Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3254366_3254369dup | CA2631354504 | MEFV | c.699_702dup (p.Ser235AlafsTer8) c.277+1942_277+1945dup (n.277+1942_277+1945dup) n.888_891dup | gnomAD v4 |
16 | g.3254368G>A | CA276902370 | MEFV | c.700C>T (p.Pro234Ser) c.277+1943C>T (n.277+1943C>T) n.889C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3254368G>C | CA394478339 | MEFV | c.700C>G (p.Pro234Ala) c.277+1943C>G (n.277+1943C>G) n.889C>G | |
16 | g.3254368G= | CA2202664730 | MEFV | c.700C= (p.Pro234=) c.277+1943C= (n.277+1943C=) n.889C= | |
16 | g.3254368G>T | CA394478346 | MEFV | c.700C>A (p.Pro234Thr) c.277+1943C>A (n.277+1943C>A) n.889C>A | |
16 | g.3254369_3254371dup | CA2695222720 | MEFV | c.698_700dup (p.Leu233_Pro234insLeu) c.277+1941_277+1943dup (n.277+1941_277+1943dup) n.887_889dup | |
16 | g.3254369C>A | CA493384188 | MEFV | c.699G>T (p.Leu233=) c.277+1942G>T (n.277+1942G>T) n.888G>T | |
16 | g.3254369C>G | CA493384190 | MEFV | c.699G>C (p.Leu233=) c.277+1942G>C (n.277+1942G>C) n.888G>C | |
16 | g.3254369C>T | CA493384191 | MEFV | c.699G>A (p.Leu233=) c.277+1942G>A (n.277+1942G>A) n.888G>A | ClinVar dbSNP |
16 | g.3254370A= | CA2202664731 | MEFV | c.698T= (p.Leu233=) c.277+1941T= (n.277+1941T=) n.887T= | |
16 | g.3254370A>C | CA394478348 | MEFV | c.698T>G (p.Leu233Arg) c.277+1941T>G (n.277+1941T>G) n.887T>G | |
16 | g.3254370A>G | CA394478350 | MEFV | c.698T>C (p.Leu233Pro) c.277+1941T>C (n.277+1941T>C) n.887T>C | dbSNP |
16 | g.3254370A>T | CA394478347 | MEFV | c.698T>A (p.Leu233Gln) c.277+1941T>A (n.277+1941T>A) n.887T>A | |
16 | g.3254371G>A | CA493384196 | MEFV | c.697C>T (p.Leu233=) c.277+1940C>T (n.277+1940C>T) n.886C>T | ClinVar dbSNP gnomAD v4 |
16 | g.3254371G>C | CA394478357 | MEFV | c.697C>G (p.Leu233Val) c.277+1940C>G (n.277+1940C>G) n.886C>G | |
16 | g.3254371G>T | CA394478360 | MEFV | c.697C>A (p.Leu233Met) c.277+1940C>A (n.277+1940C>A) n.886C>A | gnomAD v4 |
16 | g.3254372G>A | CA493384197 | MEFV | c.696C>T (p.Tyr232=) c.277+1939C>T (n.277+1939C>T) n.885C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3254372G>C | CA394478362 | MEFV | c.696C>G (p.Tyr232Ter) c.277+1939C>G (n.277+1939C>G) n.885C>G | dbSNP |
16 | g.3254372G= | CA2202664732 | MEFV | c.696C= (p.Tyr232=) c.277+1939C= (n.277+1939C=) n.885C= | |
16 | g.3254372G>T | CA394478365 | MEFV | c.696C>A (p.Tyr232Ter) c.277+1939C>A (n.277+1939C>A) n.885C>A | |
16 | g.3254373T>A | CA394478394 | MEFV | c.695A>T (p.Tyr232Phe) c.277+1938A>T (n.277+1938A>T) n.884A>T | gnomAD v4 |
16 | g.3254373T>C | CA394478384 | MEFV | c.695A>G (p.Tyr232Cys) c.277+1938A>G (n.277+1938A>G) n.884A>G | |
16 | g.3254373T>G | CA394478368 | MEFV | c.695A>C (p.Tyr232Ser) c.277+1938A>C (n.277+1938A>C) n.884A>C | |
16 | g.3254374A= | CA2202664733 | MEFV | c.694T= (p.Tyr232=) c.277+1937T= (n.277+1937T=) n.883T= | |
16 | g.3254374A>C | CA394478399 | MEFV | c.694T>G (p.Tyr232Asp) c.277+1937T>G (n.277+1937T>G) n.883T>G | |
16 | g.3254374A>G | CA280641 | MEFV | c.694T>C (p.Tyr232His) c.277+1937T>C (n.277+1937T>C) n.883T>C | ClinVar dbSNP |
16 | g.3254374A>T | CA394478405 | MEFV | c.694T>A (p.Tyr232Asn) c.277+1937T>A (n.277+1937T>A) n.883T>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3254375C>A | CA493384204 | MEFV | c.693G>T (p.Val231=) c.277+1936G>T (n.277+1936G>T) n.882G>T | ClinVar dbSNP |
16 | g.3254375C= | CA2202664734 | MEFV | c.693G= (p.Val231=) c.277+1936G= (n.277+1936G=) n.882G= | |
16 | g.3254375C>G | CA276902376 | MEFV | c.693G>C (p.Val231=) c.277+1936G>C (n.277+1936G>C) n.882G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3254375C>T | CA493384206 | MEFV | c.693G>A (p.Val231=) c.277+1936G>A (n.277+1936G>A) n.882G>A | |
16 | g.3254376A= | CA2202664735 | MEFV | c.692T= (p.Val231=) c.277+1935T= (n.277+1935T=) n.881T= | |
16 | g.3254376A>C | CA394478408 | MEFV | c.692T>G (p.Val231Gly) c.277+1935T>G (n.277+1935T>G) n.881T>G | |
16 | g.3254376A>G | CA7860349 | MEFV | c.692T>C (p.Val231Ala) c.277+1935T>C (n.277+1935T>C) n.881T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3254376A>T | CA394478412 | MEFV | c.692T>A (p.Val231Glu) c.277+1935T>A (n.277+1935T>A) n.881T>A | |
16 | g.3254377C>A | CA394478424 | MEFV | c.691G>T (p.Val231Leu) c.277+1934G>T (n.277+1934G>T) n.880G>T | |
16 | g.3254377C>G | CA394478415 | MEFV | c.691G>C (p.Val231Leu) c.277+1934G>C (n.277+1934G>C) n.880G>C | |
16 | g.3254377C>T | CA394478420 | MEFV | c.691G>A (p.Val231Met) c.277+1934G>A (n.277+1934G>A) n.880G>A | |
16 | g.3254378T>A | CA394478430 | MEFV | c.690A>T (p.Glu230Asp) c.277+1933A>T (n.277+1933A>T) n.879A>T | |
16 | g.3254378T>C | CA493384214 | MEFV | c.690A>G (p.Glu230=) c.277+1933A>G (n.277+1933A>G) n.879A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3254378T>G | CA7860350 | MEFV | c.690A>C (p.Glu230Asp) c.277+1933A>C (n.277+1933A>C) n.879A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3254378T= | CA2202664736 | MEFV | c.690A= (p.Glu230=) c.277+1933A= (n.277+1933A=) n.879A= | |
16 | g.3254379T>A | CA394478432 | MEFV | c.689A>T (p.Glu230Val) c.277+1932A>T (n.277+1932A>T) n.878A>T | |
16 | g.3254379T>C | CA394478439 | MEFV | c.689A>G (p.Glu230Gly) c.277+1932A>G (n.277+1932A>G) n.878A>G | |
16 | g.3254379T>G | CA394478441 | MEFV | c.689A>C (p.Glu230Ala) c.277+1932A>C (n.277+1932A>C) n.878A>C | |
16 | g.3254380C>A | CA394478445 | MEFV | c.688G>T (p.Glu230Ter) c.277+1931G>T (n.277+1931G>T) n.877G>T | ClinVar dbSNP COSMIC |
16 | g.3254380C= | CA2202664737 | MEFV | c.688G= (p.Glu230=) c.277+1931G= (n.277+1931G=) n.877G= | |
16 | g.3254380C>G | CA280332 | MEFV | c.688G>C (p.Glu230Gln) c.277+1931G>C (n.277+1931G>C) n.877G>C | ClinVar dbSNP |
16 | g.3254380C>T | CA280639 | MEFV | c.688G>A (p.Glu230Lys) c.277+1931G>A (n.277+1931G>A) n.877G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3254381G>A | CA493384218 | MEFV | c.687C>T (p.Phe229=) c.277+1930C>T (n.277+1930C>T) n.876C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |