| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254442_3254450del | CA2631354755 | MEFV | c.621_629del (p.Ser208_Ala210del) c.277+1864_277+1872del (n.277+1864_277+1872del) n.810_818del | gnomAD v4 |
| 16 | g.3254447_3254462dup | CA280629 | MEFV | c.606_621dup (p.Ser208AlafsTer?) c.277+1849_277+1864dup (n.277+1849_277+1864dup) n.795_810dup | ClinVar dbSNP |
| 16 | g.3254449C>A | CA394479033 | MEFV | c.619G>T (p.Ala207Ser) c.277+1862G>T (n.277+1862G>T) n.808G>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.3254449C= | CA2202664789 | MEFV | c.619G= (p.Ala207=) c.277+1862G= (n.277+1862G=) n.808G= | |
| 16 | g.3254449C>G | CA394479034 | MEFV | c.619G>C (p.Ala207Pro) c.277+1862G>C (n.277+1862G>C) n.808G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254449C>T | CA394479037 | MEFV | c.619G>A (p.Ala207Thr) c.277+1862G>A (n.277+1862G>A) n.808G>A | gnomAD v4 |
| 16 | g.3254450G>A | CA493384426 | MEFV | c.618C>T (p.Asn206=) c.277+1861C>T (n.277+1861C>T) n.807C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.3254450G>C | CA394479056 | MEFV | c.618C>G (p.Asn206Lys) c.277+1861C>G (n.277+1861C>G) n.807C>G | gnomAD v4 |
| 16 | g.3254450G>T | CA394479054 | MEFV | c.618C>A (p.Asn206Lys) c.277+1861C>A (n.277+1861C>A) n.807C>A | gnomAD v4 |
| 16 | g.3254451T>A | CA394479061 | MEFV | c.617A>T (p.Asn206Ile) c.277+1860A>T (n.277+1860A>T) n.806A>T | |
| 16 | g.3254451T>C | CA394479067 | MEFV | c.617A>G (p.Asn206Ser) c.277+1860A>G (n.277+1860A>G) n.806A>G | |
| 16 | g.3254451T>G | CA394479078 | MEFV | c.617A>C (p.Asn206Thr) c.277+1860A>C (n.277+1860A>C) n.806A>C | |
| 16 | g.3254452T>A | CA394479083 | MEFV | c.616A>T (p.Asn206Tyr) c.277+1859A>T (n.277+1859A>T) n.805A>T | |
| 16 | g.3254452T>C | CA394479084 | MEFV | c.616A>G (p.Asn206Asp) c.277+1859A>G (n.277+1859A>G) n.805A>G | |
| 16 | g.3254452T>G | CA394479085 | MEFV | c.616A>C (p.Asn206His) c.277+1859A>C (n.277+1859A>C) n.805A>C | |
| 16 | g.3254453T>A | CA394479086 | MEFV | c.615A>T (p.Arg205Ser) c.277+1858A>T (n.277+1858A>T) n.804A>T | |
| 16 | g.3254453T>C | CA493384429 | MEFV | c.615A>G (p.Arg205=) c.277+1858A>G (n.277+1858A>G) n.804A>G | |
| 16 | g.3254453T>G | CA394479088 | MEFV | c.615A>C (p.Arg205Ser) c.277+1858A>C (n.277+1858A>C) n.804A>C | |
| 16 | g.3254454C>A | CA394479102 | MEFV | c.614G>T (p.Arg205Ile) c.277+1857G>T (n.277+1857G>T) n.803G>T | |
| 16 | g.3254454C>G | CA394479105 | MEFV | c.614G>C (p.Arg205Thr) c.277+1857G>C (n.277+1857G>C) n.803G>C | |
| 16 | g.3254454C>T | CA394479110 | MEFV | c.614G>A (p.Arg205Lys) c.277+1857G>A (n.277+1857G>A) n.803G>A | COSMIC |
| 16 | g.3254455T>A | CA394479114 | MEFV | c.613A>T (p.Arg205Ter) c.277+1856A>T (n.277+1856A>T) n.802A>T | |
| 16 | g.3254455T>C | CA394479116 | MEFV | c.613A>G (p.Arg205Gly) c.277+1856A>G (n.277+1856A>G) n.802A>G | |
| 16 | g.3254455T>G | CA493384432 | MEFV | c.613A>C (p.Arg205=) c.277+1856A>C (n.277+1856A>C) n.802A>C | |
| 16 | g.3254455T= | CA2202664790 | MEFV | c.613A= (p.Arg205=) c.277+1856A= (n.277+1856A=) n.802A= | |
| 16 | g.3254456G>A | CA276902532 | MEFV | c.612C>T (p.Arg204=) c.277+1855C>T (n.277+1855C>T) n.801C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254456G>C | CA493384436 | MEFV | c.612C>G (p.Arg204=) c.277+1855C>G (n.277+1855C>G) n.801C>G | |
| 16 | g.3254456G= | CA2202664791 | MEFV | c.612C= (p.Arg204=) c.277+1855C= (n.277+1855C=) n.801C= | |
| 16 | g.3254456G>T | CA493384435 | MEFV | c.612C>A (p.Arg204=) c.277+1855C>A (n.277+1855C>A) n.801C>A | |
| 16 | g.3254458_3254459dup | CA720048448 | MEFV | c.611_612dup (p.Arg205AlafsTer?) c.277+1854_277+1855dup (n.277+1854_277+1855dup) n.800_801dup | dbSNP gnomAD v4 |
| 16 | g.3254457C>A | CA394479129 | MEFV | c.611G>T (p.Arg204Leu) c.277+1854G>T (n.277+1854G>T) n.800G>T | ClinVar dbSNP |
| 16 | g.3254457C= | CA2202664792 | MEFV | c.611G= (p.Arg204=) c.277+1854G= (n.277+1854G=) n.800G= | |
| 16 | g.3254457C>G | CA394479128 | MEFV | c.611G>C (p.Arg204Pro) c.277+1854G>C (n.277+1854G>C) n.800G>C | |
| 16 | g.3254457C>T | CA7860378 | MEFV | c.611G>A (p.Arg204His) c.277+1854G>A (n.277+1854G>A) n.800G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254457_3254461delinsCGCAG | CA2202664793 | MEFV | c.607_611delinsCTGCG (p.Leu203=) c.277+1850_277+1854delinsCTGCG (n.277+1850_277+1854delinsCTGCG) n.796_800delinsCTGCG | |
| 16 | g.3254459_3254464dup | CA2202664794 | MEFV | c.606_611dup (p.Arg204_Arg205insLeuArg) c.277+1849_277+1854dup (n.277+1849_277+1854dup) n.795_800dup | dbSNP |
| 16 | g.3254458G>A | CA394479131 | MEFV | c.610C>T (p.Arg204Cys) c.277+1853C>T (n.277+1853C>T) n.799C>T | dbSNP gnomAD v4 COSMIC |
| 16 | g.3254458G>C | CA394479135 | MEFV | c.610C>G (p.Arg204Gly) c.277+1853C>G (n.277+1853C>G) n.799C>G | |
| 16 | g.3254458G= | CA2202664795 | MEFV | c.610C= (p.Arg204=) c.277+1853C= (n.277+1853C=) n.799C= | |
| 16 | g.3254458G>T | CA7860379 | MEFV | c.610C>A (p.Arg204Ser) c.277+1853C>A (n.277+1853C>A) n.799C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3254458_3254461del | CA7860377 | MEFV | c.607_610del (p.Leu203AlafsTer?) c.277+1850_277+1853del (n.277+1850_277+1853del) n.796_799del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3254459C>A | CA493384441 | MEFV | c.609G>T (p.Leu203=) c.277+1852G>T (n.277+1852G>T) n.798G>T | |
| 16 | g.3254459C= | CA2202664796 | MEFV | c.609G= (p.Leu203=) c.277+1852G= (n.277+1852G=) n.798G= | |
| 16 | g.3254459C>G | CA493384442 | MEFV | c.609G>C (p.Leu203=) c.277+1852G>C (n.277+1852G>C) n.798G>C | |
| 16 | g.3254459C>T | CA493384443 | MEFV | c.609G>A (p.Leu203=) c.277+1852G>A (n.277+1852G>A) n.798G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254460A= | CA2202664797 | MEFV | c.608T= (p.Leu203=) c.277+1851T= (n.277+1851T=) n.797T= | |
| 16 | g.3254460A>C | CA394479139 | MEFV | c.608T>G (p.Leu203Arg) c.277+1851T>G (n.277+1851T>G) n.797T>G | |
| 16 | g.3254460A>G | CA394479140 | MEFV | c.608T>C (p.Leu203Pro) c.277+1851T>C (n.277+1851T>C) n.797T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3254460A>T | CA394479141 | MEFV | c.608T>A (p.Leu203Gln) c.277+1851T>A (n.277+1851T>A) n.797T>A | gnomAD v4 |
| 16 | g.3254461G>A | CA493384445 | MEFV | c.607C>T (p.Leu203=) c.277+1850C>T (n.277+1850C>T) n.796C>T |