Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 | |
16 | g.3254461G>C | CA394479145 | MEFV | c.607C>G (p.Leu203Val) c.277+1850C>G (n.277+1850C>G) n.796C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3254461G= | CA2202664798 | MEFV | c.607C= (p.Leu203=) c.277+1850C= (n.277+1850C=) n.796C= | |
16 | g.3254461G>T | CA394479152 | MEFV | c.607C>A (p.Leu203Met) c.277+1850C>A (n.277+1850C>A) n.796C>A | |
16 | g.3254462C>A | CA493384448 | MEFV | c.606G>T (p.Arg202=) c.277+1849G>T (n.277+1849G>T) n.795G>T | |
16 | g.3254462C= | CA2202664799 | MEFV | c.606G= (p.Arg202=) c.277+1849G= (n.277+1849G=) n.795G= | |
16 | g.3254462C>G | CA493384450 | MEFV | c.606G>C (p.Arg202=) c.277+1849G>C (n.277+1849G>C) n.795G>C | dbSNP |
16 | g.3254462C>T | CA493384451 | MEFV | c.606G>A (p.Arg202=) c.277+1849G>A (n.277+1849G>A) n.795G>A | |
16 | g.3254463C>A | CA394479156 | MEFV | c.605G>T (p.Arg202Leu) c.277+1848G>T (n.277+1848G>T) n.794G>T | |
16 | g.3254463C= | CA2202664800 | MEFV | c.605G= (p.Arg202=) c.277+1848G= (n.277+1848G=) n.794G= | |
16 | g.3254463C>G | CA394479160 | MEFV | c.605G>C (p.Arg202Pro) c.277+1848G>C (n.277+1848G>C) n.794G>C | gnomAD v4 |
16 | g.3254463C>T | CA201521 | MEFV | c.605G>A (p.Arg202Gln) c.277+1848G>A (n.277+1848G>A) n.794G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3254464G>A | CA394479163 | MEFV | c.604C>T (p.Arg202Trp) c.277+1847C>T (n.277+1847C>T) n.793C>T | dbSNP gnomAD v4 COSMIC |
16 | g.3254464G>C | CA394479164 | MEFV | c.604C>G (p.Arg202Gly) c.277+1847C>G (n.277+1847C>G) n.793C>G | dbSNP gnomAD v2 |
16 | g.3254464G= | CA2202664801 | MEFV | c.604C= (p.Arg202=) c.277+1847C= (n.277+1847C=) n.793C= | |
16 | g.3254464G>T | CA493384455 | MEFV | c.604C>A (p.Arg202=) c.277+1847C>A (n.277+1847C>A) n.793C>A | |
16 | g.3254465G>A | CA493384458 | MEFV | c.603C>T (p.Val201=) c.277+1846C>T (n.277+1846C>T) n.792C>T | |
16 | g.3254465G>C | CA493384459 | MEFV | c.603C>G (p.Val201=) c.277+1846C>G (n.277+1846C>G) n.792C>G | |
16 | g.3254465G>T | CA493384457 | MEFV | c.603C>A (p.Val201=) c.277+1846C>A (n.277+1846C>A) n.792C>A | gnomAD v4 |
16 | g.3254465_3254467delinsGAC | CA2202664802 | MEFV | c.601_603delinsGTC (p.Val201=) c.277+1844_277+1846delinsGTC (n.277+1844_277+1846delinsGTC) n.790_792delinsGTC | |
16 | g.3254466A>C | CA394479174 | MEFV | c.602T>G (p.Val201Gly) c.277+1845T>G (n.277+1845T>G) n.791T>G | |
16 | g.3254466A>G | CA394479167 | MEFV | c.602T>C (p.Val201Ala) c.277+1845T>C (n.277+1845T>C) n.791T>C | |
16 | g.3254466A>T | CA394479171 | MEFV | c.602T>A (p.Val201Asp) c.277+1845T>A (n.277+1845T>A) n.791T>A | |
16 | g.3254466_3254467del | CA7860380 | MEFV | c.601_602del (p.Val201ProfsTer?) c.277+1844_277+1845del (n.277+1844_277+1845del) n.790_791del | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3254467C>A | CA394479176 | MEFV | c.601G>T (p.Val201Phe) c.277+1844G>T (n.277+1844G>T) n.790G>T | |
16 | g.3254467C>G | CA394479178 | MEFV | c.601G>C (p.Val201Leu) c.277+1844G>C (n.277+1844G>C) n.790G>C | |
16 | g.3254467C>T | CA394479188 | MEFV | c.601G>A (p.Val201Ile) c.277+1844G>A (n.277+1844G>A) n.790G>A | |
16 | g.3254468C>A | CA394479198 | MEFV | c.600G>T (p.Glu200Asp) c.277+1843G>T (n.277+1843G>T) n.789G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3254468C= | CA2202664803 | MEFV | c.600G= (p.Glu200=) c.277+1843G= (n.277+1843G=) n.789G= | |
16 | g.3254468C>G | CA394479202 | MEFV | c.600G>C (p.Glu200Asp) c.277+1843G>C (n.277+1843G>C) n.789G>C | |
16 | g.3254468C>T | CA493384462 | MEFV | c.600G>A (p.Glu200=) c.277+1843G>A (n.277+1843G>A) n.789G>A | gnomAD v4 |
16 | g.3254468_3254469insGTT | CA7860381 | MEFV | c.599_600insAAC (p.Glu200_Val201insThr) c.277+1842_277+1843insAAC (n.277+1842_277+1843insAAC) n.788_789insAAC | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3254469T>A | CA394479208 | MEFV | c.599A>T (p.Glu200Val) c.277+1842A>T (n.277+1842A>T) n.788A>T |