| 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.3254635_3254650del | CA2575889886 | MEFV | c.425_440del (p.Leu142ProfsTer12) c.277+1668_277+1683del (n.277+1668_277+1683del) n.614_629del | |
| 16 | g.3254649G>A | CA394481652 | MEFV | c.419C>T (p.Ala140Val) c.277+1662C>T (n.277+1662C>T) n.608C>T | |
| 16 | g.3254649G>C | CA394481653 | MEFV | c.419C>G (p.Ala140Gly) c.277+1662C>G (n.277+1662C>G) n.608C>G | |
| 16 | g.3254649G>T | CA394481651 | MEFV | c.419C>A (p.Ala140Asp) c.277+1662C>A (n.277+1662C>A) n.608C>A | gnomAD v4 |
| 16 | g.3254650C>A | CA394481654 | MEFV | c.418G>T (p.Ala140Ser) c.277+1661G>T (n.277+1661G>T) n.607G>T | |
| 16 | g.3254650C= | CA2202664937 | MEFV | c.418G= (p.Ala140=) c.277+1661G= (n.277+1661G=) n.607G= | |
| 16 | g.3254650C>G | CA394481656 | MEFV | c.418G>C (p.Ala140Pro) c.277+1661G>C (n.277+1661G>C) n.607G>C | dbSNP gnomAD v4 |
| 16 | g.3254650C>T | CA276902952 | MEFV | c.418G>A (p.Ala140Thr) c.277+1661G>A (n.277+1661G>A) n.607G>A | dbSNP gnomAD v4 |
| 16 | g.3254651A>C | CA493384380 | MEFV | c.417T>G (p.Ala139=) c.277+1660T>G (n.277+1660T>G) n.606T>G | |
| 16 | g.3254651A>G | CA493384378 | MEFV | c.417T>C (p.Ala139=) c.277+1660T>C (n.277+1660T>C) n.606T>C | |
| 16 | g.3254651A>T | CA493384379 | MEFV | c.417T>A (p.Ala139=) c.277+1660T>A (n.277+1660T>A) n.606T>A | |
| 16 | g.3254652G>A | CA394481659 | MEFV | c.416C>T (p.Ala139Val) c.277+1659C>T (n.277+1659C>T) n.605C>T | gnomAD v4 |
| 16 | g.3254652G>C | CA394481663 | MEFV | c.416C>G (p.Ala139Gly) c.277+1659C>G (n.277+1659C>G) n.605C>G | gnomAD v4 |
| 16 | g.3254652G= | CA2202664938 | MEFV | c.416C= (p.Ala139=) c.277+1659C= (n.277+1659C=) n.605C= | |
| 16 | g.3254652G>T | CA7860430 | MEFV | c.416C>A (p.Ala139Asp) c.277+1659C>A (n.277+1659C>A) n.605C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254653C>A | CA7860431 | MEFV | c.415G>T (p.Ala139Ser) c.277+1658G>T (n.277+1658G>T) n.604G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254653C= | CA2202664939 | MEFV | c.415G= (p.Ala139=) c.277+1658G= (n.277+1658G=) n.604G= | |
| 16 | g.3254653C>G | CA394481670 | MEFV | c.415G>C (p.Ala139Pro) c.277+1658G>C (n.277+1658G>C) n.604G>C | |
| 16 | g.3254653C>T | CA394481669 | MEFV | c.415G>A (p.Ala139Thr) c.277+1658G>A (n.277+1658G>A) n.604G>A | gnomAD v4 |
| 16 | g.3254653_3254654delinsAC | CA891862990 | MEFV | c.414_415delinsGT (p.Ala139Ser) c.277+1657_277+1658delinsGT (n.277+1657_277+1658delinsGT) n.603_604delinsGT | ClinVar dbSNP |
| 16 | g.3254653_3254654delinsCT | CA2202664940 | MEFV | c.414_415delinsAG (p.Gly138=) c.277+1657_277+1658delinsAG (n.277+1657_277+1658delinsAG) n.603_604delinsAG | |
| 16 | g.3254654T>A | CA7860432 | MEFV | c.414A>T (p.Gly138=) c.277+1657A>T (n.277+1657A>T) n.603A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254654T>C | CA280274 | MEFV | c.414A>G (p.Gly138=) c.277+1657A>G (n.277+1657A>G) n.603A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254654T>G | CA493384535 | MEFV | c.414A>C (p.Gly138=) c.277+1657A>C (n.277+1657A>C) n.603A>C | |
| 16 | g.3254654T= | CA2202664941 | MEFV | c.414A= (p.Gly138=) c.277+1657A= (n.277+1657A=) n.603A= | |
| 16 | g.3254655C>A | CA394481673 | MEFV | c.413G>T (p.Gly138Val) c.277+1656G>T (n.277+1656G>T) n.602G>T | |
| 16 | g.3254655C= | CA2202664942 | MEFV | c.413G= (p.Gly138=) c.277+1656G= (n.277+1656G=) n.602G= | |
| 16 | g.3254655C>G | CA394481675 | MEFV | c.413G>C (p.Gly138Ala) c.277+1656G>C (n.277+1656G>C) n.602G>C | dbSNP gnomAD v4 |
| 16 | g.3254655C>T | CA7860433 | MEFV | c.413G>A (p.Gly138Glu) c.277+1656G>A (n.277+1656G>A) n.602G>A | dbSNP ExAC gnomAD v2 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= |