| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254355A>C | CA394478213 | MEFV | c.713T>G (p.Met238Arg) c.277+1956T>G (n.277+1956T>G) n.902T>G | |
| 16 | g.3254355A>G | CA394478221 | MEFV | c.713T>C (p.Met238Thr) c.277+1956T>C (n.277+1956T>C) n.902T>C | |
| 16 | g.3254355A>T | CA394478224 | MEFV | c.713T>A (p.Met238Lys) c.277+1956T>A (n.277+1956T>A) n.902T>A | |
| 16 | g.3254356T>A | CA394478233 | MEFV | c.712A>T (p.Met238Leu) c.277+1955A>T (n.277+1955A>T) n.901A>T | |
| 16 | g.3254356T>C | CA394478237 | MEFV | c.712A>G (p.Met238Val) c.277+1955A>G (n.277+1955A>G) n.901A>G | gnomAD v4 |
| 16 | g.3254356T>G | CA394478238 | MEFV | c.712A>C (p.Met238Leu) c.277+1955A>C (n.277+1955A>C) n.901A>C | |
| 16 | g.3254357C>A | CA276902347 | MEFV | c.711G>T (p.Lys237Asn) c.277+1954G>T (n.277+1954G>T) n.900G>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.3254357C= | CA2202664723 | MEFV | c.711G= (p.Lys237=) c.277+1954G= (n.277+1954G=) n.900G= | |
| 16 | g.3254357C>G | CA394478239 | MEFV | c.711G>C (p.Lys237Asn) c.277+1954G>C (n.277+1954G>C) n.900G>C | |
| 16 | g.3254357C>T | CA493384165 | MEFV | c.711G>A (p.Lys237=) c.277+1954G>A (n.277+1954G>A) n.900G>A | |
| 16 | g.3254358T>A | CA394478252 | MEFV | c.710A>T (p.Lys237Met) c.277+1953A>T (n.277+1953A>T) n.899A>T | |
| 16 | g.3254358T>C | CA394478257 | MEFV | c.710A>G (p.Lys237Arg) c.277+1953A>G (n.277+1953A>G) n.899A>G | gnomAD v4 |
| 16 | g.3254358T>G | CA394478259 | MEFV | c.710A>C (p.Lys237Thr) c.277+1953A>C (n.277+1953A>C) n.899A>C | |
| 16 | g.3254359T>A | CA394478263 | MEFV | c.709A>T (p.Lys237Ter) c.277+1952A>T (n.277+1952A>T) n.898A>T | |
| 16 | g.3254359T>C | CA7860345 | MEFV | c.709A>G (p.Lys237Glu) c.277+1952A>G (n.277+1952A>G) n.898A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3254359T>G | CA394478271 | MEFV | c.709A>C (p.Lys237Gln) c.277+1952A>C (n.277+1952A>C) n.898A>C | |
| 16 | g.3254359T= | CA2202664724 | MEFV | c.709A= (p.Lys237=) c.277+1952A= (n.277+1952A=) n.898A= | |
| 16 | g.3254360T>A | CA493384171 | MEFV | c.708A>T (p.Gly236=) c.277+1951A>T (n.277+1951A>T) n.897A>T | |
| 16 | g.3254360T>C | CA493384172 | MEFV | c.708A>G (p.Gly236=) c.277+1951A>G (n.277+1951A>G) n.897A>G | gnomAD v4 |
| 16 | g.3254360T>G | CA493384173 | MEFV | c.708A>C (p.Gly236=) c.277+1951A>C (n.277+1951A>C) n.897A>C | |
| 16 | g.3254361C>A | CA280644 | MEFV | c.707G>T (p.Gly236Val) c.277+1950G>T (n.277+1950G>T) n.896G>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.3254361C= | CA2202664725 | MEFV | c.707G= (p.Gly236=) c.277+1950G= (n.277+1950G=) n.896G= | |
| 16 | g.3254361C>G | CA394478278 | MEFV | c.707G>C (p.Gly236Ala) c.277+1950G>C (n.277+1950G>C) n.896G>C | |
| 16 | g.3254361C>T | CA394478282 | MEFV | c.707G>A (p.Gly236Glu) c.277+1950G>A (n.277+1950G>A) n.896G>A | COSMIC |
| 16 | g.3254363del | CA2631354495 | MEFV | c.707del (p.Gly236GlufsTer26) c.277+1950del (n.277+1950del) n.896del | gnomAD v4 |
| 16 | g.3254362C>A | CA394478284 | MEFV | c.706G>T (p.Gly236Ter) c.277+1949G>T (n.277+1949G>T) n.895G>T | |
| 16 | g.3254362C= | CA2202664726 | MEFV | c.706G= (p.Gly236=) c.277+1949G= (n.277+1949G=) n.895G= | |
| 16 | g.3254362C>G | CA394478292 | MEFV | c.706G>C (p.Gly236Arg) c.277+1949G>C (n.277+1949G>C) n.895G>C | |
| 16 | g.3254362C>T | CA394478295 | MEFV | c.706G>A (p.Gly236Arg) c.277+1949G>A (n.277+1949G>A) n.895G>A | COSMIC |
| 16 | g.3254362_3254363insG | CA276902364 | MEFV | c.705_706insC (p.Gly236ArgfsTer6) c.277+1948_277+1949insC (n.277+1948_277+1949insC) n.894_895insC | dbSNP |
| 16 | g.3254363C>A | CA7860347 | MEFV | c.705G>T (p.Ser235=) c.277+1948G>T (n.277+1948G>T) n.894G>T | dbSNP ExAC gnomAD v2 |
| 16 | g.3254363C= | CA2202664727 | MEFV | c.705G= (p.Ser235=) c.277+1948G= (n.277+1948G=) n.894G= | |
| 16 | g.3254363C>G | CA493384176 | MEFV | c.705G>C (p.Ser235=) c.277+1948G>C (n.277+1948G>C) n.894G>C | |
| 16 | g.3254363C>T | CA7860346 | MEFV | c.705G>A (p.Ser235=) c.277+1948G>A (n.277+1948G>A) n.894G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3254364G>A | CA7860348 | MEFV | c.704C>T (p.Ser235Leu) c.277+1947C>T (n.277+1947C>T) n.893C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3254364G>C | CA394478311 | MEFV | c.704C>G (p.Ser235Trp) c.277+1947C>G (n.277+1947C>G) n.893C>G | |
| 16 | g.3254364G= | CA2202664728 | MEFV | c.704C= (p.Ser235=) c.277+1947C= (n.277+1947C=) n.893C= | |
| 16 | g.3254364G>T | CA394478314 | MEFV | c.704C>A (p.Ser235Ter) c.277+1947C>A (n.277+1947C>A) n.893C>A | gnomAD v4 |
| 16 | g.3254365A>C | CA394478325 | MEFV | c.703T>G (p.Ser235Ala) c.277+1946T>G (n.277+1946T>G) n.892T>G | |
| 16 | g.3254365A>G | CA394478329 | MEFV | c.703T>C (p.Ser235Pro) c.277+1946T>C (n.277+1946T>C) n.892T>C | |
| 16 | g.3254365A>T | CA394478332 | MEFV | c.703T>A (p.Ser235Thr) c.277+1946T>A (n.277+1946T>A) n.892T>A | |
| 16 | g.3254366G>A | CA493384178 | MEFV | c.702C>T (p.Pro234=) c.277+1945C>T (n.277+1945C>T) n.891C>T | ClinVar dbSNP |
| 16 | g.3254366G>C | CA493384180 | MEFV | c.702C>G (p.Pro234=) c.277+1945C>G (n.277+1945C>G) n.891C>G | ClinVar gnomAD v4 |
| 16 | g.3254366G>T | CA493384184 | MEFV | c.702C>A (p.Pro234=) c.277+1945C>A (n.277+1945C>A) n.891C>A | |
| 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.3254367G>A | CA276902367 | MEFV | c.701C>T (p.Pro234Leu) c.277+1944C>T (n.277+1944C>T) n.890C>T | dbSNP gnomAD v4 |
| 16 | g.3254367G>C | CA394478335 | MEFV | c.701C>G (p.Pro234Arg) c.277+1944C>G (n.277+1944C>G) n.890C>G | |
| 16 | g.3254367G= | CA2202664729 | MEFV | c.701C= (p.Pro234=) c.277+1944C= (n.277+1944C=) n.890C= | |
| 16 | g.3254367G>T | CA394478336 | MEFV | c.701C>A (p.Pro234His) c.277+1944C>A (n.277+1944C>A) n.890C>A | |
| 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 |