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.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.3254635_3254650del | CA2575889886 | MEFV | c.425_440del (p.Leu142ProfsTer12) c.277+1668_277+1683del (n.277+1668_277+1683del) n.614_629del | |
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 |
16 | g.3254637C>A | CA394481579 | MEFV | c.431G>T (p.Cys144Phe) c.277+1674G>T (n.277+1674G>T) n.620G>T | gnomAD v4 |
16 | g.3254637C= | CA2202664923 | MEFV | c.431G= (p.Cys144=) c.277+1674G= (n.277+1674G=) n.620G= | |
16 | g.3254637C>G | CA394481580 | MEFV | c.431G>C (p.Cys144Ser) c.277+1674G>C (n.277+1674G>C) n.620G>C | |
16 | g.3254637C>T | CA7860427 | MEFV | c.431G>A (p.Cys144Tyr) c.277+1674G>A (n.277+1674G>A) n.620G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3254638A>C | CA394481585 | MEFV | c.430T>G (p.Cys144Gly) c.277+1673T>G (n.277+1673T>G) n.619T>G | |
16 | g.3254638A>G | CA394481591 | MEFV | c.430T>C (p.Cys144Arg) c.277+1673T>C (n.277+1673T>C) n.619T>C | dbSNP |
16 | g.3254638A>T | CA394481599 | MEFV | c.430T>A (p.Cys144Ser) c.277+1673T>A (n.277+1673T>A) n.619T>A | |
16 | g.3254638_3254639delinsAC | CA2202664924 | MEFV | c.429_430delinsGT (p.Arg143=) c.277+1672_277+1673delinsGT (n.277+1672_277+1673delinsGT) n.618_619delinsGT | |
16 | g.3254639C>A | CA493384345 | MEFV | c.429G>T (p.Arg143=) c.277+1672G>T (n.277+1672G>T) n.618G>T | gnomAD v4 |
16 | g.3254639C= | CA2202664925 | MEFV | c.429G= (p.Arg143=) c.277+1672G= (n.277+1672G=) n.618G= | |
16 | g.3254639C>G | CA493384347 | MEFV | c.429G>C (p.Arg143=) c.277+1672G>C (n.277+1672G>C) n.618G>C | |
16 | g.3254639C>T | CA493384346 | MEFV | c.429G>A (p.Arg143=) c.277+1672G>A (n.277+1672G>A) n.618G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3254640del | CA2202664926 | MEFV | c.429del (p.Cys144AlafsTer15) c.277+1672del (n.277+1672del) n.618del | dbSNP gnomAD v4 |
16 | g.3254640C>A | CA394481601 | MEFV | c.428G>T (p.Arg143Leu) c.277+1671G>T (n.277+1671G>T) n.617G>T | gnomAD v4 |
16 | g.3254640C= | CA2202664927 | MEFV | c.428G= (p.Arg143=) c.277+1671G= (n.277+1671G=) n.617G= | |
16 | g.3254640C>G | CA280604 | MEFV | c.428G>C (p.Arg143Pro) c.277+1671G>C (n.277+1671G>C) n.617G>C | ClinVar dbSNP gnomAD v4 |
16 | g.3254640C>T | CA7860428 | MEFV | c.428G>A (p.Arg143Gln) c.277+1671G>A (n.277+1671G>A) n.617G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3254641G>A | CA394481611 | MEFV | c.427C>T (p.Arg143Trp) c.277+1670C>T (n.277+1670C>T) n.616C>T | dbSNP gnomAD v4 |
16 | g.3254641G>C | CA394481610 | MEFV | c.427C>G (p.Arg143Gly) c.277+1670C>G (n.277+1670C>G) n.616C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3254641G= | CA2202664928 | MEFV | c.427C= (p.Arg143=) c.277+1670C= (n.277+1670C=) n.616C= | |
16 | g.3254641G>T | CA7860429 | MEFV | c.427C>A (p.Arg143=) c.277+1670C>A (n.277+1670C>A) n.616C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3254642C>A | CA493384356 | MEFV | c.426G>T (p.Leu142=) c.277+1669G>T (n.277+1669G>T) n.615G>T | |
16 | g.3254642C= | CA2202664929 | MEFV | c.426G= (p.Leu142=) c.277+1669G= (n.277+1669G=) n.615G= | |
16 | g.3254642C>G | CA493384357 | MEFV | c.426G>C (p.Leu142=) c.277+1669G>C (n.277+1669G>C) n.615G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3254642C>T | CA493384358 | MEFV | c.426G>A (p.Leu142=) c.277+1669G>A (n.277+1669G>A) n.615G>A | |
16 | g.3254642_3254644delinsCAG | CA2202664930 | MEFV | c.424_426delinsCTG (p.Leu142=) c.277+1667_277+1669delinsCTG (n.277+1667_277+1669delinsCTG) n.613_615delinsCTG | |
16 | g.3254643A= | CA2202664932 | MEFV | c.425T= (p.Leu142=) c.277+1668T= (n.277+1668T=) n.614T= | |
16 | g.3254643A>C | CA394481615 | MEFV | c.425T>G (p.Leu142Arg) c.277+1668T>G (n.277+1668T>G) n.614T>G | gnomAD v4 |
16 | g.3254643A>G | CA394481618 | MEFV | c.425T>C (p.Leu142Pro) c.277+1668T>C (n.277+1668T>C) n.614T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3254643A>T | CA394481622 | MEFV | c.425T>A (p.Leu142Gln) c.277+1668T>A (n.277+1668T>A) n.614T>A | gnomAD v4 |
16 | g.3254643_3254644del | CA2202664931 | MEFV | c.424_425del (p.Leu142AlafsTer?) c.277+1667_277+1668del (n.277+1667_277+1668del) n.613_614del | dbSNP gnomAD v4 |
16 | g.3254644G>A | CA493384360 | MEFV | c.424C>T (p.Leu142=) c.277+1667C>T (n.277+1667C>T) n.613C>T | gnomAD v4 |
16 | g.3254644G>C | CA394481625 | MEFV | c.424C>G (p.Leu142Val) c.277+1667C>G (n.277+1667C>G) n.613C>G | |
16 | g.3254644G>T | CA394481628 | MEFV | c.424C>A (p.Leu142Met) c.277+1667C>A (n.277+1667C>A) n.613C>A | |
16 | g.3254645G>A | CA493384363 | MEFV | c.423C>T (p.Ser141=) c.277+1666C>T (n.277+1666C>T) n.612C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |