Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
18 | g.46524747C= | CA2300872207 | LOXHD1 | c.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=) | |
18 | g.46524747C>G | CA402373198 | LOXHD1 | c.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) | |
18 | g.46524747C>T | CA503809421 | LOXHD1 | c.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 |
18 | g.46524748T>A | CA402373199 | LOXHD1 | c.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) | |
18 | g.46524748T>C | CA402373200 | LOXHD1 | c.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) | |
18 | g.46524748T>G | CA402373201 | LOXHD1 | c.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) | |
18 | g.46524749T>A | CA402373202 | LOXHD1 | c.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) | |
18 | g.46524749T>C | CA402373203 | LOXHD1 | c.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) | |
18 | g.46524749T>G | CA402373204 | LOXHD1 | c.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) | |
18 | g.46524750C>A | CA503809422 | LOXHD1 | c.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=) | |
18 | g.46524750C>G | CA503809424 | LOXHD1 | c.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=) | |
18 | g.46524750C>T | CA503809423 | LOXHD1 | c.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 |
18 | g.46524751A>C | CA402373205 | LOXHD1 | c.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) | |
18 | g.46524751A>G | CA402373206 | LOXHD1 | c.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) | |
18 | g.46524751A>T | CA402373207 | LOXHD1 | c.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) | |
18 | g.46524752G>A | CA503809425 | LOXHD1 | c.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=) | |
18 | g.46524752G>C | CA402373208 | LOXHD1 | c.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) | |
18 | g.46524752G>T | CA402373209 | LOXHD1 | c.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) | |
18 | g.46524753G>A | CA503809426 | LOXHD1 | c.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=) | |
18 | g.46524753G>C | CA503809427 | LOXHD1 | c.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=) | |
18 | g.46524753G>T | CA503809428 | LOXHD1 | c.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=) | |
18 | g.46524754G>A | CA402373210 | LOXHD1 | c.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) | |
18 | g.46524754G>C | CA402373211 | LOXHD1 | c.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) | |
18 | g.46524754G>T | CA402373212 | LOXHD1 | c.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 |
18 | g.46524755A>C | CA402373213 | LOXHD1 | c.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) | |
18 | g.46524755A>G | CA402373214 | LOXHD1 | c.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) | |
18 | g.46524755A>T | CA402373215 | LOXHD1 | c.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) | |
18 | g.46524756G>A | CA503809429 | LOXHD1 | c.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 |
18 | g.46524756G>C | CA503809431 | LOXHD1 | c.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 |
18 | g.46524756G= | CA2300872208 | LOXHD1 | c.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=) | |
18 | g.46524756G>T | CA503809430 | LOXHD1 | c.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 |
18 | g.46524757A= | CA2300872209 | LOXHD1 | c.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=) | |
18 | g.46524757A>C | CA402373216 | LOXHD1 | c.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) | |
18 | g.46524757A>G | CA402373217 | LOXHD1 | c.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 |
18 | g.46524757A>T | CA402373218 | LOXHD1 | c.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) | |
18 | g.46524758G>A | CA8952310 | LOXHD1 | c.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 |
18 | g.46524758G>C | CA402373219 | LOXHD1 | c.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 |
18 | g.46524758G= | CA2300872210 | LOXHD1 | c.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=) | |
18 | g.46524758G>T | CA402373220 | LOXHD1 | c.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 |
18 | g.46524759C>A | CA402373223 | LOXHD1 | c.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) | |
18 | g.46524759C= | CA2300872211 | LOXHD1 | c.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=) | |
18 | g.46524759C>G | CA402373222 | LOXHD1 | c.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 |
18 | g.46524759C>T | CA402373221 | LOXHD1 | c.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 |
18 | g.46524760C>A | CA402373224 | LOXHD1 | c.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) | |
18 | g.46524760C>G | CA402373226 | LOXHD1 | c.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) | |
18 | g.46524760C>T | CA402373225 | LOXHD1 | c.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) | |
18 | g.46524761A>C | CA402373227 | LOXHD1 | c.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) | |
18 | g.46524761A>G | CA402373229 | LOXHD1 | c.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) | |
18 | g.46524761A>T | CA402373228 | LOXHD1 | c.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) | |
18 | g.46524762G>A | CA8952311 | LOXHD1 | c.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 |
18 | g.46524762G>C | CA503809432 | LOXHD1 | c.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=) | |
18 | g.46524762G= | CA2300872212 | LOXHD1 | c.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=) | |
18 | g.46524762G>T | CA503809433 | LOXHD1 | c.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 |
18 | g.46524763C>A | CA402373230 | LOXHD1 | c.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) | |
18 | g.46524763C= | CA2300872213 | LOXHD1 | c.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=) | |
18 | g.46524763C>G | CA402373231 | LOXHD1 | c.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) | |
18 | g.46524763C>T | CA402373232 | LOXHD1 | c.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 |
18 | g.46524764G>A | CA299801819 | LOXHD1 | c.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 |
18 | g.46524764G>C | CA402373233 | LOXHD1 | c.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) | |
18 | g.46524764G= | CA2300872214 | LOXHD1 | c.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=) | |
18 | g.46524764G>T | CA402373234 | LOXHD1 | c.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 |
18 | g.46524765C>A | CA503809436 | LOXHD1 | c.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=) | |
18 | g.46524765C>G | CA503809434 | LOXHD1 | c.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=) | |
18 | g.46524765C>T | CA503809435 | LOXHD1 | c.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 |
18 | g.46524767dup | CA658824185 | LOXHD1 | c.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 |
18 | g.46524766C>A | CA402373235 | LOXHD1 | c.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) | |
18 | g.46524766C>G | CA402373236 | LOXHD1 | c.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) | |
18 | g.46524766C>T | CA402373237 | LOXHD1 | c.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) | |
18 | g.46524767C>A | CA402373238 | LOXHD1 | c.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) | |
18 | g.46524767C= | CA2300872215 | LOXHD1 | c.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=) | |
18 | g.46524767C>G | CA402373239 | LOXHD1 | c.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) | |
18 | g.46524767C>T | CA8952312 | LOXHD1 | c.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 |
18 | g.46524768G>A | CA142224 | LOXHD1 | c.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 |
18 | g.46524768G>C | CA402373241 | LOXHD1 | c.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) | |
18 | g.46524768G= | CA2300872216 | LOXHD1 | c.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=) | |
18 | g.46524768G>T | CA402373240 | LOXHD1 | c.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 |
18 | g.46524769C>A | CA402373242 | LOXHD1 | c.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) | |
18 | g.46524769C>G | CA402373243 | LOXHD1 | c.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) | |
18 | g.46524769C>T | CA402373244 | LOXHD1 | c.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 |
18 | g.46524770A= | CA2300872217 | LOXHD1 | c.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=) | |
18 | g.46524770A>C | CA402373245 | LOXHD1 | c.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) | |
18 | g.46524770A>G | CA402373246 | LOXHD1 | c.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 |
18 | g.46524770A>T | CA402373247 | LOXHD1 | c.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 |
18 | g.46524771T>A | CA503809437 | LOXHD1 | c.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 |
18 | g.46524771T>C | CA8952313 | LOXHD1 | c.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 |
18 | g.46524771T>G | CA503809438 | LOXHD1 | c.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=) | |
18 | g.46524771T= | CA2300872218 | LOXHD1 | c.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=) | |
18 | g.46524772A>C | CA402373248 | LOXHD1 | c.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) | |
18 | g.46524772A>G | CA402373249 | LOXHD1 | c.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) | |
18 | g.46524772A>T | CA402373250 | LOXHD1 | c.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) | |
18 | g.46524773G>A | CA503809439 | LOXHD1 | c.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=) | |
18 | g.46524773G>C | CA299801828 | LOXHD1 | c.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 |
18 | g.46524773G= | CA2300872219 | LOXHD1 | c.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=) | |
18 | g.46524773G>T | CA402373251 | LOXHD1 | c.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) | |
18 | g.46524774G>A | CA503809440 | LOXHD1 | c.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 |
18 | g.46524774G>C | CA402373252 | LOXHD1 | c.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) | |
18 | g.46524774G= | CA2300872220 | LOXHD1 | c.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=) | |
18 | g.46524774G>T | CA402373253 | LOXHD1 | c.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) | |
18 | g.46524775A>C | CA402373256 | LOXHD1 | c.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) | |
18 | g.46524775A>G | CA402373255 | LOXHD1 | c.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) | |
18 | g.46524775A>T | CA402373254 | LOXHD1 | c.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) | |
18 | g.46524776A>C | CA402373257 | LOXHD1 | c.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) | |
18 | g.46524776A>G | CA402373258 | LOXHD1 | c.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) | |
18 | g.46524776A>T | CA402373259 | LOXHD1 | c.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) | |
18 | g.46524777C>A | CA503809441 | LOXHD1 | c.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 |
18 | g.46524777C= | CA2300872221 | LOXHD1 | c.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=) | |
18 | g.46524777C>G | CA503809442 | LOXHD1 | c.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 |
18 | g.46524777C>T | CA8952314 | LOXHD1 | c.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 |
18 | g.46524778A>C | CA402373260 | LOXHD1 | c.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) | |
18 | g.46524778A>G | CA402373261 | LOXHD1 | c.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) | |
18 | g.46524778A>T | CA402373262 | LOXHD1 | c.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) | |
18 | g.46524779G>A | CA503809443 | LOXHD1 | c.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 |
18 | g.46524779G>C | CA402373263 | LOXHD1 | c.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) | |
18 | g.46524779G= | CA2300872222 | LOXHD1 | c.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=) | |
18 | g.46524779G>T | CA402373264 | LOXHD1 | c.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) | |
18 | g.46524780G>A | CA503809444 | LOXHD1 | c.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 |
18 | g.46524780G>C | CA402373265 | LOXHD1 | c.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) | |
18 | g.46524780G>T | CA402373266 | LOXHD1 | c.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 |
18 | g.46524781A>C | CA402373267 | LOXHD1 | c.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) | |
18 | g.46524781A>G | CA402373268 | LOXHD1 | c.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) | |
18 | g.46524781A>T | CA402373269 | LOXHD1 | c.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) | |
18 | g.46524782A>C | CA402373270 | LOXHD1 | c.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) | |
18 | g.46524782A>G | CA402373272 | LOXHD1 | c.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) | |
18 | g.46524782A>T | CA402373271 | LOXHD1 | c.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 |
18 | g.46524783C>A | CA402373273 | LOXHD1 | c.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) | |
18 | g.46524783C= | CA2300872223 | LOXHD1 | c.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=) | |
18 | g.46524783C>G | CA402373274 | LOXHD1 | c.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 |
18 | g.46524783C>T | CA503809445 | LOXHD1 | c.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 |
18 | g.46524784T>A | CA402373275 | LOXHD1 | c.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) | |
18 | g.46524784T>C | CA402373276 | LOXHD1 | c.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 |
18 | g.46524784T>G | CA402373277 | LOXHD1 | c.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) | |
18 | g.46524785C>A | CA402373278 | LOXHD1 | c.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 |
18 | g.46524785C= | CA2300872224 | LOXHD1 | c.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=) | |
18 | g.46524785C>G | CA402373279 | LOXHD1 | c.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) | |
18 | g.46524785C>T | CA402373280 | LOXHD1 | c.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 |
18 | g.46524786G>A | CA8952315 | LOXHD1 | c.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 |
18 | g.46524786G>C | CA402373281 | LOXHD1 | c.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 |
18 | g.46524786G= | CA2300872225 | LOXHD1 | c.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=) | |
18 | g.46524786G>T | CA402373282 | LOXHD1 | c.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 |
18 | g.46524787T>A | CA402373283 | LOXHD1 | c.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) | |
18 | g.46524787T>C | CA402373285 | LOXHD1 | c.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) | |
18 | g.46524787T>G | CA402373284 | LOXHD1 | c.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) | |
18 | g.46524788C>A | CA402373286 | LOXHD1 | c.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) | |
18 | g.46524788C>G | CA402373288 | LOXHD1 | c.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) | |
18 | g.46524788C>T | CA402373287 | LOXHD1 | c.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) | |
18 | g.46524789C>A | CA402373289 | LOXHD1 | c.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) | |
18 | g.46524789C>G | CA402373290 | LOXHD1 | c.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) | |
18 | g.46524789C>T | CA503809446 | LOXHD1 | c.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=) | |
18 | g.46524790T>A | CA402373291 | LOXHD1 | c.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) | |
18 | g.46524790T>C | CA402373292 | LOXHD1 | c.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) | |
18 | g.46524790T>G | CA402373293 | LOXHD1 | c.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 |
18 | g.46524791C>A | CA402373294 | LOXHD1 | c.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) | |
18 | g.46524791C= | CA2300872226 | LOXHD1 | c.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=) | |
18 | g.46524791C>G | CA402373295 | LOXHD1 | c.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) | |
18 | g.46524791C>T | CA8952316 | LOXHD1 | c.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 |
18 | g.46524792G>A | CA8952317 | LOXHD1 | c.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 |
18 | g.46524792G>C | CA402373296 | LOXHD1 | c.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 |
18 | g.46524792G= | CA2300872227 | LOXHD1 | c.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=) | |
18 | g.46524792G>T | CA402373297 | LOXHD1 | c.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) | |
18 | g.46524793T>A | CA402373300 | LOXHD1 | c.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) | |
18 | g.46524793T>C | CA402373299 | LOXHD1 | c.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 |
18 | g.46524793T>G | CA402373298 | LOXHD1 | c.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) | |
18 | g.46524793T= | CA2300872228 | LOXHD1 | c.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=) | |
18 | g.46524794T>A | CA402373301 | LOXHD1 | c.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) | |
18 | g.46524794T>C | CA402373302 | LOXHD1 | c.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) | |
18 | g.46524794T>G | CA402373303 | LOXHD1 | c.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 |
18 | g.46524794T= | CA2300872229 | LOXHD1 | c.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=) | |
18 | g.46524795G>A | CA503809447 | LOXHD1 | c.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 |
18 | g.46524795G>C | CA299801833 | LOXHD1 | c.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 |
18 | g.46524795G= | CA2300872230 | LOXHD1 | c.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=) | |
18 | g.46524795G>T | CA503809448 | LOXHD1 | c.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=) | |
18 | g.46524796G>A | CA402373304 | LOXHD1 | c.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) | |
18 | g.46524796G>C | CA402373305 | LOXHD1 | c.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) | |
18 | g.46524796G>T | CA402373306 | LOXHD1 | c.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) | |
18 | g.46524797T>A | CA402373307 | LOXHD1 | c.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) | |
18 | g.46524797T>C | CA402373308 | LOXHD1 | c.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) | |
18 | g.46524797T>G | CA402373309 | LOXHD1 | c.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) | |
18 | g.46524798G>A | CA503809449 | LOXHD1 | c.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 |
18 | g.46524798G>C | CA402373310 | LOXHD1 | c.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) | |
18 | g.46524798G>T | CA402373311 | LOXHD1 | c.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) | |
18 | g.46524799T>A | CA402373314 | LOXHD1 | c.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) | |
18 | g.46524799T>C | CA402373313 | LOXHD1 | c.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) | |
18 | g.46524799T>G | CA402373312 | LOXHD1 | c.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) | |
18 | g.46524800C>A | CA402373315 | LOXHD1 | c.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) | |
18 | g.46524800C>G | CA402373316 | LOXHD1 | c.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) | |
18 | g.46524800C>T | CA402373317 | LOXHD1 | c.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) | |
18 | g.46524801A= | CA2300872231 | LOXHD1 | c.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=) | |
18 | g.46524801A>C | CA402373318 | LOXHD1 | c.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) | |
18 | g.46524801A>G | CA503809450 | LOXHD1 | c.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 |
18 | g.46524801A>T | CA402373319 | LOXHD1 | c.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) | |
18 | g.46524802T>A | CA402373320 | LOXHD1 | c.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) | |
18 | g.46524802T>C | CA402373321 | LOXHD1 | c.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 |
18 | g.46524802T>G | CA402373322 | LOXHD1 | c.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) | |
18 | g.46524802T= | CA2300872232 | LOXHD1 | c.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=) | |
18 | g.46524803T>A | CA402373323 | LOXHD1 | c.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) | |
18 | g.46524803T>C | CA402373324 | LOXHD1 | c.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 |
18 | g.46524803T>G | CA402373325 | LOXHD1 | c.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) | |
18 | g.46524803T= | CA2300872233 | LOXHD1 | c.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=) | |
18 | g.46524804C>A | CA402373328 | LOXHD1 | c.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) | |
18 | g.46524804C>G | CA402373327 | LOXHD1 | c.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 |
18 | g.46524804C>T | CA402373326 | LOXHD1 | c.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) | |
18 | g.46524805C>A | CA402373329 | LOXHD1 | c.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 |
18 | g.46524805C>G | CA402373330 | LOXHD1 | c.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) | |
18 | g.46524805C>T | CA402373331 | LOXHD1 | c.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) | |
18 | g.46524806A>C | CA402373332 | LOXHD1 | c.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) | |
18 | g.46524806A>G | CA402373333 | LOXHD1 | c.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 |
18 | g.46524806A>T | CA402373334 | LOXHD1 | c.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) | |
18 | g.46524807G>A | CA503809452 | LOXHD1 | c.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=) | |
18 | g.46524807G>C | CA402373335 | LOXHD1 | c.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) | |
18 | g.46524807G>T | CA503809451 | LOXHD1 | c.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=) | |
18 | g.46524808A= | CA2300872234 | LOXHD1 | c.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=) | |
18 | g.46524808A>C | CA402373336 | LOXHD1 | c.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) | |
18 | g.46524808A>G | CA299801835 | LOXHD1 | c.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 |
18 | g.46524808A>T | CA402373337 | LOXHD1 | c.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 |
18 | g.46524809T>A | CA402373338 | LOXHD1 | c.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) | |
18 | g.46524809T>C | CA402373339 | LOXHD1 | c.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) | |
18 | g.46524809T>G | CA299801837 | LOXHD1 | c.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 |
18 | g.46524809T= | CA2300872235 | LOXHD1 | c.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=) | |
18 | g.46524810C>A | CA402373340 | LOXHD1 | c.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) | |
18 | g.46524810C>G | CA402373341 | LOXHD1 | c.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) | |
18 | g.46524810C>T | CA503809453 | LOXHD1 | c.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 |
18 | g.46524811T>A | CA402373342 | LOXHD1 | c.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) | |
18 | g.46524811T>C | CA402373344 | LOXHD1 | c.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 |
18 | g.46524811T>G | CA402373343 | LOXHD1 | c.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 |
18 | g.46524811T= | CA2300872236 | LOXHD1 | c.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=) | |
18 | g.46524812C>A | CA402373345 | LOXHD1 | c.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) | |
18 | g.46524812C= | CA2300872237 | LOXHD1 | c.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=) | |
18 | g.46524812C>G | CA402373347 | LOXHD1 | c.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) | |
18 | g.46524812C>T | CA402373346 | LOXHD1 | c.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 |
18 | g.46524813C>A | CA503809454 | LOXHD1 | c.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=) | |
18 | g.46524813C= | CA2300872238 | LOXHD1 | c.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=) | |
18 | g.46524813C>G | CA503809455 | LOXHD1 | c.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=) | |
18 | g.46524813C>T | CA8952318 | LOXHD1 | c.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 |
18 | g.46524814A>C | CA402373348 | LOXHD1 | c.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) | |
18 | g.46524814A>G | CA402373349 | LOXHD1 | c.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) | |
18 | g.46524814A>T | CA402373350 | LOXHD1 | c.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) | |
18 | g.46524815C>A | CA402373351 | LOXHD1 | c.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) | |
18 | g.46524815C= | CA2300872239 | LOXHD1 | c.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=) | |
18 | g.46524815C>G | CA402373352 | LOXHD1 | c.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) | |
18 | g.46524815C>T | CA402373353 | LOXHD1 | c.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 |
18 | g.46524816C>A | CA402373354 | LOXHD1 | c.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) | |
18 | g.46524816C= | CA2300872240 | LOXHD1 | c.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=) | |
18 | g.46524816C>G | CA402373355 | LOXHD1 | c.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) | |
18 | g.46524816C>T | CA299801843 | LOXHD1 | c.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 |
18 | g.46524817T>A | CA402373358 | LOXHD1 | c.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) | |
18 | g.46524817T>C | CA402373357 | LOXHD1 | c.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) | |
18 | g.46524817T>G | CA402373356 | LOXHD1 | c.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) | |
18 | g.46524818T>A | CA402373359 | LOXHD1 | c.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) | |
18 | g.46524818T>C | CA402373360 | LOXHD1 | c.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 |
18 | g.46524818T>G | CA402373361 | LOXHD1 | c.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) | |
18 | g.46524818T= | CA2300872241 | LOXHD1 | c.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=) | |
18 | g.46524819C>A | CA402373362 | LOXHD1 | c.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) | |
18 | g.46524819C>G | CA402373363 | LOXHD1 | c.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) | |
18 | g.46524819C>T | CA503809456 | LOXHD1 | c.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 |
18 | g.46524820T>A | CA402373364 | LOXHD1 | c.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) | |
18 | g.46524820T>C | CA402373365 | LOXHD1 | c.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 |
18 | g.46524820T>G | CA402373366 | LOXHD1 | c.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 |
18 | g.46524820T= | CA2300872242 | LOXHD1 | c.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=) | |
18 | g.46524821C>A | CA402373367 | LOXHD1 | c.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) | |
18 | g.46524821C>G | CA402373368 | LOXHD1 | c.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) | |
18 | g.46524821C>T | CA402373369 | LOXHD1 | c.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) | |
18 | g.46524822del | CA2499225160 | LOXHD1 | c.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 |
18 | g.46524822C>A | CA503809457 | LOXHD1 | c.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=) | |
18 | g.46524822C>G | CA503809458 | LOXHD1 | c.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=) | |
18 | g.46524822C>T | CA503809459 | LOXHD1 | c.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=) | |
18 | g.46524823A>C | CA402373371 | LOXHD1 | c.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 |
18 | g.46524823A>G | CA402373372 | LOXHD1 | c.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) | |
18 | g.46524823A>T | CA402373370 | LOXHD1 | c.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) | |
18 | g.46524824C>A | CA402373373 | LOXHD1 | c.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 |
18 | g.46524824C= | CA2300872243 | LOXHD1 | c.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=) | |
18 | g.46524824C>G | CA402373374 | LOXHD1 | c.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) | |
18 | g.46524824C>T | CA402373375 | LOXHD1 | c.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 |
18 | g.46524825G>A | CA299801845 | LOXHD1 | c.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 |
18 | g.46524825G>C | CA402373376 | LOXHD1 | c.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 |
18 | g.46524825G= | CA2300872244 | LOXHD1 | c.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=) | |
18 | g.46524825G>T | CA402373377 | LOXHD1 | c.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 |
18 | g.46524826T>A | CA402373378 | LOXHD1 | c.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) | |
18 | g.46524826T>C | CA402373379 | LOXHD1 | c.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 |
18 | g.46524826T>G | CA402373380 | LOXHD1 | c.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) | |
18 | g.46524827A>C | CA402373381 | LOXHD1 | c.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) | |
18 | g.46524827A>G | CA402373382 | LOXHD1 | c.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) | |
18 | g.46524827A>T | CA402373383 | LOXHD1 | c.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) | |
18 | g.46524828C>A | CA402373385 | LOXHD1 | c.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) | |
18 | g.46524828C= | CA2300872245 | LOXHD1 | c.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=) | |
18 | g.46524828C>G | CA402373386 | LOXHD1 | c.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 |
18 | g.46524828C>T | CA402373384 | LOXHD1 | c.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) | |
18 | g.46524829C>A | CA402373387 | LOXHD1 | c.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) | |
18 | g.46524829C>G | CA402373388 | LOXHD1 | c.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) | |
18 | g.46524829C>T | CA402373389 | LOXHD1 | c.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) | |
18 | g.46524830A>C | CA402373390 | LOXHD1 | c.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) | |
18 | g.46524830A>G | CA402373391 | LOXHD1 | c.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 |
18 | g.46524830A>T | CA402373392 | LOXHD1 | c.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) | |
18 | g.46524831G>A | CA503809460 | LOXHD1 | c.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=) | |
18 | g.46524831G>C | CA402373393 | LOXHD1 | c.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 |
18 | g.46524831G>T | CA402373394 | LOXHD1 | c.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) | |
18 | g.46524832T>A | CA402373395 | LOXHD1 | c.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) | |
18 | g.46524832T>C | CA402373396 | LOXHD1 | c.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) | |
18 | g.46524832T>G | CA402373397 | LOXHD1 | c.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) | |
18 | g.46524833C>A | CA402373398 | LOXHD1 | c.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 |
18 | g.46524833C>G | CA402373399 | LOXHD1 | c.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) | |
18 | g.46524833C>T | CA402373400 | LOXHD1 | c.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) | |
18 | g.46524834T>A | CA503809461 | LOXHD1 | c.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=) | |
18 | g.46524834T>C | CA503809463 | LOXHD1 | c.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=) | |
18 | g.46524834T>G | CA503809462 | LOXHD1 | c.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=) | |
18 | g.46524835G>A | CA402373402 | LOXHD1 | c.1280C>T (p.Ala427Val) c.992C>T (p.Ala331Val) c.4613C>T (p.Ala1538Val) n.3926C>T c.3995C>T (p.Ala1332Val) c.1412C>T (p.Ala471Val) c.2774C>T (p.Ala925Val) c.1277C>T (p.Ala426Val) c.3095C>T (p.Ala1032Val) | |
18 | g.46524835G>C | CA299801847 | LOXHD1 | c.1280C>G (p.Ala427Gly) c.992C>G (p.Ala331Gly) c.4613C>G (p.Ala1538Gly) n.3926C>G c.3995C>G (p.Ala1332Gly) c.1412C>G (p.Ala471Gly) c.2774C>G (p.Ala925Gly) c.1277C>G (p.Ala426Gly) c.3095C>G (p.Ala1032Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.46524835G= | CA2300872246 | LOXHD1 | c.1280C= (p.Ala427=) c.992C= (p.Ala331=) c.4613C= (p.Ala1538=) n.3926C= c.3995C= (p.Ala1332=) c.1412C= (p.Ala471=) c.2774C= (p.Ala925=) c.1277C= (p.Ala426=) c.3095C= (p.Ala1032=) | |
18 | g.46524835G>T | CA402373401 | LOXHD1 | c.1280C>A (p.Ala427Glu) c.992C>A (p.Ala331Glu) c.4613C>A (p.Ala1538Glu) n.3926C>A c.3995C>A (p.Ala1332Glu) c.1412C>A (p.Ala471Glu) c.2774C>A (p.Ala925Glu) c.1277C>A (p.Ala426Glu) c.3095C>A (p.Ala1032Glu) | |
18 | g.46524836C>A | CA8952320 | LOXHD1 | c.1279G>T (p.Ala427Ser) c.991G>T (p.Ala331Ser) c.4612G>T (p.Ala1538Ser) n.3925G>T c.3994G>T (p.Ala1332Ser) c.1411G>T (p.Ala471Ser) c.2773G>T (p.Ala925Ser) c.1276G>T (p.Ala426Ser) c.3094G>T (p.Ala1032Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.46524836C= | CA2300872247 | LOXHD1 | c.1279G= (p.Ala427=) c.991G= (p.Ala331=) c.4612G= (p.Ala1538=) n.3925G= c.3994G= (p.Ala1332=) c.1411G= (p.Ala471=) c.2773G= (p.Ala925=) c.1276G= (p.Ala426=) c.3094G= (p.Ala1032=) | |
18 | g.46524836C>G | CA402373403 | LOXHD1 | c.1279G>C (p.Ala427Pro) c.991G>C (p.Ala331Pro) c.4612G>C (p.Ala1538Pro) n.3925G>C c.3994G>C (p.Ala1332Pro) c.1411G>C (p.Ala471Pro) c.2773G>C (p.Ala925Pro) c.1276G>C (p.Ala426Pro) c.3094G>C (p.Ala1032Pro) | |
18 | g.46524836C>T | CA8952319 | LOXHD1 | c.1279G>A (p.Ala427Thr) c.991G>A (p.Ala331Thr) c.4612G>A (p.Ala1538Thr) n.3925G>A c.3994G>A (p.Ala1332Thr) c.1411G>A (p.Ala471Thr) c.2773G>A (p.Ala925Thr) c.1276G>A (p.Ala426Thr) c.3094G>A (p.Ala1032Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.46524837G>A | CA8952321 | LOXHD1 | c.1278C>T (p.Cys426=) c.990C>T (p.Cys330=) c.4611C>T (p.Cys1537=) n.3924C>T c.3993C>T (p.Cys1331=) c.1410C>T (p.Cys470=) c.2772C>T (p.Cys924=) c.1275C>T (p.Cys425=) c.3093C>T (p.Cys1031=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.46524837G>C | CA402373404 | LOXHD1 | c.1278C>G (p.Cys426Trp) c.990C>G (p.Cys330Trp) c.4611C>G (p.Cys1537Trp) n.3924C>G c.3993C>G (p.Cys1331Trp) c.1410C>G (p.Cys470Trp) c.2772C>G (p.Cys924Trp) c.1275C>G (p.Cys425Trp) c.3093C>G (p.Cys1031Trp) | |
18 | g.46524837G= | CA2300872248 | LOXHD1 | c.1278C= (p.Cys426=) c.990C= (p.Cys330=) c.4611C= (p.Cys1537=) n.3924C= c.3993C= (p.Cys1331=) c.1410C= (p.Cys470=) c.2772C= (p.Cys924=) c.1275C= (p.Cys425=) c.3093C= (p.Cys1031=) | |
18 | g.46524837G>T | CA402373405 | LOXHD1 | c.1278C>A (p.Cys426Ter) c.990C>A (p.Cys330Ter) c.4611C>A (p.Cys1537Ter) n.3924C>A c.3993C>A (p.Cys1331Ter) c.1410C>A (p.Cys470Ter) c.2772C>A (p.Cys924Ter) c.1275C>A (p.Cys425Ter) c.3093C>A (p.Cys1031Ter) | ClinVar dbSNP |
18 | g.46524838C>A | CA402373408 | LOXHD1 | c.1277G>T (p.Cys426Phe) c.989G>T (p.Cys330Phe) c.4610G>T (p.Cys1537Phe) n.3923G>T c.3992G>T (p.Cys1331Phe) c.1409G>T (p.Cys470Phe) c.2771G>T (p.Cys924Phe) c.1274G>T (p.Cys425Phe) c.3092G>T (p.Cys1031Phe) | |
18 | g.46524838C= | CA2300872249 | LOXHD1 | c.1277G= (p.Cys426=) c.989G= (p.Cys330=) c.4610G= (p.Cys1537=) n.3923G= c.3992G= (p.Cys1331=) c.1409G= (p.Cys470=) c.2771G= (p.Cys924=) c.1274G= (p.Cys425=) c.3092G= (p.Cys1031=) | |
18 | g.46524838C>G | CA402373406 | LOXHD1 | c.1277G>C (p.Cys426Ser) c.989G>C (p.Cys330Ser) c.4610G>C (p.Cys1537Ser) n.3923G>C c.3992G>C (p.Cys1331Ser) c.1409G>C (p.Cys470Ser) c.2771G>C (p.Cys924Ser) c.1274G>C (p.Cys425Ser) c.3092G>C (p.Cys1031Ser) | |
18 | g.46524838C>T | CA402373407 | LOXHD1 | c.1277G>A (p.Cys426Tyr) c.989G>A (p.Cys330Tyr) c.4610G>A (p.Cys1537Tyr) n.3923G>A c.3992G>A (p.Cys1331Tyr) c.1409G>A (p.Cys470Tyr) c.2771G>A (p.Cys924Tyr) c.1274G>A (p.Cys425Tyr) c.3092G>A (p.Cys1031Tyr) | dbSNP gnomAD v4 |
18 | g.46524839A= | CA2300872250 | LOXHD1 | c.1276T= (p.Cys426=) c.988T= (p.Cys330=) c.4609T= (p.Cys1537=) n.3922T= c.3991T= (p.Cys1331=) c.1408T= (p.Cys470=) c.2770T= (p.Cys924=) c.1273T= (p.Cys425=) c.3091T= (p.Cys1031=) | |
18 | g.46524839A>C | CA402373409 | LOXHD1 | c.1276T>G (p.Cys426Gly) c.988T>G (p.Cys330Gly) c.4609T>G (p.Cys1537Gly) n.3922T>G c.3991T>G (p.Cys1331Gly) c.1408T>G (p.Cys470Gly) c.2770T>G (p.Cys924Gly) c.1273T>G (p.Cys425Gly) c.3091T>G (p.Cys1031Gly) | |
18 | g.46524839A>G | CA10606406 | LOXHD1 | c.1276T>C (p.Cys426Arg) c.988T>C (p.Cys330Arg) c.4609T>C (p.Cys1537Arg) n.3922T>C c.3991T>C (p.Cys1331Arg) c.1408T>C (p.Cys470Arg) c.2770T>C (p.Cys924Arg) c.1273T>C (p.Cys425Arg) c.3091T>C (p.Cys1031Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.46524839A>T | CA402373410 | LOXHD1 | c.1276T>A (p.Cys426Ser) c.988T>A (p.Cys330Ser) c.4609T>A (p.Cys1537Ser) n.3922T>A c.3991T>A (p.Cys1331Ser) c.1408T>A (p.Cys470Ser) c.2770T>A (p.Cys924Ser) c.1273T>A (p.Cys425Ser) c.3091T>A (p.Cys1031Ser) | |
18 | g.46524840C>A | CA402373411 | LOXHD1 | c.1275G>T (p.Trp425Cys) c.987G>T (p.Trp329Cys) c.4608G>T (p.Trp1536Cys) n.3921G>T c.3990G>T (p.Trp1330Cys) c.1407G>T (p.Trp469Cys) c.2769G>T (p.Trp923Cys) c.1272G>T (p.Trp424Cys) c.3090G>T (p.Trp1030Cys) | |
18 | g.46524840C>G | CA402373412 | LOXHD1 | c.1275G>C (p.Trp425Cys) c.987G>C (p.Trp329Cys) c.4608G>C (p.Trp1536Cys) n.3921G>C c.3990G>C (p.Trp1330Cys) c.1407G>C (p.Trp469Cys) c.2769G>C (p.Trp923Cys) c.1272G>C (p.Trp424Cys) c.3090G>C (p.Trp1030Cys) | |
18 | g.46524840C>T | CA402373413 | LOXHD1 | c.1275G>A (p.Trp425Ter) c.987G>A (p.Trp329Ter) c.4608G>A (p.Trp1536Ter) n.3921G>A c.3990G>A (p.Trp1330Ter) c.1407G>A (p.Trp469Ter) c.2769G>A (p.Trp923Ter) c.1272G>A (p.Trp424Ter) c.3090G>A (p.Trp1030Ter) | |
18 | g.46524841C>A | CA402373414 | LOXHD1 | c.1274G>T (p.Trp425Leu) c.986G>T (p.Trp329Leu) c.4607G>T (p.Trp1536Leu) n.3920G>T c.3989G>T (p.Trp1330Leu) c.1406G>T (p.Trp469Leu) c.2768G>T (p.Trp923Leu) c.1271G>T (p.Trp424Leu) c.3089G>T (p.Trp1030Leu) | |
18 | g.46524841C= | CA2300872251 | LOXHD1 | c.1274G= (p.Trp425=) c.986G= (p.Trp329=) c.4607G= (p.Trp1536=) n.3920G= c.3989G= (p.Trp1330=) c.1406G= (p.Trp469=) c.2768G= (p.Trp923=) c.1271G= (p.Trp424=) c.3089G= (p.Trp1030=) | |
18 | g.46524841C>G | CA299801849 | LOXHD1 | c.1274G>C (p.Trp425Ser) c.986G>C (p.Trp329Ser) c.4607G>C (p.Trp1536Ser) n.3920G>C c.3989G>C (p.Trp1330Ser) c.1406G>C (p.Trp469Ser) c.2768G>C (p.Trp923Ser) c.1271G>C (p.Trp424Ser) c.3089G>C (p.Trp1030Ser) | dbSNP gnomAD v4 |
18 | g.46524841C>T | CA402373415 | LOXHD1 | c.1274G>A (p.Trp425Ter) c.986G>A (p.Trp329Ter) c.4607G>A (p.Trp1536Ter) n.3920G>A c.3989G>A (p.Trp1330Ter) c.1406G>A (p.Trp469Ter) c.2768G>A (p.Trp923Ter) c.1271G>A (p.Trp424Ter) c.3089G>A (p.Trp1030Ter) | ClinVar |
18 | g.46524842A>C | CA402373416 | LOXHD1 | c.1273T>G (p.Trp425Gly) c.985T>G (p.Trp329Gly) c.4606T>G (p.Trp1536Gly) n.3919T>G c.3988T>G (p.Trp1330Gly) c.1405T>G (p.Trp469Gly) c.2767T>G (p.Trp923Gly) c.1270T>G (p.Trp424Gly) c.3088T>G (p.Trp1030Gly) | |
18 | g.46524842A>G | CA402373417 | LOXHD1 | c.1273T>C (p.Trp425Arg) c.985T>C (p.Trp329Arg) c.4606T>C (p.Trp1536Arg) n.3919T>C c.3988T>C (p.Trp1330Arg) c.1405T>C (p.Trp469Arg) c.2767T>C (p.Trp923Arg) c.1270T>C (p.Trp424Arg) c.3088T>C (p.Trp1030Arg) | gnomAD v4 |
18 | g.46524842A>T | CA402373418 | LOXHD1 | c.1273T>A (p.Trp425Arg) c.985T>A (p.Trp329Arg) c.4606T>A (p.Trp1536Arg) n.3919T>A c.3988T>A (p.Trp1330Arg) c.1405T>A (p.Trp469Arg) c.2767T>A (p.Trp923Arg) c.1270T>A (p.Trp424Arg) c.3088T>A (p.Trp1030Arg) | |
18 | g.46524842_46524853delinsACTTGGAGTTGT | CA2300872252 | LOXHD1 | c.1262_1273delinsACAACTCCAAGT (p.Asp421=) c.974_985delinsACAACTCCAAGT (p.Asp325=) c.4595_4606delinsACAACTCCAAGT (p.Asp1532=) n.3908_3919delinsACAACTCCAAGT c.3977_3988delinsACAACTCCAAGT (p.Asp1326=) c.1394_1405delinsACAACTCCAAGT (p.Asp465=) c.2756_2767delinsACAACTCCAAGT (p.Asp919=) c.1259_1270delinsACAACTCCAAGT (p.Asp420=) c.3077_3088delinsACAACTCCAAGT (p.Asp1026=) | |
18 | g.46524843C>A | CA402373419 | LOXHD1 | c.1272G>T (p.Lys424Asn) c.984G>T (p.Lys328Asn) c.4605G>T (p.Lys1535Asn) n.3918G>T c.3987G>T (p.Lys1329Asn) c.1404G>T (p.Lys468Asn) c.2766G>T (p.Lys922Asn) c.1269G>T (p.Lys423Asn) c.3087G>T (p.Lys1029Asn) | |
18 | g.46524843C>G | CA402373420 | LOXHD1 | c.1272G>C (p.Lys424Asn) c.984G>C (p.Lys328Asn) c.4605G>C (p.Lys1535Asn) n.3918G>C c.3987G>C (p.Lys1329Asn) c.1404G>C (p.Lys468Asn) c.2766G>C (p.Lys922Asn) c.1269G>C (p.Lys423Asn) c.3087G>C (p.Lys1029Asn) | |
18 | g.46524843C>T | CA503809464 | LOXHD1 | c.1272G>A (p.Lys424=) c.984G>A (p.Lys328=) c.4605G>A (p.Lys1535=) n.3918G>A c.3987G>A (p.Lys1329=) c.1404G>A (p.Lys468=) c.2766G>A (p.Lys922=) c.1269G>A (p.Lys423=) c.3087G>A (p.Lys1029=) | ClinVar |
18 | g.46524844_46524854del | CA779801203 | LOXHD1 | c.1262_1272del (p.Asp421ValfsTer15) c.974_984del (p.Asp325ValfsTer15) c.4595_4605del (p.Asp1532ValfsTer15) n.3908_3918del c.3977_3987del (p.Asp1326ValfsTer15) c.1394_1404del (p.Asp465ValfsTer15) c.2756_2766del (p.Asp919ValfsTer15) c.1259_1269del (p.Asp420ValfsTer15) c.3077_3087del (p.Asp1026ValfsTer15) | dbSNP |
18 | g.46524844T>A | CA402373421 | LOXHD1 | c.1271A>T (p.Lys424Met) c.983A>T (p.Lys328Met) c.4604A>T (p.Lys1535Met) n.3917A>T c.3986A>T (p.Lys1329Met) c.1403A>T (p.Lys468Met) c.2765A>T (p.Lys922Met) c.1268A>T (p.Lys423Met) c.3086A>T (p.Lys1029Met) | |
18 | g.46524844T>C | CA402373422 | LOXHD1 | c.1271A>G (p.Lys424Arg) c.983A>G (p.Lys328Arg) c.4604A>G (p.Lys1535Arg) n.3917A>G c.3986A>G (p.Lys1329Arg) c.1403A>G (p.Lys468Arg) c.2765A>G (p.Lys922Arg) c.1268A>G (p.Lys423Arg) c.3086A>G (p.Lys1029Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.46524844T>G | CA402373423 | LOXHD1 | c.1271A>C (p.Lys424Thr) c.983A>C (p.Lys328Thr) c.4604A>C (p.Lys1535Thr) n.3917A>C c.3986A>C (p.Lys1329Thr) c.1403A>C (p.Lys468Thr) c.2765A>C (p.Lys922Thr) c.1268A>C (p.Lys423Thr) c.3086A>C (p.Lys1029Thr) | |
18 | g.46524844T= | CA2300872253 | LOXHD1 | c.1271A= (p.Lys424=) c.983A= (p.Lys328=) c.4604A= (p.Lys1535=) n.3917A= c.3986A= (p.Lys1329=) c.1403A= (p.Lys468=) c.2765A= (p.Lys922=) c.1268A= (p.Lys423=) c.3086A= (p.Lys1029=) |