UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.159320258_159320259delinsCA | CA1595017233 | IL12B | c.67+47_67+48delinsTG (n.67+47_67+48delinsTG) c.*192+47_*192+48delinsTG (n.*192+47_*192+48delinsTG) c.697+47_697+48delinsTG (n.697+47_697+48delinsTG) | |
| 5 | g.159320261del | CA564436271 | IL12B | c.67+47del (n.67+47del) c.*192+47del (n.*192+47del) c.697+47del (n.697+47del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.159320261A>G | CA2676265296 | IL12B | c.67+45T>C (n.67+45T>C) c.*192+45T>C (n.*192+45T>C) c.697+45T>C (n.697+45T>C) | gnomAD v4 |
| 5 | g.159320262T>C | CA3538740 | IL12B | c.67+44A>G (n.67+44A>G) c.*192+44A>G (n.*192+44A>G) c.697+44A>G (n.697+44A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.159320262T= | CA1595017234 | IL12B | c.67+44A= (n.67+44A=) c.*192+44A= (n.*192+44A=) c.697+44A= (n.697+44A=) | |
| 5 | g.159320263A= | CA1595017235 | IL12B | c.67+43T= (n.67+43T=) c.*192+43T= (n.*192+43T=) c.697+43T= (n.697+43T=) | |
| 5 | g.159320263A>G | CA3538741 | IL12B | c.67+43T>C (n.67+43T>C) c.*192+43T>C (n.*192+43T>C) c.697+43T>C (n.697+43T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.159320263A>T | CA2578471100 | IL12B | c.67+43T>A (n.67+43T>A) c.*192+43T>A (n.*192+43T>A) c.697+43T>A (n.697+43T>A) | |
| 5 | g.159320264G>A | CA3538742 | IL12B | c.67+42C>T (n.67+42C>T) c.*192+42C>T (n.*192+42C>T) c.697+42C>T (n.697+42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.159320264G= | CA1595017236 | IL12B | c.67+42C= (n.67+42C=) c.*192+42C= (n.*192+42C=) c.697+42C= (n.697+42C=) | |
| 5 | g.159320264G>T | CA2676265297 | IL12B | c.67+42C>A (n.67+42C>A) c.*192+42C>A (n.*192+42C>A) c.697+42C>A (n.697+42C>A) | gnomAD v4 |
| 5 | g.159320265T>C | CA2676265298 | IL12B | c.67+41A>G (n.67+41A>G) c.*192+41A>G (n.*192+41A>G) c.697+41A>G (n.697+41A>G) | gnomAD v4 |
| 5 | g.159320266A>G | CA2676265299 | IL12B | c.67+40T>C (n.67+40T>C) c.*192+40T>C (n.*192+40T>C) c.697+40T>C (n.697+40T>C) | gnomAD v4 |
| 5 | g.159320267T>G | CA806389327 | IL12B | c.67+39A>C (n.67+39A>C) c.*192+39A>C (n.*192+39A>C) c.697+39A>C (n.697+39A>C) | dbSNP |
| 5 | g.159320267T= | CA1595017237 | IL12B | c.67+39A= (n.67+39A=) c.*192+39A= (n.*192+39A=) c.697+39A= (n.697+39A=) | |
| 5 | g.159320268C>A | CA2676265300 | IL12B | c.67+38G>T (n.67+38G>T) c.*192+38G>T (n.*192+38G>T) c.697+38G>T (n.697+38G>T) | gnomAD v4 |
| 5 | g.159320269T>C | CA564436272 | IL12B | c.67+37A>G (n.67+37A>G) c.*192+37A>G (n.*192+37A>G) c.697+37A>G (n.697+37A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.159320269T= | CA1595017238 | IL12B | c.67+37A= (n.67+37A=) c.*192+37A= (n.*192+37A=) c.697+37A= (n.697+37A=) | |
| 5 | g.159320272C>A | CA2676265301 | IL12B | c.67+34G>T (n.67+34G>T) c.*192+34G>T (n.*192+34G>T) c.697+34G>T (n.697+34G>T) | gnomAD v4 |
| 5 | g.159320272C= | CA1595017239 | IL12B | c.67+34G= (n.67+34G=) c.*192+34G= (n.*192+34G=) c.697+34G= (n.697+34G=) | |
| 5 | g.159320272C>T | CA1595017240 | IL12B | c.67+34G>A (n.67+34G>A) c.*192+34G>A (n.*192+34G>A) c.697+34G>A (n.697+34G>A) | dbSNP gnomAD v4 |
| 5 | g.159320273C= | CA1595017241 | IL12B | c.67+33G= (n.67+33G=) c.*192+33G= (n.*192+33G=) c.697+33G= (n.697+33G=) | |
| 5 | g.159320273C>T | CA3538743 | IL12B | c.67+33G>A (n.67+33G>A) c.*192+33G>A (n.*192+33G>A) c.697+33G>A (n.697+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.159320274T>C | CA2578471101 | IL12B | c.67+32A>G (n.67+32A>G) c.*192+32A>G (n.*192+32A>G) c.697+32A>G (n.697+32A>G) | |
| 5 | g.159320275T>C | CA564436273 | IL12B | c.67+31A>G (n.67+31A>G) c.*192+31A>G (n.*192+31A>G) c.697+31A>G (n.697+31A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.159320275T= | CA1595017242 | IL12B | c.67+31A= (n.67+31A=) c.*192+31A= (n.*192+31A=) c.697+31A= (n.697+31A=) | |
| 5 | g.159320276A= | CA1595017243 | IL12B | c.67+30T= (n.67+30T=) c.*192+30T= (n.*192+30T=) c.697+30T= (n.697+30T=) | |
| 5 | g.159320276A>G | CA3538744 | IL12B | c.67+30T>C (n.67+30T>C) c.*192+30T>C (n.*192+30T>C) c.697+30T>C (n.697+30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.159320277T>C | CA1083507542 | IL12B | c.67+29A>G (n.67+29A>G) c.*192+29A>G (n.*192+29A>G) c.697+29A>G (n.697+29A>G) | dbSNP |
| 5 | g.159320277T= | CA1595017244 | IL12B | c.67+29A= (n.67+29A=) c.*192+29A= (n.*192+29A=) c.697+29A= (n.697+29A=) | |
| 5 | g.159320278G>A | CA564436274 | IL12B | c.67+28C>T (n.67+28C>T) c.*192+28C>T (n.*192+28C>T) c.697+28C>T (n.697+28C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.159320278G= | CA1595017245 | IL12B | c.67+28C= (n.67+28C=) c.*192+28C= (n.*192+28C=) c.697+28C= (n.697+28C=) | |
| 5 | g.159320280A>G | CA2676265302 | IL12B | c.67+26T>C (n.67+26T>C) c.*192+26T>C (n.*192+26T>C) c.697+26T>C (n.697+26T>C) | gnomAD v4 |
| 5 | g.159320281G>A | CA129826748 | IL12B | c.67+25C>T (n.67+25C>T) c.*192+25C>T (n.*192+25C>T) c.697+25C>T (n.697+25C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.159320281G>C | CA2676265303 | IL12B | c.67+25C>G (n.67+25C>G) c.*192+25C>G (n.*192+25C>G) c.697+25C>G (n.697+25C>G) | gnomAD v4 |
| 5 | g.159320281G= | CA1595017246 | IL12B | c.67+25C= (n.67+25C=) c.*192+25C= (n.*192+25C=) c.697+25C= (n.697+25C=) | |
| 5 | g.159320281G>T | CA2578471102 | IL12B | c.67+25C>A (n.67+25C>A) c.*192+25C>A (n.*192+25C>A) c.697+25C>A (n.697+25C>A) | gnomAD v4 |
| 5 | g.159320282C>A | CA1595017248 | IL12B | c.67+24G>T (n.67+24G>T) c.*192+24G>T (n.*192+24G>T) c.697+24G>T (n.697+24G>T) | dbSNP gnomAD v4 |
| 5 | g.159320282C= | CA1595017247 | IL12B | c.67+24G= (n.67+24G=) c.*192+24G= (n.*192+24G=) c.697+24G= (n.697+24G=) | |
| 5 | g.159320282C>T | CA129826751 | IL12B | c.67+24G>A (n.67+24G>A) c.*192+24G>A (n.*192+24G>A) c.697+24G>A (n.697+24G>A) | dbSNP gnomAD v4 |
| 5 | g.159320284C>T | CA2676265304 | IL12B | c.67+22G>A (n.67+22G>A) c.*192+22G>A (n.*192+22G>A) c.697+22G>A (n.697+22G>A) | gnomAD v4 |
| 5 | g.159320285A= | CA1595017249 | IL12B | c.67+21T= (n.67+21T=) c.*192+21T= (n.*192+21T=) c.697+21T= (n.697+21T=) | |
| 5 | g.159320285A>G | CA564436275 | IL12B | c.67+21T>C (n.67+21T>C) c.*192+21T>C (n.*192+21T>C) c.697+21T>C (n.697+21T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.159320285A>T | CA3538745 | IL12B | c.67+21T>A (n.67+21T>A) c.*192+21T>A (n.*192+21T>A) c.697+21T>A (n.697+21T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.159320287A= | CA1595017250 | IL12B | c.67+19T= (n.67+19T=) c.*192+19T= (n.*192+19T=) c.697+19T= (n.697+19T=) | |
| 5 | g.159320287A>G | CA564436276 | IL12B | c.67+19T>C (n.67+19T>C) c.*192+19T>C (n.*192+19T>C) c.697+19T>C (n.697+19T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.159320287A>T | CA2676265305 | IL12B | c.67+19T>A (n.67+19T>A) c.*192+19T>A (n.*192+19T>A) c.697+19T>A (n.697+19T>A) | gnomAD v4 |
| 5 | g.159320290del | CA2676265306 | IL12B | c.67+17del (n.67+17del) c.*192+17del (n.*192+17del) c.697+17del (n.697+17del) | gnomAD v4 |
| 5 | g.159320290A= | CA1595017251 | IL12B | c.67+16T= (n.67+16T=) c.*192+16T= (n.*192+16T=) c.697+16T= (n.697+16T=) | |
| 5 | g.159320290A>G | CA564436277 | IL12B | c.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 |
| 5 | g.159320292C>A | CA2676265307 | IL12B | c.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 |
| 5 | g.159320294T= | CA1595017252 | IL12B | c.67+12A= (n.67+12A=) c.*192+12A= (n.*192+12A=) c.697+12A= (n.697+12A=) | |
| 5 | g.159320296dup | CA129826755 | IL12B | c.67+11dup (n.67+11dup) c.*192+11dup (n.*192+11dup) c.697+11dup (n.697+11dup) | dbSNP |
| 5 | g.159320296C= | CA1595017253 | IL12B | c.67+10G= (n.67+10G=) c.*192+10G= (n.*192+10G=) c.697+10G= (n.697+10G=) | |
| 5 | g.159320296C>G | CA2676265308 | IL12B | c.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 |
| 5 | g.159320296C>T | CA3538746 | IL12B | c.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 |
| 5 | g.159320297A>G | CA2676265309 | IL12B | c.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 |
| 5 | g.159320298A>G | CA2578471103 | IL12B | c.67+8T>C (n.67+8T>C) c.*192+8T>C (n.*192+8T>C) c.697+8T>C (n.697+8T>C) | |
| 5 | g.159320299A>C | CA2769108058 | IL12B | c.67+7T>G (n.67+7T>G) c.*192+7T>G (n.*192+7T>G) c.697+7T>G (n.697+7T>G) | |
| 5 | g.159320300A>C | CA2578471104 | IL12B | c.67+6T>G (n.67+6T>G) c.*192+6T>G (n.*192+6T>G) c.697+6T>G (n.697+6T>G) | |
| 5 | g.159320301C>T | CA2573139335 | IL12B | c.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 |
| 5 | g.159320302T>G | CA2676265310 | IL12B | c.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 |
| 5 | g.159320304A>C | CA362032158 | IL12B | c.67+2T>G (n.67+2T>G) c.*192+2T>G (n.*192+2T>G) c.697+2T>G (n.697+2T>G) | |
| 5 | g.159320304A>G | CA362032159 | IL12B | c.67+2T>C (n.67+2T>C) c.*192+2T>C (n.*192+2T>C) c.697+2T>C (n.697+2T>C) | |
| 5 | g.159320304A>T | CA362032160 | IL12B | c.67+2T>A (n.67+2T>A) c.*192+2T>A (n.*192+2T>A) c.697+2T>A (n.697+2T>A) | |
| 5 | g.159320305C>A | CA362032161 | IL12B | c.67+1G>T (n.67+1G>T) c.*192+1G>T (n.*192+1G>T) c.697+1G>T (n.697+1G>T) | |
| 5 | g.159320305C= | CA1595017254 | IL12B | c.67+1G= (n.67+1G=) c.*192+1G= (n.*192+1G=) c.697+1G= (n.697+1G=) | |
| 5 | g.159320305C>G | CA362032162 | IL12B | c.67+1G>C (n.67+1G>C) c.*192+1G>C (n.*192+1G>C) c.697+1G>C (n.697+1G>C) | |
| 5 | g.159320305C>T | CA362032164 | IL12B | c.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 |
| 5 | g.159320306T>A | CA362032166 | IL12B | c.67A>T (p.Ile23Phe) c.*192A>T (n.*192A>T) c.697A>T (p.Ile233Phe) | |
| 5 | g.159320306T>C | CA362032168 | IL12B | c.67A>G (p.Ile23Val) c.*192A>G (n.*192A>G) c.697A>G (p.Ile233Val) | gnomAD v4 |
| 5 | g.159320306T>G | CA362032167 | IL12B | c.67A>C (p.Ile23Leu) c.*192A>C (n.*192A>C) c.697A>C (p.Ile233Leu) | |
| 5 | g.159320307G>A | CA447510724 | IL12B | c.66C>T (p.Ile22=) c.*191C>T (n.*191C>T) c.696C>T (p.Ile232=) | |
| 5 | g.159320307G>C | CA362032169 | IL12B | c.66C>G (p.Ile22Met) c.*191C>G (n.*191C>G) c.696C>G (p.Ile232Met) | |
| 5 | g.159320307G>T | CA447510722 | IL12B | c.66C>A (p.Ile22=) c.*191C>A (n.*191C>A) c.696C>A (p.Ile232=) | |
| 5 | g.159320308A>C | CA362032171 | IL12B | c.65T>G (p.Ile22Ser) c.*190T>G (n.*190T>G) c.695T>G (p.Ile232Ser) | |
| 5 | g.159320308A>G | CA362032173 | IL12B | c.65T>C (p.Ile22Thr) c.*190T>C (n.*190T>C) c.695T>C (p.Ile232Thr) | |
| 5 | g.159320308A>T | CA362032176 | IL12B | c.65T>A (p.Ile22Asn) c.*190T>A (n.*190T>A) c.695T>A (p.Ile232Asn) | |
| 5 | g.159320309T>A | CA362032180 | IL12B | c.64A>T (p.Ile22Phe) c.*189A>T (n.*189A>T) c.694A>T (p.Ile232Phe) | |
| 5 | g.159320309T>C | CA362032182 | IL12B | c.64A>G (p.Ile22Val) c.*189A>G (n.*189A>G) c.694A>G (p.Ile232Val) | gnomAD v4 |
| 5 | g.159320309T>G | CA362032184 | IL12B | c.64A>C (p.Ile22Leu) c.*189A>C (n.*189A>C) c.694A>C (p.Ile232Leu) | |
| 5 | g.159320310G>A | CA447510732 | IL12B | c.63C>T (p.Asp21=) c.*188C>T (n.*188C>T) c.693C>T (p.Asp231=) | |
| 5 | g.159320310G>C | CA362032188 | IL12B | c.63C>G (p.Asp21Glu) c.*188C>G (n.*188C>G) c.693C>G (p.Asp231Glu) | |
| 5 | g.159320310G>T | CA362032190 | IL12B | c.63C>A (p.Asp21Glu) c.*188C>A (n.*188C>A) c.693C>A (p.Asp231Glu) | |
| 5 | g.159320311T>A | CA362032193 | IL12B | c.62A>T (p.Asp21Val) c.*187A>T (n.*187A>T) c.692A>T (p.Asp231Val) | |
| 5 | g.159320311T>C | CA362032196 | IL12B | c.62A>G (p.Asp21Gly) c.*187A>G (n.*187A>G) c.692A>G (p.Asp231Gly) | COSMIC COSMIC |
| 5 | g.159320311T>G | CA362032199 | IL12B | c.62A>C (p.Asp21Ala) c.*187A>C (n.*187A>C) c.692A>C (p.Asp231Ala) | |
| 5 | g.159320312C>A | CA362032212 | IL12B | c.61G>T (p.Asp21Tyr) c.*186G>T (n.*186G>T) c.691G>T (p.Asp231Tyr) | |
| 5 | g.159320312C>G | CA362032203 | IL12B | c.61G>C (p.Asp21His) c.*186G>C (n.*186G>C) c.691G>C (p.Asp231His) | |
| 5 | g.159320312C>T | CA362032210 | IL12B | c.61G>A (p.Asp21Asn) c.*186G>A (n.*186G>A) c.691G>A (p.Asp231Asn) | |
| 5 | g.159320313C>A | CA362032216 | IL12B | c.60G>T (p.Arg20Ser) c.*185G>T (n.*185G>T) c.690G>T (p.Arg230Ser) | |
| 5 | g.159320313C>G | CA362032217 | IL12B | c.60G>C (p.Arg20Ser) c.*185G>C (n.*185G>C) c.690G>C (p.Arg230Ser) | |
| 5 | g.159320313C>T | CA447510741 | IL12B | c.60G>A (p.Arg20=) c.*185G>A (n.*185G>A) c.690G>A (p.Arg230=) | |
| 5 | g.159320314C>A | CA362032221 | IL12B | c.59G>T (p.Arg20Met) c.*184G>T (n.*184G>T) c.689G>T (p.Arg230Met) | |
| 5 | g.159320314C>G | CA362032222 | IL12B | c.59G>C (p.Arg20Thr) c.*184G>C (n.*184G>C) c.689G>C (p.Arg230Thr) | |
| 5 | g.159320314C>T | CA362032227 | IL12B | c.59G>A (p.Arg20Lys) c.*184G>A (n.*184G>A) c.689G>A (p.Arg230Lys) | |
| 5 | g.159320315T>A | CA362032228 | IL12B | c.58A>T (p.Arg20Trp) c.*183A>T (n.*183A>T) c.688A>T (p.Arg230Trp) | |
| 5 | g.159320315T>C | CA362032231 | IL12B | c.58A>G (p.Arg20Gly) c.*183A>G (n.*183A>G) c.688A>G (p.Arg230Gly) | |
| 5 | g.159320315T>G | CA447510746 | IL12B | c.58A>C (p.Arg20=) c.*183A>C (n.*183A>C) c.688A>C (p.Arg230=) | dbSNP gnomAD v2 |
| 5 | g.159320315T= | CA1595017255 | IL12B | c.58A= (p.Arg20=) c.*183A= (n.*183A=) c.688A= (p.Arg230=) | |
| 5 | g.159320316G>A | CA447510749 | IL12B | c.57C>T (p.Ile19=) c.*182C>T (n.*182C>T) c.687C>T (p.Ile229=) | dbSNP |
| 5 | g.159320316G>C | CA129826760 | IL12B | c.57C>G (p.Ile19Met) c.*182C>G (n.*182C>G) c.687C>G (p.Ile229Met) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.159320316G= | CA1595017256 | IL12B | c.57C= (p.Ile19=) c.*182C= (n.*182C=) c.687C= (p.Ile229=) | |
| 5 | g.159320316G>T | CA447510751 | IL12B | c.57C>A (p.Ile19=) c.*182C>A (n.*182C>A) c.687C>A (p.Ile229=) | |
| 5 | g.159320317A>C | CA362032235 | IL12B | c.56T>G (p.Ile19Ser) c.*181T>G (n.*181T>G) c.686T>G (p.Ile229Ser) | |
| 5 | g.159320317A>G | CA362032237 | IL12B | c.56T>C (p.Ile19Thr) c.*181T>C (n.*181T>C) c.686T>C (p.Ile229Thr) | |
| 5 | g.159320317A>T | CA362032240 | IL12B | c.56T>A (p.Ile19Asn) c.*181T>A (n.*181T>A) c.686T>A (p.Ile229Asn) | |
| 5 | g.159320318T>A | CA362032249 | IL12B | c.55A>T (p.Ile19Phe) c.*180A>T (n.*180A>T) c.685A>T (p.Ile229Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.159320318T>C | CA362032251 | IL12B | c.55A>G (p.Ile19Val) c.*180A>G (n.*180A>G) c.685A>G (p.Ile229Val) | |
| 5 | g.159320318T>G | CA362032244 | IL12B | c.55A>C (p.Ile19Leu) c.*180A>C (n.*180A>C) c.685A>C (p.Ile229Leu) | |
| 5 | g.159320318T= | CA1595017257 | IL12B | c.55A= (p.Ile19=) c.*180A= (n.*180A=) c.685A= (p.Ile229=) | |
| 5 | g.159320319G>A | CA447510758 | IL12B | c.54C>T (p.Phe18=) c.*179C>T (n.*179C>T) c.684C>T (p.Phe228=) | COSMIC COSMIC |
| 5 | g.159320319G>C | CA362032253 | IL12B | c.54C>G (p.Phe18Leu) c.*179C>G (n.*179C>G) c.684C>G (p.Phe228Leu) | |
| 5 | g.159320319G>T | CA362032256 | IL12B | c.54C>A (p.Phe18Leu) c.*179C>A (n.*179C>A) c.684C>A (p.Phe228Leu) | |
| 5 | g.159320320A>C | CA362032258 | IL12B | c.53T>G (p.Phe18Cys) c.*178T>G (n.*178T>G) c.683T>G (p.Phe228Cys) | |
| 5 | g.159320320A>G | CA362032260 | IL12B | c.53T>C (p.Phe18Ser) c.*178T>C (n.*178T>C) c.683T>C (p.Phe228Ser) | |
| 5 | g.159320320A>T | CA362032262 | IL12B | c.53T>A (p.Phe18Tyr) c.*178T>A (n.*178T>A) c.683T>A (p.Phe228Tyr) | |
| 5 | g.159320321A>C | CA362032272 | IL12B | c.52T>G (p.Phe18Val) c.*177T>G (n.*177T>G) c.682T>G (p.Phe228Val) | |
| 5 | g.159320321A>G | CA362032267 | IL12B | c.52T>C (p.Phe18Leu) c.*177T>C (n.*177T>C) c.682T>C (p.Phe228Leu) | |
| 5 | g.159320321A>T | CA362032270 | IL12B | c.52T>A (p.Phe18Ile) c.*177T>A (n.*177T>A) c.682T>A (p.Phe228Ile) | gnomAD v4 |
| 5 | g.159320322G>A | CA447510765 | IL12B | c.51C>T (p.Phe17=) c.*176C>T (n.*176C>T) c.681C>T (p.Phe227=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.159320322G>C | CA362032276 | IL12B | c.51C>G (p.Phe17Leu) c.*176C>G (n.*176C>G) c.681C>G (p.Phe227Leu) | |
| 5 | g.159320322G>T | CA362032279 | IL12B | c.51C>A (p.Phe17Leu) c.*176C>A (n.*176C>A) c.681C>A (p.Phe227Leu) | |
| 5 | g.159320323A>C | CA362032286 | IL12B | c.50T>G (p.Phe17Cys) c.*175T>G (n.*175T>G) c.680T>G (p.Phe227Cys) | |
| 5 | g.159320323A>G | CA362032287 | IL12B | c.50T>C (p.Phe17Ser) c.*175T>C (n.*175T>C) c.680T>C (p.Phe227Ser) | |
| 5 | g.159320323A>T | CA362032289 | IL12B | c.50T>A (p.Phe17Tyr) c.*175T>A (n.*175T>A) c.680T>A (p.Phe227Tyr) | |
| 5 | g.159320324A>C | CA362032298 | IL12B | c.49T>G (p.Phe17Val) c.*174T>G (n.*174T>G) c.679T>G (p.Phe227Val) | |
| 5 | g.159320324A>G | CA362032292 | IL12B | c.49T>C (p.Phe17Leu) c.*174T>C (n.*174T>C) c.679T>C (p.Phe227Leu) | |
| 5 | g.159320324A>T | CA362032295 | IL12B | c.49T>A (p.Phe17Ile) c.*174T>A (n.*174T>A) c.679T>A (p.Phe227Ile) | |
| 5 | g.159320325G>A | CA447510773 | IL12B | c.48C>T (p.Ser16=) c.*173C>T (n.*173C>T) c.678C>T (p.Ser226=) | gnomAD v4 |
| 5 | g.159320325G>C | CA3538747 | IL12B | c.48C>G (p.Ser16Arg) c.*173C>G (n.*173C>G) c.678C>G (p.Ser226Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.159320325G= | CA1595017258 | IL12B | c.48C= (p.Ser16=) c.*173C= (n.*173C=) c.678C= (p.Ser226=) | |
| 5 | g.159320325G>T | CA362032301 | IL12B | c.48C>A (p.Ser16Arg) c.*173C>A (n.*173C>A) c.678C>A (p.Ser226Arg) | |
| 5 | g.159320326C>A | CA362032302 | IL12B | c.47G>T (p.Ser16Ile) c.*172G>T (n.*172G>T) c.677G>T (p.Ser226Ile) | |
| 5 | g.159320326C= | CA1595017259 | IL12B | c.47G= (p.Ser16=) c.*172G= (n.*172G=) c.677G= (p.Ser226=) | |
| 5 | g.159320326C>G | CA362032303 | IL12B | c.47G>C (p.Ser16Thr) c.*172G>C (n.*172G>C) c.677G>C (p.Ser226Thr) | gnomAD v4 |
| 5 | g.159320326C>T | CA3538748 | IL12B | c.47G>A (p.Ser16Asn) c.*172G>A (n.*172G>A) c.677G>A (p.Ser226Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.159320327T>A | CA362032306 | IL12B | c.46A>T (p.Ser16Cys) c.*171A>T (n.*171A>T) c.676A>T (p.Ser226Cys) | |
| 5 | g.159320327T>C | CA362032307 | IL12B | c.46A>G (p.Ser16Gly) c.*171A>G (n.*171A>G) c.676A>G (p.Ser226Gly) | |
| 5 | g.159320327T>G | CA362032310 | IL12B | c.46A>C (p.Ser16Arg) c.*171A>C (n.*171A>C) c.676A>C (p.Ser226Arg) | |
| 5 | g.159320328G>A | CA447510782 | IL12B | c.45C>T (p.Ser15=) c.*170C>T (n.*170C>T) c.675C>T (p.Ser225=) | gnomAD v4 |
| 5 | g.159320328G>C | CA362032313 | IL12B | c.45C>G (p.Ser15Arg) c.*170C>G (n.*170C>G) c.675C>G (p.Ser225Arg) | |
| 5 | g.159320328G>T | CA362032323 | IL12B | c.45C>A (p.Ser15Arg) c.*170C>A (n.*170C>A) c.675C>A (p.Ser225Arg) | |
| 5 | g.159320329C>A | CA362032326 | IL12B | c.44G>T (p.Ser15Ile) c.*169G>T (n.*169G>T) c.674G>T (p.Ser225Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.159320329C= | CA1595017260 | IL12B | c.44G= (p.Ser15=) c.*169G= (n.*169G=) c.674G= (p.Ser225=) | |
| 5 | g.159320329C>G | CA362032328 | IL12B | c.44G>C (p.Ser15Thr) c.*169G>C (n.*169G>C) c.674G>C (p.Ser225Thr) | |
| 5 | g.159320329C>T | CA362032330 | IL12B | c.44G>A (p.Ser15Asn) c.*169G>A (n.*169G>A) c.674G>A (p.Ser225Asn) | gnomAD v4 |
| 5 | g.159320330T>A | CA362032334 | IL12B | c.43A>T (p.Ser15Cys) c.*168A>T (n.*168A>T) c.673A>T (p.Ser225Cys) | |
| 5 | g.159320330T>C | CA362032337 | IL12B | c.43A>G (p.Ser15Gly) c.*168A>G (n.*168A>G) c.673A>G (p.Ser225Gly) | |
| 5 | g.159320330T>G | CA362032336 | IL12B | c.43A>C (p.Ser15Arg) c.*168A>C (n.*168A>C) c.673A>C (p.Ser225Arg) | |
| 5 | g.159320331G>A | CA447510789 | IL12B | c.42C>T (p.Thr14=) c.*167C>T (n.*167C>T) c.672C>T (p.Thr224=) | |
| 5 | g.159320331G>C | CA447510790 | IL12B | c.42C>G (p.Thr14=) c.*167C>G (n.*167C>G) c.672C>G (p.Thr224=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.159320331G= | CA1595017261 | IL12B | c.42C= (p.Thr14=) c.*167C= (n.*167C=) c.672C= (p.Thr224=) | |
| 5 | g.159320331G>T | CA447510792 | IL12B | c.42C>A (p.Thr14=) c.*167C>A (n.*167C>A) c.672C>A (p.Thr224=) | gnomAD v4 |
| 5 | g.159320332G>A | CA362032340 | IL12B | c.41C>T (p.Thr14Ile) c.*166C>T (n.*166C>T) c.671C>T (p.Thr224Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.159320332G>C | CA362032342 | IL12B | c.41C>G (p.Thr14Ser) c.*166C>G (n.*166C>G) c.671C>G (p.Thr224Ser) | |
| 5 | g.159320332G= | CA1595017262 | IL12B | c.41C= (p.Thr14=) c.*166C= (n.*166C=) c.671C= (p.Thr224=) | |
| 5 | g.159320332G>T | CA362032346 | IL12B | c.41C>A (p.Thr14Asn) c.*166C>A (n.*166C>A) c.671C>A (p.Thr224Asn) | |
| 5 | g.159320333T>A | CA362032349 | IL12B | c.40A>T (p.Thr14Ser) c.*165A>T (n.*165A>T) c.670A>T (p.Thr224Ser) | |
| 5 | g.159320333T>C | CA362032350 | IL12B | c.40A>G (p.Thr14Ala) c.*165A>G (n.*165A>G) c.670A>G (p.Thr224Ala) | |
| 5 | g.159320333T>G | CA362032351 | IL12B | c.40A>C (p.Thr14Pro) c.*165A>C (n.*165A>C) c.670A>C (p.Thr224Pro) | |
| 5 | g.159320334G>A | CA3538749 | IL12B | c.39C>T (p.Tyr13=) c.*164C>T (n.*164C>T) c.669C>T (p.Tyr223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.159320334G>C | CA362032355 | IL12B | c.39C>G (p.Tyr13Ter) c.*164C>G (n.*164C>G) c.669C>G (p.Tyr223Ter) | |
| 5 | g.159320334G= | CA1595017263 | IL12B | c.39C= (p.Tyr13=) c.*164C= (n.*164C=) c.669C= (p.Tyr223=) | |
| 5 | g.159320334G>T | CA362032358 | IL12B | c.39C>A (p.Tyr13Ter) c.*164C>A (n.*164C>A) c.669C>A (p.Tyr223Ter) | |
| 5 | g.159320335T>A | CA362032360 | IL12B | c.38A>T (p.Tyr13Phe) c.*163A>T (n.*163A>T) c.668A>T (p.Tyr223Phe) | |
| 5 | g.159320335T>C | CA362032362 | IL12B | c.38A>G (p.Tyr13Cys) c.*163A>G (n.*163A>G) c.668A>G (p.Tyr223Cys) | |
| 5 | g.159320335T>G | CA362032363 | IL12B | c.38A>C (p.Tyr13Ser) c.*163A>C (n.*163A>C) c.668A>C (p.Tyr223Ser) | |
| 5 | g.159320336A>C | CA362032369 | IL12B | c.37T>G (p.Tyr13Asp) c.*162T>G (n.*162T>G) c.667T>G (p.Tyr223Asp) | |
| 5 | g.159320336A>G | CA362032368 | IL12B | c.37T>C (p.Tyr13His) c.*162T>C (n.*162T>C) c.667T>C (p.Tyr223His) | gnomAD v4 |
| 5 | g.159320336A>T | CA362032365 | IL12B | c.37T>A (p.Tyr13Asn) c.*162T>A (n.*162T>A) c.667T>A (p.Tyr223Asn) | |
| 5 | g.159320337G>A | CA447510807 | IL12B | c.36C>T (p.Asn12=) c.*161C>T (n.*161C>T) c.666C>T (p.Asn222=) | |
| 5 | g.159320337G>C | CA362032372 | IL12B | c.36C>G (p.Asn12Lys) c.*161C>G (n.*161C>G) c.666C>G (p.Asn222Lys) | |
| 5 | g.159320337G>T | CA362032375 | IL12B | c.36C>A (p.Asn12Lys) c.*161C>A (n.*161C>A) c.666C>A (p.Asn222Lys) | |
| 5 | g.159320338T>A | CA362032380 | IL12B | c.35A>T (p.Asn12Ile) c.*160A>T (n.*160A>T) c.665A>T (p.Asn222Ile) | |
| 5 | g.159320338T>C | CA362032382 | IL12B | c.35A>G (p.Asn12Ser) c.*160A>G (n.*160A>G) c.665A>G (p.Asn222Ser) | |
| 5 | g.159320338T>G | CA362032385 | IL12B | c.35A>C (p.Asn12Thr) c.*160A>C (n.*160A>C) c.665A>C (p.Asn222Thr) | |
| 5 | g.159320339T>A | CA362032388 | IL12B | c.34A>T (p.Asn12Tyr) c.*159A>T (n.*159A>T) c.664A>T (p.Asn222Tyr) | |
| 5 | g.159320339T>C | CA362032391 | IL12B | c.34A>G (p.Asn12Asp) c.*159A>G (n.*159A>G) c.664A>G (p.Asn222Asp) | |
| 5 | g.159320339T>G | CA362032392 | IL12B | c.34A>C (p.Asn12His) c.*159A>C (n.*159A>C) c.664A>C (p.Asn222His) | |
| 5 | g.159320340T>A | CA362032396 | IL12B | c.33A>T (p.Glu11Asp) c.*158A>T (n.*158A>T) c.663A>T (p.Glu221Asp) | |
| 5 | g.159320340T>C | CA447510816 | IL12B | c.33A>G (p.Glu11=) c.*158A>G (n.*158A>G) c.663A>G (p.Glu221=) | |
| 5 | g.159320340T>G | CA362032398 | IL12B | c.33A>C (p.Glu11Asp) c.*158A>C (n.*158A>C) c.663A>C (p.Glu221Asp) | |
| 5 | g.159320340_159320354delinsAATGCAGACGTTATCGA | CA2695205605 | IL12B | c.19_33delinsTCGATAACGTCTGCATT (p.Lys7SerfsTer28) c.*144_*158delinsTCGATAACGTCTGCATT (n.*144_*158delinsTCGATAACGTCTGCATT) c.649_663delinsTCGATAACGTCTGCATT (p.Lys217SerfsTer28) | |
| 5 | g.159320341T>A | CA362032401 | IL12B | c.32A>T (p.Glu11Val) c.*157A>T (n.*157A>T) c.662A>T (p.Glu221Val) | |
| 5 | g.159320341T>C | CA362032402 | IL12B | c.32A>G (p.Glu11Gly) c.*157A>G (n.*157A>G) c.662A>G (p.Glu221Gly) | |
| 5 | g.159320341T>G | CA362032403 | IL12B | c.32A>C (p.Glu11Ala) c.*157A>C (n.*157A>C) c.662A>C (p.Glu221Ala) | |
| 5 | g.159320342C>A | CA362032408 | IL12B | c.31G>T (p.Glu11Ter) c.*156G>T (n.*156G>T) c.661G>T (p.Glu221Ter) | |
| 5 | g.159320342C>G | CA362032409 | IL12B | c.31G>C (p.Glu11Gln) c.*156G>C (n.*156G>C) c.661G>C (p.Glu221Gln) | |
| 5 | g.159320342C>T | CA362032405 | IL12B | c.31G>A (p.Glu11Lys) c.*156G>A (n.*156G>A) c.661G>A (p.Glu221Lys) | |
| 5 | g.159320343A= | CA1595017264 | IL12B | c.30T= (p.Tyr10=) c.*155T= (n.*155T=) c.660T= (p.Tyr220=) | |
| 5 | g.159320343A>C | CA362032412 | IL12B | c.30T>G (p.Tyr10Ter) c.*155T>G (n.*155T>G) c.660T>G (p.Tyr220Ter) | |
| 5 | g.159320343A>G | CA447510824 | IL12B | c.30T>C (p.Tyr10=) c.*155T>C (n.*155T>C) c.660T>C (p.Tyr220=) | dbSNP |
| 5 | g.159320343A>T | CA3538750 | IL12B | c.30T>A (p.Tyr10Ter) c.*155T>A (n.*155T>A) c.660T>A (p.Tyr220Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.159320343_159320353delinsCCATCTGG | CA2695205606 | IL12B | c.20_30delinsCCAGATGG (p.Lys7_Tyr10delinsThrArgTrp) c.*145_*155delinsCCAGATGG (n.*145_*155delinsCCAGATGG) c.650_660delinsCCAGATGG (p.Lys217_Tyr220delinsThrArgTrp) | |
| 5 | g.159320344T>A | CA362032422 | IL12B | c.29A>T (p.Tyr10Phe) c.*154A>T (n.*154A>T) c.659A>T (p.Tyr220Phe) | |
| 5 | g.159320344T>C | CA362032415 | IL12B | c.29A>G (p.Tyr10Cys) c.*154A>G (n.*154A>G) c.659A>G (p.Tyr220Cys) | gnomAD v4 |
| 5 | g.159320344T>G | CA362032419 | IL12B | c.29A>C (p.Tyr10Ser) c.*154A>C (n.*154A>C) c.659A>C (p.Tyr220Ser) | |
| 5 | g.159320345A>C | CA362032424 | IL12B | c.28T>G (p.Tyr10Asp) c.*153T>G (n.*153T>G) c.658T>G (p.Tyr220Asp) | |
| 5 | g.159320345A>G | CA362032426 | IL12B | c.28T>C (p.Tyr10His) c.*153T>C (n.*153T>C) c.658T>C (p.Tyr220His) | |
| 5 | g.159320345A>T | CA362032428 | IL12B | c.28T>A (p.Tyr10Asn) c.*153T>A (n.*153T>A) c.658T>A (p.Tyr220Asn) | |
| 5 | g.159320346C>A | CA362032430 | IL12B | c.27G>T (p.Lys9Asn) c.*152G>T (n.*152G>T) c.657G>T (p.Lys219Asn) | |
| 5 | g.159320346C>G | CA362032431 | IL12B | c.27G>C (p.Lys9Asn) c.*152G>C (n.*152G>C) c.657G>C (p.Lys219Asn) | |
| 5 | g.159320346C>T | CA447510836 | IL12B | c.27G>A (p.Lys9=) c.*152G>A (n.*152G>A) c.657G>A (p.Lys219=) | |
| 5 | g.159320347T>A | CA362032434 | IL12B | c.26A>T (p.Lys9Met) c.*151A>T (n.*151A>T) c.656A>T (p.Lys219Met) | gnomAD v4 |
| 5 | g.159320347T>C | CA362032436 | IL12B | c.26A>G (p.Lys9Arg) c.*151A>G (n.*151A>G) c.656A>G (p.Lys219Arg) | gnomAD v4 |
| 5 | g.159320347T>G | CA362032437 | IL12B | c.26A>C (p.Lys9Thr) c.*151A>C (n.*151A>C) c.656A>C (p.Lys219Thr) | |
| 5 | g.159320348T>A | CA362032443 | IL12B | c.25A>T (p.Lys9Ter) c.*150A>T (n.*150A>T) c.655A>T (p.Lys219Ter) | |
| 5 | g.159320348T>C | CA362032442 | IL12B | c.25A>G (p.Lys9Glu) c.*150A>G (n.*150A>G) c.655A>G (p.Lys219Glu) | |
| 5 | g.159320348T>G | CA362032440 | IL12B | c.25A>C (p.Lys9Gln) c.*150A>C (n.*150A>C) c.655A>C (p.Lys219Gln) | |
| 5 | g.159320349G>A | CA447510842 | IL12B | c.24C>T (p.Leu8=) c.*149C>T (n.*149C>T) c.654C>T (p.Leu218=) | |
| 5 | g.159320349G>C | CA447510843 | IL12B | c.24C>G (p.Leu8=) c.*149C>G (n.*149C>G) c.654C>G (p.Leu218=) | |
| 5 | g.159320349G>T | CA447510845 | IL12B | c.24C>A (p.Leu8=) c.*149C>A (n.*149C>A) c.654C>A (p.Leu218=) | |
| 5 | g.159320350A>C | CA362032446 | IL12B | c.23T>G (p.Leu8Arg) c.*148T>G (n.*148T>G) c.653T>G (p.Leu218Arg) | |
| 5 | g.159320350A>G | CA362032447 | IL12B | c.23T>C (p.Leu8Pro) c.*148T>C (n.*148T>C) c.653T>C (p.Leu218Pro) | |
| 5 | g.159320350A>T | CA362032449 | IL12B | c.23T>A (p.Leu8His) c.*148T>A (n.*148T>A) c.653T>A (p.Leu218His) | |
| 5 | g.159320351G>A | CA362032452 | IL12B | c.22C>T (p.Leu8Phe) c.*147C>T (n.*147C>T) c.652C>T (p.Leu218Phe) | |
| 5 | g.159320351G>C | CA362032453 | IL12B | c.22C>G (p.Leu8Val) c.*147C>G (n.*147C>G) c.652C>G (p.Leu218Val) | |
| 5 | g.159320351G>T | CA362032455 | IL12B | c.22C>A (p.Leu8Ile) c.*147C>A (n.*147C>A) c.652C>A (p.Leu218Ile) | |
| 5 | g.159320352C>A | CA362032458 | IL12B | c.21G>T (p.Lys7Asn) c.*146G>T (n.*146G>T) c.651G>T (p.Lys217Asn) | |
| 5 | g.159320352C= | CA1595017265 | IL12B | c.21G= (p.Lys7=) c.*146G= (n.*146G=) c.651G= (p.Lys217=) | |
| 5 | g.159320352C>G | CA362032459 | IL12B | c.21G>C (p.Lys7Asn) c.*146G>C (n.*146G>C) c.651G>C (p.Lys217Asn) | |
| 5 | g.159320352C>T | CA3538751 | IL12B | c.21G>A (p.Lys7=) c.*146G>A (n.*146G>A) c.651G>A (p.Lys217=) | dbSNP ExAC gnomAD v2 |
| 5 | g.159320353T>A | CA362032462 | IL12B | c.20A>T (p.Lys7Met) c.*145A>T (n.*145A>T) c.650A>T (p.Lys217Met) | |
| 5 | g.159320353T>C | CA362032463 | IL12B | c.20A>G (p.Lys7Arg) c.*145A>G (n.*145A>G) c.650A>G (p.Lys217Arg) | gnomAD v4 |
| 5 | g.159320353T>G | CA362032466 | IL12B | c.20A>C (p.Lys7Thr) c.*145A>C (n.*145A>C) c.650A>C (p.Lys217Thr) | |
| 5 | g.159320354T>A | CA362032469 | IL12B | c.19A>T (p.Lys7Ter) c.*144A>T (n.*144A>T) c.649A>T (p.Lys217Ter) | |
| 5 | g.159320354T>C | CA362032471 | IL12B | c.19A>G (p.Lys7Glu) c.*144A>G (n.*144A>G) c.649A>G (p.Lys217Glu) | |
| 5 | g.159320354T>G | CA362032468 | IL12B | c.19A>C (p.Lys7Gln) c.*144A>C (n.*144A>C) c.649A>C (p.Lys217Gln) | |
| 5 | g.159320355G>A | CA447510860 | IL12B | c.18C>T (p.His6=) c.*143C>T (n.*143C>T) c.648C>T (p.His216=) | |
| 5 | g.159320355G>C | CA362032472 | IL12B | c.18C>G (p.His6Gln) c.*143C>G (n.*143C>G) c.648C>G (p.His216Gln) | |
| 5 | g.159320355G>T | CA362032474 | IL12B | c.18C>A (p.His6Gln) c.*143C>A (n.*143C>A) c.648C>A (p.His216Gln) | |
| 5 | g.159320356T>A | CA362032476 | IL12B | c.17A>T (p.His6Leu) c.*142A>T (n.*142A>T) c.647A>T (p.His216Leu) | gnomAD v3 gnomAD v4 |
| 5 | g.159320356T>C | CA362032477 | IL12B | c.17A>G (p.His6Arg) c.*142A>G (n.*142A>G) c.647A>G (p.His216Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.159320356T>G | CA362032479 | IL12B | c.17A>C (p.His6Pro) c.*142A>C (n.*142A>C) c.647A>C (p.His216Pro) | |
| 5 | g.159320356T= | CA1595017266 | IL12B | c.17A= (p.His6=) c.*142A= (n.*142A=) c.647A= (p.His216=) | |
| 5 | g.159320357G>A | CA362032481 | IL12B | c.16C>T (p.His6Tyr) c.*141C>T (n.*141C>T) c.646C>T (p.His216Tyr) | |
| 5 | g.159320357G>C | CA362032482 | IL12B | c.16C>G (p.His6Asp) c.*141C>G (n.*141C>G) c.646C>G (p.His216Asp) | |
| 5 | g.159320357G>T | CA362032484 | IL12B | c.16C>A (p.His6Asn) c.*141C>A (n.*141C>A) c.646C>A (p.His216Asn) | |
| 5 | g.159320358A>C | CA447510871 | IL12B | c.15T>G (p.Val5=) c.*140T>G (n.*140T>G) c.645T>G (p.Val215=) | |
| 5 | g.159320358A>G | CA447510869 | IL12B | c.15T>C (p.Val5=) c.*140T>C (n.*140T>C) c.645T>C (p.Val215=) | |
| 5 | g.159320358A>T | CA447510867 | IL12B | c.15T>A (p.Val5=) c.*140T>A (n.*140T>A) c.645T>A (p.Val215=) | |
| 5 | g.159320359A>C | CA362032486 | IL12B | c.14T>G (p.Val5Gly) c.*139T>G (n.*139T>G) c.644T>G (p.Val215Gly) | |
| 5 | g.159320359A>G | CA362032488 | IL12B | c.14T>C (p.Val5Ala) c.*139T>C (n.*139T>C) c.644T>C (p.Val215Ala) | gnomAD v4 |
| 5 | g.159320359A>T | CA362032489 | IL12B | c.14T>A (p.Val5Asp) c.*139T>A (n.*139T>A) c.644T>A (p.Val215Asp) |