| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.137206179T>A | CA365775676 | IFNGR1 | c.300A>T (p.Glu100Asp) c.228A>T (p.Glu76Asp) c.207A>T (p.Glu69Asp) c.330A>T (p.Glu110Asp) c.*229A>T (n.*229A>T) c.276A>T (p.Glu92Asp) c.246A>T (p.Glu82Asp) c.273A>T (p.Glu91Asp) c.450A>T (n.450A>T) c.439A>T | |
| 6 | g.137206179T>C | CA452236904 | IFNGR1 | c.300A>G (p.Glu100=) c.228A>G (p.Glu76=) c.207A>G (p.Glu69=) c.330A>G (p.Glu110=) c.*229A>G (n.*229A>G) c.276A>G (p.Glu92=) c.246A>G (p.Glu82=) c.273A>G (p.Glu91=) c.450A>G (n.450A>G) c.439A>G | |
| 6 | g.137206179T>G | CA365775677 | IFNGR1 | c.300A>C (p.Glu100Asp) c.228A>C (p.Glu76Asp) c.207A>C (p.Glu69Asp) c.330A>C (p.Glu110Asp) c.*229A>C (n.*229A>C) c.276A>C (p.Glu92Asp) c.246A>C (p.Glu82Asp) c.273A>C (p.Glu91Asp) c.450A>C (n.450A>C) c.439A>C | |
| 6 | g.137206180T>A | CA365775678 | IFNGR1 | c.299A>T (p.Glu100Val) c.227A>T (p.Glu76Val) c.206A>T (p.Glu69Val) c.329A>T (p.Glu110Val) c.*228A>T (n.*228A>T) c.275A>T (p.Glu92Val) c.245A>T (p.Glu82Val) c.272A>T (p.Glu91Val) c.449A>T (n.449A>T) c.438A>T | |
| 6 | g.137206180T>C | CA365775679 | IFNGR1 | c.299A>G (p.Glu100Gly) c.227A>G (p.Glu76Gly) c.206A>G (p.Glu69Gly) c.329A>G (p.Glu110Gly) c.*228A>G (n.*228A>G) c.275A>G (p.Glu92Gly) c.245A>G (p.Glu82Gly) c.272A>G (p.Glu91Gly) c.449A>G (n.449A>G) c.438A>G | |
| 6 | g.137206180T>G | CA365775680 | IFNGR1 | c.299A>C (p.Glu100Ala) c.227A>C (p.Glu76Ala) c.206A>C (p.Glu69Ala) c.329A>C (p.Glu110Ala) c.*228A>C (n.*228A>C) c.275A>C (p.Glu92Ala) c.245A>C (p.Glu82Ala) c.272A>C (p.Glu91Ala) c.449A>C (n.449A>C) c.438A>C | gnomAD v4 |
| 6 | g.137206181C>A | CA365775683 | IFNGR1 | c.298G>T (p.Glu100Ter) c.226G>T (p.Glu76Ter) c.205G>T (p.Glu69Ter) c.328G>T (p.Glu110Ter) c.*227G>T (n.*227G>T) c.274G>T (p.Glu92Ter) c.244G>T (p.Glu82Ter) c.271G>T (p.Glu91Ter) c.448G>T (n.448G>T) c.437G>T | COSMIC |
| 6 | g.137206181C>G | CA365775682 | IFNGR1 | c.298G>C (p.Glu100Gln) c.226G>C (p.Glu76Gln) c.205G>C (p.Glu69Gln) c.328G>C (p.Glu110Gln) c.*227G>C (n.*227G>C) c.274G>C (p.Glu92Gln) c.244G>C (p.Glu82Gln) c.271G>C (p.Glu91Gln) c.448G>C (n.448G>C) c.437G>C | |
| 6 | g.137206181C>T | CA365775681 | IFNGR1 | c.298G>A (p.Glu100Lys) c.226G>A (p.Glu76Lys) c.205G>A (p.Glu69Lys) c.328G>A (p.Glu110Lys) c.*227G>A (n.*227G>A) c.274G>A (p.Glu92Lys) c.244G>A (p.Glu82Lys) c.271G>A (p.Glu91Lys) c.448G>A (n.448G>A) c.437G>A | COSMIC COSMIC |
| 6 | g.137206182T>A | CA365775684 | IFNGR1 | c.297A>T (p.Lys99Asn) c.225A>T (p.Lys75Asn) c.204A>T (p.Lys68Asn) c.327A>T (p.Lys109Asn) c.*226A>T (n.*226A>T) c.273A>T (p.Lys91Asn) c.243A>T (p.Lys81Asn) c.270A>T (p.Lys90Asn) c.447A>T (n.447A>T) c.436A>T | |
| 6 | g.137206182T>C | CA452236905 | IFNGR1 | c.297A>G (p.Lys99=) c.225A>G (p.Lys75=) c.204A>G (p.Lys68=) c.327A>G (p.Lys109=) c.*226A>G (n.*226A>G) c.273A>G (p.Lys91=) c.243A>G (p.Lys81=) c.270A>G (p.Lys90=) c.447A>G (n.447A>G) c.436A>G | |
| 6 | g.137206182T>G | CA365775685 | IFNGR1 | c.297A>C (p.Lys99Asn) c.225A>C (p.Lys75Asn) c.204A>C (p.Lys68Asn) c.327A>C (p.Lys109Asn) c.*226A>C (n.*226A>C) c.273A>C (p.Lys91Asn) c.243A>C (p.Lys81Asn) c.270A>C (p.Lys90Asn) c.447A>C (n.447A>C) c.436A>C | |
| 6 | g.137206183T>A | CA365775686 | IFNGR1 | c.296A>T (p.Lys99Ile) c.224A>T (p.Lys75Ile) c.203A>T (p.Lys68Ile) c.326A>T (p.Lys109Ile) c.*225A>T (n.*225A>T) c.272A>T (p.Lys91Ile) c.242A>T (p.Lys81Ile) c.269A>T (p.Lys90Ile) c.446A>T (n.446A>T) c.435A>T | |
| 6 | g.137206183T>C | CA4018995 | IFNGR1 | c.296A>G (p.Lys99Arg) c.224A>G (p.Lys75Arg) c.203A>G (p.Lys68Arg) c.326A>G (p.Lys109Arg) c.*225A>G (n.*225A>G) c.272A>G (p.Lys91Arg) c.242A>G (p.Lys81Arg) c.269A>G (p.Lys90Arg) c.446A>G (n.446A>G) c.435A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.137206183T>G | CA365775687 | IFNGR1 | c.296A>C (p.Lys99Thr) c.224A>C (p.Lys75Thr) c.203A>C (p.Lys68Thr) c.326A>C (p.Lys109Thr) c.*225A>C (n.*225A>C) c.272A>C (p.Lys91Thr) c.242A>C (p.Lys81Thr) c.269A>C (p.Lys90Thr) c.446A>C (n.446A>C) c.435A>C | |
| 6 | g.137206183T= | CA1666386029 | IFNGR1 | c.296A= (p.Lys99=) c.224A= (p.Lys75=) c.203A= (p.Lys68=) c.326A= (p.Lys109=) c.*225A= (n.*225A=) c.272A= (p.Lys91=) c.242A= (p.Lys81=) c.269A= (p.Lys90=) c.446A= (n.446A=) c.435A= | |
| 6 | g.137206184T>A | CA365775688 | IFNGR1 | c.295A>T (p.Lys99Ter) c.223A>T (p.Lys75Ter) c.202A>T (p.Lys68Ter) c.325A>T (p.Lys109Ter) c.*224A>T (n.*224A>T) c.271A>T (p.Lys91Ter) c.241A>T (p.Lys81Ter) c.268A>T (p.Lys90Ter) c.445A>T (n.445A>T) c.434A>T | |
| 6 | g.137206184T>C | CA4018996 | IFNGR1 | c.295A>G (p.Lys99Glu) c.223A>G (p.Lys75Glu) c.202A>G (p.Lys68Glu) c.325A>G (p.Lys109Glu) c.*224A>G (n.*224A>G) c.271A>G (p.Lys91Glu) c.241A>G (p.Lys81Glu) c.268A>G (p.Lys90Glu) c.445A>G (n.445A>G) c.434A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137206184T>G | CA365775689 | IFNGR1 | c.295A>C (p.Lys99Gln) c.223A>C (p.Lys75Gln) c.202A>C (p.Lys68Gln) c.325A>C (p.Lys109Gln) c.*224A>C (n.*224A>C) c.271A>C (p.Lys91Gln) c.241A>C (p.Lys81Gln) c.268A>C (p.Lys90Gln) c.445A>C (n.445A>C) c.434A>C | |
| 6 | g.137206184T= | CA1666386030 | IFNGR1 | c.295A= (p.Lys99=) c.223A= (p.Lys75=) c.202A= (p.Lys68=) c.325A= (p.Lys109=) c.*224A= (n.*224A=) c.271A= (p.Lys91=) c.241A= (p.Lys81=) c.268A= (p.Lys90=) c.445A= (n.445A=) c.434A= | |
| 6 | g.137206185T>A | CA365775690 | IFNGR1 | c.294A>T (p.Gln98His) c.222A>T (p.Gln74His) c.201A>T (p.Gln67His) c.324A>T (p.Gln108His) c.*223A>T (n.*223A>T) c.270A>T (p.Gln90His) c.240A>T (p.Gln80His) c.267A>T (p.Gln89His) c.444A>T (n.444A>T) c.433A>T | |
| 6 | g.137206185T>C | CA452236906 | IFNGR1 | c.294A>G (p.Gln98=) c.222A>G (p.Gln74=) c.201A>G (p.Gln67=) c.324A>G (p.Gln108=) c.*223A>G (n.*223A>G) c.270A>G (p.Gln90=) c.240A>G (p.Gln80=) c.267A>G (p.Gln89=) c.444A>G (n.444A>G) c.433A>G | |
| 6 | g.137206185T>G | CA365775691 | IFNGR1 | c.294A>C (p.Gln98His) c.222A>C (p.Gln74His) c.201A>C (p.Gln67His) c.324A>C (p.Gln108His) c.*223A>C (n.*223A>C) c.270A>C (p.Gln90His) c.240A>C (p.Gln80His) c.267A>C (p.Gln89His) c.444A>C (n.444A>C) c.433A>C | |
| 6 | g.137206186T>A | CA365775692 | IFNGR1 | c.293A>T (p.Gln98Leu) c.221A>T (p.Gln74Leu) c.200A>T (p.Gln67Leu) c.323A>T (p.Gln108Leu) c.*222A>T (n.*222A>T) c.269A>T (p.Gln90Leu) c.239A>T (p.Gln80Leu) c.266A>T (p.Gln89Leu) c.443A>T (n.443A>T) c.432A>T | |
| 6 | g.137206186T>C | CA365775693 | IFNGR1 | c.293A>G (p.Gln98Arg) c.221A>G (p.Gln74Arg) c.200A>G (p.Gln67Arg) c.323A>G (p.Gln108Arg) c.*222A>G (n.*222A>G) c.269A>G (p.Gln90Arg) c.239A>G (p.Gln80Arg) c.266A>G (p.Gln89Arg) c.443A>G (n.443A>G) c.432A>G | |
| 6 | g.137206186T>G | CA365775694 | IFNGR1 | c.293A>C (p.Gln98Pro) c.221A>C (p.Gln74Pro) c.200A>C (p.Gln67Pro) c.323A>C (p.Gln108Pro) c.*222A>C (n.*222A>C) c.269A>C (p.Gln90Pro) c.239A>C (p.Gln80Pro) c.266A>C (p.Gln89Pro) c.443A>C (n.443A>C) c.432A>C | |
| 6 | g.137206187G>A | CA365775697 | IFNGR1 | c.292C>T (p.Gln98Ter) c.220C>T (p.Gln74Ter) c.199C>T (p.Gln67Ter) c.322C>T (p.Gln108Ter) c.*221C>T (n.*221C>T) c.268C>T (p.Gln90Ter) c.238C>T (p.Gln80Ter) c.265C>T (p.Gln89Ter) c.442C>T (n.442C>T) c.431C>T | |
| 6 | g.137206187G>C | CA365775695 | IFNGR1 | c.292C>G (p.Gln98Glu) c.220C>G (p.Gln74Glu) c.199C>G (p.Gln67Glu) c.322C>G (p.Gln108Glu) c.*221C>G (n.*221C>G) c.268C>G (p.Gln90Glu) c.238C>G (p.Gln80Glu) c.265C>G (p.Gln89Glu) c.442C>G (n.442C>G) c.431C>G | |
| 6 | g.137206187G>T | CA365775696 | IFNGR1 | c.292C>A (p.Gln98Lys) c.220C>A (p.Gln74Lys) c.199C>A (p.Gln67Lys) c.322C>A (p.Gln108Lys) c.*221C>A (n.*221C>A) c.268C>A (p.Gln90Lys) c.238C>A (p.Gln80Lys) c.265C>A (p.Gln89Lys) c.442C>A (n.442C>A) c.431C>A | |
| 6 | g.137206188T>A | CA4018997 | IFNGR1 | c.291A>T (p.Gly97=) c.219A>T (p.Gly73=) c.198A>T (p.Gly66=) c.321A>T (p.Gly107=) c.*220A>T (n.*220A>T) c.267A>T (p.Gly89=) c.237A>T (p.Gly79=) c.264A>T (p.Gly88=) c.441A>T (n.441A>T) c.430A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.137206188T>C | CA452236907 | IFNGR1 | c.291A>G (p.Gly97=) c.219A>G (p.Gly73=) c.198A>G (p.Gly66=) c.321A>G (p.Gly107=) c.*220A>G (n.*220A>G) c.267A>G (p.Gly89=) c.237A>G (p.Gly79=) c.264A>G (p.Gly88=) c.441A>G (n.441A>G) c.430A>G | |
| 6 | g.137206188T>G | CA452236908 | IFNGR1 | c.291A>C (p.Gly97=) c.219A>C (p.Gly73=) c.198A>C (p.Gly66=) c.321A>C (p.Gly107=) c.*220A>C (n.*220A>C) c.267A>C (p.Gly89=) c.237A>C (p.Gly79=) c.264A>C (p.Gly88=) c.441A>C (n.441A>C) c.430A>C | |
| 6 | g.137206188T= | CA1666386031 | IFNGR1 | c.291A= (p.Gly97=) c.219A= (p.Gly73=) c.198A= (p.Gly66=) c.321A= (p.Gly107=) c.*220A= (n.*220A=) c.267A= (p.Gly89=) c.237A= (p.Gly79=) c.264A= (p.Gly88=) c.441A= (n.441A=) c.430A= | |
| 6 | g.137206189C>A | CA365775698 | IFNGR1 | c.290G>T (p.Gly97Val) c.218G>T (p.Gly73Val) c.197G>T (p.Gly66Val) c.320G>T (p.Gly107Val) c.*219G>T (n.*219G>T) c.266G>T (p.Gly89Val) c.236G>T (p.Gly79Val) c.263G>T (p.Gly88Val) c.440G>T (n.440G>T) c.429G>T | |
| 6 | g.137206189C>G | CA365775699 | IFNGR1 | c.290G>C (p.Gly97Ala) c.218G>C (p.Gly73Ala) c.197G>C (p.Gly66Ala) c.320G>C (p.Gly107Ala) c.*219G>C (n.*219G>C) c.266G>C (p.Gly89Ala) c.236G>C (p.Gly79Ala) c.263G>C (p.Gly88Ala) c.440G>C (n.440G>C) c.429G>C | |
| 6 | g.137206189C>T | CA365775700 | IFNGR1 | c.290G>A (p.Gly97Glu) c.218G>A (p.Gly73Glu) c.197G>A (p.Gly66Glu) c.320G>A (p.Gly107Glu) c.*219G>A (n.*219G>A) c.266G>A (p.Gly89Glu) c.236G>A (p.Gly79Glu) c.263G>A (p.Gly88Glu) c.440G>A (n.440G>A) c.429G>A | |
| 6 | g.137206190C>A | CA365775701 | IFNGR1 | c.289G>T (p.Gly97Ter) c.217G>T (p.Gly73Ter) c.196G>T (p.Gly66Ter) c.319G>T (p.Gly107Ter) c.*218G>T (n.*218G>T) c.265G>T (p.Gly89Ter) c.235G>T (p.Gly79Ter) c.262G>T (p.Gly88Ter) c.439G>T (n.439G>T) c.428G>T | |
| 6 | g.137206190C= | CA1666386032 | IFNGR1 | c.289G= (p.Gly97=) c.217G= (p.Gly73=) c.196G= (p.Gly66=) c.319G= (p.Gly107=) c.*218G= (n.*218G=) c.265G= (p.Gly89=) c.235G= (p.Gly79=) c.262G= (p.Gly88=) c.439G= (n.439G=) c.428G= | |
| 6 | g.137206190C>G | CA365775702 | IFNGR1 | c.289G>C (p.Gly97Arg) c.217G>C (p.Gly73Arg) c.196G>C (p.Gly66Arg) c.319G>C (p.Gly107Arg) c.*218G>C (n.*218G>C) c.265G>C (p.Gly89Arg) c.235G>C (p.Gly79Arg) c.262G>C (p.Gly88Arg) c.439G>C (n.439G>C) c.428G>C | gnomAD v4 |
| 6 | g.137206190C>T | CA365775703 | IFNGR1 | c.289G>A (p.Gly97Arg) c.217G>A (p.Gly73Arg) c.196G>A (p.Gly66Arg) c.319G>A (p.Gly107Arg) c.*218G>A (n.*218G>A) c.265G>A (p.Gly89Arg) c.235G>A (p.Gly79Arg) c.262G>A (p.Gly88Arg) c.439G>A (n.439G>A) c.428G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.137206191A>C | CA452236909 | IFNGR1 | c.288T>G (p.Val96=) c.216T>G (p.Val72=) c.195T>G (p.Val65=) c.318T>G (p.Val106=) c.*217T>G (n.*217T>G) c.264T>G (p.Val88=) c.234T>G (p.Val78=) c.261T>G (p.Val87=) c.438T>G (n.438T>G) c.427T>G | |
| 6 | g.137206191A>G | CA452236910 | IFNGR1 | c.288T>C (p.Val96=) c.216T>C (p.Val72=) c.195T>C (p.Val65=) c.318T>C (p.Val106=) c.*217T>C (n.*217T>C) c.264T>C (p.Val88=) c.234T>C (p.Val78=) c.261T>C (p.Val87=) c.438T>C (n.438T>C) c.427T>C | |
| 6 | g.137206191A>T | CA452236911 | IFNGR1 | c.288T>A (p.Val96=) c.216T>A (p.Val72=) c.195T>A (p.Val65=) c.318T>A (p.Val106=) c.*217T>A (n.*217T>A) c.264T>A (p.Val88=) c.234T>A (p.Val78=) c.261T>A (p.Val87=) c.438T>A (n.438T>A) c.427T>A | |
| 6 | g.137206192A>C | CA365775704 | IFNGR1 | c.287T>G (p.Val96Gly) c.215T>G (p.Val72Gly) c.194T>G (p.Val65Gly) c.317T>G (p.Val106Gly) c.*216T>G (n.*216T>G) c.263T>G (p.Val88Gly) c.233T>G (p.Val78Gly) c.260T>G (p.Val87Gly) c.437T>G (n.437T>G) c.426T>G | |
| 6 | g.137206192A>G | CA365775705 | IFNGR1 | c.287T>C (p.Val96Ala) c.215T>C (p.Val72Ala) c.194T>C (p.Val65Ala) c.317T>C (p.Val106Ala) c.*216T>C (n.*216T>C) c.263T>C (p.Val88Ala) c.233T>C (p.Val78Ala) c.260T>C (p.Val87Ala) c.437T>C (n.437T>C) c.426T>C | |
| 6 | g.137206192A>T | CA365775706 | IFNGR1 | c.287T>A (p.Val96Asp) c.215T>A (p.Val72Asp) c.194T>A (p.Val65Asp) c.317T>A (p.Val106Asp) c.*216T>A (n.*216T>A) c.263T>A (p.Val88Asp) c.233T>A (p.Val78Asp) c.260T>A (p.Val87Asp) c.437T>A (n.437T>A) c.426T>A | |
| 6 | g.137206193C>A | CA365775707 | IFNGR1 | c.286G>T (p.Val96Phe) c.214G>T (p.Val72Phe) c.193G>T (p.Val65Phe) c.316G>T (p.Val106Phe) c.*215G>T (n.*215G>T) c.262G>T (p.Val88Phe) c.232G>T (p.Val78Phe) c.259G>T (p.Val87Phe) c.436G>T (n.436G>T) c.425G>T | |
| 6 | g.137206193C>G | CA365775708 | IFNGR1 | c.286G>C (p.Val96Leu) c.214G>C (p.Val72Leu) c.193G>C (p.Val65Leu) c.316G>C (p.Val106Leu) c.*215G>C (n.*215G>C) c.262G>C (p.Val88Leu) c.232G>C (p.Val78Leu) c.259G>C (p.Val87Leu) c.436G>C (n.436G>C) c.425G>C | |
| 6 | g.137206193C>T | CA365775709 | IFNGR1 | c.286G>A (p.Val96Ile) c.214G>A (p.Val72Ile) c.193G>A (p.Val65Ile) c.316G>A (p.Val106Ile) c.*215G>A (n.*215G>A) c.262G>A (p.Val88Ile) c.232G>A (p.Val78Ile) c.259G>A (p.Val87Ile) c.436G>A (n.436G>A) c.425G>A | dbSNP |
| 6 | g.137206194C>A | CA365775710 | IFNGR1 | c.285G>T (p.Arg95Ser) c.213G>T (p.Arg71Ser) c.192G>T (p.Arg64Ser) c.315G>T (p.Arg105Ser) c.*214G>T (n.*214G>T) c.261G>T (p.Arg87Ser) c.231G>T (p.Arg77Ser) c.258G>T (p.Arg86Ser) c.435G>T (n.435G>T) c.424G>T | dbSNP |