| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.69379971C>A | CA376917436 | HK1 | c.1141C>A (p.Arg381Ser) c.1057C>A (p.Arg353Ser) c.876-2516C>A (n.876-2516C>A) c.*758C>A (n.*758C>A) c.*404C>A (n.*404C>A) c.1021C>A (p.Arg341Ser) n.1691C>A c.1138C>A (p.Arg380Ser) c.1153C>A (p.Arg385Ser) c.*1029C>A (n.*1029C>A) c.1105C>A (p.Arg369Ser) n.1367C>A c.1270C>A (p.Arg424Ser) c.1099C>A (p.Arg367Ser) c.1096C>A (p.Arg366Ser) c.1246C>A (p.Arg416Ser) c.1045C>A (p.Arg349Ser) | |
| 10 | g.69379971C= | CA1917770592 | HK1 | c.1141C= (p.Arg381=) c.1057C= (p.Arg353=) c.876-2516C= (n.876-2516C=) c.*758C= (n.*758C=) c.*404C= (n.*404C=) c.1021C= (p.Arg341=) n.1691C= c.1138C= (p.Arg380=) c.1153C= (p.Arg385=) c.*1029C= (n.*1029C=) c.1105C= (p.Arg369=) n.1367C= c.1270C= (p.Arg424=) c.1099C= (p.Arg367=) c.1096C= (p.Arg366=) c.1246C= (p.Arg416=) c.1045C= (p.Arg349=) | |
| 10 | g.69379971C>G | CA376917437 | HK1 | c.1141C>G (p.Arg381Gly) c.1057C>G (p.Arg353Gly) c.876-2516C>G (n.876-2516C>G) c.*758C>G (n.*758C>G) c.*404C>G (n.*404C>G) c.1021C>G (p.Arg341Gly) n.1691C>G c.1138C>G (p.Arg380Gly) c.1153C>G (p.Arg385Gly) c.*1029C>G (n.*1029C>G) c.1105C>G (p.Arg369Gly) n.1367C>G c.1270C>G (p.Arg424Gly) c.1099C>G (p.Arg367Gly) c.1096C>G (p.Arg366Gly) c.1246C>G (p.Arg416Gly) c.1045C>G (p.Arg349Gly) | |
| 10 | g.69379971C>T | CA209246747 | HK1 | c.1141C>T (p.Arg381Cys) c.1057C>T (p.Arg353Cys) c.876-2516C>T (n.876-2516C>T) c.*758C>T (n.*758C>T) c.*404C>T (n.*404C>T) c.1021C>T (p.Arg341Cys) n.1691C>T c.1138C>T (p.Arg380Cys) c.1153C>T (p.Arg385Cys) c.*1029C>T (n.*1029C>T) c.1105C>T (p.Arg369Cys) n.1367C>T c.1270C>T (p.Arg424Cys) c.1099C>T (p.Arg367Cys) c.1096C>T (p.Arg366Cys) c.1246C>T (p.Arg416Cys) c.1045C>T (p.Arg349Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.69379972G>A | CA376917438 | HK1 | c.1142G>A (p.Arg381His) c.1058G>A (p.Arg353His) c.876-2515G>A (n.876-2515G>A) c.*759G>A (n.*759G>A) c.*405G>A (n.*405G>A) c.1022G>A (p.Arg341His) n.1692G>A c.1139G>A (p.Arg380His) c.1154G>A (p.Arg385His) c.*1030G>A (n.*1030G>A) c.1106G>A (p.Arg369His) n.1368G>A c.1271G>A (p.Arg424His) c.1100G>A (p.Arg367His) c.1097G>A (p.Arg366His) c.1247G>A (p.Arg416His) c.1046G>A (p.Arg349His) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.69379972G>C | CA376917439 | HK1 | c.1142G>C (p.Arg381Pro) c.1058G>C (p.Arg353Pro) c.876-2515G>C (n.876-2515G>C) c.*759G>C (n.*759G>C) c.*405G>C (n.*405G>C) c.1022G>C (p.Arg341Pro) n.1692G>C c.1139G>C (p.Arg380Pro) c.1154G>C (p.Arg385Pro) c.*1030G>C (n.*1030G>C) c.1106G>C (p.Arg369Pro) n.1368G>C c.1271G>C (p.Arg424Pro) c.1100G>C (p.Arg367Pro) c.1097G>C (p.Arg366Pro) c.1247G>C (p.Arg416Pro) c.1046G>C (p.Arg349Pro) | |
| 10 | g.69379972G= | CA1917770593 | HK1 | c.1142G= (p.Arg381=) c.1058G= (p.Arg353=) c.876-2515G= (n.876-2515G=) c.*759G= (n.*759G=) c.*405G= (n.*405G=) c.1022G= (p.Arg341=) n.1692G= c.1139G= (p.Arg380=) c.1154G= (p.Arg385=) c.*1030G= (n.*1030G=) c.1106G= (p.Arg369=) n.1368G= c.1271G= (p.Arg424=) c.1100G= (p.Arg367=) c.1097G= (p.Arg366=) c.1247G= (p.Arg416=) c.1046G= (p.Arg349=) | |
| 10 | g.69379972G>T | CA376917440 | HK1 | c.1142G>T (p.Arg381Leu) c.1058G>T (p.Arg353Leu) c.876-2515G>T (n.876-2515G>T) c.*759G>T (n.*759G>T) c.*405G>T (n.*405G>T) c.1022G>T (p.Arg341Leu) n.1692G>T c.1139G>T (p.Arg380Leu) c.1154G>T (p.Arg385Leu) c.*1030G>T (n.*1030G>T) c.1106G>T (p.Arg369Leu) n.1368G>T c.1271G>T (p.Arg424Leu) c.1100G>T (p.Arg367Leu) c.1097G>T (p.Arg366Leu) c.1247G>T (p.Arg416Leu) c.1046G>T (p.Arg349Leu) | |
| 10 | g.69379973C>A | CA470027064 | HK1 | c.1143C>A (p.Arg381=) c.1059C>A (p.Arg353=) c.876-2514C>A (n.876-2514C>A) c.*760C>A (n.*760C>A) c.*406C>A (n.*406C>A) c.1023C>A (p.Arg341=) n.1693C>A c.1140C>A (p.Arg380=) c.1155C>A (p.Arg385=) c.*1031C>A (n.*1031C>A) c.1107C>A (p.Arg369=) n.1369C>A c.1272C>A (p.Arg424=) c.1101C>A (p.Arg367=) c.1098C>A (p.Arg366=) c.1248C>A (p.Arg416=) c.1047C>A (p.Arg349=) | |
| 10 | g.69379973C= | CA1917770594 | HK1 | c.1143C= (p.Arg381=) c.1059C= (p.Arg353=) c.876-2514C= (n.876-2514C=) c.*760C= (n.*760C=) c.*406C= (n.*406C=) c.1023C= (p.Arg341=) n.1693C= c.1140C= (p.Arg380=) c.1155C= (p.Arg385=) c.*1031C= (n.*1031C=) c.1107C= (p.Arg369=) n.1369C= c.1272C= (p.Arg424=) c.1101C= (p.Arg367=) c.1098C= (p.Arg366=) c.1248C= (p.Arg416=) c.1047C= (p.Arg349=) | |
| 10 | g.69379973C>G | CA470027065 | HK1 | c.1143C>G (p.Arg381=) c.1059C>G (p.Arg353=) c.876-2514C>G (n.876-2514C>G) c.*760C>G (n.*760C>G) c.*406C>G (n.*406C>G) c.1023C>G (p.Arg341=) n.1693C>G c.1140C>G (p.Arg380=) c.1155C>G (p.Arg385=) c.*1031C>G (n.*1031C>G) c.1107C>G (p.Arg369=) n.1369C>G c.1272C>G (p.Arg424=) c.1101C>G (p.Arg367=) c.1098C>G (p.Arg366=) c.1248C>G (p.Arg416=) c.1047C>G (p.Arg349=) | dbSNP gnomAD v2 |
| 10 | g.69379973C>T | CA470027066 | HK1 | c.1143C>T (p.Arg381=) c.1059C>T (p.Arg353=) c.876-2514C>T (n.876-2514C>T) c.*760C>T (n.*760C>T) c.*406C>T (n.*406C>T) c.1023C>T (p.Arg341=) n.1693C>T c.1140C>T (p.Arg380=) c.1155C>T (p.Arg385=) c.*1031C>T (n.*1031C>T) c.1107C>T (p.Arg369=) n.1369C>T c.1272C>T (p.Arg424=) c.1101C>T (p.Arg367=) c.1098C>T (p.Arg366=) c.1248C>T (p.Arg416=) c.1047C>T (p.Arg349=) | |
| 10 | g.69379974T>A | CA376917443 | HK1 | c.1144T>A (p.Ser382Thr) c.1060T>A (p.Ser354Thr) c.876-2513T>A (n.876-2513T>A) c.*761T>A (n.*761T>A) c.*407T>A (n.*407T>A) c.1024T>A (p.Ser342Thr) n.1694T>A c.1141T>A (p.Ser381Thr) c.1156T>A (p.Ser386Thr) c.*1032T>A (n.*1032T>A) c.1108T>A (p.Ser370Thr) n.1370T>A c.1273T>A (p.Ser425Thr) c.1102T>A (p.Ser368Thr) c.1099T>A (p.Ser367Thr) c.1249T>A (p.Ser417Thr) c.1048T>A (p.Ser350Thr) | |
| 10 | g.69379974T>C | CA376917442 | HK1 | c.1144T>C (p.Ser382Pro) c.1060T>C (p.Ser354Pro) c.876-2513T>C (n.876-2513T>C) c.*761T>C (n.*761T>C) c.*407T>C (n.*407T>C) c.1024T>C (p.Ser342Pro) n.1694T>C c.1141T>C (p.Ser381Pro) c.1156T>C (p.Ser386Pro) c.*1032T>C (n.*1032T>C) c.1108T>C (p.Ser370Pro) n.1370T>C c.1273T>C (p.Ser425Pro) c.1102T>C (p.Ser368Pro) c.1099T>C (p.Ser367Pro) c.1249T>C (p.Ser417Pro) c.1048T>C (p.Ser350Pro) | dbSNP |
| 10 | g.69379974T>G | CA376917441 | HK1 | c.1144T>G (p.Ser382Ala) c.1060T>G (p.Ser354Ala) c.876-2513T>G (n.876-2513T>G) c.*761T>G (n.*761T>G) c.*407T>G (n.*407T>G) c.1024T>G (p.Ser342Ala) n.1694T>G c.1141T>G (p.Ser381Ala) c.1156T>G (p.Ser386Ala) c.*1032T>G (n.*1032T>G) c.1108T>G (p.Ser370Ala) n.1370T>G c.1273T>G (p.Ser425Ala) c.1102T>G (p.Ser368Ala) c.1099T>G (p.Ser367Ala) c.1249T>G (p.Ser417Ala) c.1048T>G (p.Ser350Ala) | |
| 10 | g.69379974T= | CA1917770595 | HK1 | c.1144T= (p.Ser382=) c.1060T= (p.Ser354=) c.876-2513T= (n.876-2513T=) c.*761T= (n.*761T=) c.*407T= (n.*407T=) c.1024T= (p.Ser342=) n.1694T= c.1141T= (p.Ser381=) c.1156T= (p.Ser386=) c.*1032T= (n.*1032T=) c.1108T= (p.Ser370=) n.1370T= c.1273T= (p.Ser425=) c.1102T= (p.Ser368=) c.1099T= (p.Ser367=) c.1249T= (p.Ser417=) c.1048T= (p.Ser350=) | |
| 10 | g.69379975C>A | CA376917444 | HK1 | c.1145C>A (p.Ser382Ter) c.1061C>A (p.Ser354Ter) c.876-2512C>A (n.876-2512C>A) c.*762C>A (n.*762C>A) c.*408C>A (n.*408C>A) c.1025C>A (p.Ser342Ter) n.1695C>A c.1142C>A (p.Ser381Ter) c.1157C>A (p.Ser386Ter) c.*1033C>A (n.*1033C>A) c.1109C>A (p.Ser370Ter) n.1371C>A c.1274C>A (p.Ser425Ter) c.1103C>A (p.Ser368Ter) c.1100C>A (p.Ser367Ter) c.1250C>A (p.Ser417Ter) c.1049C>A (p.Ser350Ter) | |
| 10 | g.69379975C>G | CA376917445 | HK1 | c.1145C>G (p.Ser382Ter) c.1061C>G (p.Ser354Ter) c.876-2512C>G (n.876-2512C>G) c.*762C>G (n.*762C>G) c.*408C>G (n.*408C>G) c.1025C>G (p.Ser342Ter) n.1695C>G c.1142C>G (p.Ser381Ter) c.1157C>G (p.Ser386Ter) c.*1033C>G (n.*1033C>G) c.1109C>G (p.Ser370Ter) n.1371C>G c.1274C>G (p.Ser425Ter) c.1103C>G (p.Ser368Ter) c.1100C>G (p.Ser367Ter) c.1250C>G (p.Ser417Ter) c.1049C>G (p.Ser350Ter) | |
| 10 | g.69379975C>T | CA376917446 | HK1 | c.1145C>T (p.Ser382Leu) c.1061C>T (p.Ser354Leu) c.876-2512C>T (n.876-2512C>T) c.*762C>T (n.*762C>T) c.*408C>T (n.*408C>T) c.1025C>T (p.Ser342Leu) n.1695C>T c.1142C>T (p.Ser381Leu) c.1157C>T (p.Ser386Leu) c.*1033C>T (n.*1033C>T) c.1109C>T (p.Ser370Leu) n.1371C>T c.1274C>T (p.Ser425Leu) c.1103C>T (p.Ser368Leu) c.1100C>T (p.Ser367Leu) c.1250C>T (p.Ser417Leu) c.1049C>T (p.Ser350Leu) | |
| 10 | g.69379976A>C | CA470027073 | HK1 | c.1146A>C (p.Ser382=) c.1062A>C (p.Ser354=) c.876-2511A>C (n.876-2511A>C) c.*763A>C (n.*763A>C) c.*409A>C (n.*409A>C) c.1026A>C (p.Ser342=) n.1696A>C c.1143A>C (p.Ser381=) c.1158A>C (p.Ser386=) c.*1034A>C (n.*1034A>C) c.1110A>C (p.Ser370=) n.1372A>C c.1275A>C (p.Ser425=) c.1104A>C (p.Ser368=) c.1101A>C (p.Ser367=) c.1251A>C (p.Ser417=) c.1050A>C (p.Ser350=) | |
| 10 | g.69379976A>G | CA470027074 | HK1 | c.1146A>G (p.Ser382=) c.1062A>G (p.Ser354=) c.876-2511A>G (n.876-2511A>G) c.*763A>G (n.*763A>G) c.*409A>G (n.*409A>G) c.1026A>G (p.Ser342=) n.1696A>G c.1143A>G (p.Ser381=) c.1158A>G (p.Ser386=) c.*1034A>G (n.*1034A>G) c.1110A>G (p.Ser370=) n.1372A>G c.1275A>G (p.Ser425=) c.1104A>G (p.Ser368=) c.1101A>G (p.Ser367=) c.1251A>G (p.Ser417=) c.1050A>G (p.Ser350=) | |
| 10 | g.69379976A>T | CA470027075 | HK1 | c.1146A>T (p.Ser382=) c.1062A>T (p.Ser354=) c.876-2511A>T (n.876-2511A>T) c.*763A>T (n.*763A>T) c.*409A>T (n.*409A>T) c.1026A>T (p.Ser342=) n.1696A>T c.1143A>T (p.Ser381=) c.1158A>T (p.Ser386=) c.*1034A>T (n.*1034A>T) c.1110A>T (p.Ser370=) n.1372A>T c.1275A>T (p.Ser425=) c.1104A>T (p.Ser368=) c.1101A>T (p.Ser367=) c.1251A>T (p.Ser417=) c.1050A>T (p.Ser350=) | |
| 10 | g.69379977G>A | CA376917447 | HK1 | c.1147G>A (p.Ala383Thr) c.1063G>A (p.Ala355Thr) c.876-2510G>A (n.876-2510G>A) c.*764G>A (n.*764G>A) c.*410G>A (n.*410G>A) c.1027G>A (p.Ala343Thr) n.1697G>A c.1144G>A (p.Ala382Thr) c.1159G>A (p.Ala387Thr) c.*1035G>A (n.*1035G>A) c.1111G>A (p.Ala371Thr) n.1373G>A c.1276G>A (p.Ala426Thr) c.1105G>A (p.Ala369Thr) c.1102G>A (p.Ala368Thr) c.1252G>A (p.Ala418Thr) c.1051G>A (p.Ala351Thr) | |
| 10 | g.69379977G>C | CA376917448 | HK1 | c.1147G>C (p.Ala383Pro) c.1063G>C (p.Ala355Pro) c.876-2510G>C (n.876-2510G>C) c.*764G>C (n.*764G>C) c.*410G>C (n.*410G>C) c.1027G>C (p.Ala343Pro) n.1697G>C c.1144G>C (p.Ala382Pro) c.1159G>C (p.Ala387Pro) c.*1035G>C (n.*1035G>C) c.1111G>C (p.Ala371Pro) n.1373G>C c.1276G>C (p.Ala426Pro) c.1105G>C (p.Ala369Pro) c.1102G>C (p.Ala368Pro) c.1252G>C (p.Ala418Pro) c.1051G>C (p.Ala351Pro) | |
| 10 | g.69379977G>T | CA376917449 | HK1 | c.1147G>T (p.Ala383Ser) c.1063G>T (p.Ala355Ser) c.876-2510G>T (n.876-2510G>T) c.*764G>T (n.*764G>T) c.*410G>T (n.*410G>T) c.1027G>T (p.Ala343Ser) n.1697G>T c.1144G>T (p.Ala382Ser) c.1159G>T (p.Ala387Ser) c.*1035G>T (n.*1035G>T) c.1111G>T (p.Ala371Ser) n.1373G>T c.1276G>T (p.Ala426Ser) c.1105G>T (p.Ala369Ser) c.1102G>T (p.Ala368Ser) c.1252G>T (p.Ala418Ser) c.1051G>T (p.Ala351Ser) | |
| 10 | g.69379978C>A | CA376917450 | HK1 | c.1148C>A (p.Ala383Asp) c.1064C>A (p.Ala355Asp) c.876-2509C>A (n.876-2509C>A) c.*765C>A (n.*765C>A) c.*411C>A (n.*411C>A) c.1028C>A (p.Ala343Asp) n.1698C>A c.1145C>A (p.Ala382Asp) c.1160C>A (p.Ala387Asp) c.*1036C>A (n.*1036C>A) c.1112C>A (p.Ala371Asp) n.1374C>A c.1277C>A (p.Ala426Asp) c.1106C>A (p.Ala369Asp) c.1103C>A (p.Ala368Asp) c.1253C>A (p.Ala418Asp) c.1052C>A (p.Ala351Asp) | |
| 10 | g.69379978C= | CA1917770596 | HK1 | c.1148C= (p.Ala383=) c.1064C= (p.Ala355=) c.876-2509C= (n.876-2509C=) c.*765C= (n.*765C=) c.*411C= (n.*411C=) c.1028C= (p.Ala343=) n.1698C= c.1145C= (p.Ala382=) c.1160C= (p.Ala387=) c.*1036C= (n.*1036C=) c.1112C= (p.Ala371=) n.1374C= c.1277C= (p.Ala426=) c.1106C= (p.Ala369=) c.1103C= (p.Ala368=) c.1253C= (p.Ala418=) c.1052C= (p.Ala351=) | |
| 10 | g.69379978C>G | CA376917451 | HK1 | c.1148C>G (p.Ala383Gly) c.1064C>G (p.Ala355Gly) c.876-2509C>G (n.876-2509C>G) c.*765C>G (n.*765C>G) c.*411C>G (n.*411C>G) c.1028C>G (p.Ala343Gly) n.1698C>G c.1145C>G (p.Ala382Gly) c.1160C>G (p.Ala387Gly) c.*1036C>G (n.*1036C>G) c.1112C>G (p.Ala371Gly) n.1374C>G c.1277C>G (p.Ala426Gly) c.1106C>G (p.Ala369Gly) c.1103C>G (p.Ala368Gly) c.1253C>G (p.Ala418Gly) c.1052C>G (p.Ala351Gly) | |
| 10 | g.69379978C>T | CA5532517 | HK1 | c.1148C>T (p.Ala383Val) c.1064C>T (p.Ala355Val) c.876-2509C>T (n.876-2509C>T) c.*765C>T (n.*765C>T) c.*411C>T (n.*411C>T) c.1028C>T (p.Ala343Val) n.1698C>T c.1145C>T (p.Ala382Val) c.1160C>T (p.Ala387Val) c.*1036C>T (n.*1036C>T) c.1112C>T (p.Ala371Val) n.1374C>T c.1277C>T (p.Ala426Val) c.1106C>T (p.Ala369Val) c.1103C>T (p.Ala368Val) c.1253C>T (p.Ala418Val) c.1052C>T (p.Ala351Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.69379979C>A | CA470027081 | HK1 | c.1149C>A (p.Ala383=) c.1065C>A (p.Ala355=) c.876-2508C>A (n.876-2508C>A) c.*766C>A (n.*766C>A) c.*412C>A (n.*412C>A) c.1029C>A (p.Ala343=) n.1699C>A c.1146C>A (p.Ala382=) c.1161C>A (p.Ala387=) c.*1037C>A (n.*1037C>A) c.1113C>A (p.Ala371=) n.1375C>A c.1278C>A (p.Ala426=) c.1107C>A (p.Ala369=) c.1104C>A (p.Ala368=) c.1254C>A (p.Ala418=) c.1053C>A (p.Ala351=) | |
| 10 | g.69379979C>G | CA470027082 | HK1 | c.1149C>G (p.Ala383=) c.1065C>G (p.Ala355=) c.876-2508C>G (n.876-2508C>G) c.*766C>G (n.*766C>G) c.*412C>G (n.*412C>G) c.1029C>G (p.Ala343=) n.1699C>G c.1146C>G (p.Ala382=) c.1161C>G (p.Ala387=) c.*1037C>G (n.*1037C>G) c.1113C>G (p.Ala371=) n.1375C>G c.1278C>G (p.Ala426=) c.1107C>G (p.Ala369=) c.1104C>G (p.Ala368=) c.1254C>G (p.Ala418=) c.1053C>G (p.Ala351=) | |
| 10 | g.69379979C>T | CA470027083 | HK1 | c.1149C>T (p.Ala383=) c.1065C>T (p.Ala355=) c.876-2508C>T (n.876-2508C>T) c.*766C>T (n.*766C>T) c.*412C>T (n.*412C>T) c.1029C>T (p.Ala343=) n.1699C>T c.1146C>T (p.Ala382=) c.1161C>T (p.Ala387=) c.*1037C>T (n.*1037C>T) c.1113C>T (p.Ala371=) n.1375C>T c.1278C>T (p.Ala426=) c.1107C>T (p.Ala369=) c.1104C>T (p.Ala368=) c.1254C>T (p.Ala418=) c.1053C>T (p.Ala351=) | |
| 10 | g.69379980A>C | CA376917452 | HK1 | c.1150A>C (p.Asn384His) c.1066A>C (p.Asn356His) c.876-2507A>C (n.876-2507A>C) c.*767A>C (n.*767A>C) c.*413A>C (n.*413A>C) c.1030A>C (p.Asn344His) n.1700A>C c.1147A>C (p.Asn383His) c.1162A>C (p.Asn388His) c.*1038A>C (n.*1038A>C) c.1114A>C (p.Asn372His) n.1376A>C c.1279A>C (p.Asn427His) c.1108A>C (p.Asn370His) c.1105A>C (p.Asn369His) c.1255A>C (p.Asn419His) c.1054A>C (p.Asn352His) | |
| 10 | g.69379980A>G | CA376917453 | HK1 | c.1150A>G (p.Asn384Asp) c.1066A>G (p.Asn356Asp) c.876-2507A>G (n.876-2507A>G) c.*767A>G (n.*767A>G) c.*413A>G (n.*413A>G) c.1030A>G (p.Asn344Asp) n.1700A>G c.1147A>G (p.Asn383Asp) c.1162A>G (p.Asn388Asp) c.*1038A>G (n.*1038A>G) c.1114A>G (p.Asn372Asp) n.1376A>G c.1279A>G (p.Asn427Asp) c.1108A>G (p.Asn370Asp) c.1105A>G (p.Asn369Asp) c.1255A>G (p.Asn419Asp) c.1054A>G (p.Asn352Asp) | |
| 10 | g.69379980A>T | CA376917454 | HK1 | c.1150A>T (p.Asn384Tyr) c.1066A>T (p.Asn356Tyr) c.876-2507A>T (n.876-2507A>T) c.*767A>T (n.*767A>T) c.*413A>T (n.*413A>T) c.1030A>T (p.Asn344Tyr) n.1700A>T c.1147A>T (p.Asn383Tyr) c.1162A>T (p.Asn388Tyr) c.*1038A>T (n.*1038A>T) c.1114A>T (p.Asn372Tyr) n.1376A>T c.1279A>T (p.Asn427Tyr) c.1108A>T (p.Asn370Tyr) c.1105A>T (p.Asn369Tyr) c.1255A>T (p.Asn419Tyr) c.1054A>T (p.Asn352Tyr) | |
| 10 | g.69379981A>C | CA376917455 | HK1 | c.1151A>C (p.Asn384Thr) c.1067A>C (p.Asn356Thr) c.876-2506A>C (n.876-2506A>C) c.*768A>C (n.*768A>C) c.*414A>C (n.*414A>C) c.1031A>C (p.Asn344Thr) n.1701A>C c.1148A>C (p.Asn383Thr) c.1163A>C (p.Asn388Thr) c.*1039A>C (n.*1039A>C) c.1115A>C (p.Asn372Thr) n.1377A>C c.1280A>C (p.Asn427Thr) c.1109A>C (p.Asn370Thr) c.1106A>C (p.Asn369Thr) c.1256A>C (p.Asn419Thr) c.1055A>C (p.Asn352Thr) | gnomAD v4 |
| 10 | g.69379981A>G | CA376917456 | HK1 | c.1151A>G (p.Asn384Ser) c.1067A>G (p.Asn356Ser) c.876-2506A>G (n.876-2506A>G) c.*768A>G (n.*768A>G) c.*414A>G (n.*414A>G) c.1031A>G (p.Asn344Ser) n.1701A>G c.1148A>G (p.Asn383Ser) c.1163A>G (p.Asn388Ser) c.*1039A>G (n.*1039A>G) c.1115A>G (p.Asn372Ser) n.1377A>G c.1280A>G (p.Asn427Ser) c.1109A>G (p.Asn370Ser) c.1106A>G (p.Asn369Ser) c.1256A>G (p.Asn419Ser) c.1055A>G (p.Asn352Ser) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.69379981A>T | CA376917457 | HK1 | c.1151A>T (p.Asn384Ile) c.1067A>T (p.Asn356Ile) c.876-2506A>T (n.876-2506A>T) c.*768A>T (n.*768A>T) c.*414A>T (n.*414A>T) c.1031A>T (p.Asn344Ile) n.1701A>T c.1148A>T (p.Asn383Ile) c.1163A>T (p.Asn388Ile) c.*1039A>T (n.*1039A>T) c.1115A>T (p.Asn372Ile) n.1377A>T c.1280A>T (p.Asn427Ile) c.1109A>T (p.Asn370Ile) c.1106A>T (p.Asn369Ile) c.1256A>T (p.Asn419Ile) c.1055A>T (p.Asn352Ile) | |
| 10 | g.69379982C>A | CA376917458 | HK1 | c.1152C>A (p.Asn384Lys) c.1068C>A (p.Asn356Lys) c.876-2505C>A (n.876-2505C>A) c.*769C>A (n.*769C>A) c.*415C>A (n.*415C>A) c.1032C>A (p.Asn344Lys) n.1702C>A c.1149C>A (p.Asn383Lys) c.1164C>A (p.Asn388Lys) c.*1040C>A (n.*1040C>A) c.1116C>A (p.Asn372Lys) n.1378C>A c.1281C>A (p.Asn427Lys) c.1110C>A (p.Asn370Lys) c.1107C>A (p.Asn369Lys) c.1257C>A (p.Asn419Lys) c.1056C>A (p.Asn352Lys) | |
| 10 | g.69379982C= | CA1917770597 | HK1 | c.1152C= (p.Asn384=) c.1068C= (p.Asn356=) c.876-2505C= (n.876-2505C=) c.*769C= (n.*769C=) c.*415C= (n.*415C=) c.1032C= (p.Asn344=) n.1702C= c.1149C= (p.Asn383=) c.1164C= (p.Asn388=) c.*1040C= (n.*1040C=) c.1116C= (p.Asn372=) n.1378C= c.1281C= (p.Asn427=) c.1110C= (p.Asn370=) c.1107C= (p.Asn369=) c.1257C= (p.Asn419=) c.1056C= (p.Asn352=) | |
| 10 | g.69379982C>G | CA376917459 | HK1 | c.1152C>G (p.Asn384Lys) c.1068C>G (p.Asn356Lys) c.876-2505C>G (n.876-2505C>G) c.*769C>G (n.*769C>G) c.*415C>G (n.*415C>G) c.1032C>G (p.Asn344Lys) n.1702C>G c.1149C>G (p.Asn383Lys) c.1164C>G (p.Asn388Lys) c.*1040C>G (n.*1040C>G) c.1116C>G (p.Asn372Lys) n.1378C>G c.1281C>G (p.Asn427Lys) c.1110C>G (p.Asn370Lys) c.1107C>G (p.Asn369Lys) c.1257C>G (p.Asn419Lys) c.1056C>G (p.Asn352Lys) | |
| 10 | g.69379982C>T | CA209246763 | HK1 | c.1152C>T (p.Asn384=) c.1068C>T (p.Asn356=) c.876-2505C>T (n.876-2505C>T) c.*769C>T (n.*769C>T) c.*415C>T (n.*415C>T) c.1032C>T (p.Asn344=) n.1702C>T c.1149C>T (p.Asn383=) c.1164C>T (p.Asn388=) c.*1040C>T (n.*1040C>T) c.1116C>T (p.Asn372=) n.1378C>T c.1281C>T (p.Asn427=) c.1110C>T (p.Asn370=) c.1107C>T (p.Asn369=) c.1257C>T (p.Asn419=) c.1056C>T (p.Asn352=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.69379983T>A | CA376917460 | HK1 | c.1153T>A (p.Leu385Met) c.1069T>A (p.Leu357Met) c.876-2504T>A (n.876-2504T>A) c.*770T>A (n.*770T>A) c.*416T>A (n.*416T>A) c.1033T>A (p.Leu345Met) n.1703T>A c.1150T>A (p.Leu384Met) c.1165T>A (p.Leu389Met) c.*1041T>A (n.*1041T>A) c.1117T>A (p.Leu373Met) n.1379T>A c.1282T>A (p.Leu428Met) c.1111T>A (p.Leu371Met) c.1108T>A (p.Leu370Met) c.1258T>A (p.Leu420Met) c.1057T>A (p.Leu353Met) | |
| 10 | g.69379983T>C | CA470027084 | HK1 | c.1153T>C (p.Leu385=) c.1069T>C (p.Leu357=) c.876-2504T>C (n.876-2504T>C) c.*770T>C (n.*770T>C) c.*416T>C (n.*416T>C) c.1033T>C (p.Leu345=) n.1703T>C c.1150T>C (p.Leu384=) c.1165T>C (p.Leu389=) c.*1041T>C (n.*1041T>C) c.1117T>C (p.Leu373=) n.1379T>C c.1282T>C (p.Leu428=) c.1111T>C (p.Leu371=) c.1108T>C (p.Leu370=) c.1258T>C (p.Leu420=) c.1057T>C (p.Leu353=) | |
| 10 | g.69379983T>G | CA376917461 | HK1 | c.1153T>G (p.Leu385Val) c.1069T>G (p.Leu357Val) c.876-2504T>G (n.876-2504T>G) c.*770T>G (n.*770T>G) c.*416T>G (n.*416T>G) c.1033T>G (p.Leu345Val) n.1703T>G c.1150T>G (p.Leu384Val) c.1165T>G (p.Leu389Val) c.*1041T>G (n.*1041T>G) c.1117T>G (p.Leu373Val) n.1379T>G c.1282T>G (p.Leu428Val) c.1111T>G (p.Leu371Val) c.1108T>G (p.Leu370Val) c.1258T>G (p.Leu420Val) c.1057T>G (p.Leu353Val) | |
| 10 | g.69379984T>A | CA376917464 | HK1 | c.1154T>A (p.Leu385Ter) c.1070T>A (p.Leu357Ter) c.876-2503T>A (n.876-2503T>A) c.*771T>A (n.*771T>A) c.*417T>A (n.*417T>A) c.1034T>A (p.Leu345Ter) n.1704T>A c.1151T>A (p.Leu384Ter) c.1166T>A (p.Leu389Ter) c.*1042T>A (n.*1042T>A) c.1118T>A (p.Leu373Ter) n.1380T>A c.1283T>A (p.Leu428Ter) c.1112T>A (p.Leu371Ter) c.1109T>A (p.Leu370Ter) c.1259T>A (p.Leu420Ter) c.1058T>A (p.Leu353Ter) | |
| 10 | g.69379984T>C | CA376917462 | HK1 | c.1154T>C (p.Leu385Ser) c.1070T>C (p.Leu357Ser) c.876-2503T>C (n.876-2503T>C) c.*771T>C (n.*771T>C) c.*417T>C (n.*417T>C) c.1034T>C (p.Leu345Ser) n.1704T>C c.1151T>C (p.Leu384Ser) c.1166T>C (p.Leu389Ser) c.*1042T>C (n.*1042T>C) c.1118T>C (p.Leu373Ser) n.1380T>C c.1283T>C (p.Leu428Ser) c.1112T>C (p.Leu371Ser) c.1109T>C (p.Leu370Ser) c.1259T>C (p.Leu420Ser) c.1058T>C (p.Leu353Ser) | |
| 10 | g.69379984T>G | CA376917463 | HK1 | c.1154T>G (p.Leu385Trp) c.1070T>G (p.Leu357Trp) c.876-2503T>G (n.876-2503T>G) c.*771T>G (n.*771T>G) c.*417T>G (n.*417T>G) c.1034T>G (p.Leu345Trp) n.1704T>G c.1151T>G (p.Leu384Trp) c.1166T>G (p.Leu389Trp) c.*1042T>G (n.*1042T>G) c.1118T>G (p.Leu373Trp) n.1380T>G c.1283T>G (p.Leu428Trp) c.1112T>G (p.Leu371Trp) c.1109T>G (p.Leu370Trp) c.1259T>G (p.Leu420Trp) c.1058T>G (p.Leu353Trp) | |
| 10 | g.69379985G>A | CA470027092 | HK1 | c.1155G>A (p.Leu385=) c.1071G>A (p.Leu357=) c.876-2502G>A (n.876-2502G>A) c.*772G>A (n.*772G>A) c.*418G>A (n.*418G>A) c.1035G>A (p.Leu345=) n.1705G>A c.1152G>A (p.Leu384=) c.1167G>A (p.Leu389=) c.*1043G>A (n.*1043G>A) c.1119G>A (p.Leu373=) n.1381G>A c.1284G>A (p.Leu428=) c.1113G>A (p.Leu371=) c.1110G>A (p.Leu370=) c.1260G>A (p.Leu420=) c.1059G>A (p.Leu353=) | |
| 10 | g.69379985G>C | CA376917465 | HK1 | c.1155G>C (p.Leu385Phe) c.1071G>C (p.Leu357Phe) c.876-2502G>C (n.876-2502G>C) c.*772G>C (n.*772G>C) c.*418G>C (n.*418G>C) c.1035G>C (p.Leu345Phe) n.1705G>C c.1152G>C (p.Leu384Phe) c.1167G>C (p.Leu389Phe) c.*1043G>C (n.*1043G>C) c.1119G>C (p.Leu373Phe) n.1381G>C c.1284G>C (p.Leu428Phe) c.1113G>C (p.Leu371Phe) c.1110G>C (p.Leu370Phe) c.1260G>C (p.Leu420Phe) c.1059G>C (p.Leu353Phe) |