| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254626C>A | CA394481484 | MEFV | c.442G>T (p.Glu148Ter) c.277+1685G>T (p.=) n.631G>T n.277+1685G>T (p.=) n.442G>T (p.Glu148Ter) | |
| 16 | g.3254626C>G | CA280097 | MEFV | c.442G>C (p.Glu148Gln) c.277+1685G>C (p.=) n.631G>C n.277+1685G>C (p.=) n.442G>C (p.Glu148Gln) | ClinVar dbSNP ExAC gnomAD |
| 16 | g.3254626C>T | CA394481486 | MEFV | c.442G>A (p.Glu148Lys) c.277+1685G>A (p.=) n.631G>A n.277+1685G>A (p.=) n.442G>A (p.Glu148Lys) | gnomAD |
| 16 | g.3254627_3254642dup | CA10577523 | MEFV | c.427_442dup (p.Glu148AlafsTer?) c.277+1670_277+1685dup (p.=) n.616_631dup n.277+1670_277+1685dup (p.=) n.427_442dup (p.Glu148AlafsTer?) | ClinVar dbSNP gnomAD |
| 16 | g.3254627G>A | CA493384327 | MEFV | c.441C>T (p.Pro147=) c.277+1684C>T (p.=) n.630C>T n.277+1684C>T (p.=) n.441C>T (p.Pro147=) | COSMIC |
| 16 | g.3254627G>C | CA493384328 | MEFV | c.441C>G (p.Pro147=) c.277+1684C>G (p.=) n.630C>G n.277+1684C>G (p.=) n.441C>G (p.Pro147=) | |
| 16 | g.3254627G>T | CA493384329 | MEFV | c.441C>A (p.Pro147=) c.277+1684C>A (p.=) n.630C>A n.277+1684C>A (p.=) n.441C>A (p.Pro147=) | |
| 16 | g.3254628G>A | CA394481489 | MEFV | c.440C>T (p.Pro147Leu) c.277+1683C>T (p.=) n.629C>T n.277+1683C>T (p.=) n.440C>T (p.Pro147Leu) | |
| 16 | g.3254628G>C | CA394481492 | MEFV | c.440C>G (p.Pro147Arg) c.277+1683C>G (p.=) n.629C>G n.277+1683C>G (p.=) n.440C>G (p.Pro147Arg) | |
| 16 | g.3254628G>T | CA394481494 | MEFV | c.440C>A (p.Pro147His) c.277+1683C>A (p.=) n.629C>A n.277+1683C>A (p.=) n.440C>A (p.Pro147His) | |
| 16 | g.3254629G>A | CA394481505 | MEFV | c.439C>T (p.Pro147Ser) c.277+1682C>T (p.=) n.628C>T n.277+1682C>T (p.=) n.439C>T (p.Pro147Ser) | gnomAD |
| 16 | g.3254629G>C | CA10577524 | MEFV | c.439C>G (p.Pro147Ala) c.277+1682C>G (p.=) n.628C>G n.277+1682C>G (p.=) n.439C>G (p.Pro147Ala) | ClinVar dbSNP gnomAD |
| 16 | g.3254629G>T | CA394481497 | MEFV | c.439C>A (p.Pro147Thr) c.277+1682C>A (p.=) n.628C>A n.277+1682C>A (p.=) n.439C>A (p.Pro147Thr) | |
| 16 | g.3254630C>A | CA394481508 | MEFV | c.438G>T (p.Gln146His) c.277+1681G>T (p.=) n.627G>T n.277+1681G>T (p.=) n.438G>T (p.Gln146His) | |
| 16 | g.3254630C>G | CA394481509 | MEFV | c.438G>C (p.Gln146His) c.277+1681G>C (p.=) n.627G>C n.277+1681G>C (p.=) n.438G>C (p.Gln146His) | |
| 16 | g.3254630C>T | CA7860426 | MEFV | c.438G>A (p.Gln146=) c.277+1681G>A (p.=) n.627G>A n.277+1681G>A (p.=) n.438G>A (p.Gln146=) | dbSNP ExAC gnomAD |
| 16 | g.3254631T>A | CA394481511 | MEFV | c.437A>T (p.Gln146Leu) c.277+1680A>T (p.=) n.626A>T n.277+1680A>T (p.=) n.437A>T (p.Gln146Leu) | |
| 16 | g.3254631T>C | CA394481514 | MEFV | c.437A>G (p.Gln146Arg) c.277+1680A>G (p.=) n.626A>G n.277+1680A>G (p.=) n.437A>G (p.Gln146Arg) | |
| 16 | g.3254631T>G | CA394481516 | MEFV | c.437A>C (p.Gln146Pro) c.277+1680A>C (p.=) n.626A>C n.277+1680A>C (p.=) n.437A>C (p.Gln146Pro) | |
| 16 | g.3254632G>A | CA10577525 | MEFV | c.436C>T (p.Gln146Ter) c.277+1679C>T (p.=) n.625C>T n.277+1679C>T (p.=) n.436C>T (p.Gln146Ter) | ClinVar dbSNP |
| 16 | g.3254632G>C | CA394481521 | MEFV | c.436C>G (p.Gln146Glu) c.277+1679C>G (p.=) n.625C>G n.277+1679C>G (p.=) n.436C>G (p.Gln146Glu) | |
| 16 | g.3254632G>T | CA394481523 | MEFV | c.436C>A (p.Gln146Lys) c.277+1679C>A (p.=) n.625C>A n.277+1679C>A (p.=) n.436C>A (p.Gln146Lys) | |
| 16 | g.3254633G>A | CA493384335 | MEFV | c.435C>T (p.Ser145=) c.277+1678C>T (p.=) n.624C>T n.277+1678C>T (p.=) n.435C>T (p.Ser145=) | |
| 16 | g.3254633G>C | CA394481532 | MEFV | c.435C>G (p.Ser145Arg) c.277+1678C>G (p.=) n.624C>G n.277+1678C>G (p.=) n.435C>G (p.Ser145Arg) | |
| 16 | g.3254633G>T | CA394481538 | MEFV | c.435C>A (p.Ser145Arg) c.277+1678C>A (p.=) n.624C>A n.277+1678C>A (p.=) n.435C>A (p.Ser145Arg) | gnomAD |
| 16 | g.3254634C>A | CA394481542 | MEFV | c.434G>T (p.Ser145Ile) c.277+1677G>T (p.=) n.623G>T n.277+1677G>T (p.=) n.434G>T (p.Ser145Ile) | |
| 16 | g.3254634C>G | CA394481545 | MEFV | c.434G>C (p.Ser145Thr) c.277+1677G>C (p.=) n.623G>C n.277+1677G>C (p.=) n.434G>C (p.Ser145Thr) | gnomAD |
| 16 | g.3254634C>T | CA394481546 | MEFV | c.434G>A (p.Ser145Asn) c.277+1677G>A (p.=) n.623G>A n.277+1677G>A (p.=) n.434G>A (p.Ser145Asn) | gnomAD |
| 16 | g.3254635T>A | CA394481553 | MEFV | c.433A>T (p.Ser145Cys) c.277+1676A>T (p.=) n.622A>T n.277+1676A>T (p.=) n.433A>T (p.Ser145Cys) | |
| 16 | g.3254635T>C | CA394481558 | MEFV | c.433A>G (p.Ser145Gly) c.277+1676A>G (p.=) n.622A>G n.277+1676A>G (p.=) n.433A>G (p.Ser145Gly) | |
| 16 | g.3254635T>G | CA394481550 | MEFV | c.433A>C (p.Ser145Arg) c.277+1676A>C (p.=) n.622A>C n.277+1676A>C (p.=) n.433A>C (p.Ser145Arg) | |
| 16 | g.3254636G>A | CA493384340 | MEFV | c.432C>T (p.Cys144=) c.277+1675C>T (p.=) n.621C>T n.277+1675C>T (p.=) n.432C>T (p.Cys144=) | gnomAD |
| 16 | g.3254636G>C | CA394481561 | MEFV | c.432C>G (p.Cys144Trp) c.277+1675C>G (p.=) n.621C>G n.277+1675C>G (p.=) n.432C>G (p.Cys144Trp) | gnomAD |
| 16 | g.3254636G>T | CA394481564 | MEFV | c.432C>A (p.Cys144Ter) c.277+1675C>A (p.=) n.621C>A n.277+1675C>A (p.=) n.432C>A (p.Cys144Ter) | |
| 16 | g.3254637C>A | CA394481579 | MEFV | c.431G>T (p.Cys144Phe) c.277+1674G>T (p.=) n.620G>T n.277+1674G>T (p.=) n.431G>T (p.Cys144Phe) | |
| 16 | g.3254637C>G | CA394481580 | MEFV | c.431G>C (p.Cys144Ser) c.277+1674G>C (p.=) n.620G>C n.277+1674G>C (p.=) n.431G>C (p.Cys144Ser) | |
| 16 | g.3254637C>T | CA7860427 | MEFV | c.431G>A (p.Cys144Tyr) c.277+1674G>A (p.=) n.620G>A n.277+1674G>A (p.=) n.431G>A (p.Cys144Tyr) | dbSNP ExAC gnomAD |
| 16 | g.3254638A>C | CA394481585 | MEFV | c.430T>G (p.Cys144Gly) c.277+1673T>G (p.=) n.619T>G n.277+1673T>G (p.=) n.430T>G (p.Cys144Gly) | |
| 16 | g.3254638A>G | CA394481591 | MEFV | c.430T>C (p.Cys144Arg) c.277+1673T>C (p.=) n.619T>C n.277+1673T>C (p.=) n.430T>C (p.Cys144Arg) | |
| 16 | g.3254638A>T | CA394481599 | MEFV | c.430T>A (p.Cys144Ser) c.277+1673T>A (p.=) n.619T>A n.277+1673T>A (p.=) n.430T>A (p.Cys144Ser) | |
| 16 | g.3254639C>A | CA493384345 | MEFV | c.429G>T (p.Arg143=) c.277+1672G>T (p.=) n.618G>T n.277+1672G>T (p.=) n.429G>T (p.Arg143=) | |
| 16 | g.3254639C>G | CA493384347 | MEFV | c.429G>C (p.Arg143=) c.277+1672G>C (p.=) n.618G>C n.277+1672G>C (p.=) n.429G>C (p.Arg143=) | |
| 16 | g.3254639C>T | CA493384346 | MEFV | c.429G>A (p.Arg143=) c.277+1672G>A (p.=) n.618G>A n.277+1672G>A (p.=) n.429G>A (p.Arg143=) | gnomAD |
| 16 | g.3254640C>A | CA394481601 | MEFV | c.428G>T (p.Arg143Leu) c.277+1671G>T (p.=) n.617G>T n.277+1671G>T (p.=) n.428G>T (p.Arg143Leu) | |
| 16 | g.3254640C>G | CA280604 | MEFV | c.428G>C (p.Arg143Pro) c.277+1671G>C (p.=) n.617G>C n.277+1671G>C (p.=) n.428G>C (p.Arg143Pro) | ClinVar dbSNP |
| 16 | g.3254640C>T | CA7860428 | MEFV | c.428G>A (p.Arg143Gln) c.277+1671G>A (p.=) n.617G>A n.277+1671G>A (p.=) n.428G>A (p.Arg143Gln) | dbSNP ExAC gnomAD |
| 16 | g.3254641G>A | CA394481611 | MEFV | c.427C>T (p.Arg143Trp) c.277+1670C>T (p.=) n.616C>T n.277+1670C>T (p.=) n.427C>T (p.Arg143Trp) | |
| 16 | g.3254641G>C | CA394481610 | MEFV | c.427C>G (p.Arg143Gly) c.277+1670C>G (p.=) n.616C>G n.277+1670C>G (p.=) n.427C>G (p.Arg143Gly) | |
| 16 | g.3254641G>T | CA7860429 | MEFV | c.427C>A (p.Arg143=) c.277+1670C>A (p.=) n.616C>A n.277+1670C>A (p.=) n.427C>A (p.Arg143=) | dbSNP ExAC gnomAD |
| 16 | g.3254642C>A | CA493384356 | MEFV | c.426G>T (p.Leu142=) c.277+1669G>T (p.=) n.615G>T n.277+1669G>T (p.=) n.426G>T (p.Leu142=) |