OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.23802434_23802436del | CA521646984 | HMGCL | c.*31_*33del (n.*31_*33del) c.579_581del c.*1050_*1052del (n.*1050_*1052del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.23802433C>T | CA2644083753 | HMGCL | c.*30G>A (n.*30G>A) c.578G>A c.*1049G>A (n.*1049G>A) | gnomAD v4 |
| 1 | g.23802434A>G | CA645691270 | HMGCL | c.*29T>C (n.*29T>C) c.577T>C c.*1048T>C (n.*1048T>C) | COSMIC |
| 1 | g.23802435del | CA2644083754 | HMGCL | c.*28del (n.*28del) c.576del c.*1047del (n.*1047del) | dbSNP gnomAD v4 |
| 1 | g.23802435T>C | CA2644083755 | HMGCL | c.*28A>G (n.*28A>G) c.576A>G c.*1047A>G (n.*1047A>G) | gnomAD v4 |
| 1 | g.23802436C>T | CA2574263764 | HMGCL | c.*27G>A (n.*27G>A) c.575G>A c.*1046G>A (n.*1046G>A) | gnomAD v4 |
| 1 | g.23802439del | CA2644083756 | HMGCL | c.*27del (n.*27del) c.575del c.*1046del (n.*1046del) | gnomAD v4 |
| 1 | g.23802437C>T | CA2644083757 | HMGCL | c.*26G>A (n.*26G>A) c.574G>A c.*1045G>A (n.*1045G>A) | gnomAD v4 |
| 1 | g.23802438C>T | CA2644083759 | HMGCL | c.*25G>A (n.*25G>A) c.573G>A c.*1044G>A (n.*1044G>A) | gnomAD v4 |
| 1 | g.23802439C>T | CA2644083761 | HMGCL | c.*24G>A (n.*24G>A) c.572G>A c.*1043G>A (n.*1043G>A) | gnomAD v4 |
| 1 | g.23802440A>G | CA2644083762 | HMGCL | c.*23T>C (n.*23T>C) c.571T>C c.*1042T>C (n.*1042T>C) | gnomAD v4 |
| 1 | g.23802440A>T | CA2644083763 | HMGCL | c.*23T>A (n.*23T>A) c.571T>A c.*1042T>A (n.*1042T>A) | gnomAD v4 |
| 1 | g.23802441G>A | CA2644083764 | HMGCL | c.*22C>T (n.*22C>T) c.570C>T c.*1041C>T (n.*1041C>T) | gnomAD v4 |
| 1 | g.23802441G>C | CA521646990 | HMGCL | c.*22C>G (n.*22C>G) c.570C>G c.*1041C>G (n.*1041C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.23802441G= | CA1158963493 | HMGCL | c.*22C= (n.*22C=) c.570C= c.*1041C= (n.*1041C=) | |
| 1 | g.23802441G>T | CA2644083765 | HMGCL | c.*22C>A (n.*22C>A) c.570C>A c.*1041C>A (n.*1041C>A) | gnomAD v4 |
| 1 | g.23802442G>T | CA2644083766 | HMGCL | c.*21C>A (n.*21C>A) c.569C>A c.*1040C>A (n.*1040C>A) | gnomAD v4 |
| 1 | g.23802443G>A | CA2644083767 | HMGCL | c.*20C>T (n.*20C>T) c.568C>T c.*1039C>T (n.*1039C>T) | gnomAD v4 |
| 1 | g.23802443G>T | CA2574263765 | HMGCL | c.*20C>A (n.*20C>A) c.568C>A c.*1039C>A (n.*1039C>A) | gnomAD v4 |
| 1 | g.23802445T>A | CA2644083768 | HMGCL | c.*18A>T (n.*18A>T) c.566A>T c.*1037A>T (n.*1037A>T) | gnomAD v4 |
| 1 | g.23802445T>C | CA2644083769 | HMGCL | c.*18A>G (n.*18A>G) c.566A>G c.*1037A>G (n.*1037A>G) | gnomAD v4 |
| 1 | g.23802447C>A | CA685840 | HMGCL | c.*16G>T (n.*16G>T) c.564G>T c.*1035G>T (n.*1035G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802447C= | CA1158963494 | HMGCL | c.*16G= (n.*16G=) c.564G= c.*1035G= (n.*1035G=) | |
| 1 | g.23802447C>T | CA2574263766 | HMGCL | c.*16G>A (n.*16G>A) c.564G>A c.*1035G>A (n.*1035G>A) | gnomAD v4 |
| 1 | g.23802448A>G | CA2644083770 | HMGCL | c.*15T>C (n.*15T>C) c.563T>C c.*1034T>C (n.*1034T>C) | gnomAD v4 |
| 1 | g.23802448A>T | CA2574263767 | HMGCL | c.*15T>A (n.*15T>A) c.563T>A c.*1034T>A (n.*1034T>A) | gnomAD v4 |
| 1 | g.23802449G>A | CA2644083772 | HMGCL | c.*14C>T (n.*14C>T) c.562C>T c.*1033C>T (n.*1033C>T) | gnomAD v4 |
| 1 | g.23802449G>C | CA999572511 | HMGCL | c.*14C>G (n.*14C>G) c.562C>G c.*1033C>G (n.*1033C>G) | gnomAD v3 gnomAD v4 |
| 1 | g.23802449G>T | CA2574263768 | HMGCL | c.*14C>A (n.*14C>A) c.562C>A c.*1033C>A (n.*1033C>A) | gnomAD v4 |
| 1 | g.23802450G>A | CA733290262 | HMGCL | c.*13C>T (n.*13C>T) c.561C>T c.*1032C>T (n.*1032C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.23802450G= | CA1158963495 | HMGCL | c.*13C= (n.*13C=) c.561C= c.*1032C= (n.*1032C=) | |
| 1 | g.23802450G>T | CA2644083773 | HMGCL | c.*13C>A (n.*13C>A) c.561C>A c.*1032C>A (n.*1032C>A) | gnomAD v4 |
| 1 | g.23802452G>A | CA1158963497 | HMGCL | c.*11C>T (n.*11C>T) c.559C>T c.*1030C>T (n.*1030C>T) | dbSNP gnomAD v4 |
| 1 | g.23802452G= | CA1158963496 | HMGCL | c.*11C= (n.*11C=) c.559C= c.*1030C= (n.*1030C=) | |
| 1 | g.23802452G>T | CA2644083776 | HMGCL | c.*11C>A (n.*11C>A) c.559C>A c.*1030C>A (n.*1030C>A) | gnomAD v4 |
| 1 | g.23802454del | CA2574263770 | HMGCL | c.*11del (n.*11del) c.559del c.*1030del (n.*1030del) | gnomAD v4 |
| 1 | g.23802453_23802454del | CA2574263769 | HMGCL | c.*10_*11del (n.*10_*11del) c.558_559del c.*1029_*1030del (n.*1029_*1030del) | gnomAD v4 |
| 1 | g.23802453G>A | CA2644083779 | HMGCL | c.*10C>T (n.*10C>T) c.558C>T c.*1029C>T (n.*1029C>T) | gnomAD v4 |
| 1 | g.23802453G>T | CA2644083781 | HMGCL | c.*10C>A (n.*10C>A) c.558C>A c.*1029C>A (n.*1029C>A) | gnomAD v4 |
| 1 | g.23802454G>A | CA2574263771 | HMGCL | c.*9C>T (n.*9C>T) c.557C>T c.*1028C>T (n.*1028C>T) | gnomAD v4 |
| 1 | g.23802454G>T | CA2574263772 | HMGCL | c.*9C>A (n.*9C>A) c.557C>A c.*1028C>A (n.*1028C>A) | gnomAD v4 |
| 1 | g.23802455C>A | CA685842 | HMGCL | c.*8G>T (n.*8G>T) c.556G>T c.*1027G>T (n.*1027G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802455C= | CA1158963498 | HMGCL | c.*8G= (n.*8G=) c.556G= c.*1027G= (n.*1027G=) | |
| 1 | g.23802455C>T | CA2644083782 | HMGCL | c.*8G>A (n.*8G>A) c.556G>A c.*1027G>A (n.*1027G>A) | gnomAD v4 |
| 1 | g.23802455_23802456delinsCA | CA1158963499 | HMGCL | c.*7_*8delinsTG (n.*7_*8delinsTG) c.555_556delinsTG c.*1026_*1027delinsTG (n.*1026_*1027delinsTG) | |
| 1 | g.23802457del | CA685841 | HMGCL | c.*7del (n.*7del) c.555del c.*1026del (n.*1026del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.23802457A= | CA1143534883 | HMGCL | c.*6T= (n.*6T=) c.554T= c.*1025T= (n.*1025T=) | |
| 1 | g.23802457A>G | CA19286674 | HMGCL | c.*6T>C (n.*6T>C) c.554T>C c.*1025T>C (n.*1025T>C) | dbSNP gnomAD v4 |
| 1 | g.23802458G>A | CA999572518 | HMGCL | c.*5C>T (n.*5C>T) c.553C>T c.*1024C>T (n.*1024C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.23802458G= | CA1158963500 | HMGCL | c.*5C= (n.*5C=) c.553C= c.*1024C= (n.*1024C=) | |
| 1 | g.23802458G>T | CA2574263773 | HMGCL | c.*5C>A (n.*5C>A) c.553C>A c.*1024C>A (n.*1024C>A) | gnomAD v4 |
| 1 | g.23802461dup | CA2644083783 | HMGCL | c.*5dup (n.*5dup) c.553dup c.*1024dup (n.*1024dup) | gnomAD v4 |
| 1 | g.23802459G>A | CA2644083784 | HMGCL | c.*4C>T (n.*4C>T) c.552C>T c.*1023C>T (n.*1023C>T) | gnomAD v4 |
| 1 | g.23802459G>T | CA2644083785 | HMGCL | c.*4C>A (n.*4C>A) c.552C>A c.*1023C>A (n.*1023C>A) | gnomAD v4 |
| 1 | g.23802460G>A | CA1158963502 | HMGCL | c.*3C>T (n.*3C>T) c.551C>T c.*1022C>T (n.*1022C>T) | dbSNP gnomAD v4 |
| 1 | g.23802460G= | CA1158963501 | HMGCL | c.*3C= (n.*3C=) c.551C= c.*1022C= (n.*1022C=) | |
| 1 | g.23802460G>T | CA2644083787 | HMGCL | c.*3C>A (n.*3C>A) c.551C>A c.*1022C>A (n.*1022C>A) | gnomAD v4 |
| 1 | g.23802461G>A | CA2644083788 | HMGCL | c.*2C>T (n.*2C>T) c.550C>T c.*1021C>T (n.*1021C>T) | gnomAD v4 |
| 1 | g.23802461G>C | CA2644083789 | HMGCL | c.*2C>G (n.*2C>G) c.550C>G c.*1021C>G (n.*1021C>G) | gnomAD v4 |
| 1 | g.23802461G= | CA1158963503 | HMGCL | c.*2C= (n.*2C=) c.550C= c.*1021C= (n.*1021C=) | |
| 1 | g.23802461G>T | CA521646998 | HMGCL | c.*2C>A (n.*2C>A) c.550C>A c.*1021C>A (n.*1021C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.23802462C= | CA1158963504 | HMGCL | c.*1G= (n.*1G=) c.549G= c.*1020G= (n.*1020G=) | |
| 1 | g.23802462C>G | CA685843 | HMGCL | c.*1G>C (n.*1G>C) c.549G>C c.*1020G>C (n.*1020G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.23802462C>T | CA2644083791 | HMGCL | c.*1G>A (n.*1G>A) c.549G>A c.*1020G>A (n.*1020G>A) | gnomAD v4 |
| 1 | g.23802463T>A | CA339019102 | HMGCL | c.978A>T (p.Ter326Cys) c.548A>T c.*1019A>T (n.*1019A>T) c.765A>T (p.Ter255Cys) | |
| 1 | g.23802463T>C | CA339019101 | HMGCL | c.978A>G (p.Ter326Trp) c.548A>G c.*1019A>G (n.*1019A>G) c.765A>G (p.Ter255Trp) | gnomAD v4 |
| 1 | g.23802463T>G | CA339019098 | HMGCL | c.978A>C (p.Ter326Cys) c.548A>C c.*1019A>C (n.*1019A>C) c.765A>C (p.Ter255Cys) | |
| 1 | g.23802464C>A | CA339019107 | HMGCL | c.977G>T (p.Ter326Leu) c.547G>T c.*1018G>T (n.*1018G>T) c.764G>T (p.Ter255Leu) | |
| 1 | g.23802464C= | CA1158963505 | HMGCL | c.977G= (p.Ter326=) c.547G= c.*1018G= (n.*1018G=) c.764G= (p.Ter255=) | |
| 1 | g.23802464C>G | CA339019113 | HMGCL | c.977G>C (p.Ter326Ser) c.547G>C c.*1018G>C (n.*1018G>C) c.764G>C (p.Ter255Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.23802464C>T | CA416616335 | HMGCL | c.977G>A (p.Ter326=) c.547G>A c.*1018G>A (n.*1018G>A) c.764G>A (p.Ter255=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.23802465A= | CA1158963506 | HMGCL | c.976T= (p.Ter326=) c.546T= c.*1017T= (n.*1017T=) c.763T= (p.Ter255=) | |
| 1 | g.23802465A>C | CA339019115 | HMGCL | c.976T>G (p.Ter326Gly) c.546T>G c.*1017T>G (n.*1017T>G) c.763T>G (p.Ter255Gly) | |
| 1 | g.23802465A>G | CA339019116 | HMGCL | c.976T>C (p.Ter326Arg) c.546T>C c.*1017T>C (n.*1017T>C) c.763T>C (p.Ter255Arg) | ClinVar dbSNP |
| 1 | g.23802465A>T | CA339019117 | HMGCL | c.976T>A (p.Ter326Arg) c.546T>A c.*1017T>A (n.*1017T>A) c.763T>A (p.Ter255Arg) | |
| 1 | g.23802467_23802468del | CA2499306746 | HMGCL | c.975_976del (p.Ter326SerextTer6) c.545_546del c.*1016_*1017del (n.*1016_*1017del) c.762_763del (p.Ter255SerextTer6) | |
| 1 | g.23802466G>A | CA416616342 | HMGCL | c.975C>T (p.Leu325=) c.545C>T c.*1016C>T (n.*1016C>T) c.762C>T (p.Leu254=) | gnomAD v4 |
| 1 | g.23802466G>C | CA416616345 | HMGCL | c.975C>G (p.Leu325=) c.545C>G c.*1016C>G (n.*1016C>G) c.762C>G (p.Leu254=) | |
| 1 | g.23802466G>T | CA416616347 | HMGCL | c.975C>A (p.Leu325=) c.545C>A c.*1016C>A (n.*1016C>A) c.762C>A (p.Leu254=) | |
| 1 | g.23802467A>C | CA339019120 | HMGCL | c.974T>G (p.Leu325Arg) c.544T>G c.*1015T>G (n.*1015T>G) c.761T>G (p.Leu254Arg) | |
| 1 | g.23802467A>G | CA339019122 | HMGCL | c.974T>C (p.Leu325Pro) c.544T>C c.*1015T>C (n.*1015T>C) c.761T>C (p.Leu254Pro) | |
| 1 | g.23802467A>T | CA339019127 | HMGCL | c.974T>A (p.Leu325His) c.544T>A c.*1015T>A (n.*1015T>A) c.761T>A (p.Leu254His) | |
| 1 | g.23802468G>A | CA339019131 | HMGCL | c.973C>T (p.Leu325Phe) c.543C>T c.*1014C>T (n.*1014C>T) c.760C>T (p.Leu254Phe) | |
| 1 | g.23802468G>C | CA339019134 | HMGCL | c.973C>G (p.Leu325Val) c.543C>G c.*1014C>G (n.*1014C>G) c.760C>G (p.Leu254Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.23802468G= | CA1158963507 | HMGCL | c.973C= (p.Leu325=) c.543C= c.*1014C= (n.*1014C=) c.760C= (p.Leu254=) | |
| 1 | g.23802468G>T | CA339019138 | HMGCL | c.973C>A (p.Leu325Ile) c.543C>A c.*1014C>A (n.*1014C>A) c.760C>A (p.Leu254Ile) | gnomAD v4 |
| 1 | g.23802469T>A | CA339019146 | HMGCL | c.972A>T (p.Lys324Asn) c.542A>T c.*1013A>T (n.*1013A>T) c.759A>T (p.Lys253Asn) | |
| 1 | g.23802469T>C | CA416616360 | HMGCL | c.972A>G (p.Lys324=) c.542A>G c.*1013A>G (n.*1013A>G) c.759A>G (p.Lys253=) | |
| 1 | g.23802469T>G | CA339019148 | HMGCL | c.972A>C (p.Lys324Asn) c.542A>C c.*1013A>C (n.*1013A>C) c.759A>C (p.Lys253Asn) | |
| 1 | g.23802470T>A | CA339019158 | HMGCL | c.971A>T (p.Lys324Ile) c.541A>T c.*1012A>T (n.*1012A>T) c.758A>T (p.Lys253Ile) | |
| 1 | g.23802470T>C | CA339019153 | HMGCL | c.971A>G (p.Lys324Arg) c.541A>G c.*1012A>G (n.*1012A>G) c.758A>G (p.Lys253Arg) | gnomAD v4 |
| 1 | g.23802470T>G | CA339019150 | HMGCL | c.971A>C (p.Lys324Thr) c.541A>C c.*1012A>C (n.*1012A>C) c.758A>C (p.Lys253Thr) | |
| 1 | g.23802471T>A | CA339019160 | HMGCL | c.970A>T (p.Lys324Ter) c.540A>T c.*1011A>T (n.*1011A>T) c.757A>T (p.Lys253Ter) | |
| 1 | g.23802471T>C | CA339019162 | HMGCL | c.970A>G (p.Lys324Glu) c.540A>G c.*1011A>G (n.*1011A>G) c.757A>G (p.Lys253Glu) | gnomAD v4 |
| 1 | g.23802471T>G | CA339019165 | HMGCL | c.970A>C (p.Lys324Gln) c.540A>C c.*1011A>C (n.*1011A>C) c.757A>C (p.Lys253Gln) | |
| 1 | g.23802472A>C | CA339019175 | HMGCL | c.969T>G (p.Cys323Trp) c.539T>G c.*1010T>G (n.*1010T>G) c.756T>G (p.Cys252Trp) | |
| 1 | g.23802472A>G | CA416616376 | HMGCL | c.969T>C (p.Cys323=) c.539T>C c.*1010T>C (n.*1010T>C) c.756T>C (p.Cys252=) | ClinVar dbSNP |
| 1 | g.23802472A>T | CA339019177 | HMGCL | c.969T>A (p.Cys323Ter) c.539T>A c.*1010T>A (n.*1010T>A) c.756T>A (p.Cys252Ter) | |
| 1 | g.23802473C>A | CA339019180 | HMGCL | c.968G>T (p.Cys323Phe) c.538G>T c.*1009G>T (n.*1009G>T) c.755G>T (p.Cys252Phe) | |
| 1 | g.23802473C>G | CA339019181 | HMGCL | c.968G>C (p.Cys323Ser) c.538G>C c.*1009G>C (n.*1009G>C) c.755G>C (p.Cys252Ser) | |
| 1 | g.23802473C>T | CA339019182 | HMGCL | c.968G>A (p.Cys323Tyr) c.538G>A c.*1009G>A (n.*1009G>A) c.755G>A (p.Cys252Tyr) | |
| 1 | g.23802474A>C | CA339019184 | HMGCL | c.967T>G (p.Cys323Gly) c.537T>G c.*1008T>G (n.*1008T>G) c.754T>G (p.Cys252Gly) | |
| 1 | g.23802474A>G | CA339019187 | HMGCL | c.967T>C (p.Cys323Arg) c.537T>C c.*1008T>C (n.*1008T>C) c.754T>C (p.Cys252Arg) | |
| 1 | g.23802474A>T | CA339019200 | HMGCL | c.967T>A (p.Cys323Ser) c.537T>A c.*1008T>A (n.*1008T>A) c.754T>A (p.Cys252Ser) | |
| 1 | g.23802475G>A | CA416616390 | HMGCL | c.966C>T (p.Thr322=) c.536C>T c.*1007C>T (n.*1007C>T) c.753C>T (p.Thr251=) | dbSNP |
| 1 | g.23802475G>C | CA416616393 | HMGCL | c.966C>G (p.Thr322=) c.536C>G c.*1007C>G (n.*1007C>G) c.753C>G (p.Thr251=) | ClinVar |
| 1 | g.23802475G= | CA1158963508 | HMGCL | c.966C= (p.Thr322=) c.536C= c.*1007C= (n.*1007C=) c.753C= (p.Thr251=) | |
| 1 | g.23802475G>T | CA416616404 | HMGCL | c.966C>A (p.Thr322=) c.536C>A c.*1007C>A (n.*1007C>A) c.753C>A (p.Thr251=) | |
| 1 | g.23802476G>A | CA685844 | HMGCL | c.965C>T (p.Thr322Ile) c.535C>T c.*1006C>T (n.*1006C>T) c.752C>T (p.Thr251Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802476G>C | CA339019205 | HMGCL | c.965C>G (p.Thr322Ser) c.535C>G c.*1006C>G (n.*1006C>G) c.752C>G (p.Thr251Ser) | |
| 1 | g.23802476G= | CA1158963509 | HMGCL | c.965C= (p.Thr322=) c.535C= c.*1006C= (n.*1006C=) c.752C= (p.Thr251=) | |
| 1 | g.23802476G>T | CA339019207 | HMGCL | c.965C>A (p.Thr322Asn) c.535C>A c.*1006C>A (n.*1006C>A) c.752C>A (p.Thr251Asn) | |
| 1 | g.23802477T>A | CA339019212 | HMGCL | c.964A>T (p.Thr322Ser) c.534A>T c.*1005A>T (n.*1005A>T) c.751A>T (p.Thr251Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.23802477T>C | CA19286679 | HMGCL | c.964A>G (p.Thr322Ala) c.534A>G c.*1005A>G (n.*1005A>G) c.751A>G (p.Thr251Ala) | dbSNP gnomAD v4 |
| 1 | g.23802477T>G | CA339019210 | HMGCL | c.964A>C (p.Thr322Pro) c.534A>C c.*1005A>C (n.*1005A>C) c.751A>C (p.Thr251Pro) | |
| 1 | g.23802477T= | CA1158963510 | HMGCL | c.964A= (p.Thr322=) c.534A= c.*1005A= (n.*1005A=) c.751A= (p.Thr251=) | |
| 1 | g.23802478A>C | CA416616415 | HMGCL | c.963T>G (p.Ala321=) c.533T>G c.*1004T>G (n.*1004T>G) c.750T>G (p.Ala250=) | |
| 1 | g.23802478A>G | CA416616420 | HMGCL | c.963T>C (p.Ala321=) c.533T>C c.*1004T>C (n.*1004T>C) c.750T>C (p.Ala250=) | |
| 1 | g.23802478A>T | CA416616419 | HMGCL | c.963T>A (p.Ala321=) c.533T>A c.*1004T>A (n.*1004T>A) c.750T>A (p.Ala250=) | |
| 1 | g.23802479G>A | CA339019216 | HMGCL | c.962C>T (p.Ala321Val) c.532C>T c.*1003C>T (n.*1003C>T) c.749C>T (p.Ala250Val) | |
| 1 | g.23802479G>C | CA339019221 | HMGCL | c.962C>G (p.Ala321Gly) c.532C>G c.*1003C>G (n.*1003C>G) c.749C>G (p.Ala250Gly) | |
| 1 | g.23802479G>T | CA339019226 | HMGCL | c.962C>A (p.Ala321Asp) c.532C>A c.*1003C>A (n.*1003C>A) c.749C>A (p.Ala250Asp) | ClinVar |
| 1 | g.23802480C>A | CA339019228 | HMGCL | c.961G>T (p.Ala321Ser) c.531G>T c.*1002G>T (n.*1002G>T) c.748G>T (p.Ala250Ser) | |
| 1 | g.23802480C= | CA1158963511 | HMGCL | c.961G= (p.Ala321=) c.531G= c.*1002G= (n.*1002G=) c.748G= (p.Ala250=) | |
| 1 | g.23802480C>G | CA339019232 | HMGCL | c.961G>C (p.Ala321Pro) c.531G>C c.*1002G>C (n.*1002G>C) c.748G>C (p.Ala250Pro) | |
| 1 | g.23802480C>T | CA685845 | HMGCL | c.961G>A (p.Ala321Thr) c.531G>A c.*1002G>A (n.*1002G>A) c.748G>A (p.Ala250Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802481C>A | CA339019234 | HMGCL | c.960G>T (p.Gln320His) c.530G>T c.*1001G>T (n.*1001G>T) c.747G>T (p.Gln249His) | |
| 1 | g.23802481C= | CA1158963512 | HMGCL | c.960G= (p.Gln320=) c.530G= c.*1001G= (n.*1001G=) c.747G= (p.Gln249=) | |
| 1 | g.23802481C>G | CA339019238 | HMGCL | c.960G>C (p.Gln320His) c.530G>C c.*1001G>C (n.*1001G>C) c.747G>C (p.Gln249His) | |
| 1 | g.23802481C>T | CA685846 | HMGCL | c.960G>A (p.Gln320=) c.530G>A c.*1001G>A (n.*1001G>A) c.747G>A (p.Gln249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802482T>A | CA339019245 | HMGCL | c.959A>T (p.Gln320Leu) c.529A>T c.*1000A>T (n.*1000A>T) c.746A>T (p.Gln249Leu) | |
| 1 | g.23802482T>C | CA339019252 | HMGCL | c.959A>G (p.Gln320Arg) c.529A>G c.*1000A>G (n.*1000A>G) c.746A>G (p.Gln249Arg) | |
| 1 | g.23802482T>G | CA339019257 | HMGCL | c.959A>C (p.Gln320Pro) c.529A>C c.*1000A>C (n.*1000A>C) c.746A>C (p.Gln249Pro) | |
| 1 | g.23802483G>A | CA339019263 | HMGCL | c.958C>T (p.Gln320Ter) c.528C>T c.*999C>T (n.*999C>T) c.745C>T (p.Gln249Ter) | ClinVar dbSNP |
| 1 | g.23802483G>C | CA339019259 | HMGCL | c.958C>G (p.Gln320Glu) c.528C>G c.*999C>G (n.*999C>G) c.745C>G (p.Gln249Glu) | |
| 1 | g.23802483G= | CA1158963513 | HMGCL | c.958C= (p.Gln320=) c.528C= c.*999C= (n.*999C=) c.745C= (p.Gln249=) | |
| 1 | g.23802483G>T | CA339019261 | HMGCL | c.958C>A (p.Gln320Lys) c.528C>A c.*999C>A (n.*999C>A) c.745C>A (p.Gln249Lys) | |
| 1 | g.23802484A>C | CA416616457 | HMGCL | c.957T>G (p.Ala319=) c.527T>G c.*998T>G (n.*998T>G) c.744T>G (p.Ala248=) | |
| 1 | g.23802484A>G | CA416616460 | HMGCL | c.957T>C (p.Ala319=) c.527T>C c.*998T>C (n.*998T>C) c.744T>C (p.Ala248=) | |
| 1 | g.23802484A>T | CA416616463 | HMGCL | c.957T>A (p.Ala319=) c.527T>A c.*998T>A (n.*998T>A) c.744T>A (p.Ala248=) | |
| 1 | g.23802485G>A | CA339019272 | HMGCL | c.956C>T (p.Ala319Val) c.526C>T c.*997C>T (n.*997C>T) c.743C>T (p.Ala248Val) | gnomAD v4 |
| 1 | g.23802485G>C | CA339019288 | HMGCL | c.956C>G (p.Ala319Gly) c.526C>G c.*997C>G (n.*997C>G) c.743C>G (p.Ala248Gly) | |
| 1 | g.23802485G>T | CA339019290 | HMGCL | c.956C>A (p.Ala319Asp) c.526C>A c.*997C>A (n.*997C>A) c.743C>A (p.Ala248Asp) | |
| 1 | g.23802486C>A | CA339019298 | HMGCL | c.955G>T (p.Ala319Ser) c.525G>T c.*996G>T (n.*996G>T) c.742G>T (p.Ala248Ser) | |
| 1 | g.23802486C= | CA1158963514 | HMGCL | c.955G= (p.Ala319=) c.525G= c.*996G= (n.*996G=) c.742G= (p.Ala248=) | |
| 1 | g.23802486C>G | CA685847 | HMGCL | c.955G>C (p.Ala319Pro) c.525G>C c.*996G>C (n.*996G>C) c.742G>C (p.Ala248Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802486C>T | CA339019305 | HMGCL | c.955G>A (p.Ala319Thr) c.525G>A c.*996G>A (n.*996G>A) c.742G>A (p.Ala248Thr) | |
| 1 | g.23802487C>A | CA416616482 | HMGCL | c.954G>T (p.Val318=) c.524G>T c.*995G>T (n.*995G>T) c.741G>T (p.Val247=) | |
| 1 | g.23802487C>G | CA416616484 | HMGCL | c.954G>C (p.Val318=) c.524G>C c.*995G>C (n.*995G>C) c.741G>C (p.Val247=) | |
| 1 | g.23802487C>T | CA416616487 | HMGCL | c.954G>A (p.Val318=) c.524G>A c.*995G>A (n.*995G>A) c.741G>A (p.Val247=) | |
| 1 | g.23802488A>C | CA339019309 | HMGCL | c.953T>G (p.Val318Gly) c.523T>G c.*994T>G (n.*994T>G) c.740T>G (p.Val247Gly) | |
| 1 | g.23802488A>G | CA339019310 | HMGCL | c.953T>C (p.Val318Ala) c.523T>C c.*994T>C (n.*994T>C) c.740T>C (p.Val247Ala) | |
| 1 | g.23802488A>T | CA339019311 | HMGCL | c.953T>A (p.Val318Glu) c.523T>A c.*994T>A (n.*994T>A) c.740T>A (p.Val247Glu) | |
| 1 | g.23802489C>A | CA339019312 | HMGCL | c.952G>T (p.Val318Leu) c.522G>T c.*993G>T (n.*993G>T) c.739G>T (p.Val247Leu) | |
| 1 | g.23802489C>G | CA339019314 | HMGCL | c.952G>C (p.Val318Leu) c.522G>C c.*993G>C (n.*993G>C) c.739G>C (p.Val247Leu) | |
| 1 | g.23802489C>T | CA339019326 | HMGCL | c.952G>A (p.Val318Met) c.522G>A c.*993G>A (n.*993G>A) c.739G>A (p.Val247Met) | |
| 1 | g.23802490T>A | CA339019328 | HMGCL | c.951A>T (p.Lys317Asn) c.521A>T c.*992A>T (n.*992A>T) c.738A>T (p.Lys246Asn) | |
| 1 | g.23802490T>C | CA416616510 | HMGCL | c.951A>G (p.Lys317=) c.521A>G c.*992A>G (n.*992A>G) c.738A>G (p.Lys246=) | |
| 1 | g.23802490T>G | CA339019330 | HMGCL | c.951A>C (p.Lys317Asn) c.521A>C c.*992A>C (n.*992A>C) c.738A>C (p.Lys246Asn) | |
| 1 | g.23802491T>A | CA339019333 | HMGCL | c.950A>T (p.Lys317Ile) c.520A>T c.*991A>T (n.*991A>T) c.737A>T (p.Lys246Ile) | |
| 1 | g.23802491T>C | CA685848 | HMGCL | c.950A>G (p.Lys317Arg) c.520A>G c.*991A>G (n.*991A>G) c.737A>G (p.Lys246Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.23802491T>G | CA685849 | HMGCL | c.950A>C (p.Lys317Thr) c.520A>C c.*991A>C (n.*991A>C) c.737A>C (p.Lys246Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802491T= | CA1158963515 | HMGCL | c.950A= (p.Lys317=) c.520A= c.*991A= (n.*991A=) c.737A= (p.Lys246=) | |
| 1 | g.23802492T>A | CA339019335 | HMGCL | c.949A>T (p.Lys317Ter) c.519A>T c.*990A>T (n.*990A>T) c.736A>T (p.Lys246Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.23802492T>C | CA339019345 | HMGCL | c.949A>G (p.Lys317Glu) c.519A>G c.*990A>G (n.*990A>G) c.736A>G (p.Lys246Glu) | dbSNP gnomAD v4 |
| 1 | g.23802492T>G | CA685850 | HMGCL | c.949A>C (p.Lys317Gln) c.519A>C c.*990A>C (n.*990A>C) c.736A>C (p.Lys246Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802492T= | CA1158963516 | HMGCL | c.949A= (p.Lys317=) c.519A= c.*990A= (n.*990A=) c.736A= (p.Lys246=) | |
| 1 | g.23802493G>A | CA685851 | HMGCL | c.948C>T (p.Ser316=) c.518C>T c.*989C>T (n.*989C>T) c.735C>T (p.Ser245=) | dbSNP ExAC gnomAD v2 |
| 1 | g.23802493G>C | CA416616540 | HMGCL | c.948C>G (p.Ser316=) c.518C>G c.*989C>G (n.*989C>G) c.735C>G (p.Ser245=) | |
| 1 | g.23802493G= | CA1158963517 | HMGCL | c.948C= (p.Ser316=) c.518C= c.*989C= (n.*989C=) c.735C= (p.Ser245=) | |
| 1 | g.23802493G>T | CA416616542 | HMGCL | c.948C>A (p.Ser316=) c.518C>A c.*989C>A (n.*989C>A) c.735C>A (p.Ser245=) | |
| 1 | g.23802494del | CA2567501183 | HMGCL | c.948del (p.Val318TrpfsTer19) c.518del c.*989del (n.*989del) c.735del (p.Val247TrpfsTer19) | |
| 1 | g.23802494G>A | CA339019359 | HMGCL | c.947C>T (p.Ser316Phe) c.517C>T c.*988C>T (n.*988C>T) c.734C>T (p.Ser245Phe) | |
| 1 | g.23802494G>C | CA339019353 | HMGCL | c.947C>G (p.Ser316Cys) c.517C>G c.*988C>G (n.*988C>G) c.734C>G (p.Ser245Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.23802494G= | CA1158963518 | HMGCL | c.947C= (p.Ser316=) c.517C= c.*988C= (n.*988C=) c.734C= (p.Ser245=) | |
| 1 | g.23802494G>T | CA339019355 | HMGCL | c.947C>A (p.Ser316Tyr) c.517C>A c.*988C>A (n.*988C>A) c.734C>A (p.Ser245Tyr) | |
| 1 | g.23802495A>C | CA339019361 | HMGCL | c.946T>G (p.Ser316Ala) c.516T>G c.*987T>G (n.*987T>G) c.733T>G (p.Ser245Ala) | |
| 1 | g.23802495A>G | CA339019365 | HMGCL | c.946T>C (p.Ser316Pro) c.516T>C c.*987T>C (n.*987T>C) c.733T>C (p.Ser245Pro) | |
| 1 | g.23802495A>T | CA339019374 | HMGCL | c.946T>A (p.Ser316Thr) c.516T>A c.*987T>A (n.*987T>A) c.733T>A (p.Ser245Thr) | |
| 1 | g.23802496G>A | CA416616557 | HMGCL | c.945C>T (p.Ser315=) c.515C>T c.*986C>T (n.*986C>T) c.732C>T (p.Ser244=) | |
| 1 | g.23802496G>C | CA339019378 | HMGCL | c.945C>G (p.Ser315Arg) c.515C>G c.*986C>G (n.*986C>G) c.732C>G (p.Ser244Arg) | ClinVar dbSNP |
| 1 | g.23802496G= | CA1158963519 | HMGCL | c.945C= (p.Ser315=) c.515C= c.*986C= (n.*986C=) c.732C= (p.Ser244=) | |
| 1 | g.23802496G>T | CA339019389 | HMGCL | c.945C>A (p.Ser315Arg) c.515C>A c.*986C>A (n.*986C>A) c.732C>A (p.Ser244Arg) | |
| 1 | g.23802497C>A | CA339019409 | HMGCL | c.944G>T (p.Ser315Ile) c.514G>T c.*985G>T (n.*985G>T) c.731G>T (p.Ser244Ile) | |
| 1 | g.23802497C>G | CA339019422 | HMGCL | c.944G>C (p.Ser315Thr) c.514G>C c.*985G>C (n.*985G>C) c.731G>C (p.Ser244Thr) | |
| 1 | g.23802497C>T | CA339019457 | HMGCL | c.944G>A (p.Ser315Asn) c.514G>A c.*985G>A (n.*985G>A) c.731G>A (p.Ser244Asn) | |
| 1 | g.23802498T>A | CA685852 | HMGCL | c.943A>T (p.Ser315Cys) c.513A>T c.*984A>T (n.*984A>T) c.730A>T (p.Ser244Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802498T>C | CA339019463 | HMGCL | c.943A>G (p.Ser315Gly) c.513A>G c.*984A>G (n.*984A>G) c.730A>G (p.Ser244Gly) | |
| 1 | g.23802498T>G | CA339019470 | HMGCL | c.943A>C (p.Ser315Arg) c.513A>C c.*984A>C (n.*984A>C) c.730A>C (p.Ser244Arg) | |
| 1 | g.23802498T= | CA1148242119 | HMGCL | c.943A= (p.Ser315=) c.513A= c.*984A= (n.*984A=) c.730A= (p.Ser244=) | |
| 1 | g.23802499A>C | CA416616574 | HMGCL | c.942T>G (p.Thr314=) c.512T>G c.*983T>G (n.*983T>G) c.729T>G (p.Thr243=) | |
| 1 | g.23802499A>G | CA416616576 | HMGCL | c.942T>C (p.Thr314=) c.512T>C c.*983T>C (n.*983T>C) c.729T>C (p.Thr243=) | |
| 1 | g.23802499A>T | CA416616583 | HMGCL | c.942T>A (p.Thr314=) c.512T>A c.*983T>A (n.*983T>A) c.729T>A (p.Thr243=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.23802500G>A | CA339019477 | HMGCL | c.941C>T (p.Thr314Ile) c.511C>T c.*982C>T (n.*982C>T) c.728C>T (p.Thr243Ile) | |
| 1 | g.23802500G>C | CA339019490 | HMGCL | c.941C>G (p.Thr314Ser) c.511C>G c.*982C>G (n.*982C>G) c.728C>G (p.Thr243Ser) | |
| 1 | g.23802500G>T | CA339019485 | HMGCL | c.941C>A (p.Thr314Asn) c.511C>A c.*982C>A (n.*982C>A) c.728C>A (p.Thr243Asn) | |
| 1 | g.23802501T>A | CA339019498 | HMGCL | c.940A>T (p.Thr314Ser) c.510A>T c.*981A>T (n.*981A>T) c.727A>T (p.Thr243Ser) | |
| 1 | g.23802501T>C | CA685853 | HMGCL | c.940A>G (p.Thr314Ala) c.510A>G c.*981A>G (n.*981A>G) c.727A>G (p.Thr243Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802501T>G | CA339019507 | HMGCL | c.940A>C (p.Thr314Pro) c.510A>C c.*981A>C (n.*981A>C) c.727A>C (p.Thr243Pro) | |
| 1 | g.23802501T= | CA1158963520 | HMGCL | c.940A= (p.Thr314=) c.510A= c.*981A= (n.*981A=) c.727A= (p.Thr243=) | |
| 1 | g.23802502T>A | CA339019510 | HMGCL | c.939A>T (p.Lys313Asn) c.509A>T c.*980A>T (n.*980A>T) c.726A>T (p.Lys242Asn) | |
| 1 | g.23802502T>C | CA416616600 | HMGCL | c.939A>G (p.Lys313=) c.509A>G c.*980A>G (n.*980A>G) c.726A>G (p.Lys242=) | |
| 1 | g.23802502T>G | CA339019516 | HMGCL | c.939A>C (p.Lys313Asn) c.509A>C c.*980A>C (n.*980A>C) c.726A>C (p.Lys242Asn) | |
| 1 | g.23802503T>A | CA339019517 | HMGCL | c.938A>T (p.Lys313Ile) c.508A>T c.*979A>T (n.*979A>T) c.725A>T (p.Lys242Ile) | gnomAD v4 |
| 1 | g.23802503T>C | CA339019518 | HMGCL | c.938A>G (p.Lys313Arg) c.508A>G c.*979A>G (n.*979A>G) c.725A>G (p.Lys242Arg) | |
| 1 | g.23802503T>G | CA339019534 | HMGCL | c.938A>C (p.Lys313Thr) c.508A>C c.*979A>C (n.*979A>C) c.725A>C (p.Lys242Thr) | |
| 1 | g.23802504T>A | CA339019540 | HMGCL | c.937A>T (p.Lys313Ter) c.507A>T c.*978A>T (n.*978A>T) c.724A>T (p.Lys242Ter) | |
| 1 | g.23802504T>C | CA339019544 | HMGCL | c.937A>G (p.Lys313Glu) c.507A>G c.*978A>G (n.*978A>G) c.724A>G (p.Lys242Glu) | |
| 1 | g.23802504T>G | CA339019549 | HMGCL | c.937A>C (p.Lys313Gln) c.507A>C c.*978A>C (n.*978A>C) c.724A>C (p.Lys242Gln) | gnomAD v4 |
| 1 | g.23802505T>A | CA339019559 | HMGCL | c.936A>T (p.Arg312Ser) c.506A>T c.*977A>T (n.*977A>T) c.723A>T (p.Arg241Ser) | |
| 1 | g.23802505T>C | CA416616616 | HMGCL | c.936A>G (p.Arg312=) c.506A>G c.*977A>G (n.*977A>G) c.723A>G (p.Arg241=) | |
| 1 | g.23802505T>G | CA339019560 | HMGCL | c.936A>C (p.Arg312Ser) c.506A>C c.*977A>C (n.*977A>C) c.723A>C (p.Arg241Ser) | |
| 1 | g.23802506C>A | CA339019561 | HMGCL | c.935G>T (p.Arg312Ile) c.505G>T c.*976G>T (n.*976G>T) c.722G>T (p.Arg241Ile) | |
| 1 | g.23802506C>G | CA339019564 | HMGCL | c.935G>C (p.Arg312Thr) c.505G>C c.*976G>C (n.*976G>C) c.722G>C (p.Arg241Thr) | |
| 1 | g.23802506C>T | CA339019567 | HMGCL | c.935G>A (p.Arg312Lys) c.505G>A c.*976G>A (n.*976G>A) c.722G>A (p.Arg241Lys) | |
| 1 | g.23802507T>A | CA339019573 | HMGCL | c.934A>T (p.Arg312Ter) c.504A>T c.*975A>T (n.*975A>T) c.721A>T (p.Arg241Ter) | |
| 1 | g.23802507T>C | CA339019590 | HMGCL | c.934A>G (p.Arg312Gly) c.504A>G c.*975A>G (n.*975A>G) c.721A>G (p.Arg241Gly) | dbSNP |
| 1 | g.23802507T>G | CA416616630 | HMGCL | c.934A>C (p.Arg312=) c.504A>C c.*975A>C (n.*975A>C) c.721A>C (p.Arg241=) | |
| 1 | g.23802507T= | CA1158963521 | HMGCL | c.934A= (p.Arg312=) c.504A= c.*975A= (n.*975A=) c.721A= (p.Arg241=) | |
| 1 | g.23802508G>A | CA416616633 | HMGCL | c.933C>T (p.Asn311=) c.503C>T c.*974C>T (n.*974C>T) c.720C>T (p.Asn240=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.23802508G>C | CA339019591 | HMGCL | c.933C>G (p.Asn311Lys) c.503C>G c.*974C>G (n.*974C>G) c.720C>G (p.Asn240Lys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.23802508G= | CA1158963522 | HMGCL | c.933C= (p.Asn311=) c.503C= c.*974C= (n.*974C=) c.720C= (p.Asn240=) | |
| 1 | g.23802508G>T | CA339019594 | HMGCL | c.933C>A (p.Asn311Lys) c.503C>A c.*974C>A (n.*974C>A) c.720C>A (p.Asn240Lys) | |
| 1 | g.23802509T>A | CA339019601 | HMGCL | c.932A>T (p.Asn311Ile) c.502A>T c.*973A>T (n.*973A>T) c.719A>T (p.Asn240Ile) | |
| 1 | g.23802509T>C | CA339019604 | HMGCL | c.932A>G (p.Asn311Ser) c.502A>G c.*973A>G (n.*973A>G) c.719A>G (p.Asn240Ser) | |
| 1 | g.23802509T>G | CA339019607 | HMGCL | c.932A>C (p.Asn311Thr) c.502A>C c.*973A>C (n.*973A>C) c.719A>C (p.Asn240Thr) | |
| 1 | g.23802510T>A | CA339019612 | HMGCL | c.931A>T (p.Asn311Tyr) c.501A>T c.*972A>T (n.*972A>T) c.718A>T (p.Asn240Tyr) | |
| 1 | g.23802510T>C | CA339019614 | HMGCL | c.931A>G (p.Asn311Asp) c.501A>G c.*972A>G (n.*972A>G) c.718A>G (p.Asn240Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.23802510T>G | CA339019616 | HMGCL | c.931A>C (p.Asn311His) c.501A>C c.*972A>C (n.*972A>C) c.718A>C (p.Asn240His) | |
| 1 | g.23802510T= | CA1158963523 | HMGCL | c.931A= (p.Asn311=) c.501A= c.*972A= (n.*972A=) c.718A= (p.Asn240=) | |
| 1 | g.23802511C>A | CA416616646 | HMGCL | c.930G>T (p.Leu310=) c.500G>T c.*971G>T (n.*971G>T) c.717G>T (p.Leu239=) | |
| 1 | g.23802511C>G | CA416616648 | HMGCL | c.930G>C (p.Leu310=) c.500G>C c.*971G>C (n.*971G>C) c.717G>C (p.Leu239=) | |
| 1 | g.23802511C>T | CA416616651 | HMGCL | c.930G>A (p.Leu310=) c.500G>A c.*971G>A (n.*971G>A) c.717G>A (p.Leu239=) | |
| 1 | g.23802512A= | CA1158963524 | HMGCL | c.929T= (p.Leu310=) c.499T= c.*970T= (n.*970T=) c.716T= (p.Leu239=) | |
| 1 | g.23802512A>C | CA339019619 | HMGCL | c.929T>G (p.Leu310Arg) c.499T>G c.*970T>G (n.*970T>G) c.716T>G (p.Leu239Arg) | |
| 1 | g.23802512A>G | CA339019626 | HMGCL | c.929T>C (p.Leu310Pro) c.499T>C c.*970T>C (n.*970T>C) c.716T>C (p.Leu239Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.23802512A>T | CA339019621 | HMGCL | c.929T>A (p.Leu310Gln) c.499T>A c.*970T>A (n.*970T>A) c.716T>A (p.Leu239Gln) | |
| 1 | g.23802513G>A | CA416616669 | HMGCL | c.928C>T (p.Leu310=) c.498C>T c.*969C>T (n.*969C>T) c.715C>T (p.Leu239=) | |
| 1 | g.23802513G>C | CA19286722 | HMGCL | c.928C>G (p.Leu310Val) c.498C>G c.*969C>G (n.*969C>G) c.715C>G (p.Leu239Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.23802513G= | CA1142886294 | HMGCL | c.928C= (p.Leu310=) c.498C= c.*969C= (n.*969C=) c.715C= (p.Leu239=) | |
| 1 | g.23802513G>T | CA339019638 | HMGCL | c.928C>A (p.Leu310Met) c.498C>A c.*969C>A (n.*969C>A) c.715C>A (p.Leu239Met) | |
| 1 | g.23802514G>A | CA416616672 | HMGCL | c.927C>T (p.Ala309=) c.497C>T c.*968C>T (n.*968C>T) c.714C>T (p.Ala238=) | |
| 1 | g.23802514G>C | CA416616675 | HMGCL | c.927C>G (p.Ala309=) c.497C>G c.*968C>G (n.*968C>G) c.714C>G (p.Ala238=) | |
| 1 | g.23802514G>T | CA416616677 | HMGCL | c.927C>A (p.Ala309=) c.497C>A c.*968C>A (n.*968C>A) c.714C>A (p.Ala238=) | |
| 1 | g.23802515G>A | CA685855 | HMGCL | c.926C>T (p.Ala309Val) c.496C>T c.*967C>T (n.*967C>T) c.713C>T (p.Ala238Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.23802515G>C | CA685856 | HMGCL | c.926C>G (p.Ala309Gly) c.496C>G c.*967C>G (n.*967C>G) c.713C>G (p.Ala238Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802515G= | CA1147503053 | HMGCL | c.926C= (p.Ala309=) c.496C= c.*967C= (n.*967C=) c.713C= (p.Ala238=) | |
| 1 | g.23802515G>T | CA685854 | HMGCL | c.926C>A (p.Ala309Asp) c.496C>A c.*967C>A (n.*967C>A) c.713C>A (p.Ala238Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.23802516C>A | CA339019645 | HMGCL | c.925G>T (p.Ala309Ser) c.495G>T c.*966G>T (n.*966G>T) c.712G>T (p.Ala238Ser) | |
| 1 | g.23802516C>G | CA339019651 | HMGCL | c.925G>C (p.Ala309Pro) c.495G>C c.*966G>C (n.*966G>C) c.712G>C (p.Ala238Pro) | |
| 1 | g.23802516C>T | CA339019660 | HMGCL | c.925G>A (p.Ala309Thr) c.495G>A c.*966G>A (n.*966G>A) c.712G>A (p.Ala238Thr) | |
| 1 | g.23802517T>A | CA339019663 | HMGCL | c.924A>T (p.Gln308His) c.494A>T c.*965A>T (n.*965A>T) c.711A>T (p.Gln237His) | |
| 1 | g.23802517T>C | CA416616692 | HMGCL | c.924A>G (p.Gln308=) c.494A>G c.*965A>G (n.*965A>G) c.711A>G (p.Gln237=) | |
| 1 | g.23802517T>G | CA339019675 | HMGCL | c.924A>C (p.Gln308His) c.494A>C c.*965A>C (n.*965A>C) c.711A>C (p.Gln237His) | |
| 1 | g.23802518T>A | CA339019698 | HMGCL | c.923A>T (p.Gln308Leu) c.493A>T c.*964A>T (n.*964A>T) c.710A>T (p.Gln237Leu) | |
| 1 | g.23802518T>C | CA339019696 | HMGCL | c.923A>G (p.Gln308Arg) c.493A>G c.*964A>G (n.*964A>G) c.710A>G (p.Gln237Arg) | |
| 1 | g.23802518T>G | CA339019683 | HMGCL | c.923A>C (p.Gln308Pro) c.493A>C c.*964A>C (n.*964A>C) c.710A>C (p.Gln237Pro) | |
| 1 | g.23802519G>A | CA339019701 | HMGCL | c.922C>T (p.Gln308Ter) c.492C>T c.*963C>T (n.*963C>T) c.709C>T (p.Gln237Ter) | |
| 1 | g.23802519G>C | CA339019707 | HMGCL | c.922C>G (p.Gln308Glu) c.492C>G c.*963C>G (n.*963C>G) c.709C>G (p.Gln237Glu) | |
| 1 | g.23802519G>T | CA339019703 | HMGCL | c.922C>A (p.Gln308Lys) c.492C>A c.*963C>A (n.*963C>A) c.709C>A (p.Gln237Lys) | |
| 1 | g.23802520A= | CA1158963525 | HMGCL | c.921T= (p.Cys307=) c.491T= c.*962T= (n.*962T=) c.708T= (p.Cys236=) | |
| 1 | g.23802520A>C | CA339019712 | HMGCL | c.921T>G (p.Cys307Trp) c.491T>G c.*962T>G (n.*962T>G) c.708T>G (p.Cys236Trp) | |
| 1 | g.23802520A>G | CA685857 | HMGCL | c.921T>C (p.Cys307=) c.491T>C c.*962T>C (n.*962T>C) c.708T>C (p.Cys236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.23802520A>T | CA339019719 | HMGCL | c.921T>A (p.Cys307Ter) c.491T>A c.*962T>A (n.*962T>A) c.708T>A (p.Cys236Ter) | |
| 1 | g.23802521C>A | CA339019723 | HMGCL | c.920G>T (p.Cys307Phe) c.490G>T c.*961G>T (n.*961G>T) c.707G>T (p.Cys236Phe) | |
| 1 | g.23802521C= | CA1158963527 | HMGCL | c.920G= (p.Cys307=) c.490G= c.*961G= (n.*961G=) c.707G= (p.Cys236=) | |
| 1 | g.23802521C>G | CA339019725 | HMGCL | c.920G>C (p.Cys307Ser) c.490G>C c.*961G>C (n.*961G>C) c.707G>C (p.Cys236Ser) | gnomAD v4 |
| 1 | g.23802521C>T | CA339019729 | HMGCL | c.920G>A (p.Cys307Tyr) c.490G>A c.*961G>A (n.*961G>A) c.707G>A (p.Cys236Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.23802521_23802523delinsCAG | CA1158963526 | HMGCL | c.918_920delinsCTG (p.Ile306=) c.488_490delinsCTG c.*959_*961delinsCTG (n.*959_*961delinsCTG) c.705_707delinsCTG (p.Ile235=) | |
| 1 | g.23802522A>C | CA339019731 | HMGCL | c.919T>G (p.Cys307Gly) c.489T>G c.*960T>G (n.*960T>G) c.706T>G (p.Cys236Gly) | |
| 1 | g.23802522A>G | CA339019737 | HMGCL | c.919T>C (p.Cys307Arg) c.489T>C c.*960T>C (n.*960T>C) c.706T>C (p.Cys236Arg) | |
| 1 | g.23802522A>T | CA339019756 | HMGCL | c.919T>A (p.Cys307Ser) c.489T>A c.*960T>A (n.*960T>A) c.706T>A (p.Cys236Ser) | |
| 1 | g.23802522_23802524del | CA2644083824 | HMGCL | c.917_919del (p.Ile306_Cys307delinsSer) c.487_489del c.*958_*960del (n.*958_*960del) c.704_706del (p.Ile235_Cys236delinsSer) | gnomAD v4 |
| 1 | g.23802523_23802524del | CA685858 | HMGCL | c.918_919del (p.Ile306MetfsTer9) c.488_489del c.*959_*960del (n.*959_*960del) c.705_706del (p.Ile235MetfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.23802523G>A | CA416616742 | HMGCL | c.918C>T (p.Ile306=) c.488C>T c.*959C>T (n.*959C>T) c.705C>T (p.Ile235=) | ClinVar dbSNP |
| 1 | g.23802523G>C | CA339019764 | HMGCL | c.918C>G (p.Ile306Met) c.488C>G c.*959C>G (n.*959C>G) c.705C>G (p.Ile235Met) | |
| 1 | g.23802523G>T | CA416616745 | HMGCL | c.918C>A (p.Ile306=) c.488C>A c.*959C>A (n.*959C>A) c.705C>A (p.Ile235=) | |
| 1 | g.23802524A>C | CA339019773 | HMGCL | c.917T>G (p.Ile306Ser) c.487T>G c.*958T>G (n.*958T>G) c.704T>G (p.Ile235Ser) | |
| 1 | g.23802524A>G | CA339019772 | HMGCL | c.917T>C (p.Ile306Thr) c.487T>C c.*958T>C (n.*958T>C) c.704T>C (p.Ile235Thr) | |
| 1 | g.23802524A>T | CA339019771 | HMGCL | c.917T>A (p.Ile306Asn) c.487T>A c.*958T>A (n.*958T>A) c.704T>A (p.Ile235Asn) | |
| 1 | g.23802525T>A | CA339019777 | HMGCL | c.916A>T (p.Ile306Phe) c.486A>T c.*957A>T (n.*957A>T) c.703A>T (p.Ile235Phe) | |
| 1 | g.23802525T>C | CA339019780 | HMGCL | c.916A>G (p.Ile306Val) c.486A>G c.*957A>G (n.*957A>G) c.703A>G (p.Ile235Val) | |
| 1 | g.23802525T>G | CA339019784 | HMGCL | c.916A>C (p.Ile306Leu) c.486A>C c.*957A>C (n.*957A>C) c.703A>C (p.Ile235Leu) | |
| 1 | g.23802525_23802527delinsTAA | CA1158963528 | HMGCL | c.914_916delinsTTA (p.Phe305=) c.484_486delinsTTA c.*955_*957delinsTTA (n.*955_*957delinsTTA) c.701_703delinsTTA (p.Phe234=) | |
| 1 | g.23802526A>C | CA339019785 | HMGCL | c.915T>G (p.Phe305Leu) c.485T>G c.*956T>G (n.*956T>G) c.702T>G (p.Phe234Leu) | |
| 1 | g.23802526A>G | CA416616757 | HMGCL | c.915T>C (p.Phe305=) c.485T>C c.*956T>C (n.*956T>C) c.702T>C (p.Phe234=) | ClinVar dbSNP |
| 1 | g.23802526A>T | CA339019786 | HMGCL | c.915T>A (p.Phe305Leu) c.485T>A c.*956T>A (n.*956T>A) c.702T>A (p.Phe234Leu) | |
| 1 | g.23802528dup | CA645512954 | HMGCL | c.915dup (p.Ile306TyrfsTer10) c.485dup c.*956dup (n.*956dup) c.702dup (p.Ile235TyrfsTer10) | COSMIC |
| 1 | g.23802527_23802528del | CA261115 | HMGCL | c.914_915del (p.Phe305TyrfsTer10) c.484_485del c.*955_*956del (n.*955_*956del) c.701_702del (p.Phe234TyrfsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.23802527A>C | CA339019791 | HMGCL | c.914T>G (p.Phe305Cys) c.484T>G c.*955T>G (n.*955T>G) c.701T>G (p.Phe234Cys) | |
| 1 | g.23802527A>G | CA339019793 | HMGCL | c.914T>C (p.Phe305Ser) c.484T>C c.*955T>C (n.*955T>C) c.701T>C (p.Phe234Ser) | gnomAD v4 |
| 1 | g.23802527A>T | CA339019795 | HMGCL | c.914T>A (p.Phe305Tyr) c.484T>A c.*955T>A (n.*955T>A) c.701T>A (p.Phe234Tyr) | |
| 1 | g.23802528A>C | CA339019803 | HMGCL | c.913T>G (p.Phe305Val) c.483T>G c.*954T>G (n.*954T>G) c.700T>G (p.Phe234Val) | |
| 1 | g.23802528A>G | CA339019804 | HMGCL | c.913T>C (p.Phe305Leu) c.483T>C c.*954T>C (n.*954T>C) c.700T>C (p.Phe234Leu) | gnomAD v4 |
| 1 | g.23802528A>T | CA339019808 | HMGCL | c.913T>A (p.Phe305Ile) c.483T>A c.*954T>A (n.*954T>A) c.700T>A (p.Phe234Ile) | |
| 1 | g.23802529G>A | CA416616770 | HMGCL | c.912C>T (p.Asn304=) c.482C>T c.*953C>T (n.*953C>T) c.699C>T (p.Asn233=) | |
| 1 | g.23802529G>C | CA339019830 | HMGCL | c.912C>G (p.Asn304Lys) c.482C>G c.*953C>G (n.*953C>G) c.699C>G (p.Asn233Lys) | |
| 1 | g.23802529G>T | CA339019819 | HMGCL | c.912C>A (p.Asn304Lys) c.482C>A c.*953C>A (n.*953C>A) c.699C>A (p.Asn233Lys) | |
| 1 | g.23802530T>A | CA339019842 | HMGCL | c.911A>T (p.Asn304Ile) c.481A>T c.*952A>T (n.*952A>T) c.698A>T (p.Asn233Ile) | |
| 1 | g.23802530T>C | CA339019851 | HMGCL | c.911A>G (p.Asn304Ser) c.481A>G c.*952A>G (n.*952A>G) c.698A>G (p.Asn233Ser) | |
| 1 | g.23802530T>G | CA339019854 | HMGCL | c.911A>C (p.Asn304Thr) c.481A>C c.*952A>C (n.*952A>C) c.698A>C (p.Asn233Thr) | |
| 1 | g.23802531T>A | CA339019857 | HMGCL | c.910A>T (p.Asn304Tyr) c.480A>T c.*951A>T (n.*951A>T) c.697A>T (p.Asn233Tyr) | |
| 1 | g.23802531T>C | CA339019860 | HMGCL | c.910A>G (p.Asn304Asp) c.480A>G c.*951A>G (n.*951A>G) c.697A>G (p.Asn233Asp) | |
| 1 | g.23802531T>G | CA339019867 | HMGCL | c.910A>C (p.Asn304His) c.480A>C c.*951A>C (n.*951A>C) c.697A>C (p.Asn233His) | |
| 1 | g.23802532T>A | CA416616788 | HMGCL | c.909A>T (p.Gly303=) c.479A>T c.*950A>T (n.*950A>T) c.696A>T (p.Gly232=) | |
| 1 | g.23802532T>C | CA416616793 | HMGCL | c.909A>G (p.Gly303=) c.479A>G c.*950A>G (n.*950A>G) c.696A>G (p.Gly232=) | ClinVar gnomAD v4 |
| 1 | g.23802532T>G | CA416616790 | HMGCL | c.909A>C (p.Gly303=) c.479A>C c.*950A>C (n.*950A>C) c.696A>C (p.Gly232=) | |
| 1 | g.23802533C>A | CA339019868 | HMGCL | c.908G>T (p.Gly303Val) c.478G>T c.*949G>T (n.*949G>T) c.695G>T (p.Gly232Val) | |
| 1 | g.23802533C>G | CA339019869 | HMGCL | c.908G>C (p.Gly303Ala) c.478G>C c.*949G>C (n.*949G>C) c.695G>C (p.Gly232Ala) | gnomAD v4 |
| 1 | g.23802533C>T | CA339019871 | HMGCL | c.908G>A (p.Gly303Glu) c.478G>A c.*949G>A (n.*949G>A) c.695G>A (p.Gly232Glu) |