| 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.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.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.11105469_11105475del | CA2497030121 | LDLR | c.821_827del (p.Tyr274SerfsTer16) c.563_569del (p.Tyr188SerfsTer16) c.817_823del c.314-1923_314-1917del (n.314-1923_314-1917del) c.440_446del (p.Tyr147SerfsTer16) c.314-1096_314-1090del (n.314-1096_314-1090del) c.163_169del n.713_719del n.680_686del | |
| 19 | g.11105470_11105471delinsCG | CA2322767494 | LDLR | c.822_823delinsCG (p.Tyr274=) c.564_565delinsCG (p.Tyr188=) c.818_819delinsCG c.314-1922_314-1921delinsCG (n.314-1922_314-1921delinsCG) c.441_442delinsCG (p.Tyr147=) c.314-1095_314-1094delinsCG (n.314-1095_314-1094delinsCG) c.164_165delinsCG n.714_715delinsCG n.681_682delinsCG | |
| 19 | g.11105470_11105474delinsCGTGT | CA2322767493 | LDLR | c.822_826delinsCGTGT (p.Tyr274=) c.564_568delinsCGTGT (p.Tyr188=) c.818_822delinsCGTGT c.314-1922_314-1918delinsCGTGT (n.314-1922_314-1918delinsCGTGT) c.441_445delinsCGTGT (p.Tyr147=) c.314-1095_314-1091delinsCGTGT (n.314-1095_314-1091delinsCGTGT) c.164_168delinsCGTGT n.714_718delinsCGTGT n.681_685delinsCGTGT | |
| 19 | g.11105471del | CA645509261 | LDLR | c.823del (p.Val275CysfsTer17) c.565del (p.Val189CysfsTer17) c.819del c.314-1921del (n.314-1921del) c.442del (p.Val148CysfsTer17) c.314-1094del (n.314-1094del) c.165del n.715del n.682del | ClinVar dbSNP |
| 19 | g.11105471G>A | CA10584991 | LDLR | c.823G>A (p.Val275Met) c.565G>A (p.Val189Met) c.819G>A c.314-1921G>A (n.314-1921G>A) c.442G>A (p.Val148Met) c.314-1094G>A (n.314-1094G>A) c.165G>A n.715G>A n.682G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105471G>C | CA043955 | LDLR | c.823G>C (p.Val275Leu) c.565G>C (p.Val189Leu) c.819G>C c.314-1921G>C (n.314-1921G>C) c.442G>C (p.Val148Leu) c.314-1094G>C (n.314-1094G>C) c.165G>C n.715G>C n.682G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105471G= | CA2322767496 | LDLR | c.823G= (p.Val275=) c.565G= (p.Val189=) c.819G= c.314-1921G= (n.314-1921G=) c.442G= (p.Val148=) c.314-1094G= (n.314-1094G=) c.165G= n.715G= n.682G= | |
| 19 | g.11105471G>T | CA404077348 | LDLR | c.823G>T (p.Val275Leu) c.565G>T (p.Val189Leu) c.819G>T c.314-1921G>T (n.314-1921G>T) c.442G>T (p.Val148Leu) c.314-1094G>T (n.314-1094G>T) c.165G>T n.715G>T n.682G>T | COSMIC |
| 19 | g.11105471_11105474delinsTG | CA645373226 | LDLR | c.823_826delinsTG (p.Val275CysfsTer6) c.565_568delinsTG (p.Val189CysfsTer6) c.819_822delinsTG c.314-1921_314-1918delinsTG (n.314-1921_314-1918delinsTG) c.442_445delinsTG (p.Val148CysfsTer6) c.314-1094_314-1091delinsTG (n.314-1094_314-1091delinsTG) c.165_168delinsTG n.715_718delinsTG n.682_685delinsTG | ClinVar dbSNP |
| 19 | g.11105471_11105494delinsGTGTTCCAAGGGGACAGTAGCCCC | CA2322767495 | LDLR | c.823_846delinsGTGTTCCAAGGGGACAGTAGCCCC (p.Val275=) c.565_588delinsGTGTTCCAAGGGGACAGTAGCCCC (p.Val189=) c.819_842delinsGTGTTCCAAGGGGACAGTAGCCCC c.314-1921_314-1898delinsGTGTTCCAAGGGGACAGTAGCCCC (n.314-1921_314-1898delinsGTGTTCCAAGGGGACAGTAGCCCC) c.442_465delinsGTGTTCCAAGGGGACAGTAGCCCC (p.Val148=) c.314-1094_314-1071delinsGTGTTCCAAGGGGACAGTAGCCCC (n.314-1094_314-1071delinsGTGTTCCAAGGGGACAGTAGCCCC) c.165_188delinsGTGTTCCAAGGGGACAGTAGCCCC n.715_738delinsGTGTTCCAAGGGGACAGTAGCCCC n.682_705delinsGTGTTCCAAGGGGACAGTAGCCCC | |
| 19 | g.11105472T>A | CA404077352 | LDLR | c.824T>A (p.Val275Glu) c.566T>A (p.Val189Glu) c.820T>A c.314-1920T>A (n.314-1920T>A) c.443T>A (p.Val148Glu) c.314-1093T>A (n.314-1093T>A) c.166T>A n.716T>A n.683T>A | |
| 19 | g.11105472T>C | CA404077362 | LDLR | c.824T>C (p.Val275Ala) c.566T>C (p.Val189Ala) c.820T>C c.314-1920T>C (n.314-1920T>C) c.443T>C (p.Val148Ala) c.314-1093T>C (n.314-1093T>C) c.166T>C n.716T>C n.683T>C | |
| 19 | g.11105472T>G | CA404077365 | LDLR | c.824T>G (p.Val275Gly) c.566T>G (p.Val189Gly) c.820T>G c.314-1920T>G (n.314-1920T>G) c.443T>G (p.Val148Gly) c.314-1093T>G (n.314-1093T>G) c.166T>G n.716T>G n.683T>G | |
| 19 | g.11105474_11105496del | CA10584992 | LDLR | c.826_848del (p.Phe276LeufsTer20) c.568_590del (p.Phe190LeufsTer20) c.822_844del c.314-1918_314-1896del (n.314-1918_314-1896del) c.445_467del (p.Phe149LeufsTer20) c.314-1091_314-1069del (n.314-1091_314-1069del) c.168_190del n.718_740del n.685_707del | ClinVar dbSNP |
| 19 | g.11105473G>A | CA505743390 | LDLR | c.825G>A (p.Val275=) c.567G>A (p.Val189=) c.821G>A c.314-1919G>A (n.314-1919G>A) c.444G>A (p.Val148=) c.314-1092G>A (n.314-1092G>A) c.167G>A n.717G>A n.684G>A | dbSNP |
| 19 | g.11105473G>C | CA505743392 | LDLR | c.825G>C (p.Val275=) c.567G>C (p.Val189=) c.821G>C c.314-1919G>C (n.314-1919G>C) c.444G>C (p.Val148=) c.314-1092G>C (n.314-1092G>C) c.167G>C n.717G>C n.684G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105473G= | CA2322767497 | LDLR | c.825G= (p.Val275=) c.567G= (p.Val189=) c.821G= c.314-1919G= (n.314-1919G=) c.444G= (p.Val148=) c.314-1092G= (n.314-1092G=) c.167G= n.717G= n.684G= | |
| 19 | g.11105473G>T | CA043979 | LDLR | c.825G>T (p.Val275=) c.567G>T (p.Val189=) c.821G>T c.314-1919G>T (n.314-1919G>T) c.444G>T (p.Val148=) c.314-1092G>T (n.314-1092G>T) c.167G>T n.717G>T n.684G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11105474T>A | CA404077388 | LDLR | c.826T>A (p.Phe276Ile) c.568T>A (p.Phe190Ile) c.822T>A c.314-1918T>A (n.314-1918T>A) c.445T>A (p.Phe149Ile) c.314-1091T>A (n.314-1091T>A) c.168T>A n.718T>A n.685T>A | |
| 19 | g.11105474T>C | CA404077392 | LDLR | c.826T>C (p.Phe276Leu) c.568T>C (p.Phe190Leu) c.822T>C c.314-1918T>C (n.314-1918T>C) c.445T>C (p.Phe149Leu) c.314-1091T>C (n.314-1091T>C) c.168T>C n.718T>C n.685T>C | |
| 19 | g.11105474T>G | CA404077396 | LDLR | c.826T>G (p.Phe276Val) c.568T>G (p.Phe190Val) c.822T>G c.314-1918T>G (n.314-1918T>G) c.445T>G (p.Phe149Val) c.314-1091T>G (n.314-1091T>G) c.168T>G n.718T>G n.685T>G | |
| 19 | g.11105475T>A | CA404077414 | LDLR | c.827T>A (p.Phe276Tyr) c.569T>A (p.Phe190Tyr) c.823T>A c.314-1917T>A (n.314-1917T>A) c.446T>A (p.Phe149Tyr) c.314-1090T>A (n.314-1090T>A) c.169T>A n.719T>A n.686T>A | |
| 19 | g.11105475T>C | CA404077404 | LDLR | c.827T>C (p.Phe276Ser) c.569T>C (p.Phe190Ser) c.823T>C c.314-1917T>C (n.314-1917T>C) c.446T>C (p.Phe149Ser) c.314-1090T>C (n.314-1090T>C) c.169T>C n.719T>C n.686T>C | |
| 19 | g.11105475T>G | CA404077401 | LDLR | c.827T>G (p.Phe276Cys) c.569T>G (p.Phe190Cys) c.823T>G c.314-1917T>G (n.314-1917T>G) c.446T>G (p.Phe149Cys) c.314-1090T>G (n.314-1090T>G) c.169T>G n.719T>G n.686T>G | |
| 19 | g.11105476C>A | CA404077419 | LDLR | c.828C>A (p.Phe276Leu) c.570C>A (p.Phe190Leu) c.824C>A c.314-1916C>A (n.314-1916C>A) c.447C>A (p.Phe149Leu) c.314-1089C>A (n.314-1089C>A) c.170C>A n.720C>A n.687C>A | |
| 19 | g.11105476C= | CA2322767498 | LDLR | c.828C= (p.Phe276=) c.570C= (p.Phe190=) c.824C= c.314-1916C= (n.314-1916C=) c.447C= (p.Phe149=) c.314-1089C= (n.314-1089C=) c.170C= n.720C= n.687C= | |
| 19 | g.11105476C>G | CA404077421 | LDLR | c.828C>G (p.Phe276Leu) c.570C>G (p.Phe190Leu) c.824C>G c.314-1916C>G (n.314-1916C>G) c.447C>G (p.Phe149Leu) c.314-1089C>G (n.314-1089C>G) c.170C>G n.720C>G n.687C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11105476C>T | CA305296876 | LDLR | c.828C>T (p.Phe276=) c.570C>T (p.Phe190=) c.824C>T c.314-1916C>T (n.314-1916C>T) c.447C>T (p.Phe149=) c.314-1089C>T (n.314-1089C>T) c.170C>T n.720C>T n.687C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11105477C>A | CA404077435 | LDLR | c.829C>A (p.Gln277Lys) c.571C>A (p.Gln191Lys) c.825C>A c.314-1915C>A (n.314-1915C>A) c.448C>A (p.Gln150Lys) c.314-1088C>A (n.314-1088C>A) c.171C>A n.721C>A n.688C>A | |
| 19 | g.11105477C= | CA2322767499 | LDLR | c.829C= (p.Gln277=) c.571C= (p.Gln191=) c.825C= c.314-1915C= (n.314-1915C=) c.448C= (p.Gln150=) c.314-1088C= (n.314-1088C=) c.171C= n.721C= n.688C= | |
| 19 | g.11105477C>G | CA404077436 | LDLR | c.829C>G (p.Gln277Glu) c.571C>G (p.Gln191Glu) c.825C>G c.314-1915C>G (n.314-1915C>G) c.448C>G (p.Gln150Glu) c.314-1088C>G (n.314-1088C>G) c.171C>G n.721C>G n.688C>G | |
| 19 | g.11105477C>T | CA10584993 | LDLR | c.829C>T (p.Gln277Ter) c.571C>T (p.Gln191Ter) c.825C>T c.314-1915C>T (n.314-1915C>T) c.448C>T (p.Gln150Ter) c.314-1088C>T (n.314-1088C>T) c.171C>T n.721C>T n.688C>T | ClinVar dbSNP |
| 19 | g.11105477_11105483delinsGCCCAAT | CA2497030123 | LDLR | c.829_835delinsGCCCAAT (p.Gln277_Asp279delinsAlaGlnTyr) c.571_577delinsGCCCAAT (p.Gln191_Asp193delinsAlaGlnTyr) c.825_831delinsGCCCAAT c.314-1915_314-1909delinsGCCCAAT (n.314-1915_314-1909delinsGCCCAAT) c.448_454delinsGCCCAAT (p.Gln150_Asp152delinsAlaGlnTyr) c.314-1088_314-1082delinsGCCCAAT (n.314-1088_314-1082delinsGCCCAAT) c.171_177delinsGCCCAAT n.721_727delinsGCCCAAT n.688_694delinsGCCCAAT | |
| 19 | g.11105478A= | CA2322767500 | LDLR | c.830A= (p.Gln277=) c.572A= (p.Gln191=) c.826A= c.314-1914A= (n.314-1914A=) c.449A= (p.Gln150=) c.314-1087A= (n.314-1087A=) c.172A= n.722A= n.689A= |