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 |
|---|---|---|---|---|---|
| 19 | g.11104774_11112892dup | CA2580612594 | LDLR | c.572-446_1445-386dup c.314-446_1187-386dup c.314-446_1067-386dup c.568-446_1441-386dup c.313+1988_683-386dup c.191-446_1064-386dup c.314-1791_806-386dup n.464-446_1337-386dup n.431-446_1304-386dup | |
| 19 | g.11105158_11111699dup | CA2580612596 | LDLR | c.572-62_1444+60dup c.314-62_1186+60dup c.314-62_1066+60dup c.568-62_1440+60dup c.314-2234_682+60dup c.191-62_1063+60dup c.314-1407_805+60dup n.464-62_1336+60dup n.431-62_1303+60dup | |
| 19 | g.11105170_11111689dup | CA2580612597 | LDLR | c.572-50_1444+50dup c.314-50_1186+50dup c.314-50_1066+50dup c.568-50_1440+50dup c.314-2222_682+50dup c.191-50_1063+50dup c.314-1395_805+50dup n.464-50_1336+50dup n.431-50_1303+50dup | |
| 19 | g.11106498_11114133del | CA404079331 | LDLR | c.953-67_1844+371del c.695-67_1586+371del c.695-67_1466+371del c.949-67_1840+371del c.314-894_1082+371del c.572-67_1463+371del c.314-67_1205+371del n.845-67_1736+371del n.812-67_1703+371del | ClinVar |
| 19 | g.11108359_11112170del | CA404081661 | LDLR | c.1198+845_1444+531del c.940+845_1186+531del c.940+845_1066+531del c.1194+845_1440+531del c.436+845_682+531del c.817+845_1063+531del c.559+845_805+531del c.540+845_666+531del n.1090+845_1336+531del n.1057+845_1303+531del | ClinVar |
| 19 | g.11110651_11110772dup | CA658824570 | LDLR | c.1199-1_1318+1dup c.941-1_1060+1dup c.941-863_941-742dup (n.941-863_941-742dup) c.1195-1_1314+1dup c.437-1_556+1dup c.818-1_937+1dup c.560-1_679+1dup c.541-863_541-742dup n.1091-1_1210+1dup n.1058-1_1177+1dup | ClinVar |
| 19 | g.11110652_11110701delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT | CA2322770212 | LDLR | c.1199_1248delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT (p.Gly400=) c.941_990delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT (p.Gly314=) c.941-862_941-813delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT (n.941-862_941-813delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT) c.1195_1244delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT c.437_486delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT (p.Gly146=) c.818_867delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT (p.Gly273=) c.560_609delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT (p.Gly187=) c.541-862_541-813delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT n.1091_1140delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT n.1058_1107delinsGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT | |
| 19 | g.11110657_11110705del | CA10585221 | LDLR | c.1204_1252del (p.Asn402LeufsTer?) c.946_994del (p.Asn316LeufsTer?) c.941-857_941-809del (n.941-857_941-809del) c.1200_1248del c.442_490del (p.Asn148LeufsTer?) c.823_871del (p.Asn275LeufsTer?) c.565_613del (p.Asn189LeufsTer?) c.541-857_541-809del n.1096_1144del n.1063_1111del | ClinVar dbSNP |
| 19 | g.11110665_11110685dup | CA2582474196 | LDLR | c.1212_1232dup (p.Cys411_Ser412insLeuAspAsnAsnGlyGlyCys) c.954_974dup (p.Cys325_Ser326insLeuAspAsnAsnGlyGlyCys) c.941-849_941-829dup (n.941-849_941-829dup) c.1208_1228dup c.450_470dup (p.Cys157_Ser158insLeuAspAsnAsnGlyGlyCys) c.831_851dup (p.Cys284_Ser285insLeuAspAsnAsnGlyGlyCys) c.573_593dup (p.Cys198_Ser199insLeuAspAsnAsnGlyGlyCys) c.541-849_541-829dup n.1104_1124dup n.1071_1091dup | gnomAD v4 |
| 19 | g.11110666T>A | CA404082620 | LDLR | c.1213T>A (p.Leu405Met) c.955T>A (p.Leu319Met) c.941-848T>A (n.941-848T>A) c.1209T>A c.451T>A (p.Leu151Met) c.832T>A (p.Leu278Met) c.574T>A (p.Leu192Met) c.541-848T>A n.1105T>A n.1072T>A | |
| 19 | g.11110666T>C | CA505485321 | LDLR | c.1213T>C (p.Leu405=) c.955T>C (p.Leu319=) c.941-848T>C (n.941-848T>C) c.1209T>C c.451T>C (p.Leu151=) c.832T>C (p.Leu278=) c.574T>C (p.Leu192=) c.541-848T>C n.1105T>C n.1072T>C | ClinVar gnomAD v4 |
| 19 | g.11110666T>G | CA404082621 | LDLR | c.1213T>G (p.Leu405Val) c.955T>G (p.Leu319Val) c.941-848T>G (n.941-848T>G) c.1209T>G c.451T>G (p.Leu151Val) c.832T>G (p.Leu278Val) c.574T>G (p.Leu192Val) c.541-848T>G n.1105T>G n.1072T>G | |
| 19 | g.11110667T>A | CA404082622 | LDLR | c.1214T>A (p.Leu405Ter) c.956T>A (p.Leu319Ter) c.941-847T>A (n.941-847T>A) c.1210T>A c.452T>A (p.Leu151Ter) c.833T>A (p.Leu278Ter) c.575T>A (p.Leu192Ter) c.541-847T>A n.1106T>A n.1073T>A | |
| 19 | g.11110667T>C | CA404082623 | LDLR | c.1214T>C (p.Leu405Ser) c.956T>C (p.Leu319Ser) c.941-847T>C (n.941-847T>C) c.1210T>C c.452T>C (p.Leu151Ser) c.833T>C (p.Leu278Ser) c.575T>C (p.Leu192Ser) c.541-847T>C n.1106T>C n.1073T>C | |
| 19 | g.11110667T>G | CA404082624 | LDLR | c.1214T>G (p.Leu405Trp) c.956T>G (p.Leu319Trp) c.941-847T>G (n.941-847T>G) c.1210T>G c.452T>G (p.Leu151Trp) c.833T>G (p.Leu278Trp) c.575T>G (p.Leu192Trp) c.541-847T>G n.1106T>G n.1073T>G | |
| 19 | g.11110668G>A | CA505485322 | LDLR | c.1215G>A (p.Leu405=) c.957G>A (p.Leu319=) c.941-846G>A (n.941-846G>A) c.1211G>A c.453G>A (p.Leu151=) c.834G>A (p.Leu278=) c.576G>A (p.Leu192=) c.541-846G>A n.1107G>A n.1074G>A | |
| 19 | g.11110668G>C | CA404082625 | LDLR | c.1215G>C (p.Leu405Phe) c.957G>C (p.Leu319Phe) c.941-846G>C (n.941-846G>C) c.1211G>C c.453G>C (p.Leu151Phe) c.834G>C (p.Leu278Phe) c.576G>C (p.Leu192Phe) c.541-846G>C n.1107G>C n.1074G>C | |
| 19 | g.11110668G= | CA2322770224 | LDLR | c.1215G= (p.Leu405=) c.957G= (p.Leu319=) c.941-846G= (n.941-846G=) c.1211G= c.453G= (p.Leu151=) c.834G= (p.Leu278=) c.576G= (p.Leu192=) c.541-846G= n.1107G= n.1074G= | |
| 19 | g.11110668G>T | CA404082626 | LDLR | c.1215G>T (p.Leu405Phe) c.957G>T (p.Leu319Phe) c.941-846G>T (n.941-846G>T) c.1211G>T c.453G>T (p.Leu151Phe) c.834G>T (p.Leu278Phe) c.576G>T (p.Leu192Phe) c.541-846G>T n.1107G>T n.1074G>T | dbSNP |
| 19 | g.11110669G>A | CA404082627 | LDLR | c.1216G>A (p.Asp406Asn) c.958G>A (p.Asp320Asn) c.941-845G>A (n.941-845G>A) c.1212G>A c.454G>A (p.Asp152Asn) c.835G>A (p.Asp279Asn) c.577G>A (p.Asp193Asn) c.541-845G>A n.1108G>A n.1075G>A | |
| 19 | g.11110669G>C | CA404082628 | LDLR | c.1216G>C (p.Asp406His) c.958G>C (p.Asp320His) c.941-845G>C (n.941-845G>C) c.1212G>C c.454G>C (p.Asp152His) c.835G>C (p.Asp279His) c.577G>C (p.Asp193His) c.541-845G>C n.1108G>C n.1075G>C | gnomAD v4 |
| 19 | g.11110669G>T | CA404082629 | LDLR | c.1216G>T (p.Asp406Tyr) c.958G>T (p.Asp320Tyr) c.941-845G>T (n.941-845G>T) c.1212G>T c.454G>T (p.Asp152Tyr) c.835G>T (p.Asp279Tyr) c.577G>T (p.Asp193Tyr) c.541-845G>T n.1108G>T n.1075G>T | |
| 19 | g.11110669_11110672delinsGACA | CA2322770225 | LDLR | c.1216_1219delinsGACA (p.Asp406=) c.958_961delinsGACA (p.Asp320=) c.941-845_941-842delinsGACA (n.941-845_941-842delinsGACA) c.1212_1215delinsGACA c.454_457delinsGACA (p.Asp152=) c.835_838delinsGACA (p.Asp279=) c.577_580delinsGACA (p.Asp193=) c.541-845_541-842delinsGACA n.1108_1111delinsGACA n.1075_1078delinsGACA | |
| 19 | g.11110670A>C | CA404082632 | LDLR | c.1217A>C (p.Asp406Ala) c.959A>C (p.Asp320Ala) c.941-844A>C (n.941-844A>C) c.1213A>C c.455A>C (p.Asp152Ala) c.836A>C (p.Asp279Ala) c.578A>C (p.Asp193Ala) c.541-844A>C n.1109A>C n.1076A>C | |
| 19 | g.11110670A>G | CA404082630 | LDLR | c.1217A>G (p.Asp406Gly) c.959A>G (p.Asp320Gly) c.941-844A>G (n.941-844A>G) c.1213A>G c.455A>G (p.Asp152Gly) c.836A>G (p.Asp279Gly) c.578A>G (p.Asp193Gly) c.541-844A>G n.1109A>G n.1076A>G | |
| 19 | g.11110670A>T | CA404082631 | LDLR | c.1217A>T (p.Asp406Val) c.959A>T (p.Asp320Val) c.941-844A>T (n.941-844A>T) c.1213A>T c.455A>T (p.Asp152Val) c.836A>T (p.Asp279Val) c.578A>T (p.Asp193Val) c.541-844A>T n.1109A>T n.1076A>T | gnomAD v4 |
| 19 | g.11110675_11110677del | CA10585229 | LDLR | c.1222_1224del (p.Asn408del) c.964_966del (p.Asn322del) c.941-839_941-837del (n.941-839_941-837del) c.1218_1220del c.460_462del (p.Asn154del) c.841_843del (p.Asn281del) c.583_585del (p.Asn195del) c.541-839_541-837del n.1114_1116del n.1081_1083del | ClinVar dbSNP |
| 19 | g.11110671del | CA2695198129 | LDLR | c.1218del (p.Asp406GlufsTer?) c.960del (p.Asp320GlufsTer?) c.941-843del (n.941-843del) c.1214del c.456del (p.Asp152GlufsTer?) c.837del (p.Asp279GlufsTer?) c.579del (p.Asp193GlufsTer?) c.541-843del n.1110del n.1077del | ClinVar |
| 19 | g.11110671C>A | CA404082633 | LDLR | c.1218C>A (p.Asp406Glu) c.960C>A (p.Asp320Glu) c.941-843C>A (n.941-843C>A) c.1214C>A c.456C>A (p.Asp152Glu) c.837C>A (p.Asp279Glu) c.579C>A (p.Asp193Glu) c.541-843C>A n.1110C>A n.1077C>A | |
| 19 | g.11110671C= | CA2322770228 | LDLR | c.1218C= (p.Asp406=) c.960C= (p.Asp320=) c.941-843C= (n.941-843C=) c.1214C= c.456C= (p.Asp152=) c.837C= (p.Asp279=) c.579C= (p.Asp193=) c.541-843C= n.1110C= n.1077C= | |
| 19 | g.11110671C>G | CA404082634 | LDLR | c.1218C>G (p.Asp406Glu) c.960C>G (p.Asp320Glu) c.941-843C>G (n.941-843C>G) c.1214C>G c.456C>G (p.Asp152Glu) c.837C>G (p.Asp279Glu) c.579C>G (p.Asp193Glu) c.541-843C>G n.1110C>G n.1077C>G | |
| 19 | g.11110671C>T | CA505485325 | LDLR | c.1218C>T (p.Asp406=) c.960C>T (p.Asp320=) c.941-843C>T (n.941-843C>T) c.1214C>T c.456C>T (p.Asp152=) c.837C>T (p.Asp279=) c.579C>T (p.Asp193=) c.541-843C>T n.1110C>T n.1077C>T | dbSNP |
| 19 | g.11110671_11110672delinsCA | CA2322770226 | LDLR | c.1218_1219delinsCA (p.Asp406=) c.960_961delinsCA (p.Asp320=) c.941-843_941-842delinsCA (n.941-843_941-842delinsCA) c.1214_1215delinsCA c.456_457delinsCA (p.Asp152=) c.837_838delinsCA (p.Asp279=) c.579_580delinsCA (p.Asp193=) c.541-843_541-842delinsCA n.1110_1111delinsCA n.1077_1078delinsCA | |
| 19 | g.11110671_11110673delinsCAA | CA2322770227 | LDLR | c.1218_1220delinsCAA (p.Asp406=) c.960_962delinsCAA (p.Asp320=) c.941-843_941-841delinsCAA (n.941-843_941-841delinsCAA) c.1214_1216delinsCAA c.456_458delinsCAA (p.Asp152=) c.837_839delinsCAA (p.Asp279=) c.579_581delinsCAA (p.Asp193=) c.541-843_541-841delinsCAA n.1110_1112delinsCAA n.1077_1079delinsCAA | |
| 19 | g.11110672A>C | CA404082635 | LDLR | c.1219A>C (p.Asn407His) c.961A>C (p.Asn321His) c.941-842A>C (n.941-842A>C) c.1215A>C c.457A>C (p.Asn153His) c.838A>C (p.Asn280His) c.580A>C (p.Asn194His) c.541-842A>C n.1111A>C n.1078A>C | |
| 19 | g.11110672A>G | CA404082636 | LDLR | c.1219A>G (p.Asn407Asp) c.961A>G (p.Asn321Asp) c.941-842A>G (n.941-842A>G) c.1215A>G c.457A>G (p.Asn153Asp) c.838A>G (p.Asn280Asp) c.580A>G (p.Asn194Asp) c.541-842A>G n.1111A>G n.1078A>G | |
| 19 | g.11110672A>T | CA404082637 | LDLR | c.1219A>T (p.Asn407Tyr) c.961A>T (p.Asn321Tyr) c.941-842A>T (n.941-842A>T) c.1215A>T c.457A>T (p.Asn153Tyr) c.838A>T (p.Asn280Tyr) c.580A>T (p.Asn194Tyr) c.541-842A>T n.1111A>T n.1078A>T | |
| 19 | g.11110672_11110673del | CA10585228 | LDLR | c.1219_1220del (p.Asn407GlnfsTer10) c.961_962del (p.Asn321GlnfsTer10) c.941-842_941-841del (n.941-842_941-841del) c.1215_1216del c.457_458del (p.Asn153GlnfsTer10) c.838_839del (p.Asn280GlnfsTer10) c.580_581del (p.Asn194GlnfsTer10) c.541-842_541-841del n.1111_1112del n.1078_1079del | ClinVar dbSNP |
| 19 | g.11110673del | CA645509273 | LDLR | c.1220del (p.Asn407ThrfsTer?) c.962del (p.Asn321ThrfsTer?) c.941-841del (n.941-841del) c.1216del c.458del (p.Asn153ThrfsTer?) c.839del (p.Asn280ThrfsTer?) c.581del (p.Asn194ThrfsTer?) c.541-841del n.1112del n.1079del | ClinVar dbSNP |
| 19 | g.11110673A= | CA2322770229 | LDLR | c.1220A= (p.Asn407=) c.962A= (p.Asn321=) c.941-841A= (n.941-841A=) c.1216A= c.458A= (p.Asn153=) c.839A= (p.Asn280=) c.581A= (p.Asn194=) c.541-841A= n.1112A= n.1079A= | |
| 19 | g.11110673A>C | CA404082638 | LDLR | c.1220A>C (p.Asn407Thr) c.962A>C (p.Asn321Thr) c.941-841A>C (n.941-841A>C) c.1216A>C c.458A>C (p.Asn153Thr) c.839A>C (p.Asn280Thr) c.581A>C (p.Asn194Thr) c.541-841A>C n.1112A>C n.1079A>C | |
| 19 | g.11110673A>G | CA404082639 | LDLR | c.1220A>G (p.Asn407Ser) c.962A>G (p.Asn321Ser) c.941-841A>G (n.941-841A>G) c.1216A>G c.458A>G (p.Asn153Ser) c.839A>G (p.Asn280Ser) c.581A>G (p.Asn194Ser) c.541-841A>G n.1112A>G n.1079A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11110673A>T | CA404082640 | LDLR | c.1220A>T (p.Asn407Ile) c.962A>T (p.Asn321Ile) c.941-841A>T (n.941-841A>T) c.1216A>T c.458A>T (p.Asn153Ile) c.839A>T (p.Asn280Ile) c.581A>T (p.Asn194Ile) c.541-841A>T n.1112A>T n.1079A>T | |
| 19 | g.11110674C>A | CA404082641 | LDLR | c.1221C>A (p.Asn407Lys) c.963C>A (p.Asn321Lys) c.941-840C>A (n.941-840C>A) c.1217C>A c.459C>A (p.Asn153Lys) c.840C>A (p.Asn280Lys) c.582C>A (p.Asn194Lys) c.541-840C>A n.1113C>A n.1080C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11110674C= | CA2322770230 | LDLR | c.1221C= (p.Asn407=) c.963C= (p.Asn321=) c.941-840C= (n.941-840C=) c.1217C= c.459C= (p.Asn153=) c.840C= (p.Asn280=) c.582C= (p.Asn194=) c.541-840C= n.1113C= n.1080C= | |
| 19 | g.11110674C>G | CA404082642 | LDLR | c.1221C>G (p.Asn407Lys) c.963C>G (p.Asn321Lys) c.941-840C>G (n.941-840C>G) c.1217C>G c.459C>G (p.Asn153Lys) c.840C>G (p.Asn280Lys) c.582C>G (p.Asn194Lys) c.541-840C>G n.1113C>G n.1080C>G | |
| 19 | g.11110674C>T | CA505485328 | LDLR | c.1221C>T (p.Asn407=) c.963C>T (p.Asn321=) c.941-840C>T (n.941-840C>T) c.1217C>T c.459C>T (p.Asn153=) c.840C>T (p.Asn280=) c.582C>T (p.Asn194=) c.541-840C>T n.1113C>T n.1080C>T | gnomAD v4 |
| 19 | g.11110675A>C | CA404082644 | LDLR | c.1222A>C (p.Asn408His) c.964A>C (p.Asn322His) c.941-839A>C (n.941-839A>C) c.1218A>C c.460A>C (p.Asn154His) c.841A>C (p.Asn281His) c.583A>C (p.Asn195His) c.541-839A>C n.1114A>C n.1081A>C | |
| 19 | g.11110675A>G | CA404082643 | LDLR | c.1222A>G (p.Asn408Asp) c.964A>G (p.Asn322Asp) c.941-839A>G (n.941-839A>G) c.1218A>G c.460A>G (p.Asn154Asp) c.841A>G (p.Asn281Asp) c.583A>G (p.Asn195Asp) c.541-839A>G n.1114A>G n.1081A>G | |
| 19 | g.11110675A>T | CA404082645 | LDLR | c.1222A>T (p.Asn408Tyr) c.964A>T (p.Asn322Tyr) c.941-839A>T (n.941-839A>T) c.1218A>T c.460A>T (p.Asn154Tyr) c.841A>T (p.Asn281Tyr) c.583A>T (p.Asn195Tyr) c.541-839A>T n.1114A>T n.1081A>T |