Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
10 | g.69382718G>A | CA470276562 | HK1 | c.1497G>A (p.Leu499=) c.1413G>A (p.Leu471=) c.1265+2623G>A (n.1265+2623G>A) c.1107G>A (p.Leu369=) c.*1114G>A (n.*1114G>A) c.*760G>A (n.*760G>A) c.1377G>A (p.Leu459=) n.2047G>A n.2G>A c.1494G>A (p.Leu498=) c.1509G>A (p.Leu503=) c.*1385G>A (n.*1385G>A) c.1461G>A (p.Leu487=) n.1723G>A c.1626G>A (p.Leu542=) c.1455G>A (p.Leu485=) c.1452G>A (p.Leu484=) c.1602G>A (p.Leu534=) c.1401G>A (p.Leu467=) | |
10 | g.69382718G>C | CA5532610 | HK1 | c.1497G>C (p.Leu499=) c.1413G>C (p.Leu471=) c.1265+2623G>C (n.1265+2623G>C) c.1107G>C (p.Leu369=) c.*1114G>C (n.*1114G>C) c.*760G>C (n.*760G>C) c.1377G>C (p.Leu459=) n.2047G>C n.2G>C c.1494G>C (p.Leu498=) c.1509G>C (p.Leu503=) c.*1385G>C (n.*1385G>C) c.1461G>C (p.Leu487=) n.1723G>C c.1626G>C (p.Leu542=) c.1455G>C (p.Leu485=) c.1452G>C (p.Leu484=) c.1602G>C (p.Leu534=) c.1401G>C (p.Leu467=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.69382718G= | CA1917772264 | HK1 | c.1497G= (p.Leu499=) c.1413G= (p.Leu471=) c.1265+2623G= (n.1265+2623G=) c.1107G= (p.Leu369=) c.*1114G= (n.*1114G=) c.*760G= (n.*760G=) c.1377G= (p.Leu459=) n.2047G= n.2G= c.1494G= (p.Leu498=) c.1509G= (p.Leu503=) c.*1385G= (n.*1385G=) c.1461G= (p.Leu487=) n.1723G= c.1626G= (p.Leu542=) c.1455G= (p.Leu485=) c.1452G= (p.Leu484=) c.1602G= (p.Leu534=) c.1401G= (p.Leu467=) | |
10 | g.69382718G>T | CA470276563 | HK1 | c.1497G>T (p.Leu499=) c.1413G>T (p.Leu471=) c.1265+2623G>T (n.1265+2623G>T) c.1107G>T (p.Leu369=) c.*1114G>T (n.*1114G>T) c.*760G>T (n.*760G>T) c.1377G>T (p.Leu459=) n.2047G>T n.2G>T c.1494G>T (p.Leu498=) c.1509G>T (p.Leu503=) c.*1385G>T (n.*1385G>T) c.1461G>T (p.Leu487=) n.1723G>T c.1626G>T (p.Leu542=) c.1455G>T (p.Leu485=) c.1452G>T (p.Leu484=) c.1602G>T (p.Leu534=) c.1401G>T (p.Leu467=) | |
10 | g.69382719A>C | CA470276566 | HK1 | c.1498A>C (p.Arg500=) c.1414A>C (p.Arg472=) c.1265+2624A>C (n.1265+2624A>C) c.1108A>C (p.Arg370=) c.*1115A>C (n.*1115A>C) c.*761A>C (n.*761A>C) c.1378A>C (p.Arg460=) n.2048A>C n.3A>C c.1495A>C (p.Arg499=) c.1510A>C (p.Arg504=) c.*1386A>C (n.*1386A>C) c.1462A>C (p.Arg488=) n.1724A>C c.1627A>C (p.Arg543=) c.1456A>C (p.Arg486=) c.1453A>C (p.Arg485=) c.1603A>C (p.Arg535=) c.1402A>C (p.Arg468=) | |
10 | g.69382719A>G | CA376910086 | HK1 | c.1498A>G (p.Arg500Gly) c.1414A>G (p.Arg472Gly) c.1265+2624A>G (n.1265+2624A>G) c.1108A>G (p.Arg370Gly) c.*1115A>G (n.*1115A>G) c.*761A>G (n.*761A>G) c.1378A>G (p.Arg460Gly) n.2048A>G n.3A>G c.1495A>G (p.Arg499Gly) c.1510A>G (p.Arg504Gly) c.*1386A>G (n.*1386A>G) c.1462A>G (p.Arg488Gly) n.1724A>G c.1627A>G (p.Arg543Gly) c.1456A>G (p.Arg486Gly) c.1453A>G (p.Arg485Gly) c.1603A>G (p.Arg535Gly) c.1402A>G (p.Arg468Gly) | |
10 | g.69382719A>T | CA376910089 | HK1 | c.1498A>T (p.Arg500Trp) c.1414A>T (p.Arg472Trp) c.1265+2624A>T (n.1265+2624A>T) c.1108A>T (p.Arg370Trp) c.*1115A>T (n.*1115A>T) c.*761A>T (n.*761A>T) c.1378A>T (p.Arg460Trp) n.2048A>T n.3A>T c.1495A>T (p.Arg499Trp) c.1510A>T (p.Arg504Trp) c.*1386A>T (n.*1386A>T) c.1462A>T (p.Arg488Trp) n.1724A>T c.1627A>T (p.Arg543Trp) c.1456A>T (p.Arg486Trp) c.1453A>T (p.Arg485Trp) c.1603A>T (p.Arg535Trp) c.1402A>T (p.Arg468Trp) | |
10 | g.69382720G>A | CA376910090 | HK1 | c.1499G>A (p.Arg500Lys) c.1415G>A (p.Arg472Lys) c.1265+2625G>A (n.1265+2625G>A) c.1109G>A (p.Arg370Lys) c.*1116G>A (n.*1116G>A) c.*762G>A (n.*762G>A) c.1379G>A (p.Arg460Lys) n.2049G>A n.4G>A c.1496G>A (p.Arg499Lys) c.1511G>A (p.Arg504Lys) c.*1387G>A (n.*1387G>A) c.1463G>A (p.Arg488Lys) n.1725G>A c.1628G>A (p.Arg543Lys) c.1457G>A (p.Arg486Lys) c.1454G>A (p.Arg485Lys) c.1604G>A (p.Arg535Lys) c.1403G>A (p.Arg468Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.69382720G>C | CA376910092 | HK1 | c.1499G>C (p.Arg500Thr) c.1415G>C (p.Arg472Thr) c.1265+2625G>C (n.1265+2625G>C) c.1109G>C (p.Arg370Thr) c.*1116G>C (n.*1116G>C) c.*762G>C (n.*762G>C) c.1379G>C (p.Arg460Thr) n.2049G>C n.4G>C c.1496G>C (p.Arg499Thr) c.1511G>C (p.Arg504Thr) c.*1387G>C (n.*1387G>C) c.1463G>C (p.Arg488Thr) n.1725G>C c.1628G>C (p.Arg543Thr) c.1457G>C (p.Arg486Thr) c.1454G>C (p.Arg485Thr) c.1604G>C (p.Arg535Thr) c.1403G>C (p.Arg468Thr) | ClinVar dbSNP |
10 | g.69382720G= | CA1917772268 | HK1 | c.1499G= (p.Arg500=) c.1415G= (p.Arg472=) c.1265+2625G= (n.1265+2625G=) c.1109G= (p.Arg370=) c.*1116G= (n.*1116G=) c.*762G= (n.*762G=) c.1379G= (p.Arg460=) n.2049G= n.4G= c.1496G= (p.Arg499=) c.1511G= (p.Arg504=) c.*1387G= (n.*1387G=) c.1463G= (p.Arg488=) n.1725G= c.1628G= (p.Arg543=) c.1457G= (p.Arg486=) c.1454G= (p.Arg485=) c.1604G= (p.Arg535=) c.1403G= (p.Arg468=) | |
10 | g.69382720G>T | CA5532611 | HK1 | c.1499G>T (p.Arg500Met) c.1415G>T (p.Arg472Met) c.1265+2625G>T (n.1265+2625G>T) c.1109G>T (p.Arg370Met) c.*1116G>T (n.*1116G>T) c.*762G>T (n.*762G>T) c.1379G>T (p.Arg460Met) n.2049G>T n.4G>T c.1496G>T (p.Arg499Met) c.1511G>T (p.Arg504Met) c.*1387G>T (n.*1387G>T) c.1463G>T (p.Arg488Met) n.1725G>T c.1628G>T (p.Arg543Met) c.1457G>T (p.Arg486Met) c.1454G>T (p.Arg485Met) c.1604G>T (p.Arg535Met) c.1403G>T (p.Arg468Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382721G>A | CA470276570 | HK1 | c.1500G>A (p.Arg500=) c.1416G>A (p.Arg472=) c.1265+2626G>A (n.1265+2626G>A) c.1110G>A (p.Arg370=) c.*1117G>A (n.*1117G>A) c.*763G>A (n.*763G>A) c.1380G>A (p.Arg460=) n.2050G>A n.5G>A c.1497G>A (p.Arg499=) c.1512G>A (p.Arg504=) c.*1388G>A (n.*1388G>A) c.1464G>A (p.Arg488=) n.1726G>A c.1629G>A (p.Arg543=) c.1458G>A (p.Arg486=) c.1455G>A (p.Arg485=) c.1605G>A (p.Arg535=) c.1404G>A (p.Arg468=) | |
10 | g.69382721G>C | CA376910095 | HK1 | c.1500G>C (p.Arg500Ser) c.1416G>C (p.Arg472Ser) c.1265+2626G>C (n.1265+2626G>C) c.1110G>C (p.Arg370Ser) c.*1117G>C (n.*1117G>C) c.*763G>C (n.*763G>C) c.1380G>C (p.Arg460Ser) n.2050G>C n.5G>C c.1497G>C (p.Arg499Ser) c.1512G>C (p.Arg504Ser) c.*1388G>C (n.*1388G>C) c.1464G>C (p.Arg488Ser) n.1726G>C c.1629G>C (p.Arg543Ser) c.1458G>C (p.Arg486Ser) c.1455G>C (p.Arg485Ser) c.1605G>C (p.Arg535Ser) c.1404G>C (p.Arg468Ser) | |
10 | g.69382721G>T | CA376910094 | HK1 | c.1500G>T (p.Arg500Ser) c.1416G>T (p.Arg472Ser) c.1265+2626G>T (n.1265+2626G>T) c.1110G>T (p.Arg370Ser) c.*1117G>T (n.*1117G>T) c.*763G>T (n.*763G>T) c.1380G>T (p.Arg460Ser) n.2050G>T n.5G>T c.1497G>T (p.Arg499Ser) c.1512G>T (p.Arg504Ser) c.*1388G>T (n.*1388G>T) c.1464G>T (p.Arg488Ser) n.1726G>T c.1629G>T (p.Arg543Ser) c.1458G>T (p.Arg486Ser) c.1455G>T (p.Arg485Ser) c.1605G>T (p.Arg535Ser) c.1404G>T (p.Arg468Ser) | |
10 | g.69382722A>C | CA376910098 | HK1 | c.1501A>C (p.Lys501Gln) c.1417A>C (p.Lys473Gln) c.1265+2627A>C (n.1265+2627A>C) c.1111A>C (p.Lys371Gln) c.*1118A>C (n.*1118A>C) c.*764A>C (n.*764A>C) c.1381A>C (p.Lys461Gln) n.2051A>C n.6A>C c.1498A>C (p.Lys500Gln) c.1513A>C (p.Lys505Gln) c.*1389A>C (n.*1389A>C) c.1465A>C (p.Lys489Gln) n.1727A>C c.1630A>C (p.Lys544Gln) c.1459A>C (p.Lys487Gln) c.1456A>C (p.Lys486Gln) c.1606A>C (p.Lys536Gln) c.1405A>C (p.Lys469Gln) | |
10 | g.69382722A>G | CA376910101 | HK1 | c.1501A>G (p.Lys501Glu) c.1417A>G (p.Lys473Glu) c.1265+2627A>G (n.1265+2627A>G) c.1111A>G (p.Lys371Glu) c.*1118A>G (n.*1118A>G) c.*764A>G (n.*764A>G) c.1381A>G (p.Lys461Glu) n.2051A>G n.6A>G c.1498A>G (p.Lys500Glu) c.1513A>G (p.Lys505Glu) c.*1389A>G (n.*1389A>G) c.1465A>G (p.Lys489Glu) n.1727A>G c.1630A>G (p.Lys544Glu) c.1459A>G (p.Lys487Glu) c.1456A>G (p.Lys486Glu) c.1606A>G (p.Lys536Glu) c.1405A>G (p.Lys469Glu) | |
10 | g.69382722A>T | CA376910100 | HK1 | c.1501A>T (p.Lys501Ter) c.1417A>T (p.Lys473Ter) c.1265+2627A>T (n.1265+2627A>T) c.1111A>T (p.Lys371Ter) c.*1118A>T (n.*1118A>T) c.*764A>T (n.*764A>T) c.1381A>T (p.Lys461Ter) n.2051A>T n.6A>T c.1498A>T (p.Lys500Ter) c.1513A>T (p.Lys505Ter) c.*1389A>T (n.*1389A>T) c.1465A>T (p.Lys489Ter) n.1727A>T c.1630A>T (p.Lys544Ter) c.1459A>T (p.Lys487Ter) c.1456A>T (p.Lys486Ter) c.1606A>T (p.Lys536Ter) c.1405A>T (p.Lys469Ter) | |
10 | g.69382723A>C | CA376910105 | HK1 | c.1502A>C (p.Lys501Thr) c.1418A>C (p.Lys473Thr) c.1265+2628A>C (n.1265+2628A>C) c.1112A>C (p.Lys371Thr) c.*1119A>C (n.*1119A>C) c.*765A>C (n.*765A>C) c.1382A>C (p.Lys461Thr) n.2052A>C n.7A>C c.1499A>C (p.Lys500Thr) c.1514A>C (p.Lys505Thr) c.*1390A>C (n.*1390A>C) c.1466A>C (p.Lys489Thr) n.1728A>C c.1631A>C (p.Lys544Thr) c.1460A>C (p.Lys487Thr) c.1457A>C (p.Lys486Thr) c.1607A>C (p.Lys536Thr) c.1406A>C (p.Lys469Thr) | |
10 | g.69382723A>G | CA376910109 | HK1 | c.1502A>G (p.Lys501Arg) c.1418A>G (p.Lys473Arg) c.1265+2628A>G (n.1265+2628A>G) c.1112A>G (p.Lys371Arg) c.*1119A>G (n.*1119A>G) c.*765A>G (n.*765A>G) c.1382A>G (p.Lys461Arg) n.2052A>G n.7A>G c.1499A>G (p.Lys500Arg) c.1514A>G (p.Lys505Arg) c.*1390A>G (n.*1390A>G) c.1466A>G (p.Lys489Arg) n.1728A>G c.1631A>G (p.Lys544Arg) c.1460A>G (p.Lys487Arg) c.1457A>G (p.Lys486Arg) c.1607A>G (p.Lys536Arg) c.1406A>G (p.Lys469Arg) | |
10 | g.69382723A>T | CA376910107 | HK1 | c.1502A>T (p.Lys501Met) c.1418A>T (p.Lys473Met) c.1265+2628A>T (n.1265+2628A>T) c.1112A>T (p.Lys371Met) c.*1119A>T (n.*1119A>T) c.*765A>T (n.*765A>T) c.1382A>T (p.Lys461Met) n.2052A>T n.7A>T c.1499A>T (p.Lys500Met) c.1514A>T (p.Lys505Met) c.*1390A>T (n.*1390A>T) c.1466A>T (p.Lys489Met) n.1728A>T c.1631A>T (p.Lys544Met) c.1460A>T (p.Lys487Met) c.1457A>T (p.Lys486Met) c.1607A>T (p.Lys536Met) c.1406A>T (p.Lys469Met) | |
10 | g.69382724G>A | CA470276575 | HK1 | c.1503G>A (p.Lys501=) c.1419G>A (p.Lys473=) c.1265+2629G>A (n.1265+2629G>A) c.1113G>A (p.Lys371=) c.*1120G>A (n.*1120G>A) c.*766G>A (n.*766G>A) c.1383G>A (p.Lys461=) n.2053G>A n.8G>A c.1500G>A (p.Lys500=) c.1515G>A (p.Lys505=) c.*1391G>A (n.*1391G>A) c.1467G>A (p.Lys489=) n.1729G>A c.1632G>A (p.Lys544=) c.1461G>A (p.Lys487=) c.1458G>A (p.Lys486=) c.1608G>A (p.Lys536=) c.1407G>A (p.Lys469=) | |
10 | g.69382724G>C | CA376910112 | HK1 | c.1503G>C (p.Lys501Asn) c.1419G>C (p.Lys473Asn) c.1265+2629G>C (n.1265+2629G>C) c.1113G>C (p.Lys371Asn) c.*1120G>C (n.*1120G>C) c.*766G>C (n.*766G>C) c.1383G>C (p.Lys461Asn) n.2053G>C n.8G>C c.1500G>C (p.Lys500Asn) c.1515G>C (p.Lys505Asn) c.*1391G>C (n.*1391G>C) c.1467G>C (p.Lys489Asn) n.1729G>C c.1632G>C (p.Lys544Asn) c.1461G>C (p.Lys487Asn) c.1458G>C (p.Lys486Asn) c.1608G>C (p.Lys536Asn) c.1407G>C (p.Lys469Asn) | |
10 | g.69382724G>T | CA376910113 | HK1 | c.1503G>T (p.Lys501Asn) c.1419G>T (p.Lys473Asn) c.1265+2629G>T (n.1265+2629G>T) c.1113G>T (p.Lys371Asn) c.*1120G>T (n.*1120G>T) c.*766G>T (n.*766G>T) c.1383G>T (p.Lys461Asn) n.2053G>T n.8G>T c.1500G>T (p.Lys500Asn) c.1515G>T (p.Lys505Asn) c.*1391G>T (n.*1391G>T) c.1467G>T (p.Lys489Asn) n.1729G>T c.1632G>T (p.Lys544Asn) c.1461G>T (p.Lys487Asn) c.1458G>T (p.Lys486Asn) c.1608G>T (p.Lys536Asn) c.1407G>T (p.Lys469Asn) | COSMIC COSMIC COSMIC COSMIC |
10 | g.69382725C>A | CA376910115 | HK1 | c.1504C>A (p.Gln502Lys) c.1420C>A (p.Gln474Lys) c.1265+2630C>A (n.1265+2630C>A) c.1114C>A (p.Gln372Lys) c.*1121C>A (n.*1121C>A) c.*767C>A (n.*767C>A) c.1384C>A (p.Gln462Lys) n.2054C>A n.9C>A c.1501C>A (p.Gln501Lys) c.1516C>A (p.Gln506Lys) c.*1392C>A (n.*1392C>A) c.1468C>A (p.Gln490Lys) n.1730C>A c.1633C>A (p.Gln545Lys) c.1462C>A (p.Gln488Lys) c.1459C>A (p.Gln487Lys) c.1609C>A (p.Gln537Lys) c.1408C>A (p.Gln470Lys) | |
10 | g.69382725C>G | CA376910117 | HK1 | c.1504C>G (p.Gln502Glu) c.1420C>G (p.Gln474Glu) c.1265+2630C>G (n.1265+2630C>G) c.1114C>G (p.Gln372Glu) c.*1121C>G (n.*1121C>G) c.*767C>G (n.*767C>G) c.1384C>G (p.Gln462Glu) n.2054C>G n.9C>G c.1501C>G (p.Gln501Glu) c.1516C>G (p.Gln506Glu) c.*1392C>G (n.*1392C>G) c.1468C>G (p.Gln490Glu) n.1730C>G c.1633C>G (p.Gln545Glu) c.1462C>G (p.Gln488Glu) c.1459C>G (p.Gln487Glu) c.1609C>G (p.Gln537Glu) c.1408C>G (p.Gln470Glu) | |
10 | g.69382725C>T | CA376910118 | HK1 | c.1504C>T (p.Gln502Ter) c.1420C>T (p.Gln474Ter) c.1265+2630C>T (n.1265+2630C>T) c.1114C>T (p.Gln372Ter) c.*1121C>T (n.*1121C>T) c.*767C>T (n.*767C>T) c.1384C>T (p.Gln462Ter) n.2054C>T n.9C>T c.1501C>T (p.Gln501Ter) c.1516C>T (p.Gln506Ter) c.*1392C>T (n.*1392C>T) c.1468C>T (p.Gln490Ter) n.1730C>T c.1633C>T (p.Gln545Ter) c.1462C>T (p.Gln488Ter) c.1459C>T (p.Gln487Ter) c.1609C>T (p.Gln537Ter) c.1408C>T (p.Gln470Ter) | |
10 | g.69382726A>C | CA376910120 | HK1 | c.1505A>C (p.Gln502Pro) c.1421A>C (p.Gln474Pro) c.1265+2631A>C (n.1265+2631A>C) c.1115A>C (p.Gln372Pro) c.*1122A>C (n.*1122A>C) c.*768A>C (n.*768A>C) c.1385A>C (p.Gln462Pro) n.2055A>C n.10A>C c.1502A>C (p.Gln501Pro) c.1517A>C (p.Gln506Pro) c.*1393A>C (n.*1393A>C) c.1469A>C (p.Gln490Pro) n.1731A>C c.1634A>C (p.Gln545Pro) c.1463A>C (p.Gln488Pro) c.1460A>C (p.Gln487Pro) c.1610A>C (p.Gln537Pro) c.1409A>C (p.Gln470Pro) | |
10 | g.69382726A>G | CA376910122 | HK1 | c.1505A>G (p.Gln502Arg) c.1421A>G (p.Gln474Arg) c.1265+2631A>G (n.1265+2631A>G) c.1115A>G (p.Gln372Arg) c.*1122A>G (n.*1122A>G) c.*768A>G (n.*768A>G) c.1385A>G (p.Gln462Arg) n.2055A>G n.10A>G c.1502A>G (p.Gln501Arg) c.1517A>G (p.Gln506Arg) c.*1393A>G (n.*1393A>G) c.1469A>G (p.Gln490Arg) n.1731A>G c.1634A>G (p.Gln545Arg) c.1463A>G (p.Gln488Arg) c.1460A>G (p.Gln487Arg) c.1610A>G (p.Gln537Arg) c.1409A>G (p.Gln470Arg) | |
10 | g.69382726A>T | CA376910124 | HK1 | c.1505A>T (p.Gln502Leu) c.1421A>T (p.Gln474Leu) c.1265+2631A>T (n.1265+2631A>T) c.1115A>T (p.Gln372Leu) c.*1122A>T (n.*1122A>T) c.*768A>T (n.*768A>T) c.1385A>T (p.Gln462Leu) n.2055A>T n.10A>T c.1502A>T (p.Gln501Leu) c.1517A>T (p.Gln506Leu) c.*1393A>T (n.*1393A>T) c.1469A>T (p.Gln490Leu) n.1731A>T c.1634A>T (p.Gln545Leu) c.1463A>T (p.Gln488Leu) c.1460A>T (p.Gln487Leu) c.1610A>T (p.Gln537Leu) c.1409A>T (p.Gln470Leu) | |
10 | g.69382727G>A | CA470276577 | HK1 | c.1506G>A (p.Gln502=) c.1422G>A (p.Gln474=) c.1265+2632G>A (n.1265+2632G>A) c.1116G>A (p.Gln372=) c.*1123G>A (n.*1123G>A) c.*769G>A (n.*769G>A) c.1386G>A (p.Gln462=) n.2056G>A n.11G>A c.1503G>A (p.Gln501=) c.1518G>A (p.Gln506=) c.*1394G>A (n.*1394G>A) c.1470G>A (p.Gln490=) n.1732G>A c.1635G>A (p.Gln545=) c.1464G>A (p.Gln488=) c.1461G>A (p.Gln487=) c.1611G>A (p.Gln537=) c.1410G>A (p.Gln470=) | |
10 | g.69382727G>C | CA376910126 | HK1 | c.1506G>C (p.Gln502His) c.1422G>C (p.Gln474His) c.1265+2632G>C (n.1265+2632G>C) c.1116G>C (p.Gln372His) c.*1123G>C (n.*1123G>C) c.*769G>C (n.*769G>C) c.1386G>C (p.Gln462His) n.2056G>C n.11G>C c.1503G>C (p.Gln501His) c.1518G>C (p.Gln506His) c.*1394G>C (n.*1394G>C) c.1470G>C (p.Gln490His) n.1732G>C c.1635G>C (p.Gln545His) c.1464G>C (p.Gln488His) c.1461G>C (p.Gln487His) c.1611G>C (p.Gln537His) c.1410G>C (p.Gln470His) | |
10 | g.69382727G>T | CA376910128 | HK1 | c.1506G>T (p.Gln502His) c.1422G>T (p.Gln474His) c.1265+2632G>T (n.1265+2632G>T) c.1116G>T (p.Gln372His) c.*1123G>T (n.*1123G>T) c.*769G>T (n.*769G>T) c.1386G>T (p.Gln462His) n.2056G>T n.11G>T c.1503G>T (p.Gln501His) c.1518G>T (p.Gln506His) c.*1394G>T (n.*1394G>T) c.1470G>T (p.Gln490His) n.1732G>T c.1635G>T (p.Gln545His) c.1464G>T (p.Gln488His) c.1461G>T (p.Gln487His) c.1611G>T (p.Gln537His) c.1410G>T (p.Gln470His) | |
10 | g.69382728A>C | CA376910130 | HK1 | c.1507A>C (p.Thr503Pro) c.1423A>C (p.Thr475Pro) c.1265+2633A>C (n.1265+2633A>C) c.1117A>C (p.Thr373Pro) c.*1124A>C (n.*1124A>C) c.*770A>C (n.*770A>C) c.1387A>C (p.Thr463Pro) n.2057A>C n.12A>C c.1504A>C (p.Thr502Pro) c.1519A>C (p.Thr507Pro) c.*1395A>C (n.*1395A>C) c.1471A>C (p.Thr491Pro) n.1733A>C c.1636A>C (p.Thr546Pro) c.1465A>C (p.Thr489Pro) c.1462A>C (p.Thr488Pro) c.1612A>C (p.Thr538Pro) c.1411A>C (p.Thr471Pro) | |
10 | g.69382728A>G | CA376910132 | HK1 | c.1507A>G (p.Thr503Ala) c.1423A>G (p.Thr475Ala) c.1265+2633A>G (n.1265+2633A>G) c.1117A>G (p.Thr373Ala) c.*1124A>G (n.*1124A>G) c.*770A>G (n.*770A>G) c.1387A>G (p.Thr463Ala) n.2057A>G n.12A>G c.1504A>G (p.Thr502Ala) c.1519A>G (p.Thr507Ala) c.*1395A>G (n.*1395A>G) c.1471A>G (p.Thr491Ala) n.1733A>G c.1636A>G (p.Thr546Ala) c.1465A>G (p.Thr489Ala) c.1462A>G (p.Thr488Ala) c.1612A>G (p.Thr538Ala) c.1411A>G (p.Thr471Ala) | |
10 | g.69382728A>T | CA376910134 | HK1 | c.1507A>T (p.Thr503Ser) c.1423A>T (p.Thr475Ser) c.1265+2633A>T (n.1265+2633A>T) c.1117A>T (p.Thr373Ser) c.*1124A>T (n.*1124A>T) c.*770A>T (n.*770A>T) c.1387A>T (p.Thr463Ser) n.2057A>T n.12A>T c.1504A>T (p.Thr502Ser) c.1519A>T (p.Thr507Ser) c.*1395A>T (n.*1395A>T) c.1471A>T (p.Thr491Ser) n.1733A>T c.1636A>T (p.Thr546Ser) c.1465A>T (p.Thr489Ser) c.1462A>T (p.Thr488Ser) c.1612A>T (p.Thr538Ser) c.1411A>T (p.Thr471Ser) | |
10 | g.69382729C>A | CA376910138 | HK1 | c.1508C>A (p.Thr503Lys) c.1424C>A (p.Thr475Lys) c.1265+2634C>A (n.1265+2634C>A) c.1118C>A (p.Thr373Lys) c.*1125C>A (n.*1125C>A) c.*771C>A (n.*771C>A) c.1388C>A (p.Thr463Lys) n.2058C>A n.13C>A c.1505C>A (p.Thr502Lys) c.1520C>A (p.Thr507Lys) c.*1396C>A (n.*1396C>A) c.1472C>A (p.Thr491Lys) n.1734C>A c.1637C>A (p.Thr546Lys) c.1466C>A (p.Thr489Lys) c.1463C>A (p.Thr488Lys) c.1613C>A (p.Thr538Lys) c.1412C>A (p.Thr471Lys) | gnomAD v4 |
10 | g.69382729C= | CA1917772272 | HK1 | c.1508C= (p.Thr503=) c.1424C= (p.Thr475=) c.1265+2634C= (n.1265+2634C=) c.1118C= (p.Thr373=) c.*1125C= (n.*1125C=) c.*771C= (n.*771C=) c.1388C= (p.Thr463=) n.2058C= n.13C= c.1505C= (p.Thr502=) c.1520C= (p.Thr507=) c.*1396C= (n.*1396C=) c.1472C= (p.Thr491=) n.1734C= c.1637C= (p.Thr546=) c.1466C= (p.Thr489=) c.1463C= (p.Thr488=) c.1613C= (p.Thr538=) c.1412C= (p.Thr471=) | |
10 | g.69382729C>G | CA376910136 | HK1 | c.1508C>G (p.Thr503Arg) c.1424C>G (p.Thr475Arg) c.1265+2634C>G (n.1265+2634C>G) c.1118C>G (p.Thr373Arg) c.*1125C>G (n.*1125C>G) c.*771C>G (n.*771C>G) c.1388C>G (p.Thr463Arg) n.2058C>G n.13C>G c.1505C>G (p.Thr502Arg) c.1520C>G (p.Thr507Arg) c.*1396C>G (n.*1396C>G) c.1472C>G (p.Thr491Arg) n.1734C>G c.1637C>G (p.Thr546Arg) c.1466C>G (p.Thr489Arg) c.1463C>G (p.Thr488Arg) c.1613C>G (p.Thr538Arg) c.1412C>G (p.Thr471Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.69382729C>T | CA5532612 | HK1 | c.1508C>T (p.Thr503Met) c.1424C>T (p.Thr475Met) c.1265+2634C>T (n.1265+2634C>T) c.1118C>T (p.Thr373Met) c.*1125C>T (n.*1125C>T) c.*771C>T (n.*771C>T) c.1388C>T (p.Thr463Met) n.2058C>T n.13C>T c.1505C>T (p.Thr502Met) c.1520C>T (p.Thr507Met) c.*1396C>T (n.*1396C>T) c.1472C>T (p.Thr491Met) n.1734C>T c.1637C>T (p.Thr546Met) c.1466C>T (p.Thr489Met) c.1463C>T (p.Thr488Met) c.1613C>T (p.Thr538Met) c.1412C>T (p.Thr471Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382730G>A | CA470276581 | HK1 | c.1509G>A (p.Thr503=) c.1425G>A (p.Thr475=) c.1265+2635G>A (n.1265+2635G>A) c.1119G>A (p.Thr373=) c.*1126G>A (n.*1126G>A) c.*772G>A (n.*772G>A) c.1389G>A (p.Thr463=) n.2059G>A n.14G>A c.1506G>A (p.Thr502=) c.1521G>A (p.Thr507=) c.*1397G>A (n.*1397G>A) c.1473G>A (p.Thr491=) n.1735G>A c.1638G>A (p.Thr546=) c.1467G>A (p.Thr489=) c.1464G>A (p.Thr488=) c.1614G>A (p.Thr538=) c.1413G>A (p.Thr471=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
10 | g.69382730G>C | CA470276582 | HK1 | c.1509G>C (p.Thr503=) c.1425G>C (p.Thr475=) c.1265+2635G>C (n.1265+2635G>C) c.1119G>C (p.Thr373=) c.*1126G>C (n.*1126G>C) c.*772G>C (n.*772G>C) c.1389G>C (p.Thr463=) n.2059G>C n.14G>C c.1506G>C (p.Thr502=) c.1521G>C (p.Thr507=) c.*1397G>C (n.*1397G>C) c.1473G>C (p.Thr491=) n.1735G>C c.1638G>C (p.Thr546=) c.1467G>C (p.Thr489=) c.1464G>C (p.Thr488=) c.1614G>C (p.Thr538=) c.1413G>C (p.Thr471=) | dbSNP |
10 | g.69382730G= | CA1917772277 | HK1 | c.1509G= (p.Thr503=) c.1425G= (p.Thr475=) c.1265+2635G= (n.1265+2635G=) c.1119G= (p.Thr373=) c.*1126G= (n.*1126G=) c.*772G= (n.*772G=) c.1389G= (p.Thr463=) n.2059G= n.14G= c.1506G= (p.Thr502=) c.1521G= (p.Thr507=) c.*1397G= (n.*1397G=) c.1473G= (p.Thr491=) n.1735G= c.1638G= (p.Thr546=) c.1467G= (p.Thr489=) c.1464G= (p.Thr488=) c.1614G= (p.Thr538=) c.1413G= (p.Thr471=) | |
10 | g.69382730G>T | CA470276580 | HK1 | c.1509G>T (p.Thr503=) c.1425G>T (p.Thr475=) c.1265+2635G>T (n.1265+2635G>T) c.1119G>T (p.Thr373=) c.*1126G>T (n.*1126G>T) c.*772G>T (n.*772G>T) c.1389G>T (p.Thr463=) n.2059G>T n.14G>T c.1506G>T (p.Thr502=) c.1521G>T (p.Thr507=) c.*1397G>T (n.*1397G>T) c.1473G>T (p.Thr491=) n.1735G>T c.1638G>T (p.Thr546=) c.1467G>T (p.Thr489=) c.1464G>T (p.Thr488=) c.1614G>T (p.Thr538=) c.1413G>T (p.Thr471=) | gnomAD v4 |
10 | g.69382731C>A | CA209213206 | HK1 | c.1510C>A (p.His504Asn) c.1426C>A (p.His476Asn) c.1265+2636C>A (n.1265+2636C>A) c.1120C>A (p.His374Asn) c.*1127C>A (n.*1127C>A) c.*773C>A (n.*773C>A) c.1390C>A (p.His464Asn) n.2060C>A n.15C>A c.1507C>A (p.His503Asn) c.1522C>A (p.His508Asn) c.*1398C>A (n.*1398C>A) c.1474C>A (p.His492Asn) n.1736C>A c.1639C>A (p.His547Asn) c.1468C>A (p.His490Asn) c.1465C>A (p.His489Asn) c.1615C>A (p.His539Asn) c.1414C>A (p.His472Asn) | dbSNP gnomAD v4 |
10 | g.69382731C= | CA1917772282 | HK1 | c.1510C= (p.His504=) c.1426C= (p.His476=) c.1265+2636C= (n.1265+2636C=) c.1120C= (p.His374=) c.*1127C= (n.*1127C=) c.*773C= (n.*773C=) c.1390C= (p.His464=) n.2060C= n.15C= c.1507C= (p.His503=) c.1522C= (p.His508=) c.*1398C= (n.*1398C=) c.1474C= (p.His492=) n.1736C= c.1639C= (p.His547=) c.1468C= (p.His490=) c.1465C= (p.His489=) c.1615C= (p.His539=) c.1414C= (p.His472=) | |
10 | g.69382731C>G | CA376910141 | HK1 | c.1510C>G (p.His504Asp) c.1426C>G (p.His476Asp) c.1265+2636C>G (n.1265+2636C>G) c.1120C>G (p.His374Asp) c.*1127C>G (n.*1127C>G) c.*773C>G (n.*773C>G) c.1390C>G (p.His464Asp) n.2060C>G n.15C>G c.1507C>G (p.His503Asp) c.1522C>G (p.His508Asp) c.*1398C>G (n.*1398C>G) c.1474C>G (p.His492Asp) n.1736C>G c.1639C>G (p.His547Asp) c.1468C>G (p.His490Asp) c.1465C>G (p.His489Asp) c.1615C>G (p.His539Asp) c.1414C>G (p.His472Asp) | dbSNP |
10 | g.69382731C>T | CA376910143 | HK1 | c.1510C>T (p.His504Tyr) c.1426C>T (p.His476Tyr) c.1265+2636C>T (n.1265+2636C>T) c.1120C>T (p.His374Tyr) c.*1127C>T (n.*1127C>T) c.*773C>T (n.*773C>T) c.1390C>T (p.His464Tyr) n.2060C>T n.15C>T c.1507C>T (p.His503Tyr) c.1522C>T (p.His508Tyr) c.*1398C>T (n.*1398C>T) c.1474C>T (p.His492Tyr) n.1736C>T c.1639C>T (p.His547Tyr) c.1468C>T (p.His490Tyr) c.1465C>T (p.His489Tyr) c.1615C>T (p.His539Tyr) c.1414C>T (p.His472Tyr) | |
10 | g.69382732A>C | CA376910146 | HK1 | c.1511A>C (p.His504Pro) c.1427A>C (p.His476Pro) c.1265+2637A>C (n.1265+2637A>C) c.1121A>C (p.His374Pro) c.*1128A>C (n.*1128A>C) c.*774A>C (n.*774A>C) c.1391A>C (p.His464Pro) n.2061A>C n.16A>C c.1508A>C (p.His503Pro) c.1523A>C (p.His508Pro) c.*1399A>C (n.*1399A>C) c.1475A>C (p.His492Pro) n.1737A>C c.1640A>C (p.His547Pro) c.1469A>C (p.His490Pro) c.1466A>C (p.His489Pro) c.1616A>C (p.His539Pro) c.1415A>C (p.His472Pro) | |
10 | g.69382732A>G | CA376910147 | HK1 | c.1511A>G (p.His504Arg) c.1427A>G (p.His476Arg) c.1265+2637A>G (n.1265+2637A>G) c.1121A>G (p.His374Arg) c.*1128A>G (n.*1128A>G) c.*774A>G (n.*774A>G) c.1391A>G (p.His464Arg) n.2061A>G n.16A>G c.1508A>G (p.His503Arg) c.1523A>G (p.His508Arg) c.*1399A>G (n.*1399A>G) c.1475A>G (p.His492Arg) n.1737A>G c.1640A>G (p.His547Arg) c.1469A>G (p.His490Arg) c.1466A>G (p.His489Arg) c.1616A>G (p.His539Arg) c.1415A>G (p.His472Arg) | |
10 | g.69382732A>T | CA376910150 | HK1 | c.1511A>T (p.His504Leu) c.1427A>T (p.His476Leu) c.1265+2637A>T (n.1265+2637A>T) c.1121A>T (p.His374Leu) c.*1128A>T (n.*1128A>T) c.*774A>T (n.*774A>T) c.1391A>T (p.His464Leu) n.2061A>T n.16A>T c.1508A>T (p.His503Leu) c.1523A>T (p.His508Leu) c.*1399A>T (n.*1399A>T) c.1475A>T (p.His492Leu) n.1737A>T c.1640A>T (p.His547Leu) c.1469A>T (p.His490Leu) c.1466A>T (p.His489Leu) c.1616A>T (p.His539Leu) c.1415A>T (p.His472Leu) | |
10 | g.69382733C>A | CA376910152 | HK1 | c.1512C>A (p.His504Gln) c.1428C>A (p.His476Gln) c.1265+2638C>A (n.1265+2638C>A) c.1122C>A (p.His374Gln) c.*1129C>A (n.*1129C>A) c.*775C>A (n.*775C>A) c.1392C>A (p.His464Gln) n.2062C>A n.17C>A c.1509C>A (p.His503Gln) c.1524C>A (p.His508Gln) c.*1400C>A (n.*1400C>A) c.1476C>A (p.His492Gln) n.1738C>A c.1641C>A (p.His547Gln) c.1470C>A (p.His490Gln) c.1467C>A (p.His489Gln) c.1617C>A (p.His539Gln) c.1416C>A (p.His472Gln) | |
10 | g.69382733C>G | CA376910154 | HK1 | c.1512C>G (p.His504Gln) c.1428C>G (p.His476Gln) c.1265+2638C>G (n.1265+2638C>G) c.1122C>G (p.His374Gln) c.*1129C>G (n.*1129C>G) c.*775C>G (n.*775C>G) c.1392C>G (p.His464Gln) n.2062C>G n.17C>G c.1509C>G (p.His503Gln) c.1524C>G (p.His508Gln) c.*1400C>G (n.*1400C>G) c.1476C>G (p.His492Gln) n.1738C>G c.1641C>G (p.His547Gln) c.1470C>G (p.His490Gln) c.1467C>G (p.His489Gln) c.1617C>G (p.His539Gln) c.1416C>G (p.His472Gln) | |
10 | g.69382733C>T | CA470276584 | HK1 | c.1512C>T (p.His504=) c.1428C>T (p.His476=) c.1265+2638C>T (n.1265+2638C>T) c.1122C>T (p.His374=) c.*1129C>T (n.*1129C>T) c.*775C>T (n.*775C>T) c.1392C>T (p.His464=) n.2062C>T n.17C>T c.1509C>T (p.His503=) c.1524C>T (p.His508=) c.*1400C>T (n.*1400C>T) c.1476C>T (p.His492=) n.1738C>T c.1641C>T (p.His547=) c.1470C>T (p.His490=) c.1467C>T (p.His489=) c.1617C>T (p.His539=) c.1416C>T (p.His472=) | |
10 | g.69382734A= | CA1917772284 | HK1 | c.1513A= (p.Asn505=) c.1429A= (p.Asn477=) c.1265+2639A= (n.1265+2639A=) c.1123A= (p.Asn375=) c.*1130A= (n.*1130A=) c.*776A= (n.*776A=) c.1393A= (p.Asn465=) n.2063A= n.18A= c.1510A= (p.Asn504=) c.1525A= (p.Asn509=) c.*1401A= (n.*1401A=) c.1477A= (p.Asn493=) n.1739A= c.1642A= (p.Asn548=) c.1471A= (p.Asn491=) c.1468A= (p.Asn490=) c.1618A= (p.Asn540=) c.1417A= (p.Asn473=) | |
10 | g.69382734A>C | CA376910156 | HK1 | c.1513A>C (p.Asn505His) c.1429A>C (p.Asn477His) c.1265+2639A>C (n.1265+2639A>C) c.1123A>C (p.Asn375His) c.*1130A>C (n.*1130A>C) c.*776A>C (n.*776A>C) c.1393A>C (p.Asn465His) n.2063A>C n.18A>C c.1510A>C (p.Asn504His) c.1525A>C (p.Asn509His) c.*1401A>C (n.*1401A>C) c.1477A>C (p.Asn493His) n.1739A>C c.1642A>C (p.Asn548His) c.1471A>C (p.Asn491His) c.1468A>C (p.Asn490His) c.1618A>C (p.Asn540His) c.1417A>C (p.Asn473His) | |
10 | g.69382734A>G | CA5532613 | HK1 | c.1513A>G (p.Asn505Asp) c.1429A>G (p.Asn477Asp) c.1265+2639A>G (n.1265+2639A>G) c.1123A>G (p.Asn375Asp) c.*1130A>G (n.*1130A>G) c.*776A>G (n.*776A>G) c.1393A>G (p.Asn465Asp) n.2063A>G n.18A>G c.1510A>G (p.Asn504Asp) c.1525A>G (p.Asn509Asp) c.*1401A>G (n.*1401A>G) c.1477A>G (p.Asn493Asp) n.1739A>G c.1642A>G (p.Asn548Asp) c.1471A>G (p.Asn491Asp) c.1468A>G (p.Asn490Asp) c.1618A>G (p.Asn540Asp) c.1417A>G (p.Asn473Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382734A>T | CA376910159 | HK1 | c.1513A>T (p.Asn505Tyr) c.1429A>T (p.Asn477Tyr) c.1265+2639A>T (n.1265+2639A>T) c.1123A>T (p.Asn375Tyr) c.*1130A>T (n.*1130A>T) c.*776A>T (n.*776A>T) c.1393A>T (p.Asn465Tyr) n.2063A>T n.18A>T c.1510A>T (p.Asn504Tyr) c.1525A>T (p.Asn509Tyr) c.*1401A>T (n.*1401A>T) c.1477A>T (p.Asn493Tyr) n.1739A>T c.1642A>T (p.Asn548Tyr) c.1471A>T (p.Asn491Tyr) c.1468A>T (p.Asn490Tyr) c.1618A>T (p.Asn540Tyr) c.1417A>T (p.Asn473Tyr) | |
10 | g.69382735A>C | CA376910161 | HK1 | c.1514A>C (p.Asn505Thr) c.1430A>C (p.Asn477Thr) c.1265+2640A>C (n.1265+2640A>C) c.1124A>C (p.Asn375Thr) c.*1131A>C (n.*1131A>C) c.*777A>C (n.*777A>C) c.1394A>C (p.Asn465Thr) n.2064A>C n.19A>C c.1511A>C (p.Asn504Thr) c.1526A>C (p.Asn509Thr) c.*1402A>C (n.*1402A>C) c.1478A>C (p.Asn493Thr) n.1740A>C c.1643A>C (p.Asn548Thr) c.1472A>C (p.Asn491Thr) c.1469A>C (p.Asn490Thr) c.1619A>C (p.Asn540Thr) c.1418A>C (p.Asn473Thr) | |
10 | g.69382735A>G | CA376910164 | HK1 | c.1514A>G (p.Asn505Ser) c.1430A>G (p.Asn477Ser) c.1265+2640A>G (n.1265+2640A>G) c.1124A>G (p.Asn375Ser) c.*1131A>G (n.*1131A>G) c.*777A>G (n.*777A>G) c.1394A>G (p.Asn465Ser) n.2064A>G n.19A>G c.1511A>G (p.Asn504Ser) c.1526A>G (p.Asn509Ser) c.*1402A>G (n.*1402A>G) c.1478A>G (p.Asn493Ser) n.1740A>G c.1643A>G (p.Asn548Ser) c.1472A>G (p.Asn491Ser) c.1469A>G (p.Asn490Ser) c.1619A>G (p.Asn540Ser) c.1418A>G (p.Asn473Ser) | ClinVar dbSNP gnomAD v4 |
10 | g.69382735A>T | CA376910165 | HK1 | c.1514A>T (p.Asn505Ile) c.1430A>T (p.Asn477Ile) c.1265+2640A>T (n.1265+2640A>T) c.1124A>T (p.Asn375Ile) c.*1131A>T (n.*1131A>T) c.*777A>T (n.*777A>T) c.1394A>T (p.Asn465Ile) n.2064A>T n.19A>T c.1511A>T (p.Asn504Ile) c.1526A>T (p.Asn509Ile) c.*1402A>T (n.*1402A>T) c.1478A>T (p.Asn493Ile) n.1740A>T c.1643A>T (p.Asn548Ile) c.1472A>T (p.Asn491Ile) c.1469A>T (p.Asn490Ile) c.1619A>T (p.Asn540Ile) c.1418A>T (p.Asn473Ile) | |
10 | g.69382736C>A | CA376910171 | HK1 | c.1515C>A (p.Asn505Lys) c.1431C>A (p.Asn477Lys) c.1265+2641C>A (n.1265+2641C>A) c.1125C>A (p.Asn375Lys) c.*1132C>A (n.*1132C>A) c.*778C>A (n.*778C>A) c.1395C>A (p.Asn465Lys) n.2065C>A n.20C>A c.1512C>A (p.Asn504Lys) c.1527C>A (p.Asn509Lys) c.*1403C>A (n.*1403C>A) c.1479C>A (p.Asn493Lys) n.1741C>A c.1644C>A (p.Asn548Lys) c.1473C>A (p.Asn491Lys) c.1470C>A (p.Asn490Lys) c.1620C>A (p.Asn540Lys) c.1419C>A (p.Asn473Lys) | |
10 | g.69382736C= | CA1917772285 | HK1 | c.1515C= (p.Asn505=) c.1431C= (p.Asn477=) c.1265+2641C= (n.1265+2641C=) c.1125C= (p.Asn375=) c.*1132C= (n.*1132C=) c.*778C= (n.*778C=) c.1395C= (p.Asn465=) n.2065C= n.20C= c.1512C= (p.Asn504=) c.1527C= (p.Asn509=) c.*1403C= (n.*1403C=) c.1479C= (p.Asn493=) n.1741C= c.1644C= (p.Asn548=) c.1473C= (p.Asn491=) c.1470C= (p.Asn490=) c.1620C= (p.Asn540=) c.1419C= (p.Asn473=) | |
10 | g.69382736C>G | CA376910169 | HK1 | c.1515C>G (p.Asn505Lys) c.1431C>G (p.Asn477Lys) c.1265+2641C>G (n.1265+2641C>G) c.1125C>G (p.Asn375Lys) c.*1132C>G (n.*1132C>G) c.*778C>G (n.*778C>G) c.1395C>G (p.Asn465Lys) n.2065C>G n.20C>G c.1512C>G (p.Asn504Lys) c.1527C>G (p.Asn509Lys) c.*1403C>G (n.*1403C>G) c.1479C>G (p.Asn493Lys) n.1741C>G c.1644C>G (p.Asn548Lys) c.1473C>G (p.Asn491Lys) c.1470C>G (p.Asn490Lys) c.1620C>G (p.Asn540Lys) c.1419C>G (p.Asn473Lys) | |
10 | g.69382736C>T | CA5532614 | HK1 | c.1515C>T (p.Asn505=) c.1431C>T (p.Asn477=) c.1265+2641C>T (n.1265+2641C>T) c.1125C>T (p.Asn375=) c.*1132C>T (n.*1132C>T) c.*778C>T (n.*778C>T) c.1395C>T (p.Asn465=) n.2065C>T n.20C>T c.1512C>T (p.Asn504=) c.1527C>T (p.Asn509=) c.*1403C>T (n.*1403C>T) c.1479C>T (p.Asn493=) n.1741C>T c.1644C>T (p.Asn548=) c.1473C>T (p.Asn491=) c.1470C>T (p.Asn490=) c.1620C>T (p.Asn540=) c.1419C>T (p.Asn473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382737A>C | CA376910174 | HK1 | c.1516A>C (p.Asn506His) c.1432A>C (p.Asn478His) c.1265+2642A>C (n.1265+2642A>C) c.1126A>C (p.Asn376His) c.*1133A>C (n.*1133A>C) c.*779A>C (n.*779A>C) c.1396A>C (p.Asn466His) n.2066A>C n.21A>C c.1513A>C (p.Asn505His) c.1528A>C (p.Asn510His) c.*1404A>C (n.*1404A>C) c.1480A>C (p.Asn494His) n.1742A>C c.1645A>C (p.Asn549His) c.1474A>C (p.Asn492His) c.1471A>C (p.Asn491His) c.1621A>C (p.Asn541His) c.1420A>C (p.Asn474His) | |
10 | g.69382737A>G | CA376910176 | HK1 | c.1516A>G (p.Asn506Asp) c.1432A>G (p.Asn478Asp) c.1265+2642A>G (n.1265+2642A>G) c.1126A>G (p.Asn376Asp) c.*1133A>G (n.*1133A>G) c.*779A>G (n.*779A>G) c.1396A>G (p.Asn466Asp) n.2066A>G n.21A>G c.1513A>G (p.Asn505Asp) c.1528A>G (p.Asn510Asp) c.*1404A>G (n.*1404A>G) c.1480A>G (p.Asn494Asp) n.1742A>G c.1645A>G (p.Asn549Asp) c.1474A>G (p.Asn492Asp) c.1471A>G (p.Asn491Asp) c.1621A>G (p.Asn541Asp) c.1420A>G (p.Asn474Asp) | |
10 | g.69382737A>T | CA376910178 | HK1 | c.1516A>T (p.Asn506Tyr) c.1432A>T (p.Asn478Tyr) c.1265+2642A>T (n.1265+2642A>T) c.1126A>T (p.Asn376Tyr) c.*1133A>T (n.*1133A>T) c.*779A>T (n.*779A>T) c.1396A>T (p.Asn466Tyr) n.2066A>T n.21A>T c.1513A>T (p.Asn505Tyr) c.1528A>T (p.Asn510Tyr) c.*1404A>T (n.*1404A>T) c.1480A>T (p.Asn494Tyr) n.1742A>T c.1645A>T (p.Asn549Tyr) c.1474A>T (p.Asn492Tyr) c.1471A>T (p.Asn491Tyr) c.1621A>T (p.Asn541Tyr) c.1420A>T (p.Asn474Tyr) | |
10 | g.69382738A>C | CA376910180 | HK1 | c.1517A>C (p.Asn506Thr) c.1433A>C (p.Asn478Thr) c.1265+2643A>C (n.1265+2643A>C) c.1127A>C (p.Asn376Thr) c.*1134A>C (n.*1134A>C) c.*780A>C (n.*780A>C) c.1397A>C (p.Asn466Thr) n.2067A>C n.22A>C c.1514A>C (p.Asn505Thr) c.1529A>C (p.Asn510Thr) c.*1405A>C (n.*1405A>C) c.1481A>C (p.Asn494Thr) n.1743A>C c.1646A>C (p.Asn549Thr) c.1475A>C (p.Asn492Thr) c.1472A>C (p.Asn491Thr) c.1622A>C (p.Asn541Thr) c.1421A>C (p.Asn474Thr) | |
10 | g.69382738A>G | CA376910182 | HK1 | c.1517A>G (p.Asn506Ser) c.1433A>G (p.Asn478Ser) c.1265+2643A>G (n.1265+2643A>G) c.1127A>G (p.Asn376Ser) c.*1134A>G (n.*1134A>G) c.*780A>G (n.*780A>G) c.1397A>G (p.Asn466Ser) n.2067A>G n.22A>G c.1514A>G (p.Asn505Ser) c.1529A>G (p.Asn510Ser) c.*1405A>G (n.*1405A>G) c.1481A>G (p.Asn494Ser) n.1743A>G c.1646A>G (p.Asn549Ser) c.1475A>G (p.Asn492Ser) c.1472A>G (p.Asn491Ser) c.1622A>G (p.Asn541Ser) c.1421A>G (p.Asn474Ser) | |
10 | g.69382738A>T | CA376910184 | HK1 | c.1517A>T (p.Asn506Ile) c.1433A>T (p.Asn478Ile) c.1265+2643A>T (n.1265+2643A>T) c.1127A>T (p.Asn376Ile) c.*1134A>T (n.*1134A>T) c.*780A>T (n.*780A>T) c.1397A>T (p.Asn466Ile) n.2067A>T n.22A>T c.1514A>T (p.Asn505Ile) c.1529A>T (p.Asn510Ile) c.*1405A>T (n.*1405A>T) c.1481A>T (p.Asn494Ile) n.1743A>T c.1646A>T (p.Asn549Ile) c.1475A>T (p.Asn492Ile) c.1472A>T (p.Asn491Ile) c.1622A>T (p.Asn541Ile) c.1421A>T (p.Asn474Ile) | |
10 | g.69382739T>A | CA376910186 | HK1 | c.1518T>A (p.Asn506Lys) c.1434T>A (p.Asn478Lys) c.1265+2644T>A (n.1265+2644T>A) c.1128T>A (p.Asn376Lys) c.*1135T>A (n.*1135T>A) c.*781T>A (n.*781T>A) c.1398T>A (p.Asn466Lys) n.2068T>A n.23T>A c.1515T>A (p.Asn505Lys) c.1530T>A (p.Asn510Lys) c.*1406T>A (n.*1406T>A) c.1482T>A (p.Asn494Lys) n.1744T>A c.1647T>A (p.Asn549Lys) c.1476T>A (p.Asn492Lys) c.1473T>A (p.Asn491Lys) c.1623T>A (p.Asn541Lys) c.1422T>A (p.Asn474Lys) | |
10 | g.69382739T>C | CA470276585 | HK1 | c.1518T>C (p.Asn506=) c.1434T>C (p.Asn478=) c.1265+2644T>C (n.1265+2644T>C) c.1128T>C (p.Asn376=) c.*1135T>C (n.*1135T>C) c.*781T>C (n.*781T>C) c.1398T>C (p.Asn466=) n.2068T>C n.23T>C c.1515T>C (p.Asn505=) c.1530T>C (p.Asn510=) c.*1406T>C (n.*1406T>C) c.1482T>C (p.Asn494=) n.1744T>C c.1647T>C (p.Asn549=) c.1476T>C (p.Asn492=) c.1473T>C (p.Asn491=) c.1623T>C (p.Asn541=) c.1422T>C (p.Asn474=) | gnomAD v4 |
10 | g.69382739T>G | CA376910188 | HK1 | c.1518T>G (p.Asn506Lys) c.1434T>G (p.Asn478Lys) c.1265+2644T>G (n.1265+2644T>G) c.1128T>G (p.Asn376Lys) c.*1135T>G (n.*1135T>G) c.*781T>G (n.*781T>G) c.1398T>G (p.Asn466Lys) n.2068T>G n.23T>G c.1515T>G (p.Asn505Lys) c.1530T>G (p.Asn510Lys) c.*1406T>G (n.*1406T>G) c.1482T>G (p.Asn494Lys) n.1744T>G c.1647T>G (p.Asn549Lys) c.1476T>G (p.Asn492Lys) c.1473T>G (p.Asn491Lys) c.1623T>G (p.Asn541Lys) c.1422T>G (p.Asn474Lys) | |
10 | g.69382740G>A | CA376910189 | HK1 | c.1519G>A (p.Ala507Thr) c.1435G>A (p.Ala479Thr) c.1265+2645G>A (n.1265+2645G>A) c.1129G>A (p.Ala377Thr) c.*1136G>A (n.*1136G>A) c.*782G>A (n.*782G>A) c.1399G>A (p.Ala467Thr) n.2069G>A n.24G>A c.1516G>A (p.Ala506Thr) c.1531G>A (p.Ala511Thr) c.*1407G>A (n.*1407G>A) c.1483G>A (p.Ala495Thr) n.1745G>A c.1648G>A (p.Ala550Thr) c.1477G>A (p.Ala493Thr) c.1474G>A (p.Ala492Thr) c.1624G>A (p.Ala542Thr) c.1423G>A (p.Ala475Thr) | |
10 | g.69382740G>C | CA376910191 | HK1 | c.1519G>C (p.Ala507Pro) c.1435G>C (p.Ala479Pro) c.1265+2645G>C (n.1265+2645G>C) c.1129G>C (p.Ala377Pro) c.*1136G>C (n.*1136G>C) c.*782G>C (n.*782G>C) c.1399G>C (p.Ala467Pro) n.2069G>C n.24G>C c.1516G>C (p.Ala506Pro) c.1531G>C (p.Ala511Pro) c.*1407G>C (n.*1407G>C) c.1483G>C (p.Ala495Pro) n.1745G>C c.1648G>C (p.Ala550Pro) c.1477G>C (p.Ala493Pro) c.1474G>C (p.Ala492Pro) c.1624G>C (p.Ala542Pro) c.1423G>C (p.Ala475Pro) | |
10 | g.69382740G= | CA1917772293 | HK1 | c.1519G= (p.Ala507=) c.1435G= (p.Ala479=) c.1265+2645G= (n.1265+2645G=) c.1129G= (p.Ala377=) c.*1136G= (n.*1136G=) c.*782G= (n.*782G=) c.1399G= (p.Ala467=) n.2069G= n.24G= c.1516G= (p.Ala506=) c.1531G= (p.Ala511=) c.*1407G= (n.*1407G=) c.1483G= (p.Ala495=) n.1745G= c.1648G= (p.Ala550=) c.1477G= (p.Ala493=) c.1474G= (p.Ala492=) c.1624G= (p.Ala542=) c.1423G= (p.Ala475=) | |
10 | g.69382740G>T | CA376910193 | HK1 | c.1519G>T (p.Ala507Ser) c.1435G>T (p.Ala479Ser) c.1265+2645G>T (n.1265+2645G>T) c.1129G>T (p.Ala377Ser) c.*1136G>T (n.*1136G>T) c.*782G>T (n.*782G>T) c.1399G>T (p.Ala467Ser) n.2069G>T n.24G>T c.1516G>T (p.Ala506Ser) c.1531G>T (p.Ala511Ser) c.*1407G>T (n.*1407G>T) c.1483G>T (p.Ala495Ser) n.1745G>T c.1648G>T (p.Ala550Ser) c.1477G>T (p.Ala493Ser) c.1474G>T (p.Ala492Ser) c.1624G>T (p.Ala542Ser) c.1423G>T (p.Ala475Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.69382741C>A | CA376910196 | HK1 | c.1520C>A (p.Ala507Asp) c.1436C>A (p.Ala479Asp) c.1265+2646C>A (n.1265+2646C>A) c.1130C>A (p.Ala377Asp) c.*1137C>A (n.*1137C>A) c.*783C>A (n.*783C>A) c.1400C>A (p.Ala467Asp) n.2070C>A n.25C>A c.1517C>A (p.Ala506Asp) c.1532C>A (p.Ala511Asp) c.*1408C>A (n.*1408C>A) c.1484C>A (p.Ala495Asp) n.1746C>A c.1649C>A (p.Ala550Asp) c.1478C>A (p.Ala493Asp) c.1475C>A (p.Ala492Asp) c.1625C>A (p.Ala542Asp) c.1424C>A (p.Ala475Asp) | ClinVar |
10 | g.69382741C>G | CA376910197 | HK1 | c.1520C>G (p.Ala507Gly) c.1436C>G (p.Ala479Gly) c.1265+2646C>G (n.1265+2646C>G) c.1130C>G (p.Ala377Gly) c.*1137C>G (n.*1137C>G) c.*783C>G (n.*783C>G) c.1400C>G (p.Ala467Gly) n.2070C>G n.25C>G c.1517C>G (p.Ala506Gly) c.1532C>G (p.Ala511Gly) c.*1408C>G (n.*1408C>G) c.1484C>G (p.Ala495Gly) n.1746C>G c.1649C>G (p.Ala550Gly) c.1478C>G (p.Ala493Gly) c.1475C>G (p.Ala492Gly) c.1625C>G (p.Ala542Gly) c.1424C>G (p.Ala475Gly) | |
10 | g.69382741C>T | CA376910199 | HK1 | c.1520C>T (p.Ala507Val) c.1436C>T (p.Ala479Val) c.1265+2646C>T (n.1265+2646C>T) c.1130C>T (p.Ala377Val) c.*1137C>T (n.*1137C>T) c.*783C>T (n.*783C>T) c.1400C>T (p.Ala467Val) n.2070C>T n.25C>T c.1517C>T (p.Ala506Val) c.1532C>T (p.Ala511Val) c.*1408C>T (n.*1408C>T) c.1484C>T (p.Ala495Val) n.1746C>T c.1649C>T (p.Ala550Val) c.1478C>T (p.Ala493Val) c.1475C>T (p.Ala492Val) c.1625C>T (p.Ala542Val) c.1424C>T (p.Ala475Val) | ClinVar dbSNP |
10 | g.69382742C>A | CA470276587 | HK1 | c.1521C>A (p.Ala507=) c.1437C>A (p.Ala479=) c.1265+2647C>A (n.1265+2647C>A) c.1131C>A (p.Ala377=) c.*1138C>A (n.*1138C>A) c.*784C>A (n.*784C>A) c.1401C>A (p.Ala467=) n.2071C>A n.26C>A c.1518C>A (p.Ala506=) c.1533C>A (p.Ala511=) c.*1409C>A (n.*1409C>A) c.1485C>A (p.Ala495=) n.1747C>A c.1650C>A (p.Ala550=) c.1479C>A (p.Ala493=) c.1476C>A (p.Ala492=) c.1626C>A (p.Ala542=) c.1425C>A (p.Ala475=) | |
10 | g.69382742C= | CA1917772296 | HK1 | c.1521C= (p.Ala507=) c.1437C= (p.Ala479=) c.1265+2647C= (n.1265+2647C=) c.1131C= (p.Ala377=) c.*1138C= (n.*1138C=) c.*784C= (n.*784C=) c.1401C= (p.Ala467=) n.2071C= n.26C= c.1518C= (p.Ala506=) c.1533C= (p.Ala511=) c.*1409C= (n.*1409C=) c.1485C= (p.Ala495=) n.1747C= c.1650C= (p.Ala550=) c.1479C= (p.Ala493=) c.1476C= (p.Ala492=) c.1626C= (p.Ala542=) c.1425C= (p.Ala475=) | |
10 | g.69382742C>G | CA5532616 | HK1 | c.1521C>G (p.Ala507=) c.1437C>G (p.Ala479=) c.1265+2647C>G (n.1265+2647C>G) c.1131C>G (p.Ala377=) c.*1138C>G (n.*1138C>G) c.*784C>G (n.*784C>G) c.1401C>G (p.Ala467=) n.2071C>G n.26C>G c.1518C>G (p.Ala506=) c.1533C>G (p.Ala511=) c.*1409C>G (n.*1409C>G) c.1485C>G (p.Ala495=) n.1747C>G c.1650C>G (p.Ala550=) c.1479C>G (p.Ala493=) c.1476C>G (p.Ala492=) c.1626C>G (p.Ala542=) c.1425C>G (p.Ala475=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.69382742C>T | CA5532615 | HK1 | c.1521C>T (p.Ala507=) c.1437C>T (p.Ala479=) c.1265+2647C>T (n.1265+2647C>T) c.1131C>T (p.Ala377=) c.*1138C>T (n.*1138C>T) c.*784C>T (n.*784C>T) c.1401C>T (p.Ala467=) n.2071C>T n.26C>T c.1518C>T (p.Ala506=) c.1533C>T (p.Ala511=) c.*1409C>T (n.*1409C>T) c.1485C>T (p.Ala495=) n.1747C>T c.1650C>T (p.Ala550=) c.1479C>T (p.Ala493=) c.1476C>T (p.Ala492=) c.1626C>T (p.Ala542=) c.1425C>T (p.Ala475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382743G>A | CA5532617 | HK1 | c.1522G>A (p.Val508Met) c.1438G>A (p.Val480Met) c.1265+2648G>A (n.1265+2648G>A) c.1132G>A (p.Val378Met) c.*1139G>A (n.*1139G>A) c.*785G>A (n.*785G>A) c.1402G>A (p.Val468Met) n.2072G>A n.27G>A c.1519G>A (p.Val507Met) c.1534G>A (p.Val512Met) c.*1410G>A (n.*1410G>A) c.1486G>A (p.Val496Met) n.1748G>A c.1651G>A (p.Val551Met) c.1480G>A (p.Val494Met) c.1477G>A (p.Val493Met) c.1627G>A (p.Val543Met) c.1426G>A (p.Val476Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69382743G>C | CA376910207 | HK1 | c.1522G>C (p.Val508Leu) c.1438G>C (p.Val480Leu) c.1265+2648G>C (n.1265+2648G>C) c.1132G>C (p.Val378Leu) c.*1139G>C (n.*1139G>C) c.*785G>C (n.*785G>C) c.1402G>C (p.Val468Leu) n.2072G>C n.27G>C c.1519G>C (p.Val507Leu) c.1534G>C (p.Val512Leu) c.*1410G>C (n.*1410G>C) c.1486G>C (p.Val496Leu) n.1748G>C c.1651G>C (p.Val551Leu) c.1480G>C (p.Val494Leu) c.1477G>C (p.Val493Leu) c.1627G>C (p.Val543Leu) c.1426G>C (p.Val476Leu) | |
10 | g.69382743G= | CA1917772297 | HK1 | c.1522G= (p.Val508=) c.1438G= (p.Val480=) c.1265+2648G= (n.1265+2648G=) c.1132G= (p.Val378=) c.*1139G= (n.*1139G=) c.*785G= (n.*785G=) c.1402G= (p.Val468=) n.2072G= n.27G= c.1519G= (p.Val507=) c.1534G= (p.Val512=) c.*1410G= (n.*1410G=) c.1486G= (p.Val496=) n.1748G= c.1651G= (p.Val551=) c.1480G= (p.Val494=) c.1477G= (p.Val493=) c.1627G= (p.Val543=) c.1426G= (p.Val476=) | |
10 | g.69382743G>T | CA376910209 | HK1 | c.1522G>T (p.Val508Leu) c.1438G>T (p.Val480Leu) c.1265+2648G>T (n.1265+2648G>T) c.1132G>T (p.Val378Leu) c.*1139G>T (n.*1139G>T) c.*785G>T (n.*785G>T) c.1402G>T (p.Val468Leu) n.2072G>T n.27G>T c.1519G>T (p.Val507Leu) c.1534G>T (p.Val512Leu) c.*1410G>T (n.*1410G>T) c.1486G>T (p.Val496Leu) n.1748G>T c.1651G>T (p.Val551Leu) c.1480G>T (p.Val494Leu) c.1477G>T (p.Val493Leu) c.1627G>T (p.Val543Leu) c.1426G>T (p.Val476Leu) | gnomAD v4 |
10 | g.69382744T>A | CA376910212 | HK1 | c.1523T>A (p.Val508Glu) c.1439T>A (p.Val480Glu) c.1265+2649T>A (n.1265+2649T>A) c.1133T>A (p.Val378Glu) c.*1140T>A (n.*1140T>A) c.*786T>A (n.*786T>A) c.1403T>A (p.Val468Glu) n.2073T>A n.28T>A c.1520T>A (p.Val507Glu) c.1535T>A (p.Val512Glu) c.*1411T>A (n.*1411T>A) c.1487T>A (p.Val496Glu) n.1749T>A c.1652T>A (p.Val551Glu) c.1481T>A (p.Val494Glu) c.1478T>A (p.Val493Glu) c.1628T>A (p.Val543Glu) c.1427T>A (p.Val476Glu) | |
10 | g.69382744T>C | CA376910214 | HK1 | c.1523T>C (p.Val508Ala) c.1439T>C (p.Val480Ala) c.1265+2649T>C (n.1265+2649T>C) c.1133T>C (p.Val378Ala) c.*1140T>C (n.*1140T>C) c.*786T>C (n.*786T>C) c.1403T>C (p.Val468Ala) n.2073T>C n.28T>C c.1520T>C (p.Val507Ala) c.1535T>C (p.Val512Ala) c.*1411T>C (n.*1411T>C) c.1487T>C (p.Val496Ala) n.1749T>C c.1652T>C (p.Val551Ala) c.1481T>C (p.Val494Ala) c.1478T>C (p.Val493Ala) c.1628T>C (p.Val543Ala) c.1427T>C (p.Val476Ala) | dbSNP |
10 | g.69382744T>G | CA376910216 | HK1 | c.1523T>G (p.Val508Gly) c.1439T>G (p.Val480Gly) c.1265+2649T>G (n.1265+2649T>G) c.1133T>G (p.Val378Gly) c.*1140T>G (n.*1140T>G) c.*786T>G (n.*786T>G) c.1403T>G (p.Val468Gly) n.2073T>G n.28T>G c.1520T>G (p.Val507Gly) c.1535T>G (p.Val512Gly) c.*1411T>G (n.*1411T>G) c.1487T>G (p.Val496Gly) n.1749T>G c.1652T>G (p.Val551Gly) c.1481T>G (p.Val494Gly) c.1478T>G (p.Val493Gly) c.1628T>G (p.Val543Gly) c.1427T>G (p.Val476Gly) | |
10 | g.69382745G>A | CA470276590 | HK1 | c.1524G>A (p.Val508=) c.1440G>A (p.Val480=) c.1265+2650G>A (n.1265+2650G>A) c.1134G>A (p.Val378=) c.*1141G>A (n.*1141G>A) c.*787G>A (n.*787G>A) c.1404G>A (p.Val468=) n.2074G>A n.29G>A c.1521G>A (p.Val507=) c.1536G>A (p.Val512=) c.*1412G>A (n.*1412G>A) c.1488G>A (p.Val496=) n.1750G>A c.1653G>A (p.Val551=) c.1482G>A (p.Val494=) c.1479G>A (p.Val493=) c.1629G>A (p.Val543=) c.1428G>A (p.Val476=) | |
10 | g.69382745G>C | CA470276591 | HK1 | c.1524G>C (p.Val508=) c.1440G>C (p.Val480=) c.1265+2650G>C (n.1265+2650G>C) c.1134G>C (p.Val378=) c.*1141G>C (n.*1141G>C) c.*787G>C (n.*787G>C) c.1404G>C (p.Val468=) n.2074G>C n.29G>C c.1521G>C (p.Val507=) c.1536G>C (p.Val512=) c.*1412G>C (n.*1412G>C) c.1488G>C (p.Val496=) n.1750G>C c.1653G>C (p.Val551=) c.1482G>C (p.Val494=) c.1479G>C (p.Val493=) c.1629G>C (p.Val543=) c.1428G>C (p.Val476=) | |
10 | g.69382745G>T | CA470276592 | HK1 | c.1524G>T (p.Val508=) c.1440G>T (p.Val480=) c.1265+2650G>T (n.1265+2650G>T) c.1134G>T (p.Val378=) c.*1141G>T (n.*1141G>T) c.*787G>T (n.*787G>T) c.1404G>T (p.Val468=) n.2074G>T n.29G>T c.1521G>T (p.Val507=) c.1536G>T (p.Val512=) c.*1412G>T (n.*1412G>T) c.1488G>T (p.Val496=) n.1750G>T c.1653G>T (p.Val551=) c.1482G>T (p.Val494=) c.1479G>T (p.Val493=) c.1629G>T (p.Val543=) c.1428G>T (p.Val476=) | ClinVar |
10 | g.69382746G>A | CA376910219 | HK1 | c.1525G>A (p.Val509Ile) c.1441G>A (p.Val481Ile) c.1265+2651G>A (n.1265+2651G>A) c.1135G>A (p.Val379Ile) c.*1142G>A (n.*1142G>A) c.*788G>A (n.*788G>A) c.1405G>A (p.Val469Ile) n.2075G>A n.30G>A c.1522G>A (p.Val508Ile) c.1537G>A (p.Val513Ile) c.*1413G>A (n.*1413G>A) c.1489G>A (p.Val497Ile) n.1751G>A c.1654G>A (p.Val552Ile) c.1483G>A (p.Val495Ile) c.1480G>A (p.Val494Ile) c.1630G>A (p.Val544Ile) c.1429G>A (p.Val477Ile) | ClinVar dbSNP |
10 | g.69382746G>C | CA376910220 | HK1 | c.1525G>C (p.Val509Leu) c.1441G>C (p.Val481Leu) c.1265+2651G>C (n.1265+2651G>C) c.1135G>C (p.Val379Leu) c.*1142G>C (n.*1142G>C) c.*788G>C (n.*788G>C) c.1405G>C (p.Val469Leu) n.2075G>C n.30G>C c.1522G>C (p.Val508Leu) c.1537G>C (p.Val513Leu) c.*1413G>C (n.*1413G>C) c.1489G>C (p.Val497Leu) n.1751G>C c.1654G>C (p.Val552Leu) c.1483G>C (p.Val495Leu) c.1480G>C (p.Val494Leu) c.1630G>C (p.Val544Leu) c.1429G>C (p.Val477Leu) | |
10 | g.69382746G>T | CA376910222 | HK1 | c.1525G>T (p.Val509Phe) c.1441G>T (p.Val481Phe) c.1265+2651G>T (n.1265+2651G>T) c.1135G>T (p.Val379Phe) c.*1142G>T (n.*1142G>T) c.*788G>T (n.*788G>T) c.1405G>T (p.Val469Phe) n.2075G>T n.30G>T c.1522G>T (p.Val508Phe) c.1537G>T (p.Val513Phe) c.*1413G>T (n.*1413G>T) c.1489G>T (p.Val497Phe) n.1751G>T c.1654G>T (p.Val552Phe) c.1483G>T (p.Val495Phe) c.1480G>T (p.Val494Phe) c.1630G>T (p.Val544Phe) c.1429G>T (p.Val477Phe) | |
10 | g.69382747T>A | CA376910224 | HK1 | c.1526T>A (p.Val509Asp) c.1442T>A (p.Val481Asp) c.1265+2652T>A (n.1265+2652T>A) c.1136T>A (p.Val379Asp) c.*1143T>A (n.*1143T>A) c.*789T>A (n.*789T>A) c.1406T>A (p.Val469Asp) n.2076T>A n.31T>A c.1523T>A (p.Val508Asp) c.1538T>A (p.Val513Asp) c.*1414T>A (n.*1414T>A) c.1490T>A (p.Val497Asp) n.1752T>A c.1655T>A (p.Val552Asp) c.1484T>A (p.Val495Asp) c.1481T>A (p.Val494Asp) c.1631T>A (p.Val544Asp) c.1430T>A (p.Val477Asp) | |
10 | g.69382747T>C | CA376910225 | HK1 | c.1526T>C (p.Val509Ala) c.1442T>C (p.Val481Ala) c.1265+2652T>C (n.1265+2652T>C) c.1136T>C (p.Val379Ala) c.*1143T>C (n.*1143T>C) c.*789T>C (n.*789T>C) c.1406T>C (p.Val469Ala) n.2076T>C n.31T>C c.1523T>C (p.Val508Ala) c.1538T>C (p.Val513Ala) c.*1414T>C (n.*1414T>C) c.1490T>C (p.Val497Ala) n.1752T>C c.1655T>C (p.Val552Ala) c.1484T>C (p.Val495Ala) c.1481T>C (p.Val494Ala) c.1631T>C (p.Val544Ala) c.1430T>C (p.Val477Ala) | |
10 | g.69382747T>G | CA376910226 | HK1 | c.1526T>G (p.Val509Gly) c.1442T>G (p.Val481Gly) c.1265+2652T>G (n.1265+2652T>G) c.1136T>G (p.Val379Gly) c.*1143T>G (n.*1143T>G) c.*789T>G (n.*789T>G) c.1406T>G (p.Val469Gly) n.2076T>G n.31T>G c.1523T>G (p.Val508Gly) c.1538T>G (p.Val513Gly) c.*1414T>G (n.*1414T>G) c.1490T>G (p.Val497Gly) n.1752T>G c.1655T>G (p.Val552Gly) c.1484T>G (p.Val495Gly) c.1481T>G (p.Val494Gly) c.1631T>G (p.Val544Gly) c.1430T>G (p.Val477Gly) | |
10 | g.69382748T>A | CA470276594 | HK1 | c.1527T>A (p.Val509=) c.1443T>A (p.Val481=) c.1265+2653T>A (n.1265+2653T>A) c.1137T>A (p.Val379=) c.*1144T>A (n.*1144T>A) c.*790T>A (n.*790T>A) c.1407T>A (p.Val469=) n.2077T>A n.32T>A c.1524T>A (p.Val508=) c.1539T>A (p.Val513=) c.*1415T>A (n.*1415T>A) c.1491T>A (p.Val497=) n.1753T>A c.1656T>A (p.Val552=) c.1485T>A (p.Val495=) c.1482T>A (p.Val494=) c.1632T>A (p.Val544=) c.1431T>A (p.Val477=) | dbSNP |
10 | g.69382748T>C | CA470276596 | HK1 | c.1527T>C (p.Val509=) c.1443T>C (p.Val481=) c.1265+2653T>C (n.1265+2653T>C) c.1137T>C (p.Val379=) c.*1144T>C (n.*1144T>C) c.*790T>C (n.*790T>C) c.1407T>C (p.Val469=) n.2077T>C n.32T>C c.1524T>C (p.Val508=) c.1539T>C (p.Val513=) c.*1415T>C (n.*1415T>C) c.1491T>C (p.Val497=) n.1753T>C c.1656T>C (p.Val552=) c.1485T>C (p.Val495=) c.1482T>C (p.Val494=) c.1632T>C (p.Val544=) c.1431T>C (p.Val477=) | gnomAD v4 |
10 | g.69382748T>G | CA470276598 | HK1 | c.1527T>G (p.Val509=) c.1443T>G (p.Val481=) c.1265+2653T>G (n.1265+2653T>G) c.1137T>G (p.Val379=) c.*1144T>G (n.*1144T>G) c.*790T>G (n.*790T>G) c.1407T>G (p.Val469=) n.2077T>G n.32T>G c.1524T>G (p.Val508=) c.1539T>G (p.Val513=) c.*1415T>G (n.*1415T>G) c.1491T>G (p.Val497=) n.1753T>G c.1656T>G (p.Val552=) c.1485T>G (p.Val495=) c.1482T>G (p.Val494=) c.1632T>G (p.Val544=) c.1431T>G (p.Val477=) | |
10 | g.69382748T= | CA1917772298 | HK1 | c.1527T= (p.Val509=) c.1443T= (p.Val481=) c.1265+2653T= (n.1265+2653T=) c.1137T= (p.Val379=) c.*1144T= (n.*1144T=) c.*790T= (n.*790T=) c.1407T= (p.Val469=) n.2077T= n.32T= c.1524T= (p.Val508=) c.1539T= (p.Val513=) c.*1415T= (n.*1415T=) c.1491T= (p.Val497=) n.1753T= c.1656T= (p.Val552=) c.1485T= (p.Val495=) c.1482T= (p.Val494=) c.1632T= (p.Val544=) c.1431T= (p.Val477=) | |
10 | g.69382749A>C | CA376910228 | HK1 | c.1528A>C (p.Lys510Gln) c.1444A>C (p.Lys482Gln) c.1265+2654A>C (n.1265+2654A>C) c.1138A>C (p.Lys380Gln) c.*1145A>C (n.*1145A>C) c.*791A>C (n.*791A>C) c.1408A>C (p.Lys470Gln) n.2078A>C n.33A>C c.1525A>C (p.Lys509Gln) c.1540A>C (p.Lys514Gln) c.*1416A>C (n.*1416A>C) c.1492A>C (p.Lys498Gln) n.1754A>C c.1657A>C (p.Lys553Gln) c.1486A>C (p.Lys496Gln) c.1483A>C (p.Lys495Gln) c.1633A>C (p.Lys545Gln) c.1432A>C (p.Lys478Gln) | |
10 | g.69382749A>G | CA376910230 | HK1 | c.1528A>G (p.Lys510Glu) c.1444A>G (p.Lys482Glu) c.1265+2654A>G (n.1265+2654A>G) c.1138A>G (p.Lys380Glu) c.*1145A>G (n.*1145A>G) c.*791A>G (n.*791A>G) c.1408A>G (p.Lys470Glu) n.2078A>G n.33A>G c.1525A>G (p.Lys509Glu) c.1540A>G (p.Lys514Glu) c.*1416A>G (n.*1416A>G) c.1492A>G (p.Lys498Glu) n.1754A>G c.1657A>G (p.Lys553Glu) c.1486A>G (p.Lys496Glu) c.1483A>G (p.Lys495Glu) c.1633A>G (p.Lys545Glu) c.1432A>G (p.Lys478Glu) | |
10 | g.69382749A>T | CA376910229 | HK1 | c.1528A>T (p.Lys510Ter) c.1444A>T (p.Lys482Ter) c.1265+2654A>T (n.1265+2654A>T) c.1138A>T (p.Lys380Ter) c.*1145A>T (n.*1145A>T) c.*791A>T (n.*791A>T) c.1408A>T (p.Lys470Ter) n.2078A>T n.33A>T c.1525A>T (p.Lys509Ter) c.1540A>T (p.Lys514Ter) c.*1416A>T (n.*1416A>T) c.1492A>T (p.Lys498Ter) n.1754A>T c.1657A>T (p.Lys553Ter) c.1486A>T (p.Lys496Ter) c.1483A>T (p.Lys495Ter) c.1633A>T (p.Lys545Ter) c.1432A>T (p.Lys478Ter) | |
10 | g.69382750A>C | CA376910231 | HK1 | c.1529A>C (p.Lys510Thr) c.1445A>C (p.Lys482Thr) c.1265+2655A>C (n.1265+2655A>C) c.1139A>C (p.Lys380Thr) c.*1146A>C (n.*1146A>C) c.*792A>C (n.*792A>C) c.1409A>C (p.Lys470Thr) n.2079A>C n.34A>C c.1526A>C (p.Lys509Thr) c.1541A>C (p.Lys514Thr) c.*1417A>C (n.*1417A>C) c.1493A>C (p.Lys498Thr) n.1755A>C c.1658A>C (p.Lys553Thr) c.1487A>C (p.Lys496Thr) c.1484A>C (p.Lys495Thr) c.1634A>C (p.Lys545Thr) c.1433A>C (p.Lys478Thr) | |
10 | g.69382750A>G | CA376910233 | HK1 | c.1529A>G (p.Lys510Arg) c.1445A>G (p.Lys482Arg) c.1265+2655A>G (n.1265+2655A>G) c.1139A>G (p.Lys380Arg) c.*1146A>G (n.*1146A>G) c.*792A>G (n.*792A>G) c.1409A>G (p.Lys470Arg) n.2079A>G n.34A>G c.1526A>G (p.Lys509Arg) c.1541A>G (p.Lys514Arg) c.*1417A>G (n.*1417A>G) c.1493A>G (p.Lys498Arg) n.1755A>G c.1658A>G (p.Lys553Arg) c.1487A>G (p.Lys496Arg) c.1484A>G (p.Lys495Arg) c.1634A>G (p.Lys545Arg) c.1433A>G (p.Lys478Arg) | |
10 | g.69382750A>T | CA376910232 | HK1 | c.1529A>T (p.Lys510Met) c.1445A>T (p.Lys482Met) c.1265+2655A>T (n.1265+2655A>T) c.1139A>T (p.Lys380Met) c.*1146A>T (n.*1146A>T) c.*792A>T (n.*792A>T) c.1409A>T (p.Lys470Met) n.2079A>T n.34A>T c.1526A>T (p.Lys509Met) c.1541A>T (p.Lys514Met) c.*1417A>T (n.*1417A>T) c.1493A>T (p.Lys498Met) n.1755A>T c.1658A>T (p.Lys553Met) c.1487A>T (p.Lys496Met) c.1484A>T (p.Lys495Met) c.1634A>T (p.Lys545Met) c.1433A>T (p.Lys478Met) | |
10 | g.69382751G>A | CA470276600 | HK1 | c.1530G>A (p.Lys510=) c.1446G>A (p.Lys482=) c.1265+2656G>A (n.1265+2656G>A) c.1140G>A (p.Lys380=) c.*1147G>A (n.*1147G>A) c.*793G>A (n.*793G>A) c.1410G>A (p.Lys470=) n.2080G>A n.35G>A c.1527G>A (p.Lys509=) c.1542G>A (p.Lys514=) c.*1418G>A (n.*1418G>A) c.1494G>A (p.Lys498=) n.1756G>A c.1659G>A (p.Lys553=) c.1488G>A (p.Lys496=) c.1485G>A (p.Lys495=) c.1635G>A (p.Lys545=) c.1434G>A (p.Lys478=) | |
10 | g.69382751G>C | CA376910234 | HK1 | c.1530G>C (p.Lys510Asn) c.1446G>C (p.Lys482Asn) c.1265+2656G>C (n.1265+2656G>C) c.1140G>C (p.Lys380Asn) c.*1147G>C (n.*1147G>C) c.*793G>C (n.*793G>C) c.1410G>C (p.Lys470Asn) n.2080G>C n.35G>C c.1527G>C (p.Lys509Asn) c.1542G>C (p.Lys514Asn) c.*1418G>C (n.*1418G>C) c.1494G>C (p.Lys498Asn) n.1756G>C c.1659G>C (p.Lys553Asn) c.1488G>C (p.Lys496Asn) c.1485G>C (p.Lys495Asn) c.1635G>C (p.Lys545Asn) c.1434G>C (p.Lys478Asn) | |
10 | g.69382751G>T | CA376910235 | HK1 | c.1530G>T (p.Lys510Asn) c.1446G>T (p.Lys482Asn) c.1265+2656G>T (n.1265+2656G>T) c.1140G>T (p.Lys380Asn) c.*1147G>T (n.*1147G>T) c.*793G>T (n.*793G>T) c.1410G>T (p.Lys470Asn) n.2080G>T n.35G>T c.1527G>T (p.Lys509Asn) c.1542G>T (p.Lys514Asn) c.*1418G>T (n.*1418G>T) c.1494G>T (p.Lys498Asn) n.1756G>T c.1659G>T (p.Lys553Asn) c.1488G>T (p.Lys496Asn) c.1485G>T (p.Lys495Asn) c.1635G>T (p.Lys545Asn) c.1434G>T (p.Lys478Asn) | |
10 | g.69382752A= | CA1917772299 | HK1 | c.1531A= (p.Met511=) c.1447A= (p.Met483=) c.1265+2657A= (n.1265+2657A=) c.1141A= (p.Met381=) c.*1148A= (n.*1148A=) c.*794A= (n.*794A=) c.1411A= (p.Met471=) n.2081A= n.36A= c.1528A= (p.Met510=) c.1543A= (p.Met515=) c.*1419A= (n.*1419A=) c.1495A= (p.Met499=) n.1757A= c.1660A= (p.Met554=) c.1489A= (p.Met497=) c.1486A= (p.Met496=) c.1636A= (p.Met546=) c.1435A= (p.Met479=) | |
10 | g.69382752A>C | CA376910238 | HK1 | c.1531A>C (p.Met511Leu) c.1447A>C (p.Met483Leu) c.1265+2657A>C (n.1265+2657A>C) c.1141A>C (p.Met381Leu) c.*1148A>C (n.*1148A>C) c.*794A>C (n.*794A>C) c.1411A>C (p.Met471Leu) n.2081A>C n.36A>C c.1528A>C (p.Met510Leu) c.1543A>C (p.Met515Leu) c.*1419A>C (n.*1419A>C) c.1495A>C (p.Met499Leu) n.1757A>C c.1660A>C (p.Met554Leu) c.1489A>C (p.Met497Leu) c.1486A>C (p.Met496Leu) c.1636A>C (p.Met546Leu) c.1435A>C (p.Met479Leu) | |
10 | g.69382752A>G | CA5532618 | HK1 | c.1531A>G (p.Met511Val) c.1447A>G (p.Met483Val) c.1265+2657A>G (n.1265+2657A>G) c.1141A>G (p.Met381Val) c.*1148A>G (n.*1148A>G) c.*794A>G (n.*794A>G) c.1411A>G (p.Met471Val) n.2081A>G n.36A>G c.1528A>G (p.Met510Val) c.1543A>G (p.Met515Val) c.*1419A>G (n.*1419A>G) c.1495A>G (p.Met499Val) n.1757A>G c.1660A>G (p.Met554Val) c.1489A>G (p.Met497Val) c.1486A>G (p.Met496Val) c.1636A>G (p.Met546Val) c.1435A>G (p.Met479Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.69382752A>T | CA376910241 | HK1 | c.1531A>T (p.Met511Leu) c.1447A>T (p.Met483Leu) c.1265+2657A>T (n.1265+2657A>T) c.1141A>T (p.Met381Leu) c.*1148A>T (n.*1148A>T) c.*794A>T (n.*794A>T) c.1411A>T (p.Met471Leu) n.2081A>T n.36A>T c.1528A>T (p.Met510Leu) c.1543A>T (p.Met515Leu) c.*1419A>T (n.*1419A>T) c.1495A>T (p.Met499Leu) n.1757A>T c.1660A>T (p.Met554Leu) c.1489A>T (p.Met497Leu) c.1486A>T (p.Met496Leu) c.1636A>T (p.Met546Leu) c.1435A>T (p.Met479Leu) | |
10 | g.69382753T>A | CA376910244 | HK1 | c.1532T>A (p.Met511Lys) c.1448T>A (p.Met483Lys) c.1265+2658T>A (n.1265+2658T>A) c.1142T>A (p.Met381Lys) c.*1149T>A (n.*1149T>A) c.*795T>A (n.*795T>A) c.1412T>A (p.Met471Lys) n.2082T>A n.37T>A c.1529T>A (p.Met510Lys) c.1544T>A (p.Met515Lys) c.*1420T>A (n.*1420T>A) c.1496T>A (p.Met499Lys) n.1758T>A c.1661T>A (p.Met554Lys) c.1490T>A (p.Met497Lys) c.1487T>A (p.Met496Lys) c.1637T>A (p.Met546Lys) c.1436T>A (p.Met479Lys) | |
10 | g.69382753T>C | CA5532619 | HK1 | c.1532T>C (p.Met511Thr) c.1448T>C (p.Met483Thr) c.1265+2658T>C (n.1265+2658T>C) c.1142T>C (p.Met381Thr) c.*1149T>C (n.*1149T>C) c.*795T>C (n.*795T>C) c.1412T>C (p.Met471Thr) n.2082T>C n.37T>C c.1529T>C (p.Met510Thr) c.1544T>C (p.Met515Thr) c.*1420T>C (n.*1420T>C) c.1496T>C (p.Met499Thr) n.1758T>C c.1661T>C (p.Met554Thr) c.1490T>C (p.Met497Thr) c.1487T>C (p.Met496Thr) c.1637T>C (p.Met546Thr) c.1436T>C (p.Met479Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.69382753T>G | CA376910247 | HK1 | c.1532T>G (p.Met511Arg) c.1448T>G (p.Met483Arg) c.1265+2658T>G (n.1265+2658T>G) c.1142T>G (p.Met381Arg) c.*1149T>G (n.*1149T>G) c.*795T>G (n.*795T>G) c.1412T>G (p.Met471Arg) n.2082T>G n.37T>G c.1529T>G (p.Met510Arg) c.1544T>G (p.Met515Arg) c.*1420T>G (n.*1420T>G) c.1496T>G (p.Met499Arg) n.1758T>G c.1661T>G (p.Met554Arg) c.1490T>G (p.Met497Arg) c.1487T>G (p.Met496Arg) c.1637T>G (p.Met546Arg) c.1436T>G (p.Met479Arg) | |
10 | g.69382753T= | CA1917772302 | HK1 | c.1532T= (p.Met511=) c.1448T= (p.Met483=) c.1265+2658T= (n.1265+2658T=) c.1142T= (p.Met381=) c.*1149T= (n.*1149T=) c.*795T= (n.*795T=) c.1412T= (p.Met471=) n.2082T= n.37T= c.1529T= (p.Met510=) c.1544T= (p.Met515=) c.*1420T= (n.*1420T=) c.1496T= (p.Met499=) n.1758T= c.1661T= (p.Met554=) c.1490T= (p.Met497=) c.1487T= (p.Met496=) c.1637T= (p.Met546=) c.1436T= (p.Met479=) | |
10 | g.69382754G>A | CA376910249 | HK1 | c.1533G>A (p.Met511Ile) c.1449G>A (p.Met483Ile) c.1265+2659G>A (n.1265+2659G>A) c.1143G>A (p.Met381Ile) c.*1150G>A (n.*1150G>A) c.*796G>A (n.*796G>A) c.1413G>A (p.Met471Ile) n.2083G>A n.38G>A c.1530G>A (p.Met510Ile) c.1545G>A (p.Met515Ile) c.*1421G>A (n.*1421G>A) c.1497G>A (p.Met499Ile) n.1759G>A c.1662G>A (p.Met554Ile) c.1491G>A (p.Met497Ile) c.1488G>A (p.Met496Ile) c.1638G>A (p.Met546Ile) c.1437G>A (p.Met479Ile) | ClinVar dbSNP |
10 | g.69382754G>C | CA376910251 | HK1 | c.1533G>C (p.Met511Ile) c.1449G>C (p.Met483Ile) c.1265+2659G>C (n.1265+2659G>C) c.1143G>C (p.Met381Ile) c.*1150G>C (n.*1150G>C) c.*796G>C (n.*796G>C) c.1413G>C (p.Met471Ile) n.2083G>C n.38G>C c.1530G>C (p.Met510Ile) c.1545G>C (p.Met515Ile) c.*1421G>C (n.*1421G>C) c.1497G>C (p.Met499Ile) n.1759G>C c.1662G>C (p.Met554Ile) c.1491G>C (p.Met497Ile) c.1488G>C (p.Met496Ile) c.1638G>C (p.Met546Ile) c.1437G>C (p.Met479Ile) | |
10 | g.69382754G>T | CA376910253 | HK1 | c.1533G>T (p.Met511Ile) c.1449G>T (p.Met483Ile) c.1265+2659G>T (n.1265+2659G>T) c.1143G>T (p.Met381Ile) c.*1150G>T (n.*1150G>T) c.*796G>T (n.*796G>T) c.1413G>T (p.Met471Ile) n.2083G>T n.38G>T c.1530G>T (p.Met510Ile) c.1545G>T (p.Met515Ile) c.*1421G>T (n.*1421G>T) c.1497G>T (p.Met499Ile) n.1759G>T c.1662G>T (p.Met554Ile) c.1491G>T (p.Met497Ile) c.1488G>T (p.Met496Ile) c.1638G>T (p.Met546Ile) c.1437G>T (p.Met479Ile) | COSMIC COSMIC COSMIC COSMIC |
10 | g.69382755C>A | CA376910256 | HK1 | c.1534C>A (p.Leu512Met) c.1450C>A (p.Leu484Met) c.1265+2660C>A (n.1265+2660C>A) c.1144C>A (p.Leu382Met) c.*1151C>A (n.*1151C>A) c.*797C>A (n.*797C>A) c.1414C>A (p.Leu472Met) n.2084C>A n.39C>A c.1531C>A (p.Leu511Met) c.1546C>A (p.Leu516Met) c.*1422C>A (n.*1422C>A) c.1498C>A (p.Leu500Met) n.1760C>A c.1663C>A (p.Leu555Met) c.1492C>A (p.Leu498Met) c.1489C>A (p.Leu497Met) c.1639C>A (p.Leu547Met) c.1438C>A (p.Leu480Met) | |
10 | g.69382755C>G | CA376910261 | HK1 | c.1534C>G (p.Leu512Val) c.1450C>G (p.Leu484Val) c.1265+2660C>G (n.1265+2660C>G) c.1144C>G (p.Leu382Val) c.*1151C>G (n.*1151C>G) c.*797C>G (n.*797C>G) c.1414C>G (p.Leu472Val) n.2084C>G n.39C>G c.1531C>G (p.Leu511Val) c.1546C>G (p.Leu516Val) c.*1422C>G (n.*1422C>G) c.1498C>G (p.Leu500Val) n.1760C>G c.1663C>G (p.Leu555Val) c.1492C>G (p.Leu498Val) c.1489C>G (p.Leu497Val) c.1639C>G (p.Leu547Val) c.1438C>G (p.Leu480Val) | |
10 | g.69382755C>T | CA470276604 | HK1 | c.1534C>T (p.Leu512=) c.1450C>T (p.Leu484=) c.1265+2660C>T (n.1265+2660C>T) c.1144C>T (p.Leu382=) c.*1151C>T (n.*1151C>T) c.*797C>T (n.*797C>T) c.1414C>T (p.Leu472=) n.2084C>T n.39C>T c.1531C>T (p.Leu511=) c.1546C>T (p.Leu516=) c.*1422C>T (n.*1422C>T) c.1498C>T (p.Leu500=) n.1760C>T c.1663C>T (p.Leu555=) c.1492C>T (p.Leu498=) c.1489C>T (p.Leu497=) c.1639C>T (p.Leu547=) c.1438C>T (p.Leu480=) | |
10 | g.69382756T>A | CA376910263 | HK1 | c.1535T>A (p.Leu512Gln) c.1451T>A (p.Leu484Gln) c.1265+2661T>A (n.1265+2661T>A) c.1145T>A (p.Leu382Gln) c.*1152T>A (n.*1152T>A) c.*798T>A (n.*798T>A) c.1415T>A (p.Leu472Gln) n.2085T>A n.40T>A c.1532T>A (p.Leu511Gln) c.1547T>A (p.Leu516Gln) c.*1423T>A (n.*1423T>A) c.1499T>A (p.Leu500Gln) n.1761T>A c.1664T>A (p.Leu555Gln) c.1493T>A (p.Leu498Gln) c.1490T>A (p.Leu497Gln) c.1640T>A (p.Leu547Gln) c.1439T>A (p.Leu480Gln) | |
10 | g.69382756T>C | CA376910267 | HK1 | c.1535T>C (p.Leu512Pro) c.1451T>C (p.Leu484Pro) c.1265+2661T>C (n.1265+2661T>C) c.1145T>C (p.Leu382Pro) c.*1152T>C (n.*1152T>C) c.*798T>C (n.*798T>C) c.1415T>C (p.Leu472Pro) n.2085T>C n.40T>C c.1532T>C (p.Leu511Pro) c.1547T>C (p.Leu516Pro) c.*1423T>C (n.*1423T>C) c.1499T>C (p.Leu500Pro) n.1761T>C c.1664T>C (p.Leu555Pro) c.1493T>C (p.Leu498Pro) c.1490T>C (p.Leu497Pro) c.1640T>C (p.Leu547Pro) c.1439T>C (p.Leu480Pro) | |
10 | g.69382756T>G | CA376910265 | HK1 | c.1535T>G (p.Leu512Arg) c.1451T>G (p.Leu484Arg) c.1265+2661T>G (n.1265+2661T>G) c.1145T>G (p.Leu382Arg) c.*1152T>G (n.*1152T>G) c.*798T>G (n.*798T>G) c.1415T>G (p.Leu472Arg) n.2085T>G n.40T>G c.1532T>G (p.Leu511Arg) c.1547T>G (p.Leu516Arg) c.*1423T>G (n.*1423T>G) c.1499T>G (p.Leu500Arg) n.1761T>G c.1664T>G (p.Leu555Arg) c.1493T>G (p.Leu498Arg) c.1490T>G (p.Leu497Arg) c.1640T>G (p.Leu547Arg) c.1439T>G (p.Leu480Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.69382756T= | CA1917772305 | HK1 | c.1535T= (p.Leu512=) c.1451T= (p.Leu484=) c.1265+2661T= (n.1265+2661T=) c.1145T= (p.Leu382=) c.*1152T= (n.*1152T=) c.*798T= (n.*798T=) c.1415T= (p.Leu472=) n.2085T= n.40T= c.1532T= (p.Leu511=) c.1547T= (p.Leu516=) c.*1423T= (n.*1423T=) c.1499T= (p.Leu500=) n.1761T= c.1664T= (p.Leu555=) c.1493T= (p.Leu498=) c.1490T= (p.Leu497=) c.1640T= (p.Leu547=) c.1439T= (p.Leu480=) | |
10 | g.69382757G>A | CA470276606 | HK1 | c.1536G>A (p.Leu512=) c.1452G>A (p.Leu484=) c.1265+2662G>A (n.1265+2662G>A) c.1146G>A (p.Leu382=) c.*1153G>A (n.*1153G>A) c.*799G>A (n.*799G>A) c.1416G>A (p.Leu472=) n.2086G>A n.41G>A c.1533G>A (p.Leu511=) c.1548G>A (p.Leu516=) c.*1424G>A (n.*1424G>A) c.1500G>A (p.Leu500=) n.1762G>A c.1665G>A (p.Leu555=) c.1494G>A (p.Leu498=) c.1491G>A (p.Leu497=) c.1641G>A (p.Leu547=) c.1440G>A (p.Leu480=) | |
10 | g.69382757G>C | CA470276607 | HK1 | c.1536G>C (p.Leu512=) c.1452G>C (p.Leu484=) c.1265+2662G>C (n.1265+2662G>C) c.1146G>C (p.Leu382=) c.*1153G>C (n.*1153G>C) c.*799G>C (n.*799G>C) c.1416G>C (p.Leu472=) n.2086G>C n.41G>C c.1533G>C (p.Leu511=) c.1548G>C (p.Leu516=) c.*1424G>C (n.*1424G>C) c.1500G>C (p.Leu500=) n.1762G>C c.1665G>C (p.Leu555=) c.1494G>C (p.Leu498=) c.1491G>C (p.Leu497=) c.1641G>C (p.Leu547=) c.1440G>C (p.Leu480=) | |
10 | g.69382757G>T | CA470276609 | HK1 | c.1536G>T (p.Leu512=) c.1452G>T (p.Leu484=) c.1265+2662G>T (n.1265+2662G>T) c.1146G>T (p.Leu382=) c.*1153G>T (n.*1153G>T) c.*799G>T (n.*799G>T) c.1416G>T (p.Leu472=) n.2086G>T n.41G>T c.1533G>T (p.Leu511=) c.1548G>T (p.Leu516=) c.*1424G>T (n.*1424G>T) c.1500G>T (p.Leu500=) n.1762G>T c.1665G>T (p.Leu555=) c.1494G>T (p.Leu498=) c.1491G>T (p.Leu497=) c.1641G>T (p.Leu547=) c.1440G>T (p.Leu480=) | |
10 | g.69382758C>A | CA376910269 | HK1 | c.1537C>A (p.Pro513Thr) c.1453C>A (p.Pro485Thr) c.1265+2663C>A (n.1265+2663C>A) c.1147C>A (p.Pro383Thr) c.*1154C>A (n.*1154C>A) c.*800C>A (n.*800C>A) c.1417C>A (p.Pro473Thr) n.2087C>A n.42C>A c.1534C>A (p.Pro512Thr) c.1549C>A (p.Pro517Thr) c.*1425C>A (n.*1425C>A) c.1501C>A (p.Pro501Thr) n.1763C>A c.1666C>A (p.Pro556Thr) c.1495C>A (p.Pro499Thr) c.1492C>A (p.Pro498Thr) c.1642C>A (p.Pro548Thr) c.1441C>A (p.Pro481Thr) | |
10 | g.69382758C>G | CA376910270 | HK1 | c.1537C>G (p.Pro513Ala) c.1453C>G (p.Pro485Ala) c.1265+2663C>G (n.1265+2663C>G) c.1147C>G (p.Pro383Ala) c.*1154C>G (n.*1154C>G) c.*800C>G (n.*800C>G) c.1417C>G (p.Pro473Ala) n.2087C>G n.42C>G c.1534C>G (p.Pro512Ala) c.1549C>G (p.Pro517Ala) c.*1425C>G (n.*1425C>G) c.1501C>G (p.Pro501Ala) n.1763C>G c.1666C>G (p.Pro556Ala) c.1495C>G (p.Pro499Ala) c.1492C>G (p.Pro498Ala) c.1642C>G (p.Pro548Ala) c.1441C>G (p.Pro481Ala) | |
10 | g.69382758C>T | CA376910272 | HK1 | c.1537C>T (p.Pro513Ser) c.1453C>T (p.Pro485Ser) c.1265+2663C>T (n.1265+2663C>T) c.1147C>T (p.Pro383Ser) c.*1154C>T (n.*1154C>T) c.*800C>T (n.*800C>T) c.1417C>T (p.Pro473Ser) n.2087C>T n.42C>T c.1534C>T (p.Pro512Ser) c.1549C>T (p.Pro517Ser) c.*1425C>T (n.*1425C>T) c.1501C>T (p.Pro501Ser) n.1763C>T c.1666C>T (p.Pro556Ser) c.1495C>T (p.Pro499Ser) c.1492C>T (p.Pro498Ser) c.1642C>T (p.Pro548Ser) c.1441C>T (p.Pro481Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
10 | g.69382759C>A | CA376910274 | HK1 | c.1538C>A (p.Pro513His) c.1454C>A (p.Pro485His) c.1265+2664C>A (n.1265+2664C>A) c.1148C>A (p.Pro383His) c.*1155C>A (n.*1155C>A) c.*801C>A (n.*801C>A) c.1418C>A (p.Pro473His) n.2088C>A n.43C>A c.1535C>A (p.Pro512His) c.1550C>A (p.Pro517His) c.*1426C>A (n.*1426C>A) c.1502C>A (p.Pro501His) n.1764C>A c.1667C>A (p.Pro556His) c.1496C>A (p.Pro499His) c.1493C>A (p.Pro498His) c.1643C>A (p.Pro548His) c.1442C>A (p.Pro481His) | |
10 | g.69382759C= | CA1917772306 | HK1 | c.1538C= (p.Pro513=) c.1454C= (p.Pro485=) c.1265+2664C= (n.1265+2664C=) c.1148C= (p.Pro383=) c.*1155C= (n.*1155C=) c.*801C= (n.*801C=) c.1418C= (p.Pro473=) n.2088C= n.43C= c.1535C= (p.Pro512=) c.1550C= (p.Pro517=) c.*1426C= (n.*1426C=) c.1502C= (p.Pro501=) n.1764C= c.1667C= (p.Pro556=) c.1496C= (p.Pro499=) c.1493C= (p.Pro498=) c.1643C= (p.Pro548=) c.1442C= (p.Pro481=) | |
10 | g.69382759C>G | CA376910275 | HK1 | c.1538C>G (p.Pro513Arg) c.1454C>G (p.Pro485Arg) c.1265+2664C>G (n.1265+2664C>G) c.1148C>G (p.Pro383Arg) c.*1155C>G (n.*1155C>G) c.*801C>G (n.*801C>G) c.1418C>G (p.Pro473Arg) n.2088C>G n.43C>G c.1535C>G (p.Pro512Arg) c.1550C>G (p.Pro517Arg) c.*1426C>G (n.*1426C>G) c.1502C>G (p.Pro501Arg) n.1764C>G c.1667C>G (p.Pro556Arg) c.1496C>G (p.Pro499Arg) c.1493C>G (p.Pro498Arg) c.1643C>G (p.Pro548Arg) c.1442C>G (p.Pro481Arg) | |
10 | g.69382759C>T | CA209213215 | HK1 | c.1538C>T (p.Pro513Leu) c.1454C>T (p.Pro485Leu) c.1265+2664C>T (n.1265+2664C>T) c.1148C>T (p.Pro383Leu) c.*1155C>T (n.*1155C>T) c.*801C>T (n.*801C>T) c.1418C>T (p.Pro473Leu) n.2088C>T n.43C>T c.1535C>T (p.Pro512Leu) c.1550C>T (p.Pro517Leu) c.*1426C>T (n.*1426C>T) c.1502C>T (p.Pro501Leu) n.1764C>T c.1667C>T (p.Pro556Leu) c.1496C>T (p.Pro499Leu) c.1493C>T (p.Pro498Leu) c.1643C>T (p.Pro548Leu) c.1442C>T (p.Pro481Leu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.69382760C>A | CA470276612 | HK1 | c.1539C>A (p.Pro513=) c.1455C>A (p.Pro485=) c.1265+2665C>A (n.1265+2665C>A) c.1149C>A (p.Pro383=) c.*1156C>A (n.*1156C>A) c.*802C>A (n.*802C>A) c.1419C>A (p.Pro473=) n.2089C>A n.44C>A c.1536C>A (p.Pro512=) c.1551C>A (p.Pro517=) c.*1427C>A (n.*1427C>A) c.1503C>A (p.Pro501=) n.1765C>A c.1668C>A (p.Pro556=) c.1497C>A (p.Pro499=) c.1494C>A (p.Pro498=) c.1644C>A (p.Pro548=) c.1443C>A (p.Pro481=) | |
10 | g.69382760C>G | CA470276613 | HK1 | c.1539C>G (p.Pro513=) c.1455C>G (p.Pro485=) c.1265+2665C>G (n.1265+2665C>G) c.1149C>G (p.Pro383=) c.*1156C>G (n.*1156C>G) c.*802C>G (n.*802C>G) c.1419C>G (p.Pro473=) n.2089C>G n.44C>G c.1536C>G (p.Pro512=) c.1551C>G (p.Pro517=) c.*1427C>G (n.*1427C>G) c.1503C>G (p.Pro501=) n.1765C>G c.1668C>G (p.Pro556=) c.1497C>G (p.Pro499=) c.1494C>G (p.Pro498=) c.1644C>G (p.Pro548=) c.1443C>G (p.Pro481=) | |
10 | g.69382760C>T | CA470276614 | HK1 | c.1539C>T (p.Pro513=) c.1455C>T (p.Pro485=) c.1265+2665C>T (n.1265+2665C>T) c.1149C>T (p.Pro383=) c.*1156C>T (n.*1156C>T) c.*802C>T (n.*802C>T) c.1419C>T (p.Pro473=) n.2089C>T n.44C>T c.1536C>T (p.Pro512=) c.1551C>T (p.Pro517=) c.*1427C>T (n.*1427C>T) c.1503C>T (p.Pro501=) n.1765C>T c.1668C>T (p.Pro556=) c.1497C>T (p.Pro499=) c.1494C>T (p.Pro498=) c.1644C>T (p.Pro548=) c.1443C>T (p.Pro481=) | |
10 | g.69382761T>A | CA376910278 | HK1 | c.1540T>A (p.Ser514Thr) c.1456T>A (p.Ser486Thr) c.1265+2666T>A (n.1265+2666T>A) c.1150T>A (p.Ser384Thr) c.*1157T>A (n.*1157T>A) c.*803T>A (n.*803T>A) c.1420T>A (p.Ser474Thr) n.2090T>A n.45T>A c.1537T>A (p.Ser513Thr) c.1552T>A (p.Ser518Thr) c.*1428T>A (n.*1428T>A) c.1504T>A (p.Ser502Thr) n.1766T>A c.1669T>A (p.Ser557Thr) c.1498T>A (p.Ser500Thr) c.1495T>A (p.Ser499Thr) c.1645T>A (p.Ser549Thr) c.1444T>A (p.Ser482Thr) | |
10 | g.69382761T>C | CA376910279 | HK1 | c.1540T>C (p.Ser514Pro) c.1456T>C (p.Ser486Pro) c.1265+2666T>C (n.1265+2666T>C) c.1150T>C (p.Ser384Pro) c.*1157T>C (n.*1157T>C) c.*803T>C (n.*803T>C) c.1420T>C (p.Ser474Pro) n.2090T>C n.45T>C c.1537T>C (p.Ser513Pro) c.1552T>C (p.Ser518Pro) c.*1428T>C (n.*1428T>C) c.1504T>C (p.Ser502Pro) n.1766T>C c.1669T>C (p.Ser557Pro) c.1498T>C (p.Ser500Pro) c.1495T>C (p.Ser499Pro) c.1645T>C (p.Ser549Pro) c.1444T>C (p.Ser482Pro) | |
10 | g.69382761T>G | CA376910280 | HK1 | c.1540T>G (p.Ser514Ala) c.1456T>G (p.Ser486Ala) c.1265+2666T>G (n.1265+2666T>G) c.1150T>G (p.Ser384Ala) c.*1157T>G (n.*1157T>G) c.*803T>G (n.*803T>G) c.1420T>G (p.Ser474Ala) n.2090T>G n.45T>G c.1537T>G (p.Ser513Ala) c.1552T>G (p.Ser518Ala) c.*1428T>G (n.*1428T>G) c.1504T>G (p.Ser502Ala) n.1766T>G c.1669T>G (p.Ser557Ala) c.1498T>G (p.Ser500Ala) c.1495T>G (p.Ser499Ala) c.1645T>G (p.Ser549Ala) c.1444T>G (p.Ser482Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.69382761T= | CA1917772307 | HK1 | c.1540T= (p.Ser514=) c.1456T= (p.Ser486=) c.1265+2666T= (n.1265+2666T=) c.1150T= (p.Ser384=) c.*1157T= (n.*1157T=) c.*803T= (n.*803T=) c.1420T= (p.Ser474=) n.2090T= n.45T= c.1537T= (p.Ser513=) c.1552T= (p.Ser518=) c.*1428T= (n.*1428T=) c.1504T= (p.Ser502=) n.1766T= c.1669T= (p.Ser557=) c.1498T= (p.Ser500=) c.1495T= (p.Ser499=) c.1645T= (p.Ser549=) c.1444T= (p.Ser482=) | |
10 | g.69382762C>A | CA376910284 | HK1 | c.1541C>A (p.Ser514Tyr) c.1457C>A (p.Ser486Tyr) c.1265+2667C>A (n.1265+2667C>A) c.1151C>A (p.Ser384Tyr) c.*1158C>A (n.*1158C>A) c.*804C>A (n.*804C>A) c.1421C>A (p.Ser474Tyr) n.2091C>A n.46C>A c.1538C>A (p.Ser513Tyr) c.1553C>A (p.Ser518Tyr) c.*1429C>A (n.*1429C>A) c.1505C>A (p.Ser502Tyr) n.1767C>A c.1670C>A (p.Ser557Tyr) c.1499C>A (p.Ser500Tyr) c.1496C>A (p.Ser499Tyr) c.1646C>A (p.Ser549Tyr) c.1445C>A (p.Ser482Tyr) | |
10 | g.69382762C>G | CA376910282 | HK1 | c.1541C>G (p.Ser514Cys) c.1457C>G (p.Ser486Cys) c.1265+2667C>G (n.1265+2667C>G) c.1151C>G (p.Ser384Cys) c.*1158C>G (n.*1158C>G) c.*804C>G (n.*804C>G) c.1421C>G (p.Ser474Cys) n.2091C>G n.46C>G c.1538C>G (p.Ser513Cys) c.1553C>G (p.Ser518Cys) c.*1429C>G (n.*1429C>G) c.1505C>G (p.Ser502Cys) n.1767C>G c.1670C>G (p.Ser557Cys) c.1499C>G (p.Ser500Cys) c.1496C>G (p.Ser499Cys) c.1646C>G (p.Ser549Cys) c.1445C>G (p.Ser482Cys) | |
10 | g.69382762C>T | CA376910281 | HK1 | c.1541C>T (p.Ser514Phe) c.1457C>T (p.Ser486Phe) c.1265+2667C>T (n.1265+2667C>T) c.1151C>T (p.Ser384Phe) c.*1158C>T (n.*1158C>T) c.*804C>T (n.*804C>T) c.1421C>T (p.Ser474Phe) n.2091C>T n.46C>T c.1538C>T (p.Ser513Phe) c.1553C>T (p.Ser518Phe) c.*1429C>T (n.*1429C>T) c.1505C>T (p.Ser502Phe) n.1767C>T c.1670C>T (p.Ser557Phe) c.1499C>T (p.Ser500Phe) c.1496C>T (p.Ser499Phe) c.1646C>T (p.Ser549Phe) c.1445C>T (p.Ser482Phe) | COSMIC COSMIC COSMIC COSMIC |
10 | g.69382763C>A | CA470276620 | HK1 | c.1542C>A (p.Ser514=) c.1458C>A (p.Ser486=) c.1265+2668C>A (n.1265+2668C>A) c.1152C>A (p.Ser384=) c.*1159C>A (n.*1159C>A) c.*805C>A (n.*805C>A) c.1422C>A (p.Ser474=) n.2092C>A n.47C>A c.1539C>A (p.Ser513=) c.1554C>A (p.Ser518=) c.*1430C>A (n.*1430C>A) c.1506C>A (p.Ser502=) n.1768C>A c.1671C>A (p.Ser557=) c.1500C>A (p.Ser500=) c.1497C>A (p.Ser499=) c.1647C>A (p.Ser549=) c.1446C>A (p.Ser482=) | |
10 | g.69382763C= | CA1917772308 | HK1 | c.1542C= (p.Ser514=) c.1458C= (p.Ser486=) c.1265+2668C= (n.1265+2668C=) c.1152C= (p.Ser384=) c.*1159C= (n.*1159C=) c.*805C= (n.*805C=) c.1422C= (p.Ser474=) n.2092C= n.47C= c.1539C= (p.Ser513=) c.1554C= (p.Ser518=) c.*1430C= (n.*1430C=) c.1506C= (p.Ser502=) n.1768C= c.1671C= (p.Ser557=) c.1500C= (p.Ser500=) c.1497C= (p.Ser499=) c.1647C= (p.Ser549=) c.1446C= (p.Ser482=) | |
10 | g.69382763C>G | CA470276623 | HK1 | c.1542C>G (p.Ser514=) c.1458C>G (p.Ser486=) c.1265+2668C>G (n.1265+2668C>G) c.1152C>G (p.Ser384=) c.*1159C>G (n.*1159C>G) c.*805C>G (n.*805C>G) c.1422C>G (p.Ser474=) n.2092C>G n.47C>G c.1539C>G (p.Ser513=) c.1554C>G (p.Ser518=) c.*1430C>G (n.*1430C>G) c.1506C>G (p.Ser502=) n.1768C>G c.1671C>G (p.Ser557=) c.1500C>G (p.Ser500=) c.1497C>G (p.Ser499=) c.1647C>G (p.Ser549=) c.1446C>G (p.Ser482=) | |
10 | g.69382763C>T | CA470276622 | HK1 | c.1542C>T (p.Ser514=) c.1458C>T (p.Ser486=) c.1265+2668C>T (n.1265+2668C>T) c.1152C>T (p.Ser384=) c.*1159C>T (n.*1159C>T) c.*805C>T (n.*805C>T) c.1422C>T (p.Ser474=) n.2092C>T n.47C>T c.1539C>T (p.Ser513=) c.1554C>T (p.Ser518=) c.*1430C>T (n.*1430C>T) c.1506C>T (p.Ser502=) n.1768C>T c.1671C>T (p.Ser557=) c.1500C>T (p.Ser500=) c.1497C>T (p.Ser499=) c.1647C>T (p.Ser549=) c.1446C>T (p.Ser482=) | dbSNP gnomAD v4 |
10 | g.69382764T>A | CA376910287 | HK1 | c.1543T>A (p.Phe515Ile) c.1459T>A (p.Phe487Ile) c.1265+2669T>A (n.1265+2669T>A) c.1153T>A (p.Phe385Ile) c.*1160T>A (n.*1160T>A) c.*806T>A (n.*806T>A) c.1423T>A (p.Phe475Ile) n.2093T>A n.48T>A c.1540T>A (p.Phe514Ile) c.1555T>A (p.Phe519Ile) c.*1431T>A (n.*1431T>A) c.1507T>A (p.Phe503Ile) n.1769T>A c.1672T>A (p.Phe558Ile) c.1501T>A (p.Phe501Ile) c.1498T>A (p.Phe500Ile) c.1648T>A (p.Phe550Ile) c.1447T>A (p.Phe483Ile) | |
10 | g.69382764T>C | CA376910288 | HK1 | c.1543T>C (p.Phe515Leu) c.1459T>C (p.Phe487Leu) c.1265+2669T>C (n.1265+2669T>C) c.1153T>C (p.Phe385Leu) c.*1160T>C (n.*1160T>C) c.*806T>C (n.*806T>C) c.1423T>C (p.Phe475Leu) n.2093T>C n.48T>C c.1540T>C (p.Phe514Leu) c.1555T>C (p.Phe519Leu) c.*1431T>C (n.*1431T>C) c.1507T>C (p.Phe503Leu) n.1769T>C c.1672T>C (p.Phe558Leu) c.1501T>C (p.Phe501Leu) c.1498T>C (p.Phe500Leu) c.1648T>C (p.Phe550Leu) c.1447T>C (p.Phe483Leu) | |
10 | g.69382764T>G | CA376910290 | HK1 | c.1543T>G (p.Phe515Val) c.1459T>G (p.Phe487Val) c.1265+2669T>G (n.1265+2669T>G) c.1153T>G (p.Phe385Val) c.*1160T>G (n.*1160T>G) c.*806T>G (n.*806T>G) c.1423T>G (p.Phe475Val) n.2093T>G n.48T>G c.1540T>G (p.Phe514Val) c.1555T>G (p.Phe519Val) c.*1431T>G (n.*1431T>G) c.1507T>G (p.Phe503Val) n.1769T>G c.1672T>G (p.Phe558Val) c.1501T>G (p.Phe501Val) c.1498T>G (p.Phe500Val) c.1648T>G (p.Phe550Val) c.1447T>G (p.Phe483Val) | |
10 | g.69382765T>A | CA376910292 | HK1 | c.1544T>A (p.Phe515Tyr) c.1460T>A (p.Phe487Tyr) c.1265+2670T>A (n.1265+2670T>A) c.1154T>A (p.Phe385Tyr) c.*1161T>A (n.*1161T>A) c.*807T>A (n.*807T>A) c.1424T>A (p.Phe475Tyr) n.2094T>A n.49T>A c.1541T>A (p.Phe514Tyr) c.1556T>A (p.Phe519Tyr) c.*1432T>A (n.*1432T>A) c.1508T>A (p.Phe503Tyr) n.1770T>A c.1673T>A (p.Phe558Tyr) c.1502T>A (p.Phe501Tyr) c.1499T>A (p.Phe500Tyr) c.1649T>A (p.Phe550Tyr) c.1448T>A (p.Phe483Tyr) | |
10 | g.69382765T>C | CA376910294 | HK1 | c.1544T>C (p.Phe515Ser) c.1460T>C (p.Phe487Ser) c.1265+2670T>C (n.1265+2670T>C) c.1154T>C (p.Phe385Ser) c.*1161T>C (n.*1161T>C) c.*807T>C (n.*807T>C) c.1424T>C (p.Phe475Ser) n.2094T>C n.49T>C c.1541T>C (p.Phe514Ser) c.1556T>C (p.Phe519Ser) c.*1432T>C (n.*1432T>C) c.1508T>C (p.Phe503Ser) n.1770T>C c.1673T>C (p.Phe558Ser) c.1502T>C (p.Phe501Ser) c.1499T>C (p.Phe500Ser) c.1649T>C (p.Phe550Ser) c.1448T>C (p.Phe483Ser) | |
10 | g.69382765T>G | CA376910296 | HK1 | c.1544T>G (p.Phe515Cys) c.1460T>G (p.Phe487Cys) c.1265+2670T>G (n.1265+2670T>G) c.1154T>G (p.Phe385Cys) c.*1161T>G (n.*1161T>G) c.*807T>G (n.*807T>G) c.1424T>G (p.Phe475Cys) n.2094T>G n.49T>G c.1541T>G (p.Phe514Cys) c.1556T>G (p.Phe519Cys) c.*1432T>G (n.*1432T>G) c.1508T>G (p.Phe503Cys) n.1770T>G c.1673T>G (p.Phe558Cys) c.1502T>G (p.Phe501Cys) c.1499T>G (p.Phe500Cys) c.1649T>G (p.Phe550Cys) c.1448T>G (p.Phe483Cys) |