Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.177047256G>CCA2668596699TBL1XR1,TBL1XR1-AS1c.864+44C>G (n.864+44C>G)
c.603+44C>G (n.603+44C>G)
c.469+44C>G
c.894+44C>G (n.894+44C>G)
c.903+44C>G (n.903+44C>G)
n.518-378G>C
 gnomAD v4
3g.177047256G>TCA2668596698TBL1XR1,TBL1XR1-AS1c.864+44C>A (n.864+44C>A)
c.603+44C>A (n.603+44C>A)
c.469+44C>A
c.894+44C>A (n.894+44C>A)
c.903+44C>A (n.903+44C>A)
n.518-378G>T
 gnomAD v4
3g.177047257C>ACA548242929TBL1XR1,TBL1XR1-AS1c.864+43G>T (n.864+43G>T)
c.603+43G>T (n.603+43G>T)
c.469+43G>T
c.894+43G>T (n.894+43G>T)
c.903+43G>T (n.903+43G>T)
n.518-377C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047257C=CA1422667501TBL1XR1,TBL1XR1-AS1c.864+43G= (n.864+43G=)
c.603+43G= (n.603+43G=)
c.469+43G=
c.894+43G= (n.894+43G=)
c.903+43G= (n.903+43G=)
n.518-377C=
3g.177047257C>TCA548242930TBL1XR1,TBL1XR1-AS1c.864+43G>A (n.864+43G>A)
c.603+43G>A (n.603+43G>A)
c.469+43G>A
c.894+43G>A (n.894+43G>A)
c.903+43G>A (n.903+43G>A)
n.518-377C>T
 dbSNP gnomAD v2 gnomAD v4
3g.177047260T>CCA2668596701TBL1XR1,TBL1XR1-AS1c.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
3g.177047261_177047262delCA2668596700TBL1XR1,TBL1XR1-AS1c.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
3g.177047261G>TCA2668596702TBL1XR1,TBL1XR1-AS1c.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
3g.177047262T>CCA2668596703TBL1XR1,TBL1XR1-AS1c.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
3g.177047264A>TCA2668596704TBL1XR1,TBL1XR1-AS1c.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
3g.177047264_177047274delinsATACATTTGCCCA1422667502TBL1XR1,TBL1XR1-AS1c.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
3g.177047266_177047275delCA1422667503TBL1XR1,TBL1XR1-AS1c.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
3g.177047266A>TCA2668596705TBL1XR1,TBL1XR1-AS1c.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
3g.177047267C>ACA548242931TBL1XR1,TBL1XR1-AS1c.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
3g.177047267C=CA1422667504TBL1XR1,TBL1XR1-AS1c.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=
3g.177047267C>TCA1056720953TBL1XR1,TBL1XR1-AS1c.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
3g.177047268A=CA1422667505TBL1XR1,TBL1XR1-AS1c.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=
3g.177047268A>CCA2668596707TBL1XR1,TBL1XR1-AS1c.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
3g.177047268A>GCA1422667506TBL1XR1,TBL1XR1-AS1c.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
3g.177047268_177047271dupCA2668596706TBL1XR1,TBL1XR1-AS1c.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
3g.177047271T>ACA89088925TBL1XR1,TBL1XR1-AS1c.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
3g.177047271T>CCA2759515820TBL1XR1,TBL1XR1-AS1c.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
3g.177047271T=CA1422667507TBL1XR1,TBL1XR1-AS1c.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=
3g.177047272delCA2668596708TBL1XR1,TBL1XR1-AS1c.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
3g.177047272G>ACA89088926TBL1XR1,TBL1XR1-AS1c.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
3g.177047272G>CCA1056720960TBL1XR1,TBL1XR1-AS1c.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
3g.177047272G=CA1422667508TBL1XR1,TBL1XR1-AS1c.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=
3g.177047272G>TCA2572712889TBL1XR1,TBL1XR1-AS1c.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
3g.177047273C>ACA2668596709TBL1XR1,TBL1XR1-AS1c.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
3g.177047273C>TCA2668596710TBL1XR1,TBL1XR1-AS1c.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
3g.177047274C>TCA2668596711TBL1XR1,TBL1XR1-AS1c.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
3g.177047275T>ACA2668596712TBL1XR1,TBL1XR1-AS1c.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
3g.177047275T>CCA2668596713TBL1XR1,TBL1XR1-AS1c.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
3g.177047276T>ACA2668596714TBL1XR1,TBL1XR1-AS1c.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
3g.177047276T>CCA2668596715TBL1XR1,TBL1XR1-AS1c.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
3g.177047277T>CCA2668596716TBL1XR1,TBL1XR1-AS1c.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
3g.177047278A>TCA2668596717TBL1XR1,TBL1XR1-AS1c.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
3g.177047279C>ACA2668596718TBL1XR1,TBL1XR1-AS1c.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
3g.177047279C=CA1422667509TBL1XR1,TBL1XR1-AS1c.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=
3g.177047279C>TCA89088927TBL1XR1,TBL1XR1-AS1c.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
3g.177047281G>ACA2668596719TBL1XR1,TBL1XR1-AS1c.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
3g.177047281G>TCA2668596720TBL1XR1,TBL1XR1-AS1c.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
3g.177047283A>GCA2668596721TBL1XR1,TBL1XR1-AS1c.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
3g.177047284delCA2577962583TBL1XR1,TBL1XR1-AS1c.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
3g.177047284C>ACA2668596722TBL1XR1,TBL1XR1-AS1c.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
3g.177047284C>TCA2577962584TBL1XR1,TBL1XR1-AS1c.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
3g.177047285T>GCA548242932TBL1XR1,TBL1XR1-AS1c.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
3g.177047285T=CA1422667510TBL1XR1,TBL1XR1-AS1c.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=
3g.177047286T>ACA2668596723TBL1XR1,TBL1XR1-AS1c.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
3g.177047286T>CCA2668596724TBL1XR1,TBL1XR1-AS1c.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
3g.177047288A>TCA2668596725TBL1XR1,TBL1XR1-AS1c.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
3g.177047289T>GCA548242933TBL1XR1,TBL1XR1-AS1c.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
3g.177047289T=CA1422667511TBL1XR1,TBL1XR1-AS1c.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=
3g.177047290G>ACA2668596726TBL1XR1,TBL1XR1-AS1c.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
3g.177047290G>TCA2668596727TBL1XR1,TBL1XR1-AS1c.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
3g.177047291A>GCA2577962585TBL1XR1,TBL1XR1-AS1c.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
3g.177047291_177047296delCA2668596728TBL1XR1,TBL1XR1-AS1c.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
3g.177047292G>ACA2577962586TBL1XR1,TBL1XR1-AS1c.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
3g.177047292G>TCA2668596729TBL1XR1,TBL1XR1-AS1c.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
3g.177047292_177047293delinsGCCA1422667512TBL1XR1,TBL1XR1-AS1c.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
3g.177047293delCA2709880TBL1XR1,TBL1XR1-AS1c.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
3g.177047293C>ACA2668596730TBL1XR1,TBL1XR1-AS1c.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
3g.177047293C=CA1422667513TBL1XR1,TBL1XR1-AS1c.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=
3g.177047293C>GCA903114408TBL1XR1,TBL1XR1-AS1c.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
3g.177047296_177047302delCA645526868TBL1XR1,TBL1XR1-AS1c.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
3g.177047294T>CCA548242935TBL1XR1,TBL1XR1-AS1c.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
3g.177047294T=CA1422667514TBL1XR1,TBL1XR1-AS1c.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=
3g.177047297delCA2668596731TBL1XR1,TBL1XR1-AS1c.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
3g.177047297T>CCA2668596732TBL1XR1,TBL1XR1-AS1c.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
3g.177047298A>CCA355551973TBL1XR1,TBL1XR1-AS1c.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
3g.177047298A>GCA355551972TBL1XR1,TBL1XR1-AS1c.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
3g.177047298A>TCA355551971TBL1XR1,TBL1XR1-AS1c.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
3g.177047299C>ACA355551974TBL1XR1,TBL1XR1-AS1c.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
3g.177047299C>GCA355551975TBL1XR1,TBL1XR1-AS1c.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
3g.177047299C>TCA355551976TBL1XR1,TBL1XR1-AS1c.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
3g.177047300C>ACA355551977TBL1XR1,TBL1XR1-AS1c.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
3g.177047300C>GCA355551978TBL1XR1,TBL1XR1-AS1c.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
3g.177047300C>TCA436985622TBL1XR1,TBL1XR1-AS1c.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
3g.177047301T>ACA355551979TBL1XR1,TBL1XR1-AS1c.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
3g.177047301T>CCA355551980TBL1XR1,TBL1XR1-AS1c.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
3g.177047301T>GCA355551981TBL1XR1,TBL1XR1-AS1c.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
3g.177047302T>ACA355551982TBL1XR1,TBL1XR1-AS1c.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
3g.177047302T>CCA355551983TBL1XR1,TBL1XR1-AS1c.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
3g.177047302T>GCA355551984TBL1XR1,TBL1XR1-AS1c.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
3g.177047302T=CA1422667515TBL1XR1,TBL1XR1-AS1c.862A= (p.Lys288=)
c.601A= (p.Lys201=)
c.467A=
c.892A= (p.Lys298=)
c.901A= (p.Lys301=)
n.518-332T=
3g.177047303G>ACA436985627TBL1XR1,TBL1XR1-AS1c.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
3g.177047303G>CCA355551985TBL1XR1,TBL1XR1-AS1c.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
3g.177047303G>TCA355551986TBL1XR1,TBL1XR1-AS1c.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
3g.177047304T>ACA355551989TBL1XR1,TBL1XR1-AS1c.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
3g.177047304T>CCA355551987TBL1XR1,TBL1XR1-AS1c.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
3g.177047304T>GCA355551988TBL1XR1,TBL1XR1-AS1c.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
3g.177047305C>ACA355551990TBL1XR1,TBL1XR1-AS1c.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
3g.177047305C>GCA355551991TBL1XR1,TBL1XR1-AS1c.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
3g.177047305C>TCA355551992TBL1XR1,TBL1XR1-AS1c.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
3g.177047306T>ACA436985630TBL1XR1,TBL1XR1-AS1c.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
3g.177047306T>CCA436985628TBL1XR1,TBL1XR1-AS1c.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
3g.177047306T>GCA436985629TBL1XR1,TBL1XR1-AS1c.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
3g.177047307A=CA1422667516TBL1XR1,TBL1XR1-AS1c.857T= (p.Val286=)
c.596T= (p.Val199=)
c.462T=
c.887T= (p.Val296=)
c.896T= (p.Val299=)
n.518-327A=
3g.177047307A>CCA16617844TBL1XR1,TBL1XR1-AS1c.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
3g.177047307A>GCA355551993TBL1XR1,TBL1XR1-AS1c.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
3g.177047307A>TCA355551994TBL1XR1,TBL1XR1-AS1c.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
3g.177047308C>ACA355551995TBL1XR1,TBL1XR1-AS1c.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
3g.177047308C>GCA355551996TBL1XR1,TBL1XR1-AS1c.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
3g.177047308C>TCA355551997TBL1XR1,TBL1XR1-AS1c.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
3g.177047309T>ACA436985634TBL1XR1,TBL1XR1-AS1c.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
3g.177047309T>CCA436985633TBL1XR1,TBL1XR1-AS1c.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
3g.177047309T>GCA436985632TBL1XR1,TBL1XR1-AS1c.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
3g.177047309T=CA1422667517TBL1XR1,TBL1XR1-AS1c.855A= (p.Gly285=)
c.594A= (p.Gly198=)
c.460A=
c.885A= (p.Gly295=)
c.894A= (p.Gly298=)
n.518-325T=
3g.177047310C>ACA355551998TBL1XR1,TBL1XR1-AS1c.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
3g.177047310C>GCA355551999TBL1XR1,TBL1XR1-AS1c.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
3g.177047310C>TCA355552000TBL1XR1,TBL1XR1-AS1c.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
3g.177047311delCA2668596733TBL1XR1,TBL1XR1-AS1c.854del (p.Gly285GlufsTer2)
c.593del (p.Gly198GlufsTer2)
c.459del
c.884del (p.Gly295GlufsTer2)
c.893del (p.Gly298GlufsTer2)
n.518-323del
 gnomAD v4
3g.177047311C>ACA355552001TBL1XR1,TBL1XR1-AS1c.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
3g.177047311C>GCA355552003TBL1XR1,TBL1XR1-AS1c.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
3g.177047311C>TCA355552002TBL1XR1,TBL1XR1-AS1c.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
3g.177047312A>CCA436985635TBL1XR1,TBL1XR1-AS1c.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
3g.177047312A>GCA436985637TBL1XR1,TBL1XR1-AS1c.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
3g.177047312A>TCA436985636TBL1XR1,TBL1XR1-AS1c.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
3g.177047313G>ACA355552004TBL1XR1,TBL1XR1-AS1c.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
3g.177047313G>CCA355552006TBL1XR1,TBL1XR1-AS1c.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
3g.177047313G>TCA355552005TBL1XR1,TBL1XR1-AS1c.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
3g.177047314C>ACA355552007TBL1XR1,TBL1XR1-AS1c.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
3g.177047314C>GCA355552009TBL1XR1,TBL1XR1-AS1c.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
3g.177047314C>TCA355552008TBL1XR1,TBL1XR1-AS1c.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
3g.177047315A>CCA355552010TBL1XR1,TBL1XR1-AS1c.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
3g.177047315A>GCA436985640TBL1XR1,TBL1XR1-AS1c.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
3g.177047315A>TCA355552011TBL1XR1,TBL1XR1-AS1c.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
3g.177047316C>ACA355552012TBL1XR1,TBL1XR1-AS1c.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
3g.177047316C>GCA355552013TBL1XR1,TBL1XR1-AS1c.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
3g.177047316C>TCA355552014TBL1XR1,TBL1XR1-AS1c.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
3g.177047317T>ACA355552015TBL1XR1,TBL1XR1-AS1c.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
3g.177047317T>CCA355552016TBL1XR1,TBL1XR1-AS1c.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
3g.177047317T>GCA355552017TBL1XR1,TBL1XR1-AS1c.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
3g.177047318delCA2668596734TBL1XR1,TBL1XR1-AS1c.847del (p.Ser283ValfsTer4)
c.586del (p.Ser196ValfsTer4)
c.452del
c.877del (p.Ser293ValfsTer4)
c.886del (p.Ser296ValfsTer4)
n.518-316del
 gnomAD v4
3g.177047318T>ACA436985642TBL1XR1,TBL1XR1-AS1c.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
3g.177047318T>CCA89088928TBL1XR1,TBL1XR1-AS1c.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
3g.177047318T>GCA436985646TBL1XR1,TBL1XR1-AS1c.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
3g.177047318T=CA1422667518TBL1XR1,TBL1XR1-AS1c.846A= (p.Leu282=)
c.585A= (p.Leu195=)
c.451A=
c.876A= (p.Leu292=)
c.885A= (p.Leu295=)
n.518-316T=
3g.177047319A=CA1422667519TBL1XR1,TBL1XR1-AS1c.845T= (p.Leu282=)
c.584T= (p.Leu195=)
c.450T=
c.875T= (p.Leu292=)
c.884T= (p.Leu295=)
n.518-315A=
3g.177047319A>CCA355552018TBL1XR1,TBL1XR1-AS1c.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
3g.177047319A>GCA355552019TBL1XR1,TBL1XR1-AS1c.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
3g.177047319A>TCA355552020TBL1XR1,TBL1XR1-AS1c.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
3g.177047320G>ACA436985648TBL1XR1,TBL1XR1-AS1c.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
3g.177047320G>CCA355552021TBL1XR1,TBL1XR1-AS1c.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
3g.177047320G>TCA355552022TBL1XR1,TBL1XR1-AS1c.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
3g.177047321G>ACA89088929TBL1XR1,TBL1XR1-AS1c.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
3g.177047321G>CCA355552023TBL1XR1,TBL1XR1-AS1c.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
3g.177047321G=CA1422667520TBL1XR1,TBL1XR1-AS1c.843C= (p.Ile281=)
c.582C= (p.Ile194=)
c.448C=
c.873C= (p.Ile291=)
c.882C= (p.Ile294=)
n.518-313G=
3g.177047321G>TCA436985651TBL1XR1,TBL1XR1-AS1c.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
3g.177047322A>CCA355552024TBL1XR1,TBL1XR1-AS1c.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
3g.177047322A>GCA355552025TBL1XR1,TBL1XR1-AS1c.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
3g.177047322A>TCA355552026TBL1XR1,TBL1XR1-AS1c.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
3g.177047323T>ACA355552027TBL1XR1,TBL1XR1-AS1c.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
3g.177047323T>CCA355552028TBL1XR1,TBL1XR1-AS1c.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
3g.177047323T>GCA355552029TBL1XR1,TBL1XR1-AS1c.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
3g.177047324G>ACA436985653TBL1XR1,TBL1XR1-AS1c.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
3g.177047324G>CCA355552030TBL1XR1,TBL1XR1-AS1c.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
3g.177047324G=CA1422667521TBL1XR1,TBL1XR1-AS1c.840C= (p.Phe280=)
c.579C= (p.Phe193=)
c.445C=
c.870C= (p.Phe290=)
c.879C= (p.Phe293=)
n.518-310G=
3g.177047324G>TCA355552031TBL1XR1,TBL1XR1-AS1c.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
3g.177047325A>CCA355552033TBL1XR1,TBL1XR1-AS1c.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
3g.177047325A>GCA355552034TBL1XR1,TBL1XR1-AS1c.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
3g.177047325A>TCA355552032TBL1XR1,TBL1XR1-AS1c.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
3g.177047326A>CCA355552035TBL1XR1,TBL1XR1-AS1c.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
3g.177047326A>GCA355552036TBL1XR1,TBL1XR1-AS1c.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
3g.177047326A>TCA355552037TBL1XR1,TBL1XR1-AS1c.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
3g.177047327A>CCA355552038TBL1XR1,TBL1XR1-AS1c.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
3g.177047327A>GCA436985657TBL1XR1,TBL1XR1-AS1c.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
3g.177047327A>TCA355552039TBL1XR1,TBL1XR1-AS1c.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
3g.177047328T>ACA355552040TBL1XR1,TBL1XR1-AS1c.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
3g.177047328T>CCA355552041TBL1XR1,TBL1XR1-AS1c.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
3g.177047328T>GCA355552042TBL1XR1,TBL1XR1-AS1c.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
3g.177047329T>ACA355552043TBL1XR1,TBL1XR1-AS1c.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
3g.177047329T>CCA355552044TBL1XR1,TBL1XR1-AS1c.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
3g.177047329T>GCA355552045TBL1XR1,TBL1XR1-AS1c.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
3g.177047330T>ACA436985659TBL1XR1,TBL1XR1-AS1c.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
3g.177047330T>CCA436985660TBL1XR1,TBL1XR1-AS1c.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
3g.177047330T>GCA436985661TBL1XR1,TBL1XR1-AS1c.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
3g.177047331C>ACA355552048TBL1XR1,TBL1XR1-AS1c.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
3g.177047331C>GCA355552047TBL1XR1,TBL1XR1-AS1c.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
3g.177047331C>TCA355552046TBL1XR1,TBL1XR1-AS1c.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
3g.177047332C>ACA355552049TBL1XR1,TBL1XR1-AS1c.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
3g.177047332C>GCA355552050TBL1XR1,TBL1XR1-AS1c.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
3g.177047332C>TCA355552051TBL1XR1,TBL1XR1-AS1c.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
3g.177047333T>ACA355552052TBL1XR1,TBL1XR1-AS1c.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
3g.177047333T>CCA436985664TBL1XR1,TBL1XR1-AS1c.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
3g.177047333T>GCA355552053TBL1XR1,TBL1XR1-AS1c.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
3g.177047333T=CA1422667522TBL1XR1,TBL1XR1-AS1c.831A= (p.Lys277=)
c.570A= (p.Lys190=)
c.436A=
c.861A= (p.Lys287=)
c.870A= (p.Lys290=)
n.518-301T=
3g.177047334_177047335delCA2739278492TBL1XR1,TBL1XR1-AS1c.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
3g.177047334T>ACA355552054TBL1XR1,TBL1XR1-AS1c.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
3g.177047334T>CCA355552055TBL1XR1,TBL1XR1-AS1c.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
3g.177047334T>GCA355552056TBL1XR1,TBL1XR1-AS1c.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
3g.177047335T>ACA355552057TBL1XR1,TBL1XR1-AS1c.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
3g.177047335T>CCA355552058TBL1XR1,TBL1XR1-AS1c.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
3g.177047335T>GCA355552059TBL1XR1,TBL1XR1-AS1c.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
3g.177047336C>ACA355552060TBL1XR1,TBL1XR1-AS1c.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
3g.177047336C>GCA355552061TBL1XR1,TBL1XR1-AS1c.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
3g.177047336C>TCA436985671TBL1XR1,TBL1XR1-AS1c.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
3g.177047337T>ACA355552063TBL1XR1,TBL1XR1-AS1c.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
3g.177047337T>CCA355552064TBL1XR1,TBL1XR1-AS1c.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
3g.177047337T>GCA355552062TBL1XR1,TBL1XR1-AS1c.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
3g.177047338T>ACA355552065TBL1XR1,TBL1XR1-AS1c.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
3g.177047338T>CCA355552066TBL1XR1,TBL1XR1-AS1c.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
3g.177047338T>GCA355552067TBL1XR1,TBL1XR1-AS1c.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
3g.177047339A>CCA355552068TBL1XR1,TBL1XR1-AS1c.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
3g.177047339A>GCA436985673TBL1XR1,TBL1XR1-AS1c.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
3g.177047339A>TCA355552069TBL1XR1,TBL1XR1-AS1c.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
3g.177047340T>ACA355552072TBL1XR1,TBL1XR1-AS1c.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
3g.177047340T>CCA355552071TBL1XR1,TBL1XR1-AS1c.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
3g.177047340T>GCA355552070TBL1XR1,TBL1XR1-AS1c.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
3g.177047341T>ACA355552073TBL1XR1,TBL1XR1-AS1c.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
3g.177047341T>CCA355552074TBL1XR1,TBL1XR1-AS1c.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
3g.177047341T>GCA355552075TBL1XR1,TBL1XR1-AS1c.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
3g.177047342C>ACA355552076TBL1XR1,TBL1XR1-AS1c.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
3g.177047342C>GCA355552077TBL1XR1,TBL1XR1-AS1c.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
3g.177047342C>TCA355552078TBL1XR1,TBL1XR1-AS1c.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
3g.177047343C>ACA355552081TBL1XR1,TBL1XR1-AS1c.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
3g.177047343C>GCA355552079TBL1XR1,TBL1XR1-AS1c.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
3g.177047343C>TCA355552080TBL1XR1,TBL1XR1-AS1c.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
3g.177047344A>CCA355552082TBL1XR1,TBL1XR1-AS1c.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
3g.177047344A>GCA355552083TBL1XR1,TBL1XR1-AS1c.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
3g.177047344A>TCA355552084TBL1XR1,TBL1XR1-AS1c.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
3g.177047345T>ACA355552085TBL1XR1,TBL1XR1-AS1c.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
3g.177047345T>CCA89088930TBL1XR1,TBL1XR1-AS1c.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
3g.177047345T>GCA355552086TBL1XR1,TBL1XR1-AS1c.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
3g.177047345T=CA1422667523TBL1XR1,TBL1XR1-AS1c.819A= (p.Lys273=)
c.558A= (p.Lys186=)
c.424A=
c.849A= (p.Lys283=)
c.858A= (p.Lys286=)
n.518-289T=
3g.177047348delCA2668596735TBL1XR1,TBL1XR1-AS1c.819del (p.Lys273AsnfsTer10)
c.558del (p.Lys186AsnfsTer10)
c.424del
c.849del (p.Lys283AsnfsTer10)
c.858del (p.Lys286AsnfsTer10)
n.518-286del
 gnomAD v4
3g.177047346T>ACA355552087TBL1XR1,TBL1XR1-AS1c.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
3g.177047346T>CCA355552088TBL1XR1,TBL1XR1-AS1c.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
3g.177047346T>GCA355552089TBL1XR1,TBL1XR1-AS1c.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
3g.177047347T>ACA355552090TBL1XR1,TBL1XR1-AS1c.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
3g.177047347T>CCA355552091TBL1XR1,TBL1XR1-AS1c.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
3g.177047347T>GCA355552092TBL1XR1,TBL1XR1-AS1c.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
3g.177047348T>ACA355552093TBL1XR1,TBL1XR1-AS1c.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
3g.177047348T>CCA436985679TBL1XR1,TBL1XR1-AS1c.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
3g.177047348T>GCA355552094TBL1XR1,TBL1XR1-AS1c.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
3g.177047349A>CCA355552095TBL1XR1,TBL1XR1-AS1c.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
3g.177047349A>GCA355552097TBL1XR1,TBL1XR1-AS1c.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
3g.177047349A>TCA355552096TBL1XR1,TBL1XR1-AS1c.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
3g.177047350A>CCA355552098TBL1XR1,TBL1XR1-AS1c.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
3g.177047350A>GCA436985681TBL1XR1,TBL1XR1-AS1c.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
3g.177047350A>TCA355552099TBL1XR1,TBL1XR1-AS1c.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
3g.177047351T>ACA436985683TBL1XR1,TBL1XR1-AS1c.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
3g.177047351T>CCA2709881TBL1XR1,TBL1XR1-AS1c.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
3g.177047351T>GCA436985684TBL1XR1,TBL1XR1-AS1c.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
3g.177047351T=CA1422667524TBL1XR1,TBL1XR1-AS1c.813A= (p.Ala271=)
c.552A= (p.Ala184=)
c.418A=
c.843A= (p.Ala281=)
c.852A= (p.Ala284=)
n.518-283T=
3g.177047352G>ACA355552100TBL1XR1,TBL1XR1-AS1c.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
3g.177047352G>CCA355552101TBL1XR1,TBL1XR1-AS1c.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
3g.177047352G>TCA355552102TBL1XR1,TBL1XR1-AS1c.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
3g.177047353C>ACA355552105TBL1XR1,TBL1XR1-AS1c.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
3g.177047353C>GCA355552103TBL1XR1,TBL1XR1-AS1c.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
3g.177047353C>TCA355552104TBL1XR1,TBL1XR1-AS1c.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
3g.177047354A>CCA355552106TBL1XR1,TBL1XR1-AS1c.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
3g.177047354A>GCA436985688TBL1XR1,TBL1XR1-AS1c.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
3g.177047354A>TCA355552107TBL1XR1,TBL1XR1-AS1c.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
3g.177047355A>CCA355552108TBL1XR1,TBL1XR1-AS1c.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
3g.177047355A>GCA355552109TBL1XR1,TBL1XR1-AS1c.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
3g.177047355A>TCA355552110TBL1XR1,TBL1XR1-AS1c.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
3g.177047355_177047357delinsAATCA1422667525TBL1XR1,TBL1XR1-AS1c.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
3g.177047356A>CCA355552111TBL1XR1,TBL1XR1-AS1c.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
3g.177047356A>GCA355552113TBL1XR1,TBL1XR1-AS1c.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
3g.177047356A>TCA355552112TBL1XR1,TBL1XR1-AS1c.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
3g.177047359_177047360delCA1422667526TBL1XR1,TBL1XR1-AS1c.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

Number of alleles fetched