| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.137206087del | CA2578752636 | IFNGR1 | c.343+49del (n.343+49del) c.271+49del (n.271+49del) c.250+49del (n.250+49del) c.373+49del (n.373+49del) c.*272+49del (n.*272+49del) c.319+49del (n.319+49del) c.289+49del (n.289+49del) c.316+49del (n.316+49del) c.493+49del (n.493+49del) c.482+49del | |
| 6 | g.137206088A= | CA1666385997 | IFNGR1 | c.343+48T= (n.343+48T=) c.271+48T= (n.271+48T=) c.250+48T= (n.250+48T=) c.373+48T= (n.373+48T=) c.*272+48T= (n.*272+48T=) c.319+48T= (n.319+48T=) c.289+48T= (n.289+48T=) c.316+48T= (n.316+48T=) c.493+48T= (n.493+48T=) c.482+48T= | |
| 6 | g.137206088A>T | CA1666385998 | IFNGR1 | c.343+48T>A (n.343+48T>A) c.271+48T>A (n.271+48T>A) c.250+48T>A (n.250+48T>A) c.373+48T>A (n.373+48T>A) c.*272+48T>A (n.*272+48T>A) c.319+48T>A (n.319+48T>A) c.289+48T>A (n.289+48T>A) c.316+48T>A (n.316+48T>A) c.493+48T>A (n.493+48T>A) c.482+48T>A | dbSNP |
| 6 | g.137206091_137206094del | CA2680500264 | IFNGR1 | c.343+45_343+48del (n.343+45_343+48del) c.271+45_271+48del (n.271+45_271+48del) c.250+45_250+48del (n.250+45_250+48del) c.373+45_373+48del (n.373+45_373+48del) c.*272+45_*272+48del (n.*272+45_*272+48del) c.319+45_319+48del (n.319+45_319+48del) c.289+45_289+48del (n.289+45_289+48del) c.316+45_316+48del (n.316+45_316+48del) c.493+45_493+48del (n.493+45_493+48del) c.482+45_482+48del | gnomAD v4 |
| 6 | g.137206089T>G | CA1666385999 | IFNGR1 | c.343+47A>C (n.343+47A>C) c.271+47A>C (n.271+47A>C) c.250+47A>C (n.250+47A>C) c.373+47A>C (n.373+47A>C) c.*272+47A>C (n.*272+47A>C) c.319+47A>C (n.319+47A>C) c.289+47A>C (n.289+47A>C) c.316+47A>C (n.316+47A>C) c.493+47A>C (n.493+47A>C) c.482+47A>C | dbSNP |
| 6 | g.137206089T= | CA1666386000 | IFNGR1 | c.343+47A= (n.343+47A=) c.271+47A= (n.271+47A=) c.250+47A= (n.250+47A=) c.373+47A= (n.373+47A=) c.*272+47A= (n.*272+47A=) c.319+47A= (n.319+47A=) c.289+47A= (n.289+47A=) c.316+47A= (n.316+47A=) c.493+47A= (n.493+47A=) c.482+47A= | |
| 6 | g.137206092del | CA2578752637 | IFNGR1 | c.343+46del (n.343+46del) c.271+46del (n.271+46del) c.250+46del (n.250+46del) c.373+46del (n.373+46del) c.*272+46del (n.*272+46del) c.319+46del (n.319+46del) c.289+46del (n.289+46del) c.316+46del (n.316+46del) c.493+46del (n.493+46del) c.482+46del | |
| 6 | g.137206097T>C | CA570587232 | IFNGR1 | c.343+39A>G (n.343+39A>G) c.271+39A>G (n.271+39A>G) c.250+39A>G (n.250+39A>G) c.373+39A>G (n.373+39A>G) c.*272+39A>G (n.*272+39A>G) c.319+39A>G (n.319+39A>G) c.289+39A>G (n.289+39A>G) c.316+39A>G (n.316+39A>G) c.493+39A>G (n.493+39A>G) c.482+39A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.137206097T= | CA1666386001 | IFNGR1 | c.343+39A= (n.343+39A=) c.271+39A= (n.271+39A=) c.250+39A= (n.250+39A=) c.373+39A= (n.373+39A=) c.*272+39A= (n.*272+39A=) c.319+39A= (n.319+39A=) c.289+39A= (n.289+39A=) c.316+39A= (n.316+39A=) c.493+39A= (n.493+39A=) c.482+39A= | |
| 6 | g.137206099C>T | CA2680500265 | IFNGR1 | c.343+37G>A (n.343+37G>A) c.271+37G>A (n.271+37G>A) c.250+37G>A (n.250+37G>A) c.373+37G>A (n.373+37G>A) c.*272+37G>A (n.*272+37G>A) c.319+37G>A (n.319+37G>A) c.289+37G>A (n.289+37G>A) c.316+37G>A (n.316+37G>A) c.493+37G>A (n.493+37G>A) c.482+37G>A | gnomAD v4 |
| 6 | g.137206100C= | CA1666386002 | IFNGR1 | c.343+36G= (n.343+36G=) c.271+36G= (n.271+36G=) c.250+36G= (n.250+36G=) c.373+36G= (n.373+36G=) c.*272+36G= (n.*272+36G=) c.319+36G= (n.319+36G=) c.289+36G= (n.289+36G=) c.316+36G= (n.316+36G=) c.493+36G= (n.493+36G=) c.482+36G= | |
| 6 | g.137206100C>G | CA915380435 | IFNGR1 | c.343+36G>C (n.343+36G>C) c.271+36G>C (n.271+36G>C) c.250+36G>C (n.250+36G>C) c.373+36G>C (n.373+36G>C) c.*272+36G>C (n.*272+36G>C) c.319+36G>C (n.319+36G>C) c.289+36G>C (n.289+36G>C) c.316+36G>C (n.316+36G>C) c.493+36G>C (n.493+36G>C) c.482+36G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137206100C>T | CA2680500266 | IFNGR1 | c.343+36G>A (n.343+36G>A) c.271+36G>A (n.271+36G>A) c.250+36G>A (n.250+36G>A) c.373+36G>A (n.373+36G>A) c.*272+36G>A (n.*272+36G>A) c.319+36G>A (n.319+36G>A) c.289+36G>A (n.289+36G>A) c.316+36G>A (n.316+36G>A) c.493+36G>A (n.493+36G>A) c.482+36G>A | gnomAD v4 |
| 6 | g.137206103T>C | CA2578752638 | IFNGR1 | c.343+33A>G (n.343+33A>G) c.271+33A>G (n.271+33A>G) c.250+33A>G (n.250+33A>G) c.373+33A>G (n.373+33A>G) c.*272+33A>G (n.*272+33A>G) c.319+33A>G (n.319+33A>G) c.289+33A>G (n.289+33A>G) c.316+33A>G (n.316+33A>G) c.493+33A>G (n.493+33A>G) c.482+33A>G | gnomAD v4 |
| 6 | g.137206106A= | CA1666386003 | IFNGR1 | c.343+30T= (n.343+30T=) c.271+30T= (n.271+30T=) c.250+30T= (n.250+30T=) c.373+30T= (n.373+30T=) c.*272+30T= (n.*272+30T=) c.319+30T= (n.319+30T=) c.289+30T= (n.289+30T=) c.316+30T= (n.316+30T=) c.493+30T= (n.493+30T=) c.482+30T= | |
| 6 | g.137206106A>G | CA570587233 | IFNGR1 | c.343+30T>C (n.343+30T>C) c.271+30T>C (n.271+30T>C) c.250+30T>C (n.250+30T>C) c.373+30T>C (n.373+30T>C) c.*272+30T>C (n.*272+30T>C) c.319+30T>C (n.319+30T>C) c.289+30T>C (n.289+30T>C) c.316+30T>C (n.316+30T>C) c.493+30T>C (n.493+30T>C) c.482+30T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.137206106A>T | CA2680500267 | IFNGR1 | c.343+30T>A (n.343+30T>A) c.271+30T>A (n.271+30T>A) c.250+30T>A (n.250+30T>A) c.373+30T>A (n.373+30T>A) c.*272+30T>A (n.*272+30T>A) c.319+30T>A (n.319+30T>A) c.289+30T>A (n.289+30T>A) c.316+30T>A (n.316+30T>A) c.493+30T>A (n.493+30T>A) c.482+30T>A | gnomAD v4 |
| 6 | g.137206108A>G | CA2578752639 | IFNGR1 | c.343+28T>C (n.343+28T>C) c.271+28T>C (n.271+28T>C) c.250+28T>C (n.250+28T>C) c.373+28T>C (n.373+28T>C) c.*272+28T>C (n.*272+28T>C) c.319+28T>C (n.319+28T>C) c.289+28T>C (n.289+28T>C) c.316+28T>C (n.316+28T>C) c.493+28T>C (n.493+28T>C) c.482+28T>C | |
| 6 | g.137206109A= | CA1666386004 | IFNGR1 | c.343+27T= (n.343+27T=) c.271+27T= (n.271+27T=) c.250+27T= (n.250+27T=) c.373+27T= (n.373+27T=) c.*272+27T= (n.*272+27T=) c.319+27T= (n.319+27T=) c.289+27T= (n.289+27T=) c.316+27T= (n.316+27T=) c.493+27T= (n.493+27T=) c.482+27T= | |
| 6 | g.137206109A>C | CA4018988 | IFNGR1 | c.343+27T>G (n.343+27T>G) c.271+27T>G (n.271+27T>G) c.250+27T>G (n.250+27T>G) c.373+27T>G (n.373+27T>G) c.*272+27T>G (n.*272+27T>G) c.319+27T>G (n.319+27T>G) c.289+27T>G (n.289+27T>G) c.316+27T>G (n.316+27T>G) c.493+27T>G (n.493+27T>G) c.482+27T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.137206109A>G | CA2680500268 | IFNGR1 | c.343+27T>C (n.343+27T>C) c.271+27T>C (n.271+27T>C) c.250+27T>C (n.250+27T>C) c.373+27T>C (n.373+27T>C) c.*272+27T>C (n.*272+27T>C) c.319+27T>C (n.319+27T>C) c.289+27T>C (n.289+27T>C) c.316+27T>C (n.316+27T>C) c.493+27T>C (n.493+27T>C) c.482+27T>C | gnomAD v4 |
| 6 | g.137206113A= | CA1666386005 | IFNGR1 | c.343+23T= (n.343+23T=) c.271+23T= (n.271+23T=) c.250+23T= (n.250+23T=) c.373+23T= (n.373+23T=) c.*272+23T= (n.*272+23T=) c.319+23T= (n.319+23T=) c.289+23T= (n.289+23T=) c.316+23T= (n.316+23T=) c.493+23T= (n.493+23T=) c.482+23T= | |
| 6 | g.137206113A>G | CA1666386006 | IFNGR1 | c.343+23T>C (n.343+23T>C) c.271+23T>C (n.271+23T>C) c.250+23T>C (n.250+23T>C) c.373+23T>C (n.373+23T>C) c.*272+23T>C (n.*272+23T>C) c.319+23T>C (n.319+23T>C) c.289+23T>C (n.289+23T>C) c.316+23T>C (n.316+23T>C) c.493+23T>C (n.493+23T>C) c.482+23T>C | dbSNP |
| 6 | g.137206113A>T | CA2680500269 | IFNGR1 | c.343+23T>A (n.343+23T>A) c.271+23T>A (n.271+23T>A) c.250+23T>A (n.250+23T>A) c.373+23T>A (n.373+23T>A) c.*272+23T>A (n.*272+23T>A) c.319+23T>A (n.319+23T>A) c.289+23T>A (n.289+23T>A) c.316+23T>A (n.316+23T>A) c.493+23T>A (n.493+23T>A) c.482+23T>A | gnomAD v4 |
| 6 | g.137206114C= | CA1666386007 | IFNGR1 | c.343+22G= (n.343+22G=) c.271+22G= (n.271+22G=) c.250+22G= (n.250+22G=) c.373+22G= (n.373+22G=) c.*272+22G= (n.*272+22G=) c.319+22G= (n.319+22G=) c.289+22G= (n.289+22G=) c.316+22G= (n.316+22G=) c.493+22G= (n.493+22G=) c.482+22G= | |
| 6 | g.137206114C>T | CA4018989 | IFNGR1 | c.343+22G>A (n.343+22G>A) c.271+22G>A (n.271+22G>A) c.250+22G>A (n.250+22G>A) c.373+22G>A (n.373+22G>A) c.*272+22G>A (n.*272+22G>A) c.319+22G>A (n.319+22G>A) c.289+22G>A (n.289+22G>A) c.316+22G>A (n.316+22G>A) c.493+22G>A (n.493+22G>A) c.482+22G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137206115A>G | CA2680500270 | IFNGR1 | c.343+21T>C (n.343+21T>C) c.271+21T>C (n.271+21T>C) c.250+21T>C (n.250+21T>C) c.373+21T>C (n.373+21T>C) c.*272+21T>C (n.*272+21T>C) c.319+21T>C (n.319+21T>C) c.289+21T>C (n.289+21T>C) c.316+21T>C (n.316+21T>C) c.493+21T>C (n.493+21T>C) c.482+21T>C | gnomAD v4 |
| 6 | g.137206116T>C | CA570587235 | IFNGR1 | c.343+20A>G (n.343+20A>G) c.271+20A>G (n.271+20A>G) c.250+20A>G (n.250+20A>G) c.373+20A>G (n.373+20A>G) c.*272+20A>G (n.*272+20A>G) c.319+20A>G (n.319+20A>G) c.289+20A>G (n.289+20A>G) c.316+20A>G (n.316+20A>G) c.493+20A>G (n.493+20A>G) c.482+20A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.137206116T= | CA1666386008 | IFNGR1 | c.343+20A= (n.343+20A=) c.271+20A= (n.271+20A=) c.250+20A= (n.250+20A=) c.373+20A= (n.373+20A=) c.*272+20A= (n.*272+20A=) c.319+20A= (n.319+20A=) c.289+20A= (n.289+20A=) c.316+20A= (n.316+20A=) c.493+20A= (n.493+20A=) c.482+20A= | |
| 6 | g.137206117G>T | CA2680500271 | IFNGR1 | c.343+19C>A (n.343+19C>A) c.271+19C>A (n.271+19C>A) c.250+19C>A (n.250+19C>A) c.373+19C>A (n.373+19C>A) c.*272+19C>A (n.*272+19C>A) c.319+19C>A (n.319+19C>A) c.289+19C>A (n.289+19C>A) c.316+19C>A (n.316+19C>A) c.493+19C>A (n.493+19C>A) c.482+19C>A | gnomAD v4 |
| 6 | g.137206119G>T | CA2680500272 | IFNGR1 | c.343+17C>A (n.343+17C>A) c.271+17C>A (n.271+17C>A) c.250+17C>A (n.250+17C>A) c.373+17C>A (n.373+17C>A) c.*272+17C>A (n.*272+17C>A) c.319+17C>A (n.319+17C>A) c.289+17C>A (n.289+17C>A) c.316+17C>A (n.316+17C>A) c.493+17C>A (n.493+17C>A) c.482+17C>A | gnomAD v4 |
| 6 | g.137206121A>G | CA2680500273 | IFNGR1 | c.343+15T>C (n.343+15T>C) c.271+15T>C (n.271+15T>C) c.250+15T>C (n.250+15T>C) c.373+15T>C (n.373+15T>C) c.*272+15T>C (n.*272+15T>C) c.319+15T>C (n.319+15T>C) c.289+15T>C (n.289+15T>C) c.316+15T>C (n.316+15T>C) c.493+15T>C (n.493+15T>C) c.482+15T>C | gnomAD v4 |
| 6 | g.137206121A>T | CA2713244413 | IFNGR1 | c.343+15T>A (n.343+15T>A) c.271+15T>A (n.271+15T>A) c.250+15T>A (n.250+15T>A) c.373+15T>A (n.373+15T>A) c.*272+15T>A (n.*272+15T>A) c.319+15T>A (n.319+15T>A) c.289+15T>A (n.289+15T>A) c.316+15T>A (n.316+15T>A) c.493+15T>A (n.493+15T>A) c.482+15T>A | dbSNP |
| 6 | g.137206122C>T | CA2680500274 | IFNGR1 | c.343+14G>A (n.343+14G>A) c.271+14G>A (n.271+14G>A) c.250+14G>A (n.250+14G>A) c.373+14G>A (n.373+14G>A) c.*272+14G>A (n.*272+14G>A) c.319+14G>A (n.319+14G>A) c.289+14G>A (n.289+14G>A) c.316+14G>A (n.316+14G>A) c.493+14G>A (n.493+14G>A) c.482+14G>A | dbSNP gnomAD v4 |
| 6 | g.137206123A= | CA1666386009 | IFNGR1 | c.343+13T= (n.343+13T=) c.271+13T= (n.271+13T=) c.250+13T= (n.250+13T=) c.373+13T= (n.373+13T=) c.*272+13T= (n.*272+13T=) c.319+13T= (n.319+13T=) c.289+13T= (n.289+13T=) c.316+13T= (n.316+13T=) c.493+13T= (n.493+13T=) c.482+13T= | |
| 6 | g.137206123A>T | CA819538496 | IFNGR1 | c.343+13T>A (n.343+13T>A) c.271+13T>A (n.271+13T>A) c.250+13T>A (n.250+13T>A) c.373+13T>A (n.373+13T>A) c.*272+13T>A (n.*272+13T>A) c.319+13T>A (n.319+13T>A) c.289+13T>A (n.289+13T>A) c.316+13T>A (n.316+13T>A) c.493+13T>A (n.493+13T>A) c.482+13T>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.137206124C>T | CA2680500275 | IFNGR1 | c.343+12G>A (n.343+12G>A) c.271+12G>A (n.271+12G>A) c.250+12G>A (n.250+12G>A) c.373+12G>A (n.373+12G>A) c.*272+12G>A (n.*272+12G>A) c.319+12G>A (n.319+12G>A) c.289+12G>A (n.289+12G>A) c.316+12G>A (n.316+12G>A) c.493+12G>A (n.493+12G>A) c.482+12G>A | dbSNP gnomAD v4 |
| 6 | g.137206125A= | CA1666386010 | IFNGR1 | c.343+11T= (n.343+11T=) c.271+11T= (n.271+11T=) c.250+11T= (n.250+11T=) c.373+11T= (n.373+11T=) c.*272+11T= (n.*272+11T=) c.319+11T= (n.319+11T=) c.289+11T= (n.289+11T=) c.316+11T= (n.316+11T=) c.493+11T= (n.493+11T=) c.482+11T= | |
| 6 | g.137206125A>G | CA819538500 | IFNGR1 | c.343+11T>C (n.343+11T>C) c.271+11T>C (n.271+11T>C) c.250+11T>C (n.250+11T>C) c.373+11T>C (n.373+11T>C) c.*272+11T>C (n.*272+11T>C) c.319+11T>C (n.319+11T>C) c.289+11T>C (n.289+11T>C) c.316+11T>C (n.316+11T>C) c.493+11T>C (n.493+11T>C) c.482+11T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.137206126T>C | CA2680500276 | IFNGR1 | c.343+10A>G (n.343+10A>G) c.271+10A>G (n.271+10A>G) c.250+10A>G (n.250+10A>G) c.373+10A>G (n.373+10A>G) c.*272+10A>G (n.*272+10A>G) c.319+10A>G (n.319+10A>G) c.289+10A>G (n.289+10A>G) c.316+10A>G (n.316+10A>G) c.493+10A>G (n.493+10A>G) c.482+10A>G | gnomAD v4 |
| 6 | g.137206127T>C | CA1094926186 | IFNGR1 | c.343+9A>G (n.343+9A>G) c.271+9A>G (n.271+9A>G) c.250+9A>G (n.250+9A>G) c.373+9A>G (n.373+9A>G) c.*272+9A>G (n.*272+9A>G) c.319+9A>G (n.319+9A>G) c.289+9A>G (n.289+9A>G) c.316+9A>G (n.316+9A>G) c.493+9A>G (n.493+9A>G) c.482+9A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.137206127T= | CA1666386011 | IFNGR1 | c.343+9A= (n.343+9A=) c.271+9A= (n.271+9A=) c.250+9A= (n.250+9A=) c.373+9A= (n.373+9A=) c.*272+9A= (n.*272+9A=) c.319+9A= (n.319+9A=) c.289+9A= (n.289+9A=) c.316+9A= (n.316+9A=) c.493+9A= (n.493+9A=) c.482+9A= | |
| 6 | g.137206128C>T | CA2713244696 | IFNGR1 | c.343+8G>A (n.343+8G>A) c.271+8G>A (n.271+8G>A) c.250+8G>A (n.250+8G>A) c.373+8G>A (n.373+8G>A) c.*272+8G>A (n.*272+8G>A) c.319+8G>A (n.319+8G>A) c.289+8G>A (n.289+8G>A) c.316+8G>A (n.316+8G>A) c.493+8G>A (n.493+8G>A) c.482+8G>A | dbSNP |
| 6 | g.137206129T>A | CA2542430167 | IFNGR1 | c.343+7A>T (n.343+7A>T) c.271+7A>T (n.271+7A>T) c.250+7A>T (n.250+7A>T) c.373+7A>T (n.373+7A>T) c.*272+7A>T (n.*272+7A>T) c.319+7A>T (n.319+7A>T) c.289+7A>T (n.289+7A>T) c.316+7A>T (n.316+7A>T) c.493+7A>T (n.493+7A>T) c.482+7A>T | |
| 6 | g.137206131C>A | CA2680500277 | IFNGR1 | c.343+5G>T (n.343+5G>T) c.271+5G>T (n.271+5G>T) c.250+5G>T (n.250+5G>T) c.373+5G>T (n.373+5G>T) c.*272+5G>T (n.*272+5G>T) c.319+5G>T (n.319+5G>T) c.289+5G>T (n.289+5G>T) c.316+5G>T (n.316+5G>T) c.493+5G>T (n.493+5G>T) c.482+5G>T | gnomAD v4 |
| 6 | g.137206131C>T | CA2713244743 | IFNGR1 | c.343+5G>A (n.343+5G>A) c.271+5G>A (n.271+5G>A) c.250+5G>A (n.250+5G>A) c.373+5G>A (n.373+5G>A) c.*272+5G>A (n.*272+5G>A) c.319+5G>A (n.319+5G>A) c.289+5G>A (n.289+5G>A) c.316+5G>A (n.316+5G>A) c.493+5G>A (n.493+5G>A) c.482+5G>A | dbSNP |
| 6 | g.137206133C>G | CA2713245014 | IFNGR1 | c.343+3G>C (n.343+3G>C) c.271+3G>C (n.271+3G>C) c.250+3G>C (n.250+3G>C) c.373+3G>C (n.373+3G>C) c.*272+3G>C (n.*272+3G>C) c.319+3G>C (n.319+3G>C) c.289+3G>C (n.289+3G>C) c.316+3G>C (n.316+3G>C) c.493+3G>C (n.493+3G>C) c.482+3G>C | dbSNP |
| 6 | g.137206134A= | CA1666386012 | IFNGR1 | c.343+2T= (n.343+2T=) c.271+2T= (n.271+2T=) c.250+2T= (n.250+2T=) c.373+2T= (n.373+2T=) c.*272+2T= (n.*272+2T=) c.319+2T= (n.319+2T=) c.289+2T= (n.289+2T=) c.316+2T= (n.316+2T=) c.493+2T= (n.493+2T=) c.482+2T= | |
| 6 | g.137206134A>C | CA365775575 | IFNGR1 | c.343+2T>G (n.343+2T>G) c.271+2T>G (n.271+2T>G) c.250+2T>G (n.250+2T>G) c.373+2T>G (n.373+2T>G) c.*272+2T>G (n.*272+2T>G) c.319+2T>G (n.319+2T>G) c.289+2T>G (n.289+2T>G) c.316+2T>G (n.316+2T>G) c.493+2T>G (n.493+2T>G) c.482+2T>G | |
| 6 | g.137206134A>G | CA365775576 | IFNGR1 | c.343+2T>C (n.343+2T>C) c.271+2T>C (n.271+2T>C) c.250+2T>C (n.250+2T>C) c.373+2T>C (n.373+2T>C) c.*272+2T>C (n.*272+2T>C) c.319+2T>C (n.319+2T>C) c.289+2T>C (n.289+2T>C) c.316+2T>C (n.316+2T>C) c.493+2T>C (n.493+2T>C) c.482+2T>C | ClinVar dbSNP |
| 6 | g.137206134A>T | CA365775577 | IFNGR1 | c.343+2T>A (n.343+2T>A) c.271+2T>A (n.271+2T>A) c.250+2T>A (n.250+2T>A) c.373+2T>A (n.373+2T>A) c.*272+2T>A (n.*272+2T>A) c.319+2T>A (n.319+2T>A) c.289+2T>A (n.289+2T>A) c.316+2T>A (n.316+2T>A) c.493+2T>A (n.493+2T>A) c.482+2T>A | |
| 6 | g.137206135C>A | CA4018990 | IFNGR1 | c.343+1G>T (n.343+1G>T) c.271+1G>T (n.271+1G>T) c.250+1G>T (n.250+1G>T) c.373+1G>T (n.373+1G>T) c.*272+1G>T (n.*272+1G>T) c.319+1G>T (n.319+1G>T) c.289+1G>T (n.289+1G>T) c.316+1G>T (n.316+1G>T) c.493+1G>T (n.493+1G>T) c.482+1G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137206135C= | CA1666386013 | IFNGR1 | c.343+1G= (n.343+1G=) c.271+1G= (n.271+1G=) c.250+1G= (n.250+1G=) c.373+1G= (n.373+1G=) c.*272+1G= (n.*272+1G=) c.319+1G= (n.319+1G=) c.289+1G= (n.289+1G=) c.316+1G= (n.316+1G=) c.493+1G= (n.493+1G=) c.482+1G= | |
| 6 | g.137206135C>G | CA365775579 | IFNGR1 | c.343+1G>C (n.343+1G>C) c.271+1G>C (n.271+1G>C) c.250+1G>C (n.250+1G>C) c.373+1G>C (n.373+1G>C) c.*272+1G>C (n.*272+1G>C) c.319+1G>C (n.319+1G>C) c.289+1G>C (n.289+1G>C) c.316+1G>C (n.316+1G>C) c.493+1G>C (n.493+1G>C) c.482+1G>C | |
| 6 | g.137206135C>T | CA365775578 | IFNGR1 | c.343+1G>A (n.343+1G>A) c.271+1G>A (n.271+1G>A) c.250+1G>A (n.250+1G>A) c.373+1G>A (n.373+1G>A) c.*272+1G>A (n.*272+1G>A) c.319+1G>A (n.319+1G>A) c.289+1G>A (n.289+1G>A) c.316+1G>A (n.316+1G>A) c.493+1G>A (n.493+1G>A) c.482+1G>A | |
| 6 | g.137206136C>A | CA365775580 | IFNGR1 | c.343G>T (p.Gly115Ter) c.271G>T (p.Gly91Ter) c.250G>T (p.Gly84Ter) c.373G>T (p.Gly125Ter) c.*272G>T (n.*272G>T) c.319G>T (p.Gly107Ter) c.289G>T (p.Gly97Ter) c.316G>T (p.Gly106Ter) c.493G>T (n.493G>T) c.482G>T | |
| 6 | g.137206136C>G | CA365775581 | IFNGR1 | c.343G>C (p.Gly115Arg) c.271G>C (p.Gly91Arg) c.250G>C (p.Gly84Arg) c.373G>C (p.Gly125Arg) c.*272G>C (n.*272G>C) c.319G>C (p.Gly107Arg) c.289G>C (p.Gly97Arg) c.316G>C (p.Gly106Arg) c.493G>C (n.493G>C) c.482G>C | |
| 6 | g.137206136C>T | CA365775582 | IFNGR1 | c.343G>A (p.Gly115Arg) c.271G>A (p.Gly91Arg) c.250G>A (p.Gly84Arg) c.373G>A (p.Gly125Arg) c.*272G>A (n.*272G>A) c.319G>A (p.Gly107Arg) c.289G>A (p.Gly97Arg) c.316G>A (p.Gly106Arg) c.493G>A (n.493G>A) c.482G>A | dbSNP |
| 6 | g.137206137A= | CA1666386014 | IFNGR1 | c.342T= (p.Asp114=) c.270T= (p.Asp90=) c.249T= (p.Asp83=) c.372T= (p.Asp124=) c.*271T= (n.*271T=) c.318T= (p.Asp106=) c.288T= (p.Asp96=) c.315T= (p.Asp105=) c.492T= (n.492T=) c.481T= | |
| 6 | g.137206137A>C | CA365775583 | IFNGR1 | c.342T>G (p.Asp114Glu) c.270T>G (p.Asp90Glu) c.249T>G (p.Asp83Glu) c.372T>G (p.Asp124Glu) c.*271T>G (n.*271T>G) c.318T>G (p.Asp106Glu) c.288T>G (p.Asp96Glu) c.315T>G (p.Asp105Glu) c.492T>G (n.492T>G) c.481T>G | |
| 6 | g.137206137A>G | CA452236877 | IFNGR1 | c.342T>C (p.Asp114=) c.270T>C (p.Asp90=) c.249T>C (p.Asp83=) c.372T>C (p.Asp124=) c.*271T>C (n.*271T>C) c.318T>C (p.Asp106=) c.288T>C (p.Asp96=) c.315T>C (p.Asp105=) c.492T>C (n.492T>C) c.481T>C | |
| 6 | g.137206137A>T | CA365775584 | IFNGR1 | c.342T>A (p.Asp114Glu) c.270T>A (p.Asp90Glu) c.249T>A (p.Asp83Glu) c.372T>A (p.Asp124Glu) c.*271T>A (n.*271T>A) c.318T>A (p.Asp106Glu) c.288T>A (p.Asp96Glu) c.315T>A (p.Asp105Glu) c.492T>A (n.492T>A) c.481T>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.137206138T>A | CA148230796 | IFNGR1 | c.341A>T (p.Asp114Val) c.269A>T (p.Asp90Val) c.248A>T (p.Asp83Val) c.371A>T (p.Asp124Val) c.*270A>T (n.*270A>T) c.317A>T (p.Asp106Val) c.287A>T (p.Asp96Val) c.314A>T (p.Asp105Val) c.491A>T (n.491A>T) c.480A>T | dbSNP |
| 6 | g.137206138T>C | CA365775585 | IFNGR1 | c.341A>G (p.Asp114Gly) c.269A>G (p.Asp90Gly) c.248A>G (p.Asp83Gly) c.371A>G (p.Asp124Gly) c.*270A>G (n.*270A>G) c.317A>G (p.Asp106Gly) c.287A>G (p.Asp96Gly) c.314A>G (p.Asp105Gly) c.491A>G (n.491A>G) c.480A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.137206138T>G | CA365775586 | IFNGR1 | c.341A>C (p.Asp114Ala) c.269A>C (p.Asp90Ala) c.248A>C (p.Asp83Ala) c.371A>C (p.Asp124Ala) c.*270A>C (n.*270A>C) c.317A>C (p.Asp106Ala) c.287A>C (p.Asp96Ala) c.314A>C (p.Asp105Ala) c.491A>C (n.491A>C) c.480A>C | |
| 6 | g.137206138T= | CA1666386015 | IFNGR1 | c.341A= (p.Asp114=) c.269A= (p.Asp90=) c.248A= (p.Asp83=) c.371A= (p.Asp124=) c.*270A= (n.*270A=) c.317A= (p.Asp106=) c.287A= (p.Asp96=) c.314A= (p.Asp105=) c.491A= (n.491A=) c.480A= | |
| 6 | g.137206139C>A | CA365775587 | IFNGR1 | c.340G>T (p.Asp114Tyr) c.268G>T (p.Asp90Tyr) c.247G>T (p.Asp83Tyr) c.370G>T (p.Asp124Tyr) c.*269G>T (n.*269G>T) c.316G>T (p.Asp106Tyr) c.286G>T (p.Asp96Tyr) c.313G>T (p.Asp105Tyr) c.490G>T (n.490G>T) c.479G>T | ClinVar dbSNP |
| 6 | g.137206139C= | CA1666386016 | IFNGR1 | c.340G= (p.Asp114=) c.268G= (p.Asp90=) c.247G= (p.Asp83=) c.370G= (p.Asp124=) c.*269G= (n.*269G=) c.316G= (p.Asp106=) c.286G= (p.Asp96=) c.313G= (p.Asp105=) c.490G= (n.490G=) c.479G= | |
| 6 | g.137206139C>G | CA365775588 | IFNGR1 | c.340G>C (p.Asp114His) c.268G>C (p.Asp90His) c.247G>C (p.Asp83His) c.370G>C (p.Asp124His) c.*269G>C (n.*269G>C) c.316G>C (p.Asp106His) c.286G>C (p.Asp96His) c.313G>C (p.Asp105His) c.490G>C (n.490G>C) c.479G>C | |
| 6 | g.137206139C>T | CA365775589 | IFNGR1 | c.340G>A (p.Asp114Asn) c.268G>A (p.Asp90Asn) c.247G>A (p.Asp83Asn) c.370G>A (p.Asp124Asn) c.*269G>A (n.*269G>A) c.316G>A (p.Asp106Asn) c.286G>A (p.Asp96Asn) c.313G>A (p.Asp105Asn) c.490G>A (n.490G>A) c.479G>A | |
| 6 | g.137206140T>A | CA452236878 | IFNGR1 | c.339A>T (p.Arg113=) c.267A>T (p.Arg89=) c.246A>T (p.Arg82=) c.369A>T (p.Arg123=) c.*268A>T (n.*268A>T) c.315A>T (p.Arg105=) c.285A>T (p.Arg95=) c.312A>T (p.Arg104=) c.489A>T (n.489A>T) c.478A>T | |
| 6 | g.137206140T>C | CA452236879 | IFNGR1 | c.339A>G (p.Arg113=) c.267A>G (p.Arg89=) c.246A>G (p.Arg82=) c.369A>G (p.Arg123=) c.*268A>G (n.*268A>G) c.315A>G (p.Arg105=) c.285A>G (p.Arg95=) c.312A>G (p.Arg104=) c.489A>G (n.489A>G) c.478A>G | |
| 6 | g.137206140T>G | CA452236880 | IFNGR1 | c.339A>C (p.Arg113=) c.267A>C (p.Arg89=) c.246A>C (p.Arg82=) c.369A>C (p.Arg123=) c.*268A>C (n.*268A>C) c.315A>C (p.Arg105=) c.285A>C (p.Arg95=) c.312A>C (p.Arg104=) c.489A>C (n.489A>C) c.478A>C | |
| 6 | g.137206141C>A | CA365775590 | IFNGR1 | c.338G>T (p.Arg113Leu) c.266G>T (p.Arg89Leu) c.245G>T (p.Arg82Leu) c.368G>T (p.Arg123Leu) c.*267G>T (n.*267G>T) c.314G>T (p.Arg105Leu) c.284G>T (p.Arg95Leu) c.311G>T (p.Arg104Leu) c.488G>T (n.488G>T) c.477G>T | |
| 6 | g.137206141C= | CA1666386017 | IFNGR1 | c.338G= (p.Arg113=) c.266G= (p.Arg89=) c.245G= (p.Arg82=) c.368G= (p.Arg123=) c.*267G= (n.*267G=) c.314G= (p.Arg105=) c.284G= (p.Arg95=) c.311G= (p.Arg104=) c.488G= (n.488G=) c.477G= | |
| 6 | g.137206141C>G | CA365775591 | IFNGR1 | c.338G>C (p.Arg113Pro) c.266G>C (p.Arg89Pro) c.245G>C (p.Arg82Pro) c.368G>C (p.Arg123Pro) c.*267G>C (n.*267G>C) c.314G>C (p.Arg105Pro) c.284G>C (p.Arg95Pro) c.311G>C (p.Arg104Pro) c.488G>C (n.488G>C) c.477G>C | |
| 6 | g.137206141C>T | CA4018991 | IFNGR1 | c.338G>A (p.Arg113Gln) c.266G>A (p.Arg89Gln) c.245G>A (p.Arg82Gln) c.368G>A (p.Arg123Gln) c.*267G>A (n.*267G>A) c.314G>A (p.Arg105Gln) c.284G>A (p.Arg95Gln) c.311G>A (p.Arg104Gln) c.488G>A (n.488G>A) c.477G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137206142G>A | CA365775593 | IFNGR1 | c.337C>T (p.Arg113Ter) c.265C>T (p.Arg89Ter) c.244C>T (p.Arg82Ter) c.367C>T (p.Arg123Ter) c.*266C>T (n.*266C>T) c.313C>T (p.Arg105Ter) c.283C>T (p.Arg95Ter) c.310C>T (p.Arg104Ter) c.487C>T (n.487C>T) c.476C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.137206142G>C | CA365775592 | IFNGR1 | c.337C>G (p.Arg113Gly) c.265C>G (p.Arg89Gly) c.244C>G (p.Arg82Gly) c.367C>G (p.Arg123Gly) c.*266C>G (n.*266C>G) c.313C>G (p.Arg105Gly) c.283C>G (p.Arg95Gly) c.310C>G (p.Arg104Gly) c.487C>G (n.487C>G) c.476C>G | |
| 6 | g.137206142G= | CA1666386018 | IFNGR1 | c.337C= (p.Arg113=) c.265C= (p.Arg89=) c.244C= (p.Arg82=) c.367C= (p.Arg123=) c.*266C= (n.*266C=) c.313C= (p.Arg105=) c.283C= (p.Arg95=) c.310C= (p.Arg104=) c.487C= (n.487C=) c.476C= | |
| 6 | g.137206142G>T | CA452236881 | IFNGR1 | c.337C>A (p.Arg113=) c.265C>A (p.Arg89=) c.244C>A (p.Arg82=) c.367C>A (p.Arg123=) c.*266C>A (n.*266C>A) c.313C>A (p.Arg105=) c.283C>A (p.Arg95=) c.310C>A (p.Arg104=) c.487C>A (n.487C>A) c.476C>A | |
| 6 | g.137206143G>A | CA452236882 | IFNGR1 | c.336C>T (p.Cys112=) c.264C>T (p.Cys88=) c.243C>T (p.Cys81=) c.366C>T (p.Cys122=) c.*265C>T (n.*265C>T) c.312C>T (p.Cys104=) c.282C>T (p.Cys94=) c.309C>T (p.Cys103=) c.486C>T (n.486C>T) c.475C>T | dbSNP gnomAD v4 |
| 6 | g.137206143G>C | CA365775595 | IFNGR1 | c.336C>G (p.Cys112Trp) c.264C>G (p.Cys88Trp) c.243C>G (p.Cys81Trp) c.366C>G (p.Cys122Trp) c.*265C>G (n.*265C>G) c.312C>G (p.Cys104Trp) c.282C>G (p.Cys94Trp) c.309C>G (p.Cys103Trp) c.486C>G (n.486C>G) c.475C>G | |
| 6 | g.137206143G= | CA1666386019 | IFNGR1 | c.336C= (p.Cys112=) c.264C= (p.Cys88=) c.243C= (p.Cys81=) c.366C= (p.Cys122=) c.*265C= (n.*265C=) c.312C= (p.Cys104=) c.282C= (p.Cys94=) c.309C= (p.Cys103=) c.486C= (n.486C=) c.475C= | |
| 6 | g.137206143G>T | CA365775594 | IFNGR1 | c.336C>A (p.Cys112Ter) c.264C>A (p.Cys88Ter) c.243C>A (p.Cys81Ter) c.366C>A (p.Cys122Ter) c.*265C>A (n.*265C>A) c.312C>A (p.Cys104Ter) c.282C>A (p.Cys94Ter) c.309C>A (p.Cys103Ter) c.486C>A (n.486C>A) c.475C>A | dbSNP |
| 6 | g.137206144C>A | CA4018992 | IFNGR1 | c.335G>T (p.Cys112Phe) c.263G>T (p.Cys88Phe) c.242G>T (p.Cys81Phe) c.365G>T (p.Cys122Phe) c.*264G>T (n.*264G>T) c.311G>T (p.Cys104Phe) c.281G>T (p.Cys94Phe) c.308G>T (p.Cys103Phe) c.485G>T (n.485G>T) c.474G>T | dbSNP ExAC gnomAD v2 |
| 6 | g.137206144C= | CA1666386020 | IFNGR1 | c.335G= (p.Cys112=) c.263G= (p.Cys88=) c.242G= (p.Cys81=) c.365G= (p.Cys122=) c.*264G= (n.*264G=) c.311G= (p.Cys104=) c.281G= (p.Cys94=) c.308G= (p.Cys103=) c.485G= (n.485G=) c.474G= | |
| 6 | g.137206144C>G | CA365775596 | IFNGR1 | c.335G>C (p.Cys112Ser) c.263G>C (p.Cys88Ser) c.242G>C (p.Cys81Ser) c.365G>C (p.Cys122Ser) c.*264G>C (n.*264G>C) c.311G>C (p.Cys104Ser) c.281G>C (p.Cys94Ser) c.308G>C (p.Cys103Ser) c.485G>C (n.485G>C) c.474G>C | |
| 6 | g.137206144C>T | CA365775597 | IFNGR1 | c.335G>A (p.Cys112Tyr) c.263G>A (p.Cys88Tyr) c.242G>A (p.Cys81Tyr) c.365G>A (p.Cys122Tyr) c.*264G>A (n.*264G>A) c.311G>A (p.Cys104Tyr) c.281G>A (p.Cys94Tyr) c.308G>A (p.Cys103Tyr) c.485G>A (n.485G>A) c.474G>A | |
| 6 | g.137206145A>C | CA365775598 | IFNGR1 | c.334T>G (p.Cys112Gly) c.262T>G (p.Cys88Gly) c.241T>G (p.Cys81Gly) c.364T>G (p.Cys122Gly) c.*263T>G (n.*263T>G) c.310T>G (p.Cys104Gly) c.280T>G (p.Cys94Gly) c.307T>G (p.Cys103Gly) c.484T>G (n.484T>G) c.473T>G | |
| 6 | g.137206145A>G | CA365775599 | IFNGR1 | c.334T>C (p.Cys112Arg) c.262T>C (p.Cys88Arg) c.241T>C (p.Cys81Arg) c.364T>C (p.Cys122Arg) c.*263T>C (n.*263T>C) c.310T>C (p.Cys104Arg) c.280T>C (p.Cys94Arg) c.307T>C (p.Cys103Arg) c.484T>C (n.484T>C) c.473T>C | |
| 6 | g.137206145A>T | CA365775600 | IFNGR1 | c.334T>A (p.Cys112Ser) c.262T>A (p.Cys88Ser) c.241T>A (p.Cys81Ser) c.364T>A (p.Cys122Ser) c.*263T>A (n.*263T>A) c.310T>A (p.Cys104Ser) c.280T>A (p.Cys94Ser) c.307T>A (p.Cys103Ser) c.484T>A (n.484T>A) c.473T>A | |
| 6 | g.137206146T>A | CA452236883 | IFNGR1 | c.333A>T (p.Val111=) c.261A>T (p.Val87=) c.240A>T (p.Val80=) c.363A>T (p.Val121=) c.*262A>T (n.*262A>T) c.309A>T (p.Val103=) c.279A>T (p.Val93=) c.306A>T (p.Val102=) c.483A>T (n.483A>T) c.472A>T | |
| 6 | g.137206146T>C | CA452236884 | IFNGR1 | c.333A>G (p.Val111=) c.261A>G (p.Val87=) c.240A>G (p.Val80=) c.363A>G (p.Val121=) c.*262A>G (n.*262A>G) c.309A>G (p.Val103=) c.279A>G (p.Val93=) c.306A>G (p.Val102=) c.483A>G (n.483A>G) c.472A>G | COSMIC COSMIC |
| 6 | g.137206146T>G | CA452236885 | IFNGR1 | c.333A>C (p.Val111=) c.261A>C (p.Val87=) c.240A>C (p.Val80=) c.363A>C (p.Val121=) c.*262A>C (n.*262A>C) c.309A>C (p.Val103=) c.279A>C (p.Val93=) c.306A>C (p.Val102=) c.483A>C (n.483A>C) c.472A>C | |
| 6 | g.137206147A>C | CA365775601 | IFNGR1 | c.332T>G (p.Val111Gly) c.260T>G (p.Val87Gly) c.239T>G (p.Val80Gly) c.362T>G (p.Val121Gly) c.*261T>G (n.*261T>G) c.308T>G (p.Val103Gly) c.278T>G (p.Val93Gly) c.305T>G (p.Val102Gly) c.482T>G (n.482T>G) c.471T>G | |
| 6 | g.137206147A>G | CA365775602 | IFNGR1 | c.332T>C (p.Val111Ala) c.260T>C (p.Val87Ala) c.239T>C (p.Val80Ala) c.362T>C (p.Val121Ala) c.*261T>C (n.*261T>C) c.308T>C (p.Val103Ala) c.278T>C (p.Val93Ala) c.305T>C (p.Val102Ala) c.482T>C (n.482T>C) c.471T>C | |
| 6 | g.137206147A>T | CA365775603 | IFNGR1 | c.332T>A (p.Val111Glu) c.260T>A (p.Val87Glu) c.239T>A (p.Val80Glu) c.362T>A (p.Val121Glu) c.*261T>A (n.*261T>A) c.308T>A (p.Val103Glu) c.278T>A (p.Val93Glu) c.305T>A (p.Val102Glu) c.482T>A (n.482T>A) c.471T>A | |
| 6 | g.137206148C>A | CA365775604 | IFNGR1 | c.331G>T (p.Val111Leu) c.259G>T (p.Val87Leu) c.238G>T (p.Val80Leu) c.361G>T (p.Val121Leu) c.*260G>T (n.*260G>T) c.307G>T (p.Val103Leu) c.277G>T (p.Val93Leu) c.304G>T (p.Val102Leu) c.481G>T (n.481G>T) c.470G>T | |
| 6 | g.137206148C>G | CA365775605 | IFNGR1 | c.331G>C (p.Val111Leu) c.259G>C (p.Val87Leu) c.238G>C (p.Val80Leu) c.361G>C (p.Val121Leu) c.*260G>C (n.*260G>C) c.307G>C (p.Val103Leu) c.277G>C (p.Val93Leu) c.304G>C (p.Val102Leu) c.481G>C (n.481G>C) c.470G>C | |
| 6 | g.137206148C>T | CA365775606 | IFNGR1 | c.331G>A (p.Val111Ile) c.259G>A (p.Val87Ile) c.238G>A (p.Val80Ile) c.361G>A (p.Val121Ile) c.*260G>A (n.*260G>A) c.307G>A (p.Val103Ile) c.277G>A (p.Val93Ile) c.304G>A (p.Val102Ile) c.481G>A (n.481G>A) c.470G>A | dbSNP |
| 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 | |
| 6 | g.137206164C= | CA1666386025 | IFNGR1 | c.315G= (p.Lys105=) c.243G= (p.Lys81=) c.222G= (p.Lys74=) c.345G= (p.Lys115=) c.*244G= (n.*244G=) c.291G= (p.Lys97=) c.261G= (p.Lys87=) c.288G= (p.Lys96=) c.465G= (n.465G=) c.454G= | |
| 6 | g.137206164C>G | CA365775643 | IFNGR1 | c.315G>C (p.Lys105Asn) c.243G>C (p.Lys81Asn) c.222G>C (p.Lys74Asn) c.345G>C (p.Lys115Asn) c.*244G>C (n.*244G>C) c.291G>C (p.Lys97Asn) c.261G>C (p.Lys87Asn) c.288G>C (p.Lys96Asn) c.465G>C (n.465G>C) c.454G>C | |
| 6 | g.137206164C>T | CA4018993 | IFNGR1 | c.315G>A (p.Lys105=) c.243G>A (p.Lys81=) c.222G>A (p.Lys74=) c.345G>A (p.Lys115=) c.*244G>A (n.*244G>A) c.291G>A (p.Lys97=) c.261G>A (p.Lys87=) c.288G>A (p.Lys96=) c.465G>A (n.465G>A) c.454G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137206165T>A | CA365775644 | IFNGR1 | c.314A>T (p.Lys105Met) c.242A>T (p.Lys81Met) c.221A>T (p.Lys74Met) c.344A>T (p.Lys115Met) c.*243A>T (n.*243A>T) c.290A>T (p.Lys97Met) c.260A>T (p.Lys87Met) c.287A>T (p.Lys96Met) c.464A>T (n.464A>T) c.453A>T | |
| 6 | g.137206165T>C | CA365775645 | IFNGR1 | c.314A>G (p.Lys105Arg) c.242A>G (p.Lys81Arg) c.221A>G (p.Lys74Arg) c.344A>G (p.Lys115Arg) c.*243A>G (n.*243A>G) c.290A>G (p.Lys97Arg) c.260A>G (p.Lys87Arg) c.287A>G (p.Lys96Arg) c.464A>G (n.464A>G) c.453A>G | |
| 6 | g.137206165T>G | CA365775646 | IFNGR1 | c.314A>C (p.Lys105Thr) c.242A>C (p.Lys81Thr) c.221A>C (p.Lys74Thr) c.344A>C (p.Lys115Thr) c.*243A>C (n.*243A>C) c.290A>C (p.Lys97Thr) c.260A>C (p.Lys87Thr) c.287A>C (p.Lys96Thr) c.464A>C (n.464A>C) c.453A>C | |
| 6 | g.137206166T>A | CA365775647 | IFNGR1 | c.313A>T (p.Lys105Ter) c.241A>T (p.Lys81Ter) c.220A>T (p.Lys74Ter) c.343A>T (p.Lys115Ter) c.*242A>T (n.*242A>T) c.289A>T (p.Lys97Ter) c.259A>T (p.Lys87Ter) c.286A>T (p.Lys96Ter) c.463A>T (n.463A>T) c.452A>T | |
| 6 | g.137206166T>C | CA365775648 | IFNGR1 | c.313A>G (p.Lys105Glu) c.241A>G (p.Lys81Glu) c.220A>G (p.Lys74Glu) c.343A>G (p.Lys115Glu) c.*242A>G (n.*242A>G) c.289A>G (p.Lys97Glu) c.259A>G (p.Lys87Glu) c.286A>G (p.Lys96Glu) c.463A>G (n.463A>G) c.452A>G | |
| 6 | g.137206166T>G | CA365775649 | IFNGR1 | c.313A>C (p.Lys105Gln) c.241A>C (p.Lys81Gln) c.220A>C (p.Lys74Gln) c.343A>C (p.Lys115Gln) c.*242A>C (n.*242A>C) c.289A>C (p.Lys97Gln) c.259A>C (p.Lys87Gln) c.286A>C (p.Lys96Gln) c.463A>C (n.463A>C) c.452A>C | |
| 6 | g.137206167T>A | CA452236895 | IFNGR1 | c.312A>T (p.Ala104=) c.240A>T (p.Ala80=) c.219A>T (p.Ala73=) c.342A>T (p.Ala114=) c.*241A>T (n.*241A>T) c.288A>T (p.Ala96=) c.258A>T (p.Ala86=) c.285A>T (p.Ala95=) c.462A>T (n.462A>T) c.451A>T | |
| 6 | g.137206167T>C | CA452236896 | IFNGR1 | c.312A>G (p.Ala104=) c.240A>G (p.Ala80=) c.219A>G (p.Ala73=) c.342A>G (p.Ala114=) c.*241A>G (n.*241A>G) c.288A>G (p.Ala96=) c.258A>G (p.Ala86=) c.285A>G (p.Ala95=) c.462A>G (n.462A>G) c.451A>G | |
| 6 | g.137206167T>G | CA452236897 | IFNGR1 | c.312A>C (p.Ala104=) c.240A>C (p.Ala80=) c.219A>C (p.Ala73=) c.342A>C (p.Ala114=) c.*241A>C (n.*241A>C) c.288A>C (p.Ala96=) c.258A>C (p.Ala86=) c.285A>C (p.Ala95=) c.462A>C (n.462A>C) c.451A>C | |
| 6 | g.137206168G>A | CA365775652 | IFNGR1 | c.311C>T (p.Ala104Val) c.239C>T (p.Ala80Val) c.218C>T (p.Ala73Val) c.341C>T (p.Ala114Val) c.*240C>T (n.*240C>T) c.287C>T (p.Ala96Val) c.257C>T (p.Ala86Val) c.284C>T (p.Ala95Val) c.461C>T (n.461C>T) c.450C>T | dbSNP |
| 6 | g.137206168G>C | CA365775651 | IFNGR1 | c.311C>G (p.Ala104Gly) c.239C>G (p.Ala80Gly) c.218C>G (p.Ala73Gly) c.341C>G (p.Ala114Gly) c.*240C>G (n.*240C>G) c.287C>G (p.Ala96Gly) c.257C>G (p.Ala86Gly) c.284C>G (p.Ala95Gly) c.461C>G (n.461C>G) c.450C>G | |
| 6 | g.137206168G>T | CA365775650 | IFNGR1 | c.311C>A (p.Ala104Glu) c.239C>A (p.Ala80Glu) c.218C>A (p.Ala73Glu) c.341C>A (p.Ala114Glu) c.*240C>A (n.*240C>A) c.287C>A (p.Ala96Glu) c.257C>A (p.Ala86Glu) c.284C>A (p.Ala95Glu) c.461C>A (n.461C>A) c.450C>A | |
| 6 | g.137206169C>A | CA365775653 | IFNGR1 | c.310G>T (p.Ala104Ser) c.238G>T (p.Ala80Ser) c.217G>T (p.Ala73Ser) c.340G>T (p.Ala114Ser) c.*239G>T (n.*239G>T) c.286G>T (p.Ala96Ser) c.256G>T (p.Ala86Ser) c.283G>T (p.Ala95Ser) c.460G>T (n.460G>T) c.449G>T | |
| 6 | g.137206169C>G | CA365775655 | IFNGR1 | c.310G>C (p.Ala104Pro) c.238G>C (p.Ala80Pro) c.217G>C (p.Ala73Pro) c.340G>C (p.Ala114Pro) c.*239G>C (n.*239G>C) c.286G>C (p.Ala96Pro) c.256G>C (p.Ala86Pro) c.283G>C (p.Ala95Pro) c.460G>C (n.460G>C) c.449G>C | |
| 6 | g.137206169C>T | CA365775654 | IFNGR1 | c.310G>A (p.Ala104Thr) c.238G>A (p.Ala80Thr) c.217G>A (p.Ala73Thr) c.340G>A (p.Ala114Thr) c.*239G>A (n.*239G>A) c.286G>A (p.Ala96Thr) c.256G>A (p.Ala86Thr) c.283G>A (p.Ala95Thr) c.460G>A (n.460G>A) c.449G>A | dbSNP |
| 6 | g.137206170A>C | CA365775656 | IFNGR1 | c.309T>G (p.Tyr103Ter) c.237T>G (p.Tyr79Ter) c.216T>G (p.Tyr72Ter) c.339T>G (p.Tyr113Ter) c.*238T>G (n.*238T>G) c.285T>G (p.Tyr95Ter) c.255T>G (p.Tyr85Ter) c.282T>G (p.Tyr94Ter) c.459T>G (n.459T>G) c.448T>G | |
| 6 | g.137206170A>G | CA452236898 | IFNGR1 | c.309T>C (p.Tyr103=) c.237T>C (p.Tyr79=) c.216T>C (p.Tyr72=) c.339T>C (p.Tyr113=) c.*238T>C (n.*238T>C) c.285T>C (p.Tyr95=) c.255T>C (p.Tyr85=) c.282T>C (p.Tyr94=) c.459T>C (n.459T>C) c.448T>C | |
| 6 | g.137206170A>T | CA365775657 | IFNGR1 | c.309T>A (p.Tyr103Ter) c.237T>A (p.Tyr79Ter) c.216T>A (p.Tyr72Ter) c.339T>A (p.Tyr113Ter) c.*238T>A (n.*238T>A) c.285T>A (p.Tyr95Ter) c.255T>A (p.Tyr85Ter) c.282T>A (p.Tyr94Ter) c.459T>A (n.459T>A) c.448T>A | |
| 6 | g.137206171T>A | CA365775658 | IFNGR1 | c.308A>T (p.Tyr103Phe) c.236A>T (p.Tyr79Phe) c.215A>T (p.Tyr72Phe) c.338A>T (p.Tyr113Phe) c.*237A>T (n.*237A>T) c.284A>T (p.Tyr95Phe) c.254A>T (p.Tyr85Phe) c.281A>T (p.Tyr94Phe) c.458A>T (n.458A>T) c.447A>T | |
| 6 | g.137206171T>C | CA365775659 | IFNGR1 | c.308A>G (p.Tyr103Cys) c.236A>G (p.Tyr79Cys) c.215A>G (p.Tyr72Cys) c.338A>G (p.Tyr113Cys) c.*237A>G (n.*237A>G) c.284A>G (p.Tyr95Cys) c.254A>G (p.Tyr85Cys) c.281A>G (p.Tyr94Cys) c.458A>G (n.458A>G) c.447A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137206171T>G | CA365775660 | IFNGR1 | c.308A>C (p.Tyr103Ser) c.236A>C (p.Tyr79Ser) c.215A>C (p.Tyr72Ser) c.338A>C (p.Tyr113Ser) c.*237A>C (n.*237A>C) c.284A>C (p.Tyr95Ser) c.254A>C (p.Tyr85Ser) c.281A>C (p.Tyr94Ser) c.458A>C (n.458A>C) c.447A>C | |
| 6 | g.137206171T= | CA1666386026 | IFNGR1 | c.308A= (p.Tyr103=) c.236A= (p.Tyr79=) c.215A= (p.Tyr72=) c.338A= (p.Tyr113=) c.*237A= (n.*237A=) c.284A= (p.Tyr95=) c.254A= (p.Tyr85=) c.281A= (p.Tyr94=) c.458A= (n.458A=) c.447A= | |
| 6 | g.137206172A>C | CA365775661 | IFNGR1 | c.307T>G (p.Tyr103Asp) c.235T>G (p.Tyr79Asp) c.214T>G (p.Tyr72Asp) c.337T>G (p.Tyr113Asp) c.*236T>G (n.*236T>G) c.283T>G (p.Tyr95Asp) c.253T>G (p.Tyr85Asp) c.280T>G (p.Tyr94Asp) c.457T>G (n.457T>G) c.446T>G | |
| 6 | g.137206172A>G | CA365775662 | IFNGR1 | c.307T>C (p.Tyr103His) c.235T>C (p.Tyr79His) c.214T>C (p.Tyr72His) c.337T>C (p.Tyr113His) c.*236T>C (n.*236T>C) c.283T>C (p.Tyr95His) c.253T>C (p.Tyr85His) c.280T>C (p.Tyr94His) c.457T>C (n.457T>C) c.446T>C | |
| 6 | g.137206172A>T | CA365775663 | IFNGR1 | c.307T>A (p.Tyr103Asn) c.235T>A (p.Tyr79Asn) c.214T>A (p.Tyr72Asn) c.337T>A (p.Tyr113Asn) c.*236T>A (n.*236T>A) c.283T>A (p.Tyr95Asn) c.253T>A (p.Tyr85Asn) c.280T>A (p.Tyr94Asn) c.457T>A (n.457T>A) c.446T>A | |
| 6 | g.137206173G>A | CA4018994 | IFNGR1 | c.306C>T (p.Ala102=) c.234C>T (p.Ala78=) c.213C>T (p.Ala71=) c.336C>T (p.Ala112=) c.*235C>T (n.*235C>T) c.282C>T (p.Ala94=) c.252C>T (p.Ala84=) c.279C>T (p.Ala93=) c.456C>T (n.456C>T) c.445C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137206173G>C | CA452236899 | IFNGR1 | c.306C>G (p.Ala102=) c.234C>G (p.Ala78=) c.213C>G (p.Ala71=) c.336C>G (p.Ala112=) c.*235C>G (n.*235C>G) c.282C>G (p.Ala94=) c.252C>G (p.Ala84=) c.279C>G (p.Ala93=) c.456C>G (n.456C>G) c.445C>G | |
| 6 | g.137206173G= | CA1666386027 | IFNGR1 | c.306C= (p.Ala102=) c.234C= (p.Ala78=) c.213C= (p.Ala71=) c.336C= (p.Ala112=) c.*235C= (n.*235C=) c.282C= (p.Ala94=) c.252C= (p.Ala84=) c.279C= (p.Ala93=) c.456C= (n.456C=) c.445C= | |
| 6 | g.137206173G>T | CA452236900 | IFNGR1 | c.306C>A (p.Ala102=) c.234C>A (p.Ala78=) c.213C>A (p.Ala71=) c.336C>A (p.Ala112=) c.*235C>A (n.*235C>A) c.282C>A (p.Ala94=) c.252C>A (p.Ala84=) c.279C>A (p.Ala93=) c.456C>A (n.456C>A) c.445C>A | |
| 6 | g.137206174G>A | CA365775664 | IFNGR1 | c.305C>T (p.Ala102Val) c.233C>T (p.Ala78Val) c.212C>T (p.Ala71Val) c.335C>T (p.Ala112Val) c.*234C>T (n.*234C>T) c.281C>T (p.Ala94Val) c.251C>T (p.Ala84Val) c.278C>T (p.Ala93Val) c.455C>T (n.455C>T) c.444C>T | dbSNP |
| 6 | g.137206174G>C | CA365775665 | IFNGR1 | c.305C>G (p.Ala102Gly) c.233C>G (p.Ala78Gly) c.212C>G (p.Ala71Gly) c.335C>G (p.Ala112Gly) c.*234C>G (n.*234C>G) c.281C>G (p.Ala94Gly) c.251C>G (p.Ala84Gly) c.278C>G (p.Ala93Gly) c.455C>G (n.455C>G) c.444C>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.137206174G= | CA1666386028 | IFNGR1 | c.305C= (p.Ala102=) c.233C= (p.Ala78=) c.212C= (p.Ala71=) c.335C= (p.Ala112=) c.*234C= (n.*234C=) c.281C= (p.Ala94=) c.251C= (p.Ala84=) c.278C= (p.Ala93=) c.455C= (n.455C=) c.444C= | |
| 6 | g.137206174G>T | CA365775666 | IFNGR1 | c.305C>A (p.Ala102Asp) c.233C>A (p.Ala78Asp) c.212C>A (p.Ala71Asp) c.335C>A (p.Ala112Asp) c.*234C>A (n.*234C>A) c.281C>A (p.Ala94Asp) c.251C>A (p.Ala84Asp) c.278C>A (p.Ala93Asp) c.455C>A (n.455C>A) c.444C>A | |
| 6 | g.137206175C>A | CA365775669 | IFNGR1 | c.304G>T (p.Ala102Ser) c.232G>T (p.Ala78Ser) c.211G>T (p.Ala71Ser) c.334G>T (p.Ala112Ser) c.*233G>T (n.*233G>T) c.280G>T (p.Ala94Ser) c.250G>T (p.Ala84Ser) c.277G>T (p.Ala93Ser) c.454G>T (n.454G>T) c.443G>T | |
| 6 | g.137206175C>G | CA365775667 | IFNGR1 | c.304G>C (p.Ala102Pro) c.232G>C (p.Ala78Pro) c.211G>C (p.Ala71Pro) c.334G>C (p.Ala112Pro) c.*233G>C (n.*233G>C) c.280G>C (p.Ala94Pro) c.250G>C (p.Ala84Pro) c.277G>C (p.Ala93Pro) c.454G>C (n.454G>C) c.443G>C | |
| 6 | g.137206175C>T | CA365775668 | IFNGR1 | c.304G>A (p.Ala102Thr) c.232G>A (p.Ala78Thr) c.211G>A (p.Ala71Thr) c.334G>A (p.Ala112Thr) c.*233G>A (n.*233G>A) c.280G>A (p.Ala94Thr) c.250G>A (p.Ala84Thr) c.277G>A (p.Ala93Thr) c.454G>A (n.454G>A) c.443G>A | |
| 6 | g.137206176A>C | CA452236901 | IFNGR1 | c.303T>G (p.Ser101=) c.231T>G (p.Ser77=) c.210T>G (p.Ser70=) c.333T>G (p.Ser111=) c.*232T>G (n.*232T>G) c.279T>G (p.Ser93=) c.249T>G (p.Ser83=) c.276T>G (p.Ser92=) c.453T>G (n.453T>G) c.442T>G | |
| 6 | g.137206176A>G | CA452236902 | IFNGR1 | c.303T>C (p.Ser101=) c.231T>C (p.Ser77=) c.210T>C (p.Ser70=) c.333T>C (p.Ser111=) c.*232T>C (n.*232T>C) c.279T>C (p.Ser93=) c.249T>C (p.Ser83=) c.276T>C (p.Ser92=) c.453T>C (n.453T>C) c.442T>C | gnomAD v4 |
| 6 | g.137206176A>T | CA452236903 | IFNGR1 | c.303T>A (p.Ser101=) c.231T>A (p.Ser77=) c.210T>A (p.Ser70=) c.333T>A (p.Ser111=) c.*232T>A (n.*232T>A) c.279T>A (p.Ser93=) c.249T>A (p.Ser83=) c.276T>A (p.Ser92=) c.453T>A (n.453T>A) c.442T>A | |
| 6 | g.137206177G>A | CA365775670 | IFNGR1 | c.302C>T (p.Ser101Phe) c.230C>T (p.Ser77Phe) c.209C>T (p.Ser70Phe) c.332C>T (p.Ser111Phe) c.*231C>T (n.*231C>T) c.278C>T (p.Ser93Phe) c.248C>T (p.Ser83Phe) c.275C>T (p.Ser92Phe) c.452C>T (n.452C>T) c.441C>T | |
| 6 | g.137206177G>C | CA365775671 | IFNGR1 | c.302C>G (p.Ser101Cys) c.230C>G (p.Ser77Cys) c.209C>G (p.Ser70Cys) c.332C>G (p.Ser111Cys) c.*231C>G (n.*231C>G) c.278C>G (p.Ser93Cys) c.248C>G (p.Ser83Cys) c.275C>G (p.Ser92Cys) c.452C>G (n.452C>G) c.441C>G | COSMIC COSMIC |
| 6 | g.137206177G>T | CA365775672 | IFNGR1 | c.302C>A (p.Ser101Tyr) c.230C>A (p.Ser77Tyr) c.209C>A (p.Ser70Tyr) c.332C>A (p.Ser111Tyr) c.*231C>A (n.*231C>A) c.278C>A (p.Ser93Tyr) c.248C>A (p.Ser83Tyr) c.275C>A (p.Ser92Tyr) c.452C>A (n.452C>A) c.441C>A | |
| 6 | g.137206178A>C | CA365775673 | IFNGR1 | c.301T>G (p.Ser101Ala) c.229T>G (p.Ser77Ala) c.208T>G (p.Ser70Ala) c.331T>G (p.Ser111Ala) c.*230T>G (n.*230T>G) c.277T>G (p.Ser93Ala) c.247T>G (p.Ser83Ala) c.274T>G (p.Ser92Ala) c.451T>G (n.451T>G) c.440T>G | |
| 6 | g.137206178A>G | CA365775674 | IFNGR1 | c.301T>C (p.Ser101Pro) c.229T>C (p.Ser77Pro) c.208T>C (p.Ser70Pro) c.331T>C (p.Ser111Pro) c.*230T>C (n.*230T>C) c.277T>C (p.Ser93Pro) c.247T>C (p.Ser83Pro) c.274T>C (p.Ser92Pro) c.451T>C (n.451T>C) c.440T>C | |
| 6 | g.137206178A>T | CA365775675 | IFNGR1 | c.301T>A (p.Ser101Thr) c.229T>A (p.Ser77Thr) c.208T>A (p.Ser70Thr) c.331T>A (p.Ser111Thr) c.*230T>A (n.*230T>A) c.277T>A (p.Ser93Thr) c.247T>A (p.Ser83Thr) c.274T>A (p.Ser92Thr) c.451T>A (n.451T>A) c.440T>A | |
| 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 |