| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.67259126T>A | CA340730215 | IL23R | c.1798T>A (p.Ter600Lys) c.1585T>A (p.Ter529Lys) c.1888T>A (p.Ter630Lys) c.1279T>A (p.Ter427Lys) c.682T>A (p.Ter228Lys) c.1123T>A (p.Ter375Lys) c.*714T>A (n.*714T>A) c.1126T>A (p.Ter376Lys) c.1978T>A (p.Ter660Lys) | |
| 1 | g.67259126T>C | CA900068 | IL23R | c.1798T>C (p.Ter600Gln) c.1585T>C (p.Ter529Gln) c.1888T>C (p.Ter630Gln) c.1279T>C (p.Ter427Gln) c.682T>C (p.Ter228Gln) c.1123T>C (p.Ter375Gln) c.*714T>C (n.*714T>C) c.1126T>C (p.Ter376Gln) c.1978T>C (p.Ter660Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.67259126T>G | CA340730218 | IL23R | c.1798T>G (p.Ter600Glu) c.1585T>G (p.Ter529Glu) c.1888T>G (p.Ter630Glu) c.1279T>G (p.Ter427Glu) c.682T>G (p.Ter228Glu) c.1123T>G (p.Ter375Glu) c.*714T>G (n.*714T>G) c.1126T>G (p.Ter376Glu) c.1978T>G (p.Ter660Glu) | |
| 1 | g.67259126T= | CA1173064356 | IL23R | c.1798T= (p.Ter600=) c.1585T= (p.Ter529=) c.1888T= (p.Ter630=) c.1279T= (p.Ter427=) c.682T= (p.Ter228=) c.1123T= (p.Ter375=) c.*714T= (n.*714T=) c.1126T= (p.Ter376=) c.1978T= (p.Ter660=) | dbSNP |
| 1 | g.67259127A>C | CA340730219 | IL23R | c.1799A>C (p.Ter600Ser) c.1586A>C (p.Ter529Ser) c.1889A>C (p.Ter630Ser) c.1280A>C (p.Ter427Ser) c.683A>C (p.Ter228Ser) c.1124A>C (p.Ter375Ser) c.*715A>C (n.*715A>C) c.1127A>C (p.Ter376Ser) c.1979A>C (p.Ter660Ser) | |
| 1 | g.67259127A>G | CA340730221 | IL23R | c.1799A>G (p.Ter600Trp) c.1586A>G (p.Ter529Trp) c.1889A>G (p.Ter630Trp) c.1280A>G (p.Ter427Trp) c.683A>G (p.Ter228Trp) c.1124A>G (p.Ter375Trp) c.*715A>G (n.*715A>G) c.1127A>G (p.Ter376Trp) c.1979A>G (p.Ter660Trp) | |
| 1 | g.67259127A>T | CA340730234 | IL23R | c.1799A>T (p.Ter600Leu) c.1586A>T (p.Ter529Leu) c.1889A>T (p.Ter630Leu) c.1280A>T (p.Ter427Leu) c.683A>T (p.Ter228Leu) c.1124A>T (p.Ter375Leu) c.*715A>T (n.*715A>T) c.1127A>T (p.Ter376Leu) c.1979A>T (p.Ter660Leu) | |
| 1 | g.67259128G>A | CA418438842 | IL23R | c.1800G>A (p.Ter600=) c.1587G>A (p.Ter529=) c.1890G>A (p.Ter630=) c.1281G>A (p.Ter427=) c.684G>A (p.Ter228=) c.1125G>A (p.Ter375=) c.*716G>A (n.*716G>A) c.1128G>A (p.Ter376=) c.1980G>A (p.Ter660=) | |
| 1 | g.67259128G>C | CA340730244 | IL23R | c.1800G>C (p.Ter600Tyr) c.1587G>C (p.Ter529Tyr) c.1890G>C (p.Ter630Tyr) c.1281G>C (p.Ter427Tyr) c.684G>C (p.Ter228Tyr) c.1125G>C (p.Ter375Tyr) c.*716G>C (n.*716G>C) c.1128G>C (p.Ter376Tyr) c.1980G>C (p.Ter660Tyr) | |
| 1 | g.67259128G>T | CA340730246 | IL23R | c.1800G>T (p.Ter600Tyr) c.1587G>T (p.Ter529Tyr) c.1890G>T (p.Ter630Tyr) c.1281G>T (p.Ter427Tyr) c.684G>T (p.Ter228Tyr) c.1125G>T (p.Ter375Tyr) c.*716G>T (n.*716G>T) c.1128G>T (p.Ter376Tyr) c.1980G>T (p.Ter660Tyr) | |
| 1 | g.67259130G>A | CA2646125926 | IL23R | c.*2G>A (n.*2G>A) c.*718G>A (n.*718G>A) | dbSNP gnomAD v4 |
| 1 | g.67259130G= | CA3081745149 | IL23R | c.*2G= (n.*2G=) c.*718G= (n.*718G=) | dbSNP |
| 1 | g.67259130dup | CA646111781 | IL23R | c.*2dup (n.*2dup) c.*718dup (n.*718dup) | COSMIC |
| 1 | g.67259131C>A | CA2646125927 | IL23R | c.*3C>A (n.*3C>A) c.*719C>A (n.*719C>A) | gnomAD v4 |
| 1 | g.67259131C= | CA1173064357 | IL23R | c.*3C= (n.*3C=) c.*719C= (n.*719C=) | dbSNP |
| 1 | g.67259131C>G | CA900069 | IL23R | c.*3C>G (n.*3C>G) c.*719C>G (n.*719C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.67259131C>T | CA2646125928 | IL23R | c.*3C>T (n.*3C>T) c.*719C>T (n.*719C>T) | dbSNP gnomAD v4 |
| 1 | g.67259132T>C | CA23506700 | IL23R | c.*4T>C (n.*4T>C) c.*720T>C (n.*720T>C) | dbSNP |
| 1 | g.67259132T>G | CA900070 | IL23R | c.*4T>G (n.*4T>G) c.*720T>G (n.*720T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.67259132T= | CA1173064358 | IL23R | c.*4T= (n.*4T=) c.*720T= (n.*720T=) | dbSNP |
| 1 | g.67259134T>G | CA2518236345 | IL23R | c.*6T>G (n.*6T>G) c.*722T>G (n.*722T>G) | |
| 1 | g.67259136T>G | CA2646125929 | IL23R | c.*8T>G (n.*8T>G) c.*724T>G (n.*724T>G) | dbSNP gnomAD v4 |
| 1 | g.67259136T= | CA3081745153 | IL23R | c.*8T= (n.*8T=) c.*724T= (n.*724T=) | dbSNP |
| 1 | g.67259138G>C | CA2646125930 | IL23R | c.*10G>C (n.*10G>C) c.*726G>C (n.*726G>C) | dbSNP gnomAD v4 |
| 1 | g.67259138G= | CA3081745154 | IL23R | c.*10G= (n.*10G=) c.*726G= (n.*726G=) | dbSNP |
| 1 | g.67259139T>C | CA523607591 | IL23R | c.*11T>C (n.*11T>C) c.*727T>C (n.*727T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.67259139T= | CA1173064359 | IL23R | c.*11T= (n.*11T=) c.*727T= (n.*727T=) | dbSNP |
| 1 | g.67259140C>A | CA2646125931 | IL23R | c.*12C>A (n.*12C>A) c.*728C>A (n.*728C>A) | dbSNP gnomAD v4 |
| 1 | g.67259140C= | CA3081745159 | IL23R | c.*12C= (n.*12C=) c.*728C= (n.*728C=) | dbSNP |
| 1 | g.67259140C>G | CA2991933730 | IL23R | c.*12C>G (n.*12C>G) c.*728C>G (n.*728C>G) | |
| 1 | g.67259144dup | CA2991933733 | IL23R | c.*16dup (n.*16dup) c.*732dup (n.*732dup) | |
| 1 | g.67259144del | CA2991933732 | IL23R | c.*16del (n.*16del) c.*732del (n.*732del) | |
| 1 | g.67259145T>A | CA2581674038 | IL23R | c.*17T>A (n.*17T>A) c.*733T>A (n.*733T>A) | |
| 1 | g.67259145T>C | CA23506714 | IL23R | c.*17T>C (n.*17T>C) c.*733T>C (n.*733T>C) | dbSNP |
| 1 | g.67259145T>G | CA900071 | IL23R | c.*17T>G (n.*17T>G) c.*733T>G (n.*733T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.67259145T= | CA1140262000 | IL23R | c.*17T= (n.*17T=) c.*733T= (n.*733T=) | dbSNP |
| 1 | g.67259146C>A | CA2646125932 | IL23R | c.*18C>A (n.*18C>A) c.*734C>A (n.*734C>A) | dbSNP gnomAD v4 |
| 1 | g.67259146C= | CA3081745162 | IL23R | c.*18C= (n.*18C=) c.*734C= (n.*734C=) | dbSNP |
| 1 | g.67259147_67259154delinsAATATGAG | CA1173064360 | IL23R | c.*19_*26delinsAATATGAG (n.*19_*26delinsAATATGAG) c.*735_*742delinsAATATGAG (n.*735_*742delinsAATATGAG) | |
| 1 | g.67259148A= | CA1173064361 | IL23R | c.*20A= (n.*20A=) c.*736A= (n.*736A=) | dbSNP |
| 1 | g.67259148A>G | CA900073 | IL23R | c.*20A>G (n.*20A>G) c.*736A>G (n.*736A>G) | dbSNP ExAC gnomAD v2 |
| 1 | g.67259150_67259151del | CA2646125933 | IL23R | c.*22_*23del (n.*22_*23del) c.*738_*739del (n.*738_*739del) | dbSNP gnomAD v4 |
| 1 | g.67259149_67259155del | CA900072 | IL23R | c.*21_*27del (n.*21_*27del) c.*737_*743del (n.*737_*743del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.67259149T>C | CA23506721 | IL23R | c.*21T>C (n.*21T>C) c.*737T>C (n.*737T>C) | dbSNP gnomAD v4 |
| 1 | g.67259149T= | CA1173064362 | IL23R | c.*21T= (n.*21T=) c.*737T= (n.*737T=) | dbSNP |
| 1 | g.67259150A= | CA3073170728 | IL23R | c.*22A= (n.*22A=) c.*738A= (n.*738A=) | dbSNP |
| 1 | g.67259150dup | CA1173064363 | IL23R | c.*22dup (n.*22dup) c.*738dup (n.*738dup) | dbSNP |
| 1 | g.67259151T>C | CA1002754251 | IL23R | c.*23T>C (n.*23T>C) c.*739T>C (n.*739T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.67259151T= | CA1173064364 | IL23R | c.*23T= (n.*23T=) c.*739T= (n.*739T=) | dbSNP |
| 1 | g.67259152G>A | CA2574401485 | IL23R | c.*24G>A (n.*24G>A) c.*740G>A (n.*740G>A) |