UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23355396T>A | CA387549747 | SACS | c.1216A>T (p.Lys406Ter) n.1354A>T c.1207A>T (p.Lys403Ter) n.3573A>T c.-1035A>T (n.-1035A>T) c.88A>T (p.Lys30Ter) c.914A>T c.775A>T (p.Lys259Ter) c.1240A>T (p.Lys414Ter) | |
| 13 | g.23355396T>C | CA387549749 | SACS | c.1216A>G (p.Lys406Glu) n.1354A>G c.1207A>G (p.Lys403Glu) n.3573A>G c.-1035A>G (n.-1035A>G) c.88A>G (p.Lys30Glu) c.914A>G c.775A>G (p.Lys259Glu) c.1240A>G (p.Lys414Glu) | gnomAD v4 |
| 13 | g.23355396T>G | CA387549751 | SACS | c.1216A>C (p.Lys406Gln) n.1354A>C c.1207A>C (p.Lys403Gln) n.3573A>C c.-1035A>C (n.-1035A>C) c.88A>C (p.Lys30Gln) c.914A>C c.775A>C (p.Lys259Gln) c.1240A>C (p.Lys414Gln) | |
| 13 | g.23355397A= | CA2078658620 | SACS | c.1215T= (p.Ser405=) n.1353T= c.1206T= (p.Ser402=) n.3572T= c.-1036T= (n.-1036T=) c.87T= (p.Ser29=) c.913T= c.774T= (p.Ser258=) c.1239T= (p.Ser413=) | |
| 13 | g.23355397A>C | CA387549753 | SACS | c.1215T>G (p.Ser405Arg) n.1353T>G c.1206T>G (p.Ser402Arg) n.3572T>G c.-1036T>G (n.-1036T>G) c.87T>G (p.Ser29Arg) c.913T>G c.774T>G (p.Ser258Arg) c.1239T>G (p.Ser413Arg) | |
| 13 | g.23355397A>G | CA6911952 | SACS | c.1215T>C (p.Ser405=) n.1353T>C c.1206T>C (p.Ser402=) n.3572T>C c.-1036T>C (n.-1036T>C) c.87T>C (p.Ser29=) c.913T>C c.774T>C (p.Ser258=) c.1239T>C (p.Ser413=) | ClinVar dbSNP ExAC gnomAD v4 |
| 13 | g.23355397A>T | CA387549757 | SACS | c.1215T>A (p.Ser405Arg) n.1353T>A c.1206T>A (p.Ser402Arg) n.3572T>A c.-1036T>A (n.-1036T>A) c.87T>A (p.Ser29Arg) c.913T>A c.774T>A (p.Ser258Arg) c.1239T>A (p.Ser413Arg) | |
| 13 | g.23355397_23355398del | CA2525109538 | SACS | c.1214_1215del (p.Ser405LysfsTer3) n.1352_1353del c.1205_1206del (p.Ser402LysfsTer3) n.3571_3572del c.-1037_-1036del (n.-1037_-1036del) c.86_87del (p.Ser29LysfsTer3) c.912_913del c.773_774del (p.Ser258LysfsTer3) c.1238_1239del (p.Ser413LysfsTer3) | |
| 13 | g.23355398C>A | CA387549759 | SACS | c.1214G>T (p.Ser405Ile) n.1352G>T c.1205G>T (p.Ser402Ile) n.3571G>T c.-1037G>T (n.-1037G>T) c.86G>T (p.Ser29Ile) c.912G>T c.773G>T (p.Ser258Ile) c.1238G>T (p.Ser413Ile) | COSMIC COSMIC |
| 13 | g.23355398C= | CA2078658622 | SACS | c.1214G= (p.Ser405=) n.1352G= c.1205G= (p.Ser402=) n.3571G= c.-1037G= (n.-1037G=) c.86G= (p.Ser29=) c.912G= c.773G= (p.Ser258=) c.1238G= (p.Ser413=) | |
| 13 | g.23355398C>G | CA387549761 | SACS | c.1214G>C (p.Ser405Thr) n.1352G>C c.1205G>C (p.Ser402Thr) n.3571G>C c.-1037G>C (n.-1037G>C) c.86G>C (p.Ser29Thr) c.912G>C c.773G>C (p.Ser258Thr) c.1238G>C (p.Ser413Thr) | dbSNP |
| 13 | g.23355398C>T | CA387549763 | SACS | c.1214G>A (p.Ser405Asn) n.1352G>A c.1205G>A (p.Ser402Asn) n.3571G>A c.-1037G>A (n.-1037G>A) c.86G>A (p.Ser29Asn) c.912G>A c.773G>A (p.Ser258Asn) c.1238G>A (p.Ser413Asn) | |
| 13 | g.23355399T>A | CA387549769 | SACS | c.1213A>T (p.Ser405Cys) n.1351A>T c.1204A>T (p.Ser402Cys) n.3570A>T c.-1038A>T (n.-1038A>T) c.85A>T (p.Ser29Cys) c.911A>T c.772A>T (p.Ser258Cys) c.1237A>T (p.Ser413Cys) | |
| 13 | g.23355399T>C | CA387549766 | SACS | c.1213A>G (p.Ser405Gly) n.1351A>G c.1204A>G (p.Ser402Gly) n.3570A>G c.-1038A>G (n.-1038A>G) c.85A>G (p.Ser29Gly) c.911A>G c.772A>G (p.Ser258Gly) c.1237A>G (p.Ser413Gly) | |
| 13 | g.23355399T>G | CA387549768 | SACS | c.1213A>C (p.Ser405Arg) n.1351A>C c.1204A>C (p.Ser402Arg) n.3570A>C c.-1038A>C (n.-1038A>C) c.85A>C (p.Ser29Arg) c.911A>C c.772A>C (p.Ser258Arg) c.1237A>C (p.Ser413Arg) | gnomAD v4 |
| 13 | g.23355399_23355400insTTTT | CA2567595048 | SACS | c.1213_1214insAAAA (p.Ser405LysfsTer3) n.1351_1352insAAAA c.1204_1205insAAAA (p.Ser402LysfsTer3) n.3570_3571insAAAA c.-1038_-1037insAAAA (n.-1038_-1037insAAAA) c.85_86insAAAA (p.Ser29LysfsTer3) c.911_912insAAAA c.772_773insAAAA (p.Ser258LysfsTer3) c.1237_1238insAAAA (p.Ser413LysfsTer3) | |
| 13 | g.23355400A= | CA2078658627 | SACS | c.1212T= (p.Ser404=) n.1350T= c.1203T= (p.Ser401=) n.3569T= c.-1039T= (n.-1039T=) c.84T= (p.Ser28=) c.910T= c.771T= (p.Ser257=) c.1236T= (p.Ser412=) | |
| 13 | g.23355400A>C | CA387549772 | SACS | c.1212T>G (p.Ser404Arg) n.1350T>G c.1203T>G (p.Ser401Arg) n.3569T>G c.-1039T>G (n.-1039T>G) c.84T>G (p.Ser28Arg) c.910T>G c.771T>G (p.Ser257Arg) c.1236T>G (p.Ser412Arg) | |
| 13 | g.23355400A>G | CA483164549 | SACS | c.1212T>C (p.Ser404=) n.1350T>C c.1203T>C (p.Ser401=) n.3569T>C c.-1039T>C (n.-1039T>C) c.84T>C (p.Ser28=) c.910T>C c.771T>C (p.Ser257=) c.1236T>C (p.Ser412=) | ClinVar dbSNP |
| 13 | g.23355400A>T | CA387549774 | SACS | c.1212T>A (p.Ser404Arg) n.1350T>A c.1203T>A (p.Ser401Arg) n.3569T>A c.-1039T>A (n.-1039T>A) c.84T>A (p.Ser28Arg) c.910T>A c.771T>A (p.Ser257Arg) c.1236T>A (p.Ser412Arg) | |
| 13 | g.23355401C>A | CA387549776 | SACS | c.1211G>T (p.Ser404Ile) n.1349G>T c.1202G>T (p.Ser401Ile) n.3568G>T c.-1040G>T (n.-1040G>T) c.83G>T (p.Ser28Ile) c.909G>T c.770G>T (p.Ser257Ile) c.1235G>T (p.Ser412Ile) | gnomAD v4 |
| 13 | g.23355401C>G | CA387549777 | SACS | c.1211G>C (p.Ser404Thr) n.1349G>C c.1202G>C (p.Ser401Thr) n.3568G>C c.-1040G>C (n.-1040G>C) c.83G>C (p.Ser28Thr) c.909G>C c.770G>C (p.Ser257Thr) c.1235G>C (p.Ser412Thr) | |
| 13 | g.23355401C>T | CA387549779 | SACS | c.1211G>A (p.Ser404Asn) n.1349G>A c.1202G>A (p.Ser401Asn) n.3568G>A c.-1040G>A (n.-1040G>A) c.83G>A (p.Ser28Asn) c.909G>A c.770G>A (p.Ser257Asn) c.1235G>A (p.Ser412Asn) | gnomAD v4 |
| 13 | g.23355402T>A | CA387549781 | SACS | c.1210A>T (p.Ser404Cys) n.1348A>T c.1201A>T (p.Ser401Cys) n.3567A>T c.-1041A>T (n.-1041A>T) c.82A>T (p.Ser28Cys) c.908A>T c.769A>T (p.Ser257Cys) c.1234A>T (p.Ser412Cys) | dbSNP |
| 13 | g.23355402T>C | CA387549782 | SACS | c.1210A>G (p.Ser404Gly) n.1348A>G c.1201A>G (p.Ser401Gly) n.3567A>G c.-1041A>G (n.-1041A>G) c.82A>G (p.Ser28Gly) c.908A>G c.769A>G (p.Ser257Gly) c.1234A>G (p.Ser412Gly) | gnomAD v4 |
| 13 | g.23355402T>G | CA387549784 | SACS | c.1210A>C (p.Ser404Arg) n.1348A>C c.1201A>C (p.Ser401Arg) n.3567A>C c.-1041A>C (n.-1041A>C) c.82A>C (p.Ser28Arg) c.908A>C c.769A>C (p.Ser257Arg) c.1234A>C (p.Ser412Arg) | |
| 13 | g.23355402T= | CA2078658630 | SACS | c.1210A= (p.Ser404=) n.1348A= c.1201A= (p.Ser401=) n.3567A= c.-1041A= (n.-1041A=) c.82A= (p.Ser28=) c.908A= c.769A= (p.Ser257=) c.1234A= (p.Ser412=) | |
| 13 | g.23355403G>A | CA6911953 | SACS | c.1209C>T (p.Ile403=) n.1347C>T c.1200C>T (p.Ile400=) n.3566C>T c.-1042C>T (n.-1042C>T) c.81C>T (p.Ile27=) c.907C>T c.768C>T (p.Ile256=) c.1233C>T (p.Ile411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355403G>C | CA387549787 | SACS | c.1209C>G (p.Ile403Met) n.1347C>G c.1200C>G (p.Ile400Met) n.3566C>G c.-1042C>G (n.-1042C>G) c.81C>G (p.Ile27Met) c.907C>G c.768C>G (p.Ile256Met) c.1233C>G (p.Ile411Met) | |
| 13 | g.23355403G= | CA2078658632 | SACS | c.1209C= (p.Ile403=) n.1347C= c.1200C= (p.Ile400=) n.3566C= c.-1042C= (n.-1042C=) c.81C= (p.Ile27=) c.907C= c.768C= (p.Ile256=) c.1233C= (p.Ile411=) | |
| 13 | g.23355403G>T | CA483164551 | SACS | c.1209C>A (p.Ile403=) n.1347C>A c.1200C>A (p.Ile400=) n.3566C>A c.-1042C>A (n.-1042C>A) c.81C>A (p.Ile27=) c.907C>A c.768C>A (p.Ile256=) c.1233C>A (p.Ile411=) | |
| 13 | g.23355404A>C | CA387549790 | SACS | c.1208T>G (p.Ile403Ser) n.1346T>G c.1199T>G (p.Ile400Ser) n.3565T>G c.-1043T>G (n.-1043T>G) c.80T>G (p.Ile27Ser) c.906T>G c.767T>G (p.Ile256Ser) c.1232T>G (p.Ile411Ser) | |
| 13 | g.23355404A>G | CA387549792 | SACS | c.1208T>C (p.Ile403Thr) n.1346T>C c.1199T>C (p.Ile400Thr) n.3565T>C c.-1043T>C (n.-1043T>C) c.80T>C (p.Ile27Thr) c.906T>C c.767T>C (p.Ile256Thr) c.1232T>C (p.Ile411Thr) | |
| 13 | g.23355404A>T | CA387549793 | SACS | c.1208T>A (p.Ile403Asn) n.1346T>A c.1199T>A (p.Ile400Asn) n.3565T>A c.-1043T>A (n.-1043T>A) c.80T>A (p.Ile27Asn) c.906T>A c.767T>A (p.Ile256Asn) c.1232T>A (p.Ile411Asn) | |
| 13 | g.23355405T>A | CA387549798 | SACS | c.1207A>T (p.Ile403Phe) n.1345A>T c.1198A>T (p.Ile400Phe) n.3564A>T c.-1044A>T (n.-1044A>T) c.79A>T (p.Ile27Phe) c.905A>T c.766A>T (p.Ile256Phe) c.1231A>T (p.Ile411Phe) | |
| 13 | g.23355405T>C | CA387549800 | SACS | c.1207A>G (p.Ile403Val) n.1345A>G c.1198A>G (p.Ile400Val) n.3564A>G c.-1044A>G (n.-1044A>G) c.79A>G (p.Ile27Val) c.905A>G c.766A>G (p.Ile256Val) c.1231A>G (p.Ile411Val) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23355405T>G | CA387549796 | SACS | c.1207A>C (p.Ile403Leu) n.1345A>C c.1198A>C (p.Ile400Leu) n.3564A>C c.-1044A>C (n.-1044A>C) c.79A>C (p.Ile27Leu) c.905A>C c.766A>C (p.Ile256Leu) c.1231A>C (p.Ile411Leu) | |
| 13 | g.23355405T= | CA2078658634 | SACS | c.1207A= (p.Ile403=) n.1345A= c.1198A= (p.Ile400=) n.3564A= c.-1044A= (n.-1044A=) c.79A= (p.Ile27=) c.905A= c.766A= (p.Ile256=) c.1231A= (p.Ile411=) | |
| 13 | g.23355406C>A | CA483164552 | SACS | c.1206G>T (p.Gly402=) n.1344G>T c.1197G>T (p.Gly399=) n.3563G>T c.-1045G>T (n.-1045G>T) c.78G>T (p.Gly26=) c.904G>T c.765G>T (p.Gly255=) c.1230G>T (p.Gly410=) | |
| 13 | g.23355406C= | CA2078658636 | SACS | c.1206G= (p.Gly402=) n.1344G= c.1197G= (p.Gly399=) n.3563G= c.-1045G= (n.-1045G=) c.78G= (p.Gly26=) c.904G= c.765G= (p.Gly255=) c.1230G= (p.Gly410=) | |
| 13 | g.23355406C>G | CA483164553 | SACS | c.1206G>C (p.Gly402=) n.1344G>C c.1197G>C (p.Gly399=) n.3563G>C c.-1045G>C (n.-1045G>C) c.78G>C (p.Gly26=) c.904G>C c.765G>C (p.Gly255=) c.1230G>C (p.Gly410=) | |
| 13 | g.23355406C>T | CA483164555 | SACS | c.1206G>A (p.Gly402=) n.1344G>A c.1197G>A (p.Gly399=) n.3563G>A c.-1045G>A (n.-1045G>A) c.78G>A (p.Gly26=) c.904G>A c.765G>A (p.Gly255=) c.1230G>A (p.Gly410=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23355407C>A | CA387549802 | SACS | c.1205G>T (p.Gly402Val) n.1343G>T c.1196G>T (p.Gly399Val) n.3562G>T c.-1046G>T (n.-1046G>T) c.77G>T (p.Gly26Val) c.903G>T c.764G>T (p.Gly255Val) c.1229G>T (p.Gly410Val) | |
| 13 | g.23355407C>G | CA387549807 | SACS | c.1205G>C (p.Gly402Ala) n.1343G>C c.1196G>C (p.Gly399Ala) n.3562G>C c.-1046G>C (n.-1046G>C) c.77G>C (p.Gly26Ala) c.903G>C c.764G>C (p.Gly255Ala) c.1229G>C (p.Gly410Ala) | |
| 13 | g.23355407C>T | CA387549805 | SACS | c.1205G>A (p.Gly402Glu) n.1343G>A c.1196G>A (p.Gly399Glu) n.3562G>A c.-1046G>A (n.-1046G>A) c.77G>A (p.Gly26Glu) c.903G>A c.764G>A (p.Gly255Glu) c.1229G>A (p.Gly410Glu) | |
| 13 | g.23355408C>A | CA387549808 | SACS | c.1204G>T (p.Gly402Trp) n.1342G>T c.1195G>T (p.Gly399Trp) n.3561G>T c.-1047G>T (n.-1047G>T) c.76G>T (p.Gly26Trp) c.902G>T c.763G>T (p.Gly255Trp) c.1228G>T (p.Gly410Trp) | |
| 13 | g.23355408C= | CA2078658638 | SACS | c.1204G= (p.Gly402=) n.1342G= c.1195G= (p.Gly399=) n.3561G= c.-1047G= (n.-1047G=) c.76G= (p.Gly26=) c.902G= c.763G= (p.Gly255=) c.1228G= (p.Gly410=) | |
| 13 | g.23355408C>G | CA6911954 | SACS | c.1204G>C (p.Gly402Arg) n.1342G>C c.1195G>C (p.Gly399Arg) n.3561G>C c.-1047G>C (n.-1047G>C) c.76G>C (p.Gly26Arg) c.902G>C c.763G>C (p.Gly255Arg) c.1228G>C (p.Gly410Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355408C>T | CA387549811 | SACS | c.1204G>A (p.Gly402Arg) n.1342G>A c.1195G>A (p.Gly399Arg) n.3561G>A c.-1047G>A (n.-1047G>A) c.76G>A (p.Gly26Arg) c.902G>A c.763G>A (p.Gly255Arg) c.1228G>A (p.Gly410Arg) | |
| 13 | g.23355409T>A | CA483164558 | SACS | c.1203A>T (p.Arg401=) n.1341A>T c.1194A>T (p.Arg398=) n.3560A>T c.-1048A>T (n.-1048A>T) c.75A>T (p.Arg25=) c.901A>T c.762A>T (p.Arg254=) c.1227A>T (p.Arg409=) |