| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.69382500T>A | CA376909521 | HK1 | c.1279T>A (p.Phe427Ile) c.1195T>A (p.Phe399Ile) c.1265+2405T>A (n.1265+2405T>A) c.889T>A (p.Phe297Ile) c.*896T>A (n.*896T>A) c.*542T>A (n.*542T>A) c.1159T>A (p.Phe387Ile) n.1829T>A c.1276T>A (p.Phe426Ile) c.1291T>A (p.Phe431Ile) c.*1167T>A (n.*1167T>A) c.1243T>A (p.Phe415Ile) n.1505T>A c.1408T>A (p.Phe470Ile) c.1237T>A (p.Phe413Ile) c.1234T>A (p.Phe412Ile) c.1384T>A (p.Phe462Ile) c.1183T>A (p.Phe395Ile) | |
| 10 | g.69382500T>C | CA376909523 | HK1 | c.1279T>C (p.Phe427Leu) c.1195T>C (p.Phe399Leu) c.1265+2405T>C (n.1265+2405T>C) c.889T>C (p.Phe297Leu) c.*896T>C (n.*896T>C) c.*542T>C (n.*542T>C) c.1159T>C (p.Phe387Leu) n.1829T>C c.1276T>C (p.Phe426Leu) c.1291T>C (p.Phe431Leu) c.*1167T>C (n.*1167T>C) c.1243T>C (p.Phe415Leu) n.1505T>C c.1408T>C (p.Phe470Leu) c.1237T>C (p.Phe413Leu) c.1234T>C (p.Phe412Leu) c.1384T>C (p.Phe462Leu) c.1183T>C (p.Phe395Leu) | |
| 10 | g.69382500T>G | CA376909522 | HK1 | c.1279T>G (p.Phe427Val) c.1195T>G (p.Phe399Val) c.1265+2405T>G (n.1265+2405T>G) c.889T>G (p.Phe297Val) c.*896T>G (n.*896T>G) c.*542T>G (n.*542T>G) c.1159T>G (p.Phe387Val) n.1829T>G c.1276T>G (p.Phe426Val) c.1291T>G (p.Phe431Val) c.*1167T>G (n.*1167T>G) c.1243T>G (p.Phe415Val) n.1505T>G c.1408T>G (p.Phe470Val) c.1237T>G (p.Phe413Val) c.1234T>G (p.Phe412Val) c.1384T>G (p.Phe462Val) c.1183T>G (p.Phe395Val) | |
| 10 | g.69382501T>A | CA376909524 | HK1 | c.1280T>A (p.Phe427Tyr) c.1196T>A (p.Phe399Tyr) c.1265+2406T>A (n.1265+2406T>A) c.890T>A (p.Phe297Tyr) c.*897T>A (n.*897T>A) c.*543T>A (n.*543T>A) c.1160T>A (p.Phe387Tyr) n.1830T>A c.1277T>A (p.Phe426Tyr) c.1292T>A (p.Phe431Tyr) c.*1168T>A (n.*1168T>A) c.1244T>A (p.Phe415Tyr) n.1506T>A c.1409T>A (p.Phe470Tyr) c.1238T>A (p.Phe413Tyr) c.1235T>A (p.Phe412Tyr) c.1385T>A (p.Phe462Tyr) c.1184T>A (p.Phe395Tyr) | |
| 10 | g.69382501T>C | CA376909525 | HK1 | c.1280T>C (p.Phe427Ser) c.1196T>C (p.Phe399Ser) c.1265+2406T>C (n.1265+2406T>C) c.890T>C (p.Phe297Ser) c.*897T>C (n.*897T>C) c.*543T>C (n.*543T>C) c.1160T>C (p.Phe387Ser) n.1830T>C c.1277T>C (p.Phe426Ser) c.1292T>C (p.Phe431Ser) c.*1168T>C (n.*1168T>C) c.1244T>C (p.Phe415Ser) n.1506T>C c.1409T>C (p.Phe470Ser) c.1238T>C (p.Phe413Ser) c.1235T>C (p.Phe412Ser) c.1385T>C (p.Phe462Ser) c.1184T>C (p.Phe395Ser) | |
| 10 | g.69382501T>G | CA209213162 | HK1 | c.1280T>G (p.Phe427Cys) c.1196T>G (p.Phe399Cys) c.1265+2406T>G (n.1265+2406T>G) c.890T>G (p.Phe297Cys) c.*897T>G (n.*897T>G) c.*543T>G (n.*543T>G) c.1160T>G (p.Phe387Cys) n.1830T>G c.1277T>G (p.Phe426Cys) c.1292T>G (p.Phe431Cys) c.*1168T>G (n.*1168T>G) c.1244T>G (p.Phe415Cys) n.1506T>G c.1409T>G (p.Phe470Cys) c.1238T>G (p.Phe413Cys) c.1235T>G (p.Phe412Cys) c.1385T>G (p.Phe462Cys) c.1184T>G (p.Phe395Cys) | dbSNP gnomAD v4 |
| 10 | g.69382501T= | CA1917771971 | HK1 | c.1280T= (p.Phe427=) c.1196T= (p.Phe399=) c.1265+2406T= (n.1265+2406T=) c.890T= (p.Phe297=) c.*897T= (n.*897T=) c.*543T= (n.*543T=) c.1160T= (p.Phe387=) n.1830T= c.1277T= (p.Phe426=) c.1292T= (p.Phe431=) c.*1168T= (n.*1168T=) c.1244T= (p.Phe415=) n.1506T= c.1409T= (p.Phe470=) c.1238T= (p.Phe413=) c.1235T= (p.Phe412=) c.1385T= (p.Phe462=) c.1184T= (p.Phe395=) | |
| 10 | g.69382502C>A | CA376909526 | HK1 | c.1281C>A (p.Phe427Leu) c.1197C>A (p.Phe399Leu) c.1265+2407C>A (n.1265+2407C>A) c.891C>A (p.Phe297Leu) c.*898C>A (n.*898C>A) c.*544C>A (n.*544C>A) c.1161C>A (p.Phe387Leu) n.1831C>A c.1278C>A (p.Phe426Leu) c.1293C>A (p.Phe431Leu) c.*1169C>A (n.*1169C>A) c.1245C>A (p.Phe415Leu) n.1507C>A c.1410C>A (p.Phe470Leu) c.1239C>A (p.Phe413Leu) c.1236C>A (p.Phe412Leu) c.1386C>A (p.Phe462Leu) c.1185C>A (p.Phe395Leu) | |
| 10 | g.69382502C>G | CA376909527 | HK1 | c.1281C>G (p.Phe427Leu) c.1197C>G (p.Phe399Leu) c.1265+2407C>G (n.1265+2407C>G) c.891C>G (p.Phe297Leu) c.*898C>G (n.*898C>G) c.*544C>G (n.*544C>G) c.1161C>G (p.Phe387Leu) n.1831C>G c.1278C>G (p.Phe426Leu) c.1293C>G (p.Phe431Leu) c.*1169C>G (n.*1169C>G) c.1245C>G (p.Phe415Leu) n.1507C>G c.1410C>G (p.Phe470Leu) c.1239C>G (p.Phe413Leu) c.1236C>G (p.Phe412Leu) c.1386C>G (p.Phe462Leu) c.1185C>G (p.Phe395Leu) | |
| 10 | g.69382502C>T | CA470276347 | HK1 | c.1281C>T (p.Phe427=) c.1197C>T (p.Phe399=) c.1265+2407C>T (n.1265+2407C>T) c.891C>T (p.Phe297=) c.*898C>T (n.*898C>T) c.*544C>T (n.*544C>T) c.1161C>T (p.Phe387=) n.1831C>T c.1278C>T (p.Phe426=) c.1293C>T (p.Phe431=) c.*1169C>T (n.*1169C>T) c.1245C>T (p.Phe415=) n.1507C>T c.1410C>T (p.Phe470=) c.1239C>T (p.Phe413=) c.1236C>T (p.Phe412=) c.1386C>T (p.Phe462=) c.1185C>T (p.Phe395=) | |
| 10 | g.69382503C>A | CA376909528 | HK1 | c.1282C>A (p.His428Asn) c.1198C>A (p.His400Asn) c.1265+2408C>A (n.1265+2408C>A) c.892C>A (p.His298Asn) c.*899C>A (n.*899C>A) c.*545C>A (n.*545C>A) c.1162C>A (p.His388Asn) n.1832C>A c.1279C>A (p.His427Asn) c.1294C>A (p.His432Asn) c.*1170C>A (n.*1170C>A) c.1246C>A (p.His416Asn) n.1508C>A c.1411C>A (p.His471Asn) c.1240C>A (p.His414Asn) c.1237C>A (p.His413Asn) c.1387C>A (p.His463Asn) c.1186C>A (p.His396Asn) | |
| 10 | g.69382503C>G | CA376909529 | HK1 | c.1282C>G (p.His428Asp) c.1198C>G (p.His400Asp) c.1265+2408C>G (n.1265+2408C>G) c.892C>G (p.His298Asp) c.*899C>G (n.*899C>G) c.*545C>G (n.*545C>G) c.1162C>G (p.His388Asp) n.1832C>G c.1279C>G (p.His427Asp) c.1294C>G (p.His432Asp) c.*1170C>G (n.*1170C>G) c.1246C>G (p.His416Asp) n.1508C>G c.1411C>G (p.His471Asp) c.1240C>G (p.His414Asp) c.1237C>G (p.His413Asp) c.1387C>G (p.His463Asp) c.1186C>G (p.His396Asp) | |
| 10 | g.69382503C>T | CA376909530 | HK1 | c.1282C>T (p.His428Tyr) c.1198C>T (p.His400Tyr) c.1265+2408C>T (n.1265+2408C>T) c.892C>T (p.His298Tyr) c.*899C>T (n.*899C>T) c.*545C>T (n.*545C>T) c.1162C>T (p.His388Tyr) n.1832C>T c.1279C>T (p.His427Tyr) c.1294C>T (p.His432Tyr) c.*1170C>T (n.*1170C>T) c.1246C>T (p.His416Tyr) n.1508C>T c.1411C>T (p.His471Tyr) c.1240C>T (p.His414Tyr) c.1237C>T (p.His413Tyr) c.1387C>T (p.His463Tyr) c.1186C>T (p.His396Tyr) | |
| 10 | g.69382504A>C | CA376909531 | HK1 | c.1283A>C (p.His428Pro) c.1199A>C (p.His400Pro) c.1265+2409A>C (n.1265+2409A>C) c.893A>C (p.His298Pro) c.*900A>C (n.*900A>C) c.*546A>C (n.*546A>C) c.1163A>C (p.His388Pro) n.1833A>C c.1280A>C (p.His427Pro) c.1295A>C (p.His432Pro) c.*1171A>C (n.*1171A>C) c.1247A>C (p.His416Pro) n.1509A>C c.1412A>C (p.His471Pro) c.1241A>C (p.His414Pro) c.1238A>C (p.His413Pro) c.1388A>C (p.His463Pro) c.1187A>C (p.His396Pro) | |
| 10 | g.69382504A>G | CA376909532 | HK1 | c.1283A>G (p.His428Arg) c.1199A>G (p.His400Arg) c.1265+2409A>G (n.1265+2409A>G) c.893A>G (p.His298Arg) c.*900A>G (n.*900A>G) c.*546A>G (n.*546A>G) c.1163A>G (p.His388Arg) n.1833A>G c.1280A>G (p.His427Arg) c.1295A>G (p.His432Arg) c.*1171A>G (n.*1171A>G) c.1247A>G (p.His416Arg) n.1509A>G c.1412A>G (p.His471Arg) c.1241A>G (p.His414Arg) c.1238A>G (p.His413Arg) c.1388A>G (p.His463Arg) c.1187A>G (p.His396Arg) | |
| 10 | g.69382504A>T | CA376909533 | HK1 | c.1283A>T (p.His428Leu) c.1199A>T (p.His400Leu) c.1265+2409A>T (n.1265+2409A>T) c.893A>T (p.His298Leu) c.*900A>T (n.*900A>T) c.*546A>T (n.*546A>T) c.1163A>T (p.His388Leu) n.1833A>T c.1280A>T (p.His427Leu) c.1295A>T (p.His432Leu) c.*1171A>T (n.*1171A>T) c.1247A>T (p.His416Leu) n.1509A>T c.1412A>T (p.His471Leu) c.1241A>T (p.His414Leu) c.1238A>T (p.His413Leu) c.1388A>T (p.His463Leu) c.1187A>T (p.His396Leu) | |
| 10 | g.69382505C>A | CA376909534 | HK1 | c.1284C>A (p.His428Gln) c.1200C>A (p.His400Gln) c.1265+2410C>A (n.1265+2410C>A) c.894C>A (p.His298Gln) c.*901C>A (n.*901C>A) c.*547C>A (n.*547C>A) c.1164C>A (p.His388Gln) n.1834C>A c.1281C>A (p.His427Gln) c.1296C>A (p.His432Gln) c.*1172C>A (n.*1172C>A) c.1248C>A (p.His416Gln) n.1510C>A c.1413C>A (p.His471Gln) c.1242C>A (p.His414Gln) c.1239C>A (p.His413Gln) c.1389C>A (p.His463Gln) c.1188C>A (p.His396Gln) | |
| 10 | g.69382505C= | CA1917771978 | HK1 | c.1284C= (p.His428=) c.1200C= (p.His400=) c.1265+2410C= (n.1265+2410C=) c.894C= (p.His298=) c.*901C= (n.*901C=) c.*547C= (n.*547C=) c.1164C= (p.His388=) n.1834C= c.1281C= (p.His427=) c.1296C= (p.His432=) c.*1172C= (n.*1172C=) c.1248C= (p.His416=) n.1510C= c.1413C= (p.His471=) c.1242C= (p.His414=) c.1239C= (p.His413=) c.1389C= (p.His463=) c.1188C= (p.His396=) | |
| 10 | g.69382505C>G | CA376909535 | HK1 | c.1284C>G (p.His428Gln) c.1200C>G (p.His400Gln) c.1265+2410C>G (n.1265+2410C>G) c.894C>G (p.His298Gln) c.*901C>G (n.*901C>G) c.*547C>G (n.*547C>G) c.1164C>G (p.His388Gln) n.1834C>G c.1281C>G (p.His427Gln) c.1296C>G (p.His432Gln) c.*1172C>G (n.*1172C>G) c.1248C>G (p.His416Gln) n.1510C>G c.1413C>G (p.His471Gln) c.1242C>G (p.His414Gln) c.1239C>G (p.His413Gln) c.1389C>G (p.His463Gln) c.1188C>G (p.His396Gln) | |
| 10 | g.69382505C>T | CA470276354 | HK1 | c.1284C>T (p.His428=) c.1200C>T (p.His400=) c.1265+2410C>T (n.1265+2410C>T) c.894C>T (p.His298=) c.*901C>T (n.*901C>T) c.*547C>T (n.*547C>T) c.1164C>T (p.His388=) n.1834C>T c.1281C>T (p.His427=) c.1296C>T (p.His432=) c.*1172C>T (n.*1172C>T) c.1248C>T (p.His416=) n.1510C>T c.1413C>T (p.His471=) c.1242C>T (p.His414=) c.1239C>T (p.His413=) c.1389C>T (p.His463=) c.1188C>T (p.His396=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.69382506A>C | CA376909536 | HK1 | c.1285A>C (p.Lys429Gln) c.1201A>C (p.Lys401Gln) c.1265+2411A>C (n.1265+2411A>C) c.895A>C (p.Lys299Gln) c.*902A>C (n.*902A>C) c.*548A>C (n.*548A>C) c.1165A>C (p.Lys389Gln) n.1835A>C c.1282A>C (p.Lys428Gln) c.1297A>C (p.Lys433Gln) c.*1173A>C (n.*1173A>C) c.1249A>C (p.Lys417Gln) n.1511A>C c.1414A>C (p.Lys472Gln) c.1243A>C (p.Lys415Gln) c.1240A>C (p.Lys414Gln) c.1390A>C (p.Lys464Gln) c.1189A>C (p.Lys397Gln) | |
| 10 | g.69382506A>G | CA376909538 | HK1 | c.1285A>G (p.Lys429Glu) c.1201A>G (p.Lys401Glu) c.1265+2411A>G (n.1265+2411A>G) c.895A>G (p.Lys299Glu) c.*902A>G (n.*902A>G) c.*548A>G (n.*548A>G) c.1165A>G (p.Lys389Glu) n.1835A>G c.1282A>G (p.Lys428Glu) c.1297A>G (p.Lys433Glu) c.*1173A>G (n.*1173A>G) c.1249A>G (p.Lys417Glu) n.1511A>G c.1414A>G (p.Lys472Glu) c.1243A>G (p.Lys415Glu) c.1240A>G (p.Lys414Glu) c.1390A>G (p.Lys464Glu) c.1189A>G (p.Lys397Glu) | |
| 10 | g.69382506A>T | CA376909537 | HK1 | c.1285A>T (p.Lys429Ter) c.1201A>T (p.Lys401Ter) c.1265+2411A>T (n.1265+2411A>T) c.895A>T (p.Lys299Ter) c.*902A>T (n.*902A>T) c.*548A>T (n.*548A>T) c.1165A>T (p.Lys389Ter) n.1835A>T c.1282A>T (p.Lys428Ter) c.1297A>T (p.Lys433Ter) c.*1173A>T (n.*1173A>T) c.1249A>T (p.Lys417Ter) n.1511A>T c.1414A>T (p.Lys472Ter) c.1243A>T (p.Lys415Ter) c.1240A>T (p.Lys414Ter) c.1390A>T (p.Lys464Ter) c.1189A>T (p.Lys397Ter) | |
| 10 | g.69382507A>C | CA376909539 | HK1 | c.1286A>C (p.Lys429Thr) c.1202A>C (p.Lys401Thr) c.1265+2412A>C (n.1265+2412A>C) c.896A>C (p.Lys299Thr) c.*903A>C (n.*903A>C) c.*549A>C (n.*549A>C) c.1166A>C (p.Lys389Thr) n.1836A>C c.1283A>C (p.Lys428Thr) c.1298A>C (p.Lys433Thr) c.*1174A>C (n.*1174A>C) c.1250A>C (p.Lys417Thr) n.1512A>C c.1415A>C (p.Lys472Thr) c.1244A>C (p.Lys415Thr) c.1241A>C (p.Lys414Thr) c.1391A>C (p.Lys464Thr) c.1190A>C (p.Lys397Thr) | |
| 10 | g.69382507A>G | CA376909541 | HK1 | c.1286A>G (p.Lys429Arg) c.1202A>G (p.Lys401Arg) c.1265+2412A>G (n.1265+2412A>G) c.896A>G (p.Lys299Arg) c.*903A>G (n.*903A>G) c.*549A>G (n.*549A>G) c.1166A>G (p.Lys389Arg) n.1836A>G c.1283A>G (p.Lys428Arg) c.1298A>G (p.Lys433Arg) c.*1174A>G (n.*1174A>G) c.1250A>G (p.Lys417Arg) n.1512A>G c.1415A>G (p.Lys472Arg) c.1244A>G (p.Lys415Arg) c.1241A>G (p.Lys414Arg) c.1391A>G (p.Lys464Arg) c.1190A>G (p.Lys397Arg) | |
| 10 | g.69382507A>T | CA376909540 | HK1 | c.1286A>T (p.Lys429Met) c.1202A>T (p.Lys401Met) c.1265+2412A>T (n.1265+2412A>T) c.896A>T (p.Lys299Met) c.*903A>T (n.*903A>T) c.*549A>T (n.*549A>T) c.1166A>T (p.Lys389Met) n.1836A>T c.1283A>T (p.Lys428Met) c.1298A>T (p.Lys433Met) c.*1174A>T (n.*1174A>T) c.1250A>T (p.Lys417Met) n.1512A>T c.1415A>T (p.Lys472Met) c.1244A>T (p.Lys415Met) c.1241A>T (p.Lys414Met) c.1391A>T (p.Lys464Met) c.1190A>T (p.Lys397Met) | |
| 10 | g.69382508G>A | CA470276356 | HK1 | c.1287G>A (p.Lys429=) c.1203G>A (p.Lys401=) c.1265+2413G>A (n.1265+2413G>A) c.897G>A (p.Lys299=) c.*904G>A (n.*904G>A) c.*550G>A (n.*550G>A) c.1167G>A (p.Lys389=) n.1837G>A c.1284G>A (p.Lys428=) c.1299G>A (p.Lys433=) c.*1175G>A (n.*1175G>A) c.1251G>A (p.Lys417=) n.1513G>A c.1416G>A (p.Lys472=) c.1245G>A (p.Lys415=) c.1242G>A (p.Lys414=) c.1392G>A (p.Lys464=) c.1191G>A (p.Lys397=) | |
| 10 | g.69382508G>C | CA376909542 | HK1 | c.1287G>C (p.Lys429Asn) c.1203G>C (p.Lys401Asn) c.1265+2413G>C (n.1265+2413G>C) c.897G>C (p.Lys299Asn) c.*904G>C (n.*904G>C) c.*550G>C (n.*550G>C) c.1167G>C (p.Lys389Asn) n.1837G>C c.1284G>C (p.Lys428Asn) c.1299G>C (p.Lys433Asn) c.*1175G>C (n.*1175G>C) c.1251G>C (p.Lys417Asn) n.1513G>C c.1416G>C (p.Lys472Asn) c.1245G>C (p.Lys415Asn) c.1242G>C (p.Lys414Asn) c.1392G>C (p.Lys464Asn) c.1191G>C (p.Lys397Asn) | |
| 10 | g.69382508G>T | CA376909543 | HK1 | c.1287G>T (p.Lys429Asn) c.1203G>T (p.Lys401Asn) c.1265+2413G>T (n.1265+2413G>T) c.897G>T (p.Lys299Asn) c.*904G>T (n.*904G>T) c.*550G>T (n.*550G>T) c.1167G>T (p.Lys389Asn) n.1837G>T c.1284G>T (p.Lys428Asn) c.1299G>T (p.Lys433Asn) c.*1175G>T (n.*1175G>T) c.1251G>T (p.Lys417Asn) n.1513G>T c.1416G>T (p.Lys472Asn) c.1245G>T (p.Lys415Asn) c.1242G>T (p.Lys414Asn) c.1392G>T (p.Lys464Asn) c.1191G>T (p.Lys397Asn) | |
| 10 | g.69382509A>C | CA376909544 | HK1 | c.1288A>C (p.Thr430Pro) c.1204A>C (p.Thr402Pro) c.1265+2414A>C (n.1265+2414A>C) c.898A>C (p.Thr300Pro) c.*905A>C (n.*905A>C) c.*551A>C (n.*551A>C) c.1168A>C (p.Thr390Pro) n.1838A>C c.1285A>C (p.Thr429Pro) c.1300A>C (p.Thr434Pro) c.*1176A>C (n.*1176A>C) c.1252A>C (p.Thr418Pro) n.1514A>C c.1417A>C (p.Thr473Pro) c.1246A>C (p.Thr416Pro) c.1243A>C (p.Thr415Pro) c.1393A>C (p.Thr465Pro) c.1192A>C (p.Thr398Pro) | |
| 10 | g.69382509A>G | CA376909545 | HK1 | c.1288A>G (p.Thr430Ala) c.1204A>G (p.Thr402Ala) c.1265+2414A>G (n.1265+2414A>G) c.898A>G (p.Thr300Ala) c.*905A>G (n.*905A>G) c.*551A>G (n.*551A>G) c.1168A>G (p.Thr390Ala) n.1838A>G c.1285A>G (p.Thr429Ala) c.1300A>G (p.Thr434Ala) c.*1176A>G (n.*1176A>G) c.1252A>G (p.Thr418Ala) n.1514A>G c.1417A>G (p.Thr473Ala) c.1246A>G (p.Thr416Ala) c.1243A>G (p.Thr415Ala) c.1393A>G (p.Thr465Ala) c.1192A>G (p.Thr398Ala) | gnomAD v4 |
| 10 | g.69382509A>T | CA376909546 | HK1 | c.1288A>T (p.Thr430Ser) c.1204A>T (p.Thr402Ser) c.1265+2414A>T (n.1265+2414A>T) c.898A>T (p.Thr300Ser) c.*905A>T (n.*905A>T) c.*551A>T (n.*551A>T) c.1168A>T (p.Thr390Ser) n.1838A>T c.1285A>T (p.Thr429Ser) c.1300A>T (p.Thr434Ser) c.*1176A>T (n.*1176A>T) c.1252A>T (p.Thr418Ser) n.1514A>T c.1417A>T (p.Thr473Ser) c.1246A>T (p.Thr416Ser) c.1243A>T (p.Thr415Ser) c.1393A>T (p.Thr465Ser) c.1192A>T (p.Thr398Ser) | |
| 10 | g.69382510C>A | CA376909547 | HK1 | c.1289C>A (p.Thr430Asn) c.1205C>A (p.Thr402Asn) c.1265+2415C>A (n.1265+2415C>A) c.899C>A (p.Thr300Asn) c.*906C>A (n.*906C>A) c.*552C>A (n.*552C>A) c.1169C>A (p.Thr390Asn) n.1839C>A c.1286C>A (p.Thr429Asn) c.1301C>A (p.Thr434Asn) c.*1177C>A (n.*1177C>A) c.1253C>A (p.Thr418Asn) n.1515C>A c.1418C>A (p.Thr473Asn) c.1247C>A (p.Thr416Asn) c.1244C>A (p.Thr415Asn) c.1394C>A (p.Thr465Asn) c.1193C>A (p.Thr398Asn) | |
| 10 | g.69382510C= | CA1917771981 | HK1 | c.1289C= (p.Thr430=) c.1205C= (p.Thr402=) c.1265+2415C= (n.1265+2415C=) c.899C= (p.Thr300=) c.*906C= (n.*906C=) c.*552C= (n.*552C=) c.1169C= (p.Thr390=) n.1839C= c.1286C= (p.Thr429=) c.1301C= (p.Thr434=) c.*1177C= (n.*1177C=) c.1253C= (p.Thr418=) n.1515C= c.1418C= (p.Thr473=) c.1247C= (p.Thr416=) c.1244C= (p.Thr415=) c.1394C= (p.Thr465=) c.1193C= (p.Thr398=) | |
| 10 | g.69382510C>G | CA5532573 | HK1 | c.1289C>G (p.Thr430Ser) c.1205C>G (p.Thr402Ser) c.1265+2415C>G (n.1265+2415C>G) c.899C>G (p.Thr300Ser) c.*906C>G (n.*906C>G) c.*552C>G (n.*552C>G) c.1169C>G (p.Thr390Ser) n.1839C>G c.1286C>G (p.Thr429Ser) c.1301C>G (p.Thr434Ser) c.*1177C>G (n.*1177C>G) c.1253C>G (p.Thr418Ser) n.1515C>G c.1418C>G (p.Thr473Ser) c.1247C>G (p.Thr416Ser) c.1244C>G (p.Thr415Ser) c.1394C>G (p.Thr465Ser) c.1193C>G (p.Thr398Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.69382510C>T | CA376909548 | HK1 | c.1289C>T (p.Thr430Ile) c.1205C>T (p.Thr402Ile) c.1265+2415C>T (n.1265+2415C>T) c.899C>T (p.Thr300Ile) c.*906C>T (n.*906C>T) c.*552C>T (n.*552C>T) c.1169C>T (p.Thr390Ile) n.1839C>T c.1286C>T (p.Thr429Ile) c.1301C>T (p.Thr434Ile) c.*1177C>T (n.*1177C>T) c.1253C>T (p.Thr418Ile) n.1515C>T c.1418C>T (p.Thr473Ile) c.1247C>T (p.Thr416Ile) c.1244C>T (p.Thr415Ile) c.1394C>T (p.Thr465Ile) c.1193C>T (p.Thr398Ile) | ClinVar |
| 10 | g.69382511T>A | CA470276361 | HK1 | c.1290T>A (p.Thr430=) c.1206T>A (p.Thr402=) c.1265+2416T>A (n.1265+2416T>A) c.900T>A (p.Thr300=) c.*907T>A (n.*907T>A) c.*553T>A (n.*553T>A) c.1170T>A (p.Thr390=) n.1840T>A c.1287T>A (p.Thr429=) c.1302T>A (p.Thr434=) c.*1178T>A (n.*1178T>A) c.1254T>A (p.Thr418=) n.1516T>A c.1419T>A (p.Thr473=) c.1248T>A (p.Thr416=) c.1245T>A (p.Thr415=) c.1395T>A (p.Thr465=) c.1194T>A (p.Thr398=) | gnomAD v4 |
| 10 | g.69382511T>C | CA470276363 | HK1 | c.1290T>C (p.Thr430=) c.1206T>C (p.Thr402=) c.1265+2416T>C (n.1265+2416T>C) c.900T>C (p.Thr300=) c.*907T>C (n.*907T>C) c.*553T>C (n.*553T>C) c.1170T>C (p.Thr390=) n.1840T>C c.1287T>C (p.Thr429=) c.1302T>C (p.Thr434=) c.*1178T>C (n.*1178T>C) c.1254T>C (p.Thr418=) n.1516T>C c.1419T>C (p.Thr473=) c.1248T>C (p.Thr416=) c.1245T>C (p.Thr415=) c.1395T>C (p.Thr465=) c.1194T>C (p.Thr398=) | |
| 10 | g.69382511T>G | CA470276364 | HK1 | c.1290T>G (p.Thr430=) c.1206T>G (p.Thr402=) c.1265+2416T>G (n.1265+2416T>G) c.900T>G (p.Thr300=) c.*907T>G (n.*907T>G) c.*553T>G (n.*553T>G) c.1170T>G (p.Thr390=) n.1840T>G c.1287T>G (p.Thr429=) c.1302T>G (p.Thr434=) c.*1178T>G (n.*1178T>G) c.1254T>G (p.Thr418=) n.1516T>G c.1419T>G (p.Thr473=) c.1248T>G (p.Thr416=) c.1245T>G (p.Thr415=) c.1395T>G (p.Thr465=) c.1194T>G (p.Thr398=) | |
| 10 | g.69382512C>A | CA376909549 | HK1 | c.1291C>A (p.Leu431Ile) c.1207C>A (p.Leu403Ile) c.1265+2417C>A (n.1265+2417C>A) c.901C>A (p.Leu301Ile) c.*908C>A (n.*908C>A) c.*554C>A (n.*554C>A) c.1171C>A (p.Leu391Ile) n.1841C>A c.1288C>A (p.Leu430Ile) c.1303C>A (p.Leu435Ile) c.*1179C>A (n.*1179C>A) c.1255C>A (p.Leu419Ile) n.1517C>A c.1420C>A (p.Leu474Ile) c.1249C>A (p.Leu417Ile) c.1246C>A (p.Leu416Ile) c.1396C>A (p.Leu466Ile) c.1195C>A (p.Leu399Ile) | |
| 10 | g.69382512C>G | CA376909550 | HK1 | c.1291C>G (p.Leu431Val) c.1207C>G (p.Leu403Val) c.1265+2417C>G (n.1265+2417C>G) c.901C>G (p.Leu301Val) c.*908C>G (n.*908C>G) c.*554C>G (n.*554C>G) c.1171C>G (p.Leu391Val) n.1841C>G c.1288C>G (p.Leu430Val) c.1303C>G (p.Leu435Val) c.*1179C>G (n.*1179C>G) c.1255C>G (p.Leu419Val) n.1517C>G c.1420C>G (p.Leu474Val) c.1249C>G (p.Leu417Val) c.1246C>G (p.Leu416Val) c.1396C>G (p.Leu466Val) c.1195C>G (p.Leu399Val) | gnomAD v4 |
| 10 | g.69382512C>T | CA470276370 | HK1 | c.1291C>T (p.Leu431=) c.1207C>T (p.Leu403=) c.1265+2417C>T (n.1265+2417C>T) c.901C>T (p.Leu301=) c.*908C>T (n.*908C>T) c.*554C>T (n.*554C>T) c.1171C>T (p.Leu391=) n.1841C>T c.1288C>T (p.Leu430=) c.1303C>T (p.Leu435=) c.*1179C>T (n.*1179C>T) c.1255C>T (p.Leu419=) n.1517C>T c.1420C>T (p.Leu474=) c.1249C>T (p.Leu417=) c.1246C>T (p.Leu416=) c.1396C>T (p.Leu466=) c.1195C>T (p.Leu399=) | |
| 10 | g.69382513T>A | CA376909551 | HK1 | c.1292T>A (p.Leu431Gln) c.1208T>A (p.Leu403Gln) c.1265+2418T>A (n.1265+2418T>A) c.902T>A (p.Leu301Gln) c.*909T>A (n.*909T>A) c.*555T>A (n.*555T>A) c.1172T>A (p.Leu391Gln) n.1842T>A c.1289T>A (p.Leu430Gln) c.1304T>A (p.Leu435Gln) c.*1180T>A (n.*1180T>A) c.1256T>A (p.Leu419Gln) n.1518T>A c.1421T>A (p.Leu474Gln) c.1250T>A (p.Leu417Gln) c.1247T>A (p.Leu416Gln) c.1397T>A (p.Leu466Gln) c.1196T>A (p.Leu399Gln) | |
| 10 | g.69382513T>C | CA376909552 | HK1 | c.1292T>C (p.Leu431Pro) c.1208T>C (p.Leu403Pro) c.1265+2418T>C (n.1265+2418T>C) c.902T>C (p.Leu301Pro) c.*909T>C (n.*909T>C) c.*555T>C (n.*555T>C) c.1172T>C (p.Leu391Pro) n.1842T>C c.1289T>C (p.Leu430Pro) c.1304T>C (p.Leu435Pro) c.*1180T>C (n.*1180T>C) c.1256T>C (p.Leu419Pro) n.1518T>C c.1421T>C (p.Leu474Pro) c.1250T>C (p.Leu417Pro) c.1247T>C (p.Leu416Pro) c.1397T>C (p.Leu466Pro) c.1196T>C (p.Leu399Pro) | |
| 10 | g.69382513T>G | CA376909553 | HK1 | c.1292T>G (p.Leu431Arg) c.1208T>G (p.Leu403Arg) c.1265+2418T>G (n.1265+2418T>G) c.902T>G (p.Leu301Arg) c.*909T>G (n.*909T>G) c.*555T>G (n.*555T>G) c.1172T>G (p.Leu391Arg) n.1842T>G c.1289T>G (p.Leu430Arg) c.1304T>G (p.Leu435Arg) c.*1180T>G (n.*1180T>G) c.1256T>G (p.Leu419Arg) n.1518T>G c.1421T>G (p.Leu474Arg) c.1250T>G (p.Leu417Arg) c.1247T>G (p.Leu416Arg) c.1397T>G (p.Leu466Arg) c.1196T>G (p.Leu399Arg) | |
| 10 | g.69382514A>C | CA470276371 | HK1 | c.1293A>C (p.Leu431=) c.1209A>C (p.Leu403=) c.1265+2419A>C (n.1265+2419A>C) c.903A>C (p.Leu301=) c.*910A>C (n.*910A>C) c.*556A>C (n.*556A>C) c.1173A>C (p.Leu391=) n.1843A>C c.1290A>C (p.Leu430=) c.1305A>C (p.Leu435=) c.*1181A>C (n.*1181A>C) c.1257A>C (p.Leu419=) n.1519A>C c.1422A>C (p.Leu474=) c.1251A>C (p.Leu417=) c.1248A>C (p.Leu416=) c.1398A>C (p.Leu466=) c.1197A>C (p.Leu399=) | |
| 10 | g.69382514A>G | CA470276372 | HK1 | c.1293A>G (p.Leu431=) c.1209A>G (p.Leu403=) c.1265+2419A>G (n.1265+2419A>G) c.903A>G (p.Leu301=) c.*910A>G (n.*910A>G) c.*556A>G (n.*556A>G) c.1173A>G (p.Leu391=) n.1843A>G c.1290A>G (p.Leu430=) c.1305A>G (p.Leu435=) c.*1181A>G (n.*1181A>G) c.1257A>G (p.Leu419=) n.1519A>G c.1422A>G (p.Leu474=) c.1251A>G (p.Leu417=) c.1248A>G (p.Leu416=) c.1398A>G (p.Leu466=) c.1197A>G (p.Leu399=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.69382514A>T | CA470276374 | HK1 | c.1293A>T (p.Leu431=) c.1209A>T (p.Leu403=) c.1265+2419A>T (n.1265+2419A>T) c.903A>T (p.Leu301=) c.*910A>T (n.*910A>T) c.*556A>T (n.*556A>T) c.1173A>T (p.Leu391=) n.1843A>T c.1290A>T (p.Leu430=) c.1305A>T (p.Leu435=) c.*1181A>T (n.*1181A>T) c.1257A>T (p.Leu419=) n.1519A>T c.1422A>T (p.Leu474=) c.1251A>T (p.Leu417=) c.1248A>T (p.Leu416=) c.1398A>T (p.Leu466=) c.1197A>T (p.Leu399=) | |
| 10 | g.69382515A>C | CA470276377 | HK1 | c.1294A>C (p.Arg432=) c.1210A>C (p.Arg404=) c.1265+2420A>C (n.1265+2420A>C) c.904A>C (p.Arg302=) c.*911A>C (n.*911A>C) c.*557A>C (n.*557A>C) c.1174A>C (p.Arg392=) n.1844A>C c.1291A>C (p.Arg431=) c.1306A>C (p.Arg436=) c.*1182A>C (n.*1182A>C) c.1258A>C (p.Arg420=) n.1520A>C c.1423A>C (p.Arg475=) c.1252A>C (p.Arg418=) c.1249A>C (p.Arg417=) c.1399A>C (p.Arg467=) c.1198A>C (p.Arg400=) | |
| 10 | g.69382515A>G | CA376909554 | HK1 | c.1294A>G (p.Arg432Gly) c.1210A>G (p.Arg404Gly) c.1265+2420A>G (n.1265+2420A>G) c.904A>G (p.Arg302Gly) c.*911A>G (n.*911A>G) c.*557A>G (n.*557A>G) c.1174A>G (p.Arg392Gly) n.1844A>G c.1291A>G (p.Arg431Gly) c.1306A>G (p.Arg436Gly) c.*1182A>G (n.*1182A>G) c.1258A>G (p.Arg420Gly) n.1520A>G c.1423A>G (p.Arg475Gly) c.1252A>G (p.Arg418Gly) c.1249A>G (p.Arg417Gly) c.1399A>G (p.Arg467Gly) c.1198A>G (p.Arg400Gly) |