| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.46524734G>A | CA259968 | LOXHD1 | c.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 |
| 18 | g.46524734G>C | CA402373167 | LOXHD1 | c.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) | |
| 18 | g.46524734G= | CA2300872200 | LOXHD1 | c.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=) | |
| 18 | g.46524734G>T | CA142226 | LOXHD1 | c.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 |
| 18 | g.46524734_46524735insGTTGT | CA2641674653 | LOXHD1 | c.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 |
| 18 | g.46524735C>A | CA503809415 | LOXHD1 | c.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=) | |
| 18 | g.46524735C>G | CA503809417 | LOXHD1 | c.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=) | |
| 18 | g.46524735C>T | CA503809416 | LOXHD1 | c.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=) | |
| 18 | g.46524735_46524736insACACTCTTATGTTTAAGAGAACTGACTATGAAAGTAGTGCATTCAAATGTTTGATAGG | CA2641674654 | LOXHD1 | c.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 |
| 18 | g.46524736C>A | CA402373168 | LOXHD1 | c.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) | |
| 18 | g.46524736C>G | CA402373169 | LOXHD1 | c.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) | |
| 18 | g.46524736C>T | CA402373170 | LOXHD1 | c.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) | |
| 18 | g.46524737C>A | CA402373171 | LOXHD1 | c.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 |
| 18 | g.46524737C= | CA2300872201 | LOXHD1 | c.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=) | |
| 18 | g.46524737C>G | CA402373172 | LOXHD1 | c.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) | |
| 18 | g.46524737C>T | CA402373173 | LOXHD1 | c.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 |
| 18 | g.46524738A= | CA2300872202 | LOXHD1 | c.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=) | |
| 18 | g.46524738A>C | CA402373174 | LOXHD1 | c.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) | |
| 18 | g.46524738A>G | CA503809418 | LOXHD1 | c.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 |
| 18 | g.46524738A>T | CA402373175 | LOXHD1 | c.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) | |
| 18 | g.46524739T>A | CA402373176 | LOXHD1 | c.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 |
| 18 | g.46524739T>C | CA402373177 | LOXHD1 | c.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) | |
| 18 | g.46524739T>G | CA402373178 | LOXHD1 | c.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) | |
| 18 | g.46524740C>A | CA402373180 | LOXHD1 | c.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 |
| 18 | g.46524740C= | CA2300872203 | LOXHD1 | c.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=) | |
| 18 | g.46524740C>G | CA402373179 | LOXHD1 | c.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) | |
| 18 | g.46524740C>T | CA299801807 | LOXHD1 | c.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 |
| 18 | g.46524741C>A | CA402373181 | LOXHD1 | c.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) | |
| 18 | g.46524741C>G | CA402373182 | LOXHD1 | c.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 |
| 18 | g.46524741C>T | CA503809419 | LOXHD1 | c.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=) | |
| 18 | g.46524742T>A | CA402373183 | LOXHD1 | c.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) | |
| 18 | g.46524742T>C | CA402373184 | LOXHD1 | c.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) | |
| 18 | g.46524742T>G | CA402373185 | LOXHD1 | c.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) | |
| 18 | g.46524743C>A | CA402373186 | LOXHD1 | c.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) | |
| 18 | g.46524743C>G | CA402373187 | LOXHD1 | c.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) | |
| 18 | g.46524743C>T | CA402373188 | LOXHD1 | c.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) | |
| 18 | g.46524743_46524746delinsCCTT | CA2300872204 | LOXHD1 | c.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=) | |
| 18 | g.46524744C>A | CA402373189 | LOXHD1 | c.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 |
| 18 | g.46524744C= | CA2300872205 | LOXHD1 | c.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=) | |
| 18 | g.46524744C>G | CA402373190 | LOXHD1 | c.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) | |
| 18 | g.46524744C>T | CA503809420 | LOXHD1 | c.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 |
| 18 | g.46524748_46524750del | CA779800946 | LOXHD1 | c.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 |
| 18 | g.46524745T>A | CA402373192 | LOXHD1 | c.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) | |
| 18 | g.46524745T>C | CA402373193 | LOXHD1 | c.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) | |
| 18 | g.46524745T>G | CA402373191 | LOXHD1 | c.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) | |
| 18 | g.46524746T>A | CA402373194 | LOXHD1 | c.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) | |
| 18 | g.46524746T>C | CA402373195 | LOXHD1 | c.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 |
| 18 | g.46524746T>G | CA402373196 | LOXHD1 | c.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) | |
| 18 | g.46524746T= | CA2300872206 | LOXHD1 | c.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=) | |
| 18 | g.46524747C>A | CA402373197 | LOXHD1 | c.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) |