Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.69382617C>A | CA376909771 | HK1 | c.1396C>A (p.Gln466Lys) c.1312C>A (p.Gln438Lys) c.1265+2522C>A (n.1265+2522C>A) c.1006C>A (p.Gln336Lys) c.*1013C>A (n.*1013C>A) c.*659C>A (n.*659C>A) c.1276C>A (p.Gln426Lys) n.1946C>A c.1393C>A (p.Gln465Lys) c.1408C>A (p.Gln470Lys) c.*1284C>A (n.*1284C>A) c.1360C>A (p.Gln454Lys) n.1622C>A c.1525C>A (p.Gln509Lys) c.1354C>A (p.Gln452Lys) c.1351C>A (p.Gln451Lys) c.1501C>A (p.Gln501Lys) c.1300C>A (p.Gln434Lys) | |
10 | g.69382617C>G | CA376909773 | HK1 | c.1396C>G (p.Gln466Glu) c.1312C>G (p.Gln438Glu) c.1265+2522C>G (n.1265+2522C>G) c.1006C>G (p.Gln336Glu) c.*1013C>G (n.*1013C>G) c.*659C>G (n.*659C>G) c.1276C>G (p.Gln426Glu) n.1946C>G c.1393C>G (p.Gln465Glu) c.1408C>G (p.Gln470Glu) c.*1284C>G (n.*1284C>G) c.1360C>G (p.Gln454Glu) n.1622C>G c.1525C>G (p.Gln509Glu) c.1354C>G (p.Gln452Glu) c.1351C>G (p.Gln451Glu) c.1501C>G (p.Gln501Glu) c.1300C>G (p.Gln434Glu) | |
10 | g.69382617C>T | CA376909772 | HK1 | c.1396C>T (p.Gln466Ter) c.1312C>T (p.Gln438Ter) c.1265+2522C>T (n.1265+2522C>T) c.1006C>T (p.Gln336Ter) c.*1013C>T (n.*1013C>T) c.*659C>T (n.*659C>T) c.1276C>T (p.Gln426Ter) n.1946C>T c.1393C>T (p.Gln465Ter) c.1408C>T (p.Gln470Ter) c.*1284C>T (n.*1284C>T) c.1360C>T (p.Gln454Ter) n.1622C>T c.1525C>T (p.Gln509Ter) c.1354C>T (p.Gln452Ter) c.1351C>T (p.Gln451Ter) c.1501C>T (p.Gln501Ter) c.1300C>T (p.Gln434Ter) | |
10 | g.69382618A>C | CA376909774 | HK1 | c.1397A>C (p.Gln466Pro) c.1313A>C (p.Gln438Pro) c.1265+2523A>C (n.1265+2523A>C) c.1007A>C (p.Gln336Pro) c.*1014A>C (n.*1014A>C) c.*660A>C (n.*660A>C) c.1277A>C (p.Gln426Pro) n.1947A>C c.1394A>C (p.Gln465Pro) c.1409A>C (p.Gln470Pro) c.*1285A>C (n.*1285A>C) c.1361A>C (p.Gln454Pro) n.1623A>C c.1526A>C (p.Gln509Pro) c.1355A>C (p.Gln452Pro) c.1352A>C (p.Gln451Pro) c.1502A>C (p.Gln501Pro) c.1301A>C (p.Gln434Pro) | |
10 | g.69382618A>G | CA376909775 | HK1 | c.1397A>G (p.Gln466Arg) c.1313A>G (p.Gln438Arg) c.1265+2523A>G (n.1265+2523A>G) c.1007A>G (p.Gln336Arg) c.*1014A>G (n.*1014A>G) c.*660A>G (n.*660A>G) c.1277A>G (p.Gln426Arg) n.1947A>G c.1394A>G (p.Gln465Arg) c.1409A>G (p.Gln470Arg) c.*1285A>G (n.*1285A>G) c.1361A>G (p.Gln454Arg) n.1623A>G c.1526A>G (p.Gln509Arg) c.1355A>G (p.Gln452Arg) c.1352A>G (p.Gln451Arg) c.1502A>G (p.Gln501Arg) c.1301A>G (p.Gln434Arg) | gnomAD v4 |
10 | g.69382618A>T | CA376909776 | HK1 | c.1397A>T (p.Gln466Leu) c.1313A>T (p.Gln438Leu) c.1265+2523A>T (n.1265+2523A>T) c.1007A>T (p.Gln336Leu) c.*1014A>T (n.*1014A>T) c.*660A>T (n.*660A>T) c.1277A>T (p.Gln426Leu) n.1947A>T c.1394A>T (p.Gln465Leu) c.1409A>T (p.Gln470Leu) c.*1285A>T (n.*1285A>T) c.1361A>T (p.Gln454Leu) n.1623A>T c.1526A>T (p.Gln509Leu) c.1355A>T (p.Gln452Leu) c.1352A>T (p.Gln451Leu) c.1502A>T (p.Gln501Leu) c.1301A>T (p.Gln434Leu) | |
10 | g.69382619G>A | CA470276554 | HK1 | c.1398G>A (p.Gln466=) c.1314G>A (p.Gln438=) c.1265+2524G>A (n.1265+2524G>A) c.1008G>A (p.Gln336=) c.*1015G>A (n.*1015G>A) c.*661G>A (n.*661G>A) c.1278G>A (p.Gln426=) n.1948G>A c.1395G>A (p.Gln465=) c.1410G>A (p.Gln470=) c.*1286G>A (n.*1286G>A) c.1362G>A (p.Gln454=) n.1624G>A c.1527G>A (p.Gln509=) c.1356G>A (p.Gln452=) c.1353G>A (p.Gln451=) c.1503G>A (p.Gln501=) c.1302G>A (p.Gln434=) | gnomAD v4 |
10 | g.69382619G>C | CA376909777 | HK1 | c.1398G>C (p.Gln466His) c.1314G>C (p.Gln438His) c.1265+2524G>C (n.1265+2524G>C) c.1008G>C (p.Gln336His) c.*1015G>C (n.*1015G>C) c.*661G>C (n.*661G>C) c.1278G>C (p.Gln426His) n.1948G>C c.1395G>C (p.Gln465His) c.1410G>C (p.Gln470His) c.*1286G>C (n.*1286G>C) c.1362G>C (p.Gln454His) n.1624G>C c.1527G>C (p.Gln509His) c.1356G>C (p.Gln452His) c.1353G>C (p.Gln451His) c.1503G>C (p.Gln501His) c.1302G>C (p.Gln434His) | |
10 | g.69382619G>T | CA376909778 | HK1 | c.1398G>T (p.Gln466His) c.1314G>T (p.Gln438His) c.1265+2524G>T (n.1265+2524G>T) c.1008G>T (p.Gln336His) c.*1015G>T (n.*1015G>T) c.*661G>T (n.*661G>T) c.1278G>T (p.Gln426His) n.1948G>T c.1395G>T (p.Gln465His) c.1410G>T (p.Gln470His) c.*1286G>T (n.*1286G>T) c.1362G>T (p.Gln454His) n.1624G>T c.1527G>T (p.Gln509His) c.1356G>T (p.Gln452His) c.1353G>T (p.Gln451His) c.1503G>T (p.Gln501His) c.1302G>T (p.Gln434His) | |
10 | g.69382620C>A | CA376909779 | HK1 | c.1399C>A (p.His467Asn) c.1315C>A (p.His439Asn) c.1265+2525C>A (n.1265+2525C>A) c.1009C>A (p.His337Asn) c.*1016C>A (n.*1016C>A) c.*662C>A (n.*662C>A) c.1279C>A (p.His427Asn) n.1949C>A c.1396C>A (p.His466Asn) c.1411C>A (p.His471Asn) c.*1287C>A (n.*1287C>A) c.1363C>A (p.His455Asn) n.1625C>A c.1528C>A (p.His510Asn) c.1357C>A (p.His453Asn) c.1354C>A (p.His452Asn) c.1504C>A (p.His502Asn) c.1303C>A (p.His435Asn) | |
10 | g.69382620C>G | CA376909780 | HK1 | c.1399C>G (p.His467Asp) c.1315C>G (p.His439Asp) c.1265+2525C>G (n.1265+2525C>G) c.1009C>G (p.His337Asp) c.*1016C>G (n.*1016C>G) c.*662C>G (n.*662C>G) c.1279C>G (p.His427Asp) n.1949C>G c.1396C>G (p.His466Asp) c.1411C>G (p.His471Asp) c.*1287C>G (n.*1287C>G) c.1363C>G (p.His455Asp) n.1625C>G c.1528C>G (p.His510Asp) c.1357C>G (p.His453Asp) c.1354C>G (p.His452Asp) c.1504C>G (p.His502Asp) c.1303C>G (p.His435Asp) | |
10 | g.69382620C>T | CA376909781 | HK1 | c.1399C>T (p.His467Tyr) c.1315C>T (p.His439Tyr) c.1265+2525C>T (n.1265+2525C>T) c.1009C>T (p.His337Tyr) c.*1016C>T (n.*1016C>T) c.*662C>T (n.*662C>T) c.1279C>T (p.His427Tyr) n.1949C>T c.1396C>T (p.His466Tyr) c.1411C>T (p.His471Tyr) c.*1287C>T (n.*1287C>T) c.1363C>T (p.His455Tyr) n.1625C>T c.1528C>T (p.His510Tyr) c.1357C>T (p.His453Tyr) c.1354C>T (p.His452Tyr) c.1504C>T (p.His502Tyr) c.1303C>T (p.His435Tyr) | dbSNP |
10 | g.69382621A= | CA1917772119 | HK1 | c.1400A= (p.His467=) c.1316A= (p.His439=) c.1265+2526A= (n.1265+2526A=) c.1010A= (p.His337=) c.*1017A= (n.*1017A=) c.*663A= (n.*663A=) c.1280A= (p.His427=) n.1950A= c.1397A= (p.His466=) c.1412A= (p.His471=) c.*1288A= (n.*1288A=) c.1364A= (p.His455=) n.1626A= c.1529A= (p.His510=) c.1358A= (p.His453=) c.1355A= (p.His452=) c.1505A= (p.His502=) c.1304A= (p.His435=) | |
10 | g.69382621A>C | CA376909782 | HK1 | c.1400A>C (p.His467Pro) c.1316A>C (p.His439Pro) c.1265+2526A>C (n.1265+2526A>C) c.1010A>C (p.His337Pro) c.*1017A>C (n.*1017A>C) c.*663A>C (n.*663A>C) c.1280A>C (p.His427Pro) n.1950A>C c.1397A>C (p.His466Pro) c.1412A>C (p.His471Pro) c.*1288A>C (n.*1288A>C) c.1364A>C (p.His455Pro) n.1626A>C c.1529A>C (p.His510Pro) c.1358A>C (p.His453Pro) c.1355A>C (p.His452Pro) c.1505A>C (p.His502Pro) c.1304A>C (p.His435Pro) | |
10 | g.69382621A>G | CA376909783 | HK1 | c.1400A>G (p.His467Arg) c.1316A>G (p.His439Arg) c.1265+2526A>G (n.1265+2526A>G) c.1010A>G (p.His337Arg) c.*1017A>G (n.*1017A>G) c.*663A>G (n.*663A>G) c.1280A>G (p.His427Arg) n.1950A>G c.1397A>G (p.His466Arg) c.1412A>G (p.His471Arg) c.*1288A>G (n.*1288A>G) c.1364A>G (p.His455Arg) n.1626A>G c.1529A>G (p.His510Arg) c.1358A>G (p.His453Arg) c.1355A>G (p.His452Arg) c.1505A>G (p.His502Arg) c.1304A>G (p.His435Arg) | |
10 | g.69382621A>T | CA209213185 | HK1 | c.1400A>T (p.His467Leu) c.1316A>T (p.His439Leu) c.1265+2526A>T (n.1265+2526A>T) c.1010A>T (p.His337Leu) c.*1017A>T (n.*1017A>T) c.*663A>T (n.*663A>T) c.1280A>T (p.His427Leu) n.1950A>T c.1397A>T (p.His466Leu) c.1412A>T (p.His471Leu) c.*1288A>T (n.*1288A>T) c.1364A>T (p.His455Leu) n.1626A>T c.1529A>T (p.His510Leu) c.1358A>T (p.His453Leu) c.1355A>T (p.His452Leu) c.1505A>T (p.His502Leu) c.1304A>T (p.His435Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382622C>A | CA376909784 | HK1 | c.1401C>A (p.His467Gln) c.1317C>A (p.His439Gln) c.1265+2527C>A (n.1265+2527C>A) c.1011C>A (p.His337Gln) c.*1018C>A (n.*1018C>A) c.*664C>A (n.*664C>A) c.1281C>A (p.His427Gln) n.1951C>A c.1398C>A (p.His466Gln) c.1413C>A (p.His471Gln) c.*1289C>A (n.*1289C>A) c.1365C>A (p.His455Gln) n.1627C>A c.1530C>A (p.His510Gln) c.1359C>A (p.His453Gln) c.1356C>A (p.His452Gln) c.1506C>A (p.His502Gln) c.1305C>A (p.His435Gln) | |
10 | g.69382622C>G | CA376909785 | HK1 | c.1401C>G (p.His467Gln) c.1317C>G (p.His439Gln) c.1265+2527C>G (n.1265+2527C>G) c.1011C>G (p.His337Gln) c.*1018C>G (n.*1018C>G) c.*664C>G (n.*664C>G) c.1281C>G (p.His427Gln) n.1951C>G c.1398C>G (p.His466Gln) c.1413C>G (p.His471Gln) c.*1289C>G (n.*1289C>G) c.1365C>G (p.His455Gln) n.1627C>G c.1530C>G (p.His510Gln) c.1359C>G (p.His453Gln) c.1356C>G (p.His452Gln) c.1506C>G (p.His502Gln) c.1305C>G (p.His435Gln) | gnomAD v4 |
10 | g.69382622C>T | CA470276568 | HK1 | c.1401C>T (p.His467=) c.1317C>T (p.His439=) c.1265+2527C>T (n.1265+2527C>T) c.1011C>T (p.His337=) c.*1018C>T (n.*1018C>T) c.*664C>T (n.*664C>T) c.1281C>T (p.His427=) n.1951C>T c.1398C>T (p.His466=) c.1413C>T (p.His471=) c.*1289C>T (n.*1289C>T) c.1365C>T (p.His455=) n.1627C>T c.1530C>T (p.His510=) c.1359C>T (p.His453=) c.1356C>T (p.His452=) c.1506C>T (p.His502=) c.1305C>T (p.His435=) | ClinVar gnomAD v4 |
10 | g.69382623C>A | CA470276569 | HK1 | c.1402C>A (p.Arg468=) c.1318C>A (p.Arg440=) c.1265+2528C>A (n.1265+2528C>A) c.1012C>A (p.Arg338=) c.*1019C>A (n.*1019C>A) c.*665C>A (n.*665C>A) c.1282C>A (p.Arg428=) n.1952C>A c.1399C>A (p.Arg467=) c.1414C>A (p.Arg472=) c.*1290C>A (n.*1290C>A) c.1366C>A (p.Arg456=) n.1628C>A c.1531C>A (p.Arg511=) c.1360C>A (p.Arg454=) c.1357C>A (p.Arg453=) c.1507C>A (p.Arg503=) c.1306C>A (p.Arg436=) | |
10 | g.69382623C= | CA1917772124 | HK1 | c.1402C= (p.Arg468=) c.1318C= (p.Arg440=) c.1265+2528C= (n.1265+2528C=) c.1012C= (p.Arg338=) c.*1019C= (n.*1019C=) c.*665C= (n.*665C=) c.1282C= (p.Arg428=) n.1952C= c.1399C= (p.Arg467=) c.1414C= (p.Arg472=) c.*1290C= (n.*1290C=) c.1366C= (p.Arg456=) n.1628C= c.1531C= (p.Arg511=) c.1360C= (p.Arg454=) c.1357C= (p.Arg453=) c.1507C= (p.Arg503=) c.1306C= (p.Arg436=) | |
10 | g.69382623C>G | CA376909786 | HK1 | c.1402C>G (p.Arg468Gly) c.1318C>G (p.Arg440Gly) c.1265+2528C>G (n.1265+2528C>G) c.1012C>G (p.Arg338Gly) c.*1019C>G (n.*1019C>G) c.*665C>G (n.*665C>G) c.1282C>G (p.Arg428Gly) n.1952C>G c.1399C>G (p.Arg467Gly) c.1414C>G (p.Arg472Gly) c.*1290C>G (n.*1290C>G) c.1366C>G (p.Arg456Gly) n.1628C>G c.1531C>G (p.Arg511Gly) c.1360C>G (p.Arg454Gly) c.1357C>G (p.Arg453Gly) c.1507C>G (p.Arg503Gly) c.1306C>G (p.Arg436Gly) | |
10 | g.69382623C>T | CA5532593 | HK1 | c.1402C>T (p.Arg468Trp) c.1318C>T (p.Arg440Trp) c.1265+2528C>T (n.1265+2528C>T) c.1012C>T (p.Arg338Trp) c.*1019C>T (n.*1019C>T) c.*665C>T (n.*665C>T) c.1282C>T (p.Arg428Trp) n.1952C>T c.1399C>T (p.Arg467Trp) c.1414C>T (p.Arg472Trp) c.*1290C>T (n.*1290C>T) c.1366C>T (p.Arg456Trp) n.1628C>T c.1531C>T (p.Arg511Trp) c.1360C>T (p.Arg454Trp) c.1357C>T (p.Arg453Trp) c.1507C>T (p.Arg503Trp) c.1306C>T (p.Arg436Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382624G>A | CA376909787 | HK1 | c.1403G>A (p.Arg468Gln) c.1319G>A (p.Arg440Gln) c.1265+2529G>A (n.1265+2529G>A) c.1013G>A (p.Arg338Gln) c.*1020G>A (n.*1020G>A) c.*666G>A (n.*666G>A) c.1283G>A (p.Arg428Gln) n.1953G>A c.1400G>A (p.Arg467Gln) c.1415G>A (p.Arg472Gln) c.*1291G>A (n.*1291G>A) c.1367G>A (p.Arg456Gln) n.1629G>A c.1532G>A (p.Arg511Gln) c.1361G>A (p.Arg454Gln) c.1358G>A (p.Arg453Gln) c.1508G>A (p.Arg503Gln) c.1307G>A (p.Arg436Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
10 | g.69382624G>C | CA376909789 | HK1 | c.1403G>C (p.Arg468Pro) c.1319G>C (p.Arg440Pro) c.1265+2529G>C (n.1265+2529G>C) c.1013G>C (p.Arg338Pro) c.*1020G>C (n.*1020G>C) c.*666G>C (n.*666G>C) c.1283G>C (p.Arg428Pro) n.1953G>C c.1400G>C (p.Arg467Pro) c.1415G>C (p.Arg472Pro) c.*1291G>C (n.*1291G>C) c.1367G>C (p.Arg456Pro) n.1629G>C c.1532G>C (p.Arg511Pro) c.1361G>C (p.Arg454Pro) c.1358G>C (p.Arg453Pro) c.1508G>C (p.Arg503Pro) c.1307G>C (p.Arg436Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.69382624G= | CA1917772131 | HK1 | c.1403G= (p.Arg468=) c.1319G= (p.Arg440=) c.1265+2529G= (n.1265+2529G=) c.1013G= (p.Arg338=) c.*1020G= (n.*1020G=) c.*666G= (n.*666G=) c.1283G= (p.Arg428=) n.1953G= c.1400G= (p.Arg467=) c.1415G= (p.Arg472=) c.*1291G= (n.*1291G=) c.1367G= (p.Arg456=) n.1629G= c.1532G= (p.Arg511=) c.1361G= (p.Arg454=) c.1358G= (p.Arg453=) c.1508G= (p.Arg503=) c.1307G= (p.Arg436=) | |
10 | g.69382624G>T | CA376909788 | HK1 | c.1403G>T (p.Arg468Leu) c.1319G>T (p.Arg440Leu) c.1265+2529G>T (n.1265+2529G>T) c.1013G>T (p.Arg338Leu) c.*1020G>T (n.*1020G>T) c.*666G>T (n.*666G>T) c.1283G>T (p.Arg428Leu) n.1953G>T c.1400G>T (p.Arg467Leu) c.1415G>T (p.Arg472Leu) c.*1291G>T (n.*1291G>T) c.1367G>T (p.Arg456Leu) n.1629G>T c.1532G>T (p.Arg511Leu) c.1361G>T (p.Arg454Leu) c.1358G>T (p.Arg453Leu) c.1508G>T (p.Arg503Leu) c.1307G>T (p.Arg436Leu) | |
10 | g.69382625G>A | CA470276572 | HK1 | c.1404G>A (p.Arg468=) c.1320G>A (p.Arg440=) c.1265+2530G>A (n.1265+2530G>A) c.1014G>A (p.Arg338=) c.*1021G>A (n.*1021G>A) c.*667G>A (n.*667G>A) c.1284G>A (p.Arg428=) n.1954G>A c.1401G>A (p.Arg467=) c.1416G>A (p.Arg472=) c.*1292G>A (n.*1292G>A) c.1368G>A (p.Arg456=) n.1630G>A c.1533G>A (p.Arg511=) c.1362G>A (p.Arg454=) c.1359G>A (p.Arg453=) c.1509G>A (p.Arg503=) c.1308G>A (p.Arg436=) | |
10 | g.69382625G>C | CA470276573 | HK1 | c.1404G>C (p.Arg468=) c.1320G>C (p.Arg440=) c.1265+2530G>C (n.1265+2530G>C) c.1014G>C (p.Arg338=) c.*1021G>C (n.*1021G>C) c.*667G>C (n.*667G>C) c.1284G>C (p.Arg428=) n.1954G>C c.1401G>C (p.Arg467=) c.1416G>C (p.Arg472=) c.*1292G>C (n.*1292G>C) c.1368G>C (p.Arg456=) n.1630G>C c.1533G>C (p.Arg511=) c.1362G>C (p.Arg454=) c.1359G>C (p.Arg453=) c.1509G>C (p.Arg503=) c.1308G>C (p.Arg436=) | |
10 | g.69382625G>T | CA470276574 | HK1 | c.1404G>T (p.Arg468=) c.1320G>T (p.Arg440=) c.1265+2530G>T (n.1265+2530G>T) c.1014G>T (p.Arg338=) c.*1021G>T (n.*1021G>T) c.*667G>T (n.*667G>T) c.1284G>T (p.Arg428=) n.1954G>T c.1401G>T (p.Arg467=) c.1416G>T (p.Arg472=) c.*1292G>T (n.*1292G>T) c.1368G>T (p.Arg456=) n.1630G>T c.1533G>T (p.Arg511=) c.1362G>T (p.Arg454=) c.1359G>T (p.Arg453=) c.1509G>T (p.Arg503=) c.1308G>T (p.Arg436=) | COSMIC COSMIC COSMIC COSMIC |
10 | g.69382626C>A | CA376909790 | HK1 | c.1405C>A (p.Gln469Lys) c.1321C>A (p.Gln441Lys) c.1265+2531C>A (n.1265+2531C>A) c.1015C>A (p.Gln339Lys) c.*1022C>A (n.*1022C>A) c.*668C>A (n.*668C>A) c.1285C>A (p.Gln429Lys) n.1955C>A c.1402C>A (p.Gln468Lys) c.1417C>A (p.Gln473Lys) c.*1293C>A (n.*1293C>A) c.1369C>A (p.Gln457Lys) n.1631C>A c.1534C>A (p.Gln512Lys) c.1363C>A (p.Gln455Lys) c.1360C>A (p.Gln454Lys) c.1510C>A (p.Gln504Lys) c.1309C>A (p.Gln437Lys) | |
10 | g.69382626C>G | CA376909791 | HK1 | c.1405C>G (p.Gln469Glu) c.1321C>G (p.Gln441Glu) c.1265+2531C>G (n.1265+2531C>G) c.1015C>G (p.Gln339Glu) c.*1022C>G (n.*1022C>G) c.*668C>G (n.*668C>G) c.1285C>G (p.Gln429Glu) n.1955C>G c.1402C>G (p.Gln468Glu) c.1417C>G (p.Gln473Glu) c.*1293C>G (n.*1293C>G) c.1369C>G (p.Gln457Glu) n.1631C>G c.1534C>G (p.Gln512Glu) c.1363C>G (p.Gln455Glu) c.1360C>G (p.Gln454Glu) c.1510C>G (p.Gln504Glu) c.1309C>G (p.Gln437Glu) | |
10 | g.69382626C>T | CA376909792 | HK1 | c.1405C>T (p.Gln469Ter) c.1321C>T (p.Gln441Ter) c.1265+2531C>T (n.1265+2531C>T) c.1015C>T (p.Gln339Ter) c.*1022C>T (n.*1022C>T) c.*668C>T (n.*668C>T) c.1285C>T (p.Gln429Ter) n.1955C>T c.1402C>T (p.Gln468Ter) c.1417C>T (p.Gln473Ter) c.*1293C>T (n.*1293C>T) c.1369C>T (p.Gln457Ter) n.1631C>T c.1534C>T (p.Gln512Ter) c.1363C>T (p.Gln455Ter) c.1360C>T (p.Gln454Ter) c.1510C>T (p.Gln504Ter) c.1309C>T (p.Gln437Ter) | |
10 | g.69382627A= | CA1917772133 | HK1 | c.1406A= (p.Gln469=) c.1322A= (p.Gln441=) c.1265+2532A= (n.1265+2532A=) c.1016A= (p.Gln339=) c.*1023A= (n.*1023A=) c.*669A= (n.*669A=) c.1286A= (p.Gln429=) n.1956A= c.1403A= (p.Gln468=) c.1418A= (p.Gln473=) c.*1294A= (n.*1294A=) c.1370A= (p.Gln457=) n.1632A= c.1535A= (p.Gln512=) c.1364A= (p.Gln455=) c.1361A= (p.Gln454=) c.1511A= (p.Gln504=) c.1310A= (p.Gln437=) | |
10 | g.69382627A>C | CA376909793 | HK1 | c.1406A>C (p.Gln469Pro) c.1322A>C (p.Gln441Pro) c.1265+2532A>C (n.1265+2532A>C) c.1016A>C (p.Gln339Pro) c.*1023A>C (n.*1023A>C) c.*669A>C (n.*669A>C) c.1286A>C (p.Gln429Pro) n.1956A>C c.1403A>C (p.Gln468Pro) c.1418A>C (p.Gln473Pro) c.*1294A>C (n.*1294A>C) c.1370A>C (p.Gln457Pro) n.1632A>C c.1535A>C (p.Gln512Pro) c.1364A>C (p.Gln455Pro) c.1361A>C (p.Gln454Pro) c.1511A>C (p.Gln504Pro) c.1310A>C (p.Gln437Pro) | |
10 | g.69382627A>G | CA376909794 | HK1 | c.1406A>G (p.Gln469Arg) c.1322A>G (p.Gln441Arg) c.1265+2532A>G (n.1265+2532A>G) c.1016A>G (p.Gln339Arg) c.*1023A>G (n.*1023A>G) c.*669A>G (n.*669A>G) c.1286A>G (p.Gln429Arg) n.1956A>G c.1403A>G (p.Gln468Arg) c.1418A>G (p.Gln473Arg) c.*1294A>G (n.*1294A>G) c.1370A>G (p.Gln457Arg) n.1632A>G c.1535A>G (p.Gln512Arg) c.1364A>G (p.Gln455Arg) c.1361A>G (p.Gln454Arg) c.1511A>G (p.Gln504Arg) c.1310A>G (p.Gln437Arg) | ClinVar dbSNP |
10 | g.69382627A>T | CA376909795 | HK1 | c.1406A>T (p.Gln469Leu) c.1322A>T (p.Gln441Leu) c.1265+2532A>T (n.1265+2532A>T) c.1016A>T (p.Gln339Leu) c.*1023A>T (n.*1023A>T) c.*669A>T (n.*669A>T) c.1286A>T (p.Gln429Leu) n.1956A>T c.1403A>T (p.Gln468Leu) c.1418A>T (p.Gln473Leu) c.*1294A>T (n.*1294A>T) c.1370A>T (p.Gln457Leu) n.1632A>T c.1535A>T (p.Gln512Leu) c.1364A>T (p.Gln455Leu) c.1361A>T (p.Gln454Leu) c.1511A>T (p.Gln504Leu) c.1310A>T (p.Gln437Leu) | |
10 | g.69382628G>A | CA470276576 | HK1 | c.1407G>A (p.Gln469=) c.1323G>A (p.Gln441=) c.1265+2533G>A (n.1265+2533G>A) c.1017G>A (p.Gln339=) c.*1024G>A (n.*1024G>A) c.*670G>A (n.*670G>A) c.1287G>A (p.Gln429=) n.1957G>A c.1404G>A (p.Gln468=) c.1419G>A (p.Gln473=) c.*1295G>A (n.*1295G>A) c.1371G>A (p.Gln457=) n.1633G>A c.1536G>A (p.Gln512=) c.1365G>A (p.Gln455=) c.1362G>A (p.Gln454=) c.1512G>A (p.Gln504=) c.1311G>A (p.Gln437=) | |
10 | g.69382628G>C | CA376909796 | HK1 | c.1407G>C (p.Gln469His) c.1323G>C (p.Gln441His) c.1265+2533G>C (n.1265+2533G>C) c.1017G>C (p.Gln339His) c.*1024G>C (n.*1024G>C) c.*670G>C (n.*670G>C) c.1287G>C (p.Gln429His) n.1957G>C c.1404G>C (p.Gln468His) c.1419G>C (p.Gln473His) c.*1295G>C (n.*1295G>C) c.1371G>C (p.Gln457His) n.1633G>C c.1536G>C (p.Gln512His) c.1365G>C (p.Gln455His) c.1362G>C (p.Gln454His) c.1512G>C (p.Gln504His) c.1311G>C (p.Gln437His) | |
10 | g.69382628G>T | CA376909797 | HK1 | c.1407G>T (p.Gln469His) c.1323G>T (p.Gln441His) c.1265+2533G>T (n.1265+2533G>T) c.1017G>T (p.Gln339His) c.*1024G>T (n.*1024G>T) c.*670G>T (n.*670G>T) c.1287G>T (p.Gln429His) n.1957G>T c.1404G>T (p.Gln468His) c.1419G>T (p.Gln473His) c.*1295G>T (n.*1295G>T) c.1371G>T (p.Gln457His) n.1633G>T c.1536G>T (p.Gln512His) c.1365G>T (p.Gln455His) c.1362G>T (p.Gln454His) c.1512G>T (p.Gln504His) c.1311G>T (p.Gln437His) | |
10 | g.69382629A= | CA1917772136 | HK1 | c.1408A= (p.Ile470=) c.1324A= (p.Ile442=) c.1265+2534A= (n.1265+2534A=) c.1018A= (p.Ile340=) c.*1025A= (n.*1025A=) c.*671A= (n.*671A=) c.1288A= (p.Ile430=) n.1958A= c.1405A= (p.Ile469=) c.1420A= (p.Ile474=) c.*1296A= (n.*1296A=) c.1372A= (p.Ile458=) n.1634A= c.1537A= (p.Ile513=) c.1366A= (p.Ile456=) c.1363A= (p.Ile455=) c.1513A= (p.Ile505=) c.1312A= (p.Ile438=) | |
10 | g.69382629A>C | CA376909801 | HK1 | c.1408A>C (p.Ile470Leu) c.1324A>C (p.Ile442Leu) c.1265+2534A>C (n.1265+2534A>C) c.1018A>C (p.Ile340Leu) c.*1025A>C (n.*1025A>C) c.*671A>C (n.*671A>C) c.1288A>C (p.Ile430Leu) n.1958A>C c.1405A>C (p.Ile469Leu) c.1420A>C (p.Ile474Leu) c.*1296A>C (n.*1296A>C) c.1372A>C (p.Ile458Leu) n.1634A>C c.1537A>C (p.Ile513Leu) c.1366A>C (p.Ile456Leu) c.1363A>C (p.Ile455Leu) c.1513A>C (p.Ile505Leu) c.1312A>C (p.Ile438Leu) | |
10 | g.69382629A>G | CA5532594 | HK1 | c.1408A>G (p.Ile470Val) c.1324A>G (p.Ile442Val) c.1265+2534A>G (n.1265+2534A>G) c.1018A>G (p.Ile340Val) c.*1025A>G (n.*1025A>G) c.*671A>G (n.*671A>G) c.1288A>G (p.Ile430Val) n.1958A>G c.1405A>G (p.Ile469Val) c.1420A>G (p.Ile474Val) c.*1296A>G (n.*1296A>G) c.1372A>G (p.Ile458Val) n.1634A>G c.1537A>G (p.Ile513Val) c.1366A>G (p.Ile456Val) c.1363A>G (p.Ile455Val) c.1513A>G (p.Ile505Val) c.1312A>G (p.Ile438Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382629A>T | CA376909805 | HK1 | c.1408A>T (p.Ile470Leu) c.1324A>T (p.Ile442Leu) c.1265+2534A>T (n.1265+2534A>T) c.1018A>T (p.Ile340Leu) c.*1025A>T (n.*1025A>T) c.*671A>T (n.*671A>T) c.1288A>T (p.Ile430Leu) n.1958A>T c.1405A>T (p.Ile469Leu) c.1420A>T (p.Ile474Leu) c.*1296A>T (n.*1296A>T) c.1372A>T (p.Ile458Leu) n.1634A>T c.1537A>T (p.Ile513Leu) c.1366A>T (p.Ile456Leu) c.1363A>T (p.Ile455Leu) c.1513A>T (p.Ile505Leu) c.1312A>T (p.Ile438Leu) | |
10 | g.69382630T>A | CA376909811 | HK1 | c.1409T>A (p.Ile470Lys) c.1325T>A (p.Ile442Lys) c.1265+2535T>A (n.1265+2535T>A) c.1019T>A (p.Ile340Lys) c.*1026T>A (n.*1026T>A) c.*672T>A (n.*672T>A) c.1289T>A (p.Ile430Lys) n.1959T>A c.1406T>A (p.Ile469Lys) c.1421T>A (p.Ile474Lys) c.*1297T>A (n.*1297T>A) c.1373T>A (p.Ile458Lys) n.1635T>A c.1538T>A (p.Ile513Lys) c.1367T>A (p.Ile456Lys) c.1364T>A (p.Ile455Lys) c.1514T>A (p.Ile505Lys) c.1313T>A (p.Ile438Lys) | |
10 | g.69382630T>C | CA376909807 | HK1 | c.1409T>C (p.Ile470Thr) c.1325T>C (p.Ile442Thr) c.1265+2535T>C (n.1265+2535T>C) c.1019T>C (p.Ile340Thr) c.*1026T>C (n.*1026T>C) c.*672T>C (n.*672T>C) c.1289T>C (p.Ile430Thr) n.1959T>C c.1406T>C (p.Ile469Thr) c.1421T>C (p.Ile474Thr) c.*1297T>C (n.*1297T>C) c.1373T>C (p.Ile458Thr) n.1635T>C c.1538T>C (p.Ile513Thr) c.1367T>C (p.Ile456Thr) c.1364T>C (p.Ile455Thr) c.1514T>C (p.Ile505Thr) c.1313T>C (p.Ile438Thr) | |
10 | g.69382630T>G | CA376909809 | HK1 | c.1409T>G (p.Ile470Arg) c.1325T>G (p.Ile442Arg) c.1265+2535T>G (n.1265+2535T>G) c.1019T>G (p.Ile340Arg) c.*1026T>G (n.*1026T>G) c.*672T>G (n.*672T>G) c.1289T>G (p.Ile430Arg) n.1959T>G c.1406T>G (p.Ile469Arg) c.1421T>G (p.Ile474Arg) c.*1297T>G (n.*1297T>G) c.1373T>G (p.Ile458Arg) n.1635T>G c.1538T>G (p.Ile513Arg) c.1367T>G (p.Ile456Arg) c.1364T>G (p.Ile455Arg) c.1514T>G (p.Ile505Arg) c.1313T>G (p.Ile438Arg) | |
10 | g.69382631A= | CA1917772139 | HK1 | c.1410A= (p.Ile470=) c.1326A= (p.Ile442=) c.1265+2536A= (n.1265+2536A=) c.1020A= (p.Ile340=) c.*1027A= (n.*1027A=) c.*673A= (n.*673A=) c.1290A= (p.Ile430=) n.1960A= c.1407A= (p.Ile469=) c.1422A= (p.Ile474=) c.*1298A= (n.*1298A=) c.1374A= (p.Ile458=) n.1636A= c.1539A= (p.Ile513=) c.1368A= (p.Ile456=) c.1365A= (p.Ile455=) c.1515A= (p.Ile505=) c.1314A= (p.Ile438=) | |
10 | g.69382631A>C | CA5532595 | HK1 | c.1410A>C (p.Ile470=) c.1326A>C (p.Ile442=) c.1265+2536A>C (n.1265+2536A>C) c.1020A>C (p.Ile340=) c.*1027A>C (n.*1027A>C) c.*673A>C (n.*673A>C) c.1290A>C (p.Ile430=) n.1960A>C c.1407A>C (p.Ile469=) c.1422A>C (p.Ile474=) c.*1298A>C (n.*1298A>C) c.1374A>C (p.Ile458=) n.1636A>C c.1539A>C (p.Ile513=) c.1368A>C (p.Ile456=) c.1365A>C (p.Ile455=) c.1515A>C (p.Ile505=) c.1314A>C (p.Ile438=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382631A>G | CA209213189 | HK1 | c.1410A>G (p.Ile470Met) c.1326A>G (p.Ile442Met) c.1265+2536A>G (n.1265+2536A>G) c.1020A>G (p.Ile340Met) c.*1027A>G (n.*1027A>G) c.*673A>G (n.*673A>G) c.1290A>G (p.Ile430Met) n.1960A>G c.1407A>G (p.Ile469Met) c.1422A>G (p.Ile474Met) c.*1298A>G (n.*1298A>G) c.1374A>G (p.Ile458Met) n.1636A>G c.1539A>G (p.Ile513Met) c.1368A>G (p.Ile456Met) c.1365A>G (p.Ile455Met) c.1515A>G (p.Ile505Met) c.1314A>G (p.Ile438Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382631A>T | CA470276579 | HK1 | c.1410A>T (p.Ile470=) c.1326A>T (p.Ile442=) c.1265+2536A>T (n.1265+2536A>T) c.1020A>T (p.Ile340=) c.*1027A>T (n.*1027A>T) c.*673A>T (n.*673A>T) c.1290A>T (p.Ile430=) n.1960A>T c.1407A>T (p.Ile469=) c.1422A>T (p.Ile474=) c.*1298A>T (n.*1298A>T) c.1374A>T (p.Ile458=) n.1636A>T c.1539A>T (p.Ile513=) c.1368A>T (p.Ile456=) c.1365A>T (p.Ile455=) c.1515A>T (p.Ile505=) c.1314A>T (p.Ile438=) | |
10 | g.69382632G>A | CA376909816 | HK1 | c.1411G>A (p.Glu471Lys) c.1327G>A (p.Glu443Lys) c.1265+2537G>A (n.1265+2537G>A) c.1021G>A (p.Glu341Lys) c.*1028G>A (n.*1028G>A) c.*674G>A (n.*674G>A) c.1291G>A (p.Glu431Lys) n.1961G>A c.1408G>A (p.Glu470Lys) c.1423G>A (p.Glu475Lys) c.*1299G>A (n.*1299G>A) c.1375G>A (p.Glu459Lys) n.1637G>A c.1540G>A (p.Glu514Lys) c.1369G>A (p.Glu457Lys) c.1366G>A (p.Glu456Lys) c.1516G>A (p.Glu506Lys) c.1315G>A (p.Glu439Lys) | |
10 | g.69382632G>C | CA376909818 | HK1 | c.1411G>C (p.Glu471Gln) c.1327G>C (p.Glu443Gln) c.1265+2537G>C (n.1265+2537G>C) c.1021G>C (p.Glu341Gln) c.*1028G>C (n.*1028G>C) c.*674G>C (n.*674G>C) c.1291G>C (p.Glu431Gln) n.1961G>C c.1408G>C (p.Glu470Gln) c.1423G>C (p.Glu475Gln) c.*1299G>C (n.*1299G>C) c.1375G>C (p.Glu459Gln) n.1637G>C c.1540G>C (p.Glu514Gln) c.1369G>C (p.Glu457Gln) c.1366G>C (p.Glu456Gln) c.1516G>C (p.Glu506Gln) c.1315G>C (p.Glu439Gln) | |
10 | g.69382632G>T | CA376909821 | HK1 | c.1411G>T (p.Glu471Ter) c.1327G>T (p.Glu443Ter) c.1265+2537G>T (n.1265+2537G>T) c.1021G>T (p.Glu341Ter) c.*1028G>T (n.*1028G>T) c.*674G>T (n.*674G>T) c.1291G>T (p.Glu431Ter) n.1961G>T c.1408G>T (p.Glu470Ter) c.1423G>T (p.Glu475Ter) c.*1299G>T (n.*1299G>T) c.1375G>T (p.Glu459Ter) n.1637G>T c.1540G>T (p.Glu514Ter) c.1369G>T (p.Glu457Ter) c.1366G>T (p.Glu456Ter) c.1516G>T (p.Glu506Ter) c.1315G>T (p.Glu439Ter) | |
10 | g.69382633A>C | CA376909824 | HK1 | c.1412A>C (p.Glu471Ala) c.1328A>C (p.Glu443Ala) c.1265+2538A>C (n.1265+2538A>C) c.1022A>C (p.Glu341Ala) c.*1029A>C (n.*1029A>C) c.*675A>C (n.*675A>C) c.1292A>C (p.Glu431Ala) n.1962A>C c.1409A>C (p.Glu470Ala) c.1424A>C (p.Glu475Ala) c.*1300A>C (n.*1300A>C) c.1376A>C (p.Glu459Ala) n.1638A>C c.1541A>C (p.Glu514Ala) c.1370A>C (p.Glu457Ala) c.1367A>C (p.Glu456Ala) c.1517A>C (p.Glu506Ala) c.1316A>C (p.Glu439Ala) | |
10 | g.69382633A>G | CA376909826 | HK1 | c.1412A>G (p.Glu471Gly) c.1328A>G (p.Glu443Gly) c.1265+2538A>G (n.1265+2538A>G) c.1022A>G (p.Glu341Gly) c.*1029A>G (n.*1029A>G) c.*675A>G (n.*675A>G) c.1292A>G (p.Glu431Gly) n.1962A>G c.1409A>G (p.Glu470Gly) c.1424A>G (p.Glu475Gly) c.*1300A>G (n.*1300A>G) c.1376A>G (p.Glu459Gly) n.1638A>G c.1541A>G (p.Glu514Gly) c.1370A>G (p.Glu457Gly) c.1367A>G (p.Glu456Gly) c.1517A>G (p.Glu506Gly) c.1316A>G (p.Glu439Gly) | |
10 | g.69382633A>T | CA376909827 | HK1 | c.1412A>T (p.Glu471Val) c.1328A>T (p.Glu443Val) c.1265+2538A>T (n.1265+2538A>T) c.1022A>T (p.Glu341Val) c.*1029A>T (n.*1029A>T) c.*675A>T (n.*675A>T) c.1292A>T (p.Glu431Val) n.1962A>T c.1409A>T (p.Glu470Val) c.1424A>T (p.Glu475Val) c.*1300A>T (n.*1300A>T) c.1376A>T (p.Glu459Val) n.1638A>T c.1541A>T (p.Glu514Val) c.1370A>T (p.Glu457Val) c.1367A>T (p.Glu456Val) c.1517A>T (p.Glu506Val) c.1316A>T (p.Glu439Val) | |
10 | g.69382634G>A | CA470276583 | HK1 | c.1413G>A (p.Glu471=) c.1329G>A (p.Glu443=) c.1265+2539G>A (n.1265+2539G>A) c.1023G>A (p.Glu341=) c.*1030G>A (n.*1030G>A) c.*676G>A (n.*676G>A) c.1293G>A (p.Glu431=) n.1963G>A c.1410G>A (p.Glu470=) c.1425G>A (p.Glu475=) c.*1301G>A (n.*1301G>A) c.1377G>A (p.Glu459=) n.1639G>A c.1542G>A (p.Glu514=) c.1371G>A (p.Glu457=) c.1368G>A (p.Glu456=) c.1518G>A (p.Glu506=) c.1317G>A (p.Glu439=) | ClinVar dbSNP gnomAD v4 |
10 | g.69382634G>C | CA376909828 | HK1 | c.1413G>C (p.Glu471Asp) c.1329G>C (p.Glu443Asp) c.1265+2539G>C (n.1265+2539G>C) c.1023G>C (p.Glu341Asp) c.*1030G>C (n.*1030G>C) c.*676G>C (n.*676G>C) c.1293G>C (p.Glu431Asp) n.1963G>C c.1410G>C (p.Glu470Asp) c.1425G>C (p.Glu475Asp) c.*1301G>C (n.*1301G>C) c.1377G>C (p.Glu459Asp) n.1639G>C c.1542G>C (p.Glu514Asp) c.1371G>C (p.Glu457Asp) c.1368G>C (p.Glu456Asp) c.1518G>C (p.Glu506Asp) c.1317G>C (p.Glu439Asp) | |
10 | g.69382634G>T | CA376909830 | HK1 | c.1413G>T (p.Glu471Asp) c.1329G>T (p.Glu443Asp) c.1265+2539G>T (n.1265+2539G>T) c.1023G>T (p.Glu341Asp) c.*1030G>T (n.*1030G>T) c.*676G>T (n.*676G>T) c.1293G>T (p.Glu431Asp) n.1963G>T c.1410G>T (p.Glu470Asp) c.1425G>T (p.Glu475Asp) c.*1301G>T (n.*1301G>T) c.1377G>T (p.Glu459Asp) n.1639G>T c.1542G>T (p.Glu514Asp) c.1371G>T (p.Glu457Asp) c.1368G>T (p.Glu456Asp) c.1518G>T (p.Glu506Asp) c.1317G>T (p.Glu439Asp) | |
10 | g.69382635G>A | CA376909833 | HK1 | c.1414G>A (p.Glu472Lys) c.1330G>A (p.Glu444Lys) c.1265+2540G>A (n.1265+2540G>A) c.1024G>A (p.Glu342Lys) c.*1031G>A (n.*1031G>A) c.*677G>A (n.*677G>A) c.1294G>A (p.Glu432Lys) n.1964G>A c.1411G>A (p.Glu471Lys) c.1426G>A (p.Glu476Lys) c.*1302G>A (n.*1302G>A) c.1378G>A (p.Glu460Lys) n.1640G>A c.1543G>A (p.Glu515Lys) c.1372G>A (p.Glu458Lys) c.1369G>A (p.Glu457Lys) c.1519G>A (p.Glu507Lys) c.1318G>A (p.Glu440Lys) | COSMIC COSMIC COSMIC COSMIC |
10 | g.69382635G>C | CA376909835 | HK1 | c.1414G>C (p.Glu472Gln) c.1330G>C (p.Glu444Gln) c.1265+2540G>C (n.1265+2540G>C) c.1024G>C (p.Glu342Gln) c.*1031G>C (n.*1031G>C) c.*677G>C (n.*677G>C) c.1294G>C (p.Glu432Gln) n.1964G>C c.1411G>C (p.Glu471Gln) c.1426G>C (p.Glu476Gln) c.*1302G>C (n.*1302G>C) c.1378G>C (p.Glu460Gln) n.1640G>C c.1543G>C (p.Glu515Gln) c.1372G>C (p.Glu458Gln) c.1369G>C (p.Glu457Gln) c.1519G>C (p.Glu507Gln) c.1318G>C (p.Glu440Gln) | |
10 | g.69382635G>T | CA376909836 | HK1 | c.1414G>T (p.Glu472Ter) c.1330G>T (p.Glu444Ter) c.1265+2540G>T (n.1265+2540G>T) c.1024G>T (p.Glu342Ter) c.*1031G>T (n.*1031G>T) c.*677G>T (n.*677G>T) c.1294G>T (p.Glu432Ter) n.1964G>T c.1411G>T (p.Glu471Ter) c.1426G>T (p.Glu476Ter) c.*1302G>T (n.*1302G>T) c.1378G>T (p.Glu460Ter) n.1640G>T c.1543G>T (p.Glu515Ter) c.1372G>T (p.Glu458Ter) c.1369G>T (p.Glu457Ter) c.1519G>T (p.Glu507Ter) c.1318G>T (p.Glu440Ter) | |
10 | g.69382636A>C | CA376909843 | HK1 | c.1415A>C (p.Glu472Ala) c.1331A>C (p.Glu444Ala) c.1265+2541A>C (n.1265+2541A>C) c.1025A>C (p.Glu342Ala) c.*1032A>C (n.*1032A>C) c.*678A>C (n.*678A>C) c.1295A>C (p.Glu432Ala) n.1965A>C c.1412A>C (p.Glu471Ala) c.1427A>C (p.Glu476Ala) c.*1303A>C (n.*1303A>C) c.1379A>C (p.Glu460Ala) n.1641A>C c.1544A>C (p.Glu515Ala) c.1373A>C (p.Glu458Ala) c.1370A>C (p.Glu457Ala) c.1520A>C (p.Glu507Ala) c.1319A>C (p.Glu440Ala) | |
10 | g.69382636A>G | CA376909838 | HK1 | c.1415A>G (p.Glu472Gly) c.1331A>G (p.Glu444Gly) c.1265+2541A>G (n.1265+2541A>G) c.1025A>G (p.Glu342Gly) c.*1032A>G (n.*1032A>G) c.*678A>G (n.*678A>G) c.1295A>G (p.Glu432Gly) n.1965A>G c.1412A>G (p.Glu471Gly) c.1427A>G (p.Glu476Gly) c.*1303A>G (n.*1303A>G) c.1379A>G (p.Glu460Gly) n.1641A>G c.1544A>G (p.Glu515Gly) c.1373A>G (p.Glu458Gly) c.1370A>G (p.Glu457Gly) c.1520A>G (p.Glu507Gly) c.1319A>G (p.Glu440Gly) | |
10 | g.69382636A>T | CA376909841 | HK1 | c.1415A>T (p.Glu472Val) c.1331A>T (p.Glu444Val) c.1265+2541A>T (n.1265+2541A>T) c.1025A>T (p.Glu342Val) c.*1032A>T (n.*1032A>T) c.*678A>T (n.*678A>T) c.1295A>T (p.Glu432Val) n.1965A>T c.1412A>T (p.Glu471Val) c.1427A>T (p.Glu476Val) c.*1303A>T (n.*1303A>T) c.1379A>T (p.Glu460Val) n.1641A>T c.1544A>T (p.Glu515Val) c.1373A>T (p.Glu458Val) c.1370A>T (p.Glu457Val) c.1520A>T (p.Glu507Val) c.1319A>T (p.Glu440Val) | gnomAD v4 |
10 | g.69382637G>A | CA470276586 | HK1 | c.1416G>A (p.Glu472=) c.1332G>A (p.Glu444=) c.1265+2542G>A (n.1265+2542G>A) c.1026G>A (p.Glu342=) c.*1033G>A (n.*1033G>A) c.*679G>A (n.*679G>A) c.1296G>A (p.Glu432=) n.1966G>A c.1413G>A (p.Glu471=) c.1428G>A (p.Glu476=) c.*1304G>A (n.*1304G>A) c.1380G>A (p.Glu460=) n.1642G>A c.1545G>A (p.Glu515=) c.1374G>A (p.Glu458=) c.1371G>A (p.Glu457=) c.1521G>A (p.Glu507=) c.1320G>A (p.Glu440=) | |
10 | g.69382637G>C | CA376909845 | HK1 | c.1416G>C (p.Glu472Asp) c.1332G>C (p.Glu444Asp) c.1265+2542G>C (n.1265+2542G>C) c.1026G>C (p.Glu342Asp) c.*1033G>C (n.*1033G>C) c.*679G>C (n.*679G>C) c.1296G>C (p.Glu432Asp) n.1966G>C c.1413G>C (p.Glu471Asp) c.1428G>C (p.Glu476Asp) c.*1304G>C (n.*1304G>C) c.1380G>C (p.Glu460Asp) n.1642G>C c.1545G>C (p.Glu515Asp) c.1374G>C (p.Glu458Asp) c.1371G>C (p.Glu457Asp) c.1521G>C (p.Glu507Asp) c.1320G>C (p.Glu440Asp) | |
10 | g.69382637G>T | CA376909847 | HK1 | c.1416G>T (p.Glu472Asp) c.1332G>T (p.Glu444Asp) c.1265+2542G>T (n.1265+2542G>T) c.1026G>T (p.Glu342Asp) c.*1033G>T (n.*1033G>T) c.*679G>T (n.*679G>T) c.1296G>T (p.Glu432Asp) n.1966G>T c.1413G>T (p.Glu471Asp) c.1428G>T (p.Glu476Asp) c.*1304G>T (n.*1304G>T) c.1380G>T (p.Glu460Asp) n.1642G>T c.1545G>T (p.Glu515Asp) c.1374G>T (p.Glu458Asp) c.1371G>T (p.Glu457Asp) c.1521G>T (p.Glu507Asp) c.1320G>T (p.Glu440Asp) | |
10 | g.69382638A>C | CA376909851 | HK1 | c.1417A>C (p.Thr473Pro) c.1333A>C (p.Thr445Pro) c.1265+2543A>C (n.1265+2543A>C) c.1027A>C (p.Thr343Pro) c.*1034A>C (n.*1034A>C) c.*680A>C (n.*680A>C) c.1297A>C (p.Thr433Pro) n.1967A>C c.1414A>C (p.Thr472Pro) c.1429A>C (p.Thr477Pro) c.*1305A>C (n.*1305A>C) c.1381A>C (p.Thr461Pro) n.1643A>C c.1546A>C (p.Thr516Pro) c.1375A>C (p.Thr459Pro) c.1372A>C (p.Thr458Pro) c.1522A>C (p.Thr508Pro) c.1321A>C (p.Thr441Pro) | |
10 | g.69382638A>G | CA376909853 | HK1 | c.1417A>G (p.Thr473Ala) c.1333A>G (p.Thr445Ala) c.1265+2543A>G (n.1265+2543A>G) c.1027A>G (p.Thr343Ala) c.*1034A>G (n.*1034A>G) c.*680A>G (n.*680A>G) c.1297A>G (p.Thr433Ala) n.1967A>G c.1414A>G (p.Thr472Ala) c.1429A>G (p.Thr477Ala) c.*1305A>G (n.*1305A>G) c.1381A>G (p.Thr461Ala) n.1643A>G c.1546A>G (p.Thr516Ala) c.1375A>G (p.Thr459Ala) c.1372A>G (p.Thr458Ala) c.1522A>G (p.Thr508Ala) c.1321A>G (p.Thr441Ala) | |
10 | g.69382638A>T | CA376909854 | HK1 | c.1417A>T (p.Thr473Ser) c.1333A>T (p.Thr445Ser) c.1265+2543A>T (n.1265+2543A>T) c.1027A>T (p.Thr343Ser) c.*1034A>T (n.*1034A>T) c.*680A>T (n.*680A>T) c.1297A>T (p.Thr433Ser) n.1967A>T c.1414A>T (p.Thr472Ser) c.1429A>T (p.Thr477Ser) c.*1305A>T (n.*1305A>T) c.1381A>T (p.Thr461Ser) n.1643A>T c.1546A>T (p.Thr516Ser) c.1375A>T (p.Thr459Ser) c.1372A>T (p.Thr458Ser) c.1522A>T (p.Thr508Ser) c.1321A>T (p.Thr441Ser) | |
10 | g.69382639C>A | CA376909857 | HK1 | c.1418C>A (p.Thr473Asn) c.1334C>A (p.Thr445Asn) c.1265+2544C>A (n.1265+2544C>A) c.1028C>A (p.Thr343Asn) c.*1035C>A (n.*1035C>A) c.*681C>A (n.*681C>A) c.1298C>A (p.Thr433Asn) n.1968C>A c.1415C>A (p.Thr472Asn) c.1430C>A (p.Thr477Asn) c.*1306C>A (n.*1306C>A) c.1382C>A (p.Thr461Asn) n.1644C>A c.1547C>A (p.Thr516Asn) c.1376C>A (p.Thr459Asn) c.1373C>A (p.Thr458Asn) c.1523C>A (p.Thr508Asn) c.1322C>A (p.Thr441Asn) | |
10 | g.69382639C= | CA1917772147 | HK1 | c.1418C= (p.Thr473=) c.1334C= (p.Thr445=) c.1265+2544C= (n.1265+2544C=) c.1028C= (p.Thr343=) c.*1035C= (n.*1035C=) c.*681C= (n.*681C=) c.1298C= (p.Thr433=) n.1968C= c.1415C= (p.Thr472=) c.1430C= (p.Thr477=) c.*1306C= (n.*1306C=) c.1382C= (p.Thr461=) n.1644C= c.1547C= (p.Thr516=) c.1376C= (p.Thr459=) c.1373C= (p.Thr458=) c.1523C= (p.Thr508=) c.1322C= (p.Thr441=) | |
10 | g.69382639C>G | CA376909859 | HK1 | c.1418C>G (p.Thr473Ser) c.1334C>G (p.Thr445Ser) c.1265+2544C>G (n.1265+2544C>G) c.1028C>G (p.Thr343Ser) c.*1035C>G (n.*1035C>G) c.*681C>G (n.*681C>G) c.1298C>G (p.Thr433Ser) n.1968C>G c.1415C>G (p.Thr472Ser) c.1430C>G (p.Thr477Ser) c.*1306C>G (n.*1306C>G) c.1382C>G (p.Thr461Ser) n.1644C>G c.1547C>G (p.Thr516Ser) c.1376C>G (p.Thr459Ser) c.1373C>G (p.Thr458Ser) c.1523C>G (p.Thr508Ser) c.1322C>G (p.Thr441Ser) | |
10 | g.69382639C>T | CA376909861 | HK1 | c.1418C>T (p.Thr473Ile) c.1334C>T (p.Thr445Ile) c.1265+2544C>T (n.1265+2544C>T) c.1028C>T (p.Thr343Ile) c.*1035C>T (n.*1035C>T) c.*681C>T (n.*681C>T) c.1298C>T (p.Thr433Ile) n.1968C>T c.1415C>T (p.Thr472Ile) c.1430C>T (p.Thr477Ile) c.*1306C>T (n.*1306C>T) c.1382C>T (p.Thr461Ile) n.1644C>T c.1547C>T (p.Thr516Ile) c.1376C>T (p.Thr459Ile) c.1373C>T (p.Thr458Ile) c.1523C>T (p.Thr508Ile) c.1322C>T (p.Thr441Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.69382640C>A | CA5532596 | HK1 | c.1419C>A (p.Thr473=) c.1335C>A (p.Thr445=) c.1265+2545C>A (n.1265+2545C>A) c.1029C>A (p.Thr343=) c.*1036C>A (n.*1036C>A) c.*682C>A (n.*682C>A) c.1299C>A (p.Thr433=) n.1969C>A c.1416C>A (p.Thr472=) c.1431C>A (p.Thr477=) c.*1307C>A (n.*1307C>A) c.1383C>A (p.Thr461=) n.1645C>A c.1548C>A (p.Thr516=) c.1377C>A (p.Thr459=) c.1374C>A (p.Thr458=) c.1524C>A (p.Thr508=) c.1323C>A (p.Thr441=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382640C= | CA1917772153 | HK1 | c.1419C= (p.Thr473=) c.1335C= (p.Thr445=) c.1265+2545C= (n.1265+2545C=) c.1029C= (p.Thr343=) c.*1036C= (n.*1036C=) c.*682C= (n.*682C=) c.1299C= (p.Thr433=) n.1969C= c.1416C= (p.Thr472=) c.1431C= (p.Thr477=) c.*1307C= (n.*1307C=) c.1383C= (p.Thr461=) n.1645C= c.1548C= (p.Thr516=) c.1377C= (p.Thr459=) c.1374C= (p.Thr458=) c.1524C= (p.Thr508=) c.1323C= (p.Thr441=) | |
10 | g.69382640C>G | CA470276589 | HK1 | c.1419C>G (p.Thr473=) c.1335C>G (p.Thr445=) c.1265+2545C>G (n.1265+2545C>G) c.1029C>G (p.Thr343=) c.*1036C>G (n.*1036C>G) c.*682C>G (n.*682C>G) c.1299C>G (p.Thr433=) n.1969C>G c.1416C>G (p.Thr472=) c.1431C>G (p.Thr477=) c.*1307C>G (n.*1307C>G) c.1383C>G (p.Thr461=) n.1645C>G c.1548C>G (p.Thr516=) c.1377C>G (p.Thr459=) c.1374C>G (p.Thr458=) c.1524C>G (p.Thr508=) c.1323C>G (p.Thr441=) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
10 | g.69382640C>T | CA470276588 | HK1 | c.1419C>T (p.Thr473=) c.1335C>T (p.Thr445=) c.1265+2545C>T (n.1265+2545C>T) c.1029C>T (p.Thr343=) c.*1036C>T (n.*1036C>T) c.*682C>T (n.*682C>T) c.1299C>T (p.Thr433=) n.1969C>T c.1416C>T (p.Thr472=) c.1431C>T (p.Thr477=) c.*1307C>T (n.*1307C>T) c.1383C>T (p.Thr461=) n.1645C>T c.1548C>T (p.Thr516=) c.1377C>T (p.Thr459=) c.1374C>T (p.Thr458=) c.1524C>T (p.Thr508=) c.1323C>T (p.Thr441=) | |
10 | g.69382641C>A | CA376909864 | HK1 | c.1420C>A (p.Leu474Met) c.1336C>A (p.Leu446Met) c.1265+2546C>A (n.1265+2546C>A) c.1030C>A (p.Leu344Met) c.*1037C>A (n.*1037C>A) c.*683C>A (n.*683C>A) c.1300C>A (p.Leu434Met) n.1970C>A c.1417C>A (p.Leu473Met) c.1432C>A (p.Leu478Met) c.*1308C>A (n.*1308C>A) c.1384C>A (p.Leu462Met) n.1646C>A c.1549C>A (p.Leu517Met) c.1378C>A (p.Leu460Met) c.1375C>A (p.Leu459Met) c.1525C>A (p.Leu509Met) c.1324C>A (p.Leu442Met) | |
10 | g.69382641C= | CA1917772156 | HK1 | c.1420C= (p.Leu474=) c.1336C= (p.Leu446=) c.1265+2546C= (n.1265+2546C=) c.1030C= (p.Leu344=) c.*1037C= (n.*1037C=) c.*683C= (n.*683C=) c.1300C= (p.Leu434=) n.1970C= c.1417C= (p.Leu473=) c.1432C= (p.Leu478=) c.*1308C= (n.*1308C=) c.1384C= (p.Leu462=) n.1646C= c.1549C= (p.Leu517=) c.1378C= (p.Leu460=) c.1375C= (p.Leu459=) c.1525C= (p.Leu509=) c.1324C= (p.Leu442=) | |
10 | g.69382641C>G | CA376909866 | HK1 | c.1420C>G (p.Leu474Val) c.1336C>G (p.Leu446Val) c.1265+2546C>G (n.1265+2546C>G) c.1030C>G (p.Leu344Val) c.*1037C>G (n.*1037C>G) c.*683C>G (n.*683C>G) c.1300C>G (p.Leu434Val) n.1970C>G c.1417C>G (p.Leu473Val) c.1432C>G (p.Leu478Val) c.*1308C>G (n.*1308C>G) c.1384C>G (p.Leu462Val) n.1646C>G c.1549C>G (p.Leu517Val) c.1378C>G (p.Leu460Val) c.1375C>G (p.Leu459Val) c.1525C>G (p.Leu509Val) c.1324C>G (p.Leu442Val) | |
10 | g.69382641C>T | CA5532597 | HK1 | c.1420C>T (p.Leu474=) c.1336C>T (p.Leu446=) c.1265+2546C>T (n.1265+2546C>T) c.1030C>T (p.Leu344=) c.*1037C>T (n.*1037C>T) c.*683C>T (n.*683C>T) c.1300C>T (p.Leu434=) n.1970C>T c.1417C>T (p.Leu473=) c.1432C>T (p.Leu478=) c.*1308C>T (n.*1308C>T) c.1384C>T (p.Leu462=) n.1646C>T c.1549C>T (p.Leu517=) c.1378C>T (p.Leu460=) c.1375C>T (p.Leu459=) c.1525C>T (p.Leu509=) c.1324C>T (p.Leu442=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382642T>A | CA376909870 | HK1 | c.1421T>A (p.Leu474Gln) c.1337T>A (p.Leu446Gln) c.1265+2547T>A (n.1265+2547T>A) c.1031T>A (p.Leu344Gln) c.*1038T>A (n.*1038T>A) c.*684T>A (n.*684T>A) c.1301T>A (p.Leu434Gln) n.1971T>A c.1418T>A (p.Leu473Gln) c.1433T>A (p.Leu478Gln) c.*1309T>A (n.*1309T>A) c.1385T>A (p.Leu462Gln) n.1647T>A c.1550T>A (p.Leu517Gln) c.1379T>A (p.Leu460Gln) c.1376T>A (p.Leu459Gln) c.1526T>A (p.Leu509Gln) c.1325T>A (p.Leu442Gln) | |
10 | g.69382642T>C | CA376909874 | HK1 | c.1421T>C (p.Leu474Pro) c.1337T>C (p.Leu446Pro) c.1265+2547T>C (n.1265+2547T>C) c.1031T>C (p.Leu344Pro) c.*1038T>C (n.*1038T>C) c.*684T>C (n.*684T>C) c.1301T>C (p.Leu434Pro) n.1971T>C c.1418T>C (p.Leu473Pro) c.1433T>C (p.Leu478Pro) c.*1309T>C (n.*1309T>C) c.1385T>C (p.Leu462Pro) n.1647T>C c.1550T>C (p.Leu517Pro) c.1379T>C (p.Leu460Pro) c.1376T>C (p.Leu459Pro) c.1526T>C (p.Leu509Pro) c.1325T>C (p.Leu442Pro) | |
10 | g.69382642T>G | CA376909872 | HK1 | c.1421T>G (p.Leu474Arg) c.1337T>G (p.Leu446Arg) c.1265+2547T>G (n.1265+2547T>G) c.1031T>G (p.Leu344Arg) c.*1038T>G (n.*1038T>G) c.*684T>G (n.*684T>G) c.1301T>G (p.Leu434Arg) n.1971T>G c.1418T>G (p.Leu473Arg) c.1433T>G (p.Leu478Arg) c.*1309T>G (n.*1309T>G) c.1385T>G (p.Leu462Arg) n.1647T>G c.1550T>G (p.Leu517Arg) c.1379T>G (p.Leu460Arg) c.1376T>G (p.Leu459Arg) c.1526T>G (p.Leu509Arg) c.1325T>G (p.Leu442Arg) | |
10 | g.69382643G>A | CA470276593 | HK1 | c.1422G>A (p.Leu474=) c.1338G>A (p.Leu446=) c.1265+2548G>A (n.1265+2548G>A) c.1032G>A (p.Leu344=) c.*1039G>A (n.*1039G>A) c.*685G>A (n.*685G>A) c.1302G>A (p.Leu434=) n.1972G>A c.1419G>A (p.Leu473=) c.1434G>A (p.Leu478=) c.*1310G>A (n.*1310G>A) c.1386G>A (p.Leu462=) n.1648G>A c.1551G>A (p.Leu517=) c.1380G>A (p.Leu460=) c.1377G>A (p.Leu459=) c.1527G>A (p.Leu509=) c.1326G>A (p.Leu442=) | dbSNP gnomAD v4 |
10 | g.69382643G>C | CA470276595 | HK1 | c.1422G>C (p.Leu474=) c.1338G>C (p.Leu446=) c.1265+2548G>C (n.1265+2548G>C) c.1032G>C (p.Leu344=) c.*1039G>C (n.*1039G>C) c.*685G>C (n.*685G>C) c.1302G>C (p.Leu434=) n.1972G>C c.1419G>C (p.Leu473=) c.1434G>C (p.Leu478=) c.*1310G>C (n.*1310G>C) c.1386G>C (p.Leu462=) n.1648G>C c.1551G>C (p.Leu517=) c.1380G>C (p.Leu460=) c.1377G>C (p.Leu459=) c.1527G>C (p.Leu509=) c.1326G>C (p.Leu442=) | |
10 | g.69382643G>T | CA470276597 | HK1 | c.1422G>T (p.Leu474=) c.1338G>T (p.Leu446=) c.1265+2548G>T (n.1265+2548G>T) c.1032G>T (p.Leu344=) c.*1039G>T (n.*1039G>T) c.*685G>T (n.*685G>T) c.1302G>T (p.Leu434=) n.1972G>T c.1419G>T (p.Leu473=) c.1434G>T (p.Leu478=) c.*1310G>T (n.*1310G>T) c.1386G>T (p.Leu462=) n.1648G>T c.1551G>T (p.Leu517=) c.1380G>T (p.Leu460=) c.1377G>T (p.Leu459=) c.1527G>T (p.Leu509=) c.1326G>T (p.Leu442=) | |
10 | g.69382644G>A | CA5532598 | HK1 | c.1423G>A (p.Ala475Thr) c.1339G>A (p.Ala447Thr) c.1265+2549G>A (n.1265+2549G>A) c.1033G>A (p.Ala345Thr) c.*1040G>A (n.*1040G>A) c.*686G>A (n.*686G>A) c.1303G>A (p.Ala435Thr) n.1973G>A c.1420G>A (p.Ala474Thr) c.1435G>A (p.Ala479Thr) c.*1311G>A (n.*1311G>A) c.1387G>A (p.Ala463Thr) n.1649G>A c.1552G>A (p.Ala518Thr) c.1381G>A (p.Ala461Thr) c.1378G>A (p.Ala460Thr) c.1528G>A (p.Ala510Thr) c.1327G>A (p.Ala443Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.69382644G>C | CA376909882 | HK1 | c.1423G>C (p.Ala475Pro) c.1339G>C (p.Ala447Pro) c.1265+2549G>C (n.1265+2549G>C) c.1033G>C (p.Ala345Pro) c.*1040G>C (n.*1040G>C) c.*686G>C (n.*686G>C) c.1303G>C (p.Ala435Pro) n.1973G>C c.1420G>C (p.Ala474Pro) c.1435G>C (p.Ala479Pro) c.*1311G>C (n.*1311G>C) c.1387G>C (p.Ala463Pro) n.1649G>C c.1552G>C (p.Ala518Pro) c.1381G>C (p.Ala461Pro) c.1378G>C (p.Ala460Pro) c.1528G>C (p.Ala510Pro) c.1327G>C (p.Ala443Pro) | |
10 | g.69382644G= | CA1917772159 | HK1 | c.1423G= (p.Ala475=) c.1339G= (p.Ala447=) c.1265+2549G= (n.1265+2549G=) c.1033G= (p.Ala345=) c.*1040G= (n.*1040G=) c.*686G= (n.*686G=) c.1303G= (p.Ala435=) n.1973G= c.1420G= (p.Ala474=) c.1435G= (p.Ala479=) c.*1311G= (n.*1311G=) c.1387G= (p.Ala463=) n.1649G= c.1552G= (p.Ala518=) c.1381G= (p.Ala461=) c.1378G= (p.Ala460=) c.1528G= (p.Ala510=) c.1327G= (p.Ala443=) | |
10 | g.69382644G>T | CA376909880 | HK1 | c.1423G>T (p.Ala475Ser) c.1339G>T (p.Ala447Ser) c.1265+2549G>T (n.1265+2549G>T) c.1033G>T (p.Ala345Ser) c.*1040G>T (n.*1040G>T) c.*686G>T (n.*686G>T) c.1303G>T (p.Ala435Ser) n.1973G>T c.1420G>T (p.Ala474Ser) c.1435G>T (p.Ala479Ser) c.*1311G>T (n.*1311G>T) c.1387G>T (p.Ala463Ser) n.1649G>T c.1552G>T (p.Ala518Ser) c.1381G>T (p.Ala461Ser) c.1378G>T (p.Ala460Ser) c.1528G>T (p.Ala510Ser) c.1327G>T (p.Ala443Ser) | |
10 | g.69382645C>A | CA376909885 | HK1 | c.1424C>A (p.Ala475Asp) c.1340C>A (p.Ala447Asp) c.1265+2550C>A (n.1265+2550C>A) c.1034C>A (p.Ala345Asp) c.*1041C>A (n.*1041C>A) c.*687C>A (n.*687C>A) c.1304C>A (p.Ala435Asp) n.1974C>A c.1421C>A (p.Ala474Asp) c.1436C>A (p.Ala479Asp) c.*1312C>A (n.*1312C>A) c.1388C>A (p.Ala463Asp) n.1650C>A c.1553C>A (p.Ala518Asp) c.1382C>A (p.Ala461Asp) c.1379C>A (p.Ala460Asp) c.1529C>A (p.Ala510Asp) c.1328C>A (p.Ala443Asp) | gnomAD v4 |
10 | g.69382645C>G | CA376909887 | HK1 | c.1424C>G (p.Ala475Gly) c.1340C>G (p.Ala447Gly) c.1265+2550C>G (n.1265+2550C>G) c.1034C>G (p.Ala345Gly) c.*1041C>G (n.*1041C>G) c.*687C>G (n.*687C>G) c.1304C>G (p.Ala435Gly) n.1974C>G c.1421C>G (p.Ala474Gly) c.1436C>G (p.Ala479Gly) c.*1312C>G (n.*1312C>G) c.1388C>G (p.Ala463Gly) n.1650C>G c.1553C>G (p.Ala518Gly) c.1382C>G (p.Ala461Gly) c.1379C>G (p.Ala460Gly) c.1529C>G (p.Ala510Gly) c.1328C>G (p.Ala443Gly) | |
10 | g.69382645C>T | CA376909888 | HK1 | c.1424C>T (p.Ala475Val) c.1340C>T (p.Ala447Val) c.1265+2550C>T (n.1265+2550C>T) c.1034C>T (p.Ala345Val) c.*1041C>T (n.*1041C>T) c.*687C>T (n.*687C>T) c.1304C>T (p.Ala435Val) n.1974C>T c.1421C>T (p.Ala474Val) c.1436C>T (p.Ala479Val) c.*1312C>T (n.*1312C>T) c.1388C>T (p.Ala463Val) n.1650C>T c.1553C>T (p.Ala518Val) c.1382C>T (p.Ala461Val) c.1379C>T (p.Ala460Val) c.1529C>T (p.Ala510Val) c.1328C>T (p.Ala443Val) | |
10 | g.69382646T>A | CA470276599 | HK1 | c.1425T>A (p.Ala475=) c.1341T>A (p.Ala447=) c.1265+2551T>A (n.1265+2551T>A) c.1035T>A (p.Ala345=) c.*1042T>A (n.*1042T>A) c.*688T>A (n.*688T>A) c.1305T>A (p.Ala435=) n.1975T>A c.1422T>A (p.Ala474=) c.1437T>A (p.Ala479=) c.*1313T>A (n.*1313T>A) c.1389T>A (p.Ala463=) n.1651T>A c.1554T>A (p.Ala518=) c.1383T>A (p.Ala461=) c.1380T>A (p.Ala460=) c.1530T>A (p.Ala510=) c.1329T>A (p.Ala443=) | |
10 | g.69382646T>C | CA470276601 | HK1 | c.1425T>C (p.Ala475=) c.1341T>C (p.Ala447=) c.1265+2551T>C (n.1265+2551T>C) c.1035T>C (p.Ala345=) c.*1042T>C (n.*1042T>C) c.*688T>C (n.*688T>C) c.1305T>C (p.Ala435=) n.1975T>C c.1422T>C (p.Ala474=) c.1437T>C (p.Ala479=) c.*1313T>C (n.*1313T>C) c.1389T>C (p.Ala463=) n.1651T>C c.1554T>C (p.Ala518=) c.1383T>C (p.Ala461=) c.1380T>C (p.Ala460=) c.1530T>C (p.Ala510=) c.1329T>C (p.Ala443=) | |
10 | g.69382646T>G | CA470276602 | HK1 | c.1425T>G (p.Ala475=) c.1341T>G (p.Ala447=) c.1265+2551T>G (n.1265+2551T>G) c.1035T>G (p.Ala345=) c.*1042T>G (n.*1042T>G) c.*688T>G (n.*688T>G) c.1305T>G (p.Ala435=) n.1975T>G c.1422T>G (p.Ala474=) c.1437T>G (p.Ala479=) c.*1313T>G (n.*1313T>G) c.1389T>G (p.Ala463=) n.1651T>G c.1554T>G (p.Ala518=) c.1383T>G (p.Ala461=) c.1380T>G (p.Ala460=) c.1530T>G (p.Ala510=) c.1329T>G (p.Ala443=) | |
10 | g.69382647C>A | CA5532599 | HK1 | c.1426C>A (p.His476Asn) c.1342C>A (p.His448Asn) c.1265+2552C>A (n.1265+2552C>A) c.1036C>A (p.His346Asn) c.*1043C>A (n.*1043C>A) c.*689C>A (n.*689C>A) c.1306C>A (p.His436Asn) n.1976C>A c.1423C>A (p.His475Asn) c.1438C>A (p.His480Asn) c.*1314C>A (n.*1314C>A) c.1390C>A (p.His464Asn) n.1652C>A c.1555C>A (p.His519Asn) c.1384C>A (p.His462Asn) c.1381C>A (p.His461Asn) c.1531C>A (p.His511Asn) c.1330C>A (p.His444Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382647C= | CA1917772163 | HK1 | c.1426C= (p.His476=) c.1342C= (p.His448=) c.1265+2552C= (n.1265+2552C=) c.1036C= (p.His346=) c.*1043C= (n.*1043C=) c.*689C= (n.*689C=) c.1306C= (p.His436=) n.1976C= c.1423C= (p.His475=) c.1438C= (p.His480=) c.*1314C= (n.*1314C=) c.1390C= (p.His464=) n.1652C= c.1555C= (p.His519=) c.1384C= (p.His462=) c.1381C= (p.His461=) c.1531C= (p.His511=) c.1330C= (p.His444=) | |
10 | g.69382647C>G | CA376909898 | HK1 | c.1426C>G (p.His476Asp) c.1342C>G (p.His448Asp) c.1265+2552C>G (n.1265+2552C>G) c.1036C>G (p.His346Asp) c.*1043C>G (n.*1043C>G) c.*689C>G (n.*689C>G) c.1306C>G (p.His436Asp) n.1976C>G c.1423C>G (p.His475Asp) c.1438C>G (p.His480Asp) c.*1314C>G (n.*1314C>G) c.1390C>G (p.His464Asp) n.1652C>G c.1555C>G (p.His519Asp) c.1384C>G (p.His462Asp) c.1381C>G (p.His461Asp) c.1531C>G (p.His511Asp) c.1330C>G (p.His444Asp) | |
10 | g.69382647C>T | CA5532600 | HK1 | c.1426C>T (p.His476Tyr) c.1342C>T (p.His448Tyr) c.1265+2552C>T (n.1265+2552C>T) c.1036C>T (p.His346Tyr) c.*1043C>T (n.*1043C>T) c.*689C>T (n.*689C>T) c.1306C>T (p.His436Tyr) n.1976C>T c.1423C>T (p.His475Tyr) c.1438C>T (p.His480Tyr) c.*1314C>T (n.*1314C>T) c.1390C>T (p.His464Tyr) n.1652C>T c.1555C>T (p.His519Tyr) c.1384C>T (p.His462Tyr) c.1381C>T (p.His461Tyr) c.1531C>T (p.His511Tyr) c.1330C>T (p.His444Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.69382648A= | CA1917772166 | HK1 | c.1427A= (p.His476=) c.1343A= (p.His448=) c.1265+2553A= (n.1265+2553A=) c.1037A= (p.His346=) c.*1044A= (n.*1044A=) c.*690A= (n.*690A=) c.1307A= (p.His436=) n.1977A= c.1424A= (p.His475=) c.1439A= (p.His480=) c.*1315A= (n.*1315A=) c.1391A= (p.His464=) n.1653A= c.1556A= (p.His519=) c.1385A= (p.His462=) c.1382A= (p.His461=) c.1532A= (p.His511=) c.1331A= (p.His444=) | |
10 | g.69382648A>C | CA376909901 | HK1 | c.1427A>C (p.His476Pro) c.1343A>C (p.His448Pro) c.1265+2553A>C (n.1265+2553A>C) c.1037A>C (p.His346Pro) c.*1044A>C (n.*1044A>C) c.*690A>C (n.*690A>C) c.1307A>C (p.His436Pro) n.1977A>C c.1424A>C (p.His475Pro) c.1439A>C (p.His480Pro) c.*1315A>C (n.*1315A>C) c.1391A>C (p.His464Pro) n.1653A>C c.1556A>C (p.His519Pro) c.1385A>C (p.His462Pro) c.1382A>C (p.His461Pro) c.1532A>C (p.His511Pro) c.1331A>C (p.His444Pro) | ClinVar dbSNP gnomAD v2 |
10 | g.69382648A>G | CA376909903 | HK1 | c.1427A>G (p.His476Arg) c.1343A>G (p.His448Arg) c.1265+2553A>G (n.1265+2553A>G) c.1037A>G (p.His346Arg) c.*1044A>G (n.*1044A>G) c.*690A>G (n.*690A>G) c.1307A>G (p.His436Arg) n.1977A>G c.1424A>G (p.His475Arg) c.1439A>G (p.His480Arg) c.*1315A>G (n.*1315A>G) c.1391A>G (p.His464Arg) n.1653A>G c.1556A>G (p.His519Arg) c.1385A>G (p.His462Arg) c.1382A>G (p.His461Arg) c.1532A>G (p.His511Arg) c.1331A>G (p.His444Arg) | |
10 | g.69382648A>T | CA376909904 | HK1 | c.1427A>T (p.His476Leu) c.1343A>T (p.His448Leu) c.1265+2553A>T (n.1265+2553A>T) c.1037A>T (p.His346Leu) c.*1044A>T (n.*1044A>T) c.*690A>T (n.*690A>T) c.1307A>T (p.His436Leu) n.1977A>T c.1424A>T (p.His475Leu) c.1439A>T (p.His480Leu) c.*1315A>T (n.*1315A>T) c.1391A>T (p.His464Leu) n.1653A>T c.1556A>T (p.His519Leu) c.1385A>T (p.His462Leu) c.1382A>T (p.His461Leu) c.1532A>T (p.His511Leu) c.1331A>T (p.His444Leu) | |
10 | g.69382649T>A | CA376909905 | HK1 | c.1428T>A (p.His476Gln) c.1344T>A (p.His448Gln) c.1265+2554T>A (n.1265+2554T>A) c.1038T>A (p.His346Gln) c.*1045T>A (n.*1045T>A) c.*691T>A (n.*691T>A) c.1308T>A (p.His436Gln) n.1978T>A c.1425T>A (p.His475Gln) c.1440T>A (p.His480Gln) c.*1316T>A (n.*1316T>A) c.1392T>A (p.His464Gln) n.1654T>A c.1557T>A (p.His519Gln) c.1386T>A (p.His462Gln) c.1383T>A (p.His461Gln) c.1533T>A (p.His511Gln) c.1332T>A (p.His444Gln) | |
10 | g.69382649T>C | CA470276603 | HK1 | c.1428T>C (p.His476=) c.1344T>C (p.His448=) c.1265+2554T>C (n.1265+2554T>C) c.1038T>C (p.His346=) c.*1045T>C (n.*1045T>C) c.*691T>C (n.*691T>C) c.1308T>C (p.His436=) n.1978T>C c.1425T>C (p.His475=) c.1440T>C (p.His480=) c.*1316T>C (n.*1316T>C) c.1392T>C (p.His464=) n.1654T>C c.1557T>C (p.His519=) c.1386T>C (p.His462=) c.1383T>C (p.His461=) c.1533T>C (p.His511=) c.1332T>C (p.His444=) | |
10 | g.69382649T>G | CA376909906 | HK1 | c.1428T>G (p.His476Gln) c.1344T>G (p.His448Gln) c.1265+2554T>G (n.1265+2554T>G) c.1038T>G (p.His346Gln) c.*1045T>G (n.*1045T>G) c.*691T>G (n.*691T>G) c.1308T>G (p.His436Gln) n.1978T>G c.1425T>G (p.His475Gln) c.1440T>G (p.His480Gln) c.*1316T>G (n.*1316T>G) c.1392T>G (p.His464Gln) n.1654T>G c.1557T>G (p.His519Gln) c.1386T>G (p.His462Gln) c.1383T>G (p.His461Gln) c.1533T>G (p.His511Gln) c.1332T>G (p.His444Gln) | |
10 | g.69382650T>A | CA376909909 | HK1 | c.1429T>A (p.Phe477Ile) c.1345T>A (p.Phe449Ile) c.1265+2555T>A (n.1265+2555T>A) c.1039T>A (p.Phe347Ile) c.*1046T>A (n.*1046T>A) c.*692T>A (n.*692T>A) c.1309T>A (p.Phe437Ile) n.1979T>A c.1426T>A (p.Phe476Ile) c.1441T>A (p.Phe481Ile) c.*1317T>A (n.*1317T>A) c.1393T>A (p.Phe465Ile) n.1655T>A c.1558T>A (p.Phe520Ile) c.1387T>A (p.Phe463Ile) c.1384T>A (p.Phe462Ile) c.1534T>A (p.Phe512Ile) c.1333T>A (p.Phe445Ile) | |
10 | g.69382650T>C | CA376909907 | HK1 | c.1429T>C (p.Phe477Leu) c.1345T>C (p.Phe449Leu) c.1265+2555T>C (n.1265+2555T>C) c.1039T>C (p.Phe347Leu) c.*1046T>C (n.*1046T>C) c.*692T>C (n.*692T>C) c.1309T>C (p.Phe437Leu) n.1979T>C c.1426T>C (p.Phe476Leu) c.1441T>C (p.Phe481Leu) c.*1317T>C (n.*1317T>C) c.1393T>C (p.Phe465Leu) n.1655T>C c.1558T>C (p.Phe520Leu) c.1387T>C (p.Phe463Leu) c.1384T>C (p.Phe462Leu) c.1534T>C (p.Phe512Leu) c.1333T>C (p.Phe445Leu) | |
10 | g.69382650T>G | CA376909908 | HK1 | c.1429T>G (p.Phe477Val) c.1345T>G (p.Phe449Val) c.1265+2555T>G (n.1265+2555T>G) c.1039T>G (p.Phe347Val) c.*1046T>G (n.*1046T>G) c.*692T>G (n.*692T>G) c.1309T>G (p.Phe437Val) n.1979T>G c.1426T>G (p.Phe476Val) c.1441T>G (p.Phe481Val) c.*1317T>G (n.*1317T>G) c.1393T>G (p.Phe465Val) n.1655T>G c.1558T>G (p.Phe520Val) c.1387T>G (p.Phe463Val) c.1384T>G (p.Phe462Val) c.1534T>G (p.Phe512Val) c.1333T>G (p.Phe445Val) | |
10 | g.69382651T>A | CA376909910 | HK1 | c.1430T>A (p.Phe477Tyr) c.1346T>A (p.Phe449Tyr) c.1265+2556T>A (n.1265+2556T>A) c.1040T>A (p.Phe347Tyr) c.*1047T>A (n.*1047T>A) c.*693T>A (n.*693T>A) c.1310T>A (p.Phe437Tyr) n.1980T>A c.1427T>A (p.Phe476Tyr) c.1442T>A (p.Phe481Tyr) c.*1318T>A (n.*1318T>A) c.1394T>A (p.Phe465Tyr) n.1656T>A c.1559T>A (p.Phe520Tyr) c.1388T>A (p.Phe463Tyr) c.1385T>A (p.Phe462Tyr) c.1535T>A (p.Phe512Tyr) c.1334T>A (p.Phe445Tyr) | |
10 | g.69382651T>C | CA376909911 | HK1 | c.1430T>C (p.Phe477Ser) c.1346T>C (p.Phe449Ser) c.1265+2556T>C (n.1265+2556T>C) c.1040T>C (p.Phe347Ser) c.*1047T>C (n.*1047T>C) c.*693T>C (n.*693T>C) c.1310T>C (p.Phe437Ser) n.1980T>C c.1427T>C (p.Phe476Ser) c.1442T>C (p.Phe481Ser) c.*1318T>C (n.*1318T>C) c.1394T>C (p.Phe465Ser) n.1656T>C c.1559T>C (p.Phe520Ser) c.1388T>C (p.Phe463Ser) c.1385T>C (p.Phe462Ser) c.1535T>C (p.Phe512Ser) c.1334T>C (p.Phe445Ser) | |
10 | g.69382651T>G | CA376909912 | HK1 | c.1430T>G (p.Phe477Cys) c.1346T>G (p.Phe449Cys) c.1265+2556T>G (n.1265+2556T>G) c.1040T>G (p.Phe347Cys) c.*1047T>G (n.*1047T>G) c.*693T>G (n.*693T>G) c.1310T>G (p.Phe437Cys) n.1980T>G c.1427T>G (p.Phe476Cys) c.1442T>G (p.Phe481Cys) c.*1318T>G (n.*1318T>G) c.1394T>G (p.Phe465Cys) n.1656T>G c.1559T>G (p.Phe520Cys) c.1388T>G (p.Phe463Cys) c.1385T>G (p.Phe462Cys) c.1535T>G (p.Phe512Cys) c.1334T>G (p.Phe445Cys) | |
10 | g.69382652C>A | CA376909913 | HK1 | c.1431C>A (p.Phe477Leu) c.1347C>A (p.Phe449Leu) c.1265+2557C>A (n.1265+2557C>A) c.1041C>A (p.Phe347Leu) c.*1048C>A (n.*1048C>A) c.*694C>A (n.*694C>A) c.1311C>A (p.Phe437Leu) n.1981C>A c.1428C>A (p.Phe476Leu) c.1443C>A (p.Phe481Leu) c.*1319C>A (n.*1319C>A) c.1395C>A (p.Phe465Leu) n.1657C>A c.1560C>A (p.Phe520Leu) c.1389C>A (p.Phe463Leu) c.1386C>A (p.Phe462Leu) c.1536C>A (p.Phe512Leu) c.1335C>A (p.Phe445Leu) | |
10 | g.69382652C>G | CA376909914 | HK1 | c.1431C>G (p.Phe477Leu) c.1347C>G (p.Phe449Leu) c.1265+2557C>G (n.1265+2557C>G) c.1041C>G (p.Phe347Leu) c.*1048C>G (n.*1048C>G) c.*694C>G (n.*694C>G) c.1311C>G (p.Phe437Leu) n.1981C>G c.1428C>G (p.Phe476Leu) c.1443C>G (p.Phe481Leu) c.*1319C>G (n.*1319C>G) c.1395C>G (p.Phe465Leu) n.1657C>G c.1560C>G (p.Phe520Leu) c.1389C>G (p.Phe463Leu) c.1386C>G (p.Phe462Leu) c.1536C>G (p.Phe512Leu) c.1335C>G (p.Phe445Leu) | |
10 | g.69382652C>T | CA470276608 | HK1 | c.1431C>T (p.Phe477=) c.1347C>T (p.Phe449=) c.1265+2557C>T (n.1265+2557C>T) c.1041C>T (p.Phe347=) c.*1048C>T (n.*1048C>T) c.*694C>T (n.*694C>T) c.1311C>T (p.Phe437=) n.1981C>T c.1428C>T (p.Phe476=) c.1443C>T (p.Phe481=) c.*1319C>T (n.*1319C>T) c.1395C>T (p.Phe465=) n.1657C>T c.1560C>T (p.Phe520=) c.1389C>T (p.Phe463=) c.1386C>T (p.Phe462=) c.1536C>T (p.Phe512=) c.1335C>T (p.Phe445=) | gnomAD v4 |
10 | g.69382654_69382656del | CA2609447016 | HK1 | c.1433_1435del (p.His478del) c.1349_1351del (p.His450del) c.1265+2559_1265+2561del (n.1265+2559_1265+2561del) c.1043_1045del (p.His348del) c.*1050_*1052del (n.*1050_*1052del) c.*696_*698del (n.*696_*698del) c.1313_1315del (p.His438del) n.1983_1985del c.1430_1432del (p.His477del) c.1445_1447del (p.His482del) c.*1321_*1323del (n.*1321_*1323del) c.1397_1399del (p.His466del) n.1659_1661del c.1562_1564del (p.His521del) c.1391_1393del (p.His464del) c.1388_1390del (p.His463del) c.1538_1540del (p.His513del) c.1337_1339del (p.His446del) | gnomAD v4 |
10 | g.69382653C>A | CA376909915 | HK1 | c.1432C>A (p.His478Asn) c.1348C>A (p.His450Asn) c.1265+2558C>A (n.1265+2558C>A) c.1042C>A (p.His348Asn) c.*1049C>A (n.*1049C>A) c.*695C>A (n.*695C>A) c.1312C>A (p.His438Asn) n.1982C>A c.1429C>A (p.His477Asn) c.1444C>A (p.His482Asn) c.*1320C>A (n.*1320C>A) c.1396C>A (p.His466Asn) n.1658C>A c.1561C>A (p.His521Asn) c.1390C>A (p.His464Asn) c.1387C>A (p.His463Asn) c.1537C>A (p.His513Asn) c.1336C>A (p.His446Asn) | |
10 | g.69382653C>G | CA376909916 | HK1 | c.1432C>G (p.His478Asp) c.1348C>G (p.His450Asp) c.1265+2558C>G (n.1265+2558C>G) c.1042C>G (p.His348Asp) c.*1049C>G (n.*1049C>G) c.*695C>G (n.*695C>G) c.1312C>G (p.His438Asp) n.1982C>G c.1429C>G (p.His477Asp) c.1444C>G (p.His482Asp) c.*1320C>G (n.*1320C>G) c.1396C>G (p.His466Asp) n.1658C>G c.1561C>G (p.His521Asp) c.1390C>G (p.His464Asp) c.1387C>G (p.His463Asp) c.1537C>G (p.His513Asp) c.1336C>G (p.His446Asp) | |
10 | g.69382653C>T | CA376909917 | HK1 | c.1432C>T (p.His478Tyr) c.1348C>T (p.His450Tyr) c.1265+2558C>T (n.1265+2558C>T) c.1042C>T (p.His348Tyr) c.*1049C>T (n.*1049C>T) c.*695C>T (n.*695C>T) c.1312C>T (p.His438Tyr) n.1982C>T c.1429C>T (p.His477Tyr) c.1444C>T (p.His482Tyr) c.*1320C>T (n.*1320C>T) c.1396C>T (p.His466Tyr) n.1658C>T c.1561C>T (p.His521Tyr) c.1390C>T (p.His464Tyr) c.1387C>T (p.His463Tyr) c.1537C>T (p.His513Tyr) c.1336C>T (p.His446Tyr) | gnomAD v4 |
10 | g.69382654A= | CA1917772169 | HK1 | c.1433A= (p.His478=) c.1349A= (p.His450=) c.1265+2559A= (n.1265+2559A=) c.1043A= (p.His348=) c.*1050A= (n.*1050A=) c.*696A= (n.*696A=) c.1313A= (p.His438=) n.1983A= c.1430A= (p.His477=) c.1445A= (p.His482=) c.*1321A= (n.*1321A=) c.1397A= (p.His466=) n.1659A= c.1562A= (p.His521=) c.1391A= (p.His464=) c.1388A= (p.His463=) c.1538A= (p.His513=) c.1337A= (p.His446=) | |
10 | g.69382654A>C | CA376909918 | HK1 | c.1433A>C (p.His478Pro) c.1349A>C (p.His450Pro) c.1265+2559A>C (n.1265+2559A>C) c.1043A>C (p.His348Pro) c.*1050A>C (n.*1050A>C) c.*696A>C (n.*696A>C) c.1313A>C (p.His438Pro) n.1983A>C c.1430A>C (p.His477Pro) c.1445A>C (p.His482Pro) c.*1321A>C (n.*1321A>C) c.1397A>C (p.His466Pro) n.1659A>C c.1562A>C (p.His521Pro) c.1391A>C (p.His464Pro) c.1388A>C (p.His463Pro) c.1538A>C (p.His513Pro) c.1337A>C (p.His446Pro) | gnomAD v4 |
10 | g.69382654A>G | CA5532601 | HK1 | c.1433A>G (p.His478Arg) c.1349A>G (p.His450Arg) c.1265+2559A>G (n.1265+2559A>G) c.1043A>G (p.His348Arg) c.*1050A>G (n.*1050A>G) c.*696A>G (n.*696A>G) c.1313A>G (p.His438Arg) n.1983A>G c.1430A>G (p.His477Arg) c.1445A>G (p.His482Arg) c.*1321A>G (n.*1321A>G) c.1397A>G (p.His466Arg) n.1659A>G c.1562A>G (p.His521Arg) c.1391A>G (p.His464Arg) c.1388A>G (p.His463Arg) c.1538A>G (p.His513Arg) c.1337A>G (p.His446Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382654A>T | CA376909919 | HK1 | c.1433A>T (p.His478Leu) c.1349A>T (p.His450Leu) c.1265+2559A>T (n.1265+2559A>T) c.1043A>T (p.His348Leu) c.*1050A>T (n.*1050A>T) c.*696A>T (n.*696A>T) c.1313A>T (p.His438Leu) n.1983A>T c.1430A>T (p.His477Leu) c.1445A>T (p.His482Leu) c.*1321A>T (n.*1321A>T) c.1397A>T (p.His466Leu) n.1659A>T c.1562A>T (p.His521Leu) c.1391A>T (p.His464Leu) c.1388A>T (p.His463Leu) c.1538A>T (p.His513Leu) c.1337A>T (p.His446Leu) | gnomAD v4 |
10 | g.69382655C>A | CA376909921 | HK1 | c.1434C>A (p.His478Gln) c.1350C>A (p.His450Gln) c.1265+2560C>A (n.1265+2560C>A) c.1044C>A (p.His348Gln) c.*1051C>A (n.*1051C>A) c.*697C>A (n.*697C>A) c.1314C>A (p.His438Gln) n.1984C>A c.1431C>A (p.His477Gln) c.1446C>A (p.His482Gln) c.*1322C>A (n.*1322C>A) c.1398C>A (p.His466Gln) n.1660C>A c.1563C>A (p.His521Gln) c.1392C>A (p.His464Gln) c.1389C>A (p.His463Gln) c.1539C>A (p.His513Gln) c.1338C>A (p.His446Gln) | |
10 | g.69382655C= | CA1917772173 | HK1 | c.1434C= (p.His478=) c.1350C= (p.His450=) c.1265+2560C= (n.1265+2560C=) c.1044C= (p.His348=) c.*1051C= (n.*1051C=) c.*697C= (n.*697C=) c.1314C= (p.His438=) n.1984C= c.1431C= (p.His477=) c.1446C= (p.His482=) c.*1322C= (n.*1322C=) c.1398C= (p.His466=) n.1660C= c.1563C= (p.His521=) c.1392C= (p.His464=) c.1389C= (p.His463=) c.1539C= (p.His513=) c.1338C= (p.His446=) | |
10 | g.69382655C>G | CA376909920 | HK1 | c.1434C>G (p.His478Gln) c.1350C>G (p.His450Gln) c.1265+2560C>G (n.1265+2560C>G) c.1044C>G (p.His348Gln) c.*1051C>G (n.*1051C>G) c.*697C>G (n.*697C>G) c.1314C>G (p.His438Gln) n.1984C>G c.1431C>G (p.His477Gln) c.1446C>G (p.His482Gln) c.*1322C>G (n.*1322C>G) c.1398C>G (p.His466Gln) n.1660C>G c.1563C>G (p.His521Gln) c.1392C>G (p.His464Gln) c.1389C>G (p.His463Gln) c.1539C>G (p.His513Gln) c.1338C>G (p.His446Gln) | |
10 | g.69382655C>T | CA209213195 | HK1 | c.1434C>T (p.His478=) c.1350C>T (p.His450=) c.1265+2560C>T (n.1265+2560C>T) c.1044C>T (p.His348=) c.*1051C>T (n.*1051C>T) c.*697C>T (n.*697C>T) c.1314C>T (p.His438=) n.1984C>T c.1431C>T (p.His477=) c.1446C>T (p.His482=) c.*1322C>T (n.*1322C>T) c.1398C>T (p.His466=) n.1660C>T c.1563C>T (p.His521=) c.1392C>T (p.His464=) c.1389C>T (p.His463=) c.1539C>T (p.His513=) c.1338C>T (p.His446=) | dbSNP gnomAD v4 |
10 | g.69382656C>A | CA376909922 | HK1 | c.1435C>A (p.Leu479Ile) c.1351C>A (p.Leu451Ile) c.1265+2561C>A (n.1265+2561C>A) c.1045C>A (p.Leu349Ile) c.*1052C>A (n.*1052C>A) c.*698C>A (n.*698C>A) c.1315C>A (p.Leu439Ile) n.1985C>A c.1432C>A (p.Leu478Ile) c.1447C>A (p.Leu483Ile) c.*1323C>A (n.*1323C>A) c.1399C>A (p.Leu467Ile) n.1661C>A c.1564C>A (p.Leu522Ile) c.1393C>A (p.Leu465Ile) c.1390C>A (p.Leu464Ile) c.1540C>A (p.Leu514Ile) c.1339C>A (p.Leu447Ile) | |
10 | g.69382656C>G | CA376909923 | HK1 | c.1435C>G (p.Leu479Val) c.1351C>G (p.Leu451Val) c.1265+2561C>G (n.1265+2561C>G) c.1045C>G (p.Leu349Val) c.*1052C>G (n.*1052C>G) c.*698C>G (n.*698C>G) c.1315C>G (p.Leu439Val) n.1985C>G c.1432C>G (p.Leu478Val) c.1447C>G (p.Leu483Val) c.*1323C>G (n.*1323C>G) c.1399C>G (p.Leu467Val) n.1661C>G c.1564C>G (p.Leu522Val) c.1393C>G (p.Leu465Val) c.1390C>G (p.Leu464Val) c.1540C>G (p.Leu514Val) c.1339C>G (p.Leu447Val) | |
10 | g.69382656C>T | CA376909924 | HK1 | c.1435C>T (p.Leu479Phe) c.1351C>T (p.Leu451Phe) c.1265+2561C>T (n.1265+2561C>T) c.1045C>T (p.Leu349Phe) c.*1052C>T (n.*1052C>T) c.*698C>T (n.*698C>T) c.1315C>T (p.Leu439Phe) n.1985C>T c.1432C>T (p.Leu478Phe) c.1447C>T (p.Leu483Phe) c.*1323C>T (n.*1323C>T) c.1399C>T (p.Leu467Phe) n.1661C>T c.1564C>T (p.Leu522Phe) c.1393C>T (p.Leu465Phe) c.1390C>T (p.Leu464Phe) c.1540C>T (p.Leu514Phe) c.1339C>T (p.Leu447Phe) | |
10 | g.69382657T>A | CA376909925 | HK1 | c.1436T>A (p.Leu479His) c.1352T>A (p.Leu451His) c.1265+2562T>A (n.1265+2562T>A) c.1046T>A (p.Leu349His) c.*1053T>A (n.*1053T>A) c.*699T>A (n.*699T>A) c.1316T>A (p.Leu439His) n.1986T>A c.1433T>A (p.Leu478His) c.1448T>A (p.Leu483His) c.*1324T>A (n.*1324T>A) c.1400T>A (p.Leu467His) n.1662T>A c.1565T>A (p.Leu522His) c.1394T>A (p.Leu465His) c.1391T>A (p.Leu464His) c.1541T>A (p.Leu514His) c.1340T>A (p.Leu447His) | |
10 | g.69382657T>C | CA376909926 | HK1 | c.1436T>C (p.Leu479Pro) c.1352T>C (p.Leu451Pro) c.1265+2562T>C (n.1265+2562T>C) c.1046T>C (p.Leu349Pro) c.*1053T>C (n.*1053T>C) c.*699T>C (n.*699T>C) c.1316T>C (p.Leu439Pro) n.1986T>C c.1433T>C (p.Leu478Pro) c.1448T>C (p.Leu483Pro) c.*1324T>C (n.*1324T>C) c.1400T>C (p.Leu467Pro) n.1662T>C c.1565T>C (p.Leu522Pro) c.1394T>C (p.Leu465Pro) c.1391T>C (p.Leu464Pro) c.1541T>C (p.Leu514Pro) c.1340T>C (p.Leu447Pro) | |
10 | g.69382657T>G | CA376909927 | HK1 | c.1436T>G (p.Leu479Arg) c.1352T>G (p.Leu451Arg) c.1265+2562T>G (n.1265+2562T>G) c.1046T>G (p.Leu349Arg) c.*1053T>G (n.*1053T>G) c.*699T>G (n.*699T>G) c.1316T>G (p.Leu439Arg) n.1986T>G c.1433T>G (p.Leu478Arg) c.1448T>G (p.Leu483Arg) c.*1324T>G (n.*1324T>G) c.1400T>G (p.Leu467Arg) n.1662T>G c.1565T>G (p.Leu522Arg) c.1394T>G (p.Leu465Arg) c.1391T>G (p.Leu464Arg) c.1541T>G (p.Leu514Arg) c.1340T>G (p.Leu447Arg) | |
10 | g.69382658C>A | CA470276617 | HK1 | c.1437C>A (p.Leu479=) c.1353C>A (p.Leu451=) c.1265+2563C>A (n.1265+2563C>A) c.1047C>A (p.Leu349=) c.*1054C>A (n.*1054C>A) c.*700C>A (n.*700C>A) c.1317C>A (p.Leu439=) n.1987C>A c.1434C>A (p.Leu478=) c.1449C>A (p.Leu483=) c.*1325C>A (n.*1325C>A) c.1401C>A (p.Leu467=) n.1663C>A c.1566C>A (p.Leu522=) c.1395C>A (p.Leu465=) c.1392C>A (p.Leu464=) c.1542C>A (p.Leu514=) c.1341C>A (p.Leu447=) | |
10 | g.69382658C>G | CA470276616 | HK1 | c.1437C>G (p.Leu479=) c.1353C>G (p.Leu451=) c.1265+2563C>G (n.1265+2563C>G) c.1047C>G (p.Leu349=) c.*1054C>G (n.*1054C>G) c.*700C>G (n.*700C>G) c.1317C>G (p.Leu439=) n.1987C>G c.1434C>G (p.Leu478=) c.1449C>G (p.Leu483=) c.*1325C>G (n.*1325C>G) c.1401C>G (p.Leu467=) n.1663C>G c.1566C>G (p.Leu522=) c.1395C>G (p.Leu465=) c.1392C>G (p.Leu464=) c.1542C>G (p.Leu514=) c.1341C>G (p.Leu447=) | gnomAD v4 |
10 | g.69382658C>T | CA470276615 | HK1 | c.1437C>T (p.Leu479=) c.1353C>T (p.Leu451=) c.1265+2563C>T (n.1265+2563C>T) c.1047C>T (p.Leu349=) c.*1054C>T (n.*1054C>T) c.*700C>T (n.*700C>T) c.1317C>T (p.Leu439=) n.1987C>T c.1434C>T (p.Leu478=) c.1449C>T (p.Leu483=) c.*1325C>T (n.*1325C>T) c.1401C>T (p.Leu467=) n.1663C>T c.1566C>T (p.Leu522=) c.1395C>T (p.Leu465=) c.1392C>T (p.Leu464=) c.1542C>T (p.Leu514=) c.1341C>T (p.Leu447=) | gnomAD v4 |
10 | g.69382659A>C | CA376909928 | HK1 | c.1438A>C (p.Thr480Pro) c.1354A>C (p.Thr452Pro) c.1265+2564A>C (n.1265+2564A>C) c.1048A>C (p.Thr350Pro) c.*1055A>C (n.*1055A>C) c.*701A>C (n.*701A>C) c.1318A>C (p.Thr440Pro) n.1988A>C c.1435A>C (p.Thr479Pro) c.1450A>C (p.Thr484Pro) c.*1326A>C (n.*1326A>C) c.1402A>C (p.Thr468Pro) n.1664A>C c.1567A>C (p.Thr523Pro) c.1396A>C (p.Thr466Pro) c.1393A>C (p.Thr465Pro) c.1543A>C (p.Thr515Pro) c.1342A>C (p.Thr448Pro) | |
10 | g.69382659A>G | CA376909929 | HK1 | c.1438A>G (p.Thr480Ala) c.1354A>G (p.Thr452Ala) c.1265+2564A>G (n.1265+2564A>G) c.1048A>G (p.Thr350Ala) c.*1055A>G (n.*1055A>G) c.*701A>G (n.*701A>G) c.1318A>G (p.Thr440Ala) n.1988A>G c.1435A>G (p.Thr479Ala) c.1450A>G (p.Thr484Ala) c.*1326A>G (n.*1326A>G) c.1402A>G (p.Thr468Ala) n.1664A>G c.1567A>G (p.Thr523Ala) c.1396A>G (p.Thr466Ala) c.1393A>G (p.Thr465Ala) c.1543A>G (p.Thr515Ala) c.1342A>G (p.Thr448Ala) | |
10 | g.69382659A>T | CA376909930 | HK1 | c.1438A>T (p.Thr480Ser) c.1354A>T (p.Thr452Ser) c.1265+2564A>T (n.1265+2564A>T) c.1048A>T (p.Thr350Ser) c.*1055A>T (n.*1055A>T) c.*701A>T (n.*701A>T) c.1318A>T (p.Thr440Ser) n.1988A>T c.1435A>T (p.Thr479Ser) c.1450A>T (p.Thr484Ser) c.*1326A>T (n.*1326A>T) c.1402A>T (p.Thr468Ser) n.1664A>T c.1567A>T (p.Thr523Ser) c.1396A>T (p.Thr466Ser) c.1393A>T (p.Thr465Ser) c.1543A>T (p.Thr515Ser) c.1342A>T (p.Thr448Ser) | |
10 | g.69382660C>A | CA5532602 | HK1 | c.1439C>A (p.Thr480Asn) c.1355C>A (p.Thr452Asn) c.1265+2565C>A (n.1265+2565C>A) c.1049C>A (p.Thr350Asn) c.*1056C>A (n.*1056C>A) c.*702C>A (n.*702C>A) c.1319C>A (p.Thr440Asn) n.1989C>A c.1436C>A (p.Thr479Asn) c.1451C>A (p.Thr484Asn) c.*1327C>A (n.*1327C>A) c.1403C>A (p.Thr468Asn) n.1665C>A c.1568C>A (p.Thr523Asn) c.1397C>A (p.Thr466Asn) c.1394C>A (p.Thr465Asn) c.1544C>A (p.Thr515Asn) c.1343C>A (p.Thr448Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.69382660C= | CA1917772178 | HK1 | c.1439C= (p.Thr480=) c.1355C= (p.Thr452=) c.1265+2565C= (n.1265+2565C=) c.1049C= (p.Thr350=) c.*1056C= (n.*1056C=) c.*702C= (n.*702C=) c.1319C= (p.Thr440=) n.1989C= c.1436C= (p.Thr479=) c.1451C= (p.Thr484=) c.*1327C= (n.*1327C=) c.1403C= (p.Thr468=) n.1665C= c.1568C= (p.Thr523=) c.1397C= (p.Thr466=) c.1394C= (p.Thr465=) c.1544C= (p.Thr515=) c.1343C= (p.Thr448=) | |
10 | g.69382660C>G | CA376909931 | HK1 | c.1439C>G (p.Thr480Ser) c.1355C>G (p.Thr452Ser) c.1265+2565C>G (n.1265+2565C>G) c.1049C>G (p.Thr350Ser) c.*1056C>G (n.*1056C>G) c.*702C>G (n.*702C>G) c.1319C>G (p.Thr440Ser) n.1989C>G c.1436C>G (p.Thr479Ser) c.1451C>G (p.Thr484Ser) c.*1327C>G (n.*1327C>G) c.1403C>G (p.Thr468Ser) n.1665C>G c.1568C>G (p.Thr523Ser) c.1397C>G (p.Thr466Ser) c.1394C>G (p.Thr465Ser) c.1544C>G (p.Thr515Ser) c.1343C>G (p.Thr448Ser) | |
10 | g.69382660C>T | CA376909932 | HK1 | c.1439C>T (p.Thr480Ile) c.1355C>T (p.Thr452Ile) c.1265+2565C>T (n.1265+2565C>T) c.1049C>T (p.Thr350Ile) c.*1056C>T (n.*1056C>T) c.*702C>T (n.*702C>T) c.1319C>T (p.Thr440Ile) n.1989C>T c.1436C>T (p.Thr479Ile) c.1451C>T (p.Thr484Ile) c.*1327C>T (n.*1327C>T) c.1403C>T (p.Thr468Ile) n.1665C>T c.1568C>T (p.Thr523Ile) c.1397C>T (p.Thr466Ile) c.1394C>T (p.Thr465Ile) c.1544C>T (p.Thr515Ile) c.1343C>T (p.Thr448Ile) | ClinVar |
10 | g.69382661C>A | CA470276624 | HK1 | c.1440C>A (p.Thr480=) c.1356C>A (p.Thr452=) c.1265+2566C>A (n.1265+2566C>A) c.1050C>A (p.Thr350=) c.*1057C>A (n.*1057C>A) c.*703C>A (n.*703C>A) c.1320C>A (p.Thr440=) n.1990C>A c.1437C>A (p.Thr479=) c.1452C>A (p.Thr484=) c.*1328C>A (n.*1328C>A) c.1404C>A (p.Thr468=) n.1666C>A c.1569C>A (p.Thr523=) c.1398C>A (p.Thr466=) c.1395C>A (p.Thr465=) c.1545C>A (p.Thr515=) c.1344C>A (p.Thr448=) | |
10 | g.69382661C>G | CA470276626 | HK1 | c.1440C>G (p.Thr480=) c.1356C>G (p.Thr452=) c.1265+2566C>G (n.1265+2566C>G) c.1050C>G (p.Thr350=) c.*1057C>G (n.*1057C>G) c.*703C>G (n.*703C>G) c.1320C>G (p.Thr440=) n.1990C>G c.1437C>G (p.Thr479=) c.1452C>G (p.Thr484=) c.*1328C>G (n.*1328C>G) c.1404C>G (p.Thr468=) n.1666C>G c.1569C>G (p.Thr523=) c.1398C>G (p.Thr466=) c.1395C>G (p.Thr465=) c.1545C>G (p.Thr515=) c.1344C>G (p.Thr448=) | |
10 | g.69382661C>T | CA470276625 | HK1 | c.1440C>T (p.Thr480=) c.1356C>T (p.Thr452=) c.1265+2566C>T (n.1265+2566C>T) c.1050C>T (p.Thr350=) c.*1057C>T (n.*1057C>T) c.*703C>T (n.*703C>T) c.1320C>T (p.Thr440=) n.1990C>T c.1437C>T (p.Thr479=) c.1452C>T (p.Thr484=) c.*1328C>T (n.*1328C>T) c.1404C>T (p.Thr468=) n.1666C>T c.1569C>T (p.Thr523=) c.1398C>T (p.Thr466=) c.1395C>T (p.Thr465=) c.1545C>T (p.Thr515=) c.1344C>T (p.Thr448=) | |
10 | g.69382662A>C | CA376909935 | HK1 | c.1441A>C (p.Lys481Gln) c.1357A>C (p.Lys453Gln) c.1265+2567A>C (n.1265+2567A>C) c.1051A>C (p.Lys351Gln) c.*1058A>C (n.*1058A>C) c.*704A>C (n.*704A>C) c.1321A>C (p.Lys441Gln) n.1991A>C c.1438A>C (p.Lys480Gln) c.1453A>C (p.Lys485Gln) c.*1329A>C (n.*1329A>C) c.1405A>C (p.Lys469Gln) n.1667A>C c.1570A>C (p.Lys524Gln) c.1399A>C (p.Lys467Gln) c.1396A>C (p.Lys466Gln) c.1546A>C (p.Lys516Gln) c.1345A>C (p.Lys449Gln) | |
10 | g.69382662A>G | CA376909934 | HK1 | c.1441A>G (p.Lys481Glu) c.1357A>G (p.Lys453Glu) c.1265+2567A>G (n.1265+2567A>G) c.1051A>G (p.Lys351Glu) c.*1058A>G (n.*1058A>G) c.*704A>G (n.*704A>G) c.1321A>G (p.Lys441Glu) n.1991A>G c.1438A>G (p.Lys480Glu) c.1453A>G (p.Lys485Glu) c.*1329A>G (n.*1329A>G) c.1405A>G (p.Lys469Glu) n.1667A>G c.1570A>G (p.Lys524Glu) c.1399A>G (p.Lys467Glu) c.1396A>G (p.Lys466Glu) c.1546A>G (p.Lys516Glu) c.1345A>G (p.Lys449Glu) | |
10 | g.69382662A>T | CA376909933 | HK1 | c.1441A>T (p.Lys481Ter) c.1357A>T (p.Lys453Ter) c.1265+2567A>T (n.1265+2567A>T) c.1051A>T (p.Lys351Ter) c.*1058A>T (n.*1058A>T) c.*704A>T (n.*704A>T) c.1321A>T (p.Lys441Ter) n.1991A>T c.1438A>T (p.Lys480Ter) c.1453A>T (p.Lys485Ter) c.*1329A>T (n.*1329A>T) c.1405A>T (p.Lys469Ter) n.1667A>T c.1570A>T (p.Lys524Ter) c.1399A>T (p.Lys467Ter) c.1396A>T (p.Lys466Ter) c.1546A>T (p.Lys516Ter) c.1345A>T (p.Lys449Ter) | |
10 | g.69382663A>C | CA376909936 | HK1 | c.1442A>C (p.Lys481Thr) c.1358A>C (p.Lys453Thr) c.1265+2568A>C (n.1265+2568A>C) c.1052A>C (p.Lys351Thr) c.*1059A>C (n.*1059A>C) c.*705A>C (n.*705A>C) c.1322A>C (p.Lys441Thr) n.1992A>C c.1439A>C (p.Lys480Thr) c.1454A>C (p.Lys485Thr) c.*1330A>C (n.*1330A>C) c.1406A>C (p.Lys469Thr) n.1668A>C c.1571A>C (p.Lys524Thr) c.1400A>C (p.Lys467Thr) c.1397A>C (p.Lys466Thr) c.1547A>C (p.Lys516Thr) c.1346A>C (p.Lys449Thr) | |
10 | g.69382663A>G | CA376909937 | HK1 | c.1442A>G (p.Lys481Arg) c.1358A>G (p.Lys453Arg) c.1265+2568A>G (n.1265+2568A>G) c.1052A>G (p.Lys351Arg) c.*1059A>G (n.*1059A>G) c.*705A>G (n.*705A>G) c.1322A>G (p.Lys441Arg) n.1992A>G c.1439A>G (p.Lys480Arg) c.1454A>G (p.Lys485Arg) c.*1330A>G (n.*1330A>G) c.1406A>G (p.Lys469Arg) n.1668A>G c.1571A>G (p.Lys524Arg) c.1400A>G (p.Lys467Arg) c.1397A>G (p.Lys466Arg) c.1547A>G (p.Lys516Arg) c.1346A>G (p.Lys449Arg) | |
10 | g.69382663A>T | CA376909938 | HK1 | c.1442A>T (p.Lys481Met) c.1358A>T (p.Lys453Met) c.1265+2568A>T (n.1265+2568A>T) c.1052A>T (p.Lys351Met) c.*1059A>T (n.*1059A>T) c.*705A>T (n.*705A>T) c.1322A>T (p.Lys441Met) n.1992A>T c.1439A>T (p.Lys480Met) c.1454A>T (p.Lys485Met) c.*1330A>T (n.*1330A>T) c.1406A>T (p.Lys469Met) n.1668A>T c.1571A>T (p.Lys524Met) c.1400A>T (p.Lys467Met) c.1397A>T (p.Lys466Met) c.1547A>T (p.Lys516Met) c.1346A>T (p.Lys449Met) | |
10 | g.69382664G>A | CA5532603 | HK1 | c.1443G>A (p.Lys481=) c.1359G>A (p.Lys453=) c.1265+2569G>A (n.1265+2569G>A) c.1053G>A (p.Lys351=) c.*1060G>A (n.*1060G>A) c.*706G>A (n.*706G>A) c.1323G>A (p.Lys441=) n.1993G>A c.1440G>A (p.Lys480=) c.1455G>A (p.Lys485=) c.*1331G>A (n.*1331G>A) c.1407G>A (p.Lys469=) n.1669G>A c.1572G>A (p.Lys524=) c.1401G>A (p.Lys467=) c.1398G>A (p.Lys466=) c.1548G>A (p.Lys516=) c.1347G>A (p.Lys449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382664G>C | CA376909939 | HK1 | c.1443G>C (p.Lys481Asn) c.1359G>C (p.Lys453Asn) c.1265+2569G>C (n.1265+2569G>C) c.1053G>C (p.Lys351Asn) c.*1060G>C (n.*1060G>C) c.*706G>C (n.*706G>C) c.1323G>C (p.Lys441Asn) n.1993G>C c.1440G>C (p.Lys480Asn) c.1455G>C (p.Lys485Asn) c.*1331G>C (n.*1331G>C) c.1407G>C (p.Lys469Asn) n.1669G>C c.1572G>C (p.Lys524Asn) c.1401G>C (p.Lys467Asn) c.1398G>C (p.Lys466Asn) c.1548G>C (p.Lys516Asn) c.1347G>C (p.Lys449Asn) | dbSNP |
10 | g.69382664G= | CA1917772181 | HK1 | c.1443G= (p.Lys481=) c.1359G= (p.Lys453=) c.1265+2569G= (n.1265+2569G=) c.1053G= (p.Lys351=) c.*1060G= (n.*1060G=) c.*706G= (n.*706G=) c.1323G= (p.Lys441=) n.1993G= c.1440G= (p.Lys480=) c.1455G= (p.Lys485=) c.*1331G= (n.*1331G=) c.1407G= (p.Lys469=) n.1669G= c.1572G= (p.Lys524=) c.1401G= (p.Lys467=) c.1398G= (p.Lys466=) c.1548G= (p.Lys516=) c.1347G= (p.Lys449=) | |
10 | g.69382664G>T | CA376909940 | HK1 | c.1443G>T (p.Lys481Asn) c.1359G>T (p.Lys453Asn) c.1265+2569G>T (n.1265+2569G>T) c.1053G>T (p.Lys351Asn) c.*1060G>T (n.*1060G>T) c.*706G>T (n.*706G>T) c.1323G>T (p.Lys441Asn) n.1993G>T c.1440G>T (p.Lys480Asn) c.1455G>T (p.Lys485Asn) c.*1331G>T (n.*1331G>T) c.1407G>T (p.Lys469Asn) n.1669G>T c.1572G>T (p.Lys524Asn) c.1401G>T (p.Lys467Asn) c.1398G>T (p.Lys466Asn) c.1548G>T (p.Lys516Asn) c.1347G>T (p.Lys449Asn) | |
10 | g.69382664_69382665del | CA2788411580 | HK1 | c.1443_1444del (p.Asp482HisfsTer28) c.1359_1360del (p.Asp454HisfsTer28) c.1265+2569_1265+2570del (n.1265+2569_1265+2570del) c.1053_1054del (p.Asp352HisfsTer28) c.*1060_*1061del (n.*1060_*1061del) c.*706_*707del (n.*706_*707del) c.1323_1324del (p.Asp442HisfsTer28) n.1993_1994del c.1440_1441del (p.Asp481HisfsTer28) c.1455_1456del (p.Asp486HisfsTer28) c.*1331_*1332del (n.*1331_*1332del) c.1407_1408del (p.Asp470HisfsTer28) n.1669_1670del c.1572_1573del (p.Asp525HisfsTer28) c.1401_1402del (p.Asp468HisfsTer28) c.1398_1399del (p.Asp467HisfsTer28) c.1548_1549del (p.Asp517HisfsTer28) c.1347_1348del (p.Asp450HisfsTer28) | |
10 | g.69382665G>A | CA376909941 | HK1 | c.1444G>A (p.Asp482Asn) c.1360G>A (p.Asp454Asn) c.1265+2570G>A (n.1265+2570G>A) c.1054G>A (p.Asp352Asn) c.*1061G>A (n.*1061G>A) c.*707G>A (n.*707G>A) c.1324G>A (p.Asp442Asn) n.1994G>A c.1441G>A (p.Asp481Asn) c.1456G>A (p.Asp486Asn) c.*1332G>A (n.*1332G>A) c.1408G>A (p.Asp470Asn) n.1670G>A c.1573G>A (p.Asp525Asn) c.1402G>A (p.Asp468Asn) c.1399G>A (p.Asp467Asn) c.1549G>A (p.Asp517Asn) c.1348G>A (p.Asp450Asn) | COSMIC COSMIC COSMIC COSMIC |
10 | g.69382665G>C | CA376909942 | HK1 | c.1444G>C (p.Asp482His) c.1360G>C (p.Asp454His) c.1265+2570G>C (n.1265+2570G>C) c.1054G>C (p.Asp352His) c.*1061G>C (n.*1061G>C) c.*707G>C (n.*707G>C) c.1324G>C (p.Asp442His) n.1994G>C c.1441G>C (p.Asp481His) c.1456G>C (p.Asp486His) c.*1332G>C (n.*1332G>C) c.1408G>C (p.Asp470His) n.1670G>C c.1573G>C (p.Asp525His) c.1402G>C (p.Asp468His) c.1399G>C (p.Asp467His) c.1549G>C (p.Asp517His) c.1348G>C (p.Asp450His) | |
10 | g.69382665G>T | CA376909943 | HK1 | c.1444G>T (p.Asp482Tyr) c.1360G>T (p.Asp454Tyr) c.1265+2570G>T (n.1265+2570G>T) c.1054G>T (p.Asp352Tyr) c.*1061G>T (n.*1061G>T) c.*707G>T (n.*707G>T) c.1324G>T (p.Asp442Tyr) n.1994G>T c.1441G>T (p.Asp481Tyr) c.1456G>T (p.Asp486Tyr) c.*1332G>T (n.*1332G>T) c.1408G>T (p.Asp470Tyr) n.1670G>T c.1573G>T (p.Asp525Tyr) c.1402G>T (p.Asp468Tyr) c.1399G>T (p.Asp467Tyr) c.1549G>T (p.Asp517Tyr) c.1348G>T (p.Asp450Tyr) | |
10 | g.69382665_69382667delinsGAC | CA1917772190 | HK1 | c.1444_1446delinsGAC (p.Asp482=) c.1360_1362delinsGAC (p.Asp454=) c.1265+2570_1265+2572delinsGAC (n.1265+2570_1265+2572delinsGAC) c.1054_1056delinsGAC (p.Asp352=) c.*1061_*1063delinsGAC (n.*1061_*1063delinsGAC) c.*707_*709delinsGAC (n.*707_*709delinsGAC) c.1324_1326delinsGAC (p.Asp442=) n.1994_1996delinsGAC c.1441_1443delinsGAC (p.Asp481=) c.1456_1458delinsGAC (p.Asp486=) c.*1332_*1334delinsGAC (n.*1332_*1334delinsGAC) c.1408_1410delinsGAC (p.Asp470=) n.1670_1672delinsGAC c.1573_1575delinsGAC (p.Asp525=) c.1402_1404delinsGAC (p.Asp468=) c.1399_1401delinsGAC (p.Asp467=) c.1549_1551delinsGAC (p.Asp517=) c.1348_1350delinsGAC (p.Asp450=) | |
10 | g.69382666A>C | CA376909944 | HK1 | c.1445A>C (p.Asp482Ala) c.1361A>C (p.Asp454Ala) c.1265+2571A>C (n.1265+2571A>C) c.1055A>C (p.Asp352Ala) c.*1062A>C (n.*1062A>C) c.*708A>C (n.*708A>C) c.1325A>C (p.Asp442Ala) n.1995A>C c.1442A>C (p.Asp481Ala) c.1457A>C (p.Asp486Ala) c.*1333A>C (n.*1333A>C) c.1409A>C (p.Asp470Ala) n.1671A>C c.1574A>C (p.Asp525Ala) c.1403A>C (p.Asp468Ala) c.1400A>C (p.Asp467Ala) c.1550A>C (p.Asp517Ala) c.1349A>C (p.Asp450Ala) | |
10 | g.69382666A>G | CA376909945 | HK1 | c.1445A>G (p.Asp482Gly) c.1361A>G (p.Asp454Gly) c.1265+2571A>G (n.1265+2571A>G) c.1055A>G (p.Asp352Gly) c.*1062A>G (n.*1062A>G) c.*708A>G (n.*708A>G) c.1325A>G (p.Asp442Gly) n.1995A>G c.1442A>G (p.Asp481Gly) c.1457A>G (p.Asp486Gly) c.*1333A>G (n.*1333A>G) c.1409A>G (p.Asp470Gly) n.1671A>G c.1574A>G (p.Asp525Gly) c.1403A>G (p.Asp468Gly) c.1400A>G (p.Asp467Gly) c.1550A>G (p.Asp517Gly) c.1349A>G (p.Asp450Gly) | |
10 | g.69382666A>T | CA376909946 | HK1 | c.1445A>T (p.Asp482Val) c.1361A>T (p.Asp454Val) c.1265+2571A>T (n.1265+2571A>T) c.1055A>T (p.Asp352Val) c.*1062A>T (n.*1062A>T) c.*708A>T (n.*708A>T) c.1325A>T (p.Asp442Val) n.1995A>T c.1442A>T (p.Asp481Val) c.1457A>T (p.Asp486Val) c.*1333A>T (n.*1333A>T) c.1409A>T (p.Asp470Val) n.1671A>T c.1574A>T (p.Asp525Val) c.1403A>T (p.Asp468Val) c.1400A>T (p.Asp467Val) c.1550A>T (p.Asp517Val) c.1349A>T (p.Asp450Val) | |
10 | g.69382667_69382668del | CA5532604 | HK1 | c.1446_1447del (p.Met483AlafsTer27) c.1362_1363del (p.Met455AlafsTer27) c.1265+2572_1265+2573del (n.1265+2572_1265+2573del) c.1056_1057del (p.Met353AlafsTer27) c.*1063_*1064del (n.*1063_*1064del) c.*709_*710del (n.*709_*710del) c.1326_1327del (p.Met443AlafsTer27) n.1996_1997del c.1443_1444del (p.Met482AlafsTer27) c.1458_1459del (p.Met487AlafsTer27) c.*1334_*1335del (n.*1334_*1335del) c.1410_1411del (p.Met471AlafsTer27) n.1672_1673del c.1575_1576del (p.Met526AlafsTer27) c.1404_1405del (p.Met469AlafsTer27) c.1401_1402del (p.Met468AlafsTer27) c.1551_1552del (p.Met518AlafsTer27) c.1350_1351del (p.Met451AlafsTer27) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.69382667C>A | CA376909948 | HK1 | c.1446C>A (p.Asp482Glu) c.1362C>A (p.Asp454Glu) c.1265+2572C>A (n.1265+2572C>A) c.1056C>A (p.Asp352Glu) c.*1063C>A (n.*1063C>A) c.*709C>A (n.*709C>A) c.1326C>A (p.Asp442Glu) n.1996C>A c.1443C>A (p.Asp481Glu) c.1458C>A (p.Asp486Glu) c.*1334C>A (n.*1334C>A) c.1410C>A (p.Asp470Glu) n.1672C>A c.1575C>A (p.Asp525Glu) c.1404C>A (p.Asp468Glu) c.1401C>A (p.Asp467Glu) c.1551C>A (p.Asp517Glu) c.1350C>A (p.Asp450Glu) | |
10 | g.69382667C>G | CA376909947 | HK1 | c.1446C>G (p.Asp482Glu) c.1362C>G (p.Asp454Glu) c.1265+2572C>G (n.1265+2572C>G) c.1056C>G (p.Asp352Glu) c.*1063C>G (n.*1063C>G) c.*709C>G (n.*709C>G) c.1326C>G (p.Asp442Glu) n.1996C>G c.1443C>G (p.Asp481Glu) c.1458C>G (p.Asp486Glu) c.*1334C>G (n.*1334C>G) c.1410C>G (p.Asp470Glu) n.1672C>G c.1575C>G (p.Asp525Glu) c.1404C>G (p.Asp468Glu) c.1401C>G (p.Asp467Glu) c.1551C>G (p.Asp517Glu) c.1350C>G (p.Asp450Glu) | |
10 | g.69382667C>T | CA470276641 | HK1 | c.1446C>T (p.Asp482=) c.1362C>T (p.Asp454=) c.1265+2572C>T (n.1265+2572C>T) c.1056C>T (p.Asp352=) c.*1063C>T (n.*1063C>T) c.*709C>T (n.*709C>T) c.1326C>T (p.Asp442=) n.1996C>T c.1443C>T (p.Asp481=) c.1458C>T (p.Asp486=) c.*1334C>T (n.*1334C>T) c.1410C>T (p.Asp470=) n.1672C>T c.1575C>T (p.Asp525=) c.1404C>T (p.Asp468=) c.1401C>T (p.Asp467=) c.1551C>T (p.Asp517=) c.1350C>T (p.Asp450=) | |
10 | g.69382668A= | CA1917772199 | HK1 | c.1447A= (p.Met483=) c.1363A= (p.Met455=) c.1265+2573A= (n.1265+2573A=) c.1057A= (p.Met353=) c.*1064A= (n.*1064A=) c.*710A= (n.*710A=) c.1327A= (p.Met443=) n.1997A= c.1444A= (p.Met482=) c.1459A= (p.Met487=) c.*1335A= (n.*1335A=) c.1411A= (p.Met471=) n.1673A= c.1576A= (p.Met526=) c.1405A= (p.Met469=) c.1402A= (p.Met468=) c.1552A= (p.Met518=) c.1351A= (p.Met451=) | |
10 | g.69382668A>C | CA376909949 | HK1 | c.1447A>C (p.Met483Leu) c.1363A>C (p.Met455Leu) c.1265+2573A>C (n.1265+2573A>C) c.1057A>C (p.Met353Leu) c.*1064A>C (n.*1064A>C) c.*710A>C (n.*710A>C) c.1327A>C (p.Met443Leu) n.1997A>C c.1444A>C (p.Met482Leu) c.1459A>C (p.Met487Leu) c.*1335A>C (n.*1335A>C) c.1411A>C (p.Met471Leu) n.1673A>C c.1576A>C (p.Met526Leu) c.1405A>C (p.Met469Leu) c.1402A>C (p.Met468Leu) c.1552A>C (p.Met518Leu) c.1351A>C (p.Met451Leu) | |
10 | g.69382668A>G | CA376909951 | HK1 | c.1447A>G (p.Met483Val) c.1363A>G (p.Met455Val) c.1265+2573A>G (n.1265+2573A>G) c.1057A>G (p.Met353Val) c.*1064A>G (n.*1064A>G) c.*710A>G (n.*710A>G) c.1327A>G (p.Met443Val) n.1997A>G c.1444A>G (p.Met482Val) c.1459A>G (p.Met487Val) c.*1335A>G (n.*1335A>G) c.1411A>G (p.Met471Val) n.1673A>G c.1576A>G (p.Met526Val) c.1405A>G (p.Met469Val) c.1402A>G (p.Met468Val) c.1552A>G (p.Met518Val) c.1351A>G (p.Met451Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.69382668A>T | CA376909950 | HK1 | c.1447A>T (p.Met483Leu) c.1363A>T (p.Met455Leu) c.1265+2573A>T (n.1265+2573A>T) c.1057A>T (p.Met353Leu) c.*1064A>T (n.*1064A>T) c.*710A>T (n.*710A>T) c.1327A>T (p.Met443Leu) n.1997A>T c.1444A>T (p.Met482Leu) c.1459A>T (p.Met487Leu) c.*1335A>T (n.*1335A>T) c.1411A>T (p.Met471Leu) n.1673A>T c.1576A>T (p.Met526Leu) c.1405A>T (p.Met469Leu) c.1402A>T (p.Met468Leu) c.1552A>T (p.Met518Leu) c.1351A>T (p.Met451Leu) | |
10 | g.69382669T>A | CA376909952 | HK1 | c.1448T>A (p.Met483Lys) c.1364T>A (p.Met455Lys) c.1265+2574T>A (n.1265+2574T>A) c.1058T>A (p.Met353Lys) c.*1065T>A (n.*1065T>A) c.*711T>A (n.*711T>A) c.1328T>A (p.Met443Lys) n.1998T>A c.1445T>A (p.Met482Lys) c.1460T>A (p.Met487Lys) c.*1336T>A (n.*1336T>A) c.1412T>A (p.Met471Lys) n.1674T>A c.1577T>A (p.Met526Lys) c.1406T>A (p.Met469Lys) c.1403T>A (p.Met468Lys) c.1553T>A (p.Met518Lys) c.1352T>A (p.Met451Lys) | |
10 | g.69382669T>C | CA376909954 | HK1 | c.1448T>C (p.Met483Thr) c.1364T>C (p.Met455Thr) c.1265+2574T>C (n.1265+2574T>C) c.1058T>C (p.Met353Thr) c.*1065T>C (n.*1065T>C) c.*711T>C (n.*711T>C) c.1328T>C (p.Met443Thr) n.1998T>C c.1445T>C (p.Met482Thr) c.1460T>C (p.Met487Thr) c.*1336T>C (n.*1336T>C) c.1412T>C (p.Met471Thr) n.1674T>C c.1577T>C (p.Met526Thr) c.1406T>C (p.Met469Thr) c.1403T>C (p.Met468Thr) c.1553T>C (p.Met518Thr) c.1352T>C (p.Met451Thr) | ClinVar dbSNP gnomAD v4 |
10 | g.69382669T>G | CA376909953 | HK1 | c.1448T>G (p.Met483Arg) c.1364T>G (p.Met455Arg) c.1265+2574T>G (n.1265+2574T>G) c.1058T>G (p.Met353Arg) c.*1065T>G (n.*1065T>G) c.*711T>G (n.*711T>G) c.1328T>G (p.Met443Arg) n.1998T>G c.1445T>G (p.Met482Arg) c.1460T>G (p.Met487Arg) c.*1336T>G (n.*1336T>G) c.1412T>G (p.Met471Arg) n.1674T>G c.1577T>G (p.Met526Arg) c.1406T>G (p.Met469Arg) c.1403T>G (p.Met468Arg) c.1553T>G (p.Met518Arg) c.1352T>G (p.Met451Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.69382669T= | CA1917772203 | HK1 | c.1448T= (p.Met483=) c.1364T= (p.Met455=) c.1265+2574T= (n.1265+2574T=) c.1058T= (p.Met353=) c.*1065T= (n.*1065T=) c.*711T= (n.*711T=) c.1328T= (p.Met443=) n.1998T= c.1445T= (p.Met482=) c.1460T= (p.Met487=) c.*1336T= (n.*1336T=) c.1412T= (p.Met471=) n.1674T= c.1577T= (p.Met526=) c.1406T= (p.Met469=) c.1403T= (p.Met468=) c.1553T= (p.Met518=) c.1352T= (p.Met451=) | |
10 | g.69382670G>A | CA376909955 | HK1 | c.1449G>A (p.Met483Ile) c.1365G>A (p.Met455Ile) c.1265+2575G>A (n.1265+2575G>A) c.1059G>A (p.Met353Ile) c.*1066G>A (n.*1066G>A) c.*712G>A (n.*712G>A) c.1329G>A (p.Met443Ile) n.1999G>A c.1446G>A (p.Met482Ile) c.1461G>A (p.Met487Ile) c.*1337G>A (n.*1337G>A) c.1413G>A (p.Met471Ile) n.1675G>A c.1578G>A (p.Met526Ile) c.1407G>A (p.Met469Ile) c.1404G>A (p.Met468Ile) c.1554G>A (p.Met518Ile) c.1353G>A (p.Met451Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382670G>C | CA376909956 | HK1 | c.1449G>C (p.Met483Ile) c.1365G>C (p.Met455Ile) c.1265+2575G>C (n.1265+2575G>C) c.1059G>C (p.Met353Ile) c.*1066G>C (n.*1066G>C) c.*712G>C (n.*712G>C) c.1329G>C (p.Met443Ile) n.1999G>C c.1446G>C (p.Met482Ile) c.1461G>C (p.Met487Ile) c.*1337G>C (n.*1337G>C) c.1413G>C (p.Met471Ile) n.1675G>C c.1578G>C (p.Met526Ile) c.1407G>C (p.Met469Ile) c.1404G>C (p.Met468Ile) c.1554G>C (p.Met518Ile) c.1353G>C (p.Met451Ile) | |
10 | g.69382670G= | CA1917772206 | HK1 | c.1449G= (p.Met483=) c.1365G= (p.Met455=) c.1265+2575G= (n.1265+2575G=) c.1059G= (p.Met353=) c.*1066G= (n.*1066G=) c.*712G= (n.*712G=) c.1329G= (p.Met443=) n.1999G= c.1446G= (p.Met482=) c.1461G= (p.Met487=) c.*1337G= (n.*1337G=) c.1413G= (p.Met471=) n.1675G= c.1578G= (p.Met526=) c.1407G= (p.Met469=) c.1404G= (p.Met468=) c.1554G= (p.Met518=) c.1353G= (p.Met451=) | |
10 | g.69382670G>T | CA376909957 | HK1 | c.1449G>T (p.Met483Ile) c.1365G>T (p.Met455Ile) c.1265+2575G>T (n.1265+2575G>T) c.1059G>T (p.Met353Ile) c.*1066G>T (n.*1066G>T) c.*712G>T (n.*712G>T) c.1329G>T (p.Met443Ile) n.1999G>T c.1446G>T (p.Met482Ile) c.1461G>T (p.Met487Ile) c.*1337G>T (n.*1337G>T) c.1413G>T (p.Met471Ile) n.1675G>T c.1578G>T (p.Met526Ile) c.1407G>T (p.Met469Ile) c.1404G>T (p.Met468Ile) c.1554G>T (p.Met518Ile) c.1353G>T (p.Met451Ile) | COSMIC |
10 | g.69382671C>A | CA376909958 | HK1 | c.1450C>A (p.Leu484Met) c.1366C>A (p.Leu456Met) c.1265+2576C>A (n.1265+2576C>A) c.1060C>A (p.Leu354Met) c.*1067C>A (n.*1067C>A) c.*713C>A (n.*713C>A) c.1330C>A (p.Leu444Met) n.2000C>A c.1447C>A (p.Leu483Met) c.1462C>A (p.Leu488Met) c.*1338C>A (n.*1338C>A) c.1414C>A (p.Leu472Met) n.1676C>A c.1579C>A (p.Leu527Met) c.1408C>A (p.Leu470Met) c.1405C>A (p.Leu469Met) c.1555C>A (p.Leu519Met) c.1354C>A (p.Leu452Met) | gnomAD v4 |
10 | g.69382671C= | CA1917772208 | HK1 | c.1450C= (p.Leu484=) c.1366C= (p.Leu456=) c.1265+2576C= (n.1265+2576C=) c.1060C= (p.Leu354=) c.*1067C= (n.*1067C=) c.*713C= (n.*713C=) c.1330C= (p.Leu444=) n.2000C= c.1447C= (p.Leu483=) c.1462C= (p.Leu488=) c.*1338C= (n.*1338C=) c.1414C= (p.Leu472=) n.1676C= c.1579C= (p.Leu527=) c.1408C= (p.Leu470=) c.1405C= (p.Leu469=) c.1555C= (p.Leu519=) c.1354C= (p.Leu452=) | |
10 | g.69382671C>G | CA376909959 | HK1 | c.1450C>G (p.Leu484Val) c.1366C>G (p.Leu456Val) c.1265+2576C>G (n.1265+2576C>G) c.1060C>G (p.Leu354Val) c.*1067C>G (n.*1067C>G) c.*713C>G (n.*713C>G) c.1330C>G (p.Leu444Val) n.2000C>G c.1447C>G (p.Leu483Val) c.1462C>G (p.Leu488Val) c.*1338C>G (n.*1338C>G) c.1414C>G (p.Leu472Val) n.1676C>G c.1579C>G (p.Leu527Val) c.1408C>G (p.Leu470Val) c.1405C>G (p.Leu469Val) c.1555C>G (p.Leu519Val) c.1354C>G (p.Leu452Val) | |
10 | g.69382671C>T | CA470276652 | HK1 | c.1450C>T (p.Leu484=) c.1366C>T (p.Leu456=) c.1265+2576C>T (n.1265+2576C>T) c.1060C>T (p.Leu354=) c.*1067C>T (n.*1067C>T) c.*713C>T (n.*713C>T) c.1330C>T (p.Leu444=) n.2000C>T c.1447C>T (p.Leu483=) c.1462C>T (p.Leu488=) c.*1338C>T (n.*1338C>T) c.1414C>T (p.Leu472=) n.1676C>T c.1579C>T (p.Leu527=) c.1408C>T (p.Leu470=) c.1405C>T (p.Leu469=) c.1555C>T (p.Leu519=) c.1354C>T (p.Leu452=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382672T>A | CA376909960 | HK1 | c.1451T>A (p.Leu484Gln) c.1367T>A (p.Leu456Gln) c.1265+2577T>A (n.1265+2577T>A) c.1061T>A (p.Leu354Gln) c.*1068T>A (n.*1068T>A) c.*714T>A (n.*714T>A) c.1331T>A (p.Leu444Gln) n.2001T>A c.1448T>A (p.Leu483Gln) c.1463T>A (p.Leu488Gln) c.*1339T>A (n.*1339T>A) c.1415T>A (p.Leu472Gln) n.1677T>A c.1580T>A (p.Leu527Gln) c.1409T>A (p.Leu470Gln) c.1406T>A (p.Leu469Gln) c.1556T>A (p.Leu519Gln) c.1355T>A (p.Leu452Gln) | |
10 | g.69382672T>C | CA376909961 | HK1 | c.1451T>C (p.Leu484Pro) c.1367T>C (p.Leu456Pro) c.1265+2577T>C (n.1265+2577T>C) c.1061T>C (p.Leu354Pro) c.*1068T>C (n.*1068T>C) c.*714T>C (n.*714T>C) c.1331T>C (p.Leu444Pro) n.2001T>C c.1448T>C (p.Leu483Pro) c.1463T>C (p.Leu488Pro) c.*1339T>C (n.*1339T>C) c.1415T>C (p.Leu472Pro) n.1677T>C c.1580T>C (p.Leu527Pro) c.1409T>C (p.Leu470Pro) c.1406T>C (p.Leu469Pro) c.1556T>C (p.Leu519Pro) c.1355T>C (p.Leu452Pro) | |
10 | g.69382672T>G | CA376909962 | HK1 | c.1451T>G (p.Leu484Arg) c.1367T>G (p.Leu456Arg) c.1265+2577T>G (n.1265+2577T>G) c.1061T>G (p.Leu354Arg) c.*1068T>G (n.*1068T>G) c.*714T>G (n.*714T>G) c.1331T>G (p.Leu444Arg) n.2001T>G c.1448T>G (p.Leu483Arg) c.1463T>G (p.Leu488Arg) c.*1339T>G (n.*1339T>G) c.1415T>G (p.Leu472Arg) n.1677T>G c.1580T>G (p.Leu527Arg) c.1409T>G (p.Leu470Arg) c.1406T>G (p.Leu469Arg) c.1556T>G (p.Leu519Arg) c.1355T>G (p.Leu452Arg) | |
10 | g.69382673G>A | CA470276653 | HK1 | c.1452G>A (p.Leu484=) c.1368G>A (p.Leu456=) c.1265+2578G>A (n.1265+2578G>A) c.1062G>A (p.Leu354=) c.*1069G>A (n.*1069G>A) c.*715G>A (n.*715G>A) c.1332G>A (p.Leu444=) n.2002G>A c.1449G>A (p.Leu483=) c.1464G>A (p.Leu488=) c.*1340G>A (n.*1340G>A) c.1416G>A (p.Leu472=) n.1678G>A c.1581G>A (p.Leu527=) c.1410G>A (p.Leu470=) c.1407G>A (p.Leu469=) c.1557G>A (p.Leu519=) c.1356G>A (p.Leu452=) | gnomAD v4 |
10 | g.69382673G>C | CA470276654 | HK1 | c.1452G>C (p.Leu484=) c.1368G>C (p.Leu456=) c.1265+2578G>C (n.1265+2578G>C) c.1062G>C (p.Leu354=) c.*1069G>C (n.*1069G>C) c.*715G>C (n.*715G>C) c.1332G>C (p.Leu444=) n.2002G>C c.1449G>C (p.Leu483=) c.1464G>C (p.Leu488=) c.*1340G>C (n.*1340G>C) c.1416G>C (p.Leu472=) n.1678G>C c.1581G>C (p.Leu527=) c.1410G>C (p.Leu470=) c.1407G>C (p.Leu469=) c.1557G>C (p.Leu519=) c.1356G>C (p.Leu452=) | |
10 | g.69382673G>T | CA470276655 | HK1 | c.1452G>T (p.Leu484=) c.1368G>T (p.Leu456=) c.1265+2578G>T (n.1265+2578G>T) c.1062G>T (p.Leu354=) c.*1069G>T (n.*1069G>T) c.*715G>T (n.*715G>T) c.1332G>T (p.Leu444=) n.2002G>T c.1449G>T (p.Leu483=) c.1464G>T (p.Leu488=) c.*1340G>T (n.*1340G>T) c.1416G>T (p.Leu472=) n.1678G>T c.1581G>T (p.Leu527=) c.1410G>T (p.Leu470=) c.1407G>T (p.Leu469=) c.1557G>T (p.Leu519=) c.1356G>T (p.Leu452=) | |
10 | g.69382674C>A | CA376909963 | HK1 | c.1453C>A (p.Leu485Met) c.1369C>A (p.Leu457Met) c.1265+2579C>A (n.1265+2579C>A) c.1063C>A (p.Leu355Met) c.*1070C>A (n.*1070C>A) c.*716C>A (n.*716C>A) c.1333C>A (p.Leu445Met) n.2003C>A c.1450C>A (p.Leu484Met) c.1465C>A (p.Leu489Met) c.*1341C>A (n.*1341C>A) c.1417C>A (p.Leu473Met) n.1679C>A c.1582C>A (p.Leu528Met) c.1411C>A (p.Leu471Met) c.1408C>A (p.Leu470Met) c.1558C>A (p.Leu520Met) c.1357C>A (p.Leu453Met) | dbSNP |
10 | g.69382674C>G | CA376909964 | HK1 | c.1453C>G (p.Leu485Val) c.1369C>G (p.Leu457Val) c.1265+2579C>G (n.1265+2579C>G) c.1063C>G (p.Leu355Val) c.*1070C>G (n.*1070C>G) c.*716C>G (n.*716C>G) c.1333C>G (p.Leu445Val) n.2003C>G c.1450C>G (p.Leu484Val) c.1465C>G (p.Leu489Val) c.*1341C>G (n.*1341C>G) c.1417C>G (p.Leu473Val) n.1679C>G c.1582C>G (p.Leu528Val) c.1411C>G (p.Leu471Val) c.1408C>G (p.Leu470Val) c.1558C>G (p.Leu520Val) c.1357C>G (p.Leu453Val) | |
10 | g.69382674C>T | CA470276656 | HK1 | c.1453C>T (p.Leu485=) c.1369C>T (p.Leu457=) c.1265+2579C>T (n.1265+2579C>T) c.1063C>T (p.Leu355=) c.*1070C>T (n.*1070C>T) c.*716C>T (n.*716C>T) c.1333C>T (p.Leu445=) n.2003C>T c.1450C>T (p.Leu484=) c.1465C>T (p.Leu489=) c.*1341C>T (n.*1341C>T) c.1417C>T (p.Leu473=) n.1679C>T c.1582C>T (p.Leu528=) c.1411C>T (p.Leu471=) c.1408C>T (p.Leu470=) c.1558C>T (p.Leu520=) c.1357C>T (p.Leu453=) | |
10 | g.69382675T>A | CA376909967 | HK1 | c.1454T>A (p.Leu485Gln) c.1370T>A (p.Leu457Gln) c.1265+2580T>A (n.1265+2580T>A) c.1064T>A (p.Leu355Gln) c.*1071T>A (n.*1071T>A) c.*717T>A (n.*717T>A) c.1334T>A (p.Leu445Gln) n.2004T>A c.1451T>A (p.Leu484Gln) c.1466T>A (p.Leu489Gln) c.*1342T>A (n.*1342T>A) c.1418T>A (p.Leu473Gln) n.1680T>A c.1583T>A (p.Leu528Gln) c.1412T>A (p.Leu471Gln) c.1409T>A (p.Leu470Gln) c.1559T>A (p.Leu520Gln) c.1358T>A (p.Leu453Gln) | |
10 | g.69382675T>C | CA376909966 | HK1 | c.1454T>C (p.Leu485Pro) c.1370T>C (p.Leu457Pro) c.1265+2580T>C (n.1265+2580T>C) c.1064T>C (p.Leu355Pro) c.*1071T>C (n.*1071T>C) c.*717T>C (n.*717T>C) c.1334T>C (p.Leu445Pro) n.2004T>C c.1451T>C (p.Leu484Pro) c.1466T>C (p.Leu489Pro) c.*1342T>C (n.*1342T>C) c.1418T>C (p.Leu473Pro) n.1680T>C c.1583T>C (p.Leu528Pro) c.1412T>C (p.Leu471Pro) c.1409T>C (p.Leu470Pro) c.1559T>C (p.Leu520Pro) c.1358T>C (p.Leu453Pro) | |
10 | g.69382675T>G | CA376909965 | HK1 | c.1454T>G (p.Leu485Arg) c.1370T>G (p.Leu457Arg) c.1265+2580T>G (n.1265+2580T>G) c.1064T>G (p.Leu355Arg) c.*1071T>G (n.*1071T>G) c.*717T>G (n.*717T>G) c.1334T>G (p.Leu445Arg) n.2004T>G c.1451T>G (p.Leu484Arg) c.1466T>G (p.Leu489Arg) c.*1342T>G (n.*1342T>G) c.1418T>G (p.Leu473Arg) n.1680T>G c.1583T>G (p.Leu528Arg) c.1412T>G (p.Leu471Arg) c.1409T>G (p.Leu470Arg) c.1559T>G (p.Leu520Arg) c.1358T>G (p.Leu453Arg) | |
10 | g.69382675_69382676delinsTG | CA1917772212 | HK1 | c.1454_1455delinsTG (p.Leu485=) c.1370_1371delinsTG (p.Leu457=) c.1265+2580_1265+2581delinsTG (n.1265+2580_1265+2581delinsTG) c.1064_1065delinsTG (p.Leu355=) c.*1071_*1072delinsTG (n.*1071_*1072delinsTG) c.*717_*718delinsTG (n.*717_*718delinsTG) c.1334_1335delinsTG (p.Leu445=) n.2004_2005delinsTG c.1451_1452delinsTG (p.Leu484=) c.1466_1467delinsTG (p.Leu489=) c.*1342_*1343delinsTG (n.*1342_*1343delinsTG) c.1418_1419delinsTG (p.Leu473=) n.1680_1681delinsTG c.1583_1584delinsTG (p.Leu528=) c.1412_1413delinsTG (p.Leu471=) c.1409_1410delinsTG (p.Leu470=) c.1559_1560delinsTG (p.Leu520=) c.1358_1359delinsTG (p.Leu453=) | |
10 | g.69382676G>A | CA470276661 | HK1 | c.1455G>A (p.Leu485=) c.1371G>A (p.Leu457=) c.1265+2581G>A (n.1265+2581G>A) c.1065G>A (p.Leu355=) c.*1072G>A (n.*1072G>A) c.*718G>A (n.*718G>A) c.1335G>A (p.Leu445=) n.2005G>A c.1452G>A (p.Leu484=) c.1467G>A (p.Leu489=) c.*1343G>A (n.*1343G>A) c.1419G>A (p.Leu473=) n.1681G>A c.1584G>A (p.Leu528=) c.1413G>A (p.Leu471=) c.1410G>A (p.Leu470=) c.1560G>A (p.Leu520=) c.1359G>A (p.Leu453=) | gnomAD v4 |
10 | g.69382676G>C | CA470276662 | HK1 | c.1455G>C (p.Leu485=) c.1371G>C (p.Leu457=) c.1265+2581G>C (n.1265+2581G>C) c.1065G>C (p.Leu355=) c.*1072G>C (n.*1072G>C) c.*718G>C (n.*718G>C) c.1335G>C (p.Leu445=) n.2005G>C c.1452G>C (p.Leu484=) c.1467G>C (p.Leu489=) c.*1343G>C (n.*1343G>C) c.1419G>C (p.Leu473=) n.1681G>C c.1584G>C (p.Leu528=) c.1413G>C (p.Leu471=) c.1410G>C (p.Leu470=) c.1560G>C (p.Leu520=) c.1359G>C (p.Leu453=) | |
10 | g.69382676G>T | CA470276660 | HK1 | c.1455G>T (p.Leu485=) c.1371G>T (p.Leu457=) c.1265+2581G>T (n.1265+2581G>T) c.1065G>T (p.Leu355=) c.*1072G>T (n.*1072G>T) c.*718G>T (n.*718G>T) c.1335G>T (p.Leu445=) n.2005G>T c.1452G>T (p.Leu484=) c.1467G>T (p.Leu489=) c.*1343G>T (n.*1343G>T) c.1419G>T (p.Leu473=) n.1681G>T c.1584G>T (p.Leu528=) c.1413G>T (p.Leu471=) c.1410G>T (p.Leu470=) c.1560G>T (p.Leu520=) c.1359G>T (p.Leu453=) | |
10 | g.69382677del | CA594254125 | HK1 | c.1456del (p.Glu486ArgfsTer2) c.1372del (p.Glu458ArgfsTer2) c.1265+2582del (n.1265+2582del) c.1066del (p.Glu356ArgfsTer2) c.*1073del (n.*1073del) c.*719del (n.*719del) c.1336del (p.Glu446ArgfsTer2) n.2006del c.1453del (p.Glu485ArgfsTer2) c.1468del (p.Glu490ArgfsTer2) c.*1344del (n.*1344del) c.1420del (p.Glu474ArgfsTer2) n.1682del c.1585del (p.Glu529ArgfsTer2) c.1414del (p.Glu472ArgfsTer2) c.1411del (p.Glu471ArgfsTer2) c.1561del (p.Glu521ArgfsTer2) c.1360del (p.Glu454ArgfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.69382677G>A | CA376909968 | HK1 | c.1456G>A (p.Glu486Lys) c.1372G>A (p.Glu458Lys) c.1265+2582G>A (n.1265+2582G>A) c.1066G>A (p.Glu356Lys) c.*1073G>A (n.*1073G>A) c.*719G>A (n.*719G>A) c.1336G>A (p.Glu446Lys) n.2006G>A c.1453G>A (p.Glu485Lys) c.1468G>A (p.Glu490Lys) c.*1344G>A (n.*1344G>A) c.1420G>A (p.Glu474Lys) n.1682G>A c.1585G>A (p.Glu529Lys) c.1414G>A (p.Glu472Lys) c.1411G>A (p.Glu471Lys) c.1561G>A (p.Glu521Lys) c.1360G>A (p.Glu454Lys) | |
10 | g.69382677G>C | CA376909969 | HK1 | c.1456G>C (p.Glu486Gln) c.1372G>C (p.Glu458Gln) c.1265+2582G>C (n.1265+2582G>C) c.1066G>C (p.Glu356Gln) c.*1073G>C (n.*1073G>C) c.*719G>C (n.*719G>C) c.1336G>C (p.Glu446Gln) n.2006G>C c.1453G>C (p.Glu485Gln) c.1468G>C (p.Glu490Gln) c.*1344G>C (n.*1344G>C) c.1420G>C (p.Glu474Gln) n.1682G>C c.1585G>C (p.Glu529Gln) c.1414G>C (p.Glu472Gln) c.1411G>C (p.Glu471Gln) c.1561G>C (p.Glu521Gln) c.1360G>C (p.Glu454Gln) | |
10 | g.69382677G>T | CA376909970 | HK1 | c.1456G>T (p.Glu486Ter) c.1372G>T (p.Glu458Ter) c.1265+2582G>T (n.1265+2582G>T) c.1066G>T (p.Glu356Ter) c.*1073G>T (n.*1073G>T) c.*719G>T (n.*719G>T) c.1336G>T (p.Glu446Ter) n.2006G>T c.1453G>T (p.Glu485Ter) c.1468G>T (p.Glu490Ter) c.*1344G>T (n.*1344G>T) c.1420G>T (p.Glu474Ter) n.1682G>T c.1585G>T (p.Glu529Ter) c.1414G>T (p.Glu472Ter) c.1411G>T (p.Glu471Ter) c.1561G>T (p.Glu521Ter) c.1360G>T (p.Glu454Ter) | gnomAD v4 |
10 | g.69382678A>C | CA376909971 | HK1 | c.1457A>C (p.Glu486Ala) c.1373A>C (p.Glu458Ala) c.1265+2583A>C (n.1265+2583A>C) c.1067A>C (p.Glu356Ala) c.*1074A>C (n.*1074A>C) c.*720A>C (n.*720A>C) c.1337A>C (p.Glu446Ala) n.2007A>C c.1454A>C (p.Glu485Ala) c.1469A>C (p.Glu490Ala) c.*1345A>C (n.*1345A>C) c.1421A>C (p.Glu474Ala) n.1683A>C c.1586A>C (p.Glu529Ala) c.1415A>C (p.Glu472Ala) c.1412A>C (p.Glu471Ala) c.1562A>C (p.Glu521Ala) c.1361A>C (p.Glu454Ala) | gnomAD v4 |
10 | g.69382678A>G | CA376909972 | HK1 | c.1457A>G (p.Glu486Gly) c.1373A>G (p.Glu458Gly) c.1265+2583A>G (n.1265+2583A>G) c.1067A>G (p.Glu356Gly) c.*1074A>G (n.*1074A>G) c.*720A>G (n.*720A>G) c.1337A>G (p.Glu446Gly) n.2007A>G c.1454A>G (p.Glu485Gly) c.1469A>G (p.Glu490Gly) c.*1345A>G (n.*1345A>G) c.1421A>G (p.Glu474Gly) n.1683A>G c.1586A>G (p.Glu529Gly) c.1415A>G (p.Glu472Gly) c.1412A>G (p.Glu471Gly) c.1562A>G (p.Glu521Gly) c.1361A>G (p.Glu454Gly) | |
10 | g.69382678A>T | CA376909973 | HK1 | c.1457A>T (p.Glu486Val) c.1373A>T (p.Glu458Val) c.1265+2583A>T (n.1265+2583A>T) c.1067A>T (p.Glu356Val) c.*1074A>T (n.*1074A>T) c.*720A>T (n.*720A>T) c.1337A>T (p.Glu446Val) n.2007A>T c.1454A>T (p.Glu485Val) c.1469A>T (p.Glu490Val) c.*1345A>T (n.*1345A>T) c.1421A>T (p.Glu474Val) n.1683A>T c.1586A>T (p.Glu529Val) c.1415A>T (p.Glu472Val) c.1412A>T (p.Glu471Val) c.1562A>T (p.Glu521Val) c.1361A>T (p.Glu454Val) | |
10 | g.69382679G>A | CA470276665 | HK1 | c.1458G>A (p.Glu486=) c.1374G>A (p.Glu458=) c.1265+2584G>A (n.1265+2584G>A) c.1068G>A (p.Glu356=) c.*1075G>A (n.*1075G>A) c.*721G>A (n.*721G>A) c.1338G>A (p.Glu446=) n.2008G>A c.1455G>A (p.Glu485=) c.1470G>A (p.Glu490=) c.*1346G>A (n.*1346G>A) c.1422G>A (p.Glu474=) n.1684G>A c.1587G>A (p.Glu529=) c.1416G>A (p.Glu472=) c.1413G>A (p.Glu471=) c.1563G>A (p.Glu521=) c.1362G>A (p.Glu454=) | |
10 | g.69382679G>C | CA376909974 | HK1 | c.1458G>C (p.Glu486Asp) c.1374G>C (p.Glu458Asp) c.1265+2584G>C (n.1265+2584G>C) c.1068G>C (p.Glu356Asp) c.*1075G>C (n.*1075G>C) c.*721G>C (n.*721G>C) c.1338G>C (p.Glu446Asp) n.2008G>C c.1455G>C (p.Glu485Asp) c.1470G>C (p.Glu490Asp) c.*1346G>C (n.*1346G>C) c.1422G>C (p.Glu474Asp) n.1684G>C c.1587G>C (p.Glu529Asp) c.1416G>C (p.Glu472Asp) c.1413G>C (p.Glu471Asp) c.1563G>C (p.Glu521Asp) c.1362G>C (p.Glu454Asp) | |
10 | g.69382679G>T | CA376909975 | HK1 | c.1458G>T (p.Glu486Asp) c.1374G>T (p.Glu458Asp) c.1265+2584G>T (n.1265+2584G>T) c.1068G>T (p.Glu356Asp) c.*1075G>T (n.*1075G>T) c.*721G>T (n.*721G>T) c.1338G>T (p.Glu446Asp) n.2008G>T c.1455G>T (p.Glu485Asp) c.1470G>T (p.Glu490Asp) c.*1346G>T (n.*1346G>T) c.1422G>T (p.Glu474Asp) n.1684G>T c.1587G>T (p.Glu529Asp) c.1416G>T (p.Glu472Asp) c.1413G>T (p.Glu471Asp) c.1563G>T (p.Glu521Asp) c.1362G>T (p.Glu454Asp) | |
10 | g.69382680G>A | CA376909976 | HK1 | c.1459G>A (p.Val487Met) c.1375G>A (p.Val459Met) c.1265+2585G>A (n.1265+2585G>A) c.1069G>A (p.Val357Met) c.*1076G>A (n.*1076G>A) c.*722G>A (n.*722G>A) c.1339G>A (p.Val447Met) n.2009G>A c.1456G>A (p.Val486Met) c.1471G>A (p.Val491Met) c.*1347G>A (n.*1347G>A) c.1423G>A (p.Val475Met) n.1685G>A c.1588G>A (p.Val530Met) c.1417G>A (p.Val473Met) c.1414G>A (p.Val472Met) c.1564G>A (p.Val522Met) c.1363G>A (p.Val455Met) | |
10 | g.69382680G>C | CA376909977 | HK1 | c.1459G>C (p.Val487Leu) c.1375G>C (p.Val459Leu) c.1265+2585G>C (n.1265+2585G>C) c.1069G>C (p.Val357Leu) c.*1076G>C (n.*1076G>C) c.*722G>C (n.*722G>C) c.1339G>C (p.Val447Leu) n.2009G>C c.1456G>C (p.Val486Leu) c.1471G>C (p.Val491Leu) c.*1347G>C (n.*1347G>C) c.1423G>C (p.Val475Leu) n.1685G>C c.1588G>C (p.Val530Leu) c.1417G>C (p.Val473Leu) c.1414G>C (p.Val472Leu) c.1564G>C (p.Val522Leu) c.1363G>C (p.Val455Leu) | |
10 | g.69382680G>T | CA376909978 | HK1 | c.1459G>T (p.Val487Leu) c.1375G>T (p.Val459Leu) c.1265+2585G>T (n.1265+2585G>T) c.1069G>T (p.Val357Leu) c.*1076G>T (n.*1076G>T) c.*722G>T (n.*722G>T) c.1339G>T (p.Val447Leu) n.2009G>T c.1456G>T (p.Val486Leu) c.1471G>T (p.Val491Leu) c.*1347G>T (n.*1347G>T) c.1423G>T (p.Val475Leu) n.1685G>T c.1588G>T (p.Val530Leu) c.1417G>T (p.Val473Leu) c.1414G>T (p.Val472Leu) c.1564G>T (p.Val522Leu) c.1363G>T (p.Val455Leu) | |
10 | g.69382681T>A | CA376909981 | HK1 | c.1460T>A (p.Val487Glu) c.1376T>A (p.Val459Glu) c.1265+2586T>A (n.1265+2586T>A) c.1070T>A (p.Val357Glu) c.*1077T>A (n.*1077T>A) c.*723T>A (n.*723T>A) c.1340T>A (p.Val447Glu) n.2010T>A c.1457T>A (p.Val486Glu) c.1472T>A (p.Val491Glu) c.*1348T>A (n.*1348T>A) c.1424T>A (p.Val475Glu) n.1686T>A c.1589T>A (p.Val530Glu) c.1418T>A (p.Val473Glu) c.1415T>A (p.Val472Glu) c.1565T>A (p.Val522Glu) c.1364T>A (p.Val455Glu) | |
10 | g.69382681T>C | CA376909980 | HK1 | c.1460T>C (p.Val487Ala) c.1376T>C (p.Val459Ala) c.1265+2586T>C (n.1265+2586T>C) c.1070T>C (p.Val357Ala) c.*1077T>C (n.*1077T>C) c.*723T>C (n.*723T>C) c.1340T>C (p.Val447Ala) n.2010T>C c.1457T>C (p.Val486Ala) c.1472T>C (p.Val491Ala) c.*1348T>C (n.*1348T>C) c.1424T>C (p.Val475Ala) n.1686T>C c.1589T>C (p.Val530Ala) c.1418T>C (p.Val473Ala) c.1415T>C (p.Val472Ala) c.1565T>C (p.Val522Ala) c.1364T>C (p.Val455Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.69382681T>G | CA376909979 | HK1 | c.1460T>G (p.Val487Gly) c.1376T>G (p.Val459Gly) c.1265+2586T>G (n.1265+2586T>G) c.1070T>G (p.Val357Gly) c.*1077T>G (n.*1077T>G) c.*723T>G (n.*723T>G) c.1340T>G (p.Val447Gly) n.2010T>G c.1457T>G (p.Val486Gly) c.1472T>G (p.Val491Gly) c.*1348T>G (n.*1348T>G) c.1424T>G (p.Val475Gly) n.1686T>G c.1589T>G (p.Val530Gly) c.1418T>G (p.Val473Gly) c.1415T>G (p.Val472Gly) c.1565T>G (p.Val522Gly) c.1364T>G (p.Val455Gly) | dbSNP |
10 | g.69382681T= | CA1917772217 | HK1 | c.1460T= (p.Val487=) c.1376T= (p.Val459=) c.1265+2586T= (n.1265+2586T=) c.1070T= (p.Val357=) c.*1077T= (n.*1077T=) c.*723T= (n.*723T=) c.1340T= (p.Val447=) n.2010T= c.1457T= (p.Val486=) c.1472T= (p.Val491=) c.*1348T= (n.*1348T=) c.1424T= (p.Val475=) n.1686T= c.1589T= (p.Val530=) c.1418T= (p.Val473=) c.1415T= (p.Val472=) c.1565T= (p.Val522=) c.1364T= (p.Val455=) | |
10 | g.69382682G>A | CA470276479 | HK1 | c.1461G>A (p.Val487=) c.1377G>A (p.Val459=) c.1265+2587G>A (n.1265+2587G>A) c.1071G>A (p.Val357=) c.*1078G>A (n.*1078G>A) c.*724G>A (n.*724G>A) c.1341G>A (p.Val447=) n.2011G>A c.1458G>A (p.Val486=) c.1473G>A (p.Val491=) c.*1349G>A (n.*1349G>A) c.1425G>A (p.Val475=) n.1687G>A c.1590G>A (p.Val530=) c.1419G>A (p.Val473=) c.1416G>A (p.Val472=) c.1566G>A (p.Val522=) c.1365G>A (p.Val455=) | dbSNP |
10 | g.69382682G>C | CA470276475 | HK1 | c.1461G>C (p.Val487=) c.1377G>C (p.Val459=) c.1265+2587G>C (n.1265+2587G>C) c.1071G>C (p.Val357=) c.*1078G>C (n.*1078G>C) c.*724G>C (n.*724G>C) c.1341G>C (p.Val447=) n.2011G>C c.1458G>C (p.Val486=) c.1473G>C (p.Val491=) c.*1349G>C (n.*1349G>C) c.1425G>C (p.Val475=) n.1687G>C c.1590G>C (p.Val530=) c.1419G>C (p.Val473=) c.1416G>C (p.Val472=) c.1566G>C (p.Val522=) c.1365G>C (p.Val455=) | |
10 | g.69382682G= | CA1917772221 | HK1 | c.1461G= (p.Val487=) c.1377G= (p.Val459=) c.1265+2587G= (n.1265+2587G=) c.1071G= (p.Val357=) c.*1078G= (n.*1078G=) c.*724G= (n.*724G=) c.1341G= (p.Val447=) n.2011G= c.1458G= (p.Val486=) c.1473G= (p.Val491=) c.*1349G= (n.*1349G=) c.1425G= (p.Val475=) n.1687G= c.1590G= (p.Val530=) c.1419G= (p.Val473=) c.1416G= (p.Val472=) c.1566G= (p.Val522=) c.1365G= (p.Val455=) | |
10 | g.69382682G>T | CA5532605 | HK1 | c.1461G>T (p.Val487=) c.1377G>T (p.Val459=) c.1265+2587G>T (n.1265+2587G>T) c.1071G>T (p.Val357=) c.*1078G>T (n.*1078G>T) c.*724G>T (n.*724G>T) c.1341G>T (p.Val447=) n.2011G>T c.1458G>T (p.Val486=) c.1473G>T (p.Val491=) c.*1349G>T (n.*1349G>T) c.1425G>T (p.Val475=) n.1687G>T c.1590G>T (p.Val530=) c.1419G>T (p.Val473=) c.1416G>T (p.Val472=) c.1566G>T (p.Val522=) c.1365G>T (p.Val455=) | dbSNP ExAC gnomAD v2 |
10 | g.69382683A>C | CA376909982 | HK1 | c.1462A>C (p.Lys488Gln) c.1378A>C (p.Lys460Gln) c.1265+2588A>C (n.1265+2588A>C) c.1072A>C (p.Lys358Gln) c.*1079A>C (n.*1079A>C) c.*725A>C (n.*725A>C) c.1342A>C (p.Lys448Gln) n.2012A>C c.1459A>C (p.Lys487Gln) c.1474A>C (p.Lys492Gln) c.*1350A>C (n.*1350A>C) c.1426A>C (p.Lys476Gln) n.1688A>C c.1591A>C (p.Lys531Gln) c.1420A>C (p.Lys474Gln) c.1417A>C (p.Lys473Gln) c.1567A>C (p.Lys523Gln) c.1366A>C (p.Lys456Gln) | |
10 | g.69382683A>G | CA376909983 | HK1 | c.1462A>G (p.Lys488Glu) c.1378A>G (p.Lys460Glu) c.1265+2588A>G (n.1265+2588A>G) c.1072A>G (p.Lys358Glu) c.*1079A>G (n.*1079A>G) c.*725A>G (n.*725A>G) c.1342A>G (p.Lys448Glu) n.2012A>G c.1459A>G (p.Lys487Glu) c.1474A>G (p.Lys492Glu) c.*1350A>G (n.*1350A>G) c.1426A>G (p.Lys476Glu) n.1688A>G c.1591A>G (p.Lys531Glu) c.1420A>G (p.Lys474Glu) c.1417A>G (p.Lys473Glu) c.1567A>G (p.Lys523Glu) c.1366A>G (p.Lys456Glu) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
10 | g.69382683A>T | CA376909984 | HK1 | c.1462A>T (p.Lys488Ter) c.1378A>T (p.Lys460Ter) c.1265+2588A>T (n.1265+2588A>T) c.1072A>T (p.Lys358Ter) c.*1079A>T (n.*1079A>T) c.*725A>T (n.*725A>T) c.1342A>T (p.Lys448Ter) n.2012A>T c.1459A>T (p.Lys487Ter) c.1474A>T (p.Lys492Ter) c.*1350A>T (n.*1350A>T) c.1426A>T (p.Lys476Ter) n.1688A>T c.1591A>T (p.Lys531Ter) c.1420A>T (p.Lys474Ter) c.1417A>T (p.Lys473Ter) c.1567A>T (p.Lys523Ter) c.1366A>T (p.Lys456Ter) | |
10 | g.69382684A= | CA1917772224 | HK1 | c.1463A= (p.Lys488=) c.1379A= (p.Lys460=) c.1265+2589A= (n.1265+2589A=) c.1073A= (p.Lys358=) c.*1080A= (n.*1080A=) c.*726A= (n.*726A=) c.1343A= (p.Lys448=) n.2013A= c.1460A= (p.Lys487=) c.1475A= (p.Lys492=) c.*1351A= (n.*1351A=) c.1427A= (p.Lys476=) n.1689A= c.1592A= (p.Lys531=) c.1421A= (p.Lys474=) c.1418A= (p.Lys473=) c.1568A= (p.Lys523=) c.1367A= (p.Lys456=) | |
10 | g.69382684A>C | CA376909985 | HK1 | c.1463A>C (p.Lys488Thr) c.1379A>C (p.Lys460Thr) c.1265+2589A>C (n.1265+2589A>C) c.1073A>C (p.Lys358Thr) c.*1080A>C (n.*1080A>C) c.*726A>C (n.*726A>C) c.1343A>C (p.Lys448Thr) n.2013A>C c.1460A>C (p.Lys487Thr) c.1475A>C (p.Lys492Thr) c.*1351A>C (n.*1351A>C) c.1427A>C (p.Lys476Thr) n.1689A>C c.1592A>C (p.Lys531Thr) c.1421A>C (p.Lys474Thr) c.1418A>C (p.Lys473Thr) c.1568A>C (p.Lys523Thr) c.1367A>C (p.Lys456Thr) | dbSNP |
10 | g.69382684A>G | CA376909986 | HK1 | c.1463A>G (p.Lys488Arg) c.1379A>G (p.Lys460Arg) c.1265+2589A>G (n.1265+2589A>G) c.1073A>G (p.Lys358Arg) c.*1080A>G (n.*1080A>G) c.*726A>G (n.*726A>G) c.1343A>G (p.Lys448Arg) n.2013A>G c.1460A>G (p.Lys487Arg) c.1475A>G (p.Lys492Arg) c.*1351A>G (n.*1351A>G) c.1427A>G (p.Lys476Arg) n.1689A>G c.1592A>G (p.Lys531Arg) c.1421A>G (p.Lys474Arg) c.1418A>G (p.Lys473Arg) c.1568A>G (p.Lys523Arg) c.1367A>G (p.Lys456Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.69382684A>T | CA376909987 | HK1 | c.1463A>T (p.Lys488Met) c.1379A>T (p.Lys460Met) c.1265+2589A>T (n.1265+2589A>T) c.1073A>T (p.Lys358Met) c.*1080A>T (n.*1080A>T) c.*726A>T (n.*726A>T) c.1343A>T (p.Lys448Met) n.2013A>T c.1460A>T (p.Lys487Met) c.1475A>T (p.Lys492Met) c.*1351A>T (n.*1351A>T) c.1427A>T (p.Lys476Met) n.1689A>T c.1592A>T (p.Lys531Met) c.1421A>T (p.Lys474Met) c.1418A>T (p.Lys473Met) c.1568A>T (p.Lys523Met) c.1367A>T (p.Lys456Met) | |
10 | g.69382685G>A | CA470276482 | HK1 | c.1464G>A (p.Lys488=) c.1380G>A (p.Lys460=) c.1265+2590G>A (n.1265+2590G>A) c.1074G>A (p.Lys358=) c.*1081G>A (n.*1081G>A) c.*727G>A (n.*727G>A) c.1344G>A (p.Lys448=) n.2014G>A c.1461G>A (p.Lys487=) c.1476G>A (p.Lys492=) c.*1352G>A (n.*1352G>A) c.1428G>A (p.Lys476=) n.1690G>A c.1593G>A (p.Lys531=) c.1422G>A (p.Lys474=) c.1419G>A (p.Lys473=) c.1569G>A (p.Lys523=) c.1368G>A (p.Lys456=) | |
10 | g.69382685G>C | CA376909988 | HK1 | c.1464G>C (p.Lys488Asn) c.1380G>C (p.Lys460Asn) c.1265+2590G>C (n.1265+2590G>C) c.1074G>C (p.Lys358Asn) c.*1081G>C (n.*1081G>C) c.*727G>C (n.*727G>C) c.1344G>C (p.Lys448Asn) n.2014G>C c.1461G>C (p.Lys487Asn) c.1476G>C (p.Lys492Asn) c.*1352G>C (n.*1352G>C) c.1428G>C (p.Lys476Asn) n.1690G>C c.1593G>C (p.Lys531Asn) c.1422G>C (p.Lys474Asn) c.1419G>C (p.Lys473Asn) c.1569G>C (p.Lys523Asn) c.1368G>C (p.Lys456Asn) | |
10 | g.69382685G>T | CA376909989 | HK1 | c.1464G>T (p.Lys488Asn) c.1380G>T (p.Lys460Asn) c.1265+2590G>T (n.1265+2590G>T) c.1074G>T (p.Lys358Asn) c.*1081G>T (n.*1081G>T) c.*727G>T (n.*727G>T) c.1344G>T (p.Lys448Asn) n.2014G>T c.1461G>T (p.Lys487Asn) c.1476G>T (p.Lys492Asn) c.*1352G>T (n.*1352G>T) c.1428G>T (p.Lys476Asn) n.1690G>T c.1593G>T (p.Lys531Asn) c.1422G>T (p.Lys474Asn) c.1419G>T (p.Lys473Asn) c.1569G>T (p.Lys523Asn) c.1368G>T (p.Lys456Asn) | |
10 | g.69382686A>C | CA376909990 | HK1 | c.1465A>C (p.Lys489Gln) c.1381A>C (p.Lys461Gln) c.1265+2591A>C (n.1265+2591A>C) c.1075A>C (p.Lys359Gln) c.*1082A>C (n.*1082A>C) c.*728A>C (n.*728A>C) c.1345A>C (p.Lys449Gln) n.2015A>C c.1462A>C (p.Lys488Gln) c.1477A>C (p.Lys493Gln) c.*1353A>C (n.*1353A>C) c.1429A>C (p.Lys477Gln) n.1691A>C c.1594A>C (p.Lys532Gln) c.1423A>C (p.Lys475Gln) c.1420A>C (p.Lys474Gln) c.1570A>C (p.Lys524Gln) c.1369A>C (p.Lys457Gln) | |
10 | g.69382686A>G | CA376909991 | HK1 | c.1465A>G (p.Lys489Glu) c.1381A>G (p.Lys461Glu) c.1265+2591A>G (n.1265+2591A>G) c.1075A>G (p.Lys359Glu) c.*1082A>G (n.*1082A>G) c.*728A>G (n.*728A>G) c.1345A>G (p.Lys449Glu) n.2015A>G c.1462A>G (p.Lys488Glu) c.1477A>G (p.Lys493Glu) c.*1353A>G (n.*1353A>G) c.1429A>G (p.Lys477Glu) n.1691A>G c.1594A>G (p.Lys532Glu) c.1423A>G (p.Lys475Glu) c.1420A>G (p.Lys474Glu) c.1570A>G (p.Lys524Glu) c.1369A>G (p.Lys457Glu) | |
10 | g.69382686A>T | CA376909992 | HK1 | c.1465A>T (p.Lys489Ter) c.1381A>T (p.Lys461Ter) c.1265+2591A>T (n.1265+2591A>T) c.1075A>T (p.Lys359Ter) c.*1082A>T (n.*1082A>T) c.*728A>T (n.*728A>T) c.1345A>T (p.Lys449Ter) n.2015A>T c.1462A>T (p.Lys488Ter) c.1477A>T (p.Lys493Ter) c.*1353A>T (n.*1353A>T) c.1429A>T (p.Lys477Ter) n.1691A>T c.1594A>T (p.Lys532Ter) c.1423A>T (p.Lys475Ter) c.1420A>T (p.Lys474Ter) c.1570A>T (p.Lys524Ter) c.1369A>T (p.Lys457Ter) | |
10 | g.69382687A>C | CA376909995 | HK1 | c.1466A>C (p.Lys489Thr) c.1382A>C (p.Lys461Thr) c.1265+2592A>C (n.1265+2592A>C) c.1076A>C (p.Lys359Thr) c.*1083A>C (n.*1083A>C) c.*729A>C (n.*729A>C) c.1346A>C (p.Lys449Thr) n.2016A>C c.1463A>C (p.Lys488Thr) c.1478A>C (p.Lys493Thr) c.*1354A>C (n.*1354A>C) c.1430A>C (p.Lys477Thr) n.1692A>C c.1595A>C (p.Lys532Thr) c.1424A>C (p.Lys475Thr) c.1421A>C (p.Lys474Thr) c.1571A>C (p.Lys524Thr) c.1370A>C (p.Lys457Thr) | |
10 | g.69382687A>G | CA376909993 | HK1 | c.1466A>G (p.Lys489Arg) c.1382A>G (p.Lys461Arg) c.1265+2592A>G (n.1265+2592A>G) c.1076A>G (p.Lys359Arg) c.*1083A>G (n.*1083A>G) c.*729A>G (n.*729A>G) c.1346A>G (p.Lys449Arg) n.2016A>G c.1463A>G (p.Lys488Arg) c.1478A>G (p.Lys493Arg) c.*1354A>G (n.*1354A>G) c.1430A>G (p.Lys477Arg) n.1692A>G c.1595A>G (p.Lys532Arg) c.1424A>G (p.Lys475Arg) c.1421A>G (p.Lys474Arg) c.1571A>G (p.Lys524Arg) c.1370A>G (p.Lys457Arg) | gnomAD v4 |
10 | g.69382687A>T | CA376909994 | HK1 | c.1466A>T (p.Lys489Met) c.1382A>T (p.Lys461Met) c.1265+2592A>T (n.1265+2592A>T) c.1076A>T (p.Lys359Met) c.*1083A>T (n.*1083A>T) c.*729A>T (n.*729A>T) c.1346A>T (p.Lys449Met) n.2016A>T c.1463A>T (p.Lys488Met) c.1478A>T (p.Lys493Met) c.*1354A>T (n.*1354A>T) c.1430A>T (p.Lys477Met) n.1692A>T c.1595A>T (p.Lys532Met) c.1424A>T (p.Lys475Met) c.1421A>T (p.Lys474Met) c.1571A>T (p.Lys524Met) c.1370A>T (p.Lys457Met) | |
10 | g.69382688G>A | CA470276488 | HK1 | c.1467G>A (p.Lys489=) c.1383G>A (p.Lys461=) c.1265+2593G>A (n.1265+2593G>A) c.1077G>A (p.Lys359=) c.*1084G>A (n.*1084G>A) c.*730G>A (n.*730G>A) c.1347G>A (p.Lys449=) n.2017G>A c.1464G>A (p.Lys488=) c.1479G>A (p.Lys493=) c.*1355G>A (n.*1355G>A) c.1431G>A (p.Lys477=) n.1693G>A c.1596G>A (p.Lys532=) c.1425G>A (p.Lys475=) c.1422G>A (p.Lys474=) c.1572G>A (p.Lys524=) c.1371G>A (p.Lys457=) | |
10 | g.69382688G>C | CA376909996 | HK1 | c.1467G>C (p.Lys489Asn) c.1383G>C (p.Lys461Asn) c.1265+2593G>C (n.1265+2593G>C) c.1077G>C (p.Lys359Asn) c.*1084G>C (n.*1084G>C) c.*730G>C (n.*730G>C) c.1347G>C (p.Lys449Asn) n.2017G>C c.1464G>C (p.Lys488Asn) c.1479G>C (p.Lys493Asn) c.*1355G>C (n.*1355G>C) c.1431G>C (p.Lys477Asn) n.1693G>C c.1596G>C (p.Lys532Asn) c.1425G>C (p.Lys475Asn) c.1422G>C (p.Lys474Asn) c.1572G>C (p.Lys524Asn) c.1371G>C (p.Lys457Asn) | |
10 | g.69382688G>T | CA376909997 | HK1 | c.1467G>T (p.Lys489Asn) c.1383G>T (p.Lys461Asn) c.1265+2593G>T (n.1265+2593G>T) c.1077G>T (p.Lys359Asn) c.*1084G>T (n.*1084G>T) c.*730G>T (n.*730G>T) c.1347G>T (p.Lys449Asn) n.2017G>T c.1464G>T (p.Lys488Asn) c.1479G>T (p.Lys493Asn) c.*1355G>T (n.*1355G>T) c.1431G>T (p.Lys477Asn) n.1693G>T c.1596G>T (p.Lys532Asn) c.1425G>T (p.Lys475Asn) c.1422G>T (p.Lys474Asn) c.1572G>T (p.Lys524Asn) c.1371G>T (p.Lys457Asn) | |
10 | g.69382689A= | CA1917772228 | HK1 | c.1468A= (p.Arg490=) c.1384A= (p.Arg462=) c.1265+2594A= (n.1265+2594A=) c.1078A= (p.Arg360=) c.*1085A= (n.*1085A=) c.*731A= (n.*731A=) c.1348A= (p.Arg450=) n.2018A= c.1465A= (p.Arg489=) c.1480A= (p.Arg494=) c.*1356A= (n.*1356A=) c.1432A= (p.Arg478=) n.1694A= c.1597A= (p.Arg533=) c.1426A= (p.Arg476=) c.1423A= (p.Arg475=) c.1573A= (p.Arg525=) c.1372A= (p.Arg458=) | |
10 | g.69382689A>C | CA470276490 | HK1 | c.1468A>C (p.Arg490=) c.1384A>C (p.Arg462=) c.1265+2594A>C (n.1265+2594A>C) c.1078A>C (p.Arg360=) c.*1085A>C (n.*1085A>C) c.*731A>C (n.*731A>C) c.1348A>C (p.Arg450=) n.2018A>C c.1465A>C (p.Arg489=) c.1480A>C (p.Arg494=) c.*1356A>C (n.*1356A>C) c.1432A>C (p.Arg478=) n.1694A>C c.1597A>C (p.Arg533=) c.1426A>C (p.Arg476=) c.1423A>C (p.Arg475=) c.1573A>C (p.Arg525=) c.1372A>C (p.Arg458=) | |
10 | g.69382689A>G | CA376909998 | HK1 | c.1468A>G (p.Arg490Gly) c.1384A>G (p.Arg462Gly) c.1265+2594A>G (n.1265+2594A>G) c.1078A>G (p.Arg360Gly) c.*1085A>G (n.*1085A>G) c.*731A>G (n.*731A>G) c.1348A>G (p.Arg450Gly) n.2018A>G c.1465A>G (p.Arg489Gly) c.1480A>G (p.Arg494Gly) c.*1356A>G (n.*1356A>G) c.1432A>G (p.Arg478Gly) n.1694A>G c.1597A>G (p.Arg533Gly) c.1426A>G (p.Arg476Gly) c.1423A>G (p.Arg475Gly) c.1573A>G (p.Arg525Gly) c.1372A>G (p.Arg458Gly) | dbSNP gnomAD v4 |
10 | g.69382689A>T | CA376909999 | HK1 | c.1468A>T (p.Arg490Trp) c.1384A>T (p.Arg462Trp) c.1265+2594A>T (n.1265+2594A>T) c.1078A>T (p.Arg360Trp) c.*1085A>T (n.*1085A>T) c.*731A>T (n.*731A>T) c.1348A>T (p.Arg450Trp) n.2018A>T c.1465A>T (p.Arg489Trp) c.1480A>T (p.Arg494Trp) c.*1356A>T (n.*1356A>T) c.1432A>T (p.Arg478Trp) n.1694A>T c.1597A>T (p.Arg533Trp) c.1426A>T (p.Arg476Trp) c.1423A>T (p.Arg475Trp) c.1573A>T (p.Arg525Trp) c.1372A>T (p.Arg458Trp) | |
10 | g.69382690G>A | CA376910000 | HK1 | c.1469G>A (p.Arg490Lys) c.1385G>A (p.Arg462Lys) c.1265+2595G>A (n.1265+2595G>A) c.1079G>A (p.Arg360Lys) c.*1086G>A (n.*1086G>A) c.*732G>A (n.*732G>A) c.1349G>A (p.Arg450Lys) n.2019G>A c.1466G>A (p.Arg489Lys) c.1481G>A (p.Arg494Lys) c.*1357G>A (n.*1357G>A) c.1433G>A (p.Arg478Lys) n.1695G>A c.1598G>A (p.Arg533Lys) c.1427G>A (p.Arg476Lys) c.1424G>A (p.Arg475Lys) c.1574G>A (p.Arg525Lys) c.1373G>A (p.Arg458Lys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.69382690G>C | CA376910001 | HK1 | c.1469G>C (p.Arg490Thr) c.1385G>C (p.Arg462Thr) c.1265+2595G>C (n.1265+2595G>C) c.1079G>C (p.Arg360Thr) c.*1086G>C (n.*1086G>C) c.*732G>C (n.*732G>C) c.1349G>C (p.Arg450Thr) n.2019G>C c.1466G>C (p.Arg489Thr) c.1481G>C (p.Arg494Thr) c.*1357G>C (n.*1357G>C) c.1433G>C (p.Arg478Thr) n.1695G>C c.1598G>C (p.Arg533Thr) c.1427G>C (p.Arg476Thr) c.1424G>C (p.Arg475Thr) c.1574G>C (p.Arg525Thr) c.1373G>C (p.Arg458Thr) | |
10 | g.69382690G= | CA1917772232 | HK1 | c.1469G= (p.Arg490=) c.1385G= (p.Arg462=) c.1265+2595G= (n.1265+2595G=) c.1079G= (p.Arg360=) c.*1086G= (n.*1086G=) c.*732G= (n.*732G=) c.1349G= (p.Arg450=) n.2019G= c.1466G= (p.Arg489=) c.1481G= (p.Arg494=) c.*1357G= (n.*1357G=) c.1433G= (p.Arg478=) n.1695G= c.1598G= (p.Arg533=) c.1427G= (p.Arg476=) c.1424G= (p.Arg475=) c.1574G= (p.Arg525=) c.1373G= (p.Arg458=) | |
10 | g.69382690G>T | CA376910002 | HK1 | c.1469G>T (p.Arg490Met) c.1385G>T (p.Arg462Met) c.1265+2595G>T (n.1265+2595G>T) c.1079G>T (p.Arg360Met) c.*1086G>T (n.*1086G>T) c.*732G>T (n.*732G>T) c.1349G>T (p.Arg450Met) n.2019G>T c.1466G>T (p.Arg489Met) c.1481G>T (p.Arg494Met) c.*1357G>T (n.*1357G>T) c.1433G>T (p.Arg478Met) n.1695G>T c.1598G>T (p.Arg533Met) c.1427G>T (p.Arg476Met) c.1424G>T (p.Arg475Met) c.1574G>T (p.Arg525Met) c.1373G>T (p.Arg458Met) | |
10 | g.69382691G>A | CA470276494 | HK1 | c.1470G>A (p.Arg490=) c.1386G>A (p.Arg462=) c.1265+2596G>A (n.1265+2596G>A) c.1080G>A (p.Arg360=) c.*1087G>A (n.*1087G>A) c.*733G>A (n.*733G>A) c.1350G>A (p.Arg450=) n.2020G>A c.1467G>A (p.Arg489=) c.1482G>A (p.Arg494=) c.*1358G>A (n.*1358G>A) c.1434G>A (p.Arg478=) n.1696G>A c.1599G>A (p.Arg533=) c.1428G>A (p.Arg476=) c.1425G>A (p.Arg475=) c.1575G>A (p.Arg525=) c.1374G>A (p.Arg458=) | |
10 | g.69382691G>C | CA376910003 | HK1 | c.1470G>C (p.Arg490Ser) c.1386G>C (p.Arg462Ser) c.1265+2596G>C (n.1265+2596G>C) c.1080G>C (p.Arg360Ser) c.*1087G>C (n.*1087G>C) c.*733G>C (n.*733G>C) c.1350G>C (p.Arg450Ser) n.2020G>C c.1467G>C (p.Arg489Ser) c.1482G>C (p.Arg494Ser) c.*1358G>C (n.*1358G>C) c.1434G>C (p.Arg478Ser) n.1696G>C c.1599G>C (p.Arg533Ser) c.1428G>C (p.Arg476Ser) c.1425G>C (p.Arg475Ser) c.1575G>C (p.Arg525Ser) c.1374G>C (p.Arg458Ser) | |
10 | g.69382691G>T | CA376910004 | HK1 | c.1470G>T (p.Arg490Ser) c.1386G>T (p.Arg462Ser) c.1265+2596G>T (n.1265+2596G>T) c.1080G>T (p.Arg360Ser) c.*1087G>T (n.*1087G>T) c.*733G>T (n.*733G>T) c.1350G>T (p.Arg450Ser) n.2020G>T c.1467G>T (p.Arg489Ser) c.1482G>T (p.Arg494Ser) c.*1358G>T (n.*1358G>T) c.1434G>T (p.Arg478Ser) n.1696G>T c.1599G>T (p.Arg533Ser) c.1428G>T (p.Arg476Ser) c.1425G>T (p.Arg475Ser) c.1575G>T (p.Arg525Ser) c.1374G>T (p.Arg458Ser) | dbSNP |
10 | g.69382692A>C | CA376910005 | HK1 | c.1471A>C (p.Met491Leu) c.1387A>C (p.Met463Leu) c.1265+2597A>C (n.1265+2597A>C) c.1081A>C (p.Met361Leu) c.*1088A>C (n.*1088A>C) c.*734A>C (n.*734A>C) c.1351A>C (p.Met451Leu) n.2021A>C c.1468A>C (p.Met490Leu) c.1483A>C (p.Met495Leu) c.*1359A>C (n.*1359A>C) c.1435A>C (p.Met479Leu) n.1697A>C c.1600A>C (p.Met534Leu) c.1429A>C (p.Met477Leu) c.1426A>C (p.Met476Leu) c.1576A>C (p.Met526Leu) c.1375A>C (p.Met459Leu) | |
10 | g.69382692A>G | CA376910006 | HK1 | c.1471A>G (p.Met491Val) c.1387A>G (p.Met463Val) c.1265+2597A>G (n.1265+2597A>G) c.1081A>G (p.Met361Val) c.*1088A>G (n.*1088A>G) c.*734A>G (n.*734A>G) c.1351A>G (p.Met451Val) n.2021A>G c.1468A>G (p.Met490Val) c.1483A>G (p.Met495Val) c.*1359A>G (n.*1359A>G) c.1435A>G (p.Met479Val) n.1697A>G c.1600A>G (p.Met534Val) c.1429A>G (p.Met477Val) c.1426A>G (p.Met476Val) c.1576A>G (p.Met526Val) c.1375A>G (p.Met459Val) | |
10 | g.69382692A>T | CA376910007 | HK1 | c.1471A>T (p.Met491Leu) c.1387A>T (p.Met463Leu) c.1265+2597A>T (n.1265+2597A>T) c.1081A>T (p.Met361Leu) c.*1088A>T (n.*1088A>T) c.*734A>T (n.*734A>T) c.1351A>T (p.Met451Leu) n.2021A>T c.1468A>T (p.Met490Leu) c.1483A>T (p.Met495Leu) c.*1359A>T (n.*1359A>T) c.1435A>T (p.Met479Leu) n.1697A>T c.1600A>T (p.Met534Leu) c.1429A>T (p.Met477Leu) c.1426A>T (p.Met476Leu) c.1576A>T (p.Met526Leu) c.1375A>T (p.Met459Leu) | gnomAD v4 |
10 | g.69382693T>A | CA376910009 | HK1 | c.1472T>A (p.Met491Lys) c.1388T>A (p.Met463Lys) c.1265+2598T>A (n.1265+2598T>A) c.1082T>A (p.Met361Lys) c.*1089T>A (n.*1089T>A) c.*735T>A (n.*735T>A) c.1352T>A (p.Met451Lys) n.2022T>A c.1469T>A (p.Met490Lys) c.1484T>A (p.Met495Lys) c.*1360T>A (n.*1360T>A) c.1436T>A (p.Met479Lys) n.1698T>A c.1601T>A (p.Met534Lys) c.1430T>A (p.Met477Lys) c.1427T>A (p.Met476Lys) c.1577T>A (p.Met526Lys) c.1376T>A (p.Met459Lys) | |
10 | g.69382693T>C | CA376910010 | HK1 | c.1472T>C (p.Met491Thr) c.1388T>C (p.Met463Thr) c.1265+2598T>C (n.1265+2598T>C) c.1082T>C (p.Met361Thr) c.*1089T>C (n.*1089T>C) c.*735T>C (n.*735T>C) c.1352T>C (p.Met451Thr) n.2022T>C c.1469T>C (p.Met490Thr) c.1484T>C (p.Met495Thr) c.*1360T>C (n.*1360T>C) c.1436T>C (p.Met479Thr) n.1698T>C c.1601T>C (p.Met534Thr) c.1430T>C (p.Met477Thr) c.1427T>C (p.Met476Thr) c.1577T>C (p.Met526Thr) c.1376T>C (p.Met459Thr) | |
10 | g.69382693T>G | CA376910008 | HK1 | c.1472T>G (p.Met491Arg) c.1388T>G (p.Met463Arg) c.1265+2598T>G (n.1265+2598T>G) c.1082T>G (p.Met361Arg) c.*1089T>G (n.*1089T>G) c.*735T>G (n.*735T>G) c.1352T>G (p.Met451Arg) n.2022T>G c.1469T>G (p.Met490Arg) c.1484T>G (p.Met495Arg) c.*1360T>G (n.*1360T>G) c.1436T>G (p.Met479Arg) n.1698T>G c.1601T>G (p.Met534Arg) c.1430T>G (p.Met477Arg) c.1427T>G (p.Met476Arg) c.1577T>G (p.Met526Arg) c.1376T>G (p.Met459Arg) | |
10 | g.69382694G>A | CA376910013 | HK1 | c.1473G>A (p.Met491Ile) c.1389G>A (p.Met463Ile) c.1265+2599G>A (n.1265+2599G>A) c.1083G>A (p.Met361Ile) c.*1090G>A (n.*1090G>A) c.*736G>A (n.*736G>A) c.1353G>A (p.Met451Ile) n.2023G>A c.1470G>A (p.Met490Ile) c.1485G>A (p.Met495Ile) c.*1361G>A (n.*1361G>A) c.1437G>A (p.Met479Ile) n.1699G>A c.1602G>A (p.Met534Ile) c.1431G>A (p.Met477Ile) c.1428G>A (p.Met476Ile) c.1578G>A (p.Met526Ile) c.1377G>A (p.Met459Ile) | |
10 | g.69382694G>C | CA376910011 | HK1 | c.1473G>C (p.Met491Ile) c.1389G>C (p.Met463Ile) c.1265+2599G>C (n.1265+2599G>C) c.1083G>C (p.Met361Ile) c.*1090G>C (n.*1090G>C) c.*736G>C (n.*736G>C) c.1353G>C (p.Met451Ile) n.2023G>C c.1470G>C (p.Met490Ile) c.1485G>C (p.Met495Ile) c.*1361G>C (n.*1361G>C) c.1437G>C (p.Met479Ile) n.1699G>C c.1602G>C (p.Met534Ile) c.1431G>C (p.Met477Ile) c.1428G>C (p.Met476Ile) c.1578G>C (p.Met526Ile) c.1377G>C (p.Met459Ile) | |
10 | g.69382694G>T | CA376910012 | HK1 | c.1473G>T (p.Met491Ile) c.1389G>T (p.Met463Ile) c.1265+2599G>T (n.1265+2599G>T) c.1083G>T (p.Met361Ile) c.*1090G>T (n.*1090G>T) c.*736G>T (n.*736G>T) c.1353G>T (p.Met451Ile) n.2023G>T c.1470G>T (p.Met490Ile) c.1485G>T (p.Met495Ile) c.*1361G>T (n.*1361G>T) c.1437G>T (p.Met479Ile) n.1699G>T c.1602G>T (p.Met534Ile) c.1431G>T (p.Met477Ile) c.1428G>T (p.Met476Ile) c.1578G>T (p.Met526Ile) c.1377G>T (p.Met459Ile) | gnomAD v4 |
10 | g.69382695C>A | CA470276502 | HK1 | c.1474C>A (p.Arg492=) c.1390C>A (p.Arg464=) c.1265+2600C>A (n.1265+2600C>A) c.1084C>A (p.Arg362=) c.*1091C>A (n.*1091C>A) c.*737C>A (n.*737C>A) c.1354C>A (p.Arg452=) n.2024C>A c.1471C>A (p.Arg491=) c.1486C>A (p.Arg496=) c.*1362C>A (n.*1362C>A) c.1438C>A (p.Arg480=) n.1700C>A c.1603C>A (p.Arg535=) c.1432C>A (p.Arg478=) c.1429C>A (p.Arg477=) c.1579C>A (p.Arg527=) c.1378C>A (p.Arg460=) | gnomAD v4 |
10 | g.69382695C= | CA1917772236 | HK1 | c.1474C= (p.Arg492=) c.1390C= (p.Arg464=) c.1265+2600C= (n.1265+2600C=) c.1084C= (p.Arg362=) c.*1091C= (n.*1091C=) c.*737C= (n.*737C=) c.1354C= (p.Arg452=) n.2024C= c.1471C= (p.Arg491=) c.1486C= (p.Arg496=) c.*1362C= (n.*1362C=) c.1438C= (p.Arg480=) n.1700C= c.1603C= (p.Arg535=) c.1432C= (p.Arg478=) c.1429C= (p.Arg477=) c.1579C= (p.Arg527=) c.1378C= (p.Arg460=) | |
10 | g.69382695C>G | CA376910014 | HK1 | c.1474C>G (p.Arg492Gly) c.1390C>G (p.Arg464Gly) c.1265+2600C>G (n.1265+2600C>G) c.1084C>G (p.Arg362Gly) c.*1091C>G (n.*1091C>G) c.*737C>G (n.*737C>G) c.1354C>G (p.Arg452Gly) n.2024C>G c.1471C>G (p.Arg491Gly) c.1486C>G (p.Arg496Gly) c.*1362C>G (n.*1362C>G) c.1438C>G (p.Arg480Gly) n.1700C>G c.1603C>G (p.Arg535Gly) c.1432C>G (p.Arg478Gly) c.1429C>G (p.Arg477Gly) c.1579C>G (p.Arg527Gly) c.1378C>G (p.Arg460Gly) | |
10 | g.69382695C>T | CA5532606 | HK1 | c.1474C>T (p.Arg492Trp) c.1390C>T (p.Arg464Trp) c.1265+2600C>T (n.1265+2600C>T) c.1084C>T (p.Arg362Trp) c.*1091C>T (n.*1091C>T) c.*737C>T (n.*737C>T) c.1354C>T (p.Arg452Trp) n.2024C>T c.1471C>T (p.Arg491Trp) c.1486C>T (p.Arg496Trp) c.*1362C>T (n.*1362C>T) c.1438C>T (p.Arg480Trp) n.1700C>T c.1603C>T (p.Arg535Trp) c.1432C>T (p.Arg478Trp) c.1429C>T (p.Arg477Trp) c.1579C>T (p.Arg527Trp) c.1378C>T (p.Arg460Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382696G>A | CA5532607 | HK1 | c.1475G>A (p.Arg492Gln) c.1391G>A (p.Arg464Gln) c.1265+2601G>A (n.1265+2601G>A) c.1085G>A (p.Arg362Gln) c.*1092G>A (n.*1092G>A) c.*738G>A (n.*738G>A) c.1355G>A (p.Arg452Gln) n.2025G>A c.1472G>A (p.Arg491Gln) c.1487G>A (p.Arg496Gln) c.*1363G>A (n.*1363G>A) c.1439G>A (p.Arg480Gln) n.1701G>A c.1604G>A (p.Arg535Gln) c.1433G>A (p.Arg478Gln) c.1430G>A (p.Arg477Gln) c.1580G>A (p.Arg527Gln) c.1379G>A (p.Arg460Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
10 | g.69382696G>C | CA5532608 | HK1 | c.1475G>C (p.Arg492Pro) c.1391G>C (p.Arg464Pro) c.1265+2601G>C (n.1265+2601G>C) c.1085G>C (p.Arg362Pro) c.*1092G>C (n.*1092G>C) c.*738G>C (n.*738G>C) c.1355G>C (p.Arg452Pro) n.2025G>C c.1472G>C (p.Arg491Pro) c.1487G>C (p.Arg496Pro) c.*1363G>C (n.*1363G>C) c.1439G>C (p.Arg480Pro) n.1701G>C c.1604G>C (p.Arg535Pro) c.1433G>C (p.Arg478Pro) c.1430G>C (p.Arg477Pro) c.1580G>C (p.Arg527Pro) c.1379G>C (p.Arg460Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.69382696G= | CA1917772241 | HK1 | c.1475G= (p.Arg492=) c.1391G= (p.Arg464=) c.1265+2601G= (n.1265+2601G=) c.1085G= (p.Arg362=) c.*1092G= (n.*1092G=) c.*738G= (n.*738G=) c.1355G= (p.Arg452=) n.2025G= c.1472G= (p.Arg491=) c.1487G= (p.Arg496=) c.*1363G= (n.*1363G=) c.1439G= (p.Arg480=) n.1701G= c.1604G= (p.Arg535=) c.1433G= (p.Arg478=) c.1430G= (p.Arg477=) c.1580G= (p.Arg527=) c.1379G= (p.Arg460=) | |
10 | g.69382696G>T | CA376910015 | HK1 | c.1475G>T (p.Arg492Leu) c.1391G>T (p.Arg464Leu) c.1265+2601G>T (n.1265+2601G>T) c.1085G>T (p.Arg362Leu) c.*1092G>T (n.*1092G>T) c.*738G>T (n.*738G>T) c.1355G>T (p.Arg452Leu) n.2025G>T c.1472G>T (p.Arg491Leu) c.1487G>T (p.Arg496Leu) c.*1363G>T (n.*1363G>T) c.1439G>T (p.Arg480Leu) n.1701G>T c.1604G>T (p.Arg535Leu) c.1433G>T (p.Arg478Leu) c.1430G>T (p.Arg477Leu) c.1580G>T (p.Arg527Leu) c.1379G>T (p.Arg460Leu) | |
10 | g.69382697G>A | CA470276510 | HK1 | c.1476G>A (p.Arg492=) c.1392G>A (p.Arg464=) c.1265+2602G>A (n.1265+2602G>A) c.1086G>A (p.Arg362=) c.*1093G>A (n.*1093G>A) c.*739G>A (n.*739G>A) c.1356G>A (p.Arg452=) n.2026G>A c.1473G>A (p.Arg491=) c.1488G>A (p.Arg496=) c.*1364G>A (n.*1364G>A) c.1440G>A (p.Arg480=) n.1702G>A c.1605G>A (p.Arg535=) c.1434G>A (p.Arg478=) c.1431G>A (p.Arg477=) c.1581G>A (p.Arg527=) c.1380G>A (p.Arg460=) | dbSNP |
10 | g.69382697G>C | CA470276511 | HK1 | c.1476G>C (p.Arg492=) c.1392G>C (p.Arg464=) c.1265+2602G>C (n.1265+2602G>C) c.1086G>C (p.Arg362=) c.*1093G>C (n.*1093G>C) c.*739G>C (n.*739G>C) c.1356G>C (p.Arg452=) n.2026G>C c.1473G>C (p.Arg491=) c.1488G>C (p.Arg496=) c.*1364G>C (n.*1364G>C) c.1440G>C (p.Arg480=) n.1702G>C c.1605G>C (p.Arg535=) c.1434G>C (p.Arg478=) c.1431G>C (p.Arg477=) c.1581G>C (p.Arg527=) c.1380G>C (p.Arg460=) | |
10 | g.69382697G= | CA1917772245 | HK1 | c.1476G= (p.Arg492=) c.1392G= (p.Arg464=) c.1265+2602G= (n.1265+2602G=) c.1086G= (p.Arg362=) c.*1093G= (n.*1093G=) c.*739G= (n.*739G=) c.1356G= (p.Arg452=) n.2026G= c.1473G= (p.Arg491=) c.1488G= (p.Arg496=) c.*1364G= (n.*1364G=) c.1440G= (p.Arg480=) n.1702G= c.1605G= (p.Arg535=) c.1434G= (p.Arg478=) c.1431G= (p.Arg477=) c.1581G= (p.Arg527=) c.1380G= (p.Arg460=) | |
10 | g.69382697G>T | CA470276512 | HK1 | c.1476G>T (p.Arg492=) c.1392G>T (p.Arg464=) c.1265+2602G>T (n.1265+2602G>T) c.1086G>T (p.Arg362=) c.*1093G>T (n.*1093G>T) c.*739G>T (n.*739G>T) c.1356G>T (p.Arg452=) n.2026G>T c.1473G>T (p.Arg491=) c.1488G>T (p.Arg496=) c.*1364G>T (n.*1364G>T) c.1440G>T (p.Arg480=) n.1702G>T c.1605G>T (p.Arg535=) c.1434G>T (p.Arg478=) c.1431G>T (p.Arg477=) c.1581G>T (p.Arg527=) c.1380G>T (p.Arg460=) | |
10 | g.69382698G>A | CA376910016 | HK1 | c.1477G>A (p.Ala493Thr) c.1393G>A (p.Ala465Thr) c.1265+2603G>A (n.1265+2603G>A) c.1087G>A (p.Ala363Thr) c.*1094G>A (n.*1094G>A) c.*740G>A (n.*740G>A) c.1357G>A (p.Ala453Thr) n.2027G>A c.1474G>A (p.Ala492Thr) c.1489G>A (p.Ala497Thr) c.*1365G>A (n.*1365G>A) c.1441G>A (p.Ala481Thr) n.1703G>A c.1606G>A (p.Ala536Thr) c.1435G>A (p.Ala479Thr) c.1432G>A (p.Ala478Thr) c.1582G>A (p.Ala528Thr) c.1381G>A (p.Ala461Thr) | |
10 | g.69382698G>C | CA376910018 | HK1 | c.1477G>C (p.Ala493Pro) c.1393G>C (p.Ala465Pro) c.1265+2603G>C (n.1265+2603G>C) c.1087G>C (p.Ala363Pro) c.*1094G>C (n.*1094G>C) c.*740G>C (n.*740G>C) c.1357G>C (p.Ala453Pro) n.2027G>C c.1474G>C (p.Ala492Pro) c.1489G>C (p.Ala497Pro) c.*1365G>C (n.*1365G>C) c.1441G>C (p.Ala481Pro) n.1703G>C c.1606G>C (p.Ala536Pro) c.1435G>C (p.Ala479Pro) c.1432G>C (p.Ala478Pro) c.1582G>C (p.Ala528Pro) c.1381G>C (p.Ala461Pro) | |
10 | g.69382698G>T | CA376910017 | HK1 | c.1477G>T (p.Ala493Ser) c.1393G>T (p.Ala465Ser) c.1265+2603G>T (n.1265+2603G>T) c.1087G>T (p.Ala363Ser) c.*1094G>T (n.*1094G>T) c.*740G>T (n.*740G>T) c.1357G>T (p.Ala453Ser) n.2027G>T c.1474G>T (p.Ala492Ser) c.1489G>T (p.Ala497Ser) c.*1365G>T (n.*1365G>T) c.1441G>T (p.Ala481Ser) n.1703G>T c.1606G>T (p.Ala536Ser) c.1435G>T (p.Ala479Ser) c.1432G>T (p.Ala478Ser) c.1582G>T (p.Ala528Ser) c.1381G>T (p.Ala461Ser) | gnomAD v4 |
10 | g.69382699C>A | CA376910019 | HK1 | c.1478C>A (p.Ala493Asp) c.1394C>A (p.Ala465Asp) c.1265+2604C>A (n.1265+2604C>A) c.1088C>A (p.Ala363Asp) c.*1095C>A (n.*1095C>A) c.*741C>A (n.*741C>A) c.1358C>A (p.Ala453Asp) n.2028C>A c.1475C>A (p.Ala492Asp) c.1490C>A (p.Ala497Asp) c.*1366C>A (n.*1366C>A) c.1442C>A (p.Ala481Asp) n.1704C>A c.1607C>A (p.Ala536Asp) c.1436C>A (p.Ala479Asp) c.1433C>A (p.Ala478Asp) c.1583C>A (p.Ala528Asp) c.1382C>A (p.Ala461Asp) | |
10 | g.69382699C>G | CA376910020 | HK1 | c.1478C>G (p.Ala493Gly) c.1394C>G (p.Ala465Gly) c.1265+2604C>G (n.1265+2604C>G) c.1088C>G (p.Ala363Gly) c.*1095C>G (n.*1095C>G) c.*741C>G (n.*741C>G) c.1358C>G (p.Ala453Gly) n.2028C>G c.1475C>G (p.Ala492Gly) c.1490C>G (p.Ala497Gly) c.*1366C>G (n.*1366C>G) c.1442C>G (p.Ala481Gly) n.1704C>G c.1607C>G (p.Ala536Gly) c.1436C>G (p.Ala479Gly) c.1433C>G (p.Ala478Gly) c.1583C>G (p.Ala528Gly) c.1382C>G (p.Ala461Gly) | |
10 | g.69382699C>T | CA376910021 | HK1 | c.1478C>T (p.Ala493Val) c.1394C>T (p.Ala465Val) c.1265+2604C>T (n.1265+2604C>T) c.1088C>T (p.Ala363Val) c.*1095C>T (n.*1095C>T) c.*741C>T (n.*741C>T) c.1358C>T (p.Ala453Val) n.2028C>T c.1475C>T (p.Ala492Val) c.1490C>T (p.Ala497Val) c.*1366C>T (n.*1366C>T) c.1442C>T (p.Ala481Val) n.1704C>T c.1607C>T (p.Ala536Val) c.1436C>T (p.Ala479Val) c.1433C>T (p.Ala478Val) c.1583C>T (p.Ala528Val) c.1382C>T (p.Ala461Val) | gnomAD v4 |
10 | g.69382700dup | CA2842980644 | HK1 | c.1479dup (p.Glu494ArgfsTer17) c.1395dup (p.Glu466ArgfsTer17) c.1265+2605dup (n.1265+2605dup) c.1089dup (p.Glu364ArgfsTer17) c.*1096dup (n.*1096dup) c.*742dup (n.*742dup) c.1359dup (p.Glu454ArgfsTer17) n.2029dup c.1476dup (p.Glu493ArgfsTer17) c.1491dup (p.Glu498ArgfsTer17) c.*1367dup (n.*1367dup) c.1443dup (p.Glu482ArgfsTer17) n.1705dup c.1608dup (p.Glu537ArgfsTer17) c.1437dup (p.Glu480ArgfsTer17) c.1434dup (p.Glu479ArgfsTer17) c.1584dup (p.Glu529ArgfsTer17) c.1383dup (p.Glu462ArgfsTer17) | |
10 | g.69382700C>A | CA470276523 | HK1 | c.1479C>A (p.Ala493=) c.1395C>A (p.Ala465=) c.1265+2605C>A (n.1265+2605C>A) c.1089C>A (p.Ala363=) c.*1096C>A (n.*1096C>A) c.*742C>A (n.*742C>A) c.1359C>A (p.Ala453=) n.2029C>A c.1476C>A (p.Ala492=) c.1491C>A (p.Ala497=) c.*1367C>A (n.*1367C>A) c.1443C>A (p.Ala481=) n.1705C>A c.1608C>A (p.Ala536=) c.1437C>A (p.Ala479=) c.1434C>A (p.Ala478=) c.1584C>A (p.Ala528=) c.1383C>A (p.Ala461=) | gnomAD v3 gnomAD v4 |
10 | g.69382700C= | CA1917772250 | HK1 | c.1479C= (p.Ala493=) c.1395C= (p.Ala465=) c.1265+2605C= (n.1265+2605C=) c.1089C= (p.Ala363=) c.*1096C= (n.*1096C=) c.*742C= (n.*742C=) c.1359C= (p.Ala453=) n.2029C= c.1476C= (p.Ala492=) c.1491C= (p.Ala497=) c.*1367C= (n.*1367C=) c.1443C= (p.Ala481=) n.1705C= c.1608C= (p.Ala536=) c.1437C= (p.Ala479=) c.1434C= (p.Ala478=) c.1584C= (p.Ala528=) c.1383C= (p.Ala461=) | |
10 | g.69382700C>G | CA470276524 | HK1 | c.1479C>G (p.Ala493=) c.1395C>G (p.Ala465=) c.1265+2605C>G (n.1265+2605C>G) c.1089C>G (p.Ala363=) c.*1096C>G (n.*1096C>G) c.*742C>G (n.*742C>G) c.1359C>G (p.Ala453=) n.2029C>G c.1476C>G (p.Ala492=) c.1491C>G (p.Ala497=) c.*1367C>G (n.*1367C>G) c.1443C>G (p.Ala481=) n.1705C>G c.1608C>G (p.Ala536=) c.1437C>G (p.Ala479=) c.1434C>G (p.Ala478=) c.1584C>G (p.Ala528=) c.1383C>G (p.Ala461=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382700C>T | CA5532609 | HK1 | c.1479C>T (p.Ala493=) c.1395C>T (p.Ala465=) c.1265+2605C>T (n.1265+2605C>T) c.1089C>T (p.Ala363=) c.*1096C>T (n.*1096C>T) c.*742C>T (n.*742C>T) c.1359C>T (p.Ala453=) n.2029C>T c.1476C>T (p.Ala492=) c.1491C>T (p.Ala497=) c.*1367C>T (n.*1367C>T) c.1443C>T (p.Ala481=) n.1705C>T c.1608C>T (p.Ala536=) c.1437C>T (p.Ala479=) c.1434C>T (p.Ala478=) c.1584C>T (p.Ala528=) c.1383C>T (p.Ala461=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382701G>A | CA376910022 | HK1 | c.1480G>A (p.Glu494Lys) c.1396G>A (p.Glu466Lys) c.1265+2606G>A (n.1265+2606G>A) c.1090G>A (p.Glu364Lys) c.*1097G>A (n.*1097G>A) c.*743G>A (n.*743G>A) c.1360G>A (p.Glu454Lys) n.2030G>A c.1477G>A (p.Glu493Lys) c.1492G>A (p.Glu498Lys) c.*1368G>A (n.*1368G>A) c.1444G>A (p.Glu482Lys) n.1706G>A c.1609G>A (p.Glu537Lys) c.1438G>A (p.Glu480Lys) c.1435G>A (p.Glu479Lys) c.1585G>A (p.Glu529Lys) c.1384G>A (p.Glu462Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.69382701G>C | CA376910024 | HK1 | c.1480G>C (p.Glu494Gln) c.1396G>C (p.Glu466Gln) c.1265+2606G>C (n.1265+2606G>C) c.1090G>C (p.Glu364Gln) c.*1097G>C (n.*1097G>C) c.*743G>C (n.*743G>C) c.1360G>C (p.Glu454Gln) n.2030G>C c.1477G>C (p.Glu493Gln) c.1492G>C (p.Glu498Gln) c.*1368G>C (n.*1368G>C) c.1444G>C (p.Glu482Gln) n.1706G>C c.1609G>C (p.Glu537Gln) c.1438G>C (p.Glu480Gln) c.1435G>C (p.Glu479Gln) c.1585G>C (p.Glu529Gln) c.1384G>C (p.Glu462Gln) | |
10 | g.69382701G= | CA1917772255 | HK1 | c.1480G= (p.Glu494=) c.1396G= (p.Glu466=) c.1265+2606G= (n.1265+2606G=) c.1090G= (p.Glu364=) c.*1097G= (n.*1097G=) c.*743G= (n.*743G=) c.1360G= (p.Glu454=) n.2030G= c.1477G= (p.Glu493=) c.1492G= (p.Glu498=) c.*1368G= (n.*1368G=) c.1444G= (p.Glu482=) n.1706G= c.1609G= (p.Glu537=) c.1438G= (p.Glu480=) c.1435G= (p.Glu479=) c.1585G= (p.Glu529=) c.1384G= (p.Glu462=) | |
10 | g.69382701G>T | CA376910023 | HK1 | c.1480G>T (p.Glu494Ter) c.1396G>T (p.Glu466Ter) c.1265+2606G>T (n.1265+2606G>T) c.1090G>T (p.Glu364Ter) c.*1097G>T (n.*1097G>T) c.*743G>T (n.*743G>T) c.1360G>T (p.Glu454Ter) n.2030G>T c.1477G>T (p.Glu493Ter) c.1492G>T (p.Glu498Ter) c.*1368G>T (n.*1368G>T) c.1444G>T (p.Glu482Ter) n.1706G>T c.1609G>T (p.Glu537Ter) c.1438G>T (p.Glu480Ter) c.1435G>T (p.Glu479Ter) c.1585G>T (p.Glu529Ter) c.1384G>T (p.Glu462Ter) | |
10 | g.69382702A>C | CA376910025 | HK1 | c.1481A>C (p.Glu494Ala) c.1397A>C (p.Glu466Ala) c.1265+2607A>C (n.1265+2607A>C) c.1091A>C (p.Glu364Ala) c.*1098A>C (n.*1098A>C) c.*744A>C (n.*744A>C) c.1361A>C (p.Glu454Ala) n.2031A>C c.1478A>C (p.Glu493Ala) c.1493A>C (p.Glu498Ala) c.*1369A>C (n.*1369A>C) c.1445A>C (p.Glu482Ala) n.1707A>C c.1610A>C (p.Glu537Ala) c.1439A>C (p.Glu480Ala) c.1436A>C (p.Glu479Ala) c.1586A>C (p.Glu529Ala) c.1385A>C (p.Glu462Ala) | |
10 | g.69382702A>G | CA376910026 | HK1 | c.1481A>G (p.Glu494Gly) c.1397A>G (p.Glu466Gly) c.1265+2607A>G (n.1265+2607A>G) c.1091A>G (p.Glu364Gly) c.*1098A>G (n.*1098A>G) c.*744A>G (n.*744A>G) c.1361A>G (p.Glu454Gly) n.2031A>G c.1478A>G (p.Glu493Gly) c.1493A>G (p.Glu498Gly) c.*1369A>G (n.*1369A>G) c.1445A>G (p.Glu482Gly) n.1707A>G c.1610A>G (p.Glu537Gly) c.1439A>G (p.Glu480Gly) c.1436A>G (p.Glu479Gly) c.1586A>G (p.Glu529Gly) c.1385A>G (p.Glu462Gly) | |
10 | g.69382702A>T | CA376910027 | HK1 | c.1481A>T (p.Glu494Val) c.1397A>T (p.Glu466Val) c.1265+2607A>T (n.1265+2607A>T) c.1091A>T (p.Glu364Val) c.*1098A>T (n.*1098A>T) c.*744A>T (n.*744A>T) c.1361A>T (p.Glu454Val) n.2031A>T c.1478A>T (p.Glu493Val) c.1493A>T (p.Glu498Val) c.*1369A>T (n.*1369A>T) c.1445A>T (p.Glu482Val) n.1707A>T c.1610A>T (p.Glu537Val) c.1439A>T (p.Glu480Val) c.1436A>T (p.Glu479Val) c.1586A>T (p.Glu529Val) c.1385A>T (p.Glu462Val) | |
10 | g.69382703G>A | CA470276533 | HK1 | c.1482G>A (p.Glu494=) c.1398G>A (p.Glu466=) c.1265+2608G>A (n.1265+2608G>A) c.1092G>A (p.Glu364=) c.*1099G>A (n.*1099G>A) c.*745G>A (n.*745G>A) c.1362G>A (p.Glu454=) n.2032G>A c.1479G>A (p.Glu493=) c.1494G>A (p.Glu498=) c.*1370G>A (n.*1370G>A) c.1446G>A (p.Glu482=) n.1708G>A c.1611G>A (p.Glu537=) c.1440G>A (p.Glu480=) c.1437G>A (p.Glu479=) c.1587G>A (p.Glu529=) c.1386G>A (p.Glu462=) | |
10 | g.69382703G>C | CA376910028 | HK1 | c.1482G>C (p.Glu494Asp) c.1398G>C (p.Glu466Asp) c.1265+2608G>C (n.1265+2608G>C) c.1092G>C (p.Glu364Asp) c.*1099G>C (n.*1099G>C) c.*745G>C (n.*745G>C) c.1362G>C (p.Glu454Asp) n.2032G>C c.1479G>C (p.Glu493Asp) c.1494G>C (p.Glu498Asp) c.*1370G>C (n.*1370G>C) c.1446G>C (p.Glu482Asp) n.1708G>C c.1611G>C (p.Glu537Asp) c.1440G>C (p.Glu480Asp) c.1437G>C (p.Glu479Asp) c.1587G>C (p.Glu529Asp) c.1386G>C (p.Glu462Asp) | |
10 | g.69382703G>T | CA376910029 | HK1 | c.1482G>T (p.Glu494Asp) c.1398G>T (p.Glu466Asp) c.1265+2608G>T (n.1265+2608G>T) c.1092G>T (p.Glu364Asp) c.*1099G>T (n.*1099G>T) c.*745G>T (n.*745G>T) c.1362G>T (p.Glu454Asp) n.2032G>T c.1479G>T (p.Glu493Asp) c.1494G>T (p.Glu498Asp) c.*1370G>T (n.*1370G>T) c.1446G>T (p.Glu482Asp) n.1708G>T c.1611G>T (p.Glu537Asp) c.1440G>T (p.Glu480Asp) c.1437G>T (p.Glu479Asp) c.1587G>T (p.Glu529Asp) c.1386G>T (p.Glu462Asp) | |
10 | g.69382704A= | CA1917772257 | HK1 | c.1483A= (p.Met495=) c.1399A= (p.Met467=) c.1265+2609A= (n.1265+2609A=) c.1093A= (p.Met365=) c.*1100A= (n.*1100A=) c.*746A= (n.*746A=) c.1363A= (p.Met455=) n.2033A= c.1480A= (p.Met494=) c.1495A= (p.Met499=) c.*1371A= (n.*1371A=) c.1447A= (p.Met483=) n.1709A= c.1612A= (p.Met538=) c.1441A= (p.Met481=) c.1438A= (p.Met480=) c.1588A= (p.Met530=) c.1387A= (p.Met463=) | |
10 | g.69382704A>C | CA376910030 | HK1 | c.1483A>C (p.Met495Leu) c.1399A>C (p.Met467Leu) c.1265+2609A>C (n.1265+2609A>C) c.1093A>C (p.Met365Leu) c.*1100A>C (n.*1100A>C) c.*746A>C (n.*746A>C) c.1363A>C (p.Met455Leu) n.2033A>C c.1480A>C (p.Met494Leu) c.1495A>C (p.Met499Leu) c.*1371A>C (n.*1371A>C) c.1447A>C (p.Met483Leu) n.1709A>C c.1612A>C (p.Met538Leu) c.1441A>C (p.Met481Leu) c.1438A>C (p.Met480Leu) c.1588A>C (p.Met530Leu) c.1387A>C (p.Met463Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.69382704A>G | CA376910031 | HK1 | c.1483A>G (p.Met495Val) c.1399A>G (p.Met467Val) c.1265+2609A>G (n.1265+2609A>G) c.1093A>G (p.Met365Val) c.*1100A>G (n.*1100A>G) c.*746A>G (n.*746A>G) c.1363A>G (p.Met455Val) n.2033A>G c.1480A>G (p.Met494Val) c.1495A>G (p.Met499Val) c.*1371A>G (n.*1371A>G) c.1447A>G (p.Met483Val) n.1709A>G c.1612A>G (p.Met538Val) c.1441A>G (p.Met481Val) c.1438A>G (p.Met480Val) c.1588A>G (p.Met530Val) c.1387A>G (p.Met463Val) | dbSNP |
10 | g.69382704A>T | CA376910032 | HK1 | c.1483A>T (p.Met495Leu) c.1399A>T (p.Met467Leu) c.1265+2609A>T (n.1265+2609A>T) c.1093A>T (p.Met365Leu) c.*1100A>T (n.*1100A>T) c.*746A>T (n.*746A>T) c.1363A>T (p.Met455Leu) n.2033A>T c.1480A>T (p.Met494Leu) c.1495A>T (p.Met499Leu) c.*1371A>T (n.*1371A>T) c.1447A>T (p.Met483Leu) n.1709A>T c.1612A>T (p.Met538Leu) c.1441A>T (p.Met481Leu) c.1438A>T (p.Met480Leu) c.1588A>T (p.Met530Leu) c.1387A>T (p.Met463Leu) | |
10 | g.69382705T>A | CA376910033 | HK1 | c.1484T>A (p.Met495Lys) c.1400T>A (p.Met467Lys) c.1265+2610T>A (n.1265+2610T>A) c.1094T>A (p.Met365Lys) c.*1101T>A (n.*1101T>A) c.*747T>A (n.*747T>A) c.1364T>A (p.Met455Lys) n.2034T>A c.1481T>A (p.Met494Lys) c.1496T>A (p.Met499Lys) c.*1372T>A (n.*1372T>A) c.1448T>A (p.Met483Lys) n.1710T>A c.1613T>A (p.Met538Lys) c.1442T>A (p.Met481Lys) c.1439T>A (p.Met480Lys) c.1589T>A (p.Met530Lys) c.1388T>A (p.Met463Lys) | |
10 | g.69382705T>C | CA376910034 | HK1 | c.1484T>C (p.Met495Thr) c.1400T>C (p.Met467Thr) c.1265+2610T>C (n.1265+2610T>C) c.1094T>C (p.Met365Thr) c.*1101T>C (n.*1101T>C) c.*747T>C (n.*747T>C) c.1364T>C (p.Met455Thr) n.2034T>C c.1481T>C (p.Met494Thr) c.1496T>C (p.Met499Thr) c.*1372T>C (n.*1372T>C) c.1448T>C (p.Met483Thr) n.1710T>C c.1613T>C (p.Met538Thr) c.1442T>C (p.Met481Thr) c.1439T>C (p.Met480Thr) c.1589T>C (p.Met530Thr) c.1388T>C (p.Met463Thr) | ClinVar |
10 | g.69382705T>G | CA376910035 | HK1 | c.1484T>G (p.Met495Arg) c.1400T>G (p.Met467Arg) c.1265+2610T>G (n.1265+2610T>G) c.1094T>G (p.Met365Arg) c.*1101T>G (n.*1101T>G) c.*747T>G (n.*747T>G) c.1364T>G (p.Met455Arg) n.2034T>G c.1481T>G (p.Met494Arg) c.1496T>G (p.Met499Arg) c.*1372T>G (n.*1372T>G) c.1448T>G (p.Met483Arg) n.1710T>G c.1613T>G (p.Met538Arg) c.1442T>G (p.Met481Arg) c.1439T>G (p.Met480Arg) c.1589T>G (p.Met530Arg) c.1388T>G (p.Met463Arg) | |
10 | g.69382706G>A | CA376910038 | HK1 | c.1485G>A (p.Met495Ile) c.1401G>A (p.Met467Ile) c.1265+2611G>A (n.1265+2611G>A) c.1095G>A (p.Met365Ile) c.*1102G>A (n.*1102G>A) c.*748G>A (n.*748G>A) c.1365G>A (p.Met455Ile) n.2035G>A c.1482G>A (p.Met494Ile) c.1497G>A (p.Met499Ile) c.*1373G>A (n.*1373G>A) c.1449G>A (p.Met483Ile) n.1711G>A c.1614G>A (p.Met538Ile) c.1443G>A (p.Met481Ile) c.1440G>A (p.Met480Ile) c.1590G>A (p.Met530Ile) c.1389G>A (p.Met463Ile) | |
10 | g.69382706G>C | CA376910037 | HK1 | c.1485G>C (p.Met495Ile) c.1401G>C (p.Met467Ile) c.1265+2611G>C (n.1265+2611G>C) c.1095G>C (p.Met365Ile) c.*1102G>C (n.*1102G>C) c.*748G>C (n.*748G>C) c.1365G>C (p.Met455Ile) n.2035G>C c.1482G>C (p.Met494Ile) c.1497G>C (p.Met499Ile) c.*1373G>C (n.*1373G>C) c.1449G>C (p.Met483Ile) n.1711G>C c.1614G>C (p.Met538Ile) c.1443G>C (p.Met481Ile) c.1440G>C (p.Met480Ile) c.1590G>C (p.Met530Ile) c.1389G>C (p.Met463Ile) | |
10 | g.69382706G>T | CA376910036 | HK1 | c.1485G>T (p.Met495Ile) c.1401G>T (p.Met467Ile) c.1265+2611G>T (n.1265+2611G>T) c.1095G>T (p.Met365Ile) c.*1102G>T (n.*1102G>T) c.*748G>T (n.*748G>T) c.1365G>T (p.Met455Ile) n.2035G>T c.1482G>T (p.Met494Ile) c.1497G>T (p.Met499Ile) c.*1373G>T (n.*1373G>T) c.1449G>T (p.Met483Ile) n.1711G>T c.1614G>T (p.Met538Ile) c.1443G>T (p.Met481Ile) c.1440G>T (p.Met480Ile) c.1590G>T (p.Met530Ile) c.1389G>T (p.Met463Ile) | |
10 | g.69382707G>A | CA376910039 | HK1 | c.1486G>A (p.Glu496Lys) c.1402G>A (p.Glu468Lys) c.1265+2612G>A (n.1265+2612G>A) c.1096G>A (p.Glu366Lys) c.*1103G>A (n.*1103G>A) c.*749G>A (n.*749G>A) c.1366G>A (p.Glu456Lys) n.2036G>A c.1483G>A (p.Glu495Lys) c.1498G>A (p.Glu500Lys) c.*1374G>A (n.*1374G>A) c.1450G>A (p.Glu484Lys) n.1712G>A c.1615G>A (p.Glu539Lys) c.1444G>A (p.Glu482Lys) c.1441G>A (p.Glu481Lys) c.1591G>A (p.Glu531Lys) c.1390G>A (p.Glu464Lys) | |
10 | g.69382707G>C | CA376910040 | HK1 | c.1486G>C (p.Glu496Gln) c.1402G>C (p.Glu468Gln) c.1265+2612G>C (n.1265+2612G>C) c.1096G>C (p.Glu366Gln) c.*1103G>C (n.*1103G>C) c.*749G>C (n.*749G>C) c.1366G>C (p.Glu456Gln) n.2036G>C c.1483G>C (p.Glu495Gln) c.1498G>C (p.Glu500Gln) c.*1374G>C (n.*1374G>C) c.1450G>C (p.Glu484Gln) n.1712G>C c.1615G>C (p.Glu539Gln) c.1444G>C (p.Glu482Gln) c.1441G>C (p.Glu481Gln) c.1591G>C (p.Glu531Gln) c.1390G>C (p.Glu464Gln) | |
10 | g.69382707G>T | CA376910041 | HK1 | c.1486G>T (p.Glu496Ter) c.1402G>T (p.Glu468Ter) c.1265+2612G>T (n.1265+2612G>T) c.1096G>T (p.Glu366Ter) c.*1103G>T (n.*1103G>T) c.*749G>T (n.*749G>T) c.1366G>T (p.Glu456Ter) n.2036G>T c.1483G>T (p.Glu495Ter) c.1498G>T (p.Glu500Ter) c.*1374G>T (n.*1374G>T) c.1450G>T (p.Glu484Ter) n.1712G>T c.1615G>T (p.Glu539Ter) c.1444G>T (p.Glu482Ter) c.1441G>T (p.Glu481Ter) c.1591G>T (p.Glu531Ter) c.1390G>T (p.Glu464Ter) | |
10 | g.69382708A>C | CA376910042 | HK1 | c.1487A>C (p.Glu496Ala) c.1403A>C (p.Glu468Ala) c.1265+2613A>C (n.1265+2613A>C) c.1097A>C (p.Glu366Ala) c.*1104A>C (n.*1104A>C) c.*750A>C (n.*750A>C) c.1367A>C (p.Glu456Ala) n.2037A>C c.1484A>C (p.Glu495Ala) c.1499A>C (p.Glu500Ala) c.*1375A>C (n.*1375A>C) c.1451A>C (p.Glu484Ala) n.1713A>C c.1616A>C (p.Glu539Ala) c.1445A>C (p.Glu482Ala) c.1442A>C (p.Glu481Ala) c.1592A>C (p.Glu531Ala) c.1391A>C (p.Glu464Ala) | ClinVar |
10 | g.69382708A>G | CA376910043 | HK1 | c.1487A>G (p.Glu496Gly) c.1403A>G (p.Glu468Gly) c.1265+2613A>G (n.1265+2613A>G) c.1097A>G (p.Glu366Gly) c.*1104A>G (n.*1104A>G) c.*750A>G (n.*750A>G) c.1367A>G (p.Glu456Gly) n.2037A>G c.1484A>G (p.Glu495Gly) c.1499A>G (p.Glu500Gly) c.*1375A>G (n.*1375A>G) c.1451A>G (p.Glu484Gly) n.1713A>G c.1616A>G (p.Glu539Gly) c.1445A>G (p.Glu482Gly) c.1442A>G (p.Glu481Gly) c.1592A>G (p.Glu531Gly) c.1391A>G (p.Glu464Gly) | |
10 | g.69382708A>T | CA376910044 | HK1 | c.1487A>T (p.Glu496Val) c.1403A>T (p.Glu468Val) c.1265+2613A>T (n.1265+2613A>T) c.1097A>T (p.Glu366Val) c.*1104A>T (n.*1104A>T) c.*750A>T (n.*750A>T) c.1367A>T (p.Glu456Val) n.2037A>T c.1484A>T (p.Glu495Val) c.1499A>T (p.Glu500Val) c.*1375A>T (n.*1375A>T) c.1451A>T (p.Glu484Val) n.1713A>T c.1616A>T (p.Glu539Val) c.1445A>T (p.Glu482Val) c.1442A>T (p.Glu481Val) c.1592A>T (p.Glu531Val) c.1391A>T (p.Glu464Val) | |
10 | g.69382709G>A | CA470276544 | HK1 | c.1488G>A (p.Glu496=) c.1404G>A (p.Glu468=) c.1265+2614G>A (n.1265+2614G>A) c.1098G>A (p.Glu366=) c.*1105G>A (n.*1105G>A) c.*751G>A (n.*751G>A) c.1368G>A (p.Glu456=) n.2038G>A c.1485G>A (p.Glu495=) c.1500G>A (p.Glu500=) c.*1376G>A (n.*1376G>A) c.1452G>A (p.Glu484=) n.1714G>A c.1617G>A (p.Glu539=) c.1446G>A (p.Glu482=) c.1443G>A (p.Glu481=) c.1593G>A (p.Glu531=) c.1392G>A (p.Glu464=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.69382709G>C | CA376910045 | HK1 | c.1488G>C (p.Glu496Asp) c.1404G>C (p.Glu468Asp) c.1265+2614G>C (n.1265+2614G>C) c.1098G>C (p.Glu366Asp) c.*1105G>C (n.*1105G>C) c.*751G>C (n.*751G>C) c.1368G>C (p.Glu456Asp) n.2038G>C c.1485G>C (p.Glu495Asp) c.1500G>C (p.Glu500Asp) c.*1376G>C (n.*1376G>C) c.1452G>C (p.Glu484Asp) n.1714G>C c.1617G>C (p.Glu539Asp) c.1446G>C (p.Glu482Asp) c.1443G>C (p.Glu481Asp) c.1593G>C (p.Glu531Asp) c.1392G>C (p.Glu464Asp) | |
10 | g.69382709G= | CA1917772260 | HK1 | c.1488G= (p.Glu496=) c.1404G= (p.Glu468=) c.1265+2614G= (n.1265+2614G=) c.1098G= (p.Glu366=) c.*1105G= (n.*1105G=) c.*751G= (n.*751G=) c.1368G= (p.Glu456=) n.2038G= c.1485G= (p.Glu495=) c.1500G= (p.Glu500=) c.*1376G= (n.*1376G=) c.1452G= (p.Glu484=) n.1714G= c.1617G= (p.Glu539=) c.1446G= (p.Glu482=) c.1443G= (p.Glu481=) c.1593G= (p.Glu531=) c.1392G= (p.Glu464=) | |
10 | g.69382709G>T | CA376910046 | HK1 | c.1488G>T (p.Glu496Asp) c.1404G>T (p.Glu468Asp) c.1265+2614G>T (n.1265+2614G>T) c.1098G>T (p.Glu366Asp) c.*1105G>T (n.*1105G>T) c.*751G>T (n.*751G>T) c.1368G>T (p.Glu456Asp) n.2038G>T c.1485G>T (p.Glu495Asp) c.1500G>T (p.Glu500Asp) c.*1376G>T (n.*1376G>T) c.1452G>T (p.Glu484Asp) n.1714G>T c.1617G>T (p.Glu539Asp) c.1446G>T (p.Glu482Asp) c.1443G>T (p.Glu481Asp) c.1593G>T (p.Glu531Asp) c.1392G>T (p.Glu464Asp) | |
10 | g.69382710C>A | CA376910047 | HK1 | c.1489C>A (p.Leu497Met) c.1405C>A (p.Leu469Met) c.1265+2615C>A (n.1265+2615C>A) c.1099C>A (p.Leu367Met) c.*1106C>A (n.*1106C>A) c.*752C>A (n.*752C>A) c.1369C>A (p.Leu457Met) n.2039C>A c.1486C>A (p.Leu496Met) c.1501C>A (p.Leu501Met) c.*1377C>A (n.*1377C>A) c.1453C>A (p.Leu485Met) n.1715C>A c.1618C>A (p.Leu540Met) c.1447C>A (p.Leu483Met) c.1444C>A (p.Leu482Met) c.1594C>A (p.Leu532Met) c.1393C>A (p.Leu465Met) | |
10 | g.69382710C= | CA1917772262 | HK1 | c.1489C= (p.Leu497=) c.1405C= (p.Leu469=) c.1265+2615C= (n.1265+2615C=) c.1099C= (p.Leu367=) c.*1106C= (n.*1106C=) c.*752C= (n.*752C=) c.1369C= (p.Leu457=) n.2039C= c.1486C= (p.Leu496=) c.1501C= (p.Leu501=) c.*1377C= (n.*1377C=) c.1453C= (p.Leu485=) n.1715C= c.1618C= (p.Leu540=) c.1447C= (p.Leu483=) c.1444C= (p.Leu482=) c.1594C= (p.Leu532=) c.1393C= (p.Leu465=) | |
10 | g.69382710C>G | CA376910048 | HK1 | c.1489C>G (p.Leu497Val) c.1405C>G (p.Leu469Val) c.1265+2615C>G (n.1265+2615C>G) c.1099C>G (p.Leu367Val) c.*1106C>G (n.*1106C>G) c.*752C>G (n.*752C>G) c.1369C>G (p.Leu457Val) n.2039C>G c.1486C>G (p.Leu496Val) c.1501C>G (p.Leu501Val) c.*1377C>G (n.*1377C>G) c.1453C>G (p.Leu485Val) n.1715C>G c.1618C>G (p.Leu540Val) c.1447C>G (p.Leu483Val) c.1444C>G (p.Leu482Val) c.1594C>G (p.Leu532Val) c.1393C>G (p.Leu465Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382710C>T | CA470276545 | HK1 | c.1489C>T (p.Leu497=) c.1405C>T (p.Leu469=) c.1265+2615C>T (n.1265+2615C>T) c.1099C>T (p.Leu367=) c.*1106C>T (n.*1106C>T) c.*752C>T (n.*752C>T) c.1369C>T (p.Leu457=) n.2039C>T c.1486C>T (p.Leu496=) c.1501C>T (p.Leu501=) c.*1377C>T (n.*1377C>T) c.1453C>T (p.Leu485=) n.1715C>T c.1618C>T (p.Leu540=) c.1447C>T (p.Leu483=) c.1444C>T (p.Leu482=) c.1594C>T (p.Leu532=) c.1393C>T (p.Leu465=) | |
10 | g.69382711T>A | CA376910050 | HK1 | c.1490T>A (p.Leu497Gln) c.1406T>A (p.Leu469Gln) c.1265+2616T>A (n.1265+2616T>A) c.1100T>A (p.Leu367Gln) c.*1107T>A (n.*1107T>A) c.*753T>A (n.*753T>A) c.1370T>A (p.Leu457Gln) n.2040T>A c.1487T>A (p.Leu496Gln) c.1502T>A (p.Leu501Gln) c.*1378T>A (n.*1378T>A) c.1454T>A (p.Leu485Gln) n.1716T>A c.1619T>A (p.Leu540Gln) c.1448T>A (p.Leu483Gln) c.1445T>A (p.Leu482Gln) c.1595T>A (p.Leu532Gln) c.1394T>A (p.Leu465Gln) | |
10 | g.69382711T>C | CA376910053 | HK1 | c.1490T>C (p.Leu497Pro) c.1406T>C (p.Leu469Pro) c.1265+2616T>C (n.1265+2616T>C) c.1100T>C (p.Leu367Pro) c.*1107T>C (n.*1107T>C) c.*753T>C (n.*753T>C) c.1370T>C (p.Leu457Pro) n.2040T>C c.1487T>C (p.Leu496Pro) c.1502T>C (p.Leu501Pro) c.*1378T>C (n.*1378T>C) c.1454T>C (p.Leu485Pro) n.1716T>C c.1619T>C (p.Leu540Pro) c.1448T>C (p.Leu483Pro) c.1445T>C (p.Leu482Pro) c.1595T>C (p.Leu532Pro) c.1394T>C (p.Leu465Pro) | |
10 | g.69382711T>G | CA376910054 | HK1 | c.1490T>G (p.Leu497Arg) c.1406T>G (p.Leu469Arg) c.1265+2616T>G (n.1265+2616T>G) c.1100T>G (p.Leu367Arg) c.*1107T>G (n.*1107T>G) c.*753T>G (n.*753T>G) c.1370T>G (p.Leu457Arg) n.2040T>G c.1487T>G (p.Leu496Arg) c.1502T>G (p.Leu501Arg) c.*1378T>G (n.*1378T>G) c.1454T>G (p.Leu485Arg) n.1716T>G c.1619T>G (p.Leu540Arg) c.1448T>G (p.Leu483Arg) c.1445T>G (p.Leu482Arg) c.1595T>G (p.Leu532Arg) c.1394T>G (p.Leu465Arg) | |
10 | g.69382712G>A | CA470276547 | HK1 | c.1491G>A (p.Leu497=) c.1407G>A (p.Leu469=) c.1265+2617G>A (n.1265+2617G>A) c.1101G>A (p.Leu367=) c.*1108G>A (n.*1108G>A) c.*754G>A (n.*754G>A) c.1371G>A (p.Leu457=) n.2041G>A c.1488G>A (p.Leu496=) c.1503G>A (p.Leu501=) c.*1379G>A (n.*1379G>A) c.1455G>A (p.Leu485=) n.1717G>A c.1620G>A (p.Leu540=) c.1449G>A (p.Leu483=) c.1446G>A (p.Leu482=) c.1596G>A (p.Leu532=) c.1395G>A (p.Leu465=) | gnomAD v4 |
10 | g.69382712G>C | CA470276548 | HK1 | c.1491G>C (p.Leu497=) c.1407G>C (p.Leu469=) c.1265+2617G>C (n.1265+2617G>C) c.1101G>C (p.Leu367=) c.*1108G>C (n.*1108G>C) c.*754G>C (n.*754G>C) c.1371G>C (p.Leu457=) n.2041G>C c.1488G>C (p.Leu496=) c.1503G>C (p.Leu501=) c.*1379G>C (n.*1379G>C) c.1455G>C (p.Leu485=) n.1717G>C c.1620G>C (p.Leu540=) c.1449G>C (p.Leu483=) c.1446G>C (p.Leu482=) c.1596G>C (p.Leu532=) c.1395G>C (p.Leu465=) | |
10 | g.69382712G>T | CA470276549 | HK1 | c.1491G>T (p.Leu497=) c.1407G>T (p.Leu469=) c.1265+2617G>T (n.1265+2617G>T) c.1101G>T (p.Leu367=) c.*1108G>T (n.*1108G>T) c.*754G>T (n.*754G>T) c.1371G>T (p.Leu457=) n.2041G>T c.1488G>T (p.Leu496=) c.1503G>T (p.Leu501=) c.*1379G>T (n.*1379G>T) c.1455G>T (p.Leu485=) n.1717G>T c.1620G>T (p.Leu540=) c.1449G>T (p.Leu483=) c.1446G>T (p.Leu482=) c.1596G>T (p.Leu532=) c.1395G>T (p.Leu465=) | |
10 | g.69382713G>A | CA376910062 | HK1 | c.1492G>A (p.Gly498Arg) c.1408G>A (p.Gly470Arg) c.1265+2618G>A (n.1265+2618G>A) c.1102G>A (p.Gly368Arg) c.*1109G>A (n.*1109G>A) c.*755G>A (n.*755G>A) c.1372G>A (p.Gly458Arg) n.2042G>A c.1489G>A (p.Gly497Arg) c.1504G>A (p.Gly502Arg) c.*1380G>A (n.*1380G>A) c.1456G>A (p.Gly486Arg) n.1718G>A c.1621G>A (p.Gly541Arg) c.1450G>A (p.Gly484Arg) c.1447G>A (p.Gly483Arg) c.1597G>A (p.Gly533Arg) c.1396G>A (p.Gly466Arg) | |
10 | g.69382713G>C | CA376910064 | HK1 | c.1492G>C (p.Gly498Arg) c.1408G>C (p.Gly470Arg) c.1265+2618G>C (n.1265+2618G>C) c.1102G>C (p.Gly368Arg) c.*1109G>C (n.*1109G>C) c.*755G>C (n.*755G>C) c.1372G>C (p.Gly458Arg) n.2042G>C c.1489G>C (p.Gly497Arg) c.1504G>C (p.Gly502Arg) c.*1380G>C (n.*1380G>C) c.1456G>C (p.Gly486Arg) n.1718G>C c.1621G>C (p.Gly541Arg) c.1450G>C (p.Gly484Arg) c.1447G>C (p.Gly483Arg) c.1597G>C (p.Gly533Arg) c.1396G>C (p.Gly466Arg) | |
10 | g.69382713G>T | CA376910057 | HK1 | c.1492G>T (p.Gly498Trp) c.1408G>T (p.Gly470Trp) c.1265+2618G>T (n.1265+2618G>T) c.1102G>T (p.Gly368Trp) c.*1109G>T (n.*1109G>T) c.*755G>T (n.*755G>T) c.1372G>T (p.Gly458Trp) n.2042G>T c.1489G>T (p.Gly497Trp) c.1504G>T (p.Gly502Trp) c.*1380G>T (n.*1380G>T) c.1456G>T (p.Gly486Trp) n.1718G>T c.1621G>T (p.Gly541Trp) c.1450G>T (p.Gly484Trp) c.1447G>T (p.Gly483Trp) c.1597G>T (p.Gly533Trp) c.1396G>T (p.Gly466Trp) | |
10 | g.69382714G>A | CA376910067 | HK1 | c.1493G>A (p.Gly498Glu) c.1409G>A (p.Gly470Glu) c.1265+2619G>A (n.1265+2619G>A) c.1103G>A (p.Gly368Glu) c.*1110G>A (n.*1110G>A) c.*756G>A (n.*756G>A) c.1373G>A (p.Gly458Glu) n.2043G>A c.1490G>A (p.Gly497Glu) c.1505G>A (p.Gly502Glu) c.*1381G>A (n.*1381G>A) c.1457G>A (p.Gly486Glu) n.1719G>A c.1622G>A (p.Gly541Glu) c.1451G>A (p.Gly484Glu) c.1448G>A (p.Gly483Glu) c.1598G>A (p.Gly533Glu) c.1397G>A (p.Gly466Glu) | |
10 | g.69382714G>C | CA376910069 | HK1 | c.1493G>C (p.Gly498Ala) c.1409G>C (p.Gly470Ala) c.1265+2619G>C (n.1265+2619G>C) c.1103G>C (p.Gly368Ala) c.*1110G>C (n.*1110G>C) c.*756G>C (n.*756G>C) c.1373G>C (p.Gly458Ala) n.2043G>C c.1490G>C (p.Gly497Ala) c.1505G>C (p.Gly502Ala) c.*1381G>C (n.*1381G>C) c.1457G>C (p.Gly486Ala) n.1719G>C c.1622G>C (p.Gly541Ala) c.1451G>C (p.Gly484Ala) c.1448G>C (p.Gly483Ala) c.1598G>C (p.Gly533Ala) c.1397G>C (p.Gly466Ala) | |
10 | g.69382714G>T | CA376910071 | HK1 | c.1493G>T (p.Gly498Val) c.1409G>T (p.Gly470Val) c.1265+2619G>T (n.1265+2619G>T) c.1103G>T (p.Gly368Val) c.*1110G>T (n.*1110G>T) c.*756G>T (n.*756G>T) c.1373G>T (p.Gly458Val) n.2043G>T c.1490G>T (p.Gly497Val) c.1505G>T (p.Gly502Val) c.*1381G>T (n.*1381G>T) c.1457G>T (p.Gly486Val) n.1719G>T c.1622G>T (p.Gly541Val) c.1451G>T (p.Gly484Val) c.1448G>T (p.Gly483Val) c.1598G>T (p.Gly533Val) c.1397G>T (p.Gly466Val) | |
10 | g.69382715G>A | CA470276553 | HK1 | c.1494G>A (p.Gly498=) c.1410G>A (p.Gly470=) c.1265+2620G>A (n.1265+2620G>A) c.1104G>A (p.Gly368=) c.*1111G>A (n.*1111G>A) c.*757G>A (n.*757G>A) c.1374G>A (p.Gly458=) n.2044G>A c.1491G>A (p.Gly497=) c.1506G>A (p.Gly502=) c.*1382G>A (n.*1382G>A) c.1458G>A (p.Gly486=) n.1720G>A c.1623G>A (p.Gly541=) c.1452G>A (p.Gly484=) c.1449G>A (p.Gly483=) c.1599G>A (p.Gly533=) c.1398G>A (p.Gly466=) | |
10 | g.69382715G>C | CA470276555 | HK1 | c.1494G>C (p.Gly498=) c.1410G>C (p.Gly470=) c.1265+2620G>C (n.1265+2620G>C) c.1104G>C (p.Gly368=) c.*1111G>C (n.*1111G>C) c.*757G>C (n.*757G>C) c.1374G>C (p.Gly458=) n.2044G>C c.1491G>C (p.Gly497=) c.1506G>C (p.Gly502=) c.*1382G>C (n.*1382G>C) c.1458G>C (p.Gly486=) n.1720G>C c.1623G>C (p.Gly541=) c.1452G>C (p.Gly484=) c.1449G>C (p.Gly483=) c.1599G>C (p.Gly533=) c.1398G>C (p.Gly466=) | gnomAD v4 |
10 | g.69382715G>T | CA470276558 | HK1 | c.1494G>T (p.Gly498=) c.1410G>T (p.Gly470=) c.1265+2620G>T (n.1265+2620G>T) c.1104G>T (p.Gly368=) c.*1111G>T (n.*1111G>T) c.*757G>T (n.*757G>T) c.1374G>T (p.Gly458=) n.2044G>T c.1491G>T (p.Gly497=) c.1506G>T (p.Gly502=) c.*1382G>T (n.*1382G>T) c.1458G>T (p.Gly486=) n.1720G>T c.1623G>T (p.Gly541=) c.1452G>T (p.Gly484=) c.1449G>T (p.Gly483=) c.1599G>T (p.Gly533=) c.1398G>T (p.Gly466=) | |
10 | g.69382716C>A | CA376910073 | HK1 | c.1495C>A (p.Leu499Met) c.1411C>A (p.Leu471Met) c.1265+2621C>A (n.1265+2621C>A) c.1105C>A (p.Leu369Met) c.*1112C>A (n.*1112C>A) c.*758C>A (n.*758C>A) c.1375C>A (p.Leu459Met) n.2045C>A c.1492C>A (p.Leu498Met) c.1507C>A (p.Leu503Met) c.*1383C>A (n.*1383C>A) c.1459C>A (p.Leu487Met) n.1721C>A c.1624C>A (p.Leu542Met) c.1453C>A (p.Leu485Met) c.1450C>A (p.Leu484Met) c.1600C>A (p.Leu534Met) c.1399C>A (p.Leu467Met) | |
10 | g.69382716C>G | CA376910075 | HK1 | c.1495C>G (p.Leu499Val) c.1411C>G (p.Leu471Val) c.1265+2621C>G (n.1265+2621C>G) c.1105C>G (p.Leu369Val) c.*1112C>G (n.*1112C>G) c.*758C>G (n.*758C>G) c.1375C>G (p.Leu459Val) n.2045C>G c.1492C>G (p.Leu498Val) c.1507C>G (p.Leu503Val) c.*1383C>G (n.*1383C>G) c.1459C>G (p.Leu487Val) n.1721C>G c.1624C>G (p.Leu542Val) c.1453C>G (p.Leu485Val) c.1450C>G (p.Leu484Val) c.1600C>G (p.Leu534Val) c.1399C>G (p.Leu467Val) | |
10 | g.69382716C>T | CA470276561 | HK1 | c.1495C>T (p.Leu499=) c.1411C>T (p.Leu471=) c.1265+2621C>T (n.1265+2621C>T) c.1105C>T (p.Leu369=) c.*1112C>T (n.*1112C>T) c.*758C>T (n.*758C>T) c.1375C>T (p.Leu459=) n.2045C>T c.1492C>T (p.Leu498=) c.1507C>T (p.Leu503=) c.*1383C>T (n.*1383C>T) c.1459C>T (p.Leu487=) n.1721C>T c.1624C>T (p.Leu542=) c.1453C>T (p.Leu485=) c.1450C>T (p.Leu484=) c.1600C>T (p.Leu534=) c.1399C>T (p.Leu467=) | gnomAD v4 |
10 | g.69382717T>A | CA376910081 | HK1 | c.1496T>A (p.Leu499Gln) c.1412T>A (p.Leu471Gln) c.1265+2622T>A (n.1265+2622T>A) c.1106T>A (p.Leu369Gln) c.*1113T>A (n.*1113T>A) c.*759T>A (n.*759T>A) c.1376T>A (p.Leu459Gln) n.2046T>A n.1T>A c.1493T>A (p.Leu498Gln) c.1508T>A (p.Leu503Gln) c.*1384T>A (n.*1384T>A) c.1460T>A (p.Leu487Gln) n.1722T>A c.1625T>A (p.Leu542Gln) c.1454T>A (p.Leu485Gln) c.1451T>A (p.Leu484Gln) c.1601T>A (p.Leu534Gln) c.1400T>A (p.Leu467Gln) | gnomAD v4 |
10 | g.69382717T>C | CA376910077 | HK1 | c.1496T>C (p.Leu499Pro) c.1412T>C (p.Leu471Pro) c.1265+2622T>C (n.1265+2622T>C) c.1106T>C (p.Leu369Pro) c.*1113T>C (n.*1113T>C) c.*759T>C (n.*759T>C) c.1376T>C (p.Leu459Pro) n.2046T>C n.1T>C c.1493T>C (p.Leu498Pro) c.1508T>C (p.Leu503Pro) c.*1384T>C (n.*1384T>C) c.1460T>C (p.Leu487Pro) n.1722T>C c.1625T>C (p.Leu542Pro) c.1454T>C (p.Leu485Pro) c.1451T>C (p.Leu484Pro) c.1601T>C (p.Leu534Pro) c.1400T>C (p.Leu467Pro) | |
10 | g.69382717T>G | CA376910079 | HK1 | c.1496T>G (p.Leu499Arg) c.1412T>G (p.Leu471Arg) c.1265+2622T>G (n.1265+2622T>G) c.1106T>G (p.Leu369Arg) c.*1113T>G (n.*1113T>G) c.*759T>G (n.*759T>G) c.1376T>G (p.Leu459Arg) n.2046T>G n.1T>G c.1493T>G (p.Leu498Arg) c.1508T>G (p.Leu503Arg) c.*1384T>G (n.*1384T>G) c.1460T>G (p.Leu487Arg) n.1722T>G c.1625T>G (p.Leu542Arg) c.1454T>G (p.Leu485Arg) c.1451T>G (p.Leu484Arg) c.1601T>G (p.Leu534Arg) c.1400T>G (p.Leu467Arg) |