Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.220878450C=CA1139997038HLX-AS1c.843-2744C= (n.843-2744C=)
n.292+1399G=
c.609G= (p.Gln203=)
1g.220878450C>TCA10975629HLX-AS1c.843-2744C>T (n.843-2744C>T)
n.292+1399G>A
c.609G>A (p.Gln203=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.220878454A>TCA2607236462HLX-AS1c.843-2740A>T (n.843-2740A>T)
n.292+1395T>A
c.605T>A (p.Leu202Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.220878455A=CA1222592065HLX-AS1c.843-2739A= (n.843-2739A=)
n.292+1394T=
c.604T= (p.Leu202=)
1g.220878455A>GCA38028690HLX-AS1c.843-2739A>G (n.843-2739A>G)
n.292+1394T>C
c.604T>C (p.Leu202=)
 dbSNP gnomAD v3 gnomAD v4
1g.220878457C=CA1141184258HLX-AS1c.843-2737C= (n.843-2737C=)
n.292+1392G=
c.602G= (p.Trp201=)
1g.220878457C>GCA38028692HLX-AS1c.843-2737C>G (n.843-2737C>G)
n.292+1392G>C
c.602G>C (p.Trp201Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.220878460G>CCA1222592068HLX-AS1c.843-2734G>C (n.843-2734G>C)
n.292+1389C>G
c.599C>G (p.Ala200Gly)
 dbSNP
1g.220878460G=CA1222592066HLX-AS1c.843-2734G= (n.843-2734G=)
n.292+1389C=
c.599C= (p.Ala200=)
1g.220878460G>TCA1222592067HLX-AS1c.843-2734G>T (n.843-2734G>T)
n.292+1389C>A
c.599C>A (p.Ala200Asp)
 dbSNP
1g.220878461C>ACA1012560170HLX-AS1c.843-2733C>A (n.843-2733C>A)
n.292+1388G>T
c.598G>T (p.Ala200Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.220878461C=CA1222592069HLX-AS1c.843-2733C= (n.843-2733C=)
n.292+1388G=
c.598G= (p.Ala200=)
1g.220878461C>TCA38028694HLX-AS1c.843-2733C>T (n.843-2733C>T)
n.292+1388G>A
c.598G>A (p.Ala200Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.220878464A=CA1222592070HLX-AS1c.843-2730A= (n.843-2730A=)
n.292+1385T=
c.595T= (p.Trp199=)
1g.220878464A>GCA529297770HLX-AS1c.843-2730A>G (n.843-2730A>G)
n.292+1385T>C
c.595T>C (p.Trp199Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.220878465A=CA1222592071HLX-AS1c.843-2729A= (n.843-2729A=)
n.292+1384T=
c.594T= (p.Pro198=)
1g.220878465A>GCA1222592072HLX-AS1c.843-2729A>G (n.843-2729A>G)
n.292+1384T>C
c.594T>C (p.Pro198=)
 dbSNP
1g.220878466G>ACA1222592074HLX-AS1c.843-2728G>A (n.843-2728G>A)
n.292+1383C>T
c.593C>T (p.Pro198Leu)
 dbSNP
1g.220878466G=CA1222592073HLX-AS1c.843-2728G= (n.843-2728G=)
n.292+1383C=
c.593C= (p.Pro198=)
1g.220878468G>ACA1222592076HLX-AS1c.843-2726G>A (n.843-2726G>A)
n.292+1381C>T
c.591C>T (p.Thr197=)
 dbSNP
1g.220878468G=CA1222592075HLX-AS1c.843-2726G= (n.843-2726G=)
n.292+1381C=
c.591C= (p.Thr197=)
1g.220878469G=CA1222592077HLX-AS1c.843-2725G= (n.843-2725G=)
n.292+1380C=
c.590C= (p.Thr197=)
1g.220878469G>TCA1222592078HLX-AS1c.843-2725G>T (n.843-2725G>T)
n.292+1380C>A
c.590C>A (p.Thr197Asn)
 dbSNP
1g.220878471T>GCA38028697HLX-AS1c.843-2723T>G (n.843-2723T>G)
n.292+1378A>C
c.588A>C (p.Gly196=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.220878471T=CA1222592079HLX-AS1c.843-2723T= (n.843-2723T=)
n.292+1378A=
c.588A= (p.Gly196=)
1g.220878474T=CA1222592080HLX-AS1c.843-2720T= (n.843-2720T=)
n.292+1375A=
c.585A= (p.Pro195=)
1g.220878475_220878478delinsGGGGCA1140586141HLX-AS1c.843-2719_843-2716delinsGGGG (n.843-2719_843-2716delinsGGGG)
n.292+1371_292+1374delinsCCCC
c.581_584delinsCCCC (p.Ser194=)
1g.220878478dupCA38028699HLX-AS1c.843-2716dup (n.843-2716dup)
n.292+1374dup
c.584dup (p.Gly196ArgfsTer25)
 dbSNP
1g.220878476G>ACA1222592082HLX-AS1c.843-2718G>A (n.843-2718G>A)
n.292+1373C>T
c.583C>T (p.Pro195Ser)
 dbSNP
1g.220878476G=CA1222592081HLX-AS1c.843-2718G= (n.843-2718G=)
n.292+1373C=
c.583C= (p.Pro195=)
1g.220878483T>ACA1222592084HLX-AS1c.843-2711T>A (n.843-2711T>A)
n.292+1366A>T
c.576A>T (p.Thr192=)
 dbSNP
1g.220878483T>CCA2552762604HLX-AS1c.843-2711T>C (n.843-2711T>C)
n.292+1366A>G
c.576A>G (p.Thr192=)
1g.220878483T=CA1222592083HLX-AS1c.843-2711T= (n.843-2711T=)
n.292+1366A=
c.576A= (p.Thr192=)
1g.220878490G>ACA731844595HLX-AS1c.843-2704G>A (n.843-2704G>A)
n.292+1359C>T
c.569C>T (p.Ser190Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.220878490G=CA1222592085HLX-AS1c.843-2704G= (n.843-2704G=)
n.292+1359C=
c.569C= (p.Ser190=)
1g.220878491_220878503delinsAATTGAAAGCAGTCA1222592086HLX-AS1c.843-2703_843-2691delinsAATTGAAAGCAGT (n.843-2703_843-2691delinsAATTGAAAGCAGT)
n.292+1346_292+1358delinsACTGCTTTCAATT
c.556_568delinsACTGCTTTCAATT (p.Thr186=)
1g.220878498_220878509delCA1222592087HLX-AS1c.843-2696_843-2685del (n.843-2696_843-2685del)
n.292+1346_292+1357del
c.556_567del (p.Thr186_Asn189del)
 dbSNP
1g.220878493T>CCA2698211496HLX-AS1c.843-2701T>C (n.843-2701T>C)
n.292+1356A>G
c.566A>G (p.Asn189Ser)
 dbSNP
1g.220878495G=CA1222592088HLX-AS1c.843-2699G= (n.843-2699G=)
n.292+1354C=
c.564C= (p.Phe188=)
1g.220878495G>TCA1222592089HLX-AS1c.843-2699G>T (n.843-2699G>T)
n.292+1354C>A
c.564C>A (p.Phe188Leu)
 dbSNP
1g.220878498A=CA1222592090HLX-AS1c.843-2696A= (n.843-2696A=)
n.292+1351T=
c.561T= (p.Ala187=)
1g.220878498A>GCA1222592091HLX-AS1c.843-2696A>G (n.843-2696A>G)
n.292+1351T>C
c.561T>C (p.Ala187=)
 dbSNP
1g.220878499G>CCA38028701HLX-AS1c.843-2695G>C (n.843-2695G>C)
n.292+1350C>G
c.560C>G (p.Ala187Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.220878499G=CA1222592092HLX-AS1c.843-2695G= (n.843-2695G=)
n.292+1350C=
c.560C= (p.Ala187=)
1g.220878503T>ACA529297771HLX-AS1c.843-2691T>A (n.843-2691T>A)
n.292+1346A>T
c.556A>T (p.Thr186Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.220878503T=CA1222592093HLX-AS1c.843-2691T= (n.843-2691T=)
n.292+1346A=
c.556A= (p.Thr186=)
1g.220878506T>CCA38028703HLX-AS1c.843-2688T>C (n.843-2688T>C)
n.292+1343A>G
c.553A>G (p.Asn185Asp)
 dbSNP
1g.220878506T=CA1222592094HLX-AS1c.843-2688T= (n.843-2688T=)
n.292+1343A=
c.553A= (p.Asn185=)
1g.220878511C=CA1222592095HLX-AS1c.843-2683C= (n.843-2683C=)
n.292+1338G=
c.548G= (p.Gly183=)
1g.220878511C>GCA731844600HLX-AS1c.843-2683C>G (n.843-2683C>G)
n.292+1338G>C
c.548G>C (p.Gly183Ala)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched