Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.46524734G>ACA259968LOXHD1c.1381C>T (p.Arg461Ter)
c.1093C>T (p.Arg365Ter)
c.4714C>T (p.Arg1572Ter)
n.4027C>T
c.4096C>T (p.Arg1366Ter)
c.1513C>T (p.Arg505Ter)
c.2875C>T (p.Arg959Ter)
c.1378C>T (p.Arg460Ter)
c.3196C>T (p.Arg1066Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
18g.46524734G>CCA402373167LOXHD1c.1381C>G (p.Arg461Gly)
c.1093C>G (p.Arg365Gly)
c.4714C>G (p.Arg1572Gly)
n.4027C>G
c.4096C>G (p.Arg1366Gly)
c.1513C>G (p.Arg505Gly)
c.2875C>G (p.Arg959Gly)
c.1378C>G (p.Arg460Gly)
c.3196C>G (p.Arg1066Gly)
18g.46524734G=CA2300872200LOXHD1c.1381C= (p.Arg461=)
c.1093C= (p.Arg365=)
c.4714C= (p.Arg1572=)
n.4027C=
c.4096C= (p.Arg1366=)
c.1513C= (p.Arg505=)
c.2875C= (p.Arg959=)
c.1378C= (p.Arg460=)
c.3196C= (p.Arg1066=)
18g.46524734G>TCA142226LOXHD1c.1381C>A (p.Arg461=)
c.1093C>A (p.Arg365=)
c.4714C>A (p.Arg1572=)
n.4027C>A
c.4096C>A (p.Arg1366=)
c.1513C>A (p.Arg505=)
c.2875C>A (p.Arg959=)
c.1378C>A (p.Arg460=)
c.3196C>A (p.Arg1066=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.46524734_46524735insGTTGTCA2641674653LOXHD1c.1380_1381insACAAC (p.Arg461ThrfsTer?)
c.1092_1093insACAAC (p.Arg365ThrfsTer?)
c.4713_4714insACAAC (p.Arg1572ThrfsTer?)
n.4026_4027insACAAC
c.4095_4096insACAAC (p.Arg1366ThrfsTer?)
c.1512_1513insACAAC (p.Arg505ThrfsTer?)
c.2874_2875insACAAC (p.Arg959ThrfsTer?)
c.1377_1378insACAAC (p.Arg460ThrfsTer?)
c.3195_3196insACAAC (p.Arg1066ThrfsTer?)
 gnomAD v4
18g.46524735C>ACA503809415LOXHD1c.1380G>T (p.Gly460=)
c.1092G>T (p.Gly364=)
c.4713G>T (p.Gly1571=)
n.4026G>T
c.4095G>T (p.Gly1365=)
c.1512G>T (p.Gly504=)
c.2874G>T (p.Gly958=)
c.1377G>T (p.Gly459=)
c.3195G>T (p.Gly1065=)
18g.46524735C>GCA503809417LOXHD1c.1380G>C (p.Gly460=)
c.1092G>C (p.Gly364=)
c.4713G>C (p.Gly1571=)
n.4026G>C
c.4095G>C (p.Gly1365=)
c.1512G>C (p.Gly504=)
c.2874G>C (p.Gly958=)
c.1377G>C (p.Gly459=)
c.3195G>C (p.Gly1065=)
18g.46524735C>TCA503809416LOXHD1c.1380G>A (p.Gly460=)
c.1092G>A (p.Gly364=)
c.4713G>A (p.Gly1571=)
n.4026G>A
c.4095G>A (p.Gly1365=)
c.1512G>A (p.Gly504=)
c.2874G>A (p.Gly958=)
c.1377G>A (p.Gly459=)
c.3195G>A (p.Gly1065=)
18g.46524735_46524736insACACTCTTATGTTTAAGAGAACTGACTATGAAAGTAGTGCATTCAAATGTTTGATAGGCA2641674654LOXHD1c.1379_1380insCCTATCAAACATTTGAATGCACTACTTTCATAGTCAGTTCTCTTAAACATAAGAGTGT (p.Arg461LeufsTer5)
c.1091_1092insCCTATCAAACATTTGAATGCACTACTTTCATAGTCAGTTCTCTTAAACATAAGAGTGT (p.Arg365LeufsTer5)
c.4712_4713insCCTATCAAACATTTGAATGCACTACTTTCATAGTCAGTTCTCTTAAACATAAGAGTGT (p.Arg1572LeufsTer5)
n.4025_4026insCCTATCAAACATTTGAATGCACTACTTTCATAGTCAGTTCTCTTAAACATAAGAGTGT
c.4094_4095insCCTATCAAACATTTGAATGCACTACTTTCATAGTCAGTTCTCTTAAACATAAGAGTGT (p.Arg1366LeufsTer5)
c.1511_1512insCCTATCAAACATTTGAATGCACTACTTTCATAGTCAGTTCTCTTAAACATAAGAGTGT (p.Arg505LeufsTer5)
c.2873_2874insCCTATCAAACATTTGAATGCACTACTTTCATAGTCAGTTCTCTTAAACATAAGAGTGT (p.Arg959LeufsTer5)
c.1376_1377insCCTATCAAACATTTGAATGCACTACTTTCATAGTCAGTTCTCTTAAACATAAGAGTGT (p.Arg460LeufsTer5)
c.3194_3195insCCTATCAAACATTTGAATGCACTACTTTCATAGTCAGTTCTCTTAAACATAAGAGTGT (p.Arg1066LeufsTer5)
 gnomAD v4
18g.46524736C>ACA402373168LOXHD1c.1379G>T (p.Gly460Val)
c.1091G>T (p.Gly364Val)
c.4712G>T (p.Gly1571Val)
n.4025G>T
c.4094G>T (p.Gly1365Val)
c.1511G>T (p.Gly504Val)
c.2873G>T (p.Gly958Val)
c.1376G>T (p.Gly459Val)
c.3194G>T (p.Gly1065Val)
18g.46524736C>GCA402373169LOXHD1c.1379G>C (p.Gly460Ala)
c.1091G>C (p.Gly364Ala)
c.4712G>C (p.Gly1571Ala)
n.4025G>C
c.4094G>C (p.Gly1365Ala)
c.1511G>C (p.Gly504Ala)
c.2873G>C (p.Gly958Ala)
c.1376G>C (p.Gly459Ala)
c.3194G>C (p.Gly1065Ala)
18g.46524736C>TCA402373170LOXHD1c.1379G>A (p.Gly460Glu)
c.1091G>A (p.Gly364Glu)
c.4712G>A (p.Gly1571Glu)
n.4025G>A
c.4094G>A (p.Gly1365Glu)
c.1511G>A (p.Gly504Glu)
c.2873G>A (p.Gly958Glu)
c.1376G>A (p.Gly459Glu)
c.3194G>A (p.Gly1065Glu)
18g.46524737C>ACA402373171LOXHD1c.1378G>T (p.Gly460Trp)
c.1090G>T (p.Gly364Trp)
c.4711G>T (p.Gly1571Trp)
n.4024G>T
c.4093G>T (p.Gly1365Trp)
c.1510G>T (p.Gly504Trp)
c.2872G>T (p.Gly958Trp)
c.1375G>T (p.Gly459Trp)
c.3193G>T (p.Gly1065Trp)
 gnomAD v4
18g.46524737C=CA2300872201LOXHD1c.1378G= (p.Gly460=)
c.1090G= (p.Gly364=)
c.4711G= (p.Gly1571=)
n.4024G=
c.4093G= (p.Gly1365=)
c.1510G= (p.Gly504=)
c.2872G= (p.Gly958=)
c.1375G= (p.Gly459=)
c.3193G= (p.Gly1065=)
18g.46524737C>GCA402373172LOXHD1c.1378G>C (p.Gly460Arg)
c.1090G>C (p.Gly364Arg)
c.4711G>C (p.Gly1571Arg)
n.4024G>C
c.4093G>C (p.Gly1365Arg)
c.1510G>C (p.Gly504Arg)
c.2872G>C (p.Gly958Arg)
c.1375G>C (p.Gly459Arg)
c.3193G>C (p.Gly1065Arg)
18g.46524737C>TCA402373173LOXHD1c.1378G>A (p.Gly460Arg)
c.1090G>A (p.Gly364Arg)
c.4711G>A (p.Gly1571Arg)
n.4024G>A
c.4093G>A (p.Gly1365Arg)
c.1510G>A (p.Gly504Arg)
c.2872G>A (p.Gly958Arg)
c.1375G>A (p.Gly459Arg)
c.3193G>A (p.Gly1065Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.46524738A=CA2300872202LOXHD1c.1377T= (p.Asp459=)
c.1089T= (p.Asp363=)
c.4710T= (p.Asp1570=)
n.4023T=
c.4092T= (p.Asp1364=)
c.1509T= (p.Asp503=)
c.2871T= (p.Asp957=)
c.1374T= (p.Asp458=)
c.3192T= (p.Asp1064=)
18g.46524738A>CCA402373174LOXHD1c.1377T>G (p.Asp459Glu)
c.1089T>G (p.Asp363Glu)
c.4710T>G (p.Asp1570Glu)
n.4023T>G
c.4092T>G (p.Asp1364Glu)
c.1509T>G (p.Asp503Glu)
c.2871T>G (p.Asp957Glu)
c.1374T>G (p.Asp458Glu)
c.3192T>G (p.Asp1064Glu)
18g.46524738A>GCA503809418LOXHD1c.1377T>C (p.Asp459=)
c.1089T>C (p.Asp363=)
c.4710T>C (p.Asp1570=)
n.4023T>C
c.4092T>C (p.Asp1364=)
c.1509T>C (p.Asp503=)
c.2871T>C (p.Asp957=)
c.1374T>C (p.Asp458=)
c.3192T>C (p.Asp1064=)
 dbSNP
18g.46524738A>TCA402373175LOXHD1c.1377T>A (p.Asp459Glu)
c.1089T>A (p.Asp363Glu)
c.4710T>A (p.Asp1570Glu)
n.4023T>A
c.4092T>A (p.Asp1364Glu)
c.1509T>A (p.Asp503Glu)
c.2871T>A (p.Asp957Glu)
c.1374T>A (p.Asp458Glu)
c.3192T>A (p.Asp1064Glu)
18g.46524739T>ACA402373176LOXHD1c.1376A>T (p.Asp459Val)
c.1088A>T (p.Asp363Val)
c.4709A>T (p.Asp1570Val)
n.4022A>T
c.4091A>T (p.Asp1364Val)
c.1508A>T (p.Asp503Val)
c.2870A>T (p.Asp957Val)
c.1373A>T (p.Asp458Val)
c.3191A>T (p.Asp1064Val)
 gnomAD v4
18g.46524739T>CCA402373177LOXHD1c.1376A>G (p.Asp459Gly)
c.1088A>G (p.Asp363Gly)
c.4709A>G (p.Asp1570Gly)
n.4022A>G
c.4091A>G (p.Asp1364Gly)
c.1508A>G (p.Asp503Gly)
c.2870A>G (p.Asp957Gly)
c.1373A>G (p.Asp458Gly)
c.3191A>G (p.Asp1064Gly)
18g.46524739T>GCA402373178LOXHD1c.1376A>C (p.Asp459Ala)
c.1088A>C (p.Asp363Ala)
c.4709A>C (p.Asp1570Ala)
n.4022A>C
c.4091A>C (p.Asp1364Ala)
c.1508A>C (p.Asp503Ala)
c.2870A>C (p.Asp957Ala)
c.1373A>C (p.Asp458Ala)
c.3191A>C (p.Asp1064Ala)
18g.46524740C>ACA402373180LOXHD1c.1375G>T (p.Asp459Tyr)
c.1087G>T (p.Asp363Tyr)
c.4708G>T (p.Asp1570Tyr)
n.4021G>T
c.4090G>T (p.Asp1364Tyr)
c.1507G>T (p.Asp503Tyr)
c.2869G>T (p.Asp957Tyr)
c.1372G>T (p.Asp458Tyr)
c.3190G>T (p.Asp1064Tyr)
 gnomAD v4
18g.46524740C=CA2300872203LOXHD1c.1375G= (p.Asp459=)
c.1087G= (p.Asp363=)
c.4708G= (p.Asp1570=)
n.4021G=
c.4090G= (p.Asp1364=)
c.1507G= (p.Asp503=)
c.2869G= (p.Asp957=)
c.1372G= (p.Asp458=)
c.3190G= (p.Asp1064=)
18g.46524740C>GCA402373179LOXHD1c.1375G>C (p.Asp459His)
c.1087G>C (p.Asp363His)
c.4708G>C (p.Asp1570His)
n.4021G>C
c.4090G>C (p.Asp1364His)
c.1507G>C (p.Asp503His)
c.2869G>C (p.Asp957His)
c.1372G>C (p.Asp458His)
c.3190G>C (p.Asp1064His)
18g.46524740C>TCA299801807LOXHD1c.1375G>A (p.Asp459Asn)
c.1087G>A (p.Asp363Asn)
c.4708G>A (p.Asp1570Asn)
n.4021G>A
c.4090G>A (p.Asp1364Asn)
c.1507G>A (p.Asp503Asn)
c.2869G>A (p.Asp957Asn)
c.1372G>A (p.Asp458Asn)
c.3190G>A (p.Asp1064Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.46524741C>ACA402373181LOXHD1c.1374G>T (p.Glu458Asp)
c.1086G>T (p.Glu362Asp)
c.4707G>T (p.Glu1569Asp)
n.4020G>T
c.4089G>T (p.Glu1363Asp)
c.1506G>T (p.Glu502Asp)
c.2868G>T (p.Glu956Asp)
c.1371G>T (p.Glu457Asp)
c.3189G>T (p.Glu1063Asp)
18g.46524741C>GCA402373182LOXHD1c.1374G>C (p.Glu458Asp)
c.1086G>C (p.Glu362Asp)
c.4707G>C (p.Glu1569Asp)
n.4020G>C
c.4089G>C (p.Glu1363Asp)
c.1506G>C (p.Glu502Asp)
c.2868G>C (p.Glu956Asp)
c.1371G>C (p.Glu457Asp)
c.3189G>C (p.Glu1063Asp)
 gnomAD v4
18g.46524741C>TCA503809419LOXHD1c.1374G>A (p.Glu458=)
c.1086G>A (p.Glu362=)
c.4707G>A (p.Glu1569=)
n.4020G>A
c.4089G>A (p.Glu1363=)
c.1506G>A (p.Glu502=)
c.2868G>A (p.Glu956=)
c.1371G>A (p.Glu457=)
c.3189G>A (p.Glu1063=)
18g.46524742T>ACA402373183LOXHD1c.1373A>T (p.Glu458Val)
c.1085A>T (p.Glu362Val)
c.4706A>T (p.Glu1569Val)
n.4019A>T
c.4088A>T (p.Glu1363Val)
c.1505A>T (p.Glu502Val)
c.2867A>T (p.Glu956Val)
c.1370A>T (p.Glu457Val)
c.3188A>T (p.Glu1063Val)
18g.46524742T>CCA402373184LOXHD1c.1373A>G (p.Glu458Gly)
c.1085A>G (p.Glu362Gly)
c.4706A>G (p.Glu1569Gly)
n.4019A>G
c.4088A>G (p.Glu1363Gly)
c.1505A>G (p.Glu502Gly)
c.2867A>G (p.Glu956Gly)
c.1370A>G (p.Glu457Gly)
c.3188A>G (p.Glu1063Gly)
18g.46524742T>GCA402373185LOXHD1c.1373A>C (p.Glu458Ala)
c.1085A>C (p.Glu362Ala)
c.4706A>C (p.Glu1569Ala)
n.4019A>C
c.4088A>C (p.Glu1363Ala)
c.1505A>C (p.Glu502Ala)
c.2867A>C (p.Glu956Ala)
c.1370A>C (p.Glu457Ala)
c.3188A>C (p.Glu1063Ala)
18g.46524743C>ACA402373186LOXHD1c.1372G>T (p.Glu458Ter)
c.1084G>T (p.Glu362Ter)
c.4705G>T (p.Glu1569Ter)
n.4018G>T
c.4087G>T (p.Glu1363Ter)
c.1504G>T (p.Glu502Ter)
c.2866G>T (p.Glu956Ter)
c.1369G>T (p.Glu457Ter)
c.3187G>T (p.Glu1063Ter)
18g.46524743C>GCA402373187LOXHD1c.1372G>C (p.Glu458Gln)
c.1084G>C (p.Glu362Gln)
c.4705G>C (p.Glu1569Gln)
n.4018G>C
c.4087G>C (p.Glu1363Gln)
c.1504G>C (p.Glu502Gln)
c.2866G>C (p.Glu956Gln)
c.1369G>C (p.Glu457Gln)
c.3187G>C (p.Glu1063Gln)
18g.46524743C>TCA402373188LOXHD1c.1372G>A (p.Glu458Lys)
c.1084G>A (p.Glu362Lys)
c.4705G>A (p.Glu1569Lys)
n.4018G>A
c.4087G>A (p.Glu1363Lys)
c.1504G>A (p.Glu502Lys)
c.2866G>A (p.Glu956Lys)
c.1369G>A (p.Glu457Lys)
c.3187G>A (p.Glu1063Lys)
18g.46524743_46524746delinsCCTTCA2300872204LOXHD1c.1369_1372delinsAAGG (p.Lys457=)
c.1081_1084delinsAAGG (p.Lys361=)
c.4702_4705delinsAAGG (p.Lys1568=)
n.4015_4018delinsAAGG
c.4084_4087delinsAAGG (p.Lys1362=)
c.1501_1504delinsAAGG (p.Lys501=)
c.2863_2866delinsAAGG (p.Lys955=)
c.1366_1369delinsAAGG (p.Lys456=)
c.3184_3187delinsAAGG (p.Lys1062=)
18g.46524744C>ACA402373189LOXHD1c.1371G>T (p.Lys457Asn)
c.1083G>T (p.Lys361Asn)
c.4704G>T (p.Lys1568Asn)
n.4017G>T
c.4086G>T (p.Lys1362Asn)
c.1503G>T (p.Lys501Asn)
c.2865G>T (p.Lys955Asn)
c.1368G>T (p.Lys456Asn)
c.3186G>T (p.Lys1062Asn)
 gnomAD v4
18g.46524744C=CA2300872205LOXHD1c.1371G= (p.Lys457=)
c.1083G= (p.Lys361=)
c.4704G= (p.Lys1568=)
n.4017G=
c.4086G= (p.Lys1362=)
c.1503G= (p.Lys501=)
c.2865G= (p.Lys955=)
c.1368G= (p.Lys456=)
c.3186G= (p.Lys1062=)
18g.46524744C>GCA402373190LOXHD1c.1371G>C (p.Lys457Asn)
c.1083G>C (p.Lys361Asn)
c.4704G>C (p.Lys1568Asn)
n.4017G>C
c.4086G>C (p.Lys1362Asn)
c.1503G>C (p.Lys501Asn)
c.2865G>C (p.Lys955Asn)
c.1368G>C (p.Lys456Asn)
c.3186G>C (p.Lys1062Asn)
18g.46524744C>TCA503809420LOXHD1c.1371G>A (p.Lys457=)
c.1083G>A (p.Lys361=)
c.4704G>A (p.Lys1568=)
n.4017G>A
c.4086G>A (p.Lys1362=)
c.1503G>A (p.Lys501=)
c.2865G>A (p.Lys955=)
c.1368G>A (p.Lys456=)
c.3186G>A (p.Lys1062=)
 ClinVar dbSNP
18g.46524748_46524750delCA779800946LOXHD1c.1369_1371del (p.Lys457del)
c.1081_1083del (p.Lys361del)
c.4702_4704del (p.Lys1568del)
n.4015_4017del
c.4084_4086del (p.Lys1362del)
c.1501_1503del (p.Lys501del)
c.2863_2865del (p.Lys955del)
c.1366_1368del (p.Lys456del)
c.3184_3186del (p.Lys1062del)
 dbSNP gnomAD v3 gnomAD v4
18g.46524745T>ACA402373192LOXHD1c.1370A>T (p.Lys457Met)
c.1082A>T (p.Lys361Met)
c.4703A>T (p.Lys1568Met)
n.4016A>T
c.4085A>T (p.Lys1362Met)
c.1502A>T (p.Lys501Met)
c.2864A>T (p.Lys955Met)
c.1367A>T (p.Lys456Met)
c.3185A>T (p.Lys1062Met)
18g.46524745T>CCA402373193LOXHD1c.1370A>G (p.Lys457Arg)
c.1082A>G (p.Lys361Arg)
c.4703A>G (p.Lys1568Arg)
n.4016A>G
c.4085A>G (p.Lys1362Arg)
c.1502A>G (p.Lys501Arg)
c.2864A>G (p.Lys955Arg)
c.1367A>G (p.Lys456Arg)
c.3185A>G (p.Lys1062Arg)
18g.46524745T>GCA402373191LOXHD1c.1370A>C (p.Lys457Thr)
c.1082A>C (p.Lys361Thr)
c.4703A>C (p.Lys1568Thr)
n.4016A>C
c.4085A>C (p.Lys1362Thr)
c.1502A>C (p.Lys501Thr)
c.2864A>C (p.Lys955Thr)
c.1367A>C (p.Lys456Thr)
c.3185A>C (p.Lys1062Thr)
18g.46524746T>ACA402373194LOXHD1c.1369A>T (p.Lys457Ter)
c.1081A>T (p.Lys361Ter)
c.4702A>T (p.Lys1568Ter)
n.4015A>T
c.4084A>T (p.Lys1362Ter)
c.1501A>T (p.Lys501Ter)
c.2863A>T (p.Lys955Ter)
c.1366A>T (p.Lys456Ter)
c.3184A>T (p.Lys1062Ter)
18g.46524746T>CCA402373195LOXHD1c.1369A>G (p.Lys457Glu)
c.1081A>G (p.Lys361Glu)
c.4702A>G (p.Lys1568Glu)
n.4015A>G
c.4084A>G (p.Lys1362Glu)
c.1501A>G (p.Lys501Glu)
c.2863A>G (p.Lys955Glu)
c.1366A>G (p.Lys456Glu)
c.3184A>G (p.Lys1062Glu)
 dbSNP gnomAD v3 gnomAD v4
18g.46524746T>GCA402373196LOXHD1c.1369A>C (p.Lys457Gln)
c.1081A>C (p.Lys361Gln)
c.4702A>C (p.Lys1568Gln)
n.4015A>C
c.4084A>C (p.Lys1362Gln)
c.1501A>C (p.Lys501Gln)
c.2863A>C (p.Lys955Gln)
c.1366A>C (p.Lys456Gln)
c.3184A>C (p.Lys1062Gln)
18g.46524746T=CA2300872206LOXHD1c.1369A= (p.Lys457=)
c.1081A= (p.Lys361=)
c.4702A= (p.Lys1568=)
n.4015A=
c.4084A= (p.Lys1362=)
c.1501A= (p.Lys501=)
c.2863A= (p.Lys955=)
c.1366A= (p.Lys456=)
c.3184A= (p.Lys1062=)
18g.46524747C>ACA402373197LOXHD1c.1368G>T (p.Lys456Asn)
c.1080G>T (p.Lys360Asn)
c.4701G>T (p.Lys1567Asn)
n.4014G>T
c.4083G>T (p.Lys1361Asn)
c.1500G>T (p.Lys500Asn)
c.2862G>T (p.Lys954Asn)
c.1365G>T (p.Lys455Asn)
c.3183G>T (p.Lys1061Asn)
18g.46524747C=CA2300872207LOXHD1c.1368G= (p.Lys456=)
c.1080G= (p.Lys360=)
c.4701G= (p.Lys1567=)
n.4014G=
c.4083G= (p.Lys1361=)
c.1500G= (p.Lys500=)
c.2862G= (p.Lys954=)
c.1365G= (p.Lys455=)
c.3183G= (p.Lys1061=)
18g.46524747C>GCA402373198LOXHD1c.1368G>C (p.Lys456Asn)
c.1080G>C (p.Lys360Asn)
c.4701G>C (p.Lys1567Asn)
n.4014G>C
c.4083G>C (p.Lys1361Asn)
c.1500G>C (p.Lys500Asn)
c.2862G>C (p.Lys954Asn)
c.1365G>C (p.Lys455Asn)
c.3183G>C (p.Lys1061Asn)
18g.46524747C>TCA503809421LOXHD1c.1368G>A (p.Lys456=)
c.1080G>A (p.Lys360=)
c.4701G>A (p.Lys1567=)
n.4014G>A
c.4083G>A (p.Lys1361=)
c.1500G>A (p.Lys500=)
c.2862G>A (p.Lys954=)
c.1365G>A (p.Lys455=)
c.3183G>A (p.Lys1061=)
 dbSNP gnomAD v3 gnomAD v4
18g.46524748T>ACA402373199LOXHD1c.1367A>T (p.Lys456Met)
c.1079A>T (p.Lys360Met)
c.4700A>T (p.Lys1567Met)
n.4013A>T
c.4082A>T (p.Lys1361Met)
c.1499A>T (p.Lys500Met)
c.2861A>T (p.Lys954Met)
c.1364A>T (p.Lys455Met)
c.3182A>T (p.Lys1061Met)
18g.46524748T>CCA402373200LOXHD1c.1367A>G (p.Lys456Arg)
c.1079A>G (p.Lys360Arg)
c.4700A>G (p.Lys1567Arg)
n.4013A>G
c.4082A>G (p.Lys1361Arg)
c.1499A>G (p.Lys500Arg)
c.2861A>G (p.Lys954Arg)
c.1364A>G (p.Lys455Arg)
c.3182A>G (p.Lys1061Arg)
18g.46524748T>GCA402373201LOXHD1c.1367A>C (p.Lys456Thr)
c.1079A>C (p.Lys360Thr)
c.4700A>C (p.Lys1567Thr)
n.4013A>C
c.4082A>C (p.Lys1361Thr)
c.1499A>C (p.Lys500Thr)
c.2861A>C (p.Lys954Thr)
c.1364A>C (p.Lys455Thr)
c.3182A>C (p.Lys1061Thr)
18g.46524749T>ACA402373202LOXHD1c.1366A>T (p.Lys456Ter)
c.1078A>T (p.Lys360Ter)
c.4699A>T (p.Lys1567Ter)
n.4012A>T
c.4081A>T (p.Lys1361Ter)
c.1498A>T (p.Lys500Ter)
c.2860A>T (p.Lys954Ter)
c.1363A>T (p.Lys455Ter)
c.3181A>T (p.Lys1061Ter)
18g.46524749T>CCA402373203LOXHD1c.1366A>G (p.Lys456Glu)
c.1078A>G (p.Lys360Glu)
c.4699A>G (p.Lys1567Glu)
n.4012A>G
c.4081A>G (p.Lys1361Glu)
c.1498A>G (p.Lys500Glu)
c.2860A>G (p.Lys954Glu)
c.1363A>G (p.Lys455Glu)
c.3181A>G (p.Lys1061Glu)
18g.46524749T>GCA402373204LOXHD1c.1366A>C (p.Lys456Gln)
c.1078A>C (p.Lys360Gln)
c.4699A>C (p.Lys1567Gln)
n.4012A>C
c.4081A>C (p.Lys1361Gln)
c.1498A>C (p.Lys500Gln)
c.2860A>C (p.Lys954Gln)
c.1363A>C (p.Lys455Gln)
c.3181A>C (p.Lys1061Gln)
18g.46524750C>ACA503809422LOXHD1c.1365G>T (p.Leu455=)
c.1077G>T (p.Leu359=)
c.4698G>T (p.Leu1566=)
n.4011G>T
c.4080G>T (p.Leu1360=)
c.1497G>T (p.Leu499=)
c.2859G>T (p.Leu953=)
c.1362G>T (p.Leu454=)
c.3180G>T (p.Leu1060=)
18g.46524750C>GCA503809424LOXHD1c.1365G>C (p.Leu455=)
c.1077G>C (p.Leu359=)
c.4698G>C (p.Leu1566=)
n.4011G>C
c.4080G>C (p.Leu1360=)
c.1497G>C (p.Leu499=)
c.2859G>C (p.Leu953=)
c.1362G>C (p.Leu454=)
c.3180G>C (p.Leu1060=)
18g.46524750C>TCA503809423LOXHD1c.1365G>A (p.Leu455=)
c.1077G>A (p.Leu359=)
c.4698G>A (p.Leu1566=)
n.4011G>A
c.4080G>A (p.Leu1360=)
c.1497G>A (p.Leu499=)
c.2859G>A (p.Leu953=)
c.1362G>A (p.Leu454=)
c.3180G>A (p.Leu1060=)
 ClinVar
18g.46524751A>CCA402373205LOXHD1c.1364T>G (p.Leu455Arg)
c.1076T>G (p.Leu359Arg)
c.4697T>G (p.Leu1566Arg)
n.4010T>G
c.4079T>G (p.Leu1360Arg)
c.1496T>G (p.Leu499Arg)
c.2858T>G (p.Leu953Arg)
c.1361T>G (p.Leu454Arg)
c.3179T>G (p.Leu1060Arg)
18g.46524751A>GCA402373206LOXHD1c.1364T>C (p.Leu455Pro)
c.1076T>C (p.Leu359Pro)
c.4697T>C (p.Leu1566Pro)
n.4010T>C
c.4079T>C (p.Leu1360Pro)
c.1496T>C (p.Leu499Pro)
c.2858T>C (p.Leu953Pro)
c.1361T>C (p.Leu454Pro)
c.3179T>C (p.Leu1060Pro)
18g.46524751A>TCA402373207LOXHD1c.1364T>A (p.Leu455Gln)
c.1076T>A (p.Leu359Gln)
c.4697T>A (p.Leu1566Gln)
n.4010T>A
c.4079T>A (p.Leu1360Gln)
c.1496T>A (p.Leu499Gln)
c.2858T>A (p.Leu953Gln)
c.1361T>A (p.Leu454Gln)
c.3179T>A (p.Leu1060Gln)
18g.46524752G>ACA503809425LOXHD1c.1363C>T (p.Leu455=)
c.1075C>T (p.Leu359=)
c.4696C>T (p.Leu1566=)
n.4009C>T
c.4078C>T (p.Leu1360=)
c.1495C>T (p.Leu499=)
c.2857C>T (p.Leu953=)
c.1360C>T (p.Leu454=)
c.3178C>T (p.Leu1060=)
18g.46524752G>CCA402373208LOXHD1c.1363C>G (p.Leu455Val)
c.1075C>G (p.Leu359Val)
c.4696C>G (p.Leu1566Val)
n.4009C>G
c.4078C>G (p.Leu1360Val)
c.1495C>G (p.Leu499Val)
c.2857C>G (p.Leu953Val)
c.1360C>G (p.Leu454Val)
c.3178C>G (p.Leu1060Val)
18g.46524752G>TCA402373209LOXHD1c.1363C>A (p.Leu455Met)
c.1075C>A (p.Leu359Met)
c.4696C>A (p.Leu1566Met)
n.4009C>A
c.4078C>A (p.Leu1360Met)
c.1495C>A (p.Leu499Met)
c.2857C>A (p.Leu953Met)
c.1360C>A (p.Leu454Met)
c.3178C>A (p.Leu1060Met)
18g.46524753G>ACA503809426LOXHD1c.1362C>T (p.Ser454=)
c.1074C>T (p.Ser358=)
c.4695C>T (p.Ser1565=)
n.4008C>T
c.4077C>T (p.Ser1359=)
c.1494C>T (p.Ser498=)
c.2856C>T (p.Ser952=)
c.1359C>T (p.Ser453=)
c.3177C>T (p.Ser1059=)
18g.46524753G>CCA503809427LOXHD1c.1362C>G (p.Ser454=)
c.1074C>G (p.Ser358=)
c.4695C>G (p.Ser1565=)
n.4008C>G
c.4077C>G (p.Ser1359=)
c.1494C>G (p.Ser498=)
c.2856C>G (p.Ser952=)
c.1359C>G (p.Ser453=)
c.3177C>G (p.Ser1059=)
18g.46524753G>TCA503809428LOXHD1c.1362C>A (p.Ser454=)
c.1074C>A (p.Ser358=)
c.4695C>A (p.Ser1565=)
n.4008C>A
c.4077C>A (p.Ser1359=)
c.1494C>A (p.Ser498=)
c.2856C>A (p.Ser952=)
c.1359C>A (p.Ser453=)
c.3177C>A (p.Ser1059=)
18g.46524754G>ACA402373210LOXHD1c.1361C>T (p.Ser454Phe)
c.1073C>T (p.Ser358Phe)
c.4694C>T (p.Ser1565Phe)
n.4007C>T
c.4076C>T (p.Ser1359Phe)
c.1493C>T (p.Ser498Phe)
c.2855C>T (p.Ser952Phe)
c.1358C>T (p.Ser453Phe)
c.3176C>T (p.Ser1059Phe)
18g.46524754G>CCA402373211LOXHD1c.1361C>G (p.Ser454Cys)
c.1073C>G (p.Ser358Cys)
c.4694C>G (p.Ser1565Cys)
n.4007C>G
c.4076C>G (p.Ser1359Cys)
c.1493C>G (p.Ser498Cys)
c.2855C>G (p.Ser952Cys)
c.1358C>G (p.Ser453Cys)
c.3176C>G (p.Ser1059Cys)
18g.46524754G>TCA402373212LOXHD1c.1361C>A (p.Ser454Tyr)
c.1073C>A (p.Ser358Tyr)
c.4694C>A (p.Ser1565Tyr)
n.4007C>A
c.4076C>A (p.Ser1359Tyr)
c.1493C>A (p.Ser498Tyr)
c.2855C>A (p.Ser952Tyr)
c.1358C>A (p.Ser453Tyr)
c.3176C>A (p.Ser1059Tyr)
 gnomAD v4
18g.46524755A>CCA402373213LOXHD1c.1360T>G (p.Ser454Ala)
c.1072T>G (p.Ser358Ala)
c.4693T>G (p.Ser1565Ala)
n.4006T>G
c.4075T>G (p.Ser1359Ala)
c.1492T>G (p.Ser498Ala)
c.2854T>G (p.Ser952Ala)
c.1357T>G (p.Ser453Ala)
c.3175T>G (p.Ser1059Ala)
18g.46524755A>GCA402373214LOXHD1c.1360T>C (p.Ser454Pro)
c.1072T>C (p.Ser358Pro)
c.4693T>C (p.Ser1565Pro)
n.4006T>C
c.4075T>C (p.Ser1359Pro)
c.1492T>C (p.Ser498Pro)
c.2854T>C (p.Ser952Pro)
c.1357T>C (p.Ser453Pro)
c.3175T>C (p.Ser1059Pro)
18g.46524755A>TCA402373215LOXHD1c.1360T>A (p.Ser454Thr)
c.1072T>A (p.Ser358Thr)
c.4693T>A (p.Ser1565Thr)
n.4006T>A
c.4075T>A (p.Ser1359Thr)
c.1492T>A (p.Ser498Thr)
c.2854T>A (p.Ser952Thr)
c.1357T>A (p.Ser453Thr)
c.3175T>A (p.Ser1059Thr)
18g.46524756G>ACA503809429LOXHD1c.1359C>T (p.Leu453=)
c.1071C>T (p.Leu357=)
c.4692C>T (p.Leu1564=)
n.4005C>T
c.4074C>T (p.Leu1358=)
c.1491C>T (p.Leu497=)
c.2853C>T (p.Leu951=)
c.1356C>T (p.Leu452=)
c.3174C>T (p.Leu1058=)
 dbSNP gnomAD v2 gnomAD v4
18g.46524756G>CCA503809431LOXHD1c.1359C>G (p.Leu453=)
c.1071C>G (p.Leu357=)
c.4692C>G (p.Leu1564=)
n.4005C>G
c.4074C>G (p.Leu1358=)
c.1491C>G (p.Leu497=)
c.2853C>G (p.Leu951=)
c.1356C>G (p.Leu452=)
c.3174C>G (p.Leu1058=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.46524756G=CA2300872208LOXHD1c.1359C= (p.Leu453=)
c.1071C= (p.Leu357=)
c.4692C= (p.Leu1564=)
n.4005C=
c.4074C= (p.Leu1358=)
c.1491C= (p.Leu497=)
c.2853C= (p.Leu951=)
c.1356C= (p.Leu452=)
c.3174C= (p.Leu1058=)
18g.46524756G>TCA503809430LOXHD1c.1359C>A (p.Leu453=)
c.1071C>A (p.Leu357=)
c.4692C>A (p.Leu1564=)
n.4005C>A
c.4074C>A (p.Leu1358=)
c.1491C>A (p.Leu497=)
c.2853C>A (p.Leu951=)
c.1356C>A (p.Leu452=)
c.3174C>A (p.Leu1058=)
 dbSNP
18g.46524757A=CA2300872209LOXHD1c.1358T= (p.Leu453=)
c.1070T= (p.Leu357=)
c.4691T= (p.Leu1564=)
n.4004T=
c.4073T= (p.Leu1358=)
c.1490T= (p.Leu497=)
c.2852T= (p.Leu951=)
c.1355T= (p.Leu452=)
c.3173T= (p.Leu1058=)
18g.46524757A>CCA402373216LOXHD1c.1358T>G (p.Leu453Arg)
c.1070T>G (p.Leu357Arg)
c.4691T>G (p.Leu1564Arg)
n.4004T>G
c.4073T>G (p.Leu1358Arg)
c.1490T>G (p.Leu497Arg)
c.2852T>G (p.Leu951Arg)
c.1355T>G (p.Leu452Arg)
c.3173T>G (p.Leu1058Arg)
18g.46524757A>GCA402373217LOXHD1c.1358T>C (p.Leu453Pro)
c.1070T>C (p.Leu357Pro)
c.4691T>C (p.Leu1564Pro)
n.4004T>C
c.4073T>C (p.Leu1358Pro)
c.1490T>C (p.Leu497Pro)
c.2852T>C (p.Leu951Pro)
c.1355T>C (p.Leu452Pro)
c.3173T>C (p.Leu1058Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.46524757A>TCA402373218LOXHD1c.1358T>A (p.Leu453His)
c.1070T>A (p.Leu357His)
c.4691T>A (p.Leu1564His)
n.4004T>A
c.4073T>A (p.Leu1358His)
c.1490T>A (p.Leu497His)
c.2852T>A (p.Leu951His)
c.1355T>A (p.Leu452His)
c.3173T>A (p.Leu1058His)
18g.46524758G>ACA8952310LOXHD1c.1357C>T (p.Leu453Phe)
c.1069C>T (p.Leu357Phe)
c.4690C>T (p.Leu1564Phe)
n.4003C>T
c.4072C>T (p.Leu1358Phe)
c.1489C>T (p.Leu497Phe)
c.2851C>T (p.Leu951Phe)
c.1354C>T (p.Leu452Phe)
c.3172C>T (p.Leu1058Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.46524758G>CCA402373219LOXHD1c.1357C>G (p.Leu453Val)
c.1069C>G (p.Leu357Val)
c.4690C>G (p.Leu1564Val)
n.4003C>G
c.4072C>G (p.Leu1358Val)
c.1489C>G (p.Leu497Val)
c.2851C>G (p.Leu951Val)
c.1354C>G (p.Leu452Val)
c.3172C>G (p.Leu1058Val)
 gnomAD v4
18g.46524758G=CA2300872210LOXHD1c.1357C= (p.Leu453=)
c.1069C= (p.Leu357=)
c.4690C= (p.Leu1564=)
n.4003C=
c.4072C= (p.Leu1358=)
c.1489C= (p.Leu497=)
c.2851C= (p.Leu951=)
c.1354C= (p.Leu452=)
c.3172C= (p.Leu1058=)
18g.46524758G>TCA402373220LOXHD1c.1357C>A (p.Leu453Ile)
c.1069C>A (p.Leu357Ile)
c.4690C>A (p.Leu1564Ile)
n.4003C>A
c.4072C>A (p.Leu1358Ile)
c.1489C>A (p.Leu497Ile)
c.2851C>A (p.Leu951Ile)
c.1354C>A (p.Leu452Ile)
c.3172C>A (p.Leu1058Ile)
 dbSNP gnomAD v2 gnomAD v4
18g.46524759C>ACA402373223LOXHD1c.1356G>T (p.Trp452Cys)
c.1068G>T (p.Trp356Cys)
c.4689G>T (p.Trp1563Cys)
n.4002G>T
c.4071G>T (p.Trp1357Cys)
c.1488G>T (p.Trp496Cys)
c.2850G>T (p.Trp950Cys)
c.1353G>T (p.Trp451Cys)
c.3171G>T (p.Trp1057Cys)
18g.46524759C=CA2300872211LOXHD1c.1356G= (p.Trp452=)
c.1068G= (p.Trp356=)
c.4689G= (p.Trp1563=)
n.4002G=
c.4071G= (p.Trp1357=)
c.1488G= (p.Trp496=)
c.2850G= (p.Trp950=)
c.1353G= (p.Trp451=)
c.3171G= (p.Trp1057=)
18g.46524759C>GCA402373222LOXHD1c.1356G>C (p.Trp452Cys)
c.1068G>C (p.Trp356Cys)
c.4689G>C (p.Trp1563Cys)
n.4002G>C
c.4071G>C (p.Trp1357Cys)
c.1488G>C (p.Trp496Cys)
c.2850G>C (p.Trp950Cys)
c.1353G>C (p.Trp451Cys)
c.3171G>C (p.Trp1057Cys)
 dbSNP
18g.46524759C>TCA402373221LOXHD1c.1356G>A (p.Trp452Ter)
c.1068G>A (p.Trp356Ter)
c.4689G>A (p.Trp1563Ter)
n.4002G>A
c.4071G>A (p.Trp1357Ter)
c.1488G>A (p.Trp496Ter)
c.2850G>A (p.Trp950Ter)
c.1353G>A (p.Trp451Ter)
c.3171G>A (p.Trp1057Ter)
 dbSNP gnomAD v4
18g.46524760C>ACA402373224LOXHD1c.1355G>T (p.Trp452Leu)
c.1067G>T (p.Trp356Leu)
c.4688G>T (p.Trp1563Leu)
n.4001G>T
c.4070G>T (p.Trp1357Leu)
c.1487G>T (p.Trp496Leu)
c.2849G>T (p.Trp950Leu)
c.1352G>T (p.Trp451Leu)
c.3170G>T (p.Trp1057Leu)
18g.46524760C>GCA402373226LOXHD1c.1355G>C (p.Trp452Ser)
c.1067G>C (p.Trp356Ser)
c.4688G>C (p.Trp1563Ser)
n.4001G>C
c.4070G>C (p.Trp1357Ser)
c.1487G>C (p.Trp496Ser)
c.2849G>C (p.Trp950Ser)
c.1352G>C (p.Trp451Ser)
c.3170G>C (p.Trp1057Ser)
18g.46524760C>TCA402373225LOXHD1c.1355G>A (p.Trp452Ter)
c.1067G>A (p.Trp356Ter)
c.4688G>A (p.Trp1563Ter)
n.4001G>A
c.4070G>A (p.Trp1357Ter)
c.1487G>A (p.Trp496Ter)
c.2849G>A (p.Trp950Ter)
c.1352G>A (p.Trp451Ter)
c.3170G>A (p.Trp1057Ter)
18g.46524761A>CCA402373227LOXHD1c.1354T>G (p.Trp452Gly)
c.1066T>G (p.Trp356Gly)
c.4687T>G (p.Trp1563Gly)
n.4000T>G
c.4069T>G (p.Trp1357Gly)
c.1486T>G (p.Trp496Gly)
c.2848T>G (p.Trp950Gly)
c.1351T>G (p.Trp451Gly)
c.3169T>G (p.Trp1057Gly)
18g.46524761A>GCA402373229LOXHD1c.1354T>C (p.Trp452Arg)
c.1066T>C (p.Trp356Arg)
c.4687T>C (p.Trp1563Arg)
n.4000T>C
c.4069T>C (p.Trp1357Arg)
c.1486T>C (p.Trp496Arg)
c.2848T>C (p.Trp950Arg)
c.1351T>C (p.Trp451Arg)
c.3169T>C (p.Trp1057Arg)
18g.46524761A>TCA402373228LOXHD1c.1354T>A (p.Trp452Arg)
c.1066T>A (p.Trp356Arg)
c.4687T>A (p.Trp1563Arg)
n.4000T>A
c.4069T>A (p.Trp1357Arg)
c.1486T>A (p.Trp496Arg)
c.2848T>A (p.Trp950Arg)
c.1351T>A (p.Trp451Arg)
c.3169T>A (p.Trp1057Arg)
18g.46524762G>ACA8952311LOXHD1c.1353C>T (p.Arg451=)
c.1065C>T (p.Arg355=)
c.4686C>T (p.Arg1562=)
n.3999C>T
c.4068C>T (p.Arg1356=)
c.1485C>T (p.Arg495=)
c.2847C>T (p.Arg949=)
c.1350C>T (p.Arg450=)
c.3168C>T (p.Arg1056=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.46524762G>CCA503809432LOXHD1c.1353C>G (p.Arg451=)
c.1065C>G (p.Arg355=)
c.4686C>G (p.Arg1562=)
n.3999C>G
c.4068C>G (p.Arg1356=)
c.1485C>G (p.Arg495=)
c.2847C>G (p.Arg949=)
c.1350C>G (p.Arg450=)
c.3168C>G (p.Arg1056=)
18g.46524762G=CA2300872212LOXHD1c.1353C= (p.Arg451=)
c.1065C= (p.Arg355=)
c.4686C= (p.Arg1562=)
n.3999C=
c.4068C= (p.Arg1356=)
c.1485C= (p.Arg495=)
c.2847C= (p.Arg949=)
c.1350C= (p.Arg450=)
c.3168C= (p.Arg1056=)
18g.46524762G>TCA503809433LOXHD1c.1353C>A (p.Arg451=)
c.1065C>A (p.Arg355=)
c.4686C>A (p.Arg1562=)
n.3999C>A
c.4068C>A (p.Arg1356=)
c.1485C>A (p.Arg495=)
c.2847C>A (p.Arg949=)
c.1350C>A (p.Arg450=)
c.3168C>A (p.Arg1056=)
 dbSNP
18g.46524763C>ACA402373230LOXHD1c.1352G>T (p.Arg451Leu)
c.1064G>T (p.Arg355Leu)
c.4685G>T (p.Arg1562Leu)
n.3998G>T
c.4067G>T (p.Arg1356Leu)
c.1484G>T (p.Arg495Leu)
c.2846G>T (p.Arg949Leu)
c.1349G>T (p.Arg450Leu)
c.3167G>T (p.Arg1056Leu)
18g.46524763C=CA2300872213LOXHD1c.1352G= (p.Arg451=)
c.1064G= (p.Arg355=)
c.4685G= (p.Arg1562=)
n.3998G=
c.4067G= (p.Arg1356=)
c.1484G= (p.Arg495=)
c.2846G= (p.Arg949=)
c.1349G= (p.Arg450=)
c.3167G= (p.Arg1056=)
18g.46524763C>GCA402373231LOXHD1c.1352G>C (p.Arg451Pro)
c.1064G>C (p.Arg355Pro)
c.4685G>C (p.Arg1562Pro)
n.3998G>C
c.4067G>C (p.Arg1356Pro)
c.1484G>C (p.Arg495Pro)
c.2846G>C (p.Arg949Pro)
c.1349G>C (p.Arg450Pro)
c.3167G>C (p.Arg1056Pro)
18g.46524763C>TCA402373232LOXHD1c.1352G>A (p.Arg451His)
c.1064G>A (p.Arg355His)
c.4685G>A (p.Arg1562His)
n.3998G>A
c.4067G>A (p.Arg1356His)
c.1484G>A (p.Arg495His)
c.2846G>A (p.Arg949His)
c.1349G>A (p.Arg450His)
c.3167G>A (p.Arg1056His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.46524764G>ACA299801819LOXHD1c.1351C>T (p.Arg451Cys)
c.1063C>T (p.Arg355Cys)
c.4684C>T (p.Arg1562Cys)
n.3997C>T
c.4066C>T (p.Arg1356Cys)
c.1483C>T (p.Arg495Cys)
c.2845C>T (p.Arg949Cys)
c.1348C>T (p.Arg450Cys)
c.3166C>T (p.Arg1056Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.46524764G>CCA402373233LOXHD1c.1351C>G (p.Arg451Gly)
c.1063C>G (p.Arg355Gly)
c.4684C>G (p.Arg1562Gly)
n.3997C>G
c.4066C>G (p.Arg1356Gly)
c.1483C>G (p.Arg495Gly)
c.2845C>G (p.Arg949Gly)
c.1348C>G (p.Arg450Gly)
c.3166C>G (p.Arg1056Gly)
18g.46524764G=CA2300872214LOXHD1c.1351C= (p.Arg451=)
c.1063C= (p.Arg355=)
c.4684C= (p.Arg1562=)
n.3997C=
c.4066C= (p.Arg1356=)
c.1483C= (p.Arg495=)
c.2845C= (p.Arg949=)
c.1348C= (p.Arg450=)
c.3166C= (p.Arg1056=)
18g.46524764G>TCA402373234LOXHD1c.1351C>A (p.Arg451Ser)
c.1063C>A (p.Arg355Ser)
c.4684C>A (p.Arg1562Ser)
n.3997C>A
c.4066C>A (p.Arg1356Ser)
c.1483C>A (p.Arg495Ser)
c.2845C>A (p.Arg949Ser)
c.1348C>A (p.Arg450Ser)
c.3166C>A (p.Arg1056Ser)
 dbSNP gnomAD v4
18g.46524765C>ACA503809436LOXHD1c.1350G>T (p.Gly450=)
c.1062G>T (p.Gly354=)
c.4683G>T (p.Gly1561=)
n.3996G>T
c.4065G>T (p.Gly1355=)
c.1482G>T (p.Gly494=)
c.2844G>T (p.Gly948=)
c.1347G>T (p.Gly449=)
c.3165G>T (p.Gly1055=)
18g.46524765C>GCA503809434LOXHD1c.1350G>C (p.Gly450=)
c.1062G>C (p.Gly354=)
c.4683G>C (p.Gly1561=)
n.3996G>C
c.4065G>C (p.Gly1355=)
c.1482G>C (p.Gly494=)
c.2844G>C (p.Gly948=)
c.1347G>C (p.Gly449=)
c.3165G>C (p.Gly1055=)
18g.46524765C>TCA503809435LOXHD1c.1350G>A (p.Gly450=)
c.1062G>A (p.Gly354=)
c.4683G>A (p.Gly1561=)
n.3996G>A
c.4065G>A (p.Gly1355=)
c.1482G>A (p.Gly494=)
c.2844G>A (p.Gly948=)
c.1347G>A (p.Gly449=)
c.3165G>A (p.Gly1055=)
 gnomAD v4
18g.46524767dupCA658824185LOXHD1c.1350dup (p.Arg451AlafsTer?)
c.1062dup (p.Arg355AlafsTer?)
c.4683dup (p.Arg1562AlafsTer?)
n.3996dup
c.4065dup (p.Arg1356AlafsTer?)
c.1482dup (p.Arg495AlafsTer?)
c.2844dup (p.Arg949AlafsTer?)
c.1347dup (p.Arg450AlafsTer?)
c.3165dup (p.Arg1056AlafsTer?)
 ClinVar dbSNP
18g.46524766C>ACA402373235LOXHD1c.1349G>T (p.Gly450Val)
c.1061G>T (p.Gly354Val)
c.4682G>T (p.Gly1561Val)
n.3995G>T
c.4064G>T (p.Gly1355Val)
c.1481G>T (p.Gly494Val)
c.2843G>T (p.Gly948Val)
c.1346G>T (p.Gly449Val)
c.3164G>T (p.Gly1055Val)
18g.46524766C>GCA402373236LOXHD1c.1349G>C (p.Gly450Ala)
c.1061G>C (p.Gly354Ala)
c.4682G>C (p.Gly1561Ala)
n.3995G>C
c.4064G>C (p.Gly1355Ala)
c.1481G>C (p.Gly494Ala)
c.2843G>C (p.Gly948Ala)
c.1346G>C (p.Gly449Ala)
c.3164G>C (p.Gly1055Ala)
18g.46524766C>TCA402373237LOXHD1c.1349G>A (p.Gly450Glu)
c.1061G>A (p.Gly354Glu)
c.4682G>A (p.Gly1561Glu)
n.3995G>A
c.4064G>A (p.Gly1355Glu)
c.1481G>A (p.Gly494Glu)
c.2843G>A (p.Gly948Glu)
c.1346G>A (p.Gly449Glu)
c.3164G>A (p.Gly1055Glu)
18g.46524767C>ACA402373238LOXHD1c.1348G>T (p.Gly450Trp)
c.1060G>T (p.Gly354Trp)
c.4681G>T (p.Gly1561Trp)
n.3994G>T
c.4063G>T (p.Gly1355Trp)
c.1480G>T (p.Gly494Trp)
c.2842G>T (p.Gly948Trp)
c.1345G>T (p.Gly449Trp)
c.3163G>T (p.Gly1055Trp)
18g.46524767C=CA2300872215LOXHD1c.1348G= (p.Gly450=)
c.1060G= (p.Gly354=)
c.4681G= (p.Gly1561=)
n.3994G=
c.4063G= (p.Gly1355=)
c.1480G= (p.Gly494=)
c.2842G= (p.Gly948=)
c.1345G= (p.Gly449=)
c.3163G= (p.Gly1055=)
18g.46524767C>GCA402373239LOXHD1c.1348G>C (p.Gly450Arg)
c.1060G>C (p.Gly354Arg)
c.4681G>C (p.Gly1561Arg)
n.3994G>C
c.4063G>C (p.Gly1355Arg)
c.1480G>C (p.Gly494Arg)
c.2842G>C (p.Gly948Arg)
c.1345G>C (p.Gly449Arg)
c.3163G>C (p.Gly1055Arg)
18g.46524767C>TCA8952312LOXHD1c.1348G>A (p.Gly450Arg)
c.1060G>A (p.Gly354Arg)
c.4681G>A (p.Gly1561Arg)
n.3994G>A
c.4063G>A (p.Gly1355Arg)
c.1480G>A (p.Gly494Arg)
c.2842G>A (p.Gly948Arg)
c.1345G>A (p.Gly449Arg)
c.3163G>A (p.Gly1055Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.46524768G>ACA142224LOXHD1c.1347C>T (p.Cys449=)
c.1059C>T (p.Cys353=)
c.4680C>T (p.Cys1560=)
n.3993C>T
c.4062C>T (p.Cys1354=)
c.1479C>T (p.Cys493=)
c.2841C>T (p.Cys947=)
c.1344C>T (p.Cys448=)
c.3162C>T (p.Cys1054=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.46524768G>CCA402373241LOXHD1c.1347C>G (p.Cys449Trp)
c.1059C>G (p.Cys353Trp)
c.4680C>G (p.Cys1560Trp)
n.3993C>G
c.4062C>G (p.Cys1354Trp)
c.1479C>G (p.Cys493Trp)
c.2841C>G (p.Cys947Trp)
c.1344C>G (p.Cys448Trp)
c.3162C>G (p.Cys1054Trp)
18g.46524768G=CA2300872216LOXHD1c.1347C= (p.Cys449=)
c.1059C= (p.Cys353=)
c.4680C= (p.Cys1560=)
n.3993C=
c.4062C= (p.Cys1354=)
c.1479C= (p.Cys493=)
c.2841C= (p.Cys947=)
c.1344C= (p.Cys448=)
c.3162C= (p.Cys1054=)
18g.46524768G>TCA402373240LOXHD1c.1347C>A (p.Cys449Ter)
c.1059C>A (p.Cys353Ter)
c.4680C>A (p.Cys1560Ter)
n.3993C>A
c.4062C>A (p.Cys1354Ter)
c.1479C>A (p.Cys493Ter)
c.2841C>A (p.Cys947Ter)
c.1344C>A (p.Cys448Ter)
c.3162C>A (p.Cys1054Ter)
 dbSNP gnomAD v2 gnomAD v4
18g.46524769C>ACA402373242LOXHD1c.1346G>T (p.Cys449Phe)
c.1058G>T (p.Cys353Phe)
c.4679G>T (p.Cys1560Phe)
n.3992G>T
c.4061G>T (p.Cys1354Phe)
c.1478G>T (p.Cys493Phe)
c.2840G>T (p.Cys947Phe)
c.1343G>T (p.Cys448Phe)
c.3161G>T (p.Cys1054Phe)
18g.46524769C>GCA402373243LOXHD1c.1346G>C (p.Cys449Ser)
c.1058G>C (p.Cys353Ser)
c.4679G>C (p.Cys1560Ser)
n.3992G>C
c.4061G>C (p.Cys1354Ser)
c.1478G>C (p.Cys493Ser)
c.2840G>C (p.Cys947Ser)
c.1343G>C (p.Cys448Ser)
c.3161G>C (p.Cys1054Ser)
18g.46524769C>TCA402373244LOXHD1c.1346G>A (p.Cys449Tyr)
c.1058G>A (p.Cys353Tyr)
c.4679G>A (p.Cys1560Tyr)
n.3992G>A
c.4061G>A (p.Cys1354Tyr)
c.1478G>A (p.Cys493Tyr)
c.2840G>A (p.Cys947Tyr)
c.1343G>A (p.Cys448Tyr)
c.3161G>A (p.Cys1054Tyr)
 gnomAD v4
18g.46524770A=CA2300872217LOXHD1c.1345T= (p.Cys449=)
c.1057T= (p.Cys353=)
c.4678T= (p.Cys1560=)
n.3991T=
c.4060T= (p.Cys1354=)
c.1477T= (p.Cys493=)
c.2839T= (p.Cys947=)
c.1342T= (p.Cys448=)
c.3160T= (p.Cys1054=)
18g.46524770A>CCA402373245LOXHD1c.1345T>G (p.Cys449Gly)
c.1057T>G (p.Cys353Gly)
c.4678T>G (p.Cys1560Gly)
n.3991T>G
c.4060T>G (p.Cys1354Gly)
c.1477T>G (p.Cys493Gly)
c.2839T>G (p.Cys947Gly)
c.1342T>G (p.Cys448Gly)
c.3160T>G (p.Cys1054Gly)
18g.46524770A>GCA402373246LOXHD1c.1345T>C (p.Cys449Arg)
c.1057T>C (p.Cys353Arg)
c.4678T>C (p.Cys1560Arg)
n.3991T>C
c.4060T>C (p.Cys1354Arg)
c.1477T>C (p.Cys493Arg)
c.2839T>C (p.Cys947Arg)
c.1342T>C (p.Cys448Arg)
c.3160T>C (p.Cys1054Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.46524770A>TCA402373247LOXHD1c.1345T>A (p.Cys449Ser)
c.1057T>A (p.Cys353Ser)
c.4678T>A (p.Cys1560Ser)
n.3991T>A
c.4060T>A (p.Cys1354Ser)
c.1477T>A (p.Cys493Ser)
c.2839T>A (p.Cys947Ser)
c.1342T>A (p.Cys448Ser)
c.3160T>A (p.Cys1054Ser)
 dbSNP
18g.46524771T>ACA503809437LOXHD1c.1344A>T (p.Leu448=)
c.1056A>T (p.Leu352=)
c.4677A>T (p.Leu1559=)
n.3990A>T
c.4059A>T (p.Leu1353=)
c.1476A>T (p.Leu492=)
c.2838A>T (p.Leu946=)
c.1341A>T (p.Leu447=)
c.3159A>T (p.Leu1053=)
 dbSNP
18g.46524771T>CCA8952313LOXHD1c.1344A>G (p.Leu448=)
c.1056A>G (p.Leu352=)
c.4677A>G (p.Leu1559=)
n.3990A>G
c.4059A>G (p.Leu1353=)
c.1476A>G (p.Leu492=)
c.2838A>G (p.Leu946=)
c.1341A>G (p.Leu447=)
c.3159A>G (p.Leu1053=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.46524771T>GCA503809438LOXHD1c.1344A>C (p.Leu448=)
c.1056A>C (p.Leu352=)
c.4677A>C (p.Leu1559=)
n.3990A>C
c.4059A>C (p.Leu1353=)
c.1476A>C (p.Leu492=)
c.2838A>C (p.Leu946=)
c.1341A>C (p.Leu447=)
c.3159A>C (p.Leu1053=)
18g.46524771T=CA2300872218LOXHD1c.1344A= (p.Leu448=)
c.1056A= (p.Leu352=)
c.4677A= (p.Leu1559=)
n.3990A=
c.4059A= (p.Leu1353=)
c.1476A= (p.Leu492=)
c.2838A= (p.Leu946=)
c.1341A= (p.Leu447=)
c.3159A= (p.Leu1053=)
18g.46524772A>CCA402373248LOXHD1c.1343T>G (p.Leu448Arg)
c.1055T>G (p.Leu352Arg)
c.4676T>G (p.Leu1559Arg)
n.3989T>G
c.4058T>G (p.Leu1353Arg)
c.1475T>G (p.Leu492Arg)
c.2837T>G (p.Leu946Arg)
c.1340T>G (p.Leu447Arg)
c.3158T>G (p.Leu1053Arg)
18g.46524772A>GCA402373249LOXHD1c.1343T>C (p.Leu448Pro)
c.1055T>C (p.Leu352Pro)
c.4676T>C (p.Leu1559Pro)
n.3989T>C
c.4058T>C (p.Leu1353Pro)
c.1475T>C (p.Leu492Pro)
c.2837T>C (p.Leu946Pro)
c.1340T>C (p.Leu447Pro)
c.3158T>C (p.Leu1053Pro)
18g.46524772A>TCA402373250LOXHD1c.1343T>A (p.Leu448Gln)
c.1055T>A (p.Leu352Gln)
c.4676T>A (p.Leu1559Gln)
n.3989T>A
c.4058T>A (p.Leu1353Gln)
c.1475T>A (p.Leu492Gln)
c.2837T>A (p.Leu946Gln)
c.1340T>A (p.Leu447Gln)
c.3158T>A (p.Leu1053Gln)
18g.46524773G>ACA503809439LOXHD1c.1342C>T (p.Leu448=)
c.1054C>T (p.Leu352=)
c.4675C>T (p.Leu1559=)
n.3988C>T
c.4057C>T (p.Leu1353=)
c.1474C>T (p.Leu492=)
c.2836C>T (p.Leu946=)
c.1339C>T (p.Leu447=)
c.3157C>T (p.Leu1053=)
18g.46524773G>CCA299801828LOXHD1c.1342C>G (p.Leu448Val)
c.1054C>G (p.Leu352Val)
c.4675C>G (p.Leu1559Val)
n.3988C>G
c.4057C>G (p.Leu1353Val)
c.1474C>G (p.Leu492Val)
c.2836C>G (p.Leu946Val)
c.1339C>G (p.Leu447Val)
c.3157C>G (p.Leu1053Val)
 dbSNP
18g.46524773G=CA2300872219LOXHD1c.1342C= (p.Leu448=)
c.1054C= (p.Leu352=)
c.4675C= (p.Leu1559=)
n.3988C=
c.4057C= (p.Leu1353=)
c.1474C= (p.Leu492=)
c.2836C= (p.Leu946=)
c.1339C= (p.Leu447=)
c.3157C= (p.Leu1053=)
18g.46524773G>TCA402373251LOXHD1c.1342C>A (p.Leu448Ile)
c.1054C>A (p.Leu352Ile)
c.4675C>A (p.Leu1559Ile)
n.3988C>A
c.4057C>A (p.Leu1353Ile)
c.1474C>A (p.Leu492Ile)
c.2836C>A (p.Leu946Ile)
c.1339C>A (p.Leu447Ile)
c.3157C>A (p.Leu1053Ile)
18g.46524774G>ACA503809440LOXHD1c.1341C>T (p.Phe447=)
c.1053C>T (p.Phe351=)
c.4674C>T (p.Phe1558=)
n.3987C>T
c.4056C>T (p.Phe1352=)
c.1473C>T (p.Phe491=)
c.2835C>T (p.Phe945=)
c.1338C>T (p.Phe446=)
c.3156C>T (p.Phe1052=)
 dbSNP gnomAD v2
18g.46524774G>CCA402373252LOXHD1c.1341C>G (p.Phe447Leu)
c.1053C>G (p.Phe351Leu)
c.4674C>G (p.Phe1558Leu)
n.3987C>G
c.4056C>G (p.Phe1352Leu)
c.1473C>G (p.Phe491Leu)
c.2835C>G (p.Phe945Leu)
c.1338C>G (p.Phe446Leu)
c.3156C>G (p.Phe1052Leu)
18g.46524774G=CA2300872220LOXHD1c.1341C= (p.Phe447=)
c.1053C= (p.Phe351=)
c.4674C= (p.Phe1558=)
n.3987C=
c.4056C= (p.Phe1352=)
c.1473C= (p.Phe491=)
c.2835C= (p.Phe945=)
c.1338C= (p.Phe446=)
c.3156C= (p.Phe1052=)
18g.46524774G>TCA402373253LOXHD1c.1341C>A (p.Phe447Leu)
c.1053C>A (p.Phe351Leu)
c.4674C>A (p.Phe1558Leu)
n.3987C>A
c.4056C>A (p.Phe1352Leu)
c.1473C>A (p.Phe491Leu)
c.2835C>A (p.Phe945Leu)
c.1338C>A (p.Phe446Leu)
c.3156C>A (p.Phe1052Leu)
18g.46524775A>CCA402373256LOXHD1c.1340T>G (p.Phe447Cys)
c.1052T>G (p.Phe351Cys)
c.4673T>G (p.Phe1558Cys)
n.3986T>G
c.4055T>G (p.Phe1352Cys)
c.1472T>G (p.Phe491Cys)
c.2834T>G (p.Phe945Cys)
c.1337T>G (p.Phe446Cys)
c.3155T>G (p.Phe1052Cys)
18g.46524775A>GCA402373255LOXHD1c.1340T>C (p.Phe447Ser)
c.1052T>C (p.Phe351Ser)
c.4673T>C (p.Phe1558Ser)
n.3986T>C
c.4055T>C (p.Phe1352Ser)
c.1472T>C (p.Phe491Ser)
c.2834T>C (p.Phe945Ser)
c.1337T>C (p.Phe446Ser)
c.3155T>C (p.Phe1052Ser)
18g.46524775A>TCA402373254LOXHD1c.1340T>A (p.Phe447Tyr)
c.1052T>A (p.Phe351Tyr)
c.4673T>A (p.Phe1558Tyr)
n.3986T>A
c.4055T>A (p.Phe1352Tyr)
c.1472T>A (p.Phe491Tyr)
c.2834T>A (p.Phe945Tyr)
c.1337T>A (p.Phe446Tyr)
c.3155T>A (p.Phe1052Tyr)
18g.46524776A>CCA402373257LOXHD1c.1339T>G (p.Phe447Val)
c.1051T>G (p.Phe351Val)
c.4672T>G (p.Phe1558Val)
n.3985T>G
c.4054T>G (p.Phe1352Val)
c.1471T>G (p.Phe491Val)
c.2833T>G (p.Phe945Val)
c.1336T>G (p.Phe446Val)
c.3154T>G (p.Phe1052Val)
18g.46524776A>GCA402373258LOXHD1c.1339T>C (p.Phe447Leu)
c.1051T>C (p.Phe351Leu)
c.4672T>C (p.Phe1558Leu)
n.3985T>C
c.4054T>C (p.Phe1352Leu)
c.1471T>C (p.Phe491Leu)
c.2833T>C (p.Phe945Leu)
c.1336T>C (p.Phe446Leu)
c.3154T>C (p.Phe1052Leu)
18g.46524776A>TCA402373259LOXHD1c.1339T>A (p.Phe447Ile)
c.1051T>A (p.Phe351Ile)
c.4672T>A (p.Phe1558Ile)
n.3985T>A
c.4054T>A (p.Phe1352Ile)
c.1471T>A (p.Phe491Ile)
c.2833T>A (p.Phe945Ile)
c.1336T>A (p.Phe446Ile)
c.3154T>A (p.Phe1052Ile)
18g.46524777C>ACA503809441LOXHD1c.1338G>T (p.Leu446=)
c.1050G>T (p.Leu350=)
c.4671G>T (p.Leu1557=)
n.3984G>T
c.4053G>T (p.Leu1351=)
c.1470G>T (p.Leu490=)
c.2832G>T (p.Leu944=)
c.1335G>T (p.Leu445=)
c.3153G>T (p.Leu1051=)
 dbSNP
18g.46524777C=CA2300872221LOXHD1c.1338G= (p.Leu446=)
c.1050G= (p.Leu350=)
c.4671G= (p.Leu1557=)
n.3984G=
c.4053G= (p.Leu1351=)
c.1470G= (p.Leu490=)
c.2832G= (p.Leu944=)
c.1335G= (p.Leu445=)
c.3153G= (p.Leu1051=)
18g.46524777C>GCA503809442LOXHD1c.1338G>C (p.Leu446=)
c.1050G>C (p.Leu350=)
c.4671G>C (p.Leu1557=)
n.3984G>C
c.4053G>C (p.Leu1351=)
c.1470G>C (p.Leu490=)
c.2832G>C (p.Leu944=)
c.1335G>C (p.Leu445=)
c.3153G>C (p.Leu1051=)
 dbSNP gnomAD v3 gnomAD v4
18g.46524777C>TCA8952314LOXHD1c.1338G>A (p.Leu446=)
c.1050G>A (p.Leu350=)
c.4671G>A (p.Leu1557=)
n.3984G>A
c.4053G>A (p.Leu1351=)
c.1470G>A (p.Leu490=)
c.2832G>A (p.Leu944=)
c.1335G>A (p.Leu445=)
c.3153G>A (p.Leu1051=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.46524778A>CCA402373260LOXHD1c.1337T>G (p.Leu446Arg)
c.1049T>G (p.Leu350Arg)
c.4670T>G (p.Leu1557Arg)
n.3983T>G
c.4052T>G (p.Leu1351Arg)
c.1469T>G (p.Leu490Arg)
c.2831T>G (p.Leu944Arg)
c.1334T>G (p.Leu445Arg)
c.3152T>G (p.Leu1051Arg)
18g.46524778A>GCA402373261LOXHD1c.1337T>C (p.Leu446Pro)
c.1049T>C (p.Leu350Pro)
c.4670T>C (p.Leu1557Pro)
n.3983T>C
c.4052T>C (p.Leu1351Pro)
c.1469T>C (p.Leu490Pro)
c.2831T>C (p.Leu944Pro)
c.1334T>C (p.Leu445Pro)
c.3152T>C (p.Leu1051Pro)
18g.46524778A>TCA402373262LOXHD1c.1337T>A (p.Leu446Gln)
c.1049T>A (p.Leu350Gln)
c.4670T>A (p.Leu1557Gln)
n.3983T>A
c.4052T>A (p.Leu1351Gln)
c.1469T>A (p.Leu490Gln)
c.2831T>A (p.Leu944Gln)
c.1334T>A (p.Leu445Gln)
c.3152T>A (p.Leu1051Gln)
18g.46524779G>ACA503809443LOXHD1c.1336C>T (p.Leu446=)
c.1048C>T (p.Leu350=)
c.4669C>T (p.Leu1557=)
n.3982C>T
c.4051C>T (p.Leu1351=)
c.1468C>T (p.Leu490=)
c.2830C>T (p.Leu944=)
c.1333C>T (p.Leu445=)
c.3151C>T (p.Leu1051=)
 dbSNP gnomAD v3 gnomAD v4
18g.46524779G>CCA402373263LOXHD1c.1336C>G (p.Leu446Val)
c.1048C>G (p.Leu350Val)
c.4669C>G (p.Leu1557Val)
n.3982C>G
c.4051C>G (p.Leu1351Val)
c.1468C>G (p.Leu490Val)
c.2830C>G (p.Leu944Val)
c.1333C>G (p.Leu445Val)
c.3151C>G (p.Leu1051Val)
18g.46524779G=CA2300872222LOXHD1c.1336C= (p.Leu446=)
c.1048C= (p.Leu350=)
c.4669C= (p.Leu1557=)
n.3982C=
c.4051C= (p.Leu1351=)
c.1468C= (p.Leu490=)
c.2830C= (p.Leu944=)
c.1333C= (p.Leu445=)
c.3151C= (p.Leu1051=)
18g.46524779G>TCA402373264LOXHD1c.1336C>A (p.Leu446Met)
c.1048C>A (p.Leu350Met)
c.4669C>A (p.Leu1557Met)
n.3982C>A
c.4051C>A (p.Leu1351Met)
c.1468C>A (p.Leu490Met)
c.2830C>A (p.Leu944Met)
c.1333C>A (p.Leu445Met)
c.3151C>A (p.Leu1051Met)
18g.46524780G>ACA503809444LOXHD1c.1335C>T (p.Phe445=)
c.1047C>T (p.Phe349=)
c.4668C>T (p.Phe1556=)
n.3981C>T
c.4050C>T (p.Phe1350=)
c.1467C>T (p.Phe489=)
c.2829C>T (p.Phe943=)
c.1332C>T (p.Phe444=)
c.3150C>T (p.Phe1050=)
 COSMIC COSMIC
18g.46524780G>CCA402373265LOXHD1c.1335C>G (p.Phe445Leu)
c.1047C>G (p.Phe349Leu)
c.4668C>G (p.Phe1556Leu)
n.3981C>G
c.4050C>G (p.Phe1350Leu)
c.1467C>G (p.Phe489Leu)
c.2829C>G (p.Phe943Leu)
c.1332C>G (p.Phe444Leu)
c.3150C>G (p.Phe1050Leu)
18g.46524780G>TCA402373266LOXHD1c.1335C>A (p.Phe445Leu)
c.1047C>A (p.Phe349Leu)
c.4668C>A (p.Phe1556Leu)
n.3981C>A
c.4050C>A (p.Phe1350Leu)
c.1467C>A (p.Phe489Leu)
c.2829C>A (p.Phe943Leu)
c.1332C>A (p.Phe444Leu)
c.3150C>A (p.Phe1050Leu)
 gnomAD v4
18g.46524781A>CCA402373267LOXHD1c.1334T>G (p.Phe445Cys)
c.1046T>G (p.Phe349Cys)
c.4667T>G (p.Phe1556Cys)
n.3980T>G
c.4049T>G (p.Phe1350Cys)
c.1466T>G (p.Phe489Cys)
c.2828T>G (p.Phe943Cys)
c.1331T>G (p.Phe444Cys)
c.3149T>G (p.Phe1050Cys)
18g.46524781A>GCA402373268LOXHD1c.1334T>C (p.Phe445Ser)
c.1046T>C (p.Phe349Ser)
c.4667T>C (p.Phe1556Ser)
n.3980T>C
c.4049T>C (p.Phe1350Ser)
c.1466T>C (p.Phe489Ser)
c.2828T>C (p.Phe943Ser)
c.1331T>C (p.Phe444Ser)
c.3149T>C (p.Phe1050Ser)
18g.46524781A>TCA402373269LOXHD1c.1334T>A (p.Phe445Tyr)
c.1046T>A (p.Phe349Tyr)
c.4667T>A (p.Phe1556Tyr)
n.3980T>A
c.4049T>A (p.Phe1350Tyr)
c.1466T>A (p.Phe489Tyr)
c.2828T>A (p.Phe943Tyr)
c.1331T>A (p.Phe444Tyr)
c.3149T>A (p.Phe1050Tyr)
18g.46524782A>CCA402373270LOXHD1c.1333T>G (p.Phe445Val)
c.1045T>G (p.Phe349Val)
c.4666T>G (p.Phe1556Val)
n.3979T>G
c.4048T>G (p.Phe1350Val)
c.1465T>G (p.Phe489Val)
c.2827T>G (p.Phe943Val)
c.1330T>G (p.Phe444Val)
c.3148T>G (p.Phe1050Val)
18g.46524782A>GCA402373272LOXHD1c.1333T>C (p.Phe445Leu)
c.1045T>C (p.Phe349Leu)
c.4666T>C (p.Phe1556Leu)
n.3979T>C
c.4048T>C (p.Phe1350Leu)
c.1465T>C (p.Phe489Leu)
c.2827T>C (p.Phe943Leu)
c.1330T>C (p.Phe444Leu)
c.3148T>C (p.Phe1050Leu)
18g.46524782A>TCA402373271LOXHD1c.1333T>A (p.Phe445Ile)
c.1045T>A (p.Phe349Ile)
c.4666T>A (p.Phe1556Ile)
n.3979T>A
c.4048T>A (p.Phe1350Ile)
c.1465T>A (p.Phe489Ile)
c.2827T>A (p.Phe943Ile)
c.1330T>A (p.Phe444Ile)
c.3148T>A (p.Phe1050Ile)
 gnomAD v4
18g.46524783C>ACA402373273LOXHD1c.1332G>T (p.Glu444Asp)
c.1044G>T (p.Glu348Asp)
c.4665G>T (p.Glu1555Asp)
n.3978G>T
c.4047G>T (p.Glu1349Asp)
c.1464G>T (p.Glu488Asp)
c.2826G>T (p.Glu942Asp)
c.1329G>T (p.Glu443Asp)
c.3147G>T (p.Glu1049Asp)
18g.46524783C=CA2300872223LOXHD1c.1332G= (p.Glu444=)
c.1044G= (p.Glu348=)
c.4665G= (p.Glu1555=)
n.3978G=
c.4047G= (p.Glu1349=)
c.1464G= (p.Glu488=)
c.2826G= (p.Glu942=)
c.1329G= (p.Glu443=)
c.3147G= (p.Glu1049=)
18g.46524783C>GCA402373274LOXHD1c.1332G>C (p.Glu444Asp)
c.1044G>C (p.Glu348Asp)
c.4665G>C (p.Glu1555Asp)
n.3978G>C
c.4047G>C (p.Glu1349Asp)
c.1464G>C (p.Glu488Asp)
c.2826G>C (p.Glu942Asp)
c.1329G>C (p.Glu443Asp)
c.3147G>C (p.Glu1049Asp)
 dbSNP
18g.46524783C>TCA503809445LOXHD1c.1332G>A (p.Glu444=)
c.1044G>A (p.Glu348=)
c.4665G>A (p.Glu1555=)
n.3978G>A
c.4047G>A (p.Glu1349=)
c.1464G>A (p.Glu488=)
c.2826G>A (p.Glu942=)
c.1329G>A (p.Glu443=)
c.3147G>A (p.Glu1049=)
 ClinVar dbSNP
18g.46524784T>ACA402373275LOXHD1c.1331A>T (p.Glu444Val)
c.1043A>T (p.Glu348Val)
c.4664A>T (p.Glu1555Val)
n.3977A>T
c.4046A>T (p.Glu1349Val)
c.1463A>T (p.Glu488Val)
c.2825A>T (p.Glu942Val)
c.1328A>T (p.Glu443Val)
c.3146A>T (p.Glu1049Val)
18g.46524784T>CCA402373276LOXHD1c.1331A>G (p.Glu444Gly)
c.1043A>G (p.Glu348Gly)
c.4664A>G (p.Glu1555Gly)
n.3977A>G
c.4046A>G (p.Glu1349Gly)
c.1463A>G (p.Glu488Gly)
c.2825A>G (p.Glu942Gly)
c.1328A>G (p.Glu443Gly)
c.3146A>G (p.Glu1049Gly)
 gnomAD v4
18g.46524784T>GCA402373277LOXHD1c.1331A>C (p.Glu444Ala)
c.1043A>C (p.Glu348Ala)
c.4664A>C (p.Glu1555Ala)
n.3977A>C
c.4046A>C (p.Glu1349Ala)
c.1463A>C (p.Glu488Ala)
c.2825A>C (p.Glu942Ala)
c.1328A>C (p.Glu443Ala)
c.3146A>C (p.Glu1049Ala)
18g.46524785C>ACA402373278LOXHD1c.1330G>T (p.Glu444Ter)
c.1042G>T (p.Glu348Ter)
c.4663G>T (p.Glu1555Ter)
n.3976G>T
c.4045G>T (p.Glu1349Ter)
c.1462G>T (p.Glu488Ter)
c.2824G>T (p.Glu942Ter)
c.1327G>T (p.Glu443Ter)
c.3145G>T (p.Glu1049Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.46524785C=CA2300872224LOXHD1c.1330G= (p.Glu444=)
c.1042G= (p.Glu348=)
c.4663G= (p.Glu1555=)
n.3976G=
c.4045G= (p.Glu1349=)
c.1462G= (p.Glu488=)
c.2824G= (p.Glu942=)
c.1327G= (p.Glu443=)
c.3145G= (p.Glu1049=)
18g.46524785C>GCA402373279LOXHD1c.1330G>C (p.Glu444Gln)
c.1042G>C (p.Glu348Gln)
c.4663G>C (p.Glu1555Gln)
n.3976G>C
c.4045G>C (p.Glu1349Gln)
c.1462G>C (p.Glu488Gln)
c.2824G>C (p.Glu942Gln)
c.1327G>C (p.Glu443Gln)
c.3145G>C (p.Glu1049Gln)
18g.46524785C>TCA402373280LOXHD1c.1330G>A (p.Glu444Lys)
c.1042G>A (p.Glu348Lys)
c.4663G>A (p.Glu1555Lys)
n.3976G>A
c.4045G>A (p.Glu1349Lys)
c.1462G>A (p.Glu488Lys)
c.2824G>A (p.Glu942Lys)
c.1327G>A (p.Glu443Lys)
c.3145G>A (p.Glu1049Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.46524786G>ACA8952315LOXHD1c.1329C>T (p.Asp443=)
c.1041C>T (p.Asp347=)
c.4662C>T (p.Asp1554=)
n.3975C>T
c.4044C>T (p.Asp1348=)
c.1461C>T (p.Asp487=)
c.2823C>T (p.Asp941=)
c.1326C>T (p.Asp442=)
c.3144C>T (p.Asp1048=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.46524786G>CCA402373281LOXHD1c.1329C>G (p.Asp443Glu)
c.1041C>G (p.Asp347Glu)
c.4662C>G (p.Asp1554Glu)
n.3975C>G
c.4044C>G (p.Asp1348Glu)
c.1461C>G (p.Asp487Glu)
c.2823C>G (p.Asp941Glu)
c.1326C>G (p.Asp442Glu)
c.3144C>G (p.Asp1048Glu)
 gnomAD v4
18g.46524786G=CA2300872225LOXHD1c.1329C= (p.Asp443=)
c.1041C= (p.Asp347=)
c.4662C= (p.Asp1554=)
n.3975C=
c.4044C= (p.Asp1348=)
c.1461C= (p.Asp487=)
c.2823C= (p.Asp941=)
c.1326C= (p.Asp442=)
c.3144C= (p.Asp1048=)
18g.46524786G>TCA402373282LOXHD1c.1329C>A (p.Asp443Glu)
c.1041C>A (p.Asp347Glu)
c.4662C>A (p.Asp1554Glu)
n.3975C>A
c.4044C>A (p.Asp1348Glu)
c.1461C>A (p.Asp487Glu)
c.2823C>A (p.Asp941Glu)
c.1326C>A (p.Asp442Glu)
c.3144C>A (p.Asp1048Glu)
 dbSNP gnomAD v4
18g.46524787T>ACA402373283LOXHD1c.1328A>T (p.Asp443Val)
c.1040A>T (p.Asp347Val)
c.4661A>T (p.Asp1554Val)
n.3974A>T
c.4043A>T (p.Asp1348Val)
c.1460A>T (p.Asp487Val)
c.2822A>T (p.Asp941Val)
c.1325A>T (p.Asp442Val)
c.3143A>T (p.Asp1048Val)
18g.46524787T>CCA402373285LOXHD1c.1328A>G (p.Asp443Gly)
c.1040A>G (p.Asp347Gly)
c.4661A>G (p.Asp1554Gly)
n.3974A>G
c.4043A>G (p.Asp1348Gly)
c.1460A>G (p.Asp487Gly)
c.2822A>G (p.Asp941Gly)
c.1325A>G (p.Asp442Gly)
c.3143A>G (p.Asp1048Gly)
18g.46524787T>GCA402373284LOXHD1c.1328A>C (p.Asp443Ala)
c.1040A>C (p.Asp347Ala)
c.4661A>C (p.Asp1554Ala)
n.3974A>C
c.4043A>C (p.Asp1348Ala)
c.1460A>C (p.Asp487Ala)
c.2822A>C (p.Asp941Ala)
c.1325A>C (p.Asp442Ala)
c.3143A>C (p.Asp1048Ala)
18g.46524788C>ACA402373286LOXHD1c.1327G>T (p.Asp443Tyr)
c.1039G>T (p.Asp347Tyr)
c.4660G>T (p.Asp1554Tyr)
n.3973G>T
c.4042G>T (p.Asp1348Tyr)
c.1459G>T (p.Asp487Tyr)
c.2821G>T (p.Asp941Tyr)
c.1324G>T (p.Asp442Tyr)
c.3142G>T (p.Asp1048Tyr)
18g.46524788C>GCA402373288LOXHD1c.1327G>C (p.Asp443His)
c.1039G>C (p.Asp347His)
c.4660G>C (p.Asp1554His)
n.3973G>C
c.4042G>C (p.Asp1348His)
c.1459G>C (p.Asp487His)
c.2821G>C (p.Asp941His)
c.1324G>C (p.Asp442His)
c.3142G>C (p.Asp1048His)
18g.46524788C>TCA402373287LOXHD1c.1327G>A (p.Asp443Asn)
c.1039G>A (p.Asp347Asn)
c.4660G>A (p.Asp1554Asn)
n.3973G>A
c.4042G>A (p.Asp1348Asn)
c.1459G>A (p.Asp487Asn)
c.2821G>A (p.Asp941Asn)
c.1324G>A (p.Asp442Asn)
c.3142G>A (p.Asp1048Asn)
18g.46524789C>ACA402373289LOXHD1c.1326G>T (p.Glu442Asp)
c.1038G>T (p.Glu346Asp)
c.4659G>T (p.Glu1553Asp)
n.3972G>T
c.4041G>T (p.Glu1347Asp)
c.1458G>T (p.Glu486Asp)
c.2820G>T (p.Glu940Asp)
c.1323G>T (p.Glu441Asp)
c.3141G>T (p.Glu1047Asp)
18g.46524789C>GCA402373290LOXHD1c.1326G>C (p.Glu442Asp)
c.1038G>C (p.Glu346Asp)
c.4659G>C (p.Glu1553Asp)
n.3972G>C
c.4041G>C (p.Glu1347Asp)
c.1458G>C (p.Glu486Asp)
c.2820G>C (p.Glu940Asp)
c.1323G>C (p.Glu441Asp)
c.3141G>C (p.Glu1047Asp)
18g.46524789C>TCA503809446LOXHD1c.1326G>A (p.Glu442=)
c.1038G>A (p.Glu346=)
c.4659G>A (p.Glu1553=)
n.3972G>A
c.4041G>A (p.Glu1347=)
c.1458G>A (p.Glu486=)
c.2820G>A (p.Glu940=)
c.1323G>A (p.Glu441=)
c.3141G>A (p.Glu1047=)
18g.46524790T>ACA402373291LOXHD1c.1325A>T (p.Glu442Val)
c.1037A>T (p.Glu346Val)
c.4658A>T (p.Glu1553Val)
n.3971A>T
c.4040A>T (p.Glu1347Val)
c.1457A>T (p.Glu486Val)
c.2819A>T (p.Glu940Val)
c.1322A>T (p.Glu441Val)
c.3140A>T (p.Glu1047Val)
18g.46524790T>CCA402373292LOXHD1c.1325A>G (p.Glu442Gly)
c.1037A>G (p.Glu346Gly)
c.4658A>G (p.Glu1553Gly)
n.3971A>G
c.4040A>G (p.Glu1347Gly)
c.1457A>G (p.Glu486Gly)
c.2819A>G (p.Glu940Gly)
c.1322A>G (p.Glu441Gly)
c.3140A>G (p.Glu1047Gly)
18g.46524790T>GCA402373293LOXHD1c.1325A>C (p.Glu442Ala)
c.1037A>C (p.Glu346Ala)
c.4658A>C (p.Glu1553Ala)
n.3971A>C
c.4040A>C (p.Glu1347Ala)
c.1457A>C (p.Glu486Ala)
c.2819A>C (p.Glu940Ala)
c.1322A>C (p.Glu441Ala)
c.3140A>C (p.Glu1047Ala)
 gnomAD v4
18g.46524791C>ACA402373294LOXHD1c.1324G>T (p.Glu442Ter)
c.1036G>T (p.Glu346Ter)
c.4657G>T (p.Glu1553Ter)
n.3970G>T
c.4039G>T (p.Glu1347Ter)
c.1456G>T (p.Glu486Ter)
c.2818G>T (p.Glu940Ter)
c.1321G>T (p.Glu441Ter)
c.3139G>T (p.Glu1047Ter)
18g.46524791C=CA2300872226LOXHD1c.1324G= (p.Glu442=)
c.1036G= (p.Glu346=)
c.4657G= (p.Glu1553=)
n.3970G=
c.4039G= (p.Glu1347=)
c.1456G= (p.Glu486=)
c.2818G= (p.Glu940=)
c.1321G= (p.Glu441=)
c.3139G= (p.Glu1047=)
18g.46524791C>GCA402373295LOXHD1c.1324G>C (p.Glu442Gln)
c.1036G>C (p.Glu346Gln)
c.4657G>C (p.Glu1553Gln)
n.3970G>C
c.4039G>C (p.Glu1347Gln)
c.1456G>C (p.Glu486Gln)
c.2818G>C (p.Glu940Gln)
c.1321G>C (p.Glu441Gln)
c.3139G>C (p.Glu1047Gln)
18g.46524791C>TCA8952316LOXHD1c.1324G>A (p.Glu442Lys)
c.1036G>A (p.Glu346Lys)
c.4657G>A (p.Glu1553Lys)
n.3970G>A
c.4039G>A (p.Glu1347Lys)
c.1456G>A (p.Glu486Lys)
c.2818G>A (p.Glu940Lys)
c.1321G>A (p.Glu441Lys)
c.3139G>A (p.Glu1047Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.46524792G>ACA8952317LOXHD1c.1323C>T (p.Asn441=)
c.1035C>T (p.Asn345=)
c.4656C>T (p.Asn1552=)
n.3969C>T
c.4038C>T (p.Asn1346=)
c.1455C>T (p.Asn485=)
c.2817C>T (p.Asn939=)
c.1320C>T (p.Asn440=)
c.3138C>T (p.Asn1046=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.46524792G>CCA402373296LOXHD1c.1323C>G (p.Asn441Lys)
c.1035C>G (p.Asn345Lys)
c.4656C>G (p.Asn1552Lys)
n.3969C>G
c.4038C>G (p.Asn1346Lys)
c.1455C>G (p.Asn485Lys)
c.2817C>G (p.Asn939Lys)
c.1320C>G (p.Asn440Lys)
c.3138C>G (p.Asn1046Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.46524792G=CA2300872227LOXHD1c.1323C= (p.Asn441=)
c.1035C= (p.Asn345=)
c.4656C= (p.Asn1552=)
n.3969C=
c.4038C= (p.Asn1346=)
c.1455C= (p.Asn485=)
c.2817C= (p.Asn939=)
c.1320C= (p.Asn440=)
c.3138C= (p.Asn1046=)
18g.46524792G>TCA402373297LOXHD1c.1323C>A (p.Asn441Lys)
c.1035C>A (p.Asn345Lys)
c.4656C>A (p.Asn1552Lys)
n.3969C>A
c.4038C>A (p.Asn1346Lys)
c.1455C>A (p.Asn485Lys)
c.2817C>A (p.Asn939Lys)
c.1320C>A (p.Asn440Lys)
c.3138C>A (p.Asn1046Lys)
18g.46524793T>ACA402373300LOXHD1c.1322A>T (p.Asn441Ile)
c.1034A>T (p.Asn345Ile)
c.4655A>T (p.Asn1552Ile)
n.3968A>T
c.4037A>T (p.Asn1346Ile)
c.1454A>T (p.Asn485Ile)
c.2816A>T (p.Asn939Ile)
c.1319A>T (p.Asn440Ile)
c.3137A>T (p.Asn1046Ile)
18g.46524793T>CCA402373299LOXHD1c.1322A>G (p.Asn441Ser)
c.1034A>G (p.Asn345Ser)
c.4655A>G (p.Asn1552Ser)
n.3968A>G
c.4037A>G (p.Asn1346Ser)
c.1454A>G (p.Asn485Ser)
c.2816A>G (p.Asn939Ser)
c.1319A>G (p.Asn440Ser)
c.3137A>G (p.Asn1046Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.46524793T>GCA402373298LOXHD1c.1322A>C (p.Asn441Thr)
c.1034A>C (p.Asn345Thr)
c.4655A>C (p.Asn1552Thr)
n.3968A>C
c.4037A>C (p.Asn1346Thr)
c.1454A>C (p.Asn485Thr)
c.2816A>C (p.Asn939Thr)
c.1319A>C (p.Asn440Thr)
c.3137A>C (p.Asn1046Thr)
18g.46524793T=CA2300872228LOXHD1c.1322A= (p.Asn441=)
c.1034A= (p.Asn345=)
c.4655A= (p.Asn1552=)
n.3968A=
c.4037A= (p.Asn1346=)
c.1454A= (p.Asn485=)
c.2816A= (p.Asn939=)
c.1319A= (p.Asn440=)
c.3137A= (p.Asn1046=)
18g.46524794T>ACA402373301LOXHD1c.1321A>T (p.Asn441Tyr)
c.1033A>T (p.Asn345Tyr)
c.4654A>T (p.Asn1552Tyr)
n.3967A>T
c.4036A>T (p.Asn1346Tyr)
c.1453A>T (p.Asn485Tyr)
c.2815A>T (p.Asn939Tyr)
c.1318A>T (p.Asn440Tyr)
c.3136A>T (p.Asn1046Tyr)
18g.46524794T>CCA402373302LOXHD1c.1321A>G (p.Asn441Asp)
c.1033A>G (p.Asn345Asp)
c.4654A>G (p.Asn1552Asp)
n.3967A>G
c.4036A>G (p.Asn1346Asp)
c.1453A>G (p.Asn485Asp)
c.2815A>G (p.Asn939Asp)
c.1318A>G (p.Asn440Asp)
c.3136A>G (p.Asn1046Asp)
18g.46524794T>GCA402373303LOXHD1c.1321A>C (p.Asn441His)
c.1033A>C (p.Asn345His)
c.4654A>C (p.Asn1552His)
n.3967A>C
c.4036A>C (p.Asn1346His)
c.1453A>C (p.Asn485His)
c.2815A>C (p.Asn939His)
c.1318A>C (p.Asn440His)
c.3136A>C (p.Asn1046His)
 dbSNP
18g.46524794T=CA2300872229LOXHD1c.1321A= (p.Asn441=)
c.1033A= (p.Asn345=)
c.4654A= (p.Asn1552=)
n.3967A=
c.4036A= (p.Asn1346=)
c.1453A= (p.Asn485=)
c.2815A= (p.Asn939=)
c.1318A= (p.Asn440=)
c.3136A= (p.Asn1046=)
18g.46524795G>ACA503809447LOXHD1c.1320C>T (p.Thr440=)
c.1032C>T (p.Thr344=)
c.4653C>T (p.Thr1551=)
n.3966C>T
c.4035C>T (p.Thr1345=)
c.1452C>T (p.Thr484=)
c.2814C>T (p.Thr938=)
c.1317C>T (p.Thr439=)
c.3135C>T (p.Thr1045=)
 dbSNP gnomAD v2 gnomAD v4
18g.46524795G>CCA299801833LOXHD1c.1320C>G (p.Thr440=)
c.1032C>G (p.Thr344=)
c.4653C>G (p.Thr1551=)
n.3966C>G
c.4035C>G (p.Thr1345=)
c.1452C>G (p.Thr484=)
c.2814C>G (p.Thr938=)
c.1317C>G (p.Thr439=)
c.3135C>G (p.Thr1045=)
 dbSNP gnomAD v3 gnomAD v4
18g.46524795G=CA2300872230LOXHD1c.1320C= (p.Thr440=)
c.1032C= (p.Thr344=)
c.4653C= (p.Thr1551=)
n.3966C=
c.4035C= (p.Thr1345=)
c.1452C= (p.Thr484=)
c.2814C= (p.Thr938=)
c.1317C= (p.Thr439=)
c.3135C= (p.Thr1045=)
18g.46524795G>TCA503809448LOXHD1c.1320C>A (p.Thr440=)
c.1032C>A (p.Thr344=)
c.4653C>A (p.Thr1551=)
n.3966C>A
c.4035C>A (p.Thr1345=)
c.1452C>A (p.Thr484=)
c.2814C>A (p.Thr938=)
c.1317C>A (p.Thr439=)
c.3135C>A (p.Thr1045=)
18g.46524796G>ACA402373304LOXHD1c.1319C>T (p.Thr440Ile)
c.1031C>T (p.Thr344Ile)
c.4652C>T (p.Thr1551Ile)
n.3965C>T
c.4034C>T (p.Thr1345Ile)
c.1451C>T (p.Thr484Ile)
c.2813C>T (p.Thr938Ile)
c.1316C>T (p.Thr439Ile)
c.3134C>T (p.Thr1045Ile)
18g.46524796G>CCA402373305LOXHD1c.1319C>G (p.Thr440Ser)
c.1031C>G (p.Thr344Ser)
c.4652C>G (p.Thr1551Ser)
n.3965C>G
c.4034C>G (p.Thr1345Ser)
c.1451C>G (p.Thr484Ser)
c.2813C>G (p.Thr938Ser)
c.1316C>G (p.Thr439Ser)
c.3134C>G (p.Thr1045Ser)
18g.46524796G>TCA402373306LOXHD1c.1319C>A (p.Thr440Asn)
c.1031C>A (p.Thr344Asn)
c.4652C>A (p.Thr1551Asn)
n.3965C>A
c.4034C>A (p.Thr1345Asn)
c.1451C>A (p.Thr484Asn)
c.2813C>A (p.Thr938Asn)
c.1316C>A (p.Thr439Asn)
c.3134C>A (p.Thr1045Asn)
18g.46524797T>ACA402373307LOXHD1c.1318A>T (p.Thr440Ser)
c.1030A>T (p.Thr344Ser)
c.4651A>T (p.Thr1551Ser)
n.3964A>T
c.4033A>T (p.Thr1345Ser)
c.1450A>T (p.Thr484Ser)
c.2812A>T (p.Thr938Ser)
c.1315A>T (p.Thr439Ser)
c.3133A>T (p.Thr1045Ser)
18g.46524797T>CCA402373308LOXHD1c.1318A>G (p.Thr440Ala)
c.1030A>G (p.Thr344Ala)
c.4651A>G (p.Thr1551Ala)
n.3964A>G
c.4033A>G (p.Thr1345Ala)
c.1450A>G (p.Thr484Ala)
c.2812A>G (p.Thr938Ala)
c.1315A>G (p.Thr439Ala)
c.3133A>G (p.Thr1045Ala)
18g.46524797T>GCA402373309LOXHD1c.1318A>C (p.Thr440Pro)
c.1030A>C (p.Thr344Pro)
c.4651A>C (p.Thr1551Pro)
n.3964A>C
c.4033A>C (p.Thr1345Pro)
c.1450A>C (p.Thr484Pro)
c.2812A>C (p.Thr938Pro)
c.1315A>C (p.Thr439Pro)
c.3133A>C (p.Thr1045Pro)
18g.46524798G>ACA503809449LOXHD1c.1317C>T (p.Asp439=)
c.1029C>T (p.Asp343=)
c.4650C>T (p.Asp1550=)
n.3963C>T
c.4032C>T (p.Asp1344=)
c.1449C>T (p.Asp483=)
c.2811C>T (p.Asp937=)
c.1314C>T (p.Asp438=)
c.3132C>T (p.Asp1044=)
 gnomAD v4
18g.46524798G>CCA402373310LOXHD1c.1317C>G (p.Asp439Glu)
c.1029C>G (p.Asp343Glu)
c.4650C>G (p.Asp1550Glu)
n.3963C>G
c.4032C>G (p.Asp1344Glu)
c.1449C>G (p.Asp483Glu)
c.2811C>G (p.Asp937Glu)
c.1314C>G (p.Asp438Glu)
c.3132C>G (p.Asp1044Glu)
18g.46524798G>TCA402373311LOXHD1c.1317C>A (p.Asp439Glu)
c.1029C>A (p.Asp343Glu)
c.4650C>A (p.Asp1550Glu)
n.3963C>A
c.4032C>A (p.Asp1344Glu)
c.1449C>A (p.Asp483Glu)
c.2811C>A (p.Asp937Glu)
c.1314C>A (p.Asp438Glu)
c.3132C>A (p.Asp1044Glu)
18g.46524799T>ACA402373314LOXHD1c.1316A>T (p.Asp439Val)
c.1028A>T (p.Asp343Val)
c.4649A>T (p.Asp1550Val)
n.3962A>T
c.4031A>T (p.Asp1344Val)
c.1448A>T (p.Asp483Val)
c.2810A>T (p.Asp937Val)
c.1313A>T (p.Asp438Val)
c.3131A>T (p.Asp1044Val)
18g.46524799T>CCA402373313LOXHD1c.1316A>G (p.Asp439Gly)
c.1028A>G (p.Asp343Gly)
c.4649A>G (p.Asp1550Gly)
n.3962A>G
c.4031A>G (p.Asp1344Gly)
c.1448A>G (p.Asp483Gly)
c.2810A>G (p.Asp937Gly)
c.1313A>G (p.Asp438Gly)
c.3131A>G (p.Asp1044Gly)
18g.46524799T>GCA402373312LOXHD1c.1316A>C (p.Asp439Ala)
c.1028A>C (p.Asp343Ala)
c.4649A>C (p.Asp1550Ala)
n.3962A>C
c.4031A>C (p.Asp1344Ala)
c.1448A>C (p.Asp483Ala)
c.2810A>C (p.Asp937Ala)
c.1313A>C (p.Asp438Ala)
c.3131A>C (p.Asp1044Ala)
18g.46524800C>ACA402373315LOXHD1c.1315G>T (p.Asp439Tyr)
c.1027G>T (p.Asp343Tyr)
c.4648G>T (p.Asp1550Tyr)
n.3961G>T
c.4030G>T (p.Asp1344Tyr)
c.1447G>T (p.Asp483Tyr)
c.2809G>T (p.Asp937Tyr)
c.1312G>T (p.Asp438Tyr)
c.3130G>T (p.Asp1044Tyr)
18g.46524800C>GCA402373316LOXHD1c.1315G>C (p.Asp439His)
c.1027G>C (p.Asp343His)
c.4648G>C (p.Asp1550His)
n.3961G>C
c.4030G>C (p.Asp1344His)
c.1447G>C (p.Asp483His)
c.2809G>C (p.Asp937His)
c.1312G>C (p.Asp438His)
c.3130G>C (p.Asp1044His)
18g.46524800C>TCA402373317LOXHD1c.1315G>A (p.Asp439Asn)
c.1027G>A (p.Asp343Asn)
c.4648G>A (p.Asp1550Asn)
n.3961G>A
c.4030G>A (p.Asp1344Asn)
c.1447G>A (p.Asp483Asn)
c.2809G>A (p.Asp937Asn)
c.1312G>A (p.Asp438Asn)
c.3130G>A (p.Asp1044Asn)
18g.46524801A=CA2300872231LOXHD1c.1314T= (p.Asn438=)
c.1026T= (p.Asn342=)
c.4647T= (p.Asn1549=)
n.3960T=
c.4029T= (p.Asn1343=)
c.1446T= (p.Asn482=)
c.2808T= (p.Asn936=)
c.1311T= (p.Asn437=)
c.3129T= (p.Asn1043=)
18g.46524801A>CCA402373318LOXHD1c.1314T>G (p.Asn438Lys)
c.1026T>G (p.Asn342Lys)
c.4647T>G (p.Asn1549Lys)
n.3960T>G
c.4029T>G (p.Asn1343Lys)
c.1446T>G (p.Asn482Lys)
c.2808T>G (p.Asn936Lys)
c.1311T>G (p.Asn437Lys)
c.3129T>G (p.Asn1043Lys)
18g.46524801A>GCA503809450LOXHD1c.1314T>C (p.Asn438=)
c.1026T>C (p.Asn342=)
c.4647T>C (p.Asn1549=)
n.3960T>C
c.4029T>C (p.Asn1343=)
c.1446T>C (p.Asn482=)
c.2808T>C (p.Asn936=)
c.1311T>C (p.Asn437=)
c.3129T>C (p.Asn1043=)
 dbSNP gnomAD v3 gnomAD v4
18g.46524801A>TCA402373319LOXHD1c.1314T>A (p.Asn438Lys)
c.1026T>A (p.Asn342Lys)
c.4647T>A (p.Asn1549Lys)
n.3960T>A
c.4029T>A (p.Asn1343Lys)
c.1446T>A (p.Asn482Lys)
c.2808T>A (p.Asn936Lys)
c.1311T>A (p.Asn437Lys)
c.3129T>A (p.Asn1043Lys)
18g.46524802T>ACA402373320LOXHD1c.1313A>T (p.Asn438Ile)
c.1025A>T (p.Asn342Ile)
c.4646A>T (p.Asn1549Ile)
n.3959A>T
c.4028A>T (p.Asn1343Ile)
c.1445A>T (p.Asn482Ile)
c.2807A>T (p.Asn936Ile)
c.1310A>T (p.Asn437Ile)
c.3128A>T (p.Asn1043Ile)
18g.46524802T>CCA402373321LOXHD1c.1313A>G (p.Asn438Ser)
c.1025A>G (p.Asn342Ser)
c.4646A>G (p.Asn1549Ser)
n.3959A>G
c.4028A>G (p.Asn1343Ser)
c.1445A>G (p.Asn482Ser)
c.2807A>G (p.Asn936Ser)
c.1310A>G (p.Asn437Ser)
c.3128A>G (p.Asn1043Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.46524802T>GCA402373322LOXHD1c.1313A>C (p.Asn438Thr)
c.1025A>C (p.Asn342Thr)
c.4646A>C (p.Asn1549Thr)
n.3959A>C
c.4028A>C (p.Asn1343Thr)
c.1445A>C (p.Asn482Thr)
c.2807A>C (p.Asn936Thr)
c.1310A>C (p.Asn437Thr)
c.3128A>C (p.Asn1043Thr)
18g.46524802T=CA2300872232LOXHD1c.1313A= (p.Asn438=)
c.1025A= (p.Asn342=)
c.4646A= (p.Asn1549=)
n.3959A=
c.4028A= (p.Asn1343=)
c.1445A= (p.Asn482=)
c.2807A= (p.Asn936=)
c.1310A= (p.Asn437=)
c.3128A= (p.Asn1043=)
18g.46524803T>ACA402373323LOXHD1c.1312A>T (p.Asn438Tyr)
c.1024A>T (p.Asn342Tyr)
c.4645A>T (p.Asn1549Tyr)
n.3958A>T
c.4027A>T (p.Asn1343Tyr)
c.1444A>T (p.Asn482Tyr)
c.2806A>T (p.Asn936Tyr)
c.1309A>T (p.Asn437Tyr)
c.3127A>T (p.Asn1043Tyr)
18g.46524803T>CCA402373324LOXHD1c.1312A>G (p.Asn438Asp)
c.1024A>G (p.Asn342Asp)
c.4645A>G (p.Asn1549Asp)
n.3958A>G
c.4027A>G (p.Asn1343Asp)
c.1444A>G (p.Asn482Asp)
c.2806A>G (p.Asn936Asp)
c.1309A>G (p.Asn437Asp)
c.3127A>G (p.Asn1043Asp)
 dbSNP
18g.46524803T>GCA402373325LOXHD1c.1312A>C (p.Asn438His)
c.1024A>C (p.Asn342His)
c.4645A>C (p.Asn1549His)
n.3958A>C
c.4027A>C (p.Asn1343His)
c.1444A>C (p.Asn482His)
c.2806A>C (p.Asn936His)
c.1309A>C (p.Asn437His)
c.3127A>C (p.Asn1043His)
18g.46524803T=CA2300872233LOXHD1c.1312A= (p.Asn438=)
c.1024A= (p.Asn342=)
c.4645A= (p.Asn1549=)
n.3958A=
c.4027A= (p.Asn1343=)
c.1444A= (p.Asn482=)
c.2806A= (p.Asn936=)
c.1309A= (p.Asn437=)
c.3127A= (p.Asn1043=)
18g.46524804C>ACA402373328LOXHD1c.1311G>T (p.Trp437Cys)
c.1023G>T (p.Trp341Cys)
c.4644G>T (p.Trp1548Cys)
n.3957G>T
c.4026G>T (p.Trp1342Cys)
c.1443G>T (p.Trp481Cys)
c.2805G>T (p.Trp935Cys)
c.1308G>T (p.Trp436Cys)
c.3126G>T (p.Trp1042Cys)
18g.46524804C>GCA402373327LOXHD1c.1311G>C (p.Trp437Cys)
c.1023G>C (p.Trp341Cys)
c.4644G>C (p.Trp1548Cys)
n.3957G>C
c.4026G>C (p.Trp1342Cys)
c.1443G>C (p.Trp481Cys)
c.2805G>C (p.Trp935Cys)
c.1308G>C (p.Trp436Cys)
c.3126G>C (p.Trp1042Cys)
 gnomAD v4
18g.46524804C>TCA402373326LOXHD1c.1311G>A (p.Trp437Ter)
c.1023G>A (p.Trp341Ter)
c.4644G>A (p.Trp1548Ter)
n.3957G>A
c.4026G>A (p.Trp1342Ter)
c.1443G>A (p.Trp481Ter)
c.2805G>A (p.Trp935Ter)
c.1308G>A (p.Trp436Ter)
c.3126G>A (p.Trp1042Ter)
18g.46524805C>ACA402373329LOXHD1c.1310G>T (p.Trp437Leu)
c.1022G>T (p.Trp341Leu)
c.4643G>T (p.Trp1548Leu)
n.3956G>T
c.4025G>T (p.Trp1342Leu)
c.1442G>T (p.Trp481Leu)
c.2804G>T (p.Trp935Leu)
c.1307G>T (p.Trp436Leu)
c.3125G>T (p.Trp1042Leu)
 COSMIC COSMIC COSMIC
18g.46524805C>GCA402373330LOXHD1c.1310G>C (p.Trp437Ser)
c.1022G>C (p.Trp341Ser)
c.4643G>C (p.Trp1548Ser)
n.3956G>C
c.4025G>C (p.Trp1342Ser)
c.1442G>C (p.Trp481Ser)
c.2804G>C (p.Trp935Ser)
c.1307G>C (p.Trp436Ser)
c.3125G>C (p.Trp1042Ser)
18g.46524805C>TCA402373331LOXHD1c.1310G>A (p.Trp437Ter)
c.1022G>A (p.Trp341Ter)
c.4643G>A (p.Trp1548Ter)
n.3956G>A
c.4025G>A (p.Trp1342Ter)
c.1442G>A (p.Trp481Ter)
c.2804G>A (p.Trp935Ter)
c.1307G>A (p.Trp436Ter)
c.3125G>A (p.Trp1042Ter)
18g.46524806A>CCA402373332LOXHD1c.1309T>G (p.Trp437Gly)
c.1021T>G (p.Trp341Gly)
c.4642T>G (p.Trp1548Gly)
n.3955T>G
c.4024T>G (p.Trp1342Gly)
c.1441T>G (p.Trp481Gly)
c.2803T>G (p.Trp935Gly)
c.1306T>G (p.Trp436Gly)
c.3124T>G (p.Trp1042Gly)
18g.46524806A>GCA402373333LOXHD1c.1309T>C (p.Trp437Arg)
c.1021T>C (p.Trp341Arg)
c.4642T>C (p.Trp1548Arg)
n.3955T>C
c.4024T>C (p.Trp1342Arg)
c.1441T>C (p.Trp481Arg)
c.2803T>C (p.Trp935Arg)
c.1306T>C (p.Trp436Arg)
c.3124T>C (p.Trp1042Arg)
 gnomAD v4
18g.46524806A>TCA402373334LOXHD1c.1309T>A (p.Trp437Arg)
c.1021T>A (p.Trp341Arg)
c.4642T>A (p.Trp1548Arg)
n.3955T>A
c.4024T>A (p.Trp1342Arg)
c.1441T>A (p.Trp481Arg)
c.2803T>A (p.Trp935Arg)
c.1306T>A (p.Trp436Arg)
c.3124T>A (p.Trp1042Arg)
18g.46524807G>ACA503809452LOXHD1c.1308C>T (p.Ile436=)
c.1020C>T (p.Ile340=)
c.4641C>T (p.Ile1547=)
n.3954C>T
c.4023C>T (p.Ile1341=)
c.1440C>T (p.Ile480=)
c.2802C>T (p.Ile934=)
c.1305C>T (p.Ile435=)
c.3123C>T (p.Ile1041=)
18g.46524807G>CCA402373335LOXHD1c.1308C>G (p.Ile436Met)
c.1020C>G (p.Ile340Met)
c.4641C>G (p.Ile1547Met)
n.3954C>G
c.4023C>G (p.Ile1341Met)
c.1440C>G (p.Ile480Met)
c.2802C>G (p.Ile934Met)
c.1305C>G (p.Ile435Met)
c.3123C>G (p.Ile1041Met)
18g.46524807G>TCA503809451LOXHD1c.1308C>A (p.Ile436=)
c.1020C>A (p.Ile340=)
c.4641C>A (p.Ile1547=)
n.3954C>A
c.4023C>A (p.Ile1341=)
c.1440C>A (p.Ile480=)
c.2802C>A (p.Ile934=)
c.1305C>A (p.Ile435=)
c.3123C>A (p.Ile1041=)
18g.46524808A=CA2300872234LOXHD1c.1307T= (p.Ile436=)
c.1019T= (p.Ile340=)
c.4640T= (p.Ile1547=)
n.3953T=
c.4022T= (p.Ile1341=)
c.1439T= (p.Ile480=)
c.2801T= (p.Ile934=)
c.1304T= (p.Ile435=)
c.3122T= (p.Ile1041=)
18g.46524808A>CCA402373336LOXHD1c.1307T>G (p.Ile436Ser)
c.1019T>G (p.Ile340Ser)
c.4640T>G (p.Ile1547Ser)
n.3953T>G
c.4022T>G (p.Ile1341Ser)
c.1439T>G (p.Ile480Ser)
c.2801T>G (p.Ile934Ser)
c.1304T>G (p.Ile435Ser)
c.3122T>G (p.Ile1041Ser)
18g.46524808A>GCA299801835LOXHD1c.1307T>C (p.Ile436Thr)
c.1019T>C (p.Ile340Thr)
c.4640T>C (p.Ile1547Thr)
n.3953T>C
c.4022T>C (p.Ile1341Thr)
c.1439T>C (p.Ile480Thr)
c.2801T>C (p.Ile934Thr)
c.1304T>C (p.Ile435Thr)
c.3122T>C (p.Ile1041Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.46524808A>TCA402373337LOXHD1c.1307T>A (p.Ile436Asn)
c.1019T>A (p.Ile340Asn)
c.4640T>A (p.Ile1547Asn)
n.3953T>A
c.4022T>A (p.Ile1341Asn)
c.1439T>A (p.Ile480Asn)
c.2801T>A (p.Ile934Asn)
c.1304T>A (p.Ile435Asn)
c.3122T>A (p.Ile1041Asn)
 dbSNP gnomAD v2 gnomAD v4
18g.46524809T>ACA402373338LOXHD1c.1306A>T (p.Ile436Phe)
c.1018A>T (p.Ile340Phe)
c.4639A>T (p.Ile1547Phe)
n.3952A>T
c.4021A>T (p.Ile1341Phe)
c.1438A>T (p.Ile480Phe)
c.2800A>T (p.Ile934Phe)
c.1303A>T (p.Ile435Phe)
c.3121A>T (p.Ile1041Phe)
18g.46524809T>CCA402373339LOXHD1c.1306A>G (p.Ile436Val)
c.1018A>G (p.Ile340Val)
c.4639A>G (p.Ile1547Val)
n.3952A>G
c.4021A>G (p.Ile1341Val)
c.1438A>G (p.Ile480Val)
c.2800A>G (p.Ile934Val)
c.1303A>G (p.Ile435Val)
c.3121A>G (p.Ile1041Val)
18g.46524809T>GCA299801837LOXHD1c.1306A>C (p.Ile436Leu)
c.1018A>C (p.Ile340Leu)
c.4639A>C (p.Ile1547Leu)
n.3952A>C
c.4021A>C (p.Ile1341Leu)
c.1438A>C (p.Ile480Leu)
c.2800A>C (p.Ile934Leu)
c.1303A>C (p.Ile435Leu)
c.3121A>C (p.Ile1041Leu)
 dbSNP gnomAD v4
18g.46524809T=CA2300872235LOXHD1c.1306A= (p.Ile436=)
c.1018A= (p.Ile340=)
c.4639A= (p.Ile1547=)
n.3952A=
c.4021A= (p.Ile1341=)
c.1438A= (p.Ile480=)
c.2800A= (p.Ile934=)
c.1303A= (p.Ile435=)
c.3121A= (p.Ile1041=)
18g.46524810C>ACA402373340LOXHD1c.1305G>T (p.Glu435Asp)
c.1017G>T (p.Glu339Asp)
c.4638G>T (p.Glu1546Asp)
n.3951G>T
c.4020G>T (p.Glu1340Asp)
c.1437G>T (p.Glu479Asp)
c.2799G>T (p.Glu933Asp)
c.1302G>T (p.Glu434Asp)
c.3120G>T (p.Glu1040Asp)
18g.46524810C>GCA402373341LOXHD1c.1305G>C (p.Glu435Asp)
c.1017G>C (p.Glu339Asp)
c.4638G>C (p.Glu1546Asp)
n.3951G>C
c.4020G>C (p.Glu1340Asp)
c.1437G>C (p.Glu479Asp)
c.2799G>C (p.Glu933Asp)
c.1302G>C (p.Glu434Asp)
c.3120G>C (p.Glu1040Asp)
18g.46524810C>TCA503809453LOXHD1c.1305G>A (p.Glu435=)
c.1017G>A (p.Glu339=)
c.4638G>A (p.Glu1546=)
n.3951G>A
c.4020G>A (p.Glu1340=)
c.1437G>A (p.Glu479=)
c.2799G>A (p.Glu933=)
c.1302G>A (p.Glu434=)
c.3120G>A (p.Glu1040=)
 ClinVar gnomAD v4
18g.46524811T>ACA402373342LOXHD1c.1304A>T (p.Glu435Val)
c.1016A>T (p.Glu339Val)
c.4637A>T (p.Glu1546Val)
n.3950A>T
c.4019A>T (p.Glu1340Val)
c.1436A>T (p.Glu479Val)
c.2798A>T (p.Glu933Val)
c.1301A>T (p.Glu434Val)
c.3119A>T (p.Glu1040Val)
18g.46524811T>CCA402373344LOXHD1c.1304A>G (p.Glu435Gly)
c.1016A>G (p.Glu339Gly)
c.4637A>G (p.Glu1546Gly)
n.3950A>G
c.4019A>G (p.Glu1340Gly)
c.1436A>G (p.Glu479Gly)
c.2798A>G (p.Glu933Gly)
c.1301A>G (p.Glu434Gly)
c.3119A>G (p.Glu1040Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.46524811T>GCA402373343LOXHD1c.1304A>C (p.Glu435Ala)
c.1016A>C (p.Glu339Ala)
c.4637A>C (p.Glu1546Ala)
n.3950A>C
c.4019A>C (p.Glu1340Ala)
c.1436A>C (p.Glu479Ala)
c.2798A>C (p.Glu933Ala)
c.1301A>C (p.Glu434Ala)
c.3119A>C (p.Glu1040Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.46524811T=CA2300872236LOXHD1c.1304A= (p.Glu435=)
c.1016A= (p.Glu339=)
c.4637A= (p.Glu1546=)
n.3950A=
c.4019A= (p.Glu1340=)
c.1436A= (p.Glu479=)
c.2798A= (p.Glu933=)
c.1301A= (p.Glu434=)
c.3119A= (p.Glu1040=)
18g.46524812C>ACA402373345LOXHD1c.1303G>T (p.Glu435Ter)
c.1015G>T (p.Glu339Ter)
c.4636G>T (p.Glu1546Ter)
n.3949G>T
c.4018G>T (p.Glu1340Ter)
c.1435G>T (p.Glu479Ter)
c.2797G>T (p.Glu933Ter)
c.1300G>T (p.Glu434Ter)
c.3118G>T (p.Glu1040Ter)
18g.46524812C=CA2300872237LOXHD1c.1303G= (p.Glu435=)
c.1015G= (p.Glu339=)
c.4636G= (p.Glu1546=)
n.3949G=
c.4018G= (p.Glu1340=)
c.1435G= (p.Glu479=)
c.2797G= (p.Glu933=)
c.1300G= (p.Glu434=)
c.3118G= (p.Glu1040=)
18g.46524812C>GCA402373347LOXHD1c.1303G>C (p.Glu435Gln)
c.1015G>C (p.Glu339Gln)
c.4636G>C (p.Glu1546Gln)
n.3949G>C
c.4018G>C (p.Glu1340Gln)
c.1435G>C (p.Glu479Gln)
c.2797G>C (p.Glu933Gln)
c.1300G>C (p.Glu434Gln)
c.3118G>C (p.Glu1040Gln)
18g.46524812C>TCA402373346LOXHD1c.1303G>A (p.Glu435Lys)
c.1015G>A (p.Glu339Lys)
c.4636G>A (p.Glu1546Lys)
n.3949G>A
c.4018G>A (p.Glu1340Lys)
c.1435G>A (p.Glu479Lys)
c.2797G>A (p.Glu933Lys)
c.1300G>A (p.Glu434Lys)
c.3118G>A (p.Glu1040Lys)
 dbSNP gnomAD v2
18g.46524813C>ACA503809454LOXHD1c.1302G>T (p.Val434=)
c.1014G>T (p.Val338=)
c.4635G>T (p.Val1545=)
n.3948G>T
c.4017G>T (p.Val1339=)
c.1434G>T (p.Val478=)
c.2796G>T (p.Val932=)
c.1299G>T (p.Val433=)
c.3117G>T (p.Val1039=)
18g.46524813C=CA2300872238LOXHD1c.1302G= (p.Val434=)
c.1014G= (p.Val338=)
c.4635G= (p.Val1545=)
n.3948G=
c.4017G= (p.Val1339=)
c.1434G= (p.Val478=)
c.2796G= (p.Val932=)
c.1299G= (p.Val433=)
c.3117G= (p.Val1039=)
18g.46524813C>GCA503809455LOXHD1c.1302G>C (p.Val434=)
c.1014G>C (p.Val338=)
c.4635G>C (p.Val1545=)
n.3948G>C
c.4017G>C (p.Val1339=)
c.1434G>C (p.Val478=)
c.2796G>C (p.Val932=)
c.1299G>C (p.Val433=)
c.3117G>C (p.Val1039=)
18g.46524813C>TCA8952318LOXHD1c.1302G>A (p.Val434=)
c.1014G>A (p.Val338=)
c.4635G>A (p.Val1545=)
n.3948G>A
c.4017G>A (p.Val1339=)
c.1434G>A (p.Val478=)
c.2796G>A (p.Val932=)
c.1299G>A (p.Val433=)
c.3117G>A (p.Val1039=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.46524814A>CCA402373348LOXHD1c.1301T>G (p.Val434Gly)
c.1013T>G (p.Val338Gly)
c.4634T>G (p.Val1545Gly)
n.3947T>G
c.4016T>G (p.Val1339Gly)
c.1433T>G (p.Val478Gly)
c.2795T>G (p.Val932Gly)
c.1298T>G (p.Val433Gly)
c.3116T>G (p.Val1039Gly)
18g.46524814A>GCA402373349LOXHD1c.1301T>C (p.Val434Ala)
c.1013T>C (p.Val338Ala)
c.4634T>C (p.Val1545Ala)
n.3947T>C
c.4016T>C (p.Val1339Ala)
c.1433T>C (p.Val478Ala)
c.2795T>C (p.Val932Ala)
c.1298T>C (p.Val433Ala)
c.3116T>C (p.Val1039Ala)
18g.46524814A>TCA402373350LOXHD1c.1301T>A (p.Val434Glu)
c.1013T>A (p.Val338Glu)
c.4634T>A (p.Val1545Glu)
n.3947T>A
c.4016T>A (p.Val1339Glu)
c.1433T>A (p.Val478Glu)
c.2795T>A (p.Val932Glu)
c.1298T>A (p.Val433Glu)
c.3116T>A (p.Val1039Glu)
18g.46524815C>ACA402373351LOXHD1c.1300G>T (p.Val434Leu)
c.1012G>T (p.Val338Leu)
c.4633G>T (p.Val1545Leu)
n.3946G>T
c.4015G>T (p.Val1339Leu)
c.1432G>T (p.Val478Leu)
c.2794G>T (p.Val932Leu)
c.1297G>T (p.Val433Leu)
c.3115G>T (p.Val1039Leu)
18g.46524815C=CA2300872239LOXHD1c.1300G= (p.Val434=)
c.1012G= (p.Val338=)
c.4633G= (p.Val1545=)
n.3946G=
c.4015G= (p.Val1339=)
c.1432G= (p.Val478=)
c.2794G= (p.Val932=)
c.1297G= (p.Val433=)
c.3115G= (p.Val1039=)
18g.46524815C>GCA402373352LOXHD1c.1300G>C (p.Val434Leu)
c.1012G>C (p.Val338Leu)
c.4633G>C (p.Val1545Leu)
n.3946G>C
c.4015G>C (p.Val1339Leu)
c.1432G>C (p.Val478Leu)
c.2794G>C (p.Val932Leu)
c.1297G>C (p.Val433Leu)
c.3115G>C (p.Val1039Leu)
18g.46524815C>TCA402373353LOXHD1c.1300G>A (p.Val434Met)
c.1012G>A (p.Val338Met)
c.4633G>A (p.Val1545Met)
n.3946G>A
c.4015G>A (p.Val1339Met)
c.1432G>A (p.Val478Met)
c.2794G>A (p.Val932Met)
c.1297G>A (p.Val433Met)
c.3115G>A (p.Val1039Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.46524816C>ACA402373354LOXHD1c.1299G>T (p.Lys433Asn)
c.1011G>T (p.Lys337Asn)
c.4632G>T (p.Lys1544Asn)
n.3945G>T
c.4014G>T (p.Lys1338Asn)
c.1431G>T (p.Lys477Asn)
c.2793G>T (p.Lys931Asn)
c.1296G>T (p.Lys432Asn)
c.3114G>T (p.Lys1038Asn)
18g.46524816C=CA2300872240LOXHD1c.1299G= (p.Lys433=)
c.1011G= (p.Lys337=)
c.4632G= (p.Lys1544=)
n.3945G=
c.4014G= (p.Lys1338=)
c.1431G= (p.Lys477=)
c.2793G= (p.Lys931=)
c.1296G= (p.Lys432=)
c.3114G= (p.Lys1038=)
18g.46524816C>GCA402373355LOXHD1c.1299G>C (p.Lys433Asn)
c.1011G>C (p.Lys337Asn)
c.4632G>C (p.Lys1544Asn)
n.3945G>C
c.4014G>C (p.Lys1338Asn)
c.1431G>C (p.Lys477Asn)
c.2793G>C (p.Lys931Asn)
c.1296G>C (p.Lys432Asn)
c.3114G>C (p.Lys1038Asn)
18g.46524816C>TCA299801843LOXHD1c.1299G>A (p.Lys433=)
c.1011G>A (p.Lys337=)
c.4632G>A (p.Lys1544=)
n.3945G>A
c.4014G>A (p.Lys1338=)
c.1431G>A (p.Lys477=)
c.2793G>A (p.Lys931=)
c.1296G>A (p.Lys432=)
c.3114G>A (p.Lys1038=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.46524817T>ACA402373358LOXHD1c.1298A>T (p.Lys433Met)
c.1010A>T (p.Lys337Met)
c.4631A>T (p.Lys1544Met)
n.3944A>T
c.4013A>T (p.Lys1338Met)
c.1430A>T (p.Lys477Met)
c.2792A>T (p.Lys931Met)
c.1295A>T (p.Lys432Met)
c.3113A>T (p.Lys1038Met)
18g.46524817T>CCA402373357LOXHD1c.1298A>G (p.Lys433Arg)
c.1010A>G (p.Lys337Arg)
c.4631A>G (p.Lys1544Arg)
n.3944A>G
c.4013A>G (p.Lys1338Arg)
c.1430A>G (p.Lys477Arg)
c.2792A>G (p.Lys931Arg)
c.1295A>G (p.Lys432Arg)
c.3113A>G (p.Lys1038Arg)
18g.46524817T>GCA402373356LOXHD1c.1298A>C (p.Lys433Thr)
c.1010A>C (p.Lys337Thr)
c.4631A>C (p.Lys1544Thr)
n.3944A>C
c.4013A>C (p.Lys1338Thr)
c.1430A>C (p.Lys477Thr)
c.2792A>C (p.Lys931Thr)
c.1295A>C (p.Lys432Thr)
c.3113A>C (p.Lys1038Thr)
18g.46524818T>ACA402373359LOXHD1c.1297A>T (p.Lys433Ter)
c.1009A>T (p.Lys337Ter)
c.4630A>T (p.Lys1544Ter)
n.3943A>T
c.4012A>T (p.Lys1338Ter)
c.1429A>T (p.Lys477Ter)
c.2791A>T (p.Lys931Ter)
c.1294A>T (p.Lys432Ter)
c.3112A>T (p.Lys1038Ter)
18g.46524818T>CCA402373360LOXHD1c.1297A>G (p.Lys433Glu)
c.1009A>G (p.Lys337Glu)
c.4630A>G (p.Lys1544Glu)
n.3943A>G
c.4012A>G (p.Lys1338Glu)
c.1429A>G (p.Lys477Glu)
c.2791A>G (p.Lys931Glu)
c.1294A>G (p.Lys432Glu)
c.3112A>G (p.Lys1038Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.46524818T>GCA402373361LOXHD1c.1297A>C (p.Lys433Gln)
c.1009A>C (p.Lys337Gln)
c.4630A>C (p.Lys1544Gln)
n.3943A>C
c.4012A>C (p.Lys1338Gln)
c.1429A>C (p.Lys477Gln)
c.2791A>C (p.Lys931Gln)
c.1294A>C (p.Lys432Gln)
c.3112A>C (p.Lys1038Gln)
18g.46524818T=CA2300872241LOXHD1c.1297A= (p.Lys433=)
c.1009A= (p.Lys337=)
c.4630A= (p.Lys1544=)
n.3943A=
c.4012A= (p.Lys1338=)
c.1429A= (p.Lys477=)
c.2791A= (p.Lys931=)
c.1294A= (p.Lys432=)
c.3112A= (p.Lys1038=)
18g.46524819C>ACA402373362LOXHD1c.1296G>T (p.Glu432Asp)
c.1008G>T (p.Glu336Asp)
c.4629G>T (p.Glu1543Asp)
n.3942G>T
c.4011G>T (p.Glu1337Asp)
c.1428G>T (p.Glu476Asp)
c.2790G>T (p.Glu930Asp)
c.1293G>T (p.Glu431Asp)
c.3111G>T (p.Glu1037Asp)
18g.46524819C>GCA402373363LOXHD1c.1296G>C (p.Glu432Asp)
c.1008G>C (p.Glu336Asp)
c.4629G>C (p.Glu1543Asp)
n.3942G>C
c.4011G>C (p.Glu1337Asp)
c.1428G>C (p.Glu476Asp)
c.2790G>C (p.Glu930Asp)
c.1293G>C (p.Glu431Asp)
c.3111G>C (p.Glu1037Asp)
18g.46524819C>TCA503809456LOXHD1c.1296G>A (p.Glu432=)
c.1008G>A (p.Glu336=)
c.4629G>A (p.Glu1543=)
n.3942G>A
c.4011G>A (p.Glu1337=)
c.1428G>A (p.Glu476=)
c.2790G>A (p.Glu930=)
c.1293G>A (p.Glu431=)
c.3111G>A (p.Glu1037=)
 ClinVar gnomAD v4
18g.46524820T>ACA402373364LOXHD1c.1295A>T (p.Glu432Val)
c.1007A>T (p.Glu336Val)
c.4628A>T (p.Glu1543Val)
n.3941A>T
c.4010A>T (p.Glu1337Val)
c.1427A>T (p.Glu476Val)
c.2789A>T (p.Glu930Val)
c.1292A>T (p.Glu431Val)
c.3110A>T (p.Glu1037Val)
18g.46524820T>CCA402373365LOXHD1c.1295A>G (p.Glu432Gly)
c.1007A>G (p.Glu336Gly)
c.4628A>G (p.Glu1543Gly)
n.3941A>G
c.4010A>G (p.Glu1337Gly)
c.1427A>G (p.Glu476Gly)
c.2789A>G (p.Glu930Gly)
c.1292A>G (p.Glu431Gly)
c.3110A>G (p.Glu1037Gly)
 gnomAD v4
18g.46524820T>GCA402373366LOXHD1c.1295A>C (p.Glu432Ala)
c.1007A>C (p.Glu336Ala)
c.4628A>C (p.Glu1543Ala)
n.3941A>C
c.4010A>C (p.Glu1337Ala)
c.1427A>C (p.Glu476Ala)
c.2789A>C (p.Glu930Ala)
c.1292A>C (p.Glu431Ala)
c.3110A>C (p.Glu1037Ala)
 dbSNP
18g.46524820T=CA2300872242LOXHD1c.1295A= (p.Glu432=)
c.1007A= (p.Glu336=)
c.4628A= (p.Glu1543=)
n.3941A=
c.4010A= (p.Glu1337=)
c.1427A= (p.Glu476=)
c.2789A= (p.Glu930=)
c.1292A= (p.Glu431=)
c.3110A= (p.Glu1037=)
18g.46524821C>ACA402373367LOXHD1c.1294G>T (p.Glu432Ter)
c.1006G>T (p.Glu336Ter)
c.4627G>T (p.Glu1543Ter)
n.3940G>T
c.4009G>T (p.Glu1337Ter)
c.1426G>T (p.Glu476Ter)
c.2788G>T (p.Glu930Ter)
c.1291G>T (p.Glu431Ter)
c.3109G>T (p.Glu1037Ter)
18g.46524821C>GCA402373368LOXHD1c.1294G>C (p.Glu432Gln)
c.1006G>C (p.Glu336Gln)
c.4627G>C (p.Glu1543Gln)
n.3940G>C
c.4009G>C (p.Glu1337Gln)
c.1426G>C (p.Glu476Gln)
c.2788G>C (p.Glu930Gln)
c.1291G>C (p.Glu431Gln)
c.3109G>C (p.Glu1037Gln)
18g.46524821C>TCA402373369LOXHD1c.1294G>A (p.Glu432Lys)
c.1006G>A (p.Glu336Lys)
c.4627G>A (p.Glu1543Lys)
n.3940G>A
c.4009G>A (p.Glu1337Lys)
c.1426G>A (p.Glu476Lys)
c.2788G>A (p.Glu930Lys)
c.1291G>A (p.Glu431Lys)
c.3109G>A (p.Glu1037Lys)
18g.46524822delCA2499225160LOXHD1c.1294del (p.Glu432ArgfsTer24)
c.1006del (p.Glu336ArgfsTer24)
c.4627del (p.Glu1543ArgfsTer24)
n.3940del
c.4009del (p.Glu1337ArgfsTer24)
c.1426del (p.Glu476ArgfsTer24)
c.2788del (p.Glu930ArgfsTer24)
c.1291del (p.Glu431ArgfsTer24)
c.3109del (p.Glu1037ArgfsTer24)
 ClinVar dbSNP
18g.46524822C>ACA503809457LOXHD1c.1293G>T (p.Val431=)
c.1005G>T (p.Val335=)
c.4626G>T (p.Val1542=)
n.3939G>T
c.4008G>T (p.Val1336=)
c.1425G>T (p.Val475=)
c.2787G>T (p.Val929=)
c.1290G>T (p.Val430=)
c.3108G>T (p.Val1036=)
18g.46524822C>GCA503809458LOXHD1c.1293G>C (p.Val431=)
c.1005G>C (p.Val335=)
c.4626G>C (p.Val1542=)
n.3939G>C
c.4008G>C (p.Val1336=)
c.1425G>C (p.Val475=)
c.2787G>C (p.Val929=)
c.1290G>C (p.Val430=)
c.3108G>C (p.Val1036=)
18g.46524822C>TCA503809459LOXHD1c.1293G>A (p.Val431=)
c.1005G>A (p.Val335=)
c.4626G>A (p.Val1542=)
n.3939G>A
c.4008G>A (p.Val1336=)
c.1425G>A (p.Val475=)
c.2787G>A (p.Val929=)
c.1290G>A (p.Val430=)
c.3108G>A (p.Val1036=)
18g.46524823A>CCA402373371LOXHD1c.1292T>G (p.Val431Gly)
c.1004T>G (p.Val335Gly)
c.4625T>G (p.Val1542Gly)
n.3938T>G
c.4007T>G (p.Val1336Gly)
c.1424T>G (p.Val475Gly)
c.2786T>G (p.Val929Gly)
c.1289T>G (p.Val430Gly)
c.3107T>G (p.Val1036Gly)
 gnomAD v4
18g.46524823A>GCA402373372LOXHD1c.1292T>C (p.Val431Ala)
c.1004T>C (p.Val335Ala)
c.4625T>C (p.Val1542Ala)
n.3938T>C
c.4007T>C (p.Val1336Ala)
c.1424T>C (p.Val475Ala)
c.2786T>C (p.Val929Ala)
c.1289T>C (p.Val430Ala)
c.3107T>C (p.Val1036Ala)
18g.46524823A>TCA402373370LOXHD1c.1292T>A (p.Val431Glu)
c.1004T>A (p.Val335Glu)
c.4625T>A (p.Val1542Glu)
n.3938T>A
c.4007T>A (p.Val1336Glu)
c.1424T>A (p.Val475Glu)
c.2786T>A (p.Val929Glu)
c.1289T>A (p.Val430Glu)
c.3107T>A (p.Val1036Glu)
18g.46524824C>ACA402373373LOXHD1c.1291G>T (p.Val431Leu)
c.1003G>T (p.Val335Leu)
c.4624G>T (p.Val1542Leu)
n.3937G>T
c.4006G>T (p.Val1336Leu)
c.1423G>T (p.Val475Leu)
c.2785G>T (p.Val929Leu)
c.1288G>T (p.Val430Leu)
c.3106G>T (p.Val1036Leu)
 gnomAD v4
18g.46524824C=CA2300872243LOXHD1c.1291G= (p.Val431=)
c.1003G= (p.Val335=)
c.4624G= (p.Val1542=)
n.3937G=
c.4006G= (p.Val1336=)
c.1423G= (p.Val475=)
c.2785G= (p.Val929=)
c.1288G= (p.Val430=)
c.3106G= (p.Val1036=)
18g.46524824C>GCA402373374LOXHD1c.1291G>C (p.Val431Leu)
c.1003G>C (p.Val335Leu)
c.4624G>C (p.Val1542Leu)
n.3937G>C
c.4006G>C (p.Val1336Leu)
c.1423G>C (p.Val475Leu)
c.2785G>C (p.Val929Leu)
c.1288G>C (p.Val430Leu)
c.3106G>C (p.Val1036Leu)
18g.46524824C>TCA402373375LOXHD1c.1291G>A (p.Val431Met)
c.1003G>A (p.Val335Met)
c.4624G>A (p.Val1542Met)
n.3937G>A
c.4006G>A (p.Val1336Met)
c.1423G>A (p.Val475Met)
c.2785G>A (p.Val929Met)
c.1288G>A (p.Val430Met)
c.3106G>A (p.Val1036Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.46524825G>ACA299801845LOXHD1c.1290C>T (p.Tyr430=)
c.1002C>T (p.Tyr334=)
c.4623C>T (p.Tyr1541=)
n.3936C>T
c.4005C>T (p.Tyr1335=)
c.1422C>T (p.Tyr474=)
c.2784C>T (p.Tyr928=)
c.1287C>T (p.Tyr429=)
c.3105C>T (p.Tyr1035=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.46524825G>CCA402373376LOXHD1c.1290C>G (p.Tyr430Ter)
c.1002C>G (p.Tyr334Ter)
c.4623C>G (p.Tyr1541Ter)
n.3936C>G
c.4005C>G (p.Tyr1335Ter)
c.1422C>G (p.Tyr474Ter)
c.2784C>G (p.Tyr928Ter)
c.1287C>G (p.Tyr429Ter)
c.3105C>G (p.Tyr1035Ter)
 dbSNP
18g.46524825G=CA2300872244LOXHD1c.1290C= (p.Tyr430=)
c.1002C= (p.Tyr334=)
c.4623C= (p.Tyr1541=)
n.3936C=
c.4005C= (p.Tyr1335=)
c.1422C= (p.Tyr474=)
c.2784C= (p.Tyr928=)
c.1287C= (p.Tyr429=)
c.3105C= (p.Tyr1035=)
18g.46524825G>TCA402373377LOXHD1c.1290C>A (p.Tyr430Ter)
c.1002C>A (p.Tyr334Ter)
c.4623C>A (p.Tyr1541Ter)
n.3936C>A
c.4005C>A (p.Tyr1335Ter)
c.1422C>A (p.Tyr474Ter)
c.2784C>A (p.Tyr928Ter)
c.1287C>A (p.Tyr429Ter)
c.3105C>A (p.Tyr1035Ter)
 gnomAD v4
18g.46524826T>ACA402373378LOXHD1c.1289A>T (p.Tyr430Phe)
c.1001A>T (p.Tyr334Phe)
c.4622A>T (p.Tyr1541Phe)
n.3935A>T
c.4004A>T (p.Tyr1335Phe)
c.1421A>T (p.Tyr474Phe)
c.2783A>T (p.Tyr928Phe)
c.1286A>T (p.Tyr429Phe)
c.3104A>T (p.Tyr1035Phe)
18g.46524826T>CCA402373379LOXHD1c.1289A>G (p.Tyr430Cys)
c.1001A>G (p.Tyr334Cys)
c.4622A>G (p.Tyr1541Cys)
n.3935A>G
c.4004A>G (p.Tyr1335Cys)
c.1421A>G (p.Tyr474Cys)
c.2783A>G (p.Tyr928Cys)
c.1286A>G (p.Tyr429Cys)
c.3104A>G (p.Tyr1035Cys)
 gnomAD v4
18g.46524826T>GCA402373380LOXHD1c.1289A>C (p.Tyr430Ser)
c.1001A>C (p.Tyr334Ser)
c.4622A>C (p.Tyr1541Ser)
n.3935A>C
c.4004A>C (p.Tyr1335Ser)
c.1421A>C (p.Tyr474Ser)
c.2783A>C (p.Tyr928Ser)
c.1286A>C (p.Tyr429Ser)
c.3104A>C (p.Tyr1035Ser)
18g.46524827A>CCA402373381LOXHD1c.1288T>G (p.Tyr430Asp)
c.1000T>G (p.Tyr334Asp)
c.4621T>G (p.Tyr1541Asp)
n.3934T>G
c.4003T>G (p.Tyr1335Asp)
c.1420T>G (p.Tyr474Asp)
c.2782T>G (p.Tyr928Asp)
c.1285T>G (p.Tyr429Asp)
c.3103T>G (p.Tyr1035Asp)
18g.46524827A>GCA402373382LOXHD1c.1288T>C (p.Tyr430His)
c.1000T>C (p.Tyr334His)
c.4621T>C (p.Tyr1541His)
n.3934T>C
c.4003T>C (p.Tyr1335His)
c.1420T>C (p.Tyr474His)
c.2782T>C (p.Tyr928His)
c.1285T>C (p.Tyr429His)
c.3103T>C (p.Tyr1035His)
18g.46524827A>TCA402373383LOXHD1c.1288T>A (p.Tyr430Asn)
c.1000T>A (p.Tyr334Asn)
c.4621T>A (p.Tyr1541Asn)
n.3934T>A
c.4003T>A (p.Tyr1335Asn)
c.1420T>A (p.Tyr474Asn)
c.2782T>A (p.Tyr928Asn)
c.1285T>A (p.Tyr429Asn)
c.3103T>A (p.Tyr1035Asn)
18g.46524828C>ACA402373385LOXHD1c.1287G>T (p.Trp429Cys)
c.999G>T (p.Trp333Cys)
c.4620G>T (p.Trp1540Cys)
n.3933G>T
c.4002G>T (p.Trp1334Cys)
c.1419G>T (p.Trp473Cys)
c.2781G>T (p.Trp927Cys)
c.1284G>T (p.Trp428Cys)
c.3102G>T (p.Trp1034Cys)
18g.46524828C=CA2300872245LOXHD1c.1287G= (p.Trp429=)
c.999G= (p.Trp333=)
c.4620G= (p.Trp1540=)
n.3933G=
c.4002G= (p.Trp1334=)
c.1419G= (p.Trp473=)
c.2781G= (p.Trp927=)
c.1284G= (p.Trp428=)
c.3102G= (p.Trp1034=)
18g.46524828C>GCA402373386LOXHD1c.1287G>C (p.Trp429Cys)
c.999G>C (p.Trp333Cys)
c.4620G>C (p.Trp1540Cys)
n.3933G>C
c.4002G>C (p.Trp1334Cys)
c.1419G>C (p.Trp473Cys)
c.2781G>C (p.Trp927Cys)
c.1284G>C (p.Trp428Cys)
c.3102G>C (p.Trp1034Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.46524828C>TCA402373384LOXHD1c.1287G>A (p.Trp429Ter)
c.999G>A (p.Trp333Ter)
c.4620G>A (p.Trp1540Ter)
n.3933G>A
c.4002G>A (p.Trp1334Ter)
c.1419G>A (p.Trp473Ter)
c.2781G>A (p.Trp927Ter)
c.1284G>A (p.Trp428Ter)
c.3102G>A (p.Trp1034Ter)
18g.46524829C>ACA402373387LOXHD1c.1286G>T (p.Trp429Leu)
c.998G>T (p.Trp333Leu)
c.4619G>T (p.Trp1540Leu)
n.3932G>T
c.4001G>T (p.Trp1334Leu)
c.1418G>T (p.Trp473Leu)
c.2780G>T (p.Trp927Leu)
c.1283G>T (p.Trp428Leu)
c.3101G>T (p.Trp1034Leu)
18g.46524829C>GCA402373388LOXHD1c.1286G>C (p.Trp429Ser)
c.998G>C (p.Trp333Ser)
c.4619G>C (p.Trp1540Ser)
n.3932G>C
c.4001G>C (p.Trp1334Ser)
c.1418G>C (p.Trp473Ser)
c.2780G>C (p.Trp927Ser)
c.1283G>C (p.Trp428Ser)
c.3101G>C (p.Trp1034Ser)
18g.46524829C>TCA402373389LOXHD1c.1286G>A (p.Trp429Ter)
c.998G>A (p.Trp333Ter)
c.4619G>A (p.Trp1540Ter)
n.3932G>A
c.4001G>A (p.Trp1334Ter)
c.1418G>A (p.Trp473Ter)
c.2780G>A (p.Trp927Ter)
c.1283G>A (p.Trp428Ter)
c.3101G>A (p.Trp1034Ter)
18g.46524830A>CCA402373390LOXHD1c.1285T>G (p.Trp429Gly)
c.997T>G (p.Trp333Gly)
c.4618T>G (p.Trp1540Gly)
n.3931T>G
c.4000T>G (p.Trp1334Gly)
c.1417T>G (p.Trp473Gly)
c.2779T>G (p.Trp927Gly)
c.1282T>G (p.Trp428Gly)
c.3100T>G (p.Trp1034Gly)
18g.46524830A>GCA402373391LOXHD1c.1285T>C (p.Trp429Arg)
c.997T>C (p.Trp333Arg)
c.4618T>C (p.Trp1540Arg)
n.3931T>C
c.4000T>C (p.Trp1334Arg)
c.1417T>C (p.Trp473Arg)
c.2779T>C (p.Trp927Arg)
c.1282T>C (p.Trp428Arg)
c.3100T>C (p.Trp1034Arg)
 gnomAD v4
18g.46524830A>TCA402373392LOXHD1c.1285T>A (p.Trp429Arg)
c.997T>A (p.Trp333Arg)
c.4618T>A (p.Trp1540Arg)
n.3931T>A
c.4000T>A (p.Trp1334Arg)
c.1417T>A (p.Trp473Arg)
c.2779T>A (p.Trp927Arg)
c.1282T>A (p.Trp428Arg)
c.3100T>A (p.Trp1034Arg)
18g.46524831G>ACA503809460LOXHD1c.1284C>T (p.Asp428=)
c.996C>T (p.Asp332=)
c.4617C>T (p.Asp1539=)
n.3930C>T
c.3999C>T (p.Asp1333=)
c.1416C>T (p.Asp472=)
c.2778C>T (p.Asp926=)
c.1281C>T (p.Asp427=)
c.3099C>T (p.Asp1033=)
18g.46524831G>CCA402373393LOXHD1c.1284C>G (p.Asp428Glu)
c.996C>G (p.Asp332Glu)
c.4617C>G (p.Asp1539Glu)
n.3930C>G
c.3999C>G (p.Asp1333Glu)
c.1416C>G (p.Asp472Glu)
c.2778C>G (p.Asp926Glu)
c.1281C>G (p.Asp427Glu)
c.3099C>G (p.Asp1033Glu)
 gnomAD v4
18g.46524831G>TCA402373394LOXHD1c.1284C>A (p.Asp428Glu)
c.996C>A (p.Asp332Glu)
c.4617C>A (p.Asp1539Glu)
n.3930C>A
c.3999C>A (p.Asp1333Glu)
c.1416C>A (p.Asp472Glu)
c.2778C>A (p.Asp926Glu)
c.1281C>A (p.Asp427Glu)
c.3099C>A (p.Asp1033Glu)
18g.46524832T>ACA402373395LOXHD1c.1283A>T (p.Asp428Val)
c.995A>T (p.Asp332Val)
c.4616A>T (p.Asp1539Val)
n.3929A>T
c.3998A>T (p.Asp1333Val)
c.1415A>T (p.Asp472Val)
c.2777A>T (p.Asp926Val)
c.1280A>T (p.Asp427Val)
c.3098A>T (p.Asp1033Val)
18g.46524832T>CCA402373396LOXHD1c.1283A>G (p.Asp428Gly)
c.995A>G (p.Asp332Gly)
c.4616A>G (p.Asp1539Gly)
n.3929A>G
c.3998A>G (p.Asp1333Gly)
c.1415A>G (p.Asp472Gly)
c.2777A>G (p.Asp926Gly)
c.1280A>G (p.Asp427Gly)
c.3098A>G (p.Asp1033Gly)
18g.46524832T>GCA402373397LOXHD1c.1283A>C (p.Asp428Ala)
c.995A>C (p.Asp332Ala)
c.4616A>C (p.Asp1539Ala)
n.3929A>C
c.3998A>C (p.Asp1333Ala)
c.1415A>C (p.Asp472Ala)
c.2777A>C (p.Asp926Ala)
c.1280A>C (p.Asp427Ala)
c.3098A>C (p.Asp1033Ala)
18g.46524833C>ACA402373398LOXHD1c.1282G>T (p.Asp428Tyr)
c.994G>T (p.Asp332Tyr)
c.4615G>T (p.Asp1539Tyr)
n.3928G>T
c.3997G>T (p.Asp1333Tyr)
c.1414G>T (p.Asp472Tyr)
c.2776G>T (p.Asp926Tyr)
c.1279G>T (p.Asp427Tyr)
c.3097G>T (p.Asp1033Tyr)
 gnomAD v4
18g.46524833C>GCA402373399LOXHD1c.1282G>C (p.Asp428His)
c.994G>C (p.Asp332His)
c.4615G>C (p.Asp1539His)
n.3928G>C
c.3997G>C (p.Asp1333His)
c.1414G>C (p.Asp472His)
c.2776G>C (p.Asp926His)
c.1279G>C (p.Asp427His)
c.3097G>C (p.Asp1033His)
18g.46524833C>TCA402373400LOXHD1c.1282G>A (p.Asp428Asn)
c.994G>A (p.Asp332Asn)
c.4615G>A (p.Asp1539Asn)
n.3928G>A
c.3997G>A (p.Asp1333Asn)
c.1414G>A (p.Asp472Asn)
c.2776G>A (p.Asp926Asn)
c.1279G>A (p.Asp427Asn)
c.3097G>A (p.Asp1033Asn)
18g.46524834T>ACA503809461LOXHD1c.1281A>T (p.Ala427=)
c.993A>T (p.Ala331=)
c.4614A>T (p.Ala1538=)
n.3927A>T
c.3996A>T (p.Ala1332=)
c.1413A>T (p.Ala471=)
c.2775A>T (p.Ala925=)
c.1278A>T (p.Ala426=)
c.3096A>T (p.Ala1032=)
18g.46524834T>CCA503809463LOXHD1c.1281A>G (p.Ala427=)
c.993A>G (p.Ala331=)
c.4614A>G (p.Ala1538=)
n.3927A>G
c.3996A>G (p.Ala1332=)
c.1413A>G (p.Ala471=)
c.2775A>G (p.Ala925=)
c.1278A>G (p.Ala426=)
c.3096A>G (p.Ala1032=)
18g.46524834T>GCA503809462LOXHD1c.1281A>C (p.Ala427=)
c.993A>C (p.Ala331=)
c.4614A>C (p.Ala1538=)
n.3927A>C
c.3996A>C (p.Ala1332=)
c.1413A>C (p.Ala471=)
c.2775A>C (p.Ala925=)
c.1278A>C (p.Ala426=)
c.3096A>C (p.Ala1032=)

Number of alleles fetched