WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11100222_11107515del | CA658824387 | LDLR | c.326-1_1198+1del c.68-1_940+1del c.322-1_1194+1del c.68-1_436+1del c.68-1_817+1del c.68-1_559+1del n.218-1_1090+1del n.185-1_1057+1del | ClinVar |
| 19 | g.11101932_11106610del | CA1139666288 | LDLR | c.449-732_998del c.191-732_740del c.445-732_994del c.191-732_314-782del c.190+1587_617del c.191-732_359del n.341-732_890del n.308-732_857del | ClinVar |
| 19 | g.11102141_11108134del | CA2573050561 | LDLR | c.449-523_1198+620del c.191-523_940+620del c.445-523_1194+620del c.191-523_436+620del c.190+1796_817+620del c.191-523_559+620del n.341-523_1090+620del n.308-523_1057+620del | |
| 19 | g.11102152_11108145del | CA10584784 | LDLR | c.449-512_1198+631del c.191-512_940+631del c.445-512_1194+631del c.191-512_436+631del c.190+1807_817+631del c.191-512_559+631del n.341-512_1090+631del n.308-512_1057+631del | ClinVar |
| 19 | g.11102477_11108484del | CA2573050562 | LDLR | c.449-187_1198+970del c.191-187_940+970del c.445-187_1194+970del c.191-187_436+970del c.190+2132_817+970del c.191-187_559+970del n.341-187_1090+970del n.308-187_1057+970del | |
| 19 | g.11102664_11105600del | CA2580061394 | LDLR | c.449_952del c.191_694del c.445_948del c.191_314-1792del c.190+2319_571del c.191_314-965del n.341_844del n.308_811del | ClinVar |
| 19 | g.11102664_11106687del | CA10584788 | LDLR | c.449_1075del c.191_817del c.445_1071del c.191_314-705del c.190+2319_694del c.191_436del n.341_967del n.308_934del | |
| 19 | g.11102663_11107515del | CA658824388 | LDLR | c.449-1_1198+1del c.191-1_940+1del c.445-1_1194+1del c.191-1_436+1del c.190+2318_817+1del c.191-1_559+1del n.341-1_1090+1del n.308-1_1057+1del | ClinVar |
| 19 | g.11102785_11107393del | CA916084172 | LDLR | c.570_1077del c.312_819del c.566_1073del c.312_315del c.191-2435_696del c.312_438del n.462_969del n.429_936del | |
| 19 | g.11104109_11109216del | CA2573050567 | LDLR | c.572-1111_1199-1436del c.314-1111_941-1436del c.314-1111_940+1702del c.568-1111_1195-1436del c.313+1323_437-1436del c.191-1111_818-1436del c.313+1323_560-1436del n.464-1111_1091-1436del n.431-1111_1058-1436del | |
| 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.11105352_11110660del | CA915941069 | LDLR | c.704_1207del c.446_949del c.446_941-854del c.700_1203del c.314-2040_445del c.323_826del c.314-1213_568del c.46_541-854del n.596_1099del n.563_1066del | |
| 19 | g.11105459_11105460delinsAG | CA2322767484 | LDLR | c.811_812delinsAG (p.Arg271=) c.553_554delinsAG (p.Arg185=) c.807_808delinsAG c.314-1933_314-1932delinsAG (n.314-1933_314-1932delinsAG) c.430_431delinsAG (p.Arg144=) c.314-1106_314-1105delinsAG (n.314-1106_314-1105delinsAG) c.153_154delinsAG n.703_704delinsAG n.670_671delinsAG | |
| 19 | g.11105460G>A | CA404077242 | LDLR | c.812G>A (p.Arg271Lys) c.554G>A (p.Arg185Lys) c.808G>A c.314-1932G>A (n.314-1932G>A) c.431G>A (p.Arg144Lys) c.314-1105G>A (n.314-1105G>A) c.154G>A n.704G>A n.671G>A | |
| 19 | g.11105460G>C | CA404077245 | LDLR | c.812G>C (p.Arg271Thr) c.554G>C (p.Arg185Thr) c.808G>C c.314-1932G>C (n.314-1932G>C) c.431G>C (p.Arg144Thr) c.314-1105G>C (n.314-1105G>C) c.154G>C n.704G>C n.671G>C | gnomAD v4 |
| 19 | g.11105460G>T | CA404077238 | LDLR | c.812G>T (p.Arg271Met) c.554G>T (p.Arg185Met) c.808G>T c.314-1932G>T (n.314-1932G>T) c.431G>T (p.Arg144Met) c.314-1105G>T (n.314-1105G>T) c.154G>T n.704G>T n.671G>T | |
| 19 | g.11105463dup | CA645509260 | LDLR | c.815dup (p.Leu273SerfsTer9) c.557dup (p.Leu187SerfsTer9) c.811dup c.314-1929dup (n.314-1929dup) c.434dup (p.Leu146SerfsTer9) c.314-1102dup (n.314-1102dup) c.157dup n.707dup n.674dup | ClinVar dbSNP |
| 19 | g.11105463del | CA10584986 | LDLR | c.815del (p.Gly272ValfsTer20) c.557del (p.Gly186ValfsTer20) c.811del c.314-1929del (n.314-1929del) c.434del (p.Gly145ValfsTer20) c.314-1102del (n.314-1102del) c.157del n.707del n.674del | ClinVar dbSNP |
| 19 | g.11105461G>A | CA505743370 | LDLR | c.813G>A (p.Arg271=) c.555G>A (p.Arg185=) c.809G>A c.314-1931G>A (n.314-1931G>A) c.432G>A (p.Arg144=) c.314-1104G>A (n.314-1104G>A) c.155G>A n.705G>A n.672G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105461G>C | CA404077250 | LDLR | c.813G>C (p.Arg271Ser) c.555G>C (p.Arg185Ser) c.809G>C c.314-1931G>C (n.314-1931G>C) c.432G>C (p.Arg144Ser) c.314-1104G>C (n.314-1104G>C) c.155G>C n.705G>C n.672G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105461G= | CA2322767485 | LDLR | c.813G= (p.Arg271=) c.555G= (p.Arg185=) c.809G= c.314-1931G= (n.314-1931G=) c.432G= (p.Arg144=) c.314-1104G= (n.314-1104G=) c.155G= n.705G= n.672G= | |
| 19 | g.11105461G>T | CA404077255 | LDLR | c.813G>T (p.Arg271Ser) c.555G>T (p.Arg185Ser) c.809G>T c.314-1931G>T (n.314-1931G>T) c.432G>T (p.Arg144Ser) c.314-1104G>T (n.314-1104G>T) c.155G>T n.705G>T n.672G>T | |
| 19 | g.11105462G>A | CA404077257 | LDLR | c.814G>A (p.Gly272Ser) c.556G>A (p.Gly186Ser) c.810G>A c.314-1930G>A (n.314-1930G>A) c.433G>A (p.Gly145Ser) c.314-1103G>A (n.314-1103G>A) c.156G>A n.706G>A n.673G>A | gnomAD v4 |
| 19 | g.11105462G>C | CA404077259 | LDLR | c.814G>C (p.Gly272Arg) c.556G>C (p.Gly186Arg) c.810G>C c.314-1930G>C (n.314-1930G>C) c.433G>C (p.Gly145Arg) c.314-1103G>C (n.314-1103G>C) c.156G>C n.706G>C n.673G>C | |
| 19 | g.11105462G>T | CA404077261 | LDLR | c.814G>T (p.Gly272Cys) c.556G>T (p.Gly186Cys) c.810G>T c.314-1930G>T (n.314-1930G>T) c.433G>T (p.Gly145Cys) c.314-1103G>T (n.314-1103G>T) c.156G>T n.706G>T n.673G>T | |
| 19 | g.11105463G>A | CA404077265 | LDLR | c.815G>A (p.Gly272Asp) c.557G>A (p.Gly186Asp) c.811G>A c.314-1929G>A (n.314-1929G>A) c.434G>A (p.Gly145Asp) c.314-1102G>A (n.314-1102G>A) c.157G>A n.707G>A n.674G>A | |
| 19 | g.11105463G>C | CA404077268 | LDLR | c.815G>C (p.Gly272Ala) c.557G>C (p.Gly186Ala) c.811G>C c.314-1929G>C (n.314-1929G>C) c.434G>C (p.Gly145Ala) c.314-1102G>C (n.314-1102G>C) c.157G>C n.707G>C n.674G>C | |
| 19 | g.11105463G>T | CA404077285 | LDLR | c.815G>T (p.Gly272Val) c.557G>T (p.Gly186Val) c.811G>T c.314-1929G>T (n.314-1929G>T) c.434G>T (p.Gly145Val) c.314-1102G>T (n.314-1102G>T) c.157G>T n.707G>T n.674G>T | |
| 19 | g.11105463_11105474delinsGTCTTTACGTGT | CA2322767486 | LDLR | c.815_826delinsGTCTTTACGTGT (p.Gly272=) c.557_568delinsGTCTTTACGTGT (p.Gly186=) c.811_822delinsGTCTTTACGTGT c.314-1929_314-1918delinsGTCTTTACGTGT (n.314-1929_314-1918delinsGTCTTTACGTGT) c.434_445delinsGTCTTTACGTGT (p.Gly145=) c.314-1102_314-1091delinsGTCTTTACGTGT (n.314-1102_314-1091delinsGTCTTTACGTGT) c.157_168delinsGTCTTTACGTGT n.707_718delinsGTCTTTACGTGT n.674_685delinsGTCTTTACGTGT | |
| 19 | g.11105464T>A | CA505743376 | LDLR | c.816T>A (p.Gly272=) c.558T>A (p.Gly186=) c.812T>A c.314-1928T>A (n.314-1928T>A) c.435T>A (p.Gly145=) c.314-1101T>A (n.314-1101T>A) c.158T>A n.708T>A n.675T>A | |
| 19 | g.11105464T>C | CA505743374 | LDLR | c.816T>C (p.Gly272=) c.558T>C (p.Gly186=) c.812T>C c.314-1928T>C (n.314-1928T>C) c.435T>C (p.Gly145=) c.314-1101T>C (n.314-1101T>C) c.158T>C n.708T>C n.675T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105464T>G | CA505743375 | LDLR | c.816T>G (p.Gly272=) c.558T>G (p.Gly186=) c.812T>G c.314-1928T>G (n.314-1928T>G) c.435T>G (p.Gly145=) c.314-1101T>G (n.314-1101T>G) c.158T>G n.708T>G n.675T>G | |
| 19 | g.11105464T= | CA2322767487 | LDLR | c.816T= (p.Gly272=) c.558T= (p.Gly186=) c.812T= c.314-1928T= (n.314-1928T=) c.435T= (p.Gly145=) c.314-1101T= (n.314-1101T=) c.158T= n.708T= n.675T= | |
| 19 | g.11105465_11105468dup | CA2695238654 | LDLR | c.817_820dup (p.Tyr274SerfsTer9) c.559_562dup (p.Tyr188SerfsTer9) c.813_816dup c.314-1927_314-1924dup (n.314-1927_314-1924dup) c.436_439dup (p.Tyr147SerfsTer9) c.314-1100_314-1097dup (n.314-1100_314-1097dup) c.159_162dup n.709_712dup n.676_679dup | |
| 19 | g.11105466_11105476del | CA1139666250 | LDLR | c.818_828del (p.Leu273ProfsTer5) c.560_570del (p.Leu187ProfsTer5) c.814_824del c.314-1926_314-1916del (n.314-1926_314-1916del) c.437_447del (p.Leu146ProfsTer5) c.314-1099_314-1089del (n.314-1099_314-1089del) c.160_170del n.710_720del n.677_687del | ClinVar dbSNP |
| 19 | g.11105464_11105465insG | CA10584987 | LDLR | c.816_817insG (p.Leu273AlafsTer9) c.558_559insG (p.Leu187AlafsTer9) c.812_813insG c.314-1928_314-1927insG (n.314-1928_314-1927insG) c.435_436insG (p.Leu146AlafsTer9) c.314-1101_314-1100insG (n.314-1101_314-1100insG) c.158_159insG n.708_709insG n.675_676insG | ClinVar dbSNP |
| 19 | g.11105465C>A | CA404077299 | LDLR | c.817C>A (p.Leu273Ile) c.559C>A (p.Leu187Ile) c.813C>A c.314-1927C>A (n.314-1927C>A) c.436C>A (p.Leu146Ile) c.314-1100C>A (n.314-1100C>A) c.159C>A n.709C>A n.676C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105465C= | CA2322767489 | LDLR | c.817C= (p.Leu273=) c.559C= (p.Leu187=) c.813C= c.314-1927C= (n.314-1927C=) c.436C= (p.Leu146=) c.314-1100C= (n.314-1100C=) c.159C= n.709C= n.676C= | |
| 19 | g.11105465C>G | CA404077295 | LDLR | c.817C>G (p.Leu273Val) c.559C>G (p.Leu187Val) c.813C>G c.314-1927C>G (n.314-1927C>G) c.436C>G (p.Leu146Val) c.314-1100C>G (n.314-1100C>G) c.159C>G n.709C>G n.676C>G | |
| 19 | g.11105465C>T | CA404077291 | LDLR | c.817C>T (p.Leu273Phe) c.559C>T (p.Leu187Phe) c.813C>T c.314-1927C>T (n.314-1927C>T) c.436C>T (p.Leu146Phe) c.314-1100C>T (n.314-1100C>T) c.159C>T n.709C>T n.676C>T | |
| 19 | g.11105465_11105467delinsCTT | CA2322767488 | LDLR | c.817_819delinsCTT (p.Leu273=) c.559_561delinsCTT (p.Leu187=) c.813_815delinsCTT c.314-1927_314-1925delinsCTT (n.314-1927_314-1925delinsCTT) c.436_438delinsCTT (p.Leu146=) c.314-1100_314-1098delinsCTT (n.314-1100_314-1098delinsCTT) c.159_161delinsCTT n.709_711delinsCTT n.676_678delinsCTT | |
| 19 | g.11105466T>A | CA404077309 | LDLR | c.818T>A (p.Leu273His) c.560T>A (p.Leu187His) c.814T>A c.314-1926T>A (n.314-1926T>A) c.437T>A (p.Leu146His) c.314-1099T>A (n.314-1099T>A) c.160T>A n.710T>A n.677T>A | |
| 19 | g.11105466T>C | CA404077313 | LDLR | c.818T>C (p.Leu273Pro) c.560T>C (p.Leu187Pro) c.814T>C c.314-1926T>C (n.314-1926T>C) c.437T>C (p.Leu146Pro) c.314-1099T>C (n.314-1099T>C) c.160T>C n.710T>C n.677T>C | |
| 19 | g.11105466T>G | CA404077314 | LDLR | c.818T>G (p.Leu273Arg) c.560T>G (p.Leu187Arg) c.814T>G c.314-1926T>G (n.314-1926T>G) c.437T>G (p.Leu146Arg) c.314-1099T>G (n.314-1099T>G) c.160T>G n.710T>G n.677T>G | |
| 19 | g.11105468del | CA10584989 | LDLR | c.820del (p.Tyr274ThrfsTer18) c.562del (p.Tyr188ThrfsTer18) c.816del c.314-1924del (n.314-1924del) c.439del (p.Tyr147ThrfsTer18) c.314-1097del (n.314-1097del) c.162del n.712del n.679del | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105467_11105468del | CA10584988 | LDLR | c.819_820del (p.Tyr274ArgfsTer7) c.561_562del (p.Tyr188ArgfsTer7) c.815_816del c.314-1925_314-1924del (n.314-1925_314-1924del) c.438_439del (p.Tyr147ArgfsTer7) c.314-1098_314-1097del (n.314-1098_314-1097del) c.161_162del n.711_712del n.678_679del | ClinVar dbSNP |
| 19 | g.11105467T>A | CA505743379 | LDLR | c.819T>A (p.Leu273=) c.561T>A (p.Leu187=) c.815T>A c.314-1925T>A (n.314-1925T>A) c.438T>A (p.Leu146=) c.314-1098T>A (n.314-1098T>A) c.161T>A n.711T>A n.678T>A | |
| 19 | g.11105467T>C | CA505743380 | LDLR | c.819T>C (p.Leu273=) c.561T>C (p.Leu187=) c.815T>C c.314-1925T>C (n.314-1925T>C) c.438T>C (p.Leu146=) c.314-1098T>C (n.314-1098T>C) c.161T>C n.711T>C n.678T>C |