126Ala)
17g.41842269A>GCA399530690KLHL10c.641A>G (p.Asp214Gly)
c.377A>G (p.Asp126Gly)
17g.41842269A>TCA399530691KLHL10c.641A>T (p.Asp214Val)
c.377A>T (p.Asp126Val)
17g.41842270C>ACA399530692KLHL10c.642C>A (p.Asp214Glu)
c.378C>A (p.Asp126Glu)
dbSNP gnomAD v3 gnomAD v4
17g.41842270C=CA2260211030KLHL10c.642C= (p.Asp214=)
c.378C= (p.Asp126=)
17g.41842270C>GCA399530693KLHL10c.642C>G (p.Asp214Glu)
c.378C>G (p.Asp126Glu)
17g.41842270C>TCA8567246KLHL10c.642C>T (p.Asp214=)
c.378C>T (p.Asp126=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.41842271C>ACA399530696KLHL10c.643C>A (p.Pro215Thr)
c.379C>A (p.Pro127Thr)
17g.41842271C>GCA399530695KLHL10c.643C>G (p.Pro215Ala)
c.379C>G (p.Pro127Ala)
17g.41842271C>TCA399530694KLHL10c.643C>T (p.Pro215Ser)
c.379C>T (p.Pro127Ser)
gnomAD v4
17g.41842272C>ACA399530697KLHL10c.644C>A (p.Pro215His)
c.380C>A (p.Pro127His)
17g.41842272C>GCA399530698KLHL10c.644C>G (p.Pro215Arg)
c.380C>G (p.Pro127Arg)
17g.41842272C>TCA399530699KLHL10c.644C>T (p.Pro215Leu)
c.380C>T (p.Pro127Leu)
17g.41842273C>ACA500208613KLHL10c.645C>A (p.Pro215=)
c.381C>A (p.Pro127=)
17g.41842273C=CA2260211031KLHL10c.645C= (p.Pro215=)
c.381C= (p.Pro127=)
17g.41842273C>GCA500208612KLHL10c.645C>G (p.Pro215=)
c.381C>G (p.Pro127=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41842273C>TCA500208611KLHL10c.645C>T (p.Pro215=)
c.381C>T (p.Pro127=)
17g.41842274C>ACA399530700KLHL10c.646C>A (p.Gln216Lys)
c.382C>A (p.Gln128Lys)
dbSNP gnomAD v2 gnomAD v4
17g.41842274C=CA2260211032KLHL10c.646C= (p.Gln216=)
c.382C= (p.Gln128=)
17g.41842274C>GCA399530701KLHL10c.646C>G (p.Gln216Glu)
c.382C>G (p.Gln128Glu)
17g.41842274C>TCA399530702KLHL10c.646C>T (p.Gln216Ter)
c.382C>T (p.Gln128Ter)
17g.41842275A=CA2260211033KLHL10c.647A= (p.Gln216=)
c.383A= (p.Gln128=)
17g.41842275A>CCA130709KLHL10c.647A>C (p.Gln216Pro)
c.383A>C (p.Gln128Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41842275A>GCA399530703KLHL10c.647A>G (p.Gln216Arg)
c.383A>G (p.Gln128Arg)
17g.41842275A>TCA399530704KLHL10c.647A>T (p.Gln216Leu)
c.383A>T (p.Gln128Leu)

Number of alleles fetched