Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.159320318T>ACA362032249IL12Bc.55A>T (p.Ile19Phe)
c.*180A>T (n.*180A>T)
c.685A>T (p.Ile229Phe)
dbSNP gnomAD v2 gnomAD v4
5g.159320318T>CCA362032251IL12Bc.55A>G (p.Ile19Val)
c.*180A>G (n.*180A>G)
c.685A>G (p.Ile229Val)
5g.159320318T>GCA362032244IL12Bc.55A>C (p.Ile19Leu)
c.*180A>C (n.*180A>C)
c.685A>C (p.Ile229Leu)
5g.159320318T=CA1595017257IL12Bc.55A= (p.Ile19=)
c.*180A= (n.*180A=)
c.685A= (p.Ile229=)
5g.159320319G>ACA447510758IL12Bc.54C>T (p.Phe18=)
c.*179C>T (n.*179C>T)
c.684C>T (p.Phe228=)
COSMIC COSMIC
5g.159320319G>CCA362032253IL12Bc.54C>G (p.Phe18Leu)
c.*179C>G (n.*179C>G)
c.684C>G (p.Phe228Leu)
5g.159320319G>TCA362032256IL12Bc.54C>A (p.Phe18Leu)
c.*179C>A (n.*179C>A)
c.684C>A (p.Phe228Leu)
5g.159320320A>CCA362032258IL12Bc.53T>G (p.Phe18Cys)
c.*178T>G (n.*178T>G)
c.683T>G (p.Phe228Cys)
5g.159320320A>GCA362032260IL12Bc.53T>C (p.Phe18Ser)
c.*178T>C (n.*178T>C)
c.683T>C (p.Phe228Ser)
5g.159320320A>TCA362032262IL12Bc.53T>A (p.Phe18Tyr)
c.*178T>A (n.*178T>A)
c.683T>A (p.Phe228Tyr)
5g.159320321A>CCA362032272IL12Bc.52T>G (p.Phe18Val)
c.*177T>G (n.*177T>G)
c.682T>G (p.Phe228Val)
5g.159320321A>GCA362032267IL12Bc.52T>C (p.Phe18Leu)
c.*177T>C (n.*177T>C)
c.682T>C (p.Phe228Leu)
5g.159320321A>TCA362032270IL12Bc.52T>A (p.Phe18Ile)
c.*177T>A (n.*177T>A)
c.682T>A (p.Phe228Ile)
gnomAD v4
5g.159320322G>ACA447510765IL12Bc.51C>T (p.Phe17=)
c.*176C>T (n.*176C>T)
c.681C>T (p.Phe227=)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
5g.159320322G>CCA362032276IL12Bc.51C>G (p.Phe17Leu)
c.*176C>G (n.*176C>G)
c.681C>G (p.Phe227Leu)
5g.159320322G>TCA362032279IL12Bc.51C>A (p.Phe17Leu)
c.*176C>A (n.*176C>A)
c.681C>A (p.Phe227Leu)
5g.159320323A>CCA362032286IL12Bc.50T>G (p.Phe17Cys)
c.*175T>G (n.*175T>G)
c.680T>G (p.Phe227Cys)
5g.159320323A>GCA362032287IL12Bc.50T>C (p.Phe17Ser)
c.*175T>C (n.*175T>C)
c.680T>C (p.Phe227Ser)
5g.159320323A>TCA362032289IL12Bc.50T>A (p.Phe17Tyr)
c.*175T>A (n.*175T>A)
c.680T>A (p.Phe227Tyr)
5g.159320324A>CCA362032298IL12Bc.49T>G (p.Phe17Val)
c.*174T>G (n.*174T>G)
c.679T>G (p.Phe227Val)
5g.159320324A>GCA362032292IL12Bc.49T>C (p.Phe17Leu)
c.*174T>C (n.*174T>C)
c.679T>C (p.Phe227Leu)
5g.159320324A>TCA362032295IL12Bc.49T>A (p.Phe17Ile)
c.*174T>A (n.*174T>A)
c.679T>A (p.Phe227Ile)
5g.159320325G>ACA447510773IL12Bc.48C>T (p.Ser16=)
c.*173C>T (n.*173C>T)
c.678C>T (p.Ser226=)
gnomAD v4
5g.159320325G>CCA3538747IL12Bc.48C>G (p.Ser16Arg)
c.*173C>G (n.*173C>G)
c.678C>G (p.Ser226Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.159320325G=CA1595017258IL12Bc.48C= (p.Ser16=)
c.*173C= (n.*173C=)
c.678C= (p.Ser226=)
5g.159320325G>TCA362032301IL12Bc.48C>A (p.Ser16Arg)
c.*173C>A (n.*173C>A)
c.678C>A (p.Ser226Arg)
5g.159320326C>ACA362032302IL12Bc.47G>T (p.Ser16Ile)
c.*172G>T (n.*172G>T)
c.677G>T (p.Ser226Ile)
5g.159320326C=CA1595017259IL12Bc.47G= (p.Ser16=)
c.*172G= (n.*172G=)
c.677G= (p.Ser226=)
5g.159320326C>GCA362032303IL12Bc.47G>C (p.Ser16Thr)
c.*172G>C (n.*172G>C)
c.677G>C (p.Ser226Thr)
gnomAD v4
5g.159320326C>TCA3538748IL12Bc.47G>A (p.Ser16Asn)
c.*172G>A (n.*172G>A)
c.677G>A (p.Ser226Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.159320327T>ACA362032306IL12Bc.46A>T (p.Ser16Cys)
c.*171A>T (n.*171A>T)
c.676A>T (p.Ser226Cys)
5g.159320327T>CCA362032307IL12Bc.46A>G (p.Ser16Gly)
c.*171A>G (n.*171A>G)
c.676A>G (p.Ser226Gly)
5g.159320327T>GCA362032310IL12Bc.46A>C (p.Ser16Arg)
c.*171A>C (n.*171A>C)
c.676A>C (p.Ser226Arg)
5g.159320328G>ACA447510782IL12Bc.45C>T (p.Ser15=)
c.*170C>T (n.*170C>T)
c.675C>T (p.Ser225=)
gnomAD v4
5g.159320328G>CCA362032313IL12Bc.45C>G (p.Ser15Arg)
c.*170C>G (n.*170C>G)
c.675C>G (p.Ser225Arg)
5g.159320328G>TCA362032323IL12Bc.45C>A (p.Ser15Arg)
c.*170C>A (n.*170C>A)
c.675C>A (p.Ser225Arg)
5g.159320329C>ACA362032326IL12Bc.44G>T (p.Ser15Ile)
c.*169G>T (n.*169G>T)
c.674G>T (p.Ser225Ile)
ClinVar dbSNP gnomAD v4
5g.159320329C=CA1595017260IL12Bc.44G= (p.Ser15=)
c.*169G= (n.*169G=)
c.674G= (p.Ser225=)
5g.159320329C>GCA362032328IL12Bc.44G>C (p.Ser15Thr)
c.*169G>C (n.*169G>C)
c.674G>C (p.Ser225Thr)
5g.159320329C>TCA362032330IL12Bc.44G>A (p.Ser15Asn)
c.*169G>A (n.*169G>A)
c.674G>A (p.Ser225Asn)
gnomAD v4
5g.159320330T>ACA362032334IL12Bc.43A>T (p.Ser15Cys)
c.*168A>T (n.*168A>T)
c.673A>T (p.Ser225Cys)
5g.159320330T>CCA362032337IL12Bc.43A>G (p.Ser15Gly)
c.*168A>G (n.*168A>G)
c.673A>G (p.Ser225Gly)
5g.159320330T>GCA362032336IL12Bc.43A>C (p.Ser15Arg)
c.*168A>C (n.*168A>C)
c.673A>C (p.Ser225Arg)
5g.159320331G>ACA447510789IL12Bc.42C>T (p.Thr14=)
c.*167C>T (n.*167C>T)
c.672C>T (p.Thr224=)
5g.159320331G>CCA447510790IL12Bc.42C>G (p.Thr14=)
c.*167C>G (n.*167C>G)
c.672C>G (p.Thr224=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.159320331G=CA1595017261IL12Bc.42C= (p.Thr14=)
c.*167C= (n.*167C=)
c.672C= (p.Thr224=)
5g.159320331G>TCA447510792IL12Bc.42C>A (p.Thr14=)
c.*167C>A (n.*167C>A)
c.672C>A (p.Thr224=)
gnomAD v4
5g.159320332G>ACA362032340IL12Bc.41C>T (p.Thr14Ile)
c.*166C>T (n.*166C>T)
c.671C>T (p.Thr224Ile)
dbSNP gnomAD v2 gnomAD v4
5g.159320332G>CCA362032342IL12Bc.41C>G (p.Thr14Ser)
c.*166C>G (n.*166C>G)
c.671C>G (p.Thr224Ser)
5g.159320332G=CA1595017262IL12Bc.41C= (p.Thr14=)
c.*166C= (n.*166C=)
c.671C= (p.Thr224=)
5g.159320332G>TCA362032346IL12Bc.41C>A (p.Thr14Asn)
c.*166C>A (n.*166C>A)
c.671C>A (p.Thr224Asn)
5g.159320333T>ACA362032349IL12Bc.40A>T (p.Thr14Ser)
c.*165A>T (n.*165A>T)
c.670A>T (p.Thr224Ser)
5g.159320333T>CCA362032350IL12Bc.40A>G (p.Thr14Ala)
c.*165A>G (n.*165A>G)
c.670A>G (p.Thr224Ala)
5g.159320333T>GCA362032351IL12Bc.40A>C (p.Thr14Pro)
c.*165A>C (n.*165A>C)
c.670A>C (p.Thr224Pro)
5g.159320334G>ACA3538749IL12Bc.39C>T (p.Tyr13=)
c.*164C>T (n.*164C>T)
c.669C>T (p.Tyr223=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.159320334G>CCA362032355IL12Bc.39C>G (p.Tyr13Ter)
c.*164C>G (n.*164C>G)
c.669C>G (p.Tyr223Ter)
5g.159320334G=CA1595017263IL12Bc.39C= (p.Tyr13=)
c.*164C= (n.*164C=)
c.669C= (p.Tyr223=)
5g.159320334G>TCA362032358IL12Bc.39C>A (p.Tyr13Ter)
c.*164C>A (n.*164C>A)
c.669C>A (p.Tyr223Ter)
5g.159320335T>ACA362032360IL12Bc.38A>T (p.Tyr13Phe)
c.*163A>T (n.*163A>T)
c.668A>T (p.Tyr223Phe)
5g.159320335T>CCA362032362IL12Bc.38A>G (p.Tyr13Cys)
c.*163A>G (n.*163A>G)
c.668A>G (p.Tyr223Cys)
5g.159320335T>GCA362032363IL12Bc.38A>C (p.Tyr13Ser)
c.*163A>C (n.*163A>C)
c.668A>C (p.Tyr223Ser)
5g.159320336A>CCA362032369IL12Bc.37T>G (p.Tyr13Asp)
c.*162T>G (n.*162T>G)
c.667T>G (p.Tyr223Asp)
5g.159320336A>GCA362032368IL12Bc.37T>C (p.Tyr13His)
c.*162T>C (n.*162T>C)
c.667T>C (p.Tyr223His)
gnomAD v4
5g.159320336A>TCA362032365IL12Bc.37T>A (p.Tyr13Asn)
c.*162T>A (n.*162T>A)
c.667T>A (p.Tyr223Asn)
5g.159320337G>ACA447510807IL12Bc.36C>T (p.Asn12=)
c.*161C>T (n.*161C>T)
c.666C>T (p.Asn222=)
5g.159320337G>CCA362032372IL12Bc.36C>G (p.Asn12Lys)
c.*161C>G (n.*161C>G)
c.666C>G (p.Asn222Lys)
5g.159320337G>TCA362032375IL12Bc.36C>A (p.Asn12Lys)
c.*161C>A (n.*161C>A)
c.666C>A (p.Asn222Lys)
5g.159320338T>ACA362032380IL12Bc.35A>T (p.Asn12Ile)
c.*160A>T (n.*160A>T)
c.665A>T (p.Asn222Ile)
5g.159320338T>CCA362032382IL12Bc.35A>G (p.Asn12Ser)
c.*160A>G (n.*160A>G)
c.665A>G (p.Asn222Ser)
5g.159320338T>GCA362032385IL12Bc.35A>C (p.Asn12Thr)
c.*160A>C (n.*160A>C)
c.665A>C (p.Asn222Thr)
5g.159320339T>ACA362032388IL12Bc.34A>T (p.Asn12Tyr)
c.*159A>T (n.*159A>T)
c.664A>T (p.Asn222Tyr)
5g.159320339T>CCA362032391IL12Bc.34A>G (p.Asn12Asp)
c.*159A>G (n.*159A>G)
c.664A>G (p.Asn222Asp)
5g.159320339T>GCA362032392IL12Bc.34A>C (p.Asn12His)
c.*159A>C (n.*159A>C)
c.664A>C (p.Asn222His)
5g.159320340T>ACA362032396IL12Bc.33A>T (p.Glu11Asp)
c.*158A>T (n.*158A>T)
c.663A>T (p.Glu221Asp)
5g.159320340T>CCA447510816IL12Bc.33A>G (p.Glu11=)
c.*158A>G (n.*158A>G)
c.663A>G (p.Glu221=)
5g.159320340T>GCA362032398IL12Bc.33A>C (p.Glu11Asp)
c.*158A>C (n.*158A>C)
c.663A>C (p.Glu221Asp)
5g.159320340_159320354delinsAATGCAGACGTTATCGACA2695205605IL12Bc.19_33delinsTCGATAACGTCTGCATT (p.Lys7SerfsTer28)
c.*144_*158delinsTCGATAACGTCTGCATT (n.*144_*158delinsTCGATAACGTCTGCATT)
c.649_663delinsTCGATAACGTCTGCATT (p.Lys217SerfsTer28)
5g.159320341T>ACA362032401IL12Bc.32A>T (p.Glu11Val)
c.*157A>T (n.*157A>T)
c.662A>T (p.Glu221Val)
5g.159320341T>CCA362032402IL12Bc.32A>G (p.Glu11Gly)
c.*157A>G (n.*157A>G)
c.662A>G (p.Glu221Gly)
5g.159320341T>GCA362032403IL12Bc.32A>C (p.Glu11Ala)
c.*157A>C (n.*157A>C)
c.662A>C (p.Glu221Ala)
5g.159320342C>ACA362032408IL12Bc.31G>T (p.Glu11Ter)
c.*156G>T (n.*156G>T)
c.661G>T (p.Glu221Ter)
5g.159320342C>GCA362032409IL12Bc.31G>C (p.Glu11Gln)
c.*156G>C (n.*156G>C)
c.661G>C (p.Glu221Gln)
5g.159320342C>TCA362032405IL12Bc.31G>A (p.Glu11Lys)
c.*156G>A (n.*156G>A)
c.661G>A (p.Glu221Lys)
5g.159320343A=CA1595017264IL12Bc.30T= (p.Tyr10=)
c.*155T= (n.*155T=)
c.660T= (p.Tyr220=)
5g.159320343A>CCA362032412IL12Bc.30T>G (p.Tyr10Ter)
c.*155T>G (n.*155T>G)
c.660T>G (p.Tyr220Ter)
5g.159320343A>GCA447510824IL12Bc.30T>C (p.Tyr10=)
c.*155T>C (n.*155T>C)
c.660T>C (p.Tyr220=)
dbSNP
5g.159320343A>TCA3538750IL12Bc.30T>A (p.Tyr10Ter)
c.*155T>A (n.*155T>A)
c.660T>A (p.Tyr220Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.159320343_159320353delinsCCATCTGGCA2695205606IL12Bc.20_30delinsCCAGATGG (p.Lys7_Tyr10delinsThrArgTrp)
c.*145_*155delinsCCAGATGG (n.*145_*155delinsCCAGATGG)
c.650_660delinsCCAGATGG (p.Lys217_Tyr220delinsThrArgTrp)
5g.159320344T>ACA362032422IL12Bc.29A>T (p.Tyr10Phe)
c.*154A>T (n.*154A>T)
c.659A>T (p.Tyr220Phe)
5g.159320344T>CCA362032415IL12Bc.29A>G (p.Tyr10Cys)
c.*154A>G (n.*154A>G)
c.659A>G (p.Tyr220Cys)
gnomAD v4
5g.159320344T>GCA362032419IL12Bc.29A>C (p.Tyr10Ser)
c.*154A>C (n.*154A>C)
c.659A>C (p.Tyr220Ser)
5g.159320345A>CCA362032424IL12Bc.28T>G (p.Tyr10Asp)
c.*153T>G (n.*153T>G)
c.658T>G (p.Tyr220Asp)
5g.159320345A>GCA362032426IL12Bc.28T>C (p.Tyr10His)
c.*153T>C (n.*153T>C)
c.658T>C (p.Tyr220His)
5g.159320345A>TCA362032428IL12Bc.28T>A (p.Tyr10Asn)
c.*153T>A (n.*153T>A)
c.658T>A (p.Tyr220Asn)
5g.159320346C>ACA362032430IL12Bc.27G>T (p.Lys9Asn)
c.*152G>T (n.*152G>T)
c.657G>T (p.Lys219Asn)
5g.159320346C>GCA362032431IL12Bc.27G>C (p.Lys9Asn)
c.*152G>C (n.*152G>C)
c.657G>C (p.Lys219Asn)
5g.159320346C>TCA447510836IL12Bc.27G>A (p.Lys9=)
c.*152G>A (n.*152G>A)
c.657G>A (p.Lys219=)
5g.159320347T>ACA362032434IL12Bc.26A>T (p.Lys9Met)
c.*151A>T (n.*151A>T)
c.656A>T (p.Lys219Met)
gnomAD v4
5g.159320347T>CCA362032436IL12Bc.26A>G (p.Lys9Arg)
c.*151A>G (n.*151A>G)
c.656A>G (p.Lys219Arg)
gnomAD v4
5g.159320347T>GCA362032437IL12Bc.26A>C (p.Lys9Thr)
c.*151A>C (n.*151A>C)
c.656A>C (p.Lys219Thr)
5g.159320348T>ACA362032443IL12Bc.25A>T (p.Lys9Ter)
c.*150A>T (n.*150A>T)
c.655A>T (p.Lys219Ter)
5g.159320348T>CCA362032442IL12Bc.25A>G (p.Lys9Glu)
c.*150A>G (n.*150A>G)
c.655A>G (p.Lys219Glu)
5g.159320348T>GCA362032440IL12Bc.25A>C (p.Lys9Gln)
c.*150A>C (n.*150A>C)
c.655A>C (p.Lys219Gln)
5g.159320349G>ACA447510842IL12Bc.24C>T (p.Leu8=)
c.*149C>T (n.*149C>T)
c.654C>T (p.Leu218=)
5g.159320349G>CCA447510843IL12Bc.24C>G (p.Leu8=)
c.*149C>G (n.*149C>G)
c.654C>G (p.Leu218=)
5g.159320349G>TCA447510845IL12Bc.24C>A (p.Leu8=)
c.*149C>A (n.*149C>A)
c.654C>A (p.Leu218=)
5g.159320350A>CCA362032446IL12Bc.23T>G (p.Leu8Arg)
c.*148T>G (n.*148T>G)
c.653T>G (p.Leu218Arg)
5g.159320350A>GCA362032447IL12Bc.23T>C (p.Leu8Pro)
c.*148T>C (n.*148T>C)
c.653T>C (p.Leu218Pro)
5g.159320350A>TCA362032449IL12Bc.23T>A (p.Leu8His)
c.*148T>A (n.*148T>A)
c.653T>A (p.Leu218His)
5g.159320351G>ACA362032452IL12Bc.22C>T (p.Leu8Phe)
c.*147C>T (n.*147C>T)
c.652C>T (p.Leu218Phe)
5g.159320351G>CCA362032453IL12Bc.22C>G (p.Leu8Val)
c.*147C>G (n.*147C>G)
c.652C>G (p.Leu218Val)
5g.159320351G>TCA362032455IL12Bc.22C>A (p.Leu8Ile)
c.*147C>A (n.*147C>A)
c.652C>A (p.Leu218Ile)
5g.159320352C>ACA362032458IL12Bc.21G>T (p.Lys7Asn)
c.*146G>T (n.*146G>T)
c.651G>T (p.Lys217Asn)
5g.159320352C=CA1595017265IL12Bc.21G= (p.Lys7=)
c.*146G= (n.*146G=)
c.651G= (p.Lys217=)
5g.159320352C>GCA362032459IL12Bc.21G>C (p.Lys7Asn)
c.*146G>C (n.*146G>C)
c.651G>C (p.Lys217Asn)
5g.159320352C>TCA3538751IL12Bc.21G>A (p.Lys7=)
c.*146G>A (n.*146G>A)
c.651G>A (p.Lys217=)
dbSNP ExAC gnomAD v2
5g.159320353T>ACA362032462IL12Bc.20A>T (p.Lys7Met)
c.*145A>T (n.*145A>T)
c.650A>T (p.Lys217Met)
5g.159320353T>CCA362032463IL12Bc.20A>G (p.Lys7Arg)
c.*145A>G (n.*145A>G)
c.650A>G (p.Lys217Arg)
gnomAD v4
5g.159320353T>GCA362032466IL12Bc.20A>C (p.Lys7Thr)
c.*145A>C (n.*145A>C)
c.650A>C (p.Lys217Thr)
5g.159320354T>ACA362032469IL12Bc.19A>T (p.Lys7Ter)
c.*144A>T (n.*144A>T)
c.649A>T (p.Lys217Ter)
5g.159320354T>CCA362032471IL12Bc.19A>G (p.Lys7Glu)
c.*144A>G (n.*144A>G)
c.649A>G (p.Lys217Glu)
5g.159320354T>GCA362032468IL12Bc.19A>C (p.Lys7Gln)
c.*144A>C (n.*144A>C)
c.649A>C (p.Lys217Gln)
5g.159320355G>ACA447510860IL12Bc.18C>T (p.His6=)
c.*143C>T (n.*143C>T)
c.648C>T (p.His216=)
5g.159320355G>CCA362032472IL12Bc.18C>G (p.His6Gln)
c.*143C>G (n.*143C>G)
c.648C>G (p.His216Gln)
5g.159320355G>TCA362032474IL12Bc.18C>A (p.His6Gln)
c.*143C>A (n.*143C>A)
c.648C>A (p.His216Gln)
5g.159320356T>ACA362032476IL12Bc.17A>T (p.His6Leu)
c.*142A>T (n.*142A>T)
c.647A>T (p.His216Leu)
gnomAD v3 gnomAD v4
5g.159320356T>CCA362032477IL12Bc.17A>G (p.His6Arg)
c.*142A>G (n.*142A>G)
c.647A>G (p.His216Arg)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.159320356T>GCA362032479IL12Bc.17A>C (p.His6Pro)
c.*142A>C (n.*142A>C)
c.647A>C (p.His216Pro)
5g.159320356T=CA1595017266IL12Bc.17A= (p.His6=)
c.*142A= (n.*142A=)
c.647A= (p.His216=)
5g.159320357G>ACA362032481IL12Bc.16C>T (p.His6Tyr)
c.*141C>T (n.*141C>T)
c.646C>T (p.His216Tyr)
5g.159320357G>CCA362032482IL12Bc.16C>G (p.His6Asp)
c.*141C>G (n.*141C>G)
c.646C>G (p.His216Asp)
5g.159320357G>TCA362032484IL12Bc.16C>A (p.His6Asn)
c.*141C>A (n.*141C>A)
c.646C>A (p.His216Asn)
5g.159320358A>CCA447510871IL12Bc.15T>G (p.Val5=)
c.*140T>G (n.*140T>G)
c.645T>G (p.Val215=)
5g.159320358A>GCA447510869IL12Bc.15T>C (p.Val5=)
c.*140T>C (n.*140T>C)
c.645T>C (p.Val215=)
5g.159320358A>TCA447510867IL12Bc.15T>A (p.Val5=)
c.*140T>A (n.*140T>A)
c.645T>A (p.Val215=)
5g.159320359A>CCA362032486IL12Bc.14T>G (p.Val5Gly)
c.*139T>G (n.*139T>G)
c.644T>G (p.Val215Gly)
5g.159320359A>GCA362032488IL12Bc.14T>C (p.Val5Ala)
c.*139T>C (n.*139T>C)
c.644T>C (p.Val215Ala)
gnomAD v4
5g.159320359A>TCA362032489IL12Bc.14T>A (p.Val5Asp)
c.*139T>A (n.*139T>A)
c.644T>A (p.Val215Asp)
5g.159320360C>ACA362032492IL12Bc.13G>T (p.Val5Phe)
c.*138G>T (n.*138G>T)
c.643G>T (p.Val215Phe)
COSMIC COSMIC
5g.159320360C=CA1595017267IL12Bc.13G= (p.Val5=)
c.*138G= (n.*138G=)
c.643G= (p.Val215=)
5g.159320360C>GCA362032494IL12Bc.13G>C (p.Val5Leu)
c.*138G>C (n.*138G>C)
c.643G>C (p.Val215Leu)
5g.159320360C>TCA3538752IL12Bc.13G>A (p.Val5Ile)
c.*138G>A (n.*138G>A)
c.643G>A (p.Val215Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.159320361G>ACA3538753IL12Bc.12C>T (p.Ala4=)
c.*137C>T (n.*137C>T)
c.642C>T (p.Ala214=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.159320361G>CCA447510880IL12Bc.12C>G (p.Ala4=)
c.*137C>G (n.*137C>G)
c.642C>G (p.Ala214=)
5g.159320361G=CA1595017268IL12Bc.12C= (p.Ala4=)
c.*137C= (n.*137C=)
c.642C= (p.Ala214=)
5g.159320361G>TCA447510879IL12Bc.12C>A (p.Ala4=)
c.*137C>A (n.*137C>A)
c.642C>A (p.Ala214=)
5g.159320362G>ACA3538754IL12Bc.11C>T (p.Ala4Val)
c.*136C>T (n.*136C>T)
c.641C>T (p.Ala214Val)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.159320362G>CCA362032498IL12Bc.11C>G (p.Ala4Gly)
c.*136C>G (n.*136C>G)
c.641C>G (p.Ala214Gly)
5g.159320362G=CA1595017269IL12Bc.11C= (p.Ala4=)
c.*136C= (n.*136C=)
c.641C= (p.Ala214=)
5g.159320362G>TCA362032501IL12Bc.11C>A (p.Ala4Asp)
c.*136C>A (n.*136C>A)
c.641C>A (p.Ala214Asp)
5g.159320363C>ACA362032503IL12Bc.10G>T (p.Ala4Ser)
c.*135G>T (n.*135G>T)
c.640G>T (p.Ala214Ser)
5g.159320363C>GCA362032505IL12Bc.10G>C (p.Ala4Pro)
c.*135G>C (n.*135G>C)
c.640G>C (p.Ala214Pro)
5g.159320363C>TCA362032507IL12Bc.10G>A (p.Ala4Thr)
c.*135G>A (n.*135G>A)
c.640G>A (p.Ala214Thr)
5g.159320364A=CA1595017270IL12Bc.9T= (p.Asp3=)
c.*134T= (n.*134T=)
c.639T= (p.Asp213=)
5g.159320364A>CCA362032509IL12Bc.9T>G (p.Asp3Glu)
c.*134T>G (n.*134T>G)
c.639T>G (p.Asp213Glu)
5g.159320364A>GCA447510889IL12Bc.9T>C (p.Asp3=)
c.*134T>C (n.*134T>C)
c.639T>C (p.Asp213=)
dbSNP gnomAD v3 gnomAD v4
5g.159320364A>TCA362032511IL12Bc.9T>A (p.Asp3Glu)
c.*134T>A (n.*134T>A)
c.639T>A (p.Asp213Glu)
gnomAD v3 gnomAD v4
5g.159320365T>ACA362032513IL12Bc.8A>T (p.Asp3Val)
c.*133A>T (n.*133A>T)
c.638A>T (p.Asp213Val)
5g.159320365T>CCA362032514IL12Bc.8A>G (p.Asp3Gly)
c.*133A>G (n.*133A>G)
c.638A>G (p.Asp213Gly)
5g.159320365T>GCA362032516IL12Bc.8A>C (p.Asp3Ala)
c.*133A>C (n.*133A>C)
c.638A>C (p.Asp213Ala)
5g.159320366C>ACA362032518IL12Bc.7G>T (p.Asp3Tyr)
c.*132G>T (n.*132G>T)
c.637G>T (p.Asp213Tyr)
5g.159320366C=CA1595017271IL12Bc.7G= (p.Asp3=)
c.*132G= (n.*132G=)
c.637G= (p.Asp213=)
5g.159320366C>GCA362032519IL12Bc.7G>C (p.Asp3His)
c.*132G>C (n.*132G>C)
c.637G>C (p.Asp213His)
5g.159320366C>TCA362032520IL12Bc.7G>A (p.Asp3Asn)
c.*132G>A (n.*132G>A)
c.637G>A (p.Asp213Asn)
dbSNP
5g.159320367C>ACA447510896IL12Bc.6G>T (p.Val2=)
c.*131G>T (n.*131G>T)
c.636G>T (p.Val212=)
5g.159320367C>GCA447510897IL12Bc.6G>C (p.Val2=)
c.*131G>C (n.*131G>C)
c.636G>C (p.Val212=)
5g.159320367C>TCA447510899IL12Bc.6G>A (p.Val2=)
c.*131G>A (n.*131G>A)
c.636G>A (p.Val212=)
5g.159320368A>CCA362032528IL12Bc.5T>G (p.Val2Gly)
c.*130T>G (n.*130T>G)
c.635T>G (p.Val212Gly)
5g.159320368A>GCA362032530IL12Bc.5T>C (p.Val2Ala)
c.*130T>C (n.*130T>C)
c.635T>C (p.Val212Ala)
5g.159320368A>TCA362032522IL12Bc.5T>A (p.Val2Glu)
c.*130T>A (n.*130T>A)
c.635T>A (p.Val212Glu)
5g.159320369C>ACA362032534IL12Bc.4G>T (p.Val2Leu)
c.*129G>T (n.*129G>T)
c.634G>T (p.Val212Leu)
5g.159320369C=CA1595017272IL12Bc.4G= (p.Val2=)
c.*129G= (n.*129G=)
c.634G= (p.Val212=)
5g.159320369C>GCA362032532IL12Bc.4G>C (p.Val2Leu)
c.*129G>C (n.*129G>C)
c.634G>C (p.Val212Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.159320369C>TCA362032535IL12Bc.4G>A (p.Val2Met)
c.*129G>A (n.*129G>A)
c.634G>A (p.Val212Met)
dbSNP gnomAD v4 COSMIC COSMIC
5g.159320370C>ACA362032536IL12Bc.3G>T (p.Met1Ile)
c.*128G>T (n.*128G>T)
c.633G>T (p.Met211Ile)
5g.159320370C>GCA362032537IL12Bc.3G>C (p.Met1Ile)
c.*128G>C (n.*128G>C)
c.633G>C (p.Met211Ile)
5g.159320370C>TCA362032539IL12Bc.3G>A (p.Met1Ile)
c.*128G>A (n.*128G>A)
c.633G>A (p.Met211Ile)
ClinVar dbSNP gnomAD v4
5g.159320371A=CA1595017273IL12Bc.2T= (p.Met1=)
c.*127T= (n.*127T=)
c.632T= (p.Met211=)
5g.159320371A>CCA362032544IL12Bc.2T>G (p.Met1Arg)
c.*127T>G (n.*127T>G)
c.632T>G (p.Met211Arg)
5g.159320371A>GCA362032545IL12Bc.2T>C (p.Met1Thr)
c.*127T>C (n.*127T>C)
c.632T>C (p.Met211Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.159320371A>TCA362032546IL12Bc.2T>A (p.Met1Lys)
c.*127T>A (n.*127T>A)
c.632T>A (p.Met211Lys)
5g.159320372T>ACA362032549IL12Bc.1A>T (p.Met1Leu)
c.*126A>T (n.*126A>T)
c.631A>T (p.Met211Leu)
5g.159320372T>CCA362032550IL12Bc.1A>G (p.Met1Val)
c.*126A>G (n.*126A>G)
c.631A>G (p.Met211Val)
gnomAD v4
5g.159320372T>GCA362032552IL12Bc.1A>C (p.Met1Leu)
c.*126A>C (n.*126A>C)
c.631A>C (p.Met211Leu)
5g.159320373G>ACA447510914IL12Bc.-1C>T (n.-1C>T)
c.*125C>T (n.*125C>T)
c.630C>T (p.Val210=)
dbSNP gnomAD v3 gnomAD v4
5g.159320373G>CCA447510917IL12Bc.-1C>G (n.-1C>G)
c.*125C>G (n.*125C>G)
c.630C>G (p.Val210=)
5g.159320373G=CA1595017274IL12Bc.-1C= (n.-1C=)
c.*125C= (n.*125C=)
c.630C= (p.Val210=)
5g.159320373G>TCA447510918IL12Bc.-1C>A (n.-1C>A)
c.*125C>A (n.*125C>A)
c.630C>A (p.Val210=)
COSMIC COSMIC
5g.159320374A=CA1595017275IL12Bc.-2T= (n.-2T=)
c.*124T= (n.*124T=)
c.629T= (p.Val210=)
5g.159320374A>CCA362032553IL12Bc.-2T>G (n.-2T>G)
c.*124T>G (n.*124T>G)
c.629T>G (p.Val210Gly)
dbSNP gnomAD v2 gnomAD v4
5g.159320374A>GCA362032554IL12Bc.-2T>C (n.-2T>C)
c.*124T>C (n.*124T>C)
c.629T>C (p.Val210Ala)
5g.159320374A>TCA362032555IL12Bc.-2T>A (n.-2T>A)
c.*124T>A (n.*124T>A)
c.629T>A (p.Val210Asp)
5g.159320374_159320389delinsCTCTTAATGGACTCAACA2695205607IL12Bc.-17_-2delinsTTGAGTCCATTAAGAG (n.-17_-2delinsTTGAGTCCATTAAGAG)
c.*109_*124delinsTTGAGTCCATTAAGAG (n.*109_*124delinsTTGAGTCCATTAAGAG)
c.614_629delinsTTGAGTCCATTAAGAG (p.Ser205_Val210delinsIleGluSerIleLysSer)
5g.159320375C>ACA362032560IL12Bc.-3G>T (n.-3G>T)
c.*123G>T (n.*123G>T)
c.628G>T (p.Val210Phe)
5g.159320375C>GCA362032558IL12Bc.-3G>C (n.-3G>C)
c.*123G>C (n.*123G>C)
c.628G>C (p.Val210Leu)
5g.159320375C>TCA362032557IL12Bc.-3G>A (n.-3G>A)
c.*123G>A (n.*123G>A)
c.628G>A (p.Val210Ile)
COSMIC COSMIC
5g.159320376C>ACA362032562IL12Bc.-4G>T (n.-4G>T)
c.*122G>T (n.*122G>T)
c.627G>T (p.Glu209Asp)
5g.159320376C=CA1595017276IL12Bc.-4G= (n.-4G=)
c.*122G= (n.*122G=)
c.627G= (p.Glu209=)
5g.159320376C>GCA362032564IL12Bc.-4G>C (n.-4G>C)
c.*122G>C (n.*122G>C)
c.627G>C (p.Glu209Asp)
5g.159320376C>TCA129826797IL12Bc.-4G>A (n.-4G>A)
c.*122G>A (n.*122G>A)
c.627G>A (p.Glu209=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.159320377T>ACA362032566IL12Bc.-5A>T (n.-5A>T)
c.*121A>T (n.*121A>T)
c.626A>T (p.Glu209Val)
5g.159320377T>CCA362032568IL12Bc.-5A>G (n.-5A>G)
c.*121A>G (n.*121A>G)
c.626A>G (p.Glu209Gly)
5g.159320377T>GCA362032570IL12Bc.-5A>C (n.-5A>C)
c.*121A>C (n.*121A>C)
c.626A>C (p.Glu209Ala)
5g.159320378C>ACA362032572IL12Bc.-6G>T (n.-6G>T)
c.*120G>T (n.*120G>T)
c.625G>T (p.Glu209Ter)
5g.159320378C=CA1595017277IL12Bc.-6G= (n.-6G=)
c.*120G= (n.*120G=)
c.625G= (p.Glu209=)
5g.159320378C>GCA362032574IL12Bc.-6G>C (n.-6G>C)
c.*120G>C (n.*120G>C)
c.625G>C (p.Glu209Gln)
5g.159320378C>TCA362032576IL12Bc.-6G>A (n.-6G>A)
c.*120G>A (n.*120G>A)
c.625G>A (p.Glu209Lys)
dbSNP
5g.159320379A>CCA362032577IL12Bc.-7T>G (n.-7T>G)
c.*119T>G (n.*119T>G)
c.624T>G (p.Ile208Met)
gnomAD v4
5g.159320379A>GCA447510934IL12Bc.-7T>C (n.-7T>C)
c.*119T>C (n.*119T>C)
c.624T>C (p.Ile208=)
5g.159320379A>TCA447510936IL12Bc.-7T>A (n.-7T>A)
c.*119T>A (n.*119T>A)
c.624T>A (p.Ile208=)
5g.159320380A=CA1595017278IL12Bc.-8T= (n.-8T=)
c.*118T= (n.*118T=)
c.623T= (p.Ile208=)
5g.159320380A>CCA362032580IL12Bc.-8T>G (n.-8T>G)
c.*118T>G (n.*118T>G)
c.623T>G (p.Ile208Ser)
5g.159320380A>GCA3538755IL12Bc.-8T>C (n.-8T>C)
c.*118T>C (n.*118T>C)
c.623T>C (p.Ile208Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.159320380A>TCA362032585IL12Bc.-8T>A (n.-8T>A)
c.*118T>A (n.*118T>A)
c.623T>A (p.Ile208Asn)
5g.159320381T>ACA362032588IL12Bc.-9A>T (n.-9A>T)
c.*117A>T (n.*117A>T)
c.622A>T (p.Ile208Phe)
5g.159320381T>CCA3538756IL12Bc.-9A>G (n.-9A>G)
c.*117A>G (n.*117A>G)
c.622A>G (p.Ile208Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.159320381T>GCA362032587IL12Bc.-9A>C (n.-9A>C)
c.*117A>C (n.*117A>C)
c.622A>C (p.Ile208Leu)
5g.159320381T=CA1595017279IL12Bc.-9A= (n.-9A=)
c.*117A= (n.*117A=)
c.622A= (p.Ile208=)
5g.159320382G>ACA447510947IL12Bc.-10C>T (n.-10C>T)
c.*116C>T (n.*116C>T)
c.621C>T (p.Pro207=)
dbSNP gnomAD v3 gnomAD v4
5g.159320382G>CCA447510944IL12Bc.-10C>G (n.-10C>G)
c.*116C>G (n.*116C>G)
c.621C>G (p.Pro207=)
5g.159320382G=CA1595017280IL12Bc.-10C= (n.-10C=)
c.*116C= (n.*116C=)
c.621C= (p.Pro207=)
5g.159320382G>TCA447510946IL12Bc.-10C>A (n.-10C>A)
c.*116C>A (n.*116C>A)
c.621C>A (p.Pro207=)
5g.159320383G>ACA362032589IL12Bc.-11C>T (n.-11C>T)
c.*115C>T (n.*115C>T)
c.620C>T (p.Pro207Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.159320383G>CCA362032591IL12Bc.-11C>G (n.-11C>G)
c.*115C>G (n.*115C>G)
c.620C>G (p.Pro207Arg)
5g.159320383G=CA1595017281IL12Bc.-11C= (n.-11C=)
c.*115C= (n.*115C=)
c.620C= (p.Pro207=)
5g.159320383G>TCA362032592IL12Bc.-11C>A (n.-11C>A)
c.*115C>A (n.*115C>A)
c.620C>A (p.Pro207His)
5g.159320384G>ACA362032595IL12Bc.-12C>T (n.-12C>T)
c.*114C>T (n.*114C>T)
c.619C>T (p.Pro207Ser)
5g.159320384G>CCA362032598IL12Bc.-12C>G (n.-12C>G)
c.*114C>G (n.*114C>G)
c.619C>G (p.Pro207Ala)
5g.159320384G>TCA362032601IL12Bc.-12C>A (n.-12C>A)
c.*114C>A (n.*114C>A)
c.619C>A (p.Pro207Thr)
5g.159320385C>ACA447510953IL12Bc.-13G>T (n.-13G>T)
c.*113G>T (n.*113G>T)
c.618G>T (p.Leu206=)
5g.159320385C=CA1595017282IL12Bc.-13G= (n.-13G=)
c.*113G= (n.*113G=)
c.618G= (p.Leu206=)
5g.159320385C>GCA447510954IL12Bc.-13G>C (n.-13G>C)
c.*113G>C (n.*113G>C)
c.618G>C (p.Leu206=)
dbSNP
5g.159320385C>TCA447510956IL12Bc.-13G>A (n.-13G>A)
c.*113G>A (n.*113G>A)
c.618G>A (p.Leu206=)
5g.159320386A>CCA362032602IL12Bc.-14T>G (n.-14T>G)
c.*112T>G (n.*112T>G)
c.617T>G (p.Leu206Arg)
5g.159320386A>GCA362032603IL12Bc.-14T>C (n.-14T>C)
c.*112T>C (n.*112T>C)
c.617T>C (p.Leu206Pro)
5g.159320386A>TCA362032604IL12Bc.-14T>A (n.-14T>A)
c.*112T>A (n.*112T>A)
c.617T>A (p.Leu206Gln)
5g.159320387G>ACA447510962IL12Bc.-15C>T (n.-15C>T)
c.*111C>T (n.*111C>T)
c.616C>T (p.Leu206=)
5g.159320387G>CCA362032605IL12Bc.-15C>G (n.-15C>G)
c.*111C>G (n.*111C>G)
c.616C>G (p.Leu206Val)
gnomAD v4
5g.159320387G>TCA362032606IL12Bc.-15C>A (n.-15C>A)
c.*111C>A (n.*111C>A)
c.616C>A (p.Leu206Met)
5g.159320388A>CCA362032607IL12Bc.-16T>G (n.-16T>G)
c.*110T>G (n.*110T>G)
c.615T>G (p.Ser205Arg)
5g.159320388A>GCA447510963IL12Bc.-16T>C (n.-16T>C)
c.*110T>C (n.*110T>C)
c.615T>C (p.Ser205=)
5g.159320388A>TCA362032609IL12Bc.-16T>A (n.-16T>A)
c.*110T>A (n.*110T>A)
c.615T>A (p.Ser205Arg)
5g.159320389C>ACA362032613IL12Bc.-17G>T (n.-17G>T)
c.*109G>T (n.*109G>T)
c.614G>T (p.Ser205Ile)
5g.159320389C=CA1595017283IL12Bc.-17G= (n.-17G=)
c.*109G= (n.*109G=)
c.614G= (p.Ser205=)
5g.159320389C>GCA362032614IL12Bc.-17G>C (n.-17G>C)
c.*109G>C (n.*109G>C)
c.614G>C (p.Ser205Thr)
5g.159320389C>TCA3538757IL12Bc.-17G>A (n.-17G>A)
c.*109G>A (n.*109G>A)
c.614G>A (p.Ser205Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.159320392_159320393delCA2676265354IL12Bc.-18_-17del (n.-18_-17del)
c.*108_*109del (n.*108_*109del)
c.613_614del (p.Leu206AlafsTer3)
gnomAD v4
5g.159320390T>ACA362032615IL12Bc.-18A>T (n.-18A>T)
c.*108A>T (n.*108A>T)
c.613A>T (p.Ser205Cys)
5g.159320390T>CCA362032616IL12Bc.-18A>G (n.-18A>G)
c.*108A>G (n.*108A>G)
c.613A>G (p.Ser205Gly)
5g.159320390T>GCA362032618IL12Bc.-18A>C (n.-18A>C)
c.*108A>C (n.*108A>C)
c.613A>C (p.Ser205Arg)
5g.159320391C>ACA362032619IL12Bc.-19G>T (n.-19G>T)
c.*107G>T (n.*107G>T)
c.612G>T (p.Glu204Asp)
dbSNP
5g.159320391C=CA1595017284IL12Bc.-19G= (n.-19G=)
c.*107G= (n.*107G=)
c.612G= (p.Glu204=)
5g.159320391C>GCA362032621IL12Bc.-19G>C (n.-19G>C)
c.*107G>C (n.*107G>C)
c.612G>C (p.Glu204Asp)
ClinVar dbSNP
5g.159320391C>TCA447510975IL12Bc.-19G>A (n.-19G>A)
c.*107G>A (n.*107G>A)
c.612G>A (p.Glu204=)
dbSNP
5g.159320392T>ACA362032627IL12Bc.-20A>T (n.-20A>T)
c.*106A>T (n.*106A>T)
c.611A>T (p.Glu204Val)
5g.159320392T>CCA362032623IL12Bc.-20A>G (n.-20A>G)
c.*106A>G (n.*106A>G)
c.611A>G (p.Glu204Gly)
5g.159320392T>GCA362032625IL12Bc.-20A>C (n.-20A>C)
c.*106A>C (n.*106A>C)
c.611A>C (p.Glu204Ala)
5g.159320393C>ACA362032628IL12Bc.-21G>T (n.-21G>T)
c.*105G>T (n.*105G>T)
c.610G>T (p.Glu204Ter)
5g.159320393C>GCA362032634IL12Bc.-21G>C (n.-21G>C)
c.*105G>C (n.*105G>C)
c.610G>C (p.Glu204Gln)
5g.159320393C>TCA362032636IL12Bc.-21G>A (n.-21G>A)
c.*105G>A (n.*105G>A)
c.610G>A (p.Glu204Lys)
5g.159320394C>ACA362032638IL12Bc.-22G>T (n.-22G>T)
c.*104G>T (n.*104G>T)
c.609G>T (p.Glu203Asp)
5g.159320394C=CA1595017285IL12Bc.-22G= (n.-22G=)
c.*104G= (n.*104G=)
c.609G= (p.Glu203=)
5g.159320394C>GCA362032640IL12Bc.-22G>C (n.-22G>C)
c.*104G>C (n.*104G>C)
c.609G>C (p.Glu203Asp)
5g.159320394C>TCA3538758IL12Bc.-22G>A (n.-22G>A)
c.*104G>A (n.*104G>A)
c.609G>A (p.Glu203=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.159320395T>ACA362032646IL12Bc.-23A>T (n.-23A>T)
c.*103A>T (n.*103A>T)
c.608A>T (p.Glu203Val)
5g.159320395T>CCA362032644IL12Bc.-23A>G (n.-23A>G)
c.*103A>G (n.*103A>G)
c.608A>G (p.Glu203Gly)
gnomAD v4
5g.159320395T>GCA362032642IL12Bc.-23A>C (n.-23A>C)
c.*103A>C (n.*103A>C)
c.608A>C (p.Glu203Ala)
5g.159320396C>ACA362032648IL12Bc.-24G>T (n.-24G>T)
c.*102G>T (n.*102G>T)
c.607G>T (p.Glu203Ter)
5g.159320396C>GCA362032656IL12Bc.-24G>C (n.-24G>C)
c.*102G>C (n.*102G>C)
c.607G>C (p.Glu203Gln)
5g.159320396C>TCA362032654IL12Bc.-24G>A (n.-24G>A)
c.*102G>A (n.*102G>A)
c.607G>A (p.Glu203Lys)
5g.159320397A>CCA447510989IL12Bc.-25T>G (n.-25T>G)
c.*101T>G (n.*101T>G)
c.606T>G (p.Ala202=)
5g.159320397A>GCA447510991IL12Bc.-25T>C (n.-25T>C)
c.*101T>C (n.*101T>C)
c.606T>C (p.Ala202=)
5g.159320397A>TCA447510992IL12Bc.-25T>A (n.-25T>A)
c.*101T>A (n.*101T>A)
c.606T>A (p.Ala202=)
5g.159320398G>ACA362032658IL12Bc.-26C>T (n.-26C>T)
c.*100C>T (n.*100C>T)
c.605C>T (p.Ala202Val)
5g.159320398G>CCA362032661IL12Bc.-26C>G (n.-26C>G)
c.*100C>G (n.*100C>G)
c.605C>G (p.Ala202Gly)
5g.159320398G>TCA362032660IL12Bc.-26C>A (n.-26C>A)
c.*100C>A (n.*100C>A)
c.605C>A (p.Ala202Asp)
5g.159320399C>ACA129826815IL12Bc.-27G>T (n.-27G>T)
c.*99G>T (n.*99G>T)
c.604G>T (p.Ala202Ser)
dbSNP gnomAD v4
5g.159320399C=CA1595017286IL12Bc.-27G= (n.-27G=)
c.*99G= (n.*99G=)
c.604G= (p.Ala202=)
5g.159320399C>GCA362032664IL12Bc.-27G>C (n.-27G>C)
c.*99G>C (n.*99G>C)
c.604G>C (p.Ala202Pro)
5g.159320399C>TCA129826833IL12Bc.-27G>A (n.-27G>A)
c.*99G>A (n.*99G>A)
c.604G>A (p.Ala202Thr)
dbSNP gnomAD v3 gnomAD v4
5g.159320400A>CCA447510994IL12Bc.-28T>G (n.-28T>G)
c.*98T>G (n.*98T>G)
c.603T>G (p.Ala201=)
5g.159320400A>GCA447510995IL12Bc.-28T>C (n.-28T>C)
c.*98T>C (n.*98T>C)
c.603T>C (p.Ala201=)
5g.159320400A>TCA447510996IL12Bc.-28T>A (n.-28T>A)
c.*98T>A (n.*98T>A)
c.603T>A (p.Ala201=)
5g.159320401G>ACA362032667IL12Bc.-29C>T (n.-29C>T)
c.*97C>T (n.*97C>T)
c.602C>T (p.Ala201Val)
gnomAD v4
5g.159320401G>CCA362032674IL12Bc.-29C>G (n.-29C>G)
c.*97C>G (n.*97C>G)
c.602C>G (p.Ala201Gly)
gnomAD v4
5g.159320401G>TCA362032669IL12Bc.-29C>A (n.-29C>A)
c.*97C>A (n.*97C>A)
c.602C>A (p.Ala201Asp)
gnomAD v4
5g.159320402C>ACA362032680IL12Bc.-30G>T (n.-30G>T)
c.*96G>T (n.*96G>T)
c.601G>T (p.Ala201Ser)
5g.159320402C=CA1595017287IL12Bc.-30G= (n.-30G=)
c.*96G= (n.*96G=)
c.601G= (p.Ala201=)
5g.159320402C>GCA3538759IL12Bc.-30G>C (n.-30G>C)
c.*96G>C (n.*96G>C)
c.601G>C (p.Ala201Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.159320402C>TCA362032681IL12Bc.-30G>A (n.-30G>A)
c.*96G>A (n.*96G>A)
c.601G>A (p.Ala201Thr)
gnomAD v4
5g.159320403T>ACA447510998IL12Bc.-31A>T (n.-31A>T)
c.*95A>T (n.*95A>T)
c.600A>T (p.Pro200=)
5g.159320403T>CCA447510999IL12Bc.-31A>G (n.-31A>G)
c.*95A>G (n.*95A>G)
c.600A>G (p.Pro200=)
5g.159320403T>GCA447511000IL12Bc.-31A>C (n.-31A>C)
c.*95A>C (n.*95A>C)
c.600A>C (p.Pro200=)
5g.159320404G>ACA362032683IL12Bc.-32C>T (n.-32C>T)
c.*94C>T (n.*94C>T)
c.599C>T (p.Pro200Leu)
5g.159320404G>CCA362032684IL12Bc.-32C>G (n.-32C>G)
c.*94C>G (n.*94C>G)
c.599C>G (p.Pro200Arg)
5g.159320404G>TCA362032685IL12Bc.-32C>A (n.-32C>A)
c.*94C>A (n.*94C>A)
c.599C>A (p.Pro200Gln)
5g.159320405G>ACA362032686IL12Bc.-33C>T (n.-33C>T)
c.*93C>T (n.*93C>T)
c.598C>T (p.Pro200Ser)
dbSNP gnomAD v4
5g.159320405G>CCA3538760IL12Bc.-33C>G (n.-33C>G)
c.*93C>G (n.*93C>G)
c.598C>G (p.Pro200Ala)
dbSNP ExAC gnomAD v2
5g.159320405G=CA1595017288IL12Bc.-33C= (n.-33C=)
c.*93C= (n.*93C=)
c.598C= (p.Pro200=)
5g.159320405G>TCA362032691IL12Bc.-33C>A (n.-33C>A)
c.*93C>A (n.*93C>A)
c.598C>A (p.Pro200Thr)
5g.159320406G>ACA447511004IL12Bc.-34C>T (n.-34C>T)
c.*92C>T (n.*92C>T)
c.597C>T (p.Cys199=)
5g.159320406G>CCA362032693IL12Bc.-34C>G (n.-34C>G)
c.*92C>G (n.*92C>G)
c.597C>G (p.Cys199Trp)
5g.159320406G>TCA362032694IL12Bc.-34C>A (n.-34C>A)
c.*92C>A (n.*92C>A)
c.597C>A (p.Cys199Ter)
5g.159320407C>ACA362032695IL12Bc.-35G>T (n.-35G>T)
c.*91G>T (n.*91G>T)
c.596G>T (p.Cys199Phe)
5g.159320407C>GCA362032696IL12Bc.-35G>C (n.-35G>C)
c.*91G>C (n.*91G>C)
c.596G>C (p.Cys199Ser)
5g.159320407C>TCA362032697IL12Bc.-35G>A (n.-35G>A)
c.*91G>A (n.*91G>A)
c.596G>A (p.Cys199Tyr)
gnomAD v4
5g.159320408A>CCA362032699IL12Bc.-36T>G (n.-36T>G)
c.*90T>G (n.*90T>G)
c.595T>G (p.Cys199Gly)
5g.159320408A>GCA362032702IL12Bc.-36T>C (n.-36T>C)
c.*90T>C (n.*90T>C)
c.595T>C (p.Cys199Arg)
5g.159320408A>TCA362032700IL12Bc.-36T>A (n.-36T>A)
c.*90T>A (n.*90T>A)
c.595T>A (p.Cys199Ser)
5g.159320409G>ACA447511006IL12Bc.-37C>T (n.-37C>T)
c.*89C>T (n.*89C>T)
c.594C>T (p.Ala198=)
5g.159320409G>CCA447511008IL12Bc.-37C>G (n.-37C>G)
c.*89C>G (n.*89C>G)
c.594C>G (p.Ala198=)
5g.159320409G>TCA447511007IL12Bc.-37C>A (n.-37C>A)
c.*89C>A (n.*89C>A)
c.594C>A (p.Ala198=)
5g.159320410G>ACA362032704IL12Bc.-38C>T (n.-38C>T)
c.*88C>T (n.*88C>T)
c.593C>T (p.Ala198Val)
5g.159320410G>CCA362032708IL12Bc.-38C>G (n.-38C>G)
c.*88C>G (n.*88C>G)
c.593C>G (p.Ala198Gly)
gnomAD v4
5g.159320410G>TCA362032710IL12Bc.-38C>A (n.-38C>A)
c.*88C>A (n.*88C>A)
c.593C>A (p.Ala198Asp)
5g.159320411C>ACA362032714IL12Bc.-39G>T (n.-39G>T)
c.*87G>T (n.*87G>T)
c.592G>T (p.Ala198Ser)
dbSNP
5g.159320411C=CA1595017289IL12Bc.-39G= (n.-39G=)
c.*87G= (n.*87G=)
c.592G= (p.Ala198=)
5g.159320411C>GCA362032717IL12Bc.-39G>C (n.-39G>C)
c.*87G>C (n.*87G>C)
c.592G>C (p.Ala198Pro)
5g.159320411C>TCA362032718IL12Bc.-39G>A (n.-39G>A)
c.*87G>A (n.*87G>A)
c.592G>A (p.Ala198Thr)
gnomAD v4
5g.159320412A>CCA362032719IL12Bc.-40T>G (n.-40T>G)
c.*86T>G (n.*86T>G)
c.591T>G (p.Ser197Arg)
5g.159320412A>GCA447511010IL12Bc.-40T>C (n.-40T>C)
c.*86T>C (n.*86T>C)
c.591T>C (p.Ser197=)
gnomAD v4
5g.159320412A>TCA362032720IL12Bc.-40T>A (n.-40T>A)
c.*86T>A (n.*86T>A)
c.591T>A (p.Ser197Arg)
5g.159320412_159320417delinsACTGTCCA1595017290IL12Bc.-45_-40delinsGACAGT (n.-45_-40delinsGACAGT)
c.*81_*86delinsGACAGT (n.*81_*86delinsGACAGT)
c.586_591delinsGACAGT (p.Asp196=)
5g.159320413C>ACA362032724IL12Bc.-41G>T (n.-41G>T)
c.*85G>T (n.*85G>T)
c.590G>T (p.Ser197Ile)
5g.159320413C>GCA362032727IL12Bc.-41G>C (n.-41G>C)
c.*85G>C (n.*85G>C)
c.590G>C (p.Ser197Thr)
5g.159320413C>TCA362032723IL12Bc.-41G>A (n.-41G>A)
c.*85G>A (n.*85G>A)
c.590G>A (p.Ser197Asn)
5g.159320415_159320419delCA1083507605IL12Bc.-45_-41del (n.-45_-41del)
c.*81_*85del (n.*81_*85del)
c.586_590del (p.Asp196CysfsTer6)
dbSNP gnomAD v3 gnomAD v4
5g.159320414T>ACA362032728IL12Bc.-42A>T (n.-42A>T)
c.*84A>T (n.*84A>T)
c.589A>T (p.Ser197Cys)
5g.159320414T>CCA362032730IL12Bc.-42A>G (n.-42A>G)
c.*84A>G (n.*84A>G)
c.589A>G (p.Ser197Gly)
gnomAD v4
5g.159320414T>GCA362032732IL12Bc.-42A>C (n.-42A>C)
c.*84A>C (n.*84A>C)
c.589A>C (p.Ser197Arg)
5g.159320415G>ACA447511014IL12Bc.-43C>T (n.-43C>T)
c.*83C>T (n.*83C>T)
c.588C>T (p.Asp196=)
5g.159320415G>CCA129826846IL12Bc.-43C>G (n.-43C>G)
c.*83C>G (n.*83C>G)
c.588C>G (p.Asp196Glu)
dbSNP gnomAD v4
5g.159320415G=CA1595017291IL12Bc.-43C= (n.-43C=)
c.*83C= (n.*83C=)
c.588C= (p.Asp196=)
5g.159320415G>TCA362032734IL12Bc.-43C>A (n.-43C>A)
c.*83C>A (n.*83C>A)
c.588C>A (p.Asp196Glu)
5g.159320415_159320418delinsGTCCCA1595017292IL12Bc.-46_-43delinsGGAC (n.-46_-43delinsGGAC)
c.*80_*83delinsGGAC (n.*80_*83delinsGGAC)
c.585_588delinsGGAC (p.Glu195=)
5g.159320416T>ACA362032741IL12Bc.-44A>T (n.-44A>T)
c.*82A>T (n.*82A>T)
c.587A>T (p.Asp196Val)
dbSNP gnomAD v2 gnomAD v4
5g.159320416T>CCA362032737IL12Bc.-44A>G (n.-44A>G)
c.*82A>G (n.*82A>G)
c.587A>G (p.Asp196Gly)
5g.159320416T>GCA362032739IL12Bc.-44A>C (n.-44A>C)
c.*82A>C (n.*82A>C)
c.587A>C (p.Asp196Ala)
5g.159320416T=CA1595017293IL12Bc.-44A= (n.-44A=)
c.*82A= (n.*82A=)
c.587A= (p.Asp196=)
5g.159320420_159320422delCA891842622IL12Bc.-46_-44del (n.-46_-44del)
c.*80_*82del (n.*80_*82del)
c.585_587del (p.Glu195del)
ClinVar dbSNP gnomAD v4
5g.159320417C>ACA362032743IL12Bc.-45G>T (n.-45G>T)
c.*81G>T (n.*81G>T)
c.586G>T (p.Asp196Tyr)
gnomAD v4
5g.159320417C>GCA362032744IL12Bc.-45G>C (n.-45G>C)
c.*81G>C (n.*81G>C)
c.586G>C (p.Asp196His)
5g.159320417C>TCA362032746IL12Bc.-45G>A (n.-45G>A)
c.*81G>A (n.*81G>A)
c.586G>A (p.Asp196Asn)
5g.159320418C>ACA362032749IL12Bc.-46G>T (n.-46G>T)
c.*80G>T (n.*80G>T)
c.585G>T (p.Glu195Asp)
5g.159320418C>GCA362032751IL12Bc.-46G>C (n.-46G>C)
c.*80G>C (n.*80G>C)
c.585G>C (p.Glu195Asp)
5g.159320418C>TCA447511018IL12Bc.-46G>A (n.-46G>A)
c.*80G>A (n.*80G>A)
c.585G>A (p.Glu195=)

Number of alleles fetched