Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |