| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254537G>A | CA493384193 | MEFV | c.531C>T (p.Thr177=) c.277+1774C>T (p.=) n.277+1774C>T (p.=) n.531C>T (p.Thr177=) | |
| 16 | g.3254537G>C | CA493384194 | MEFV | c.531C>G (p.Thr177=) c.277+1774C>G (p.=) n.277+1774C>G (p.=) n.531C>G (p.Thr177=) | |
| 16 | g.3254537G>T | CA493384195 | MEFV | c.531C>A (p.Thr177=) c.277+1774C>A (p.=) n.277+1774C>A (p.=) n.531C>A (p.Thr177=) | |
| 16 | g.3254538G>A | CA280618 | MEFV | c.530C>T (p.Thr177Ile) c.277+1773C>T (p.=) n.277+1773C>T (p.=) n.530C>T (p.Thr177Ile) | ClinVar dbSNP gnomAD |
| 16 | g.3254538G>C | CA394480942 | MEFV | c.530C>G (p.Thr177Ser) c.277+1773C>G (p.=) n.277+1773C>G (p.=) n.530C>G (p.Thr177Ser) | |
| 16 | g.3254538G>T | CA394480944 | MEFV | c.530C>A (p.Thr177Asn) c.277+1773C>A (p.=) n.277+1773C>A (p.=) n.530C>A (p.Thr177Asn) | |
| 16 | g.3254539T>A | CA394480951 | MEFV | c.529A>T (p.Thr177Ser) c.277+1772A>T (p.=) n.277+1772A>T (p.=) n.529A>T (p.Thr177Ser) | |
| 16 | g.3254539T>C | CA394480949 | MEFV | c.529A>G (p.Thr177Ala) c.277+1772A>G (p.=) n.277+1772A>G (p.=) n.529A>G (p.Thr177Ala) | |
| 16 | g.3254539T>G | CA394480947 | MEFV | c.529A>C (p.Thr177Pro) c.277+1772A>C (p.=) n.277+1772A>C (p.=) n.529A>C (p.Thr177Pro) | |
| 16 | g.3254539dup | CA620713359 | MEFV | c.529dup (p.Thr177AsnfsTer?) c.277+1772dup (p.=) n.277+1772dup (p.=) n.529dup (p.Thr177AsnfsTer?) | dbSNP gnomAD |
| 16 | g.3254540C>A | CA493384199 | MEFV | c.528G>T (p.Arg176=) c.277+1771G>T (p.=) n.277+1771G>T (p.=) n.528G>T (p.Arg176=) | |
| 16 | g.3254540C>G | CA493384201 | MEFV | c.528G>C (p.Arg176=) c.277+1771G>C (p.=) n.277+1771G>C (p.=) n.528G>C (p.Arg176=) | |
| 16 | g.3254540C>T | CA493384203 | MEFV | c.528G>A (p.Arg176=) c.277+1771G>A (p.=) n.277+1771G>A (p.=) n.528G>A (p.Arg176=) | gnomAD |
| 16 | g.3254540del | CA620713360 | MEFV | c.527del (p.Thr177ProfsTer18) c.277+1770del (p.=) n.277+1770del (p.=) n.527del (p.Thr177ProfsTer18) | dbSNP gnomAD |
| 16 | g.3254541C>A | CA394480956 | MEFV | c.527G>T (p.Arg176Leu) c.277+1770G>T (p.=) n.277+1770G>T (p.=) n.527G>T (p.Arg176Leu) | |
| 16 | g.3254541C>G | CA394480953 | MEFV | c.527G>C (p.Arg176Pro) c.277+1770G>C (p.=) n.277+1770G>C (p.=) n.527G>C (p.Arg176Pro) | |
| 16 | g.3254541C>T | CA394480958 | MEFV | c.527G>A (p.Arg176Gln) c.277+1770G>A (p.=) n.277+1770G>A (p.=) n.527G>A (p.Arg176Gln) | gnomAD |
| 16 | g.3254542G>A | CA394480960 | MEFV | c.526C>T (p.Arg176Trp) c.277+1769C>T (p.=) n.277+1769C>T (p.=) n.526C>T (p.Arg176Trp) | COSMIC |
| 16 | g.3254542G>C | CA394480961 | MEFV | c.526C>G (p.Arg176Gly) c.277+1769C>G (p.=) n.277+1769C>G (p.=) n.526C>G (p.Arg176Gly) | |
| 16 | g.3254542G>T | CA493384207 | MEFV | c.526C>A (p.Arg176=) c.277+1769C>A (p.=) n.277+1769C>A (p.=) n.526C>A (p.Arg176=) | |
| 16 | g.3254543A>C | CA493384209 | MEFV | c.525T>G (p.Pro175=) c.277+1768T>G (p.=) n.277+1768T>G (p.=) n.525T>G (p.Pro175=) | |
| 16 | g.3254543A>G | CA493384212 | MEFV | c.525T>C (p.Pro175=) c.277+1768T>C (p.=) n.277+1768T>C (p.=) n.525T>C (p.Pro175=) | |
| 16 | g.3254543A>T | CA493384213 | MEFV | c.525T>A (p.Pro175=) c.277+1768T>A (p.=) n.277+1768T>A (p.=) n.525T>A (p.Pro175=) | |
| 16 | g.3254544G>A | CA394480963 | MEFV | c.524C>T (p.Pro175Leu) c.277+1767C>T (p.=) n.277+1767C>T (p.=) n.524C>T (p.Pro175Leu) | |
| 16 | g.3254544G>C | CA394480965 | MEFV | c.524C>G (p.Pro175Arg) c.277+1767C>G (p.=) n.277+1767C>G (p.=) n.524C>G (p.Pro175Arg) | |
| 16 | g.3254544G>T | CA280615 | MEFV | c.524C>A (p.Pro175His) c.277+1767C>A (p.=) n.277+1767C>A (p.=) n.524C>A (p.Pro175His) | ClinVar dbSNP ExAC gnomAD |
| 16 | g.3254545G>A | CA276902735 | MEFV | c.523C>T (p.Pro175Ser) c.277+1766C>T (p.=) n.277+1766C>T (p.=) n.523C>T (p.Pro175Ser) | dbSNP gnomAD |
| 16 | g.3254545G>C | CA394480974 | MEFV | c.523C>G (p.Pro175Ala) c.277+1766C>G (p.=) n.277+1766C>G (p.=) n.523C>G (p.Pro175Ala) | |
| 16 | g.3254545G>T | CA394480975 | MEFV | c.523C>A (p.Pro175Thr) c.277+1766C>A (p.=) n.277+1766C>A (p.=) n.523C>A (p.Pro175Thr) | gnomAD |
| 16 | g.3254546C>A | CA394480981 | MEFV | c.522G>T (p.Lys174Asn) c.277+1765G>T (p.=) n.277+1765G>T (p.=) n.522G>T (p.Lys174Asn) | |
| 16 | g.3254546C>G | CA394480979 | MEFV | c.522G>C (p.Lys174Asn) c.277+1765G>C (p.=) n.277+1765G>C (p.=) n.522G>C (p.Lys174Asn) | |
| 16 | g.3254546C>T | CA493384219 | MEFV | c.522G>A (p.Lys174=) c.277+1765G>A (p.=) n.277+1765G>A (p.=) n.522G>A (p.Lys174=) | |
| 16 | g.3254547T>A | CA394480982 | MEFV | c.521A>T (p.Lys174Met) c.277+1764A>T (p.=) n.277+1764A>T (p.=) n.521A>T (p.Lys174Met) | |
| 16 | g.3254547T>C | CA394480983 | MEFV | c.521A>G (p.Lys174Arg) c.277+1764A>G (p.=) n.277+1764A>G (p.=) n.521A>G (p.Lys174Arg) | |
| 16 | g.3254547T>G | CA394480985 | MEFV | c.521A>C (p.Lys174Thr) c.277+1764A>C (p.=) n.277+1764A>C (p.=) n.521A>C (p.Lys174Thr) | |
| 16 | g.3254548T>A | CA394480988 | MEFV | c.520A>T (p.Lys174Ter) c.277+1763A>T (p.=) n.277+1763A>T (p.=) n.520A>T (p.Lys174Ter) | |
| 16 | g.3254548T>C | CA394480989 | MEFV | c.520A>G (p.Lys174Glu) c.277+1763A>G (p.=) n.277+1763A>G (p.=) n.520A>G (p.Lys174Glu) | gnomAD |
| 16 | g.3254548T>G | CA7860404 | MEFV | c.520A>C (p.Lys174Gln) c.277+1763A>C (p.=) n.277+1763A>C (p.=) n.520A>C (p.Lys174Gln) | dbSNP ExAC gnomAD |
| 16 | g.3254549G>A | CA493384226 | MEFV | c.519C>T (p.Gly173=) c.277+1762C>T (p.=) n.277+1762C>T (p.=) n.519C>T (p.Gly173=) | |
| 16 | g.3254549G>C | CA493384224 | MEFV | c.519C>G (p.Gly173=) c.277+1762C>G (p.=) n.277+1762C>G (p.=) n.519C>G (p.Gly173=) | |
| 16 | g.3254549G>T | CA493384225 | MEFV | c.519C>A (p.Gly173=) c.277+1762C>A (p.=) n.277+1762C>A (p.=) n.519C>A (p.Gly173=) | |
| 16 | g.3254550C>A | CA394480996 | MEFV | c.518G>T (p.Gly173Val) c.277+1761G>T (p.=) n.277+1761G>T (p.=) n.518G>T (p.Gly173Val) | |
| 16 | g.3254550C>G | CA394480992 | MEFV | c.518G>C (p.Gly173Ala) c.277+1761G>C (p.=) n.277+1761G>C (p.=) n.518G>C (p.Gly173Ala) | |
| 16 | g.3254550C>T | CA394480994 | MEFV | c.518G>A (p.Gly173Asp) c.277+1761G>A (p.=) n.277+1761G>A (p.=) n.518G>A (p.Gly173Asp) | gnomAD |
| 16 | g.3254551C>A | CA394480998 | MEFV | c.517G>T (p.Gly173Cys) c.277+1760G>T (p.=) n.277+1760G>T (p.=) n.517G>T (p.Gly173Cys) | |
| 16 | g.3254551C>G | CA7860405 | MEFV | c.517G>C (p.Gly173Arg) c.277+1760G>C (p.=) n.277+1760G>C (p.=) n.517G>C (p.Gly173Arg) | dbSNP ExAC gnomAD |
| 16 | g.3254551C>T | CA394481001 | MEFV | c.517G>A (p.Gly173Ser) c.277+1760G>A (p.=) n.277+1760G>A (p.=) n.517G>A (p.Gly173Ser) | |
| 16 | g.3254552C>A | CA394481004 | MEFV | c.516G>T (p.Gln172His) c.277+1759G>T (p.=) n.277+1759G>T (p.=) n.516G>T (p.Gln172His) | |
| 16 | g.3254552C>G | CA394481006 | MEFV | c.516G>C (p.Gln172His) c.277+1759G>C (p.=) n.277+1759G>C (p.=) n.516G>C (p.Gln172His) | |
| 16 | g.3254552C>T | CA493384231 | MEFV | c.516G>A (p.Gln172=) c.277+1759G>A (p.=) n.277+1759G>A (p.=) n.516G>A (p.Gln172=) |