Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.127339092G>A | CA127484488 | MEGF10 | c.117-28G>A (n.117-28G>A) c.282-28G>A (n.282-28G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127339092G= | CA1580813877 | MEGF10 | c.117-28G= (n.117-28G=) c.282-28G= (n.282-28G=) | |
5 | g.127339092G>T | CA2578393727 | MEGF10 | c.117-28G>T (n.117-28G>T) c.282-28G>T (n.282-28G>T) | gnomAD v4 |
5 | g.127339092_127339093insT | CA2675086690 | MEGF10 | c.117-28_117-27insT (n.117-28_117-27insT) c.282-28_282-27insT (n.282-28_282-27insT) | gnomAD v4 |
5 | g.127339093A>C | CA2768313022 | MEGF10 | c.117-27A>C (n.117-27A>C) c.282-27A>C (n.282-27A>C) | |
5 | g.127339093A>G | CA2675086691 | MEGF10 | c.117-27A>G (n.117-27A>G) c.282-27A>G (n.282-27A>G) | gnomAD v4 |
5 | g.127339094T>A | CA2578393728 | MEGF10 | c.117-26T>A (n.117-26T>A) c.282-26T>A (n.282-26T>A) | |
5 | g.127339095T>C | CA127484489 | MEGF10 | c.117-25T>C (n.117-25T>C) c.282-25T>C (n.282-25T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127339095T= | CA1580813878 | MEGF10 | c.117-25T= (n.117-25T=) c.282-25T= (n.282-25T=) | |
5 | g.127339097C>A | CA2675086692 | MEGF10 | c.117-23C>A (n.117-23C>A) c.282-23C>A (n.282-23C>A) | gnomAD v4 |
5 | g.127339097C>T | CA650265861 | MEGF10 | c.117-23C>T (n.117-23C>T) c.282-23C>T (n.282-23C>T) | gnomAD v4 COSMIC |
5 | g.127339098T>C | CA1580813880 | MEGF10 | c.117-22T>C (n.117-22T>C) c.282-22T>C (n.282-22T>C) | dbSNP gnomAD v4 |
5 | g.127339098T= | CA1580813879 | MEGF10 | c.117-22T= (n.117-22T=) c.282-22T= (n.282-22T=) | |
5 | g.127339098_127339099insC | CA2675086693 | MEGF10 | c.117-22_117-21insC (n.117-22_117-21insC) c.282-22_282-21insC (n.282-22_282-21insC) | gnomAD v4 |
5 | g.127339099T>C | CA2675086694 | MEGF10 | c.117-21T>C (n.117-21T>C) c.282-21T>C (n.282-21T>C) | gnomAD v4 |
5 | g.127339105del | CA2578393729 | MEGF10 | c.117-15del (n.117-15del) c.282-15del (n.282-15del) | gnomAD v4 |
5 | g.127339103T>A | CA1580813882 | MEGF10 | c.117-17T>A (n.117-17T>A) c.282-17T>A (n.282-17T>A) | dbSNP gnomAD v4 |
5 | g.127339103T>C | CA2675086695 | MEGF10 | c.117-17T>C (n.117-17T>C) c.282-17T>C (n.282-17T>C) | gnomAD v4 |
5 | g.127339103T= | CA1580813881 | MEGF10 | c.117-17T= (n.117-17T=) c.282-17T= (n.282-17T=) | |
5 | g.127339104T>C | CA2675086696 | MEGF10 | c.117-16T>C (n.117-16T>C) c.282-16T>C (n.282-16T>C) | gnomAD v4 |
5 | g.127339105T>C | CA2675086697 | MEGF10 | c.117-15T>C (n.117-15T>C) c.282-15T>C (n.282-15T>C) | gnomAD v4 |
5 | g.127339106C>A | CA1580813884 | MEGF10 | c.117-14C>A (n.117-14C>A) c.282-14C>A (n.282-14C>A) | dbSNP gnomAD v4 |
5 | g.127339106C= | CA1580813883 | MEGF10 | c.117-14C= (n.117-14C=) c.282-14C= (n.282-14C=) | |
5 | g.127339106C>T | CA2675086698 | MEGF10 | c.117-14C>T (n.117-14C>T) c.282-14C>T (n.282-14C>T) | gnomAD v4 |
5 | g.127339107C>A | CA2675086699 | MEGF10 | c.117-13C>A (n.117-13C>A) c.282-13C>A (n.282-13C>A) | gnomAD v4 |
5 | g.127339107C= | CA1580813885 | MEGF10 | c.117-13C= (n.117-13C=) c.282-13C= (n.282-13C=) | |
5 | g.127339107C>G | CA1139659028 | MEGF10 | c.117-13C>G (n.117-13C>G) c.282-13C>G (n.282-13C>G) | ClinVar dbSNP gnomAD v4 |
5 | g.127339107C>T | CA127484490 | MEGF10 | c.117-13C>T (n.117-13C>T) c.282-13C>T (n.282-13C>T) | dbSNP gnomAD v4 |
5 | g.127339108A= | CA1580813886 | MEGF10 | c.117-12A= (n.117-12A=) c.282-12A= (n.282-12A=) | |
5 | g.127339108A>C | CA803539321 | MEGF10 | c.117-12A>C (n.117-12A>C) c.282-12A>C (n.282-12A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.127339108A>G | CA2675086700 | MEGF10 | c.117-12A>G (n.117-12A>G) c.282-12A>G (n.282-12A>G) | gnomAD v4 |
5 | g.127339108A>T | CA2675086701 | MEGF10 | c.117-12A>T (n.117-12A>T) c.282-12A>T (n.282-12A>T) | gnomAD v4 |
5 | g.127339109T>C | CA2675086702 | MEGF10 | c.117-11T>C (n.117-11T>C) c.282-11T>C (n.282-11T>C) | gnomAD v4 |
5 | g.127339111del | CA2697546447 | MEGF10 | c.117-9del (n.117-9del) c.282-9del (n.282-9del) | ClinVar |
5 | g.127339110T>C | CA2675086703 | MEGF10 | c.117-10T>C (n.117-10T>C) c.282-10T>C (n.282-10T>C) | gnomAD v4 |
5 | g.127339111T>C | CA2675086704 | MEGF10 | c.117-9T>C (n.117-9T>C) c.282-9T>C (n.282-9T>C) | gnomAD v4 |
5 | g.127339112C>A | CA2675086705 | MEGF10 | c.117-8C>A (n.117-8C>A) c.282-8C>A (n.282-8C>A) | gnomAD v4 |
5 | g.127339112C= | CA1580813887 | MEGF10 | c.117-8C= (n.117-8C=) c.282-8C= (n.282-8C=) | |
5 | g.127339112C>G | CA803539322 | MEGF10 | c.117-8C>G (n.117-8C>G) c.282-8C>G (n.282-8C>G) | ClinVar dbSNP gnomAD v4 |
5 | g.127339112C>T | CA645563468 | MEGF10 | c.117-8C>T (n.117-8C>T) c.282-8C>T (n.282-8C>T) | gnomAD v4 COSMIC |
5 | g.127339113T>C | CA1580813889 | MEGF10 | c.117-7T>C (n.117-7T>C) c.282-7T>C (n.282-7T>C) | dbSNP gnomAD v4 |
5 | g.127339113T= | CA1580813888 | MEGF10 | c.117-7T= (n.117-7T=) c.282-7T= (n.282-7T=) | |
5 | g.127339116del | CA2675086706 | MEGF10 | c.117-4del (n.117-4del) c.282-4del (n.282-4del) | gnomAD v4 |
5 | g.127339115_127339116del | CA2675086707 | MEGF10 | c.117-5_117-4del (n.117-5_117-4del) c.282-5_282-4del (n.282-5_282-4del) | gnomAD v4 |
5 | g.127339115T= | CA1580813890 | MEGF10 | c.117-5T= (n.117-5T=) c.282-5T= (n.282-5T=) | |
5 | g.127339115_127339116insC | CA3391180 | MEGF10 | c.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 |
5 | g.127339116T>C | CA2675086708 | MEGF10 | c.117-4T>C (n.117-4T>C) c.282-4T>C (n.282-4T>C) | gnomAD v4 |
5 | g.127339117C>A | CA2675086709 | MEGF10 | c.117-3C>A (n.117-3C>A) c.282-3C>A (n.282-3C>A) | gnomAD v4 |
5 | g.127339117C= | CA1580813891 | MEGF10 | c.117-3C= (n.117-3C=) c.282-3C= (n.282-3C=) | |
5 | g.127339117C>T | CA562866128 | MEGF10 | c.117-3C>T (n.117-3C>T) c.282-3C>T (n.282-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.127339118A>C | CA360821978 | MEGF10 | c.117-2A>C (n.117-2A>C) c.282-2A>C (n.282-2A>C) | |
5 | g.127339118A>G | CA360821980 | MEGF10 | c.117-2A>G (n.117-2A>G) c.282-2A>G (n.282-2A>G) | gnomAD v4 |
5 | g.127339118A>T | CA360821979 | MEGF10 | c.117-2A>T (n.117-2A>T) c.282-2A>T (n.282-2A>T) | |
5 | g.127339119G>A | CA360821981 | MEGF10 | c.117-1G>A (n.117-1G>A) c.282-1G>A (n.282-1G>A) | dbSNP gnomAD v4 |
5 | g.127339119G>C | CA360821982 | MEGF10 | c.117-1G>C (n.117-1G>C) c.282-1G>C (n.282-1G>C) | |
5 | g.127339119G= | CA1580813892 | MEGF10 | c.117-1G= (n.117-1G=) c.282-1G= (n.282-1G=) | |
5 | g.127339119G>T | CA360821983 | MEGF10 | c.117-1G>T (n.117-1G>T) c.282-1G>T (n.282-1G>T) | gnomAD v4 |
5 | g.127339120C>A | CA360821984 | MEGF10 | c.117C>A (p.Ser39Arg) c.282C>A (p.Ser94Arg) | gnomAD v4 |
5 | g.127339120C= | CA1580813893 | MEGF10 | c.117C= (p.Ser39=) c.282C= (p.Ser94=) | |
5 | g.127339120C>G | CA360821985 | MEGF10 | c.117C>G (p.Ser39Arg) c.282C>G (p.Ser94Arg) | |
5 | g.127339120C>T | CA446422432 | MEGF10 | c.117C>T (p.Ser39=) c.282C>T (p.Ser94=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127339121T>A | CA360821986 | MEGF10 | c.118T>A (p.Tyr40Asn) c.283T>A (p.Tyr95Asn) | |
5 | g.127339121T>C | CA360821987 | MEGF10 | c.118T>C (p.Tyr40His) c.283T>C (p.Tyr95His) | gnomAD v4 |
5 | g.127339121T>G | CA360821988 | MEGF10 | c.118T>G (p.Tyr40Asp) c.283T>G (p.Tyr95Asp) | |
5 | g.127339122A>C | CA360821989 | MEGF10 | c.119A>C (p.Tyr40Ser) c.284A>C (p.Tyr95Ser) | |
5 | g.127339122A>G | CA360821990 | MEGF10 | c.119A>G (p.Tyr40Cys) c.284A>G (p.Tyr95Cys) | gnomAD v4 |
5 | g.127339122A>T | CA360821991 | MEGF10 | c.119A>T (p.Tyr40Phe) c.284A>T (p.Tyr95Phe) | |
5 | g.127339123C>A | CA360821992 | MEGF10 | c.120C>A (p.Tyr40Ter) c.285C>A (p.Tyr95Ter) | gnomAD v4 |
5 | g.127339123C= | CA1580813894 | MEGF10 | c.120C= (p.Tyr40=) c.285C= (p.Tyr95=) | |
5 | g.127339123C>G | CA360821993 | MEGF10 | c.120C>G (p.Tyr40Ter) c.285C>G (p.Tyr95Ter) | gnomAD v4 |
5 | g.127339123C>T | CA3391181 | MEGF10 | c.120C>T (p.Tyr40=) c.285C>T (p.Tyr95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127339124T>A | CA360821994 | MEGF10 | c.121T>A (p.Ser41Thr) c.286T>A (p.Ser96Thr) | gnomAD v4 COSMIC |
5 | g.127339124T>C | CA360821996 | MEGF10 | c.121T>C (p.Ser41Pro) c.286T>C (p.Ser96Pro) | |
5 | g.127339124T>G | CA360821995 | MEGF10 | c.121T>G (p.Ser41Ala) c.286T>G (p.Ser96Ala) | |
5 | g.127339125C>A | CA360821997 | MEGF10 | c.122C>A (p.Ser41Ter) c.287C>A (p.Ser96Ter) | gnomAD v4 |
5 | g.127339125C>G | CA360821999 | MEGF10 | c.122C>G (p.Ser41Ter) c.287C>G (p.Ser96Ter) | |
5 | g.127339125C>T | CA360821998 | MEGF10 | c.122C>T (p.Ser41Leu) c.287C>T (p.Ser96Leu) | |
5 | g.127339126A= | CA1580813895 | MEGF10 | c.123A= (p.Ser41=) c.288A= (p.Ser96=) | |
5 | g.127339126A>C | CA446422436 | MEGF10 | c.123A>C (p.Ser41=) c.288A>C (p.Ser96=) | |
5 | g.127339126A>G | CA446422437 | MEGF10 | c.123A>G (p.Ser41=) c.288A>G (p.Ser96=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127339126A>T | CA446422439 | MEGF10 | c.123A>T (p.Ser41=) c.288A>T (p.Ser96=) | |
5 | g.127339127G>A | CA360822000 | MEGF10 | c.124G>A (p.Val42Met) c.289G>A (p.Val97Met) | dbSNP |
5 | g.127339127G>C | CA360822001 | MEGF10 | c.124G>C (p.Val42Leu) c.289G>C (p.Val97Leu) | |
5 | g.127339127G= | CA1580813896 | MEGF10 | c.124G= (p.Val42=) c.289G= (p.Val97=) | |
5 | g.127339127G>T | CA360822002 | MEGF10 | c.124G>T (p.Val42Leu) c.289G>T (p.Val97Leu) | gnomAD v4 |
5 | g.127339128T>A | CA360822003 | MEGF10 | c.125T>A (p.Val42Glu) c.290T>A (p.Val97Glu) | |
5 | g.127339128T>C | CA360822004 | MEGF10 | c.125T>C (p.Val42Ala) c.290T>C (p.Val97Ala) | gnomAD v4 |
5 | g.127339128T>G | CA360822005 | MEGF10 | c.125T>G (p.Val42Gly) c.290T>G (p.Val97Gly) | |
5 | g.127339129G>A | CA446422443 | MEGF10 | c.126G>A (p.Val42=) c.291G>A (p.Val97=) | |
5 | g.127339129G>C | CA446422444 | MEGF10 | c.126G>C (p.Val42=) c.291G>C (p.Val97=) | |
5 | g.127339129G>T | CA446422445 | MEGF10 | c.126G>T (p.Val42=) c.291G>T (p.Val97=) | dbSNP gnomAD v4 COSMIC |
5 | g.127339130A>C | CA360822006 | MEGF10 | c.127A>C (p.Thr43Pro) c.292A>C (p.Thr98Pro) | |
5 | g.127339130A>G | CA360822007 | MEGF10 | c.127A>G (p.Thr43Ala) c.292A>G (p.Thr98Ala) | |
5 | g.127339130A>T | CA360822008 | MEGF10 | c.127A>T (p.Thr43Ser) c.292A>T (p.Thr98Ser) | |
5 | g.127339131C>A | CA360822009 | MEGF10 | c.128C>A (p.Thr43Asn) c.293C>A (p.Thr98Asn) | gnomAD v4 |
5 | g.127339131C>G | CA360822010 | MEGF10 | c.128C>G (p.Thr43Ser) c.293C>G (p.Thr98Ser) | |
5 | g.127339131C>T | CA360822011 | MEGF10 | c.128C>T (p.Thr43Ile) c.293C>T (p.Thr98Ile) | |
5 | g.127339132T>A | CA446422449 | MEGF10 | c.129T>A (p.Thr43=) c.294T>A (p.Thr98=) | |
5 | g.127339132T>C | CA3391182 | MEGF10 | c.129T>C (p.Thr43=) c.294T>C (p.Thr98=) | ClinVar dbSNP ExAC gnomAD v2 |
5 | g.127339132T>G | CA3391183 | MEGF10 | c.129T>G (p.Thr43=) c.294T>G (p.Thr98=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127339132T= | CA1580813897 | MEGF10 | c.129T= (p.Thr43=) c.294T= (p.Thr98=) | |
5 | g.127339134_127339135del | CA915940371 | MEGF10 | c.131_132del (p.Val44AlafsTer9) c.296_297del (p.Val99AlafsTer9) | ClinVar gnomAD v4 |
5 | g.127339133G>A | CA3391184 | MEGF10 | c.130G>A (p.Val44Met) c.295G>A (p.Val99Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127339133G>C | CA360822012 | MEGF10 | c.130G>C (p.Val44Leu) c.295G>C (p.Val99Leu) | |
5 | g.127339133G= | CA1580813898 | MEGF10 | c.130G= (p.Val44=) c.295G= (p.Val99=) | |
5 | g.127339133G>T | CA360822013 | MEGF10 | c.130G>T (p.Val44Leu) c.295G>T (p.Val99Leu) | |
5 | g.127339134T>A | CA360822014 | MEGF10 | c.131T>A (p.Val44Glu) c.296T>A (p.Val99Glu) | |
5 | g.127339134T>C | CA360822015 | MEGF10 | c.131T>C (p.Val44Ala) c.296T>C (p.Val99Ala) | |
5 | g.127339134T>G | CA360822016 | MEGF10 | c.131T>G (p.Val44Gly) c.296T>G (p.Val99Gly) | |
5 | g.127339135G>A | CA446422453 | MEGF10 | c.132G>A (p.Val44=) c.297G>A (p.Val99=) | |
5 | g.127339135G>C | CA446422455 | MEGF10 | c.132G>C (p.Val44=) c.297G>C (p.Val99=) | |
5 | g.127339135G>T | CA446422454 | MEGF10 | c.132G>T (p.Val44=) c.297G>T (p.Val99=) | |
5 | g.127339136C>A | CA360822019 | MEGF10 | c.133C>A (p.Gln45Lys) c.298C>A (p.Gln100Lys) | |
5 | g.127339136C>G | CA360822017 | MEGF10 | c.133C>G (p.Gln45Glu) c.298C>G (p.Gln100Glu) | |
5 | g.127339136C>T | CA360822018 | MEGF10 | c.133C>T (p.Gln45Ter) c.298C>T (p.Gln100Ter) | |
5 | g.127339137A= | CA1580813899 | MEGF10 | c.134A= (p.Gln45=) c.299A= (p.Gln100=) | |
5 | g.127339137A>C | CA127484491 | MEGF10 | c.134A>C (p.Gln45Pro) c.299A>C (p.Gln100Pro) | dbSNP |
5 | g.127339137A>G | CA360822020 | MEGF10 | c.134A>G (p.Gln45Arg) c.299A>G (p.Gln100Arg) | gnomAD v4 |
5 | g.127339137A>T | CA360822021 | MEGF10 | c.134A>T (p.Gln45Leu) c.299A>T (p.Gln100Leu) | |
5 | g.127339138A>C | CA360822022 | MEGF10 | c.135A>C (p.Gln45His) c.300A>C (p.Gln100His) | |
5 | g.127339138A>G | CA446422459 | MEGF10 | c.135A>G (p.Gln45=) c.300A>G (p.Gln100=) | |
5 | g.127339138A>T | CA360822023 | MEGF10 | c.135A>T (p.Gln45His) c.300A>T (p.Gln100His) | |
5 | g.127339139G>A | CA360822026 | MEGF10 | c.136G>A (p.Glu46Lys) c.301G>A (p.Glu101Lys) | |
5 | g.127339139G>C | CA360822024 | MEGF10 | c.136G>C (p.Glu46Gln) c.301G>C (p.Glu101Gln) | gnomAD v4 |
5 | g.127339139G>T | CA360822025 | MEGF10 | c.136G>T (p.Glu46Ter) c.301G>T (p.Glu101Ter) | |
5 | g.127339140A>C | CA360822027 | MEGF10 | c.137A>C (p.Glu46Ala) c.302A>C (p.Glu101Ala) | gnomAD v4 |
5 | g.127339140A>G | CA360822028 | MEGF10 | c.137A>G (p.Glu46Gly) c.302A>G (p.Glu101Gly) | |
5 | g.127339140A>T | CA360822029 | MEGF10 | c.137A>T (p.Glu46Val) c.302A>T (p.Glu101Val) | |
5 | g.127339141G>A | CA3391185 | MEGF10 | c.138G>A (p.Glu46=) c.303G>A (p.Glu101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127339141G>C | CA360822030 | MEGF10 | c.138G>C (p.Glu46Asp) c.303G>C (p.Glu101Asp) | |
5 | g.127339141G= | CA1580813900 | MEGF10 | c.138G= (p.Glu46=) c.303G= (p.Glu101=) | |
5 | g.127339141G>T | CA360822031 | MEGF10 | c.138G>T (p.Glu46Asp) c.303G>T (p.Glu101Asp) | |
5 | g.127339142T>A | CA360822034 | MEGF10 | c.139T>A (p.Ser47Thr) c.304T>A (p.Ser102Thr) | |
5 | g.127339142T>C | CA360822033 | MEGF10 | c.139T>C (p.Ser47Pro) c.304T>C (p.Ser102Pro) | |
5 | g.127339142T>G | CA360822032 | MEGF10 | c.139T>G (p.Ser47Ala) c.304T>G (p.Ser102Ala) | |
5 | g.127339143C>A | CA360822035 | MEGF10 | c.140C>A (p.Ser47Ter) c.305C>A (p.Ser102Ter) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127339143C= | CA1580813901 | MEGF10 | c.140C= (p.Ser47=) c.305C= (p.Ser102=) | |
5 | g.127339143C>G | CA360822036 | MEGF10 | c.140C>G (p.Ser47Ter) c.305C>G (p.Ser102Ter) | |
5 | g.127339143C>T | CA360822037 | MEGF10 | c.140C>T (p.Ser47Leu) c.305C>T (p.Ser102Leu) | gnomAD v4 |
5 | g.127339144A>C | CA446422468 | MEGF10 | c.141A>C (p.Ser47=) c.306A>C (p.Ser102=) | |
5 | g.127339144A>G | CA446422467 | MEGF10 | c.141A>G (p.Ser47=) c.306A>G (p.Ser102=) | |
5 | g.127339144A>T | CA446422466 | MEGF10 | c.141A>T (p.Ser47=) c.306A>T (p.Ser102=) | |
5 | g.127339145T>A | CA360822038 | MEGF10 | c.142T>A (p.Tyr48Asn) c.307T>A (p.Tyr103Asn) | |
5 | g.127339145T>C | CA3391186 | MEGF10 | c.142T>C (p.Tyr48His) c.307T>C (p.Tyr103His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127339145T>G | CA360822039 | MEGF10 | c.142T>G (p.Tyr48Asp) c.307T>G (p.Tyr103Asp) | |
5 | g.127339145T= | CA1580813902 | MEGF10 | c.142T= (p.Tyr48=) c.307T= (p.Tyr103=) | |
5 | g.127339146A>C | CA360822040 | MEGF10 | c.143A>C (p.Tyr48Ser) c.308A>C (p.Tyr103Ser) | |
5 | g.127339146A>G | CA360822042 | MEGF10 | c.143A>G (p.Tyr48Cys) c.308A>G (p.Tyr103Cys) | |
5 | g.127339146A>T | CA360822041 | MEGF10 | c.143A>T (p.Tyr48Phe) c.308A>T (p.Tyr103Phe) | |
5 | g.127339147C>A | CA360822043 | MEGF10 | c.144C>A (p.Tyr48Ter) c.309C>A (p.Tyr103Ter) | |
5 | g.127339147C>G | CA360822044 | MEGF10 | c.144C>G (p.Tyr48Ter) c.309C>G (p.Tyr103Ter) | |
5 | g.127339147C>T | CA446422469 | MEGF10 | c.144C>T (p.Tyr48=) c.309C>T (p.Tyr103=) | gnomAD v4 |
5 | g.127339148C>A | CA360822045 | MEGF10 | c.145C>A (p.Pro49Thr) c.310C>A (p.Pro104Thr) | |
5 | g.127339148C>G | CA360822046 | MEGF10 | c.145C>G (p.Pro49Ala) c.310C>G (p.Pro104Ala) | |
5 | g.127339148C>T | CA360822047 | MEGF10 | c.145C>T (p.Pro49Ser) c.310C>T (p.Pro104Ser) | |
5 | g.127339149C>A | CA360822048 | MEGF10 | c.146C>A (p.Pro49Gln) c.311C>A (p.Pro104Gln) | |
5 | g.127339149C= | CA1580813903 | MEGF10 | c.146C= (p.Pro49=) c.311C= (p.Pro104=) | |
5 | g.127339149C>G | CA360822049 | MEGF10 | c.146C>G (p.Pro49Arg) c.311C>G (p.Pro104Arg) | |
5 | g.127339149C>T | CA360822050 | MEGF10 | c.146C>T (p.Pro49Leu) c.311C>T (p.Pro104Leu) | dbSNP gnomAD v4 |
5 | g.127339150A= | CA1580813904 | MEGF10 | c.147A= (p.Pro49=) c.312A= (p.Pro104=) | |
5 | g.127339150A>C | CA446422473 | MEGF10 | c.147A>C (p.Pro49=) c.312A>C (p.Pro104=) | |
5 | g.127339150A>G | CA446422474 | MEGF10 | c.147A>G (p.Pro49=) c.312A>G (p.Pro104=) | ClinVar dbSNP |
5 | g.127339150A>T | CA446422475 | MEGF10 | c.147A>T (p.Pro49=) c.312A>T (p.Pro104=) | |
5 | g.127339151C>A | CA360822051 | MEGF10 | c.148C>A (p.His50Asn) c.313C>A (p.His105Asn) | |
5 | g.127339151C= | CA1580813905 | MEGF10 | c.148C= (p.His50=) c.313C= (p.His105=) | |
5 | g.127339151C>G | CA360822052 | MEGF10 | c.148C>G (p.His50Asp) c.313C>G (p.His105Asp) | |
5 | g.127339151C>T | CA360822053 | MEGF10 | c.148C>T (p.His50Tyr) c.313C>T (p.His105Tyr) | dbSNP gnomAD v4 |
5 | g.127339152A= | CA1580813906 | MEGF10 | c.149A= (p.His50=) c.314A= (p.His105=) | |
5 | g.127339152A>C | CA360822054 | MEGF10 | c.149A>C (p.His50Pro) c.314A>C (p.His105Pro) | |
5 | g.127339152A>G | CA360822056 | MEGF10 | c.149A>G (p.His50Arg) c.314A>G (p.His105Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.127339152A>T | CA360822055 | MEGF10 | c.149A>T (p.His50Leu) c.314A>T (p.His105Leu) | |
5 | g.127339153T>A | CA360822057 | MEGF10 | c.150T>A (p.His50Gln) c.315T>A (p.His105Gln) | |
5 | g.127339153T>C | CA446422479 | MEGF10 | c.150T>C (p.His50=) c.315T>C (p.His105=) | |
5 | g.127339153T>G | CA360822058 | MEGF10 | c.150T>G (p.His50Gln) c.315T>G (p.His105Gln) | |
5 | g.127339154C>A | CA360822059 | MEGF10 | c.151C>A (p.Pro51Thr) c.316C>A (p.Pro106Thr) | |
5 | g.127339154C= | CA1580813907 | MEGF10 | c.151C= (p.Pro51=) c.316C= (p.Pro106=) | |
5 | g.127339154C>G | CA360822060 | MEGF10 | c.151C>G (p.Pro51Ala) c.316C>G (p.Pro106Ala) | |
5 | g.127339154C>T | CA360822061 | MEGF10 | c.151C>T (p.Pro51Ser) c.316C>T (p.Pro106Ser) | dbSNP |
5 | g.127339155C>A | CA360822062 | MEGF10 | c.152C>A (p.Pro51His) c.317C>A (p.Pro106His) | gnomAD v4 |
5 | g.127339155C>G | CA360822063 | MEGF10 | c.152C>G (p.Pro51Arg) c.317C>G (p.Pro106Arg) | |
5 | g.127339155C>T | CA360822064 | MEGF10 | c.152C>T (p.Pro51Leu) c.317C>T (p.Pro106Leu) | |
5 | g.127339156C>A | CA446422484 | MEGF10 | c.153C>A (p.Pro51=) c.318C>A (p.Pro106=) | |
5 | g.127339156C= | CA1580813908 | MEGF10 | c.153C= (p.Pro51=) c.318C= (p.Pro106=) | |
5 | g.127339156C>G | CA446422486 | MEGF10 | c.153C>G (p.Pro51=) c.318C>G (p.Pro106=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127339156C>T | CA3391187 | MEGF10 | c.153C>T (p.Pro51=) c.318C>T (p.Pro106=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127339157T>A | CA360822065 | MEGF10 | c.154T>A (p.Phe52Ile) c.319T>A (p.Phe107Ile) | |
5 | g.127339157T>C | CA360822066 | MEGF10 | c.154T>C (p.Phe52Leu) c.319T>C (p.Phe107Leu) | |
5 | g.127339157T>G | CA360822067 | MEGF10 | c.154T>G (p.Phe52Val) c.319T>G (p.Phe107Val) | |
5 | g.127339158T>A | CA360822068 | MEGF10 | c.155T>A (p.Phe52Tyr) c.320T>A (p.Phe107Tyr) | |
5 | g.127339158T>C | CA360822069 | MEGF10 | c.155T>C (p.Phe52Ser) c.320T>C (p.Phe107Ser) | |
5 | g.127339158T>G | CA360822070 | MEGF10 | c.155T>G (p.Phe52Cys) c.320T>G (p.Phe107Cys) | |
5 | g.127339159T>A | CA360822072 | MEGF10 | c.156T>A (p.Phe52Leu) c.321T>A (p.Phe107Leu) | |
5 | g.127339159T>C | CA10586894 | MEGF10 | c.156T>C (p.Phe52=) c.321T>C (p.Phe107=) | ClinVar dbSNP |
5 | g.127339159T>G | CA360822071 | MEGF10 | c.156T>G (p.Phe52Leu) c.321T>G (p.Phe107Leu) | |
5 | g.127339159T= | CA1580813909 | MEGF10 | c.156T= (p.Phe52=) c.321T= (p.Phe107=) | |
5 | g.127339160G>A | CA360822073 | MEGF10 | c.157G>A (p.Asp53Asn) c.322G>A (p.Asp108Asn) | gnomAD v4 |
5 | g.127339160G>C | CA360822074 | MEGF10 | c.157G>C (p.Asp53His) c.322G>C (p.Asp108His) | |
5 | g.127339160G= | CA1580813910 | MEGF10 | c.157G= (p.Asp53=) c.322G= (p.Asp108=) | |
5 | g.127339160G>T | CA3391188 | MEGF10 | c.157G>T (p.Asp53Tyr) c.322G>T (p.Asp108Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127339161A>C | CA360822075 | MEGF10 | c.158A>C (p.Asp53Ala) c.323A>C (p.Asp108Ala) | |
5 | g.127339161A>G | CA360822076 | MEGF10 | c.158A>G (p.Asp53Gly) c.323A>G (p.Asp108Gly) | |
5 | g.127339161A>T | CA360822077 | MEGF10 | c.158A>T (p.Asp53Val) c.323A>T (p.Asp108Val) | |
5 | g.127339162T>A | CA360822078 | MEGF10 | c.159T>A (p.Asp53Glu) c.324T>A (p.Asp108Glu) | |
5 | g.127339162T>C | CA446422515 | MEGF10 | c.159T>C (p.Asp53=) c.324T>C (p.Asp108=) | dbSNP gnomAD v4 |
5 | g.127339162T>G | CA360822079 | MEGF10 | c.159T>G (p.Asp53Glu) c.324T>G (p.Asp108Glu) | |
5 | g.127339162T= | CA1580813911 | MEGF10 | c.159T= (p.Asp53=) c.324T= (p.Asp108=) | |
5 | g.127339163C>A | CA360822080 | MEGF10 | c.160C>A (p.Gln54Lys) c.325C>A (p.Gln109Lys) | ClinVar dbSNP gnomAD v4 |
5 | g.127339163C= | CA1580813912 | MEGF10 | c.160C= (p.Gln54=) c.325C= (p.Gln109=) | |
5 | g.127339163C>G | CA360822081 | MEGF10 | c.160C>G (p.Gln54Glu) c.325C>G (p.Gln109Glu) | |
5 | g.127339163C>T | CA360822082 | MEGF10 | c.160C>T (p.Gln54Ter) c.325C>T (p.Gln109Ter) | |
5 | g.127339164A>C | CA360822085 | MEGF10 | c.161A>C (p.Gln54Pro) c.326A>C (p.Gln109Pro) | |
5 | g.127339164A>G | CA360822084 | MEGF10 | c.161A>G (p.Gln54Arg) c.326A>G (p.Gln109Arg) | |
5 | g.127339164A>T | CA360822083 | MEGF10 | c.161A>T (p.Gln54Leu) c.326A>T (p.Gln109Leu) | |
5 | g.127339165A= | CA1580813913 | MEGF10 | c.162A= (p.Gln54=) c.327A= (p.Gln109=) | |
5 | g.127339165A>C | CA360822086 | MEGF10 | c.162A>C (p.Gln54His) c.327A>C (p.Gln109His) | |
5 | g.127339165A>G | CA3391189 | MEGF10 | c.162A>G (p.Gln54=) c.327A>G (p.Gln109=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127339165A>T | CA360822087 | MEGF10 | c.162A>T (p.Gln54His) c.327A>T (p.Gln109His) | gnomAD v4 |
5 | g.127339166A>C | CA360822088 | MEGF10 | c.163A>C (p.Ile55Leu) c.328A>C (p.Ile110Leu) | |
5 | g.127339166A>G | CA360822089 | MEGF10 | c.163A>G (p.Ile55Val) c.328A>G (p.Ile110Val) | |
5 | g.127339166A>T | CA360822090 | MEGF10 | c.163A>T (p.Ile55Phe) c.328A>T (p.Ile110Phe) | |
5 | g.127339167T>A | CA360822091 | MEGF10 | c.164T>A (p.Ile55Asn) c.329T>A (p.Ile110Asn) | |
5 | g.127339167T>C | CA360822092 | MEGF10 | c.164T>C (p.Ile55Thr) c.329T>C (p.Ile110Thr) | |
5 | g.127339167T>G | CA360822093 | MEGF10 | c.164T>G (p.Ile55Ser) c.329T>G (p.Ile110Ser) | |
5 | g.127339168T>A | CA446422555 | MEGF10 | c.165T>A (p.Ile55=) c.330T>A (p.Ile110=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.127339168T>C | CA127484492 | MEGF10 | c.165T>C (p.Ile55=) c.330T>C (p.Ile110=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127339168T>G | CA360822094 | MEGF10 | c.165T>G (p.Ile55Met) c.330T>G (p.Ile110Met) | |
5 | g.127339168T= | CA1580813914 | MEGF10 | c.165T= (p.Ile55=) c.330T= (p.Ile110=) | |
5 | g.127339169T>A | CA360822095 | MEGF10 | c.166T>A (p.Tyr56Asn) c.331T>A (p.Tyr111Asn) | |
5 | g.127339169T>C | CA360822096 | MEGF10 | c.166T>C (p.Tyr56His) c.331T>C (p.Tyr111His) | |
5 | g.127339169T>G | CA360822097 | MEGF10 | c.166T>G (p.Tyr56Asp) c.331T>G (p.Tyr111Asp) | |
5 | g.127339170A>C | CA360822100 | MEGF10 | c.167A>C (p.Tyr56Ser) c.332A>C (p.Tyr111Ser) | |
5 | g.127339170A>G | CA360822098 | MEGF10 | c.167A>G (p.Tyr56Cys) c.332A>G (p.Tyr111Cys) | |
5 | g.127339170A>T | CA360822099 | MEGF10 | c.167A>T (p.Tyr56Phe) c.332A>T (p.Tyr111Phe) | |
5 | g.127339171C>A | CA360822101 | MEGF10 | c.168C>A (p.Tyr56Ter) c.333C>A (p.Tyr111Ter) | |
5 | g.127339171C= | CA1580813915 | MEGF10 | c.168C= (p.Tyr56=) c.333C= (p.Tyr111=) | |
5 | g.127339171C>G | CA360822102 | MEGF10 | c.168C>G (p.Tyr56Ter) c.333C>G (p.Tyr111Ter) | |
5 | g.127339171C>T | CA446422559 | MEGF10 | c.168C>T (p.Tyr56=) c.333C>T (p.Tyr111=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.127339172T>A | CA360822103 | MEGF10 | c.169T>A (p.Tyr57Asn) c.334T>A (p.Tyr112Asn) | |
5 | g.127339172T>C | CA360822104 | MEGF10 | c.169T>C (p.Tyr57His) c.334T>C (p.Tyr112His) | |
5 | g.127339172T>G | CA360822105 | MEGF10 | c.169T>G (p.Tyr57Asp) c.334T>G (p.Tyr112Asp) | |
5 | g.127339173A= | CA1580813916 | MEGF10 | c.170A= (p.Tyr57=) c.335A= (p.Tyr112=) | |
5 | g.127339173A>C | CA360822106 | MEGF10 | c.170A>C (p.Tyr57Ser) c.335A>C (p.Tyr112Ser) | |
5 | g.127339173A>G | CA360822107 | MEGF10 | c.170A>G (p.Tyr57Cys) c.335A>G (p.Tyr112Cys) | dbSNP |
5 | g.127339173A>T | CA360822108 | MEGF10 | c.170A>T (p.Tyr57Phe) c.335A>T (p.Tyr112Phe) | |
5 | g.127339174C>A | CA360822109 | MEGF10 | c.171C>A (p.Tyr57Ter) c.336C>A (p.Tyr112Ter) | |
5 | g.127339174C= | CA1580813917 | MEGF10 | c.171C= (p.Tyr57=) c.336C= (p.Tyr112=) | |
5 | g.127339174C>G | CA360822110 | MEGF10 | c.171C>G (p.Tyr57Ter) c.336C>G (p.Tyr112Ter) | |
5 | g.127339174C>T | CA127484493 | MEGF10 | c.171C>T (p.Tyr57=) c.336C>T (p.Tyr112=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.127339175A>C | CA360822111 | MEGF10 | c.172A>C (p.Thr58Pro) c.337A>C (p.Thr113Pro) | |
5 | g.127339175A>G | CA360822113 | MEGF10 | c.172A>G (p.Thr58Ala) c.337A>G (p.Thr113Ala) | |
5 | g.127339175A>T | CA360822112 | MEGF10 | c.172A>T (p.Thr58Ser) c.337A>T (p.Thr113Ser) | dbSNP |
5 | g.127339176C>A | CA360822114 | MEGF10 | c.173C>A (p.Thr58Lys) c.338C>A (p.Thr113Lys) | |
5 | g.127339176C= | CA1580813918 | MEGF10 | c.173C= (p.Thr58=) c.338C= (p.Thr113=) | |
5 | g.127339176C>G | CA360822115 | MEGF10 | c.173C>G (p.Thr58Arg) c.338C>G (p.Thr113Arg) | |
5 | g.127339176C>T | CA127484494 | MEGF10 | c.173C>T (p.Thr58Met) c.338C>T (p.Thr113Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.127339177G>A | CA3391190 | MEGF10 | c.174G>A (p.Thr58=) c.339G>A (p.Thr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127339177G>C | CA446422579 | MEGF10 | c.174G>C (p.Thr58=) c.339G>C (p.Thr113=) | |
5 | g.127339177G= | CA1580813919 | MEGF10 | c.174G= (p.Thr58=) c.339G= (p.Thr113=) | |
5 | g.127339177G>T | CA3391191 | MEGF10 | c.174G>T (p.Thr58=) c.339G>T (p.Thr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127339178A>C | CA360822116 | MEGF10 | c.175A>C (p.Ser59Arg) c.340A>C (p.Ser114Arg) | |
5 | g.127339178A>G | CA360822117 | MEGF10 | c.175A>G (p.Ser59Gly) c.340A>G (p.Ser114Gly) | |
5 | g.127339178A>T | CA360822118 | MEGF10 | c.175A>T (p.Ser59Cys) c.340A>T (p.Ser114Cys) | |
5 | g.127339179G>A | CA360822119 | MEGF10 | c.176G>A (p.Ser59Asn) c.341G>A (p.Ser114Asn) | |
5 | g.127339179G>C | CA360822120 | MEGF10 | c.176G>C (p.Ser59Thr) c.341G>C (p.Ser114Thr) | |
5 | g.127339179G>T | CA360822121 | MEGF10 | c.176G>T (p.Ser59Ile) c.341G>T (p.Ser114Ile) | |
5 | g.127339180C>A | CA360822122 | MEGF10 | c.177C>A (p.Ser59Arg) c.342C>A (p.Ser114Arg) | |
5 | g.127339180C>G | CA360822123 | MEGF10 | c.177C>G (p.Ser59Arg) c.342C>G (p.Ser114Arg) | |
5 | g.127339180C>T | CA446422590 | MEGF10 | c.177C>T (p.Ser59=) c.342C>T (p.Ser114=) | |
5 | g.127339181T>A | CA360822126 | MEGF10 | c.178T>A (p.Cys60Ser) c.343T>A (p.Cys115Ser) | |
5 | g.127339181T>C | CA360822125 | MEGF10 | c.178T>C (p.Cys60Arg) c.343T>C (p.Cys115Arg) | |
5 | g.127339181T>G | CA360822124 | MEGF10 | c.178T>G (p.Cys60Gly) c.343T>G (p.Cys115Gly) | |
5 | g.127339182G>A | CA360822127 | MEGF10 | c.179G>A (p.Cys60Tyr) c.344G>A (p.Cys115Tyr) | |
5 | g.127339182G>C | CA360822128 | MEGF10 | c.179G>C (p.Cys60Ser) c.344G>C (p.Cys115Ser) | gnomAD v4 |
5 | g.127339182G>T | CA360822129 | MEGF10 | c.179G>T (p.Cys60Phe) c.344G>T (p.Cys115Phe) | |
5 | g.127339183C>A | CA360822130 | MEGF10 | c.180C>A (p.Cys60Ter) c.345C>A (p.Cys115Ter) | |
5 | g.127339183C>G | CA360822131 | MEGF10 | c.180C>G (p.Cys60Trp) c.345C>G (p.Cys115Trp) | |
5 | g.127339183C>T | CA446422601 | MEGF10 | c.180C>T (p.Cys60=) c.345C>T (p.Cys115=) | |
5 | g.127339184A= | CA1580813920 | MEGF10 | c.181A= (p.Thr61=) c.346A= (p.Thr116=) | |
5 | g.127339184A>C | CA360822132 | MEGF10 | c.181A>C (p.Thr61Pro) c.346A>C (p.Thr116Pro) | gnomAD v4 |
5 | g.127339184A>G | CA360822133 | MEGF10 | c.181A>G (p.Thr61Ala) c.346A>G (p.Thr116Ala) | dbSNP |
5 | g.127339184A>T | CA360822134 | MEGF10 | c.181A>T (p.Thr61Ser) c.346A>T (p.Thr116Ser) | |
5 | g.127339185C>A | CA360822135 | MEGF10 | c.182C>A (p.Thr61Asn) c.347C>A (p.Thr116Asn) | |
5 | g.127339185C>G | CA360822136 | MEGF10 | c.182C>G (p.Thr61Ser) c.347C>G (p.Thr116Ser) | gnomAD v4 |
5 | g.127339185C>T | CA360822137 | MEGF10 | c.182C>T (p.Thr61Ile) c.347C>T (p.Thr116Ile) | gnomAD v4 |
5 | g.127339186T>A | CA446422606 | MEGF10 | c.183T>A (p.Thr61=) c.348T>A (p.Thr116=) | |
5 | g.127339186T>C | CA446422604 | MEGF10 | c.183T>C (p.Thr61=) c.348T>C (p.Thr116=) | ClinVar dbSNP gnomAD v4 |
5 | g.127339186T>G | CA446422603 | MEGF10 | c.183T>G (p.Thr61=) c.348T>G (p.Thr116=) | |
5 | g.127339186T= | CA1580813921 | MEGF10 | c.183T= (p.Thr61=) c.348T= (p.Thr116=) | |
5 | g.127339187G>A | CA360822138 | MEGF10 | c.184G>A (p.Asp62Asn) c.349G>A (p.Asp117Asn) | |
5 | g.127339187G>C | CA360822139 | MEGF10 | c.184G>C (p.Asp62His) c.349G>C (p.Asp117His) | dbSNP |
5 | g.127339187G= | CA1580813922 | MEGF10 | c.184G= (p.Asp62=) c.349G= (p.Asp117=) | |
5 | g.127339187G>T | CA360822140 | MEGF10 | c.184G>T (p.Asp62Tyr) c.349G>T (p.Asp117Tyr) | |
5 | g.127339188A>C | CA360822143 | MEGF10 | c.185A>C (p.Asp62Ala) c.350A>C (p.Asp117Ala) | |
5 | g.127339188A>G | CA360822142 | MEGF10 | c.185A>G (p.Asp62Gly) c.350A>G (p.Asp117Gly) | ClinVar |
5 | g.127339188A>T | CA360822141 | MEGF10 | c.185A>T (p.Asp62Val) c.350A>T (p.Asp117Val) | |
5 | g.127339189C>A | CA360822144 | MEGF10 | c.186C>A (p.Asp62Glu) c.351C>A (p.Asp117Glu) | |
5 | g.127339189C= | CA1580813923 | MEGF10 | c.186C= (p.Asp62=) c.351C= (p.Asp117=) | |
5 | g.127339189C>G | CA360822145 | MEGF10 | c.186C>G (p.Asp62Glu) c.351C>G (p.Asp117Glu) | |
5 | g.127339189C>T | CA127484495 | MEGF10 | c.186C>T (p.Asp62=) c.351C>T (p.Asp117=) | dbSNP |
5 | g.127339190A>C | CA360822146 | MEGF10 | c.187A>C (p.Ile63Leu) c.352A>C (p.Ile118Leu) | |
5 | g.127339190A>G | CA360822147 | MEGF10 | c.187A>G (p.Ile63Val) c.352A>G (p.Ile118Val) | gnomAD v4 |
5 | g.127339190A>T | CA360822148 | MEGF10 | c.187A>T (p.Ile63Phe) c.352A>T (p.Ile118Phe) | |
5 | g.127339190_127339203delinsATTCTAAACTGGTT | CA1580813924 | MEGF10 | c.187_200delinsATTCTAAACTGGTT (p.Ile63=) c.352_365delinsATTCTAAACTGGTT (p.Ile118=) | |
5 | g.127339191T>A | CA360822151 | MEGF10 | c.188T>A (p.Ile63Asn) c.353T>A (p.Ile118Asn) | |
5 | g.127339191T>C | CA360822150 | MEGF10 | c.188T>C (p.Ile63Thr) c.353T>C (p.Ile118Thr) | |
5 | g.127339191T>G | CA360822149 | MEGF10 | c.188T>G (p.Ile63Ser) c.353T>G (p.Ile118Ser) | |
5 | g.127339192_127339204del | CA1580813925 | MEGF10 | c.189_201del (p.Leu64AsnfsTer?) c.354_366del (p.Leu119AsnfsTer?) | dbSNP |
5 | g.127339192T>A | CA446422621 | MEGF10 | c.189T>A (p.Ile63=) c.354T>A (p.Ile118=) | |
5 | g.127339192T>C | CA446422622 | MEGF10 | c.189T>C (p.Ile63=) c.354T>C (p.Ile118=) | |
5 | g.127339192T>G | CA360822152 | MEGF10 | c.189T>G (p.Ile63Met) c.354T>G (p.Ile118Met) |