Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18069517G>A | CA2583510265 | IL12RB1 | c.1189+29C>T (n.1189+29C>T) c.1309+29C>T (n.1309+29C>T) c.1342+29C>T (n.1342+29C>T) c.1330+29C>T (n.1330+29C>T) c.1321+29C>T (n.1321+29C>T) c.1222+29C>T (n.1222+29C>T) c.1210+29C>T (n.1210+29C>T) c.607+29C>T (n.607+29C>T) | gnomAD v4 |
19 | g.18069517G>C | CA9304933 | IL12RB1 | c.1189+29C>G (n.1189+29C>G) c.1309+29C>G (n.1309+29C>G) c.1342+29C>G (n.1342+29C>G) c.1330+29C>G (n.1330+29C>G) c.1321+29C>G (n.1321+29C>G) c.1222+29C>G (n.1222+29C>G) c.1210+29C>G (n.1210+29C>G) c.607+29C>G (n.607+29C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069517G= | CA2326169801 | IL12RB1 | c.1189+29C= (n.1189+29C=) c.1309+29C= (n.1309+29C=) c.1342+29C= (n.1342+29C=) c.1330+29C= (n.1330+29C=) c.1321+29C= (n.1321+29C=) c.1222+29C= (n.1222+29C=) c.1210+29C= (n.1210+29C=) c.607+29C= (n.607+29C=) | |
19 | g.18069517G>T | CA2583510264 | IL12RB1 | c.1189+29C>A (n.1189+29C>A) c.1309+29C>A (n.1309+29C>A) c.1342+29C>A (n.1342+29C>A) c.1330+29C>A (n.1330+29C>A) c.1321+29C>A (n.1321+29C>A) c.1222+29C>A (n.1222+29C>A) c.1210+29C>A (n.1210+29C>A) c.607+29C>A (n.607+29C>A) | gnomAD v4 |
19 | g.18069518G>A | CA9304934 | IL12RB1 | c.1189+28C>T (n.1189+28C>T) c.1309+28C>T (n.1309+28C>T) c.1342+28C>T (n.1342+28C>T) c.1330+28C>T (n.1330+28C>T) c.1321+28C>T (n.1321+28C>T) c.1222+28C>T (n.1222+28C>T) c.1210+28C>T (n.1210+28C>T) c.607+28C>T (n.607+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18069518G= | CA2326169802 | IL12RB1 | c.1189+28C= (n.1189+28C=) c.1309+28C= (n.1309+28C=) c.1342+28C= (n.1342+28C=) c.1330+28C= (n.1330+28C=) c.1321+28C= (n.1321+28C=) c.1222+28C= (n.1222+28C=) c.1210+28C= (n.1210+28C=) c.607+28C= (n.607+28C=) | |
19 | g.18069518G>T | CA632136925 | IL12RB1 | c.1189+28C>A (n.1189+28C>A) c.1309+28C>A (n.1309+28C>A) c.1342+28C>A (n.1342+28C>A) c.1330+28C>A (n.1330+28C>A) c.1321+28C>A (n.1321+28C>A) c.1222+28C>A (n.1222+28C>A) c.1210+28C>A (n.1210+28C>A) c.607+28C>A (n.607+28C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069519T>A | CA2583510266 | IL12RB1 | c.1189+27A>T (n.1189+27A>T) c.1309+27A>T (n.1309+27A>T) c.1342+27A>T (n.1342+27A>T) c.1330+27A>T (n.1330+27A>T) c.1321+27A>T (n.1321+27A>T) c.1222+27A>T (n.1222+27A>T) c.1210+27A>T (n.1210+27A>T) c.607+27A>T (n.607+27A>T) | gnomAD v4 |
19 | g.18069519T>C | CA2583510267 | IL12RB1 | c.1189+27A>G (n.1189+27A>G) c.1309+27A>G (n.1309+27A>G) c.1342+27A>G (n.1342+27A>G) c.1330+27A>G (n.1330+27A>G) c.1321+27A>G (n.1321+27A>G) c.1222+27A>G (n.1222+27A>G) c.1210+27A>G (n.1210+27A>G) c.607+27A>G (n.607+27A>G) | gnomAD v4 |
19 | g.18069519T>G | CA2326169804 | IL12RB1 | c.1189+27A>C (n.1189+27A>C) c.1309+27A>C (n.1309+27A>C) c.1342+27A>C (n.1342+27A>C) c.1330+27A>C (n.1330+27A>C) c.1321+27A>C (n.1321+27A>C) c.1222+27A>C (n.1222+27A>C) c.1210+27A>C (n.1210+27A>C) c.607+27A>C (n.607+27A>C) | dbSNP |
19 | g.18069519T= | CA2326169803 | IL12RB1 | c.1189+27A= (n.1189+27A=) c.1309+27A= (n.1309+27A=) c.1342+27A= (n.1342+27A=) c.1330+27A= (n.1330+27A=) c.1321+27A= (n.1321+27A=) c.1222+27A= (n.1222+27A=) c.1210+27A= (n.1210+27A=) c.607+27A= (n.607+27A=) | |
19 | g.18069520A>G | CA2583510268 | IL12RB1 | c.1189+26T>C (n.1189+26T>C) c.1309+26T>C (n.1309+26T>C) c.1342+26T>C (n.1342+26T>C) c.1330+26T>C (n.1330+26T>C) c.1321+26T>C (n.1321+26T>C) c.1222+26T>C (n.1222+26T>C) c.1210+26T>C (n.1210+26T>C) c.607+26T>C (n.607+26T>C) | gnomAD v4 |
19 | g.18069521G>T | CA2583510269 | IL12RB1 | c.1189+25C>A (n.1189+25C>A) c.1309+25C>A (n.1309+25C>A) c.1342+25C>A (n.1342+25C>A) c.1330+25C>A (n.1330+25C>A) c.1321+25C>A (n.1321+25C>A) c.1222+25C>A (n.1222+25C>A) c.1210+25C>A (n.1210+25C>A) c.607+25C>A (n.607+25C>A) | gnomAD v4 |
19 | g.18069522G>A | CA632136926 | IL12RB1 | c.1189+24C>T (n.1189+24C>T) c.1309+24C>T (n.1309+24C>T) c.1342+24C>T (n.1342+24C>T) c.1330+24C>T (n.1330+24C>T) c.1321+24C>T (n.1321+24C>T) c.1222+24C>T (n.1222+24C>T) c.1210+24C>T (n.1210+24C>T) c.607+24C>T (n.607+24C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069522G= | CA2326169805 | IL12RB1 | c.1189+24C= (n.1189+24C=) c.1309+24C= (n.1309+24C=) c.1342+24C= (n.1342+24C=) c.1330+24C= (n.1330+24C=) c.1321+24C= (n.1321+24C=) c.1222+24C= (n.1222+24C=) c.1210+24C= (n.1210+24C=) c.607+24C= (n.607+24C=) | |
19 | g.18069523C>A | CA783899768 | IL12RB1 | c.1189+23G>T (n.1189+23G>T) c.1309+23G>T (n.1309+23G>T) c.1342+23G>T (n.1342+23G>T) c.1330+23G>T (n.1330+23G>T) c.1321+23G>T (n.1321+23G>T) c.1222+23G>T (n.1222+23G>T) c.1210+23G>T (n.1210+23G>T) c.607+23G>T (n.607+23G>T) | dbSNP gnomAD v4 |
19 | g.18069523C= | CA2326169806 | IL12RB1 | c.1189+23G= (n.1189+23G=) c.1309+23G= (n.1309+23G=) c.1342+23G= (n.1342+23G=) c.1330+23G= (n.1330+23G=) c.1321+23G= (n.1321+23G=) c.1222+23G= (n.1222+23G=) c.1210+23G= (n.1210+23G=) c.607+23G= (n.607+23G=) | |
19 | g.18069523C>G | CA2735646357 | IL12RB1 | c.1189+23G>C (n.1189+23G>C) c.1309+23G>C (n.1309+23G>C) c.1342+23G>C (n.1342+23G>C) c.1330+23G>C (n.1330+23G>C) c.1321+23G>C (n.1321+23G>C) c.1222+23G>C (n.1222+23G>C) c.1210+23G>C (n.1210+23G>C) c.607+23G>C (n.607+23G>C) | dbSNP |
19 | g.18069523C>T | CA632136927 | IL12RB1 | c.1189+23G>A (n.1189+23G>A) c.1309+23G>A (n.1309+23G>A) c.1342+23G>A (n.1342+23G>A) c.1330+23G>A (n.1330+23G>A) c.1321+23G>A (n.1321+23G>A) c.1222+23G>A (n.1222+23G>A) c.1210+23G>A (n.1210+23G>A) c.607+23G>A (n.607+23G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069524G>A | CA306162758 | IL12RB1 | c.1189+22C>T (n.1189+22C>T) c.1309+22C>T (n.1309+22C>T) c.1342+22C>T (n.1342+22C>T) c.1330+22C>T (n.1330+22C>T) c.1321+22C>T (n.1321+22C>T) c.1222+22C>T (n.1222+22C>T) c.1210+22C>T (n.1210+22C>T) c.607+22C>T (n.607+22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069524G= | CA2326169807 | IL12RB1 | c.1189+22C= (n.1189+22C=) c.1309+22C= (n.1309+22C=) c.1342+22C= (n.1342+22C=) c.1330+22C= (n.1330+22C=) c.1321+22C= (n.1321+22C=) c.1222+22C= (n.1222+22C=) c.1210+22C= (n.1210+22C=) c.607+22C= (n.607+22C=) | |
19 | g.18069524G>T | CA9304935 | IL12RB1 | c.1189+22C>A (n.1189+22C>A) c.1309+22C>A (n.1309+22C>A) c.1342+22C>A (n.1342+22C>A) c.1330+22C>A (n.1330+22C>A) c.1321+22C>A (n.1321+22C>A) c.1222+22C>A (n.1222+22C>A) c.1210+22C>A (n.1210+22C>A) c.607+22C>A (n.607+22C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.18069525C= | CA2326169808 | IL12RB1 | c.1189+21G= (n.1189+21G=) c.1309+21G= (n.1309+21G=) c.1342+21G= (n.1342+21G=) c.1330+21G= (n.1330+21G=) c.1321+21G= (n.1321+21G=) c.1222+21G= (n.1222+21G=) c.1210+21G= (n.1210+21G=) c.607+21G= (n.607+21G=) | |
19 | g.18069525C>T | CA9304936 | IL12RB1 | c.1189+21G>A (n.1189+21G>A) c.1309+21G>A (n.1309+21G>A) c.1342+21G>A (n.1342+21G>A) c.1330+21G>A (n.1330+21G>A) c.1321+21G>A (n.1321+21G>A) c.1222+21G>A (n.1222+21G>A) c.1210+21G>A (n.1210+21G>A) c.607+21G>A (n.607+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.18069534_18069543del | CA2583510270 | IL12RB1 | c.1189+12_1189+21del (n.1189+12_1189+21del) c.1309+12_1309+21del (n.1309+12_1309+21del) c.1342+12_1342+21del (n.1342+12_1342+21del) c.1330+12_1330+21del (n.1330+12_1330+21del) c.1321+12_1321+21del (n.1321+12_1321+21del) c.1222+12_1222+21del (n.1222+12_1222+21del) c.1210+12_1210+21del (n.1210+12_1210+21del) c.607+12_607+21del (n.607+12_607+21del) | gnomAD v4 |
19 | g.18069526A= | CA2326169809 | IL12RB1 | c.1189+20T= (n.1189+20T=) c.1309+20T= (n.1309+20T=) c.1342+20T= (n.1342+20T=) c.1330+20T= (n.1330+20T=) c.1321+20T= (n.1321+20T=) c.1222+20T= (n.1222+20T=) c.1210+20T= (n.1210+20T=) c.607+20T= (n.607+20T=) | |
19 | g.18069526A>G | CA2583510271 | IL12RB1 | c.1189+20T>C (n.1189+20T>C) c.1309+20T>C (n.1309+20T>C) c.1342+20T>C (n.1342+20T>C) c.1330+20T>C (n.1330+20T>C) c.1321+20T>C (n.1321+20T>C) c.1222+20T>C (n.1222+20T>C) c.1210+20T>C (n.1210+20T>C) c.607+20T>C (n.607+20T>C) | gnomAD v4 |
19 | g.18069526A>T | CA506030046 | IL12RB1 | c.1189+20T>A (n.1189+20T>A) c.1309+20T>A (n.1309+20T>A) c.1342+20T>A (n.1342+20T>A) c.1330+20T>A (n.1330+20T>A) c.1321+20T>A (n.1321+20T>A) c.1222+20T>A (n.1222+20T>A) c.1210+20T>A (n.1210+20T>A) c.607+20T>A (n.607+20T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069527G>T | CA2583510272 | IL12RB1 | c.1189+19C>A (n.1189+19C>A) c.1309+19C>A (n.1309+19C>A) c.1342+19C>A (n.1342+19C>A) c.1330+19C>A (n.1330+19C>A) c.1321+19C>A (n.1321+19C>A) c.1222+19C>A (n.1222+19C>A) c.1210+19C>A (n.1210+19C>A) c.607+19C>A (n.607+19C>A) | gnomAD v4 |
19 | g.18069528G>A | CA2326169811 | IL12RB1 | c.1189+18C>T (n.1189+18C>T) c.1309+18C>T (n.1309+18C>T) c.1342+18C>T (n.1342+18C>T) c.1330+18C>T (n.1330+18C>T) c.1321+18C>T (n.1321+18C>T) c.1222+18C>T (n.1222+18C>T) c.1210+18C>T (n.1210+18C>T) c.607+18C>T (n.607+18C>T) | dbSNP gnomAD v4 |
19 | g.18069528G>C | CA2583510273 | IL12RB1 | c.1189+18C>G (n.1189+18C>G) c.1309+18C>G (n.1309+18C>G) c.1342+18C>G (n.1342+18C>G) c.1330+18C>G (n.1330+18C>G) c.1321+18C>G (n.1321+18C>G) c.1222+18C>G (n.1222+18C>G) c.1210+18C>G (n.1210+18C>G) c.607+18C>G (n.607+18C>G) | gnomAD v4 |
19 | g.18069528G= | CA2326169810 | IL12RB1 | c.1189+18C= (n.1189+18C=) c.1309+18C= (n.1309+18C=) c.1342+18C= (n.1342+18C=) c.1330+18C= (n.1330+18C=) c.1321+18C= (n.1321+18C=) c.1222+18C= (n.1222+18C=) c.1210+18C= (n.1210+18C=) c.607+18C= (n.607+18C=) | |
19 | g.18069528G>T | CA2583510274 | IL12RB1 | c.1189+18C>A (n.1189+18C>A) c.1309+18C>A (n.1309+18C>A) c.1342+18C>A (n.1342+18C>A) c.1330+18C>A (n.1330+18C>A) c.1321+18C>A (n.1321+18C>A) c.1222+18C>A (n.1222+18C>A) c.1210+18C>A (n.1210+18C>A) c.607+18C>A (n.607+18C>A) | gnomAD v4 |
19 | g.18069529C>A | CA2583510275 | IL12RB1 | c.1189+17G>T (n.1189+17G>T) c.1309+17G>T (n.1309+17G>T) c.1342+17G>T (n.1342+17G>T) c.1330+17G>T (n.1330+17G>T) c.1321+17G>T (n.1321+17G>T) c.1222+17G>T (n.1222+17G>T) c.1210+17G>T (n.1210+17G>T) c.607+17G>T (n.607+17G>T) | gnomAD v4 |
19 | g.18069529C>T | CA2583510276 | IL12RB1 | c.1189+17G>A (n.1189+17G>A) c.1309+17G>A (n.1309+17G>A) c.1342+17G>A (n.1342+17G>A) c.1330+17G>A (n.1330+17G>A) c.1321+17G>A (n.1321+17G>A) c.1222+17G>A (n.1222+17G>A) c.1210+17G>A (n.1210+17G>A) c.607+17G>A (n.607+17G>A) | gnomAD v4 |
19 | g.18069530C>A | CA2583510277 | IL12RB1 | c.1189+16G>T (n.1189+16G>T) c.1309+16G>T (n.1309+16G>T) c.1342+16G>T (n.1342+16G>T) c.1330+16G>T (n.1330+16G>T) c.1321+16G>T (n.1321+16G>T) c.1222+16G>T (n.1222+16G>T) c.1210+16G>T (n.1210+16G>T) c.607+16G>T (n.607+16G>T) | gnomAD v4 |
19 | g.18069530C>T | CA2583510278 | IL12RB1 | c.1189+16G>A (n.1189+16G>A) c.1309+16G>A (n.1309+16G>A) c.1342+16G>A (n.1342+16G>A) c.1330+16G>A (n.1330+16G>A) c.1321+16G>A (n.1321+16G>A) c.1222+16G>A (n.1222+16G>A) c.1210+16G>A (n.1210+16G>A) c.607+16G>A (n.607+16G>A) | gnomAD v4 |
19 | g.18069532T>C | CA2576772373 | IL12RB1 | c.1189+14A>G (n.1189+14A>G) c.1309+14A>G (n.1309+14A>G) c.1342+14A>G (n.1342+14A>G) c.1330+14A>G (n.1330+14A>G) c.1321+14A>G (n.1321+14A>G) c.1222+14A>G (n.1222+14A>G) c.1210+14A>G (n.1210+14A>G) c.607+14A>G (n.607+14A>G) | gnomAD v4 |
19 | g.18069534C>G | CA2576772374 | IL12RB1 | c.1189+12G>C (n.1189+12G>C) c.1309+12G>C (n.1309+12G>C) c.1342+12G>C (n.1342+12G>C) c.1330+12G>C (n.1330+12G>C) c.1321+12G>C (n.1321+12G>C) c.1222+12G>C (n.1222+12G>C) c.1210+12G>C (n.1210+12G>C) c.607+12G>C (n.607+12G>C) | gnomAD v4 |
19 | g.18069534C>T | CA2583510279 | IL12RB1 | c.1189+12G>A (n.1189+12G>A) c.1309+12G>A (n.1309+12G>A) c.1342+12G>A (n.1342+12G>A) c.1330+12G>A (n.1330+12G>A) c.1321+12G>A (n.1321+12G>A) c.1222+12G>A (n.1222+12G>A) c.1210+12G>A (n.1210+12G>A) c.607+12G>A (n.607+12G>A) | gnomAD v4 |
19 | g.18069536A>C | CA2583510280 | IL12RB1 | c.1189+10T>G (n.1189+10T>G) c.1309+10T>G (n.1309+10T>G) c.1342+10T>G (n.1342+10T>G) c.1330+10T>G (n.1330+10T>G) c.1321+10T>G (n.1321+10T>G) c.1222+10T>G (n.1222+10T>G) c.1210+10T>G (n.1210+10T>G) c.607+10T>G (n.607+10T>G) | gnomAD v4 |
19 | g.18069536A>G | CA2583510281 | IL12RB1 | c.1189+10T>C (n.1189+10T>C) c.1309+10T>C (n.1309+10T>C) c.1342+10T>C (n.1342+10T>C) c.1330+10T>C (n.1330+10T>C) c.1321+10T>C (n.1321+10T>C) c.1222+10T>C (n.1222+10T>C) c.1210+10T>C (n.1210+10T>C) c.607+10T>C (n.607+10T>C) | gnomAD v4 |
19 | g.18069537G>A | CA2576772375 | IL12RB1 | c.1189+9C>T (n.1189+9C>T) c.1309+9C>T (n.1309+9C>T) c.1342+9C>T (n.1342+9C>T) c.1330+9C>T (n.1330+9C>T) c.1321+9C>T (n.1321+9C>T) c.1222+9C>T (n.1222+9C>T) c.1210+9C>T (n.1210+9C>T) c.607+9C>T (n.607+9C>T) | gnomAD v4 |
19 | g.18069537G>T | CA2583510282 | IL12RB1 | c.1189+9C>A (n.1189+9C>A) c.1309+9C>A (n.1309+9C>A) c.1342+9C>A (n.1342+9C>A) c.1330+9C>A (n.1330+9C>A) c.1321+9C>A (n.1321+9C>A) c.1222+9C>A (n.1222+9C>A) c.1210+9C>A (n.1210+9C>A) c.607+9C>A (n.607+9C>A) | gnomAD v4 |
19 | g.18069538G= | CA2326169812 | IL12RB1 | c.1189+8C= (n.1189+8C=) c.1309+8C= (n.1309+8C=) c.1342+8C= (n.1342+8C=) c.1330+8C= (n.1330+8C=) c.1321+8C= (n.1321+8C=) c.1222+8C= (n.1222+8C=) c.1210+8C= (n.1210+8C=) c.607+8C= (n.607+8C=) | |
19 | g.18069538G>T | CA632136928 | IL12RB1 | c.1189+8C>A (n.1189+8C>A) c.1309+8C>A (n.1309+8C>A) c.1342+8C>A (n.1342+8C>A) c.1330+8C>A (n.1330+8C>A) c.1321+8C>A (n.1321+8C>A) c.1222+8C>A (n.1222+8C>A) c.1210+8C>A (n.1210+8C>A) c.607+8C>A (n.607+8C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069539C>A | CA2583510283 | IL12RB1 | c.1189+7G>T (n.1189+7G>T) c.1309+7G>T (n.1309+7G>T) c.1342+7G>T (n.1342+7G>T) c.1330+7G>T (n.1330+7G>T) c.1321+7G>T (n.1321+7G>T) c.1222+7G>T (n.1222+7G>T) c.1210+7G>T (n.1210+7G>T) c.607+7G>T (n.607+7G>T) | gnomAD v4 |
19 | g.18069539C>T | CA2580096728 | IL12RB1 | c.1189+7G>A (n.1189+7G>A) c.1309+7G>A (n.1309+7G>A) c.1342+7G>A (n.1342+7G>A) c.1330+7G>A (n.1330+7G>A) c.1321+7G>A (n.1321+7G>A) c.1222+7G>A (n.1222+7G>A) c.1210+7G>A (n.1210+7G>A) c.607+7G>A (n.607+7G>A) | ClinVar gnomAD v4 |
19 | g.18069540del | CA2576772376 | IL12RB1 | c.1189+7del (n.1189+7del) c.1309+7del (n.1309+7del) c.1342+7del (n.1342+7del) c.1330+7del (n.1330+7del) c.1321+7del (n.1321+7del) c.1222+7del (n.1222+7del) c.1210+7del (n.1210+7del) c.607+7del (n.607+7del) | |
19 | g.18069540C>T | CA2583510284 | IL12RB1 | c.1189+6G>A (n.1189+6G>A) c.1309+6G>A (n.1309+6G>A) c.1342+6G>A (n.1342+6G>A) c.1330+6G>A (n.1330+6G>A) c.1321+6G>A (n.1321+6G>A) c.1222+6G>A (n.1222+6G>A) c.1210+6G>A (n.1210+6G>A) c.607+6G>A (n.607+6G>A) | gnomAD v4 |
19 | g.18069541A= | CA2326169813 | IL12RB1 | c.1189+5T= (n.1189+5T=) c.1309+5T= (n.1309+5T=) c.1342+5T= (n.1342+5T=) c.1330+5T= (n.1330+5T=) c.1321+5T= (n.1321+5T=) c.1222+5T= (n.1222+5T=) c.1210+5T= (n.1210+5T=) c.607+5T= (n.607+5T=) | |
19 | g.18069541A>C | CA2583510285 | IL12RB1 | c.1189+5T>G (n.1189+5T>G) c.1309+5T>G (n.1309+5T>G) c.1342+5T>G (n.1342+5T>G) c.1330+5T>G (n.1330+5T>G) c.1321+5T>G (n.1321+5T>G) c.1222+5T>G (n.1222+5T>G) c.1210+5T>G (n.1210+5T>G) c.607+5T>G (n.607+5T>G) | gnomAD v4 |
19 | g.18069541A>G | CA2326169814 | IL12RB1 | c.1189+5T>C (n.1189+5T>C) c.1309+5T>C (n.1309+5T>C) c.1342+5T>C (n.1342+5T>C) c.1330+5T>C (n.1330+5T>C) c.1321+5T>C (n.1321+5T>C) c.1222+5T>C (n.1222+5T>C) c.1210+5T>C (n.1210+5T>C) c.607+5T>C (n.607+5T>C) | dbSNP gnomAD v4 |
19 | g.18069542T>C | CA2326169816 | IL12RB1 | c.1189+4A>G (n.1189+4A>G) c.1309+4A>G (n.1309+4A>G) c.1342+4A>G (n.1342+4A>G) c.1330+4A>G (n.1330+4A>G) c.1321+4A>G (n.1321+4A>G) c.1222+4A>G (n.1222+4A>G) c.1210+4A>G (n.1210+4A>G) c.607+4A>G (n.607+4A>G) | dbSNP |
19 | g.18069542T= | CA2326169815 | IL12RB1 | c.1189+4A= (n.1189+4A=) c.1309+4A= (n.1309+4A=) c.1342+4A= (n.1342+4A=) c.1330+4A= (n.1330+4A=) c.1321+4A= (n.1321+4A=) c.1222+4A= (n.1222+4A=) c.1210+4A= (n.1210+4A=) c.607+4A= (n.607+4A=) | |
19 | g.18069543T>C | CA632136929 | IL12RB1 | c.1189+3A>G (n.1189+3A>G) c.1309+3A>G (n.1309+3A>G) c.1342+3A>G (n.1342+3A>G) c.1330+3A>G (n.1330+3A>G) c.1321+3A>G (n.1321+3A>G) c.1222+3A>G (n.1222+3A>G) c.1210+3A>G (n.1210+3A>G) c.607+3A>G (n.607+3A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069543T= | CA2326169817 | IL12RB1 | c.1189+3A= (n.1189+3A=) c.1309+3A= (n.1309+3A=) c.1342+3A= (n.1342+3A=) c.1330+3A= (n.1330+3A=) c.1321+3A= (n.1321+3A=) c.1222+3A= (n.1222+3A=) c.1210+3A= (n.1210+3A=) c.607+3A= (n.607+3A=) | |
19 | g.18069544A= | CA2326169818 | IL12RB1 | c.1189+2T= (n.1189+2T=) c.1309+2T= (n.1309+2T=) c.1342+2T= (n.1342+2T=) c.1330+2T= (n.1330+2T=) c.1321+2T= (n.1321+2T=) c.1222+2T= (n.1222+2T=) c.1210+2T= (n.1210+2T=) c.607+2T= (n.607+2T=) | |
19 | g.18069544A>C | CA404778409 | IL12RB1 | c.1189+2T>G (n.1189+2T>G) c.1309+2T>G (n.1309+2T>G) c.1342+2T>G (n.1342+2T>G) c.1330+2T>G (n.1330+2T>G) c.1321+2T>G (n.1321+2T>G) c.1222+2T>G (n.1222+2T>G) c.1210+2T>G (n.1210+2T>G) c.607+2T>G (n.607+2T>G) | |
19 | g.18069544A>G | CA404778408 | IL12RB1 | c.1189+2T>C (n.1189+2T>C) c.1309+2T>C (n.1309+2T>C) c.1342+2T>C (n.1342+2T>C) c.1330+2T>C (n.1330+2T>C) c.1321+2T>C (n.1321+2T>C) c.1222+2T>C (n.1222+2T>C) c.1210+2T>C (n.1210+2T>C) c.607+2T>C (n.607+2T>C) | |
19 | g.18069544A>T | CA404778406 | IL12RB1 | c.1189+2T>A (n.1189+2T>A) c.1309+2T>A (n.1309+2T>A) c.1342+2T>A (n.1342+2T>A) c.1330+2T>A (n.1330+2T>A) c.1321+2T>A (n.1321+2T>A) c.1222+2T>A (n.1222+2T>A) c.1210+2T>A (n.1210+2T>A) c.607+2T>A (n.607+2T>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069545C>A | CA404778411 | IL12RB1 | c.1189+1G>T (n.1189+1G>T) c.1309+1G>T (n.1309+1G>T) c.1342+1G>T (n.1342+1G>T) c.1330+1G>T (n.1330+1G>T) c.1321+1G>T (n.1321+1G>T) c.1222+1G>T (n.1222+1G>T) c.1210+1G>T (n.1210+1G>T) c.607+1G>T (n.607+1G>T) | |
19 | g.18069545C>G | CA404778413 | IL12RB1 | c.1189+1G>C (n.1189+1G>C) c.1309+1G>C (n.1309+1G>C) c.1342+1G>C (n.1342+1G>C) c.1330+1G>C (n.1330+1G>C) c.1321+1G>C (n.1321+1G>C) c.1222+1G>C (n.1222+1G>C) c.1210+1G>C (n.1210+1G>C) c.607+1G>C (n.607+1G>C) | |
19 | g.18069545C>T | CA404778415 | IL12RB1 | c.1189+1G>A (n.1189+1G>A) c.1309+1G>A (n.1309+1G>A) c.1342+1G>A (n.1342+1G>A) c.1330+1G>A (n.1330+1G>A) c.1321+1G>A (n.1321+1G>A) c.1222+1G>A (n.1222+1G>A) c.1210+1G>A (n.1210+1G>A) c.607+1G>A (n.607+1G>A) | gnomAD v4 |
19 | g.18069546C>A | CA404778416 | IL12RB1 | c.1189G>T (p.Ala397Ser) c.1309G>T (p.Ala437Ser) c.1342G>T (p.Ala448Ser) c.1330G>T (p.Ala444Ser) c.1321G>T (p.Ala441Ser) c.1222G>T (p.Ala408Ser) c.1210G>T (p.Ala404Ser) c.607G>T (p.Ala203Ser) | |
19 | g.18069546C>G | CA404778418 | IL12RB1 | c.1189G>C (p.Ala397Pro) c.1309G>C (p.Ala437Pro) c.1342G>C (p.Ala448Pro) c.1330G>C (p.Ala444Pro) c.1321G>C (p.Ala441Pro) c.1222G>C (p.Ala408Pro) c.1210G>C (p.Ala404Pro) c.607G>C (p.Ala203Pro) | |
19 | g.18069546C>T | CA404778420 | IL12RB1 | c.1189G>A (p.Ala397Thr) c.1309G>A (p.Ala437Thr) c.1342G>A (p.Ala448Thr) c.1330G>A (p.Ala444Thr) c.1321G>A (p.Ala441Thr) c.1222G>A (p.Ala408Thr) c.1210G>A (p.Ala404Thr) c.607G>A (p.Ala203Thr) | COSMIC COSMIC |
19 | g.18069547C>A | CA404778421 | IL12RB1 | c.1188G>T (p.Met396Ile) c.1308G>T (p.Met436Ile) c.1341G>T (p.Met447Ile) c.1329G>T (p.Met443Ile) c.1320G>T (p.Met440Ile) c.1221G>T (p.Met407Ile) c.1209G>T (p.Met403Ile) c.606G>T (p.Met202Ile) | |
19 | g.18069547C>G | CA404778424 | IL12RB1 | c.1188G>C (p.Met396Ile) c.1308G>C (p.Met436Ile) c.1341G>C (p.Met447Ile) c.1329G>C (p.Met443Ile) c.1320G>C (p.Met440Ile) c.1221G>C (p.Met407Ile) c.1209G>C (p.Met403Ile) c.606G>C (p.Met202Ile) | |
19 | g.18069547C>T | CA404778422 | IL12RB1 | c.1188G>A (p.Met396Ile) c.1308G>A (p.Met436Ile) c.1341G>A (p.Met447Ile) c.1329G>A (p.Met443Ile) c.1320G>A (p.Met440Ile) c.1221G>A (p.Met407Ile) c.1209G>A (p.Met403Ile) c.606G>A (p.Met202Ile) | gnomAD v4 |
19 | g.18069548A= | CA2326169819 | IL12RB1 | c.1187T= (p.Met396=) c.1307T= (p.Met436=) c.1340T= (p.Met447=) c.1328T= (p.Met443=) c.1319T= (p.Met440=) c.1220T= (p.Met407=) c.1208T= (p.Met403=) c.605T= (p.Met202=) | |
19 | g.18069548A>C | CA404778426 | IL12RB1 | c.1187T>G (p.Met396Arg) c.1307T>G (p.Met436Arg) c.1340T>G (p.Met447Arg) c.1328T>G (p.Met443Arg) c.1319T>G (p.Met440Arg) c.1220T>G (p.Met407Arg) c.1208T>G (p.Met403Arg) c.605T>G (p.Met202Arg) | |
19 | g.18069548A>G | CA404778428 | IL12RB1 | c.1187T>C (p.Met396Thr) c.1307T>C (p.Met436Thr) c.1340T>C (p.Met447Thr) c.1328T>C (p.Met443Thr) c.1319T>C (p.Met440Thr) c.1220T>C (p.Met407Thr) c.1208T>C (p.Met403Thr) c.605T>C (p.Met202Thr) | dbSNP gnomAD v4 |
19 | g.18069548A>T | CA404778429 | IL12RB1 | c.1187T>A (p.Met396Lys) c.1307T>A (p.Met436Lys) c.1340T>A (p.Met447Lys) c.1328T>A (p.Met443Lys) c.1319T>A (p.Met440Lys) c.1220T>A (p.Met407Lys) c.1208T>A (p.Met403Lys) c.605T>A (p.Met202Lys) | COSMIC COSMIC |
19 | g.18069549T>A | CA404778431 | IL12RB1 | c.1186A>T (p.Met396Leu) c.1306A>T (p.Met436Leu) c.1339A>T (p.Met447Leu) c.1327A>T (p.Met443Leu) c.1318A>T (p.Met440Leu) c.1219A>T (p.Met407Leu) c.1207A>T (p.Met403Leu) c.604A>T (p.Met202Leu) | |
19 | g.18069549T>C | CA404778433 | IL12RB1 | c.1186A>G (p.Met396Val) c.1306A>G (p.Met436Val) c.1339A>G (p.Met447Val) c.1327A>G (p.Met443Val) c.1318A>G (p.Met440Val) c.1219A>G (p.Met407Val) c.1207A>G (p.Met403Val) c.604A>G (p.Met202Val) | |
19 | g.18069549T>G | CA404778434 | IL12RB1 | c.1186A>C (p.Met396Leu) c.1306A>C (p.Met436Leu) c.1339A>C (p.Met447Leu) c.1327A>C (p.Met443Leu) c.1318A>C (p.Met440Leu) c.1219A>C (p.Met407Leu) c.1207A>C (p.Met403Leu) c.604A>C (p.Met202Leu) | |
19 | g.18069550T>A | CA506030048 | IL12RB1 | c.1185A>T (p.Gly395=) c.1305A>T (p.Gly435=) c.1338A>T (p.Gly446=) c.1326A>T (p.Gly442=) c.1317A>T (p.Gly439=) c.1218A>T (p.Gly406=) c.1206A>T (p.Gly402=) c.603A>T (p.Gly201=) | |
19 | g.18069550T>C | CA506030049 | IL12RB1 | c.1185A>G (p.Gly395=) c.1305A>G (p.Gly435=) c.1338A>G (p.Gly446=) c.1326A>G (p.Gly442=) c.1317A>G (p.Gly439=) c.1218A>G (p.Gly406=) c.1206A>G (p.Gly402=) c.603A>G (p.Gly201=) | |
19 | g.18069550T>G | CA9304937 | IL12RB1 | c.1185A>C (p.Gly395=) c.1305A>C (p.Gly435=) c.1338A>C (p.Gly446=) c.1326A>C (p.Gly442=) c.1317A>C (p.Gly439=) c.1218A>C (p.Gly406=) c.1206A>C (p.Gly402=) c.603A>C (p.Gly201=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069550T= | CA2326169820 | IL12RB1 | c.1185A= (p.Gly395=) c.1305A= (p.Gly435=) c.1338A= (p.Gly446=) c.1326A= (p.Gly442=) c.1317A= (p.Gly439=) c.1218A= (p.Gly406=) c.1206A= (p.Gly402=) c.603A= (p.Gly201=) | |
19 | g.18069551C>A | CA404778437 | IL12RB1 | c.1184G>T (p.Gly395Val) c.1304G>T (p.Gly435Val) c.1337G>T (p.Gly446Val) c.1325G>T (p.Gly442Val) c.1316G>T (p.Gly439Val) c.1217G>T (p.Gly406Val) c.1205G>T (p.Gly402Val) c.602G>T (p.Gly201Val) | gnomAD v4 |
19 | g.18069551C>G | CA404778438 | IL12RB1 | c.1184G>C (p.Gly395Ala) c.1304G>C (p.Gly435Ala) c.1337G>C (p.Gly446Ala) c.1325G>C (p.Gly442Ala) c.1316G>C (p.Gly439Ala) c.1217G>C (p.Gly406Ala) c.1205G>C (p.Gly402Ala) c.602G>C (p.Gly201Ala) | |
19 | g.18069551C>T | CA404778440 | IL12RB1 | c.1184G>A (p.Gly395Glu) c.1304G>A (p.Gly435Glu) c.1337G>A (p.Gly446Glu) c.1325G>A (p.Gly442Glu) c.1316G>A (p.Gly439Glu) c.1217G>A (p.Gly406Glu) c.1205G>A (p.Gly402Glu) c.602G>A (p.Gly201Glu) | |
19 | g.18069552C>A | CA404778445 | IL12RB1 | c.1183G>T (p.Gly395Ter) c.1303G>T (p.Gly435Ter) c.1336G>T (p.Gly446Ter) c.1324G>T (p.Gly442Ter) c.1315G>T (p.Gly439Ter) c.1216G>T (p.Gly406Ter) c.1204G>T (p.Gly402Ter) c.601G>T (p.Gly201Ter) | |
19 | g.18069552C= | CA2326169821 | IL12RB1 | c.1183G= (p.Gly395=) c.1303G= (p.Gly435=) c.1336G= (p.Gly446=) c.1324G= (p.Gly442=) c.1315G= (p.Gly439=) c.1216G= (p.Gly406=) c.1204G= (p.Gly402=) c.601G= (p.Gly201=) | |
19 | g.18069552C>G | CA404778443 | IL12RB1 | c.1183G>C (p.Gly395Arg) c.1303G>C (p.Gly435Arg) c.1336G>C (p.Gly446Arg) c.1324G>C (p.Gly442Arg) c.1315G>C (p.Gly439Arg) c.1216G>C (p.Gly406Arg) c.1204G>C (p.Gly402Arg) c.601G>C (p.Gly201Arg) | |
19 | g.18069552C>T | CA404778442 | IL12RB1 | c.1183G>A (p.Gly395Arg) c.1303G>A (p.Gly435Arg) c.1336G>A (p.Gly446Arg) c.1324G>A (p.Gly442Arg) c.1315G>A (p.Gly439Arg) c.1216G>A (p.Gly406Arg) c.1204G>A (p.Gly402Arg) c.601G>A (p.Gly201Arg) | dbSNP gnomAD v2 |
19 | g.18069553A= | CA2326169822 | IL12RB1 | c.1182T= (p.Ala394=) c.1302T= (p.Ala434=) c.1335T= (p.Ala445=) c.1323T= (p.Ala441=) c.1314T= (p.Ala438=) c.1215T= (p.Ala405=) c.1203T= (p.Ala401=) c.600T= (p.Ala200=) | |
19 | g.18069553A>C | CA506030052 | IL12RB1 | c.1182T>G (p.Ala394=) c.1302T>G (p.Ala434=) c.1335T>G (p.Ala445=) c.1323T>G (p.Ala441=) c.1314T>G (p.Ala438=) c.1215T>G (p.Ala405=) c.1203T>G (p.Ala401=) c.600T>G (p.Ala200=) | gnomAD v4 |
19 | g.18069553A>G | CA506030053 | IL12RB1 | c.1182T>C (p.Ala394=) c.1302T>C (p.Ala434=) c.1335T>C (p.Ala445=) c.1323T>C (p.Ala441=) c.1314T>C (p.Ala438=) c.1215T>C (p.Ala405=) c.1203T>C (p.Ala401=) c.600T>C (p.Ala200=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069553A>T | CA506030054 | IL12RB1 | c.1182T>A (p.Ala394=) c.1302T>A (p.Ala434=) c.1335T>A (p.Ala445=) c.1323T>A (p.Ala441=) c.1314T>A (p.Ala438=) c.1215T>A (p.Ala405=) c.1203T>A (p.Ala401=) c.600T>A (p.Ala200=) | |
19 | g.18069554G>A | CA404778446 | IL12RB1 | c.1181C>T (p.Ala394Val) c.1301C>T (p.Ala434Val) c.1334C>T (p.Ala445Val) c.1322C>T (p.Ala441Val) c.1313C>T (p.Ala438Val) c.1214C>T (p.Ala405Val) c.1202C>T (p.Ala401Val) c.599C>T (p.Ala200Val) | gnomAD v4 |
19 | g.18069554G>C | CA404778448 | IL12RB1 | c.1181C>G (p.Ala394Gly) c.1301C>G (p.Ala434Gly) c.1334C>G (p.Ala445Gly) c.1322C>G (p.Ala441Gly) c.1313C>G (p.Ala438Gly) c.1214C>G (p.Ala405Gly) c.1202C>G (p.Ala401Gly) c.599C>G (p.Ala200Gly) | |
19 | g.18069554G>T | CA404778449 | IL12RB1 | c.1181C>A (p.Ala394Asp) c.1301C>A (p.Ala434Asp) c.1334C>A (p.Ala445Asp) c.1322C>A (p.Ala441Asp) c.1313C>A (p.Ala438Asp) c.1214C>A (p.Ala405Asp) c.1202C>A (p.Ala401Asp) c.599C>A (p.Ala200Asp) | gnomAD v4 |
19 | g.18069555C>A | CA404778451 | IL12RB1 | c.1180G>T (p.Ala394Ser) c.1300G>T (p.Ala434Ser) c.1333G>T (p.Ala445Ser) c.1321G>T (p.Ala441Ser) c.1312G>T (p.Ala438Ser) c.1213G>T (p.Ala405Ser) c.1201G>T (p.Ala401Ser) c.598G>T (p.Ala200Ser) | |
19 | g.18069555C>G | CA404778453 | IL12RB1 | c.1180G>C (p.Ala394Pro) c.1300G>C (p.Ala434Pro) c.1333G>C (p.Ala445Pro) c.1321G>C (p.Ala441Pro) c.1312G>C (p.Ala438Pro) c.1213G>C (p.Ala405Pro) c.1201G>C (p.Ala401Pro) c.598G>C (p.Ala200Pro) | |
19 | g.18069555C>T | CA404778454 | IL12RB1 | c.1180G>A (p.Ala394Thr) c.1300G>A (p.Ala434Thr) c.1333G>A (p.Ala445Thr) c.1321G>A (p.Ala441Thr) c.1312G>A (p.Ala438Thr) c.1213G>A (p.Ala405Thr) c.1201G>A (p.Ala401Thr) c.598G>A (p.Ala200Thr) | gnomAD v4 |
19 | g.18069556C>A | CA506030060 | IL12RB1 | c.1179G>T (p.Pro393=) c.1299G>T (p.Pro433=) c.1332G>T (p.Pro444=) c.1320G>T (p.Pro440=) c.1311G>T (p.Pro437=) c.1212G>T (p.Pro404=) c.1200G>T (p.Pro400=) c.597G>T (p.Pro199=) | |
19 | g.18069556C= | CA2326169823 | IL12RB1 | c.1179G= (p.Pro393=) c.1299G= (p.Pro433=) c.1332G= (p.Pro444=) c.1320G= (p.Pro440=) c.1311G= (p.Pro437=) c.1212G= (p.Pro404=) c.1200G= (p.Pro400=) c.597G= (p.Pro199=) | |
19 | g.18069556C>G | CA506030058 | IL12RB1 | c.1179G>C (p.Pro393=) c.1299G>C (p.Pro433=) c.1332G>C (p.Pro444=) c.1320G>C (p.Pro440=) c.1311G>C (p.Pro437=) c.1212G>C (p.Pro404=) c.1200G>C (p.Pro400=) c.597G>C (p.Pro199=) | |
19 | g.18069556C>T | CA9304938 | IL12RB1 | c.1179G>A (p.Pro393=) c.1299G>A (p.Pro433=) c.1332G>A (p.Pro444=) c.1320G>A (p.Pro440=) c.1311G>A (p.Pro437=) c.1212G>A (p.Pro404=) c.1200G>A (p.Pro400=) c.597G>A (p.Pro199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.18069557G>A | CA9304939 | IL12RB1 | c.1178C>T (p.Pro393Leu) c.1298C>T (p.Pro433Leu) c.1331C>T (p.Pro444Leu) c.1319C>T (p.Pro440Leu) c.1310C>T (p.Pro437Leu) c.1211C>T (p.Pro404Leu) c.1199C>T (p.Pro400Leu) c.596C>T (p.Pro199Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069557G>C | CA404778456 | IL12RB1 | c.1178C>G (p.Pro393Arg) c.1298C>G (p.Pro433Arg) c.1331C>G (p.Pro444Arg) c.1319C>G (p.Pro440Arg) c.1310C>G (p.Pro437Arg) c.1211C>G (p.Pro404Arg) c.1199C>G (p.Pro400Arg) c.596C>G (p.Pro199Arg) | |
19 | g.18069557G= | CA2326169824 | IL12RB1 | c.1178C= (p.Pro393=) c.1298C= (p.Pro433=) c.1331C= (p.Pro444=) c.1319C= (p.Pro440=) c.1310C= (p.Pro437=) c.1211C= (p.Pro404=) c.1199C= (p.Pro400=) c.596C= (p.Pro199=) | |
19 | g.18069557G>T | CA404778458 | IL12RB1 | c.1178C>A (p.Pro393Gln) c.1298C>A (p.Pro433Gln) c.1331C>A (p.Pro444Gln) c.1319C>A (p.Pro440Gln) c.1310C>A (p.Pro437Gln) c.1211C>A (p.Pro404Gln) c.1199C>A (p.Pro400Gln) c.596C>A (p.Pro199Gln) | |
19 | g.18069558G>A | CA306162767 | IL12RB1 | c.1177C>T (p.Pro393Ser) c.1297C>T (p.Pro433Ser) c.1330C>T (p.Pro444Ser) c.1318C>T (p.Pro440Ser) c.1309C>T (p.Pro437Ser) c.1210C>T (p.Pro404Ser) c.1198C>T (p.Pro400Ser) c.595C>T (p.Pro199Ser) | dbSNP |
19 | g.18069558G>C | CA404778460 | IL12RB1 | c.1177C>G (p.Pro393Ala) c.1297C>G (p.Pro433Ala) c.1330C>G (p.Pro444Ala) c.1318C>G (p.Pro440Ala) c.1309C>G (p.Pro437Ala) c.1210C>G (p.Pro404Ala) c.1198C>G (p.Pro400Ala) c.595C>G (p.Pro199Ala) | dbSNP gnomAD v4 |
19 | g.18069558G= | CA2326169825 | IL12RB1 | c.1177C= (p.Pro393=) c.1297C= (p.Pro433=) c.1330C= (p.Pro444=) c.1318C= (p.Pro440=) c.1309C= (p.Pro437=) c.1210C= (p.Pro404=) c.1198C= (p.Pro400=) c.595C= (p.Pro199=) | |
19 | g.18069558G>T | CA404778462 | IL12RB1 | c.1177C>A (p.Pro393Thr) c.1297C>A (p.Pro433Thr) c.1330C>A (p.Pro444Thr) c.1318C>A (p.Pro440Thr) c.1309C>A (p.Pro437Thr) c.1210C>A (p.Pro404Thr) c.1198C>A (p.Pro400Thr) c.595C>A (p.Pro199Thr) | gnomAD v4 |
19 | g.18069559A>C | CA404778464 | IL12RB1 | c.1176T>G (p.Asp392Glu) c.1296T>G (p.Asp432Glu) c.1329T>G (p.Asp443Glu) c.1317T>G (p.Asp439Glu) c.1308T>G (p.Asp436Glu) c.1209T>G (p.Asp403Glu) c.1197T>G (p.Asp399Glu) c.594T>G (p.Asp198Glu) | |
19 | g.18069559A>G | CA506030063 | IL12RB1 | c.1176T>C (p.Asp392=) c.1296T>C (p.Asp432=) c.1329T>C (p.Asp443=) c.1317T>C (p.Asp439=) c.1308T>C (p.Asp436=) c.1209T>C (p.Asp403=) c.1197T>C (p.Asp399=) c.594T>C (p.Asp198=) | |
19 | g.18069559A>T | CA404778466 | IL12RB1 | c.1176T>A (p.Asp392Glu) c.1296T>A (p.Asp432Glu) c.1329T>A (p.Asp443Glu) c.1317T>A (p.Asp439Glu) c.1308T>A (p.Asp436Glu) c.1209T>A (p.Asp403Glu) c.1197T>A (p.Asp399Glu) c.594T>A (p.Asp198Glu) | |
19 | g.18069560T>A | CA404778467 | IL12RB1 | c.1175A>T (p.Asp392Val) c.1295A>T (p.Asp432Val) c.1328A>T (p.Asp443Val) c.1316A>T (p.Asp439Val) c.1307A>T (p.Asp436Val) c.1208A>T (p.Asp403Val) c.1196A>T (p.Asp399Val) c.593A>T (p.Asp198Val) | |
19 | g.18069560T>C | CA404778471 | IL12RB1 | c.1175A>G (p.Asp392Gly) c.1295A>G (p.Asp432Gly) c.1328A>G (p.Asp443Gly) c.1316A>G (p.Asp439Gly) c.1307A>G (p.Asp436Gly) c.1208A>G (p.Asp403Gly) c.1196A>G (p.Asp399Gly) c.593A>G (p.Asp198Gly) | |
19 | g.18069560T>G | CA404778469 | IL12RB1 | c.1175A>C (p.Asp392Ala) c.1295A>C (p.Asp432Ala) c.1328A>C (p.Asp443Ala) c.1316A>C (p.Asp439Ala) c.1307A>C (p.Asp436Ala) c.1208A>C (p.Asp403Ala) c.1196A>C (p.Asp399Ala) c.593A>C (p.Asp198Ala) | |
19 | g.18069561C>A | CA404778473 | IL12RB1 | c.1174G>T (p.Asp392Tyr) c.1294G>T (p.Asp432Tyr) c.1327G>T (p.Asp443Tyr) c.1315G>T (p.Asp439Tyr) c.1306G>T (p.Asp436Tyr) c.1207G>T (p.Asp403Tyr) c.1195G>T (p.Asp399Tyr) c.592G>T (p.Asp198Tyr) | gnomAD v4 |
19 | g.18069561C= | CA2326169826 | IL12RB1 | c.1174G= (p.Asp392=) c.1294G= (p.Asp432=) c.1327G= (p.Asp443=) c.1315G= (p.Asp439=) c.1306G= (p.Asp436=) c.1207G= (p.Asp403=) c.1195G= (p.Asp399=) c.592G= (p.Asp198=) | |
19 | g.18069561C>G | CA404778474 | IL12RB1 | c.1174G>C (p.Asp392His) c.1294G>C (p.Asp432His) c.1327G>C (p.Asp443His) c.1315G>C (p.Asp439His) c.1306G>C (p.Asp436His) c.1207G>C (p.Asp403His) c.1195G>C (p.Asp399His) c.592G>C (p.Asp198His) | gnomAD v4 |
19 | g.18069561C>T | CA306162770 | IL12RB1 | c.1174G>A (p.Asp392Asn) c.1294G>A (p.Asp432Asn) c.1327G>A (p.Asp443Asn) c.1315G>A (p.Asp439Asn) c.1306G>A (p.Asp436Asn) c.1207G>A (p.Asp403Asn) c.1195G>A (p.Asp399Asn) c.592G>A (p.Asp198Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069562C>A | CA506030065 | IL12RB1 | c.1173G>T (p.Pro391=) c.1293G>T (p.Pro431=) c.1326G>T (p.Pro442=) c.1314G>T (p.Pro438=) c.1305G>T (p.Pro435=) c.1206G>T (p.Pro402=) c.1194G>T (p.Pro398=) c.591G>T (p.Pro197=) | |
19 | g.18069562C= | CA2326169827 | IL12RB1 | c.1173G= (p.Pro391=) c.1293G= (p.Pro431=) c.1326G= (p.Pro442=) c.1314G= (p.Pro438=) c.1305G= (p.Pro435=) c.1206G= (p.Pro402=) c.1194G= (p.Pro398=) c.591G= (p.Pro197=) | |
19 | g.18069562C>G | CA506030066 | IL12RB1 | c.1173G>C (p.Pro391=) c.1293G>C (p.Pro431=) c.1326G>C (p.Pro442=) c.1314G>C (p.Pro438=) c.1305G>C (p.Pro435=) c.1206G>C (p.Pro402=) c.1194G>C (p.Pro398=) c.591G>C (p.Pro197=) | dbSNP |
19 | g.18069562C>T | CA9304940 | IL12RB1 | c.1173G>A (p.Pro391=) c.1293G>A (p.Pro431=) c.1326G>A (p.Pro442=) c.1314G>A (p.Pro438=) c.1305G>A (p.Pro435=) c.1206G>A (p.Pro402=) c.1194G>A (p.Pro398=) c.591G>A (p.Pro197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069563G>A | CA9304941 | IL12RB1 | c.1172C>T (p.Pro391Leu) c.1292C>T (p.Pro431Leu) c.1325C>T (p.Pro442Leu) c.1313C>T (p.Pro438Leu) c.1304C>T (p.Pro435Leu) c.1205C>T (p.Pro402Leu) c.1193C>T (p.Pro398Leu) c.590C>T (p.Pro197Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069563G>C | CA404778481 | IL12RB1 | c.1172C>G (p.Pro391Arg) c.1292C>G (p.Pro431Arg) c.1325C>G (p.Pro442Arg) c.1313C>G (p.Pro438Arg) c.1304C>G (p.Pro435Arg) c.1205C>G (p.Pro402Arg) c.1193C>G (p.Pro398Arg) c.590C>G (p.Pro197Arg) | dbSNP gnomAD v4 |
19 | g.18069563G= | CA2326169828 | IL12RB1 | c.1172C= (p.Pro391=) c.1292C= (p.Pro431=) c.1325C= (p.Pro442=) c.1313C= (p.Pro438=) c.1304C= (p.Pro435=) c.1205C= (p.Pro402=) c.1193C= (p.Pro398=) c.590C= (p.Pro197=) | |
19 | g.18069563G>T | CA404778483 | IL12RB1 | c.1172C>A (p.Pro391Gln) c.1292C>A (p.Pro431Gln) c.1325C>A (p.Pro442Gln) c.1313C>A (p.Pro438Gln) c.1304C>A (p.Pro435Gln) c.1205C>A (p.Pro402Gln) c.1193C>A (p.Pro398Gln) c.590C>A (p.Pro197Gln) | |
19 | g.18069565del | CA2695228475 | IL12RB1 | c.1172del (p.Pro391ArgfsTer?) c.1292del (p.Pro431ArgfsTer?) c.1325del (p.Pro442ArgfsTer?) c.1313del (p.Pro438ArgfsTer?) c.1304del (p.Pro435ArgfsTer?) c.1205del (p.Pro402ArgfsTer?) c.1193del (p.Pro398ArgfsTer?) c.590del (p.Pro197ArgfsTer?) | |
19 | g.18069564G>A | CA404778485 | IL12RB1 | c.1171C>T (p.Pro391Ser) c.1291C>T (p.Pro431Ser) c.1324C>T (p.Pro442Ser) c.1312C>T (p.Pro438Ser) c.1303C>T (p.Pro435Ser) c.1204C>T (p.Pro402Ser) c.1192C>T (p.Pro398Ser) c.589C>T (p.Pro197Ser) | gnomAD v4 |
19 | g.18069564G>C | CA404778487 | IL12RB1 | c.1171C>G (p.Pro391Ala) c.1291C>G (p.Pro431Ala) c.1324C>G (p.Pro442Ala) c.1312C>G (p.Pro438Ala) c.1303C>G (p.Pro435Ala) c.1204C>G (p.Pro402Ala) c.1192C>G (p.Pro398Ala) c.589C>G (p.Pro197Ala) | |
19 | g.18069564G>T | CA404778488 | IL12RB1 | c.1171C>A (p.Pro391Thr) c.1291C>A (p.Pro431Thr) c.1324C>A (p.Pro442Thr) c.1312C>A (p.Pro438Thr) c.1303C>A (p.Pro435Thr) c.1204C>A (p.Pro402Thr) c.1192C>A (p.Pro398Thr) c.589C>A (p.Pro197Thr) | gnomAD v4 |
19 | g.18069565G>A | CA506030068 | IL12RB1 | c.1170C>T (p.Asp390=) c.1290C>T (p.Asp430=) c.1323C>T (p.Asp441=) c.1311C>T (p.Asp437=) c.1302C>T (p.Asp434=) c.1203C>T (p.Asp401=) c.1191C>T (p.Asp397=) c.588C>T (p.Asp196=) | |
19 | g.18069565G>C | CA404778489 | IL12RB1 | c.1170C>G (p.Asp390Glu) c.1290C>G (p.Asp430Glu) c.1323C>G (p.Asp441Glu) c.1311C>G (p.Asp437Glu) c.1302C>G (p.Asp434Glu) c.1203C>G (p.Asp401Glu) c.1191C>G (p.Asp397Glu) c.588C>G (p.Asp196Glu) | |
19 | g.18069565G>T | CA404778491 | IL12RB1 | c.1170C>A (p.Asp390Glu) c.1290C>A (p.Asp430Glu) c.1323C>A (p.Asp441Glu) c.1311C>A (p.Asp437Glu) c.1302C>A (p.Asp434Glu) c.1203C>A (p.Asp401Glu) c.1191C>A (p.Asp397Glu) c.588C>A (p.Asp196Glu) | gnomAD v4 |
19 | g.18069566T>A | CA404778496 | IL12RB1 | c.1169A>T (p.Asp390Val) c.1289A>T (p.Asp430Val) c.1322A>T (p.Asp441Val) c.1310A>T (p.Asp437Val) c.1301A>T (p.Asp434Val) c.1202A>T (p.Asp401Val) c.1190A>T (p.Asp397Val) c.587A>T (p.Asp196Val) | |
19 | g.18069566T>C | CA404778493 | IL12RB1 | c.1169A>G (p.Asp390Gly) c.1289A>G (p.Asp430Gly) c.1322A>G (p.Asp441Gly) c.1310A>G (p.Asp437Gly) c.1301A>G (p.Asp434Gly) c.1202A>G (p.Asp401Gly) c.1190A>G (p.Asp397Gly) c.587A>G (p.Asp196Gly) | |
19 | g.18069566T>G | CA404778495 | IL12RB1 | c.1169A>C (p.Asp390Ala) c.1289A>C (p.Asp430Ala) c.1322A>C (p.Asp441Ala) c.1310A>C (p.Asp437Ala) c.1301A>C (p.Asp434Ala) c.1202A>C (p.Asp401Ala) c.1190A>C (p.Asp397Ala) c.587A>C (p.Asp196Ala) | |
19 | g.18069567C>A | CA404778498 | IL12RB1 | c.1168G>T (p.Asp390Tyr) c.1288G>T (p.Asp430Tyr) c.1321G>T (p.Asp441Tyr) c.1309G>T (p.Asp437Tyr) c.1300G>T (p.Asp434Tyr) c.1201G>T (p.Asp401Tyr) c.1189G>T (p.Asp397Tyr) c.586G>T (p.Asp196Tyr) | gnomAD v4 |
19 | g.18069567C>G | CA404778500 | IL12RB1 | c.1168G>C (p.Asp390His) c.1288G>C (p.Asp430His) c.1321G>C (p.Asp441His) c.1309G>C (p.Asp437His) c.1300G>C (p.Asp434His) c.1201G>C (p.Asp401His) c.1189G>C (p.Asp397His) c.586G>C (p.Asp196His) | gnomAD v4 |
19 | g.18069567C>T | CA404778501 | IL12RB1 | c.1168G>A (p.Asp390Asn) c.1288G>A (p.Asp430Asn) c.1321G>A (p.Asp441Asn) c.1309G>A (p.Asp437Asn) c.1300G>A (p.Asp434Asn) c.1201G>A (p.Asp401Asn) c.1189G>A (p.Asp397Asn) c.586G>A (p.Asp196Asn) | |
19 | g.18069568T>A | CA404778502 | IL12RB1 | c.1167A>T (p.Gln389His) c.1287A>T (p.Gln429His) c.1320A>T (p.Gln440His) c.1308A>T (p.Gln436His) c.1299A>T (p.Gln433His) c.1200A>T (p.Gln400His) c.1188A>T (p.Gln396His) c.585A>T (p.Gln195His) | gnomAD v4 |
19 | g.18069568T>C | CA506030069 | IL12RB1 | c.1167A>G (p.Gln389=) c.1287A>G (p.Gln429=) c.1320A>G (p.Gln440=) c.1308A>G (p.Gln436=) c.1299A>G (p.Gln433=) c.1200A>G (p.Gln400=) c.1188A>G (p.Gln396=) c.585A>G (p.Gln195=) | |
19 | g.18069568T>G | CA404778504 | IL12RB1 | c.1167A>C (p.Gln389His) c.1287A>C (p.Gln429His) c.1320A>C (p.Gln440His) c.1308A>C (p.Gln436His) c.1299A>C (p.Gln433His) c.1200A>C (p.Gln400His) c.1188A>C (p.Gln396His) c.585A>C (p.Gln195His) | |
19 | g.18069569T>A | CA404778505 | IL12RB1 | c.1166A>T (p.Gln389Leu) c.1286A>T (p.Gln429Leu) c.1319A>T (p.Gln440Leu) c.1307A>T (p.Gln436Leu) c.1298A>T (p.Gln433Leu) c.1199A>T (p.Gln400Leu) c.1187A>T (p.Gln396Leu) c.584A>T (p.Gln195Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18069569T>C | CA404778507 | IL12RB1 | c.1166A>G (p.Gln389Arg) c.1286A>G (p.Gln429Arg) c.1319A>G (p.Gln440Arg) c.1307A>G (p.Gln436Arg) c.1298A>G (p.Gln433Arg) c.1199A>G (p.Gln400Arg) c.1187A>G (p.Gln396Arg) c.584A>G (p.Gln195Arg) | |
19 | g.18069569T>G | CA404778509 | IL12RB1 | c.1166A>C (p.Gln389Pro) c.1286A>C (p.Gln429Pro) c.1319A>C (p.Gln440Pro) c.1307A>C (p.Gln436Pro) c.1298A>C (p.Gln433Pro) c.1199A>C (p.Gln400Pro) c.1187A>C (p.Gln396Pro) c.584A>C (p.Gln195Pro) | |
19 | g.18069569T= | CA2326169829 | IL12RB1 | c.1166A= (p.Gln389=) c.1286A= (p.Gln429=) c.1319A= (p.Gln440=) c.1307A= (p.Gln436=) c.1298A= (p.Gln433=) c.1199A= (p.Gln400=) c.1187A= (p.Gln396=) c.584A= (p.Gln195=) | |
19 | g.18069570del | CA2735823425 | IL12RB1 | c.1165del (p.Gln389LysfsTer?) c.1285del (p.Gln429LysfsTer?) c.1318del (p.Gln440LysfsTer?) c.1306del (p.Gln436LysfsTer?) c.1297del (p.Gln433LysfsTer?) c.1198del (p.Gln400LysfsTer?) c.1186del (p.Gln396LysfsTer?) c.583del (p.Gln195LysfsTer?) | dbSNP |
19 | g.18069570G>A | CA404778511 | IL12RB1 | c.1165C>T (p.Gln389Ter) c.1285C>T (p.Gln429Ter) c.1318C>T (p.Gln440Ter) c.1306C>T (p.Gln436Ter) c.1297C>T (p.Gln433Ter) c.1198C>T (p.Gln400Ter) c.1186C>T (p.Gln396Ter) c.583C>T (p.Gln195Ter) | |
19 | g.18069570G>C | CA404778512 | IL12RB1 | c.1165C>G (p.Gln389Glu) c.1285C>G (p.Gln429Glu) c.1318C>G (p.Gln440Glu) c.1306C>G (p.Gln436Glu) c.1297C>G (p.Gln433Glu) c.1198C>G (p.Gln400Glu) c.1186C>G (p.Gln396Glu) c.583C>G (p.Gln195Glu) | gnomAD v4 |
19 | g.18069570G>T | CA404778514 | IL12RB1 | c.1165C>A (p.Gln389Lys) c.1285C>A (p.Gln429Lys) c.1318C>A (p.Gln440Lys) c.1306C>A (p.Gln436Lys) c.1297C>A (p.Gln433Lys) c.1198C>A (p.Gln400Lys) c.1186C>A (p.Gln396Lys) c.583C>A (p.Gln195Lys) | gnomAD v4 |
19 | g.18069571C>A | CA506030073 | IL12RB1 | c.1164G>T (p.Pro388=) c.1284G>T (p.Pro428=) c.1317G>T (p.Pro439=) c.1305G>T (p.Pro435=) c.1296G>T (p.Pro432=) c.1197G>T (p.Pro399=) c.1185G>T (p.Pro395=) c.582G>T (p.Pro194=) | dbSNP |
19 | g.18069571C= | CA2326169830 | IL12RB1 | c.1164G= (p.Pro388=) c.1284G= (p.Pro428=) c.1317G= (p.Pro439=) c.1305G= (p.Pro435=) c.1296G= (p.Pro432=) c.1197G= (p.Pro399=) c.1185G= (p.Pro395=) c.582G= (p.Pro194=) | |
19 | g.18069571C>G | CA506030074 | IL12RB1 | c.1164G>C (p.Pro388=) c.1284G>C (p.Pro428=) c.1317G>C (p.Pro439=) c.1305G>C (p.Pro435=) c.1296G>C (p.Pro432=) c.1197G>C (p.Pro399=) c.1185G>C (p.Pro395=) c.582G>C (p.Pro194=) | |
19 | g.18069571C>T | CA9304942 | IL12RB1 | c.1164G>A (p.Pro388=) c.1284G>A (p.Pro428=) c.1317G>A (p.Pro439=) c.1305G>A (p.Pro435=) c.1296G>A (p.Pro432=) c.1197G>A (p.Pro399=) c.1185G>A (p.Pro395=) c.582G>A (p.Pro194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069572G>A | CA9304943 | IL12RB1 | c.1163C>T (p.Pro388Leu) c.1283C>T (p.Pro428Leu) c.1316C>T (p.Pro439Leu) c.1304C>T (p.Pro435Leu) c.1295C>T (p.Pro432Leu) c.1196C>T (p.Pro399Leu) c.1184C>T (p.Pro395Leu) c.581C>T (p.Pro194Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18069572G>C | CA404778518 | IL12RB1 | c.1163C>G (p.Pro388Arg) c.1283C>G (p.Pro428Arg) c.1316C>G (p.Pro439Arg) c.1304C>G (p.Pro435Arg) c.1295C>G (p.Pro432Arg) c.1196C>G (p.Pro399Arg) c.1184C>G (p.Pro395Arg) c.581C>G (p.Pro194Arg) | |
19 | g.18069572G= | CA2326169831 | IL12RB1 | c.1163C= (p.Pro388=) c.1283C= (p.Pro428=) c.1316C= (p.Pro439=) c.1304C= (p.Pro435=) c.1295C= (p.Pro432=) c.1196C= (p.Pro399=) c.1184C= (p.Pro395=) c.581C= (p.Pro194=) | |
19 | g.18069572G>T | CA404778516 | IL12RB1 | c.1163C>A (p.Pro388Gln) c.1283C>A (p.Pro428Gln) c.1316C>A (p.Pro439Gln) c.1304C>A (p.Pro435Gln) c.1295C>A (p.Pro432Gln) c.1196C>A (p.Pro399Gln) c.1184C>A (p.Pro395Gln) c.581C>A (p.Pro194Gln) | gnomAD v4 |
19 | g.18069573G>A | CA9304944 | IL12RB1 | c.1162C>T (p.Pro388Ser) c.1282C>T (p.Pro428Ser) c.1315C>T (p.Pro439Ser) c.1303C>T (p.Pro435Ser) c.1294C>T (p.Pro432Ser) c.1195C>T (p.Pro399Ser) c.1183C>T (p.Pro395Ser) c.580C>T (p.Pro194Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069573G>C | CA404778520 | IL12RB1 | c.1162C>G (p.Pro388Ala) c.1282C>G (p.Pro428Ala) c.1315C>G (p.Pro439Ala) c.1303C>G (p.Pro435Ala) c.1294C>G (p.Pro432Ala) c.1195C>G (p.Pro399Ala) c.1183C>G (p.Pro395Ala) c.580C>G (p.Pro194Ala) | gnomAD v4 |
19 | g.18069573G= | CA2326169832 | IL12RB1 | c.1162C= (p.Pro388=) c.1282C= (p.Pro428=) c.1315C= (p.Pro439=) c.1303C= (p.Pro435=) c.1294C= (p.Pro432=) c.1195C= (p.Pro399=) c.1183C= (p.Pro395=) c.580C= (p.Pro194=) | |
19 | g.18069573G>T | CA404778521 | IL12RB1 | c.1162C>A (p.Pro388Thr) c.1282C>A (p.Pro428Thr) c.1315C>A (p.Pro439Thr) c.1303C>A (p.Pro435Thr) c.1294C>A (p.Pro432Thr) c.1195C>A (p.Pro399Thr) c.1183C>A (p.Pro395Thr) c.580C>A (p.Pro194Thr) | gnomAD v4 |
19 | g.18069574C>A | CA506030078 | IL12RB1 | c.1161G>T (p.Ala387=) c.1281G>T (p.Ala427=) c.1314G>T (p.Ala438=) c.1302G>T (p.Ala434=) c.1293G>T (p.Ala431=) c.1194G>T (p.Ala398=) c.1182G>T (p.Ala394=) c.579G>T (p.Ala193=) | gnomAD v4 |
19 | g.18069574C= | CA2326169833 | IL12RB1 | c.1161G= (p.Ala387=) c.1281G= (p.Ala427=) c.1314G= (p.Ala438=) c.1302G= (p.Ala434=) c.1293G= (p.Ala431=) c.1194G= (p.Ala398=) c.1182G= (p.Ala394=) c.579G= (p.Ala193=) | |
19 | g.18069574C>G | CA506030079 | IL12RB1 | c.1161G>C (p.Ala387=) c.1281G>C (p.Ala427=) c.1314G>C (p.Ala438=) c.1302G>C (p.Ala434=) c.1293G>C (p.Ala431=) c.1194G>C (p.Ala398=) c.1182G>C (p.Ala394=) c.579G>C (p.Ala193=) | |
19 | g.18069574C>T | CA9304945 | IL12RB1 | c.1161G>A (p.Ala387=) c.1281G>A (p.Ala427=) c.1314G>A (p.Ala438=) c.1302G>A (p.Ala434=) c.1293G>A (p.Ala431=) c.1194G>A (p.Ala398=) c.1182G>A (p.Ala394=) c.579G>A (p.Ala193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069575G>A | CA9304946 | IL12RB1 | c.1160C>T (p.Ala387Val) c.1280C>T (p.Ala427Val) c.1313C>T (p.Ala438Val) c.1301C>T (p.Ala434Val) c.1292C>T (p.Ala431Val) c.1193C>T (p.Ala398Val) c.1181C>T (p.Ala394Val) c.578C>T (p.Ala193Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069575G>C | CA404778525 | IL12RB1 | c.1160C>G (p.Ala387Gly) c.1280C>G (p.Ala427Gly) c.1313C>G (p.Ala438Gly) c.1301C>G (p.Ala434Gly) c.1292C>G (p.Ala431Gly) c.1193C>G (p.Ala398Gly) c.1181C>G (p.Ala394Gly) c.578C>G (p.Ala193Gly) | |
19 | g.18069575G= | CA2326169834 | IL12RB1 | c.1160C= (p.Ala387=) c.1280C= (p.Ala427=) c.1313C= (p.Ala438=) c.1301C= (p.Ala434=) c.1292C= (p.Ala431=) c.1193C= (p.Ala398=) c.1181C= (p.Ala394=) c.578C= (p.Ala193=) | |
19 | g.18069575G>T | CA404778526 | IL12RB1 | c.1160C>A (p.Ala387Glu) c.1280C>A (p.Ala427Glu) c.1313C>A (p.Ala438Glu) c.1301C>A (p.Ala434Glu) c.1292C>A (p.Ala431Glu) c.1193C>A (p.Ala398Glu) c.1181C>A (p.Ala394Glu) c.578C>A (p.Ala193Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069576C>A | CA404778528 | IL12RB1 | c.1159G>T (p.Ala387Ser) c.1279G>T (p.Ala427Ser) c.1312G>T (p.Ala438Ser) c.1300G>T (p.Ala434Ser) c.1291G>T (p.Ala431Ser) c.1192G>T (p.Ala398Ser) c.1180G>T (p.Ala394Ser) c.577G>T (p.Ala193Ser) | |
19 | g.18069576C>G | CA404778529 | IL12RB1 | c.1159G>C (p.Ala387Pro) c.1279G>C (p.Ala427Pro) c.1312G>C (p.Ala438Pro) c.1300G>C (p.Ala434Pro) c.1291G>C (p.Ala431Pro) c.1192G>C (p.Ala398Pro) c.1180G>C (p.Ala394Pro) c.577G>C (p.Ala193Pro) | |
19 | g.18069576C>T | CA404778531 | IL12RB1 | c.1159G>A (p.Ala387Thr) c.1279G>A (p.Ala427Thr) c.1312G>A (p.Ala438Thr) c.1300G>A (p.Ala434Thr) c.1291G>A (p.Ala431Thr) c.1192G>A (p.Ala398Thr) c.1180G>A (p.Ala394Thr) c.577G>A (p.Ala193Thr) | |
19 | g.18069577A>C | CA506030082 | IL12RB1 | c.1158T>G (p.Thr386=) c.1278T>G (p.Thr426=) c.1311T>G (p.Thr437=) c.1299T>G (p.Thr433=) c.1290T>G (p.Thr430=) c.1191T>G (p.Thr397=) c.1179T>G (p.Thr393=) c.576T>G (p.Thr192=) | |
19 | g.18069577A>G | CA506030083 | IL12RB1 | c.1158T>C (p.Thr386=) c.1278T>C (p.Thr426=) c.1311T>C (p.Thr437=) c.1299T>C (p.Thr433=) c.1290T>C (p.Thr430=) c.1191T>C (p.Thr397=) c.1179T>C (p.Thr393=) c.576T>C (p.Thr192=) | |
19 | g.18069577A>T | CA506030084 | IL12RB1 | c.1158T>A (p.Thr386=) c.1278T>A (p.Thr426=) c.1311T>A (p.Thr437=) c.1299T>A (p.Thr433=) c.1290T>A (p.Thr430=) c.1191T>A (p.Thr397=) c.1179T>A (p.Thr393=) c.576T>A (p.Thr192=) | gnomAD v4 |
19 | g.18069578G>A | CA404778532 | IL12RB1 | c.1157C>T (p.Thr386Ile) c.1277C>T (p.Thr426Ile) c.1310C>T (p.Thr437Ile) c.1298C>T (p.Thr433Ile) c.1289C>T (p.Thr430Ile) c.1190C>T (p.Thr397Ile) c.1178C>T (p.Thr393Ile) c.575C>T (p.Thr192Ile) | gnomAD v4 |
19 | g.18069578G>C | CA404778534 | IL12RB1 | c.1157C>G (p.Thr386Ser) c.1277C>G (p.Thr426Ser) c.1310C>G (p.Thr437Ser) c.1298C>G (p.Thr433Ser) c.1289C>G (p.Thr430Ser) c.1190C>G (p.Thr397Ser) c.1178C>G (p.Thr393Ser) c.575C>G (p.Thr192Ser) | |
19 | g.18069578G>T | CA404778535 | IL12RB1 | c.1157C>A (p.Thr386Asn) c.1277C>A (p.Thr426Asn) c.1310C>A (p.Thr437Asn) c.1298C>A (p.Thr433Asn) c.1289C>A (p.Thr430Asn) c.1190C>A (p.Thr397Asn) c.1178C>A (p.Thr393Asn) c.575C>A (p.Thr192Asn) | gnomAD v4 |
19 | g.18069579T>A | CA404778539 | IL12RB1 | c.1156A>T (p.Thr386Ser) c.1276A>T (p.Thr426Ser) c.1309A>T (p.Thr437Ser) c.1297A>T (p.Thr433Ser) c.1288A>T (p.Thr430Ser) c.1189A>T (p.Thr397Ser) c.1177A>T (p.Thr393Ser) c.574A>T (p.Thr192Ser) | |
19 | g.18069579T>C | CA404778541 | IL12RB1 | c.1156A>G (p.Thr386Ala) c.1276A>G (p.Thr426Ala) c.1309A>G (p.Thr437Ala) c.1297A>G (p.Thr433Ala) c.1288A>G (p.Thr430Ala) c.1189A>G (p.Thr397Ala) c.1177A>G (p.Thr393Ala) c.574A>G (p.Thr192Ala) | |
19 | g.18069579T>G | CA404778537 | IL12RB1 | c.1156A>C (p.Thr386Pro) c.1276A>C (p.Thr426Pro) c.1309A>C (p.Thr437Pro) c.1297A>C (p.Thr433Pro) c.1288A>C (p.Thr430Pro) c.1189A>C (p.Thr397Pro) c.1177A>C (p.Thr393Pro) c.574A>C (p.Thr192Pro) | |
19 | g.18069580C>A | CA506030088 | IL12RB1 | c.1155G>T (p.Leu385=) c.1275G>T (p.Leu425=) c.1308G>T (p.Leu436=) c.1296G>T (p.Leu432=) c.1287G>T (p.Leu429=) c.1188G>T (p.Leu396=) c.1176G>T (p.Leu392=) c.573G>T (p.Leu191=) | |
19 | g.18069580C>G | CA506030089 | IL12RB1 | c.1155G>C (p.Leu385=) c.1275G>C (p.Leu425=) c.1308G>C (p.Leu436=) c.1296G>C (p.Leu432=) c.1287G>C (p.Leu429=) c.1188G>C (p.Leu396=) c.1176G>C (p.Leu392=) c.573G>C (p.Leu191=) | |
19 | g.18069580C>T | CA506030090 | IL12RB1 | c.1155G>A (p.Leu385=) c.1275G>A (p.Leu425=) c.1308G>A (p.Leu436=) c.1296G>A (p.Leu432=) c.1287G>A (p.Leu429=) c.1188G>A (p.Leu396=) c.1176G>A (p.Leu392=) c.573G>A (p.Leu191=) | |
19 | g.18069581A>C | CA404778542 | IL12RB1 | c.1154T>G (p.Leu385Arg) c.1274T>G (p.Leu425Arg) c.1307T>G (p.Leu436Arg) c.1295T>G (p.Leu432Arg) c.1286T>G (p.Leu429Arg) c.1187T>G (p.Leu396Arg) c.1175T>G (p.Leu392Arg) c.572T>G (p.Leu191Arg) | |
19 | g.18069581A>G | CA404778546 | IL12RB1 | c.1154T>C (p.Leu385Pro) c.1274T>C (p.Leu425Pro) c.1307T>C (p.Leu436Pro) c.1295T>C (p.Leu432Pro) c.1286T>C (p.Leu429Pro) c.1187T>C (p.Leu396Pro) c.1175T>C (p.Leu392Pro) c.572T>C (p.Leu191Pro) | |
19 | g.18069581A>T | CA404778544 | IL12RB1 | c.1154T>A (p.Leu385Gln) c.1274T>A (p.Leu425Gln) c.1307T>A (p.Leu436Gln) c.1295T>A (p.Leu432Gln) c.1286T>A (p.Leu429Gln) c.1187T>A (p.Leu396Gln) c.1175T>A (p.Leu392Gln) c.572T>A (p.Leu191Gln) | |
19 | g.18069582G>A | CA506030092 | IL12RB1 | c.1153C>T (p.Leu385=) c.1273C>T (p.Leu425=) c.1306C>T (p.Leu436=) c.1294C>T (p.Leu432=) c.1285C>T (p.Leu429=) c.1186C>T (p.Leu396=) c.1174C>T (p.Leu392=) c.571C>T (p.Leu191=) | |
19 | g.18069582G>C | CA306162784 | IL12RB1 | c.1153C>G (p.Leu385Val) c.1273C>G (p.Leu425Val) c.1306C>G (p.Leu436Val) c.1294C>G (p.Leu432Val) c.1285C>G (p.Leu429Val) c.1186C>G (p.Leu396Val) c.1174C>G (p.Leu392Val) c.571C>G (p.Leu191Val) | dbSNP gnomAD v4 |
19 | g.18069582G= | CA2326169835 | IL12RB1 | c.1153C= (p.Leu385=) c.1273C= (p.Leu425=) c.1306C= (p.Leu436=) c.1294C= (p.Leu432=) c.1285C= (p.Leu429=) c.1186C= (p.Leu396=) c.1174C= (p.Leu392=) c.571C= (p.Leu191=) | |
19 | g.18069582G>T | CA404778548 | IL12RB1 | c.1153C>A (p.Leu385Met) c.1273C>A (p.Leu425Met) c.1306C>A (p.Leu436Met) c.1294C>A (p.Leu432Met) c.1285C>A (p.Leu429Met) c.1186C>A (p.Leu396Met) c.1174C>A (p.Leu392Met) c.571C>A (p.Leu191Met) | gnomAD v4 |
19 | g.18069583G>A | CA506030093 | IL12RB1 | c.1152C>T (p.Ser384=) c.1272C>T (p.Ser424=) c.1305C>T (p.Ser435=) c.1293C>T (p.Ser431=) c.1284C>T (p.Ser428=) c.1185C>T (p.Ser395=) c.1173C>T (p.Ser391=) c.570C>T (p.Ser190=) | |
19 | g.18069583G>C | CA404778549 | IL12RB1 | c.1152C>G (p.Ser384Arg) c.1272C>G (p.Ser424Arg) c.1305C>G (p.Ser435Arg) c.1293C>G (p.Ser431Arg) c.1284C>G (p.Ser428Arg) c.1185C>G (p.Ser395Arg) c.1173C>G (p.Ser391Arg) c.570C>G (p.Ser190Arg) | gnomAD v4 |
19 | g.18069583G= | CA2326169836 | IL12RB1 | c.1152C= (p.Ser384=) c.1272C= (p.Ser424=) c.1305C= (p.Ser435=) c.1293C= (p.Ser431=) c.1284C= (p.Ser428=) c.1185C= (p.Ser395=) c.1173C= (p.Ser391=) c.570C= (p.Ser190=) | |
19 | g.18069583G>T | CA306162786 | IL12RB1 | c.1152C>A (p.Ser384Arg) c.1272C>A (p.Ser424Arg) c.1305C>A (p.Ser435Arg) c.1293C>A (p.Ser431Arg) c.1284C>A (p.Ser428Arg) c.1185C>A (p.Ser395Arg) c.1173C>A (p.Ser391Arg) c.570C>A (p.Ser190Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069584C>A | CA404778552 | IL12RB1 | c.1151G>T (p.Ser384Ile) c.1271G>T (p.Ser424Ile) c.1304G>T (p.Ser435Ile) c.1292G>T (p.Ser431Ile) c.1283G>T (p.Ser428Ile) c.1184G>T (p.Ser395Ile) c.1172G>T (p.Ser391Ile) c.569G>T (p.Ser190Ile) | |
19 | g.18069584C= | CA2326169837 | IL12RB1 | c.1151G= (p.Ser384=) c.1271G= (p.Ser424=) c.1304G= (p.Ser435=) c.1292G= (p.Ser431=) c.1283G= (p.Ser428=) c.1184G= (p.Ser395=) c.1172G= (p.Ser391=) c.569G= (p.Ser190=) | |
19 | g.18069584C>G | CA404778554 | IL12RB1 | c.1151G>C (p.Ser384Thr) c.1271G>C (p.Ser424Thr) c.1304G>C (p.Ser435Thr) c.1292G>C (p.Ser431Thr) c.1283G>C (p.Ser428Thr) c.1184G>C (p.Ser395Thr) c.1172G>C (p.Ser391Thr) c.569G>C (p.Ser190Thr) | |
19 | g.18069584C>T | CA9304947 | IL12RB1 | c.1151G>A (p.Ser384Asn) c.1271G>A (p.Ser424Asn) c.1304G>A (p.Ser435Asn) c.1292G>A (p.Ser431Asn) c.1283G>A (p.Ser428Asn) c.1184G>A (p.Ser395Asn) c.1172G>A (p.Ser391Asn) c.569G>A (p.Ser190Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18069585T>A | CA404778556 | IL12RB1 | c.1150A>T (p.Ser384Cys) c.1270A>T (p.Ser424Cys) c.1303A>T (p.Ser435Cys) c.1291A>T (p.Ser431Cys) c.1282A>T (p.Ser428Cys) c.1183A>T (p.Ser395Cys) c.1171A>T (p.Ser391Cys) c.568A>T (p.Ser190Cys) | |
19 | g.18069585T>C | CA404778558 | IL12RB1 | c.1150A>G (p.Ser384Gly) c.1270A>G (p.Ser424Gly) c.1303A>G (p.Ser435Gly) c.1291A>G (p.Ser431Gly) c.1282A>G (p.Ser428Gly) c.1183A>G (p.Ser395Gly) c.1171A>G (p.Ser391Gly) c.568A>G (p.Ser190Gly) | gnomAD v4 |
19 | g.18069585T>G | CA404778560 | IL12RB1 | c.1150A>C (p.Ser384Arg) c.1270A>C (p.Ser424Arg) c.1303A>C (p.Ser435Arg) c.1291A>C (p.Ser431Arg) c.1282A>C (p.Ser428Arg) c.1183A>C (p.Ser395Arg) c.1171A>C (p.Ser391Arg) c.568A>C (p.Ser190Arg) | |
19 | g.18069585dup | CA2583510286 | IL12RB1 | c.1150dup (p.Ser384LysfsTer?) c.1270dup (p.Ser424LysfsTer?) c.1303dup (p.Ser435LysfsTer?) c.1291dup (p.Ser431LysfsTer?) c.1282dup (p.Ser428LysfsTer?) c.1183dup (p.Ser395LysfsTer?) c.1171dup (p.Ser391LysfsTer?) c.568dup (p.Ser190LysfsTer?) | gnomAD v4 |
19 | g.18069586G>A | CA9304948 | IL12RB1 | c.1149C>T (p.Cys383=) c.1269C>T (p.Cys423=) c.1302C>T (p.Cys434=) c.1290C>T (p.Cys430=) c.1281C>T (p.Cys427=) c.1182C>T (p.Cys394=) c.1170C>T (p.Cys390=) c.567C>T (p.Cys189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069586G>C | CA404778562 | IL12RB1 | c.1149C>G (p.Cys383Trp) c.1269C>G (p.Cys423Trp) c.1302C>G (p.Cys434Trp) c.1290C>G (p.Cys430Trp) c.1281C>G (p.Cys427Trp) c.1182C>G (p.Cys394Trp) c.1170C>G (p.Cys390Trp) c.567C>G (p.Cys189Trp) | |
19 | g.18069586G= | CA2326169838 | IL12RB1 | c.1149C= (p.Cys383=) c.1269C= (p.Cys423=) c.1302C= (p.Cys434=) c.1290C= (p.Cys430=) c.1281C= (p.Cys427=) c.1182C= (p.Cys394=) c.1170C= (p.Cys390=) c.567C= (p.Cys189=) | |
19 | g.18069586G>T | CA404778564 | IL12RB1 | c.1149C>A (p.Cys383Ter) c.1269C>A (p.Cys423Ter) c.1302C>A (p.Cys434Ter) c.1290C>A (p.Cys430Ter) c.1281C>A (p.Cys427Ter) c.1182C>A (p.Cys394Ter) c.1170C>A (p.Cys390Ter) c.567C>A (p.Cys189Ter) | gnomAD v4 |
19 | g.18069587C>A | CA404778566 | IL12RB1 | c.1148G>T (p.Cys383Phe) c.1268G>T (p.Cys423Phe) c.1301G>T (p.Cys434Phe) c.1289G>T (p.Cys430Phe) c.1280G>T (p.Cys427Phe) c.1181G>T (p.Cys394Phe) c.1169G>T (p.Cys390Phe) c.566G>T (p.Cys189Phe) | |
19 | g.18069587C= | CA2326169839 | IL12RB1 | c.1148G= (p.Cys383=) c.1268G= (p.Cys423=) c.1301G= (p.Cys434=) c.1289G= (p.Cys430=) c.1280G= (p.Cys427=) c.1181G= (p.Cys394=) c.1169G= (p.Cys390=) c.566G= (p.Cys189=) | |
19 | g.18069587C>G | CA404778569 | IL12RB1 | c.1148G>C (p.Cys383Ser) c.1268G>C (p.Cys423Ser) c.1301G>C (p.Cys434Ser) c.1289G>C (p.Cys430Ser) c.1280G>C (p.Cys427Ser) c.1181G>C (p.Cys394Ser) c.1169G>C (p.Cys390Ser) c.566G>C (p.Cys189Ser) | |
19 | g.18069587C>T | CA404778567 | IL12RB1 | c.1148G>A (p.Cys383Tyr) c.1268G>A (p.Cys423Tyr) c.1301G>A (p.Cys434Tyr) c.1289G>A (p.Cys430Tyr) c.1280G>A (p.Cys427Tyr) c.1181G>A (p.Cys394Tyr) c.1169G>A (p.Cys390Tyr) c.566G>A (p.Cys189Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069588A>C | CA404778571 | IL12RB1 | c.1147T>G (p.Cys383Gly) c.1267T>G (p.Cys423Gly) c.1300T>G (p.Cys434Gly) c.1288T>G (p.Cys430Gly) c.1279T>G (p.Cys427Gly) c.1180T>G (p.Cys394Gly) c.1168T>G (p.Cys390Gly) c.565T>G (p.Cys189Gly) | |
19 | g.18069588A>G | CA404778572 | IL12RB1 | c.1147T>C (p.Cys383Arg) c.1267T>C (p.Cys423Arg) c.1300T>C (p.Cys434Arg) c.1288T>C (p.Cys430Arg) c.1279T>C (p.Cys427Arg) c.1180T>C (p.Cys394Arg) c.1168T>C (p.Cys390Arg) c.565T>C (p.Cys189Arg) | gnomAD v4 |
19 | g.18069588A>T | CA404778573 | IL12RB1 | c.1147T>A (p.Cys383Ser) c.1267T>A (p.Cys423Ser) c.1300T>A (p.Cys434Ser) c.1288T>A (p.Cys430Ser) c.1279T>A (p.Cys427Ser) c.1180T>A (p.Cys394Ser) c.1168T>A (p.Cys390Ser) c.565T>A (p.Cys189Ser) | |
19 | g.18069589G>A | CA506030101 | IL12RB1 | c.1146C>T (p.Thr382=) c.1266C>T (p.Thr422=) c.1299C>T (p.Thr433=) c.1287C>T (p.Thr429=) c.1278C>T (p.Thr426=) c.1179C>T (p.Thr393=) c.1167C>T (p.Thr389=) c.564C>T (p.Thr188=) | |
19 | g.18069589G>C | CA506030102 | IL12RB1 | c.1146C>G (p.Thr382=) c.1266C>G (p.Thr422=) c.1299C>G (p.Thr433=) c.1287C>G (p.Thr429=) c.1278C>G (p.Thr426=) c.1179C>G (p.Thr393=) c.1167C>G (p.Thr389=) c.564C>G (p.Thr188=) | |
19 | g.18069589G>T | CA506030103 | IL12RB1 | c.1146C>A (p.Thr382=) c.1266C>A (p.Thr422=) c.1299C>A (p.Thr433=) c.1287C>A (p.Thr429=) c.1278C>A (p.Thr426=) c.1179C>A (p.Thr393=) c.1167C>A (p.Thr389=) c.564C>A (p.Thr188=) | |
19 | g.18069590G>A | CA9304949 | IL12RB1 | c.1145C>T (p.Thr382Ile) c.1265C>T (p.Thr422Ile) c.1298C>T (p.Thr433Ile) c.1286C>T (p.Thr429Ile) c.1277C>T (p.Thr426Ile) c.1178C>T (p.Thr393Ile) c.1166C>T (p.Thr389Ile) c.563C>T (p.Thr188Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18069590G>C | CA404778574 | IL12RB1 | c.1145C>G (p.Thr382Ser) c.1265C>G (p.Thr422Ser) c.1298C>G (p.Thr433Ser) c.1286C>G (p.Thr429Ser) c.1277C>G (p.Thr426Ser) c.1178C>G (p.Thr393Ser) c.1166C>G (p.Thr389Ser) c.563C>G (p.Thr188Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.18069590G= | CA2326169840 | IL12RB1 | c.1145C= (p.Thr382=) c.1265C= (p.Thr422=) c.1298C= (p.Thr433=) c.1286C= (p.Thr429=) c.1277C= (p.Thr426=) c.1178C= (p.Thr393=) c.1166C= (p.Thr389=) c.563C= (p.Thr188=) | |
19 | g.18069590G>T | CA404778575 | IL12RB1 | c.1145C>A (p.Thr382Asn) c.1265C>A (p.Thr422Asn) c.1298C>A (p.Thr433Asn) c.1286C>A (p.Thr429Asn) c.1277C>A (p.Thr426Asn) c.1178C>A (p.Thr393Asn) c.1166C>A (p.Thr389Asn) c.563C>A (p.Thr188Asn) | gnomAD v4 |
19 | g.18069591T>A | CA404778577 | IL12RB1 | c.1144A>T (p.Thr382Ser) c.1264A>T (p.Thr422Ser) c.1297A>T (p.Thr433Ser) c.1285A>T (p.Thr429Ser) c.1276A>T (p.Thr426Ser) c.1177A>T (p.Thr393Ser) c.1165A>T (p.Thr389Ser) c.562A>T (p.Thr188Ser) | |
19 | g.18069591T>C | CA404778579 | IL12RB1 | c.1144A>G (p.Thr382Ala) c.1264A>G (p.Thr422Ala) c.1297A>G (p.Thr433Ala) c.1285A>G (p.Thr429Ala) c.1276A>G (p.Thr426Ala) c.1177A>G (p.Thr393Ala) c.1165A>G (p.Thr389Ala) c.562A>G (p.Thr188Ala) | |
19 | g.18069591T>G | CA404778580 | IL12RB1 | c.1144A>C (p.Thr382Pro) c.1264A>C (p.Thr422Pro) c.1297A>C (p.Thr433Pro) c.1285A>C (p.Thr429Pro) c.1276A>C (p.Thr426Pro) c.1177A>C (p.Thr393Pro) c.1165A>C (p.Thr389Pro) c.562A>C (p.Thr188Pro) | dbSNP |
19 | g.18069591T= | CA2326169841 | IL12RB1 | c.1144A= (p.Thr382=) c.1264A= (p.Thr422=) c.1297A= (p.Thr433=) c.1285A= (p.Thr429=) c.1276A= (p.Thr426=) c.1177A= (p.Thr393=) c.1165A= (p.Thr389=) c.562A= (p.Thr188=) | |
19 | g.18069592G>A | CA506030110 | IL12RB1 | c.1143C>T (p.Ala381=) c.1263C>T (p.Ala421=) c.1296C>T (p.Ala432=) c.1284C>T (p.Ala428=) c.1275C>T (p.Ala425=) c.1176C>T (p.Ala392=) c.1164C>T (p.Ala388=) c.561C>T (p.Ala187=) | gnomAD v4 |
19 | g.18069592G>C | CA506030111 | IL12RB1 | c.1143C>G (p.Ala381=) c.1263C>G (p.Ala421=) c.1296C>G (p.Ala432=) c.1284C>G (p.Ala428=) c.1275C>G (p.Ala425=) c.1176C>G (p.Ala392=) c.1164C>G (p.Ala388=) c.561C>G (p.Ala187=) | |
19 | g.18069592G>T | CA506030112 | IL12RB1 | c.1143C>A (p.Ala381=) c.1263C>A (p.Ala421=) c.1296C>A (p.Ala432=) c.1284C>A (p.Ala428=) c.1275C>A (p.Ala425=) c.1176C>A (p.Ala392=) c.1164C>A (p.Ala388=) c.561C>A (p.Ala187=) | |
19 | g.18069593G>A | CA9304950 | IL12RB1 | c.1142C>T (p.Ala381Val) c.1262C>T (p.Ala421Val) c.1295C>T (p.Ala432Val) c.1283C>T (p.Ala428Val) c.1274C>T (p.Ala425Val) c.1175C>T (p.Ala392Val) c.1163C>T (p.Ala388Val) c.560C>T (p.Ala187Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069593G>C | CA404778583 | IL12RB1 | c.1142C>G (p.Ala381Gly) c.1262C>G (p.Ala421Gly) c.1295C>G (p.Ala432Gly) c.1283C>G (p.Ala428Gly) c.1274C>G (p.Ala425Gly) c.1175C>G (p.Ala392Gly) c.1163C>G (p.Ala388Gly) c.560C>G (p.Ala187Gly) | |
19 | g.18069593G= | CA2326169842 | IL12RB1 | c.1142C= (p.Ala381=) c.1262C= (p.Ala421=) c.1295C= (p.Ala432=) c.1283C= (p.Ala428=) c.1274C= (p.Ala425=) c.1175C= (p.Ala392=) c.1163C= (p.Ala388=) c.560C= (p.Ala187=) | |
19 | g.18069593G>T | CA404778582 | IL12RB1 | c.1142C>A (p.Ala381Asp) c.1262C>A (p.Ala421Asp) c.1295C>A (p.Ala432Asp) c.1283C>A (p.Ala428Asp) c.1274C>A (p.Ala425Asp) c.1175C>A (p.Ala392Asp) c.1163C>A (p.Ala388Asp) c.560C>A (p.Ala187Asp) | dbSNP gnomAD v4 |
19 | g.18069594C>A | CA404778586 | IL12RB1 | c.1141G>T (p.Ala381Ser) c.1261G>T (p.Ala421Ser) c.1294G>T (p.Ala432Ser) c.1282G>T (p.Ala428Ser) c.1273G>T (p.Ala425Ser) c.1174G>T (p.Ala392Ser) c.1162G>T (p.Ala388Ser) c.559G>T (p.Ala187Ser) | |
19 | g.18069594C>G | CA404778587 | IL12RB1 | c.1141G>C (p.Ala381Pro) c.1261G>C (p.Ala421Pro) c.1294G>C (p.Ala432Pro) c.1282G>C (p.Ala428Pro) c.1273G>C (p.Ala425Pro) c.1174G>C (p.Ala392Pro) c.1162G>C (p.Ala388Pro) c.559G>C (p.Ala187Pro) | |
19 | g.18069594C>T | CA404778589 | IL12RB1 | c.1141G>A (p.Ala381Thr) c.1261G>A (p.Ala421Thr) c.1294G>A (p.Ala432Thr) c.1282G>A (p.Ala428Thr) c.1273G>A (p.Ala425Thr) c.1174G>A (p.Ala392Thr) c.1162G>A (p.Ala388Thr) c.559G>A (p.Ala187Thr) | |
19 | g.18069595A= | CA2326169843 | IL12RB1 | c.1140T= (p.Leu380=) c.1260T= (p.Leu420=) c.1293T= (p.Leu431=) c.1281T= (p.Leu427=) c.1272T= (p.Leu424=) c.1173T= (p.Leu391=) c.1161T= (p.Leu387=) c.558T= (p.Leu186=) | |
19 | g.18069595A>C | CA506030121 | IL12RB1 | c.1140T>G (p.Leu380=) c.1260T>G (p.Leu420=) c.1293T>G (p.Leu431=) c.1281T>G (p.Leu427=) c.1272T>G (p.Leu424=) c.1173T>G (p.Leu391=) c.1161T>G (p.Leu387=) c.558T>G (p.Leu186=) | |
19 | g.18069595A>G | CA506030123 | IL12RB1 | c.1140T>C (p.Leu380=) c.1260T>C (p.Leu420=) c.1293T>C (p.Leu431=) c.1281T>C (p.Leu427=) c.1272T>C (p.Leu424=) c.1173T>C (p.Leu391=) c.1161T>C (p.Leu387=) c.558T>C (p.Leu186=) | ClinVar dbSNP gnomAD v4 |
19 | g.18069595A>T | CA506030124 | IL12RB1 | c.1140T>A (p.Leu380=) c.1260T>A (p.Leu420=) c.1293T>A (p.Leu431=) c.1281T>A (p.Leu427=) c.1272T>A (p.Leu424=) c.1173T>A (p.Leu391=) c.1161T>A (p.Leu387=) c.558T>A (p.Leu186=) | |
19 | g.18069596A= | CA2326169844 | IL12RB1 | c.1139T= (p.Leu380=) c.1259T= (p.Leu420=) c.1292T= (p.Leu431=) c.1280T= (p.Leu427=) c.1271T= (p.Leu424=) c.1172T= (p.Leu391=) c.1160T= (p.Leu387=) c.557T= (p.Leu186=) | |
19 | g.18069596A>C | CA404778591 | IL12RB1 | c.1139T>G (p.Leu380Arg) c.1259T>G (p.Leu420Arg) c.1292T>G (p.Leu431Arg) c.1280T>G (p.Leu427Arg) c.1271T>G (p.Leu424Arg) c.1172T>G (p.Leu391Arg) c.1160T>G (p.Leu387Arg) c.557T>G (p.Leu186Arg) | |
19 | g.18069596A>G | CA404778593 | IL12RB1 | c.1139T>C (p.Leu380Pro) c.1259T>C (p.Leu420Pro) c.1292T>C (p.Leu431Pro) c.1280T>C (p.Leu427Pro) c.1271T>C (p.Leu424Pro) c.1172T>C (p.Leu391Pro) c.1160T>C (p.Leu387Pro) c.557T>C (p.Leu186Pro) | |
19 | g.18069596A>T | CA404778595 | IL12RB1 | c.1139T>A (p.Leu380His) c.1259T>A (p.Leu420His) c.1292T>A (p.Leu431His) c.1280T>A (p.Leu427His) c.1271T>A (p.Leu424His) c.1172T>A (p.Leu391His) c.1160T>A (p.Leu387His) c.557T>A (p.Leu186His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069597G>A | CA404778597 | IL12RB1 | c.1138C>T (p.Leu380Phe) c.1258C>T (p.Leu420Phe) c.1291C>T (p.Leu431Phe) c.1279C>T (p.Leu427Phe) c.1270C>T (p.Leu424Phe) c.1171C>T (p.Leu391Phe) c.1159C>T (p.Leu387Phe) c.556C>T (p.Leu186Phe) | gnomAD v4 |
19 | g.18069597G>C | CA404778599 | IL12RB1 | c.1138C>G (p.Leu380Val) c.1258C>G (p.Leu420Val) c.1291C>G (p.Leu431Val) c.1279C>G (p.Leu427Val) c.1270C>G (p.Leu424Val) c.1171C>G (p.Leu391Val) c.1159C>G (p.Leu387Val) c.556C>G (p.Leu186Val) | |
19 | g.18069597G= | CA2326169845 | IL12RB1 | c.1138C= (p.Leu380=) c.1258C= (p.Leu420=) c.1291C= (p.Leu431=) c.1279C= (p.Leu427=) c.1270C= (p.Leu424=) c.1171C= (p.Leu391=) c.1159C= (p.Leu387=) c.556C= (p.Leu186=) | |
19 | g.18069597G>T | CA9304951 | IL12RB1 | c.1138C>A (p.Leu380Ile) c.1258C>A (p.Leu420Ile) c.1291C>A (p.Leu431Ile) c.1279C>A (p.Leu427Ile) c.1270C>A (p.Leu424Ile) c.1171C>A (p.Leu391Ile) c.1159C>A (p.Leu387Ile) c.556C>A (p.Leu186Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069598G>A | CA306162807 | IL12RB1 | c.1137C>T (p.Gly379=) c.1257C>T (p.Gly419=) c.1290C>T (p.Gly430=) c.1278C>T (p.Gly426=) c.1269C>T (p.Gly423=) c.1170C>T (p.Gly390=) c.1158C>T (p.Gly386=) c.555C>T (p.Gly185=) | dbSNP |
19 | g.18069598G>C | CA9304952 | IL12RB1 | c.1137C>G (p.Gly379=) c.1257C>G (p.Gly419=) c.1290C>G (p.Gly430=) c.1278C>G (p.Gly426=) c.1269C>G (p.Gly423=) c.1170C>G (p.Gly390=) c.1158C>G (p.Gly386=) c.555C>G (p.Gly185=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069598G= | CA2326169846 | IL12RB1 | c.1137C= (p.Gly379=) c.1257C= (p.Gly419=) c.1290C= (p.Gly430=) c.1278C= (p.Gly426=) c.1269C= (p.Gly423=) c.1170C= (p.Gly390=) c.1158C= (p.Gly386=) c.555C= (p.Gly185=) | |
19 | g.18069598G>T | CA506030127 | IL12RB1 | c.1137C>A (p.Gly379=) c.1257C>A (p.Gly419=) c.1290C>A (p.Gly430=) c.1278C>A (p.Gly426=) c.1269C>A (p.Gly423=) c.1170C>A (p.Gly390=) c.1158C>A (p.Gly386=) c.555C>A (p.Gly185=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069598_18069599delinsGC | CA2326169847 | IL12RB1 | c.1136_1137delinsGC (p.Gly379=) c.1256_1257delinsGC (p.Gly419=) c.1289_1290delinsGC (p.Gly430=) c.1277_1278delinsGC (p.Gly426=) c.1268_1269delinsGC (p.Gly423=) c.1169_1170delinsGC (p.Gly390=) c.1157_1158delinsGC (p.Gly386=) c.554_555delinsGC (p.Gly185=) | |
19 | g.18069599C>A | CA404778611 | IL12RB1 | c.1136G>T (p.Gly379Val) c.1256G>T (p.Gly419Val) c.1289G>T (p.Gly430Val) c.1277G>T (p.Gly426Val) c.1268G>T (p.Gly423Val) c.1169G>T (p.Gly390Val) c.1157G>T (p.Gly386Val) c.554G>T (p.Gly185Val) | |
19 | g.18069599C= | CA2326169848 | IL12RB1 | c.1136G= (p.Gly379=) c.1256G= (p.Gly419=) c.1289G= (p.Gly430=) c.1277G= (p.Gly426=) c.1268G= (p.Gly423=) c.1169G= (p.Gly390=) c.1157G= (p.Gly386=) c.554G= (p.Gly185=) | |
19 | g.18069599C>G | CA404778607 | IL12RB1 | c.1136G>C (p.Gly379Ala) c.1256G>C (p.Gly419Ala) c.1289G>C (p.Gly430Ala) c.1277G>C (p.Gly426Ala) c.1268G>C (p.Gly423Ala) c.1169G>C (p.Gly390Ala) c.1157G>C (p.Gly386Ala) c.554G>C (p.Gly185Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069599C>T | CA404778609 | IL12RB1 | c.1136G>A (p.Gly379Asp) c.1256G>A (p.Gly419Asp) c.1289G>A (p.Gly430Asp) c.1277G>A (p.Gly426Asp) c.1268G>A (p.Gly423Asp) c.1169G>A (p.Gly390Asp) c.1157G>A (p.Gly386Asp) c.554G>A (p.Gly185Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069603dup | CA306162809 | IL12RB1 | c.1136dup (p.Leu380ProfsTer?) c.1256dup (p.Leu420ProfsTer?) c.1289dup (p.Leu431ProfsTer?) c.1277dup (p.Leu427ProfsTer?) c.1268dup (p.Leu424ProfsTer?) c.1169dup (p.Leu391ProfsTer?) c.1157dup (p.Leu387ProfsTer?) c.554dup (p.Leu186ProfsTer?) | dbSNP |
19 | g.18069603del | CA2326169849 | IL12RB1 | c.1136del (p.Gly379AlafsTer7) c.1256del (p.Gly419AlafsTer7) c.1289del (p.Gly430AlafsTer7) c.1277del (p.Gly426AlafsTer7) c.1268del (p.Gly423AlafsTer7) c.1169del (p.Gly390AlafsTer7) c.1157del (p.Gly386AlafsTer7) c.554del (p.Gly185AlafsTer7) | dbSNP gnomAD v4 |
19 | g.18069602_18069603del | CA2695228476 | IL12RB1 | c.1135_1136del (p.Gly379ProfsTer?) c.1255_1256del (p.Gly419ProfsTer?) c.1288_1289del (p.Gly430ProfsTer?) c.1276_1277del (p.Gly426ProfsTer?) c.1267_1268del (p.Gly423ProfsTer?) c.1168_1169del (p.Gly390ProfsTer?) c.1156_1157del (p.Gly386ProfsTer?) c.553_554del (p.Gly185ProfsTer?) | |
19 | g.18069600C>A | CA404778614 | IL12RB1 | c.1135G>T (p.Gly379Cys) c.1255G>T (p.Gly419Cys) c.1288G>T (p.Gly430Cys) c.1276G>T (p.Gly426Cys) c.1267G>T (p.Gly423Cys) c.1168G>T (p.Gly390Cys) c.1156G>T (p.Gly386Cys) c.553G>T (p.Gly185Cys) | |
19 | g.18069600C= | CA2326169850 | IL12RB1 | c.1135G= (p.Gly379=) c.1255G= (p.Gly419=) c.1288G= (p.Gly430=) c.1276G= (p.Gly426=) c.1267G= (p.Gly423=) c.1168G= (p.Gly390=) c.1156G= (p.Gly386=) c.553G= (p.Gly185=) | |
19 | g.18069600C>G | CA404778616 | IL12RB1 | c.1135G>C (p.Gly379Arg) c.1255G>C (p.Gly419Arg) c.1288G>C (p.Gly430Arg) c.1276G>C (p.Gly426Arg) c.1267G>C (p.Gly423Arg) c.1168G>C (p.Gly390Arg) c.1156G>C (p.Gly386Arg) c.553G>C (p.Gly185Arg) | |
19 | g.18069600C>T | CA404778619 | IL12RB1 | c.1135G>A (p.Gly379Ser) c.1255G>A (p.Gly419Ser) c.1288G>A (p.Gly430Ser) c.1276G>A (p.Gly426Ser) c.1267G>A (p.Gly423Ser) c.1168G>A (p.Gly390Ser) c.1156G>A (p.Gly386Ser) c.553G>A (p.Gly185Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069601C>A | CA506030131 | IL12RB1 | c.1134G>T (p.Gly378=) c.1254G>T (p.Gly418=) c.1287G>T (p.Gly429=) c.1275G>T (p.Gly425=) c.1266G>T (p.Gly422=) c.1167G>T (p.Gly389=) c.1155G>T (p.Gly385=) c.552G>T (p.Gly184=) | |
19 | g.18069601C= | CA2326169851 | IL12RB1 | c.1134G= (p.Gly378=) c.1254G= (p.Gly418=) c.1287G= (p.Gly429=) c.1275G= (p.Gly425=) c.1266G= (p.Gly422=) c.1167G= (p.Gly389=) c.1155G= (p.Gly385=) c.552G= (p.Gly184=) | |
19 | g.18069601C>G | CA506030133 | IL12RB1 | c.1134G>C (p.Gly378=) c.1254G>C (p.Gly418=) c.1287G>C (p.Gly429=) c.1275G>C (p.Gly425=) c.1266G>C (p.Gly422=) c.1167G>C (p.Gly389=) c.1155G>C (p.Gly385=) c.552G>C (p.Gly184=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18069601C>T | CA506030134 | IL12RB1 | c.1134G>A (p.Gly378=) c.1254G>A (p.Gly418=) c.1287G>A (p.Gly429=) c.1275G>A (p.Gly425=) c.1266G>A (p.Gly422=) c.1167G>A (p.Gly389=) c.1155G>A (p.Gly385=) c.552G>A (p.Gly184=) | |
19 | g.18069602C>A | CA404778621 | IL12RB1 | c.1133G>T (p.Gly378Val) c.1253G>T (p.Gly418Val) c.1286G>T (p.Gly429Val) c.1274G>T (p.Gly425Val) c.1265G>T (p.Gly422Val) c.1166G>T (p.Gly389Val) c.1154G>T (p.Gly385Val) c.551G>T (p.Gly184Val) | dbSNP gnomAD v4 |
19 | g.18069602C= | CA2326169852 | IL12RB1 | c.1133G= (p.Gly378=) c.1253G= (p.Gly418=) c.1286G= (p.Gly429=) c.1274G= (p.Gly425=) c.1265G= (p.Gly422=) c.1166G= (p.Gly389=) c.1154G= (p.Gly385=) c.551G= (p.Gly184=) | |
19 | g.18069602C>G | CA404778624 | IL12RB1 | c.1133G>C (p.Gly378Ala) c.1253G>C (p.Gly418Ala) c.1286G>C (p.Gly429Ala) c.1274G>C (p.Gly425Ala) c.1265G>C (p.Gly422Ala) c.1166G>C (p.Gly389Ala) c.1154G>C (p.Gly385Ala) c.551G>C (p.Gly184Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18069602C>T | CA9304953 | IL12RB1 | c.1133G>A (p.Gly378Glu) c.1253G>A (p.Gly418Glu) c.1286G>A (p.Gly429Glu) c.1274G>A (p.Gly425Glu) c.1265G>A (p.Gly422Glu) c.1166G>A (p.Gly389Glu) c.1154G>A (p.Gly385Glu) c.551G>A (p.Gly184Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.18069603C>A | CA404778629 | IL12RB1 | c.1132G>T (p.Gly378Trp) c.1252G>T (p.Gly418Trp) c.1285G>T (p.Gly429Trp) c.1273G>T (p.Gly425Trp) c.1264G>T (p.Gly422Trp) c.1165G>T (p.Gly389Trp) c.1153G>T (p.Gly385Trp) c.550G>T (p.Gly184Trp) | ClinVar dbSNP |
19 | g.18069603C= | CA2326169853 | IL12RB1 | c.1132G= (p.Gly378=) c.1252G= (p.Gly418=) c.1285G= (p.Gly429=) c.1273G= (p.Gly425=) c.1264G= (p.Gly422=) c.1165G= (p.Gly389=) c.1153G= (p.Gly385=) c.550G= (p.Gly184=) | |
19 | g.18069603C>G | CA9304954 | IL12RB1 | c.1132G>C (p.Gly378Arg) c.1252G>C (p.Gly418Arg) c.1285G>C (p.Gly429Arg) c.1273G>C (p.Gly425Arg) c.1264G>C (p.Gly422Arg) c.1165G>C (p.Gly389Arg) c.1153G>C (p.Gly385Arg) c.550G>C (p.Gly184Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069603C>T | CA9304955 | IL12RB1 | c.1132G>A (p.Gly378Arg) c.1252G>A (p.Gly418Arg) c.1285G>A (p.Gly429Arg) c.1273G>A (p.Gly425Arg) c.1264G>A (p.Gly422Arg) c.1165G>A (p.Gly389Arg) c.1153G>A (p.Gly385Arg) c.550G>A (p.Gly184Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069604G>A | CA9304956 | IL12RB1 | c.1131C>T (p.Asp377=) c.1251C>T (p.Asp417=) c.1284C>T (p.Asp428=) c.1272C>T (p.Asp424=) c.1263C>T (p.Asp421=) c.1164C>T (p.Asp388=) c.1152C>T (p.Asp384=) c.549C>T (p.Asp183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.18069604G>C | CA404778634 | IL12RB1 | c.1131C>G (p.Asp377Glu) c.1251C>G (p.Asp417Glu) c.1284C>G (p.Asp428Glu) c.1272C>G (p.Asp424Glu) c.1263C>G (p.Asp421Glu) c.1164C>G (p.Asp388Glu) c.1152C>G (p.Asp384Glu) c.549C>G (p.Asp183Glu) | |
19 | g.18069604G= | CA2326169854 | IL12RB1 | c.1131C= (p.Asp377=) c.1251C= (p.Asp417=) c.1284C= (p.Asp428=) c.1272C= (p.Asp424=) c.1263C= (p.Asp421=) c.1164C= (p.Asp388=) c.1152C= (p.Asp384=) c.549C= (p.Asp183=) | |
19 | g.18069604G>T | CA404778636 | IL12RB1 | c.1131C>A (p.Asp377Glu) c.1251C>A (p.Asp417Glu) c.1284C>A (p.Asp428Glu) c.1272C>A (p.Asp424Glu) c.1263C>A (p.Asp421Glu) c.1164C>A (p.Asp388Glu) c.1152C>A (p.Asp384Glu) c.549C>A (p.Asp183Glu) | COSMIC COSMIC |
19 | g.18069605T>A | CA404778640 | IL12RB1 | c.1130A>T (p.Asp377Val) c.1250A>T (p.Asp417Val) c.1283A>T (p.Asp428Val) c.1271A>T (p.Asp424Val) c.1262A>T (p.Asp421Val) c.1163A>T (p.Asp388Val) c.1151A>T (p.Asp384Val) c.548A>T (p.Asp183Val) | |
19 | g.18069605T>C | CA404778642 | IL12RB1 | c.1130A>G (p.Asp377Gly) c.1250A>G (p.Asp417Gly) c.1283A>G (p.Asp428Gly) c.1271A>G (p.Asp424Gly) c.1262A>G (p.Asp421Gly) c.1163A>G (p.Asp388Gly) c.1151A>G (p.Asp384Gly) c.548A>G (p.Asp183Gly) | |
19 | g.18069605T>G | CA404778639 | IL12RB1 | c.1130A>C (p.Asp377Ala) c.1250A>C (p.Asp417Ala) c.1283A>C (p.Asp428Ala) c.1271A>C (p.Asp424Ala) c.1262A>C (p.Asp421Ala) c.1163A>C (p.Asp388Ala) c.1151A>C (p.Asp384Ala) c.548A>C (p.Asp183Ala) | |
19 | g.18069606C>A | CA9304957 | IL12RB1 | c.1129G>T (p.Asp377Tyr) c.1249G>T (p.Asp417Tyr) c.1282G>T (p.Asp428Tyr) c.1270G>T (p.Asp424Tyr) c.1261G>T (p.Asp421Tyr) c.1162G>T (p.Asp388Tyr) c.1150G>T (p.Asp384Tyr) c.547G>T (p.Asp183Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18069606C= | CA2326169855 | IL12RB1 | c.1129G= (p.Asp377=) c.1249G= (p.Asp417=) c.1282G= (p.Asp428=) c.1270G= (p.Asp424=) c.1261G= (p.Asp421=) c.1162G= (p.Asp388=) c.1150G= (p.Asp384=) c.547G= (p.Asp183=) | |
19 | g.18069606C>G | CA404778650 | IL12RB1 | c.1129G>C (p.Asp377His) c.1249G>C (p.Asp417His) c.1282G>C (p.Asp428His) c.1270G>C (p.Asp424His) c.1261G>C (p.Asp421His) c.1162G>C (p.Asp388His) c.1150G>C (p.Asp384His) c.547G>C (p.Asp183His) | |
19 | g.18069606C>T | CA404778654 | IL12RB1 | c.1129G>A (p.Asp377Asn) c.1249G>A (p.Asp417Asn) c.1282G>A (p.Asp428Asn) c.1270G>A (p.Asp424Asn) c.1261G>A (p.Asp421Asn) c.1162G>A (p.Asp388Asn) c.1150G>A (p.Asp384Asn) c.547G>A (p.Asp183Asn) | |
19 | g.18069607C>A | CA404778668 | IL12RB1 | c.1128G>T (p.Gln376His) c.1248G>T (p.Gln416His) c.1281G>T (p.Gln427His) c.1269G>T (p.Gln423His) c.1260G>T (p.Gln420His) c.1161G>T (p.Gln387His) c.1149G>T (p.Gln383His) c.546G>T (p.Gln182His) | |
19 | g.18069607C= | CA2326169856 | IL12RB1 | c.1128G= (p.Gln376=) c.1248G= (p.Gln416=) c.1281G= (p.Gln427=) c.1269G= (p.Gln423=) c.1260G= (p.Gln420=) c.1161G= (p.Gln387=) c.1149G= (p.Gln383=) c.546G= (p.Gln182=) | |
19 | g.18069607C>G | CA404778672 | IL12RB1 | c.1128G>C (p.Gln376His) c.1248G>C (p.Gln416His) c.1281G>C (p.Gln427His) c.1269G>C (p.Gln423His) c.1260G>C (p.Gln420His) c.1161G>C (p.Gln387His) c.1149G>C (p.Gln383His) c.546G>C (p.Gln182His) | |
19 | g.18069607C>T | CA9304958 | IL12RB1 | c.1128G>A (p.Gln376=) c.1248G>A (p.Gln416=) c.1281G>A (p.Gln427=) c.1269G>A (p.Gln423=) c.1260G>A (p.Gln420=) c.1161G>A (p.Gln387=) c.1149G>A (p.Gln383=) c.546G>A (p.Gln182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069608T>A | CA404778674 | IL12RB1 | c.1127A>T (p.Gln376Leu) c.1247A>T (p.Gln416Leu) c.1280A>T (p.Gln427Leu) c.1268A>T (p.Gln423Leu) c.1259A>T (p.Gln420Leu) c.1160A>T (p.Gln387Leu) c.1148A>T (p.Gln383Leu) c.545A>T (p.Gln182Leu) | |
19 | g.18069608T>C | CA404778677 | IL12RB1 | c.1127A>G (p.Gln376Arg) c.1247A>G (p.Gln416Arg) c.1280A>G (p.Gln427Arg) c.1268A>G (p.Gln423Arg) c.1259A>G (p.Gln420Arg) c.1160A>G (p.Gln387Arg) c.1148A>G (p.Gln383Arg) c.545A>G (p.Gln182Arg) | |
19 | g.18069608T>G | CA404778679 | IL12RB1 | c.1127A>C (p.Gln376Pro) c.1247A>C (p.Gln416Pro) c.1280A>C (p.Gln427Pro) c.1268A>C (p.Gln423Pro) c.1259A>C (p.Gln420Pro) c.1160A>C (p.Gln387Pro) c.1148A>C (p.Gln383Pro) c.545A>C (p.Gln182Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069608T= | CA2326169857 | IL12RB1 | c.1127A= (p.Gln376=) c.1247A= (p.Gln416=) c.1280A= (p.Gln427=) c.1268A= (p.Gln423=) c.1259A= (p.Gln420=) c.1160A= (p.Gln387=) c.1148A= (p.Gln383=) c.545A= (p.Gln182=) | |
19 | g.18069609G>A | CA119242 | IL12RB1 | c.1126C>T (p.Gln376Ter) c.1246C>T (p.Gln416Ter) c.1279C>T (p.Gln427Ter) c.1267C>T (p.Gln423Ter) c.1258C>T (p.Gln420Ter) c.1159C>T (p.Gln387Ter) c.1147C>T (p.Gln383Ter) c.544C>T (p.Gln182Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18069609G>C | CA404778681 | IL12RB1 | c.1126C>G (p.Gln376Glu) c.1246C>G (p.Gln416Glu) c.1279C>G (p.Gln427Glu) c.1267C>G (p.Gln423Glu) c.1258C>G (p.Gln420Glu) c.1159C>G (p.Gln387Glu) c.1147C>G (p.Gln383Glu) c.544C>G (p.Gln182Glu) | |
19 | g.18069609G= | CA2326169858 | IL12RB1 | c.1126C= (p.Gln376=) c.1246C= (p.Gln416=) c.1279C= (p.Gln427=) c.1267C= (p.Gln423=) c.1258C= (p.Gln420=) c.1159C= (p.Gln387=) c.1147C= (p.Gln383=) c.544C= (p.Gln182=) | |
19 | g.18069609G>T | CA404778683 | IL12RB1 | c.1126C>A (p.Gln376Lys) c.1246C>A (p.Gln416Lys) c.1279C>A (p.Gln427Lys) c.1267C>A (p.Gln423Lys) c.1258C>A (p.Gln420Lys) c.1159C>A (p.Gln387Lys) c.1147C>A (p.Gln383Lys) c.544C>A (p.Gln182Lys) | gnomAD v4 |
19 | g.18069610G>A | CA506030155 | IL12RB1 | c.1125C>T (p.Gly375=) c.1245C>T (p.Gly415=) c.1278C>T (p.Gly426=) c.1266C>T (p.Gly422=) c.1257C>T (p.Gly419=) c.1158C>T (p.Gly386=) c.1146C>T (p.Gly382=) c.543C>T (p.Gly181=) | gnomAD v4 |
19 | g.18069610G>C | CA506030156 | IL12RB1 | c.1125C>G (p.Gly375=) c.1245C>G (p.Gly415=) c.1278C>G (p.Gly426=) c.1266C>G (p.Gly422=) c.1257C>G (p.Gly419=) c.1158C>G (p.Gly386=) c.1146C>G (p.Gly382=) c.543C>G (p.Gly181=) | |
19 | g.18069610G>T | CA506030157 | IL12RB1 | c.1125C>A (p.Gly375=) c.1245C>A (p.Gly415=) c.1278C>A (p.Gly426=) c.1266C>A (p.Gly422=) c.1257C>A (p.Gly419=) c.1158C>A (p.Gly386=) c.1146C>A (p.Gly382=) c.543C>A (p.Gly181=) | gnomAD v4 |
19 | g.18069611C>A | CA404778685 | IL12RB1 | c.1124G>T (p.Gly375Val) c.1244G>T (p.Gly415Val) c.1277G>T (p.Gly426Val) c.1265G>T (p.Gly422Val) c.1256G>T (p.Gly419Val) c.1157G>T (p.Gly386Val) c.1145G>T (p.Gly382Val) c.542G>T (p.Gly181Val) | |
19 | g.18069611C>G | CA404778689 | IL12RB1 | c.1124G>C (p.Gly375Ala) c.1244G>C (p.Gly415Ala) c.1277G>C (p.Gly426Ala) c.1265G>C (p.Gly422Ala) c.1256G>C (p.Gly419Ala) c.1157G>C (p.Gly386Ala) c.1145G>C (p.Gly382Ala) c.542G>C (p.Gly181Ala) | dbSNP |
19 | g.18069611C>T | CA404778692 | IL12RB1 | c.1124G>A (p.Gly375Asp) c.1244G>A (p.Gly415Asp) c.1277G>A (p.Gly426Asp) c.1265G>A (p.Gly422Asp) c.1256G>A (p.Gly419Asp) c.1157G>A (p.Gly386Asp) c.1145G>A (p.Gly382Asp) c.542G>A (p.Gly181Asp) | |
19 | g.18069612C>A | CA404778699 | IL12RB1 | c.1123G>T (p.Gly375Cys) c.1243G>T (p.Gly415Cys) c.1276G>T (p.Gly426Cys) c.1264G>T (p.Gly422Cys) c.1255G>T (p.Gly419Cys) c.1156G>T (p.Gly386Cys) c.1144G>T (p.Gly382Cys) c.541G>T (p.Gly181Cys) | |
19 | g.18069612C>G | CA404778695 | IL12RB1 | c.1123G>C (p.Gly375Arg) c.1243G>C (p.Gly415Arg) c.1276G>C (p.Gly426Arg) c.1264G>C (p.Gly422Arg) c.1255G>C (p.Gly419Arg) c.1156G>C (p.Gly386Arg) c.1144G>C (p.Gly382Arg) c.541G>C (p.Gly181Arg) | |
19 | g.18069612C>T | CA404778697 | IL12RB1 | c.1123G>A (p.Gly375Ser) c.1243G>A (p.Gly415Ser) c.1276G>A (p.Gly426Ser) c.1264G>A (p.Gly422Ser) c.1255G>A (p.Gly419Ser) c.1156G>A (p.Gly386Ser) c.1144G>A (p.Gly382Ser) c.541G>A (p.Gly181Ser) | gnomAD v4 COSMIC COSMIC |
19 | g.18069613C>A | CA506030162 | IL12RB1 | c.1122G>T (p.Val374=) c.1242G>T (p.Val414=) c.1275G>T (p.Val425=) c.1263G>T (p.Val421=) c.1254G>T (p.Val418=) c.1155G>T (p.Val385=) c.1143G>T (p.Val381=) c.540G>T (p.Val180=) | |
19 | g.18069613C= | CA2326169859 | IL12RB1 | c.1122G= (p.Val374=) c.1242G= (p.Val414=) c.1275G= (p.Val425=) c.1263G= (p.Val421=) c.1254G= (p.Val418=) c.1155G= (p.Val385=) c.1143G= (p.Val381=) c.540G= (p.Val180=) | |
19 | g.18069613C>G | CA506030163 | IL12RB1 | c.1122G>C (p.Val374=) c.1242G>C (p.Val414=) c.1275G>C (p.Val425=) c.1263G>C (p.Val421=) c.1254G>C (p.Val418=) c.1155G>C (p.Val385=) c.1143G>C (p.Val381=) c.540G>C (p.Val180=) | |
19 | g.18069613C>T | CA506030164 | IL12RB1 | c.1122G>A (p.Val374=) c.1242G>A (p.Val414=) c.1275G>A (p.Val425=) c.1263G>A (p.Val421=) c.1254G>A (p.Val418=) c.1155G>A (p.Val385=) c.1143G>A (p.Val381=) c.540G>A (p.Val180=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18069614A= | CA2326169860 | IL12RB1 | c.1121T= (p.Val374=) c.1241T= (p.Val414=) c.1274T= (p.Val425=) c.1262T= (p.Val421=) c.1253T= (p.Val418=) c.1154T= (p.Val385=) c.1142T= (p.Val381=) c.539T= (p.Val180=) | |
19 | g.18069614A>C | CA404778701 | IL12RB1 | c.1121T>G (p.Val374Gly) c.1241T>G (p.Val414Gly) c.1274T>G (p.Val425Gly) c.1262T>G (p.Val421Gly) c.1253T>G (p.Val418Gly) c.1154T>G (p.Val385Gly) c.1142T>G (p.Val381Gly) c.539T>G (p.Val180Gly) | |
19 | g.18069614A>G | CA9304959 | IL12RB1 | c.1121T>C (p.Val374Ala) c.1241T>C (p.Val414Ala) c.1274T>C (p.Val425Ala) c.1262T>C (p.Val421Ala) c.1253T>C (p.Val418Ala) c.1154T>C (p.Val385Ala) c.1142T>C (p.Val381Ala) c.539T>C (p.Val180Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069614A>T | CA404778705 | IL12RB1 | c.1121T>A (p.Val374Glu) c.1241T>A (p.Val414Glu) c.1274T>A (p.Val425Glu) c.1262T>A (p.Val421Glu) c.1253T>A (p.Val418Glu) c.1154T>A (p.Val385Glu) c.1142T>A (p.Val381Glu) c.539T>A (p.Val180Glu) | |
19 | g.18069615C>A | CA404778708 | IL12RB1 | c.1120G>T (p.Val374Leu) c.1240G>T (p.Val414Leu) c.1273G>T (p.Val425Leu) c.1261G>T (p.Val421Leu) c.1252G>T (p.Val418Leu) c.1153G>T (p.Val385Leu) c.1141G>T (p.Val381Leu) c.538G>T (p.Val180Leu) | |
19 | g.18069615C>G | CA404778711 | IL12RB1 | c.1120G>C (p.Val374Leu) c.1240G>C (p.Val414Leu) c.1273G>C (p.Val425Leu) c.1261G>C (p.Val421Leu) c.1252G>C (p.Val418Leu) c.1153G>C (p.Val385Leu) c.1141G>C (p.Val381Leu) c.538G>C (p.Val180Leu) | |
19 | g.18069615C>T | CA404778714 | IL12RB1 | c.1120G>A (p.Val374Met) c.1240G>A (p.Val414Met) c.1273G>A (p.Val425Met) c.1261G>A (p.Val421Met) c.1252G>A (p.Val418Met) c.1153G>A (p.Val385Met) c.1141G>A (p.Val381Met) c.538G>A (p.Val180Met) | gnomAD v4 |
19 | g.18069616A>C | CA506030170 | IL12RB1 | c.1119T>G (p.Pro373=) c.1239T>G (p.Pro413=) c.1272T>G (p.Pro424=) c.1260T>G (p.Pro420=) c.1251T>G (p.Pro417=) c.1152T>G (p.Pro384=) c.1140T>G (p.Pro380=) c.537T>G (p.Pro179=) | |
19 | g.18069616A>G | CA506030174 | IL12RB1 | c.1119T>C (p.Pro373=) c.1239T>C (p.Pro413=) c.1272T>C (p.Pro424=) c.1260T>C (p.Pro420=) c.1251T>C (p.Pro417=) c.1152T>C (p.Pro384=) c.1140T>C (p.Pro380=) c.537T>C (p.Pro179=) | dbSNP |
19 | g.18069616A>T | CA506030172 | IL12RB1 | c.1119T>A (p.Pro373=) c.1239T>A (p.Pro413=) c.1272T>A (p.Pro424=) c.1260T>A (p.Pro420=) c.1251T>A (p.Pro417=) c.1152T>A (p.Pro384=) c.1140T>A (p.Pro380=) c.537T>A (p.Pro179=) | |
19 | g.18069617G>A | CA404778715 | IL12RB1 | c.1118C>T (p.Pro373Leu) c.1238C>T (p.Pro413Leu) c.1271C>T (p.Pro424Leu) c.1259C>T (p.Pro420Leu) c.1250C>T (p.Pro417Leu) c.1151C>T (p.Pro384Leu) c.1139C>T (p.Pro380Leu) c.536C>T (p.Pro179Leu) | |
19 | g.18069617G>C | CA404778718 | IL12RB1 | c.1118C>G (p.Pro373Arg) c.1238C>G (p.Pro413Arg) c.1271C>G (p.Pro424Arg) c.1259C>G (p.Pro420Arg) c.1250C>G (p.Pro417Arg) c.1151C>G (p.Pro384Arg) c.1139C>G (p.Pro380Arg) c.536C>G (p.Pro179Arg) | |
19 | g.18069617G>T | CA404778721 | IL12RB1 | c.1118C>A (p.Pro373His) c.1238C>A (p.Pro413His) c.1271C>A (p.Pro424His) c.1259C>A (p.Pro420His) c.1250C>A (p.Pro417His) c.1151C>A (p.Pro384His) c.1139C>A (p.Pro380His) c.536C>A (p.Pro179His) |