| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.220878483T>A | CA1222592084 | HLX-AS1 | c.843-2711T>A (n.843-2711T>A) n.292+1366A>T c.576A>T (p.Thr192=) | dbSNP |
| 1 | g.220878483T>C | CA2552762604 | HLX-AS1 | c.843-2711T>C (n.843-2711T>C) n.292+1366A>G c.576A>G (p.Thr192=) | |
| 1 | g.220878483T= | CA1222592083 | HLX-AS1 | c.843-2711T= (n.843-2711T=) n.292+1366A= c.576A= (p.Thr192=) | |
| 1 | g.220878490G>A | CA731844595 | HLX-AS1 | c.843-2704G>A (n.843-2704G>A) n.292+1359C>T c.569C>T (p.Ser190Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878490G= | CA1222592085 | HLX-AS1 | c.843-2704G= (n.843-2704G=) n.292+1359C= c.569C= (p.Ser190=) | |
| 1 | g.220878491_220878503delinsAATTGAAAGCAGT | CA1222592086 | HLX-AS1 | c.843-2703_843-2691delinsAATTGAAAGCAGT (n.843-2703_843-2691delinsAATTGAAAGCAGT) n.292+1346_292+1358delinsACTGCTTTCAATT c.556_568delinsACTGCTTTCAATT (p.Thr186=) | |
| 1 | g.220878498_220878509del | CA1222592087 | HLX-AS1 | c.843-2696_843-2685del (n.843-2696_843-2685del) n.292+1346_292+1357del c.556_567del (p.Thr186_Asn189del) | dbSNP |
| 1 | g.220878493T>C | CA2698211496 | HLX-AS1 | c.843-2701T>C (n.843-2701T>C) n.292+1356A>G c.566A>G (p.Asn189Ser) | dbSNP |
| 1 | g.220878495G= | CA1222592088 | HLX-AS1 | c.843-2699G= (n.843-2699G=) n.292+1354C= c.564C= (p.Phe188=) | |
| 1 | g.220878495G>T | CA1222592089 | HLX-AS1 | c.843-2699G>T (n.843-2699G>T) n.292+1354C>A c.564C>A (p.Phe188Leu) | dbSNP |
| 1 | g.220878498A= | CA1222592090 | HLX-AS1 | c.843-2696A= (n.843-2696A=) n.292+1351T= c.561T= (p.Ala187=) | |
| 1 | g.220878498A>G | CA1222592091 | HLX-AS1 | c.843-2696A>G (n.843-2696A>G) n.292+1351T>C c.561T>C (p.Ala187=) | dbSNP |
| 1 | g.220878499G>C | CA38028701 | HLX-AS1 | c.843-2695G>C (n.843-2695G>C) n.292+1350C>G c.560C>G (p.Ala187Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878499G= | CA1222592092 | HLX-AS1 | c.843-2695G= (n.843-2695G=) n.292+1350C= c.560C= (p.Ala187=) | |
| 1 | g.220878503T>A | CA529297771 | HLX-AS1 | c.843-2691T>A (n.843-2691T>A) n.292+1346A>T c.556A>T (p.Thr186Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878503T= | CA1222592093 | HLX-AS1 | c.843-2691T= (n.843-2691T=) n.292+1346A= c.556A= (p.Thr186=) | |
| 1 | g.220878506T>C | CA38028703 | HLX-AS1 | c.843-2688T>C (n.843-2688T>C) n.292+1343A>G c.553A>G (p.Asn185Asp) | dbSNP |
| 1 | g.220878506T= | CA1222592094 | HLX-AS1 | c.843-2688T= (n.843-2688T=) n.292+1343A= c.553A= (p.Asn185=) | |
| 1 | g.220878511C= | CA1222592095 | HLX-AS1 | c.843-2683C= (n.843-2683C=) n.292+1338G= c.548G= (p.Gly183=) | |
| 1 | g.220878511C>G | CA731844600 | HLX-AS1 | c.843-2683C>G (n.843-2683C>G) n.292+1338G>C c.548G>C (p.Gly183Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878512C= | CA1222592096 | HLX-AS1 | c.843-2682C= (n.843-2682C=) n.292+1337G= c.547G= (p.Gly183=) | |
| 1 | g.220878512C>T | CA1222592097 | HLX-AS1 | c.843-2682C>T (n.843-2682C>T) n.292+1337G>A c.547G>A (p.Gly183Arg) | dbSNP |
| 1 | g.220878515C= | CA1222592098 | HLX-AS1 | c.843-2679C= (n.843-2679C=) n.292+1334G= c.544G= (p.Val182=) | |
| 1 | g.220878515C>T | CA731844604 | HLX-AS1 | c.843-2679C>T (n.843-2679C>T) n.292+1334G>A c.544G>A (p.Val182Met) | dbSNP |
| 1 | g.220878517G>A | CA1222592100 | HLX-AS1 | c.843-2677G>A (n.843-2677G>A) n.292+1332C>T c.542C>T (p.Ser181Phe) | dbSNP |
| 1 | g.220878517G= | CA1222592099 | HLX-AS1 | c.843-2677G= (n.843-2677G=) n.292+1332C= c.542C= (p.Ser181=) | |
| 1 | g.220878519A= | CA1222592101 | HLX-AS1 | c.843-2675A= (n.843-2675A=) n.292+1330T= c.540T= (p.Ile180=) | |
| 1 | g.220878519A>T | CA1012560181 | HLX-AS1 | c.843-2675A>T (n.843-2675A>T) n.292+1330T>A c.540T>A (p.Ile180=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878522C= | CA1222592102 | HLX-AS1 | c.843-2672C= (n.843-2672C=) n.292+1327G= c.537G= (p.Gln179=) | |
| 1 | g.220878522C>G | CA529297772 | HLX-AS1 | c.843-2672C>G (n.843-2672C>G) n.292+1327G>C c.537G>C (p.Gln179His) | dbSNP gnomAD v2 |
| 1 | g.220878523T>A | CA731844609 | HLX-AS1 | c.843-2671T>A (n.843-2671T>A) n.292+1326A>T c.536A>T (p.Gln179Leu) | dbSNP |
| 1 | g.220878523T= | CA1222592103 | HLX-AS1 | c.843-2671T= (n.843-2671T=) n.292+1326A= c.536A= (p.Gln179=) | |
| 1 | g.220878524G>A | CA1222592105 | HLX-AS1 | c.843-2670G>A (n.843-2670G>A) n.292+1325C>T c.535C>T (p.Gln179Ter) | dbSNP |
| 1 | g.220878524G= | CA1222592104 | HLX-AS1 | c.843-2670G= (n.843-2670G=) n.292+1325C= c.535C= (p.Gln179=) | |
| 1 | g.220878527C= | CA1142191994 | HLX-AS1 | c.843-2667C= (n.843-2667C=) n.292+1322G= c.532G= (p.Glu178=) | |
| 1 | g.220878527C>G | CA38028705 | HLX-AS1 | c.843-2667C>G (n.843-2667C>G) n.292+1322G>C c.532G>C (p.Glu178Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878527C>T | CA38028707 | HLX-AS1 | c.843-2667C>T (n.843-2667C>T) n.292+1322G>A c.532G>A (p.Glu178Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878531T>C | CA2698211497 | HLX-AS1 | c.843-2663T>C (n.843-2663T>C) n.292+1318A>G c.528A>G (p.Pro176=) | dbSNP |
| 1 | g.220878533G>C | CA1012560185 | HLX-AS1 | c.843-2661G>C (n.843-2661G>C) n.292+1316C>G c.526C>G (p.Pro176Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878533G= | CA1222592106 | HLX-AS1 | c.843-2661G= (n.843-2661G=) n.292+1316C= c.526C= (p.Pro176=) | |
| 1 | g.220878533G>T | CA529297773 | HLX-AS1 | c.843-2661G>T (n.843-2661G>T) n.292+1316C>A c.526C>A (p.Pro176Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878540G>A | CA731844613 | HLX-AS1 | c.843-2654G>A (n.843-2654G>A) n.292+1309C>T c.519C>T (p.Cys173=) | dbSNP |
| 1 | g.220878540G= | CA1222592107 | HLX-AS1 | c.843-2654G= (n.843-2654G=) n.292+1309C= c.519C= (p.Cys173=) | |
| 1 | g.220878541C>A | CA1012560189 | HLX-AS1 | c.843-2653C>A (n.843-2653C>A) n.292+1308G>T c.518G>T (p.Cys173Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878541C= | CA1222592108 | HLX-AS1 | c.843-2653C= (n.843-2653C=) n.292+1308G= c.518G= (p.Cys173=) | |
| 1 | g.220878543A= | CA1222592109 | HLX-AS1 | c.843-2651A= (n.843-2651A=) n.292+1306T= c.516T= (p.Phe172=) | |
| 1 | g.220878543A>C | CA731844619 | HLX-AS1 | c.843-2651A>C (n.843-2651A>C) n.292+1306T>G c.516T>G (p.Phe172Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878550G>T | CA2747847449 | HLX-AS1 | c.843-2644G>T (n.843-2644G>T) n.292+1299C>A c.509C>A (p.Ser170Ter) | |
| 1 | g.220878552A= | CA1222592110 | HLX-AS1 | c.843-2642A= (n.843-2642A=) n.292+1297T= c.507T= (p.Gly169=) | |
| 1 | g.220878552A>C | CA1222592111 | HLX-AS1 | c.843-2642A>C (n.843-2642A>C) n.292+1297T>G c.507T>G (p.Gly169=) | dbSNP |
| 1 | g.220878557A= | CA1145804128 | HLX-AS1 | c.843-2637A= (n.843-2637A=) n.292+1292T= c.502T= (p.Trp168=) | |
| 1 | g.220878557A>G | CA38028709 | HLX-AS1 | c.843-2637A>G (n.843-2637A>G) n.292+1292T>C c.502T>C (p.Trp168Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878558C= | CA1141855169 | HLX-AS1 | c.843-2636C= (n.843-2636C=) n.292+1291G= c.501G= (p.Thr167=) | |
| 1 | g.220878558C>G | CA1222592112 | HLX-AS1 | c.843-2636C>G (n.843-2636C>G) n.292+1291G>C c.501G>C (p.Thr167=) | dbSNP |
| 1 | g.220878558C>T | CA38028712 | HLX-AS1 | c.843-2636C>T (n.843-2636C>T) n.292+1291G>A c.501G>A (p.Thr167=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878562A= | CA1222592113 | HLX-AS1 | c.843-2632A= (n.843-2632A=) n.292+1287T= c.497T= (p.Ile166=) | |
| 1 | g.220878562A>T | CA529297774 | HLX-AS1 | c.843-2632A>T (n.843-2632A>T) n.292+1287T>A c.497T>A (p.Ile166Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878565C= | CA1222592114 | HLX-AS1 | c.843-2629C= (n.843-2629C=) n.292+1284G= c.494G= (p.Arg165=) | |
| 1 | g.220878565C>T | CA38028714 | HLX-AS1 | c.843-2629C>T (n.843-2629C>T) n.292+1284G>A c.494G>A (p.Arg165Gln) | dbSNP |
| 1 | g.220878566G>A | CA731844629 | HLX-AS1 | c.843-2628G>A (n.843-2628G>A) n.292+1283C>T c.493C>T (p.Arg165Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878566G= | CA1222592115 | HLX-AS1 | c.843-2628G= (n.843-2628G=) n.292+1283C= c.493C= (p.Arg165=) | |
| 1 | g.220878567G>A | CA529297775 | HLX-AS1 | c.843-2627G>A (n.843-2627G>A) n.292+1282C>T c.492C>T (p.Leu164=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878567G= | CA1222592116 | HLX-AS1 | c.843-2627G= (n.843-2627G=) n.292+1282C= c.492C= (p.Leu164=) | |
| 1 | g.220878573T>C | CA1222592118 | HLX-AS1 | c.843-2621T>C (n.843-2621T>C) n.292+1276A>G c.486A>G (p.Pro162=) | dbSNP |
| 1 | g.220878573T= | CA1222592117 | HLX-AS1 | c.843-2621T= (n.843-2621T=) n.292+1276A= c.486A= (p.Pro162=) | |
| 1 | g.220878575G>A | CA529297776 | HLX-AS1 | c.843-2619G>A (n.843-2619G>A) n.292+1274C>T c.484C>T (p.Pro162Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878575G= | CA1222592119 | HLX-AS1 | c.843-2619G= (n.843-2619G=) n.292+1274C= c.484C= (p.Pro162=) | |
| 1 | g.220878578G>C | CA529297777 | HLX-AS1 | c.843-2616G>C (n.843-2616G>C) n.292+1271C>G c.481C>G (p.Pro161Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878578G= | CA1222592120 | HLX-AS1 | c.843-2616G= (n.843-2616G=) n.292+1271C= c.481C= (p.Pro161=) | |
| 1 | g.220878579A= | CA1222592121 | HLX-AS1 | c.843-2615A= (n.843-2615A=) n.292+1270T= c.480T= (p.Pro160=) | |
| 1 | g.220878580G>A | CA38028715 | HLX-AS1 | c.843-2614G>A (n.843-2614G>A) n.292+1269C>T c.479C>T (p.Pro160Leu) | dbSNP |
| 1 | g.220878580G= | CA1222592122 | HLX-AS1 | c.843-2614G= (n.843-2614G=) n.292+1269C= c.479C= (p.Pro160=) | |
| 1 | g.220878583dup | CA731844636 | HLX-AS1 | c.843-2611dup (n.843-2611dup) n.292+1269dup c.479dup (p.Pro161SerfsTer?) | dbSNP |
| 1 | g.220878581G>C | CA1222592124 | HLX-AS1 | c.843-2613G>C (n.843-2613G>C) n.292+1268C>G c.478C>G (p.Pro160Ala) | dbSNP |
| 1 | g.220878581G= | CA1222592123 | HLX-AS1 | c.843-2613G= (n.843-2613G=) n.292+1268C= c.478C= (p.Pro160=) | |
| 1 | g.220878582G>A | CA38028717 | HLX-AS1 | c.843-2612G>A (n.843-2612G>A) n.292+1267C>T c.477C>T (p.Thr159=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878582G>C | CA731844642 | HLX-AS1 | c.843-2612G>C (n.843-2612G>C) n.292+1267C>G c.477C>G (p.Thr159=) | dbSNP |
| 1 | g.220878582G= | CA1139997039 | HLX-AS1 | c.843-2612G= (n.843-2612G=) n.292+1267C= c.477C= (p.Thr159=) |