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.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_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.11105352_11110660delCA915941069LDLRc.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
19g.11106161_11107857delCA2573050584LDLRc.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
19g.11106209_11108573delCA10585092LDLRc.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
19g.11106438_11107211delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCA2322768086LDLRc.953-127_1076-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG
c.695-127_818-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG
c.949-127_1072-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG
c.314-954_314-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG (n.314-954_314-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG)
c.572-127_695-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG
c.314-127_437-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG
n.83_333-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG
c.295-127_418-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG
n.845-127_968-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG
n.812-127_935-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG
19g.11106469_11107241delCA250468LDLRc.953-96_1076-151del
c.695-96_818-151del
c.949-96_1072-151del
c.314-923_314-151del (n.314-923_314-151del)
c.572-96_695-151del
c.314-96_437-151del
n.114_333-151del
c.295-96_418-151del
n.845-96_968-151del
n.812-96_935-151del
 dbSNP
19g.11106498_11114133delCA404079331LDLRc.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
19g.11106564_11107515delCA658824389LDLRc.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
19g.11106574_11106660delCA2695228112LDLRc.962_1048del (p.Thr321_Asp349del)
c.704_790del (p.Thr235_Asp263del)
c.958_1044del
c.314-818_314-732del (n.314-818_314-732del)
c.581_667del (p.Thr194_Asp222del)
c.323_409del (p.Thr108_Asp136del)
n.219_305del
c.304_390del
n.854_940del
n.821_907del
19g.11106574_11106661delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATCA2322768146LDLRc.962_1049delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT (p.Thr321=)
c.704_791delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT (p.Thr235=)
c.958_1045delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT
c.314-818_314-731delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT (n.314-818_314-731delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT)
c.581_668delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT (p.Thr194=)
c.323_410delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT (p.Thr108=)
n.219_306delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT
c.304_391delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT
n.854_941delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT
n.821_908delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT
19g.11106575_11106661delCA10585098LDLRc.963_1049del (p.Cys322_Met350del)
c.705_791del (p.Cys236_Met264del)
c.959_1045del
c.314-817_314-731del (n.314-817_314-731del)
c.582_668del (p.Cys195_Met223del)
c.324_410del (p.Cys109_Met137del)
n.220_306del
c.305_391del
n.855_941del
n.822_908del
 ClinVar dbSNP
19g.11106626_11106632delCA2573050586LDLRc.1014_1020del (p.Arg339ValfsTer10)
c.756_762del (p.Arg253ValfsTer10)
c.1010_1016del
c.314-766_314-760del (n.314-766_314-760del)
c.633_639del (p.Arg212ValfsTer10)
c.375_381del (p.Arg126ValfsTer10)
n.271_277del
c.356_362del
n.906_912del
n.873_879del
19g.11106627C>ACA505484938LDLRc.1015C>A (p.Arg339=)
c.757C>A (p.Arg253=)
c.1011C>A
c.314-765C>A (n.314-765C>A)
c.634C>A (p.Arg212=)
c.376C>A (p.Arg126=)
n.272C>A
c.357C>A
n.907C>A
n.874C>A
19g.11106627C=CA2322768176LDLRc.1015C= (p.Arg339=)
c.757C= (p.Arg253=)
c.1011C=
c.314-765C= (n.314-765C=)
c.634C= (p.Arg212=)
c.376C= (p.Arg126=)
n.272C=
c.357C=
n.907C=
n.874C=
19g.11106627C>GCA404079806LDLRc.1015C>G (p.Arg339Gly)
c.757C>G (p.Arg253Gly)
c.1011C>G
c.314-765C>G (n.314-765C>G)
c.634C>G (p.Arg212Gly)
c.376C>G (p.Arg126Gly)
n.272C>G
c.357C>G
n.907C>G
n.874C>G
19g.11106627C>TCA023757LDLRc.1015C>T (p.Arg339Trp)
c.757C>T (p.Arg253Trp)
c.1011C>T
c.314-765C>T (n.314-765C>T)
c.634C>T (p.Arg212Trp)
c.376C>T (p.Arg126Trp)
n.272C>T
c.357C>T
n.907C>T
n.874C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106628G>ACA029258LDLRc.1016G>A (p.Arg339Gln)
c.758G>A (p.Arg253Gln)
c.1012G>A
c.314-764G>A (n.314-764G>A)
c.635G>A (p.Arg212Gln)
c.377G>A (p.Arg126Gln)
n.273G>A
c.358G>A
n.908G>A
n.875G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106628G>CCA10585115LDLRc.1016G>C (p.Arg339Pro)
c.758G>C (p.Arg253Pro)
c.1012G>C
c.314-764G>C (n.314-764G>C)
c.635G>C (p.Arg212Pro)
c.377G>C (p.Arg126Pro)
n.273G>C
c.358G>C
n.908G>C
n.875G>C
 ClinVar dbSNP
19g.11106628G=CA2322768177LDLRc.1016G= (p.Arg339=)
c.758G= (p.Arg253=)
c.1012G=
c.314-764G= (n.314-764G=)
c.635G= (p.Arg212=)
c.377G= (p.Arg126=)
n.273G=
c.358G=
n.908G=
n.875G=
19g.11106628G>TCA404079816LDLRc.1016G>T (p.Arg339Leu)
c.758G>T (p.Arg253Leu)
c.1012G>T
c.314-764G>T (n.314-764G>T)
c.635G>T (p.Arg212Leu)
c.377G>T (p.Arg126Leu)
n.273G>T
c.358G>T
n.908G>T
n.875G>T
19g.11106629G>ACA505484940LDLRc.1017G>A (p.Arg339=)
c.759G>A (p.Arg253=)
c.1013G>A
c.314-763G>A (n.314-763G>A)
c.636G>A (p.Arg212=)
c.378G>A (p.Arg126=)
n.274G>A
c.359G>A
n.909G>A
n.876G>A
 ClinVar dbSNP COSMIC
19g.11106629G>CCA505484941LDLRc.1017G>C (p.Arg339=)
c.759G>C (p.Arg253=)
c.1013G>C
c.314-763G>C (n.314-763G>C)
c.636G>C (p.Arg212=)
c.378G>C (p.Arg126=)
n.274G>C
c.359G>C
n.909G>C
n.876G>C
19g.11106629G=CA2322768178LDLRc.1017G= (p.Arg339=)
c.759G= (p.Arg253=)
c.1013G=
c.314-763G= (n.314-763G=)
c.636G= (p.Arg212=)
c.378G= (p.Arg126=)
n.274G=
c.359G=
n.909G=
n.876G=
19g.11106629G>TCA505484942LDLRc.1017G>T (p.Arg339=)
c.759G>T (p.Arg253=)
c.1013G>T
c.314-763G>T (n.314-763G>T)
c.636G>T (p.Arg212=)
c.378G>T (p.Arg126=)
n.274G>T
c.359G>T
n.909G>T
n.876G>T
 ClinVar
19g.11106630C>ACA404079829LDLRc.1018C>A (p.Gln340Lys)
c.760C>A (p.Gln254Lys)
c.1014C>A
c.314-762C>A (n.314-762C>A)
c.637C>A (p.Gln213Lys)
c.379C>A (p.Gln127Lys)
n.275C>A
c.360C>A
n.910C>A
n.877C>A
19g.11106630C=CA2322768179LDLRc.1018C= (p.Gln340=)
c.760C= (p.Gln254=)
c.1014C=
c.314-762C= (n.314-762C=)
c.637C= (p.Gln213=)
c.379C= (p.Gln127=)
n.275C=
c.360C=
n.910C=
n.877C=
19g.11106630C>GCA029271LDLRc.1018C>G (p.Gln340Glu)
c.760C>G (p.Gln254Glu)
c.1014C>G
c.314-762C>G (n.314-762C>G)
c.637C>G (p.Gln213Glu)
c.379C>G (p.Gln127Glu)
n.275C>G
c.360C>G
n.910C>G
n.877C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106630C>TCA10585116LDLRc.1018C>T (p.Gln340Ter)
c.760C>T (p.Gln254Ter)
c.1014C>T
c.314-762C>T (n.314-762C>T)
c.637C>T (p.Gln213Ter)
c.379C>T (p.Gln127Ter)
n.275C>T
c.360C>T
n.910C>T
n.877C>T
 ClinVar dbSNP
19g.11106631A=CA2322768180LDLRc.1019A= (p.Gln340=)
c.761A= (p.Gln254=)
c.1015A=
c.314-761A= (n.314-761A=)
c.638A= (p.Gln213=)
c.380A= (p.Gln127=)
n.276A=
c.361A=
n.911A=
n.878A=
19g.11106631A>CCA10585117LDLRc.1019A>C (p.Gln340Pro)
c.761A>C (p.Gln254Pro)
c.1015A>C
c.314-761A>C (n.314-761A>C)
c.638A>C (p.Gln213Pro)
c.380A>C (p.Gln127Pro)
n.276A>C
c.361A>C
n.911A>C
n.878A>C
 ClinVar dbSNP gnomAD v4
19g.11106631A>GCA404079843LDLRc.1019A>G (p.Gln340Arg)
c.761A>G (p.Gln254Arg)
c.1015A>G
c.314-761A>G (n.314-761A>G)
c.638A>G (p.Gln213Arg)
c.380A>G (p.Gln127Arg)
n.276A>G
c.361A>G
n.911A>G
n.878A>G
 dbSNP gnomAD v3 gnomAD v4
19g.11106631A>TCA404079840LDLRc.1019A>T (p.Gln340Leu)
c.761A>T (p.Gln254Leu)
c.1015A>T
c.314-761A>T (n.314-761A>T)
c.638A>T (p.Gln213Leu)
c.380A>T (p.Gln127Leu)
n.276A>T
c.361A>T
n.911A>T
n.878A>T
19g.11106632G>ACA029289LDLRc.1020G>A (p.Gln340=)
c.762G>A (p.Gln254=)
c.1016G>A
c.314-760G>A (n.314-760G>A)
c.639G>A (p.Gln213=)
c.381G>A (p.Gln127=)
n.277G>A
c.362G>A
n.912G>A
n.879G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106632G>CCA404079854LDLRc.1020G>C (p.Gln340His)
c.762G>C (p.Gln254His)
c.1016G>C
c.314-760G>C (n.314-760G>C)
c.639G>C (p.Gln213His)
c.381G>C (p.Gln127His)
n.277G>C
c.362G>C
n.912G>C
n.879G>C
19g.11106632G=CA2322768181LDLRc.1020G= (p.Gln340=)
c.762G= (p.Gln254=)
c.1016G=
c.314-760G= (n.314-760G=)
c.639G= (p.Gln213=)
c.381G= (p.Gln127=)
n.277G=
c.362G=
n.912G=
n.879G=
19g.11106632G>TCA10585118LDLRc.1020G>T (p.Gln340His)
c.762G>T (p.Gln254His)
c.1016G>T
c.314-760G>T (n.314-760G>T)
c.639G>T (p.Gln213His)
c.381G>T (p.Gln127His)
n.277G>T
c.362G>T
n.912G>T
n.879G>T
 ClinVar dbSNP
19g.11106632_11106633delinsACCA10585119LDLRc.1020_1021delinsAC (p.Cys341Arg)
c.762_763delinsAC (p.Cys255Arg)
c.1016_1017delinsAC
c.314-760_314-759delinsAC (n.314-760_314-759delinsAC)
c.639_640delinsAC (p.Cys214Arg)
c.381_382delinsAC (p.Cys128Arg)
n.277_278delinsAC
c.362_363delinsAC
n.912_913delinsAC
n.879_880delinsAC
 ClinVar
19g.11106632_11106633delinsTGCA2573050587LDLRc.1020_1021delinsTG (p.Gln340_Cys341delinsHisGly)
c.762_763delinsTG (p.Gln254_Cys255delinsHisGly)
c.1016_1017delinsTG
c.314-760_314-759delinsTG (n.314-760_314-759delinsTG)
c.639_640delinsTG (p.Gln213_Cys214delinsHisGly)
c.381_382delinsTG (p.Gln127_Cys128delinsHisGly)
n.277_278delinsTG
c.362_363delinsTG
n.912_913delinsTG
n.879_880delinsTG
19g.11106633T>ACA10585120LDLRc.1021T>A (p.Cys341Ser)
c.763T>A (p.Cys255Ser)
c.1017T>A
c.314-759T>A (n.314-759T>A)
c.640T>A (p.Cys214Ser)
c.382T>A (p.Cys128Ser)
n.278T>A
c.363T>A
n.913T>A
n.880T>A
 ClinVar dbSNP
19g.11106633T>CCA10585121LDLRc.1021T>C (p.Cys341Arg)
c.763T>C (p.Cys255Arg)
c.1017T>C
c.314-759T>C (n.314-759T>C)
c.640T>C (p.Cys214Arg)
c.382T>C (p.Cys128Arg)
n.278T>C
c.363T>C
n.913T>C
n.880T>C
 ClinVar dbSNP gnomAD v2
19g.11106633T>GCA10585122LDLRc.1021T>G (p.Cys341Gly)
c.763T>G (p.Cys255Gly)
c.1017T>G
c.314-759T>G (n.314-759T>G)
c.640T>G (p.Cys214Gly)
c.382T>G (p.Cys128Gly)
n.278T>G
c.363T>G
n.913T>G
n.880T>G
 ClinVar dbSNP
19g.11106633T=CA2322768182LDLRc.1021T= (p.Cys341=)
c.763T= (p.Cys255=)
c.1017T=
c.314-759T= (n.314-759T=)
c.640T= (p.Cys214=)
c.382T= (p.Cys128=)
n.278T=
c.363T=
n.913T=
n.880T=
19g.11106634G>ACA10585123LDLRc.1022G>A (p.Cys341Tyr)
c.764G>A (p.Cys255Tyr)
c.1018G>A
c.314-758G>A (n.314-758G>A)
c.641G>A (p.Cys214Tyr)
c.383G>A (p.Cys128Tyr)
n.279G>A
c.364G>A
n.914G>A
n.881G>A
 ClinVar dbSNP
19g.11106634G>CCA404079870LDLRc.1022G>C (p.Cys341Ser)
c.764G>C (p.Cys255Ser)
c.1018G>C
c.314-758G>C (n.314-758G>C)
c.641G>C (p.Cys214Ser)
c.383G>C (p.Cys128Ser)
n.279G>C
c.364G>C
n.914G>C
n.881G>C
19g.11106634G=CA2322768183LDLRc.1022G= (p.Cys341=)
c.764G= (p.Cys255=)
c.1018G=
c.314-758G= (n.314-758G=)
c.641G= (p.Cys214=)
c.383G= (p.Cys128=)
n.279G=
c.364G=
n.914G=
n.881G=
19g.11106634G>TCA404079874LDLRc.1022G>T (p.Cys341Phe)
c.764G>T (p.Cys255Phe)
c.1018G>T
c.314-758G>T (n.314-758G>T)
c.641G>T (p.Cys214Phe)
c.383G>T (p.Cys128Phe)
n.279G>T
c.364G>T
n.914G>T
n.881G>T
 ClinVar dbSNP
19g.11106635T>ACA404079880LDLRc.1023T>A (p.Cys341Ter)
c.765T>A (p.Cys255Ter)
c.1019T>A
c.314-757T>A (n.314-757T>A)
c.642T>A (p.Cys214Ter)
c.384T>A (p.Cys128Ter)
n.280T>A
c.365T>A
n.915T>A
n.882T>A
19g.11106635T>CCA505484947LDLRc.1023T>C (p.Cys341=)
c.765T>C (p.Cys255=)
c.1019T>C
c.314-757T>C (n.314-757T>C)
c.642T>C (p.Cys214=)
c.384T>C (p.Cys128=)
n.280T>C
c.365T>C
n.915T>C
n.882T>C
19g.11106635T>GCA404079884LDLRc.1023T>G (p.Cys341Trp)
c.765T>G (p.Cys255Trp)
c.1019T>G
c.314-757T>G (n.314-757T>G)
c.642T>G (p.Cys214Trp)
c.384T>G (p.Cys128Trp)
n.280T>G
c.365T>G
n.915T>G
n.882T>G
19g.11106636G>ACA404079889LDLRc.1024G>A (p.Asp342Asn)
c.766G>A (p.Asp256Asn)
c.1020G>A
c.314-756G>A (n.314-756G>A)
c.643G>A (p.Asp215Asn)
c.385G>A (p.Asp129Asn)
n.281G>A
c.366G>A
n.916G>A
n.883G>A
19g.11106636G>CCA404079892LDLRc.1024G>C (p.Asp342His)
c.766G>C (p.Asp256His)
c.1020G>C
c.314-756G>C (n.314-756G>C)
c.643G>C (p.Asp215His)
c.385G>C (p.Asp129His)
n.281G>C
c.366G>C
n.916G>C
n.883G>C
19g.11106636G>TCA404079897LDLRc.1024G>T (p.Asp342Tyr)
c.766G>T (p.Asp256Tyr)
c.1020G>T
c.314-756G>T (n.314-756G>T)
c.643G>T (p.Asp215Tyr)
c.385G>T (p.Asp129Tyr)
n.281G>T
c.366G>T
n.916G>T
n.883G>T
19g.11106637A=CA2322768184LDLRc.1025A= (p.Asp342=)
c.767A= (p.Asp256=)
c.1021A=
c.314-755A= (n.314-755A=)
c.644A= (p.Asp215=)
c.386A= (p.Asp129=)
n.282A=
c.367A=
n.917A=
n.884A=
19g.11106637A>CCA404079906LDLRc.1025A>C (p.Asp342Ala)
c.767A>C (p.Asp256Ala)
c.1021A>C
c.314-755A>C (n.314-755A>C)
c.644A>C (p.Asp215Ala)
c.386A>C (p.Asp129Ala)
n.282A>C
c.367A>C
n.917A>C
n.884A>C
19g.11106637A>GCA10585124LDLRc.1025A>G (p.Asp342Gly)
c.767A>G (p.Asp256Gly)
c.1021A>G
c.314-755A>G (n.314-755A>G)
c.644A>G (p.Asp215Gly)
c.386A>G (p.Asp129Gly)
n.282A>G
c.367A>G
n.917A>G
n.884A>G
 ClinVar dbSNP
19g.11106637A>TCA404079901LDLRc.1025A>T (p.Asp342Val)
c.767A>T (p.Asp256Val)
c.1021A>T
c.314-755A>T (n.314-755A>T)
c.644A>T (p.Asp215Val)
c.386A>T (p.Asp129Val)
n.282A>T
c.367A>T
n.917A>T
n.884A>T
19g.11106638C>ACA404079911LDLRc.1026C>A (p.Asp342Glu)
c.768C>A (p.Asp256Glu)
c.1022C>A
c.314-754C>A (n.314-754C>A)
c.645C>A (p.Asp215Glu)
c.387C>A (p.Asp129Glu)
n.283C>A
c.368C>A
n.918C>A
n.885C>A
 ClinVar dbSNP gnomAD v4
19g.11106638C=CA2322768185LDLRc.1026C= (p.Asp342=)
c.768C= (p.Asp256=)
c.1022C=
c.314-754C= (n.314-754C=)
c.645C= (p.Asp215=)
c.387C= (p.Asp129=)
n.283C=
c.368C=
n.918C=
n.885C=
19g.11106638C>GCA10585125LDLRc.1026C>G (p.Asp342Glu)
c.768C>G (p.Asp256Glu)
c.1022C>G
c.314-754C>G (n.314-754C>G)
c.645C>G (p.Asp215Glu)
c.387C>G (p.Asp129Glu)
n.283C>G
c.368C>G
n.918C>G
n.885C>G
 ClinVar dbSNP
19g.11106638C>TCA505484949LDLRc.1026C>T (p.Asp342=)
c.768C>T (p.Asp256=)
c.1022C>T
c.314-754C>T (n.314-754C>T)
c.645C>T (p.Asp215=)
c.387C>T (p.Asp129=)
n.283C>T
c.368C>T
n.918C>T
n.885C>T
 dbSNP gnomAD v2 gnomAD v4
19g.11106639C>ACA505484950LDLRc.1027C>A (p.Arg343=)
c.769C>A (p.Arg257=)
c.1023C>A
c.314-753C>A (n.314-753C>A)
c.646C>A (p.Arg216=)
c.388C>A (p.Arg130=)
n.284C>A
c.369C>A
n.919C>A
n.886C>A
19g.11106639C=CA2322768186LDLRc.1027C= (p.Arg343=)
c.769C= (p.Arg257=)
c.1023C=
c.314-753C= (n.314-753C=)
c.646C= (p.Arg216=)
c.388C= (p.Arg130=)
n.284C=
c.369C=
n.919C=
n.886C=
19g.11106639C>GCA404079917LDLRc.1027C>G (p.Arg343Gly)
c.769C>G (p.Arg257Gly)
c.1023C>G
c.314-753C>G (n.314-753C>G)
c.646C>G (p.Arg216Gly)
c.388C>G (p.Arg130Gly)
n.284C>G
c.369C>G
n.919C>G
n.886C>G
19g.11106639C>TCA029314LDLRc.1027C>T (p.Arg343Trp)
c.769C>T (p.Arg257Trp)
c.1023C>T
c.314-753C>T (n.314-753C>T)
c.646C>T (p.Arg216Trp)
c.388C>T (p.Arg130Trp)
n.284C>T
c.369C>T
n.919C>T
n.886C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11106639_11106640delinsCGCA2322768187LDLRc.1027_1028delinsCG (p.Arg343=)
c.769_770delinsCG (p.Arg257=)
c.1023_1024delinsCG
c.314-753_314-752delinsCG (n.314-753_314-752delinsCG)
c.646_647delinsCG (p.Arg216=)
c.388_389delinsCG (p.Arg130=)
n.284_285delinsCG
c.369_370delinsCG
n.919_920delinsCG
n.886_887delinsCG
19g.11106640G>ACA029330LDLRc.1028G>A (p.Arg343Gln)
c.770G>A (p.Arg257Gln)
c.1024G>A
c.314-752G>A (n.314-752G>A)
c.647G>A (p.Arg216Gln)
c.389G>A (p.Arg130Gln)
n.285G>A
c.370G>A
n.920G>A
n.887G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106640G>CCA404079930LDLRc.1028G>C (p.Arg343Pro)
c.770G>C (p.Arg257Pro)
c.1024G>C
c.314-752G>C (n.314-752G>C)
c.647G>C (p.Arg216Pro)
c.389G>C (p.Arg130Pro)
n.285G>C
c.370G>C
n.920G>C
n.887G>C
 ClinVar dbSNP
19g.11106640G=CA2322768188LDLRc.1028G= (p.Arg343=)
c.770G= (p.Arg257=)
c.1024G=
c.314-752G= (n.314-752G=)
c.647G= (p.Arg216=)
c.389G= (p.Arg130=)
n.285G=
c.370G=
n.920G=
n.887G=
19g.11106640G>TCA10585126LDLRc.1028G>T (p.Arg343Leu)
c.770G>T (p.Arg257Leu)
c.1024G>T
c.314-752G>T (n.314-752G>T)
c.647G>T (p.Arg216Leu)
c.389G>T (p.Arg130Leu)
n.285G>T
c.370G>T
n.920G>T
n.887G>T
 ClinVar dbSNP
19g.11106640_11106641delinsACCA023759LDLRc.1028_1029delinsAC (p.Arg343His)
c.770_771delinsAC (p.Arg257His)
c.1024_1025delinsAC
c.314-752_314-751delinsAC (n.314-752_314-751delinsAC)
c.647_648delinsAC (p.Arg216His)
c.389_390delinsAC (p.Arg130His)
n.285_286delinsAC
c.370_371delinsAC
n.920_921delinsAC
n.887_888delinsAC
 ClinVar dbSNP
19g.11106640_11106641delinsGGCA2322768189LDLRc.1028_1029delinsGG (p.Arg343=)
c.770_771delinsGG (p.Arg257=)
c.1024_1025delinsGG
c.314-752_314-751delinsGG (n.314-752_314-751delinsGG)
c.647_648delinsGG (p.Arg216=)
c.389_390delinsGG (p.Arg130=)
n.285_286delinsGG
c.370_371delinsGG
n.920_921delinsGG
n.887_888delinsGG
19g.11106642delCA913191017LDLRc.1030del (p.Glu344AsnfsTer7)
c.772del (p.Glu258AsnfsTer7)
c.1026del
c.314-750del (n.314-750del)
c.649del (p.Glu217AsnfsTer7)
c.391del (p.Glu131AsnfsTer7)
n.287del
c.372del
n.922del
n.889del
 ClinVar dbSNP
19g.11106641G>ACA505484951LDLRc.1029G>A (p.Arg343=)
c.771G>A (p.Arg257=)
c.1025G>A
c.314-751G>A (n.314-751G>A)
c.648G>A (p.Arg216=)
c.390G>A (p.Arg130=)
n.286G>A
c.371G>A
n.921G>A
n.888G>A
19g.11106641G>CCA505484952LDLRc.1029G>C (p.Arg343=)
c.771G>C (p.Arg257=)
c.1025G>C
c.314-751G>C (n.314-751G>C)
c.648G>C (p.Arg216=)
c.390G>C (p.Arg130=)
n.286G>C
c.371G>C
n.921G>C
n.888G>C
19g.11106641G>TCA505484953LDLRc.1029G>T (p.Arg343=)
c.771G>T (p.Arg257=)
c.1025G>T
c.314-751G>T (n.314-751G>T)
c.648G>T (p.Arg216=)
c.390G>T (p.Arg130=)
n.286G>T
c.371G>T
n.921G>T
n.888G>T
19g.11106642G>ACA10585127LDLRc.1030G>A (p.Glu344Lys)
c.772G>A (p.Glu258Lys)
c.1026G>A
c.314-750G>A (n.314-750G>A)
c.649G>A (p.Glu217Lys)
c.391G>A (p.Glu131Lys)
n.287G>A
c.372G>A
n.922G>A
n.889G>A
 ClinVar dbSNP gnomAD v4 COSMIC
19g.11106642G>CCA404079935LDLRc.1030G>C (p.Glu344Gln)
c.772G>C (p.Glu258Gln)
c.1026G>C
c.314-750G>C (n.314-750G>C)
c.649G>C (p.Glu217Gln)
c.391G>C (p.Glu131Gln)
n.287G>C
c.372G>C
n.922G>C
n.889G>C
19g.11106642G=CA2322768190LDLRc.1030G= (p.Glu344=)
c.772G= (p.Glu258=)
c.1026G=
c.314-750G= (n.314-750G=)
c.649G= (p.Glu217=)
c.391G= (p.Glu131=)
n.287G=
c.372G=
n.922G=
n.889G=
19g.11106642G>TCA10585128LDLRc.1030G>T (p.Glu344Ter)
c.772G>T (p.Glu258Ter)
c.1026G>T
c.314-750G>T (n.314-750G>T)
c.649G>T (p.Glu217Ter)
c.391G>T (p.Glu131Ter)
n.287G>T
c.372G>T
n.922G>T
n.889G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11106643A>CCA404079945LDLRc.1031A>C (p.Glu344Ala)
c.773A>C (p.Glu258Ala)
c.1027A>C
c.314-749A>C (n.314-749A>C)
c.650A>C (p.Glu217Ala)
c.392A>C (p.Glu131Ala)
n.288A>C
c.373A>C
n.923A>C
n.890A>C
 gnomAD v4
19g.11106643A>GCA404079948LDLRc.1031A>G (p.Glu344Gly)
c.773A>G (p.Glu258Gly)
c.1027A>G
c.314-749A>G (n.314-749A>G)
c.650A>G (p.Glu217Gly)
c.392A>G (p.Glu131Gly)
n.288A>G
c.373A>G
n.923A>G
n.890A>G
19g.11106643A>TCA404079949LDLRc.1031A>T (p.Glu344Val)
c.773A>T (p.Glu258Val)
c.1027A>T
c.314-749A>T (n.314-749A>T)
c.650A>T (p.Glu217Val)
c.392A>T (p.Glu131Val)
n.288A>T
c.373A>T
n.923A>T
n.890A>T
19g.11106643_11106645delinsAATCA2322768191LDLRc.1031_1033delinsAAT (p.Glu344=)
c.773_775delinsAAT (p.Glu258=)
c.1027_1029delinsAAT
c.314-749_314-747delinsAAT (n.314-749_314-747delinsAAT)
c.650_652delinsAAT (p.Glu217=)
c.392_394delinsAAT (p.Glu131=)
n.288_290delinsAAT
c.373_375delinsAAT
n.923_925delinsAAT
n.890_892delinsAAT
19g.11106644A=CA2322768192LDLRc.1032A= (p.Glu344=)
c.774A= (p.Glu258=)
c.1028A=
c.314-748A= (n.314-748A=)
c.651A= (p.Glu217=)
c.393A= (p.Glu131=)
n.289A=
c.374A=
n.924A=
n.891A=
19g.11106644A>CCA404079954LDLRc.1032A>C (p.Glu344Asp)
c.774A>C (p.Glu258Asp)
c.1028A>C
c.314-748A>C (n.314-748A>C)
c.651A>C (p.Glu217Asp)
c.393A>C (p.Glu131Asp)
n.289A>C
c.374A>C
n.924A>C
n.891A>C
 gnomAD v4
19g.11106644A>GCA505484954LDLRc.1032A>G (p.Glu344=)
c.774A>G (p.Glu258=)
c.1028A>G
c.314-748A>G (n.314-748A>G)
c.651A>G (p.Glu217=)
c.393A>G (p.Glu131=)
n.289A>G
c.374A>G
n.924A>G
n.891A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11106644A>TCA404079963LDLRc.1032A>T (p.Glu344Asp)
c.774A>T (p.Glu258Asp)
c.1028A>T
c.314-748A>T (n.314-748A>T)
c.651A>T (p.Glu217Asp)
c.393A>T (p.Glu131Asp)
n.289A>T
c.374A>T
n.924A>T
n.891A>T
19g.11106646_11106647delCA10585129LDLRc.1034_1035del (p.Tyr345Ter)
c.776_777del (p.Tyr259Ter)
c.1030_1031del
c.314-746_314-745del (n.314-746_314-745del)
c.653_654del (p.Tyr218Ter)
c.395_396del (p.Tyr132Ter)
n.291_292del
c.376_377del
n.926_927del
n.893_894del
 ClinVar dbSNP
19g.11106645T>ACA404079968LDLRc.1033T>A (p.Tyr345Asn)
c.775T>A (p.Tyr259Asn)
c.1029T>A
c.314-747T>A (n.314-747T>A)
c.652T>A (p.Tyr218Asn)
c.394T>A (p.Tyr132Asn)
n.290T>A
c.375T>A
n.925T>A
n.892T>A
19g.11106645T>CCA404079973LDLRc.1033T>C (p.Tyr345His)
c.775T>C (p.Tyr259His)
c.1029T>C
c.314-747T>C (n.314-747T>C)
c.652T>C (p.Tyr218His)
c.394T>C (p.Tyr132His)
n.290T>C
c.375T>C
n.925T>C
n.892T>C
19g.11106645T>GCA404079975LDLRc.1033T>G (p.Tyr345Asp)
c.775T>G (p.Tyr259Asp)
c.1029T>G
c.314-747T>G (n.314-747T>G)
c.652T>G (p.Tyr218Asp)
c.394T>G (p.Tyr132Asp)
n.290T>G
c.375T>G
n.925T>G
n.892T>G
19g.11106646A=CA2322768194LDLRc.1034A= (p.Tyr345=)
c.776A= (p.Tyr259=)
c.1030A=
c.314-746A= (n.314-746A=)
c.653A= (p.Tyr218=)
c.395A= (p.Tyr132=)
n.291A=
c.376A=
n.926A=
n.893A=
19g.11106646A>CCA404079979LDLRc.1034A>C (p.Tyr345Ser)
c.776A>C (p.Tyr259Ser)
c.1030A>C
c.314-746A>C (n.314-746A>C)
c.653A>C (p.Tyr218Ser)
c.395A>C (p.Tyr132Ser)
n.291A>C
c.376A>C
n.926A>C
n.893A>C
 ClinVar dbSNP
19g.11106646A>GCA404079981LDLRc.1034A>G (p.Tyr345Cys)
c.776A>G (p.Tyr259Cys)
c.1030A>G
c.314-746A>G (n.314-746A>G)
c.653A>G (p.Tyr218Cys)
c.395A>G (p.Tyr132Cys)
n.291A>G
c.376A>G
n.926A>G
n.893A>G
 dbSNP gnomAD v4
19g.11106646A>TCA404079984LDLRc.1034A>T (p.Tyr345Phe)
c.776A>T (p.Tyr259Phe)
c.1030A>T
c.314-746A>T (n.314-746A>T)
c.653A>T (p.Tyr218Phe)
c.395A>T (p.Tyr132Phe)
n.291A>T
c.376A>T
n.926A>T
n.893A>T
19g.11106646_11106650delinsATGACCA2322768193LDLRc.1034_1038delinsATGAC (p.Tyr345=)
c.776_780delinsATGAC (p.Tyr259=)
c.1030_1034delinsATGAC
c.314-746_314-742delinsATGAC (n.314-746_314-742delinsATGAC)
c.653_657delinsATGAC (p.Tyr218=)
c.395_399delinsATGAC (p.Tyr132=)
n.291_295delinsATGAC
c.376_380delinsATGAC
n.926_930delinsATGAC
n.893_897delinsATGAC
19g.11106650_11106663delCA2695195459LDLRc.1038_1051del (p.Asp346GlufsTer3)
c.780_793del (p.Asp260GlufsTer3)
c.1034_1047del
c.314-742_314-729del (n.314-742_314-729del)
c.657_670del (p.Asp219GlufsTer3)
c.399_412del (p.Asp133GlufsTer3)
n.295_308del
c.380_393del
n.930_943del
n.897_910del
19g.11106647T>ACA404079986LDLRc.1035T>A (p.Tyr345Ter)
c.777T>A (p.Tyr259Ter)
c.1031T>A
c.314-745T>A (n.314-745T>A)
c.654T>A (p.Tyr218Ter)
c.396T>A (p.Tyr132Ter)
n.292T>A
c.377T>A
n.927T>A
n.894T>A
19g.11106647T>CCA505484955LDLRc.1035T>C (p.Tyr345=)
c.777T>C (p.Tyr259=)
c.1031T>C
c.314-745T>C (n.314-745T>C)
c.654T>C (p.Tyr218=)
c.396T>C (p.Tyr132=)
n.292T>C
c.377T>C
n.927T>C
n.894T>C
19g.11106647T>GCA404079987LDLRc.1035T>G (p.Tyr345Ter)
c.777T>G (p.Tyr259Ter)
c.1031T>G
c.314-745T>G (n.314-745T>G)
c.654T>G (p.Tyr218Ter)
c.396T>G (p.Tyr132Ter)
n.292T>G
c.377T>G
n.927T>G
n.894T>G
 ClinVar dbSNP
19g.11106649_11106652delCA915951652LDLRc.1037_1040del (p.Asp346AlafsTer4)
c.779_782del (p.Asp260AlafsTer4)
c.1033_1036del
c.314-743_314-740del (n.314-743_314-740del)
c.656_659del (p.Asp219AlafsTer4)
c.398_401del (p.Asp133AlafsTer4)
n.294_297del
c.379_382del
n.929_932del
n.896_899del
 ClinVar dbSNP
19g.11106648G>ACA404079991LDLRc.1036G>A (p.Asp346Asn)
c.778G>A (p.Asp260Asn)
c.1032G>A
c.314-744G>A (n.314-744G>A)
c.655G>A (p.Asp219Asn)
c.397G>A (p.Asp133Asn)
n.293G>A
c.378G>A
n.928G>A
n.895G>A
19g.11106648G>CCA404079993LDLRc.1036G>C (p.Asp346His)
c.778G>C (p.Asp260His)
c.1032G>C
c.314-744G>C (n.314-744G>C)
c.655G>C (p.Asp219His)
c.397G>C (p.Asp133His)
n.293G>C
c.378G>C
n.928G>C
n.895G>C
19g.11106648G>TCA404079999LDLRc.1036G>T (p.Asp346Tyr)
c.778G>T (p.Asp260Tyr)
c.1032G>T
c.314-744G>T (n.314-744G>T)
c.655G>T (p.Asp219Tyr)
c.397G>T (p.Asp133Tyr)
n.293G>T
c.378G>T
n.928G>T
n.895G>T
 gnomAD v4
19g.11106649A=CA2322768195LDLRc.1037A= (p.Asp346=)
c.779A= (p.Asp260=)
c.1033A=
c.314-743A= (n.314-743A=)
c.656A= (p.Asp219=)
c.398A= (p.Asp133=)
n.294A=
c.379A=
n.929A=
n.896A=
19g.11106649A>CCA404080001LDLRc.1037A>C (p.Asp346Ala)
c.779A>C (p.Asp260Ala)
c.1033A>C
c.314-743A>C (n.314-743A>C)
c.656A>C (p.Asp219Ala)
c.398A>C (p.Asp133Ala)
n.294A>C
c.379A>C
n.929A>C
n.896A>C
19g.11106649A>GCA404080003LDLRc.1037A>G (p.Asp346Gly)
c.779A>G (p.Asp260Gly)
c.1033A>G
c.314-743A>G (n.314-743A>G)
c.656A>G (p.Asp219Gly)
c.398A>G (p.Asp133Gly)
n.294A>G
c.379A>G
n.929A>G
n.896A>G
 ClinVar dbSNP
19g.11106649A>TCA404080002LDLRc.1037A>T (p.Asp346Val)
c.779A>T (p.Asp260Val)
c.1033A>T
c.314-743A>T (n.314-743A>T)
c.656A>T (p.Asp219Val)
c.398A>T (p.Asp133Val)
n.294A>T
c.379A>T
n.929A>T
n.896A>T
19g.11106650C>ACA404080004LDLRc.1038C>A (p.Asp346Glu)
c.780C>A (p.Asp260Glu)
c.1034C>A
c.314-742C>A (n.314-742C>A)
c.657C>A (p.Asp219Glu)
c.399C>A (p.Asp133Glu)
n.295C>A
c.380C>A
n.930C>A
n.897C>A
 ClinVar dbSNP
19g.11106650C=CA2322768196LDLRc.1038C= (p.Asp346=)
c.780C= (p.Asp260=)
c.1034C=
c.314-742C= (n.314-742C=)
c.657C= (p.Asp219=)
c.399C= (p.Asp133=)
n.295C=
c.380C=
n.930C=
n.897C=
19g.11106650C>GCA404080005LDLRc.1038C>G (p.Asp346Glu)
c.780C>G (p.Asp260Glu)
c.1034C>G
c.314-742C>G (n.314-742C>G)
c.657C>G (p.Asp219Glu)
c.399C>G (p.Asp133Glu)
n.295C>G
c.380C>G
n.930C>G
n.897C>G
 dbSNP
19g.11106650C>TCA505484956LDLRc.1038C>T (p.Asp346=)
c.780C>T (p.Asp260=)
c.1034C>T
c.314-742C>T (n.314-742C>T)
c.657C>T (p.Asp219=)
c.399C>T (p.Asp133=)
n.295C>T
c.380C>T
n.930C>T
n.897C>T
 ClinVar
19g.11106650_11106651delinsCTCA2322768197LDLRc.1038_1039delinsCT (p.Asp346=)
c.780_781delinsCT (p.Asp260=)
c.1034_1035delinsCT
c.314-742_314-741delinsCT (n.314-742_314-741delinsCT)
c.657_658delinsCT (p.Asp219=)
c.399_400delinsCT (p.Asp133=)
n.295_296delinsCT
c.380_381delinsCT
n.930_931delinsCT
n.897_898delinsCT
19g.11106651delCA10585130LDLRc.1039del (p.Cys347AlafsTer4)
c.781del (p.Cys261AlafsTer4)
c.1035del
c.314-741del (n.314-741del)
c.658del (p.Cys220AlafsTer4)
c.400del (p.Cys134AlafsTer4)
n.296del
c.381del
n.931del
n.898del
 ClinVar dbSNP
19g.11106651T>ACA404080006LDLRc.1039T>A (p.Cys347Ser)
c.781T>A (p.Cys261Ser)
c.1035T>A
c.314-741T>A (n.314-741T>A)
c.658T>A (p.Cys220Ser)
c.400T>A (p.Cys134Ser)
n.296T>A
c.381T>A
n.931T>A
n.898T>A
 ClinVar dbSNP
19g.11106651T>CCA404080008LDLRc.1039T>C (p.Cys347Arg)
c.781T>C (p.Cys261Arg)
c.1035T>C
c.314-741T>C (n.314-741T>C)
c.658T>C (p.Cys220Arg)
c.400T>C (p.Cys134Arg)
n.296T>C
c.381T>C
n.931T>C
n.898T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11106651T>GCA404080020LDLRc.1039T>G (p.Cys347Gly)
c.781T>G (p.Cys261Gly)
c.1035T>G
c.314-741T>G (n.314-741T>G)
c.658T>G (p.Cys220Gly)
c.400T>G (p.Cys134Gly)
n.296T>G
c.381T>G
n.931T>G
n.898T>G
19g.11106651T=CA2322768198LDLRc.1039T= (p.Cys347=)
c.781T= (p.Cys261=)
c.1035T=
c.314-741T= (n.314-741T=)
c.658T= (p.Cys220=)
c.400T= (p.Cys134=)
n.296T=
c.381T=
n.931T=
n.898T=
19g.11106652G>ACA16602315LDLRc.1040G>A (p.Cys347Tyr)
c.782G>A (p.Cys261Tyr)
c.1036G>A
c.314-740G>A (n.314-740G>A)
c.659G>A (p.Cys220Tyr)
c.401G>A (p.Cys134Tyr)
n.297G>A
c.382G>A
n.932G>A
n.899G>A
 ClinVar dbSNP gnomAD v4
19g.11106652G>CCA404080025LDLRc.1040G>C (p.Cys347Ser)
c.782G>C (p.Cys261Ser)
c.1036G>C
c.314-740G>C (n.314-740G>C)
c.659G>C (p.Cys220Ser)
c.401G>C (p.Cys134Ser)
n.297G>C
c.382G>C
n.932G>C
n.899G>C
19g.11106652G=CA2322768199LDLRc.1040G= (p.Cys347=)
c.782G= (p.Cys261=)
c.1036G=
c.314-740G= (n.314-740G=)
c.659G= (p.Cys220=)
c.401G= (p.Cys134=)
n.297G=
c.382G=
n.932G=
n.899G=
19g.11106652G>TCA023761LDLRc.1040G>T (p.Cys347Phe)
c.782G>T (p.Cys261Phe)
c.1036G>T
c.314-740G>T (n.314-740G>T)
c.659G>T (p.Cys220Phe)
c.401G>T (p.Cys134Phe)
n.297G>T
c.382G>T
n.932G>T
n.899G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11106653C>ACA16602316LDLRc.1041C>A (p.Cys347Ter)
c.783C>A (p.Cys261Ter)
c.1037C>A
c.314-739C>A (n.314-739C>A)
c.660C>A (p.Cys220Ter)
c.402C>A (p.Cys134Ter)
n.298C>A
c.383C>A
n.933C>A
n.900C>A
 ClinVar dbSNP
19g.11106653C=CA2322768200LDLRc.1041C= (p.Cys347=)
c.783C= (p.Cys261=)
c.1037C=
c.314-739C= (n.314-739C=)
c.660C= (p.Cys220=)
c.402C= (p.Cys134=)
n.298C=
c.383C=
n.933C=
n.900C=
19g.11106653C>GCA404080030LDLRc.1041C>G (p.Cys347Trp)
c.783C>G (p.Cys261Trp)
c.1037C>G
c.314-739C>G (n.314-739C>G)
c.660C>G (p.Cys220Trp)
c.402C>G (p.Cys134Trp)
n.298C>G
c.383C>G
n.933C>G
n.900C>G
19g.11106653C>TCA505484957LDLRc.1041C>T (p.Cys347=)
c.783C>T (p.Cys261=)
c.1037C>T
c.314-739C>T (n.314-739C>T)
c.660C>T (p.Cys220=)
c.402C>T (p.Cys134=)
n.298C>T
c.383C>T
n.933C>T
n.900C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11106654A>CCA404080034LDLRc.1042A>C (p.Lys348Gln)
c.784A>C (p.Lys262Gln)
c.1038A>C
c.314-738A>C (n.314-738A>C)
c.661A>C (p.Lys221Gln)
c.403A>C (p.Lys135Gln)
n.299A>C
c.384A>C
n.934A>C
n.901A>C
19g.11106654A>GCA404080037LDLRc.1042A>G (p.Lys348Glu)
c.784A>G (p.Lys262Glu)
c.1038A>G
c.314-738A>G (n.314-738A>G)
c.661A>G (p.Lys221Glu)
c.403A>G (p.Lys135Glu)
n.299A>G
c.384A>G
n.934A>G
n.901A>G
19g.11106654A>TCA404080040LDLRc.1042A>T (p.Lys348Ter)
c.784A>T (p.Lys262Ter)
c.1038A>T
c.314-738A>T (n.314-738A>T)
c.661A>T (p.Lys221Ter)
c.403A>T (p.Lys135Ter)
n.299A>T
c.384A>T
n.934A>T
n.901A>T
19g.11106655A>CCA404080050LDLRc.1043A>C (p.Lys348Thr)
c.785A>C (p.Lys262Thr)
c.1039A>C
c.314-737A>C (n.314-737A>C)
c.662A>C (p.Lys221Thr)
c.404A>C (p.Lys135Thr)
n.300A>C
c.385A>C
n.935A>C
n.902A>C
19g.11106655A>GCA404080044LDLRc.1043A>G (p.Lys348Arg)
c.785A>G (p.Lys262Arg)
c.1039A>G
c.314-737A>G (n.314-737A>G)
c.662A>G (p.Lys221Arg)
c.404A>G (p.Lys135Arg)
n.300A>G
c.385A>G
n.935A>G
n.902A>G
19g.11106655A>TCA404080047LDLRc.1043A>T (p.Lys348Met)
c.785A>T (p.Lys262Met)
c.1039A>T
c.314-737A>T (n.314-737A>T)
c.662A>T (p.Lys221Met)
c.404A>T (p.Lys135Met)
n.300A>T
c.385A>T
n.935A>T
n.902A>T
19g.11106656G>ACA505484958LDLRc.1044G>A (p.Lys348=)
c.786G>A (p.Lys262=)
c.1040G>A
c.314-736G>A (n.314-736G>A)
c.663G>A (p.Lys221=)
c.405G>A (p.Lys135=)
n.301G>A
c.386G>A
n.936G>A
n.903G>A
 COSMIC
19g.11106656G>CCA404080055LDLRc.1044G>C (p.Lys348Asn)
c.786G>C (p.Lys262Asn)
c.1040G>C
c.314-736G>C (n.314-736G>C)
c.663G>C (p.Lys221Asn)
c.405G>C (p.Lys135Asn)
n.301G>C
c.386G>C
n.936G>C
n.903G>C
19g.11106656G>TCA404080057LDLRc.1044G>T (p.Lys348Asn)
c.786G>T (p.Lys262Asn)
c.1040G>T
c.314-736G>T (n.314-736G>T)
c.663G>T (p.Lys221Asn)
c.405G>T (p.Lys135Asn)
n.301G>T
c.386G>T
n.936G>T
n.903G>T
 gnomAD v4
19g.11106657G>ACA029359LDLRc.1045G>A (p.Asp349Asn)
c.787G>A (p.Asp263Asn)
c.1041G>A
c.314-735G>A (n.314-735G>A)
c.664G>A (p.Asp222Asn)
c.406G>A (p.Asp136Asn)
n.302G>A
c.387G>A
n.937G>A
n.904G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11106657G>CCA404080062LDLRc.1045G>C (p.Asp349His)
c.787G>C (p.Asp263His)
c.1041G>C
c.314-735G>C (n.314-735G>C)
c.664G>C (p.Asp222His)
c.406G>C (p.Asp136His)
n.302G>C
c.387G>C
n.937G>C
n.904G>C
19g.11106657G=CA2322768201LDLRc.1045G= (p.Asp349=)
c.787G= (p.Asp263=)
c.1041G=
c.314-735G= (n.314-735G=)
c.664G= (p.Asp222=)
c.406G= (p.Asp136=)
n.302G=
c.387G=
n.937G=
n.904G=
19g.11106657G>TCA404080066LDLRc.1045G>T (p.Asp349Tyr)
c.787G>T (p.Asp263Tyr)
c.1041G>T
c.314-735G>T (n.314-735G>T)
c.664G>T (p.Asp222Tyr)
c.406G>T (p.Asp136Tyr)
n.302G>T
c.387G>T
n.937G>T
n.904G>T
 ClinVar
19g.11106658A=CA2322768202LDLRc.1046A= (p.Asp349=)
c.788A= (p.Asp263=)
c.1042A=
c.314-734A= (n.314-734A=)
c.665A= (p.Asp222=)
c.407A= (p.Asp136=)
n.303A=
c.388A=
n.938A=
n.905A=
19g.11106658A>CCA404080071LDLRc.1046A>C (p.Asp349Ala)
c.788A>C (p.Asp263Ala)
c.1042A>C
c.314-734A>C (n.314-734A>C)
c.665A>C (p.Asp222Ala)
c.407A>C (p.Asp136Ala)
n.303A>C
c.388A>C
n.938A>C
n.905A>C
19g.11106658A>GCA305298382LDLRc.1046A>G (p.Asp349Gly)
c.788A>G (p.Asp263Gly)
c.1042A>G
c.314-734A>G (n.314-734A>G)
c.665A>G (p.Asp222Gly)
c.407A>G (p.Asp136Gly)
n.303A>G
c.388A>G
n.938A>G
n.905A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11106658A>TCA404080074LDLRc.1046A>T (p.Asp349Val)
c.788A>T (p.Asp263Val)
c.1042A>T
c.314-734A>T (n.314-734A>T)
c.665A>T (p.Asp222Val)
c.407A>T (p.Asp136Val)
n.303A>T
c.388A>T
n.938A>T
n.905A>T
19g.11106659C>ACA404080075LDLRc.1047C>A (p.Asp349Glu)
c.789C>A (p.Asp263Glu)
c.1043C>A
c.314-733C>A (n.314-733C>A)
c.666C>A (p.Asp222Glu)
c.408C>A (p.Asp136Glu)
n.304C>A
c.389C>A
n.939C>A
n.906C>A
19g.11106659C=CA2322768204LDLRc.1047C= (p.Asp349=)
c.789C= (p.Asp263=)
c.1043C=
c.314-733C= (n.314-733C=)
c.666C= (p.Asp222=)
c.408C= (p.Asp136=)
n.304C=
c.389C=
n.939C=
n.906C=
19g.11106659C>GCA404080077LDLRc.1047C>G (p.Asp349Glu)
c.789C>G (p.Asp263Glu)
c.1043C>G
c.314-733C>G (n.314-733C>G)
c.666C>G (p.Asp222Glu)
c.408C>G (p.Asp136Glu)
n.304C>G
c.389C>G
n.939C>G
n.906C>G
19g.11106659C>TCA505484959LDLRc.1047C>T (p.Asp349=)
c.789C>T (p.Asp263=)
c.1043C>T
c.314-733C>T (n.314-733C>T)
c.666C>T (p.Asp222=)
c.408C>T (p.Asp136=)
n.304C>T
c.389C>T
n.939C>T
n.906C>T
 dbSNP gnomAD v2 gnomAD v4
19g.11106659dupCA2497030138LDLRc.1047dup (p.Met350HisfsTer4)
c.789dup (p.Met264HisfsTer4)
c.1043dup
c.314-733dup (n.314-733dup)
c.666dup (p.Met223HisfsTer4)
c.408dup (p.Met137HisfsTer4)
n.304dup
c.389dup
n.939dup
n.906dup
19g.11106659_11106663delinsCATGACA2322768203LDLRc.1047_1051delinsCATGA (p.Asp349=)
c.789_793delinsCATGA (p.Asp263=)
c.1043_1047delinsCATGA
c.314-733_314-729delinsCATGA (n.314-733_314-729delinsCATGA)
c.666_670delinsCATGA (p.Asp222=)
c.408_412delinsCATGA (p.Asp136=)
n.304_308delinsCATGA
c.389_393delinsCATGA
n.939_943delinsCATGA
n.906_910delinsCATGA
19g.11106660A=CA2322768206LDLRc.1048A= (p.Met350=)
c.790A= (p.Met264=)
c.1044A=
c.314-732A= (n.314-732A=)
c.667A= (p.Met223=)
c.409A= (p.Met137=)
n.305A=
c.390A=
n.940A=
n.907A=
19g.11106660A>CCA023763LDLRc.1048A>C (p.Met350Leu)
c.790A>C (p.Met264Leu)
c.1044A>C
c.314-732A>C (n.314-732A>C)
c.667A>C (p.Met223Leu)
c.409A>C (p.Met137Leu)
n.305A>C
c.390A>C
n.940A>C
n.907A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106660A>GCA10585131LDLRc.1048A>G (p.Met350Val)
c.790A>G (p.Met264Val)
c.1044A>G
c.314-732A>G (n.314-732A>G)
c.667A>G (p.Met223Val)
c.409A>G (p.Met137Val)
n.305A>G
c.390A>G
n.940A>G
n.907A>G
 ClinVar dbSNP gnomAD v4
19g.11106660A>TCA404080083LDLRc.1048A>T (p.Met350Leu)
c.790A>T (p.Met264Leu)
c.1044A>T
c.314-732A>T (n.314-732A>T)
c.667A>T (p.Met223Leu)
c.409A>T (p.Met137Leu)
n.305A>T
c.390A>T
n.940A>T
n.907A>T
 gnomAD v4
19g.11106660_11106661delinsATCA2322768205LDLRc.1048_1049delinsAT (p.Met350=)
c.790_791delinsAT (p.Met264=)
c.1044_1045delinsAT
c.314-732_314-731delinsAT (n.314-732_314-731delinsAT)
c.667_668delinsAT (p.Met223=)
c.409_410delinsAT (p.Met137=)
n.305_306delinsAT
c.390_391delinsAT
n.940_941delinsAT
n.907_908delinsAT
19g.11106660_11106663delCA10585132LDLRc.1048_1051del (p.Met350AlafsTer9)
c.790_793del (p.Met264AlafsTer9)
c.1044_1047del
c.314-732_314-729del (n.314-732_314-729del)
c.667_670del (p.Met223AlafsTer9)
c.409_412del (p.Met137AlafsTer9)
n.305_308del
c.390_393del
n.940_943del
n.907_910del
 ClinVar dbSNP
19g.11106661_11106663delCA2573050588LDLRc.1049_1051del (p.Met350del)
c.791_793del (p.Met264del)
c.1045_1047del
c.314-731_314-729del (n.314-731_314-729del)
c.668_670del (p.Met223del)
c.410_412del (p.Met137del)
n.306_308del
c.391_393del
n.941_943del
n.908_910del
19g.11106661delCA1139666257LDLRc.1049del (p.Met350ArgfsTer10)
c.791del (p.Met264ArgfsTer10)
c.1045del
c.314-731del (n.314-731del)
c.668del (p.Met223ArgfsTer10)
c.410del (p.Met137ArgfsTer10)
n.306del
c.391del
n.941del
n.908del
 ClinVar dbSNP
19g.11106661T>ACA404080092LDLRc.1049T>A (p.Met350Lys)
c.791T>A (p.Met264Lys)
c.1045T>A
c.314-731T>A (n.314-731T>A)
c.668T>A (p.Met223Lys)
c.410T>A (p.Met137Lys)
n.306T>A
c.391T>A
n.941T>A
n.908T>A
19g.11106661T>CCA029390LDLRc.1049T>C (p.Met350Thr)
c.791T>C (p.Met264Thr)
c.1045T>C
c.314-731T>C (n.314-731T>C)
c.668T>C (p.Met223Thr)
c.410T>C (p.Met137Thr)
n.306T>C
c.391T>C
n.941T>C
n.908T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11106661T>GCA404080097LDLRc.1049T>G (p.Met350Arg)
c.791T>G (p.Met264Arg)
c.1045T>G
c.314-731T>G (n.314-731T>G)
c.668T>G (p.Met223Arg)
c.410T>G (p.Met137Arg)
n.306T>G
c.391T>G
n.941T>G
n.908T>G
19g.11106661T=CA2322768207LDLRc.1049T= (p.Met350=)
c.791T= (p.Met264=)
c.1045T=
c.314-731T= (n.314-731T=)
c.668T= (p.Met223=)
c.410T= (p.Met137=)
n.306T=
c.391T=
n.941T=
n.908T=
19g.11106662G>ACA404080102LDLRc.1050G>A (p.Met350Ile)
c.792G>A (p.Met264Ile)
c.1046G>A
c.314-730G>A (n.314-730G>A)
c.669G>A (p.Met223Ile)
c.411G>A (p.Met137Ile)
n.307G>A
c.392G>A
n.942G>A
n.909G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11106662G>CCA404080105LDLRc.1050G>C (p.Met350Ile)
c.792G>C (p.Met264Ile)
c.1046G>C
c.314-730G>C (n.314-730G>C)
c.669G>C (p.Met223Ile)
c.411G>C (p.Met137Ile)
n.307G>C
c.392G>C
n.942G>C
n.909G>C
19g.11106662G=CA2322768208LDLRc.1050G= (p.Met350=)
c.792G= (p.Met264=)
c.1046G=
c.314-730G= (n.314-730G=)
c.669G= (p.Met223=)
c.411G= (p.Met137=)
n.307G=
c.392G=
n.942G=
n.909G=
19g.11106662G>TCA404080106LDLRc.1050G>T (p.Met350Ile)
c.792G>T (p.Met264Ile)
c.1046G>T
c.314-730G>T (n.314-730G>T)
c.669G>T (p.Met223Ile)
c.411G>T (p.Met137Ile)
n.307G>T
c.392G>T
n.942G>T
n.909G>T
19g.11106663A=CA2322768209LDLRc.1051A= (p.Ser351=)
c.793A= (p.Ser265=)
c.1047A=
c.314-729A= (n.314-729A=)
c.670A= (p.Ser224=)
c.412A= (p.Ser138=)
n.308A=
c.393A=
n.943A=
n.910A=
19g.11106663A>CCA404080107LDLRc.1051A>C (p.Ser351Arg)
c.793A>C (p.Ser265Arg)
c.1047A>C
c.314-729A>C (n.314-729A>C)
c.670A>C (p.Ser224Arg)
c.412A>C (p.Ser138Arg)
n.308A>C
c.393A>C
n.943A>C
n.910A>C
19g.11106663A>GCA404080109LDLRc.1051A>G (p.Ser351Gly)
c.793A>G (p.Ser265Gly)
c.1047A>G
c.314-729A>G (n.314-729A>G)
c.670A>G (p.Ser224Gly)
c.412A>G (p.Ser138Gly)
n.308A>G
c.393A>G
n.943A>G
n.910A>G
19g.11106663A>TCA10585133LDLRc.1051A>T (p.Ser351Cys)
c.793A>T (p.Ser265Cys)
c.1047A>T
c.314-729A>T (n.314-729A>T)
c.670A>T (p.Ser224Cys)
c.412A>T (p.Ser138Cys)
n.308A>T
c.393A>T
n.943A>T
n.910A>T
 ClinVar dbSNP
19g.11106664G>ACA404080115LDLRc.1052G>A (p.Ser351Asn)
c.794G>A (p.Ser265Asn)
c.1048G>A
c.314-728G>A (n.314-728G>A)
c.671G>A (p.Ser224Asn)
c.413G>A (p.Ser138Asn)
n.309G>A
c.394G>A
n.944G>A
n.911G>A
 gnomAD v4
19g.11106664G>CCA404080118LDLRc.1052G>C (p.Ser351Thr)
c.794G>C (p.Ser265Thr)
c.1048G>C
c.314-728G>C (n.314-728G>C)
c.671G>C (p.Ser224Thr)
c.413G>C (p.Ser138Thr)
n.309G>C
c.394G>C
n.944G>C
n.911G>C
19g.11106664G>TCA404080123LDLRc.1052G>T (p.Ser351Ile)
c.794G>T (p.Ser265Ile)
c.1048G>T
c.314-728G>T (n.314-728G>T)
c.671G>T (p.Ser224Ile)
c.413G>T (p.Ser138Ile)
n.309G>T
c.394G>T
n.944G>T
n.911G>T
19g.11106665C>ACA404080125LDLRc.1053C>A (p.Ser351Arg)
c.795C>A (p.Ser265Arg)
c.1049C>A
c.314-727C>A (n.314-727C>A)
c.672C>A (p.Ser224Arg)
c.414C>A (p.Ser138Arg)
n.310C>A
c.395C>A
n.945C>A
n.912C>A
19g.11106665C=CA2322768210LDLRc.1053C= (p.Ser351=)
c.795C= (p.Ser265=)
c.1049C=
c.314-727C= (n.314-727C=)
c.672C= (p.Ser224=)
c.414C= (p.Ser138=)
n.310C=
c.395C=
n.945C=
n.912C=
19g.11106665C>GCA404080124LDLRc.1053C>G (p.Ser351Arg)
c.795C>G (p.Ser265Arg)
c.1049C>G
c.314-727C>G (n.314-727C>G)
c.672C>G (p.Ser224Arg)
c.414C>G (p.Ser138Arg)
n.310C>G
c.395C>G
n.945C>G
n.912C>G
19g.11106665C>TCA029404LDLRc.1053C>T (p.Ser351=)
c.795C>T (p.Ser265=)
c.1049C>T
c.314-727C>T (n.314-727C>T)
c.672C>T (p.Ser224=)
c.414C>T (p.Ser138=)
n.310C>T
c.395C>T
n.945C>T
n.912C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106665_11106669delinsCGATGCA2322768212LDLRc.1053_1057delinsCGATG (p.Ser351=)
c.795_799delinsCGATG (p.Ser265=)
c.1049_1053delinsCGATG
c.314-727_314-723delinsCGATG (n.314-727_314-723delinsCGATG)
c.672_676delinsCGATG (p.Ser224=)
c.414_418delinsCGATG (p.Ser138=)
n.310_314delinsCGATG
c.395_399delinsCGATG
n.945_949delinsCGATG
n.912_916delinsCGATG
19g.11106665_11106670delinsCGATGACA2322768211LDLRc.1053_1058delinsCGATGA (p.Ser351=)
c.795_800delinsCGATGA (p.Ser265=)
c.1049_1054delinsCGATGA
c.314-727_314-722delinsCGATGA (n.314-727_314-722delinsCGATGA)
c.672_677delinsCGATGA (p.Ser224=)
c.414_419delinsCGATGA (p.Ser138=)
n.310_315delinsCGATGA
c.395_400delinsCGATGA
n.945_950delinsCGATGA
n.912_917delinsCGATGA
19g.11106666G>ACA10576288LDLRc.1054G>A (p.Asp352Asn)
c.796G>A (p.Asp266Asn)
c.1050G>A
c.314-726G>A (n.314-726G>A)
c.673G>A (p.Asp225Asn)
c.415G>A (p.Asp139Asn)
n.311G>A
c.396G>A
n.946G>A
n.913G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11106666G>CCA404080132LDLRc.1054G>C (p.Asp352His)
c.796G>C (p.Asp266His)
c.1050G>C
c.314-726G>C (n.314-726G>C)
c.673G>C (p.Asp225His)
c.415G>C (p.Asp139His)
n.311G>C
c.396G>C
n.946G>C
n.913G>C
 ClinVar gnomAD v4
19g.11106666G=CA2322768213LDLRc.1054G= (p.Asp352=)
c.796G= (p.Asp266=)
c.1050G=
c.314-726G= (n.314-726G=)
c.673G= (p.Asp225=)
c.415G= (p.Asp139=)
n.311G=
c.396G=
n.946G=
n.913G=
19g.11106666G>TCA10585134LDLRc.1054G>T (p.Asp352Tyr)
c.796G>T (p.Asp266Tyr)
c.1050G>T
c.314-726G>T (n.314-726G>T)
c.673G>T (p.Asp225Tyr)
c.415G>T (p.Asp139Tyr)
n.311G>T
c.396G>T
n.946G>T
n.913G>T
 ClinVar dbSNP
19g.11106666_11106669delCA10585135LDLRc.1054_1057del (p.Asp352LysfsTer7)
c.796_799del (p.Asp266LysfsTer7)
c.1050_1053del
c.314-726_314-723del (n.314-726_314-723del)
c.673_676del (p.Asp225LysfsTer7)
c.415_418del (p.Asp139LysfsTer7)
n.311_314del
c.396_399del
n.946_949del
n.913_916del
 ClinVar dbSNP
19g.11106666_11106670delCA645509268LDLRc.1054_1058del (p.Asp352SerfsTer5)
c.796_800del (p.Asp266SerfsTer5)
c.1050_1054del
c.314-726_314-722del (n.314-726_314-722del)
c.673_677del (p.Asp225SerfsTer5)
c.415_419del (p.Asp139SerfsTer5)
n.311_315del
c.396_400del
n.946_950del
n.913_917del
 ClinVar dbSNP
19g.11106667A=CA2322768214LDLRc.1055A= (p.Asp352=)
c.797A= (p.Asp266=)
c.1051A=
c.314-725A= (n.314-725A=)
c.674A= (p.Asp225=)
c.416A= (p.Asp139=)
n.312A=
c.397A=
n.947A=
n.914A=
19g.11106667A>CCA404080138LDLRc.1055A>C (p.Asp352Ala)
c.797A>C (p.Asp266Ala)
c.1051A>C
c.314-725A>C (n.314-725A>C)
c.674A>C (p.Asp225Ala)
c.416A>C (p.Asp139Ala)
n.312A>C
c.397A>C
n.947A>C
n.914A>C
19g.11106667A>GCA10585136LDLRc.1055A>G (p.Asp352Gly)
c.797A>G (p.Asp266Gly)
c.1051A>G
c.314-725A>G (n.314-725A>G)
c.674A>G (p.Asp225Gly)
c.416A>G (p.Asp139Gly)
n.312A>G
c.397A>G
n.947A>G
n.914A>G
 ClinVar dbSNP
19g.11106667A>TCA10585137LDLRc.1055A>T (p.Asp352Val)
c.797A>T (p.Asp266Val)
c.1051A>T
c.314-725A>T (n.314-725A>T)
c.674A>T (p.Asp225Val)
c.416A>T (p.Asp139Val)
n.312A>T
c.397A>T
n.947A>T
n.914A>T
 ClinVar dbSNP
19g.11106668T>ACA023765LDLRc.1056T>A (p.Asp352Glu)
c.798T>A (p.Asp266Glu)
c.1052T>A
c.314-724T>A (n.314-724T>A)
c.675T>A (p.Asp225Glu)
c.417T>A (p.Asp139Glu)
n.313T>A
c.398T>A
n.948T>A
n.915T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106668T>CCA505484960LDLRc.1056T>C (p.Asp352=)
c.798T>C (p.Asp266=)
c.1052T>C
c.314-724T>C (n.314-724T>C)
c.675T>C (p.Asp225=)
c.417T>C (p.Asp139=)
n.313T>C
c.398T>C
n.948T>C
n.915T>C
 ClinVar dbSNP
19g.11106668T>GCA404080145LDLRc.1056T>G (p.Asp352Glu)
c.798T>G (p.Asp266Glu)
c.1052T>G
c.314-724T>G (n.314-724T>G)
c.675T>G (p.Asp225Glu)
c.417T>G (p.Asp139Glu)
n.313T>G
c.398T>G
n.948T>G
n.915T>G
19g.11106668T=CA2322768215LDLRc.1056T= (p.Asp352=)
c.798T= (p.Asp266=)
c.1052T=
c.314-724T= (n.314-724T=)
c.675T= (p.Asp225=)
c.417T= (p.Asp139=)
n.313T=
c.398T=
n.948T=
n.915T=
19g.11106670_11106679delCA2695238679LDLRc.1058_1067del (p.Glu353AlafsTer4)
c.800_809del (p.Glu267AlafsTer4)
c.1054_1063del
c.314-722_314-713del (n.314-722_314-713del)
c.677_686del (p.Glu226AlafsTer4)
c.419_428del (p.Glu140AlafsTer4)
n.315_324del
c.400_409del
n.950_959del
n.917_926del
19g.11106669G>ACA10585138LDLRc.1057G>A (p.Glu353Lys)
c.799G>A (p.Glu267Lys)
c.1053G>A
c.314-723G>A (n.314-723G>A)
c.676G>A (p.Glu226Lys)
c.418G>A (p.Glu140Lys)
n.314G>A
c.399G>A
n.949G>A
n.916G>A
 ClinVar dbSNP
19g.11106669G>CCA404080152LDLRc.1057G>C (p.Glu353Gln)
c.799G>C (p.Glu267Gln)
c.1053G>C
c.314-723G>C (n.314-723G>C)
c.676G>C (p.Glu226Gln)
c.418G>C (p.Glu140Gln)
n.314G>C
c.399G>C
n.949G>C
n.916G>C
19g.11106669G=CA2322768216LDLRc.1057G= (p.Glu353=)
c.799G= (p.Glu267=)
c.1053G=
c.314-723G= (n.314-723G=)
c.676G= (p.Glu226=)
c.418G= (p.Glu140=)
n.314G=
c.399G=
n.949G=
n.916G=
19g.11106669G>TCA404080155LDLRc.1057G>T (p.Glu353Ter)
c.799G>T (p.Glu267Ter)
c.1053G>T
c.314-723G>T (n.314-723G>T)
c.676G>T (p.Glu226Ter)
c.418G>T (p.Glu140Ter)
n.314G>T
c.399G>T
n.949G>T
n.916G>T
19g.11106670A=CA2322768217LDLRc.1058A= (p.Glu353=)
c.800A= (p.Glu267=)
c.1054A=
c.314-722A= (n.314-722A=)
c.677A= (p.Glu226=)
c.419A= (p.Glu140=)
n.315A=
c.400A=
n.950A=
n.917A=
19g.11106670A>CCA10585139LDLRc.1058A>C (p.Glu353Ala)
c.800A>C (p.Glu267Ala)
c.1054A>C
c.314-722A>C (n.314-722A>C)
c.677A>C (p.Glu226Ala)
c.419A>C (p.Glu140Ala)
n.315A>C
c.400A>C
n.950A>C
n.917A>C
 ClinVar dbSNP
19g.11106670A>GCA404080165LDLRc.1058A>G (p.Glu353Gly)
c.800A>G (p.Glu267Gly)
c.1054A>G
c.314-722A>G (n.314-722A>G)
c.677A>G (p.Glu226Gly)
c.419A>G (p.Glu140Gly)
n.315A>G
c.400A>G
n.950A>G
n.917A>G
19g.11106670A>TCA404080159LDLRc.1058A>T (p.Glu353Val)
c.800A>T (p.Glu267Val)
c.1054A>T
c.314-722A>T (n.314-722A>T)
c.677A>T (p.Glu226Val)
c.419A>T (p.Glu140Val)
n.315A>T
c.400A>T
n.950A>T
n.917A>T
19g.11106671A=CA2322768218LDLRc.1059A= (p.Glu353=)
c.801A= (p.Glu267=)
c.1055A=
c.314-721A= (n.314-721A=)
c.678A= (p.Glu226=)
c.420A= (p.Glu140=)
n.316A=
c.401A=
n.951A=
n.918A=
19g.11106671A>CCA404080171LDLRc.1059A>C (p.Glu353Asp)
c.801A>C (p.Glu267Asp)
c.1055A>C
c.314-721A>C (n.314-721A>C)
c.678A>C (p.Glu226Asp)
c.420A>C (p.Glu140Asp)
n.316A>C
c.401A>C
n.951A>C
n.918A>C
19g.11106671A>GCA505484961LDLRc.1059A>G (p.Glu353=)
c.801A>G (p.Glu267=)
c.1055A>G
c.314-721A>G (n.314-721A>G)
c.678A>G (p.Glu226=)
c.420A>G (p.Glu140=)
n.316A>G
c.401A>G
n.951A>G
n.918A>G
19g.11106671A>TCA10585140LDLRc.1059A>T (p.Glu353Asp)
c.801A>T (p.Glu267Asp)
c.1055A>T
c.314-721A>T (n.314-721A>T)
c.678A>T (p.Glu226Asp)
c.420A>T (p.Glu140Asp)
n.316A>T
c.401A>T
n.951A>T
n.918A>T
 ClinVar dbSNP
19g.11106672G>ACA029434LDLRc.1060G>A (p.Val354Ile)
c.802G>A (p.Val268Ile)
c.1056G>A
c.314-720G>A (n.314-720G>A)
c.679G>A (p.Val227Ile)
c.421G>A (p.Val141Ile)
n.317G>A
c.402G>A
n.952G>A
n.919G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11106672G>CCA404080177LDLRc.1060G>C (p.Val354Leu)
c.802G>C (p.Val268Leu)
c.1056G>C
c.314-720G>C (n.314-720G>C)
c.679G>C (p.Val227Leu)
c.421G>C (p.Val141Leu)
n.317G>C
c.402G>C
n.952G>C
n.919G>C
19g.11106672G=CA2322768219LDLRc.1060G= (p.Val354=)
c.802G= (p.Val268=)
c.1056G=
c.314-720G= (n.314-720G=)
c.679G= (p.Val227=)
c.421G= (p.Val141=)
n.317G=
c.402G=
n.952G=
n.919G=
19g.11106672G>TCA404080180LDLRc.1060G>T (p.Val354Phe)
c.802G>T (p.Val268Phe)
c.1056G>T
c.314-720G>T (n.314-720G>T)
c.679G>T (p.Val227Phe)
c.421G>T (p.Val141Phe)
n.317G>T
c.402G>T
n.952G>T
n.919G>T
19g.11106675_11106683delCA2697556240LDLRc.1063_1071del (p.Gly355_Val357del)
c.805_813del (p.Gly269_Val271del)
c.1059_1067del
c.314-717_314-709del (n.314-717_314-709del)
c.682_690del (p.Gly228_Val230del)
c.424_432del (p.Gly142_Val144del)
n.320_328del
c.405_413del
n.955_963del
n.922_930del
 ClinVar
19g.11106673T>ACA404080186LDLRc.1061T>A (p.Val354Asp)
c.803T>A (p.Val268Asp)
c.1057T>A
c.314-719T>A (n.314-719T>A)
c.680T>A (p.Val227Asp)
c.422T>A (p.Val141Asp)
n.318T>A
c.403T>A
n.953T>A
n.920T>A
19g.11106673T>CCA404080191LDLRc.1061T>C (p.Val354Ala)
c.803T>C (p.Val268Ala)
c.1057T>C
c.314-719T>C (n.314-719T>C)
c.680T>C (p.Val227Ala)
c.422T>C (p.Val141Ala)
n.318T>C
c.403T>C
n.953T>C
n.920T>C
19g.11106673T>GCA404080194LDLRc.1061T>G (p.Val354Gly)
c.803T>G (p.Val268Gly)
c.1057T>G
c.314-719T>G (n.314-719T>G)
c.680T>G (p.Val227Gly)
c.422T>G (p.Val141Gly)
n.318T>G
c.403T>G
n.953T>G
n.920T>G
19g.11106674T>ACA505484962LDLRc.1062T>A (p.Val354=)
c.804T>A (p.Val268=)
c.1058T>A
c.314-718T>A (n.314-718T>A)
c.681T>A (p.Val227=)
c.423T>A (p.Val141=)
n.319T>A
c.404T>A
n.954T>A
n.921T>A
19g.11106674T>CCA029447LDLRc.1062T>C (p.Val354=)
c.804T>C (p.Val268=)
c.1058T>C
c.314-718T>C (n.314-718T>C)
c.681T>C (p.Val227=)
c.423T>C (p.Val141=)
n.319T>C
c.404T>C
n.954T>C
n.921T>C
 ClinVar dbSNP ExAC gnomAD v2
19g.11106674T>GCA505484963LDLRc.1062T>G (p.Val354=)
c.804T>G (p.Val268=)
c.1058T>G
c.314-718T>G (n.314-718T>G)
c.681T>G (p.Val227=)
c.423T>G (p.Val141=)
n.319T>G
c.404T>G
n.954T>G
n.921T>G
19g.11106674T=CA2322768220LDLRc.1062T= (p.Val354=)
c.804T= (p.Val268=)
c.1058T=
c.314-718T= (n.314-718T=)
c.681T= (p.Val227=)
c.423T= (p.Val141=)
n.319T=
c.404T=
n.954T=
n.921T=
19g.11106675G>ACA404080212LDLRc.1063G>A (p.Gly355Ser)
c.805G>A (p.Gly269Ser)
c.1059G>A
c.314-717G>A (n.314-717G>A)
c.682G>A (p.Gly228Ser)
c.424G>A (p.Gly142Ser)
n.320G>A
c.405G>A
n.955G>A
n.922G>A
 ClinVar dbSNP
19g.11106675G>CCA404080217LDLRc.1063G>C (p.Gly355Arg)
c.805G>C (p.Gly269Arg)
c.1059G>C
c.314-717G>C (n.314-717G>C)
c.682G>C (p.Gly228Arg)
c.424G>C (p.Gly142Arg)
n.320G>C
c.405G>C
n.955G>C
n.922G>C
19g.11106675G=CA2322768221LDLRc.1063G= (p.Gly355=)
c.805G= (p.Gly269=)
c.1059G=
c.314-717G= (n.314-717G=)
c.682G= (p.Gly228=)
c.424G= (p.Gly142=)
n.320G=
c.405G=
n.955G=
n.922G=
19g.11106675G>TCA404080221LDLRc.1063G>T (p.Gly355Cys)
c.805G>T (p.Gly269Cys)
c.1059G>T
c.314-717G>T (n.314-717G>T)
c.682G>T (p.Gly228Cys)
c.424G>T (p.Gly142Cys)
n.320G>T
c.405G>T
n.955G>T
n.922G>T
19g.11106676G>ACA023767LDLRc.1064G>A (p.Gly355Asp)
c.806G>A (p.Gly269Asp)
c.1060G>A
c.314-716G>A (n.314-716G>A)
c.683G>A (p.Gly228Asp)
c.425G>A (p.Gly142Asp)
n.321G>A
c.406G>A
n.956G>A
n.923G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106676G>CCA404080230LDLRc.1064G>C (p.Gly355Ala)
c.806G>C (p.Gly269Ala)
c.1060G>C
c.314-716G>C (n.314-716G>C)
c.683G>C (p.Gly228Ala)
c.425G>C (p.Gly142Ala)
n.321G>C
c.406G>C
n.956G>C
n.923G>C
19g.11106676G=CA2322768222LDLRc.1064G= (p.Gly355=)
c.806G= (p.Gly269=)
c.1060G=
c.314-716G= (n.314-716G=)
c.683G= (p.Gly228=)
c.425G= (p.Gly142=)
n.321G=
c.406G=
n.956G=
n.923G=
19g.11106676G>TCA305298394LDLRc.1064G>T (p.Gly355Val)
c.806G>T (p.Gly269Val)
c.1060G>T
c.314-716G>T (n.314-716G>T)
c.683G>T (p.Gly228Val)
c.425G>T (p.Gly142Val)
n.321G>T
c.406G>T
n.956G>T
n.923G>T
 dbSNP
19g.11106677C>ACA505484966LDLRc.1065C>A (p.Gly355=)
c.807C>A (p.Gly269=)
c.1061C>A
c.314-715C>A (n.314-715C>A)
c.684C>A (p.Gly228=)
c.426C>A (p.Gly142=)
n.322C>A
c.407C>A
n.957C>A
n.924C>A
19g.11106677C=CA2322768223LDLRc.1065C= (p.Gly355=)
c.807C= (p.Gly269=)
c.1061C=
c.314-715C= (n.314-715C=)
c.684C= (p.Gly228=)
c.426C= (p.Gly142=)
n.322C=
c.407C=
n.957C=
n.924C=
19g.11106677C>GCA505484965LDLRc.1065C>G (p.Gly355=)
c.807C>G (p.Gly269=)
c.1061C>G
c.314-715C>G (n.314-715C>G)
c.684C>G (p.Gly228=)
c.426C>G (p.Gly142=)
n.322C>G
c.407C>G
n.957C>G
n.924C>G
19g.11106677C>TCA505484964LDLRc.1065C>T (p.Gly355=)
c.807C>T (p.Gly269=)
c.1061C>T
c.314-715C>T (n.314-715C>T)
c.684C>T (p.Gly228=)
c.426C>T (p.Gly142=)
n.322C>T
c.407C>T
n.957C>T
n.924C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11106678T>ACA10585141LDLRc.1066T>A (p.Cys356Ser)
c.808T>A (p.Cys270Ser)
c.1062T>A
c.314-714T>A (n.314-714T>A)
c.685T>A (p.Cys229Ser)
c.427T>A (p.Cys143Ser)
n.323T>A
c.408T>A
n.958T>A
n.925T>A
 ClinVar dbSNP
19g.11106678T>CCA10585142LDLRc.1066T>C (p.Cys356Arg)
c.808T>C (p.Cys270Arg)
c.1062T>C
c.314-714T>C (n.314-714T>C)
c.685T>C (p.Cys229Arg)
c.427T>C (p.Cys143Arg)
n.323T>C
c.408T>C
n.958T>C
n.925T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11106678T>GCA404080239LDLRc.1066T>G (p.Cys356Gly)
c.808T>G (p.Cys270Gly)
c.1062T>G
c.314-714T>G (n.314-714T>G)
c.685T>G (p.Cys229Gly)
c.427T>G (p.Cys143Gly)
n.323T>G
c.408T>G
n.958T>G
n.925T>G
 gnomAD v4
19g.11106678T=CA2322768224LDLRc.1066T= (p.Cys356=)
c.808T= (p.Cys270=)
c.1062T=
c.314-714T= (n.314-714T=)
c.685T= (p.Cys229=)
c.427T= (p.Cys143=)
n.323T=
c.408T=
n.958T=
n.925T=
19g.11106679G>ACA10585143LDLRc.1067G>A (p.Cys356Tyr)
c.809G>A (p.Cys270Tyr)
c.1063G>A
c.314-713G>A (n.314-713G>A)
c.686G>A (p.Cys229Tyr)
c.428G>A (p.Cys143Tyr)
n.324G>A
c.409G>A
n.959G>A
n.926G>A
 ClinVar dbSNP
19g.11106679G>CCA404080256LDLRc.1067G>C (p.Cys356Ser)
c.809G>C (p.Cys270Ser)
c.1063G>C
c.314-713G>C (n.314-713G>C)
c.686G>C (p.Cys229Ser)
c.428G>C (p.Cys143Ser)
n.324G>C
c.409G>C
n.959G>C
n.926G>C
19g.11106679G=CA2322768225LDLRc.1067G= (p.Cys356=)
c.809G= (p.Cys270=)
c.1063G=
c.314-713G= (n.314-713G=)
c.686G= (p.Cys229=)
c.428G= (p.Cys143=)
n.324G=
c.409G=
n.959G=
n.926G=
19g.11106679G>TCA404080260LDLRc.1067G>T (p.Cys356Phe)
c.809G>T (p.Cys270Phe)
c.1063G>T
c.314-713G>T (n.314-713G>T)
c.686G>T (p.Cys229Phe)
c.428G>T (p.Cys143Phe)
n.324G>T
c.409G>T
n.959G>T
n.926G>T
19g.11106680C>ACA10585144LDLRc.1068C>A (p.Cys356Ter)
c.810C>A (p.Cys270Ter)
c.1064C>A
c.314-712C>A (n.314-712C>A)
c.687C>A (p.Cys229Ter)
c.429C>A (p.Cys143Ter)
n.325C>A
c.410C>A
n.960C>A
n.927C>A
 ClinVar dbSNP gnomAD v4 COSMIC
19g.11106680C=CA2322768226LDLRc.1068C= (p.Cys356=)
c.810C= (p.Cys270=)
c.1064C=
c.314-712C= (n.314-712C=)
c.687C= (p.Cys229=)
c.429C= (p.Cys143=)
n.325C=
c.410C=
n.960C=
n.927C=
19g.11106680C>GCA404080270LDLRc.1068C>G (p.Cys356Trp)
c.810C>G (p.Cys270Trp)
c.1064C>G
c.314-712C>G (n.314-712C>G)
c.687C>G (p.Cys229Trp)
c.429C>G (p.Cys143Trp)
n.325C>G
c.410C>G
n.960C>G
n.927C>G
 ClinVar dbSNP
19g.11106680C>TCA029479LDLRc.1068C>T (p.Cys356=)
c.810C>T (p.Cys270=)
c.1064C>T
c.314-712C>T (n.314-712C>T)
c.687C>T (p.Cys229=)
c.429C>T (p.Cys143=)
n.325C>T
c.410C>T
n.960C>T
n.927C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106681G>ACA023769LDLRc.1069G>A (p.Val357Ile)
c.811G>A (p.Val271Ile)
c.1065G>A
c.314-711G>A (n.314-711G>A)
c.688G>A (p.Val230Ile)
c.430G>A (p.Val144Ile)
n.326G>A
c.411G>A
n.961G>A
n.928G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11106681G>CCA404080274LDLRc.1069G>C (p.Val357Leu)
c.811G>C (p.Val271Leu)
c.1065G>C
c.314-711G>C (n.314-711G>C)
c.688G>C (p.Val230Leu)
c.430G>C (p.Val144Leu)
n.326G>C
c.411G>C
n.961G>C
n.928G>C
19g.11106681G=CA2322768227LDLRc.1069G= (p.Val357=)
c.811G= (p.Val271=)
c.1065G=
c.314-711G= (n.314-711G=)
c.688G= (p.Val230=)
c.430G= (p.Val144=)
n.326G=
c.411G=
n.961G=
n.928G=
19g.11106681G>TCA404080277LDLRc.1069G>T (p.Val357Phe)
c.811G>T (p.Val271Phe)
c.1065G>T
c.314-711G>T (n.314-711G>T)
c.688G>T (p.Val230Phe)
c.430G>T (p.Val144Phe)
n.326G>T
c.411G>T
n.961G>T
n.928G>T
19g.11106682T>ACA404080282LDLRc.1070T>A (p.Val357Asp)
c.812T>A (p.Val271Asp)
c.1066T>A
c.314-710T>A (n.314-710T>A)
c.689T>A (p.Val230Asp)
c.431T>A (p.Val144Asp)
n.327T>A
c.412T>A
n.962T>A
n.929T>A
19g.11106682T>CCA404080283LDLRc.1070T>C (p.Val357Ala)
c.812T>C (p.Val271Ala)
c.1066T>C
c.314-710T>C (n.314-710T>C)
c.689T>C (p.Val230Ala)
c.431T>C (p.Val144Ala)
n.327T>C
c.412T>C
n.962T>C
n.929T>C
19g.11106682T>GCA404080284LDLRc.1070T>G (p.Val357Gly)
c.812T>G (p.Val271Gly)
c.1066T>G
c.314-710T>G (n.314-710T>G)
c.689T>G (p.Val230Gly)
c.431T>G (p.Val144Gly)
n.327T>G
c.412T>G
n.962T>G
n.929T>G
19g.11106683T>ACA505484967LDLRc.1071T>A (p.Val357=)
c.813T>A (p.Val271=)
c.1067T>A
c.314-709T>A (n.314-709T>A)
c.690T>A (p.Val230=)
c.432T>A (p.Val144=)
n.328T>A
c.413T>A
n.963T>A
n.930T>A
 gnomAD v4
19g.11106683T>CCA505484968LDLRc.1071T>C (p.Val357=)
c.813T>C (p.Val271=)
c.1067T>C
c.314-709T>C (n.314-709T>C)
c.690T>C (p.Val230=)
c.432T>C (p.Val144=)
n.328T>C
c.413T>C
n.963T>C
n.930T>C
19g.11106683T>GCA505484969LDLRc.1071T>G (p.Val357=)
c.813T>G (p.Val271=)
c.1067T>G
c.314-709T>G (n.314-709T>G)
c.690T>G (p.Val230=)
c.432T>G (p.Val144=)
n.328T>G
c.413T>G
n.963T>G
n.930T>G
19g.11106683_11106687delinsTAATGCA2322768228LDLRc.1071_1075delinsTAATG (p.Val357=)
c.813_817delinsTAATG (p.Val271=)
c.1067_1071delinsTAATG
c.314-709_314-705delinsTAATG (n.314-709_314-705delinsTAATG)
c.690_694delinsTAATG (p.Val230=)
c.432_436delinsTAATG (p.Val144=)
n.328_332delinsTAATG
c.413_417delinsTAATG
n.963_967delinsTAATG
n.930_934delinsTAATG
19g.11106684_11107392delCA645509269LDLRc.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
19g.11106684A>CCA404080294LDLRc.1072A>C (p.Asn358His)
c.814A>C (p.Asn272His)
c.1068A>C
c.314-708A>C (n.314-708A>C)
c.691A>C (p.Asn231His)
c.433A>C (p.Asn145His)
n.329A>C
c.414A>C
n.964A>C
n.931A>C
19g.11106684A>GCA404080297LDLRc.1072A>G (p.Asn358Asp)
c.814A>G (p.Asn272Asp)
c.1068A>G
c.314-708A>G (n.314-708A>G)
c.691A>G (p.Asn231Asp)
c.433A>G (p.Asn145Asp)
n.329A>G
c.414A>G
n.964A>G
n.931A>G
19g.11106684A>TCA404080291LDLRc.1072A>T (p.Asn358Tyr)
c.814A>T (p.Asn272Tyr)
c.1068A>T
c.314-708A>T (n.314-708A>T)
c.691A>T (p.Asn231Tyr)
c.433A>T (p.Asn145Tyr)
n.329A>T
c.414A>T
n.964A>T
n.931A>T
19g.11106684_11106687delCA10585145LDLRc.1072_1075del (p.Asn358Ter)
c.814_817del (p.Asn272Ter)
c.1068_1071del
c.314-708_314-705del (n.314-708_314-705del)
c.691_694del (p.Asn231Ter)
c.433_436del (p.Asn145Ter)
n.329_332del
c.414_417del
n.964_967del
n.931_934del
 ClinVar dbSNP
19g.11106685A=CA2322768229LDLRc.1073A= (p.Asn358=)
c.815A= (p.Asn272=)
c.1069A=
c.314-707A= (n.314-707A=)
c.692A= (p.Asn231=)
c.434A= (p.Asn145=)
n.330A=
c.415A=
n.965A=
n.932A=
19g.11106685A>CCA10585146LDLRc.1073A>C (p.Asn358Thr)
c.815A>C (p.Asn272Thr)
c.1069A>C
c.314-707A>C (n.314-707A>C)
c.692A>C (p.Asn231Thr)
c.434A>C (p.Asn145Thr)
n.330A>C
c.415A>C
n.965A>C
n.932A>C
 ClinVar dbSNP gnomAD v4
19g.11106685A>GCA404080304LDLRc.1073A>G (p.Asn358Ser)
c.815A>G (p.Asn272Ser)
c.1069A>G
c.314-707A>G (n.314-707A>G)
c.692A>G (p.Asn231Ser)
c.434A>G (p.Asn145Ser)
n.330A>G
c.415A>G
n.965A>G
n.932A>G
 gnomAD v4
19g.11106685A>TCA404080307LDLRc.1073A>T (p.Asn358Ile)
c.815A>T (p.Asn272Ile)
c.1069A>T
c.314-707A>T (n.314-707A>T)
c.692A>T (p.Asn231Ile)
c.434A>T (p.Asn145Ile)
n.330A>T
c.415A>T
n.965A>T
n.932A>T
19g.11106686T>ACA404080312LDLRc.1074T>A (p.Asn358Lys)
c.816T>A (p.Asn272Lys)
c.1070T>A
c.314-706T>A (n.314-706T>A)
c.693T>A (p.Asn231Lys)
c.435T>A (p.Asn145Lys)
n.331T>A
c.416T>A
n.966T>A
n.933T>A
 COSMIC
19g.11106686T>CCA505484970LDLRc.1074T>C (p.Asn358=)
c.816T>C (p.Asn272=)
c.1070T>C
c.314-706T>C (n.314-706T>C)
c.693T>C (p.Asn231=)
c.435T>C (p.Asn145=)
n.331T>C
c.416T>C
n.966T>C
n.933T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11106686T>GCA404080315LDLRc.1074T>G (p.Asn358Lys)
c.816T>G (p.Asn272Lys)
c.1070T>G
c.314-706T>G (n.314-706T>G)
c.693T>G (p.Asn231Lys)
c.435T>G (p.Asn145Lys)
n.331T>G
c.416T>G
n.966T>G
n.933T>G
19g.11106686T=CA2322768230LDLRc.1074T= (p.Asn358=)
c.816T= (p.Asn272=)
c.1070T=
c.314-706T= (n.314-706T=)
c.693T= (p.Asn231=)
c.435T= (p.Asn145=)
n.331T=
c.416T=
n.966T=
n.933T=
19g.11106687G>ACA404080320LDLRc.1075G>A (p.Val359Met)
c.817G>A (p.Val273Met)
c.1071G>A
c.314-705G>A (n.314-705G>A)
c.694G>A (p.Val232Met)
c.436G>A (p.Val146Met)
n.332G>A
c.417G>A
n.967G>A
n.934G>A
19g.11106687G>CCA404080324LDLRc.1075G>C (p.Val359Leu)
c.817G>C (p.Val273Leu)
c.1071G>C
c.314-705G>C (n.314-705G>C)
c.694G>C (p.Val232Leu)
c.436G>C (p.Val146Leu)
n.332G>C
c.417G>C
n.967G>C
n.934G>C
19g.11106687G=CA2322768231LDLRc.1075G= (p.Val359=)
c.817G= (p.Val273=)
c.1071G=
c.314-705G= (n.314-705G=)
c.694G= (p.Val232=)
c.436G= (p.Val146=)
n.332G=
c.417G=
n.967G=
n.934G=
19g.11106687G>TCA404080328LDLRc.1075G>T (p.Val359Leu)
c.817G>T (p.Val273Leu)
c.1071G>T
c.314-705G>T (n.314-705G>T)
c.694G>T (p.Val232Leu)
c.436G>T (p.Val146Leu)
n.332G>T
c.417G>T
n.967G>T
n.934G>T
 dbSNP gnomAD v2 gnomAD v4
19g.11106687_11106688insTGACACTCTCA2735607973LDLRc.1075_1075+1insTGACACTCT (n.1075_1075+1insTGACACTCT)
c.817_817+1insTGACACTCT (n.817_817+1insTGACACTCT)
c.1071_1071+1insTGACACTCT
c.314-705_314-704insTGACACTCT (n.314-705_314-704insTGACACTCT)
c.694_694+1insTGACACTCT (n.694_694+1insTGACACTCT)
c.436_436+1insTGACACTCT (n.436_436+1insTGACACTCT)
n.332_332+1insTGACACTCT
c.417_417+1insTGACACTCT
n.967_967+1insTGACACTCT
n.934_934+1insTGACACTCT
 dbSNP
19g.11106688G>ACA10585147LDLRc.1075+1G>A (n.1075+1G>A)
c.817+1G>A (n.817+1G>A)
c.1071+1G>A
c.314-704G>A (n.314-704G>A)
c.694+1G>A (n.694+1G>A)
c.436+1G>A (n.436+1G>A)
n.332+1G>A
c.417+1G>A
n.967+1G>A
n.934+1G>A
 ClinVar dbSNP
19g.11106688G>CCA404080337LDLRc.1075+1G>C (n.1075+1G>C)
c.817+1G>C (n.817+1G>C)
c.1071+1G>C
c.314-704G>C (n.314-704G>C)
c.694+1G>C (n.694+1G>C)
c.436+1G>C (n.436+1G>C)
n.332+1G>C
c.417+1G>C
n.967+1G>C
n.934+1G>C
 dbSNP gnomAD v2 gnomAD v4
19g.11106688G=CA2322768232LDLRc.1075+1G= (n.1075+1G=)
c.817+1G= (n.817+1G=)
c.1071+1G=
c.314-704G= (n.314-704G=)
c.694+1G= (n.694+1G=)
c.436+1G= (n.436+1G=)
n.332+1G=
c.417+1G=
n.967+1G=
n.934+1G=
19g.11106688G>TCA404080341LDLRc.1075+1G>T (n.1075+1G>T)
c.817+1G>T (n.817+1G>T)
c.1071+1G>T
c.314-704G>T (n.314-704G>T)
c.694+1G>T (n.694+1G>T)
c.436+1G>T (n.436+1G>T)
n.332+1G>T
c.417+1G>T
n.967+1G>T
n.934+1G>T
 ClinVar dbSNP
19g.11106688_11106689insCTGCA2573054703LDLRc.1075+1_1075+2insCTG (n.1075+1_1075+2insCTG)
c.817+1_817+2insCTG (n.817+1_817+2insCTG)
c.1071+1_1071+2insCTG
c.314-704_314-703insCTG (n.314-704_314-703insCTG)
c.694+1_694+2insCTG (n.694+1_694+2insCTG)
c.436+1_436+2insCTG (n.436+1_436+2insCTG)
n.332+1_332+2insCTG
c.417+1_417+2insCTG
n.967+1_967+2insCTG
n.934+1_934+2insCTG
 dbSNP
19g.11106689T>ACA404080348LDLRc.1075+2T>A (n.1075+2T>A)
c.817+2T>A (n.817+2T>A)
c.1071+2T>A
c.314-703T>A (n.314-703T>A)
c.694+2T>A (n.694+2T>A)
c.436+2T>A (n.436+2T>A)
n.332+2T>A
c.417+2T>A
n.967+2T>A
n.934+2T>A
19g.11106689T>CCA10585148LDLRc.1075+2T>C (n.1075+2T>C)
c.817+2T>C (n.817+2T>C)
c.1071+2T>C
c.314-703T>C (n.314-703T>C)
c.694+2T>C (n.694+2T>C)
c.436+2T>C (n.436+2T>C)
n.332+2T>C
c.417+2T>C
n.967+2T>C
n.934+2T>C
 ClinVar dbSNP gnomAD v4
19g.11106689T>GCA404080351LDLRc.1075+2T>G (n.1075+2T>G)
c.817+2T>G (n.817+2T>G)
c.1071+2T>G
c.314-703T>G (n.314-703T>G)
c.694+2T>G (n.694+2T>G)
c.436+2T>G (n.436+2T>G)
n.332+2T>G
c.417+2T>G
n.967+2T>G
n.934+2T>G
 ClinVar dbSNP
19g.11106689T=CA2322768233LDLRc.1075+2T= (n.1075+2T=)
c.817+2T= (n.817+2T=)
c.1071+2T=
c.314-703T= (n.314-703T=)
c.694+2T= (n.694+2T=)
c.436+2T= (n.436+2T=)
n.332+2T=
c.417+2T=
n.967+2T=
n.934+2T=
19g.11106690G>ACA2322768235LDLRc.1075+3G>A (n.1075+3G>A)
c.817+3G>A (n.817+3G>A)
c.1071+3G>A
c.314-702G>A (n.314-702G>A)
c.694+3G>A (n.694+3G>A)
c.436+3G>A (n.436+3G>A)
n.332+3G>A
c.417+3G>A
n.967+3G>A
n.934+3G>A
 dbSNP
19g.11106690G=CA2322768234LDLRc.1075+3G= (n.1075+3G=)
c.817+3G= (n.817+3G=)
c.1071+3G=
c.314-702G= (n.314-702G=)
c.694+3G= (n.694+3G=)
c.436+3G= (n.436+3G=)
n.332+3G=
c.417+3G=
n.967+3G=
n.934+3G=
19g.11106690G>TCA645617879LDLRc.1075+3G>T (n.1075+3G>T)
c.817+3G>T (n.817+3G>T)
c.1071+3G>T
c.314-702G>T (n.314-702G>T)
c.694+3G>T (n.694+3G>T)
c.436+3G>T (n.436+3G>T)
n.332+3G>T
c.417+3G>T
n.967+3G>T
n.934+3G>T
 COSMIC
19g.11106692G>CCA029578LDLRc.1075+5G>C (n.1075+5G>C)
c.817+5G>C (n.817+5G>C)
c.1071+5G>C
c.314-700G>C (n.314-700G>C)
c.694+5G>C (n.694+5G>C)
c.436+5G>C (n.436+5G>C)
n.332+5G>C
c.417+5G>C
n.967+5G>C
n.934+5G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11106692G=CA2322768236LDLRc.1075+5G= (n.1075+5G=)
c.817+5G= (n.817+5G=)
c.1071+5G=
c.314-700G= (n.314-700G=)
c.694+5G= (n.694+5G=)
c.436+5G= (n.436+5G=)
n.332+5G=
c.417+5G=
n.967+5G=
n.934+5G=
19g.11106693C=CA2322768237LDLRc.1075+6C= (n.1075+6C=)
c.817+6C= (n.817+6C=)
c.1071+6C=
c.314-699C= (n.314-699C=)
c.694+6C= (n.694+6C=)
c.436+6C= (n.436+6C=)
n.332+6C=
c.417+6C=
n.967+6C=
n.934+6C=
19g.11106693C>GCA2735343050LDLRc.1075+6C>G (n.1075+6C>G)
c.817+6C>G (n.817+6C>G)
c.1071+6C>G
c.314-699C>G (n.314-699C>G)
c.694+6C>G (n.694+6C>G)
c.436+6C>G (n.436+6C>G)
n.332+6C>G
c.417+6C>G
n.967+6C>G
n.934+6C>G
 dbSNP
19g.11106693C>TCA029590LDLRc.1075+6C>T (n.1075+6C>T)
c.817+6C>T (n.817+6C>T)
c.1071+6C>T
c.314-699C>T (n.314-699C>T)
c.694+6C>T (n.694+6C>T)
c.436+6C>T (n.436+6C>T)
n.332+6C>T
c.417+6C>T
n.967+6C>T
n.934+6C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106694G>ACA029625LDLRc.1075+7G>A (n.1075+7G>A)
c.817+7G>A (n.817+7G>A)
c.1071+7G>A
c.314-698G>A (n.314-698G>A)
c.694+7G>A (n.694+7G>A)
c.436+7G>A (n.436+7G>A)
n.332+7G>A
c.417+7G>A
n.967+7G>A
n.934+7G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106694G=CA2322768238LDLRc.1075+7G= (n.1075+7G=)
c.817+7G= (n.817+7G=)
c.1071+7G=
c.314-698G= (n.314-698G=)
c.694+7G= (n.694+7G=)
c.436+7G= (n.436+7G=)
n.332+7G=
c.417+7G=
n.967+7G=
n.934+7G=
19g.11106694G>TCA2322768239LDLRc.1075+7G>T (n.1075+7G>T)
c.817+7G>T (n.817+7G>T)
c.1071+7G>T
c.314-698G>T (n.314-698G>T)
c.694+7G>T (n.694+7G>T)
c.436+7G>T (n.436+7G>T)
n.332+7G>T
c.417+7G>T
n.967+7G>T
n.934+7G>T
 ClinVar dbSNP gnomAD v4
19g.11106696T>CCA029634LDLRc.1075+9T>C (n.1075+9T>C)
c.817+9T>C (n.817+9T>C)
c.1071+9T>C
c.314-696T>C (n.314-696T>C)
c.694+9T>C (n.694+9T>C)
c.436+9T>C (n.436+9T>C)
n.332+9T>C
c.417+9T>C
n.967+9T>C
n.934+9T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106696T=CA2322768240LDLRc.1075+9T= (n.1075+9T=)
c.817+9T= (n.817+9T=)
c.1071+9T=
c.314-696T= (n.314-696T=)
c.694+9T= (n.694+9T=)
c.436+9T= (n.436+9T=)
n.332+9T=
c.417+9T=
n.967+9T=
n.934+9T=
19g.11106698G>CCA2582473825LDLRc.1075+11G>C (n.1075+11G>C)
c.817+11G>C (n.817+11G>C)
c.1071+11G>C
c.314-694G>C (n.314-694G>C)
c.694+11G>C (n.694+11G>C)
c.436+11G>C (n.436+11G>C)
n.332+11G>C
c.417+11G>C
n.967+11G>C
n.934+11G>C
 gnomAD v4
19g.11106699C>TCA505484971LDLRc.1075+12C>T (n.1075+12C>T)
c.817+12C>T (n.817+12C>T)
c.1071+12C>T
c.314-693C>T (n.314-693C>T)
c.694+12C>T (n.694+12C>T)
c.436+12C>T (n.436+12C>T)
n.332+12C>T
c.417+12C>T
n.967+12C>T
n.934+12C>T
19g.11106700C=CA2322768241LDLRc.1075+13C= (n.1075+13C=)
c.817+13C= (n.817+13C=)
c.1071+13C=
c.314-692C= (n.314-692C=)
c.694+13C= (n.694+13C=)
c.436+13C= (n.436+13C=)
n.332+13C=
c.417+13C=
n.967+13C=
n.934+13C=
19g.11106700C>TCA305298404LDLRc.1075+13C>T (n.1075+13C>T)
c.817+13C>T (n.817+13C>T)
c.1071+13C>T
c.314-692C>T (n.314-692C>T)
c.694+13C>T (n.694+13C>T)
c.436+13C>T (n.436+13C>T)
n.332+13C>T
c.417+13C>T
n.967+13C>T
n.934+13C>T
 ClinVar dbSNP
19g.11106701A=CA2322768242LDLRc.1075+14A= (n.1075+14A=)
c.817+14A= (n.817+14A=)
c.1071+14A=
c.314-691A= (n.314-691A=)
c.694+14A= (n.694+14A=)
c.436+14A= (n.436+14A=)
n.332+14A=
c.417+14A=
n.967+14A=
n.934+14A=
19g.11106701A>GCA029522LDLRc.1075+14A>G (n.1075+14A>G)
c.817+14A>G (n.817+14A>G)
c.1071+14A>G
c.314-691A>G (n.314-691A>G)
c.694+14A>G (n.694+14A>G)
c.436+14A>G (n.436+14A>G)
n.332+14A>G
c.417+14A>G
n.967+14A>G
n.934+14A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106702T>ACA2576625918LDLRc.1075+15T>A (n.1075+15T>A)
c.817+15T>A (n.817+15T>A)
c.1071+15T>A
c.314-690T>A (n.314-690T>A)
c.694+15T>A (n.694+15T>A)
c.436+15T>A (n.436+15T>A)
n.332+15T>A
c.417+15T>A
n.967+15T>A
n.934+15T>A
 gnomAD v4
19g.11106703C>TCA2576625919LDLRc.1075+16C>T (n.1075+16C>T)
c.817+16C>T (n.817+16C>T)
c.1071+16C>T
c.314-689C>T (n.314-689C>T)
c.694+16C>T (n.694+16C>T)
c.436+16C>T (n.436+16C>T)
n.332+16C>T
c.417+16C>T
n.967+16C>T
n.934+16C>T
 gnomAD v4
19g.11106705G>CCA029541LDLRc.1075+18G>C (n.1075+18G>C)
c.817+18G>C (n.817+18G>C)
c.1071+18G>C
c.314-687G>C (n.314-687G>C)
c.694+18G>C (n.694+18G>C)
c.436+18G>C (n.436+18G>C)
n.332+18G>C
c.417+18G>C
n.967+18G>C
n.934+18G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11106705G=CA2322768243LDLRc.1075+18G= (n.1075+18G=)
c.817+18G= (n.817+18G=)
c.1071+18G=
c.314-687G= (n.314-687G=)
c.694+18G= (n.694+18G=)
c.436+18G= (n.436+18G=)
n.332+18G=
c.417+18G=
n.967+18G=
n.934+18G=
19g.11106706G>ACA783244132LDLRc.1075+19G>A (n.1075+19G>A)
c.817+19G>A (n.817+19G>A)
c.1071+19G>A
c.314-686G>A (n.314-686G>A)
c.694+19G>A (n.694+19G>A)
c.436+19G>A (n.436+19G>A)
n.332+19G>A
c.417+19G>A
n.967+19G>A
n.934+19G>A
 ClinVar dbSNP gnomAD v4
19g.11106706G=CA2322768244LDLRc.1075+19G= (n.1075+19G=)
c.817+19G= (n.817+19G=)
c.1071+19G=
c.314-686G= (n.314-686G=)
c.694+19G= (n.694+19G=)
c.436+19G= (n.436+19G=)
n.332+19G=
c.417+19G=
n.967+19G=
n.934+19G=
19g.11106708T>CCA2582473826LDLRc.1075+21T>C (n.1075+21T>C)
c.817+21T>C (n.817+21T>C)
c.1071+21T>C
c.314-684T>C (n.314-684T>C)
c.694+21T>C (n.694+21T>C)
c.436+21T>C (n.436+21T>C)
n.332+21T>C
c.417+21T>C
n.967+21T>C
n.934+21T>C
 gnomAD v4
19g.11106709T>CCA2576625921LDLRc.1075+22T>C (n.1075+22T>C)
c.817+22T>C (n.817+22T>C)
c.1071+22T>C
c.314-683T>C (n.314-683T>C)
c.694+22T>C (n.694+22T>C)
c.436+22T>C (n.436+22T>C)
n.332+22T>C
c.417+22T>C
n.967+22T>C
n.934+22T>C
 gnomAD v4
19g.11106711C=CA2322768245LDLRc.1075+24C= (n.1075+24C=)
c.817+24C= (n.817+24C=)
c.1071+24C=
c.314-681C= (n.314-681C=)
c.694+24C= (n.694+24C=)
c.436+24C= (n.436+24C=)
n.332+24C=
c.417+24C=
n.967+24C=
n.934+24C=
19g.11106711C>GCA2576625922LDLRc.1075+24C>G (n.1075+24C>G)
c.817+24C>G (n.817+24C>G)
c.1071+24C>G
c.314-681C>G (n.314-681C>G)
c.694+24C>G (n.694+24C>G)
c.436+24C>G (n.436+24C>G)
n.332+24C>G
c.417+24C>G
n.967+24C>G
n.934+24C>G
19g.11106711C>TCA2322768246LDLRc.1075+24C>T (n.1075+24C>T)
c.817+24C>T (n.817+24C>T)
c.1071+24C>T
c.314-681C>T (n.314-681C>T)
c.694+24C>T (n.694+24C>T)
c.436+24C>T (n.436+24C>T)
n.332+24C>T
c.417+24C>T
n.967+24C>T
n.934+24C>T
 dbSNP
19g.11106715C>ACA2582473827LDLRc.1075+28C>A (n.1075+28C>A)
c.817+28C>A (n.817+28C>A)
c.1071+28C>A
c.314-677C>A (n.314-677C>A)
c.694+28C>A (n.694+28C>A)
c.436+28C>A (n.436+28C>A)
n.332+28C>A
c.417+28C>A
n.967+28C>A
n.934+28C>A
 gnomAD v4
19g.11106715C=CA2322768247LDLRc.1075+28C= (n.1075+28C=)
c.817+28C= (n.817+28C=)
c.1071+28C=
c.314-677C= (n.314-677C=)
c.694+28C= (n.694+28C=)
c.436+28C= (n.436+28C=)
n.332+28C=
c.417+28C=
n.967+28C=
n.934+28C=
19g.11106715C>GCA631763913LDLRc.1075+28C>G (n.1075+28C>G)
c.817+28C>G (n.817+28C>G)
c.1071+28C>G
c.314-677C>G (n.314-677C>G)
c.694+28C>G (n.694+28C>G)
c.436+28C>G (n.436+28C>G)
n.332+28C>G
c.417+28C>G
n.967+28C>G
n.934+28C>G
 dbSNP gnomAD v2 gnomAD v4
19g.11106715C>TCA2576625923LDLRc.1075+28C>T (n.1075+28C>T)
c.817+28C>T (n.817+28C>T)
c.1071+28C>T
c.314-677C>T (n.314-677C>T)
c.694+28C>T (n.694+28C>T)
c.436+28C>T (n.436+28C>T)
n.332+28C>T
c.417+28C>T
n.967+28C>T
n.934+28C>T
 gnomAD v4
19g.11106716C>GCA2582473828LDLRc.1075+29C>G (n.1075+29C>G)
c.817+29C>G (n.817+29C>G)
c.1071+29C>G
c.314-676C>G (n.314-676C>G)
c.694+29C>G (n.694+29C>G)
c.436+29C>G (n.436+29C>G)
n.332+29C>G
c.417+29C>G
n.967+29C>G
n.934+29C>G
 gnomAD v4
19g.11106717C=CA2322768248LDLRc.1075+30C= (n.1075+30C=)
c.817+30C= (n.817+30C=)
c.1071+30C=
c.314-675C= (n.314-675C=)
c.694+30C= (n.694+30C=)
c.436+30C= (n.436+30C=)
n.332+30C=
c.417+30C=
n.967+30C=
n.934+30C=
19g.11106717C>TCA783244136LDLRc.1075+30C>T (n.1075+30C>T)
c.817+30C>T (n.817+30C>T)
c.1071+30C>T
c.314-675C>T (n.314-675C>T)
c.694+30C>T (n.694+30C>T)
c.436+30C>T (n.436+30C>T)
n.332+30C>T
c.417+30C>T
n.967+30C>T
n.934+30C>T
 dbSNP gnomAD v3 gnomAD v4
19g.11106718C=CA2322768249LDLRc.1075+31C= (n.1075+31C=)
c.817+31C= (n.817+31C=)
c.1071+31C=
c.314-674C= (n.314-674C=)
c.694+31C= (n.694+31C=)
c.436+31C= (n.436+31C=)
n.332+31C=
c.417+31C=
n.967+31C=
n.934+31C=
19g.11106718C>TCA2322768250LDLRc.1075+31C>T (n.1075+31C>T)
c.817+31C>T (n.817+31C>T)
c.1071+31C>T
c.314-674C>T (n.314-674C>T)
c.694+31C>T (n.694+31C>T)
c.436+31C>T (n.436+31C>T)
n.332+31C>T
c.417+31C>T
n.967+31C>T
n.934+31C>T
 dbSNP
19g.11106719C>TCA2582473829LDLRc.1075+32C>T (n.1075+32C>T)
c.817+32C>T (n.817+32C>T)
c.1071+32C>T
c.314-673C>T (n.314-673C>T)
c.694+32C>T (n.694+32C>T)
c.436+32C>T (n.436+32C>T)
n.332+32C>T
c.417+32C>T
n.967+32C>T
n.934+32C>T
 gnomAD v4
19g.11106721T>ACA2582473830LDLRc.1075+34T>A (n.1075+34T>A)
c.817+34T>A (n.817+34T>A)
c.1071+34T>A
c.314-671T>A (n.314-671T>A)
c.694+34T>A (n.694+34T>A)
c.436+34T>A (n.436+34T>A)
n.332+34T>A
c.417+34T>A
n.967+34T>A
n.934+34T>A
 gnomAD v4
19g.11106721T>CCA029554LDLRc.1075+34T>C (n.1075+34T>C)
c.817+34T>C (n.817+34T>C)
c.1071+34T>C
c.314-671T>C (n.314-671T>C)
c.694+34T>C (n.694+34T>C)
c.436+34T>C (n.436+34T>C)
n.332+34T>C
c.417+34T>C
n.967+34T>C
n.934+34T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11106721T=CA2322768251LDLRc.1075+34T= (n.1075+34T=)
c.817+34T= (n.817+34T=)
c.1071+34T=
c.314-671T= (n.314-671T=)
c.694+34T= (n.694+34T=)
c.436+34T= (n.436+34T=)
n.332+34T=
c.417+34T=
n.967+34T=
n.934+34T=
19g.11106723C>ACA2582473831LDLRc.1075+36C>A (n.1075+36C>A)
c.817+36C>A (n.817+36C>A)
c.1071+36C>A
c.314-669C>A (n.314-669C>A)
c.694+36C>A (n.694+36C>A)
c.436+36C>A (n.436+36C>A)
n.332+36C>A
c.417+36C>A
n.967+36C>A
n.934+36C>A
 gnomAD v4
19g.11106723C>TCA2582473832LDLRc.1075+36C>T (n.1075+36C>T)
c.817+36C>T (n.817+36C>T)
c.1071+36C>T
c.314-669C>T (n.314-669C>T)
c.694+36C>T (n.694+36C>T)
c.436+36C>T (n.436+36C>T)
n.332+36C>T
c.417+36C>T
n.967+36C>T
n.934+36C>T
 gnomAD v4
19g.11106727G>ACA305298407LDLRc.1075+40G>A (n.1075+40G>A)
c.817+40G>A (n.817+40G>A)
c.1071+40G>A
c.314-665G>A (n.314-665G>A)
c.694+40G>A (n.694+40G>A)
c.436+40G>A (n.436+40G>A)
n.332+40G>A
c.417+40G>A
n.967+40G>A
n.934+40G>A
 dbSNP gnomAD v3 gnomAD v4
19g.11106727G=CA2322768252LDLRc.1075+40G= (n.1075+40G=)
c.817+40G= (n.817+40G=)
c.1071+40G=
c.314-665G= (n.314-665G=)
c.694+40G= (n.694+40G=)
c.436+40G= (n.436+40G=)
n.332+40G=
c.417+40G=
n.967+40G=
n.934+40G=

Number of alleles fetched