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.11105330_11105336del | CA10584915 | LDLR | c.682_688del (p.Ser228ArgfsTer?) c.424_430del (p.Ser142ArgfsTer?) c.678_684del c.314-2062_314-2056del (n.314-2062_314-2056del) c.301_307del (p.Ser101ArgfsTer?) c.314-1235_314-1229del (n.314-1235_314-1229del) c.24_30del n.574_580del n.541_547del | ClinVar dbSNP |
| 19 | g.11105335C>A | CA043532 | LDLR | c.687C>A (p.Cys229Ter) c.429C>A (p.Cys143Ter) c.683C>A c.314-2057C>A (n.314-2057C>A) c.306C>A (p.Cys102Ter) c.314-1230C>A (n.314-1230C>A) c.29C>A n.579C>A n.546C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11105335C= | CA2322767377 | LDLR | c.687C= (p.Cys229=) c.429C= (p.Cys143=) c.683C= c.314-2057C= (n.314-2057C=) c.306C= (p.Cys102=) c.314-1230C= (n.314-1230C=) c.29C= n.579C= n.546C= | |
| 19 | g.11105335C>G | CA404076419 | LDLR | c.687C>G (p.Cys229Trp) c.429C>G (p.Cys143Trp) c.683C>G c.314-2057C>G (n.314-2057C>G) c.306C>G (p.Cys102Trp) c.314-1230C>G (n.314-1230C>G) c.29C>G n.579C>G n.546C>G | |
| 19 | g.11105335C>T | CA505743063 | LDLR | c.687C>T (p.Cys229=) c.429C>T (p.Cys143=) c.683C>T c.314-2057C>T (n.314-2057C>T) c.306C>T (p.Cys102=) c.314-1230C>T (n.314-1230C>T) c.29C>T n.579C>T n.546C>T | gnomAD v4 |
| 19 | g.11105337dup | CA2582473460 | LDLR | c.689dup (p.Val231GlyfsTer?) c.431dup (p.Val145GlyfsTer?) c.685dup c.314-2055dup (n.314-2055dup) c.308dup (p.Val104GlyfsTer?) c.314-1228dup (n.314-1228dup) c.31dup n.581dup n.548dup | gnomAD v4 |
| 19 | g.11105336C>A | CA404076422 | LDLR | c.688C>A (p.Pro230Thr) c.430C>A (p.Pro144Thr) c.684C>A c.314-2056C>A (n.314-2056C>A) c.307C>A (p.Pro103Thr) c.314-1229C>A (n.314-1229C>A) c.30C>A n.580C>A n.547C>A | |
| 19 | g.11105336C= | CA2322767378 | LDLR | c.688C= (p.Pro230=) c.430C= (p.Pro144=) c.684C= c.314-2056C= (n.314-2056C=) c.307C= (p.Pro103=) c.314-1229C= (n.314-1229C=) c.30C= n.580C= n.547C= | |
| 19 | g.11105336C>G | CA404076425 | LDLR | c.688C>G (p.Pro230Ala) c.430C>G (p.Pro144Ala) c.684C>G c.314-2056C>G (n.314-2056C>G) c.307C>G (p.Pro103Ala) c.314-1229C>G (n.314-1229C>G) c.30C>G n.580C>G n.547C>G | |
| 19 | g.11105336C>T | CA404076427 | LDLR | c.688C>T (p.Pro230Ser) c.430C>T (p.Pro144Ser) c.684C>T c.314-2056C>T (n.314-2056C>T) c.307C>T (p.Pro103Ser) c.314-1229C>T (n.314-1229C>T) c.30C>T n.580C>T n.547C>T | |
| 19 | g.11105337C>A | CA404076429 | LDLR | c.689C>A (p.Pro230Gln) c.431C>A (p.Pro144Gln) c.685C>A c.314-2055C>A (n.314-2055C>A) c.308C>A (p.Pro103Gln) c.314-1228C>A (n.314-1228C>A) c.31C>A n.581C>A n.548C>A | |
| 19 | g.11105337C= | CA2322767379 | LDLR | c.689C= (p.Pro230=) c.431C= (p.Pro144=) c.685C= c.314-2055C= (n.314-2055C=) c.308C= (p.Pro103=) c.314-1228C= (n.314-1228C=) c.31C= n.581C= n.548C= | |
| 19 | g.11105337C>G | CA404076432 | LDLR | c.689C>G (p.Pro230Arg) c.431C>G (p.Pro144Arg) c.685C>G c.314-2055C>G (n.314-2055C>G) c.308C>G (p.Pro103Arg) c.314-1228C>G (n.314-1228C>G) c.31C>G n.581C>G n.548C>G | ClinVar dbSNP |
| 19 | g.11105337C>T | CA305296798 | LDLR | c.689C>T (p.Pro230Leu) c.431C>T (p.Pro144Leu) c.685C>T c.314-2055C>T (n.314-2055C>T) c.308C>T (p.Pro103Leu) c.314-1228C>T (n.314-1228C>T) c.31C>T n.581C>T n.548C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105337_11105340dup | CA10584918 | LDLR | c.689_692dup (p.Leu232GlyfsTer?) c.431_434dup (p.Leu146GlyfsTer?) c.685_688dup c.314-2055_314-2052dup (n.314-2055_314-2052dup) c.308_311dup (p.Leu105GlyfsTer?) c.314-1228_314-1225dup (n.314-1228_314-1225dup) c.31_34dup n.581_584dup n.548_551dup | ClinVar dbSNP |
| 19 | g.11105338G>A | CA043545 | LDLR | c.690G>A (p.Pro230=) c.432G>A (p.Pro144=) c.686G>A c.314-2054G>A (n.314-2054G>A) c.309G>A (p.Pro103=) c.314-1227G>A (n.314-1227G>A) c.32G>A n.582G>A n.549G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105338G>C | CA505743067 | LDLR | c.690G>C (p.Pro230=) c.432G>C (p.Pro144=) c.686G>C c.314-2054G>C (n.314-2054G>C) c.309G>C (p.Pro103=) c.314-1227G>C (n.314-1227G>C) c.32G>C n.582G>C n.549G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105338G= | CA2322767380 | LDLR | c.690G= (p.Pro230=) c.432G= (p.Pro144=) c.686G= c.314-2054G= (n.314-2054G=) c.309G= (p.Pro103=) c.314-1227G= (n.314-1227G=) c.32G= n.582G= n.549G= | |
| 19 | g.11105338G>T | CA505743064 | LDLR | c.690G>T (p.Pro230=) c.432G>T (p.Pro144=) c.686G>T c.314-2054G>T (n.314-2054G>T) c.309G>T (p.Pro103=) c.314-1227G>T (n.314-1227G>T) c.32G>T n.582G>T n.549G>T | gnomAD v4 |
| 19 | g.11105339dup | CA1139666291 | LDLR | c.691dup (p.Val231GlyfsTer?) c.433dup (p.Val145GlyfsTer?) c.687dup c.314-2053dup (n.314-2053dup) c.310dup (p.Val104GlyfsTer?) c.314-1226dup (n.314-1226dup) c.33dup n.583dup n.550dup | ClinVar dbSNP |
| 19 | g.11105338_11105339insA | CA2497030116 | LDLR | c.690_691insA (p.Val231SerfsTer?) c.432_433insA (p.Val145SerfsTer?) c.686_687insA c.314-2054_314-2053insA (n.314-2054_314-2053insA) c.309_310insA (p.Val104SerfsTer?) c.314-1227_314-1226insA (n.314-1227_314-1226insA) c.32_33insA n.582_583insA n.549_550insA | |
| 19 | g.11105339G>A | CA404076435 | LDLR | c.691G>A (p.Val231Met) c.433G>A (p.Val145Met) c.687G>A c.314-2053G>A (n.314-2053G>A) c.310G>A (p.Val104Met) c.314-1226G>A (n.314-1226G>A) c.33G>A n.583G>A n.550G>A | |
| 19 | g.11105339G>C | CA404076437 | LDLR | c.691G>C (p.Val231Leu) c.433G>C (p.Val145Leu) c.687G>C c.314-2053G>C (n.314-2053G>C) c.310G>C (p.Val104Leu) c.314-1226G>C (n.314-1226G>C) c.33G>C n.583G>C n.550G>C | |
| 19 | g.11105339G>T | CA404076439 | LDLR | c.691G>T (p.Val231Leu) c.433G>T (p.Val145Leu) c.687G>T c.314-2053G>T (n.314-2053G>T) c.310G>T (p.Val104Leu) c.314-1226G>T (n.314-1226G>T) c.33G>T n.583G>T n.550G>T | |
| 19 | g.11105340T>A | CA404076441 | LDLR | c.692T>A (p.Val231Glu) c.434T>A (p.Val145Glu) c.688T>A c.314-2052T>A (n.314-2052T>A) c.311T>A (p.Val104Glu) c.314-1225T>A (n.314-1225T>A) c.34T>A n.584T>A n.551T>A | |
| 19 | g.11105340T>C | CA043591 | LDLR | c.692T>C (p.Val231Ala) c.434T>C (p.Val145Ala) c.688T>C c.314-2052T>C (n.314-2052T>C) c.311T>C (p.Val104Ala) c.314-1225T>C (n.314-1225T>C) c.34T>C n.584T>C n.551T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11105340T>G | CA404076444 | LDLR | c.692T>G (p.Val231Gly) c.434T>G (p.Val145Gly) c.688T>G c.314-2052T>G (n.314-2052T>G) c.311T>G (p.Val104Gly) c.314-1225T>G (n.314-1225T>G) c.34T>G n.584T>G n.551T>G | |
| 19 | g.11105340T= | CA2322767381 | LDLR | c.692T= (p.Val231=) c.434T= (p.Val145=) c.688T= c.314-2052T= (n.314-2052T=) c.311T= (p.Val104=) c.314-1225T= (n.314-1225T=) c.34T= n.584T= n.551T= | |
| 19 | g.11105341_11105363del | CA2582473461 | LDLR | c.693_715del (p.Leu232ProfsTer26) c.435_457del (p.Leu146ProfsTer26) c.689_711del c.314-2051_314-2029del (n.314-2051_314-2029del) c.312_334del (p.Leu105ProfsTer26) c.314-1224_314-1202del (n.314-1224_314-1202del) c.35_57del n.585_607del n.552_574del | gnomAD v4 |
| 19 | g.11105341G>A | CA505743071 | LDLR | c.693G>A (p.Val231=) c.435G>A (p.Val145=) c.689G>A c.314-2051G>A (n.314-2051G>A) c.312G>A (p.Val104=) c.314-1224G>A (n.314-1224G>A) c.35G>A n.585G>A n.552G>A | |
| 19 | g.11105341G>C | CA505743072 | LDLR | c.693G>C (p.Val231=) c.435G>C (p.Val145=) c.689G>C c.314-2051G>C (n.314-2051G>C) c.312G>C (p.Val104=) c.314-1224G>C (n.314-1224G>C) c.35G>C n.585G>C n.552G>C | gnomAD v4 |
| 19 | g.11105341G>T | CA505743073 | LDLR | c.693G>T (p.Val231=) c.435G>T (p.Val145=) c.689G>T c.314-2051G>T (n.314-2051G>T) c.312G>T (p.Val104=) c.314-1224G>T (n.314-1224G>T) c.35G>T n.585G>T n.552G>T | |
| 19 | g.11105342C>A | CA404076446 | LDLR | c.694C>A (p.Leu232Ile) c.436C>A (p.Leu146Ile) c.690C>A c.314-2050C>A (n.314-2050C>A) c.313C>A (p.Leu105Ile) c.314-1223C>A (n.314-1223C>A) c.36C>A n.586C>A n.553C>A | |
| 19 | g.11105342C= | CA2322767382 | LDLR | c.694C= (p.Leu232=) c.436C= (p.Leu146=) c.690C= c.314-2050C= (n.314-2050C=) c.313C= (p.Leu105=) c.314-1223C= (n.314-1223C=) c.36C= n.586C= n.553C= | |
| 19 | g.11105342C>G | CA404076450 | LDLR | c.694C>G (p.Leu232Val) c.436C>G (p.Leu146Val) c.690C>G c.314-2050C>G (n.314-2050C>G) c.313C>G (p.Leu105Val) c.314-1223C>G (n.314-1223C>G) c.36C>G n.586C>G n.553C>G | |
| 19 | g.11105342C>T | CA404076448 | LDLR | c.694C>T (p.Leu232Phe) c.436C>T (p.Leu146Phe) c.690C>T c.314-2050C>T (n.314-2050C>T) c.313C>T (p.Leu105Phe) c.314-1223C>T (n.314-1223C>T) c.36C>T n.586C>T n.553C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105343T>A | CA404076452 | LDLR | c.695T>A (p.Leu232His) c.437T>A (p.Leu146His) c.691T>A c.314-2049T>A (n.314-2049T>A) c.314T>A (p.Leu105His) c.314-1222T>A (n.314-1222T>A) c.37T>A n.587T>A n.554T>A |