Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.127339092G>ACA127484488MEGF10c.117-28G>A (n.117-28G>A)
c.282-28G>A (n.282-28G>A)
dbSNP gnomAD v3 gnomAD v4
5g.127339092G=CA1580813877MEGF10c.117-28G= (n.117-28G=)
c.282-28G= (n.282-28G=)
5g.127339092G>TCA2578393727MEGF10c.117-28G>T (n.117-28G>T)
c.282-28G>T (n.282-28G>T)
gnomAD v4
5g.127339092_127339093insTCA2675086690MEGF10c.117-28_117-27insT (n.117-28_117-27insT)
c.282-28_282-27insT (n.282-28_282-27insT)
gnomAD v4
5g.127339093A>CCA2768313022MEGF10c.117-27A>C (n.117-27A>C)
c.282-27A>C (n.282-27A>C)
5g.127339093A>GCA2675086691MEGF10c.117-27A>G (n.117-27A>G)
c.282-27A>G (n.282-27A>G)
gnomAD v4
5g.127339094T>ACA2578393728MEGF10c.117-26T>A (n.117-26T>A)
c.282-26T>A (n.282-26T>A)
5g.127339095T>CCA127484489MEGF10c.117-25T>C (n.117-25T>C)
c.282-25T>C (n.282-25T>C)
dbSNP gnomAD v3 gnomAD v4
5g.127339095T=CA1580813878MEGF10c.117-25T= (n.117-25T=)
c.282-25T= (n.282-25T=)
5g.127339097C>ACA2675086692MEGF10c.117-23C>A (n.117-23C>A)
c.282-23C>A (n.282-23C>A)
gnomAD v4
5g.127339097C>TCA650265861MEGF10c.117-23C>T (n.117-23C>T)
c.282-23C>T (n.282-23C>T)
gnomAD v4 COSMIC
5g.127339098T>CCA1580813880MEGF10c.117-22T>C (n.117-22T>C)
c.282-22T>C (n.282-22T>C)
dbSNP gnomAD v4
5g.127339098T=CA1580813879MEGF10c.117-22T= (n.117-22T=)
c.282-22T= (n.282-22T=)
5g.127339098_127339099insCCA2675086693MEGF10c.117-22_117-21insC (n.117-22_117-21insC)
c.282-22_282-21insC (n.282-22_282-21insC)
gnomAD v4
5g.127339099T>CCA2675086694MEGF10c.117-21T>C (n.117-21T>C)
c.282-21T>C (n.282-21T>C)
gnomAD v4
5g.127339105delCA2578393729MEGF10c.117-15del (n.117-15del)
c.282-15del (n.282-15del)
gnomAD v4
5g.127339103T>ACA1580813882MEGF10c.117-17T>A (n.117-17T>A)
c.282-17T>A (n.282-17T>A)
dbSNP gnomAD v4
5g.127339103T>CCA2675086695MEGF10c.117-17T>C (n.117-17T>C)
c.282-17T>C (n.282-17T>C)
gnomAD v4
5g.127339103T=CA1580813881MEGF10c.117-17T= (n.117-17T=)
c.282-17T= (n.282-17T=)
5g.127339104T>CCA2675086696MEGF10c.117-16T>C (n.117-16T>C)
c.282-16T>C (n.282-16T>C)
gnomAD v4
5g.127339105T>CCA2675086697MEGF10c.117-15T>C (n.117-15T>C)
c.282-15T>C (n.282-15T>C)
gnomAD v4
5g.127339106C>ACA1580813884MEGF10c.117-14C>A (n.117-14C>A)
c.282-14C>A (n.282-14C>A)
dbSNP gnomAD v4
5g.127339106C=CA1580813883MEGF10c.117-14C= (n.117-14C=)
c.282-14C= (n.282-14C=)
5g.127339106C>TCA2675086698MEGF10c.117-14C>T (n.117-14C>T)
c.282-14C>T (n.282-14C>T)
gnomAD v4
5g.127339107C>ACA2675086699MEGF10c.117-13C>A (n.117-13C>A)
c.282-13C>A (n.282-13C>A)
gnomAD v4
5g.127339107C=CA1580813885MEGF10c.117-13C= (n.117-13C=)
c.282-13C= (n.282-13C=)
5g.127339107C>GCA1139659028MEGF10c.117-13C>G (n.117-13C>G)
c.282-13C>G (n.282-13C>G)
ClinVar dbSNP gnomAD v4
5g.127339107C>TCA127484490MEGF10c.117-13C>T (n.117-13C>T)
c.282-13C>T (n.282-13C>T)
dbSNP gnomAD v4
5g.127339108A=CA1580813886MEGF10c.117-12A= (n.117-12A=)
c.282-12A= (n.282-12A=)
5g.127339108A>CCA803539321MEGF10c.117-12A>C (n.117-12A>C)
c.282-12A>C (n.282-12A>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.127339108A>GCA2675086700MEGF10c.117-12A>G (n.117-12A>G)
c.282-12A>G (n.282-12A>G)
gnomAD v4
5g.127339108A>TCA2675086701MEGF10c.117-12A>T (n.117-12A>T)
c.282-12A>T (n.282-12A>T)
gnomAD v4
5g.127339109T>CCA2675086702MEGF10c.117-11T>C (n.117-11T>C)
c.282-11T>C (n.282-11T>C)
gnomAD v4
5g.127339111delCA2697546447MEGF10c.117-9del (n.117-9del)
c.282-9del (n.282-9del)
ClinVar
5g.127339110T>CCA2675086703MEGF10c.117-10T>C (n.117-10T>C)
c.282-10T>C (n.282-10T>C)
gnomAD v4
5g.127339111T>CCA2675086704MEGF10c.117-9T>C (n.117-9T>C)
c.282-9T>C (n.282-9T>C)
gnomAD v4
5g.127339112C>ACA2675086705MEGF10c.117-8C>A (n.117-8C>A)
c.282-8C>A (n.282-8C>A)
gnomAD v4
5g.127339112C=CA1580813887MEGF10c.117-8C= (n.117-8C=)
c.282-8C= (n.282-8C=)
5g.127339112C>GCA803539322MEGF10c.117-8C>G (n.117-8C>G)
c.282-8C>G (n.282-8C>G)
ClinVar dbSNP gnomAD v4
5g.127339112C>TCA645563468MEGF10c.117-8C>T (n.117-8C>T)
c.282-8C>T (n.282-8C>T)
gnomAD v4 COSMIC
5g.127339113T>CCA1580813889MEGF10c.117-7T>C (n.117-7T>C)
c.282-7T>C (n.282-7T>C)
dbSNP gnomAD v4
5g.127339113T=CA1580813888MEGF10c.117-7T= (n.117-7T=)
c.282-7T= (n.282-7T=)
5g.127339116delCA2675086706MEGF10c.117-4del (n.117-4del)
c.282-4del (n.282-4del)
gnomAD v4
5g.127339115_127339116delCA2675086707MEGF10c.117-5_117-4del (n.117-5_117-4del)
c.282-5_282-4del (n.282-5_282-4del)
gnomAD v4
5g.127339115T=CA1580813890MEGF10c.117-5T= (n.117-5T=)
c.282-5T= (n.282-5T=)
5g.127339115_127339116insCCA3391180MEGF10c.117-5_117-4insC (n.117-5_117-4insC)
c.282-5_282-4insC (n.282-5_282-4insC)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127339116T>CCA2675086708MEGF10c.117-4T>C (n.117-4T>C)
c.282-4T>C (n.282-4T>C)
gnomAD v4
5g.127339117C>ACA2675086709MEGF10c.117-3C>A (n.117-3C>A)
c.282-3C>A (n.282-3C>A)
gnomAD v4
5g.127339117C=CA1580813891MEGF10c.117-3C= (n.117-3C=)
c.282-3C= (n.282-3C=)
5g.127339117C>TCA562866128MEGF10c.117-3C>T (n.117-3C>T)
c.282-3C>T (n.282-3C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.127339118A>CCA360821978MEGF10c.117-2A>C (n.117-2A>C)
c.282-2A>C (n.282-2A>C)
5g.127339118A>GCA360821980MEGF10c.117-2A>G (n.117-2A>G)
c.282-2A>G (n.282-2A>G)
gnomAD v4
5g.127339118A>TCA360821979MEGF10c.117-2A>T (n.117-2A>T)
c.282-2A>T (n.282-2A>T)
5g.127339119G>ACA360821981MEGF10c.117-1G>A (n.117-1G>A)
c.282-1G>A (n.282-1G>A)
dbSNP gnomAD v4
5g.127339119G>CCA360821982MEGF10c.117-1G>C (n.117-1G>C)
c.282-1G>C (n.282-1G>C)
5g.127339119G=CA1580813892MEGF10c.117-1G= (n.117-1G=)
c.282-1G= (n.282-1G=)
5g.127339119G>TCA360821983MEGF10c.117-1G>T (n.117-1G>T)
c.282-1G>T (n.282-1G>T)
gnomAD v4
5g.127339120C>ACA360821984MEGF10c.117C>A (p.Ser39Arg)
c.282C>A (p.Ser94Arg)
gnomAD v4
5g.127339120C=CA1580813893MEGF10c.117C= (p.Ser39=)
c.282C= (p.Ser94=)
5g.127339120C>GCA360821985MEGF10c.117C>G (p.Ser39Arg)
c.282C>G (p.Ser94Arg)
5g.127339120C>TCA446422432MEGF10c.117C>T (p.Ser39=)
c.282C>T (p.Ser94=)
dbSNP gnomAD v3 gnomAD v4
5g.127339121T>ACA360821986MEGF10c.118T>A (p.Tyr40Asn)
c.283T>A (p.Tyr95Asn)
5g.127339121T>CCA360821987MEGF10c.118T>C (p.Tyr40His)
c.283T>C (p.Tyr95His)
gnomAD v4
5g.127339121T>GCA360821988MEGF10c.118T>G (p.Tyr40Asp)
c.283T>G (p.Tyr95Asp)
5g.127339122A>CCA360821989MEGF10c.119A>C (p.Tyr40Ser)
c.284A>C (p.Tyr95Ser)
5g.127339122A>GCA360821990MEGF10c.119A>G (p.Tyr40Cys)
c.284A>G (p.Tyr95Cys)
gnomAD v4
5g.127339122A>TCA360821991MEGF10c.119A>T (p.Tyr40Phe)
c.284A>T (p.Tyr95Phe)
5g.127339123C>ACA360821992MEGF10c.120C>A (p.Tyr40Ter)
c.285C>A (p.Tyr95Ter)
gnomAD v4
5g.127339123C=CA1580813894MEGF10c.120C= (p.Tyr40=)
c.285C= (p.Tyr95=)
5g.127339123C>GCA360821993MEGF10c.120C>G (p.Tyr40Ter)
c.285C>G (p.Tyr95Ter)
gnomAD v4
5g.127339123C>TCA3391181MEGF10c.120C>T (p.Tyr40=)
c.285C>T (p.Tyr95=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127339124T>ACA360821994MEGF10c.121T>A (p.Ser41Thr)
c.286T>A (p.Ser96Thr)
gnomAD v4 COSMIC
5g.127339124T>CCA360821996MEGF10c.121T>C (p.Ser41Pro)
c.286T>C (p.Ser96Pro)
5g.127339124T>GCA360821995MEGF10c.121T>G (p.Ser41Ala)
c.286T>G (p.Ser96Ala)
5g.127339125C>ACA360821997MEGF10c.122C>A (p.Ser41Ter)
c.287C>A (p.Ser96Ter)
gnomAD v4
5g.127339125C>GCA360821999MEGF10c.122C>G (p.Ser41Ter)
c.287C>G (p.Ser96Ter)
5g.127339125C>TCA360821998MEGF10c.122C>T (p.Ser41Leu)
c.287C>T (p.Ser96Leu)
5g.127339126A=CA1580813895MEGF10c.123A= (p.Ser41=)
c.288A= (p.Ser96=)
5g.127339126A>CCA446422436MEGF10c.123A>C (p.Ser41=)
c.288A>C (p.Ser96=)
5g.127339126A>GCA446422437MEGF10c.123A>G (p.Ser41=)
c.288A>G (p.Ser96=)
dbSNP gnomAD v2 gnomAD v4
5g.127339126A>TCA446422439MEGF10c.123A>T (p.Ser41=)
c.288A>T (p.Ser96=)
5g.127339127G>ACA360822000MEGF10c.124G>A (p.Val42Met)
c.289G>A (p.Val97Met)
dbSNP
5g.127339127G>CCA360822001MEGF10c.124G>C (p.Val42Leu)
c.289G>C (p.Val97Leu)
5g.127339127G=CA1580813896MEGF10c.124G= (p.Val42=)
c.289G= (p.Val97=)
5g.127339127G>TCA360822002MEGF10c.124G>T (p.Val42Leu)
c.289G>T (p.Val97Leu)
gnomAD v4
5g.127339128T>ACA360822003MEGF10c.125T>A (p.Val42Glu)
c.290T>A (p.Val97Glu)
5g.127339128T>CCA360822004MEGF10c.125T>C (p.Val42Ala)
c.290T>C (p.Val97Ala)
gnomAD v4
5g.127339128T>GCA360822005MEGF10c.125T>G (p.Val42Gly)
c.290T>G (p.Val97Gly)
5g.127339129G>ACA446422443MEGF10c.126G>A (p.Val42=)
c.291G>A (p.Val97=)
5g.127339129G>CCA446422444MEGF10c.126G>C (p.Val42=)
c.291G>C (p.Val97=)
5g.127339129G>TCA446422445MEGF10c.126G>T (p.Val42=)
c.291G>T (p.Val97=)
dbSNP gnomAD v4 COSMIC
5g.127339130A>CCA360822006MEGF10c.127A>C (p.Thr43Pro)
c.292A>C (p.Thr98Pro)
5g.127339130A>GCA360822007MEGF10c.127A>G (p.Thr43Ala)
c.292A>G (p.Thr98Ala)
5g.127339130A>TCA360822008MEGF10c.127A>T (p.Thr43Ser)
c.292A>T (p.Thr98Ser)
5g.127339131C>ACA360822009MEGF10c.128C>A (p.Thr43Asn)
c.293C>A (p.Thr98Asn)
gnomAD v4
5g.127339131C>GCA360822010MEGF10c.128C>G (p.Thr43Ser)
c.293C>G (p.Thr98Ser)
5g.127339131C>TCA360822011MEGF10c.128C>T (p.Thr43Ile)
c.293C>T (p.Thr98Ile)
5g.127339132T>ACA446422449MEGF10c.129T>A (p.Thr43=)
c.294T>A (p.Thr98=)
5g.127339132T>CCA3391182MEGF10c.129T>C (p.Thr43=)
c.294T>C (p.Thr98=)
ClinVar dbSNP ExAC gnomAD v2
5g.127339132T>GCA3391183MEGF10c.129T>G (p.Thr43=)
c.294T>G (p.Thr98=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.127339132T=CA1580813897MEGF10c.129T= (p.Thr43=)
c.294T= (p.Thr98=)
5g.127339134_127339135delCA915940371MEGF10c.131_132del (p.Val44AlafsTer9)
c.296_297del (p.Val99AlafsTer9)
ClinVar gnomAD v4
5g.127339133G>ACA3391184MEGF10c.130G>A (p.Val44Met)
c.295G>A (p.Val99Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127339133G>CCA360822012MEGF10c.130G>C (p.Val44Leu)
c.295G>C (p.Val99Leu)
5g.127339133G=CA1580813898MEGF10c.130G= (p.Val44=)
c.295G= (p.Val99=)
5g.127339133G>TCA360822013MEGF10c.130G>T (p.Val44Leu)
c.295G>T (p.Val99Leu)
5g.127339134T>ACA360822014MEGF10c.131T>A (p.Val44Glu)
c.296T>A (p.Val99Glu)
5g.127339134T>CCA360822015MEGF10c.131T>C (p.Val44Ala)
c.296T>C (p.Val99Ala)
5g.127339134T>GCA360822016MEGF10c.131T>G (p.Val44Gly)
c.296T>G (p.Val99Gly)
5g.127339135G>ACA446422453MEGF10c.132G>A (p.Val44=)
c.297G>A (p.Val99=)
5g.127339135G>CCA446422455MEGF10c.132G>C (p.Val44=)
c.297G>C (p.Val99=)
5g.127339135G>TCA446422454MEGF10c.132G>T (p.Val44=)
c.297G>T (p.Val99=)
5g.127339136C>ACA360822019MEGF10c.133C>A (p.Gln45Lys)
c.298C>A (p.Gln100Lys)
5g.127339136C>GCA360822017MEGF10c.133C>G (p.Gln45Glu)
c.298C>G (p.Gln100Glu)
5g.127339136C>TCA360822018MEGF10c.133C>T (p.Gln45Ter)
c.298C>T (p.Gln100Ter)
5g.127339137A=CA1580813899MEGF10c.134A= (p.Gln45=)
c.299A= (p.Gln100=)
5g.127339137A>CCA127484491MEGF10c.134A>C (p.Gln45Pro)
c.299A>C (p.Gln100Pro)
dbSNP
5g.127339137A>GCA360822020MEGF10c.134A>G (p.Gln45Arg)
c.299A>G (p.Gln100Arg)
gnomAD v4
5g.127339137A>TCA360822021MEGF10c.134A>T (p.Gln45Leu)
c.299A>T (p.Gln100Leu)
5g.127339138A>CCA360822022MEGF10c.135A>C (p.Gln45His)
c.300A>C (p.Gln100His)
5g.127339138A>GCA446422459MEGF10c.135A>G (p.Gln45=)
c.300A>G (p.Gln100=)
5g.127339138A>TCA360822023MEGF10c.135A>T (p.Gln45His)
c.300A>T (p.Gln100His)
5g.127339139G>ACA360822026MEGF10c.136G>A (p.Glu46Lys)
c.301G>A (p.Glu101Lys)
5g.127339139G>CCA360822024MEGF10c.136G>C (p.Glu46Gln)
c.301G>C (p.Glu101Gln)
gnomAD v4
5g.127339139G>TCA360822025MEGF10c.136G>T (p.Glu46Ter)
c.301G>T (p.Glu101Ter)
5g.127339140A>CCA360822027MEGF10c.137A>C (p.Glu46Ala)
c.302A>C (p.Glu101Ala)
gnomAD v4
5g.127339140A>GCA360822028MEGF10c.137A>G (p.Glu46Gly)
c.302A>G (p.Glu101Gly)
5g.127339140A>TCA360822029MEGF10c.137A>T (p.Glu46Val)
c.302A>T (p.Glu101Val)
5g.127339141G>ACA3391185MEGF10c.138G>A (p.Glu46=)
c.303G>A (p.Glu101=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127339141G>CCA360822030MEGF10c.138G>C (p.Glu46Asp)
c.303G>C (p.Glu101Asp)
5g.127339141G=CA1580813900MEGF10c.138G= (p.Glu46=)
c.303G= (p.Glu101=)
5g.127339141G>TCA360822031MEGF10c.138G>T (p.Glu46Asp)
c.303G>T (p.Glu101Asp)
5g.127339142T>ACA360822034MEGF10c.139T>A (p.Ser47Thr)
c.304T>A (p.Ser102Thr)
5g.127339142T>CCA360822033MEGF10c.139T>C (p.Ser47Pro)
c.304T>C (p.Ser102Pro)
5g.127339142T>GCA360822032MEGF10c.139T>G (p.Ser47Ala)
c.304T>G (p.Ser102Ala)
5g.127339143C>ACA360822035MEGF10c.140C>A (p.Ser47Ter)
c.305C>A (p.Ser102Ter)
dbSNP gnomAD v3 gnomAD v4
5g.127339143C=CA1580813901MEGF10c.140C= (p.Ser47=)
c.305C= (p.Ser102=)
5g.127339143C>GCA360822036MEGF10c.140C>G (p.Ser47Ter)
c.305C>G (p.Ser102Ter)
5g.127339143C>TCA360822037MEGF10c.140C>T (p.Ser47Leu)
c.305C>T (p.Ser102Leu)
gnomAD v4
5g.127339144A>CCA446422468MEGF10c.141A>C (p.Ser47=)
c.306A>C (p.Ser102=)
5g.127339144A>GCA446422467MEGF10c.141A>G (p.Ser47=)
c.306A>G (p.Ser102=)
5g.127339144A>TCA446422466MEGF10c.141A>T (p.Ser47=)
c.306A>T (p.Ser102=)
5g.127339145T>ACA360822038MEGF10c.142T>A (p.Tyr48Asn)
c.307T>A (p.Tyr103Asn)
5g.127339145T>CCA3391186MEGF10c.142T>C (p.Tyr48His)
c.307T>C (p.Tyr103His)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.127339145T>GCA360822039MEGF10c.142T>G (p.Tyr48Asp)
c.307T>G (p.Tyr103Asp)
5g.127339145T=CA1580813902MEGF10c.142T= (p.Tyr48=)
c.307T= (p.Tyr103=)
5g.127339146A>CCA360822040MEGF10c.143A>C (p.Tyr48Ser)
c.308A>C (p.Tyr103Ser)
5g.127339146A>GCA360822042MEGF10c.143A>G (p.Tyr48Cys)
c.308A>G (p.Tyr103Cys)
5g.127339146A>TCA360822041MEGF10c.143A>T (p.Tyr48Phe)
c.308A>T (p.Tyr103Phe)
5g.127339147C>ACA360822043MEGF10c.144C>A (p.Tyr48Ter)
c.309C>A (p.Tyr103Ter)
5g.127339147C>GCA360822044MEGF10c.144C>G (p.Tyr48Ter)
c.309C>G (p.Tyr103Ter)
5g.127339147C>TCA446422469MEGF10c.144C>T (p.Tyr48=)
c.309C>T (p.Tyr103=)
gnomAD v4
5g.127339148C>ACA360822045MEGF10c.145C>A (p.Pro49Thr)
c.310C>A (p.Pro104Thr)
5g.127339148C>GCA360822046MEGF10c.145C>G (p.Pro49Ala)
c.310C>G (p.Pro104Ala)
5g.127339148C>TCA360822047MEGF10c.145C>T (p.Pro49Ser)
c.310C>T (p.Pro104Ser)
5g.127339149C>ACA360822048MEGF10c.146C>A (p.Pro49Gln)
c.311C>A (p.Pro104Gln)
5g.127339149C=CA1580813903MEGF10c.146C= (p.Pro49=)
c.311C= (p.Pro104=)
5g.127339149C>GCA360822049MEGF10c.146C>G (p.Pro49Arg)
c.311C>G (p.Pro104Arg)
5g.127339149C>TCA360822050MEGF10c.146C>T (p.Pro49Leu)
c.311C>T (p.Pro104Leu)
dbSNP gnomAD v4
5g.127339150A=CA1580813904MEGF10c.147A= (p.Pro49=)
c.312A= (p.Pro104=)
5g.127339150A>CCA446422473MEGF10c.147A>C (p.Pro49=)
c.312A>C (p.Pro104=)
5g.127339150A>GCA446422474MEGF10c.147A>G (p.Pro49=)
c.312A>G (p.Pro104=)
ClinVar dbSNP
5g.127339150A>TCA446422475MEGF10c.147A>T (p.Pro49=)
c.312A>T (p.Pro104=)
5g.127339151C>ACA360822051MEGF10c.148C>A (p.His50Asn)
c.313C>A (p.His105Asn)
5g.127339151C=CA1580813905MEGF10c.148C= (p.His50=)
c.313C= (p.His105=)
5g.127339151C>GCA360822052MEGF10c.148C>G (p.His50Asp)
c.313C>G (p.His105Asp)
5g.127339151C>TCA360822053MEGF10c.148C>T (p.His50Tyr)
c.313C>T (p.His105Tyr)
dbSNP gnomAD v4
5g.127339152A=CA1580813906MEGF10c.149A= (p.His50=)
c.314A= (p.His105=)
5g.127339152A>CCA360822054MEGF10c.149A>C (p.His50Pro)
c.314A>C (p.His105Pro)
5g.127339152A>GCA360822056MEGF10c.149A>G (p.His50Arg)
c.314A>G (p.His105Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.127339152A>TCA360822055MEGF10c.149A>T (p.His50Leu)
c.314A>T (p.His105Leu)
5g.127339153T>ACA360822057MEGF10c.150T>A (p.His50Gln)
c.315T>A (p.His105Gln)
5g.127339153T>CCA446422479MEGF10c.150T>C (p.His50=)
c.315T>C (p.His105=)
5g.127339153T>GCA360822058MEGF10c.150T>G (p.His50Gln)
c.315T>G (p.His105Gln)
5g.127339154C>ACA360822059MEGF10c.151C>A (p.Pro51Thr)
c.316C>A (p.Pro106Thr)
5g.127339154C=CA1580813907MEGF10c.151C= (p.Pro51=)
c.316C= (p.Pro106=)
5g.127339154C>GCA360822060MEGF10c.151C>G (p.Pro51Ala)
c.316C>G (p.Pro106Ala)
5g.127339154C>TCA360822061MEGF10c.151C>T (p.Pro51Ser)
c.316C>T (p.Pro106Ser)
dbSNP
5g.127339155C>ACA360822062MEGF10c.152C>A (p.Pro51His)
c.317C>A (p.Pro106His)
gnomAD v4
5g.127339155C>GCA360822063MEGF10c.152C>G (p.Pro51Arg)
c.317C>G (p.Pro106Arg)
5g.127339155C>TCA360822064MEGF10c.152C>T (p.Pro51Leu)
c.317C>T (p.Pro106Leu)
5g.127339156C>ACA446422484MEGF10c.153C>A (p.Pro51=)
c.318C>A (p.Pro106=)
5g.127339156C=CA1580813908MEGF10c.153C= (p.Pro51=)
c.318C= (p.Pro106=)
5g.127339156C>GCA446422486MEGF10c.153C>G (p.Pro51=)
c.318C>G (p.Pro106=)
dbSNP gnomAD v2 gnomAD v4
5g.127339156C>TCA3391187MEGF10c.153C>T (p.Pro51=)
c.318C>T (p.Pro106=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.127339157T>ACA360822065MEGF10c.154T>A (p.Phe52Ile)
c.319T>A (p.Phe107Ile)
5g.127339157T>CCA360822066MEGF10c.154T>C (p.Phe52Leu)
c.319T>C (p.Phe107Leu)
5g.127339157T>GCA360822067MEGF10c.154T>G (p.Phe52Val)
c.319T>G (p.Phe107Val)
5g.127339158T>ACA360822068MEGF10c.155T>A (p.Phe52Tyr)
c.320T>A (p.Phe107Tyr)
5g.127339158T>CCA360822069MEGF10c.155T>C (p.Phe52Ser)
c.320T>C (p.Phe107Ser)
5g.127339158T>GCA360822070MEGF10c.155T>G (p.Phe52Cys)
c.320T>G (p.Phe107Cys)
5g.127339159T>ACA360822072MEGF10c.156T>A (p.Phe52Leu)
c.321T>A (p.Phe107Leu)
5g.127339159T>CCA10586894MEGF10c.156T>C (p.Phe52=)
c.321T>C (p.Phe107=)
ClinVar dbSNP
5g.127339159T>GCA360822071MEGF10c.156T>G (p.Phe52Leu)
c.321T>G (p.Phe107Leu)
5g.127339159T=CA1580813909MEGF10c.156T= (p.Phe52=)
c.321T= (p.Phe107=)
5g.127339160G>ACA360822073MEGF10c.157G>A (p.Asp53Asn)
c.322G>A (p.Asp108Asn)
gnomAD v4
5g.127339160G>CCA360822074MEGF10c.157G>C (p.Asp53His)
c.322G>C (p.Asp108His)
5g.127339160G=CA1580813910MEGF10c.157G= (p.Asp53=)
c.322G= (p.Asp108=)
5g.127339160G>TCA3391188MEGF10c.157G>T (p.Asp53Tyr)
c.322G>T (p.Asp108Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127339161A>CCA360822075MEGF10c.158A>C (p.Asp53Ala)
c.323A>C (p.Asp108Ala)
5g.127339161A>GCA360822076MEGF10c.158A>G (p.Asp53Gly)
c.323A>G (p.Asp108Gly)
5g.127339161A>TCA360822077MEGF10c.158A>T (p.Asp53Val)
c.323A>T (p.Asp108Val)
5g.127339162T>ACA360822078MEGF10c.159T>A (p.Asp53Glu)
c.324T>A (p.Asp108Glu)
5g.127339162T>CCA446422515MEGF10c.159T>C (p.Asp53=)
c.324T>C (p.Asp108=)
dbSNP gnomAD v4
5g.127339162T>GCA360822079MEGF10c.159T>G (p.Asp53Glu)
c.324T>G (p.Asp108Glu)
5g.127339162T=CA1580813911MEGF10c.159T= (p.Asp53=)
c.324T= (p.Asp108=)
5g.127339163C>ACA360822080MEGF10c.160C>A (p.Gln54Lys)
c.325C>A (p.Gln109Lys)
ClinVar dbSNP gnomAD v4
5g.127339163C=CA1580813912MEGF10c.160C= (p.Gln54=)
c.325C= (p.Gln109=)
5g.127339163C>GCA360822081MEGF10c.160C>G (p.Gln54Glu)
c.325C>G (p.Gln109Glu)
5g.127339163C>TCA360822082MEGF10c.160C>T (p.Gln54Ter)
c.325C>T (p.Gln109Ter)
5g.127339164A>CCA360822085MEGF10c.161A>C (p.Gln54Pro)
c.326A>C (p.Gln109Pro)
5g.127339164A>GCA360822084MEGF10c.161A>G (p.Gln54Arg)
c.326A>G (p.Gln109Arg)
5g.127339164A>TCA360822083MEGF10c.161A>T (p.Gln54Leu)
c.326A>T (p.Gln109Leu)
5g.127339165A=CA1580813913MEGF10c.162A= (p.Gln54=)
c.327A= (p.Gln109=)
5g.127339165A>CCA360822086MEGF10c.162A>C (p.Gln54His)
c.327A>C (p.Gln109His)
5g.127339165A>GCA3391189MEGF10c.162A>G (p.Gln54=)
c.327A>G (p.Gln109=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.127339165A>TCA360822087MEGF10c.162A>T (p.Gln54His)
c.327A>T (p.Gln109His)
gnomAD v4
5g.127339166A>CCA360822088MEGF10c.163A>C (p.Ile55Leu)
c.328A>C (p.Ile110Leu)
5g.127339166A>GCA360822089MEGF10c.163A>G (p.Ile55Val)
c.328A>G (p.Ile110Val)
5g.127339166A>TCA360822090MEGF10c.163A>T (p.Ile55Phe)
c.328A>T (p.Ile110Phe)
5g.127339167T>ACA360822091MEGF10c.164T>A (p.Ile55Asn)
c.329T>A (p.Ile110Asn)
5g.127339167T>CCA360822092MEGF10c.164T>C (p.Ile55Thr)
c.329T>C (p.Ile110Thr)
5g.127339167T>GCA360822093MEGF10c.164T>G (p.Ile55Ser)
c.329T>G (p.Ile110Ser)
5g.127339168T>ACA446422555MEGF10c.165T>A (p.Ile55=)
c.330T>A (p.Ile110=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.127339168T>CCA127484492MEGF10c.165T>C (p.Ile55=)
c.330T>C (p.Ile110=)
dbSNP gnomAD v2 gnomAD v4
5g.127339168T>GCA360822094MEGF10c.165T>G (p.Ile55Met)
c.330T>G (p.Ile110Met)
5g.127339168T=CA1580813914MEGF10c.165T= (p.Ile55=)
c.330T= (p.Ile110=)
5g.127339169T>ACA360822095MEGF10c.166T>A (p.Tyr56Asn)
c.331T>A (p.Tyr111Asn)
5g.127339169T>CCA360822096MEGF10c.166T>C (p.Tyr56His)
c.331T>C (p.Tyr111His)
5g.127339169T>GCA360822097MEGF10c.166T>G (p.Tyr56Asp)
c.331T>G (p.Tyr111Asp)
5g.127339170A>CCA360822100MEGF10c.167A>C (p.Tyr56Ser)
c.332A>C (p.Tyr111Ser)
5g.127339170A>GCA360822098MEGF10c.167A>G (p.Tyr56Cys)
c.332A>G (p.Tyr111Cys)
5g.127339170A>TCA360822099MEGF10c.167A>T (p.Tyr56Phe)
c.332A>T (p.Tyr111Phe)
5g.127339171C>ACA360822101MEGF10c.168C>A (p.Tyr56Ter)
c.333C>A (p.Tyr111Ter)
5g.127339171C=CA1580813915MEGF10c.168C= (p.Tyr56=)
c.333C= (p.Tyr111=)
5g.127339171C>GCA360822102MEGF10c.168C>G (p.Tyr56Ter)
c.333C>G (p.Tyr111Ter)
5g.127339171C>TCA446422559MEGF10c.168C>T (p.Tyr56=)
c.333C>T (p.Tyr111=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.127339172T>ACA360822103MEGF10c.169T>A (p.Tyr57Asn)
c.334T>A (p.Tyr112Asn)
5g.127339172T>CCA360822104MEGF10c.169T>C (p.Tyr57His)
c.334T>C (p.Tyr112His)
5g.127339172T>GCA360822105MEGF10c.169T>G (p.Tyr57Asp)
c.334T>G (p.Tyr112Asp)
5g.127339173A=CA1580813916MEGF10c.170A= (p.Tyr57=)
c.335A= (p.Tyr112=)
5g.127339173A>CCA360822106MEGF10c.170A>C (p.Tyr57Ser)
c.335A>C (p.Tyr112Ser)
5g.127339173A>GCA360822107MEGF10c.170A>G (p.Tyr57Cys)
c.335A>G (p.Tyr112Cys)
dbSNP
5g.127339173A>TCA360822108MEGF10c.170A>T (p.Tyr57Phe)
c.335A>T (p.Tyr112Phe)
5g.127339174C>ACA360822109MEGF10c.171C>A (p.Tyr57Ter)
c.336C>A (p.Tyr112Ter)
5g.127339174C=CA1580813917MEGF10c.171C= (p.Tyr57=)
c.336C= (p.Tyr112=)
5g.127339174C>GCA360822110MEGF10c.171C>G (p.Tyr57Ter)
c.336C>G (p.Tyr112Ter)
5g.127339174C>TCA127484493MEGF10c.171C>T (p.Tyr57=)
c.336C>T (p.Tyr112=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.127339175A>CCA360822111MEGF10c.172A>C (p.Thr58Pro)
c.337A>C (p.Thr113Pro)
5g.127339175A>GCA360822113MEGF10c.172A>G (p.Thr58Ala)
c.337A>G (p.Thr113Ala)
5g.127339175A>TCA360822112MEGF10c.172A>T (p.Thr58Ser)
c.337A>T (p.Thr113Ser)
dbSNP
5g.127339176C>ACA360822114MEGF10c.173C>A (p.Thr58Lys)
c.338C>A (p.Thr113Lys)
5g.127339176C=CA1580813918MEGF10c.173C= (p.Thr58=)
c.338C= (p.Thr113=)
5g.127339176C>GCA360822115MEGF10c.173C>G (p.Thr58Arg)
c.338C>G (p.Thr113Arg)
5g.127339176C>TCA127484494MEGF10c.173C>T (p.Thr58Met)
c.338C>T (p.Thr113Met)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.127339177G>ACA3391190MEGF10c.174G>A (p.Thr58=)
c.339G>A (p.Thr113=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127339177G>CCA446422579MEGF10c.174G>C (p.Thr58=)
c.339G>C (p.Thr113=)
5g.127339177G=CA1580813919MEGF10c.174G= (p.Thr58=)
c.339G= (p.Thr113=)
5g.127339177G>TCA3391191MEGF10c.174G>T (p.Thr58=)
c.339G>T (p.Thr113=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127339178A>CCA360822116MEGF10c.175A>C (p.Ser59Arg)
c.340A>C (p.Ser114Arg)
5g.127339178A>GCA360822117MEGF10c.175A>G (p.Ser59Gly)
c.340A>G (p.Ser114Gly)
5g.127339178A>TCA360822118MEGF10c.175A>T (p.Ser59Cys)
c.340A>T (p.Ser114Cys)
5g.127339179G>ACA360822119MEGF10c.176G>A (p.Ser59Asn)
c.341G>A (p.Ser114Asn)
5g.127339179G>CCA360822120MEGF10c.176G>C (p.Ser59Thr)
c.341G>C (p.Ser114Thr)
5g.127339179G>TCA360822121MEGF10c.176G>T (p.Ser59Ile)
c.341G>T (p.Ser114Ile)
5g.127339180C>ACA360822122MEGF10c.177C>A (p.Ser59Arg)
c.342C>A (p.Ser114Arg)
5g.127339180C>GCA360822123MEGF10c.177C>G (p.Ser59Arg)
c.342C>G (p.Ser114Arg)
5g.127339180C>TCA446422590MEGF10c.177C>T (p.Ser59=)
c.342C>T (p.Ser114=)
5g.127339181T>ACA360822126MEGF10c.178T>A (p.Cys60Ser)
c.343T>A (p.Cys115Ser)
5g.127339181T>CCA360822125MEGF10c.178T>C (p.Cys60Arg)
c.343T>C (p.Cys115Arg)
5g.127339181T>GCA360822124MEGF10c.178T>G (p.Cys60Gly)
c.343T>G (p.Cys115Gly)
5g.127339182G>ACA360822127MEGF10c.179G>A (p.Cys60Tyr)
c.344G>A (p.Cys115Tyr)
5g.127339182G>CCA360822128MEGF10c.179G>C (p.Cys60Ser)
c.344G>C (p.Cys115Ser)
gnomAD v4
5g.127339182G>TCA360822129MEGF10c.179G>T (p.Cys60Phe)
c.344G>T (p.Cys115Phe)
5g.127339183C>ACA360822130MEGF10c.180C>A (p.Cys60Ter)
c.345C>A (p.Cys115Ter)
5g.127339183C>GCA360822131MEGF10c.180C>G (p.Cys60Trp)
c.345C>G (p.Cys115Trp)
5g.127339183C>TCA446422601MEGF10c.180C>T (p.Cys60=)
c.345C>T (p.Cys115=)
5g.127339184A=CA1580813920MEGF10c.181A= (p.Thr61=)
c.346A= (p.Thr116=)
5g.127339184A>CCA360822132MEGF10c.181A>C (p.Thr61Pro)
c.346A>C (p.Thr116Pro)
gnomAD v4
5g.127339184A>GCA360822133MEGF10c.181A>G (p.Thr61Ala)
c.346A>G (p.Thr116Ala)
dbSNP
5g.127339184A>TCA360822134MEGF10c.181A>T (p.Thr61Ser)
c.346A>T (p.Thr116Ser)
5g.127339185C>ACA360822135MEGF10c.182C>A (p.Thr61Asn)
c.347C>A (p.Thr116Asn)
5g.127339185C>GCA360822136MEGF10c.182C>G (p.Thr61Ser)
c.347C>G (p.Thr116Ser)
gnomAD v4
5g.127339185C>TCA360822137MEGF10c.182C>T (p.Thr61Ile)
c.347C>T (p.Thr116Ile)
gnomAD v4
5g.127339186T>ACA446422606MEGF10c.183T>A (p.Thr61=)
c.348T>A (p.Thr116=)
5g.127339186T>CCA446422604MEGF10c.183T>C (p.Thr61=)
c.348T>C (p.Thr116=)
ClinVar dbSNP gnomAD v4
5g.127339186T>GCA446422603MEGF10c.183T>G (p.Thr61=)
c.348T>G (p.Thr116=)
5g.127339186T=CA1580813921MEGF10c.183T= (p.Thr61=)
c.348T= (p.Thr116=)
5g.127339187G>ACA360822138MEGF10c.184G>A (p.Asp62Asn)
c.349G>A (p.Asp117Asn)
5g.127339187G>CCA360822139MEGF10c.184G>C (p.Asp62His)
c.349G>C (p.Asp117His)
dbSNP
5g.127339187G=CA1580813922MEGF10c.184G= (p.Asp62=)
c.349G= (p.Asp117=)
5g.127339187G>TCA360822140MEGF10c.184G>T (p.Asp62Tyr)
c.349G>T (p.Asp117Tyr)
5g.127339188A>CCA360822143MEGF10c.185A>C (p.Asp62Ala)
c.350A>C (p.Asp117Ala)
5g.127339188A>GCA360822142MEGF10c.185A>G (p.Asp62Gly)
c.350A>G (p.Asp117Gly)
ClinVar
5g.127339188A>TCA360822141MEGF10c.185A>T (p.Asp62Val)
c.350A>T (p.Asp117Val)
5g.127339189C>ACA360822144MEGF10c.186C>A (p.Asp62Glu)
c.351C>A (p.Asp117Glu)
5g.127339189C=CA1580813923MEGF10c.186C= (p.Asp62=)
c.351C= (p.Asp117=)
5g.127339189C>GCA360822145MEGF10c.186C>G (p.Asp62Glu)
c.351C>G (p.Asp117Glu)
5g.127339189C>TCA127484495MEGF10c.186C>T (p.Asp62=)
c.351C>T (p.Asp117=)
dbSNP
5g.127339190A>CCA360822146MEGF10c.187A>C (p.Ile63Leu)
c.352A>C (p.Ile118Leu)
5g.127339190A>GCA360822147MEGF10c.187A>G (p.Ile63Val)
c.352A>G (p.Ile118Val)
gnomAD v4
5g.127339190A>TCA360822148MEGF10c.187A>T (p.Ile63Phe)
c.352A>T (p.Ile118Phe)
5g.127339190_127339203delinsATTCTAAACTGGTTCA1580813924MEGF10c.187_200delinsATTCTAAACTGGTT (p.Ile63=)
c.352_365delinsATTCTAAACTGGTT (p.Ile118=)
5g.127339191T>ACA360822151MEGF10c.188T>A (p.Ile63Asn)
c.353T>A (p.Ile118Asn)
5g.127339191T>CCA360822150MEGF10c.188T>C (p.Ile63Thr)
c.353T>C (p.Ile118Thr)
5g.127339191T>GCA360822149MEGF10c.188T>G (p.Ile63Ser)
c.353T>G (p.Ile118Ser)
5g.127339192_127339204delCA1580813925MEGF10c.189_201del (p.Leu64AsnfsTer?)
c.354_366del (p.Leu119AsnfsTer?)
dbSNP
5g.127339192T>ACA446422621MEGF10c.189T>A (p.Ile63=)
c.354T>A (p.Ile118=)
5g.127339192T>CCA446422622MEGF10c.189T>C (p.Ile63=)
c.354T>C (p.Ile118=)
5g.127339192T>GCA360822152MEGF10c.189T>G (p.Ile63Met)
c.354T>G (p.Ile118Met)

Number of alleles fetched