| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18075705_18075722dup | CA2583511992 | IL12RB1 | c.700+27_700+44dup (n.700+27_700+44dup) c.820+27_820+44dup (n.820+27_820+44dup) c.832+27_832+44dup (n.832+27_832+44dup) c.712+27_712+44dup (n.712+27_712+44dup) c.97+27_97+44dup (n.97+27_97+44dup) | gnomAD v4 |
| 19 | g.18075709C>T | CA657278165 | IL12RB1 | c.700+40G>A (n.700+40G>A) c.820+40G>A (n.820+40G>A) c.832+40G>A (n.832+40G>A) c.712+40G>A (n.712+40G>A) c.97+40G>A (n.97+40G>A) | COSMIC |
| 19 | g.18075711_18075716dup | CA2813822824 | IL12RB1 | c.700+35_700+40dup (n.700+35_700+40dup) c.820+35_820+40dup (n.820+35_820+40dup) c.832+35_832+40dup (n.832+35_832+40dup) c.712+35_712+40dup (n.712+35_712+40dup) c.97+35_97+40dup (n.97+35_97+40dup) | |
| 19 | g.18075711A>C | CA2576772544 | IL12RB1 | c.700+38T>G (n.700+38T>G) c.820+38T>G (n.820+38T>G) c.832+38T>G (n.832+38T>G) c.712+38T>G (n.712+38T>G) c.97+38T>G (n.97+38T>G) | gnomAD v4 |
| 19 | g.18075714G>A | CA994184885 | IL12RB1 | c.700+35C>T (n.700+35C>T) c.820+35C>T (n.820+35C>T) c.832+35C>T (n.832+35C>T) c.712+35C>T (n.712+35C>T) c.97+35C>T (n.97+35C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18075714G= | CA2326172782 | IL12RB1 | c.700+35C= (n.700+35C=) c.820+35C= (n.820+35C=) c.832+35C= (n.832+35C=) c.712+35C= (n.712+35C=) c.97+35C= (n.97+35C=) | |
| 19 | g.18075714G>T | CA2583511994 | IL12RB1 | c.700+35C>A (n.700+35C>A) c.820+35C>A (n.820+35C>A) c.832+35C>A (n.832+35C>A) c.712+35C>A (n.712+35C>A) c.97+35C>A (n.97+35C>A) | gnomAD v4 |
| 19 | g.18075715C= | CA2326172784 | IL12RB1 | c.700+34G= (n.700+34G=) c.820+34G= (n.820+34G=) c.832+34G= (n.832+34G=) c.712+34G= (n.712+34G=) c.97+34G= (n.97+34G=) | |
| 19 | g.18075715C>T | CA2326172786 | IL12RB1 | c.700+34G>A (n.700+34G>A) c.820+34G>A (n.820+34G>A) c.832+34G>A (n.832+34G>A) c.712+34G>A (n.712+34G>A) c.97+34G>A (n.97+34G>A) | dbSNP gnomAD v4 |
| 19 | g.18075717del | CA2576772545 | IL12RB1 | c.700+33del (n.700+33del) c.820+33del (n.820+33del) c.832+33del (n.832+33del) c.712+33del (n.712+33del) c.97+33del (n.97+33del) | |
| 19 | g.18075718G>T | CA2583511995 | IL12RB1 | c.700+31C>A (n.700+31C>A) c.820+31C>A (n.820+31C>A) c.832+31C>A (n.832+31C>A) c.712+31C>A (n.712+31C>A) c.97+31C>A (n.97+31C>A) | gnomAD v4 |
| 19 | g.18075719C>A | CA632093952 | IL12RB1 | c.700+30G>T (n.700+30G>T) c.820+30G>T (n.820+30G>T) c.832+30G>T (n.832+30G>T) c.712+30G>T (n.712+30G>T) c.97+30G>T (n.97+30G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075719C= | CA2326172787 | IL12RB1 | c.700+30G= (n.700+30G=) c.820+30G= (n.820+30G=) c.832+30G= (n.832+30G=) c.712+30G= (n.712+30G=) c.97+30G= (n.97+30G=) | |
| 19 | g.18075719C>G | CA783887175 | IL12RB1 | c.700+30G>C (n.700+30G>C) c.820+30G>C (n.820+30G>C) c.832+30G>C (n.832+30G>C) c.712+30G>C (n.712+30G>C) c.97+30G>C (n.97+30G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18075719C>T | CA2583511996 | IL12RB1 | c.700+30G>A (n.700+30G>A) c.820+30G>A (n.820+30G>A) c.832+30G>A (n.832+30G>A) c.712+30G>A (n.712+30G>A) c.97+30G>A (n.97+30G>A) | gnomAD v4 |
| 19 | g.18075720C>T | CA2576772546 | IL12RB1 | c.700+29G>A (n.700+29G>A) c.820+29G>A (n.820+29G>A) c.832+29G>A (n.832+29G>A) c.712+29G>A (n.712+29G>A) c.97+29G>A (n.97+29G>A) | |
| 19 | g.18075721C= | CA2326172788 | IL12RB1 | c.700+28G= (n.700+28G=) c.820+28G= (n.820+28G=) c.832+28G= (n.832+28G=) c.712+28G= (n.712+28G=) c.97+28G= (n.97+28G=) | |
| 19 | g.18075721C>G | CA994184889 | IL12RB1 | c.700+28G>C (n.700+28G>C) c.820+28G>C (n.820+28G>C) c.832+28G>C (n.832+28G>C) c.712+28G>C (n.712+28G>C) c.97+28G>C (n.97+28G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18075721C>T | CA2326172789 | IL12RB1 | c.700+28G>A (n.700+28G>A) c.820+28G>A (n.820+28G>A) c.832+28G>A (n.832+28G>A) c.712+28G>A (n.712+28G>A) c.97+28G>A (n.97+28G>A) | dbSNP gnomAD v4 |
| 19 | g.18075722C= | CA2326172792 | IL12RB1 | c.700+27G= (n.700+27G=) c.820+27G= (n.820+27G=) c.832+27G= (n.832+27G=) c.712+27G= (n.712+27G=) c.97+27G= (n.97+27G=) | |
| 19 | g.18075722C>T | CA9305110 | IL12RB1 | c.700+27G>A (n.700+27G>A) c.820+27G>A (n.820+27G>A) c.832+27G>A (n.832+27G>A) c.712+27G>A (n.712+27G>A) c.97+27G>A (n.97+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18075722_18075723delinsCT | CA2326172791 | IL12RB1 | c.700+26_700+27delinsAG (n.700+26_700+27delinsAG) c.820+26_820+27delinsAG (n.820+26_820+27delinsAG) c.832+26_832+27delinsAG (n.832+26_832+27delinsAG) c.712+26_712+27delinsAG (n.712+26_712+27delinsAG) c.97+26_97+27delinsAG (n.97+26_97+27delinsAG) | |
| 19 | g.18075723del | CA9305109 | IL12RB1 | c.700+26del (n.700+26del) c.820+26del (n.820+26del) c.832+26del (n.832+26del) c.712+26del (n.712+26del) c.97+26del (n.97+26del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18075723T>A | CA2583511997 | IL12RB1 | c.700+26A>T (n.700+26A>T) c.820+26A>T (n.820+26A>T) c.832+26A>T (n.832+26A>T) c.712+26A>T (n.712+26A>T) c.97+26A>T (n.97+26A>T) | gnomAD v4 |
| 19 | g.18075723T>C | CA2583511998 | IL12RB1 | c.700+26A>G (n.700+26A>G) c.820+26A>G (n.820+26A>G) c.832+26A>G (n.832+26A>G) c.712+26A>G (n.712+26A>G) c.97+26A>G (n.97+26A>G) | gnomAD v4 |
| 19 | g.18075724G>A | CA632093954 | IL12RB1 | c.700+25C>T (n.700+25C>T) c.820+25C>T (n.820+25C>T) c.832+25C>T (n.832+25C>T) c.712+25C>T (n.712+25C>T) c.97+25C>T (n.97+25C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18075724G= | CA2326172795 | IL12RB1 | c.700+25C= (n.700+25C=) c.820+25C= (n.820+25C=) c.832+25C= (n.832+25C=) c.712+25C= (n.712+25C=) c.97+25C= (n.97+25C=) | |
| 19 | g.18075724G>T | CA2583511999 | IL12RB1 | c.700+25C>A (n.700+25C>A) c.820+25C>A (n.820+25C>A) c.832+25C>A (n.832+25C>A) c.712+25C>A (n.712+25C>A) c.97+25C>A (n.97+25C>A) | gnomAD v4 |
| 19 | g.18075725T>A | CA2576772547 | IL12RB1 | c.700+24A>T (n.700+24A>T) c.820+24A>T (n.820+24A>T) c.832+24A>T (n.832+24A>T) c.712+24A>T (n.712+24A>T) c.97+24A>T (n.97+24A>T) | |
| 19 | g.18075727C>A | CA2581373182 | IL12RB1 | c.700+22G>T (n.700+22G>T) c.820+22G>T (n.820+22G>T) c.832+22G>T (n.832+22G>T) c.712+22G>T (n.712+22G>T) c.97+22G>T (n.97+22G>T) | |
| 19 | g.18075727C= | CA2326172796 | IL12RB1 | c.700+22G= (n.700+22G=) c.820+22G= (n.820+22G=) c.832+22G= (n.832+22G=) c.712+22G= (n.712+22G=) c.97+22G= (n.97+22G=) | |
| 19 | g.18075727C>G | CA632093956 | IL12RB1 | c.700+22G>C (n.700+22G>C) c.820+22G>C (n.820+22G>C) c.832+22G>C (n.832+22G>C) c.712+22G>C (n.712+22G>C) c.97+22G>C (n.97+22G>C) | dbSNP gnomAD v2 |
| 19 | g.18075727C>T | CA9305111 | IL12RB1 | c.700+22G>A (n.700+22G>A) c.820+22G>A (n.820+22G>A) c.832+22G>A (n.832+22G>A) c.712+22G>A (n.712+22G>A) c.97+22G>A (n.97+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075728C>T | CA2583512000 | IL12RB1 | c.700+21G>A (n.700+21G>A) c.820+21G>A (n.820+21G>A) c.832+21G>A (n.832+21G>A) c.712+21G>A (n.712+21G>A) c.97+21G>A (n.97+21G>A) | gnomAD v4 |
| 19 | g.18075729T>C | CA2326172798 | IL12RB1 | c.700+20A>G (n.700+20A>G) c.820+20A>G (n.820+20A>G) c.832+20A>G (n.832+20A>G) c.712+20A>G (n.712+20A>G) c.97+20A>G (n.97+20A>G) | dbSNP |
| 19 | g.18075729T= | CA2326172799 | IL12RB1 | c.700+20A= (n.700+20A=) c.820+20A= (n.820+20A=) c.832+20A= (n.832+20A=) c.712+20A= (n.712+20A=) c.97+20A= (n.97+20A=) | |
| 19 | g.18075730G>A | CA2529270964 | IL12RB1 | c.700+19C>T (n.700+19C>T) c.820+19C>T (n.820+19C>T) c.832+19C>T (n.832+19C>T) c.712+19C>T (n.712+19C>T) c.97+19C>T (n.97+19C>T) | gnomAD v4 |
| 19 | g.18075730G>T | CA2583512001 | IL12RB1 | c.700+19C>A (n.700+19C>A) c.820+19C>A (n.820+19C>A) c.832+19C>A (n.832+19C>A) c.712+19C>A (n.712+19C>A) c.97+19C>A (n.97+19C>A) | gnomAD v4 |
| 19 | g.18075731T>C | CA2583512002 | IL12RB1 | c.700+18A>G (n.700+18A>G) c.820+18A>G (n.820+18A>G) c.832+18A>G (n.832+18A>G) c.712+18A>G (n.712+18A>G) c.97+18A>G (n.97+18A>G) | gnomAD v4 |
| 19 | g.18075732A= | CA2326172800 | IL12RB1 | c.700+17T= (n.700+17T=) c.820+17T= (n.820+17T=) c.832+17T= (n.832+17T=) c.712+17T= (n.712+17T=) c.97+17T= (n.97+17T=) | |
| 19 | g.18075732A>T | CA632093957 | IL12RB1 | c.700+17T>A (n.700+17T>A) c.820+17T>A (n.820+17T>A) c.832+17T>A (n.832+17T>A) c.712+17T>A (n.712+17T>A) c.97+17T>A (n.97+17T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075735C>T | CA2583512003 | IL12RB1 | c.700+14G>A (n.700+14G>A) c.820+14G>A (n.820+14G>A) c.832+14G>A (n.832+14G>A) c.712+14G>A (n.712+14G>A) c.97+14G>A (n.97+14G>A) | gnomAD v4 |
| 19 | g.18075736A>G | CA2576772548 | IL12RB1 | c.700+13T>C (n.700+13T>C) c.820+13T>C (n.820+13T>C) c.832+13T>C (n.832+13T>C) c.712+13T>C (n.712+13T>C) c.97+13T>C (n.97+13T>C) | gnomAD v4 |
| 19 | g.18075737G>C | CA2583512004 | IL12RB1 | c.700+12C>G (n.700+12C>G) c.820+12C>G (n.820+12C>G) c.832+12C>G (n.832+12C>G) c.712+12C>G (n.712+12C>G) c.97+12C>G (n.97+12C>G) | gnomAD v4 |
| 19 | g.18075737G>T | CA2583512005 | IL12RB1 | c.700+12C>A (n.700+12C>A) c.820+12C>A (n.820+12C>A) c.832+12C>A (n.832+12C>A) c.712+12C>A (n.712+12C>A) c.97+12C>A (n.97+12C>A) | gnomAD v4 |
| 19 | g.18075738A= | CA2326172801 | IL12RB1 | c.700+11T= (n.700+11T=) c.820+11T= (n.820+11T=) c.832+11T= (n.832+11T=) c.712+11T= (n.712+11T=) c.97+11T= (n.97+11T=) | |
| 19 | g.18075738A>G | CA2580096738 | IL12RB1 | c.700+11T>C (n.700+11T>C) c.820+11T>C (n.820+11T>C) c.832+11T>C (n.832+11T>C) c.712+11T>C (n.712+11T>C) c.97+11T>C (n.97+11T>C) | ClinVar gnomAD v4 |
| 19 | g.18075738A>T | CA2326172802 | IL12RB1 | c.700+11T>A (n.700+11T>A) c.820+11T>A (n.820+11T>A) c.832+11T>A (n.832+11T>A) c.712+11T>A (n.712+11T>A) c.97+11T>A (n.97+11T>A) | dbSNP |
| 19 | g.18075739G>T | CA2583512006 | IL12RB1 | c.700+10C>A (n.700+10C>A) c.820+10C>A (n.820+10C>A) c.832+10C>A (n.832+10C>A) c.712+10C>A (n.712+10C>A) c.97+10C>A (n.97+10C>A) | gnomAD v4 |
| 19 | g.18075741G>T | CA2583512007 | IL12RB1 | c.700+8C>A (n.700+8C>A) c.820+8C>A (n.820+8C>A) c.832+8C>A (n.832+8C>A) c.712+8C>A (n.712+8C>A) c.97+8C>A (n.97+8C>A) | gnomAD v4 |
| 19 | g.18075742A= | CA2326172804 | IL12RB1 | c.700+7T= (n.700+7T=) c.820+7T= (n.820+7T=) c.832+7T= (n.832+7T=) c.712+7T= (n.712+7T=) c.97+7T= (n.97+7T=) | |
| 19 | g.18075742A>T | CA9305112 | IL12RB1 | c.700+7T>A (n.700+7T>A) c.820+7T>A (n.820+7T>A) c.832+7T>A (n.832+7T>A) c.712+7T>A (n.712+7T>A) c.97+7T>A (n.97+7T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18075743T>G | CA2813822827 | IL12RB1 | c.700+6A>C (n.700+6A>C) c.820+6A>C (n.820+6A>C) c.832+6A>C (n.832+6A>C) c.712+6A>C (n.712+6A>C) c.97+6A>C (n.97+6A>C) | |
| 19 | g.18075746T>A | CA9305113 | IL12RB1 | c.700+3A>T (n.700+3A>T) c.820+3A>T (n.820+3A>T) c.832+3A>T (n.832+3A>T) c.712+3A>T (n.712+3A>T) c.97+3A>T (n.97+3A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075746T>C | CA2583512008 | IL12RB1 | c.700+3A>G (n.700+3A>G) c.820+3A>G (n.820+3A>G) c.832+3A>G (n.832+3A>G) c.712+3A>G (n.712+3A>G) c.97+3A>G (n.97+3A>G) | gnomAD v4 |
| 19 | g.18075746T= | CA2326172805 | IL12RB1 | c.700+3A= (n.700+3A=) c.820+3A= (n.820+3A=) c.832+3A= (n.832+3A=) c.712+3A= (n.712+3A=) c.97+3A= (n.97+3A=) | |
| 19 | g.18075747A>C | CA404781202 | IL12RB1 | c.700+2T>G (n.700+2T>G) c.820+2T>G (n.820+2T>G) c.832+2T>G (n.832+2T>G) c.712+2T>G (n.712+2T>G) c.97+2T>G (n.97+2T>G) | gnomAD v4 |
| 19 | g.18075747A>G | CA404781205 | IL12RB1 | c.700+2T>C (n.700+2T>C) c.820+2T>C (n.820+2T>C) c.832+2T>C (n.832+2T>C) c.712+2T>C (n.712+2T>C) c.97+2T>C (n.97+2T>C) | |
| 19 | g.18075747A>T | CA404781207 | IL12RB1 | c.700+2T>A (n.700+2T>A) c.820+2T>A (n.820+2T>A) c.832+2T>A (n.832+2T>A) c.712+2T>A (n.712+2T>A) c.97+2T>A (n.97+2T>A) | |
| 19 | g.18075748C>A | CA404781221 | IL12RB1 | c.700+1G>T (n.700+1G>T) c.820+1G>T (n.820+1G>T) c.832+1G>T (n.832+1G>T) c.712+1G>T (n.712+1G>T) c.97+1G>T (n.97+1G>T) | |
| 19 | g.18075748C>G | CA404781225 | IL12RB1 | c.700+1G>C (n.700+1G>C) c.820+1G>C (n.820+1G>C) c.832+1G>C (n.832+1G>C) c.712+1G>C (n.712+1G>C) c.97+1G>C (n.97+1G>C) | |
| 19 | g.18075748C>T | CA404781210 | IL12RB1 | c.700+1G>A (n.700+1G>A) c.820+1G>A (n.820+1G>A) c.832+1G>A (n.832+1G>A) c.712+1G>A (n.712+1G>A) c.97+1G>A (n.97+1G>A) | |
| 19 | g.18075749del | CA2583512009 | IL12RB1 | c.700+1del c.820+1del c.832+1del c.712+1del c.97+1del | gnomAD v4 |
| 19 | g.18075749C>A | CA404781233 | IL12RB1 | c.700G>T (p.Glu234Ter) c.820G>T (p.Glu274Ter) c.832G>T (p.Val278Phe) c.820G>T (p.Val274Phe) c.832G>T (p.Glu278Ter) c.712G>T (p.Val238Phe) c.700G>T (p.Val234Phe) c.97G>T (p.Val33Phe) | |
| 19 | g.18075749C= | CA2326172808 | IL12RB1 | c.700G= (p.Glu234=) c.820G= (p.Glu274=) c.832G= (p.Val278=) c.820G= (p.Val274=) c.832G= (p.Glu278=) c.712G= (p.Val238=) c.700G= (p.Val234=) c.97G= (p.Val33=) | |
| 19 | g.18075749C>G | CA404781229 | IL12RB1 | c.700G>C (p.Glu234Gln) c.820G>C (p.Glu274Gln) c.832G>C (p.Val278Leu) c.820G>C (p.Val274Leu) c.832G>C (p.Glu278Gln) c.712G>C (p.Val238Leu) c.700G>C (p.Val234Leu) c.97G>C (p.Val33Leu) | |
| 19 | g.18075749C>T | CA404781231 | IL12RB1 | c.700G>A (p.Glu234Lys) c.820G>A (p.Glu274Lys) c.832G>A (p.Val278Ile) c.820G>A (p.Val274Ile) c.832G>A (p.Glu278Lys) c.712G>A (p.Val238Ile) c.700G>A (p.Val234Ile) c.97G>A (p.Val33Ile) | dbSNP gnomAD v4 |
| 19 | g.18075750del | CA2573156153 | IL12RB1 | c.699del (p.Glu234LysfsTer8) c.819del (p.Glu274LysfsTer8) c.831del (p.Val278LeufsTer5) c.819del (p.Val274LeufsTer5) c.831del (p.Glu278LysfsTer8) c.711del (p.Val238LeufsTer5) c.699del (p.Val234LeufsTer5) c.96del (p.Val33LeufsTer5) | ClinVar dbSNP gnomAD v4 |
| 19 | g.18075750A= | CA2326172810 | IL12RB1 | c.699T= (p.Pro233=) c.819T= (p.Pro273=) c.831T= (p.Pro277=) c.711T= (p.Pro237=) c.96T= (p.Pro32=) | |
| 19 | g.18075750A>C | CA506032174 | IL12RB1 | c.699T>G (p.Pro233=) c.819T>G (p.Pro273=) c.831T>G (p.Pro277=) c.711T>G (p.Pro237=) c.96T>G (p.Pro32=) | |
| 19 | g.18075750A>G | CA9305114 | IL12RB1 | c.699T>C (p.Pro233=) c.819T>C (p.Pro273=) c.831T>C (p.Pro277=) c.711T>C (p.Pro237=) c.96T>C (p.Pro32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075750A>T | CA506032178 | IL12RB1 | c.699T>A (p.Pro233=) c.819T>A (p.Pro273=) c.831T>A (p.Pro277=) c.711T>A (p.Pro237=) c.96T>A (p.Pro32=) | dbSNP |
| 19 | g.18075751G>A | CA404781238 | IL12RB1 | c.698C>T (p.Pro233Leu) c.818C>T (p.Pro273Leu) c.830C>T (p.Pro277Leu) c.710C>T (p.Pro237Leu) c.95C>T (p.Pro32Leu) | COSMIC COSMIC COSMIC |
| 19 | g.18075751G>C | CA404781240 | IL12RB1 | c.698C>G (p.Pro233Arg) c.818C>G (p.Pro273Arg) c.830C>G (p.Pro277Arg) c.710C>G (p.Pro237Arg) c.95C>G (p.Pro32Arg) | |
| 19 | g.18075751G>T | CA404781244 | IL12RB1 | c.698C>A (p.Pro233His) c.818C>A (p.Pro273His) c.830C>A (p.Pro277His) c.710C>A (p.Pro237His) c.95C>A (p.Pro32His) | gnomAD v4 |
| 19 | g.18075755dup | CA2583512011 | IL12RB1 | c.698dup (p.Glu234Ter) c.818dup (p.Glu274Ter) c.830dup (p.Val278CysfsTer?) c.818dup (p.Val274CysfsTer?) c.830dup (p.Glu278Ter) c.710dup (p.Val238CysfsTer?) c.698dup (p.Val234CysfsTer?) c.95dup (p.Val33CysfsTer?) | gnomAD v4 |
| 19 | g.18075755del | CA2583512010 | IL12RB1 | c.698del (p.Pro233LeufsTer9) c.818del (p.Pro273LeufsTer9) c.830del (p.Pro277LeufsTer6) c.818del (p.Pro273LeufsTer6) c.830del (p.Pro277LeufsTer9) c.710del (p.Pro237LeufsTer6) c.698del (p.Pro233LeufsTer6) c.95del (p.Pro32LeufsTer6) | gnomAD v4 |
| 19 | g.18075752G>A | CA404781246 | IL12RB1 | c.697C>T (p.Pro233Ser) c.817C>T (p.Pro273Ser) c.829C>T (p.Pro277Ser) c.709C>T (p.Pro237Ser) c.94C>T (p.Pro32Ser) | gnomAD v4 |
| 19 | g.18075752G>C | CA404781248 | IL12RB1 | c.697C>G (p.Pro233Ala) c.817C>G (p.Pro273Ala) c.829C>G (p.Pro277Ala) c.709C>G (p.Pro237Ala) c.94C>G (p.Pro32Ala) | |
| 19 | g.18075752G>T | CA404781251 | IL12RB1 | c.697C>A (p.Pro233Thr) c.817C>A (p.Pro273Thr) c.829C>A (p.Pro277Thr) c.709C>A (p.Pro237Thr) c.94C>A (p.Pro32Thr) | gnomAD v4 |
| 19 | g.18075753G>A | CA506032190 | IL12RB1 | c.696C>T (p.Pro232=) c.816C>T (p.Pro272=) c.828C>T (p.Pro276=) c.708C>T (p.Pro236=) c.93C>T (p.Pro31=) | |
| 19 | g.18075753G>C | CA506032192 | IL12RB1 | c.696C>G (p.Pro232=) c.816C>G (p.Pro272=) c.828C>G (p.Pro276=) c.708C>G (p.Pro236=) c.93C>G (p.Pro31=) | |
| 19 | g.18075753G>T | CA506032194 | IL12RB1 | c.696C>A (p.Pro232=) c.816C>A (p.Pro272=) c.828C>A (p.Pro276=) c.708C>A (p.Pro236=) c.93C>A (p.Pro31=) | gnomAD v4 |
| 19 | g.18075754G>A | CA9305115 | IL12RB1 | c.695C>T (p.Pro232Leu) c.815C>T (p.Pro272Leu) c.827C>T (p.Pro276Leu) c.707C>T (p.Pro236Leu) c.92C>T (p.Pro31Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075754G>C | CA404781255 | IL12RB1 | c.695C>G (p.Pro232Arg) c.815C>G (p.Pro272Arg) c.827C>G (p.Pro276Arg) c.707C>G (p.Pro236Arg) c.92C>G (p.Pro31Arg) | dbSNP |
| 19 | g.18075754G= | CA2326172818 | IL12RB1 | c.695C= (p.Pro232=) c.815C= (p.Pro272=) c.827C= (p.Pro276=) c.707C= (p.Pro236=) c.92C= (p.Pro31=) | |
| 19 | g.18075754G>T | CA404781257 | IL12RB1 | c.695C>A (p.Pro232His) c.815C>A (p.Pro272His) c.827C>A (p.Pro276His) c.707C>A (p.Pro236His) c.92C>A (p.Pro31His) | |
| 19 | g.18075755G>A | CA9305116 | IL12RB1 | c.694C>T (p.Pro232Ser) c.814C>T (p.Pro272Ser) c.826C>T (p.Pro276Ser) c.706C>T (p.Pro236Ser) c.91C>T (p.Pro31Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075755G>C | CA404781260 | IL12RB1 | c.694C>G (p.Pro232Ala) c.814C>G (p.Pro272Ala) c.826C>G (p.Pro276Ala) c.706C>G (p.Pro236Ala) c.91C>G (p.Pro31Ala) | |
| 19 | g.18075755G= | CA2326172821 | IL12RB1 | c.694C= (p.Pro232=) c.814C= (p.Pro272=) c.826C= (p.Pro276=) c.706C= (p.Pro236=) c.91C= (p.Pro31=) | |
| 19 | g.18075755G>T | CA404781262 | IL12RB1 | c.694C>A (p.Pro232Thr) c.814C>A (p.Pro272Thr) c.826C>A (p.Pro276Thr) c.706C>A (p.Pro236Thr) c.91C>A (p.Pro31Thr) | gnomAD v4 |
| 19 | g.18075756A>C | CA506032207 | IL12RB1 | c.693T>G (p.Val231=) c.813T>G (p.Val271=) c.825T>G (p.Val275=) c.705T>G (p.Val235=) c.90T>G (p.Val30=) | |
| 19 | g.18075756A>G | CA506032205 | IL12RB1 | c.693T>C (p.Val231=) c.813T>C (p.Val271=) c.825T>C (p.Val275=) c.705T>C (p.Val235=) c.90T>C (p.Val30=) | |
| 19 | g.18075756A>T | CA506032204 | IL12RB1 | c.693T>A (p.Val231=) c.813T>A (p.Val271=) c.825T>A (p.Val275=) c.705T>A (p.Val235=) c.90T>A (p.Val30=) | |
| 19 | g.18075757A>C | CA404781267 | IL12RB1 | c.692T>G (p.Val231Gly) c.812T>G (p.Val271Gly) c.824T>G (p.Val275Gly) c.704T>G (p.Val235Gly) c.89T>G (p.Val30Gly) | |
| 19 | g.18075757A>G | CA404781268 | IL12RB1 | c.692T>C (p.Val231Ala) c.812T>C (p.Val271Ala) c.824T>C (p.Val275Ala) c.704T>C (p.Val235Ala) c.89T>C (p.Val30Ala) | gnomAD v4 |
| 19 | g.18075757A>T | CA404781271 | IL12RB1 | c.692T>A (p.Val231Asp) c.812T>A (p.Val271Asp) c.824T>A (p.Val275Asp) c.704T>A (p.Val235Asp) c.89T>A (p.Val30Asp) | gnomAD v4 |
| 19 | g.18075758C>A | CA404781273 | IL12RB1 | c.691G>T (p.Val231Phe) c.811G>T (p.Val271Phe) c.823G>T (p.Val275Phe) c.703G>T (p.Val235Phe) c.88G>T (p.Val30Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18075758C= | CA2326172826 | IL12RB1 | c.691G= (p.Val231=) c.811G= (p.Val271=) c.823G= (p.Val275=) c.703G= (p.Val235=) c.88G= (p.Val30=) | |
| 19 | g.18075758C>G | CA404781277 | IL12RB1 | c.691G>C (p.Val231Leu) c.811G>C (p.Val271Leu) c.823G>C (p.Val275Leu) c.703G>C (p.Val235Leu) c.88G>C (p.Val30Leu) | |
| 19 | g.18075758C>T | CA306164079 | IL12RB1 | c.691G>A (p.Val231Ile) c.811G>A (p.Val271Ile) c.823G>A (p.Val275Ile) c.703G>A (p.Val235Ile) c.88G>A (p.Val30Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18075759G>A | CA9305117 | IL12RB1 | c.690C>T (p.Cys230=) c.810C>T (p.Cys270=) c.822C>T (p.Cys274=) c.702C>T (p.Cys234=) c.87C>T (p.Cys29=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.18075759G>C | CA404781281 | IL12RB1 | c.690C>G (p.Cys230Trp) c.810C>G (p.Cys270Trp) c.822C>G (p.Cys274Trp) c.702C>G (p.Cys234Trp) c.87C>G (p.Cys29Trp) | |
| 19 | g.18075759G= | CA2326172830 | IL12RB1 | c.690C= (p.Cys230=) c.810C= (p.Cys270=) c.822C= (p.Cys274=) c.702C= (p.Cys234=) c.87C= (p.Cys29=) | |
| 19 | g.18075759G>T | CA404781284 | IL12RB1 | c.690C>A (p.Cys230Ter) c.810C>A (p.Cys270Ter) c.822C>A (p.Cys274Ter) c.702C>A (p.Cys234Ter) c.87C>A (p.Cys29Ter) | gnomAD v4 |
| 19 | g.18075760C>A | CA404781287 | IL12RB1 | c.689G>T (p.Cys230Phe) c.809G>T (p.Cys270Phe) c.821G>T (p.Cys274Phe) c.701G>T (p.Cys234Phe) c.86G>T (p.Cys29Phe) | |
| 19 | g.18075760C>G | CA404781290 | IL12RB1 | c.689G>C (p.Cys230Ser) c.809G>C (p.Cys270Ser) c.821G>C (p.Cys274Ser) c.701G>C (p.Cys234Ser) c.86G>C (p.Cys29Ser) | |
| 19 | g.18075760C>T | CA404781292 | IL12RB1 | c.689G>A (p.Cys230Tyr) c.809G>A (p.Cys270Tyr) c.821G>A (p.Cys274Tyr) c.701G>A (p.Cys234Tyr) c.86G>A (p.Cys29Tyr) | |
| 19 | g.18075761A>C | CA404781298 | IL12RB1 | c.688T>G (p.Cys230Gly) c.808T>G (p.Cys270Gly) c.820T>G (p.Cys274Gly) c.700T>G (p.Cys234Gly) c.85T>G (p.Cys29Gly) | gnomAD v4 |
| 19 | g.18075761A>G | CA404781301 | IL12RB1 | c.688T>C (p.Cys230Arg) c.808T>C (p.Cys270Arg) c.820T>C (p.Cys274Arg) c.700T>C (p.Cys234Arg) c.85T>C (p.Cys29Arg) | |
| 19 | g.18075761A>T | CA404781294 | IL12RB1 | c.688T>A (p.Cys230Ser) c.808T>A (p.Cys270Ser) c.820T>A (p.Cys274Ser) c.700T>A (p.Cys234Ser) c.85T>A (p.Cys29Ser) | gnomAD v4 |
| 19 | g.18075762C>A | CA306164081 | IL12RB1 | c.687G>T (p.Val229=) c.807G>T (p.Val269=) c.819G>T (p.Val273=) c.699G>T (p.Val233=) c.84G>T (p.Val28=) | dbSNP |
| 19 | g.18075762C= | CA2326172834 | IL12RB1 | c.687G= (p.Val229=) c.807G= (p.Val269=) c.819G= (p.Val273=) c.699G= (p.Val233=) c.84G= (p.Val28=) | |
| 19 | g.18075762C>G | CA506032232 | IL12RB1 | c.687G>C (p.Val229=) c.807G>C (p.Val269=) c.819G>C (p.Val273=) c.699G>C (p.Val233=) c.84G>C (p.Val28=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18075762C>T | CA506032234 | IL12RB1 | c.687G>A (p.Val229=) c.807G>A (p.Val269=) c.819G>A (p.Val273=) c.699G>A (p.Val233=) c.84G>A (p.Val28=) | dbSNP gnomAD v4 |
| 19 | g.18075763A>C | CA404781305 | IL12RB1 | c.686T>G (p.Val229Gly) c.806T>G (p.Val269Gly) c.818T>G (p.Val273Gly) c.698T>G (p.Val233Gly) c.83T>G (p.Val28Gly) | |
| 19 | g.18075763A>G | CA404781308 | IL12RB1 | c.686T>C (p.Val229Ala) c.806T>C (p.Val269Ala) c.818T>C (p.Val273Ala) c.698T>C (p.Val233Ala) c.83T>C (p.Val28Ala) | |
| 19 | g.18075763A>T | CA404781309 | IL12RB1 | c.686T>A (p.Val229Glu) c.806T>A (p.Val269Glu) c.818T>A (p.Val273Glu) c.698T>A (p.Val233Glu) c.83T>A (p.Val28Glu) | |
| 19 | g.18075764C>A | CA404781312 | IL12RB1 | c.685G>T (p.Val229Leu) c.805G>T (p.Val269Leu) c.817G>T (p.Val273Leu) c.697G>T (p.Val233Leu) c.82G>T (p.Val28Leu) | |
| 19 | g.18075764C= | CA2326172840 | IL12RB1 | c.685G= (p.Val229=) c.805G= (p.Val269=) c.817G= (p.Val273=) c.697G= (p.Val233=) c.82G= (p.Val28=) | |
| 19 | g.18075764C>G | CA404781314 | IL12RB1 | c.685G>C (p.Val229Leu) c.805G>C (p.Val269Leu) c.817G>C (p.Val273Leu) c.697G>C (p.Val233Leu) c.82G>C (p.Val28Leu) | |
| 19 | g.18075764C>T | CA9305118 | IL12RB1 | c.685G>A (p.Val229Met) c.805G>A (p.Val269Met) c.817G>A (p.Val273Met) c.697G>A (p.Val233Met) c.82G>A (p.Val28Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.18075764_18075765insA | CA2695228485 | IL12RB1 | c.684_685insT (p.Val229CysfsTer6) c.804_805insT (p.Val269CysfsTer6) c.816_817insT (p.Val273CysfsTer?) c.804_805insT (p.Val269CysfsTer?) c.816_817insT (p.Val273CysfsTer6) c.696_697insT (p.Val233CysfsTer?) c.684_685insT (p.Val229CysfsTer?) c.81_82insT (p.Val28CysfsTer?) | |
| 19 | g.18075765G>A | CA9305119 | IL12RB1 | c.684C>T (p.Pro228=) c.804C>T (p.Pro268=) c.816C>T (p.Pro272=) c.696C>T (p.Pro232=) c.81C>T (p.Pro27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075765G>C | CA9305120 | IL12RB1 | c.684C>G (p.Pro228=) c.804C>G (p.Pro268=) c.816C>G (p.Pro272=) c.696C>G (p.Pro232=) c.81C>G (p.Pro27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075765G= | CA2326172845 | IL12RB1 | c.684C= (p.Pro228=) c.804C= (p.Pro268=) c.816C= (p.Pro272=) c.696C= (p.Pro232=) c.81C= (p.Pro27=) | |
| 19 | g.18075765G>T | CA506032248 | IL12RB1 | c.684C>A (p.Pro228=) c.804C>A (p.Pro268=) c.816C>A (p.Pro272=) c.696C>A (p.Pro232=) c.81C>A (p.Pro27=) | dbSNP gnomAD v4 |
| 19 | g.18075766G>A | CA404781322 | IL12RB1 | c.683C>T (p.Pro228Leu) c.803C>T (p.Pro268Leu) c.815C>T (p.Pro272Leu) c.695C>T (p.Pro232Leu) c.80C>T (p.Pro27Leu) | gnomAD v4 |
| 19 | g.18075766G>C | CA404781324 | IL12RB1 | c.683C>G (p.Pro228Arg) c.803C>G (p.Pro268Arg) c.815C>G (p.Pro272Arg) c.695C>G (p.Pro232Arg) c.80C>G (p.Pro27Arg) | |
| 19 | g.18075766G>T | CA404781327 | IL12RB1 | c.683C>A (p.Pro228His) c.803C>A (p.Pro268His) c.815C>A (p.Pro272His) c.695C>A (p.Pro232His) c.80C>A (p.Pro27His) | |
| 19 | g.18075767G>A | CA9305121 | IL12RB1 | c.682C>T (p.Pro228Ser) c.802C>T (p.Pro268Ser) c.814C>T (p.Pro272Ser) c.694C>T (p.Pro232Ser) c.79C>T (p.Pro27Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075767G>C | CA404781331 | IL12RB1 | c.682C>G (p.Pro228Ala) c.802C>G (p.Pro268Ala) c.814C>G (p.Pro272Ala) c.694C>G (p.Pro232Ala) c.79C>G (p.Pro27Ala) | |
| 19 | g.18075767G= | CA2326172851 | IL12RB1 | c.682C= (p.Pro228=) c.802C= (p.Pro268=) c.814C= (p.Pro272=) c.694C= (p.Pro232=) c.79C= (p.Pro27=) | |
| 19 | g.18075767G>T | CA404781334 | IL12RB1 | c.682C>A (p.Pro228Thr) c.802C>A (p.Pro268Thr) c.814C>A (p.Pro272Thr) c.694C>A (p.Pro232Thr) c.79C>A (p.Pro27Thr) | gnomAD v4 |
| 19 | g.18075768G>A | CA506032260 | IL12RB1 | c.681C>T (p.Ser227=) c.801C>T (p.Ser267=) c.813C>T (p.Ser271=) c.693C>T (p.Ser231=) c.78C>T (p.Ser26=) | |
| 19 | g.18075768G>C | CA404781337 | IL12RB1 | c.681C>G (p.Ser227Arg) c.801C>G (p.Ser267Arg) c.813C>G (p.Ser271Arg) c.693C>G (p.Ser231Arg) c.78C>G (p.Ser26Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18075768G= | CA2326172853 | IL12RB1 | c.681C= (p.Ser227=) c.801C= (p.Ser267=) c.813C= (p.Ser271=) c.693C= (p.Ser231=) c.78C= (p.Ser26=) | |
| 19 | g.18075768G>T | CA9305122 | IL12RB1 | c.681C>A (p.Ser227Arg) c.801C>A (p.Ser267Arg) c.813C>A (p.Ser271Arg) c.693C>A (p.Ser231Arg) c.78C>A (p.Ser26Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075769C>A | CA404781343 | IL12RB1 | c.680G>T (p.Ser227Ile) c.800G>T (p.Ser267Ile) c.812G>T (p.Ser271Ile) c.692G>T (p.Ser231Ile) c.77G>T (p.Ser26Ile) | |
| 19 | g.18075769C>G | CA404781344 | IL12RB1 | c.680G>C (p.Ser227Thr) c.800G>C (p.Ser267Thr) c.812G>C (p.Ser271Thr) c.692G>C (p.Ser231Thr) c.77G>C (p.Ser26Thr) | |
| 19 | g.18075769C>T | CA404781347 | IL12RB1 | c.680G>A (p.Ser227Asn) c.800G>A (p.Ser267Asn) c.812G>A (p.Ser271Asn) c.692G>A (p.Ser231Asn) c.77G>A (p.Ser26Asn) | gnomAD v4 |
| 19 | g.18075770T>A | CA404781349 | IL12RB1 | c.679A>T (p.Ser227Cys) c.799A>T (p.Ser267Cys) c.811A>T (p.Ser271Cys) c.691A>T (p.Ser231Cys) c.76A>T (p.Ser26Cys) | |
| 19 | g.18075770T>C | CA404781356 | IL12RB1 | c.679A>G (p.Ser227Gly) c.799A>G (p.Ser267Gly) c.811A>G (p.Ser271Gly) c.691A>G (p.Ser231Gly) c.76A>G (p.Ser26Gly) | |
| 19 | g.18075770T>G | CA404781357 | IL12RB1 | c.679A>C (p.Ser227Arg) c.799A>C (p.Ser267Arg) c.811A>C (p.Ser271Arg) c.691A>C (p.Ser231Arg) c.76A>C (p.Ser26Arg) | |
| 19 | g.18075771G>A | CA506032273 | IL12RB1 | c.678C>T (p.Ser226=) c.798C>T (p.Ser266=) c.810C>T (p.Ser270=) c.690C>T (p.Ser230=) c.75C>T (p.Ser25=) | |
| 19 | g.18075771G>C | CA404781359 | IL12RB1 | c.678C>G (p.Ser226Arg) c.798C>G (p.Ser266Arg) c.810C>G (p.Ser270Arg) c.690C>G (p.Ser230Arg) c.75C>G (p.Ser25Arg) | |
| 19 | g.18075771G>T | CA404781360 | IL12RB1 | c.678C>A (p.Ser226Arg) c.798C>A (p.Ser266Arg) c.810C>A (p.Ser270Arg) c.690C>A (p.Ser230Arg) c.75C>A (p.Ser25Arg) | |
| 19 | g.18075772C>A | CA404781362 | IL12RB1 | c.677G>T (p.Ser226Ile) c.797G>T (p.Ser266Ile) c.809G>T (p.Ser270Ile) c.689G>T (p.Ser230Ile) c.74G>T (p.Ser25Ile) | |
| 19 | g.18075772C>G | CA404781364 | IL12RB1 | c.677G>C (p.Ser226Thr) c.797G>C (p.Ser266Thr) c.809G>C (p.Ser270Thr) c.689G>C (p.Ser230Thr) c.74G>C (p.Ser25Thr) | |
| 19 | g.18075772C>T | CA404781365 | IL12RB1 | c.677G>A (p.Ser226Asn) c.797G>A (p.Ser266Asn) c.809G>A (p.Ser270Asn) c.689G>A (p.Ser230Asn) c.74G>A (p.Ser25Asn) | |
| 19 | g.18075773T>A | CA404781367 | IL12RB1 | c.676A>T (p.Ser226Cys) c.796A>T (p.Ser266Cys) c.808A>T (p.Ser270Cys) c.688A>T (p.Ser230Cys) c.73A>T (p.Ser25Cys) | |
| 19 | g.18075773T>C | CA404781369 | IL12RB1 | c.676A>G (p.Ser226Gly) c.796A>G (p.Ser266Gly) c.808A>G (p.Ser270Gly) c.688A>G (p.Ser230Gly) c.73A>G (p.Ser25Gly) | dbSNP |
| 19 | g.18075773T>G | CA404781373 | IL12RB1 | c.676A>C (p.Ser226Arg) c.796A>C (p.Ser266Arg) c.808A>C (p.Ser270Arg) c.688A>C (p.Ser230Arg) c.73A>C (p.Ser25Arg) | |
| 19 | g.18075773T= | CA2326172855 | IL12RB1 | c.676A= (p.Ser226=) c.796A= (p.Ser266=) c.808A= (p.Ser270=) c.688A= (p.Ser230=) c.73A= (p.Ser25=) | |
| 19 | g.18075774C>A | CA404781378 | IL12RB1 | c.675G>T (p.Trp225Cys) c.795G>T (p.Trp265Cys) c.807G>T (p.Trp269Cys) c.687G>T (p.Trp229Cys) c.72G>T (p.Trp24Cys) | |
| 19 | g.18075774C>G | CA404781381 | IL12RB1 | c.675G>C (p.Trp225Cys) c.795G>C (p.Trp265Cys) c.807G>C (p.Trp269Cys) c.687G>C (p.Trp229Cys) c.72G>C (p.Trp24Cys) | |
| 19 | g.18075774C>T | CA404781376 | IL12RB1 | c.675G>A (p.Trp225Ter) c.795G>A (p.Trp265Ter) c.807G>A (p.Trp269Ter) c.687G>A (p.Trp229Ter) c.72G>A (p.Trp24Ter) | |
| 19 | g.18075775C>A | CA404781382 | IL12RB1 | c.674G>T (p.Trp225Leu) c.794G>T (p.Trp265Leu) c.806G>T (p.Trp269Leu) c.686G>T (p.Trp229Leu) c.71G>T (p.Trp24Leu) | |
| 19 | g.18075775C>G | CA404781384 | IL12RB1 | c.674G>C (p.Trp225Ser) c.794G>C (p.Trp265Ser) c.806G>C (p.Trp269Ser) c.686G>C (p.Trp229Ser) c.71G>C (p.Trp24Ser) | |
| 19 | g.18075775C>T | CA404781383 | IL12RB1 | c.674G>A (p.Trp225Ter) c.794G>A (p.Trp265Ter) c.806G>A (p.Trp269Ter) c.686G>A (p.Trp229Ter) c.71G>A (p.Trp24Ter) | |
| 19 | g.18075776A>C | CA404781386 | IL12RB1 | c.673T>G (p.Trp225Gly) c.793T>G (p.Trp265Gly) c.805T>G (p.Trp269Gly) c.685T>G (p.Trp229Gly) c.70T>G (p.Trp24Gly) | |
| 19 | g.18075776A>G | CA404781389 | IL12RB1 | c.673T>C (p.Trp225Arg) c.793T>C (p.Trp265Arg) c.805T>C (p.Trp269Arg) c.685T>C (p.Trp229Arg) c.70T>C (p.Trp24Arg) | |
| 19 | g.18075776A>T | CA404781387 | IL12RB1 | c.673T>A (p.Trp225Arg) c.793T>A (p.Trp265Arg) c.805T>A (p.Trp269Arg) c.685T>A (p.Trp229Arg) c.70T>A (p.Trp24Arg) | |
| 19 | g.18075777C>A | CA404781390 | IL12RB1 | c.672G>T (p.Lys224Asn) c.792G>T (p.Lys264Asn) c.804G>T (p.Lys268Asn) c.684G>T (p.Lys228Asn) c.69G>T (p.Lys23Asn) | |
| 19 | g.18075777C>G | CA404781391 | IL12RB1 | c.672G>C (p.Lys224Asn) c.792G>C (p.Lys264Asn) c.804G>C (p.Lys268Asn) c.684G>C (p.Lys228Asn) c.69G>C (p.Lys23Asn) | |
| 19 | g.18075777C>T | CA506032297 | IL12RB1 | c.672G>A (p.Lys224=) c.792G>A (p.Lys264=) c.804G>A (p.Lys268=) c.684G>A (p.Lys228=) c.69G>A (p.Lys23=) | dbSNP |
| 19 | g.18075778T>A | CA404781393 | IL12RB1 | c.671A>T (p.Lys224Met) c.791A>T (p.Lys264Met) c.803A>T (p.Lys268Met) c.683A>T (p.Lys228Met) c.68A>T (p.Lys23Met) | |
| 19 | g.18075778T>C | CA404781396 | IL12RB1 | c.671A>G (p.Lys224Arg) c.791A>G (p.Lys264Arg) c.803A>G (p.Lys268Arg) c.683A>G (p.Lys228Arg) c.68A>G (p.Lys23Arg) | |
| 19 | g.18075778T>G | CA404781394 | IL12RB1 | c.671A>C (p.Lys224Thr) c.791A>C (p.Lys264Thr) c.803A>C (p.Lys268Thr) c.683A>C (p.Lys228Thr) c.68A>C (p.Lys23Thr) | |
| 19 | g.18075779T>A | CA404781398 | IL12RB1 | c.670A>T (p.Lys224Ter) c.790A>T (p.Lys264Ter) c.802A>T (p.Lys268Ter) c.682A>T (p.Lys228Ter) c.67A>T (p.Lys23Ter) | |
| 19 | g.18075779T>C | CA404781403 | IL12RB1 | c.670A>G (p.Lys224Glu) c.790A>G (p.Lys264Glu) c.802A>G (p.Lys268Glu) c.682A>G (p.Lys228Glu) c.67A>G (p.Lys23Glu) | |
| 19 | g.18075779T>G | CA404781402 | IL12RB1 | c.670A>C (p.Lys224Gln) c.790A>C (p.Lys264Gln) c.802A>C (p.Lys268Gln) c.682A>C (p.Lys228Gln) c.67A>C (p.Lys23Gln) | |
| 19 | g.18075780G>A | CA506032309 | IL12RB1 | c.669C>T (p.Ser223=) c.789C>T (p.Ser263=) c.801C>T (p.Ser267=) c.681C>T (p.Ser227=) c.66C>T (p.Ser22=) | |
| 19 | g.18075780G>C | CA404781408 | IL12RB1 | c.669C>G (p.Ser223Arg) c.789C>G (p.Ser263Arg) c.801C>G (p.Ser267Arg) c.681C>G (p.Ser227Arg) c.66C>G (p.Ser22Arg) | |
| 19 | g.18075780G>T | CA404781410 | IL12RB1 | c.669C>A (p.Ser223Arg) c.789C>A (p.Ser263Arg) c.801C>A (p.Ser267Arg) c.681C>A (p.Ser227Arg) c.66C>A (p.Ser22Arg) | gnomAD v4 |
| 19 | g.18075781C>A | CA404781413 | IL12RB1 | c.668G>T (p.Ser223Ile) c.788G>T (p.Ser263Ile) c.800G>T (p.Ser267Ile) c.680G>T (p.Ser227Ile) c.65G>T (p.Ser22Ile) | |
| 19 | g.18075781C>G | CA404781415 | IL12RB1 | c.668G>C (p.Ser223Thr) c.788G>C (p.Ser263Thr) c.800G>C (p.Ser267Thr) c.680G>C (p.Ser227Thr) c.65G>C (p.Ser22Thr) | |
| 19 | g.18075781C>T | CA404781417 | IL12RB1 | c.668G>A (p.Ser223Asn) c.788G>A (p.Ser263Asn) c.800G>A (p.Ser267Asn) c.680G>A (p.Ser227Asn) c.65G>A (p.Ser22Asn) | gnomAD v4 |
| 19 | g.18075782T>A | CA404781420 | IL12RB1 | c.667A>T (p.Ser223Cys) c.787A>T (p.Ser263Cys) c.799A>T (p.Ser267Cys) c.679A>T (p.Ser227Cys) c.64A>T (p.Ser22Cys) | gnomAD v4 |
| 19 | g.18075782T>C | CA404781422 | IL12RB1 | c.667A>G (p.Ser223Gly) c.787A>G (p.Ser263Gly) c.799A>G (p.Ser267Gly) c.679A>G (p.Ser227Gly) c.64A>G (p.Ser22Gly) | |
| 19 | g.18075782T>G | CA404781423 | IL12RB1 | c.667A>C (p.Ser223Arg) c.787A>C (p.Ser263Arg) c.799A>C (p.Ser267Arg) c.679A>C (p.Ser227Arg) c.64A>C (p.Ser22Arg) | |
| 19 | g.18075783C>A | CA404781426 | IL12RB1 | c.666G>T (p.Trp222Cys) c.786G>T (p.Trp262Cys) c.798G>T (p.Trp266Cys) c.678G>T (p.Trp226Cys) c.63G>T (p.Trp21Cys) | |
| 19 | g.18075783C>G | CA404781428 | IL12RB1 | c.666G>C (p.Trp222Cys) c.786G>C (p.Trp262Cys) c.798G>C (p.Trp266Cys) c.678G>C (p.Trp226Cys) c.63G>C (p.Trp21Cys) | ClinVar |
| 19 | g.18075783C>T | CA404781430 | IL12RB1 | c.666G>A (p.Trp222Ter) c.786G>A (p.Trp262Ter) c.798G>A (p.Trp266Ter) c.678G>A (p.Trp226Ter) c.63G>A (p.Trp21Ter) | |
| 19 | g.18075784C>A | CA404781436 | IL12RB1 | c.665G>T (p.Trp222Leu) c.785G>T (p.Trp262Leu) c.797G>T (p.Trp266Leu) c.677G>T (p.Trp226Leu) c.62G>T (p.Trp21Leu) | |
| 19 | g.18075784C>G | CA404781434 | IL12RB1 | c.665G>C (p.Trp222Ser) c.785G>C (p.Trp262Ser) c.797G>C (p.Trp266Ser) c.677G>C (p.Trp226Ser) c.62G>C (p.Trp21Ser) | |
| 19 | g.18075784C>T | CA404781432 | IL12RB1 | c.665G>A (p.Trp222Ter) c.785G>A (p.Trp262Ter) c.797G>A (p.Trp266Ter) c.677G>A (p.Trp226Ter) c.62G>A (p.Trp21Ter) | |
| 19 | g.18075785A= | CA2326172857 | IL12RB1 | c.664T= (p.Trp222=) c.784T= (p.Trp262=) c.796T= (p.Trp266=) c.676T= (p.Trp226=) c.61T= (p.Trp21=) | |
| 19 | g.18075785A>C | CA404781439 | IL12RB1 | c.664T>G (p.Trp222Gly) c.784T>G (p.Trp262Gly) c.796T>G (p.Trp266Gly) c.676T>G (p.Trp226Gly) c.61T>G (p.Trp21Gly) | |
| 19 | g.18075785A>G | CA9305123 | IL12RB1 | c.664T>C (p.Trp222Arg) c.784T>C (p.Trp262Arg) c.796T>C (p.Trp266Arg) c.676T>C (p.Trp226Arg) c.61T>C (p.Trp21Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075785A>T | CA404781442 | IL12RB1 | c.664T>A (p.Trp222Arg) c.784T>A (p.Trp262Arg) c.796T>A (p.Trp266Arg) c.676T>A (p.Trp226Arg) c.61T>A (p.Trp21Arg) | |
| 19 | g.18075786G>A | CA506032337 | IL12RB1 | c.663C>T (p.Ser221=) c.783C>T (p.Ser261=) c.795C>T (p.Ser265=) c.675C>T (p.Ser225=) c.60C>T (p.Ser20=) | gnomAD v4 |
| 19 | g.18075786G>C | CA506032339 | IL12RB1 | c.663C>G (p.Ser221=) c.783C>G (p.Ser261=) c.795C>G (p.Ser265=) c.675C>G (p.Ser225=) c.60C>G (p.Ser20=) | |
| 19 | g.18075786G>T | CA506032341 | IL12RB1 | c.663C>A (p.Ser221=) c.783C>A (p.Ser261=) c.795C>A (p.Ser265=) c.675C>A (p.Ser225=) c.60C>A (p.Ser20=) | |
| 19 | g.18075787del | CA2576772549 | IL12RB1 | c.663del (p.Trp222GlyfsTer20) c.783del (p.Trp262GlyfsTer20) c.795del (p.Trp266GlyfsTer17) c.783del (p.Trp262GlyfsTer17) c.795del (p.Trp266GlyfsTer20) c.675del (p.Trp226GlyfsTer17) c.663del (p.Trp222GlyfsTer17) c.60del (p.Trp21GlyfsTer17) | gnomAD v4 |
| 19 | g.18075787G>A | CA404781445 | IL12RB1 | c.662C>T (p.Ser221Phe) c.782C>T (p.Ser261Phe) c.794C>T (p.Ser265Phe) c.674C>T (p.Ser225Phe) c.59C>T (p.Ser20Phe) | dbSNP COSMIC COSMIC COSMIC |
| 19 | g.18075787G>C | CA404781447 | IL12RB1 | c.662C>G (p.Ser221Cys) c.782C>G (p.Ser261Cys) c.794C>G (p.Ser265Cys) c.674C>G (p.Ser225Cys) c.59C>G (p.Ser20Cys) | |
| 19 | g.18075787G= | CA2326172862 | IL12RB1 | c.662C= (p.Ser221=) c.782C= (p.Ser261=) c.794C= (p.Ser265=) c.674C= (p.Ser225=) c.59C= (p.Ser20=) | |
| 19 | g.18075787G>T | CA404781450 | IL12RB1 | c.662C>A (p.Ser221Tyr) c.782C>A (p.Ser261Tyr) c.794C>A (p.Ser265Tyr) c.674C>A (p.Ser225Tyr) c.59C>A (p.Ser20Tyr) | |
| 19 | g.18075788A>C | CA404781453 | IL12RB1 | c.661T>G (p.Ser221Ala) c.781T>G (p.Ser261Ala) c.793T>G (p.Ser265Ala) c.673T>G (p.Ser225Ala) c.58T>G (p.Ser20Ala) | |
| 19 | g.18075788A>G | CA404781456 | IL12RB1 | c.661T>C (p.Ser221Pro) c.781T>C (p.Ser261Pro) c.793T>C (p.Ser265Pro) c.673T>C (p.Ser225Pro) c.58T>C (p.Ser20Pro) | |
| 19 | g.18075788A>T | CA404781458 | IL12RB1 | c.661T>A (p.Ser221Thr) c.781T>A (p.Ser261Thr) c.793T>A (p.Ser265Thr) c.673T>A (p.Ser225Thr) c.58T>A (p.Ser20Thr) | |
| 19 | g.18075789A= | CA2326172866 | IL12RB1 | c.660T= (p.Ser220=) c.780T= (p.Ser260=) c.792T= (p.Ser264=) c.672T= (p.Ser224=) c.57T= (p.Ser19=) | |
| 19 | g.18075789A>C | CA404781460 | IL12RB1 | c.660T>G (p.Ser220Arg) c.780T>G (p.Ser260Arg) c.792T>G (p.Ser264Arg) c.672T>G (p.Ser224Arg) c.57T>G (p.Ser19Arg) | |
| 19 | g.18075789A>G | CA506032355 | IL12RB1 | c.660T>C (p.Ser220=) c.780T>C (p.Ser260=) c.792T>C (p.Ser264=) c.672T>C (p.Ser224=) c.57T>C (p.Ser19=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075789A>T | CA404781462 | IL12RB1 | c.660T>A (p.Ser220Arg) c.780T>A (p.Ser260Arg) c.792T>A (p.Ser264Arg) c.672T>A (p.Ser224Arg) c.57T>A (p.Ser19Arg) | |
| 19 | g.18075790C>A | CA404781472 | IL12RB1 | c.659G>T (p.Ser220Ile) c.779G>T (p.Ser260Ile) c.791G>T (p.Ser264Ile) c.671G>T (p.Ser224Ile) c.56G>T (p.Ser19Ile) | |
| 19 | g.18075790C= | CA2326172868 | IL12RB1 | c.659G= (p.Ser220=) c.779G= (p.Ser260=) c.791G= (p.Ser264=) c.671G= (p.Ser224=) c.56G= (p.Ser19=) | |
| 19 | g.18075790C>G | CA404781468 | IL12RB1 | c.659G>C (p.Ser220Thr) c.779G>C (p.Ser260Thr) c.791G>C (p.Ser264Thr) c.671G>C (p.Ser224Thr) c.56G>C (p.Ser19Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18075790C>T | CA404781465 | IL12RB1 | c.659G>A (p.Ser220Asn) c.779G>A (p.Ser260Asn) c.791G>A (p.Ser264Asn) c.671G>A (p.Ser224Asn) c.56G>A (p.Ser19Asn) | |
| 19 | g.18075791T>A | CA404781473 | IL12RB1 | c.658A>T (p.Ser220Cys) c.778A>T (p.Ser260Cys) c.790A>T (p.Ser264Cys) c.670A>T (p.Ser224Cys) c.55A>T (p.Ser19Cys) | |
| 19 | g.18075791T>C | CA9305124 | IL12RB1 | c.658A>G (p.Ser220Gly) c.778A>G (p.Ser260Gly) c.790A>G (p.Ser264Gly) c.670A>G (p.Ser224Gly) c.55A>G (p.Ser19Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18075791T>G | CA404781477 | IL12RB1 | c.658A>C (p.Ser220Arg) c.778A>C (p.Ser260Arg) c.790A>C (p.Ser264Arg) c.670A>C (p.Ser224Arg) c.55A>C (p.Ser19Arg) | |
| 19 | g.18075791T= | CA2326172872 | IL12RB1 | c.658A= (p.Ser220=) c.778A= (p.Ser260=) c.790A= (p.Ser264=) c.670A= (p.Ser224=) c.55A= (p.Ser19=) | |
| 19 | g.18075792T>A | CA506032368 | IL12RB1 | c.657A>T (p.Gly219=) c.777A>T (p.Gly259=) c.789A>T (p.Gly263=) c.669A>T (p.Gly223=) c.54A>T (p.Gly18=) | |
| 19 | g.18075792T>C | CA506032375 | IL12RB1 | c.657A>G (p.Gly219=) c.777A>G (p.Gly259=) c.789A>G (p.Gly263=) c.669A>G (p.Gly223=) c.54A>G (p.Gly18=) | |
| 19 | g.18075792T>G | CA506032376 | IL12RB1 | c.657A>C (p.Gly219=) c.777A>C (p.Gly259=) c.789A>C (p.Gly263=) c.669A>C (p.Gly223=) c.54A>C (p.Gly18=) | |
| 19 | g.18075793C>A | CA404781480 | IL12RB1 | c.656G>T (p.Gly219Val) c.776G>T (p.Gly259Val) c.788G>T (p.Gly263Val) c.668G>T (p.Gly223Val) c.53G>T (p.Gly18Val) | |
| 19 | g.18075793C>G | CA404781482 | IL12RB1 | c.656G>C (p.Gly219Ala) c.776G>C (p.Gly259Ala) c.788G>C (p.Gly263Ala) c.668G>C (p.Gly223Ala) c.53G>C (p.Gly18Ala) | |
| 19 | g.18075793C>T | CA404781484 | IL12RB1 | c.656G>A (p.Gly219Glu) c.776G>A (p.Gly259Glu) c.788G>A (p.Gly263Glu) c.668G>A (p.Gly223Glu) c.53G>A (p.Gly18Glu) | COSMIC COSMIC COSMIC |
| 19 | g.18075794C>A | CA404781487 | IL12RB1 | c.655G>T (p.Gly219Ter) c.775G>T (p.Gly259Ter) c.787G>T (p.Gly263Ter) c.667G>T (p.Gly223Ter) c.52G>T (p.Gly18Ter) | |
| 19 | g.18075794C>G | CA404781489 | IL12RB1 | c.655G>C (p.Gly219Arg) c.775G>C (p.Gly259Arg) c.787G>C (p.Gly263Arg) c.667G>C (p.Gly223Arg) c.52G>C (p.Gly18Arg) | |
| 19 | g.18075794C>T | CA404781492 | IL12RB1 | c.655G>A (p.Gly219Arg) c.775G>A (p.Gly259Arg) c.787G>A (p.Gly263Arg) c.667G>A (p.Gly223Arg) c.52G>A (p.Gly18Arg) | |
| 19 | g.18075795T>A | CA404781494 | IL12RB1 | c.654A>T (p.Gln218His) c.774A>T (p.Gln258His) c.786A>T (p.Gln262His) c.666A>T (p.Gln222His) c.51A>T (p.Gln17His) | |
| 19 | g.18075795T>C | CA506032390 | IL12RB1 | c.654A>G (p.Gln218=) c.774A>G (p.Gln258=) c.786A>G (p.Gln262=) c.666A>G (p.Gln222=) c.51A>G (p.Gln17=) | |
| 19 | g.18075795T>G | CA404781497 | IL12RB1 | c.654A>C (p.Gln218His) c.774A>C (p.Gln258His) c.786A>C (p.Gln262His) c.666A>C (p.Gln222His) c.51A>C (p.Gln17His) | |
| 19 | g.18075796T>A | CA404781505 | IL12RB1 | c.653A>T (p.Gln218Leu) c.773A>T (p.Gln258Leu) c.785A>T (p.Gln262Leu) c.665A>T (p.Gln222Leu) c.50A>T (p.Gln17Leu) | |
| 19 | g.18075796T>C | CA404781502 | IL12RB1 | c.653A>G (p.Gln218Arg) c.773A>G (p.Gln258Arg) c.785A>G (p.Gln262Arg) c.665A>G (p.Gln222Arg) c.50A>G (p.Gln17Arg) | |
| 19 | g.18075796T>G | CA9305125 | IL12RB1 | c.653A>C (p.Gln218Pro) c.773A>C (p.Gln258Pro) c.785A>C (p.Gln262Pro) c.665A>C (p.Gln222Pro) c.50A>C (p.Gln17Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075796T= | CA2326172876 | IL12RB1 | c.653A= (p.Gln218=) c.773A= (p.Gln258=) c.785A= (p.Gln262=) c.665A= (p.Gln222=) c.50A= (p.Gln17=) | |
| 19 | g.18075797G>A | CA404781510 | IL12RB1 | c.652C>T (p.Gln218Ter) c.772C>T (p.Gln258Ter) c.784C>T (p.Gln262Ter) c.664C>T (p.Gln222Ter) c.49C>T (p.Gln17Ter) | |
| 19 | g.18075797G>C | CA404781513 | IL12RB1 | c.652C>G (p.Gln218Glu) c.772C>G (p.Gln258Glu) c.784C>G (p.Gln262Glu) c.664C>G (p.Gln222Glu) c.49C>G (p.Gln17Glu) | |
| 19 | g.18075797G>T | CA404781514 | IL12RB1 | c.652C>A (p.Gln218Lys) c.772C>A (p.Gln258Lys) c.784C>A (p.Gln262Lys) c.664C>A (p.Gln222Lys) c.49C>A (p.Gln17Lys) | |
| 19 | g.18075798G>A | CA506032404 | IL12RB1 | c.651C>T (p.Ser217=) c.771C>T (p.Ser257=) c.783C>T (p.Ser261=) c.663C>T (p.Ser221=) c.48C>T (p.Ser16=) | |
| 19 | g.18075798G>C | CA404781525 | IL12RB1 | c.651C>G (p.Ser217Arg) c.771C>G (p.Ser257Arg) c.783C>G (p.Ser261Arg) c.663C>G (p.Ser221Arg) c.48C>G (p.Ser16Arg) | |
| 19 | g.18075798G= | CA2326172882 | IL12RB1 | c.651C= (p.Ser217=) c.771C= (p.Ser257=) c.783C= (p.Ser261=) c.663C= (p.Ser221=) c.48C= (p.Ser16=) | |
| 19 | g.18075798G>T | CA306164083 | IL12RB1 | c.651C>A (p.Ser217Arg) c.771C>A (p.Ser257Arg) c.783C>A (p.Ser261Arg) c.663C>A (p.Ser221Arg) c.48C>A (p.Ser16Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18075799C>A | CA404781529 | IL12RB1 | c.650G>T (p.Ser217Ile) c.770G>T (p.Ser257Ile) c.782G>T (p.Ser261Ile) c.662G>T (p.Ser221Ile) c.47G>T (p.Ser16Ile) | |
| 19 | g.18075799C>G | CA404781532 | IL12RB1 | c.650G>C (p.Ser217Thr) c.770G>C (p.Ser257Thr) c.782G>C (p.Ser261Thr) c.662G>C (p.Ser221Thr) c.47G>C (p.Ser16Thr) | |
| 19 | g.18075799C>T | CA404781536 | IL12RB1 | c.650G>A (p.Ser217Asn) c.770G>A (p.Ser257Asn) c.782G>A (p.Ser261Asn) c.662G>A (p.Ser221Asn) c.47G>A (p.Ser16Asn) | |
| 19 | g.18075800T>A | CA404781537 | IL12RB1 | c.649A>T (p.Ser217Cys) c.769A>T (p.Ser257Cys) c.781A>T (p.Ser261Cys) c.661A>T (p.Ser221Cys) c.46A>T (p.Ser16Cys) | |
| 19 | g.18075800T>C | CA404781539 | IL12RB1 | c.649A>G (p.Ser217Gly) c.769A>G (p.Ser257Gly) c.781A>G (p.Ser261Gly) c.661A>G (p.Ser221Gly) c.46A>G (p.Ser16Gly) | dbSNP |
| 19 | g.18075800T>G | CA404781541 | IL12RB1 | c.649A>C (p.Ser217Arg) c.769A>C (p.Ser257Arg) c.781A>C (p.Ser261Arg) c.661A>C (p.Ser221Arg) c.46A>C (p.Ser16Arg) | |
| 19 | g.18075801C>A | CA9305126 | IL12RB1 | c.648G>T (p.Gly216=) c.768G>T (p.Gly256=) c.780G>T (p.Gly260=) c.660G>T (p.Gly220=) c.45G>T (p.Gly15=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075801C= | CA2326172887 | IL12RB1 | c.648G= (p.Gly216=) c.768G= (p.Gly256=) c.780G= (p.Gly260=) c.660G= (p.Gly220=) c.45G= (p.Gly15=) | |
| 19 | g.18075801C>G | CA506032422 | IL12RB1 | c.648G>C (p.Gly216=) c.768G>C (p.Gly256=) c.780G>C (p.Gly260=) c.660G>C (p.Gly220=) c.45G>C (p.Gly15=) | |
| 19 | g.18075801C>T | CA306164085 | IL12RB1 | c.648G>A (p.Gly216=) c.768G>A (p.Gly256=) c.780G>A (p.Gly260=) c.660G>A (p.Gly220=) c.45G>A (p.Gly15=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18075804del | CA2576772550 | IL12RB1 | c.648del (p.Ser217AlafsTer25) c.768del (p.Ser257AlafsTer25) c.780del (p.Ser261AlafsTer22) c.768del (p.Ser257AlafsTer22) c.780del (p.Ser261AlafsTer25) c.660del (p.Ser221AlafsTer22) c.648del (p.Ser217AlafsTer22) c.45del (p.Ser16AlafsTer22) | gnomAD v4 |
| 19 | g.18075802C>A | CA404781547 | IL12RB1 | c.647G>T (p.Gly216Val) c.767G>T (p.Gly256Val) c.779G>T (p.Gly260Val) c.659G>T (p.Gly220Val) c.44G>T (p.Gly15Val) | |
| 19 | g.18075802C>G | CA404781546 | IL12RB1 | c.647G>C (p.Gly216Ala) c.767G>C (p.Gly256Ala) c.779G>C (p.Gly260Ala) c.659G>C (p.Gly220Ala) c.44G>C (p.Gly15Ala) | |
| 19 | g.18075802C>T | CA404781544 | IL12RB1 | c.647G>A (p.Gly216Glu) c.767G>A (p.Gly256Glu) c.779G>A (p.Gly260Glu) c.659G>A (p.Gly220Glu) c.44G>A (p.Gly15Glu) | |
| 19 | g.18075803C>A | CA404781551 | IL12RB1 | c.646G>T (p.Gly216Trp) c.766G>T (p.Gly256Trp) c.778G>T (p.Gly260Trp) c.658G>T (p.Gly220Trp) c.43G>T (p.Gly15Trp) | |
| 19 | g.18075803C>G | CA404781555 | IL12RB1 | c.646G>C (p.Gly216Arg) c.766G>C (p.Gly256Arg) c.778G>C (p.Gly260Arg) c.658G>C (p.Gly220Arg) c.43G>C (p.Gly15Arg) | |
| 19 | g.18075803C>T | CA404781554 | IL12RB1 | c.646G>A (p.Gly216Arg) c.766G>A (p.Gly256Arg) c.778G>A (p.Gly260Arg) c.658G>A (p.Gly220Arg) c.43G>A (p.Gly15Arg) | gnomAD v4 |
| 19 | g.18075804C>A | CA506032435 | IL12RB1 | c.645G>T (p.Leu215=) c.765G>T (p.Leu255=) c.777G>T (p.Leu259=) c.657G>T (p.Leu219=) c.42G>T (p.Leu14=) | COSMIC COSMIC COSMIC |
| 19 | g.18075804C>G | CA506032439 | IL12RB1 | c.645G>C (p.Leu215=) c.765G>C (p.Leu255=) c.777G>C (p.Leu259=) c.657G>C (p.Leu219=) c.42G>C (p.Leu14=) | |
| 19 | g.18075804C>T | CA506032443 | IL12RB1 | c.645G>A (p.Leu215=) c.765G>A (p.Leu255=) c.777G>A (p.Leu259=) c.657G>A (p.Leu219=) c.42G>A (p.Leu14=) | |
| 19 | g.18075805del | CA2583512012 | IL12RB1 | c.644del (p.Leu215ArgfsTer27) c.764del (p.Leu255ArgfsTer27) c.776del (p.Leu259ArgfsTer24) c.764del (p.Leu255ArgfsTer24) c.776del (p.Leu259ArgfsTer27) c.656del (p.Leu219ArgfsTer24) c.644del (p.Leu215ArgfsTer24) c.41del (p.Leu14ArgfsTer24) | gnomAD v4 |
| 19 | g.18075805A= | CA2326172892 | IL12RB1 | c.644T= (p.Leu215=) c.764T= (p.Leu255=) c.776T= (p.Leu259=) c.656T= (p.Leu219=) c.41T= (p.Leu14=) | |
| 19 | g.18075805A>C | CA404781556 | IL12RB1 | c.644T>G (p.Leu215Arg) c.764T>G (p.Leu255Arg) c.776T>G (p.Leu259Arg) c.656T>G (p.Leu219Arg) c.41T>G (p.Leu14Arg) | |
| 19 | g.18075805A>G | CA404781557 | IL12RB1 | c.644T>C (p.Leu215Pro) c.764T>C (p.Leu255Pro) c.776T>C (p.Leu259Pro) c.656T>C (p.Leu219Pro) c.41T>C (p.Leu14Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18075805A>T | CA404781558 | IL12RB1 | c.644T>A (p.Leu215Gln) c.764T>A (p.Leu255Gln) c.776T>A (p.Leu259Gln) c.656T>A (p.Leu219Gln) c.41T>A (p.Leu14Gln) | gnomAD v4 |
| 19 | g.18075805_18075808delinsAGCT | CA2326172891 | IL12RB1 | c.641_644delinsAGCT (p.Gln214=) c.761_764delinsAGCT (p.Gln254=) c.773_776delinsAGCT (p.Gln258=) c.653_656delinsAGCT (p.Gln218=) c.38_41delinsAGCT (p.Gln13=) | |
| 19 | g.18075805_18075821dup | CA2695228486 | IL12RB1 | c.628_644dup (p.Gly216SerfsTer32) c.748_764dup (p.Gly256SerfsTer32) c.760_776dup (p.Gly260SerfsTer29) c.748_764dup (p.Gly256SerfsTer29) c.760_776dup (p.Gly260SerfsTer32) c.640_656dup (p.Gly220SerfsTer29) c.628_644dup (p.Gly216SerfsTer29) c.25_41dup (p.Gly15SerfsTer29) | |
| 19 | g.18075806G>A | CA506032448 | IL12RB1 | c.643C>T (p.Leu215=) c.763C>T (p.Leu255=) c.775C>T (p.Leu259=) c.655C>T (p.Leu219=) c.40C>T (p.Leu14=) | |
| 19 | g.18075806G>C | CA404781560 | IL12RB1 | c.643C>G (p.Leu215Val) c.763C>G (p.Leu255Val) c.775C>G (p.Leu259Val) c.655C>G (p.Leu219Val) c.40C>G (p.Leu14Val) | |
| 19 | g.18075806G>T | CA404781561 | IL12RB1 | c.643C>A (p.Leu215Met) c.763C>A (p.Leu255Met) c.775C>A (p.Leu259Met) c.655C>A (p.Leu219Met) c.40C>A (p.Leu14Met) | |
| 19 | g.18075808_18075810del | CA9305127 | IL12RB1 | c.641_643del (p.Gln214del) c.761_763del (p.Gln254del) c.773_775del (p.Gln258del) c.653_655del (p.Gln218del) c.38_40del (p.Gln13del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18075807C>A | CA404781563 | IL12RB1 | c.642G>T (p.Gln214His) c.762G>T (p.Gln254His) c.774G>T (p.Gln258His) c.654G>T (p.Gln218His) c.39G>T (p.Gln13His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18075807C= | CA2326172897 | IL12RB1 | c.642G= (p.Gln214=) c.762G= (p.Gln254=) c.774G= (p.Gln258=) c.654G= (p.Gln218=) c.39G= (p.Gln13=) | |
| 19 | g.18075807C>G | CA404781564 | IL12RB1 | c.642G>C (p.Gln214His) c.762G>C (p.Gln254His) c.774G>C (p.Gln258His) c.654G>C (p.Gln218His) c.39G>C (p.Gln13His) | |
| 19 | g.18075807C>T | CA506032454 | IL12RB1 | c.642G>A (p.Gln214=) c.762G>A (p.Gln254=) c.774G>A (p.Gln258=) c.654G>A (p.Gln218=) c.39G>A (p.Gln13=) | |
| 19 | g.18075808T>A | CA404781565 | IL12RB1 | c.641A>T (p.Gln214Leu) c.761A>T (p.Gln254Leu) c.773A>T (p.Gln258Leu) c.653A>T (p.Gln218Leu) c.38A>T (p.Gln13Leu) | |
| 19 | g.18075808T>C | CA9305128 | IL12RB1 | c.641A>G (p.Gln214Arg) c.761A>G (p.Gln254Arg) c.773A>G (p.Gln258Arg) c.653A>G (p.Gln218Arg) c.38A>G (p.Gln13Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18075808T>G | CA404781566 | IL12RB1 | c.641A>C (p.Gln214Pro) c.761A>C (p.Gln254Pro) c.773A>C (p.Gln258Pro) c.653A>C (p.Gln218Pro) c.38A>C (p.Gln13Pro) | |
| 19 | g.18075808T= | CA2326172904 | IL12RB1 | c.641A= (p.Gln214=) c.761A= (p.Gln254=) c.773A= (p.Gln258=) c.653A= (p.Gln218=) c.38A= (p.Gln13=) | |
| 19 | g.18075808_18075811delinsTGCC | CA2326172901 | IL12RB1 | c.638_641delinsGGCA (p.Arg213=) c.758_761delinsGGCA (p.Arg253=) c.770_773delinsGGCA (p.Arg257=) c.650_653delinsGGCA (p.Arg217=) c.35_38delinsGGCA (p.Arg12=) |