| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254597_3254641del | CA2631355221 | MEFV | c.428_472del (p.Arg143_Pro157del) c.277+1671_277+1715del (n.277+1671_277+1715del) n.617_661del | gnomAD v4 |
| 16 | g.3254626C>A | CA394481484 | MEFV | c.442G>T (p.Glu148Ter) c.277+1685G>T (n.277+1685G>T) n.631G>T | dbSNP |
| 16 | g.3254626C= | CA2202664915 | MEFV | c.442G= (p.Glu148=) c.277+1685G= (n.277+1685G=) n.631G= | |
| 16 | g.3254626C>G | CA280097 | MEFV | c.442G>C (p.Glu148Gln) c.277+1685G>C (n.277+1685G>C) n.631G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.[3254626C>G;3254739A>G] | CA2580573364 | MEFV | c.[329T>C;442G>C] (p.[Leu110Pro;Glu148Gln]) c.[277+1572T>C;277+1685G>C] (n.[277+1572T>C;277+1685G>C]) n.[518T>C;631G>C] | |
| 16 | g.3254626C>T | CA394481486 | MEFV | c.442G>A (p.Glu148Lys) c.277+1685G>A (n.277+1685G>A) n.631G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254626_3254627del | CA2956803290 | MEFV | c.441_442del (p.Glu148GlyfsTer?) c.277+1684_277+1685del (n.277+1684_277+1685del) n.630_631del | |
| 16 | g.3254627_3254642dup | CA10577523 | MEFV | c.427_442dup (p.Glu148AlafsTer?) c.277+1670_277+1685dup (n.277+1670_277+1685dup) n.616_631dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254626_3254670del | CA2631355299 | MEFV | c.398_442del (p.Arg133_Glu148delinsGln) c.277+1641_277+1685del (n.277+1641_277+1685del) n.587_631del | gnomAD v4 |
| 16 | g.3254627G>A | CA493384327 | MEFV | c.441C>T (p.Pro147=) c.277+1684C>T (n.277+1684C>T) n.630C>T | dbSNP gnomAD v4 COSMIC |
| 16 | g.3254627G>C | CA493384328 | MEFV | c.441C>G (p.Pro147=) c.277+1684C>G (n.277+1684C>G) n.630C>G | gnomAD v4 |
| 16 | g.3254627G= | CA2202664916 | MEFV | c.441C= (p.Pro147=) c.277+1684C= (n.277+1684C=) n.630C= | |
| 16 | g.3254627G>T | CA493384329 | MEFV | c.441C>A (p.Pro147=) c.277+1684C>A (n.277+1684C>A) n.630C>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3254629dup | CA2695222721 | MEFV | c.441dup (p.Glu148ArgfsTer?) c.277+1684dup (n.277+1684dup) n.630dup | |
| 16 | g.3254628G>A | CA394481489 | MEFV | c.440C>T (p.Pro147Leu) c.277+1683C>T (n.277+1683C>T) n.629C>T | |
| 16 | g.3254628G>C | CA394481492 | MEFV | c.440C>G (p.Pro147Arg) c.277+1683C>G (n.277+1683C>G) n.629C>G | gnomAD v4 |
| 16 | g.3254628G>T | CA394481494 | MEFV | c.440C>A (p.Pro147His) c.277+1683C>A (n.277+1683C>A) n.629C>A | |
| 16 | g.3254635_3254650del | CA2575889886 | MEFV | c.425_440del (p.Leu142ProfsTer12) c.277+1668_277+1683del (n.277+1668_277+1683del) n.614_629del | |
| 16 | g.3254629G>A | CA394481505 | MEFV | c.439C>T (p.Pro147Ser) c.277+1682C>T (n.277+1682C>T) n.628C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254629G>C | CA10577524 | MEFV | c.439C>G (p.Pro147Ala) c.277+1682C>G (n.277+1682C>G) n.628C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254629G= | CA2202664917 | MEFV | c.439C= (p.Pro147=) c.277+1682C= (n.277+1682C=) n.628C= | |
| 16 | g.3254629G>T | CA394481497 | MEFV | c.439C>A (p.Pro147Thr) c.277+1682C>A (n.277+1682C>A) n.628C>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3254630C>A | CA394481508 | MEFV | c.438G>T (p.Gln146His) c.277+1681G>T (n.277+1681G>T) n.627G>T | gnomAD v4 |
| 16 | g.3254630C= | CA2202664918 | MEFV | c.438G= (p.Gln146=) c.277+1681G= (n.277+1681G=) n.627G= | |
| 16 | g.3254630C>G | CA394481509 | MEFV | c.438G>C (p.Gln146His) c.277+1681G>C (n.277+1681G>C) n.627G>C | |
| 16 | g.3254630C>T | CA7860426 | MEFV | c.438G>A (p.Gln146=) c.277+1681G>A (n.277+1681G>A) n.627G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3254631T>A | CA394481511 | MEFV | c.437A>T (p.Gln146Leu) c.277+1680A>T (n.277+1680A>T) n.626A>T | |
| 16 | g.3254631T>C | CA394481514 | MEFV | c.437A>G (p.Gln146Arg) c.277+1680A>G (n.277+1680A>G) n.626A>G | |
| 16 | g.3254631T>G | CA394481516 | MEFV | c.437A>C (p.Gln146Pro) c.277+1680A>C (n.277+1680A>C) n.626A>C | |
| 16 | g.3254632G>A | CA10577525 | MEFV | c.436C>T (p.Gln146Ter) c.277+1679C>T (n.277+1679C>T) n.625C>T | ClinVar dbSNP |
| 16 | g.3254632G>C | CA394481521 | MEFV | c.436C>G (p.Gln146Glu) c.277+1679C>G (n.277+1679C>G) n.625C>G | dbSNP |
| 16 | g.3254632G= | CA2202664919 | MEFV | c.436C= (p.Gln146=) c.277+1679C= (n.277+1679C=) n.625C= | |
| 16 | g.3254632G>T | CA394481523 | MEFV | c.436C>A (p.Gln146Lys) c.277+1679C>A (n.277+1679C>A) n.625C>A | gnomAD v4 |
| 16 | g.3254633del | CA2956803305 | MEFV | c.436del (p.Gln146SerfsTer13) c.277+1679del (n.277+1679del) n.625del | |
| 16 | g.3254633G>A | CA493384335 | MEFV | c.435C>T (p.Ser145=) c.277+1678C>T (n.277+1678C>T) n.624C>T | dbSNP gnomAD v4 |
| 16 | g.3254633G>C | CA394481532 | MEFV | c.435C>G (p.Ser145Arg) c.277+1678C>G (n.277+1678C>G) n.624C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3254633G= | CA2202664920 | MEFV | c.435C= (p.Ser145=) c.277+1678C= (n.277+1678C=) n.624C= | |
| 16 | g.3254633G>T | CA394481538 | MEFV | c.435C>A (p.Ser145Arg) c.277+1678C>A (n.277+1678C>A) n.624C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254636_3254654dup | CA2956803310 | MEFV | c.417_435dup (p.Gln146CysfsTer?) c.277+1660_277+1678dup (n.277+1660_277+1678dup) n.606_624dup | |
| 16 | g.3254634C>A | CA394481542 | MEFV | c.434G>T (p.Ser145Ile) c.277+1677G>T (n.277+1677G>T) n.623G>T | gnomAD v4 |
| 16 | g.3254634C= | CA2202664921 | MEFV | c.434G= (p.Ser145=) c.277+1677G= (n.277+1677G=) n.623G= | |
| 16 | g.3254634C>G | CA394481545 | MEFV | c.434G>C (p.Ser145Thr) c.277+1677G>C (n.277+1677G>C) n.623G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254634C>T | CA394481546 | MEFV | c.434G>A (p.Ser145Asn) c.277+1677G>A (n.277+1677G>A) n.623G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254635T>A | CA394481553 | MEFV | c.433A>T (p.Ser145Cys) c.277+1676A>T (n.277+1676A>T) n.622A>T | |
| 16 | g.3254635T>C | CA394481558 | MEFV | c.433A>G (p.Ser145Gly) c.277+1676A>G (n.277+1676A>G) n.622A>G | |
| 16 | g.3254635T>G | CA394481550 | MEFV | c.433A>C (p.Ser145Arg) c.277+1676A>C (n.277+1676A>C) n.622A>C | ClinVar dbSNP |
| 16 | g.3254636G>A | CA493384340 | MEFV | c.432C>T (p.Cys144=) c.277+1675C>T (n.277+1675C>T) n.621C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254636G>C | CA394481561 | MEFV | c.432C>G (p.Cys144Trp) c.277+1675C>G (n.277+1675C>G) n.621C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254636G= | CA2202664922 | MEFV | c.432C= (p.Cys144=) c.277+1675C= (n.277+1675C=) n.621C= | |
| 16 | g.3254636G>T | CA394481564 | MEFV | c.432C>A (p.Cys144Ter) c.277+1675C>A (n.277+1675C>A) n.621C>A | gnomAD v4 |