| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.137206149A>C | CA452236886 | IFNGR1 | c.330T>G (p.Ala110=) c.258T>G (p.Ala86=) c.237T>G (p.Ala79=) c.360T>G (p.Ala120=) c.*259T>G (n.*259T>G) c.306T>G (p.Ala102=) c.276T>G (p.Ala92=) c.303T>G (p.Ala101=) c.480T>G (n.480T>G) c.469T>G | |
| 6 | g.137206149A>G | CA452236887 | IFNGR1 | c.330T>C (p.Ala110=) c.258T>C (p.Ala86=) c.237T>C (p.Ala79=) c.360T>C (p.Ala120=) c.*259T>C (n.*259T>C) c.306T>C (p.Ala102=) c.276T>C (p.Ala92=) c.303T>C (p.Ala101=) c.480T>C (n.480T>C) c.469T>C | |
| 6 | g.137206149A>T | CA452236888 | IFNGR1 | c.330T>A (p.Ala110=) c.258T>A (p.Ala86=) c.237T>A (p.Ala79=) c.360T>A (p.Ala120=) c.*259T>A (n.*259T>A) c.306T>A (p.Ala102=) c.276T>A (p.Ala92=) c.303T>A (p.Ala101=) c.480T>A (n.480T>A) c.469T>A | |
| 6 | g.137206150G>A | CA365775607 | IFNGR1 | c.329C>T (p.Ala110Val) c.257C>T (p.Ala86Val) c.236C>T (p.Ala79Val) c.359C>T (p.Ala120Val) c.*258C>T (n.*258C>T) c.305C>T (p.Ala102Val) c.275C>T (p.Ala92Val) c.302C>T (p.Ala101Val) c.479C>T (n.479C>T) c.468C>T | dbSNP |
| 6 | g.137206150G>C | CA365775609 | IFNGR1 | c.329C>G (p.Ala110Gly) c.257C>G (p.Ala86Gly) c.236C>G (p.Ala79Gly) c.359C>G (p.Ala120Gly) c.*258C>G (n.*258C>G) c.305C>G (p.Ala102Gly) c.275C>G (p.Ala92Gly) c.302C>G (p.Ala101Gly) c.479C>G (n.479C>G) c.468C>G | |
| 6 | g.137206150G>T | CA365775608 | IFNGR1 | c.329C>A (p.Ala110Asp) c.257C>A (p.Ala86Asp) c.236C>A (p.Ala79Asp) c.359C>A (p.Ala120Asp) c.*258C>A (n.*258C>A) c.305C>A (p.Ala102Asp) c.275C>A (p.Ala92Asp) c.302C>A (p.Ala101Asp) c.479C>A (n.479C>A) c.468C>A | |
| 6 | g.137206151C>A | CA365775610 | IFNGR1 | c.328G>T (p.Ala110Ser) c.256G>T (p.Ala86Ser) c.235G>T (p.Ala79Ser) c.358G>T (p.Ala120Ser) c.*257G>T (n.*257G>T) c.304G>T (p.Ala102Ser) c.274G>T (p.Ala92Ser) c.301G>T (p.Ala101Ser) c.478G>T (n.478G>T) c.467G>T | |
| 6 | g.137206151C>G | CA365775611 | IFNGR1 | c.328G>C (p.Ala110Pro) c.256G>C (p.Ala86Pro) c.235G>C (p.Ala79Pro) c.358G>C (p.Ala120Pro) c.*257G>C (n.*257G>C) c.304G>C (p.Ala102Pro) c.274G>C (p.Ala92Pro) c.301G>C (p.Ala101Pro) c.478G>C (n.478G>C) c.467G>C | |
| 6 | g.137206151C>T | CA365775612 | IFNGR1 | c.328G>A (p.Ala110Thr) c.256G>A (p.Ala86Thr) c.235G>A (p.Ala79Thr) c.358G>A (p.Ala120Thr) c.*257G>A (n.*257G>A) c.304G>A (p.Ala102Thr) c.274G>A (p.Ala92Thr) c.301G>A (p.Ala101Thr) c.478G>A (n.478G>A) c.467G>A | dbSNP |
| 6 | g.137206152A>C | CA365775613 | IFNGR1 | c.327T>G (p.Phe109Leu) c.255T>G (p.Phe85Leu) c.234T>G (p.Phe78Leu) c.357T>G (p.Phe119Leu) c.*256T>G (n.*256T>G) c.303T>G (p.Phe101Leu) c.273T>G (p.Phe91Leu) c.300T>G (p.Phe100Leu) c.477T>G (n.477T>G) c.466T>G | |
| 6 | g.137206152A>G | CA452236889 | IFNGR1 | c.327T>C (p.Phe109=) c.255T>C (p.Phe85=) c.234T>C (p.Phe78=) c.357T>C (p.Phe119=) c.*256T>C (n.*256T>C) c.303T>C (p.Phe101=) c.273T>C (p.Phe91=) c.300T>C (p.Phe100=) c.477T>C (n.477T>C) c.466T>C | |
| 6 | g.137206152A>T | CA365775614 | IFNGR1 | c.327T>A (p.Phe109Leu) c.255T>A (p.Phe85Leu) c.234T>A (p.Phe78Leu) c.357T>A (p.Phe119Leu) c.*256T>A (n.*256T>A) c.303T>A (p.Phe101Leu) c.273T>A (p.Phe91Leu) c.300T>A (p.Phe100Leu) c.477T>A (n.477T>A) c.466T>A | |
| 6 | g.137206153A= | CA1666386021 | IFNGR1 | c.326T= (p.Phe109=) c.254T= (p.Phe85=) c.233T= (p.Phe78=) c.356T= (p.Phe119=) c.*255T= (n.*255T=) c.302T= (p.Phe101=) c.272T= (p.Phe91=) c.299T= (p.Phe100=) c.476T= (n.476T=) c.465T= | |
| 6 | g.137206153A>C | CA365775615 | IFNGR1 | c.326T>G (p.Phe109Cys) c.254T>G (p.Phe85Cys) c.233T>G (p.Phe78Cys) c.356T>G (p.Phe119Cys) c.*255T>G (n.*255T>G) c.302T>G (p.Phe101Cys) c.272T>G (p.Phe91Cys) c.299T>G (p.Phe100Cys) c.476T>G (n.476T>G) c.465T>G | |
| 6 | g.137206153A>G | CA365775616 | IFNGR1 | c.326T>C (p.Phe109Ser) c.254T>C (p.Phe85Ser) c.233T>C (p.Phe78Ser) c.356T>C (p.Phe119Ser) c.*255T>C (n.*255T>C) c.302T>C (p.Phe101Ser) c.272T>C (p.Phe91Ser) c.299T>C (p.Phe100Ser) c.476T>C (n.476T>C) c.465T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.137206153A>T | CA365775617 | IFNGR1 | c.326T>A (p.Phe109Tyr) c.254T>A (p.Phe85Tyr) c.233T>A (p.Phe78Tyr) c.356T>A (p.Phe119Tyr) c.*255T>A (n.*255T>A) c.302T>A (p.Phe101Tyr) c.272T>A (p.Phe91Tyr) c.299T>A (p.Phe100Tyr) c.476T>A (n.476T>A) c.465T>A | gnomAD v4 |
| 6 | g.137206154A= | CA1666386022 | IFNGR1 | c.325T= (p.Phe109=) c.253T= (p.Phe85=) c.232T= (p.Phe78=) c.355T= (p.Phe119=) c.*254T= (n.*254T=) c.301T= (p.Phe101=) c.271T= (p.Phe91=) c.298T= (p.Phe100=) c.475T= (n.475T=) c.464T= | |
| 6 | g.137206154A>C | CA365775618 | IFNGR1 | c.325T>G (p.Phe109Val) c.253T>G (p.Phe85Val) c.232T>G (p.Phe78Val) c.355T>G (p.Phe119Val) c.*254T>G (n.*254T>G) c.301T>G (p.Phe101Val) c.271T>G (p.Phe91Val) c.298T>G (p.Phe100Val) c.475T>G (n.475T>G) c.464T>G | |
| 6 | g.137206154A>G | CA365775619 | IFNGR1 | c.325T>C (p.Phe109Leu) c.253T>C (p.Phe85Leu) c.232T>C (p.Phe78Leu) c.355T>C (p.Phe119Leu) c.*254T>C (n.*254T>C) c.301T>C (p.Phe101Leu) c.271T>C (p.Phe91Leu) c.298T>C (p.Phe100Leu) c.475T>C (n.475T>C) c.464T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.137206154A>T | CA365775620 | IFNGR1 | c.325T>A (p.Phe109Ile) c.253T>A (p.Phe85Ile) c.232T>A (p.Phe78Ile) c.355T>A (p.Phe119Ile) c.*254T>A (n.*254T>A) c.301T>A (p.Phe101Ile) c.271T>A (p.Phe91Ile) c.298T>A (p.Phe100Ile) c.475T>A (n.475T>A) c.464T>A | |
| 6 | g.137206155T>A | CA365775622 | IFNGR1 | c.324A>T (p.Glu108Asp) c.252A>T (p.Glu84Asp) c.231A>T (p.Glu77Asp) c.354A>T (p.Glu118Asp) c.*253A>T (n.*253A>T) c.300A>T (p.Glu100Asp) c.270A>T (p.Glu90Asp) c.297A>T (p.Glu99Asp) c.474A>T (n.474A>T) c.463A>T | |
| 6 | g.137206155T>C | CA452236890 | IFNGR1 | c.324A>G (p.Glu108=) c.252A>G (p.Glu84=) c.231A>G (p.Glu77=) c.354A>G (p.Glu118=) c.*253A>G (n.*253A>G) c.300A>G (p.Glu100=) c.270A>G (p.Glu90=) c.297A>G (p.Glu99=) c.474A>G (n.474A>G) c.463A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137206155T>G | CA365775621 | IFNGR1 | c.324A>C (p.Glu108Asp) c.252A>C (p.Glu84Asp) c.231A>C (p.Glu77Asp) c.354A>C (p.Glu118Asp) c.*253A>C (n.*253A>C) c.300A>C (p.Glu100Asp) c.270A>C (p.Glu90Asp) c.297A>C (p.Glu99Asp) c.474A>C (n.474A>C) c.463A>C | |
| 6 | g.137206155T= | CA1666386023 | IFNGR1 | c.324A= (p.Glu108=) c.252A= (p.Glu84=) c.231A= (p.Glu77=) c.354A= (p.Glu118=) c.*253A= (n.*253A=) c.300A= (p.Glu100=) c.270A= (p.Glu90=) c.297A= (p.Glu99=) c.474A= (n.474A=) c.463A= | |
| 6 | g.137206156T>A | CA365775623 | IFNGR1 | c.323A>T (p.Glu108Val) c.251A>T (p.Glu84Val) c.230A>T (p.Glu77Val) c.353A>T (p.Glu118Val) c.*252A>T (n.*252A>T) c.299A>T (p.Glu100Val) c.269A>T (p.Glu90Val) c.296A>T (p.Glu99Val) c.473A>T (n.473A>T) c.462A>T | |
| 6 | g.137206156T>C | CA365775625 | IFNGR1 | c.323A>G (p.Glu108Gly) c.251A>G (p.Glu84Gly) c.230A>G (p.Glu77Gly) c.353A>G (p.Glu118Gly) c.*252A>G (n.*252A>G) c.299A>G (p.Glu100Gly) c.269A>G (p.Glu90Gly) c.296A>G (p.Glu99Gly) c.473A>G (n.473A>G) c.462A>G | |
| 6 | g.137206156T>G | CA365775624 | IFNGR1 | c.323A>C (p.Glu108Ala) c.251A>C (p.Glu84Ala) c.230A>C (p.Glu77Ala) c.353A>C (p.Glu118Ala) c.*252A>C (n.*252A>C) c.299A>C (p.Glu100Ala) c.269A>C (p.Glu90Ala) c.296A>C (p.Glu99Ala) c.473A>C (n.473A>C) c.462A>C | |
| 6 | g.137206157C>A | CA365775626 | IFNGR1 | c.322G>T (p.Glu108Ter) c.250G>T (p.Glu84Ter) c.229G>T (p.Glu77Ter) c.352G>T (p.Glu118Ter) c.*251G>T (n.*251G>T) c.298G>T (p.Glu100Ter) c.268G>T (p.Glu90Ter) c.295G>T (p.Glu99Ter) c.472G>T (n.472G>T) c.461G>T | |
| 6 | g.137206157C>G | CA365775627 | IFNGR1 | c.322G>C (p.Glu108Gln) c.250G>C (p.Glu84Gln) c.229G>C (p.Glu77Gln) c.352G>C (p.Glu118Gln) c.*251G>C (n.*251G>C) c.298G>C (p.Glu100Gln) c.268G>C (p.Glu90Gln) c.295G>C (p.Glu99Gln) c.472G>C (n.472G>C) c.461G>C | |
| 6 | g.137206157C>T | CA365775628 | IFNGR1 | c.322G>A (p.Glu108Lys) c.250G>A (p.Glu84Lys) c.229G>A (p.Glu77Lys) c.352G>A (p.Glu118Lys) c.*251G>A (n.*251G>A) c.298G>A (p.Glu100Lys) c.268G>A (p.Glu90Lys) c.295G>A (p.Glu99Lys) c.472G>A (n.472G>A) c.461G>A | |
| 6 | g.137206158T>A | CA365775629 | IFNGR1 | c.321A>T (p.Glu107Asp) c.249A>T (p.Glu83Asp) c.228A>T (p.Glu76Asp) c.351A>T (p.Glu117Asp) c.*250A>T (n.*250A>T) c.297A>T (p.Glu99Asp) c.267A>T (p.Glu89Asp) c.294A>T (p.Glu98Asp) c.471A>T (n.471A>T) c.460A>T | |
| 6 | g.137206158T>C | CA452236891 | IFNGR1 | c.321A>G (p.Glu107=) c.249A>G (p.Glu83=) c.228A>G (p.Glu76=) c.351A>G (p.Glu117=) c.*250A>G (n.*250A>G) c.297A>G (p.Glu99=) c.267A>G (p.Glu89=) c.294A>G (p.Glu98=) c.471A>G (n.471A>G) c.460A>G | |
| 6 | g.137206158T>G | CA365775630 | IFNGR1 | c.321A>C (p.Glu107Asp) c.249A>C (p.Glu83Asp) c.228A>C (p.Glu76Asp) c.351A>C (p.Glu117Asp) c.*250A>C (n.*250A>C) c.297A>C (p.Glu99Asp) c.267A>C (p.Glu89Asp) c.294A>C (p.Glu98Asp) c.471A>C (n.471A>C) c.460A>C | |
| 6 | g.137206159T>A | CA365775631 | IFNGR1 | c.320A>T (p.Glu107Val) c.248A>T (p.Glu83Val) c.227A>T (p.Glu76Val) c.350A>T (p.Glu117Val) c.*249A>T (n.*249A>T) c.296A>T (p.Glu99Val) c.266A>T (p.Glu89Val) c.293A>T (p.Glu98Val) c.470A>T (n.470A>T) c.459A>T | |
| 6 | g.137206159T>C | CA365775632 | IFNGR1 | c.320A>G (p.Glu107Gly) c.248A>G (p.Glu83Gly) c.227A>G (p.Glu76Gly) c.350A>G (p.Glu117Gly) c.*249A>G (n.*249A>G) c.296A>G (p.Glu99Gly) c.266A>G (p.Glu89Gly) c.293A>G (p.Glu98Gly) c.470A>G (n.470A>G) c.459A>G | |
| 6 | g.137206159T>G | CA365775633 | IFNGR1 | c.320A>C (p.Glu107Ala) c.248A>C (p.Glu83Ala) c.227A>C (p.Glu76Ala) c.350A>C (p.Glu117Ala) c.*249A>C (n.*249A>C) c.296A>C (p.Glu99Ala) c.266A>C (p.Glu89Ala) c.293A>C (p.Glu98Ala) c.470A>C (n.470A>C) c.459A>C | |
| 6 | g.137206160C>A | CA365775634 | IFNGR1 | c.319G>T (p.Glu107Ter) c.247G>T (p.Glu83Ter) c.226G>T (p.Glu76Ter) c.349G>T (p.Glu117Ter) c.*248G>T (n.*248G>T) c.295G>T (p.Glu99Ter) c.265G>T (p.Glu89Ter) c.292G>T (p.Glu98Ter) c.469G>T (n.469G>T) c.458G>T | |
| 6 | g.137206160C>G | CA365775635 | IFNGR1 | c.319G>C (p.Glu107Gln) c.247G>C (p.Glu83Gln) c.226G>C (p.Glu76Gln) c.349G>C (p.Glu117Gln) c.*248G>C (n.*248G>C) c.295G>C (p.Glu99Gln) c.265G>C (p.Glu89Gln) c.292G>C (p.Glu98Gln) c.469G>C (n.469G>C) c.458G>C | |
| 6 | g.137206160C>T | CA365775636 | IFNGR1 | c.319G>A (p.Glu107Lys) c.247G>A (p.Glu83Lys) c.226G>A (p.Glu76Lys) c.349G>A (p.Glu117Lys) c.*248G>A (n.*248G>A) c.295G>A (p.Glu99Lys) c.265G>A (p.Glu89Lys) c.292G>A (p.Glu98Lys) c.469G>A (n.469G>A) c.458G>A | |
| 6 | g.137206161T>A | CA452236892 | IFNGR1 | c.318A>T (p.Ser106=) c.246A>T (p.Ser82=) c.225A>T (p.Ser75=) c.348A>T (p.Ser116=) c.*247A>T (n.*247A>T) c.294A>T (p.Ser98=) c.264A>T (p.Ser88=) c.291A>T (p.Ser97=) c.468A>T (n.468A>T) c.457A>T | |
| 6 | g.137206161T>C | CA452236893 | IFNGR1 | c.318A>G (p.Ser106=) c.246A>G (p.Ser82=) c.225A>G (p.Ser75=) c.348A>G (p.Ser116=) c.*247A>G (n.*247A>G) c.294A>G (p.Ser98=) c.264A>G (p.Ser88=) c.291A>G (p.Ser97=) c.468A>G (n.468A>G) c.457A>G | |
| 6 | g.137206161T>G | CA452236894 | IFNGR1 | c.318A>C (p.Ser106=) c.246A>C (p.Ser82=) c.225A>C (p.Ser75=) c.348A>C (p.Ser116=) c.*247A>C (n.*247A>C) c.294A>C (p.Ser98=) c.264A>C (p.Ser88=) c.291A>C (p.Ser97=) c.468A>C (n.468A>C) c.457A>C | |
| 6 | g.137206162G>A | CA365775638 | IFNGR1 | c.317C>T (p.Ser106Leu) c.245C>T (p.Ser82Leu) c.224C>T (p.Ser75Leu) c.347C>T (p.Ser116Leu) c.*246C>T (n.*246C>T) c.293C>T (p.Ser98Leu) c.263C>T (p.Ser88Leu) c.290C>T (p.Ser97Leu) c.467C>T (n.467C>T) c.456C>T | |
| 6 | g.137206162G>C | CA365775637 | IFNGR1 | c.317C>G (p.Ser106Ter) c.245C>G (p.Ser82Ter) c.224C>G (p.Ser75Ter) c.347C>G (p.Ser116Ter) c.*246C>G (n.*246C>G) c.293C>G (p.Ser98Ter) c.263C>G (p.Ser88Ter) c.290C>G (p.Ser97Ter) c.467C>G (n.467C>G) c.456C>G | |
| 6 | g.137206162G= | CA1666386024 | IFNGR1 | c.317C= (p.Ser106=) c.245C= (p.Ser82=) c.224C= (p.Ser75=) c.347C= (p.Ser116=) c.*246C= (n.*246C=) c.293C= (p.Ser98=) c.263C= (p.Ser88=) c.290C= (p.Ser97=) c.467C= (n.467C=) c.456C= | |
| 6 | g.137206162G>T | CA148230822 | IFNGR1 | c.317C>A (p.Ser106Ter) c.245C>A (p.Ser82Ter) c.224C>A (p.Ser75Ter) c.347C>A (p.Ser116Ter) c.*246C>A (n.*246C>A) c.293C>A (p.Ser98Ter) c.263C>A (p.Ser88Ter) c.290C>A (p.Ser97Ter) c.467C>A (n.467C>A) c.456C>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 6 | g.137206163A>C | CA365775639 | IFNGR1 | c.316T>G (p.Ser106Ala) c.244T>G (p.Ser82Ala) c.223T>G (p.Ser75Ala) c.346T>G (p.Ser116Ala) c.*245T>G (n.*245T>G) c.292T>G (p.Ser98Ala) c.262T>G (p.Ser88Ala) c.289T>G (p.Ser97Ala) c.466T>G (n.466T>G) c.455T>G | |
| 6 | g.137206163A>G | CA365775640 | IFNGR1 | c.316T>C (p.Ser106Pro) c.244T>C (p.Ser82Pro) c.223T>C (p.Ser75Pro) c.346T>C (p.Ser116Pro) c.*245T>C (n.*245T>C) c.292T>C (p.Ser98Pro) c.262T>C (p.Ser88Pro) c.289T>C (p.Ser97Pro) c.466T>C (n.466T>C) c.455T>C | |
| 6 | g.137206163A>T | CA365775641 | IFNGR1 | c.316T>A (p.Ser106Thr) c.244T>A (p.Ser82Thr) c.223T>A (p.Ser75Thr) c.346T>A (p.Ser116Thr) c.*245T>A (n.*245T>A) c.292T>A (p.Ser98Thr) c.262T>A (p.Ser88Thr) c.289T>A (p.Ser97Thr) c.466T>A (n.466T>A) c.455T>A | dbSNP |
| 6 | g.137206164C>A | CA365775642 | IFNGR1 | c.315G>T (p.Lys105Asn) c.243G>T (p.Lys81Asn) c.222G>T (p.Lys74Asn) c.345G>T (p.Lys115Asn) c.*244G>T (n.*244G>T) c.291G>T (p.Lys97Asn) c.261G>T (p.Lys87Asn) c.288G>T (p.Lys96Asn) c.465G>T (n.465G>T) c.454G>T |