Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.159320290delCA2676265306IL12Bc.67+17del (n.67+17del)
c.*192+17del (n.*192+17del)
c.697+17del (n.697+17del)
 gnomAD v4
5g.159320290A=CA1595017251IL12Bc.67+16T= (n.67+16T=)
c.*192+16T= (n.*192+16T=)
c.697+16T= (n.697+16T=)
5g.159320290A>GCA564436277IL12Bc.67+16T>C (n.67+16T>C)
c.*192+16T>C (n.*192+16T>C)
c.697+16T>C (n.697+16T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.159320292C>ACA2676265307IL12Bc.67+14G>T (n.67+14G>T)
c.*192+14G>T (n.*192+14G>T)
c.697+14G>T (n.697+14G>T)
 gnomAD v4
5g.159320294T=CA1595017252IL12Bc.67+12A= (n.67+12A=)
c.*192+12A= (n.*192+12A=)
c.697+12A= (n.697+12A=)
5g.159320296dupCA129826755IL12Bc.67+11dup (n.67+11dup)
c.*192+11dup (n.*192+11dup)
c.697+11dup (n.697+11dup)
 dbSNP
5g.159320296C=CA1595017253IL12Bc.67+10G= (n.67+10G=)
c.*192+10G= (n.*192+10G=)
c.697+10G= (n.697+10G=)
5g.159320296C>GCA2676265308IL12Bc.67+10G>C (n.67+10G>C)
c.*192+10G>C (n.*192+10G>C)
c.697+10G>C (n.697+10G>C)
 gnomAD v4
5g.159320296C>TCA3538746IL12Bc.67+10G>A (n.67+10G>A)
c.*192+10G>A (n.*192+10G>A)
c.697+10G>A (n.697+10G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.159320297A>GCA2676265309IL12Bc.67+9T>C (n.67+9T>C)
c.*192+9T>C (n.*192+9T>C)
c.697+9T>C (n.697+9T>C)
 gnomAD v4
5g.159320298A>GCA2578471103IL12Bc.67+8T>C (n.67+8T>C)
c.*192+8T>C (n.*192+8T>C)
c.697+8T>C (n.697+8T>C)
5g.159320299A>CCA2769108058IL12Bc.67+7T>G (n.67+7T>G)
c.*192+7T>G (n.*192+7T>G)
c.697+7T>G (n.697+7T>G)
5g.159320300A>CCA2578471104IL12Bc.67+6T>G (n.67+6T>G)
c.*192+6T>G (n.*192+6T>G)
c.697+6T>G (n.697+6T>G)
5g.159320301C>TCA2573139335IL12Bc.67+5G>A (n.67+5G>A)
c.*192+5G>A (n.*192+5G>A)
c.697+5G>A (n.697+5G>A)
 ClinVar dbSNP gnomAD v4
5g.159320302T>GCA2676265310IL12Bc.67+4A>C (n.67+4A>C)
c.*192+4A>C (n.*192+4A>C)
c.697+4A>C (n.697+4A>C)
 gnomAD v4
5g.159320304A>CCA362032158IL12Bc.67+2T>G (n.67+2T>G)
c.*192+2T>G (n.*192+2T>G)
c.697+2T>G (n.697+2T>G)
5g.159320304A>GCA362032159IL12Bc.67+2T>C (n.67+2T>C)
c.*192+2T>C (n.*192+2T>C)
c.697+2T>C (n.697+2T>C)
5g.159320304A>TCA362032160IL12Bc.67+2T>A (n.67+2T>A)
c.*192+2T>A (n.*192+2T>A)
c.697+2T>A (n.697+2T>A)
5g.159320305C>ACA362032161IL12Bc.67+1G>T (n.67+1G>T)
c.*192+1G>T (n.*192+1G>T)
c.697+1G>T (n.697+1G>T)
5g.159320305C=CA1595017254IL12Bc.67+1G= (n.67+1G=)
c.*192+1G= (n.*192+1G=)
c.697+1G= (n.697+1G=)
5g.159320305C>GCA362032162IL12Bc.67+1G>C (n.67+1G>C)
c.*192+1G>C (n.*192+1G>C)
c.697+1G>C (n.697+1G>C)
5g.159320305C>TCA362032164IL12Bc.67+1G>A (n.67+1G>A)
c.*192+1G>A (n.*192+1G>A)
c.697+1G>A (n.697+1G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.159320306T>ACA362032166IL12Bc.67A>T (p.Ile23Phe)
c.*192A>T (n.*192A>T)
c.697A>T (p.Ile233Phe)
5g.159320306T>CCA362032168IL12Bc.67A>G (p.Ile23Val)
c.*192A>G (n.*192A>G)
c.697A>G (p.Ile233Val)
 gnomAD v4
5g.159320306T>GCA362032167IL12Bc.67A>C (p.Ile23Leu)
c.*192A>C (n.*192A>C)
c.697A>C (p.Ile233Leu)
5g.159320307G>ACA447510724IL12Bc.66C>T (p.Ile22=)
c.*191C>T (n.*191C>T)
c.696C>T (p.Ile232=)
5g.159320307G>CCA362032169IL12Bc.66C>G (p.Ile22Met)
c.*191C>G (n.*191C>G)
c.696C>G (p.Ile232Met)
5g.159320307G>TCA447510722IL12Bc.66C>A (p.Ile22=)
c.*191C>A (n.*191C>A)
c.696C>A (p.Ile232=)
5g.159320308A>CCA362032171IL12Bc.65T>G (p.Ile22Ser)
c.*190T>G (n.*190T>G)
c.695T>G (p.Ile232Ser)
5g.159320308A>GCA362032173IL12Bc.65T>C (p.Ile22Thr)
c.*190T>C (n.*190T>C)
c.695T>C (p.Ile232Thr)
5g.159320308A>TCA362032176IL12Bc.65T>A (p.Ile22Asn)
c.*190T>A (n.*190T>A)
c.695T>A (p.Ile232Asn)
5g.159320309T>ACA362032180IL12Bc.64A>T (p.Ile22Phe)
c.*189A>T (n.*189A>T)
c.694A>T (p.Ile232Phe)
5g.159320309T>CCA362032182IL12Bc.64A>G (p.Ile22Val)
c.*189A>G (n.*189A>G)
c.694A>G (p.Ile232Val)
 gnomAD v4
5g.159320309T>GCA362032184IL12Bc.64A>C (p.Ile22Leu)
c.*189A>C (n.*189A>C)
c.694A>C (p.Ile232Leu)
5g.159320310G>ACA447510732IL12Bc.63C>T (p.Asp21=)
c.*188C>T (n.*188C>T)
c.693C>T (p.Asp231=)
5g.159320310G>CCA362032188IL12Bc.63C>G (p.Asp21Glu)
c.*188C>G (n.*188C>G)
c.693C>G (p.Asp231Glu)
5g.159320310G>TCA362032190IL12Bc.63C>A (p.Asp21Glu)
c.*188C>A (n.*188C>A)
c.693C>A (p.Asp231Glu)
5g.159320311T>ACA362032193IL12Bc.62A>T (p.Asp21Val)
c.*187A>T (n.*187A>T)
c.692A>T (p.Asp231Val)
5g.159320311T>CCA362032196IL12Bc.62A>G (p.Asp21Gly)
c.*187A>G (n.*187A>G)
c.692A>G (p.Asp231Gly)
 COSMIC COSMIC
5g.159320311T>GCA362032199IL12Bc.62A>C (p.Asp21Ala)
c.*187A>C (n.*187A>C)
c.692A>C (p.Asp231Ala)
5g.159320312C>ACA362032212IL12Bc.61G>T (p.Asp21Tyr)
c.*186G>T (n.*186G>T)
c.691G>T (p.Asp231Tyr)
5g.159320312C>GCA362032203IL12Bc.61G>C (p.Asp21His)
c.*186G>C (n.*186G>C)
c.691G>C (p.Asp231His)
5g.159320312C>TCA362032210IL12Bc.61G>A (p.Asp21Asn)
c.*186G>A (n.*186G>A)
c.691G>A (p.Asp231Asn)
5g.159320313C>ACA362032216IL12Bc.60G>T (p.Arg20Ser)
c.*185G>T (n.*185G>T)
c.690G>T (p.Arg230Ser)
5g.159320313C>GCA362032217IL12Bc.60G>C (p.Arg20Ser)
c.*185G>C (n.*185G>C)
c.690G>C (p.Arg230Ser)
5g.159320313C>TCA447510741IL12Bc.60G>A (p.Arg20=)
c.*185G>A (n.*185G>A)
c.690G>A (p.Arg230=)
5g.159320314C>ACA362032221IL12Bc.59G>T (p.Arg20Met)
c.*184G>T (n.*184G>T)
c.689G>T (p.Arg230Met)
5g.159320314C>GCA362032222IL12Bc.59G>C (p.Arg20Thr)
c.*184G>C (n.*184G>C)
c.689G>C (p.Arg230Thr)
5g.159320314C>TCA362032227IL12Bc.59G>A (p.Arg20Lys)
c.*184G>A (n.*184G>A)
c.689G>A (p.Arg230Lys)
5g.159320315T>ACA362032228IL12Bc.58A>T (p.Arg20Trp)
c.*183A>T (n.*183A>T)
c.688A>T (p.Arg230Trp)
5g.159320315T>CCA362032231IL12Bc.58A>G (p.Arg20Gly)
c.*183A>G (n.*183A>G)
c.688A>G (p.Arg230Gly)
5g.159320315T>GCA447510746IL12Bc.58A>C (p.Arg20=)
c.*183A>C (n.*183A>C)
c.688A>C (p.Arg230=)
 dbSNP gnomAD v2
5g.159320315T=CA1595017255IL12Bc.58A= (p.Arg20=)
c.*183A= (n.*183A=)
c.688A= (p.Arg230=)
5g.159320316G>ACA447510749IL12Bc.57C>T (p.Ile19=)
c.*182C>T (n.*182C>T)
c.687C>T (p.Ile229=)
 dbSNP
5g.159320316G>CCA129826760IL12Bc.57C>G (p.Ile19Met)
c.*182C>G (n.*182C>G)
c.687C>G (p.Ile229Met)
 dbSNP gnomAD v3 gnomAD v4
5g.159320316G=CA1595017256IL12Bc.57C= (p.Ile19=)
c.*182C= (n.*182C=)
c.687C= (p.Ile229=)
5g.159320316G>TCA447510751IL12Bc.57C>A (p.Ile19=)
c.*182C>A (n.*182C>A)
c.687C>A (p.Ile229=)
5g.159320317A>CCA362032235IL12Bc.56T>G (p.Ile19Ser)
c.*181T>G (n.*181T>G)
c.686T>G (p.Ile229Ser)
5g.159320317A>GCA362032237IL12Bc.56T>C (p.Ile19Thr)
c.*181T>C (n.*181T>C)
c.686T>C (p.Ile229Thr)
5g.159320317A>TCA362032240IL12Bc.56T>A (p.Ile19Asn)
c.*181T>A (n.*181T>A)
c.686T>A (p.Ile229Asn)
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

Number of alleles fetched