Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18059894C>ACA404774703IL12RB1c.1983G>T (p.Lys661Asn)
c.1970+13G>T (n.1970+13G>T)
c.2103G>T (p.Lys701Asn)
c.2123+13G>T (n.2123+13G>T)
c.2111+13G>T (n.2111+13G>T)
c.2102+13G>T (n.2102+13G>T)
c.2090+13G>T (n.2090+13G>T)
c.2136G>T (p.Lys712Asn)
c.2003+13G>T (n.2003+13G>T)
c.1991+13G>T (n.1991+13G>T)
c.1388+13G>T (n.1388+13G>T)
 gnomAD v4
19g.18059894C>GCA404774706IL12RB1c.1983G>C (p.Lys661Asn)
c.1970+13G>C (n.1970+13G>C)
c.2103G>C (p.Lys701Asn)
c.2123+13G>C (n.2123+13G>C)
c.2111+13G>C (n.2111+13G>C)
c.2102+13G>C (n.2102+13G>C)
c.2090+13G>C (n.2090+13G>C)
c.2136G>C (p.Lys712Asn)
c.2003+13G>C (n.2003+13G>C)
c.1991+13G>C (n.1991+13G>C)
c.1388+13G>C (n.1388+13G>C)
19g.18059894C>TCA506025653IL12RB1c.1983G>A (p.Lys661=)
c.1970+13G>A (n.1970+13G>A)
c.2103G>A (p.Lys701=)
c.2123+13G>A (n.2123+13G>A)
c.2111+13G>A (n.2111+13G>A)
c.2102+13G>A (n.2102+13G>A)
c.2090+13G>A (n.2090+13G>A)
c.2136G>A (p.Lys712=)
c.2003+13G>A (n.2003+13G>A)
c.1991+13G>A (n.1991+13G>A)
c.1388+13G>A (n.1388+13G>A)
 gnomAD v4
19g.18059895T>ACA404774708IL12RB1c.1982A>T (p.Lys661Met)
c.1970+12A>T (n.1970+12A>T)
c.2102A>T (p.Lys701Met)
c.2123+12A>T (n.2123+12A>T)
c.2111+12A>T (n.2111+12A>T)
c.2102+12A>T (n.2102+12A>T)
c.2090+12A>T (n.2090+12A>T)
c.2135A>T (p.Lys712Met)
c.2003+12A>T (n.2003+12A>T)
c.1991+12A>T (n.1991+12A>T)
c.1388+12A>T (n.1388+12A>T)
 gnomAD v4
19g.18059895T>CCA404774711IL12RB1c.1982A>G (p.Lys661Arg)
c.1970+12A>G (n.1970+12A>G)
c.2102A>G (p.Lys701Arg)
c.2123+12A>G (n.2123+12A>G)
c.2111+12A>G (n.2111+12A>G)
c.2102+12A>G (n.2102+12A>G)
c.2090+12A>G (n.2090+12A>G)
c.2135A>G (p.Lys712Arg)
c.2003+12A>G (n.2003+12A>G)
c.1991+12A>G (n.1991+12A>G)
c.1388+12A>G (n.1388+12A>G)
 gnomAD v3 gnomAD v4
19g.18059895T>GCA404774714IL12RB1c.1982A>C (p.Lys661Thr)
c.1970+12A>C (n.1970+12A>C)
c.2102A>C (p.Lys701Thr)
c.2123+12A>C (n.2123+12A>C)
c.2111+12A>C (n.2111+12A>C)
c.2102+12A>C (n.2102+12A>C)
c.2090+12A>C (n.2090+12A>C)
c.2135A>C (p.Lys712Thr)
c.2003+12A>C (n.2003+12A>C)
c.1991+12A>C (n.1991+12A>C)
c.1388+12A>C (n.1388+12A>C)
 gnomAD v4
19g.18059896T>ACA404774723IL12RB1c.1981A>T (p.Lys661Ter)
c.1970+11A>T (n.1970+11A>T)
c.2101A>T (p.Lys701Ter)
c.2123+11A>T (n.2123+11A>T)
c.2111+11A>T (n.2111+11A>T)
c.2102+11A>T (n.2102+11A>T)
c.2090+11A>T (n.2090+11A>T)
c.2134A>T (p.Lys712Ter)
c.2003+11A>T (n.2003+11A>T)
c.1991+11A>T (n.1991+11A>T)
c.1388+11A>T (n.1388+11A>T)
19g.18059896T>CCA404774718IL12RB1c.1981A>G (p.Lys661Glu)
c.1970+11A>G (n.1970+11A>G)
c.2101A>G (p.Lys701Glu)
c.2123+11A>G (n.2123+11A>G)
c.2111+11A>G (n.2111+11A>G)
c.2102+11A>G (n.2102+11A>G)
c.2090+11A>G (n.2090+11A>G)
c.2134A>G (p.Lys712Glu)
c.2003+11A>G (n.2003+11A>G)
c.1991+11A>G (n.1991+11A>G)
c.1388+11A>G (n.1388+11A>G)
 gnomAD v4
19g.18059896T>GCA404774721IL12RB1c.1981A>C (p.Lys661Gln)
c.1970+11A>C (n.1970+11A>C)
c.2101A>C (p.Lys701Gln)
c.2123+11A>C (n.2123+11A>C)
c.2111+11A>C (n.2111+11A>C)
c.2102+11A>C (n.2102+11A>C)
c.2090+11A>C (n.2090+11A>C)
c.2134A>C (p.Lys712Gln)
c.2003+11A>C (n.2003+11A>C)
c.1991+11A>C (n.1991+11A>C)
c.1388+11A>C (n.1388+11A>C)
19g.18059897G>ACA506025670IL12RB1c.1980C>T (p.Ala660=)
c.1970+10C>T (n.1970+10C>T)
c.2100C>T (p.Ala700=)
c.2123+10C>T (n.2123+10C>T)
c.2111+10C>T (n.2111+10C>T)
c.2102+10C>T (n.2102+10C>T)
c.2090+10C>T (n.2090+10C>T)
c.2133C>T (p.Ala711=)
c.2003+10C>T (n.2003+10C>T)
c.1991+10C>T (n.1991+10C>T)
c.1388+10C>T (n.1388+10C>T)
 dbSNP gnomAD v4
19g.18059897G>CCA506025666IL12RB1c.1980C>G (p.Ala660=)
c.1970+10C>G (n.1970+10C>G)
c.2100C>G (p.Ala700=)
c.2123+10C>G (n.2123+10C>G)
c.2111+10C>G (n.2111+10C>G)
c.2102+10C>G (n.2102+10C>G)
c.2090+10C>G (n.2090+10C>G)
c.2133C>G (p.Ala711=)
c.2003+10C>G (n.2003+10C>G)
c.1991+10C>G (n.1991+10C>G)
c.1388+10C>G (n.1388+10C>G)
 gnomAD v4
19g.18059897G>TCA506025668IL12RB1c.1980C>A (p.Ala660=)
c.1970+10C>A (n.1970+10C>A)
c.2100C>A (p.Ala700=)
c.2123+10C>A (n.2123+10C>A)
c.2111+10C>A (n.2111+10C>A)
c.2102+10C>A (n.2102+10C>A)
c.2090+10C>A (n.2090+10C>A)
c.2133C>A (p.Ala711=)
c.2003+10C>A (n.2003+10C>A)
c.1991+10C>A (n.1991+10C>A)
c.1388+10C>A (n.1388+10C>A)
 gnomAD v4
19g.18059898delCA2583508512IL12RB1c.1980del (p.Lys661ArgfsTer5)
c.1970+10del (n.1970+10del)
c.2100del (p.Lys701ArgfsTer5)
c.2100del (p.Lys701ArgfsTer?)
c.2123+10del (n.2123+10del)
c.2111+10del (n.2111+10del)
c.2102+10del (n.2102+10del)
c.2090+10del (n.2090+10del)
c.2133del (p.Lys712ArgfsTer?)
c.2133del (p.Lys712ArgfsTer5)
c.2003+10del (n.2003+10del)
c.1991+10del (n.1991+10del)
c.1388+10del (n.1388+10del)
 gnomAD v4
19g.18059898G>ACA404774724IL12RB1c.1979C>T (p.Ala660Val)
c.1970+9C>T (n.1970+9C>T)
c.2099C>T (p.Ala700Val)
c.2123+9C>T (n.2123+9C>T)
c.2111+9C>T (n.2111+9C>T)
c.2102+9C>T (n.2102+9C>T)
c.2090+9C>T (n.2090+9C>T)
c.2132C>T (p.Ala711Val)
c.2003+9C>T (n.2003+9C>T)
c.1991+9C>T (n.1991+9C>T)
c.1388+9C>T (n.1388+9C>T)
 gnomAD v4
19g.18059898G>CCA404774733IL12RB1c.1979C>G (p.Ala660Gly)
c.1970+9C>G (n.1970+9C>G)
c.2099C>G (p.Ala700Gly)
c.2123+9C>G (n.2123+9C>G)
c.2111+9C>G (n.2111+9C>G)
c.2102+9C>G (n.2102+9C>G)
c.2090+9C>G (n.2090+9C>G)
c.2132C>G (p.Ala711Gly)
c.2003+9C>G (n.2003+9C>G)
c.1991+9C>G (n.1991+9C>G)
c.1388+9C>G (n.1388+9C>G)
19g.18059898G>TCA404774735IL12RB1c.1979C>A (p.Ala660Asp)
c.1970+9C>A (n.1970+9C>A)
c.2099C>A (p.Ala700Asp)
c.2123+9C>A (n.2123+9C>A)
c.2111+9C>A (n.2111+9C>A)
c.2102+9C>A (n.2102+9C>A)
c.2090+9C>A (n.2090+9C>A)
c.2132C>A (p.Ala711Asp)
c.2003+9C>A (n.2003+9C>A)
c.1991+9C>A (n.1991+9C>A)
c.1388+9C>A (n.1388+9C>A)
 gnomAD v4
19g.18059899C>ACA404774737IL12RB1c.1978G>T (p.Ala660Ser)
c.1970+8G>T (n.1970+8G>T)
c.2098G>T (p.Ala700Ser)
c.2123+8G>T (n.2123+8G>T)
c.2111+8G>T (n.2111+8G>T)
c.2102+8G>T (n.2102+8G>T)
c.2090+8G>T (n.2090+8G>T)
c.2131G>T (p.Ala711Ser)
c.2003+8G>T (n.2003+8G>T)
c.1991+8G>T (n.1991+8G>T)
c.1388+8G>T (n.1388+8G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18059899C=CA2326165131IL12RB1c.1978G= (p.Ala660=)
c.1970+8G= (n.1970+8G=)
c.2098G= (p.Ala700=)
c.2123+8G= (n.2123+8G=)
c.2111+8G= (n.2111+8G=)
c.2102+8G= (n.2102+8G=)
c.2090+8G= (n.2090+8G=)
c.2131G= (p.Ala711=)
c.2003+8G= (n.2003+8G=)
c.1991+8G= (n.1991+8G=)
c.1388+8G= (n.1388+8G=)
19g.18059899C>GCA404774739IL12RB1c.1978G>C (p.Ala660Pro)
c.1970+8G>C (n.1970+8G>C)
c.2098G>C (p.Ala700Pro)
c.2123+8G>C (n.2123+8G>C)
c.2111+8G>C (n.2111+8G>C)
c.2102+8G>C (n.2102+8G>C)
c.2090+8G>C (n.2090+8G>C)
c.2131G>C (p.Ala711Pro)
c.2003+8G>C (n.2003+8G>C)
c.1991+8G>C (n.1991+8G>C)
c.1388+8G>C (n.1388+8G>C)
19g.18059899C>TCA404774740IL12RB1c.1978G>A (p.Ala660Thr)
c.1970+8G>A (n.1970+8G>A)
c.2098G>A (p.Ala700Thr)
c.2123+8G>A (n.2123+8G>A)
c.2111+8G>A (n.2111+8G>A)
c.2102+8G>A (n.2102+8G>A)
c.2090+8G>A (n.2090+8G>A)
c.2131G>A (p.Ala711Thr)
c.2003+8G>A (n.2003+8G>A)
c.1991+8G>A (n.1991+8G>A)
c.1388+8G>A (n.1388+8G>A)
 gnomAD v4
19g.18059900delCA2583508527IL12RB1c.1978del (p.Ala660ProfsTer6)
c.1970+8del (n.1970+8del)
c.2098del (p.Ala700ProfsTer6)
c.2098del (p.Ala700ProfsTer?)
c.2123+8del (n.2123+8del)
c.2111+8del (n.2111+8del)
c.2102+8del (n.2102+8del)
c.2090+8del (n.2090+8del)
c.2131del (p.Ala711ProfsTer?)
c.2131del (p.Ala711ProfsTer6)
c.2003+8del (n.2003+8del)
c.1991+8del (n.1991+8del)
c.1388+8del (n.1388+8del)
 gnomAD v4
19g.18059900C>ACA404774744IL12RB1c.1977G>T (p.Lys659Asn)
c.1970+7G>T (n.1970+7G>T)
c.2097G>T (p.Lys699Asn)
c.2123+7G>T (n.2123+7G>T)
c.2111+7G>T (n.2111+7G>T)
c.2102+7G>T (n.2102+7G>T)
c.2090+7G>T (n.2090+7G>T)
c.2130G>T (p.Lys710Asn)
c.2003+7G>T (n.2003+7G>T)
c.1991+7G>T (n.1991+7G>T)
c.1388+7G>T (n.1388+7G>T)
 gnomAD v4
19g.18059900C=CA2326165132IL12RB1c.1977G= (p.Lys659=)
c.1970+7G= (n.1970+7G=)
c.2097G= (p.Lys699=)
c.2123+7G= (n.2123+7G=)
c.2111+7G= (n.2111+7G=)
c.2102+7G= (n.2102+7G=)
c.2090+7G= (n.2090+7G=)
c.2130G= (p.Lys710=)
c.2003+7G= (n.2003+7G=)
c.1991+7G= (n.1991+7G=)
c.1388+7G= (n.1388+7G=)
19g.18059900C>GCA404774747IL12RB1c.1977G>C (p.Lys659Asn)
c.1970+7G>C (n.1970+7G>C)
c.2097G>C (p.Lys699Asn)
c.2123+7G>C (n.2123+7G>C)
c.2111+7G>C (n.2111+7G>C)
c.2102+7G>C (n.2102+7G>C)
c.2090+7G>C (n.2090+7G>C)
c.2130G>C (p.Lys710Asn)
c.2003+7G>C (n.2003+7G>C)
c.1991+7G>C (n.1991+7G>C)
c.1388+7G>C (n.1388+7G>C)
 dbSNP gnomAD v4
19g.18059900C>TCA506025688IL12RB1c.1977G>A (p.Lys659=)
c.1970+7G>A (n.1970+7G>A)
c.2097G>A (p.Lys699=)
c.2123+7G>A (n.2123+7G>A)
c.2111+7G>A (n.2111+7G>A)
c.2102+7G>A (n.2102+7G>A)
c.2090+7G>A (n.2090+7G>A)
c.2130G>A (p.Lys710=)
c.2003+7G>A (n.2003+7G>A)
c.1991+7G>A (n.1991+7G>A)
c.1388+7G>A (n.1388+7G>A)
 dbSNP gnomAD v4
19g.18059901T>ACA404774751IL12RB1c.1976A>T (p.Lys659Met)
c.1970+6A>T (n.1970+6A>T)
c.2096A>T (p.Lys699Met)
c.2123+6A>T (n.2123+6A>T)
c.2111+6A>T (n.2111+6A>T)
c.2102+6A>T (n.2102+6A>T)
c.2090+6A>T (n.2090+6A>T)
c.2129A>T (p.Lys710Met)
c.2003+6A>T (n.2003+6A>T)
c.1991+6A>T (n.1991+6A>T)
c.1388+6A>T (n.1388+6A>T)
 gnomAD v4
19g.18059901T>CCA404774754IL12RB1c.1976A>G (p.Lys659Arg)
c.1970+6A>G (n.1970+6A>G)
c.2096A>G (p.Lys699Arg)
c.2123+6A>G (n.2123+6A>G)
c.2111+6A>G (n.2111+6A>G)
c.2102+6A>G (n.2102+6A>G)
c.2090+6A>G (n.2090+6A>G)
c.2129A>G (p.Lys710Arg)
c.2003+6A>G (n.2003+6A>G)
c.1991+6A>G (n.1991+6A>G)
c.1388+6A>G (n.1388+6A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18059901T>GCA404774757IL12RB1c.1976A>C (p.Lys659Thr)
c.1970+6A>C (n.1970+6A>C)
c.2096A>C (p.Lys699Thr)
c.2123+6A>C (n.2123+6A>C)
c.2111+6A>C (n.2111+6A>C)
c.2102+6A>C (n.2102+6A>C)
c.2090+6A>C (n.2090+6A>C)
c.2129A>C (p.Lys710Thr)
c.2003+6A>C (n.2003+6A>C)
c.1991+6A>C (n.1991+6A>C)
c.1388+6A>C (n.1388+6A>C)
 gnomAD v4
19g.18059901T=CA2326165133IL12RB1c.1976A= (p.Lys659=)
c.1970+6A= (n.1970+6A=)
c.2096A= (p.Lys699=)
c.2123+6A= (n.2123+6A=)
c.2111+6A= (n.2111+6A=)
c.2102+6A= (n.2102+6A=)
c.2090+6A= (n.2090+6A=)
c.2129A= (p.Lys710=)
c.2003+6A= (n.2003+6A=)
c.1991+6A= (n.1991+6A=)
c.1388+6A= (n.1388+6A=)
19g.18059902T>ACA404774766IL12RB1c.1975A>T (p.Lys659Ter)
c.1970+5A>T (n.1970+5A>T)
c.2095A>T (p.Lys699Ter)
c.2123+5A>T (n.2123+5A>T)
c.2111+5A>T (n.2111+5A>T)
c.2102+5A>T (n.2102+5A>T)
c.2090+5A>T (n.2090+5A>T)
c.2128A>T (p.Lys710Ter)
c.2003+5A>T (n.2003+5A>T)
c.1991+5A>T (n.1991+5A>T)
c.1388+5A>T (n.1388+5A>T)
19g.18059902T>CCA404774763IL12RB1c.1975A>G (p.Lys659Glu)
c.1970+5A>G (n.1970+5A>G)
c.2095A>G (p.Lys699Glu)
c.2123+5A>G (n.2123+5A>G)
c.2111+5A>G (n.2111+5A>G)
c.2102+5A>G (n.2102+5A>G)
c.2090+5A>G (n.2090+5A>G)
c.2128A>G (p.Lys710Glu)
c.2003+5A>G (n.2003+5A>G)
c.1991+5A>G (n.1991+5A>G)
c.1388+5A>G (n.1388+5A>G)
 gnomAD v4
19g.18059902T>GCA404774761IL12RB1c.1975A>C (p.Lys659Gln)
c.1970+5A>C (n.1970+5A>C)
c.2095A>C (p.Lys699Gln)
c.2123+5A>C (n.2123+5A>C)
c.2111+5A>C (n.2111+5A>C)
c.2102+5A>C (n.2102+5A>C)
c.2090+5A>C (n.2090+5A>C)
c.2128A>C (p.Lys710Gln)
c.2003+5A>C (n.2003+5A>C)
c.1991+5A>C (n.1991+5A>C)
c.1388+5A>C (n.1388+5A>C)
19g.18059903G>ACA506025708IL12RB1c.1974C>T (p.Cys658=)
c.1970+4C>T (n.1970+4C>T)
c.2094C>T (p.Cys698=)
c.2123+4C>T (n.2123+4C>T)
c.2111+4C>T (n.2111+4C>T)
c.2102+4C>T (n.2102+4C>T)
c.2090+4C>T (n.2090+4C>T)
c.2127C>T (p.Cys709=)
c.2003+4C>T (n.2003+4C>T)
c.1991+4C>T (n.1991+4C>T)
c.1388+4C>T (n.1388+4C>T)
 gnomAD v4
19g.18059903G>CCA404774769IL12RB1c.1974C>G (p.Cys658Trp)
c.1970+4C>G (n.1970+4C>G)
c.2094C>G (p.Cys698Trp)
c.2123+4C>G (n.2123+4C>G)
c.2111+4C>G (n.2111+4C>G)
c.2102+4C>G (n.2102+4C>G)
c.2090+4C>G (n.2090+4C>G)
c.2127C>G (p.Cys709Trp)
c.2003+4C>G (n.2003+4C>G)
c.1991+4C>G (n.1991+4C>G)
c.1388+4C>G (n.1388+4C>G)
 gnomAD v4
19g.18059903G>TCA404774773IL12RB1c.1974C>A (p.Cys658Ter)
c.1970+4C>A (n.1970+4C>A)
c.2094C>A (p.Cys698Ter)
c.2123+4C>A (n.2123+4C>A)
c.2111+4C>A (n.2111+4C>A)
c.2102+4C>A (n.2102+4C>A)
c.2090+4C>A (n.2090+4C>A)
c.2127C>A (p.Cys709Ter)
c.2003+4C>A (n.2003+4C>A)
c.1991+4C>A (n.1991+4C>A)
c.1388+4C>A (n.1388+4C>A)
 gnomAD v4
19g.18059904C>ACA404774777IL12RB1c.1973G>T (p.Cys658Phe)
c.1970+3G>T (n.1970+3G>T)
c.2093G>T (p.Cys698Phe)
c.2123+3G>T (n.2123+3G>T)
c.2111+3G>T (n.2111+3G>T)
c.2102+3G>T (n.2102+3G>T)
c.2090+3G>T (n.2090+3G>T)
c.2126G>T (p.Cys709Phe)
c.2003+3G>T (n.2003+3G>T)
c.1991+3G>T (n.1991+3G>T)
c.1388+3G>T (n.1388+3G>T)
 gnomAD v4
19g.18059904C=CA2326165134IL12RB1c.1973G= (p.Cys658=)
c.1970+3G= (n.1970+3G=)
c.2093G= (p.Cys698=)
c.2123+3G= (n.2123+3G=)
c.2111+3G= (n.2111+3G=)
c.2102+3G= (n.2102+3G=)
c.2090+3G= (n.2090+3G=)
c.2126G= (p.Cys709=)
c.2003+3G= (n.2003+3G=)
c.1991+3G= (n.1991+3G=)
c.1388+3G= (n.1388+3G=)
19g.18059904C>GCA404774786IL12RB1c.1973G>C (p.Cys658Ser)
c.1970+3G>C (n.1970+3G>C)
c.2093G>C (p.Cys698Ser)
c.2123+3G>C (n.2123+3G>C)
c.2111+3G>C (n.2111+3G>C)
c.2102+3G>C (n.2102+3G>C)
c.2090+3G>C (n.2090+3G>C)
c.2126G>C (p.Cys709Ser)
c.2003+3G>C (n.2003+3G>C)
c.1991+3G>C (n.1991+3G>C)
c.1388+3G>C (n.1388+3G>C)
19g.18059904C>TCA404774787IL12RB1c.1973G>A (p.Cys658Tyr)
c.1970+3G>A (n.1970+3G>A)
c.2093G>A (p.Cys698Tyr)
c.2123+3G>A (n.2123+3G>A)
c.2111+3G>A (n.2111+3G>A)
c.2102+3G>A (n.2102+3G>A)
c.2090+3G>A (n.2090+3G>A)
c.2126G>A (p.Cys709Tyr)
c.2003+3G>A (n.2003+3G>A)
c.1991+3G>A (n.1991+3G>A)
c.1388+3G>A (n.1388+3G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18059905A=CA2326165135IL12RB1c.1972T= (p.Cys658=)
c.1970+2T= (n.1970+2T=)
c.2092T= (p.Cys698=)
c.2123+2T= (n.2123+2T=)
c.2111+2T= (n.2111+2T=)
c.2102+2T= (n.2102+2T=)
c.2090+2T= (n.2090+2T=)
c.2125T= (p.Cys709=)
c.2003+2T= (n.2003+2T=)
c.1991+2T= (n.1991+2T=)
c.1388+2T= (n.1388+2T=)
19g.18059905A>CCA404774791IL12RB1c.1972T>G (p.Cys658Gly)
c.1970+2T>G (n.1970+2T>G)
c.2092T>G (p.Cys698Gly)
c.2123+2T>G (n.2123+2T>G)
c.2111+2T>G (n.2111+2T>G)
c.2102+2T>G (n.2102+2T>G)
c.2090+2T>G (n.2090+2T>G)
c.2125T>G (p.Cys709Gly)
c.2003+2T>G (n.2003+2T>G)
c.1991+2T>G (n.1991+2T>G)
c.1388+2T>G (n.1388+2T>G)
 gnomAD v3 gnomAD v4
19g.18059905A>GCA9304643IL12RB1c.1972T>C (p.Cys658Arg)
c.1970+2T>C (n.1970+2T>C)
c.2092T>C (p.Cys698Arg)
c.2123+2T>C (n.2123+2T>C)
c.2111+2T>C (n.2111+2T>C)
c.2102+2T>C (n.2102+2T>C)
c.2090+2T>C (n.2090+2T>C)
c.2125T>C (p.Cys709Arg)
c.2003+2T>C (n.2003+2T>C)
c.1991+2T>C (n.1991+2T>C)
c.1388+2T>C (n.1388+2T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18059905A>TCA404774794IL12RB1c.1972T>A (p.Cys658Ser)
c.1970+2T>A (n.1970+2T>A)
c.2092T>A (p.Cys698Ser)
c.2123+2T>A (n.2123+2T>A)
c.2111+2T>A (n.2111+2T>A)
c.2102+2T>A (n.2102+2T>A)
c.2090+2T>A (n.2090+2T>A)
c.2125T>A (p.Cys709Ser)
c.2003+2T>A (n.2003+2T>A)
c.1991+2T>A (n.1991+2T>A)
c.1388+2T>A (n.1388+2T>A)
 gnomAD v4
19g.18059906C>ACA404774798IL12RB1c.1971G>T (p.Arg657Ser)
c.1970+1G>T (n.1970+1G>T)
c.2091G>T (p.Arg697Ser)
c.2123+1G>T (n.2123+1G>T)
c.2111+1G>T (n.2111+1G>T)
c.2102+1G>T (n.2102+1G>T)
c.2090+1G>T (n.2090+1G>T)
c.2124G>T (p.Arg708Ser)
c.2003+1G>T (n.2003+1G>T)
c.1991+1G>T (n.1991+1G>T)
c.1388+1G>T (n.1388+1G>T)
 gnomAD v4
19g.18059906C=CA2326165136IL12RB1c.1971G= (p.Arg657=)
c.1970+1G= (n.1970+1G=)
c.2091G= (p.Arg697=)
c.2123+1G= (n.2123+1G=)
c.2111+1G= (n.2111+1G=)
c.2102+1G= (n.2102+1G=)
c.2090+1G= (n.2090+1G=)
c.2124G= (p.Arg708=)
c.2003+1G= (n.2003+1G=)
c.1991+1G= (n.1991+1G=)
c.1388+1G= (n.1388+1G=)
19g.18059906C>GCA404774799IL12RB1c.1971G>C (p.Arg657Ser)
c.1970+1G>C (n.1970+1G>C)
c.2091G>C (p.Arg697Ser)
c.2123+1G>C (n.2123+1G>C)
c.2111+1G>C (n.2111+1G>C)
c.2102+1G>C (n.2102+1G>C)
c.2090+1G>C (n.2090+1G>C)
c.2124G>C (p.Arg708Ser)
c.2003+1G>C (n.2003+1G>C)
c.1991+1G>C (n.1991+1G>C)
c.1388+1G>C (n.1388+1G>C)
19g.18059906C>TCA506025721IL12RB1c.1971G>A (p.Arg657=)
c.1970+1G>A (n.1970+1G>A)
c.2091G>A (p.Arg697=)
c.2123+1G>A (n.2123+1G>A)
c.2111+1G>A (n.2111+1G>A)
c.2102+1G>A (n.2102+1G>A)
c.2090+1G>A (n.2090+1G>A)
c.2124G>A (p.Arg708=)
c.2003+1G>A (n.2003+1G>A)
c.1991+1G>A (n.1991+1G>A)
c.1388+1G>A (n.1388+1G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18059907delCA2583508564IL12RB1c.1971del (p.Arg657SerfsTer9)
c.1970+1del
c.2091del (p.Arg697SerfsTer9)
c.2091del (p.Arg697SerfsTer?)
c.2123+1del
c.2111+1del
c.2102+1del
c.2090+1del
c.2124del (p.Arg708SerfsTer?)
c.2124del (p.Arg708SerfsTer9)
c.2003+1del
c.1991+1del
c.1388+1del
 gnomAD v4
19g.18059907C>ACA306158686IL12RB1c.1970G>T (p.Arg657Met)
c.1970G>T (p.Arg657Ile)
c.2090G>T (p.Arg697Met)
c.2123G>T (p.Arg708Ile)
c.2111G>T (p.Arg704Ile)
c.2102G>T (p.Arg701Ile)
c.2090G>T (p.Arg697Ile)
c.2123G>T (p.Arg708Met)
c.2003G>T (p.Arg668Ile)
c.1991G>T (p.Arg664Ile)
c.1388G>T (p.Arg463Ile)
 dbSNP gnomAD v4
19g.18059907C=CA2326165137IL12RB1c.1970G= (p.Arg657=)
c.2090G= (p.Arg697=)
c.2123G= (p.Arg708=)
c.2111G= (p.Arg704=)
c.2102G= (p.Arg701=)
c.2003G= (p.Arg668=)
c.1991G= (p.Arg664=)
c.1388G= (p.Arg463=)
19g.18059907C>GCA404774804IL12RB1c.1970G>C (p.Arg657Thr)
c.2090G>C (p.Arg697Thr)
c.2123G>C (p.Arg708Thr)
c.2111G>C (p.Arg704Thr)
c.2102G>C (p.Arg701Thr)
c.2003G>C (p.Arg668Thr)
c.1991G>C (p.Arg664Thr)
c.1388G>C (p.Arg463Thr)
19g.18059907C>TCA404774807IL12RB1c.1970G>A (p.Arg657Lys)
c.2090G>A (p.Arg697Lys)
c.2123G>A (p.Arg708Lys)
c.2111G>A (p.Arg704Lys)
c.2102G>A (p.Arg701Lys)
c.2003G>A (p.Arg668Lys)
c.1991G>A (p.Arg664Lys)
c.1388G>A (p.Arg463Lys)
 gnomAD v4
19g.18059907_18059908delinsCTCA2326165138IL12RB1c.1969_1970delinsAG (p.Arg657=)
c.2089_2090delinsAG (p.Arg697=)
c.2122_2123delinsAG (p.Arg708=)
c.2110_2111delinsAG (p.Arg704=)
c.2101_2102delinsAG (p.Arg701=)
c.2002_2003delinsAG (p.Arg668=)
c.1990_1991delinsAG (p.Arg664=)
c.1387_1388delinsAG (p.Arg463=)
19g.18059908delCA783892720IL12RB1c.1969del (p.Arg657GlyfsTer9)
c.1969del (p.Arg657AspfsTer10)
c.2089del (p.Arg697GlyfsTer9)
c.2089del (p.Arg697GlyfsTer?)
c.2122del (p.Arg708AspfsTer28)
c.2110del (p.Arg704AspfsTer28)
c.2101del (p.Arg701AspfsTer28)
c.2089del (p.Arg697AspfsTer28)
c.2122del (p.Arg708GlyfsTer?)
c.2122del (p.Arg708GlyfsTer9)
c.2122del (p.Arg708AspfsTer10)
c.2002del (p.Arg668AspfsTer28)
c.1990del (p.Arg664AspfsTer28)
c.2089del (p.Arg697AspfsTer10)
c.1387del (p.Arg463AspfsTer28)
 dbSNP
19g.18059908T>ACA404774808IL12RB1c.1969A>T (p.Arg657Trp)
c.1969A>T (p.Arg657Ter)
c.2089A>T (p.Arg697Trp)
c.2122A>T (p.Arg708Ter)
c.2110A>T (p.Arg704Ter)
c.2101A>T (p.Arg701Ter)
c.2089A>T (p.Arg697Ter)
c.2122A>T (p.Arg708Trp)
c.2002A>T (p.Arg668Ter)
c.1990A>T (p.Arg664Ter)
c.1387A>T (p.Arg463Ter)
 dbSNP gnomAD v4
19g.18059908T>CCA404774810IL12RB1c.1969A>G (p.Arg657Gly)
c.2089A>G (p.Arg697Gly)
c.2122A>G (p.Arg708Gly)
c.2110A>G (p.Arg704Gly)
c.2101A>G (p.Arg701Gly)
c.2002A>G (p.Arg668Gly)
c.1990A>G (p.Arg664Gly)
c.1387A>G (p.Arg463Gly)
 gnomAD v4
19g.18059908T>GCA506025732IL12RB1c.1969A>C (p.Arg657=)
c.2089A>C (p.Arg697=)
c.2122A>C (p.Arg708=)
c.2110A>C (p.Arg704=)
c.2101A>C (p.Arg701=)
c.2002A>C (p.Arg668=)
c.1990A>C (p.Arg664=)
c.1387A>C (p.Arg463=)
19g.18059909G>ACA506025738IL12RB1c.1968C>T (p.Asp656=)
c.2088C>T (p.Asp696=)
c.2121C>T (p.Asp707=)
c.2109C>T (p.Asp703=)
c.2100C>T (p.Asp700=)
c.2001C>T (p.Asp667=)
c.1989C>T (p.Asp663=)
c.1386C>T (p.Asp462=)
 gnomAD v4
19g.18059909G>CCA404774814IL12RB1c.1968C>G (p.Asp656Glu)
c.2088C>G (p.Asp696Glu)
c.2121C>G (p.Asp707Glu)
c.2109C>G (p.Asp703Glu)
c.2100C>G (p.Asp700Glu)
c.2001C>G (p.Asp667Glu)
c.1989C>G (p.Asp663Glu)
c.1386C>G (p.Asp462Glu)
19g.18059909G=CA2326165139IL12RB1c.1968C= (p.Asp656=)
c.2088C= (p.Asp696=)
c.2121C= (p.Asp707=)
c.2109C= (p.Asp703=)
c.2100C= (p.Asp700=)
c.2001C= (p.Asp667=)
c.1989C= (p.Asp663=)
c.1386C= (p.Asp462=)
19g.18059909G>TCA404774816IL12RB1c.1968C>A (p.Asp656Glu)
c.2088C>A (p.Asp696Glu)
c.2121C>A (p.Asp707Glu)
c.2109C>A (p.Asp703Glu)
c.2100C>A (p.Asp700Glu)
c.2001C>A (p.Asp667Glu)
c.1989C>A (p.Asp663Glu)
c.1386C>A (p.Asp462Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.18059910T>ACA404774819IL12RB1c.1967A>T (p.Asp656Val)
c.2087A>T (p.Asp696Val)
c.2120A>T (p.Asp707Val)
c.2108A>T (p.Asp703Val)
c.2099A>T (p.Asp700Val)
c.2000A>T (p.Asp667Val)
c.1988A>T (p.Asp663Val)
c.1385A>T (p.Asp462Val)
19g.18059910T>CCA404774822IL12RB1c.1967A>G (p.Asp656Gly)
c.2087A>G (p.Asp696Gly)
c.2120A>G (p.Asp707Gly)
c.2108A>G (p.Asp703Gly)
c.2099A>G (p.Asp700Gly)
c.2000A>G (p.Asp667Gly)
c.1988A>G (p.Asp663Gly)
c.1385A>G (p.Asp462Gly)
19g.18059910T>GCA404774824IL12RB1c.1967A>C (p.Asp656Ala)
c.2087A>C (p.Asp696Ala)
c.2120A>C (p.Asp707Ala)
c.2108A>C (p.Asp703Ala)
c.2099A>C (p.Asp700Ala)
c.2000A>C (p.Asp667Ala)
c.1988A>C (p.Asp663Ala)
c.1385A>C (p.Asp462Ala)
19g.18059911C>ACA404774827IL12RB1c.1966G>T (p.Asp656Tyr)
c.2086G>T (p.Asp696Tyr)
c.2119G>T (p.Asp707Tyr)
c.2107G>T (p.Asp703Tyr)
c.2098G>T (p.Asp700Tyr)
c.1999G>T (p.Asp667Tyr)
c.1987G>T (p.Asp663Tyr)
c.1384G>T (p.Asp462Tyr)
 gnomAD v4
19g.18059911C=CA2326165140IL12RB1c.1966G= (p.Asp656=)
c.2086G= (p.Asp696=)
c.2119G= (p.Asp707=)
c.2107G= (p.Asp703=)
c.2098G= (p.Asp700=)
c.1999G= (p.Asp667=)
c.1987G= (p.Asp663=)
c.1384G= (p.Asp462=)
19g.18059911C>GCA404774829IL12RB1c.1966G>C (p.Asp656His)
c.2086G>C (p.Asp696His)
c.2119G>C (p.Asp707His)
c.2107G>C (p.Asp703His)
c.2098G>C (p.Asp700His)
c.1999G>C (p.Asp667His)
c.1987G>C (p.Asp663His)
c.1384G>C (p.Asp462His)
 gnomAD v4
19g.18059911C>TCA404774833IL12RB1c.1966G>A (p.Asp656Asn)
c.2086G>A (p.Asp696Asn)
c.2119G>A (p.Asp707Asn)
c.2107G>A (p.Asp703Asn)
c.2098G>A (p.Asp700Asn)
c.1999G>A (p.Asp667Asn)
c.1987G>A (p.Asp663Asn)
c.1384G>A (p.Asp462Asn)
 dbSNP
19g.18059912T>ACA506025755IL12RB1c.1965A>T (p.Gly655=)
c.2085A>T (p.Gly695=)
c.2118A>T (p.Gly706=)
c.2106A>T (p.Gly702=)
c.2097A>T (p.Gly699=)
c.1998A>T (p.Gly666=)
c.1986A>T (p.Gly662=)
c.1383A>T (p.Gly461=)
 gnomAD v4
19g.18059912T>CCA506025757IL12RB1c.1965A>G (p.Gly655=)
c.2085A>G (p.Gly695=)
c.2118A>G (p.Gly706=)
c.2106A>G (p.Gly702=)
c.2097A>G (p.Gly699=)
c.1998A>G (p.Gly666=)
c.1986A>G (p.Gly662=)
c.1383A>G (p.Gly461=)
 gnomAD v4
19g.18059912T>GCA506025759IL12RB1c.1965A>C (p.Gly655=)
c.2085A>C (p.Gly695=)
c.2118A>C (p.Gly706=)
c.2106A>C (p.Gly702=)
c.2097A>C (p.Gly699=)
c.1998A>C (p.Gly666=)
c.1986A>C (p.Gly662=)
c.1383A>C (p.Gly461=)
19g.18059913C>ACA404774835IL12RB1c.1964G>T (p.Gly655Val)
c.2084G>T (p.Gly695Val)
c.2117G>T (p.Gly706Val)
c.2105G>T (p.Gly702Val)
c.2096G>T (p.Gly699Val)
c.1997G>T (p.Gly666Val)
c.1985G>T (p.Gly662Val)
c.1382G>T (p.Gly461Val)
 dbSNP
19g.18059913C=CA2326165141IL12RB1c.1964G= (p.Gly655=)
c.2084G= (p.Gly695=)
c.2117G= (p.Gly706=)
c.2105G= (p.Gly702=)
c.2096G= (p.Gly699=)
c.1997G= (p.Gly666=)
c.1985G= (p.Gly662=)
c.1382G= (p.Gly461=)
19g.18059913C>GCA9304644IL12RB1c.1964G>C (p.Gly655Ala)
c.2084G>C (p.Gly695Ala)
c.2117G>C (p.Gly706Ala)
c.2105G>C (p.Gly702Ala)
c.2096G>C (p.Gly699Ala)
c.1997G>C (p.Gly666Ala)
c.1985G>C (p.Gly662Ala)
c.1382G>C (p.Gly461Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18059913C>TCA404774840IL12RB1c.1964G>A (p.Gly655Glu)
c.2084G>A (p.Gly695Glu)
c.2117G>A (p.Gly706Glu)
c.2105G>A (p.Gly702Glu)
c.2096G>A (p.Gly699Glu)
c.1997G>A (p.Gly666Glu)
c.1985G>A (p.Gly662Glu)
c.1382G>A (p.Gly461Glu)
19g.18059914C>ACA404774843IL12RB1c.1963G>T (p.Gly655Ter)
c.2083G>T (p.Gly695Ter)
c.2116G>T (p.Gly706Ter)
c.2104G>T (p.Gly702Ter)
c.2095G>T (p.Gly699Ter)
c.1996G>T (p.Gly666Ter)
c.1984G>T (p.Gly662Ter)
c.1381G>T (p.Gly461Ter)
 gnomAD v4
19g.18059914C=CA2326165142IL12RB1c.1963G= (p.Gly655=)
c.2083G= (p.Gly695=)
c.2116G= (p.Gly706=)
c.2104G= (p.Gly702=)
c.2095G= (p.Gly699=)
c.1996G= (p.Gly666=)
c.1984G= (p.Gly662=)
c.1381G= (p.Gly461=)
19g.18059914C>GCA404774846IL12RB1c.1963G>C (p.Gly655Arg)
c.2083G>C (p.Gly695Arg)
c.2116G>C (p.Gly706Arg)
c.2104G>C (p.Gly702Arg)
c.2095G>C (p.Gly699Arg)
c.1996G>C (p.Gly666Arg)
c.1984G>C (p.Gly662Arg)
c.1381G>C (p.Gly461Arg)
19g.18059914C>TCA306158713IL12RB1c.1963G>A (p.Gly655Arg)
c.2083G>A (p.Gly695Arg)
c.2116G>A (p.Gly706Arg)
c.2104G>A (p.Gly702Arg)
c.2095G>A (p.Gly699Arg)
c.1996G>A (p.Gly666Arg)
c.1984G>A (p.Gly662Arg)
c.1381G>A (p.Gly461Arg)
 dbSNP gnomAD v4
19g.18059915A=CA2326165143IL12RB1c.1962T= (p.Asp654=)
c.2082T= (p.Asp694=)
c.2115T= (p.Asp705=)
c.2103T= (p.Asp701=)
c.2094T= (p.Asp698=)
c.1995T= (p.Asp665=)
c.1983T= (p.Asp661=)
c.1380T= (p.Asp460=)
19g.18059915A>CCA404774850IL12RB1c.1962T>G (p.Asp654Glu)
c.2082T>G (p.Asp694Glu)
c.2115T>G (p.Asp705Glu)
c.2103T>G (p.Asp701Glu)
c.2094T>G (p.Asp698Glu)
c.1995T>G (p.Asp665Glu)
c.1983T>G (p.Asp661Glu)
c.1380T>G (p.Asp460Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.18059915A>GCA506025774IL12RB1c.1962T>C (p.Asp654=)
c.2082T>C (p.Asp694=)
c.2115T>C (p.Asp705=)
c.2103T>C (p.Asp701=)
c.2094T>C (p.Asp698=)
c.1995T>C (p.Asp665=)
c.1983T>C (p.Asp661=)
c.1380T>C (p.Asp460=)
19g.18059915A>TCA404774849IL12RB1c.1962T>A (p.Asp654Glu)
c.2082T>A (p.Asp694Glu)
c.2115T>A (p.Asp705Glu)
c.2103T>A (p.Asp701Glu)
c.2094T>A (p.Asp698Glu)
c.1995T>A (p.Asp665Glu)
c.1983T>A (p.Asp661Glu)
c.1380T>A (p.Asp460Glu)
19g.18059916T>ACA404774852IL12RB1c.1961A>T (p.Asp654Val)
c.2081A>T (p.Asp694Val)
c.2114A>T (p.Asp705Val)
c.2102A>T (p.Asp701Val)
c.2093A>T (p.Asp698Val)
c.1994A>T (p.Asp665Val)
c.1982A>T (p.Asp661Val)
c.1379A>T (p.Asp460Val)
 dbSNP gnomAD v4
19g.18059916T>CCA404774854IL12RB1c.1961A>G (p.Asp654Gly)
c.2081A>G (p.Asp694Gly)
c.2114A>G (p.Asp705Gly)
c.2102A>G (p.Asp701Gly)
c.2093A>G (p.Asp698Gly)
c.1994A>G (p.Asp665Gly)
c.1982A>G (p.Asp661Gly)
c.1379A>G (p.Asp460Gly)
19g.18059916T>GCA404774856IL12RB1c.1961A>C (p.Asp654Ala)
c.2081A>C (p.Asp694Ala)
c.2114A>C (p.Asp705Ala)
c.2102A>C (p.Asp701Ala)
c.2093A>C (p.Asp698Ala)
c.1994A>C (p.Asp665Ala)
c.1982A>C (p.Asp661Ala)
c.1379A>C (p.Asp460Ala)
19g.18059917C>ACA404774857IL12RB1c.1960G>T (p.Asp654Tyr)
c.2080G>T (p.Asp694Tyr)
c.2113G>T (p.Asp705Tyr)
c.2101G>T (p.Asp701Tyr)
c.2092G>T (p.Asp698Tyr)
c.1993G>T (p.Asp665Tyr)
c.1981G>T (p.Asp661Tyr)
c.1378G>T (p.Asp460Tyr)
 gnomAD v4
19g.18059917C=CA2326165144IL12RB1c.1960G= (p.Asp654=)
c.2080G= (p.Asp694=)
c.2113G= (p.Asp705=)
c.2101G= (p.Asp701=)
c.2092G= (p.Asp698=)
c.1993G= (p.Asp665=)
c.1981G= (p.Asp661=)
c.1378G= (p.Asp460=)
19g.18059917C>GCA404774858IL12RB1c.1960G>C (p.Asp654His)
c.2080G>C (p.Asp694His)
c.2113G>C (p.Asp705His)
c.2101G>C (p.Asp701His)
c.2092G>C (p.Asp698His)
c.1993G>C (p.Asp665His)
c.1981G>C (p.Asp661His)
c.1378G>C (p.Asp460His)
19g.18059917C>TCA9304645IL12RB1c.1960G>A (p.Asp654Asn)
c.2080G>A (p.Asp694Asn)
c.2113G>A (p.Asp705Asn)
c.2101G>A (p.Asp701Asn)
c.2092G>A (p.Asp698Asn)
c.1993G>A (p.Asp665Asn)
c.1981G>A (p.Asp661Asn)
c.1378G>A (p.Asp460Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18059918C>ACA404774861IL12RB1c.1959G>T (p.Glu653Asp)
c.2079G>T (p.Glu693Asp)
c.2112G>T (p.Glu704Asp)
c.2100G>T (p.Glu700Asp)
c.2091G>T (p.Glu697Asp)
c.1992G>T (p.Glu664Asp)
c.1980G>T (p.Glu660Asp)
c.1377G>T (p.Glu459Asp)
 gnomAD v4
19g.18059918C>GCA404774863IL12RB1c.1959G>C (p.Glu653Asp)
c.2079G>C (p.Glu693Asp)
c.2112G>C (p.Glu704Asp)
c.2100G>C (p.Glu700Asp)
c.2091G>C (p.Glu697Asp)
c.1992G>C (p.Glu664Asp)
c.1980G>C (p.Glu660Asp)
c.1377G>C (p.Glu459Asp)
19g.18059918C>TCA506025792IL12RB1c.1959G>A (p.Glu653=)
c.2079G>A (p.Glu693=)
c.2112G>A (p.Glu704=)
c.2100G>A (p.Glu700=)
c.2091G>A (p.Glu697=)
c.1992G>A (p.Glu664=)
c.1980G>A (p.Glu660=)
c.1377G>A (p.Glu459=)
 gnomAD v4
19g.18059919delCA2576719411IL12RB1c.1958del (p.Glu653GlyfsTer13)
c.1958del (p.Glu653GlyfsTer14)
c.2078del (p.Glu693GlyfsTer13)
c.2078del (p.Glu693GlyfsTer?)
c.2111del (p.Glu704GlyfsTer?)
c.2099del (p.Glu700GlyfsTer?)
c.2090del (p.Glu697GlyfsTer?)
c.2111del (p.Glu704GlyfsTer13)
c.2111del (p.Glu704GlyfsTer14)
c.1991del (p.Glu664GlyfsTer?)
c.1979del (p.Glu660GlyfsTer?)
c.2078del (p.Glu693GlyfsTer14)
c.1376del (p.Glu459GlyfsTer?)
19g.18059919T>ACA404774865IL12RB1c.1958A>T (p.Glu653Val)
c.2078A>T (p.Glu693Val)
c.2111A>T (p.Glu704Val)
c.2099A>T (p.Glu700Val)
c.2090A>T (p.Glu697Val)
c.1991A>T (p.Glu664Val)
c.1979A>T (p.Glu660Val)
c.1376A>T (p.Glu459Val)
 dbSNP gnomAD v4
19g.18059919T>CCA404774867IL12RB1c.1958A>G (p.Glu653Gly)
c.2078A>G (p.Glu693Gly)
c.2111A>G (p.Glu704Gly)
c.2099A>G (p.Glu700Gly)
c.2090A>G (p.Glu697Gly)
c.1991A>G (p.Glu664Gly)
c.1979A>G (p.Glu660Gly)
c.1376A>G (p.Glu459Gly)
 gnomAD v4
19g.18059919T>GCA404774869IL12RB1c.1958A>C (p.Glu653Ala)
c.2078A>C (p.Glu693Ala)
c.2111A>C (p.Glu704Ala)
c.2099A>C (p.Glu700Ala)
c.2090A>C (p.Glu697Ala)
c.1991A>C (p.Glu664Ala)
c.1979A>C (p.Glu660Ala)
c.1376A>C (p.Glu459Ala)
19g.18059920C>ACA404774870IL12RB1c.1957G>T (p.Glu653Ter)
c.2077G>T (p.Glu693Ter)
c.2110G>T (p.Glu704Ter)
c.2098G>T (p.Glu700Ter)
c.2089G>T (p.Glu697Ter)
c.1990G>T (p.Glu664Ter)
c.1978G>T (p.Glu660Ter)
c.1375G>T (p.Glu459Ter)
 gnomAD v4
19g.18059920C>GCA404774872IL12RB1c.1957G>C (p.Glu653Gln)
c.2077G>C (p.Glu693Gln)
c.2110G>C (p.Glu704Gln)
c.2098G>C (p.Glu700Gln)
c.2089G>C (p.Glu697Gln)
c.1990G>C (p.Glu664Gln)
c.1978G>C (p.Glu660Gln)
c.1375G>C (p.Glu459Gln)
19g.18059920C>TCA404774873IL12RB1c.1957G>A (p.Glu653Lys)
c.2077G>A (p.Glu693Lys)
c.2110G>A (p.Glu704Lys)
c.2098G>A (p.Glu700Lys)
c.2089G>A (p.Glu697Lys)
c.1990G>A (p.Glu664Lys)
c.1978G>A (p.Glu660Lys)
c.1375G>A (p.Glu459Lys)
 gnomAD v4
19g.18059921C>ACA306158733IL12RB1c.1956G>T (p.Leu652Phe)
c.2076G>T (p.Leu692Phe)
c.2109G>T (p.Leu703Phe)
c.2097G>T (p.Leu699Phe)
c.2088G>T (p.Leu696Phe)
c.1989G>T (p.Leu663Phe)
c.1977G>T (p.Leu659Phe)
c.1374G>T (p.Leu458Phe)
 dbSNP gnomAD v4
19g.18059921C=CA2326165145IL12RB1c.1956G= (p.Leu652=)
c.2076G= (p.Leu692=)
c.2109G= (p.Leu703=)
c.2097G= (p.Leu699=)
c.2088G= (p.Leu696=)
c.1989G= (p.Leu663=)
c.1977G= (p.Leu659=)
c.1374G= (p.Leu458=)
19g.18059921C>GCA404774875IL12RB1c.1956G>C (p.Leu652Phe)
c.2076G>C (p.Leu692Phe)
c.2109G>C (p.Leu703Phe)
c.2097G>C (p.Leu699Phe)
c.2088G>C (p.Leu696Phe)
c.1989G>C (p.Leu663Phe)
c.1977G>C (p.Leu659Phe)
c.1374G>C (p.Leu458Phe)
19g.18059921C>TCA506025810IL12RB1c.1956G>A (p.Leu652=)
c.2076G>A (p.Leu692=)
c.2109G>A (p.Leu703=)
c.2097G>A (p.Leu699=)
c.2088G>A (p.Leu696=)
c.1989G>A (p.Leu663=)
c.1977G>A (p.Leu659=)
c.1374G>A (p.Leu458=)
 gnomAD v4
19g.18059922A>CCA404774876IL12RB1c.1955T>G (p.Leu652Trp)
c.2075T>G (p.Leu692Trp)
c.2108T>G (p.Leu703Trp)
c.2096T>G (p.Leu699Trp)
c.2087T>G (p.Leu696Trp)
c.1988T>G (p.Leu663Trp)
c.1976T>G (p.Leu659Trp)
c.1373T>G (p.Leu458Trp)
19g.18059922A>GCA404774878IL12RB1c.1955T>C (p.Leu652Ser)
c.2075T>C (p.Leu692Ser)
c.2108T>C (p.Leu703Ser)
c.2096T>C (p.Leu699Ser)
c.2087T>C (p.Leu696Ser)
c.1988T>C (p.Leu663Ser)
c.1976T>C (p.Leu659Ser)
c.1373T>C (p.Leu458Ser)
19g.18059922A>TCA404774879IL12RB1c.1955T>A (p.Leu652Ter)
c.2075T>A (p.Leu692Ter)
c.2108T>A (p.Leu703Ter)
c.2096T>A (p.Leu699Ter)
c.2087T>A (p.Leu696Ter)
c.1988T>A (p.Leu663Ter)
c.1976T>A (p.Leu659Ter)
c.1373T>A (p.Leu458Ter)
19g.18059923A>CCA404774881IL12RB1c.1954T>G (p.Leu652Val)
c.2074T>G (p.Leu692Val)
c.2107T>G (p.Leu703Val)
c.2095T>G (p.Leu699Val)
c.2086T>G (p.Leu696Val)
c.1987T>G (p.Leu663Val)
c.1975T>G (p.Leu659Val)
c.1372T>G (p.Leu458Val)
19g.18059923A>GCA506025820IL12RB1c.1954T>C (p.Leu652=)
c.2074T>C (p.Leu692=)
c.2107T>C (p.Leu703=)
c.2095T>C (p.Leu699=)
c.2086T>C (p.Leu696=)
c.1987T>C (p.Leu663=)
c.1975T>C (p.Leu659=)
c.1372T>C (p.Leu458=)
 gnomAD v4
19g.18059923A>TCA404774883IL12RB1c.1954T>A (p.Leu652Met)
c.2074T>A (p.Leu692Met)
c.2107T>A (p.Leu703Met)
c.2095T>A (p.Leu699Met)
c.2086T>A (p.Leu696Met)
c.1987T>A (p.Leu663Met)
c.1975T>A (p.Leu659Met)
c.1372T>A (p.Leu458Met)
19g.18059924G>ACA506025823IL12RB1c.1953C>T (p.Ser651=)
c.2073C>T (p.Ser691=)
c.2106C>T (p.Ser702=)
c.2094C>T (p.Ser698=)
c.2085C>T (p.Ser695=)
c.1986C>T (p.Ser662=)
c.1974C>T (p.Ser658=)
c.1371C>T (p.Ser457=)
 dbSNP gnomAD v2 gnomAD v4
19g.18059924G>CCA506025825IL12RB1c.1953C>G (p.Ser651=)
c.2073C>G (p.Ser691=)
c.2106C>G (p.Ser702=)
c.2094C>G (p.Ser698=)
c.2085C>G (p.Ser695=)
c.1986C>G (p.Ser662=)
c.1974C>G (p.Ser658=)
c.1371C>G (p.Ser457=)
 gnomAD v4
19g.18059924G=CA2326165146IL12RB1c.1953C= (p.Ser651=)
c.2073C= (p.Ser691=)
c.2106C= (p.Ser702=)
c.2094C= (p.Ser698=)
c.2085C= (p.Ser695=)
c.1986C= (p.Ser662=)
c.1974C= (p.Ser658=)
c.1371C= (p.Ser457=)
19g.18059924G>TCA506025826IL12RB1c.1953C>A (p.Ser651=)
c.2073C>A (p.Ser691=)
c.2106C>A (p.Ser702=)
c.2094C>A (p.Ser698=)
c.2085C>A (p.Ser695=)
c.1986C>A (p.Ser662=)
c.1974C>A (p.Ser658=)
c.1371C>A (p.Ser457=)
 gnomAD v4
19g.18059925delCA2583508594IL12RB1c.1953del (p.Leu652TrpfsTer14)
c.1953del (p.Leu652TrpfsTer15)
c.2073del (p.Leu692TrpfsTer14)
c.2073del (p.Leu692TrpfsTer?)
c.2106del (p.Leu703TrpfsTer?)
c.2094del (p.Leu699TrpfsTer?)
c.2085del (p.Leu696TrpfsTer?)
c.2106del (p.Leu703TrpfsTer14)
c.2106del (p.Leu703TrpfsTer15)
c.1986del (p.Leu663TrpfsTer?)
c.1974del (p.Leu659TrpfsTer?)
c.2073del (p.Leu692TrpfsTer15)
c.1371del (p.Leu458TrpfsTer?)
 gnomAD v4
19g.18059925G>ACA404774884IL12RB1c.1952C>T (p.Ser651Phe)
c.2072C>T (p.Ser691Phe)
c.2105C>T (p.Ser702Phe)
c.2093C>T (p.Ser698Phe)
c.2084C>T (p.Ser695Phe)
c.1985C>T (p.Ser662Phe)
c.1973C>T (p.Ser658Phe)
c.1370C>T (p.Ser457Phe)
 gnomAD v4
19g.18059925G>CCA404774886IL12RB1c.1952C>G (p.Ser651Cys)
c.2072C>G (p.Ser691Cys)
c.2105C>G (p.Ser702Cys)
c.2093C>G (p.Ser698Cys)
c.2084C>G (p.Ser695Cys)
c.1985C>G (p.Ser662Cys)
c.1973C>G (p.Ser658Cys)
c.1370C>G (p.Ser457Cys)
19g.18059925G=CA2326165147IL12RB1c.1952C= (p.Ser651=)
c.2072C= (p.Ser691=)
c.2105C= (p.Ser702=)
c.2093C= (p.Ser698=)
c.2084C= (p.Ser695=)
c.1985C= (p.Ser662=)
c.1973C= (p.Ser658=)
c.1370C= (p.Ser457=)
19g.18059925G>TCA404774889IL12RB1c.1952C>A (p.Ser651Tyr)
c.2072C>A (p.Ser691Tyr)
c.2105C>A (p.Ser702Tyr)
c.2093C>A (p.Ser698Tyr)
c.2084C>A (p.Ser695Tyr)
c.1985C>A (p.Ser662Tyr)
c.1973C>A (p.Ser658Tyr)
c.1370C>A (p.Ser457Tyr)
 dbSNP
19g.18059926A>CCA404774890IL12RB1c.1951T>G (p.Ser651Ala)
c.2071T>G (p.Ser691Ala)
c.2104T>G (p.Ser702Ala)
c.2092T>G (p.Ser698Ala)
c.2083T>G (p.Ser695Ala)
c.1984T>G (p.Ser662Ala)
c.1972T>G (p.Ser658Ala)
c.1369T>G (p.Ser457Ala)
19g.18059926A>GCA404774891IL12RB1c.1951T>C (p.Ser651Pro)
c.2071T>C (p.Ser691Pro)
c.2104T>C (p.Ser702Pro)
c.2092T>C (p.Ser698Pro)
c.2083T>C (p.Ser695Pro)
c.1984T>C (p.Ser662Pro)
c.1972T>C (p.Ser658Pro)
c.1369T>C (p.Ser457Pro)
19g.18059926A>TCA404774892IL12RB1c.1951T>A (p.Ser651Thr)
c.2071T>A (p.Ser691Thr)
c.2104T>A (p.Ser702Thr)
c.2092T>A (p.Ser698Thr)
c.2083T>A (p.Ser695Thr)
c.1984T>A (p.Ser662Thr)
c.1972T>A (p.Ser658Thr)
c.1369T>A (p.Ser457Thr)
 gnomAD v4
19g.18059927C>ACA404774894IL12RB1c.1950G>T (p.Leu650Phe)
c.2070G>T (p.Leu690Phe)
c.2103G>T (p.Leu701Phe)
c.2091G>T (p.Leu697Phe)
c.2082G>T (p.Leu694Phe)
c.1983G>T (p.Leu661Phe)
c.1971G>T (p.Leu657Phe)
c.1368G>T (p.Leu456Phe)
 gnomAD v4
19g.18059927C>GCA404774897IL12RB1c.1950G>C (p.Leu650Phe)
c.2070G>C (p.Leu690Phe)
c.2103G>C (p.Leu701Phe)
c.2091G>C (p.Leu697Phe)
c.2082G>C (p.Leu694Phe)
c.1983G>C (p.Leu661Phe)
c.1971G>C (p.Leu657Phe)
c.1368G>C (p.Leu456Phe)
19g.18059927C>TCA506025837IL12RB1c.1950G>A (p.Leu650=)
c.2070G>A (p.Leu690=)
c.2103G>A (p.Leu701=)
c.2091G>A (p.Leu697=)
c.2082G>A (p.Leu694=)
c.1983G>A (p.Leu661=)
c.1971G>A (p.Leu657=)
c.1368G>A (p.Leu456=)
19g.18059928A>CCA404774901IL12RB1c.1949T>G (p.Leu650Trp)
c.2069T>G (p.Leu690Trp)
c.2102T>G (p.Leu701Trp)
c.2090T>G (p.Leu697Trp)
c.2081T>G (p.Leu694Trp)
c.1982T>G (p.Leu661Trp)
c.1970T>G (p.Leu657Trp)
c.1367T>G (p.Leu456Trp)
19g.18059928A>GCA404774903IL12RB1c.1949T>C (p.Leu650Ser)
c.2069T>C (p.Leu690Ser)
c.2102T>C (p.Leu701Ser)
c.2090T>C (p.Leu697Ser)
c.2081T>C (p.Leu694Ser)
c.1982T>C (p.Leu661Ser)
c.1970T>C (p.Leu657Ser)
c.1367T>C (p.Leu456Ser)
 gnomAD v4
19g.18059928A>TCA404774899IL12RB1c.1949T>A (p.Leu650Ter)
c.2069T>A (p.Leu690Ter)
c.2102T>A (p.Leu701Ter)
c.2090T>A (p.Leu697Ter)
c.2081T>A (p.Leu694Ter)
c.1982T>A (p.Leu661Ter)
c.1970T>A (p.Leu657Ter)
c.1367T>A (p.Leu456Ter)
19g.18059929A=CA2326165148IL12RB1c.1948T= (p.Leu650=)
c.2068T= (p.Leu690=)
c.2101T= (p.Leu701=)
c.2089T= (p.Leu697=)
c.2080T= (p.Leu694=)
c.1981T= (p.Leu661=)
c.1969T= (p.Leu657=)
c.1366T= (p.Leu456=)
19g.18059929A>CCA404774907IL12RB1c.1948T>G (p.Leu650Val)
c.2068T>G (p.Leu690Val)
c.2101T>G (p.Leu701Val)
c.2089T>G (p.Leu697Val)
c.2080T>G (p.Leu694Val)
c.1981T>G (p.Leu661Val)
c.1969T>G (p.Leu657Val)
c.1366T>G (p.Leu456Val)
19g.18059929A>GCA506025843IL12RB1c.1948T>C (p.Leu650=)
c.2068T>C (p.Leu690=)
c.2101T>C (p.Leu701=)
c.2089T>C (p.Leu697=)
c.2080T>C (p.Leu694=)
c.1981T>C (p.Leu661=)
c.1969T>C (p.Leu657=)
c.1366T>C (p.Leu456=)
 dbSNP gnomAD v3 gnomAD v4
19g.18059929A>TCA404774905IL12RB1c.1948T>A (p.Leu650Met)
c.2068T>A (p.Leu690Met)
c.2101T>A (p.Leu701Met)
c.2089T>A (p.Leu697Met)
c.2080T>A (p.Leu694Met)
c.1981T>A (p.Leu661Met)
c.1969T>A (p.Leu657Met)
c.1366T>A (p.Leu456Met)
19g.18059930C>ACA404774910IL12RB1c.1947G>T (p.Glu649Asp)
c.2067G>T (p.Glu689Asp)
c.2100G>T (p.Glu700Asp)
c.2088G>T (p.Glu696Asp)
c.2079G>T (p.Glu693Asp)
c.1980G>T (p.Glu660Asp)
c.1968G>T (p.Glu656Asp)
c.1365G>T (p.Glu455Asp)
 gnomAD v4
19g.18059930C>GCA404774908IL12RB1c.1947G>C (p.Glu649Asp)
c.2067G>C (p.Glu689Asp)
c.2100G>C (p.Glu700Asp)
c.2088G>C (p.Glu696Asp)
c.2079G>C (p.Glu693Asp)
c.1980G>C (p.Glu660Asp)
c.1968G>C (p.Glu656Asp)
c.1365G>C (p.Glu455Asp)
19g.18059930C>TCA506025846IL12RB1c.1947G>A (p.Glu649=)
c.2067G>A (p.Glu689=)
c.2100G>A (p.Glu700=)
c.2088G>A (p.Glu696=)
c.2079G>A (p.Glu693=)
c.1980G>A (p.Glu660=)
c.1968G>A (p.Glu656=)
c.1365G>A (p.Glu455=)
 gnomAD v4
19g.18059931T>ACA404774917IL12RB1c.1946A>T (p.Glu649Val)
c.2066A>T (p.Glu689Val)
c.2099A>T (p.Glu700Val)
c.2087A>T (p.Glu696Val)
c.2078A>T (p.Glu693Val)
c.1979A>T (p.Glu660Val)
c.1967A>T (p.Glu656Val)
c.1364A>T (p.Glu455Val)
19g.18059931T>CCA404774912IL12RB1c.1946A>G (p.Glu649Gly)
c.2066A>G (p.Glu689Gly)
c.2099A>G (p.Glu700Gly)
c.2087A>G (p.Glu696Gly)
c.2078A>G (p.Glu693Gly)
c.1979A>G (p.Glu660Gly)
c.1967A>G (p.Glu656Gly)
c.1364A>G (p.Glu455Gly)
19g.18059931T>GCA404774915IL12RB1c.1946A>C (p.Glu649Ala)
c.2066A>C (p.Glu689Ala)
c.2099A>C (p.Glu700Ala)
c.2087A>C (p.Glu696Ala)
c.2078A>C (p.Glu693Ala)
c.1979A>C (p.Glu660Ala)
c.1967A>C (p.Glu656Ala)
c.1364A>C (p.Glu455Ala)
19g.18059932C>ACA404774921IL12RB1c.1945G>T (p.Glu649Ter)
c.2065G>T (p.Glu689Ter)
c.2098G>T (p.Glu700Ter)
c.2086G>T (p.Glu696Ter)
c.2077G>T (p.Glu693Ter)
c.1978G>T (p.Glu660Ter)
c.1966G>T (p.Glu656Ter)
c.1363G>T (p.Glu455Ter)
 gnomAD v4
19g.18059932C>GCA404774924IL12RB1c.1945G>C (p.Glu649Gln)
c.2065G>C (p.Glu689Gln)
c.2098G>C (p.Glu700Gln)
c.2086G>C (p.Glu696Gln)
c.2077G>C (p.Glu693Gln)
c.1978G>C (p.Glu660Gln)
c.1966G>C (p.Glu656Gln)
c.1363G>C (p.Glu455Gln)
19g.18059932C>TCA404774926IL12RB1c.1945G>A (p.Glu649Lys)
c.2065G>A (p.Glu689Lys)
c.2098G>A (p.Glu700Lys)
c.2086G>A (p.Glu696Lys)
c.2077G>A (p.Glu693Lys)
c.1978G>A (p.Glu660Lys)
c.1966G>A (p.Glu656Lys)
c.1363G>A (p.Glu455Lys)
19g.18059932_18059934delinsCTGCA2326165149IL12RB1c.1943_1945delinsCAG (p.Thr648=)
c.2063_2065delinsCAG (p.Thr688=)
c.2096_2098delinsCAG (p.Thr699=)
c.2084_2086delinsCAG (p.Thr695=)
c.2075_2077delinsCAG (p.Thr692=)
c.1976_1978delinsCAG (p.Thr659=)
c.1964_1966delinsCAG (p.Thr655=)
c.1361_1363delinsCAG (p.Thr454=)
19g.18059933T>ACA506025858IL12RB1c.1944A>T (p.Thr648=)
c.2064A>T (p.Thr688=)
c.2097A>T (p.Thr699=)
c.2085A>T (p.Thr695=)
c.2076A>T (p.Thr692=)
c.1977A>T (p.Thr659=)
c.1965A>T (p.Thr655=)
c.1362A>T (p.Thr454=)
19g.18059933T>CCA506025860IL12RB1c.1944A>G (p.Thr648=)
c.2064A>G (p.Thr688=)
c.2097A>G (p.Thr699=)
c.2085A>G (p.Thr695=)
c.2076A>G (p.Thr692=)
c.1977A>G (p.Thr659=)
c.1965A>G (p.Thr655=)
c.1362A>G (p.Thr454=)
 gnomAD v4
19g.18059933T>GCA9304647IL12RB1c.1944A>C (p.Thr648=)
c.2064A>C (p.Thr688=)
c.2097A>C (p.Thr699=)
c.2085A>C (p.Thr695=)
c.2076A>C (p.Thr692=)
c.1977A>C (p.Thr659=)
c.1965A>C (p.Thr655=)
c.1362A>C (p.Thr454=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059933T=CA2326165150IL12RB1c.1944A= (p.Thr648=)
c.2064A= (p.Thr688=)
c.2097A= (p.Thr699=)
c.2085A= (p.Thr695=)
c.2076A= (p.Thr692=)
c.1977A= (p.Thr659=)
c.1965A= (p.Thr655=)
c.1362A= (p.Thr454=)
19g.18059934_18059935delCA9304646IL12RB1c.1943_1944del (p.Thr648ArgfsTer23)
c.1943_1944del (p.Thr648ArgfsTer11)
c.2063_2064del (p.Thr688ArgfsTer23)
c.2063_2064del (p.Thr688ArgfsTer?)
c.2096_2097del (p.Thr699ArgfsTer23)
c.2084_2085del (p.Thr695ArgfsTer23)
c.2075_2076del (p.Thr692ArgfsTer23)
c.2096_2097del (p.Thr699ArgfsTer?)
c.2096_2097del (p.Thr699ArgfsTer11)
c.1976_1977del (p.Thr659ArgfsTer23)
c.1964_1965del (p.Thr655ArgfsTer23)
c.2063_2064del (p.Thr688ArgfsTer11)
c.1361_1362del (p.Thr454ArgfsTer23)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059934G>ACA404774933IL12RB1c.1943C>T (p.Thr648Ile)
c.2063C>T (p.Thr688Ile)
c.2096C>T (p.Thr699Ile)
c.2084C>T (p.Thr695Ile)
c.2075C>T (p.Thr692Ile)
c.1976C>T (p.Thr659Ile)
c.1964C>T (p.Thr655Ile)
c.1361C>T (p.Thr454Ile)
 gnomAD v4
19g.18059934G>CCA404774934IL12RB1c.1943C>G (p.Thr648Arg)
c.2063C>G (p.Thr688Arg)
c.2096C>G (p.Thr699Arg)
c.2084C>G (p.Thr695Arg)
c.2075C>G (p.Thr692Arg)
c.1976C>G (p.Thr659Arg)
c.1964C>G (p.Thr655Arg)
c.1361C>G (p.Thr454Arg)
19g.18059934G>TCA404774937IL12RB1c.1943C>A (p.Thr648Lys)
c.2063C>A (p.Thr688Lys)
c.2096C>A (p.Thr699Lys)
c.2084C>A (p.Thr695Lys)
c.2075C>A (p.Thr692Lys)
c.1976C>A (p.Thr659Lys)
c.1964C>A (p.Thr655Lys)
c.1361C>A (p.Thr454Lys)
 gnomAD v4
19g.18059935T>ACA404774943IL12RB1c.1942A>T (p.Thr648Ser)
c.2062A>T (p.Thr688Ser)
c.2095A>T (p.Thr699Ser)
c.2083A>T (p.Thr695Ser)
c.2074A>T (p.Thr692Ser)
c.1975A>T (p.Thr659Ser)
c.1963A>T (p.Thr655Ser)
c.1360A>T (p.Thr454Ser)
19g.18059935T>CCA404774942IL12RB1c.1942A>G (p.Thr648Ala)
c.2062A>G (p.Thr688Ala)
c.2095A>G (p.Thr699Ala)
c.2083A>G (p.Thr695Ala)
c.2074A>G (p.Thr692Ala)
c.1975A>G (p.Thr659Ala)
c.1963A>G (p.Thr655Ala)
c.1360A>G (p.Thr454Ala)
 gnomAD v4
19g.18059935T>GCA404774940IL12RB1c.1942A>C (p.Thr648Pro)
c.2062A>C (p.Thr688Pro)
c.2095A>C (p.Thr699Pro)
c.2083A>C (p.Thr695Pro)
c.2074A>C (p.Thr692Pro)
c.1975A>C (p.Thr659Pro)
c.1963A>C (p.Thr655Pro)
c.1360A>C (p.Thr454Pro)
19g.18059936A>CCA404774945IL12RB1c.1941T>G (p.Asp647Glu)
c.2061T>G (p.Asp687Glu)
c.2094T>G (p.Asp698Glu)
c.2082T>G (p.Asp694Glu)
c.2073T>G (p.Asp691Glu)
c.1974T>G (p.Asp658Glu)
c.1962T>G (p.Asp654Glu)
c.1359T>G (p.Asp453Glu)
19g.18059936A>GCA506025870IL12RB1c.1941T>C (p.Asp647=)
c.2061T>C (p.Asp687=)
c.2094T>C (p.Asp698=)
c.2082T>C (p.Asp694=)
c.2073T>C (p.Asp691=)
c.1974T>C (p.Asp658=)
c.1962T>C (p.Asp654=)
c.1359T>C (p.Asp453=)
19g.18059936A>TCA404774947IL12RB1c.1941T>A (p.Asp647Glu)
c.2061T>A (p.Asp687Glu)
c.2094T>A (p.Asp698Glu)
c.2082T>A (p.Asp694Glu)
c.2073T>A (p.Asp691Glu)
c.1974T>A (p.Asp658Glu)
c.1962T>A (p.Asp654Glu)
c.1359T>A (p.Asp453Glu)
19g.18059937T>ACA404774951IL12RB1c.1940A>T (p.Asp647Val)
c.2060A>T (p.Asp687Val)
c.2093A>T (p.Asp698Val)
c.2081A>T (p.Asp694Val)
c.2072A>T (p.Asp691Val)
c.1973A>T (p.Asp658Val)
c.1961A>T (p.Asp654Val)
c.1358A>T (p.Asp453Val)
19g.18059937T>CCA306158744IL12RB1c.1940A>G (p.Asp647Gly)
c.2060A>G (p.Asp687Gly)
c.2093A>G (p.Asp698Gly)
c.2081A>G (p.Asp694Gly)
c.2072A>G (p.Asp691Gly)
c.1973A>G (p.Asp658Gly)
c.1961A>G (p.Asp654Gly)
c.1358A>G (p.Asp453Gly)
 dbSNP
19g.18059937T>GCA404774953IL12RB1c.1940A>C (p.Asp647Ala)
c.2060A>C (p.Asp687Ala)
c.2093A>C (p.Asp698Ala)
c.2081A>C (p.Asp694Ala)
c.2072A>C (p.Asp691Ala)
c.1973A>C (p.Asp658Ala)
c.1961A>C (p.Asp654Ala)
c.1358A>C (p.Asp453Ala)
19g.18059937T=CA2326165151IL12RB1c.1940A= (p.Asp647=)
c.2060A= (p.Asp687=)
c.2093A= (p.Asp698=)
c.2081A= (p.Asp694=)
c.2072A= (p.Asp691=)
c.1973A= (p.Asp658=)
c.1961A= (p.Asp654=)
c.1358A= (p.Asp453=)
19g.18059938C>ACA404774956IL12RB1c.1939G>T (p.Asp647Tyr)
c.2059G>T (p.Asp687Tyr)
c.2092G>T (p.Asp698Tyr)
c.2080G>T (p.Asp694Tyr)
c.2071G>T (p.Asp691Tyr)
c.1972G>T (p.Asp658Tyr)
c.1960G>T (p.Asp654Tyr)
c.1357G>T (p.Asp453Tyr)
 gnomAD v4
19g.18059938C>GCA404774958IL12RB1c.1939G>C (p.Asp647His)
c.2059G>C (p.Asp687His)
c.2092G>C (p.Asp698His)
c.2080G>C (p.Asp694His)
c.2071G>C (p.Asp691His)
c.1972G>C (p.Asp658His)
c.1960G>C (p.Asp654His)
c.1357G>C (p.Asp453His)
19g.18059938C>TCA404774960IL12RB1c.1939G>A (p.Asp647Asn)
c.2059G>A (p.Asp687Asn)
c.2092G>A (p.Asp698Asn)
c.2080G>A (p.Asp694Asn)
c.2071G>A (p.Asp691Asn)
c.1972G>A (p.Asp658Asn)
c.1960G>A (p.Asp654Asn)
c.1357G>A (p.Asp453Asn)
 gnomAD v4 COSMIC COSMIC
19g.18059939C>ACA506025879IL12RB1c.1938G>T (p.Leu646=)
c.2058G>T (p.Leu686=)
c.2091G>T (p.Leu697=)
c.2079G>T (p.Leu693=)
c.2070G>T (p.Leu690=)
c.1971G>T (p.Leu657=)
c.1959G>T (p.Leu653=)
c.1356G>T (p.Leu452=)
 gnomAD v4
19g.18059939C=CA2326165152IL12RB1c.1938G= (p.Leu646=)
c.2058G= (p.Leu686=)
c.2091G= (p.Leu697=)
c.2079G= (p.Leu693=)
c.2070G= (p.Leu690=)
c.1971G= (p.Leu657=)
c.1959G= (p.Leu653=)
c.1356G= (p.Leu452=)
19g.18059939C>GCA506025882IL12RB1c.1938G>C (p.Leu646=)
c.2058G>C (p.Leu686=)
c.2091G>C (p.Leu697=)
c.2079G>C (p.Leu693=)
c.2070G>C (p.Leu690=)
c.1971G>C (p.Leu657=)
c.1959G>C (p.Leu653=)
c.1356G>C (p.Leu452=)
19g.18059939C>TCA9304648IL12RB1c.1938G>A (p.Leu646=)
c.2058G>A (p.Leu686=)
c.2091G>A (p.Leu697=)
c.2079G>A (p.Leu693=)
c.2070G>A (p.Leu690=)
c.1971G>A (p.Leu657=)
c.1959G>A (p.Leu653=)
c.1356G>A (p.Leu452=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059940A>CCA404774963IL12RB1c.1937T>G (p.Leu646Arg)
c.2057T>G (p.Leu686Arg)
c.2090T>G (p.Leu697Arg)
c.2078T>G (p.Leu693Arg)
c.2069T>G (p.Leu690Arg)
c.1970T>G (p.Leu657Arg)
c.1958T>G (p.Leu653Arg)
c.1355T>G (p.Leu452Arg)
19g.18059940A>GCA404774965IL12RB1c.1937T>C (p.Leu646Pro)
c.2057T>C (p.Leu686Pro)
c.2090T>C (p.Leu697Pro)
c.2078T>C (p.Leu693Pro)
c.2069T>C (p.Leu690Pro)
c.1970T>C (p.Leu657Pro)
c.1958T>C (p.Leu653Pro)
c.1355T>C (p.Leu452Pro)
 gnomAD v4
19g.18059940A>TCA404774966IL12RB1c.1937T>A (p.Leu646Gln)
c.2057T>A (p.Leu686Gln)
c.2090T>A (p.Leu697Gln)
c.2078T>A (p.Leu693Gln)
c.2069T>A (p.Leu690Gln)
c.1970T>A (p.Leu657Gln)
c.1958T>A (p.Leu653Gln)
c.1355T>A (p.Leu452Gln)
 gnomAD v4
19g.18059941G>ACA506025889IL12RB1c.1936C>T (p.Leu646=)
c.2056C>T (p.Leu686=)
c.2089C>T (p.Leu697=)
c.2077C>T (p.Leu693=)
c.2068C>T (p.Leu690=)
c.1969C>T (p.Leu657=)
c.1957C>T (p.Leu653=)
c.1354C>T (p.Leu452=)
19g.18059941G>CCA404774968IL12RB1c.1936C>G (p.Leu646Val)
c.2056C>G (p.Leu686Val)
c.2089C>G (p.Leu697Val)
c.2077C>G (p.Leu693Val)
c.2068C>G (p.Leu690Val)
c.1969C>G (p.Leu657Val)
c.1957C>G (p.Leu653Val)
c.1354C>G (p.Leu452Val)
19g.18059941G>TCA404774967IL12RB1c.1936C>A (p.Leu646Met)
c.2056C>A (p.Leu686Met)
c.2089C>A (p.Leu697Met)
c.2077C>A (p.Leu693Met)
c.2068C>A (p.Leu690Met)
c.1969C>A (p.Leu657Met)
c.1957C>A (p.Leu653Met)
c.1354C>A (p.Leu452Met)
 gnomAD v4
19g.18059942G>ACA506025894IL12RB1c.1935C>T (p.Ala645=)
c.2055C>T (p.Ala685=)
c.2088C>T (p.Ala696=)
c.2076C>T (p.Ala692=)
c.2067C>T (p.Ala689=)
c.1968C>T (p.Ala656=)
c.1956C>T (p.Ala652=)
c.1353C>T (p.Ala451=)
 gnomAD v4
19g.18059942G>CCA506025896IL12RB1c.1935C>G (p.Ala645=)
c.2055C>G (p.Ala685=)
c.2088C>G (p.Ala696=)
c.2076C>G (p.Ala692=)
c.2067C>G (p.Ala689=)
c.1968C>G (p.Ala656=)
c.1956C>G (p.Ala652=)
c.1353C>G (p.Ala451=)
19g.18059942G>TCA506025898IL12RB1c.1935C>A (p.Ala645=)
c.2055C>A (p.Ala685=)
c.2088C>A (p.Ala696=)
c.2076C>A (p.Ala692=)
c.2067C>A (p.Ala689=)
c.1968C>A (p.Ala656=)
c.1956C>A (p.Ala652=)
c.1353C>A (p.Ala451=)
 gnomAD v4
19g.18059943G>ACA404774971IL12RB1c.1934C>T (p.Ala645Val)
c.2054C>T (p.Ala685Val)
c.2087C>T (p.Ala696Val)
c.2075C>T (p.Ala692Val)
c.2066C>T (p.Ala689Val)
c.1967C>T (p.Ala656Val)
c.1955C>T (p.Ala652Val)
c.1352C>T (p.Ala451Val)
 gnomAD v4
19g.18059943G>CCA404774972IL12RB1c.1934C>G (p.Ala645Gly)
c.2054C>G (p.Ala685Gly)
c.2087C>G (p.Ala696Gly)
c.2075C>G (p.Ala692Gly)
c.2066C>G (p.Ala689Gly)
c.1967C>G (p.Ala656Gly)
c.1955C>G (p.Ala652Gly)
c.1352C>G (p.Ala451Gly)
19g.18059943G>TCA404774974IL12RB1c.1934C>A (p.Ala645Asp)
c.2054C>A (p.Ala685Asp)
c.2087C>A (p.Ala696Asp)
c.2075C>A (p.Ala692Asp)
c.2066C>A (p.Ala689Asp)
c.1967C>A (p.Ala656Asp)
c.1955C>A (p.Ala652Asp)
c.1352C>A (p.Ala451Asp)
19g.18059944C>ACA404774975IL12RB1c.1933G>T (p.Ala645Ser)
c.2053G>T (p.Ala685Ser)
c.2086G>T (p.Ala696Ser)
c.2074G>T (p.Ala692Ser)
c.2065G>T (p.Ala689Ser)
c.1966G>T (p.Ala656Ser)
c.1954G>T (p.Ala652Ser)
c.1351G>T (p.Ala451Ser)
 gnomAD v4
19g.18059944C=CA2326165153IL12RB1c.1933G= (p.Ala645=)
c.2053G= (p.Ala685=)
c.2086G= (p.Ala696=)
c.2074G= (p.Ala692=)
c.2065G= (p.Ala689=)
c.1966G= (p.Ala656=)
c.1954G= (p.Ala652=)
c.1351G= (p.Ala451=)
19g.18059944C>GCA404774978IL12RB1c.1933G>C (p.Ala645Pro)
c.2053G>C (p.Ala685Pro)
c.2086G>C (p.Ala696Pro)
c.2074G>C (p.Ala692Pro)
c.2065G>C (p.Ala689Pro)
c.1966G>C (p.Ala656Pro)
c.1954G>C (p.Ala652Pro)
c.1351G>C (p.Ala451Pro)
 gnomAD v4
19g.18059944C>TCA404774980IL12RB1c.1933G>A (p.Ala645Thr)
c.2053G>A (p.Ala685Thr)
c.2086G>A (p.Ala696Thr)
c.2074G>A (p.Ala692Thr)
c.2065G>A (p.Ala689Thr)
c.1966G>A (p.Ala656Thr)
c.1954G>A (p.Ala652Thr)
c.1351G>A (p.Ala451Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.18059945C>ACA506025909IL12RB1c.1932G>T (p.Leu644=)
c.2052G>T (p.Leu684=)
c.2085G>T (p.Leu695=)
c.2073G>T (p.Leu691=)
c.2064G>T (p.Leu688=)
c.1965G>T (p.Leu655=)
c.1953G>T (p.Leu651=)
c.1350G>T (p.Leu450=)
19g.18059945C=CA2326165154IL12RB1c.1932G= (p.Leu644=)
c.2052G= (p.Leu684=)
c.2085G= (p.Leu695=)
c.2073G= (p.Leu691=)
c.2064G= (p.Leu688=)
c.1965G= (p.Leu655=)
c.1953G= (p.Leu651=)
c.1350G= (p.Leu450=)
19g.18059945C>GCA506025913IL12RB1c.1932G>C (p.Leu644=)
c.2052G>C (p.Leu684=)
c.2085G>C (p.Leu695=)
c.2073G>C (p.Leu691=)
c.2064G>C (p.Leu688=)
c.1965G>C (p.Leu655=)
c.1953G>C (p.Leu651=)
c.1350G>C (p.Leu450=)
19g.18059945C>TCA506025911IL12RB1c.1932G>A (p.Leu644=)
c.2052G>A (p.Leu684=)
c.2085G>A (p.Leu695=)
c.2073G>A (p.Leu691=)
c.2064G>A (p.Leu688=)
c.1965G>A (p.Leu655=)
c.1953G>A (p.Leu651=)
c.1350G>A (p.Leu450=)
 dbSNP gnomAD v2 gnomAD v4
19g.18059946A>CCA404774983IL12RB1c.1931T>G (p.Leu644Arg)
c.2051T>G (p.Leu684Arg)
c.2084T>G (p.Leu695Arg)
c.2072T>G (p.Leu691Arg)
c.2063T>G (p.Leu688Arg)
c.1964T>G (p.Leu655Arg)
c.1952T>G (p.Leu651Arg)
c.1349T>G (p.Leu450Arg)
19g.18059946A>GCA404774985IL12RB1c.1931T>C (p.Leu644Pro)
c.2051T>C (p.Leu684Pro)
c.2084T>C (p.Leu695Pro)
c.2072T>C (p.Leu691Pro)
c.2063T>C (p.Leu688Pro)
c.1964T>C (p.Leu655Pro)
c.1952T>C (p.Leu651Pro)
c.1349T>C (p.Leu450Pro)
19g.18059946A>TCA404774987IL12RB1c.1931T>A (p.Leu644Gln)
c.2051T>A (p.Leu684Gln)
c.2084T>A (p.Leu695Gln)
c.2072T>A (p.Leu691Gln)
c.2063T>A (p.Leu688Gln)
c.1964T>A (p.Leu655Gln)
c.1952T>A (p.Leu651Gln)
c.1349T>A (p.Leu450Gln)
19g.18059947G>ACA506025919IL12RB1c.1930C>T (p.Leu644=)
c.2050C>T (p.Leu684=)
c.2083C>T (p.Leu695=)
c.2071C>T (p.Leu691=)
c.2062C>T (p.Leu688=)
c.1963C>T (p.Leu655=)
c.1951C>T (p.Leu651=)
c.1348C>T (p.Leu450=)
 gnomAD v4
19g.18059947G>CCA404774989IL12RB1c.1930C>G (p.Leu644Val)
c.2050C>G (p.Leu684Val)
c.2083C>G (p.Leu695Val)
c.2071C>G (p.Leu691Val)
c.2062C>G (p.Leu688Val)
c.1963C>G (p.Leu655Val)
c.1951C>G (p.Leu651Val)
c.1348C>G (p.Leu450Val)
 dbSNP gnomAD v3 gnomAD v4
19g.18059947G=CA2326165155IL12RB1c.1930C= (p.Leu644=)
c.2050C= (p.Leu684=)
c.2083C= (p.Leu695=)
c.2071C= (p.Leu691=)
c.2062C= (p.Leu688=)
c.1963C= (p.Leu655=)
c.1951C= (p.Leu651=)
c.1348C= (p.Leu450=)
19g.18059947G>TCA404774990IL12RB1c.1930C>A (p.Leu644Met)
c.2050C>A (p.Leu684Met)
c.2083C>A (p.Leu695Met)
c.2071C>A (p.Leu691Met)
c.2062C>A (p.Leu688Met)
c.1963C>A (p.Leu655Met)
c.1951C>A (p.Leu651Met)
c.1348C>A (p.Leu450Met)
 gnomAD v4
19g.18059948C>ACA404774992IL12RB1c.1929G>T (p.Glu643Asp)
c.2049G>T (p.Glu683Asp)
c.2082G>T (p.Glu694Asp)
c.2070G>T (p.Glu690Asp)
c.2061G>T (p.Glu687Asp)
c.1962G>T (p.Glu654Asp)
c.1950G>T (p.Glu650Asp)
c.1347G>T (p.Glu449Asp)
 gnomAD v4
19g.18059948C=CA2326165156IL12RB1c.1929G= (p.Glu643=)
c.2049G= (p.Glu683=)
c.2082G= (p.Glu694=)
c.2070G= (p.Glu690=)
c.2061G= (p.Glu687=)
c.1962G= (p.Glu654=)
c.1950G= (p.Glu650=)
c.1347G= (p.Glu449=)
19g.18059948C>GCA404774994IL12RB1c.1929G>C (p.Glu643Asp)
c.2049G>C (p.Glu683Asp)
c.2082G>C (p.Glu694Asp)
c.2070G>C (p.Glu690Asp)
c.2061G>C (p.Glu687Asp)
c.1962G>C (p.Glu654Asp)
c.1950G>C (p.Glu650Asp)
c.1347G>C (p.Glu449Asp)
19g.18059948C>TCA506025923IL12RB1c.1929G>A (p.Glu643=)
c.2049G>A (p.Glu683=)
c.2082G>A (p.Glu694=)
c.2070G>A (p.Glu690=)
c.2061G>A (p.Glu687=)
c.1962G>A (p.Glu654=)
c.1950G>A (p.Glu650=)
c.1347G>A (p.Glu449=)
 dbSNP gnomAD v2
19g.18059949T>ACA404774998IL12RB1c.1928A>T (p.Glu643Val)
c.2048A>T (p.Glu683Val)
c.2081A>T (p.Glu694Val)
c.2069A>T (p.Glu690Val)
c.2060A>T (p.Glu687Val)
c.1961A>T (p.Glu654Val)
c.1949A>T (p.Glu650Val)
c.1346A>T (p.Glu449Val)
19g.18059949T>CCA404774995IL12RB1c.1928A>G (p.Glu643Gly)
c.2048A>G (p.Glu683Gly)
c.2081A>G (p.Glu694Gly)
c.2069A>G (p.Glu690Gly)
c.2060A>G (p.Glu687Gly)
c.1961A>G (p.Glu654Gly)
c.1949A>G (p.Glu650Gly)
c.1346A>G (p.Glu449Gly)
 gnomAD v4
19g.18059949T>GCA404774997IL12RB1c.1928A>C (p.Glu643Ala)
c.2048A>C (p.Glu683Ala)
c.2081A>C (p.Glu694Ala)
c.2069A>C (p.Glu690Ala)
c.2060A>C (p.Glu687Ala)
c.1961A>C (p.Glu654Ala)
c.1949A>C (p.Glu650Ala)
c.1346A>C (p.Glu449Ala)
19g.18059950C>ACA404775001IL12RB1c.1927G>T (p.Glu643Ter)
c.2047G>T (p.Glu683Ter)
c.2080G>T (p.Glu694Ter)
c.2068G>T (p.Glu690Ter)
c.2059G>T (p.Glu687Ter)
c.1960G>T (p.Glu654Ter)
c.1948G>T (p.Glu650Ter)
c.1345G>T (p.Glu449Ter)
 gnomAD v4
19g.18059950C=CA2326165157IL12RB1c.1927G= (p.Glu643=)
c.2047G= (p.Glu683=)
c.2080G= (p.Glu694=)
c.2068G= (p.Glu690=)
c.2059G= (p.Glu687=)
c.1960G= (p.Glu654=)
c.1948G= (p.Glu650=)
c.1345G= (p.Glu449=)
19g.18059950C>GCA404775003IL12RB1c.1927G>C (p.Glu643Gln)
c.2047G>C (p.Glu683Gln)
c.2080G>C (p.Glu694Gln)
c.2068G>C (p.Glu690Gln)
c.2059G>C (p.Glu687Gln)
c.1960G>C (p.Glu654Gln)
c.1948G>C (p.Glu650Gln)
c.1345G>C (p.Glu449Gln)
19g.18059950C>TCA404775004IL12RB1c.1927G>A (p.Glu643Lys)
c.2047G>A (p.Glu683Lys)
c.2080G>A (p.Glu694Lys)
c.2068G>A (p.Glu690Lys)
c.2059G>A (p.Glu687Lys)
c.1960G>A (p.Glu654Lys)
c.1948G>A (p.Glu650Lys)
c.1345G>A (p.Glu449Lys)
 dbSNP gnomAD v4
19g.18059951A>CCA506025935IL12RB1c.1926T>G (p.Pro642=)
c.2046T>G (p.Pro682=)
c.2079T>G (p.Pro693=)
c.2067T>G (p.Pro689=)
c.2058T>G (p.Pro686=)
c.1959T>G (p.Pro653=)
c.1947T>G (p.Pro649=)
c.1344T>G (p.Pro448=)
19g.18059951A>GCA506025936IL12RB1c.1926T>C (p.Pro642=)
c.2046T>C (p.Pro682=)
c.2079T>C (p.Pro693=)
c.2067T>C (p.Pro689=)
c.2058T>C (p.Pro686=)
c.1959T>C (p.Pro653=)
c.1947T>C (p.Pro649=)
c.1344T>C (p.Pro448=)
 gnomAD v4
19g.18059951A>TCA506025942IL12RB1c.1926T>A (p.Pro642=)
c.2046T>A (p.Pro682=)
c.2079T>A (p.Pro693=)
c.2067T>A (p.Pro689=)
c.2058T>A (p.Pro686=)
c.1959T>A (p.Pro653=)
c.1947T>A (p.Pro649=)
c.1344T>A (p.Pro448=)
19g.18059952G>ACA404775007IL12RB1c.1925C>T (p.Pro642Leu)
c.2045C>T (p.Pro682Leu)
c.2078C>T (p.Pro693Leu)
c.2066C>T (p.Pro689Leu)
c.2057C>T (p.Pro686Leu)
c.1958C>T (p.Pro653Leu)
c.1946C>T (p.Pro649Leu)
c.1343C>T (p.Pro448Leu)
 COSMIC COSMIC
19g.18059952G>CCA404775009IL12RB1c.1925C>G (p.Pro642Arg)
c.2045C>G (p.Pro682Arg)
c.2078C>G (p.Pro693Arg)
c.2066C>G (p.Pro689Arg)
c.2057C>G (p.Pro686Arg)
c.1958C>G (p.Pro653Arg)
c.1946C>G (p.Pro649Arg)
c.1343C>G (p.Pro448Arg)
19g.18059952G>TCA404775010IL12RB1c.1925C>A (p.Pro642His)
c.2045C>A (p.Pro682His)
c.2078C>A (p.Pro693His)
c.2066C>A (p.Pro689His)
c.2057C>A (p.Pro686His)
c.1958C>A (p.Pro653His)
c.1946C>A (p.Pro649His)
c.1343C>A (p.Pro448His)
 gnomAD v4
19g.18059953G>ACA9304649IL12RB1c.1924C>T (p.Pro642Ser)
c.2044C>T (p.Pro682Ser)
c.2077C>T (p.Pro693Ser)
c.2065C>T (p.Pro689Ser)
c.2056C>T (p.Pro686Ser)
c.1957C>T (p.Pro653Ser)
c.1945C>T (p.Pro649Ser)
c.1342C>T (p.Pro448Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059953G>CCA404775014IL12RB1c.1924C>G (p.Pro642Ala)
c.2044C>G (p.Pro682Ala)
c.2077C>G (p.Pro693Ala)
c.2065C>G (p.Pro689Ala)
c.2056C>G (p.Pro686Ala)
c.1957C>G (p.Pro653Ala)
c.1945C>G (p.Pro649Ala)
c.1342C>G (p.Pro448Ala)
19g.18059953G=CA2326165158IL12RB1c.1924C= (p.Pro642=)
c.2044C= (p.Pro682=)
c.2077C= (p.Pro693=)
c.2065C= (p.Pro689=)
c.2056C= (p.Pro686=)
c.1957C= (p.Pro653=)
c.1945C= (p.Pro649=)
c.1342C= (p.Pro448=)
19g.18059953G>TCA404775015IL12RB1c.1924C>A (p.Pro642Thr)
c.2044C>A (p.Pro682Thr)
c.2077C>A (p.Pro693Thr)
c.2065C>A (p.Pro689Thr)
c.2056C>A (p.Pro686Thr)
c.1957C>A (p.Pro653Thr)
c.1945C>A (p.Pro649Thr)
c.1342C>A (p.Pro448Thr)
 gnomAD v4
19g.18059954G>ACA506025949IL12RB1c.1923C>T (p.Ala641=)
c.2043C>T (p.Ala681=)
c.2076C>T (p.Ala692=)
c.2064C>T (p.Ala688=)
c.2055C>T (p.Ala685=)
c.1956C>T (p.Ala652=)
c.1944C>T (p.Ala648=)
c.1341C>T (p.Ala447=)
 COSMIC COSMIC
19g.18059954G>CCA506025951IL12RB1c.1923C>G (p.Ala641=)
c.2043C>G (p.Ala681=)
c.2076C>G (p.Ala692=)
c.2064C>G (p.Ala688=)
c.2055C>G (p.Ala685=)
c.1956C>G (p.Ala652=)
c.1944C>G (p.Ala648=)
c.1341C>G (p.Ala447=)
 gnomAD v4
19g.18059954G>TCA506025953IL12RB1c.1923C>A (p.Ala641=)
c.2043C>A (p.Ala681=)
c.2076C>A (p.Ala692=)
c.2064C>A (p.Ala688=)
c.2055C>A (p.Ala685=)
c.1956C>A (p.Ala652=)
c.1944C>A (p.Ala648=)
c.1341C>A (p.Ala447=)
 gnomAD v4
19g.18059954_18059957delinsGGCACA2326165159IL12RB1c.1920_1923delinsTGCC (p.Gly640=)
c.2040_2043delinsTGCC (p.Gly680=)
c.2073_2076delinsTGCC (p.Gly691=)
c.2061_2064delinsTGCC (p.Gly687=)
c.2052_2055delinsTGCC (p.Gly684=)
c.1953_1956delinsTGCC (p.Gly651=)
c.1941_1944delinsTGCC (p.Gly647=)
c.1338_1341delinsTGCC (p.Gly446=)
19g.18059955G>ACA404775018IL12RB1c.1922C>T (p.Ala641Val)
c.2042C>T (p.Ala681Val)
c.2075C>T (p.Ala692Val)
c.2063C>T (p.Ala688Val)
c.2054C>T (p.Ala685Val)
c.1955C>T (p.Ala652Val)
c.1943C>T (p.Ala648Val)
c.1340C>T (p.Ala447Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.18059955G>CCA404775019IL12RB1c.1922C>G (p.Ala641Gly)
c.2042C>G (p.Ala681Gly)
c.2075C>G (p.Ala692Gly)
c.2063C>G (p.Ala688Gly)
c.2054C>G (p.Ala685Gly)
c.1955C>G (p.Ala652Gly)
c.1943C>G (p.Ala648Gly)
c.1340C>G (p.Ala447Gly)
19g.18059955G=CA2326165160IL12RB1c.1922C= (p.Ala641=)
c.2042C= (p.Ala681=)
c.2075C= (p.Ala692=)
c.2063C= (p.Ala688=)
c.2054C= (p.Ala685=)
c.1955C= (p.Ala652=)
c.1943C= (p.Ala648=)
c.1340C= (p.Ala447=)
19g.18059955G>TCA404775021IL12RB1c.1922C>A (p.Ala641Asp)
c.2042C>A (p.Ala681Asp)
c.2075C>A (p.Ala692Asp)
c.2063C>A (p.Ala688Asp)
c.2054C>A (p.Ala685Asp)
c.1955C>A (p.Ala652Asp)
c.1943C>A (p.Ala648Asp)
c.1340C>A (p.Ala447Asp)
 dbSNP gnomAD v3 gnomAD v4
19g.18059955_18059957delCA306158752IL12RB1c.1920_1922del (p.Ala641del)
c.2040_2042del (p.Ala681del)
c.2073_2075del (p.Ala692del)
c.2061_2063del (p.Ala688del)
c.2052_2054del (p.Ala685del)
c.1953_1955del (p.Ala652del)
c.1941_1943del (p.Ala648del)
c.1338_1340del (p.Ala447del)
 dbSNP gnomAD v3 gnomAD v4
19g.18059956C>ACA404775025IL12RB1c.1921G>T (p.Ala641Ser)
c.2041G>T (p.Ala681Ser)
c.2074G>T (p.Ala692Ser)
c.2062G>T (p.Ala688Ser)
c.2053G>T (p.Ala685Ser)
c.1954G>T (p.Ala652Ser)
c.1942G>T (p.Ala648Ser)
c.1339G>T (p.Ala447Ser)
 gnomAD v4
19g.18059956C=CA2326165161IL12RB1c.1921G= (p.Ala641=)
c.2041G= (p.Ala681=)
c.2074G= (p.Ala692=)
c.2062G= (p.Ala688=)
c.2053G= (p.Ala685=)
c.1954G= (p.Ala652=)
c.1942G= (p.Ala648=)
c.1339G= (p.Ala447=)
19g.18059956C>GCA404775027IL12RB1c.1921G>C (p.Ala641Pro)
c.2041G>C (p.Ala681Pro)
c.2074G>C (p.Ala692Pro)
c.2062G>C (p.Ala688Pro)
c.2053G>C (p.Ala685Pro)
c.1954G>C (p.Ala652Pro)
c.1942G>C (p.Ala648Pro)
c.1339G>C (p.Ala447Pro)
19g.18059956C>TCA404775023IL12RB1c.1921G>A (p.Ala641Thr)
c.2041G>A (p.Ala681Thr)
c.2074G>A (p.Ala692Thr)
c.2062G>A (p.Ala688Thr)
c.2053G>A (p.Ala685Thr)
c.1954G>A (p.Ala652Thr)
c.1942G>A (p.Ala648Thr)
c.1339G>A (p.Ala447Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.18059957A>CCA506025968IL12RB1c.1920T>G (p.Gly640=)
c.2040T>G (p.Gly680=)
c.2073T>G (p.Gly691=)
c.2061T>G (p.Gly687=)
c.2052T>G (p.Gly684=)
c.1953T>G (p.Gly651=)
c.1941T>G (p.Gly647=)
c.1338T>G (p.Gly446=)
19g.18059957A>GCA506025970IL12RB1c.1920T>C (p.Gly640=)
c.2040T>C (p.Gly680=)
c.2073T>C (p.Gly691=)
c.2061T>C (p.Gly687=)
c.2052T>C (p.Gly684=)
c.1953T>C (p.Gly651=)
c.1941T>C (p.Gly647=)
c.1338T>C (p.Gly446=)
19g.18059957A>TCA506025966IL12RB1c.1920T>A (p.Gly640=)
c.2040T>A (p.Gly680=)
c.2073T>A (p.Gly691=)
c.2061T>A (p.Gly687=)
c.2052T>A (p.Gly684=)
c.1953T>A (p.Gly651=)
c.1941T>A (p.Gly647=)
c.1338T>A (p.Gly446=)
19g.18059958C>ACA404775033IL12RB1c.1919G>T (p.Gly640Val)
c.2039G>T (p.Gly680Val)
c.2072G>T (p.Gly691Val)
c.2060G>T (p.Gly687Val)
c.2051G>T (p.Gly684Val)
c.1952G>T (p.Gly651Val)
c.1940G>T (p.Gly647Val)
c.1337G>T (p.Gly446Val)
 dbSNP gnomAD v4
19g.18059958C=CA2326165162IL12RB1c.1919G= (p.Gly640=)
c.2039G= (p.Gly680=)
c.2072G= (p.Gly691=)
c.2060G= (p.Gly687=)
c.2051G= (p.Gly684=)
c.1952G= (p.Gly651=)
c.1940G= (p.Gly647=)
c.1337G= (p.Gly446=)
19g.18059958C>GCA404775029IL12RB1c.1919G>C (p.Gly640Ala)
c.2039G>C (p.Gly680Ala)
c.2072G>C (p.Gly691Ala)
c.2060G>C (p.Gly687Ala)
c.2051G>C (p.Gly684Ala)
c.1952G>C (p.Gly651Ala)
c.1940G>C (p.Gly647Ala)
c.1337G>C (p.Gly446Ala)
19g.18059958C>TCA404775031IL12RB1c.1919G>A (p.Gly640Asp)
c.2039G>A (p.Gly680Asp)
c.2072G>A (p.Gly691Asp)
c.2060G>A (p.Gly687Asp)
c.2051G>A (p.Gly684Asp)
c.1952G>A (p.Gly651Asp)
c.1940G>A (p.Gly647Asp)
c.1337G>A (p.Gly446Asp)
 dbSNP gnomAD v4
19g.18059959C>ACA404775035IL12RB1c.1918G>T (p.Gly640Cys)
c.2038G>T (p.Gly680Cys)
c.2071G>T (p.Gly691Cys)
c.2059G>T (p.Gly687Cys)
c.2050G>T (p.Gly684Cys)
c.1951G>T (p.Gly651Cys)
c.1939G>T (p.Gly647Cys)
c.1336G>T (p.Gly446Cys)
19g.18059959C>GCA404775036IL12RB1c.1918G>C (p.Gly640Arg)
c.2038G>C (p.Gly680Arg)
c.2071G>C (p.Gly691Arg)
c.2059G>C (p.Gly687Arg)
c.2050G>C (p.Gly684Arg)
c.1951G>C (p.Gly651Arg)
c.1939G>C (p.Gly647Arg)
c.1336G>C (p.Gly446Arg)
19g.18059959C>TCA404775038IL12RB1c.1918G>A (p.Gly640Ser)
c.2038G>A (p.Gly680Ser)
c.2071G>A (p.Gly691Ser)
c.2059G>A (p.Gly687Ser)
c.2050G>A (p.Gly684Ser)
c.1951G>A (p.Gly651Ser)
c.1939G>A (p.Gly647Ser)
c.1336G>A (p.Gly446Ser)
19g.18059960C>ACA404775040IL12RB1c.1917G>T (p.Glu639Asp)
c.2037G>T (p.Glu679Asp)
c.2070G>T (p.Glu690Asp)
c.2058G>T (p.Glu686Asp)
c.2049G>T (p.Glu683Asp)
c.1950G>T (p.Glu650Asp)
c.1938G>T (p.Glu646Asp)
c.1335G>T (p.Glu445Asp)
 gnomAD v4
19g.18059960C=CA2326165163IL12RB1c.1917G= (p.Glu639=)
c.2037G= (p.Glu679=)
c.2070G= (p.Glu690=)
c.2058G= (p.Glu686=)
c.2049G= (p.Glu683=)
c.1950G= (p.Glu650=)
c.1938G= (p.Glu646=)
c.1335G= (p.Glu445=)
19g.18059960C>GCA404775042IL12RB1c.1917G>C (p.Glu639Asp)
c.2037G>C (p.Glu679Asp)
c.2070G>C (p.Glu690Asp)
c.2058G>C (p.Glu686Asp)
c.2049G>C (p.Glu683Asp)
c.1950G>C (p.Glu650Asp)
c.1938G>C (p.Glu646Asp)
c.1335G>C (p.Glu445Asp)
19g.18059960C>TCA506025983IL12RB1c.1917G>A (p.Glu639=)
c.2037G>A (p.Glu679=)
c.2070G>A (p.Glu690=)
c.2058G>A (p.Glu686=)
c.2049G>A (p.Glu683=)
c.1950G>A (p.Glu650=)
c.1938G>A (p.Glu646=)
c.1335G>A (p.Glu445=)
 dbSNP gnomAD v2
19g.18059961T>ACA404775044IL12RB1c.1916A>T (p.Glu639Val)
c.2036A>T (p.Glu679Val)
c.2069A>T (p.Glu690Val)
c.2057A>T (p.Glu686Val)
c.2048A>T (p.Glu683Val)
c.1949A>T (p.Glu650Val)
c.1937A>T (p.Glu646Val)
c.1334A>T (p.Glu445Val)
19g.18059961T>CCA404775047IL12RB1c.1916A>G (p.Glu639Gly)
c.2036A>G (p.Glu679Gly)
c.2069A>G (p.Glu690Gly)
c.2057A>G (p.Glu686Gly)
c.2048A>G (p.Glu683Gly)
c.1949A>G (p.Glu650Gly)
c.1937A>G (p.Glu646Gly)
c.1334A>G (p.Glu445Gly)
19g.18059961T>GCA404775046IL12RB1c.1916A>C (p.Glu639Ala)
c.2036A>C (p.Glu679Ala)
c.2069A>C (p.Glu690Ala)
c.2057A>C (p.Glu686Ala)
c.2048A>C (p.Glu683Ala)
c.1949A>C (p.Glu650Ala)
c.1937A>C (p.Glu646Ala)
c.1334A>C (p.Glu445Ala)
19g.18059962delCA2576719412IL12RB1c.1915del (p.Glu639ArgfsTer27)
c.1915del (p.Glu639ArgfsTer28)
c.2035del (p.Glu679ArgfsTer27)
c.2035del (p.Glu679ArgfsTer?)
c.2068del (p.Glu690ArgfsTer?)
c.2056del (p.Glu686ArgfsTer?)
c.2047del (p.Glu683ArgfsTer?)
c.2068del (p.Glu690ArgfsTer27)
c.2068del (p.Glu690ArgfsTer28)
c.1948del (p.Glu650ArgfsTer?)
c.1936del (p.Glu646ArgfsTer?)
c.2035del (p.Glu679ArgfsTer28)
c.1333del (p.Glu445ArgfsTer?)
19g.18059962C>ACA404775050IL12RB1c.1915G>T (p.Glu639Ter)
c.2035G>T (p.Glu679Ter)
c.2068G>T (p.Glu690Ter)
c.2056G>T (p.Glu686Ter)
c.2047G>T (p.Glu683Ter)
c.1948G>T (p.Glu650Ter)
c.1936G>T (p.Glu646Ter)
c.1333G>T (p.Glu445Ter)
 gnomAD v4
19g.18059962C>GCA404775051IL12RB1c.1915G>C (p.Glu639Gln)
c.2035G>C (p.Glu679Gln)
c.2068G>C (p.Glu690Gln)
c.2056G>C (p.Glu686Gln)
c.2047G>C (p.Glu683Gln)
c.1948G>C (p.Glu650Gln)
c.1936G>C (p.Glu646Gln)
c.1333G>C (p.Glu445Gln)
19g.18059962C>TCA404775053IL12RB1c.1915G>A (p.Glu639Lys)
c.2035G>A (p.Glu679Lys)
c.2068G>A (p.Glu690Lys)
c.2056G>A (p.Glu686Lys)
c.2047G>A (p.Glu683Lys)
c.1948G>A (p.Glu650Lys)
c.1936G>A (p.Glu646Lys)
c.1333G>A (p.Glu445Lys)
19g.18059963A=CA2326165164IL12RB1c.1914T= (p.Pro638=)
c.2034T= (p.Pro678=)
c.2067T= (p.Pro689=)
c.2055T= (p.Pro685=)
c.2046T= (p.Pro682=)
c.1947T= (p.Pro649=)
c.1935T= (p.Pro645=)
c.1332T= (p.Pro444=)
19g.18059963A>CCA506025996IL12RB1c.1914T>G (p.Pro638=)
c.2034T>G (p.Pro678=)
c.2067T>G (p.Pro689=)
c.2055T>G (p.Pro685=)
c.2046T>G (p.Pro682=)
c.1947T>G (p.Pro649=)
c.1935T>G (p.Pro645=)
c.1332T>G (p.Pro444=)
19g.18059963A>GCA9304650IL12RB1c.1914T>C (p.Pro638=)
c.2034T>C (p.Pro678=)
c.2067T>C (p.Pro689=)
c.2055T>C (p.Pro685=)
c.2046T>C (p.Pro682=)
c.1947T>C (p.Pro649=)
c.1935T>C (p.Pro645=)
c.1332T>C (p.Pro444=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18059963A>TCA506025999IL12RB1c.1914T>A (p.Pro638=)
c.2034T>A (p.Pro678=)
c.2067T>A (p.Pro689=)
c.2055T>A (p.Pro685=)
c.2046T>A (p.Pro682=)
c.1947T>A (p.Pro649=)
c.1935T>A (p.Pro645=)
c.1332T>A (p.Pro444=)
 dbSNP gnomAD v2 gnomAD v4
19g.18059964G>ACA404775054IL12RB1c.1913C>T (p.Pro638Leu)
c.2033C>T (p.Pro678Leu)
c.2066C>T (p.Pro689Leu)
c.2054C>T (p.Pro685Leu)
c.2045C>T (p.Pro682Leu)
c.1946C>T (p.Pro649Leu)
c.1934C>T (p.Pro645Leu)
c.1331C>T (p.Pro444Leu)
 dbSNP gnomAD v2
19g.18059964G>CCA404775057IL12RB1c.1913C>G (p.Pro638Arg)
c.2033C>G (p.Pro678Arg)
c.2066C>G (p.Pro689Arg)
c.2054C>G (p.Pro685Arg)
c.2045C>G (p.Pro682Arg)
c.1946C>G (p.Pro649Arg)
c.1934C>G (p.Pro645Arg)
c.1331C>G (p.Pro444Arg)
 gnomAD v4
19g.18059964G=CA2326165165IL12RB1c.1913C= (p.Pro638=)
c.2033C= (p.Pro678=)
c.2066C= (p.Pro689=)
c.2054C= (p.Pro685=)
c.2045C= (p.Pro682=)
c.1946C= (p.Pro649=)
c.1934C= (p.Pro645=)
c.1331C= (p.Pro444=)
19g.18059964G>TCA404775056IL12RB1c.1913C>A (p.Pro638His)
c.2033C>A (p.Pro678His)
c.2066C>A (p.Pro689His)
c.2054C>A (p.Pro685His)
c.2045C>A (p.Pro682His)
c.1946C>A (p.Pro649His)
c.1934C>A (p.Pro645His)
c.1331C>A (p.Pro444His)
 gnomAD v4
19g.18059965G>ACA404775059IL12RB1c.1912C>T (p.Pro638Ser)
c.2032C>T (p.Pro678Ser)
c.2065C>T (p.Pro689Ser)
c.2053C>T (p.Pro685Ser)
c.2044C>T (p.Pro682Ser)
c.1945C>T (p.Pro649Ser)
c.1933C>T (p.Pro645Ser)
c.1330C>T (p.Pro444Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18059965G>CCA404775061IL12RB1c.1912C>G (p.Pro638Ala)
c.2032C>G (p.Pro678Ala)
c.2065C>G (p.Pro689Ala)
c.2053C>G (p.Pro685Ala)
c.2044C>G (p.Pro682Ala)
c.1945C>G (p.Pro649Ala)
c.1933C>G (p.Pro645Ala)
c.1330C>G (p.Pro444Ala)
 gnomAD v4
19g.18059965G=CA2326165166IL12RB1c.1912C= (p.Pro638=)
c.2032C= (p.Pro678=)
c.2065C= (p.Pro689=)
c.2053C= (p.Pro685=)
c.2044C= (p.Pro682=)
c.1945C= (p.Pro649=)
c.1933C= (p.Pro645=)
c.1330C= (p.Pro444=)
19g.18059965G>TCA404775062IL12RB1c.1912C>A (p.Pro638Thr)
c.2032C>A (p.Pro678Thr)
c.2065C>A (p.Pro689Thr)
c.2053C>A (p.Pro685Thr)
c.2044C>A (p.Pro682Thr)
c.1945C>A (p.Pro649Thr)
c.1933C>A (p.Pro645Thr)
c.1330C>A (p.Pro444Thr)
19g.18059966T>ACA506026011IL12RB1c.1911A>T (p.Leu637=)
c.2031A>T (p.Leu677=)
c.2064A>T (p.Leu688=)
c.2052A>T (p.Leu684=)
c.2043A>T (p.Leu681=)
c.1944A>T (p.Leu648=)
c.1932A>T (p.Leu644=)
c.1329A>T (p.Leu443=)
19g.18059966T>CCA506026012IL12RB1c.1911A>G (p.Leu637=)
c.2031A>G (p.Leu677=)
c.2064A>G (p.Leu688=)
c.2052A>G (p.Leu684=)
c.2043A>G (p.Leu681=)
c.1944A>G (p.Leu648=)
c.1932A>G (p.Leu644=)
c.1329A>G (p.Leu443=)
19g.18059966T>GCA506026015IL12RB1c.1911A>C (p.Leu637=)
c.2031A>C (p.Leu677=)
c.2064A>C (p.Leu688=)
c.2052A>C (p.Leu684=)
c.2043A>C (p.Leu681=)
c.1944A>C (p.Leu648=)
c.1932A>C (p.Leu644=)
c.1329A>C (p.Leu443=)
19g.18059967A>CCA404775064IL12RB1c.1910T>G (p.Leu637Arg)
c.2030T>G (p.Leu677Arg)
c.2063T>G (p.Leu688Arg)
c.2051T>G (p.Leu684Arg)
c.2042T>G (p.Leu681Arg)
c.1943T>G (p.Leu648Arg)
c.1931T>G (p.Leu644Arg)
c.1328T>G (p.Leu443Arg)
19g.18059967A>GCA404775070IL12RB1c.1910T>C (p.Leu637Pro)
c.2030T>C (p.Leu677Pro)
c.2063T>C (p.Leu688Pro)
c.2051T>C (p.Leu684Pro)
c.2042T>C (p.Leu681Pro)
c.1943T>C (p.Leu648Pro)
c.1931T>C (p.Leu644Pro)
c.1328T>C (p.Leu443Pro)
 gnomAD v4
19g.18059967A>TCA404775073IL12RB1c.1910T>A (p.Leu637Gln)
c.2030T>A (p.Leu677Gln)
c.2063T>A (p.Leu688Gln)
c.2051T>A (p.Leu684Gln)
c.2042T>A (p.Leu681Gln)
c.1943T>A (p.Leu648Gln)
c.1931T>A (p.Leu644Gln)
c.1328T>A (p.Leu443Gln)
19g.18059968G>ACA506026021IL12RB1c.1909C>T (p.Leu637=)
c.2029C>T (p.Leu677=)
c.2062C>T (p.Leu688=)
c.2050C>T (p.Leu684=)
c.2041C>T (p.Leu681=)
c.1942C>T (p.Leu648=)
c.1930C>T (p.Leu644=)
c.1327C>T (p.Leu443=)
 gnomAD v4
19g.18059968G>CCA404775075IL12RB1c.1909C>G (p.Leu637Val)
c.2029C>G (p.Leu677Val)
c.2062C>G (p.Leu688Val)
c.2050C>G (p.Leu684Val)
c.2041C>G (p.Leu681Val)
c.1942C>G (p.Leu648Val)
c.1930C>G (p.Leu644Val)
c.1327C>G (p.Leu443Val)
19g.18059968G>TCA404775076IL12RB1c.1909C>A (p.Leu637Ile)
c.2029C>A (p.Leu677Ile)
c.2062C>A (p.Leu688Ile)
c.2050C>A (p.Leu684Ile)
c.2041C>A (p.Leu681Ile)
c.1942C>A (p.Leu648Ile)
c.1930C>A (p.Leu644Ile)
c.1327C>A (p.Leu443Ile)
 gnomAD v4
19g.18059969C>ACA404775079IL12RB1c.1908G>T (p.Glu636Asp)
c.2028G>T (p.Glu676Asp)
c.2061G>T (p.Glu687Asp)
c.2049G>T (p.Glu683Asp)
c.2040G>T (p.Glu680Asp)
c.1941G>T (p.Glu647Asp)
c.1929G>T (p.Glu643Asp)
c.1326G>T (p.Glu442Asp)
19g.18059969C=CA2326165167IL12RB1c.1908G= (p.Glu636=)
c.2028G= (p.Glu676=)
c.2061G= (p.Glu687=)
c.2049G= (p.Glu683=)
c.2040G= (p.Glu680=)
c.1941G= (p.Glu647=)
c.1929G= (p.Glu643=)
c.1326G= (p.Glu442=)
19g.18059969C>GCA404775081IL12RB1c.1908G>C (p.Glu636Asp)
c.2028G>C (p.Glu676Asp)
c.2061G>C (p.Glu687Asp)
c.2049G>C (p.Glu683Asp)
c.2040G>C (p.Glu680Asp)
c.1941G>C (p.Glu647Asp)
c.1929G>C (p.Glu643Asp)
c.1326G>C (p.Glu442Asp)
19g.18059969C>TCA9304651IL12RB1c.1908G>A (p.Glu636=)
c.2028G>A (p.Glu676=)
c.2061G>A (p.Glu687=)
c.2049G>A (p.Glu683=)
c.2040G>A (p.Glu680=)
c.1941G>A (p.Glu647=)
c.1929G>A (p.Glu643=)
c.1326G>A (p.Glu442=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18059971_18059972delCA645602279IL12RB1c.1907_1908del (p.Glu636AlafsTer3)
c.2027_2028del (p.Glu676AlafsTer3)
c.2060_2061del (p.Glu687AlafsTer3)
c.2048_2049del (p.Glu683AlafsTer3)
c.2039_2040del (p.Glu680AlafsTer3)
c.1940_1941del (p.Glu647AlafsTer3)
c.1928_1929del (p.Glu643AlafsTer3)
c.1325_1326del (p.Glu442AlafsTer3)
 gnomAD v4 COSMIC COSMIC
19g.18059970T>ACA404775087IL12RB1c.1907A>T (p.Glu636Val)
c.2027A>T (p.Glu676Val)
c.2060A>T (p.Glu687Val)
c.2048A>T (p.Glu683Val)
c.2039A>T (p.Glu680Val)
c.1940A>T (p.Glu647Val)
c.1928A>T (p.Glu643Val)
c.1325A>T (p.Glu442Val)
19g.18059970T>CCA404775086IL12RB1c.1907A>G (p.Glu636Gly)
c.2027A>G (p.Glu676Gly)
c.2060A>G (p.Glu687Gly)
c.2048A>G (p.Glu683Gly)
c.2039A>G (p.Glu680Gly)
c.1940A>G (p.Glu647Gly)
c.1928A>G (p.Glu643Gly)
c.1325A>G (p.Glu442Gly)
 gnomAD v4
19g.18059970T>GCA404775084IL12RB1c.1907A>C (p.Glu636Ala)
c.2027A>C (p.Glu676Ala)
c.2060A>C (p.Glu687Ala)
c.2048A>C (p.Glu683Ala)
c.2039A>C (p.Glu680Ala)
c.1940A>C (p.Glu647Ala)
c.1928A>C (p.Glu643Ala)
c.1325A>C (p.Glu442Ala)
19g.18059971C>ACA404775090IL12RB1c.1906G>T (p.Glu636Ter)
c.2026G>T (p.Glu676Ter)
c.2059G>T (p.Glu687Ter)
c.2047G>T (p.Glu683Ter)
c.2038G>T (p.Glu680Ter)
c.1939G>T (p.Glu647Ter)
c.1927G>T (p.Glu643Ter)
c.1324G>T (p.Glu442Ter)
19g.18059971C>GCA404775091IL12RB1c.1906G>C (p.Glu636Gln)
c.2026G>C (p.Glu676Gln)
c.2059G>C (p.Glu687Gln)
c.2047G>C (p.Glu683Gln)
c.2038G>C (p.Glu680Gln)
c.1939G>C (p.Glu647Gln)
c.1927G>C (p.Glu643Gln)
c.1324G>C (p.Glu442Gln)
19g.18059971C>TCA404775093IL12RB1c.1906G>A (p.Glu636Lys)
c.2026G>A (p.Glu676Lys)
c.2059G>A (p.Glu687Lys)
c.2047G>A (p.Glu683Lys)
c.2038G>A (p.Glu680Lys)
c.1939G>A (p.Glu647Lys)
c.1927G>A (p.Glu643Lys)
c.1324G>A (p.Glu442Lys)
19g.18059972T>ACA506026034IL12RB1c.1905A>T (p.Thr635=)
c.2025A>T (p.Thr675=)
c.2058A>T (p.Thr686=)
c.2046A>T (p.Thr682=)
c.2037A>T (p.Thr679=)
c.1938A>T (p.Thr646=)
c.1926A>T (p.Thr642=)
c.1323A>T (p.Thr441=)
19g.18059972T>CCA506026037IL12RB1c.1905A>G (p.Thr635=)
c.2025A>G (p.Thr675=)
c.2058A>G (p.Thr686=)
c.2046A>G (p.Thr682=)
c.2037A>G (p.Thr679=)
c.1938A>G (p.Thr646=)
c.1926A>G (p.Thr642=)
c.1323A>G (p.Thr441=)
 gnomAD v4
19g.18059972T>GCA506026038IL12RB1c.1905A>C (p.Thr635=)
c.2025A>C (p.Thr675=)
c.2058A>C (p.Thr686=)
c.2046A>C (p.Thr682=)
c.2037A>C (p.Thr679=)
c.1938A>C (p.Thr646=)
c.1926A>C (p.Thr642=)
c.1323A>C (p.Thr441=)
 gnomAD v4
19g.18059973G>ACA404775095IL12RB1c.1904C>T (p.Thr635Ile)
c.2024C>T (p.Thr675Ile)
c.2057C>T (p.Thr686Ile)
c.2045C>T (p.Thr682Ile)
c.2036C>T (p.Thr679Ile)
c.1937C>T (p.Thr646Ile)
c.1925C>T (p.Thr642Ile)
c.1322C>T (p.Thr441Ile)
 gnomAD v4
19g.18059973G>CCA404775097IL12RB1c.1904C>G (p.Thr635Arg)
c.2024C>G (p.Thr675Arg)
c.2057C>G (p.Thr686Arg)
c.2045C>G (p.Thr682Arg)
c.2036C>G (p.Thr679Arg)
c.1937C>G (p.Thr646Arg)
c.1925C>G (p.Thr642Arg)
c.1322C>G (p.Thr441Arg)
19g.18059973G>TCA404775098IL12RB1c.1904C>A (p.Thr635Lys)
c.2024C>A (p.Thr675Lys)
c.2057C>A (p.Thr686Lys)
c.2045C>A (p.Thr682Lys)
c.2036C>A (p.Thr679Lys)
c.1937C>A (p.Thr646Lys)
c.1925C>A (p.Thr642Lys)
c.1322C>A (p.Thr441Lys)
 gnomAD v4
19g.18059974T>ACA404775105IL12RB1c.1903A>T (p.Thr635Ser)
c.2023A>T (p.Thr675Ser)
c.2056A>T (p.Thr686Ser)
c.2044A>T (p.Thr682Ser)
c.2035A>T (p.Thr679Ser)
c.1936A>T (p.Thr646Ser)
c.1924A>T (p.Thr642Ser)
c.1321A>T (p.Thr441Ser)
 gnomAD v4
19g.18059974T>CCA404775101IL12RB1c.1903A>G (p.Thr635Ala)
c.2023A>G (p.Thr675Ala)
c.2056A>G (p.Thr686Ala)
c.2044A>G (p.Thr682Ala)
c.2035A>G (p.Thr679Ala)
c.1936A>G (p.Thr646Ala)
c.1924A>G (p.Thr642Ala)
c.1321A>G (p.Thr441Ala)
19g.18059974T>GCA404775103IL12RB1c.1903A>C (p.Thr635Pro)
c.2023A>C (p.Thr675Pro)
c.2056A>C (p.Thr686Pro)
c.2044A>C (p.Thr682Pro)
c.2035A>C (p.Thr679Pro)
c.1936A>C (p.Thr646Pro)
c.1924A>C (p.Thr642Pro)
c.1321A>C (p.Thr441Pro)
19g.18059975C>ACA404775107IL12RB1c.1902G>T (p.Lys634Asn)
c.2022G>T (p.Lys674Asn)
c.2055G>T (p.Lys685Asn)
c.2043G>T (p.Lys681Asn)
c.2034G>T (p.Lys678Asn)
c.1935G>T (p.Lys645Asn)
c.1923G>T (p.Lys641Asn)
c.1320G>T (p.Lys440Asn)
19g.18059975C>GCA404775109IL12RB1c.1902G>C (p.Lys634Asn)
c.2022G>C (p.Lys674Asn)
c.2055G>C (p.Lys685Asn)
c.2043G>C (p.Lys681Asn)
c.2034G>C (p.Lys678Asn)
c.1935G>C (p.Lys645Asn)
c.1923G>C (p.Lys641Asn)
c.1320G>C (p.Lys440Asn)
 gnomAD v4
19g.18059975C>TCA506026048IL12RB1c.1902G>A (p.Lys634=)
c.2022G>A (p.Lys674=)
c.2055G>A (p.Lys685=)
c.2043G>A (p.Lys681=)
c.2034G>A (p.Lys678=)
c.1935G>A (p.Lys645=)
c.1923G>A (p.Lys641=)
c.1320G>A (p.Lys440=)
 ClinVar dbSNP gnomAD v4
19g.18059976T>ACA404775111IL12RB1c.1901A>T (p.Lys634Met)
c.2021A>T (p.Lys674Met)
c.2054A>T (p.Lys685Met)
c.2042A>T (p.Lys681Met)
c.2033A>T (p.Lys678Met)
c.1934A>T (p.Lys645Met)
c.1922A>T (p.Lys641Met)
c.1319A>T (p.Lys440Met)
19g.18059976T>CCA404775113IL12RB1c.1901A>G (p.Lys634Arg)
c.2021A>G (p.Lys674Arg)
c.2054A>G (p.Lys685Arg)
c.2042A>G (p.Lys681Arg)
c.2033A>G (p.Lys678Arg)
c.1934A>G (p.Lys645Arg)
c.1922A>G (p.Lys641Arg)
c.1319A>G (p.Lys440Arg)
19g.18059976T>GCA404775115IL12RB1c.1901A>C (p.Lys634Thr)
c.2021A>C (p.Lys674Thr)
c.2054A>C (p.Lys685Thr)
c.2042A>C (p.Lys681Thr)
c.2033A>C (p.Lys678Thr)
c.1934A>C (p.Lys645Thr)
c.1922A>C (p.Lys641Thr)
c.1319A>C (p.Lys440Thr)
19g.18059977T>ACA404775117IL12RB1c.1900A>T (p.Lys634Ter)
c.2020A>T (p.Lys674Ter)
c.2053A>T (p.Lys685Ter)
c.2041A>T (p.Lys681Ter)
c.2032A>T (p.Lys678Ter)
c.1933A>T (p.Lys645Ter)
c.1921A>T (p.Lys641Ter)
c.1318A>T (p.Lys440Ter)
19g.18059977T>CCA404775121IL12RB1c.1900A>G (p.Lys634Glu)
c.2020A>G (p.Lys674Glu)
c.2053A>G (p.Lys685Glu)
c.2041A>G (p.Lys681Glu)
c.2032A>G (p.Lys678Glu)
c.1933A>G (p.Lys645Glu)
c.1921A>G (p.Lys641Glu)
c.1318A>G (p.Lys440Glu)
19g.18059977T>GCA404775119IL12RB1c.1900A>C (p.Lys634Gln)
c.2020A>C (p.Lys674Gln)
c.2053A>C (p.Lys685Gln)
c.2041A>C (p.Lys681Gln)
c.2032A>C (p.Lys678Gln)
c.1933A>C (p.Lys645Gln)
c.1921A>C (p.Lys641Gln)
c.1318A>C (p.Lys440Gln)
19g.18059978C>ACA404775123IL12RB1c.1899G>T (p.Glu633Asp)
c.2019G>T (p.Glu673Asp)
c.2052G>T (p.Glu684Asp)
c.2040G>T (p.Glu680Asp)
c.2031G>T (p.Glu677Asp)
c.1932G>T (p.Glu644Asp)
c.1920G>T (p.Glu640Asp)
c.1317G>T (p.Glu439Asp)
 gnomAD v4
19g.18059978C=CA2326165168IL12RB1c.1899G= (p.Glu633=)
c.2019G= (p.Glu673=)
c.2052G= (p.Glu684=)
c.2040G= (p.Glu680=)
c.2031G= (p.Glu677=)
c.1932G= (p.Glu644=)
c.1920G= (p.Glu640=)
c.1317G= (p.Glu439=)
19g.18059978C>GCA404775124IL12RB1c.1899G>C (p.Glu633Asp)
c.2019G>C (p.Glu673Asp)
c.2052G>C (p.Glu684Asp)
c.2040G>C (p.Glu680Asp)
c.2031G>C (p.Glu677Asp)
c.1932G>C (p.Glu644Asp)
c.1920G>C (p.Glu640Asp)
c.1317G>C (p.Glu439Asp)
19g.18059978C>TCA506026059IL12RB1c.1899G>A (p.Glu633=)
c.2019G>A (p.Glu673=)
c.2052G>A (p.Glu684=)
c.2040G>A (p.Glu680=)
c.2031G>A (p.Glu677=)
c.1932G>A (p.Glu644=)
c.1920G>A (p.Glu640=)
c.1317G>A (p.Glu439=)
 dbSNP gnomAD v2 gnomAD v4
19g.18059979T>ACA404775126IL12RB1c.1898A>T (p.Glu633Val)
c.2018A>T (p.Glu673Val)
c.2051A>T (p.Glu684Val)
c.2039A>T (p.Glu680Val)
c.2030A>T (p.Glu677Val)
c.1931A>T (p.Glu644Val)
c.1919A>T (p.Glu640Val)
c.1316A>T (p.Glu439Val)
19g.18059979T>CCA404775127IL12RB1c.1898A>G (p.Glu633Gly)
c.2018A>G (p.Glu673Gly)
c.2051A>G (p.Glu684Gly)
c.2039A>G (p.Glu680Gly)
c.2030A>G (p.Glu677Gly)
c.1931A>G (p.Glu644Gly)
c.1919A>G (p.Glu640Gly)
c.1316A>G (p.Glu439Gly)
19g.18059979T>GCA404775128IL12RB1c.1898A>C (p.Glu633Ala)
c.2018A>C (p.Glu673Ala)
c.2051A>C (p.Glu684Ala)
c.2039A>C (p.Glu680Ala)
c.2030A>C (p.Glu677Ala)
c.1931A>C (p.Glu644Ala)
c.1919A>C (p.Glu640Ala)
c.1316A>C (p.Glu439Ala)
 gnomAD v4
19g.18059980C>ACA9304652IL12RB1c.1897G>T (p.Glu633Ter)
c.2017G>T (p.Glu673Ter)
c.2050G>T (p.Glu684Ter)
c.2038G>T (p.Glu680Ter)
c.2029G>T (p.Glu677Ter)
c.1930G>T (p.Glu644Ter)
c.1918G>T (p.Glu640Ter)
c.1315G>T (p.Glu439Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059980C=CA2326165169IL12RB1c.1897G= (p.Glu633=)
c.2017G= (p.Glu673=)
c.2050G= (p.Glu684=)
c.2038G= (p.Glu680=)
c.2029G= (p.Glu677=)
c.1930G= (p.Glu644=)
c.1918G= (p.Glu640=)
c.1315G= (p.Glu439=)
19g.18059980C>GCA9304653IL12RB1c.1897G>C (p.Glu633Gln)
c.2017G>C (p.Glu673Gln)
c.2050G>C (p.Glu684Gln)
c.2038G>C (p.Glu680Gln)
c.2029G>C (p.Glu677Gln)
c.1930G>C (p.Glu644Gln)
c.1918G>C (p.Glu640Gln)
c.1315G>C (p.Glu439Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059980C>TCA9304654IL12RB1c.1897G>A (p.Glu633Lys)
c.2017G>A (p.Glu673Lys)
c.2050G>A (p.Glu684Lys)
c.2038G>A (p.Glu680Lys)
c.2029G>A (p.Glu677Lys)
c.1930G>A (p.Glu644Lys)
c.1918G>A (p.Glu640Lys)
c.1315G>A (p.Glu439Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18059981G>ACA9304655IL12RB1c.1896C>T (p.Leu632=)
c.2016C>T (p.Leu672=)
c.2049C>T (p.Leu683=)
c.2037C>T (p.Leu679=)
c.2028C>T (p.Leu676=)
c.1929C>T (p.Leu643=)
c.1917C>T (p.Leu639=)
c.1314C>T (p.Leu438=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059981G>CCA506026071IL12RB1c.1896C>G (p.Leu632=)
c.2016C>G (p.Leu672=)
c.2049C>G (p.Leu683=)
c.2037C>G (p.Leu679=)
c.2028C>G (p.Leu676=)
c.1929C>G (p.Leu643=)
c.1917C>G (p.Leu639=)
c.1314C>G (p.Leu438=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18059981G=CA2326165170IL12RB1c.1896C= (p.Leu632=)
c.2016C= (p.Leu672=)
c.2049C= (p.Leu683=)
c.2037C= (p.Leu679=)
c.2028C= (p.Leu676=)
c.1929C= (p.Leu643=)
c.1917C= (p.Leu639=)
c.1314C= (p.Leu438=)
19g.18059981G>TCA506026073IL12RB1c.1896C>A (p.Leu632=)
c.2016C>A (p.Leu672=)
c.2049C>A (p.Leu683=)
c.2037C>A (p.Leu679=)
c.2028C>A (p.Leu676=)
c.1929C>A (p.Leu643=)
c.1917C>A (p.Leu639=)
c.1314C>A (p.Leu438=)
 dbSNP gnomAD v2 gnomAD v4
19g.18059982A>CCA404775136IL12RB1c.1895T>G (p.Leu632Arg)
c.2015T>G (p.Leu672Arg)
c.2048T>G (p.Leu683Arg)
c.2036T>G (p.Leu679Arg)
c.2027T>G (p.Leu676Arg)
c.1928T>G (p.Leu643Arg)
c.1916T>G (p.Leu639Arg)
c.1313T>G (p.Leu438Arg)
19g.18059982A>GCA404775138IL12RB1c.1895T>C (p.Leu632Pro)
c.2015T>C (p.Leu672Pro)
c.2048T>C (p.Leu683Pro)
c.2036T>C (p.Leu679Pro)
c.2027T>C (p.Leu676Pro)
c.1928T>C (p.Leu643Pro)
c.1916T>C (p.Leu639Pro)
c.1313T>C (p.Leu438Pro)
19g.18059982A>TCA404775139IL12RB1c.1895T>A (p.Leu632His)
c.2015T>A (p.Leu672His)
c.2048T>A (p.Leu683His)
c.2036T>A (p.Leu679His)
c.2027T>A (p.Leu676His)
c.1928T>A (p.Leu643His)
c.1916T>A (p.Leu639His)
c.1313T>A (p.Leu438His)
19g.18059983G>ACA404775144IL12RB1c.1894C>T (p.Leu632Phe)
c.2014C>T (p.Leu672Phe)
c.2047C>T (p.Leu683Phe)
c.2035C>T (p.Leu679Phe)
c.2026C>T (p.Leu676Phe)
c.1927C>T (p.Leu643Phe)
c.1915C>T (p.Leu639Phe)
c.1312C>T (p.Leu438Phe)
 gnomAD v4
19g.18059983G>CCA404775145IL12RB1c.1894C>G (p.Leu632Val)
c.2014C>G (p.Leu672Val)
c.2047C>G (p.Leu683Val)
c.2035C>G (p.Leu679Val)
c.2026C>G (p.Leu676Val)
c.1927C>G (p.Leu643Val)
c.1915C>G (p.Leu639Val)
c.1312C>G (p.Leu438Val)
19g.18059983G>TCA404775142IL12RB1c.1894C>A (p.Leu632Ile)
c.2014C>A (p.Leu672Ile)
c.2047C>A (p.Leu683Ile)
c.2035C>A (p.Leu679Ile)
c.2026C>A (p.Leu676Ile)
c.1927C>A (p.Leu643Ile)
c.1915C>A (p.Leu639Ile)
c.1312C>A (p.Leu438Ile)
 dbSNP
19g.18059984A>CCA506026081IL12RB1c.1893T>G (p.Pro631=)
c.2013T>G (p.Pro671=)
c.2046T>G (p.Pro682=)
c.2034T>G (p.Pro678=)
c.2025T>G (p.Pro675=)
c.1926T>G (p.Pro642=)
c.1914T>G (p.Pro638=)
c.1311T>G (p.Pro437=)
19g.18059984A>GCA506026083IL12RB1c.1893T>C (p.Pro631=)
c.2013T>C (p.Pro671=)
c.2046T>C (p.Pro682=)
c.2034T>C (p.Pro678=)
c.2025T>C (p.Pro675=)
c.1926T>C (p.Pro642=)
c.1914T>C (p.Pro638=)
c.1311T>C (p.Pro437=)
 gnomAD v4
19g.18059984A>TCA506026085IL12RB1c.1893T>A (p.Pro631=)
c.2013T>A (p.Pro671=)
c.2046T>A (p.Pro682=)
c.2034T>A (p.Pro678=)
c.2025T>A (p.Pro675=)
c.1926T>A (p.Pro642=)
c.1914T>A (p.Pro638=)
c.1311T>A (p.Pro437=)
19g.18059985G>ACA9304657IL12RB1c.1892C>T (p.Pro631Leu)
c.2012C>T (p.Pro671Leu)
c.2045C>T (p.Pro682Leu)
c.2033C>T (p.Pro678Leu)
c.2024C>T (p.Pro675Leu)
c.1925C>T (p.Pro642Leu)
c.1913C>T (p.Pro638Leu)
c.1310C>T (p.Pro437Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059985G>CCA404775147IL12RB1c.1892C>G (p.Pro631Arg)
c.2012C>G (p.Pro671Arg)
c.2045C>G (p.Pro682Arg)
c.2033C>G (p.Pro678Arg)
c.2024C>G (p.Pro675Arg)
c.1925C>G (p.Pro642Arg)
c.1913C>G (p.Pro638Arg)
c.1310C>G (p.Pro437Arg)
19g.18059985G=CA2326165171IL12RB1c.1892C= (p.Pro631=)
c.2012C= (p.Pro671=)
c.2045C= (p.Pro682=)
c.2033C= (p.Pro678=)
c.2024C= (p.Pro675=)
c.1925C= (p.Pro642=)
c.1913C= (p.Pro638=)
c.1310C= (p.Pro437=)
19g.18059985G>TCA9304656IL12RB1c.1892C>A (p.Pro631His)
c.2012C>A (p.Pro671His)
c.2045C>A (p.Pro682His)
c.2033C>A (p.Pro678His)
c.2024C>A (p.Pro675His)
c.1925C>A (p.Pro642His)
c.1913C>A (p.Pro638His)
c.1310C>A (p.Pro437His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059986G>ACA404775151IL12RB1c.1891C>T (p.Pro631Ser)
c.2011C>T (p.Pro671Ser)
c.2044C>T (p.Pro682Ser)
c.2032C>T (p.Pro678Ser)
c.2023C>T (p.Pro675Ser)
c.1924C>T (p.Pro642Ser)
c.1912C>T (p.Pro638Ser)
c.1309C>T (p.Pro437Ser)
19g.18059986G>CCA404775153IL12RB1c.1891C>G (p.Pro631Ala)
c.2011C>G (p.Pro671Ala)
c.2044C>G (p.Pro682Ala)
c.2032C>G (p.Pro678Ala)
c.2023C>G (p.Pro675Ala)
c.1924C>G (p.Pro642Ala)
c.1912C>G (p.Pro638Ala)
c.1309C>G (p.Pro437Ala)
19g.18059986G>TCA404775155IL12RB1c.1891C>A (p.Pro631Thr)
c.2011C>A (p.Pro671Thr)
c.2044C>A (p.Pro682Thr)
c.2032C>A (p.Pro678Thr)
c.2023C>A (p.Pro675Thr)
c.1924C>A (p.Pro642Thr)
c.1912C>A (p.Pro638Thr)
c.1309C>A (p.Pro437Thr)
 gnomAD v4
19g.18059987C>ACA404775157IL12RB1c.1890G>T (p.Glu630Asp)
c.2010G>T (p.Glu670Asp)
c.2043G>T (p.Glu681Asp)
c.2031G>T (p.Glu677Asp)
c.2022G>T (p.Glu674Asp)
c.1923G>T (p.Glu641Asp)
c.1911G>T (p.Glu637Asp)
c.1308G>T (p.Glu436Asp)
19g.18059987C=CA2326165172IL12RB1c.1890G= (p.Glu630=)
c.2010G= (p.Glu670=)
c.2043G= (p.Glu681=)
c.2031G= (p.Glu677=)
c.2022G= (p.Glu674=)
c.1923G= (p.Glu641=)
c.1911G= (p.Glu637=)
c.1308G= (p.Glu436=)
19g.18059987C>GCA404775160IL12RB1c.1890G>C (p.Glu630Asp)
c.2010G>C (p.Glu670Asp)
c.2043G>C (p.Glu681Asp)
c.2031G>C (p.Glu677Asp)
c.2022G>C (p.Glu674Asp)
c.1923G>C (p.Glu641Asp)
c.1911G>C (p.Glu637Asp)
c.1308G>C (p.Glu436Asp)
19g.18059987C>TCA506026095IL12RB1c.1890G>A (p.Glu630=)
c.2010G>A (p.Glu670=)
c.2043G>A (p.Glu681=)
c.2031G>A (p.Glu677=)
c.2022G>A (p.Glu674=)
c.1923G>A (p.Glu641=)
c.1911G>A (p.Glu637=)
c.1308G>A (p.Glu436=)
 dbSNP gnomAD v3 gnomAD v4
19g.18059988T>ACA404775162IL12RB1c.1889A>T (p.Glu630Val)
c.2009A>T (p.Glu670Val)
c.2042A>T (p.Glu681Val)
c.2030A>T (p.Glu677Val)
c.2021A>T (p.Glu674Val)
c.1922A>T (p.Glu641Val)
c.1910A>T (p.Glu637Val)
c.1307A>T (p.Glu436Val)
19g.18059988T>CCA404775164IL12RB1c.1889A>G (p.Glu630Gly)
c.2009A>G (p.Glu670Gly)
c.2042A>G (p.Glu681Gly)
c.2030A>G (p.Glu677Gly)
c.2021A>G (p.Glu674Gly)
c.1922A>G (p.Glu641Gly)
c.1910A>G (p.Glu637Gly)
c.1307A>G (p.Glu436Gly)
 gnomAD v4
19g.18059988T>GCA404775165IL12RB1c.1889A>C (p.Glu630Ala)
c.2009A>C (p.Glu670Ala)
c.2042A>C (p.Glu681Ala)
c.2030A>C (p.Glu677Ala)
c.2021A>C (p.Glu674Ala)
c.1922A>C (p.Glu641Ala)
c.1910A>C (p.Glu637Ala)
c.1307A>C (p.Glu436Ala)
19g.18059988_18059990delinsTCACA2326165173IL12RB1c.1887_1889delinsTGA (p.Thr629=)
c.2007_2009delinsTGA (p.Thr669=)
c.2040_2042delinsTGA (p.Thr680=)
c.2028_2030delinsTGA (p.Thr676=)
c.2019_2021delinsTGA (p.Thr673=)
c.1920_1922delinsTGA (p.Thr640=)
c.1908_1910delinsTGA (p.Thr636=)
c.1305_1307delinsTGA (p.Thr435=)
19g.18059989delCA2735823728IL12RB1c.1888del (p.Glu630SerfsTer?)
c.2008del (p.Glu670SerfsTer?)
c.2041del (p.Glu681SerfsTer?)
c.2029del (p.Glu677SerfsTer?)
c.2020del (p.Glu674SerfsTer?)
c.1921del (p.Glu641SerfsTer?)
c.1909del (p.Glu637SerfsTer?)
c.1306del (p.Glu436SerfsTer?)
 dbSNP
19g.18059989C>ACA404775168IL12RB1c.1888G>T (p.Glu630Ter)
c.2008G>T (p.Glu670Ter)
c.2041G>T (p.Glu681Ter)
c.2029G>T (p.Glu677Ter)
c.2020G>T (p.Glu674Ter)
c.1921G>T (p.Glu641Ter)
c.1909G>T (p.Glu637Ter)
c.1306G>T (p.Glu436Ter)
19g.18059989C>GCA404775170IL12RB1c.1888G>C (p.Glu630Gln)
c.2008G>C (p.Glu670Gln)
c.2041G>C (p.Glu681Gln)
c.2029G>C (p.Glu677Gln)
c.2020G>C (p.Glu674Gln)
c.1921G>C (p.Glu641Gln)
c.1909G>C (p.Glu637Gln)
c.1306G>C (p.Glu436Gln)
 gnomAD v4
19g.18059989C>TCA404775171IL12RB1c.1888G>A (p.Glu630Lys)
c.2008G>A (p.Glu670Lys)
c.2041G>A (p.Glu681Lys)
c.2029G>A (p.Glu677Lys)
c.2020G>A (p.Glu674Lys)
c.1921G>A (p.Glu641Lys)
c.1909G>A (p.Glu637Lys)
c.1306G>A (p.Glu436Lys)
 gnomAD v4
19g.18059989_18059990delCA2326165174IL12RB1c.1887_1888del (p.Glu630AlafsTer9)
c.2007_2008del (p.Glu670AlafsTer9)
c.2040_2041del (p.Glu681AlafsTer9)
c.2028_2029del (p.Glu677AlafsTer9)
c.2019_2020del (p.Glu674AlafsTer9)
c.1920_1921del (p.Glu641AlafsTer9)
c.1908_1909del (p.Glu637AlafsTer9)
c.1305_1306del (p.Glu436AlafsTer9)
 dbSNP
19g.18059990A=CA2326165175IL12RB1c.1887T= (p.Thr629=)
c.2007T= (p.Thr669=)
c.2040T= (p.Thr680=)
c.2028T= (p.Thr676=)
c.2019T= (p.Thr673=)
c.1920T= (p.Thr640=)
c.1908T= (p.Thr636=)
c.1305T= (p.Thr435=)
19g.18059990A>CCA506026104IL12RB1c.1887T>G (p.Thr629=)
c.2007T>G (p.Thr669=)
c.2040T>G (p.Thr680=)
c.2028T>G (p.Thr676=)
c.2019T>G (p.Thr673=)
c.1920T>G (p.Thr640=)
c.1908T>G (p.Thr636=)
c.1305T>G (p.Thr435=)
19g.18059990A>GCA9304658IL12RB1c.1887T>C (p.Thr629=)
c.2007T>C (p.Thr669=)
c.2040T>C (p.Thr680=)
c.2028T>C (p.Thr676=)
c.2019T>C (p.Thr673=)
c.1920T>C (p.Thr640=)
c.1908T>C (p.Thr636=)
c.1305T>C (p.Thr435=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059990A>TCA506026106IL12RB1c.1887T>A (p.Thr629=)
c.2007T>A (p.Thr669=)
c.2040T>A (p.Thr680=)
c.2028T>A (p.Thr676=)
c.2019T>A (p.Thr673=)
c.1920T>A (p.Thr640=)
c.1908T>A (p.Thr636=)
c.1305T>A (p.Thr435=)
19g.18059991G>ACA404775175IL12RB1c.1886C>T (p.Thr629Ile)
c.2006C>T (p.Thr669Ile)
c.2039C>T (p.Thr680Ile)
c.2027C>T (p.Thr676Ile)
c.2018C>T (p.Thr673Ile)
c.1919C>T (p.Thr640Ile)
c.1907C>T (p.Thr636Ile)
c.1304C>T (p.Thr435Ile)
 gnomAD v4
19g.18059991G>CCA404775179IL12RB1c.1886C>G (p.Thr629Ser)
c.2006C>G (p.Thr669Ser)
c.2039C>G (p.Thr680Ser)
c.2027C>G (p.Thr676Ser)
c.2018C>G (p.Thr673Ser)
c.1919C>G (p.Thr640Ser)
c.1907C>G (p.Thr636Ser)
c.1304C>G (p.Thr435Ser)
19g.18059991G>TCA404775177IL12RB1c.1886C>A (p.Thr629Asn)
c.2006C>A (p.Thr669Asn)
c.2039C>A (p.Thr680Asn)
c.2027C>A (p.Thr676Asn)
c.2018C>A (p.Thr673Asn)
c.1919C>A (p.Thr640Asn)
c.1907C>A (p.Thr636Asn)
c.1304C>A (p.Thr435Asn)
 gnomAD v4
19g.18059992T>ACA404775181IL12RB1c.1885A>T (p.Thr629Ser)
c.2005A>T (p.Thr669Ser)
c.2038A>T (p.Thr680Ser)
c.2026A>T (p.Thr676Ser)
c.2017A>T (p.Thr673Ser)
c.1918A>T (p.Thr640Ser)
c.1906A>T (p.Thr636Ser)
c.1303A>T (p.Thr435Ser)
19g.18059992T>CCA404775183IL12RB1c.1885A>G (p.Thr629Ala)
c.2005A>G (p.Thr669Ala)
c.2038A>G (p.Thr680Ala)
c.2026A>G (p.Thr676Ala)
c.2017A>G (p.Thr673Ala)
c.1918A>G (p.Thr640Ala)
c.1906A>G (p.Thr636Ala)
c.1303A>G (p.Thr435Ala)
 gnomAD v4
19g.18059992T>GCA404775185IL12RB1c.1885A>C (p.Thr629Pro)
c.2005A>C (p.Thr669Pro)
c.2038A>C (p.Thr680Pro)
c.2026A>C (p.Thr676Pro)
c.2017A>C (p.Thr673Pro)
c.1918A>C (p.Thr640Pro)
c.1906A>C (p.Thr636Pro)
c.1303A>C (p.Thr435Pro)
19g.18059993C>ACA404775187IL12RB1c.1884G>T (p.Arg628Ser)
c.2004G>T (p.Arg668Ser)
c.2037G>T (p.Arg679Ser)
c.2025G>T (p.Arg675Ser)
c.2016G>T (p.Arg672Ser)
c.1917G>T (p.Arg639Ser)
c.1905G>T (p.Arg635Ser)
c.1302G>T (p.Arg434Ser)
19g.18059993C=CA2326165176IL12RB1c.1884G= (p.Arg628=)
c.2004G= (p.Arg668=)
c.2037G= (p.Arg679=)
c.2025G= (p.Arg675=)
c.2016G= (p.Arg672=)
c.1917G= (p.Arg639=)
c.1905G= (p.Arg635=)
c.1302G= (p.Arg434=)
19g.18059993C>GCA404775189IL12RB1c.1884G>C (p.Arg628Ser)
c.2004G>C (p.Arg668Ser)
c.2037G>C (p.Arg679Ser)
c.2025G>C (p.Arg675Ser)
c.2016G>C (p.Arg672Ser)
c.1917G>C (p.Arg639Ser)
c.1905G>C (p.Arg635Ser)
c.1302G>C (p.Arg434Ser)
19g.18059993C>TCA506026119IL12RB1c.1884G>A (p.Arg628=)
c.2004G>A (p.Arg668=)
c.2037G>A (p.Arg679=)
c.2025G>A (p.Arg675=)
c.2016G>A (p.Arg672=)
c.1917G>A (p.Arg639=)
c.1905G>A (p.Arg635=)
c.1302G>A (p.Arg434=)
 dbSNP gnomAD v2
19g.18059994C>ACA404775191IL12RB1c.1883G>T (p.Arg628Met)
c.2003G>T (p.Arg668Met)
c.2036G>T (p.Arg679Met)
c.2024G>T (p.Arg675Met)
c.2015G>T (p.Arg672Met)
c.1916G>T (p.Arg639Met)
c.1904G>T (p.Arg635Met)
c.1301G>T (p.Arg434Met)
19g.18059994C=CA2326165177IL12RB1c.1883G= (p.Arg628=)
c.2003G= (p.Arg668=)
c.2036G= (p.Arg679=)
c.2024G= (p.Arg675=)
c.2015G= (p.Arg672=)
c.1916G= (p.Arg639=)
c.1904G= (p.Arg635=)
c.1301G= (p.Arg434=)
19g.18059994C>GCA404775193IL12RB1c.1883G>C (p.Arg628Thr)
c.2003G>C (p.Arg668Thr)
c.2036G>C (p.Arg679Thr)
c.2024G>C (p.Arg675Thr)
c.2015G>C (p.Arg672Thr)
c.1916G>C (p.Arg639Thr)
c.1904G>C (p.Arg635Thr)
c.1301G>C (p.Arg434Thr)
19g.18059994C>TCA9304659IL12RB1c.1883G>A (p.Arg628Lys)
c.2003G>A (p.Arg668Lys)
c.2036G>A (p.Arg679Lys)
c.2024G>A (p.Arg675Lys)
c.2015G>A (p.Arg672Lys)
c.1916G>A (p.Arg639Lys)
c.1904G>A (p.Arg635Lys)
c.1301G>A (p.Arg434Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched