| 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.11105492_11105530del | CA2573050576 | LDLR | c.844_882del (p.Pro282_Glu294del) c.586_624del (p.Pro196_Glu208del) c.840_878del c.314-1900_314-1862del (n.314-1900_314-1862del) c.463_501del (p.Pro155_Glu167del) c.314-1073_314-1035del (n.314-1073_314-1035del) c.186_224del n.736_774del n.703_741del | |
| 19 | g.11105502C>A | CA404077634 | LDLR | c.854C>A (p.Ala285Asp) c.596C>A (p.Ala199Asp) c.850C>A c.314-1890C>A (n.314-1890C>A) c.473C>A (p.Ala158Asp) c.314-1063C>A (n.314-1063C>A) c.196C>A n.746C>A n.713C>A | |
| 19 | g.11105502C>G | CA404077638 | LDLR | c.854C>G (p.Ala285Gly) c.596C>G (p.Ala199Gly) c.850C>G c.314-1890C>G (n.314-1890C>G) c.473C>G (p.Ala158Gly) c.314-1063C>G (n.314-1063C>G) c.196C>G n.746C>G n.713C>G | |
| 19 | g.11105502C>T | CA404077641 | LDLR | c.854C>T (p.Ala285Val) c.596C>T (p.Ala199Val) c.850C>T c.314-1890C>T (n.314-1890C>T) c.473C>T (p.Ala158Val) c.314-1063C>T (n.314-1063C>T) c.196C>T n.746C>T n.713C>T | |
| 19 | g.11105503C>A | CA505743442 | LDLR | c.855C>A (p.Ala285=) c.597C>A (p.Ala199=) c.851C>A c.314-1889C>A (n.314-1889C>A) c.474C>A (p.Ala158=) c.314-1062C>A (n.314-1062C>A) c.197C>A n.747C>A n.714C>A | |
| 19 | g.11105503C= | CA2322767524 | LDLR | c.855C= (p.Ala285=) c.597C= (p.Ala199=) c.851C= c.314-1889C= (n.314-1889C=) c.474C= (p.Ala158=) c.314-1062C= (n.314-1062C=) c.197C= n.747C= n.714C= | |
| 19 | g.11105503C>G | CA505743443 | LDLR | c.855C>G (p.Ala285=) c.597C>G (p.Ala199=) c.851C>G c.314-1889C>G (n.314-1889C>G) c.474C>G (p.Ala158=) c.314-1062C>G (n.314-1062C>G) c.197C>G n.747C>G n.714C>G | |
| 19 | g.11105503C>T | CA044100 | LDLR | c.855C>T (p.Ala285=) c.597C>T (p.Ala199=) c.851C>T c.314-1889C>T (n.314-1889C>T) c.474C>T (p.Ala158=) c.314-1062C>T (n.314-1062C>T) c.197C>T n.747C>T n.714C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11105504T>A | CA10585003 | LDLR | c.856T>A (p.Phe286Ile) c.598T>A (p.Phe200Ile) c.852T>A c.314-1888T>A (n.314-1888T>A) c.475T>A (p.Phe159Ile) c.314-1061T>A (n.314-1061T>A) c.198T>A n.748T>A n.715T>A | ClinVar dbSNP |
| 19 | g.11105504T>C | CA404077651 | LDLR | c.856T>C (p.Phe286Leu) c.598T>C (p.Phe200Leu) c.852T>C c.314-1888T>C (n.314-1888T>C) c.475T>C (p.Phe159Leu) c.314-1061T>C (n.314-1061T>C) c.198T>C n.748T>C n.715T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11105504T>G | CA404077655 | LDLR | c.856T>G (p.Phe286Val) c.598T>G (p.Phe200Val) c.852T>G c.314-1888T>G (n.314-1888T>G) c.475T>G (p.Phe159Val) c.314-1061T>G (n.314-1061T>G) c.198T>G n.748T>G n.715T>G | |
| 19 | g.11105504T= | CA2322767525 | LDLR | c.856T= (p.Phe286=) c.598T= (p.Phe200=) c.852T= c.314-1888T= (n.314-1888T=) c.475T= (p.Phe159=) c.314-1061T= (n.314-1061T=) c.198T= n.748T= n.715T= | |
| 19 | g.11105505T>A | CA404077660 | LDLR | c.857T>A (p.Phe286Tyr) c.599T>A (p.Phe200Tyr) c.853T>A c.314-1887T>A (n.314-1887T>A) c.476T>A (p.Phe159Tyr) c.314-1060T>A (n.314-1060T>A) c.199T>A n.749T>A n.716T>A | |
| 19 | g.11105505T>C | CA404077663 | LDLR | c.857T>C (p.Phe286Ser) c.599T>C (p.Phe200Ser) c.853T>C c.314-1887T>C (n.314-1887T>C) c.476T>C (p.Phe159Ser) c.314-1060T>C (n.314-1060T>C) c.199T>C n.749T>C n.716T>C | |
| 19 | g.11105505T>G | CA10585004 | LDLR | c.857T>G (p.Phe286Cys) c.599T>G (p.Phe200Cys) c.853T>G c.314-1887T>G (n.314-1887T>G) c.476T>G (p.Phe159Cys) c.314-1060T>G (n.314-1060T>G) c.199T>G n.749T>G n.716T>G | ClinVar dbSNP |
| 19 | g.11105505T= | CA2322767526 | LDLR | c.857T= (p.Phe286=) c.599T= (p.Phe200=) c.853T= c.314-1887T= (n.314-1887T=) c.476T= (p.Phe159=) c.314-1060T= (n.314-1060T=) c.199T= n.749T= n.716T= | |
| 19 | g.11105505_11105506delinsTC | CA2322767527 | LDLR | c.857_858delinsTC (p.Phe286=) c.599_600delinsTC (p.Phe200=) c.853_854delinsTC c.314-1887_314-1886delinsTC (n.314-1887_314-1886delinsTC) c.476_477delinsTC (p.Phe159=) c.314-1060_314-1059delinsTC (n.314-1060_314-1059delinsTC) c.199_200delinsTC n.749_750delinsTC n.716_717delinsTC | |
| 19 | g.11105506del | CA10585006 | LDLR | c.858del (p.Phe286LeufsTer6) c.600del (p.Phe200LeufsTer6) c.854del c.314-1886del (n.314-1886del) c.477del (p.Phe159LeufsTer6) c.314-1059del (n.314-1059del) c.200del n.750del n.717del | ClinVar dbSNP |
| 19 | g.11105506C>A | CA10585005 | LDLR | c.858C>A (p.Phe286Leu) c.600C>A (p.Phe200Leu) c.854C>A c.314-1886C>A (n.314-1886C>A) c.477C>A (p.Phe159Leu) c.314-1059C>A (n.314-1059C>A) c.200C>A n.750C>A n.717C>A | ClinVar dbSNP |
| 19 | g.11105506C= | CA2322767528 | LDLR | c.858C= (p.Phe286=) c.600C= (p.Phe200=) c.854C= c.314-1886C= (n.314-1886C=) c.477C= (p.Phe159=) c.314-1059C= (n.314-1059C=) c.200C= n.750C= n.717C= | |
| 19 | g.11105506C>G | CA404077681 | LDLR | c.858C>G (p.Phe286Leu) c.600C>G (p.Phe200Leu) c.854C>G c.314-1886C>G (n.314-1886C>G) c.477C>G (p.Phe159Leu) c.314-1059C>G (n.314-1059C>G) c.200C>G n.750C>G n.717C>G | gnomAD v4 |
| 19 | g.11105506C>T | CA505743447 | LDLR | c.858C>T (p.Phe286=) c.600C>T (p.Phe200=) c.854C>T c.314-1886C>T (n.314-1886C>T) c.477C>T (p.Phe159=) c.314-1059C>T (n.314-1059C>T) c.200C>T n.750C>T n.717C>T | gnomAD v4 |
| 19 | g.11105506dup | CA505743448 | LDLR | c.858dup (p.Glu287ArgfsTer17) c.600dup (p.Glu201ArgfsTer17) c.854dup c.314-1886dup (n.314-1886dup) c.477dup (p.Glu160ArgfsTer17) c.314-1059dup (n.314-1059dup) c.200dup n.750dup n.717dup | COSMIC |
| 19 | g.11105507G>A | CA10585007 | LDLR | c.859G>A (p.Glu287Lys) c.601G>A (p.Glu201Lys) c.855G>A c.314-1885G>A (n.314-1885G>A) c.478G>A (p.Glu160Lys) c.314-1058G>A (n.314-1058G>A) c.201G>A n.751G>A n.718G>A | ClinVar dbSNP COSMIC |
| 19 | g.11105507G>C | CA404077691 | LDLR | c.859G>C (p.Glu287Gln) c.601G>C (p.Glu201Gln) c.855G>C c.314-1885G>C (n.314-1885G>C) c.478G>C (p.Glu160Gln) c.314-1058G>C (n.314-1058G>C) c.201G>C n.751G>C n.718G>C | ClinVar |
| 19 | g.11105507G= | CA2322767529 | LDLR | c.859G= (p.Glu287=) c.601G= (p.Glu201=) c.855G= c.314-1885G= (n.314-1885G=) c.478G= (p.Glu160=) c.314-1058G= (n.314-1058G=) c.201G= n.751G= n.718G= | |
| 19 | g.11105507G>T | CA404077696 | LDLR | c.859G>T (p.Glu287Ter) c.601G>T (p.Glu201Ter) c.855G>T c.314-1885G>T (n.314-1885G>T) c.478G>T (p.Glu160Ter) c.314-1058G>T (n.314-1058G>T) c.201G>T n.751G>T n.718G>T | |
| 19 | g.11105508A= | CA2322767530 | LDLR | c.860A= (p.Glu287=) c.602A= (p.Glu201=) c.856A= c.314-1884A= (n.314-1884A=) c.479A= (p.Glu160=) c.314-1057A= (n.314-1057A=) c.202A= n.752A= n.719A= | |
| 19 | g.11105508A>C | CA404077700 | LDLR | c.860A>C (p.Glu287Ala) c.602A>C (p.Glu201Ala) c.856A>C c.314-1884A>C (n.314-1884A>C) c.479A>C (p.Glu160Ala) c.314-1057A>C (n.314-1057A>C) c.202A>C n.752A>C n.719A>C | ClinVar dbSNP |
| 19 | g.11105508A>G | CA044113 | LDLR | c.860A>G (p.Glu287Gly) c.602A>G (p.Glu201Gly) c.856A>G c.314-1884A>G (n.314-1884A>G) c.479A>G (p.Glu160Gly) c.314-1057A>G (n.314-1057A>G) c.202A>G n.752A>G n.719A>G | dbSNP ExAC gnomAD v2 |
| 19 | g.11105508A>T | CA404077707 | LDLR | c.860A>T (p.Glu287Val) c.602A>T (p.Glu201Val) c.856A>T c.314-1884A>T (n.314-1884A>T) c.479A>T (p.Glu160Val) c.314-1057A>T (n.314-1057A>T) c.202A>T n.752A>T n.719A>T | |
| 19 | g.11105509G>A | CA505743450 | LDLR | c.861G>A (p.Glu287=) c.603G>A (p.Glu201=) c.857G>A c.314-1883G>A (n.314-1883G>A) c.480G>A (p.Glu160=) c.314-1056G>A (n.314-1056G>A) c.203G>A n.753G>A n.720G>A | ClinVar gnomAD v4 |
| 19 | g.11105509G>C | CA404077710 | LDLR | c.861G>C (p.Glu287Asp) c.603G>C (p.Glu201Asp) c.857G>C c.314-1883G>C (n.314-1883G>C) c.480G>C (p.Glu160Asp) c.314-1056G>C (n.314-1056G>C) c.203G>C n.753G>C n.720G>C | |
| 19 | g.11105509G>T | CA404077724 | LDLR | c.861G>T (p.Glu287Asp) c.603G>T (p.Glu201Asp) c.857G>T c.314-1883G>T (n.314-1883G>T) c.480G>T (p.Glu160Asp) c.314-1056G>T (n.314-1056G>T) c.203G>T n.753G>T n.720G>T | |
| 19 | g.11105510T>A | CA404077732 | LDLR | c.862T>A (p.Phe288Ile) c.604T>A (p.Phe202Ile) c.858T>A c.314-1882T>A (n.314-1882T>A) c.481T>A (p.Phe161Ile) c.314-1055T>A (n.314-1055T>A) c.204T>A n.754T>A n.721T>A | |
| 19 | g.11105510T>C | CA404077734 | LDLR | c.862T>C (p.Phe288Leu) c.604T>C (p.Phe202Leu) c.858T>C c.314-1882T>C (n.314-1882T>C) c.481T>C (p.Phe161Leu) c.314-1055T>C (n.314-1055T>C) c.204T>C n.754T>C n.721T>C |