Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3254626_3254670del | CA2631355299 | MEFV | c.398_442del (p.Arg133_Glu148delinsGln) c.277+1641_277+1685del (n.277+1641_277+1685del) n.587_631del | gnomAD v4 |
16 | g.3254657_3254661dup | CA2631355377 | MEFV | c.409_413dup (p.Ala140GlufsTer21) c.277+1652_277+1656dup (n.277+1652_277+1656dup) n.598_602dup | gnomAD v4 |
16 | g.3254656C>A | CA394481679 | MEFV | c.412G>T (p.Gly138Ter) c.277+1655G>T (n.277+1655G>T) n.601G>T | |
16 | g.3254656C= | CA2202664943 | MEFV | c.412G= (p.Gly138=) c.277+1655G= (n.277+1655G=) n.601G= | |
16 | g.3254656C>G | CA394481692 | MEFV | c.412G>C (p.Gly138Arg) c.277+1655G>C (n.277+1655G>C) n.601G>C | |
16 | g.3254656C>T | CA394481693 | MEFV | c.412G>A (p.Gly138Arg) c.277+1655G>A (n.277+1655G>A) n.601G>A | dbSNP gnomAD v4 |
16 | g.3254656_3254657insA | CA7860434 | MEFV | c.411_412insT (p.Gly138TrpfsTer?) c.277+1654_277+1655insT (n.277+1654_277+1655insT) n.600_601insT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3254657del | CA2631355384 | MEFV | c.411del (p.Gly138GlufsTer21) c.277+1654del (n.277+1654del) n.600del | gnomAD v4 |
16 | g.3254657G>A | CA7860435 | MEFV | c.411C>T (p.Gly137=) c.277+1654C>T (n.277+1654C>T) n.600C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3254657G>C | CA493384536 | MEFV | c.411C>G (p.Gly137=) c.277+1654C>G (n.277+1654C>G) n.600C>G | ClinVar dbSNP |
16 | g.3254657G= | CA2202664945 | MEFV | c.411C= (p.Gly137=) c.277+1654C= (n.277+1654C=) n.600C= | |
16 | g.3254657G>T | CA493384537 | MEFV | c.411C>A (p.Gly137=) c.277+1654C>A (n.277+1654C>A) n.600C>A | gnomAD v4 |
16 | g.3254657_3254658delinsGC | CA2202664944 | MEFV | c.410_411delinsGC (p.Gly137=) c.277+1653_277+1654delinsGC (n.277+1653_277+1654delinsGC) n.599_600delinsGC | |
16 | g.3254658C>A | CA394481701 | MEFV | c.410G>T (p.Gly137Val) c.277+1653G>T (n.277+1653G>T) n.599G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3254658C= | CA2202664946 | MEFV | c.410G= (p.Gly137=) c.277+1653G= (n.277+1653G=) n.599G= | |
16 | g.3254658C>G | CA394481704 | MEFV | c.410G>C (p.Gly137Ala) c.277+1653G>C (n.277+1653G>C) n.599G>C | |
16 | g.3254658C>T | CA7860437 | MEFV | c.410G>A (p.Gly137Asp) c.277+1653G>A (n.277+1653G>A) n.599G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3254662dup | CA2631355388 | MEFV | c.410dup (p.Gly138ArgfsTer?) c.277+1653dup (n.277+1653dup) n.599dup | gnomAD v4 |
16 | g.3254662del | CA7860436 | MEFV | c.410del (p.Gly137AlafsTer22) c.277+1653del (n.277+1653del) n.599del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3254659C>A | CA276902991 | MEFV | c.409G>T (p.Gly137Cys) c.277+1652G>T (n.277+1652G>T) n.598G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3254659C= | CA2202664947 | MEFV | c.409G= (p.Gly137=) c.277+1652G= (n.277+1652G=) n.598G= | |
16 | g.3254659C>G | CA394481713 | MEFV | c.409G>C (p.Gly137Arg) c.277+1652G>C (n.277+1652G>C) n.598G>C | gnomAD v4 |
16 | g.3254659C>T | CA394481710 | MEFV | c.409G>A (p.Gly137Ser) c.277+1652G>A (n.277+1652G>A) n.598G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3254660C>A | CA493384539 | MEFV | c.408G>T (p.Gly136=) c.277+1651G>T (n.277+1651G>T) n.597G>T | |
16 | g.3254660C= | CA2202664948 | MEFV | c.408G= (p.Gly136=) c.277+1651G= (n.277+1651G=) n.597G= | |
16 | g.3254660C>G | CA493384540 | MEFV | c.408G>C (p.Gly136=) c.277+1651G>C (n.277+1651G>C) n.597G>C | |
16 | g.3254660C>T | CA493384538 | MEFV | c.408G>A (p.Gly136=) c.277+1651G>A (n.277+1651G>A) n.597G>A | dbSNP |
16 | g.3254661C>A | CA394481717 | MEFV | c.407G>T (p.Gly136Val) c.277+1650G>T (n.277+1650G>T) n.596G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3254661C= | CA2202664949 | MEFV | c.407G= (p.Gly136=) c.277+1650G= (n.277+1650G=) n.596G= | |
16 | g.3254661C>G | CA394481721 | MEFV | c.407G>C (p.Gly136Ala) c.277+1650G>C (n.277+1650G>C) n.596G>C | gnomAD v4 |
16 | g.3254661C>T | CA10577526 | MEFV | c.407G>A (p.Gly136Glu) c.277+1650G>A (n.277+1650G>A) n.596G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3254662C>A | CA394481734 | MEFV | c.406G>T (p.Gly136Trp) c.277+1649G>T (n.277+1649G>T) n.595G>T | gnomAD v4 |
16 | g.3254662C= | CA2202664951 | MEFV | c.406G= (p.Gly136=) c.277+1649G= (n.277+1649G=) n.595G= | |
16 | g.3254662C>G | CA394481740 | MEFV | c.406G>C (p.Gly136Arg) c.277+1649G>C (n.277+1649G>C) n.595G>C | gnomAD v4 |
16 | g.3254662C>T | CA7860438 | MEFV | c.406G>A (p.Gly136Arg) c.277+1649G>A (n.277+1649G>A) n.595G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3254662_3254663delinsCG | CA2202664950 | MEFV | c.405_406delinsCG (p.Tyr135=) c.277+1648_277+1649delinsCG (n.277+1648_277+1649delinsCG) n.594_595delinsCG | |
16 | g.3254663del | CA276902997 | MEFV | c.405del (p.Tyr135Ter) c.277+1648del (n.277+1648del) n.594del | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3254663G>A | CA7860440 | MEFV | c.405C>T (p.Tyr135=) c.277+1648C>T (n.277+1648C>T) n.594C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3254663G>C | CA7860439 | MEFV | c.405C>G (p.Tyr135Ter) c.277+1648C>G (n.277+1648C>G) n.594C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3254663G= | CA2202664952 | MEFV | c.405C= (p.Tyr135=) c.277+1648C= (n.277+1648C=) n.594C= | |
16 | g.3254663G>T | CA394481751 | MEFV | c.405C>A (p.Tyr135Ter) c.277+1648C>A (n.277+1648C>A) n.594C>A | |
16 | g.3254664T>A | CA394481758 | MEFV | c.404A>T (p.Tyr135Phe) c.277+1647A>T (n.277+1647A>T) n.593A>T | |
16 | g.3254664T>C | CA394481761 | MEFV | c.404A>G (p.Tyr135Cys) c.277+1647A>G (n.277+1647A>G) n.593A>G | gnomAD v4 |
16 | g.3254664T>G | CA394481762 | MEFV | c.404A>C (p.Tyr135Ser) c.277+1647A>C (n.277+1647A>C) n.593A>C | |
16 | g.3254665A= | CA2202664953 | MEFV | c.403T= (p.Tyr135=) c.277+1646T= (n.277+1646T=) n.592T= | |
16 | g.3254665A>C | CA394481770 | MEFV | c.403T>G (p.Tyr135Asp) c.277+1646T>G (n.277+1646T>G) n.592T>G | |
16 | g.3254665A>G | CA276903011 | MEFV | c.403T>C (p.Tyr135His) c.277+1646T>C (n.277+1646T>C) n.592T>C | dbSNP gnomAD v4 |
16 | g.3254665A>T | CA276903017 | MEFV | c.403T>A (p.Tyr135Asn) c.277+1646T>A (n.277+1646T>A) n.592T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3254666C>A | CA276903021 | MEFV | c.402G>T (p.Pro134=) c.277+1645G>T (n.277+1645G>T) n.591G>T | dbSNP |
16 | g.3254666C= | CA2202664955 | MEFV | c.402G= (p.Pro134=) c.277+1645G= (n.277+1645G=) n.591G= |