| 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.11105253_11105273del | CA10584865 | LDLR | c.605_625del (p.Cys202_Ile208del) c.347_367del (p.Cys116_Ile122del) c.601_621del c.314-2139_314-2119del (n.314-2139_314-2119del) c.224_244del (p.Cys75_Ile81del) c.314-1312_314-1292del (n.314-1312_314-1292del) n.497_517del n.464_484del | ClinVar dbSNP |
| 19 | g.11105256_11105278dup | CA10584867 | LDLR | c.608_630dup (p.Gln211ThrfsTer?) c.350_372dup (p.Gln125ThrfsTer?) c.604_626dup c.314-2136_314-2114dup (n.314-2136_314-2114dup) c.227_249dup (p.Gln84ThrfsTer?) c.314-1309_314-1287dup (n.314-1309_314-1287dup) n.500_522dup n.467_489dup | ClinVar dbSNP |
| 19 | g.11105264_11105279delinsAAGTGCATCTCTCGGC | CA2322767310 | LDLR | c.616_631delinsAAGTGCATCTCTCGGC (p.Lys206=) c.358_373delinsAAGTGCATCTCTCGGC (p.Lys120=) c.612_627delinsAAGTGCATCTCTCGGC c.314-2128_314-2113delinsAAGTGCATCTCTCGGC (n.314-2128_314-2113delinsAAGTGCATCTCTCGGC) c.235_250delinsAAGTGCATCTCTCGGC (p.Lys79=) c.314-1301_314-1286delinsAAGTGCATCTCTCGGC (n.314-1301_314-1286delinsAAGTGCATCTCTCGGC) n.508_523delinsAAGTGCATCTCTCGGC n.475_490delinsAAGTGCATCTCTCGGC | |
| 19 | g.11105268_11105282del | CA658653698 | LDLR | c.620_634del (p.Cys207_Gln211del) c.362_376del (p.Cys121_Gln125del) c.616_630del c.314-2124_314-2110del (n.314-2124_314-2110del) c.239_253del (p.Cys80_Gln84del) c.314-1297_314-1283del (n.314-1297_314-1283del) n.512_526del n.479_493del | ClinVar dbSNP |
| 19 | g.11105275_11105276dup | CA2695238676 | LDLR | c.627_628dup (p.Arg210LeufsTer?) c.369_370dup (p.Arg124LeufsTer?) c.623_624dup c.314-2117_314-2116dup (n.314-2117_314-2116dup) c.246_247dup (p.Arg83LeufsTer?) c.314-1290_314-1289dup (n.314-1290_314-1289dup) n.519_520dup n.486_487dup | |
| 19 | g.11105275_11105276del | CA10584881 | LDLR | c.627_628del (p.Arg210AlafsTer5) c.369_370del (p.Arg124AlafsTer5) c.623_624del c.314-2117_314-2116del (n.314-2117_314-2116del) c.246_247del (p.Arg83AlafsTer5) c.314-1290_314-1289del (n.314-1290_314-1289del) n.519_520del n.486_487del | ClinVar dbSNP |
| 19 | g.11105273T>A | CA10584879 | LDLR | c.625T>A (p.Ser209Thr) c.367T>A (p.Ser123Thr) c.621T>A c.314-2119T>A (n.314-2119T>A) c.244T>A (p.Ser82Thr) c.314-1292T>A (n.314-1292T>A) n.517T>A n.484T>A | ClinVar dbSNP |
| 19 | g.11105273T>C | CA10584880 | LDLR | c.625T>C (p.Ser209Pro) c.367T>C (p.Ser123Pro) c.621T>C c.314-2119T>C (n.314-2119T>C) c.244T>C (p.Ser82Pro) c.314-1292T>C (n.314-1292T>C) n.517T>C n.484T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105273T>G | CA404076305 | LDLR | c.625T>G (p.Ser209Ala) c.367T>G (p.Ser123Ala) c.621T>G c.314-2119T>G (n.314-2119T>G) c.244T>G (p.Ser82Ala) c.314-1292T>G (n.314-1292T>G) n.517T>G n.484T>G | |
| 19 | g.11105273T= | CA2322767319 | LDLR | c.625T= (p.Ser209=) c.367T= (p.Ser123=) c.621T= c.314-2119T= (n.314-2119T=) c.244T= (p.Ser82=) c.314-1292T= (n.314-1292T=) n.517T= n.484T= | |
| 19 | g.11105273_11105298delinsTCTCGGCAGTTCGTCTGTGACTCAGA | CA2322767320 | LDLR | c.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 | |
| 19 | g.11105274C>A | CA404076307 | LDLR | c.626C>A (p.Ser209Tyr) c.368C>A (p.Ser123Tyr) c.622C>A c.314-2118C>A (n.314-2118C>A) c.245C>A (p.Ser82Tyr) c.314-1291C>A (n.314-1291C>A) n.518C>A n.485C>A | |
| 19 | g.11105274C= | CA2322767321 | LDLR | c.626C= (p.Ser209=) c.368C= (p.Ser123=) c.622C= c.314-2118C= (n.314-2118C=) c.245C= (p.Ser82=) c.314-1291C= (n.314-1291C=) n.518C= n.485C= | |
| 19 | g.11105274C>G | CA404076306 | LDLR | c.626C>G (p.Ser209Cys) c.368C>G (p.Ser123Cys) c.622C>G c.314-2118C>G (n.314-2118C>G) c.245C>G (p.Ser82Cys) c.314-1291C>G (n.314-1291C>G) n.518C>G n.485C>G | ClinVar dbSNP |
| 19 | g.11105274C>T | CA404076308 | LDLR | c.626C>T (p.Ser209Phe) c.368C>T (p.Ser123Phe) c.622C>T c.314-2118C>T (n.314-2118C>T) c.245C>T (p.Ser82Phe) c.314-1291C>T (n.314-1291C>T) n.518C>T n.485C>T | dbSNP |
| 19 | g.11105275_11105299del | CA10584882 | LDLR | c.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 |
| 19 | g.11105275T>A | CA505742184 | LDLR | c.627T>A (p.Ser209=) c.369T>A (p.Ser123=) c.623T>A c.314-2117T>A (n.314-2117T>A) c.246T>A (p.Ser82=) c.314-1290T>A (n.314-1290T>A) n.519T>A n.486T>A | |
| 19 | g.11105275T>C | CA505742185 | LDLR | c.627T>C (p.Ser209=) c.369T>C (p.Ser123=) c.623T>C c.314-2117T>C (n.314-2117T>C) c.246T>C (p.Ser82=) c.314-1290T>C (n.314-1290T>C) n.519T>C n.486T>C | |
| 19 | g.11105275T>G | CA043324 | LDLR | c.627T>G (p.Ser209=) c.369T>G (p.Ser123=) c.623T>G c.314-2117T>G (n.314-2117T>G) c.246T>G (p.Ser82=) c.314-1290T>G (n.314-1290T>G) n.519T>G n.486T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11105275T= | CA2322767323 | LDLR | c.627T= (p.Ser209=) c.369T= (p.Ser123=) c.623T= c.314-2117T= (n.314-2117T=) c.246T= (p.Ser82=) c.314-1290T= (n.314-1290T=) n.519T= n.486T= | |
| 19 | g.11105275_11105277delinsTCG | CA2322767322 | LDLR | c.627_629delinsTCG (p.Ser209=) c.369_371delinsTCG (p.Ser123=) c.623_625delinsTCG c.314-2117_314-2115delinsTCG (n.314-2117_314-2115delinsTCG) c.246_248delinsTCG (p.Ser82=) c.314-1290_314-1288delinsTCG (n.314-1290_314-1288delinsTCG) n.519_521delinsTCG n.486_488delinsTCG | |
| 19 | g.11105275_11105276insGCCA | CA2322767324 | LDLR | c.627_628insGCCA (p.Arg210AlafsTer7) c.369_370insGCCA (p.Arg124AlafsTer7) c.623_624insGCCA c.314-2117_314-2116insGCCA (n.314-2117_314-2116insGCCA) c.246_247insGCCA (p.Arg83AlafsTer7) c.314-1290_314-1289insGCCA (n.314-1290_314-1289insGCCA) n.519_520insGCCA n.486_487insGCCA | dbSNP |
| 19 | g.11105276C>A | CA505742186 | LDLR | c.628C>A (p.Arg210=) c.370C>A (p.Arg124=) c.624C>A c.314-2116C>A (n.314-2116C>A) c.247C>A (p.Arg83=) c.314-1289C>A (n.314-1289C>A) n.520C>A n.487C>A | |
| 19 | g.11105276C= | CA2322767325 | LDLR | c.628C= (p.Arg210=) c.370C= (p.Arg124=) c.624C= c.314-2116C= (n.314-2116C=) c.247C= (p.Arg83=) c.314-1289C= (n.314-1289C=) n.520C= n.487C= | |
| 19 | g.11105276C>G | CA10584883 | LDLR | c.628C>G (p.Arg210Gly) c.370C>G (p.Arg124Gly) c.624C>G c.314-2116C>G (n.314-2116C>G) c.247C>G (p.Arg83Gly) c.314-1289C>G (n.314-1289C>G) n.520C>G n.487C>G | ClinVar dbSNP |
| 19 | g.11105276C>T | CA10584884 | LDLR | c.628C>T (p.Arg210Trp) c.370C>T (p.Arg124Trp) c.624C>T c.314-2116C>T (n.314-2116C>T) c.247C>T (p.Arg83Trp) c.314-1289C>T (n.314-1289C>T) n.520C>T n.487C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.11105276dup | CA10654843 | LDLR | c.628dup (p.Arg210ProfsTer6) c.370dup (p.Arg124ProfsTer6) c.624dup c.314-2116dup (n.314-2116dup) c.247dup (p.Arg83ProfsTer6) c.314-1289dup (n.314-1289dup) n.520dup n.487dup | ClinVar dbSNP |
| 19 | g.11105276_11105277delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT | CA1139666290 | LDLR | c.628_629delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg210delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal) c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal) c.624_625delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT c.314-2116_314-2115delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (n.314-2116_314-2115delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT) c.247_248delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg83delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal) c.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (n.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT) n.520_521delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT n.487_488delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT | ClinVar dbSNP |
| 19 | g.11105277G>A | CA305296763 | LDLR | c.629G>A (p.Arg210Gln) c.371G>A (p.Arg124Gln) c.625G>A c.314-2115G>A (n.314-2115G>A) c.248G>A (p.Arg83Gln) c.314-1288G>A (n.314-1288G>A) n.521G>A n.488G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105277G>C | CA404076309 | LDLR | c.629G>C (p.Arg210Pro) c.371G>C (p.Arg124Pro) c.625G>C c.314-2115G>C (n.314-2115G>C) c.248G>C (p.Arg83Pro) c.314-1288G>C (n.314-1288G>C) n.521G>C n.488G>C | ClinVar dbSNP |
| 19 | g.11105277G= | CA2322767326 | LDLR | c.629G= (p.Arg210=) c.371G= (p.Arg124=) c.625G= c.314-2115G= (n.314-2115G=) c.248G= (p.Arg83=) c.314-1288G= (n.314-1288G=) n.521G= n.488G= | |
| 19 | g.11105277G>T | CA404076310 | LDLR | c.629G>T (p.Arg210Leu) c.371G>T (p.Arg124Leu) c.625G>T c.314-2115G>T (n.314-2115G>T) c.248G>T (p.Arg83Leu) c.314-1288G>T (n.314-1288G>T) n.521G>T n.488G>T | |
| 19 | g.11105278del | CA2695223193 | LDLR | c.630del (p.Gln211SerfsTer?) c.372del (p.Gln125SerfsTer?) c.626del c.314-2114del (n.314-2114del) c.249del (p.Gln84SerfsTer?) c.314-1287del (n.314-1287del) n.522del n.489del | |
| 19 | g.11105277_11105278insC | CA10584885 | LDLR | c.629_630insC (p.Gln211AlafsTer5) c.371_372insC (p.Gln125AlafsTer5) c.625_626insC c.314-2115_314-2114insC (n.314-2115_314-2114insC) c.248_249insC (p.Gln84AlafsTer5) c.314-1288_314-1287insC (n.314-1288_314-1287insC) n.521_522insC n.488_489insC | ClinVar dbSNP |
| 19 | g.11105278G>A | CA505742187 | LDLR | c.630G>A (p.Arg210=) c.372G>A (p.Arg124=) c.626G>A c.314-2114G>A (n.314-2114G>A) c.249G>A (p.Arg83=) c.314-1287G>A (n.314-1287G>A) n.522G>A n.489G>A | |
| 19 | g.11105278G>C | CA505742188 | LDLR | c.630G>C (p.Arg210=) c.372G>C (p.Arg124=) c.626G>C c.314-2114G>C (n.314-2114G>C) c.249G>C (p.Arg83=) c.314-1287G>C (n.314-1287G>C) n.522G>C n.489G>C | |
| 19 | g.11105278G>T | CA505742189 | LDLR | c.630G>T (p.Arg210=) c.372G>T (p.Arg124=) c.626G>T c.314-2114G>T (n.314-2114G>T) c.249G>T (p.Arg83=) c.314-1287G>T (n.314-1287G>T) n.522G>T n.489G>T |