| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.220878396C= | CA1222592042 | HLX-AS1 | c.843-2798C= (n.843-2798C=) n.292+1453G= c.663G= (p.Thr221=) | |
| 1 | g.220878396C>T | CA1222592041 | HLX-AS1 | c.843-2798C>T (n.843-2798C>T) n.292+1453G>A c.663G>A (p.Thr221=) | dbSNP |
| 1 | g.220878397G>A | CA731844558 | HLX-AS1 | c.843-2797G>A (n.843-2797G>A) n.292+1452C>T c.662C>T (p.Thr221Met) | dbSNP |
| 1 | g.220878397G= | CA1222592043 | HLX-AS1 | c.843-2797G= (n.843-2797G=) n.292+1452C= c.662C= (p.Thr221=) | |
| 1 | g.220878398T>C | CA1222592045 | HLX-AS1 | c.843-2796T>C (n.843-2796T>C) n.292+1451A>G c.661A>G (p.Thr221Ala) | dbSNP |
| 1 | g.220878398T= | CA1222592044 | HLX-AS1 | c.843-2796T= (n.843-2796T=) n.292+1451A= c.661A= (p.Thr221=) | |
| 1 | g.220878399T>C | CA731844559 | HLX-AS1 | c.843-2795T>C (n.843-2795T>C) n.292+1450A>G c.660A>G (p.Arg220=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878399T= | CA1222592046 | HLX-AS1 | c.843-2795T= (n.843-2795T=) n.292+1450A= c.660A= (p.Arg220=) | |
| 1 | g.220878401T>C | CA38028674 | HLX-AS1 | c.843-2793T>C (n.843-2793T>C) n.292+1448A>G c.658A>G (p.Arg220Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878401T= | CA1143057100 | HLX-AS1 | c.843-2793T= (n.843-2793T=) n.292+1448A= c.658A= (p.Arg220=) | |
| 1 | g.220878405G>A | CA38028676 | HLX-AS1 | c.843-2789G>A (n.843-2789G>A) n.292+1444C>T c.654C>T (p.Val218=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878405G= | CA1222592047 | HLX-AS1 | c.843-2789G= (n.843-2789G=) n.292+1444C= c.654C= (p.Val218=) | |
| 1 | g.220878406A= | CA1142503353 | HLX-AS1 | c.843-2788A= (n.843-2788A=) n.292+1443T= c.653T= (p.Val218=) | |
| 1 | g.220878406A>G | CA38028678 | HLX-AS1 | c.843-2788A>G (n.843-2788A>G) n.292+1443T>C c.653T>C (p.Val218Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878406A>T | CA1222592048 | HLX-AS1 | c.843-2788A>T (n.843-2788A>T) n.292+1443T>A c.653T>A (p.Val218Asp) | dbSNP |
| 1 | g.220878413G= | CA1222592049 | HLX-AS1 | c.843-2781G= (n.843-2781G=) n.292+1436C= c.646C= (p.Pro216=) | |
| 1 | g.220878413G>T | CA529297768 | HLX-AS1 | c.843-2781G>T (n.843-2781G>T) n.292+1436C>A c.646C>A (p.Pro216Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878416C>T | CA2747847448 | HLX-AS1 | c.843-2778C>T (n.843-2778C>T) n.292+1433G>A c.643G>A (p.Val215Met) | |
| 1 | g.220878417G>A | CA38028681 | HLX-AS1 | c.843-2777G>A (n.843-2777G>A) n.292+1432C>T c.642C>T (p.Phe214=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878417G= | CA1222592050 | HLX-AS1 | c.843-2777G= (n.843-2777G=) n.292+1432C= c.642C= (p.Phe214=) | |
| 1 | g.220878423A= | CA1222592051 | HLX-AS1 | c.843-2771A= (n.843-2771A=) n.292+1426T= c.636T= (p.Leu212=) | |
| 1 | g.220878423A>T | CA1222592052 | HLX-AS1 | c.843-2771A>T (n.843-2771A>T) n.292+1426T>A c.636T>A (p.Leu212=) | dbSNP |
| 1 | g.220878424A= | CA1222592053 | HLX-AS1 | c.843-2770A= (n.843-2770A=) n.292+1425T= c.635T= (p.Leu212=) | |
| 1 | g.220878424A>G | CA731844574 | HLX-AS1 | c.843-2770A>G (n.843-2770A>G) n.292+1425T>C c.635T>C (p.Leu212Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878426A= | CA1222592054 | HLX-AS1 | c.843-2768A= (n.843-2768A=) n.292+1423T= c.633T= (p.Arg211=) | |
| 1 | g.220878426A>G | CA38028683 | HLX-AS1 | c.843-2768A>G (n.843-2768A>G) n.292+1423T>C c.633T>C (p.Arg211=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878427C= | CA1222592055 | HLX-AS1 | c.843-2767C= (n.843-2767C=) n.292+1422G= c.632G= (p.Arg211=) | |
| 1 | g.220878427C>T | CA731844577 | HLX-AS1 | c.843-2767C>T (n.843-2767C>T) n.292+1422G>A c.632G>A (p.Arg211His) | dbSNP |
| 1 | g.220878430T>G | CA1012560154 | HLX-AS1 | c.843-2764T>G (n.843-2764T>G) n.292+1419A>C c.629A>C (p.Gln210Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878430T= | CA1222592056 | HLX-AS1 | c.843-2764T= (n.843-2764T=) n.292+1419A= c.629A= (p.Gln210=) | |
| 1 | g.220878435A= | CA1222592057 | HLX-AS1 | c.843-2759A= (n.843-2759A=) n.292+1414T= c.624T= (p.Gly208=) | |
| 1 | g.220878437dup | CA1222592058 | HLX-AS1 | c.843-2757dup (n.843-2757dup) n.292+1413dup c.623dup (p.Gly209TrpfsTer12) | dbSNP |
| 1 | g.220878439C>A | CA529297769 | HLX-AS1 | c.843-2755C>A (n.843-2755C>A) n.292+1410G>T c.620G>T (p.Arg207Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878439C= | CA1222592059 | HLX-AS1 | c.843-2755C= (n.843-2755C=) n.292+1410G= c.620G= (p.Arg207=) | |
| 1 | g.220878439C>T | CA731844579 | HLX-AS1 | c.843-2755C>T (n.843-2755C>T) n.292+1410G>A c.620G>A (p.Arg207His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878440G>A | CA38028685 | HLX-AS1 | c.843-2754G>A (n.843-2754G>A) n.292+1409C>T c.619C>T (p.Arg207Cys) | dbSNP |
| 1 | g.220878440G= | CA1222592060 | HLX-AS1 | c.843-2754G= (n.843-2754G=) n.292+1409C= c.619C= (p.Arg207=) | |
| 1 | g.220878440G>T | CA1222592061 | HLX-AS1 | c.843-2754G>T (n.843-2754G>T) n.292+1409C>A c.619C>A (p.Arg207Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878440_220878441insA | CA646438207 | HLX-AS1 | c.843-2754_843-2753insA (n.843-2754_843-2753insA) n.292+1408_292+1409insT c.618_619insT (p.Arg207SerfsTer14) | COSMIC |
| 1 | g.220878441C>A | CA731844584 | HLX-AS1 | c.843-2753C>A (n.843-2753C>A) n.292+1408G>T c.618G>T (p.Leu206=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878441C= | CA1222592062 | HLX-AS1 | c.843-2753C= (n.843-2753C=) n.292+1408G= c.618G= (p.Leu206=) | |
| 1 | g.220878443G>C | CA1012560162 | HLX-AS1 | c.843-2751G>C (n.843-2751G>C) n.292+1406C>G c.616C>G (p.Leu206Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878443G= | CA1222592063 | HLX-AS1 | c.843-2751G= (n.843-2751G=) n.292+1406C= c.616C= (p.Leu206=) | |
| 1 | g.220878444C= | CA1222592064 | HLX-AS1 | c.843-2750C= (n.843-2750C=) n.292+1405G= c.615G= (p.Glu205=) | |
| 1 | g.220878444C>T | CA731844585 | HLX-AS1 | c.843-2750C>T (n.843-2750C>T) n.292+1405G>A c.615G>A (p.Glu205=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878449C= | CA1142332999 | HLX-AS1 | c.843-2745C= (n.843-2745C=) n.292+1400G= c.610G= (p.Glu204=) | |
| 1 | g.220878449C>T | CA38028687 | HLX-AS1 | c.843-2745C>T (n.843-2745C>T) n.292+1400G>A c.610G>A (p.Glu204Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878450C= | CA1139997038 | HLX-AS1 | c.843-2744C= (n.843-2744C=) n.292+1399G= c.609G= (p.Gln203=) | |
| 1 | g.220878450C>T | CA10975629 | HLX-AS1 | c.843-2744C>T (n.843-2744C>T) n.292+1399G>A c.609G>A (p.Gln203=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878454A>T | CA2607236462 | HLX-AS1 | c.843-2740A>T (n.843-2740A>T) n.292+1395T>A c.605T>A (p.Leu202Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878455A= | CA1222592065 | HLX-AS1 | c.843-2739A= (n.843-2739A=) n.292+1394T= c.604T= (p.Leu202=) | |
| 1 | g.220878455A>G | CA38028690 | HLX-AS1 | c.843-2739A>G (n.843-2739A>G) n.292+1394T>C c.604T>C (p.Leu202=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878457C= | CA1141184258 | HLX-AS1 | c.843-2737C= (n.843-2737C=) n.292+1392G= c.602G= (p.Trp201=) | |
| 1 | g.220878457C>G | CA38028692 | HLX-AS1 | c.843-2737C>G (n.843-2737C>G) n.292+1392G>C c.602G>C (p.Trp201Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878460G>C | CA1222592068 | HLX-AS1 | c.843-2734G>C (n.843-2734G>C) n.292+1389C>G c.599C>G (p.Ala200Gly) | dbSNP |
| 1 | g.220878460G= | CA1222592066 | HLX-AS1 | c.843-2734G= (n.843-2734G=) n.292+1389C= c.599C= (p.Ala200=) | |
| 1 | g.220878460G>T | CA1222592067 | HLX-AS1 | c.843-2734G>T (n.843-2734G>T) n.292+1389C>A c.599C>A (p.Ala200Asp) | dbSNP |
| 1 | g.220878461C>A | CA1012560170 | HLX-AS1 | c.843-2733C>A (n.843-2733C>A) n.292+1388G>T c.598G>T (p.Ala200Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878461C= | CA1222592069 | HLX-AS1 | c.843-2733C= (n.843-2733C=) n.292+1388G= c.598G= (p.Ala200=) | |
| 1 | g.220878461C>T | CA38028694 | HLX-AS1 | c.843-2733C>T (n.843-2733C>T) n.292+1388G>A c.598G>A (p.Ala200Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.220878464A= | CA1222592070 | HLX-AS1 | c.843-2730A= (n.843-2730A=) n.292+1385T= c.595T= (p.Trp199=) | |
| 1 | g.220878464A>G | CA529297770 | HLX-AS1 | c.843-2730A>G (n.843-2730A>G) n.292+1385T>C c.595T>C (p.Trp199Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878465A= | CA1222592071 | HLX-AS1 | c.843-2729A= (n.843-2729A=) n.292+1384T= c.594T= (p.Pro198=) | |
| 1 | g.220878465A>G | CA1222592072 | HLX-AS1 | c.843-2729A>G (n.843-2729A>G) n.292+1384T>C c.594T>C (p.Pro198=) | dbSNP |
| 1 | g.220878466G>A | CA1222592074 | HLX-AS1 | c.843-2728G>A (n.843-2728G>A) n.292+1383C>T c.593C>T (p.Pro198Leu) | dbSNP |
| 1 | g.220878466G= | CA1222592073 | HLX-AS1 | c.843-2728G= (n.843-2728G=) n.292+1383C= c.593C= (p.Pro198=) | |
| 1 | g.220878468G>A | CA1222592076 | HLX-AS1 | c.843-2726G>A (n.843-2726G>A) n.292+1381C>T c.591C>T (p.Thr197=) | dbSNP |
| 1 | g.220878468G= | CA1222592075 | HLX-AS1 | c.843-2726G= (n.843-2726G=) n.292+1381C= c.591C= (p.Thr197=) | |
| 1 | g.220878469G= | CA1222592077 | HLX-AS1 | c.843-2725G= (n.843-2725G=) n.292+1380C= c.590C= (p.Thr197=) | |
| 1 | g.220878469G>T | CA1222592078 | HLX-AS1 | c.843-2725G>T (n.843-2725G>T) n.292+1380C>A c.590C>A (p.Thr197Asn) | dbSNP |
| 1 | g.220878471T>G | CA38028697 | HLX-AS1 | c.843-2723T>G (n.843-2723T>G) n.292+1378A>C c.588A>C (p.Gly196=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878471T= | CA1222592079 | HLX-AS1 | c.843-2723T= (n.843-2723T=) n.292+1378A= c.588A= (p.Gly196=) | |
| 1 | g.220878474T= | CA1222592080 | HLX-AS1 | c.843-2720T= (n.843-2720T=) n.292+1375A= c.585A= (p.Pro195=) | |
| 1 | g.220878475_220878478delinsGGGG | CA1140586141 | HLX-AS1 | c.843-2719_843-2716delinsGGGG (n.843-2719_843-2716delinsGGGG) n.292+1371_292+1374delinsCCCC c.581_584delinsCCCC (p.Ser194=) | |
| 1 | g.220878478dup | CA38028699 | HLX-AS1 | c.843-2716dup (n.843-2716dup) n.292+1374dup c.584dup (p.Gly196ArgfsTer25) | dbSNP |
| 1 | g.220878476G>A | CA1222592082 | HLX-AS1 | c.843-2718G>A (n.843-2718G>A) n.292+1373C>T c.583C>T (p.Pro195Ser) | dbSNP |
| 1 | g.220878476G= | CA1222592081 | HLX-AS1 | c.843-2718G= (n.843-2718G=) n.292+1373C= c.583C= (p.Pro195=) | |
| 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 |