| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254597_3254641del | CA2631355221 | MEFV | c.428_472del (p.Arg143_Pro157del) c.277+1671_277+1715del (n.277+1671_277+1715del) n.617_661del | gnomAD v4 |
| 16 | g.3254627_3254642dup | CA10577523 | MEFV | c.427_442dup (p.Glu148AlafsTer?) c.277+1670_277+1685dup (n.277+1670_277+1685dup) n.616_631dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.3254640del | CA2202664926 | MEFV | c.429del (p.Cys144AlafsTer15) c.277+1672del (n.277+1672del) n.618del | dbSNP gnomAD v4 |
| 16 | g.3254640C>A | CA394481601 | MEFV | c.428G>T (p.Arg143Leu) c.277+1671G>T (n.277+1671G>T) n.617G>T | gnomAD v4 |
| 16 | g.3254640C= | CA2202664927 | MEFV | c.428G= (p.Arg143=) c.277+1671G= (n.277+1671G=) n.617G= | |
| 16 | g.3254640C>G | CA280604 | MEFV | c.428G>C (p.Arg143Pro) c.277+1671G>C (n.277+1671G>C) n.617G>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.3254640C>T | CA7860428 | MEFV | c.428G>A (p.Arg143Gln) c.277+1671G>A (n.277+1671G>A) n.617G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254641G>A | CA394481611 | MEFV | c.427C>T (p.Arg143Trp) c.277+1670C>T (n.277+1670C>T) n.616C>T | dbSNP gnomAD v4 |
| 16 | g.3254641G>C | CA394481610 | MEFV | c.427C>G (p.Arg143Gly) c.277+1670C>G (n.277+1670C>G) n.616C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3254641G= | CA2202664928 | MEFV | c.427C= (p.Arg143=) c.277+1670C= (n.277+1670C=) n.616C= | |
| 16 | g.3254641G>T | CA7860429 | MEFV | c.427C>A (p.Arg143=) c.277+1670C>A (n.277+1670C>A) n.616C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3254642C>A | CA493384356 | MEFV | c.426G>T (p.Leu142=) c.277+1669G>T (n.277+1669G>T) n.615G>T | |
| 16 | g.3254642C= | CA2202664929 | MEFV | c.426G= (p.Leu142=) c.277+1669G= (n.277+1669G=) n.615G= | |
| 16 | g.3254642C>G | CA493384357 | MEFV | c.426G>C (p.Leu142=) c.277+1669G>C (n.277+1669G>C) n.615G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254642C>T | CA493384358 | MEFV | c.426G>A (p.Leu142=) c.277+1669G>A (n.277+1669G>A) n.615G>A | |
| 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 | 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 |