Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18075805_18075808delinsAGCTCA2326172891IL12RB1c.641_644delinsAGCT (p.Gln214=)
c.761_764delinsAGCT (p.Gln254=)
c.773_776delinsAGCT (p.Gln258=)
c.653_656delinsAGCT (p.Gln218=)
c.38_41delinsAGCT (p.Gln13=)
19g.18075805_18075821dupCA2695228486IL12RB1c.628_644dup (p.Gly216SerfsTer32)
c.748_764dup (p.Gly256SerfsTer32)
c.760_776dup (p.Gly260SerfsTer29)
c.748_764dup (p.Gly256SerfsTer29)
c.760_776dup (p.Gly260SerfsTer32)
c.640_656dup (p.Gly220SerfsTer29)
c.628_644dup (p.Gly216SerfsTer29)
c.25_41dup (p.Gly15SerfsTer29)
19g.18075808_18075810delCA9305127IL12RB1c.641_643del (p.Gln214del)
c.761_763del (p.Gln254del)
c.773_775del (p.Gln258del)
c.653_655del (p.Gln218del)
c.38_40del (p.Gln13del)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.18075808T>ACA404781565IL12RB1c.641A>T (p.Gln214Leu)
c.761A>T (p.Gln254Leu)
c.773A>T (p.Gln258Leu)
c.653A>T (p.Gln218Leu)
c.38A>T (p.Gln13Leu)
19g.18075808T>CCA9305128IL12RB1c.641A>G (p.Gln214Arg)
c.761A>G (p.Gln254Arg)
c.773A>G (p.Gln258Arg)
c.653A>G (p.Gln218Arg)
c.38A>G (p.Gln13Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18075808T>GCA404781566IL12RB1c.641A>C (p.Gln214Pro)
c.761A>C (p.Gln254Pro)
c.773A>C (p.Gln258Pro)
c.653A>C (p.Gln218Pro)
c.38A>C (p.Gln13Pro)
19g.18075808T=CA2326172904IL12RB1c.641A= (p.Gln214=)
c.761A= (p.Gln254=)
c.773A= (p.Gln258=)
c.653A= (p.Gln218=)
c.38A= (p.Gln13=)
19g.18075808_18075811delinsTGCCCA2326172901IL12RB1c.638_641delinsGGCA (p.Arg213=)
c.758_761delinsGGCA (p.Arg253=)
c.770_773delinsGGCA (p.Arg257=)
c.650_653delinsGGCA (p.Arg217=)
c.35_38delinsGGCA (p.Arg12=)
19g.18075809G>ACA306164088IL12RB1c.640C>T (p.Gln214Ter)
c.760C>T (p.Gln254Ter)
c.772C>T (p.Gln258Ter)
c.652C>T (p.Gln218Ter)
c.37C>T (p.Gln13Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18075809G>CCA404781568IL12RB1c.640C>G (p.Gln214Glu)
c.760C>G (p.Gln254Glu)
c.772C>G (p.Gln258Glu)
c.652C>G (p.Gln218Glu)
c.37C>G (p.Gln13Glu)
19g.18075809G=CA2326172909IL12RB1c.640C= (p.Gln214=)
c.760C= (p.Gln254=)
c.772C= (p.Gln258=)
c.652C= (p.Gln218=)
c.37C= (p.Gln13=)
19g.18075809G>TCA404781570IL12RB1c.640C>A (p.Gln214Lys)
c.760C>A (p.Gln254Lys)
c.772C>A (p.Gln258Lys)
c.652C>A (p.Gln218Lys)
c.37C>A (p.Gln13Lys)
19g.18075810_18075812delCA632093974IL12RB1c.638_640del (p.Arg213del)
c.758_760del (p.Arg253del)
c.770_772del (p.Arg257del)
c.650_652del (p.Arg217del)
c.35_37del (p.Arg12del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18075810C>ACA506032469IL12RB1c.639G>T (p.Arg213=)
c.759G>T (p.Arg253=)
c.771G>T (p.Arg257=)
c.651G>T (p.Arg217=)
c.36G>T (p.Arg12=)
19g.18075810C=CA2326172914IL12RB1c.639G= (p.Arg213=)
c.759G= (p.Arg253=)
c.771G= (p.Arg257=)
c.651G= (p.Arg217=)
c.36G= (p.Arg12=)
19g.18075810C>GCA506032470IL12RB1c.639G>C (p.Arg213=)
c.759G>C (p.Arg253=)
c.771G>C (p.Arg257=)
c.651G>C (p.Arg217=)
c.36G>C (p.Arg12=)
19g.18075810C>TCA9305129IL12RB1c.639G>A (p.Arg213=)
c.759G>A (p.Arg253=)
c.771G>A (p.Arg257=)
c.651G>A (p.Arg217=)
c.36G>A (p.Arg12=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18075811delCA2576772551IL12RB1c.639del (p.Gln214SerfsTer28)
c.759del (p.Gln254SerfsTer28)
c.771del (p.Gln258SerfsTer25)
c.759del (p.Gln254SerfsTer25)
c.771del (p.Gln258SerfsTer28)
c.651del (p.Gln218SerfsTer25)
c.639del (p.Gln214SerfsTer25)
c.36del (p.Gln13SerfsTer25)
19g.18075811C>ACA404781580IL12RB1c.638G>T (p.Arg213Leu)
c.758G>T (p.Arg253Leu)
c.770G>T (p.Arg257Leu)
c.650G>T (p.Arg217Leu)
c.35G>T (p.Arg12Leu)
19g.18075811C=CA2326172917IL12RB1c.638G= (p.Arg213=)
c.758G= (p.Arg253=)
c.770G= (p.Arg257=)
c.650G= (p.Arg217=)
c.35G= (p.Arg12=)
19g.18075811C>GCA404781582IL12RB1c.638G>C (p.Arg213Pro)
c.758G>C (p.Arg253Pro)
c.770G>C (p.Arg257Pro)
c.650G>C (p.Arg217Pro)
c.35G>C (p.Arg12Pro)
19g.18075811C>TCA9305130IL12RB1c.638G>A (p.Arg213Gln)
c.758G>A (p.Arg253Gln)
c.770G>A (p.Arg257Gln)
c.650G>A (p.Arg217Gln)
c.35G>A (p.Arg12Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18075812G>ACA119245IL12RB1c.637C>T (p.Arg213Trp)
c.757C>T (p.Arg253Trp)
c.769C>T (p.Arg257Trp)
c.649C>T (p.Arg217Trp)
c.34C>T (p.Arg12Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.18075812G>CCA404781593IL12RB1c.637C>G (p.Arg213Gly)
c.757C>G (p.Arg253Gly)
c.769C>G (p.Arg257Gly)
c.649C>G (p.Arg217Gly)
c.34C>G (p.Arg12Gly)
19g.18075812G=CA2326172922IL12RB1c.637C= (p.Arg213=)
c.757C= (p.Arg253=)
c.769C= (p.Arg257=)
c.649C= (p.Arg217=)
c.34C= (p.Arg12=)
19g.18075812G>TCA506032481IL12RB1c.637C>A (p.Arg213=)
c.757C>A (p.Arg253=)
c.769C>A (p.Arg257=)
c.649C>A (p.Arg217=)
c.34C>A (p.Arg12=)
19g.18075813T>ACA506032484IL12RB1c.636A>T (p.Arg212=)
c.756A>T (p.Arg252=)
c.768A>T (p.Arg256=)
c.648A>T (p.Arg216=)
c.33A>T (p.Arg11=)
19g.18075813T>CCA506032486IL12RB1c.636A>G (p.Arg212=)
c.756A>G (p.Arg252=)
c.768A>G (p.Arg256=)
c.648A>G (p.Arg216=)
c.33A>G (p.Arg11=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
19g.18075813T>GCA506032488IL12RB1c.636A>C (p.Arg212=)
c.756A>C (p.Arg252=)
c.768A>C (p.Arg256=)
c.648A>C (p.Arg216=)
c.33A>C (p.Arg11=)
19g.18075813T=CA2326172926IL12RB1c.636A= (p.Arg212=)
c.756A= (p.Arg252=)
c.768A= (p.Arg256=)
c.648A= (p.Arg216=)
c.33A= (p.Arg11=)
19g.18075814C>ACA404781596IL12RB1c.635G>T (p.Arg212Leu)
c.755G>T (p.Arg252Leu)
c.767G>T (p.Arg256Leu)
c.647G>T (p.Arg216Leu)
c.32G>T (p.Arg11Leu)
dbSNP gnomAD v2 gnomAD v4
19g.18075814C=CA2326172929IL12RB1c.635G= (p.Arg212=)
c.755G= (p.Arg252=)
c.767G= (p.Arg256=)
c.647G= (p.Arg216=)
c.32G= (p.Arg11=)
19g.18075814C>GCA404781599IL12RB1c.635G>C (p.Arg212Pro)
c.755G>C (p.Arg252Pro)
c.767G>C (p.Arg256Pro)
c.647G>C (p.Arg216Pro)
c.32G>C (p.Arg11Pro)
19g.18075814C>TCA9305131IL12RB1c.635G>A (p.Arg212Gln)
c.755G>A (p.Arg252Gln)
c.767G>A (p.Arg256Gln)
c.647G>A (p.Arg216Gln)
c.32G>A (p.Arg11Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
19g.18075815G>ACA9305132IL12RB1c.634C>T (p.Arg212Ter)
c.754C>T (p.Arg252Ter)
c.766C>T (p.Arg256Ter)
c.646C>T (p.Arg216Ter)
c.31C>T (p.Arg11Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.18075815G>CCA404781604IL12RB1c.634C>G (p.Arg212Gly)
c.754C>G (p.Arg252Gly)
c.766C>G (p.Arg256Gly)
c.646C>G (p.Arg216Gly)
c.31C>G (p.Arg11Gly)
19g.18075815G=CA2326172935IL12RB1c.634C= (p.Arg212=)
c.754C= (p.Arg252=)
c.766C= (p.Arg256=)
c.646C= (p.Arg216=)
c.31C= (p.Arg11=)
19g.18075815G>TCA506032502IL12RB1c.634C>A (p.Arg212=)
c.754C>A (p.Arg252=)
c.766C>A (p.Arg256=)
c.646C>A (p.Arg216=)
c.31C>A (p.Arg11=)
19g.18075815_18075816delinsGTCA2326172933IL12RB1c.633_634delinsAC (p.Arg211=)
c.753_754delinsAC (p.Arg251=)
c.765_766delinsAC (p.Arg255=)
c.645_646delinsAC (p.Arg215=)
c.30_31delinsAC (p.Arg10=)
19g.18075816delCA306164097IL12RB1c.633del (p.Arg212AspfsTer?)
c.753del (p.Arg252AspfsTer?)
c.765del (p.Arg256AspfsTer27)
c.753del (p.Arg252AspfsTer27)
c.765del (p.Arg256AspfsTer?)
c.645del (p.Arg216AspfsTer27)
c.633del (p.Arg212AspfsTer27)
c.30del (p.Arg11AspfsTer27)
dbSNP
19g.18075816T>ACA306164096IL12RB1c.633A>T (p.Arg211=)
c.753A>T (p.Arg251=)
c.765A>T (p.Arg255=)
c.645A>T (p.Arg215=)
c.30A>T (p.Arg10=)
dbSNP
19g.18075816T>CCA506032509IL12RB1c.633A>G (p.Arg211=)
c.753A>G (p.Arg251=)
c.765A>G (p.Arg255=)
c.645A>G (p.Arg215=)
c.30A>G (p.Arg10=)
19g.18075816T>GCA506032505IL12RB1c.633A>C (p.Arg211=)
c.753A>C (p.Arg251=)
c.765A>C (p.Arg255=)
c.645A>C (p.Arg215=)
c.30A>C (p.Arg10=)
19g.18075816T=CA2326172938IL12RB1c.633A= (p.Arg211=)
c.753A= (p.Arg251=)
c.765A= (p.Arg255=)
c.645A= (p.Arg215=)
c.30A= (p.Arg10=)
19g.18075817C>ACA404781606IL12RB1c.632G>T (p.Arg211Leu)
c.752G>T (p.Arg251Leu)
c.764G>T (p.Arg255Leu)
c.644G>T (p.Arg215Leu)
c.29G>T (p.Arg10Leu)
19g.18075817C=CA2326172941IL12RB1c.632G= (p.Arg211=)
c.752G= (p.Arg251=)
c.764G= (p.Arg255=)
c.644G= (p.Arg215=)
c.29G= (p.Arg10=)
19g.18075817C>GCA9305133IL12RB1c.632G>C (p.Arg211Pro)
c.752G>C (p.Arg251Pro)
c.764G>C (p.Arg255Pro)
c.644G>C (p.Arg215Pro)
c.29G>C (p.Arg10Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18075817C>TCA9305134IL12RB1c.632G>A (p.Arg211Gln)
c.752G>A (p.Arg251Gln)
c.764G>A (p.Arg255Gln)
c.644G>A (p.Arg215Gln)
c.29G>A (p.Arg10Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.18075818G>ACA9305135IL12RB1c.631C>T (p.Arg211Ter)
c.751C>T (p.Arg251Ter)
c.763C>T (p.Arg255Ter)
c.643C>T (p.Arg215Ter)
c.28C>T (p.Arg10Ter)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
19g.18075818G>CCA404781613IL12RB1c.631C>G (p.Arg211Gly)
c.751C>G (p.Arg251Gly)
c.763C>G (p.Arg255Gly)
c.643C>G (p.Arg215Gly)
c.28C>G (p.Arg10Gly)

Number of alleles fetched