| 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.3254642_3254644delinsCAG | CA2202664930 | MEFV | c.424_426delinsCTG (p.Leu142=) c.277+1667_277+1669delinsCTG (n.277+1667_277+1669delinsCTG) n.613_615delinsCTG | |
| 16 | g.3254643A= | CA2202664932 | MEFV | c.425T= (p.Leu142=) c.277+1668T= (n.277+1668T=) n.614T= | |
| 16 | g.3254643A>C | CA394481615 | MEFV | c.425T>G (p.Leu142Arg) c.277+1668T>G (n.277+1668T>G) n.614T>G | gnomAD v4 |
| 16 | g.3254643A>G | CA394481618 | MEFV | c.425T>C (p.Leu142Pro) c.277+1668T>C (n.277+1668T>C) n.614T>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254643A>T | CA394481622 | MEFV | c.425T>A (p.Leu142Gln) c.277+1668T>A (n.277+1668T>A) n.614T>A | gnomAD v4 |
| 16 | g.3254643_3254644del | CA2202664931 | MEFV | c.424_425del (p.Leu142AlafsTer?) c.277+1667_277+1668del (n.277+1667_277+1668del) n.613_614del | dbSNP gnomAD v4 |
| 16 | g.3254644G>A | CA493384360 | MEFV | c.424C>T (p.Leu142=) c.277+1667C>T (n.277+1667C>T) n.613C>T | gnomAD v4 |
| 16 | g.3254644G>C | CA394481625 | MEFV | c.424C>G (p.Leu142Val) c.277+1667C>G (n.277+1667C>G) n.613C>G | |
| 16 | g.3254644G>T | CA394481628 | MEFV | c.424C>A (p.Leu142Met) c.277+1667C>A (n.277+1667C>A) n.613C>A | |
| 16 | g.3254645G>A | CA493384363 | MEFV | c.423C>T (p.Ser141=) c.277+1666C>T (n.277+1666C>T) n.612C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254645G>C | CA394481632 | MEFV | c.423C>G (p.Ser141Arg) c.277+1666C>G (n.277+1666C>G) n.612C>G | gnomAD v4 |
| 16 | g.3254645G= | CA2202664933 | MEFV | c.423C= (p.Ser141=) c.277+1666C= (n.277+1666C=) n.612C= | |
| 16 | g.3254645G>T | CA394481635 | MEFV | c.423C>A (p.Ser141Arg) c.277+1666C>A (n.277+1666C>A) n.612C>A | gnomAD v4 |
| 16 | g.3254646C>A | CA280601 | MEFV | c.422G>T (p.Ser141Ile) c.277+1665G>T (n.277+1665G>T) n.611G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254646C= | CA2202664934 | MEFV | c.422G= (p.Ser141=) c.277+1665G= (n.277+1665G=) n.611G= | |
| 16 | g.3254646C>G | CA394481640 | MEFV | c.422G>C (p.Ser141Thr) c.277+1665G>C (n.277+1665G>C) n.611G>C | |
| 16 | g.3254646C>T | CA394481642 | MEFV | c.422G>A (p.Ser141Asn) c.277+1665G>A (n.277+1665G>A) n.611G>A | |
| 16 | g.3254647T>A | CA394481645 | MEFV | c.421A>T (p.Ser141Cys) c.277+1664A>T (n.277+1664A>T) n.610A>T | |
| 16 | g.3254647T>C | CA394481649 | MEFV | c.421A>G (p.Ser141Gly) c.277+1664A>G (n.277+1664A>G) n.610A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254647T>G | CA394481650 | MEFV | c.421A>C (p.Ser141Arg) c.277+1664A>C (n.277+1664A>C) n.610A>C | |
| 16 | g.3254647T= | CA2202664935 | MEFV | c.421A= (p.Ser141=) c.277+1664A= (n.277+1664A=) n.610A= | |
| 16 | g.3254648G>A | CA493384371 | MEFV | c.420C>T (p.Ala140=) c.277+1663C>T (n.277+1663C>T) n.609C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254648G>C | CA493384373 | MEFV | c.420C>G (p.Ala140=) c.277+1663C>G (n.277+1663C>G) n.609C>G | |
| 16 | g.3254648G= | CA2202664936 | MEFV | c.420C= (p.Ala140=) c.277+1663C= (n.277+1663C=) n.609C= | |
| 16 | g.3254648G>T | CA493384374 | MEFV | c.420C>A (p.Ala140=) c.277+1663C>A (n.277+1663C>A) n.609C>A | |
| 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 |