| 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.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.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.11106161_11107857del | CA2573050584 | LDLR | c.953-404_1198+343del c.695-404_940+343del c.949-404_1194+343del c.314-1231_436+343del c.572-404_817+343del c.314-404_559+343del c.295-404_540+343del n.845-404_1090+343del n.812-404_1057+343del | |
| 19 | g.11106209_11108573del | CA10585092 | LDLR | c.953-356_1198+1059del c.695-356_940+1059del c.949-356_1194+1059del c.314-1183_436+1059del c.572-356_817+1059del c.314-356_559+1059del c.295-356_540+1059del n.845-356_1090+1059del n.812-356_1057+1059del | ClinVar |
| 19 | g.11106498_11114133del | CA404079331 | LDLR | c.953-67_1844+371del c.695-67_1586+371del c.695-67_1466+371del c.949-67_1840+371del c.314-894_1082+371del c.572-67_1463+371del c.314-67_1205+371del n.845-67_1736+371del n.812-67_1703+371del | ClinVar |
| 19 | g.11106564_11107515del | CA658824389 | LDLR | c.953-1_1198+1del c.695-1_940+1del c.949-1_1194+1del c.314-828_436+1del c.572-1_817+1del c.314-1_559+1del n.209_456del c.295-1_540+1del n.845-1_1090+1del n.812-1_1057+1del | ClinVar |
| 19 | g.11106684_11107392del | CA645509269 | LDLR | c.1072_1076del c.814_818del c.1068_1072del c.314-708_314del c.691_695del c.433_437del n.329_333del c.414_418del n.964_968del n.931_935del | ClinVar |
| 19 | g.11107389C= | CA2322768558 | LDLR | c.1076-3C= (n.1076-3C=) c.818-3C= (n.818-3C=) c.1072-3C= c.314-3C= (n.314-3C=) c.695-3C= (n.695-3C=) c.437-3C= (n.437-3C=) n.333-3C= c.418-3C= n.968-3C= n.935-3C= | |
| 19 | g.11107389C>G | CA10588894 | LDLR | c.1076-3C>G (n.1076-3C>G) c.818-3C>G (n.818-3C>G) c.1072-3C>G c.314-3C>G (n.314-3C>G) c.695-3C>G (n.695-3C>G) c.437-3C>G (n.437-3C>G) n.333-3C>G c.418-3C>G n.968-3C>G n.935-3C>G | ClinVar dbSNP |
| 19 | g.11107389C>T | CA631764305 | LDLR | c.1076-3C>T (n.1076-3C>T) c.818-3C>T (n.818-3C>T) c.1072-3C>T c.314-3C>T (n.314-3C>T) c.695-3C>T (n.695-3C>T) c.437-3C>T (n.437-3C>T) n.333-3C>T c.418-3C>T n.968-3C>T n.935-3C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11107390A= | CA2322768559 | LDLR | c.1076-2A= (n.1076-2A=) c.818-2A= (n.818-2A=) c.1072-2A= c.314-2A= (n.314-2A=) c.695-2A= (n.695-2A=) c.437-2A= (n.437-2A=) n.333-2A= c.418-2A= n.968-2A= n.935-2A= | |
| 19 | g.11107390A>C | CA404080458 | LDLR | c.1076-2A>C (n.1076-2A>C) c.818-2A>C (n.818-2A>C) c.1072-2A>C c.314-2A>C (n.314-2A>C) c.695-2A>C (n.695-2A>C) c.437-2A>C (n.437-2A>C) n.333-2A>C c.418-2A>C n.968-2A>C n.935-2A>C | |
| 19 | g.11107390A>G | CA10585149 | LDLR | c.1076-2A>G (n.1076-2A>G) c.818-2A>G (n.818-2A>G) c.1072-2A>G c.314-2A>G (n.314-2A>G) c.695-2A>G (n.695-2A>G) c.437-2A>G (n.437-2A>G) n.333-2A>G c.418-2A>G n.968-2A>G n.935-2A>G | ClinVar dbSNP |
| 19 | g.11107390A>T | CA404080462 | LDLR | c.1076-2A>T (n.1076-2A>T) c.818-2A>T (n.818-2A>T) c.1072-2A>T c.314-2A>T (n.314-2A>T) c.695-2A>T (n.695-2A>T) c.437-2A>T (n.437-2A>T) n.333-2A>T c.418-2A>T n.968-2A>T n.935-2A>T | |
| 19 | g.11107391G>A | CA10585150 | LDLR | c.1076-1G>A (n.1076-1G>A) c.818-1G>A (n.818-1G>A) c.1072-1G>A c.314-1G>A (n.314-1G>A) c.695-1G>A (n.695-1G>A) c.437-1G>A (n.437-1G>A) n.333-1G>A c.418-1G>A n.968-1G>A n.935-1G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11107391G>C | CA404080465 | LDLR | c.1076-1G>C (n.1076-1G>C) c.818-1G>C (n.818-1G>C) c.1072-1G>C c.314-1G>C (n.314-1G>C) c.695-1G>C (n.695-1G>C) c.437-1G>C (n.437-1G>C) n.333-1G>C c.418-1G>C n.968-1G>C n.935-1G>C | |
| 19 | g.11107391G= | CA2322768560 | LDLR | c.1076-1G= (n.1076-1G=) c.818-1G= (n.818-1G=) c.1072-1G= c.314-1G= (n.314-1G=) c.695-1G= (n.695-1G=) c.437-1G= (n.437-1G=) n.333-1G= c.418-1G= n.968-1G= n.935-1G= | |
| 19 | g.11107391G>T | CA404080468 | LDLR | c.1076-1G>T (n.1076-1G>T) c.818-1G>T (n.818-1G>T) c.1072-1G>T c.314-1G>T (n.314-1G>T) c.695-1G>T (n.695-1G>T) c.437-1G>T (n.437-1G>T) n.333-1G>T c.418-1G>T n.968-1G>T n.935-1G>T | |
| 19 | g.11107391_11107399delinsGTGACACTC | CA2322768561 | LDLR | c.1076-1_1083delinsGTGACACTC c.818-1_825delinsGTGACACTC c.1072-1_1079delinsGTGACACTC c.314-1_321delinsGTGACACTC c.695-1_702delinsGTGACACTC c.437-1_444delinsGTGACACTC n.333-1_340delinsGTGACACTC c.418-1_425delinsGTGACACTC n.968-1_975delinsGTGACACTC n.935-1_942delinsGTGACACTC | |
| 19 | g.11107392T>A | CA404080473 | LDLR | c.1076T>A (p.Val359Glu) c.818T>A (p.Val273Glu) c.1072T>A c.314T>A (p.Leu105Gln) c.695T>A (p.Val232Glu) c.437T>A (p.Val146Glu) n.333T>A c.418T>A n.968T>A n.935T>A | |
| 19 | g.11107392T>C | CA404080470 | LDLR | c.1076T>C (p.Val359Ala) c.818T>C (p.Val273Ala) c.1072T>C c.314T>C (p.Leu105Pro) c.695T>C (p.Val232Ala) c.437T>C (p.Val146Ala) n.333T>C c.418T>C n.968T>C n.935T>C | |
| 19 | g.11107392T>G | CA305298508 | LDLR | c.1076T>G (p.Val359Gly) c.818T>G (p.Val273Gly) c.1072T>G c.314T>G (p.Leu105Arg) c.695T>G (p.Val232Gly) c.437T>G (p.Val146Gly) n.333T>G c.418T>G n.968T>G n.935T>G | dbSNP |
| 19 | g.11107392T= | CA2322768562 | LDLR | c.1076T= (p.Val359=) c.818T= (p.Val273=) c.1072T= c.314T= (p.Leu105=) c.695T= (p.Val232=) c.437T= (p.Val146=) n.333T= c.418T= n.968T= n.935T= | |
| 19 | g.11107394_11107401del | CA10585152 | LDLR | c.1078_1085del (p.Thr360ArgfsTer24) c.820_827del (p.Thr274ArgfsTer24) c.1074_1081del c.316_323del (p.Thr106ArgfsTer24) c.697_704del (p.Thr233ArgfsTer24) c.439_446del (p.Thr147ArgfsTer24) n.335_342del c.420_427del n.970_977del n.937_944del | ClinVar dbSNP |
| 19 | g.11107393G>A | CA505485046 | LDLR | c.1077G>A (p.Val359=) c.819G>A (p.Val273=) c.1073G>A c.315G>A (p.Leu105=) c.696G>A (p.Val232=) c.438G>A (p.Val146=) n.334G>A c.419G>A n.969G>A n.936G>A | ClinVar dbSNP |
| 19 | g.11107393G>C | CA505485047 | LDLR | c.1077G>C (p.Val359=) c.819G>C (p.Val273=) c.1073G>C c.315G>C (p.Leu105=) c.696G>C (p.Val232=) c.438G>C (p.Val146=) n.334G>C c.419G>C n.969G>C n.936G>C | |
| 19 | g.11107393G= | CA2322768564 | LDLR | c.1077G= (p.Val359=) c.819G= (p.Val273=) c.1073G= c.315G= (p.Leu105=) c.696G= (p.Val232=) c.438G= (p.Val146=) n.334G= c.419G= n.969G= n.936G= | |
| 19 | g.11107393G>T | CA505485048 | LDLR | c.1077G>T (p.Val359=) c.819G>T (p.Val273=) c.1073G>T c.315G>T (p.Leu105=) c.696G>T (p.Val232=) c.438G>T (p.Val146=) n.334G>T c.419G>T n.969G>T n.936G>T | |
| 19 | g.11107393_11107394delinsGA | CA2322768563 | LDLR | c.1077_1078delinsGA (p.Val359=) c.819_820delinsGA (p.Val273=) c.1073_1074delinsGA c.315_316delinsGA (p.Leu105=) c.696_697delinsGA (p.Val232=) c.438_439delinsGA (p.Val146=) n.334_335delinsGA c.419_420delinsGA n.969_970delinsGA n.936_937delinsGA | |
| 19 | g.11107394del | CA029718 | LDLR | c.1078del (p.Thr360HisfsTer?) c.820del (p.Thr274HisfsTer?) c.1074del c.316del (p.Thr106HisfsTer?) c.697del (p.Thr233HisfsTer?) c.439del (p.Thr147HisfsTer?) n.335del c.420del n.970del n.937del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11107394A= | CA2322768565 | LDLR | c.1078A= (p.Thr360=) c.820A= (p.Thr274=) c.1074A= c.316A= (p.Thr106=) c.697A= (p.Thr233=) c.439A= (p.Thr147=) n.335A= c.420A= n.970A= n.937A= | |
| 19 | g.11107394A>C | CA404080476 | LDLR | c.1078A>C (p.Thr360Pro) c.820A>C (p.Thr274Pro) c.1074A>C c.316A>C (p.Thr106Pro) c.697A>C (p.Thr233Pro) c.439A>C (p.Thr147Pro) n.335A>C c.420A>C n.970A>C n.937A>C | |
| 19 | g.11107394A>G | CA404080478 | LDLR | c.1078A>G (p.Thr360Ala) c.820A>G (p.Thr274Ala) c.1074A>G c.316A>G (p.Thr106Ala) c.697A>G (p.Thr233Ala) c.439A>G (p.Thr147Ala) n.335A>G c.420A>G n.970A>G n.937A>G | |
| 19 | g.11107394A>T | CA10585151 | LDLR | c.1078A>T (p.Thr360Ser) c.820A>T (p.Thr274Ser) c.1074A>T c.316A>T (p.Thr106Ser) c.697A>T (p.Thr233Ser) c.439A>T (p.Thr147Ser) n.335A>T c.420A>T n.970A>T n.937A>T | ClinVar dbSNP |
| 19 | g.11107395del | CA404080487 | LDLR | c.1079del (p.Thr360AsnfsTer?) c.821del (p.Thr274AsnfsTer?) c.1075del c.317del (p.Thr106AsnfsTer?) c.698del (p.Thr233AsnfsTer?) c.440del (p.Thr147AsnfsTer?) n.336del c.421del n.971del n.938del | |
| 19 | g.11107395C>A | CA029736 | LDLR | c.1079C>A (p.Thr360Lys) c.821C>A (p.Thr274Lys) c.1075C>A c.317C>A (p.Thr106Lys) c.698C>A (p.Thr233Lys) c.440C>A (p.Thr147Lys) n.336C>A c.421C>A n.971C>A n.938C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11107395C= | CA2322768566 | LDLR | c.1079C= (p.Thr360=) c.821C= (p.Thr274=) c.1075C= c.317C= (p.Thr106=) c.698C= (p.Thr233=) c.440C= (p.Thr147=) n.336C= c.421C= n.971C= n.938C= | |
| 19 | g.11107395C>G | CA404080492 | LDLR | c.1079C>G (p.Thr360Arg) c.821C>G (p.Thr274Arg) c.1075C>G c.317C>G (p.Thr106Arg) c.698C>G (p.Thr233Arg) c.440C>G (p.Thr147Arg) n.336C>G c.421C>G n.971C>G n.938C>G | |
| 19 | g.11107395C>T | CA404080490 | LDLR | c.1079C>T (p.Thr360Ile) c.821C>T (p.Thr274Ile) c.1075C>T c.317C>T (p.Thr106Ile) c.698C>T (p.Thr233Ile) c.440C>T (p.Thr147Ile) n.336C>T c.421C>T n.971C>T n.938C>T | |
| 19 | g.11107396A>C | CA505485052 | LDLR | c.1080A>C (p.Thr360=) c.822A>C (p.Thr274=) c.1076A>C c.318A>C (p.Thr106=) c.699A>C (p.Thr233=) c.441A>C (p.Thr147=) n.337A>C c.422A>C n.972A>C n.939A>C | |
| 19 | g.11107396A>G | CA505485053 | LDLR | c.1080A>G (p.Thr360=) c.822A>G (p.Thr274=) c.1076A>G c.318A>G (p.Thr106=) c.699A>G (p.Thr233=) c.441A>G (p.Thr147=) n.337A>G c.422A>G n.972A>G n.939A>G |