Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11100222_11107515delCA658824387LDLRc.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
19g.11101932_11106610delCA1139666288LDLRc.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
19g.11102141_11108134delCA2573050561LDLRc.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
19g.11102152_11108145delCA10584784LDLRc.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
19g.11102477_11108484delCA2573050562LDLRc.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
19g.11102664_11105600delCA2580061394LDLRc.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
19g.11102664_11106687delCA10584788LDLRc.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
19g.11102663_11107515delCA658824388LDLRc.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
19g.11102785_11107393delCA916084172LDLRc.570_1077del
c.312_819del
c.566_1073del
c.312_315del
c.191-2435_696del
c.312_438del
n.462_969del
n.429_936del
19g.11104109_11109216delCA2573050567LDLRc.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
19g.11104774_11112892dupCA2580612594LDLRc.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
19g.11105158_11111699dupCA2580612596LDLRc.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
19g.11105170_11111689dupCA2580612597LDLRc.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
19g.11105273_11105298delinsTCTCGGCAGTTCGTCTGTGACTCAGACA2322767320LDLRc.625_650delinsTCTCGGCAGTTCGTCTGTGACTCAGA (p.Ser209=)
c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA (p.Ser123=)
c.621_646delinsTCTCGGCAGTTCGTCTGTGACTCAGA
c.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGTGACTCAGA (n.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGTGACTCAGA)
c.244_269delinsTCTCGGCAGTTCGTCTGTGACTCAGA (p.Ser82=)
c.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGACTCAGA (n.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGACTCAGA)
n.517_542delinsTCTCGGCAGTTCGTCTGTGACTCAGA
n.484_509delinsTCTCGGCAGTTCGTCTGTGACTCAGA
19g.11105275_11105299delCA10584882LDLRc.627_651del (p.Arg210GlyfsTer?)
c.369_393del (p.Arg124GlyfsTer?)
c.623_647del
c.314-2117_314-2093del (n.314-2117_314-2093del)
c.246_270del (p.Arg83GlyfsTer?)
c.314-1290_314-1266del (n.314-1290_314-1266del)
n.519_543del
n.486_510del
 ClinVar dbSNP
19g.11105279_11105285delCA2573155732LDLRc.631_637del (p.Gln211SerfsTer?)
c.373_379del (p.Gln125SerfsTer?)
c.627_633del
c.314-2113_314-2107del (n.314-2113_314-2107del)
c.250_256del (p.Gln84SerfsTer?)
c.314-1286_314-1280del (n.314-1286_314-1280del)
n.523_529del
n.490_496del
 ClinVar dbSNP
19g.11105279_11105289delinsAAGTGCACA2580096428LDLRc.631_641delinsAAGTGCA (p.Gln211LysfsTer?)
c.373_383delinsAAGTGCA (p.Gln125LysfsTer?)
c.627_637delinsAAGTGCA
c.314-2113_314-2103delinsAAGTGCA (n.314-2113_314-2103delinsAAGTGCA)
c.250_260delinsAAGTGCA (p.Gln84LysfsTer?)
c.314-1286_314-1276delinsAAGTGCA (n.314-1286_314-1276delinsAAGTGCA)
n.523_533delinsAAGTGCA
n.490_500delinsAAGTGCA
 ClinVar
19g.11105281_11105287delCA2582473458LDLRc.633_639del (p.Gln211HisfsTer?)
c.375_381del (p.Gln125HisfsTer?)
c.629_635del
c.314-2111_314-2105del (n.314-2111_314-2105del)
c.252_258del (p.Gln84HisfsTer?)
c.314-1284_314-1278del (n.314-1284_314-1278del)
n.525_531del
n.492_498del
 gnomAD v4
19g.11105284_11105285delinsCGCA2322767332LDLRc.636_637delinsCG (p.Phe212=)
c.378_379delinsCG (p.Phe126=)
c.632_633delinsCG
c.314-2108_314-2107delinsCG (n.314-2108_314-2107delinsCG)
c.255_256delinsCG (p.Phe85=)
c.314-1281_314-1280delinsCG (n.314-1281_314-1280delinsCG)
n.528_529delinsCG
n.495_496delinsCG
19g.11105285delCA10583774LDLRc.637del (p.Val213SerfsTer?)
c.379del (p.Val127SerfsTer?)
c.633del
c.314-2107del (n.314-2107del)
c.256del (p.Val86SerfsTer?)
c.314-1280del (n.314-1280del)
n.529del
n.496del
 ClinVar dbSNP
19g.11105285G>ACA404076322LDLRc.637G>A (p.Val213Ile)
c.379G>A (p.Val127Ile)
c.633G>A
c.314-2107G>A (n.314-2107G>A)
c.256G>A (p.Val86Ile)
c.314-1280G>A (n.314-1280G>A)
n.529G>A
n.496G>A
 ClinVar dbSNP gnomAD v4
19g.11105285G>CCA404076323LDLRc.637G>C (p.Val213Leu)
c.379G>C (p.Val127Leu)
c.633G>C
c.314-2107G>C (n.314-2107G>C)
c.256G>C (p.Val86Leu)
c.314-1280G>C (n.314-1280G>C)
n.529G>C
n.496G>C
19g.11105285G>TCA404076324LDLRc.637G>T (p.Val213Phe)
c.379G>T (p.Val127Phe)
c.633G>T
c.314-2107G>T (n.314-2107G>T)
c.256G>T (p.Val86Phe)
c.314-1280G>T (n.314-1280G>T)
n.529G>T
n.496G>T
19g.11105286T>ACA10584890LDLRc.638T>A (p.Val213Asp)
c.380T>A (p.Val127Asp)
c.634T>A
c.314-2106T>A (n.314-2106T>A)
c.257T>A (p.Val86Asp)
c.314-1279T>A (n.314-1279T>A)
n.530T>A
n.497T>A
 ClinVar dbSNP
19g.11105286T>CCA404076325LDLRc.638T>C (p.Val213Ala)
c.380T>C (p.Val127Ala)
c.634T>C
c.314-2106T>C (n.314-2106T>C)
c.257T>C (p.Val86Ala)
c.314-1279T>C (n.314-1279T>C)
n.530T>C
n.497T>C
 ClinVar
19g.11105286T>GCA404076326LDLRc.638T>G (p.Val213Gly)
c.380T>G (p.Val127Gly)
c.634T>G
c.314-2106T>G (n.314-2106T>G)
c.257T>G (p.Val86Gly)
c.314-1279T>G (n.314-1279T>G)
n.530T>G
n.497T>G
 ClinVar dbSNP
19g.11105286T=CA2322767333LDLRc.638T= (p.Val213=)
c.380T= (p.Val127=)
c.634T=
c.314-2106T= (n.314-2106T=)
c.257T= (p.Val86=)
c.314-1279T= (n.314-1279T=)
n.530T=
n.497T=
19g.11105287C>ACA505742192LDLRc.639C>A (p.Val213=)
c.381C>A (p.Val127=)
c.635C>A
c.314-2105C>A (n.314-2105C>A)
c.258C>A (p.Val86=)
c.314-1278C>A (n.314-1278C>A)
n.531C>A
n.498C>A
19g.11105287C>GCA505742194LDLRc.639C>G (p.Val213=)
c.381C>G (p.Val127=)
c.635C>G
c.314-2105C>G (n.314-2105C>G)
c.258C>G (p.Val86=)
c.314-1278C>G (n.314-1278C>G)
n.531C>G
n.498C>G
19g.11105287C>TCA505742193LDLRc.639C>T (p.Val213=)
c.381C>T (p.Val127=)
c.635C>T
c.314-2105C>T (n.314-2105C>T)
c.258C>T (p.Val86=)
c.314-1278C>T (n.314-1278C>T)
n.531C>T
n.498C>T
19g.11105287_11105291delinsCTGTGCA2322767334LDLRc.639_643delinsCTGTG (p.Val213=)
c.381_385delinsCTGTG (p.Val127=)
c.635_639delinsCTGTG
c.314-2105_314-2101delinsCTGTG (n.314-2105_314-2101delinsCTGTG)
c.258_262delinsCTGTG (p.Val86=)
c.314-1278_314-1274delinsCTGTG (n.314-1278_314-1274delinsCTGTG)
n.531_535delinsCTGTG
n.498_502delinsCTGTG
19g.11105288delCA2580096431LDLRc.640del (p.Cys214ValfsTer?)
c.382del (p.Cys128ValfsTer?)
c.636del
c.314-2104del (n.314-2104del)
c.259del (p.Cys87ValfsTer?)
c.314-1277del (n.314-1277del)
n.532del
n.499del
 ClinVar
19g.11105288T>ACA404076327LDLRc.640T>A (p.Cys214Ser)
c.382T>A (p.Cys128Ser)
c.636T>A
c.314-2104T>A (n.314-2104T>A)
c.259T>A (p.Cys87Ser)
c.314-1277T>A (n.314-1277T>A)
n.532T>A
n.499T>A
 gnomAD v4
19g.11105288T>CCA10584891LDLRc.640T>C (p.Cys214Arg)
c.382T>C (p.Cys128Arg)
c.636T>C
c.314-2104T>C (n.314-2104T>C)
c.259T>C (p.Cys87Arg)
c.314-1277T>C (n.314-1277T>C)
n.532T>C
n.499T>C
 ClinVar dbSNP
19g.11105288T>GCA404076328LDLRc.640T>G (p.Cys214Gly)
c.382T>G (p.Cys128Gly)
c.636T>G
c.314-2104T>G (n.314-2104T>G)
c.259T>G (p.Cys87Gly)
c.314-1277T>G (n.314-1277T>G)
n.532T>G
n.499T>G
 ClinVar dbSNP
19g.11105288T=CA2322767335LDLRc.640T= (p.Cys214=)
c.382T= (p.Cys128=)
c.636T=
c.314-2104T= (n.314-2104T=)
c.259T= (p.Cys87=)
c.314-1277T= (n.314-1277T=)
n.532T=
n.499T=
19g.11105288_11105291delCA10584892LDLRc.640_643del (p.Cys214ThrfsTer?)
c.382_385del (p.Cys128ThrfsTer?)
c.636_639del
c.314-2104_314-2101del (n.314-2104_314-2101del)
c.259_262del (p.Cys87ThrfsTer?)
c.314-1277_314-1274del (n.314-1277_314-1274del)
n.532_535del
n.499_502del
 ClinVar dbSNP
19g.11105289G>ACA16602299LDLRc.641G>A (p.Cys214Tyr)
c.383G>A (p.Cys128Tyr)
c.637G>A
c.314-2103G>A (n.314-2103G>A)
c.260G>A (p.Cys87Tyr)
c.314-1276G>A (n.314-1276G>A)
n.533G>A
n.500G>A
 ClinVar dbSNP
19g.11105289G>CCA16609803LDLRc.641G>C (p.Cys214Ser)
c.383G>C (p.Cys128Ser)
c.637G>C
c.314-2103G>C (n.314-2103G>C)
c.260G>C (p.Cys87Ser)
c.314-1276G>C (n.314-1276G>C)
n.533G>C
n.500G>C
 ClinVar dbSNP
19g.11105289G=CA2322767336LDLRc.641G= (p.Cys214=)
c.383G= (p.Cys128=)
c.637G=
c.314-2103G= (n.314-2103G=)
c.260G= (p.Cys87=)
c.314-1276G= (n.314-1276G=)
n.533G=
n.500G=
19g.11105289G>TCA10584893LDLRc.641G>T (p.Cys214Phe)
c.383G>T (p.Cys128Phe)
c.637G>T
c.314-2103G>T (n.314-2103G>T)
c.260G>T (p.Cys87Phe)
c.314-1276G>T (n.314-1276G>T)
n.533G>T
n.500G>T
 ClinVar dbSNP
19g.11105290T>ACA404076329LDLRc.642T>A (p.Cys214Ter)
c.384T>A (p.Cys128Ter)
c.638T>A
c.314-2102T>A (n.314-2102T>A)
c.261T>A (p.Cys87Ter)
c.314-1275T>A (n.314-1275T>A)
n.534T>A
n.501T>A
19g.11105290T>CCA305296771LDLRc.642T>C (p.Cys214=)
c.384T>C (p.Cys128=)
c.638T>C
c.314-2102T>C (n.314-2102T>C)
c.261T>C (p.Cys87=)
c.314-1275T>C (n.314-1275T>C)
n.534T>C
n.501T>C
 dbSNP
19g.11105290T>GCA404076330LDLRc.642T>G (p.Cys214Trp)
c.384T>G (p.Cys128Trp)
c.638T>G
c.314-2102T>G (n.314-2102T>G)
c.261T>G (p.Cys87Trp)
c.314-1275T>G (n.314-1275T>G)
n.534T>G
n.501T>G
19g.11105290T=CA2322767337LDLRc.642T= (p.Cys214=)
c.384T= (p.Cys128=)
c.638T=
c.314-2102T= (n.314-2102T=)
c.261T= (p.Cys87=)
c.314-1275T= (n.314-1275T=)
n.534T=
n.501T=
19g.11105291G>ACA404076331LDLRc.643G>A (p.Asp215Asn)
c.385G>A (p.Asp129Asn)
c.639G>A
c.314-2101G>A (n.314-2101G>A)
c.262G>A (p.Asp88Asn)
c.314-1274G>A (n.314-1274G>A)
n.535G>A
n.502G>A
 ClinVar dbSNP
19g.11105291G>CCA404076332LDLRc.643G>C (p.Asp215His)
c.385G>C (p.Asp129His)
c.639G>C
c.314-2101G>C (n.314-2101G>C)
c.262G>C (p.Asp88His)
c.314-1274G>C (n.314-1274G>C)
n.535G>C
n.502G>C
19g.11105291G=CA2322767338LDLRc.643G= (p.Asp215=)
c.385G= (p.Asp129=)
c.639G=
c.314-2101G= (n.314-2101G=)
c.262G= (p.Asp88=)
c.314-1274G= (n.314-1274G=)
n.535G=
n.502G=
19g.11105291G>TCA404076333LDLRc.643G>T (p.Asp215Tyr)
c.385G>T (p.Asp129Tyr)
c.639G>T
c.314-2101G>T (n.314-2101G>T)
c.262G>T (p.Asp88Tyr)
c.314-1274G>T (n.314-1274G>T)
n.535G>T
n.502G>T
19g.11105292A=CA2322767339LDLRc.644A= (p.Asp215=)
c.386A= (p.Asp129=)
c.640A=
c.314-2100A= (n.314-2100A=)
c.263A= (p.Asp88=)
c.314-1273A= (n.314-1273A=)
n.536A=
n.503A=

Number of alleles fetched