Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.177047260T>C | CA2668596701 | TBL1XR1,TBL1XR1-AS1 | c.864+40A>G (n.864+40A>G) c.603+40A>G (n.603+40A>G) c.469+40A>G c.894+40A>G (n.894+40A>G) c.903+40A>G (n.903+40A>G) n.518-374T>C | gnomAD v4 |
3 | g.177047261_177047262del | CA2668596700 | TBL1XR1,TBL1XR1-AS1 | c.864+39_864+40del (n.864+39_864+40del) c.603+39_603+40del (n.603+39_603+40del) c.469+39_469+40del c.894+39_894+40del (n.894+39_894+40del) c.903+39_903+40del (n.903+39_903+40del) n.518-373_518-372del | gnomAD v4 |
3 | g.177047261G>T | CA2668596702 | TBL1XR1,TBL1XR1-AS1 | c.864+39C>A (n.864+39C>A) c.603+39C>A (n.603+39C>A) c.469+39C>A c.894+39C>A (n.894+39C>A) c.903+39C>A (n.903+39C>A) n.518-373G>T | gnomAD v4 |
3 | g.177047262T>C | CA2668596703 | TBL1XR1,TBL1XR1-AS1 | c.864+38A>G (n.864+38A>G) c.603+38A>G (n.603+38A>G) c.469+38A>G c.894+38A>G (n.894+38A>G) c.903+38A>G (n.903+38A>G) n.518-372T>C | gnomAD v4 |
3 | g.177047264A>T | CA2668596704 | TBL1XR1,TBL1XR1-AS1 | c.864+36T>A (n.864+36T>A) c.603+36T>A (n.603+36T>A) c.469+36T>A c.894+36T>A (n.894+36T>A) c.903+36T>A (n.903+36T>A) n.518-370A>T | gnomAD v4 |
3 | g.177047264_177047274delinsATACATTTGCC | CA1422667502 | TBL1XR1,TBL1XR1-AS1 | c.864+26_864+36delinsGGCAAATGTAT (n.864+26_864+36delinsGGCAAATGTAT) c.603+26_603+36delinsGGCAAATGTAT (n.603+26_603+36delinsGGCAAATGTAT) c.469+26_469+36delinsGGCAAATGTAT c.894+26_894+36delinsGGCAAATGTAT (n.894+26_894+36delinsGGCAAATGTAT) c.903+26_903+36delinsGGCAAATGTAT (n.903+26_903+36delinsGGCAAATGTAT) n.518-370_518-360delinsATACATTTGCC | |
3 | g.177047266_177047275del | CA1422667503 | TBL1XR1,TBL1XR1-AS1 | c.864+26_864+35del (n.864+26_864+35del) c.603+26_603+35del (n.603+26_603+35del) c.469+26_469+35del c.894+26_894+35del (n.894+26_894+35del) c.903+26_903+35del (n.903+26_903+35del) n.518-368_518-359del | dbSNP |
3 | g.177047266A>T | CA2668596705 | TBL1XR1,TBL1XR1-AS1 | c.864+34T>A (n.864+34T>A) c.603+34T>A (n.603+34T>A) c.469+34T>A c.894+34T>A (n.894+34T>A) c.903+34T>A (n.903+34T>A) n.518-368A>T | gnomAD v4 |
3 | g.177047267C>A | CA548242931 | TBL1XR1,TBL1XR1-AS1 | c.864+33G>T (n.864+33G>T) c.603+33G>T (n.603+33G>T) c.469+33G>T c.894+33G>T (n.894+33G>T) c.903+33G>T (n.903+33G>T) n.518-367C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.177047267C= | CA1422667504 | TBL1XR1,TBL1XR1-AS1 | c.864+33G= (n.864+33G=) c.603+33G= (n.603+33G=) c.469+33G= c.894+33G= (n.894+33G=) c.903+33G= (n.903+33G=) n.518-367C= | |
3 | g.177047267C>T | CA1056720953 | TBL1XR1,TBL1XR1-AS1 | c.864+33G>A (n.864+33G>A) c.603+33G>A (n.603+33G>A) c.469+33G>A c.894+33G>A (n.894+33G>A) c.903+33G>A (n.903+33G>A) n.518-367C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.177047268A= | CA1422667505 | TBL1XR1,TBL1XR1-AS1 | c.864+32T= (n.864+32T=) c.603+32T= (n.603+32T=) c.469+32T= c.894+32T= (n.894+32T=) c.903+32T= (n.903+32T=) n.518-366A= | |
3 | g.177047268A>C | CA2668596707 | TBL1XR1,TBL1XR1-AS1 | c.864+32T>G (n.864+32T>G) c.603+32T>G (n.603+32T>G) c.469+32T>G c.894+32T>G (n.894+32T>G) c.903+32T>G (n.903+32T>G) n.518-366A>C | gnomAD v4 |
3 | g.177047268A>G | CA1422667506 | TBL1XR1,TBL1XR1-AS1 | c.864+32T>C (n.864+32T>C) c.603+32T>C (n.603+32T>C) c.469+32T>C c.894+32T>C (n.894+32T>C) c.903+32T>C (n.903+32T>C) n.518-366A>G | dbSNP gnomAD v4 |
3 | g.177047268_177047271dup | CA2668596706 | TBL1XR1,TBL1XR1-AS1 | c.864+29_864+32dup (n.864+29_864+32dup) c.603+29_603+32dup (n.603+29_603+32dup) c.469+29_469+32dup c.894+29_894+32dup (n.894+29_894+32dup) c.903+29_903+32dup (n.903+29_903+32dup) n.518-366_518-363dup | gnomAD v4 |
3 | g.177047271T>A | CA89088925 | TBL1XR1,TBL1XR1-AS1 | c.864+29A>T (n.864+29A>T) c.603+29A>T (n.603+29A>T) c.469+29A>T c.894+29A>T (n.894+29A>T) c.903+29A>T (n.903+29A>T) n.518-363T>A | dbSNP gnomAD v4 |
3 | g.177047271T>C | CA2759515820 | TBL1XR1,TBL1XR1-AS1 | c.864+29A>G (n.864+29A>G) c.603+29A>G (n.603+29A>G) c.469+29A>G c.894+29A>G (n.894+29A>G) c.903+29A>G (n.903+29A>G) n.518-363T>C | |
3 | g.177047271T= | CA1422667507 | TBL1XR1,TBL1XR1-AS1 | c.864+29A= (n.864+29A=) c.603+29A= (n.603+29A=) c.469+29A= c.894+29A= (n.894+29A=) c.903+29A= (n.903+29A=) n.518-363T= | |
3 | g.177047272del | CA2668596708 | TBL1XR1,TBL1XR1-AS1 | c.864+28del (n.864+28del) c.603+28del (n.603+28del) c.469+28del c.894+28del (n.894+28del) c.903+28del (n.903+28del) n.518-362del | gnomAD v4 |
3 | g.177047272G>A | CA89088926 | TBL1XR1,TBL1XR1-AS1 | c.864+28C>T (n.864+28C>T) c.603+28C>T (n.603+28C>T) c.469+28C>T c.894+28C>T (n.894+28C>T) c.903+28C>T (n.903+28C>T) n.518-362G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.177047272G>C | CA1056720960 | TBL1XR1,TBL1XR1-AS1 | c.864+28C>G (n.864+28C>G) c.603+28C>G (n.603+28C>G) c.469+28C>G c.894+28C>G (n.894+28C>G) c.903+28C>G (n.903+28C>G) n.518-362G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.177047272G= | CA1422667508 | TBL1XR1,TBL1XR1-AS1 | c.864+28C= (n.864+28C=) c.603+28C= (n.603+28C=) c.469+28C= c.894+28C= (n.894+28C=) c.903+28C= (n.903+28C=) n.518-362G= | |
3 | g.177047272G>T | CA2572712889 | TBL1XR1,TBL1XR1-AS1 | c.864+28C>A (n.864+28C>A) c.603+28C>A (n.603+28C>A) c.469+28C>A c.894+28C>A (n.894+28C>A) c.903+28C>A (n.903+28C>A) n.518-362G>T | gnomAD v4 |
3 | g.177047273C>A | CA2668596709 | TBL1XR1,TBL1XR1-AS1 | c.864+27G>T (n.864+27G>T) c.603+27G>T (n.603+27G>T) c.469+27G>T c.894+27G>T (n.894+27G>T) c.903+27G>T (n.903+27G>T) n.518-361C>A | gnomAD v4 |
3 | g.177047273C>T | CA2668596710 | TBL1XR1,TBL1XR1-AS1 | c.864+27G>A (n.864+27G>A) c.603+27G>A (n.603+27G>A) c.469+27G>A c.894+27G>A (n.894+27G>A) c.903+27G>A (n.903+27G>A) n.518-361C>T | gnomAD v4 |
3 | g.177047274C>T | CA2668596711 | TBL1XR1,TBL1XR1-AS1 | c.864+26G>A (n.864+26G>A) c.603+26G>A (n.603+26G>A) c.469+26G>A c.894+26G>A (n.894+26G>A) c.903+26G>A (n.903+26G>A) n.518-360C>T | gnomAD v4 |
3 | g.177047275T>A | CA2668596712 | TBL1XR1,TBL1XR1-AS1 | c.864+25A>T (n.864+25A>T) c.603+25A>T (n.603+25A>T) c.469+25A>T c.894+25A>T (n.894+25A>T) c.903+25A>T (n.903+25A>T) n.518-359T>A | gnomAD v4 |
3 | g.177047275T>C | CA2668596713 | TBL1XR1,TBL1XR1-AS1 | c.864+25A>G (n.864+25A>G) c.603+25A>G (n.603+25A>G) c.469+25A>G c.894+25A>G (n.894+25A>G) c.903+25A>G (n.903+25A>G) n.518-359T>C | gnomAD v4 |
3 | g.177047276T>A | CA2668596714 | TBL1XR1,TBL1XR1-AS1 | c.864+24A>T (n.864+24A>T) c.603+24A>T (n.603+24A>T) c.469+24A>T c.894+24A>T (n.894+24A>T) c.903+24A>T (n.903+24A>T) n.518-358T>A | gnomAD v4 |
3 | g.177047276T>C | CA2668596715 | TBL1XR1,TBL1XR1-AS1 | c.864+24A>G (n.864+24A>G) c.603+24A>G (n.603+24A>G) c.469+24A>G c.894+24A>G (n.894+24A>G) c.903+24A>G (n.903+24A>G) n.518-358T>C | gnomAD v4 |
3 | g.177047277T>C | CA2668596716 | TBL1XR1,TBL1XR1-AS1 | c.864+23A>G (n.864+23A>G) c.603+23A>G (n.603+23A>G) c.469+23A>G c.894+23A>G (n.894+23A>G) c.903+23A>G (n.903+23A>G) n.518-357T>C | gnomAD v4 |
3 | g.177047278A>T | CA2668596717 | TBL1XR1,TBL1XR1-AS1 | c.864+22T>A (n.864+22T>A) c.603+22T>A (n.603+22T>A) c.469+22T>A c.894+22T>A (n.894+22T>A) c.903+22T>A (n.903+22T>A) n.518-356A>T | gnomAD v4 |
3 | g.177047279C>A | CA2668596718 | TBL1XR1,TBL1XR1-AS1 | c.864+21G>T (n.864+21G>T) c.603+21G>T (n.603+21G>T) c.469+21G>T c.894+21G>T (n.894+21G>T) c.903+21G>T (n.903+21G>T) n.518-355C>A | gnomAD v4 |
3 | g.177047279C= | CA1422667509 | TBL1XR1,TBL1XR1-AS1 | c.864+21G= (n.864+21G=) c.603+21G= (n.603+21G=) c.469+21G= c.894+21G= (n.894+21G=) c.903+21G= (n.903+21G=) n.518-355C= | |
3 | g.177047279C>T | CA89088927 | TBL1XR1,TBL1XR1-AS1 | c.864+21G>A (n.864+21G>A) c.603+21G>A (n.603+21G>A) c.469+21G>A c.894+21G>A (n.894+21G>A) c.903+21G>A (n.903+21G>A) n.518-355C>T | dbSNP gnomAD v4 |
3 | g.177047281G>A | CA2668596719 | TBL1XR1,TBL1XR1-AS1 | c.864+19C>T (n.864+19C>T) c.603+19C>T (n.603+19C>T) c.469+19C>T c.894+19C>T (n.894+19C>T) c.903+19C>T (n.903+19C>T) n.518-353G>A | gnomAD v4 |
3 | g.177047281G>T | CA2668596720 | TBL1XR1,TBL1XR1-AS1 | c.864+19C>A (n.864+19C>A) c.603+19C>A (n.603+19C>A) c.469+19C>A c.894+19C>A (n.894+19C>A) c.903+19C>A (n.903+19C>A) n.518-353G>T | dbSNP gnomAD v4 |
3 | g.177047283A>G | CA2668596721 | TBL1XR1,TBL1XR1-AS1 | c.864+17T>C (n.864+17T>C) c.603+17T>C (n.603+17T>C) c.469+17T>C c.894+17T>C (n.894+17T>C) c.903+17T>C (n.903+17T>C) n.518-351A>G | gnomAD v4 |
3 | g.177047284del | CA2577962583 | TBL1XR1,TBL1XR1-AS1 | c.864+16del (n.864+16del) c.603+16del (n.603+16del) c.469+16del c.894+16del (n.894+16del) c.903+16del (n.903+16del) n.518-350del | gnomAD v4 |
3 | g.177047284C>A | CA2668596722 | TBL1XR1,TBL1XR1-AS1 | c.864+16G>T (n.864+16G>T) c.603+16G>T (n.603+16G>T) c.469+16G>T c.894+16G>T (n.894+16G>T) c.903+16G>T (n.903+16G>T) n.518-350C>A | gnomAD v4 |
3 | g.177047284C>T | CA2577962584 | TBL1XR1,TBL1XR1-AS1 | c.864+16G>A (n.864+16G>A) c.603+16G>A (n.603+16G>A) c.469+16G>A c.894+16G>A (n.894+16G>A) c.903+16G>A (n.903+16G>A) n.518-350C>T | |
3 | g.177047285T>G | CA548242932 | TBL1XR1,TBL1XR1-AS1 | c.864+15A>C (n.864+15A>C) c.603+15A>C (n.603+15A>C) c.469+15A>C c.894+15A>C (n.894+15A>C) c.903+15A>C (n.903+15A>C) n.518-349T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.177047285T= | CA1422667510 | TBL1XR1,TBL1XR1-AS1 | c.864+15A= (n.864+15A=) c.603+15A= (n.603+15A=) c.469+15A= c.894+15A= (n.894+15A=) c.903+15A= (n.903+15A=) n.518-349T= | |
3 | g.177047286T>A | CA2668596723 | TBL1XR1,TBL1XR1-AS1 | c.864+14A>T (n.864+14A>T) c.603+14A>T (n.603+14A>T) c.469+14A>T c.894+14A>T (n.894+14A>T) c.903+14A>T (n.903+14A>T) n.518-348T>A | gnomAD v4 |
3 | g.177047286T>C | CA2668596724 | TBL1XR1,TBL1XR1-AS1 | c.864+14A>G (n.864+14A>G) c.603+14A>G (n.603+14A>G) c.469+14A>G c.894+14A>G (n.894+14A>G) c.903+14A>G (n.903+14A>G) n.518-348T>C | gnomAD v4 |
3 | g.177047288A>T | CA2668596725 | TBL1XR1,TBL1XR1-AS1 | c.864+12T>A (n.864+12T>A) c.603+12T>A (n.603+12T>A) c.469+12T>A c.894+12T>A (n.894+12T>A) c.903+12T>A (n.903+12T>A) n.518-346A>T | gnomAD v4 |
3 | g.177047289T>G | CA548242933 | TBL1XR1,TBL1XR1-AS1 | c.864+11A>C (n.864+11A>C) c.603+11A>C (n.603+11A>C) c.469+11A>C c.894+11A>C (n.894+11A>C) c.903+11A>C (n.903+11A>C) n.518-345T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.177047289T= | CA1422667511 | TBL1XR1,TBL1XR1-AS1 | c.864+11A= (n.864+11A=) c.603+11A= (n.603+11A=) c.469+11A= c.894+11A= (n.894+11A=) c.903+11A= (n.903+11A=) n.518-345T= | |
3 | g.177047290G>A | CA2668596726 | TBL1XR1,TBL1XR1-AS1 | c.864+10C>T (n.864+10C>T) c.603+10C>T (n.603+10C>T) c.469+10C>T c.894+10C>T (n.894+10C>T) c.903+10C>T (n.903+10C>T) n.518-344G>A | gnomAD v4 |
3 | g.177047290G>T | CA2668596727 | TBL1XR1,TBL1XR1-AS1 | c.864+10C>A (n.864+10C>A) c.603+10C>A (n.603+10C>A) c.469+10C>A c.894+10C>A (n.894+10C>A) c.903+10C>A (n.903+10C>A) n.518-344G>T | gnomAD v4 |
3 | g.177047291A>G | CA2577962585 | TBL1XR1,TBL1XR1-AS1 | c.864+9T>C (n.864+9T>C) c.603+9T>C (n.603+9T>C) c.469+9T>C c.894+9T>C (n.894+9T>C) c.903+9T>C (n.903+9T>C) n.518-343A>G | gnomAD v4 |
3 | g.177047291_177047296del | CA2668596728 | TBL1XR1,TBL1XR1-AS1 | c.864+4_864+9del (n.864+4_864+9del) c.603+4_603+9del (n.603+4_603+9del) c.469+4_469+9del c.894+4_894+9del (n.894+4_894+9del) c.903+4_903+9del (n.903+4_903+9del) n.518-343_518-338del | gnomAD v4 |
3 | g.177047292G>A | CA2577962586 | TBL1XR1,TBL1XR1-AS1 | c.864+8C>T (n.864+8C>T) c.603+8C>T (n.603+8C>T) c.469+8C>T c.894+8C>T (n.894+8C>T) c.903+8C>T (n.903+8C>T) n.518-342G>A | gnomAD v4 |
3 | g.177047292G>T | CA2668596729 | TBL1XR1,TBL1XR1-AS1 | c.864+8C>A (n.864+8C>A) c.603+8C>A (n.603+8C>A) c.469+8C>A c.894+8C>A (n.894+8C>A) c.903+8C>A (n.903+8C>A) n.518-342G>T | gnomAD v4 |
3 | g.177047292_177047293delinsGC | CA1422667512 | TBL1XR1,TBL1XR1-AS1 | c.864+7_864+8delinsGC (n.864+7_864+8delinsGC) c.603+7_603+8delinsGC (n.603+7_603+8delinsGC) c.469+7_469+8delinsGC c.894+7_894+8delinsGC (n.894+7_894+8delinsGC) c.903+7_903+8delinsGC (n.903+7_903+8delinsGC) n.518-342_518-341delinsGC | |
3 | g.177047293del | CA2709880 | TBL1XR1,TBL1XR1-AS1 | c.864+7del (n.864+7del) c.603+7del (n.603+7del) c.469+7del c.894+7del (n.894+7del) c.903+7del (n.903+7del) n.518-341del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.177047293C>A | CA2668596730 | TBL1XR1,TBL1XR1-AS1 | c.864+7G>T (n.864+7G>T) c.603+7G>T (n.603+7G>T) c.469+7G>T c.894+7G>T (n.894+7G>T) c.903+7G>T (n.903+7G>T) n.518-341C>A | gnomAD v4 |
3 | g.177047293C= | CA1422667513 | TBL1XR1,TBL1XR1-AS1 | c.864+7G= (n.864+7G=) c.603+7G= (n.603+7G=) c.469+7G= c.894+7G= (n.894+7G=) c.903+7G= (n.903+7G=) n.518-341C= | |
3 | g.177047293C>G | CA903114408 | TBL1XR1,TBL1XR1-AS1 | c.864+7G>C (n.864+7G>C) c.603+7G>C (n.603+7G>C) c.469+7G>C c.894+7G>C (n.894+7G>C) c.903+7G>C (n.903+7G>C) n.518-341C>G | dbSNP |
3 | g.177047296_177047302del | CA645526868 | TBL1XR1,TBL1XR1-AS1 | c.864+1_864+7del c.603+1_603+7del c.469+1_469+7del c.894+1_894+7del c.903+1_903+7del n.518-338_518-332del | COSMIC |
3 | g.177047294T>C | CA548242935 | TBL1XR1,TBL1XR1-AS1 | c.864+6A>G (n.864+6A>G) c.603+6A>G (n.603+6A>G) c.469+6A>G c.894+6A>G (n.894+6A>G) c.903+6A>G (n.903+6A>G) n.518-340T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.177047294T= | CA1422667514 | TBL1XR1,TBL1XR1-AS1 | c.864+6A= (n.864+6A=) c.603+6A= (n.603+6A=) c.469+6A= c.894+6A= (n.894+6A=) c.903+6A= (n.903+6A=) n.518-340T= | |
3 | g.177047297del | CA2668596731 | TBL1XR1,TBL1XR1-AS1 | c.864+6del (n.864+6del) c.603+6del (n.603+6del) c.469+6del c.894+6del (n.894+6del) c.903+6del (n.903+6del) n.518-337del | gnomAD v4 |
3 | g.177047297T>C | CA2668596732 | TBL1XR1,TBL1XR1-AS1 | c.864+3A>G (n.864+3A>G) c.603+3A>G (n.603+3A>G) c.469+3A>G c.894+3A>G (n.894+3A>G) c.903+3A>G (n.903+3A>G) n.518-337T>C | gnomAD v4 |
3 | g.177047298A>C | CA355551973 | TBL1XR1,TBL1XR1-AS1 | c.864+2T>G (n.864+2T>G) c.603+2T>G (n.603+2T>G) c.469+2T>G c.894+2T>G (n.894+2T>G) c.903+2T>G (n.903+2T>G) n.518-336A>C | |
3 | g.177047298A>G | CA355551972 | TBL1XR1,TBL1XR1-AS1 | c.864+2T>C (n.864+2T>C) c.603+2T>C (n.603+2T>C) c.469+2T>C c.894+2T>C (n.894+2T>C) c.903+2T>C (n.903+2T>C) n.518-336A>G | gnomAD v4 |
3 | g.177047298A>T | CA355551971 | TBL1XR1,TBL1XR1-AS1 | c.864+2T>A (n.864+2T>A) c.603+2T>A (n.603+2T>A) c.469+2T>A c.894+2T>A (n.894+2T>A) c.903+2T>A (n.903+2T>A) n.518-336A>T | |
3 | g.177047299C>A | CA355551974 | TBL1XR1,TBL1XR1-AS1 | c.864+1G>T (n.864+1G>T) c.603+1G>T (n.603+1G>T) c.469+1G>T c.894+1G>T (n.894+1G>T) c.903+1G>T (n.903+1G>T) n.518-335C>A | |
3 | g.177047299C>G | CA355551975 | TBL1XR1,TBL1XR1-AS1 | c.864+1G>C (n.864+1G>C) c.603+1G>C (n.603+1G>C) c.469+1G>C c.894+1G>C (n.894+1G>C) c.903+1G>C (n.903+1G>C) n.518-335C>G | |
3 | g.177047299C>T | CA355551976 | TBL1XR1,TBL1XR1-AS1 | c.864+1G>A (n.864+1G>A) c.603+1G>A (n.603+1G>A) c.469+1G>A c.894+1G>A (n.894+1G>A) c.903+1G>A (n.903+1G>A) n.518-335C>T | ClinVar |
3 | g.177047300C>A | CA355551977 | TBL1XR1,TBL1XR1-AS1 | c.864G>T (p.Lys288Asn) c.603G>T (p.Lys201Asn) c.469G>T c.894G>T (p.Lys298Asn) c.903G>T (p.Lys301Asn) n.518-334C>A | gnomAD v4 |
3 | g.177047300C>G | CA355551978 | TBL1XR1,TBL1XR1-AS1 | c.864G>C (p.Lys288Asn) c.603G>C (p.Lys201Asn) c.469G>C c.894G>C (p.Lys298Asn) c.903G>C (p.Lys301Asn) n.518-334C>G | |
3 | g.177047300C>T | CA436985622 | TBL1XR1,TBL1XR1-AS1 | c.864G>A (p.Lys288=) c.603G>A (p.Lys201=) c.469G>A c.894G>A (p.Lys298=) c.903G>A (p.Lys301=) n.518-334C>T | |
3 | g.177047301T>A | CA355551979 | TBL1XR1,TBL1XR1-AS1 | c.863A>T (p.Lys288Met) c.602A>T (p.Lys201Met) c.468A>T c.893A>T (p.Lys298Met) c.902A>T (p.Lys301Met) n.518-333T>A | dbSNP gnomAD v4 |
3 | g.177047301T>C | CA355551980 | TBL1XR1,TBL1XR1-AS1 | c.863A>G (p.Lys288Arg) c.602A>G (p.Lys201Arg) c.468A>G c.893A>G (p.Lys298Arg) c.902A>G (p.Lys301Arg) n.518-333T>C | |
3 | g.177047301T>G | CA355551981 | TBL1XR1,TBL1XR1-AS1 | c.863A>C (p.Lys288Thr) c.602A>C (p.Lys201Thr) c.468A>C c.893A>C (p.Lys298Thr) c.902A>C (p.Lys301Thr) n.518-333T>G | |
3 | g.177047302T>A | CA355551982 | TBL1XR1,TBL1XR1-AS1 | c.862A>T (p.Lys288Ter) c.601A>T (p.Lys201Ter) c.467A>T c.892A>T (p.Lys298Ter) c.901A>T (p.Lys301Ter) n.518-332T>A | |
3 | g.177047302T>C | CA355551983 | TBL1XR1,TBL1XR1-AS1 | c.862A>G (p.Lys288Glu) c.601A>G (p.Lys201Glu) c.467A>G c.892A>G (p.Lys298Glu) c.901A>G (p.Lys301Glu) n.518-332T>C | dbSNP gnomAD v2 |
3 | g.177047302T>G | CA355551984 | TBL1XR1,TBL1XR1-AS1 | c.862A>C (p.Lys288Gln) c.601A>C (p.Lys201Gln) c.467A>C c.892A>C (p.Lys298Gln) c.901A>C (p.Lys301Gln) n.518-332T>G | |
3 | g.177047302T= | CA1422667515 | TBL1XR1,TBL1XR1-AS1 | c.862A= (p.Lys288=) c.601A= (p.Lys201=) c.467A= c.892A= (p.Lys298=) c.901A= (p.Lys301=) n.518-332T= | |
3 | g.177047303G>A | CA436985627 | TBL1XR1,TBL1XR1-AS1 | c.861C>T (p.Asp287=) c.600C>T (p.Asp200=) c.466C>T c.891C>T (p.Asp297=) c.900C>T (p.Asp300=) n.518-331G>A | gnomAD v4 |
3 | g.177047303G>C | CA355551985 | TBL1XR1,TBL1XR1-AS1 | c.861C>G (p.Asp287Glu) c.600C>G (p.Asp200Glu) c.466C>G c.891C>G (p.Asp297Glu) c.900C>G (p.Asp300Glu) n.518-331G>C | |
3 | g.177047303G>T | CA355551986 | TBL1XR1,TBL1XR1-AS1 | c.861C>A (p.Asp287Glu) c.600C>A (p.Asp200Glu) c.466C>A c.891C>A (p.Asp297Glu) c.900C>A (p.Asp300Glu) n.518-331G>T | gnomAD v4 |
3 | g.177047304T>A | CA355551989 | TBL1XR1,TBL1XR1-AS1 | c.860A>T (p.Asp287Val) c.599A>T (p.Asp200Val) c.465A>T c.890A>T (p.Asp297Val) c.899A>T (p.Asp300Val) n.518-330T>A | |
3 | g.177047304T>C | CA355551987 | TBL1XR1,TBL1XR1-AS1 | c.860A>G (p.Asp287Gly) c.599A>G (p.Asp200Gly) c.465A>G c.890A>G (p.Asp297Gly) c.899A>G (p.Asp300Gly) n.518-330T>C | gnomAD v4 |
3 | g.177047304T>G | CA355551988 | TBL1XR1,TBL1XR1-AS1 | c.860A>C (p.Asp287Ala) c.599A>C (p.Asp200Ala) c.465A>C c.890A>C (p.Asp297Ala) c.899A>C (p.Asp300Ala) n.518-330T>G | |
3 | g.177047305C>A | CA355551990 | TBL1XR1,TBL1XR1-AS1 | c.859G>T (p.Asp287Tyr) c.598G>T (p.Asp200Tyr) c.464G>T c.889G>T (p.Asp297Tyr) c.898G>T (p.Asp300Tyr) n.518-329C>A | gnomAD v4 |
3 | g.177047305C>G | CA355551991 | TBL1XR1,TBL1XR1-AS1 | c.859G>C (p.Asp287His) c.598G>C (p.Asp200His) c.464G>C c.889G>C (p.Asp297His) c.898G>C (p.Asp300His) n.518-329C>G | |
3 | g.177047305C>T | CA355551992 | TBL1XR1,TBL1XR1-AS1 | c.859G>A (p.Asp287Asn) c.598G>A (p.Asp200Asn) c.464G>A c.889G>A (p.Asp297Asn) c.898G>A (p.Asp300Asn) n.518-329C>T | |
3 | g.177047306T>A | CA436985630 | TBL1XR1,TBL1XR1-AS1 | c.858A>T (p.Val286=) c.597A>T (p.Val199=) c.463A>T c.888A>T (p.Val296=) c.897A>T (p.Val299=) n.518-328T>A | |
3 | g.177047306T>C | CA436985628 | TBL1XR1,TBL1XR1-AS1 | c.858A>G (p.Val286=) c.597A>G (p.Val199=) c.463A>G c.888A>G (p.Val296=) c.897A>G (p.Val299=) n.518-328T>C | gnomAD v4 |
3 | g.177047306T>G | CA436985629 | TBL1XR1,TBL1XR1-AS1 | c.858A>C (p.Val286=) c.597A>C (p.Val199=) c.463A>C c.888A>C (p.Val296=) c.897A>C (p.Val299=) n.518-328T>G | |
3 | g.177047307A= | CA1422667516 | TBL1XR1,TBL1XR1-AS1 | c.857T= (p.Val286=) c.596T= (p.Val199=) c.462T= c.887T= (p.Val296=) c.896T= (p.Val299=) n.518-327A= | |
3 | g.177047307A>C | CA16617844 | TBL1XR1,TBL1XR1-AS1 | c.857T>G (p.Val286Gly) c.596T>G (p.Val199Gly) c.462T>G c.887T>G (p.Val296Gly) c.896T>G (p.Val299Gly) n.518-327A>C | ClinVar dbSNP |
3 | g.177047307A>G | CA355551993 | TBL1XR1,TBL1XR1-AS1 | c.857T>C (p.Val286Ala) c.596T>C (p.Val199Ala) c.462T>C c.887T>C (p.Val296Ala) c.896T>C (p.Val299Ala) n.518-327A>G | |
3 | g.177047307A>T | CA355551994 | TBL1XR1,TBL1XR1-AS1 | c.857T>A (p.Val286Glu) c.596T>A (p.Val199Glu) c.462T>A c.887T>A (p.Val296Glu) c.896T>A (p.Val299Glu) n.518-327A>T | |
3 | g.177047308C>A | CA355551995 | TBL1XR1,TBL1XR1-AS1 | c.856G>T (p.Val286Leu) c.595G>T (p.Val199Leu) c.461G>T c.886G>T (p.Val296Leu) c.895G>T (p.Val299Leu) n.518-326C>A | |
3 | g.177047308C>G | CA355551996 | TBL1XR1,TBL1XR1-AS1 | c.856G>C (p.Val286Leu) c.595G>C (p.Val199Leu) c.461G>C c.886G>C (p.Val296Leu) c.895G>C (p.Val299Leu) n.518-326C>G | |
3 | g.177047308C>T | CA355551997 | TBL1XR1,TBL1XR1-AS1 | c.856G>A (p.Val286Ile) c.595G>A (p.Val199Ile) c.461G>A c.886G>A (p.Val296Ile) c.895G>A (p.Val299Ile) n.518-326C>T | |
3 | g.177047309T>A | CA436985634 | TBL1XR1,TBL1XR1-AS1 | c.855A>T (p.Gly285=) c.594A>T (p.Gly198=) c.460A>T c.885A>T (p.Gly295=) c.894A>T (p.Gly298=) n.518-325T>A | |
3 | g.177047309T>C | CA436985633 | TBL1XR1,TBL1XR1-AS1 | c.855A>G (p.Gly285=) c.594A>G (p.Gly198=) c.460A>G c.885A>G (p.Gly295=) c.894A>G (p.Gly298=) n.518-325T>C | gnomAD v4 |
3 | g.177047309T>G | CA436985632 | TBL1XR1,TBL1XR1-AS1 | c.855A>C (p.Gly285=) c.594A>C (p.Gly198=) c.460A>C c.885A>C (p.Gly295=) c.894A>C (p.Gly298=) n.518-325T>G | dbSNP gnomAD v4 |
3 | g.177047309T= | CA1422667517 | TBL1XR1,TBL1XR1-AS1 | c.855A= (p.Gly285=) c.594A= (p.Gly198=) c.460A= c.885A= (p.Gly295=) c.894A= (p.Gly298=) n.518-325T= | |
3 | g.177047310C>A | CA355551998 | TBL1XR1,TBL1XR1-AS1 | c.854G>T (p.Gly285Val) c.593G>T (p.Gly198Val) c.459G>T c.884G>T (p.Gly295Val) c.893G>T (p.Gly298Val) n.518-324C>A | gnomAD v4 COSMIC |
3 | g.177047310C>G | CA355551999 | TBL1XR1,TBL1XR1-AS1 | c.854G>C (p.Gly285Ala) c.593G>C (p.Gly198Ala) c.459G>C c.884G>C (p.Gly295Ala) c.893G>C (p.Gly298Ala) n.518-324C>G | |
3 | g.177047310C>T | CA355552000 | TBL1XR1,TBL1XR1-AS1 | c.854G>A (p.Gly285Glu) c.593G>A (p.Gly198Glu) c.459G>A c.884G>A (p.Gly295Glu) c.893G>A (p.Gly298Glu) n.518-324C>T | gnomAD v4 |
3 | g.177047311del | CA2668596733 | TBL1XR1,TBL1XR1-AS1 | c.854del (p.Gly285GlufsTer2) c.593del (p.Gly198GlufsTer2) c.459del c.884del (p.Gly295GlufsTer2) c.893del (p.Gly298GlufsTer2) n.518-323del | gnomAD v4 |
3 | g.177047311C>A | CA355552001 | TBL1XR1,TBL1XR1-AS1 | c.853G>T (p.Gly285Ter) c.592G>T (p.Gly198Ter) c.458G>T c.883G>T (p.Gly295Ter) c.892G>T (p.Gly298Ter) n.518-323C>A | gnomAD v4 |
3 | g.177047311C>G | CA355552003 | TBL1XR1,TBL1XR1-AS1 | c.853G>C (p.Gly285Arg) c.592G>C (p.Gly198Arg) c.458G>C c.883G>C (p.Gly295Arg) c.892G>C (p.Gly298Arg) n.518-323C>G | |
3 | g.177047311C>T | CA355552002 | TBL1XR1,TBL1XR1-AS1 | c.853G>A (p.Gly285Arg) c.592G>A (p.Gly198Arg) c.458G>A c.883G>A (p.Gly295Arg) c.892G>A (p.Gly298Arg) n.518-323C>T | gnomAD v4 |
3 | g.177047312A>C | CA436985635 | TBL1XR1,TBL1XR1-AS1 | c.852T>G (p.Ala284=) c.591T>G (p.Ala197=) c.457T>G c.882T>G (p.Ala294=) c.891T>G (p.Ala297=) n.518-322A>C | |
3 | g.177047312A>G | CA436985637 | TBL1XR1,TBL1XR1-AS1 | c.852T>C (p.Ala284=) c.591T>C (p.Ala197=) c.457T>C c.882T>C (p.Ala294=) c.891T>C (p.Ala297=) n.518-322A>G | gnomAD v4 |
3 | g.177047312A>T | CA436985636 | TBL1XR1,TBL1XR1-AS1 | c.852T>A (p.Ala284=) c.591T>A (p.Ala197=) c.457T>A c.882T>A (p.Ala294=) c.891T>A (p.Ala297=) n.518-322A>T | |
3 | g.177047313G>A | CA355552004 | TBL1XR1,TBL1XR1-AS1 | c.851C>T (p.Ala284Val) c.590C>T (p.Ala197Val) c.456C>T c.881C>T (p.Ala294Val) c.890C>T (p.Ala297Val) n.518-321G>A | gnomAD v4 |
3 | g.177047313G>C | CA355552006 | TBL1XR1,TBL1XR1-AS1 | c.851C>G (p.Ala284Gly) c.590C>G (p.Ala197Gly) c.456C>G c.881C>G (p.Ala294Gly) c.890C>G (p.Ala297Gly) n.518-321G>C | ClinVar dbSNP |
3 | g.177047313G>T | CA355552005 | TBL1XR1,TBL1XR1-AS1 | c.851C>A (p.Ala284Asp) c.590C>A (p.Ala197Asp) c.456C>A c.881C>A (p.Ala294Asp) c.890C>A (p.Ala297Asp) n.518-321G>T | |
3 | g.177047314C>A | CA355552007 | TBL1XR1,TBL1XR1-AS1 | c.850G>T (p.Ala284Ser) c.589G>T (p.Ala197Ser) c.455G>T c.880G>T (p.Ala294Ser) c.889G>T (p.Ala297Ser) n.518-320C>A | gnomAD v4 |
3 | g.177047314C>G | CA355552009 | TBL1XR1,TBL1XR1-AS1 | c.850G>C (p.Ala284Pro) c.589G>C (p.Ala197Pro) c.455G>C c.880G>C (p.Ala294Pro) c.889G>C (p.Ala297Pro) n.518-320C>G | |
3 | g.177047314C>T | CA355552008 | TBL1XR1,TBL1XR1-AS1 | c.850G>A (p.Ala284Thr) c.589G>A (p.Ala197Thr) c.455G>A c.880G>A (p.Ala294Thr) c.889G>A (p.Ala297Thr) n.518-320C>T | gnomAD v4 |
3 | g.177047315A>C | CA355552010 | TBL1XR1,TBL1XR1-AS1 | c.849T>G (p.Ser283Arg) c.588T>G (p.Ser196Arg) c.454T>G c.879T>G (p.Ser293Arg) c.888T>G (p.Ser296Arg) n.518-319A>C | |
3 | g.177047315A>G | CA436985640 | TBL1XR1,TBL1XR1-AS1 | c.849T>C (p.Ser283=) c.588T>C (p.Ser196=) c.454T>C c.879T>C (p.Ser293=) c.888T>C (p.Ser296=) n.518-319A>G | |
3 | g.177047315A>T | CA355552011 | TBL1XR1,TBL1XR1-AS1 | c.849T>A (p.Ser283Arg) c.588T>A (p.Ser196Arg) c.454T>A c.879T>A (p.Ser293Arg) c.888T>A (p.Ser296Arg) n.518-319A>T | |
3 | g.177047316C>A | CA355552012 | TBL1XR1,TBL1XR1-AS1 | c.848G>T (p.Ser283Ile) c.587G>T (p.Ser196Ile) c.453G>T c.878G>T (p.Ser293Ile) c.887G>T (p.Ser296Ile) n.518-318C>A | gnomAD v4 |
3 | g.177047316C>G | CA355552013 | TBL1XR1,TBL1XR1-AS1 | c.848G>C (p.Ser283Thr) c.587G>C (p.Ser196Thr) c.453G>C c.878G>C (p.Ser293Thr) c.887G>C (p.Ser296Thr) n.518-318C>G | |
3 | g.177047316C>T | CA355552014 | TBL1XR1,TBL1XR1-AS1 | c.848G>A (p.Ser283Asn) c.587G>A (p.Ser196Asn) c.453G>A c.878G>A (p.Ser293Asn) c.887G>A (p.Ser296Asn) n.518-318C>T | |
3 | g.177047317T>A | CA355552015 | TBL1XR1,TBL1XR1-AS1 | c.847A>T (p.Ser283Cys) c.586A>T (p.Ser196Cys) c.452A>T c.877A>T (p.Ser293Cys) c.886A>T (p.Ser296Cys) n.518-317T>A | |
3 | g.177047317T>C | CA355552016 | TBL1XR1,TBL1XR1-AS1 | c.847A>G (p.Ser283Gly) c.586A>G (p.Ser196Gly) c.452A>G c.877A>G (p.Ser293Gly) c.886A>G (p.Ser296Gly) n.518-317T>C | |
3 | g.177047317T>G | CA355552017 | TBL1XR1,TBL1XR1-AS1 | c.847A>C (p.Ser283Arg) c.586A>C (p.Ser196Arg) c.452A>C c.877A>C (p.Ser293Arg) c.886A>C (p.Ser296Arg) n.518-317T>G | ClinVar COSMIC |
3 | g.177047318del | CA2668596734 | TBL1XR1,TBL1XR1-AS1 | c.847del (p.Ser283ValfsTer4) c.586del (p.Ser196ValfsTer4) c.452del c.877del (p.Ser293ValfsTer4) c.886del (p.Ser296ValfsTer4) n.518-316del | gnomAD v4 |
3 | g.177047318T>A | CA436985642 | TBL1XR1,TBL1XR1-AS1 | c.846A>T (p.Leu282=) c.585A>T (p.Leu195=) c.451A>T c.876A>T (p.Leu292=) c.885A>T (p.Leu295=) n.518-316T>A | |
3 | g.177047318T>C | CA89088928 | TBL1XR1,TBL1XR1-AS1 | c.846A>G (p.Leu282=) c.585A>G (p.Leu195=) c.451A>G c.876A>G (p.Leu292=) c.885A>G (p.Leu295=) n.518-316T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.177047318T>G | CA436985646 | TBL1XR1,TBL1XR1-AS1 | c.846A>C (p.Leu282=) c.585A>C (p.Leu195=) c.451A>C c.876A>C (p.Leu292=) c.885A>C (p.Leu295=) n.518-316T>G | gnomAD v4 |
3 | g.177047318T= | CA1422667518 | TBL1XR1,TBL1XR1-AS1 | c.846A= (p.Leu282=) c.585A= (p.Leu195=) c.451A= c.876A= (p.Leu292=) c.885A= (p.Leu295=) n.518-316T= | |
3 | g.177047319A= | CA1422667519 | TBL1XR1,TBL1XR1-AS1 | c.845T= (p.Leu282=) c.584T= (p.Leu195=) c.450T= c.875T= (p.Leu292=) c.884T= (p.Leu295=) n.518-315A= | |
3 | g.177047319A>C | CA355552018 | TBL1XR1,TBL1XR1-AS1 | c.845T>G (p.Leu282Arg) c.584T>G (p.Leu195Arg) c.450T>G c.875T>G (p.Leu292Arg) c.884T>G (p.Leu295Arg) n.518-315A>C | |
3 | g.177047319A>G | CA355552019 | TBL1XR1,TBL1XR1-AS1 | c.845T>C (p.Leu282Pro) c.584T>C (p.Leu195Pro) c.450T>C c.875T>C (p.Leu292Pro) c.884T>C (p.Leu295Pro) n.518-315A>G | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.177047319A>T | CA355552020 | TBL1XR1,TBL1XR1-AS1 | c.845T>A (p.Leu282Gln) c.584T>A (p.Leu195Gln) c.450T>A c.875T>A (p.Leu292Gln) c.884T>A (p.Leu295Gln) n.518-315A>T | |
3 | g.177047320G>A | CA436985648 | TBL1XR1,TBL1XR1-AS1 | c.844C>T (p.Leu282=) c.583C>T (p.Leu195=) c.449C>T c.874C>T (p.Leu292=) c.883C>T (p.Leu295=) n.518-314G>A | |
3 | g.177047320G>C | CA355552021 | TBL1XR1,TBL1XR1-AS1 | c.844C>G (p.Leu282Val) c.583C>G (p.Leu195Val) c.449C>G c.874C>G (p.Leu292Val) c.883C>G (p.Leu295Val) n.518-314G>C | gnomAD v4 |
3 | g.177047320G>T | CA355552022 | TBL1XR1,TBL1XR1-AS1 | c.844C>A (p.Leu282Ile) c.583C>A (p.Leu195Ile) c.449C>A c.874C>A (p.Leu292Ile) c.883C>A (p.Leu295Ile) n.518-314G>T | gnomAD v4 |
3 | g.177047321G>A | CA89088929 | TBL1XR1,TBL1XR1-AS1 | c.843C>T (p.Ile281=) c.582C>T (p.Ile194=) c.448C>T c.873C>T (p.Ile291=) c.882C>T (p.Ile294=) n.518-313G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.177047321G>C | CA355552023 | TBL1XR1,TBL1XR1-AS1 | c.843C>G (p.Ile281Met) c.582C>G (p.Ile194Met) c.448C>G c.873C>G (p.Ile291Met) c.882C>G (p.Ile294Met) n.518-313G>C | |
3 | g.177047321G= | CA1422667520 | TBL1XR1,TBL1XR1-AS1 | c.843C= (p.Ile281=) c.582C= (p.Ile194=) c.448C= c.873C= (p.Ile291=) c.882C= (p.Ile294=) n.518-313G= | |
3 | g.177047321G>T | CA436985651 | TBL1XR1,TBL1XR1-AS1 | c.843C>A (p.Ile281=) c.582C>A (p.Ile194=) c.448C>A c.873C>A (p.Ile291=) c.882C>A (p.Ile294=) n.518-313G>T | gnomAD v4 |
3 | g.177047322A>C | CA355552024 | TBL1XR1,TBL1XR1-AS1 | c.842T>G (p.Ile281Ser) c.581T>G (p.Ile194Ser) c.447T>G c.872T>G (p.Ile291Ser) c.881T>G (p.Ile294Ser) n.518-312A>C | |
3 | g.177047322A>G | CA355552025 | TBL1XR1,TBL1XR1-AS1 | c.842T>C (p.Ile281Thr) c.581T>C (p.Ile194Thr) c.447T>C c.872T>C (p.Ile291Thr) c.881T>C (p.Ile294Thr) n.518-312A>G | |
3 | g.177047322A>T | CA355552026 | TBL1XR1,TBL1XR1-AS1 | c.842T>A (p.Ile281Asn) c.581T>A (p.Ile194Asn) c.447T>A c.872T>A (p.Ile291Asn) c.881T>A (p.Ile294Asn) n.518-312A>T | gnomAD v4 |
3 | g.177047323T>A | CA355552027 | TBL1XR1,TBL1XR1-AS1 | c.841A>T (p.Ile281Phe) c.580A>T (p.Ile194Phe) c.446A>T c.871A>T (p.Ile291Phe) c.880A>T (p.Ile294Phe) n.518-311T>A | |
3 | g.177047323T>C | CA355552028 | TBL1XR1,TBL1XR1-AS1 | c.841A>G (p.Ile281Val) c.580A>G (p.Ile194Val) c.446A>G c.871A>G (p.Ile291Val) c.880A>G (p.Ile294Val) n.518-311T>C | |
3 | g.177047323T>G | CA355552029 | TBL1XR1,TBL1XR1-AS1 | c.841A>C (p.Ile281Leu) c.580A>C (p.Ile194Leu) c.446A>C c.871A>C (p.Ile291Leu) c.880A>C (p.Ile294Leu) n.518-311T>G | |
3 | g.177047324G>A | CA436985653 | TBL1XR1,TBL1XR1-AS1 | c.840C>T (p.Phe280=) c.579C>T (p.Phe193=) c.445C>T c.870C>T (p.Phe290=) c.879C>T (p.Phe293=) n.518-310G>A | ClinVar dbSNP COSMIC |
3 | g.177047324G>C | CA355552030 | TBL1XR1,TBL1XR1-AS1 | c.840C>G (p.Phe280Leu) c.579C>G (p.Phe193Leu) c.445C>G c.870C>G (p.Phe290Leu) c.879C>G (p.Phe293Leu) n.518-310G>C | |
3 | g.177047324G= | CA1422667521 | TBL1XR1,TBL1XR1-AS1 | c.840C= (p.Phe280=) c.579C= (p.Phe193=) c.445C= c.870C= (p.Phe290=) c.879C= (p.Phe293=) n.518-310G= | |
3 | g.177047324G>T | CA355552031 | TBL1XR1,TBL1XR1-AS1 | c.840C>A (p.Phe280Leu) c.579C>A (p.Phe193Leu) c.445C>A c.870C>A (p.Phe290Leu) c.879C>A (p.Phe293Leu) n.518-310G>T | gnomAD v4 |
3 | g.177047325A>C | CA355552033 | TBL1XR1,TBL1XR1-AS1 | c.839T>G (p.Phe280Cys) c.578T>G (p.Phe193Cys) c.444T>G c.869T>G (p.Phe290Cys) c.878T>G (p.Phe293Cys) n.518-309A>C | |
3 | g.177047325A>G | CA355552034 | TBL1XR1,TBL1XR1-AS1 | c.839T>C (p.Phe280Ser) c.578T>C (p.Phe193Ser) c.444T>C c.869T>C (p.Phe290Ser) c.878T>C (p.Phe293Ser) n.518-309A>G | gnomAD v4 |
3 | g.177047325A>T | CA355552032 | TBL1XR1,TBL1XR1-AS1 | c.839T>A (p.Phe280Tyr) c.578T>A (p.Phe193Tyr) c.444T>A c.869T>A (p.Phe290Tyr) c.878T>A (p.Phe293Tyr) n.518-309A>T | gnomAD v4 |
3 | g.177047326A>C | CA355552035 | TBL1XR1,TBL1XR1-AS1 | c.838T>G (p.Phe280Val) c.577T>G (p.Phe193Val) c.443T>G c.868T>G (p.Phe290Val) c.877T>G (p.Phe293Val) n.518-308A>C | |
3 | g.177047326A>G | CA355552036 | TBL1XR1,TBL1XR1-AS1 | c.838T>C (p.Phe280Leu) c.577T>C (p.Phe193Leu) c.443T>C c.868T>C (p.Phe290Leu) c.877T>C (p.Phe293Leu) n.518-308A>G | gnomAD v4 |
3 | g.177047326A>T | CA355552037 | TBL1XR1,TBL1XR1-AS1 | c.838T>A (p.Phe280Ile) c.577T>A (p.Phe193Ile) c.443T>A c.868T>A (p.Phe290Ile) c.877T>A (p.Phe293Ile) n.518-308A>T | |
3 | g.177047327A>C | CA355552038 | TBL1XR1,TBL1XR1-AS1 | c.837T>G (p.Asn279Lys) c.576T>G (p.Asn192Lys) c.442T>G c.867T>G (p.Asn289Lys) c.876T>G (p.Asn292Lys) n.518-307A>C | |
3 | g.177047327A>G | CA436985657 | TBL1XR1,TBL1XR1-AS1 | c.837T>C (p.Asn279=) c.576T>C (p.Asn192=) c.442T>C c.867T>C (p.Asn289=) c.876T>C (p.Asn292=) n.518-307A>G | gnomAD v4 |
3 | g.177047327A>T | CA355552039 | TBL1XR1,TBL1XR1-AS1 | c.837T>A (p.Asn279Lys) c.576T>A (p.Asn192Lys) c.442T>A c.867T>A (p.Asn289Lys) c.876T>A (p.Asn292Lys) n.518-307A>T | gnomAD v4 |
3 | g.177047328T>A | CA355552040 | TBL1XR1,TBL1XR1-AS1 | c.836A>T (p.Asn279Ile) c.575A>T (p.Asn192Ile) c.441A>T c.866A>T (p.Asn289Ile) c.875A>T (p.Asn292Ile) n.518-306T>A | gnomAD v4 |
3 | g.177047328T>C | CA355552041 | TBL1XR1,TBL1XR1-AS1 | c.836A>G (p.Asn279Ser) c.575A>G (p.Asn192Ser) c.441A>G c.866A>G (p.Asn289Ser) c.875A>G (p.Asn292Ser) n.518-306T>C | |
3 | g.177047328T>G | CA355552042 | TBL1XR1,TBL1XR1-AS1 | c.836A>C (p.Asn279Thr) c.575A>C (p.Asn192Thr) c.441A>C c.866A>C (p.Asn289Thr) c.875A>C (p.Asn292Thr) n.518-306T>G | |
3 | g.177047329T>A | CA355552043 | TBL1XR1,TBL1XR1-AS1 | c.835A>T (p.Asn279Tyr) c.574A>T (p.Asn192Tyr) c.440A>T c.865A>T (p.Asn289Tyr) c.874A>T (p.Asn292Tyr) n.518-305T>A | |
3 | g.177047329T>C | CA355552044 | TBL1XR1,TBL1XR1-AS1 | c.835A>G (p.Asn279Asp) c.574A>G (p.Asn192Asp) c.440A>G c.865A>G (p.Asn289Asp) c.874A>G (p.Asn292Asp) n.518-305T>C | gnomAD v4 |
3 | g.177047329T>G | CA355552045 | TBL1XR1,TBL1XR1-AS1 | c.835A>C (p.Asn279His) c.574A>C (p.Asn192His) c.440A>C c.865A>C (p.Asn289His) c.874A>C (p.Asn292His) n.518-305T>G | |
3 | g.177047330T>A | CA436985659 | TBL1XR1,TBL1XR1-AS1 | c.834A>T (p.Gly278=) c.573A>T (p.Gly191=) c.439A>T c.864A>T (p.Gly288=) c.873A>T (p.Gly291=) n.518-304T>A | |
3 | g.177047330T>C | CA436985660 | TBL1XR1,TBL1XR1-AS1 | c.834A>G (p.Gly278=) c.573A>G (p.Gly191=) c.439A>G c.864A>G (p.Gly288=) c.873A>G (p.Gly291=) n.518-304T>C | |
3 | g.177047330T>G | CA436985661 | TBL1XR1,TBL1XR1-AS1 | c.834A>C (p.Gly278=) c.573A>C (p.Gly191=) c.439A>C c.864A>C (p.Gly288=) c.873A>C (p.Gly291=) n.518-304T>G | |
3 | g.177047331C>A | CA355552048 | TBL1XR1,TBL1XR1-AS1 | c.833G>T (p.Gly278Val) c.572G>T (p.Gly191Val) c.438G>T c.863G>T (p.Gly288Val) c.872G>T (p.Gly291Val) n.518-303C>A | gnomAD v4 |
3 | g.177047331C>G | CA355552047 | TBL1XR1,TBL1XR1-AS1 | c.833G>C (p.Gly278Ala) c.572G>C (p.Gly191Ala) c.438G>C c.863G>C (p.Gly288Ala) c.872G>C (p.Gly291Ala) n.518-303C>G | |
3 | g.177047331C>T | CA355552046 | TBL1XR1,TBL1XR1-AS1 | c.833G>A (p.Gly278Glu) c.572G>A (p.Gly191Glu) c.438G>A c.863G>A (p.Gly288Glu) c.872G>A (p.Gly291Glu) n.518-303C>T | |
3 | g.177047332C>A | CA355552049 | TBL1XR1,TBL1XR1-AS1 | c.832G>T (p.Gly278Ter) c.571G>T (p.Gly191Ter) c.437G>T c.862G>T (p.Gly288Ter) c.871G>T (p.Gly291Ter) n.518-302C>A | gnomAD v4 |
3 | g.177047332C>G | CA355552050 | TBL1XR1,TBL1XR1-AS1 | c.832G>C (p.Gly278Arg) c.571G>C (p.Gly191Arg) c.437G>C c.862G>C (p.Gly288Arg) c.871G>C (p.Gly291Arg) n.518-302C>G | |
3 | g.177047332C>T | CA355552051 | TBL1XR1,TBL1XR1-AS1 | c.832G>A (p.Gly278Arg) c.571G>A (p.Gly191Arg) c.437G>A c.862G>A (p.Gly288Arg) c.871G>A (p.Gly291Arg) n.518-302C>T | COSMIC COSMIC |
3 | g.177047333T>A | CA355552052 | TBL1XR1,TBL1XR1-AS1 | c.831A>T (p.Lys277Asn) c.570A>T (p.Lys190Asn) c.436A>T c.861A>T (p.Lys287Asn) c.870A>T (p.Lys290Asn) n.518-301T>A | |
3 | g.177047333T>C | CA436985664 | TBL1XR1,TBL1XR1-AS1 | c.831A>G (p.Lys277=) c.570A>G (p.Lys190=) c.436A>G c.861A>G (p.Lys287=) c.870A>G (p.Lys290=) n.518-301T>C | dbSNP gnomAD v4 |
3 | g.177047333T>G | CA355552053 | TBL1XR1,TBL1XR1-AS1 | c.831A>C (p.Lys277Asn) c.570A>C (p.Lys190Asn) c.436A>C c.861A>C (p.Lys287Asn) c.870A>C (p.Lys290Asn) n.518-301T>G | |
3 | g.177047333T= | CA1422667522 | TBL1XR1,TBL1XR1-AS1 | c.831A= (p.Lys277=) c.570A= (p.Lys190=) c.436A= c.861A= (p.Lys287=) c.870A= (p.Lys290=) n.518-301T= | |
3 | g.177047334_177047335del | CA2739278492 | TBL1XR1,TBL1XR1-AS1 | c.830_831del (p.Lys277ArgfsTer22) c.569_570del (p.Lys190ArgfsTer22) c.435_436del c.860_861del (p.Lys287ArgfsTer22) c.869_870del (p.Lys290ArgfsTer22) n.518-300_518-299del | ClinVar |
3 | g.177047334T>A | CA355552054 | TBL1XR1,TBL1XR1-AS1 | c.830A>T (p.Lys277Ile) c.569A>T (p.Lys190Ile) c.435A>T c.860A>T (p.Lys287Ile) c.869A>T (p.Lys290Ile) n.518-300T>A | |
3 | g.177047334T>C | CA355552055 | TBL1XR1,TBL1XR1-AS1 | c.830A>G (p.Lys277Arg) c.569A>G (p.Lys190Arg) c.435A>G c.860A>G (p.Lys287Arg) c.869A>G (p.Lys290Arg) n.518-300T>C | gnomAD v4 |
3 | g.177047334T>G | CA355552056 | TBL1XR1,TBL1XR1-AS1 | c.830A>C (p.Lys277Thr) c.569A>C (p.Lys190Thr) c.435A>C c.860A>C (p.Lys287Thr) c.869A>C (p.Lys290Thr) n.518-300T>G | |
3 | g.177047335T>A | CA355552057 | TBL1XR1,TBL1XR1-AS1 | c.829A>T (p.Lys277Ter) c.568A>T (p.Lys190Ter) c.434A>T c.859A>T (p.Lys287Ter) c.868A>T (p.Lys290Ter) n.518-299T>A | |
3 | g.177047335T>C | CA355552058 | TBL1XR1,TBL1XR1-AS1 | c.829A>G (p.Lys277Glu) c.568A>G (p.Lys190Glu) c.434A>G c.859A>G (p.Lys287Glu) c.868A>G (p.Lys290Glu) n.518-299T>C | gnomAD v4 |
3 | g.177047335T>G | CA355552059 | TBL1XR1,TBL1XR1-AS1 | c.829A>C (p.Lys277Gln) c.568A>C (p.Lys190Gln) c.434A>C c.859A>C (p.Lys287Gln) c.868A>C (p.Lys290Gln) n.518-299T>G | |
3 | g.177047336C>A | CA355552060 | TBL1XR1,TBL1XR1-AS1 | c.828G>T (p.Lys276Asn) c.567G>T (p.Lys189Asn) c.433G>T c.858G>T (p.Lys286Asn) c.867G>T (p.Lys289Asn) n.518-298C>A | gnomAD v4 |
3 | g.177047336C>G | CA355552061 | TBL1XR1,TBL1XR1-AS1 | c.828G>C (p.Lys276Asn) c.567G>C (p.Lys189Asn) c.433G>C c.858G>C (p.Lys286Asn) c.867G>C (p.Lys289Asn) n.518-298C>G | |
3 | g.177047336C>T | CA436985671 | TBL1XR1,TBL1XR1-AS1 | c.828G>A (p.Lys276=) c.567G>A (p.Lys189=) c.433G>A c.858G>A (p.Lys286=) c.867G>A (p.Lys289=) n.518-298C>T | |
3 | g.177047337T>A | CA355552063 | TBL1XR1,TBL1XR1-AS1 | c.827A>T (p.Lys276Met) c.566A>T (p.Lys189Met) c.432A>T c.857A>T (p.Lys286Met) c.866A>T (p.Lys289Met) n.518-297T>A | |
3 | g.177047337T>C | CA355552064 | TBL1XR1,TBL1XR1-AS1 | c.827A>G (p.Lys276Arg) c.566A>G (p.Lys189Arg) c.432A>G c.857A>G (p.Lys286Arg) c.866A>G (p.Lys289Arg) n.518-297T>C | ClinVar |
3 | g.177047337T>G | CA355552062 | TBL1XR1,TBL1XR1-AS1 | c.827A>C (p.Lys276Thr) c.566A>C (p.Lys189Thr) c.432A>C c.857A>C (p.Lys286Thr) c.866A>C (p.Lys289Thr) n.518-297T>G | |
3 | g.177047338T>A | CA355552065 | TBL1XR1,TBL1XR1-AS1 | c.826A>T (p.Lys276Ter) c.565A>T (p.Lys189Ter) c.431A>T c.856A>T (p.Lys286Ter) c.865A>T (p.Lys289Ter) n.518-296T>A | gnomAD v4 |
3 | g.177047338T>C | CA355552066 | TBL1XR1,TBL1XR1-AS1 | c.826A>G (p.Lys276Glu) c.565A>G (p.Lys189Glu) c.431A>G c.856A>G (p.Lys286Glu) c.865A>G (p.Lys289Glu) n.518-296T>C | |
3 | g.177047338T>G | CA355552067 | TBL1XR1,TBL1XR1-AS1 | c.826A>C (p.Lys276Gln) c.565A>C (p.Lys189Gln) c.431A>C c.856A>C (p.Lys286Gln) c.865A>C (p.Lys289Gln) n.518-296T>G | |
3 | g.177047339A>C | CA355552068 | TBL1XR1,TBL1XR1-AS1 | c.825T>G (p.Asn275Lys) c.564T>G (p.Asn188Lys) c.430T>G c.855T>G (p.Asn285Lys) c.864T>G (p.Asn288Lys) n.518-295A>C | |
3 | g.177047339A>G | CA436985673 | TBL1XR1,TBL1XR1-AS1 | c.825T>C (p.Asn275=) c.564T>C (p.Asn188=) c.430T>C c.855T>C (p.Asn285=) c.864T>C (p.Asn288=) n.518-295A>G | |
3 | g.177047339A>T | CA355552069 | TBL1XR1,TBL1XR1-AS1 | c.825T>A (p.Asn275Lys) c.564T>A (p.Asn188Lys) c.430T>A c.855T>A (p.Asn285Lys) c.864T>A (p.Asn288Lys) n.518-295A>T | gnomAD v4 |
3 | g.177047340T>A | CA355552072 | TBL1XR1,TBL1XR1-AS1 | c.824A>T (p.Asn275Ile) c.563A>T (p.Asn188Ile) c.429A>T c.854A>T (p.Asn285Ile) c.863A>T (p.Asn288Ile) n.518-294T>A | |
3 | g.177047340T>C | CA355552071 | TBL1XR1,TBL1XR1-AS1 | c.824A>G (p.Asn275Ser) c.563A>G (p.Asn188Ser) c.429A>G c.854A>G (p.Asn285Ser) c.863A>G (p.Asn288Ser) n.518-294T>C | gnomAD v4 |
3 | g.177047340T>G | CA355552070 | TBL1XR1,TBL1XR1-AS1 | c.824A>C (p.Asn275Thr) c.563A>C (p.Asn188Thr) c.429A>C c.854A>C (p.Asn285Thr) c.863A>C (p.Asn288Thr) n.518-294T>G | |
3 | g.177047341T>A | CA355552073 | TBL1XR1,TBL1XR1-AS1 | c.823A>T (p.Asn275Tyr) c.562A>T (p.Asn188Tyr) c.428A>T c.853A>T (p.Asn285Tyr) c.862A>T (p.Asn288Tyr) n.518-293T>A | |
3 | g.177047341T>C | CA355552074 | TBL1XR1,TBL1XR1-AS1 | c.823A>G (p.Asn275Asp) c.562A>G (p.Asn188Asp) c.428A>G c.853A>G (p.Asn285Asp) c.862A>G (p.Asn288Asp) n.518-293T>C | gnomAD v4 |
3 | g.177047341T>G | CA355552075 | TBL1XR1,TBL1XR1-AS1 | c.823A>C (p.Asn275His) c.562A>C (p.Asn188His) c.428A>C c.853A>C (p.Asn285His) c.862A>C (p.Asn288His) n.518-293T>G | |
3 | g.177047342C>A | CA355552076 | TBL1XR1,TBL1XR1-AS1 | c.822G>T (p.Trp274Cys) c.561G>T (p.Trp187Cys) c.427G>T c.852G>T (p.Trp284Cys) c.861G>T (p.Trp287Cys) n.518-292C>A | gnomAD v4 |
3 | g.177047342C>G | CA355552077 | TBL1XR1,TBL1XR1-AS1 | c.822G>C (p.Trp274Cys) c.561G>C (p.Trp187Cys) c.427G>C c.852G>C (p.Trp284Cys) c.861G>C (p.Trp287Cys) n.518-292C>G | |
3 | g.177047342C>T | CA355552078 | TBL1XR1,TBL1XR1-AS1 | c.822G>A (p.Trp274Ter) c.561G>A (p.Trp187Ter) c.427G>A c.852G>A (p.Trp284Ter) c.861G>A (p.Trp287Ter) n.518-292C>T | gnomAD v4 |
3 | g.177047343C>A | CA355552081 | TBL1XR1,TBL1XR1-AS1 | c.821G>T (p.Trp274Leu) c.560G>T (p.Trp187Leu) c.426G>T c.851G>T (p.Trp284Leu) c.860G>T (p.Trp287Leu) n.518-291C>A | gnomAD v4 |
3 | g.177047343C>G | CA355552079 | TBL1XR1,TBL1XR1-AS1 | c.821G>C (p.Trp274Ser) c.560G>C (p.Trp187Ser) c.426G>C c.851G>C (p.Trp284Ser) c.860G>C (p.Trp287Ser) n.518-291C>G | |
3 | g.177047343C>T | CA355552080 | TBL1XR1,TBL1XR1-AS1 | c.821G>A (p.Trp274Ter) c.560G>A (p.Trp187Ter) c.426G>A c.851G>A (p.Trp284Ter) c.860G>A (p.Trp287Ter) n.518-291C>T | |
3 | g.177047344A>C | CA355552082 | TBL1XR1,TBL1XR1-AS1 | c.820T>G (p.Trp274Gly) c.559T>G (p.Trp187Gly) c.425T>G c.850T>G (p.Trp284Gly) c.859T>G (p.Trp287Gly) n.518-290A>C | |
3 | g.177047344A>G | CA355552083 | TBL1XR1,TBL1XR1-AS1 | c.820T>C (p.Trp274Arg) c.559T>C (p.Trp187Arg) c.425T>C c.850T>C (p.Trp284Arg) c.859T>C (p.Trp287Arg) n.518-290A>G | gnomAD v4 |
3 | g.177047344A>T | CA355552084 | TBL1XR1,TBL1XR1-AS1 | c.820T>A (p.Trp274Arg) c.559T>A (p.Trp187Arg) c.425T>A c.850T>A (p.Trp284Arg) c.859T>A (p.Trp287Arg) n.518-290A>T | |
3 | g.177047345T>A | CA355552085 | TBL1XR1,TBL1XR1-AS1 | c.819A>T (p.Lys273Asn) c.558A>T (p.Lys186Asn) c.424A>T c.849A>T (p.Lys283Asn) c.858A>T (p.Lys286Asn) n.518-289T>A | |
3 | g.177047345T>C | CA89088930 | TBL1XR1,TBL1XR1-AS1 | c.819A>G (p.Lys273=) c.558A>G (p.Lys186=) c.424A>G c.849A>G (p.Lys283=) c.858A>G (p.Lys286=) n.518-289T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.177047345T>G | CA355552086 | TBL1XR1,TBL1XR1-AS1 | c.819A>C (p.Lys273Asn) c.558A>C (p.Lys186Asn) c.424A>C c.849A>C (p.Lys283Asn) c.858A>C (p.Lys286Asn) n.518-289T>G | |
3 | g.177047345T= | CA1422667523 | TBL1XR1,TBL1XR1-AS1 | c.819A= (p.Lys273=) c.558A= (p.Lys186=) c.424A= c.849A= (p.Lys283=) c.858A= (p.Lys286=) n.518-289T= | |
3 | g.177047348del | CA2668596735 | TBL1XR1,TBL1XR1-AS1 | c.819del (p.Lys273AsnfsTer10) c.558del (p.Lys186AsnfsTer10) c.424del c.849del (p.Lys283AsnfsTer10) c.858del (p.Lys286AsnfsTer10) n.518-286del | gnomAD v4 |
3 | g.177047346T>A | CA355552087 | TBL1XR1,TBL1XR1-AS1 | c.818A>T (p.Lys273Ile) c.557A>T (p.Lys186Ile) c.423A>T c.848A>T (p.Lys283Ile) c.857A>T (p.Lys286Ile) n.518-288T>A | |
3 | g.177047346T>C | CA355552088 | TBL1XR1,TBL1XR1-AS1 | c.818A>G (p.Lys273Arg) c.557A>G (p.Lys186Arg) c.423A>G c.848A>G (p.Lys283Arg) c.857A>G (p.Lys286Arg) n.518-288T>C | ClinVar |
3 | g.177047346T>G | CA355552089 | TBL1XR1,TBL1XR1-AS1 | c.818A>C (p.Lys273Thr) c.557A>C (p.Lys186Thr) c.423A>C c.848A>C (p.Lys283Thr) c.857A>C (p.Lys286Thr) n.518-288T>G | |
3 | g.177047347T>A | CA355552090 | TBL1XR1,TBL1XR1-AS1 | c.817A>T (p.Lys273Ter) c.556A>T (p.Lys186Ter) c.422A>T c.847A>T (p.Lys283Ter) c.856A>T (p.Lys286Ter) n.518-287T>A | |
3 | g.177047347T>C | CA355552091 | TBL1XR1,TBL1XR1-AS1 | c.817A>G (p.Lys273Glu) c.556A>G (p.Lys186Glu) c.422A>G c.847A>G (p.Lys283Glu) c.856A>G (p.Lys286Glu) n.518-287T>C | |
3 | g.177047347T>G | CA355552092 | TBL1XR1,TBL1XR1-AS1 | c.817A>C (p.Lys273Gln) c.556A>C (p.Lys186Gln) c.422A>C c.847A>C (p.Lys283Gln) c.856A>C (p.Lys286Gln) n.518-287T>G | |
3 | g.177047348T>A | CA355552093 | TBL1XR1,TBL1XR1-AS1 | c.816A>T (p.Leu272Phe) c.555A>T (p.Leu185Phe) c.421A>T c.846A>T (p.Leu282Phe) c.855A>T (p.Leu285Phe) n.518-286T>A | |
3 | g.177047348T>C | CA436985679 | TBL1XR1,TBL1XR1-AS1 | c.816A>G (p.Leu272=) c.555A>G (p.Leu185=) c.421A>G c.846A>G (p.Leu282=) c.855A>G (p.Leu285=) n.518-286T>C | |
3 | g.177047348T>G | CA355552094 | TBL1XR1,TBL1XR1-AS1 | c.816A>C (p.Leu272Phe) c.555A>C (p.Leu185Phe) c.421A>C c.846A>C (p.Leu282Phe) c.855A>C (p.Leu285Phe) n.518-286T>G | |
3 | g.177047349A>C | CA355552095 | TBL1XR1,TBL1XR1-AS1 | c.815T>G (p.Leu272Ter) c.554T>G (p.Leu185Ter) c.420T>G c.845T>G (p.Leu282Ter) c.854T>G (p.Leu285Ter) n.518-285A>C | |
3 | g.177047349A>G | CA355552097 | TBL1XR1,TBL1XR1-AS1 | c.815T>C (p.Leu272Ser) c.554T>C (p.Leu185Ser) c.420T>C c.845T>C (p.Leu282Ser) c.854T>C (p.Leu285Ser) n.518-285A>G | |
3 | g.177047349A>T | CA355552096 | TBL1XR1,TBL1XR1-AS1 | c.815T>A (p.Leu272Ter) c.554T>A (p.Leu185Ter) c.420T>A c.845T>A (p.Leu282Ter) c.854T>A (p.Leu285Ter) n.518-285A>T | |
3 | g.177047350A>C | CA355552098 | TBL1XR1,TBL1XR1-AS1 | c.814T>G (p.Leu272Val) c.553T>G (p.Leu185Val) c.419T>G c.844T>G (p.Leu282Val) c.853T>G (p.Leu285Val) n.518-284A>C | |
3 | g.177047350A>G | CA436985681 | TBL1XR1,TBL1XR1-AS1 | c.814T>C (p.Leu272=) c.553T>C (p.Leu185=) c.419T>C c.844T>C (p.Leu282=) c.853T>C (p.Leu285=) n.518-284A>G | |
3 | g.177047350A>T | CA355552099 | TBL1XR1,TBL1XR1-AS1 | c.814T>A (p.Leu272Ile) c.553T>A (p.Leu185Ile) c.419T>A c.844T>A (p.Leu282Ile) c.853T>A (p.Leu285Ile) n.518-284A>T | gnomAD v4 |
3 | g.177047351T>A | CA436985683 | TBL1XR1,TBL1XR1-AS1 | c.813A>T (p.Ala271=) c.552A>T (p.Ala184=) c.418A>T c.843A>T (p.Ala281=) c.852A>T (p.Ala284=) n.518-283T>A | gnomAD v4 |
3 | g.177047351T>C | CA2709881 | TBL1XR1,TBL1XR1-AS1 | c.813A>G (p.Ala271=) c.552A>G (p.Ala184=) c.418A>G c.843A>G (p.Ala281=) c.852A>G (p.Ala284=) n.518-283T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.177047351T>G | CA436985684 | TBL1XR1,TBL1XR1-AS1 | c.813A>C (p.Ala271=) c.552A>C (p.Ala184=) c.418A>C c.843A>C (p.Ala281=) c.852A>C (p.Ala284=) n.518-283T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.177047351T= | CA1422667524 | TBL1XR1,TBL1XR1-AS1 | c.813A= (p.Ala271=) c.552A= (p.Ala184=) c.418A= c.843A= (p.Ala281=) c.852A= (p.Ala284=) n.518-283T= | |
3 | g.177047352G>A | CA355552100 | TBL1XR1,TBL1XR1-AS1 | c.812C>T (p.Ala271Val) c.551C>T (p.Ala184Val) c.417C>T c.842C>T (p.Ala281Val) c.851C>T (p.Ala284Val) n.518-282G>A | |
3 | g.177047352G>C | CA355552101 | TBL1XR1,TBL1XR1-AS1 | c.812C>G (p.Ala271Gly) c.551C>G (p.Ala184Gly) c.417C>G c.842C>G (p.Ala281Gly) c.851C>G (p.Ala284Gly) n.518-282G>C | |
3 | g.177047352G>T | CA355552102 | TBL1XR1,TBL1XR1-AS1 | c.812C>A (p.Ala271Glu) c.551C>A (p.Ala184Glu) c.417C>A c.842C>A (p.Ala281Glu) c.851C>A (p.Ala284Glu) n.518-282G>T | gnomAD v4 |
3 | g.177047353C>A | CA355552105 | TBL1XR1,TBL1XR1-AS1 | c.811G>T (p.Ala271Ser) c.550G>T (p.Ala184Ser) c.416G>T c.841G>T (p.Ala281Ser) c.850G>T (p.Ala284Ser) n.518-281C>A | gnomAD v4 |
3 | g.177047353C>G | CA355552103 | TBL1XR1,TBL1XR1-AS1 | c.811G>C (p.Ala271Pro) c.550G>C (p.Ala184Pro) c.416G>C c.841G>C (p.Ala281Pro) c.850G>C (p.Ala284Pro) n.518-281C>G | gnomAD v4 COSMIC |
3 | g.177047353C>T | CA355552104 | TBL1XR1,TBL1XR1-AS1 | c.811G>A (p.Ala271Thr) c.550G>A (p.Ala184Thr) c.416G>A c.841G>A (p.Ala281Thr) c.850G>A (p.Ala284Thr) n.518-281C>T | gnomAD v4 |
3 | g.177047354A>C | CA355552106 | TBL1XR1,TBL1XR1-AS1 | c.810T>G (p.Phe270Leu) c.549T>G (p.Phe183Leu) c.415T>G c.840T>G (p.Phe280Leu) c.849T>G (p.Phe283Leu) n.518-280A>C | |
3 | g.177047354A>G | CA436985688 | TBL1XR1,TBL1XR1-AS1 | c.810T>C (p.Phe270=) c.549T>C (p.Phe183=) c.415T>C c.840T>C (p.Phe280=) c.849T>C (p.Phe283=) n.518-280A>G | dbSNP |
3 | g.177047354A>T | CA355552107 | TBL1XR1,TBL1XR1-AS1 | c.810T>A (p.Phe270Leu) c.549T>A (p.Phe183Leu) c.415T>A c.840T>A (p.Phe280Leu) c.849T>A (p.Phe283Leu) n.518-280A>T | |
3 | g.177047355A>C | CA355552108 | TBL1XR1,TBL1XR1-AS1 | c.809T>G (p.Phe270Cys) c.548T>G (p.Phe183Cys) c.414T>G c.839T>G (p.Phe280Cys) c.848T>G (p.Phe283Cys) n.518-279A>C | ClinVar COSMIC |
3 | g.177047355A>G | CA355552109 | TBL1XR1,TBL1XR1-AS1 | c.809T>C (p.Phe270Ser) c.548T>C (p.Phe183Ser) c.414T>C c.839T>C (p.Phe280Ser) c.848T>C (p.Phe283Ser) n.518-279A>G | |
3 | g.177047355A>T | CA355552110 | TBL1XR1,TBL1XR1-AS1 | c.809T>A (p.Phe270Tyr) c.548T>A (p.Phe183Tyr) c.414T>A c.839T>A (p.Phe280Tyr) c.848T>A (p.Phe283Tyr) n.518-279A>T | |
3 | g.177047355_177047357delinsAAT | CA1422667525 | TBL1XR1,TBL1XR1-AS1 | c.807_809delinsATT (p.Ile269=) c.546_548delinsATT (p.Ile182=) c.412_414delinsATT c.837_839delinsATT (p.Ile279=) c.846_848delinsATT (p.Ile282=) n.518-279_518-277delinsAAT | |
3 | g.177047356A>C | CA355552111 | TBL1XR1,TBL1XR1-AS1 | c.808T>G (p.Phe270Val) c.547T>G (p.Phe183Val) c.413T>G c.838T>G (p.Phe280Val) c.847T>G (p.Phe283Val) n.518-278A>C | |
3 | g.177047356A>G | CA355552113 | TBL1XR1,TBL1XR1-AS1 | c.808T>C (p.Phe270Leu) c.547T>C (p.Phe183Leu) c.413T>C c.838T>C (p.Phe280Leu) c.847T>C (p.Phe283Leu) n.518-278A>G | |
3 | g.177047356A>T | CA355552112 | TBL1XR1,TBL1XR1-AS1 | c.808T>A (p.Phe270Ile) c.547T>A (p.Phe183Ile) c.413T>A c.838T>A (p.Phe280Ile) c.847T>A (p.Phe283Ile) n.518-278A>T | |
3 | g.177047359_177047360del | CA1422667526 | TBL1XR1,TBL1XR1-AS1 | c.807_808del (p.Phe270CysfsTer6) c.546_547del (p.Phe183CysfsTer6) c.412_413del c.837_838del (p.Phe280CysfsTer6) c.846_847del (p.Phe283CysfsTer6) n.518-275_518-274del | ClinVar dbSNP |
3 | g.177047357T>A | CA436985690 | TBL1XR1,TBL1XR1-AS1 | c.807A>T (p.Ile269=) c.546A>T (p.Ile182=) c.412A>T c.837A>T (p.Ile279=) c.846A>T (p.Ile282=) n.518-277T>A | |
3 | g.177047357T>C | CA355552114 | TBL1XR1,TBL1XR1-AS1 | c.807A>G (p.Ile269Met) c.546A>G (p.Ile182Met) c.412A>G c.837A>G (p.Ile279Met) c.846A>G (p.Ile282Met) n.518-277T>C | COSMIC |
3 | g.177047357T>G | CA436985691 | TBL1XR1,TBL1XR1-AS1 | c.807A>C (p.Ile269=) c.546A>C (p.Ile182=) c.412A>C c.837A>C (p.Ile279=) c.846A>C (p.Ile282=) n.518-277T>G | |
3 | g.177047358A>C | CA355552115 | TBL1XR1,TBL1XR1-AS1 | c.806T>G (p.Ile269Arg) c.545T>G (p.Ile182Arg) c.411T>G c.836T>G (p.Ile279Arg) c.845T>G (p.Ile282Arg) n.518-276A>C | |
3 | g.177047358A>G | CA355552116 | TBL1XR1,TBL1XR1-AS1 | c.806T>C (p.Ile269Thr) c.545T>C (p.Ile182Thr) c.411T>C c.836T>C (p.Ile279Thr) c.845T>C (p.Ile282Thr) n.518-276A>G | |
3 | g.177047358A>T | CA355552117 | TBL1XR1,TBL1XR1-AS1 | c.806T>A (p.Ile269Lys) c.545T>A (p.Ile182Lys) c.411T>A c.836T>A (p.Ile279Lys) c.845T>A (p.Ile282Lys) n.518-276A>T | |
3 | g.177047359T>A | CA355552118 | TBL1XR1,TBL1XR1-AS1 | c.805A>T (p.Ile269Leu) c.544A>T (p.Ile182Leu) c.410A>T c.835A>T (p.Ile279Leu) c.844A>T (p.Ile282Leu) n.518-275T>A | |
3 | g.177047359T>C | CA355552119 | TBL1XR1,TBL1XR1-AS1 | c.805A>G (p.Ile269Val) c.544A>G (p.Ile182Val) c.410A>G c.835A>G (p.Ile279Val) c.844A>G (p.Ile282Val) n.518-275T>C | gnomAD v4 |
3 | g.177047359T>G | CA355552120 | TBL1XR1,TBL1XR1-AS1 | c.805A>C (p.Ile269Leu) c.544A>C (p.Ile182Leu) c.410A>C c.835A>C (p.Ile279Leu) c.844A>C (p.Ile282Leu) n.518-275T>G |