Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155291871_155291891del | CA2648267826 | PKLR | c.1487_1507del (p.Val496_Ala502del) c.1394_1414del (p.Val465_Ala471del) c.1646_1666del (p.Val549_Ala555del) c.1295_1315del (p.Val432_Ala438del) | gnomAD v4 |
1 | g.155291887A>C | CA342751240 | PKLR | c.1487T>G (p.Val496Gly) c.1394T>G (p.Val465Gly) c.1646T>G (p.Val549Gly) c.1295T>G (p.Val432Gly) | |
1 | g.155291887A>G | CA342751241 | PKLR | c.1487T>C (p.Val496Ala) c.1394T>C (p.Val465Ala) c.1646T>C (p.Val549Ala) c.1295T>C (p.Val432Ala) | |
1 | g.155291887A>T | CA342751242 | PKLR | c.1487T>A (p.Val496Asp) c.1394T>A (p.Val465Asp) c.1646T>A (p.Val549Asp) c.1295T>A (p.Val432Asp) | |
1 | g.155291888C>A | CA342751245 | PKLR | c.1486G>T (p.Val496Phe) c.1393G>T (p.Val465Phe) c.1645G>T (p.Val549Phe) c.1294G>T (p.Val432Phe) | |
1 | g.155291888C>G | CA342751246 | PKLR | c.1486G>C (p.Val496Leu) c.1393G>C (p.Val465Leu) c.1645G>C (p.Val549Leu) c.1294G>C (p.Val432Leu) | |
1 | g.155291888C>T | CA342751247 | PKLR | c.1486G>A (p.Val496Ile) c.1393G>A (p.Val465Ile) c.1645G>A (p.Val549Ile) c.1294G>A (p.Val432Ile) | |
1 | g.155291889A>C | CA421020204 | PKLR | c.1485T>G (p.Ala495=) c.1392T>G (p.Ala464=) c.1644T>G (p.Ala548=) c.1293T>G (p.Ala431=) | |
1 | g.155291889A>G | CA421020205 | PKLR | c.1485T>C (p.Ala495=) c.1392T>C (p.Ala464=) c.1644T>C (p.Ala548=) c.1293T>C (p.Ala431=) | |
1 | g.155291889A>T | CA421020206 | PKLR | c.1485T>A (p.Ala495=) c.1392T>A (p.Ala464=) c.1644T>A (p.Ala548=) c.1293T>A (p.Ala431=) | |
1 | g.155291890G>A | CA1143983 | PKLR | c.1484C>T (p.Ala495Val) c.1391C>T (p.Ala464Val) c.1643C>T (p.Ala548Val) c.1292C>T (p.Ala431Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291890G>C | CA342751251 | PKLR | c.1484C>G (p.Ala495Gly) c.1391C>G (p.Ala464Gly) c.1643C>G (p.Ala548Gly) c.1292C>G (p.Ala431Gly) | |
1 | g.155291890G= | CA1141812539 | PKLR | c.1484C= (p.Ala495=) c.1391C= (p.Ala464=) c.1643C= (p.Ala548=) c.1292C= (p.Ala431=) | |
1 | g.155291890G>T | CA342751249 | PKLR | c.1484C>A (p.Ala495Asp) c.1391C>A (p.Ala464Asp) c.1643C>A (p.Ala548Asp) c.1292C>A (p.Ala431Asp) | |
1 | g.155291891C>A | CA342751256 | PKLR | c.1483G>T (p.Ala495Ser) c.1390G>T (p.Ala464Ser) c.1642G>T (p.Ala548Ser) c.1291G>T (p.Ala431Ser) | gnomAD v4 |
1 | g.155291891C>G | CA342751253 | PKLR | c.1483G>C (p.Ala495Pro) c.1390G>C (p.Ala464Pro) c.1642G>C (p.Ala548Pro) c.1291G>C (p.Ala431Pro) | |
1 | g.155291891C>T | CA342751255 | PKLR | c.1483G>A (p.Ala495Thr) c.1390G>A (p.Ala464Thr) c.1642G>A (p.Ala548Thr) c.1291G>A (p.Ala431Thr) | ClinVar gnomAD v4 |
1 | g.155291892A>C | CA342751258 | PKLR | c.1482T>G (p.Ile494Met) c.1389T>G (p.Ile463Met) c.1641T>G (p.Ile547Met) c.1290T>G (p.Ile430Met) | |
1 | g.155291892A>G | CA421020208 | PKLR | c.1482T>C (p.Ile494=) c.1389T>C (p.Ile463=) c.1641T>C (p.Ile547=) c.1290T>C (p.Ile430=) | |
1 | g.155291892A>T | CA421020207 | PKLR | c.1482T>A (p.Ile494=) c.1389T>A (p.Ile463=) c.1641T>A (p.Ile547=) c.1290T>A (p.Ile430=) | |
1 | g.155291893A= | CA2481225430 | PKLR | c.1481T= (p.Ile494=) c.1388T= (p.Ile463=) c.1640T= (p.Ile547=) c.1289T= (p.Ile430=) | |
1 | g.155291893A>C | CA342751261 | PKLR | c.1481T>G (p.Ile494Ser) c.1388T>G (p.Ile463Ser) c.1640T>G (p.Ile547Ser) c.1289T>G (p.Ile430Ser) | |
1 | g.155291893A>G | CA342751262 | PKLR | c.1481T>C (p.Ile494Thr) c.1388T>C (p.Ile463Thr) c.1640T>C (p.Ile547Thr) c.1289T>C (p.Ile430Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291893A>T | CA342751264 | PKLR | c.1481T>A (p.Ile494Asn) c.1388T>A (p.Ile463Asn) c.1640T>A (p.Ile547Asn) c.1289T>A (p.Ile430Asn) | |
1 | g.155291894T>A | CA342751267 | PKLR | c.1480A>T (p.Ile494Phe) c.1387A>T (p.Ile463Phe) c.1639A>T (p.Ile547Phe) c.1288A>T (p.Ile430Phe) | |
1 | g.155291894T>C | CA342751268 | PKLR | c.1480A>G (p.Ile494Val) c.1387A>G (p.Ile463Val) c.1639A>G (p.Ile547Val) c.1288A>G (p.Ile430Val) | |
1 | g.155291894T>G | CA342751270 | PKLR | c.1480A>C (p.Ile494Leu) c.1387A>C (p.Ile463Leu) c.1639A>C (p.Ile547Leu) c.1288A>C (p.Ile430Leu) | |
1 | g.155291895G>A | CA421020209 | PKLR | c.1479C>T (p.Val493=) c.1386C>T (p.Val462=) c.1638C>T (p.Val546=) c.1287C>T (p.Val429=) | |
1 | g.155291895G>C | CA421020211 | PKLR | c.1479C>G (p.Val493=) c.1386C>G (p.Val462=) c.1638C>G (p.Val546=) c.1287C>G (p.Val429=) | |
1 | g.155291895G>T | CA421020210 | PKLR | c.1479C>A (p.Val493=) c.1386C>A (p.Val462=) c.1638C>A (p.Val546=) c.1287C>A (p.Val429=) | |
1 | g.155291896A= | CA1149119385 | PKLR | c.1478T= (p.Val493=) c.1385T= (p.Val462=) c.1637T= (p.Val546=) c.1286T= (p.Val429=) | |
1 | g.155291896A>C | CA342751273 | PKLR | c.1478T>G (p.Val493Gly) c.1385T>G (p.Val462Gly) c.1637T>G (p.Val546Gly) c.1286T>G (p.Val429Gly) | |
1 | g.155291896A>G | CA342751274 | PKLR | c.1478T>C (p.Val493Ala) c.1385T>C (p.Val462Ala) c.1637T>C (p.Val546Ala) c.1286T>C (p.Val429Ala) | |
1 | g.155291896A>T | CA1143984 | PKLR | c.1478T>A (p.Val493Asp) c.1385T>A (p.Val462Asp) c.1637T>A (p.Val546Asp) c.1286T>A (p.Val429Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291897C>A | CA342751282 | PKLR | c.1477G>T (p.Val493Phe) c.1384G>T (p.Val462Phe) c.1636G>T (p.Val546Phe) c.1285G>T (p.Val429Phe) | |
1 | g.155291897C= | CA2481225431 | PKLR | c.1477G= (p.Val493=) c.1384G= (p.Val462=) c.1636G= (p.Val546=) c.1285G= (p.Val429=) | |
1 | g.155291897C>G | CA342751278 | PKLR | c.1477G>C (p.Val493Leu) c.1384G>C (p.Val462Leu) c.1636G>C (p.Val546Leu) c.1285G>C (p.Val429Leu) | |
1 | g.155291897C>T | CA342751280 | PKLR | c.1477G>A (p.Val493Ile) c.1384G>A (p.Val462Ile) c.1636G>A (p.Val546Ile) c.1285G>A (p.Val429Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291898T>A | CA1143986 | PKLR | c.1476A>T (p.Ala492=) c.1383A>T (p.Ala461=) c.1635A>T (p.Ala545=) c.1284A>T (p.Ala428=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291898T>C | CA1143985 | PKLR | c.1476A>G (p.Ala492=) c.1383A>G (p.Ala461=) c.1635A>G (p.Ala545=) c.1284A>G (p.Ala428=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291898T>G | CA421020212 | PKLR | c.1476A>C (p.Ala492=) c.1383A>C (p.Ala461=) c.1635A>C (p.Ala545=) c.1284A>C (p.Ala428=) | |
1 | g.155291898T= | CA2481225432 | PKLR | c.1476A= (p.Ala492=) c.1383A= (p.Ala461=) c.1635A= (p.Ala545=) c.1284A= (p.Ala428=) | |
1 | g.155291899G>A | CA342751286 | PKLR | c.1475C>T (p.Ala492Val) c.1382C>T (p.Ala461Val) c.1634C>T (p.Ala545Val) c.1283C>T (p.Ala428Val) | |
1 | g.155291899G>C | CA342751287 | PKLR | c.1475C>G (p.Ala492Gly) c.1382C>G (p.Ala461Gly) c.1634C>G (p.Ala545Gly) c.1283C>G (p.Ala428Gly) | |
1 | g.155291899G= | CA2481225433 | PKLR | c.1475C= (p.Ala492=) c.1382C= (p.Ala461=) c.1634C= (p.Ala545=) c.1283C= (p.Ala428=) | |
1 | g.155291899G>T | CA342751289 | PKLR | c.1475C>A (p.Ala492Glu) c.1382C>A (p.Ala461Glu) c.1634C>A (p.Ala545Glu) c.1283C>A (p.Ala428Glu) | dbSNP gnomAD v4 |
1 | g.155291900C>A | CA342751292 | PKLR | c.1474G>T (p.Ala492Ser) c.1381G>T (p.Ala461Ser) c.1633G>T (p.Ala545Ser) c.1282G>T (p.Ala428Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291900C= | CA2481225434 | PKLR | c.1474G= (p.Ala492=) c.1381G= (p.Ala461=) c.1633G= (p.Ala545=) c.1282G= (p.Ala428=) | |
1 | g.155291900C>G | CA342751293 | PKLR | c.1474G>C (p.Ala492Pro) c.1381G>C (p.Ala461Pro) c.1633G>C (p.Ala545Pro) c.1282G>C (p.Ala428Pro) | |
1 | g.155291900C>T | CA342751295 | PKLR | c.1474G>A (p.Ala492Thr) c.1381G>A (p.Ala461Thr) c.1633G>A (p.Ala545Thr) c.1282G>A (p.Ala428Thr) | |
1 | g.155291901T>A | CA421020213 | PKLR | c.1473A>T (p.Ala491=) c.1380A>T (p.Ala460=) c.1632A>T (p.Ala544=) c.1281A>T (p.Ala427=) | |
1 | g.155291901T>C | CA421020214 | PKLR | c.1473A>G (p.Ala491=) c.1380A>G (p.Ala460=) c.1632A>G (p.Ala544=) c.1281A>G (p.Ala427=) | |
1 | g.155291901T>G | CA421020215 | PKLR | c.1473A>C (p.Ala491=) c.1380A>C (p.Ala460=) c.1632A>C (p.Ala544=) c.1281A>C (p.Ala427=) | |
1 | g.155291902G>A | CA342751298 | PKLR | c.1472C>T (p.Ala491Val) c.1379C>T (p.Ala460Val) c.1631C>T (p.Ala544Val) c.1280C>T (p.Ala427Val) | |
1 | g.155291902G>C | CA342751299 | PKLR | c.1472C>G (p.Ala491Gly) c.1379C>G (p.Ala460Gly) c.1631C>G (p.Ala544Gly) c.1280C>G (p.Ala427Gly) | |
1 | g.155291902G>T | CA342751301 | PKLR | c.1472C>A (p.Ala491Glu) c.1379C>A (p.Ala460Glu) c.1631C>A (p.Ala544Glu) c.1280C>A (p.Ala427Glu) | |
1 | g.155291903C>A | CA342751306 | PKLR | c.1471G>T (p.Ala491Ser) c.1378G>T (p.Ala460Ser) c.1630G>T (p.Ala544Ser) c.1279G>T (p.Ala427Ser) | |
1 | g.155291903C>G | CA342751308 | PKLR | c.1471G>C (p.Ala491Pro) c.1378G>C (p.Ala460Pro) c.1630G>C (p.Ala544Pro) c.1279G>C (p.Ala427Pro) | |
1 | g.155291903C>T | CA342751304 | PKLR | c.1471G>A (p.Ala491Thr) c.1378G>A (p.Ala460Thr) c.1630G>A (p.Ala544Thr) c.1279G>A (p.Ala427Thr) | |
1 | g.155291904C>A | CA421020216 | PKLR | c.1470G>T (p.Arg490=) c.1377G>T (p.Arg459=) c.1629G>T (p.Arg543=) c.1278G>T (p.Arg426=) | |
1 | g.155291904C>G | CA421020217 | PKLR | c.1470G>C (p.Arg490=) c.1377G>C (p.Arg459=) c.1629G>C (p.Arg543=) c.1278G>C (p.Arg426=) | |
1 | g.155291904C>T | CA421020218 | PKLR | c.1470G>A (p.Arg490=) c.1377G>A (p.Arg459=) c.1629G>A (p.Arg543=) c.1278G>A (p.Arg426=) | |
1 | g.155291905C>A | CA1143988 | PKLR | c.1469G>T (p.Arg490Leu) c.1376G>T (p.Arg459Leu) c.1628G>T (p.Arg543Leu) c.1277G>T (p.Arg426Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291905C= | CA1148297382 | PKLR | c.1469G= (p.Arg490=) c.1376G= (p.Arg459=) c.1628G= (p.Arg543=) c.1277G= (p.Arg426=) | |
1 | g.155291905C>G | CA342751311 | PKLR | c.1469G>C (p.Arg490Pro) c.1376G>C (p.Arg459Pro) c.1628G>C (p.Arg543Pro) c.1277G>C (p.Arg426Pro) | |
1 | g.155291905C>T | CA1143987 | PKLR | c.1469G>A (p.Arg490Gln) c.1376G>A (p.Arg459Gln) c.1628G>A (p.Arg543Gln) c.1277G>A (p.Arg426Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155291906G>A | CA1143989 | PKLR | c.1468C>T (p.Arg490Trp) c.1375C>T (p.Arg459Trp) c.1627C>T (p.Arg543Trp) c.1276C>T (p.Arg426Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291906G>C | CA342751315 | PKLR | c.1468C>G (p.Arg490Gly) c.1375C>G (p.Arg459Gly) c.1627C>G (p.Arg543Gly) c.1276C>G (p.Arg426Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291906G= | CA1143397580 | PKLR | c.1468C= (p.Arg490=) c.1375C= (p.Arg459=) c.1627C= (p.Arg543=) c.1276C= (p.Arg426=) | |
1 | g.155291906G>T | CA421020220 | PKLR | c.1468C>A (p.Arg490=) c.1375C>A (p.Arg459=) c.1627C>A (p.Arg543=) c.1276C>A (p.Arg426=) | |
1 | g.155291907A>C | CA421020221 | PKLR | c.1467T>G (p.Pro489=) c.1374T>G (p.Pro458=) c.1626T>G (p.Pro542=) c.1275T>G (p.Pro425=) | |
1 | g.155291907A>G | CA421020222 | PKLR | c.1467T>C (p.Pro489=) c.1374T>C (p.Pro458=) c.1626T>C (p.Pro542=) c.1275T>C (p.Pro425=) | gnomAD v4 |
1 | g.155291907A>T | CA421020223 | PKLR | c.1467T>A (p.Pro489=) c.1374T>A (p.Pro458=) c.1626T>A (p.Pro542=) c.1275T>A (p.Pro425=) | |
1 | g.155291908G>A | CA342751319 | PKLR | c.1466C>T (p.Pro489Leu) c.1373C>T (p.Pro458Leu) c.1625C>T (p.Pro542Leu) c.1274C>T (p.Pro425Leu) | |
1 | g.155291908G>C | CA342751320 | PKLR | c.1466C>G (p.Pro489Arg) c.1373C>G (p.Pro458Arg) c.1625C>G (p.Pro542Arg) c.1274C>G (p.Pro425Arg) | |
1 | g.155291908G>T | CA342751322 | PKLR | c.1466C>A (p.Pro489His) c.1373C>A (p.Pro458His) c.1625C>A (p.Pro542His) c.1274C>A (p.Pro425His) | gnomAD v4 |
1 | g.155291909G>A | CA342751325 | PKLR | c.1465C>T (p.Pro489Ser) c.1372C>T (p.Pro458Ser) c.1624C>T (p.Pro542Ser) c.1273C>T (p.Pro425Ser) | gnomAD v4 |
1 | g.155291909G>C | CA342751326 | PKLR | c.1465C>G (p.Pro489Ala) c.1372C>G (p.Pro458Ala) c.1624C>G (p.Pro542Ala) c.1273C>G (p.Pro425Ala) | |
1 | g.155291909G>T | CA342751328 | PKLR | c.1465C>A (p.Pro489Thr) c.1372C>A (p.Pro458Thr) c.1624C>A (p.Pro542Thr) c.1273C>A (p.Pro425Thr) | |
1 | g.155291910T>A | CA421020225 | PKLR | c.1464A>T (p.Arg488=) c.1371A>T (p.Arg457=) c.1623A>T (p.Arg541=) c.1272A>T (p.Arg424=) | |
1 | g.155291910T>C | CA421020226 | PKLR | c.1464A>G (p.Arg488=) c.1371A>G (p.Arg457=) c.1623A>G (p.Arg541=) c.1272A>G (p.Arg424=) | |
1 | g.155291910T>G | CA421020227 | PKLR | c.1464A>C (p.Arg488=) c.1371A>C (p.Arg457=) c.1623A>C (p.Arg541=) c.1272A>C (p.Arg424=) | |
1 | g.155291911C>A | CA342751330 | PKLR | c.1463G>T (p.Arg488Leu) c.1370G>T (p.Arg457Leu) c.1622G>T (p.Arg541Leu) c.1271G>T (p.Arg424Leu) | |
1 | g.155291911C= | CA1143647237 | PKLR | c.1463G= (p.Arg488=) c.1370G= (p.Arg457=) c.1622G= (p.Arg541=) c.1271G= (p.Arg424=) | |
1 | g.155291911C>G | CA342751332 | PKLR | c.1463G>C (p.Arg488Pro) c.1370G>C (p.Arg457Pro) c.1622G>C (p.Arg541Pro) c.1271G>C (p.Arg424Pro) | |
1 | g.155291911C>T | CA1143990 | PKLR | c.1463G>A (p.Arg488Gln) c.1370G>A (p.Arg457Gln) c.1622G>A (p.Arg541Gln) c.1271G>A (p.Arg424Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291912G>A | CA30900356 | PKLR | c.1462C>T (p.Arg488Ter) c.1369C>T (p.Arg457Ter) c.1621C>T (p.Arg541Ter) c.1270C>T (p.Arg424Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291912G>C | CA342751336 | PKLR | c.1462C>G (p.Arg488Gly) c.1369C>G (p.Arg457Gly) c.1621C>G (p.Arg541Gly) c.1270C>G (p.Arg424Gly) | |
1 | g.155291912G= | CA2481225435 | PKLR | c.1462C= (p.Arg488=) c.1369C= (p.Arg457=) c.1621C= (p.Arg541=) c.1270C= (p.Arg424=) | |
1 | g.155291912G>T | CA421020231 | PKLR | c.1462C>A (p.Arg488=) c.1369C>A (p.Arg457=) c.1621C>A (p.Arg541=) c.1270C>A (p.Arg424=) | |
1 | g.155291913G>A | CA421020232 | PKLR | c.1461C>T (p.Tyr487=) c.1368C>T (p.Tyr456=) c.1620C>T (p.Tyr540=) c.1269C>T (p.Tyr423=) | |
1 | g.155291913G>C | CA342751339 | PKLR | c.1461C>G (p.Tyr487Ter) c.1368C>G (p.Tyr456Ter) c.1620C>G (p.Tyr540Ter) c.1269C>G (p.Tyr423Ter) | |
1 | g.155291913G>T | CA342751341 | PKLR | c.1461C>A (p.Tyr487Ter) c.1368C>A (p.Tyr456Ter) c.1620C>A (p.Tyr540Ter) c.1269C>A (p.Tyr423Ter) | |
1 | g.155291914del | CA2746210388 | PKLR | c.1460del (p.Tyr487SerfsTer?) c.1367del (p.Tyr456SerfsTer?) c.1619del (p.Tyr540SerfsTer?) c.1268del (p.Tyr423SerfsTer?) | |
1 | g.155291914T>A | CA342751343 | PKLR | c.1460A>T (p.Tyr487Phe) c.1367A>T (p.Tyr456Phe) c.1619A>T (p.Tyr540Phe) c.1268A>T (p.Tyr423Phe) | |
1 | g.155291914T>C | CA342751345 | PKLR | c.1460A>G (p.Tyr487Cys) c.1367A>G (p.Tyr456Cys) c.1619A>G (p.Tyr540Cys) c.1268A>G (p.Tyr423Cys) | |
1 | g.155291914T>G | CA342751347 | PKLR | c.1460A>C (p.Tyr487Ser) c.1367A>C (p.Tyr456Ser) c.1619A>C (p.Tyr540Ser) c.1268A>C (p.Tyr423Ser) | |
1 | g.155291915A>C | CA342751350 | PKLR | c.1459T>G (p.Tyr487Asp) c.1366T>G (p.Tyr456Asp) c.1618T>G (p.Tyr540Asp) c.1267T>G (p.Tyr423Asp) | |
1 | g.155291915A>G | CA342751352 | PKLR | c.1459T>C (p.Tyr487His) c.1366T>C (p.Tyr456His) c.1618T>C (p.Tyr540His) c.1267T>C (p.Tyr423His) | |
1 | g.155291915A>T | CA342751353 | PKLR | c.1459T>A (p.Tyr487Asn) c.1366T>A (p.Tyr456Asn) c.1618T>A (p.Tyr540Asn) c.1267T>A (p.Tyr423Asn) | |
1 | g.155291916C>A | CA30900367 | PKLR | c.1458G>T (p.Arg486=) c.1365G>T (p.Arg455=) c.1617G>T (p.Arg539=) c.1266G>T (p.Arg422=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291916C= | CA2481225436 | PKLR | c.1458G= (p.Arg486=) c.1365G= (p.Arg455=) c.1617G= (p.Arg539=) c.1266G= (p.Arg422=) | |
1 | g.155291916C>G | CA421020237 | PKLR | c.1458G>C (p.Arg486=) c.1365G>C (p.Arg455=) c.1617G>C (p.Arg539=) c.1266G>C (p.Arg422=) | |
1 | g.155291916C>T | CA421020236 | PKLR | c.1458G>A (p.Arg486=) c.1365G>A (p.Arg455=) c.1617G>A (p.Arg539=) c.1266G>A (p.Arg422=) | dbSNP gnomAD v2 |
1 | g.155291917C>A | CA342751356 | PKLR | c.1457G>T (p.Arg486Leu) c.1364G>T (p.Arg455Leu) c.1616G>T (p.Arg539Leu) c.1265G>T (p.Arg422Leu) | |
1 | g.155291917C= | CA2481225437 | PKLR | c.1457G= (p.Arg486=) c.1364G= (p.Arg455=) c.1616G= (p.Arg539=) c.1265G= (p.Arg422=) | |
1 | g.155291917C>G | CA342751358 | PKLR | c.1457G>C (p.Arg486Pro) c.1364G>C (p.Arg455Pro) c.1616G>C (p.Arg539Pro) c.1265G>C (p.Arg422Pro) | |
1 | g.155291917C>T | CA1143991 | PKLR | c.1457G>A (p.Arg486Gln) c.1364G>A (p.Arg455Gln) c.1616G>A (p.Arg539Gln) c.1265G>A (p.Arg422Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155291918G>A | CA215080 | PKLR | c.1456C>T (p.Arg486Trp) c.1363C>T (p.Arg455Trp) c.1615C>T (p.Arg539Trp) c.1264C>T (p.Arg422Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291918G>C | CA342751361 | PKLR | c.1456C>G (p.Arg486Gly) c.1363C>G (p.Arg455Gly) c.1615C>G (p.Arg539Gly) c.1264C>G (p.Arg422Gly) | |
1 | g.155291918G= | CA1141509128 | PKLR | c.1456C= (p.Arg486=) c.1363C= (p.Arg455=) c.1615C= (p.Arg539=) c.1264C= (p.Arg422=) | |
1 | g.155291918G>T | CA421020239 | PKLR | c.1456C>A (p.Arg486=) c.1363C>A (p.Arg455=) c.1615C>A (p.Arg539=) c.1264C>A (p.Arg422=) | |
1 | g.155291919A>C | CA421020242 | PKLR | c.1455T>G (p.Ser485=) c.1362T>G (p.Ser454=) c.1614T>G (p.Ser538=) c.1263T>G (p.Ser421=) | |
1 | g.155291919A>G | CA421020241 | PKLR | c.1455T>C (p.Ser485=) c.1362T>C (p.Ser454=) c.1614T>C (p.Ser538=) c.1263T>C (p.Ser421=) | |
1 | g.155291919A>T | CA421020240 | PKLR | c.1455T>A (p.Ser485=) c.1362T>A (p.Ser454=) c.1614T>A (p.Ser538=) c.1263T>A (p.Ser421=) | |
1 | g.155291920G>A | CA342751365 | PKLR | c.1454C>T (p.Ser485Phe) c.1361C>T (p.Ser454Phe) c.1613C>T (p.Ser538Phe) c.1262C>T (p.Ser421Phe) | |
1 | g.155291920G>C | CA342751367 | PKLR | c.1454C>G (p.Ser485Cys) c.1361C>G (p.Ser454Cys) c.1613C>G (p.Ser538Cys) c.1262C>G (p.Ser421Cys) | |
1 | g.155291920G>T | CA342751363 | PKLR | c.1454C>A (p.Ser485Tyr) c.1361C>A (p.Ser454Tyr) c.1613C>A (p.Ser538Tyr) c.1262C>A (p.Ser421Tyr) | |
1 | g.155291921A>C | CA342751371 | PKLR | c.1453T>G (p.Ser485Ala) c.1360T>G (p.Ser454Ala) c.1612T>G (p.Ser538Ala) c.1261T>G (p.Ser421Ala) | |
1 | g.155291921A>G | CA342751370 | PKLR | c.1453T>C (p.Ser485Pro) c.1360T>C (p.Ser454Pro) c.1612T>C (p.Ser538Pro) c.1261T>C (p.Ser421Pro) | |
1 | g.155291921A>T | CA342751373 | PKLR | c.1453T>A (p.Ser485Thr) c.1360T>A (p.Ser454Thr) c.1612T>A (p.Ser538Thr) c.1261T>A (p.Ser421Thr) | |
1 | g.155291922C>A | CA421020244 | PKLR | c.1452G>T (p.Leu484=) c.1359G>T (p.Leu453=) c.1611G>T (p.Leu537=) c.1260G>T (p.Leu420=) | |
1 | g.155291922C>G | CA421020246 | PKLR | c.1452G>C (p.Leu484=) c.1359G>C (p.Leu453=) c.1611G>C (p.Leu537=) c.1260G>C (p.Leu420=) | |
1 | g.155291922C>T | CA421020245 | PKLR | c.1452G>A (p.Leu484=) c.1359G>A (p.Leu453=) c.1611G>A (p.Leu537=) c.1260G>A (p.Leu420=) | |
1 | g.155291923A>C | CA342751375 | PKLR | c.1451T>G (p.Leu484Arg) c.1358T>G (p.Leu453Arg) c.1610T>G (p.Leu537Arg) c.1259T>G (p.Leu420Arg) | |
1 | g.155291923A>G | CA342751378 | PKLR | c.1451T>C (p.Leu484Pro) c.1358T>C (p.Leu453Pro) c.1610T>C (p.Leu537Pro) c.1259T>C (p.Leu420Pro) | |
1 | g.155291923A>T | CA342751380 | PKLR | c.1451T>A (p.Leu484Gln) c.1358T>A (p.Leu453Gln) c.1610T>A (p.Leu537Gln) c.1259T>A (p.Leu420Gln) | |
1 | g.155291924G>A | CA421020248 | PKLR | c.1450C>T (p.Leu484=) c.1357C>T (p.Leu453=) c.1609C>T (p.Leu537=) c.1258C>T (p.Leu420=) | |
1 | g.155291924G>C | CA342751381 | PKLR | c.1450C>G (p.Leu484Val) c.1357C>G (p.Leu453Val) c.1609C>G (p.Leu537Val) c.1258C>G (p.Leu420Val) | |
1 | g.155291924G>T | CA342751383 | PKLR | c.1450C>A (p.Leu484Met) c.1357C>A (p.Leu453Met) c.1609C>A (p.Leu537Met) c.1258C>A (p.Leu420Met) | |
1 | g.155291925A= | CA2481225438 | PKLR | c.1449T= (p.Leu483=) c.1356T= (p.Leu452=) c.1608T= (p.Leu536=) c.1257T= (p.Leu419=) | |
1 | g.155291925A>C | CA1143992 | PKLR | c.1449T>G (p.Leu483=) c.1356T>G (p.Leu452=) c.1608T>G (p.Leu536=) c.1257T>G (p.Leu419=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291925A>G | CA421020249 | PKLR | c.1449T>C (p.Leu483=) c.1356T>C (p.Leu452=) c.1608T>C (p.Leu536=) c.1257T>C (p.Leu419=) | |
1 | g.155291925A>T | CA421020250 | PKLR | c.1449T>A (p.Leu483=) c.1356T>A (p.Leu452=) c.1608T>A (p.Leu536=) c.1257T>A (p.Leu419=) | |
1 | g.155291926A>C | CA342751386 | PKLR | c.1448T>G (p.Leu483Arg) c.1355T>G (p.Leu452Arg) c.1607T>G (p.Leu536Arg) c.1256T>G (p.Leu419Arg) | |
1 | g.155291926A>G | CA342751387 | PKLR | c.1448T>C (p.Leu483Pro) c.1355T>C (p.Leu452Pro) c.1607T>C (p.Leu536Pro) c.1256T>C (p.Leu419Pro) | |
1 | g.155291926A>T | CA342751388 | PKLR | c.1448T>A (p.Leu483His) c.1355T>A (p.Leu452His) c.1607T>A (p.Leu536His) c.1256T>A (p.Leu419His) | |
1 | g.155291927G>A | CA342751389 | PKLR | c.1447C>T (p.Leu483Phe) c.1354C>T (p.Leu452Phe) c.1606C>T (p.Leu536Phe) c.1255C>T (p.Leu419Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155291927G>C | CA342751390 | PKLR | c.1447C>G (p.Leu483Val) c.1354C>G (p.Leu452Val) c.1606C>G (p.Leu536Val) c.1255C>G (p.Leu419Val) | |
1 | g.155291927G= | CA2481225439 | PKLR | c.1447C= (p.Leu483=) c.1354C= (p.Leu452=) c.1606C= (p.Leu536=) c.1255C= (p.Leu419=) | |
1 | g.155291927G>T | CA342751391 | PKLR | c.1447C>A (p.Leu483Ile) c.1354C>A (p.Leu452Ile) c.1606C>A (p.Leu536Ile) c.1255C>A (p.Leu419Ile) | |
1 | g.155291928C>A | CA342751393 | PKLR | c.1446G>T (p.Gln482His) c.1353G>T (p.Gln451His) c.1605G>T (p.Gln535His) c.1254G>T (p.Gln418His) | |
1 | g.155291928C= | CA2481225440 | PKLR | c.1446G= (p.Gln482=) c.1353G= (p.Gln451=) c.1605G= (p.Gln535=) c.1254G= (p.Gln418=) | |
1 | g.155291928C>G | CA342751392 | PKLR | c.1446G>C (p.Gln482His) c.1353G>C (p.Gln451His) c.1605G>C (p.Gln535His) c.1254G>C (p.Gln418His) | |
1 | g.155291928C>T | CA1143993 | PKLR | c.1446G>A (p.Gln482=) c.1353G>A (p.Gln451=) c.1605G>A (p.Gln535=) c.1254G>A (p.Gln418=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291929T>A | CA342751394 | PKLR | c.1445A>T (p.Gln482Leu) c.1352A>T (p.Gln451Leu) c.1604A>T (p.Gln535Leu) c.1253A>T (p.Gln418Leu) | |
1 | g.155291929T>C | CA342751395 | PKLR | c.1445A>G (p.Gln482Arg) c.1352A>G (p.Gln451Arg) c.1604A>G (p.Gln535Arg) c.1253A>G (p.Gln418Arg) | gnomAD v4 |
1 | g.155291929T>G | CA342751396 | PKLR | c.1445A>C (p.Gln482Pro) c.1352A>C (p.Gln451Pro) c.1604A>C (p.Gln535Pro) c.1253A>C (p.Gln418Pro) | |
1 | g.155291930G>A | CA342751397 | PKLR | c.1444C>T (p.Gln482Ter) c.1351C>T (p.Gln451Ter) c.1603C>T (p.Gln535Ter) c.1252C>T (p.Gln418Ter) | COSMIC |
1 | g.155291930G>C | CA342751398 | PKLR | c.1444C>G (p.Gln482Glu) c.1351C>G (p.Gln451Glu) c.1603C>G (p.Gln535Glu) c.1252C>G (p.Gln418Glu) | |
1 | g.155291930G>T | CA342751399 | PKLR | c.1444C>A (p.Gln482Lys) c.1351C>A (p.Gln451Lys) c.1603C>A (p.Gln535Lys) c.1252C>A (p.Gln418Lys) | |
1 | g.155291931G>A | CA421020254 | PKLR | c.1443C>T (p.Ala481=) c.1350C>T (p.Ala450=) c.1602C>T (p.Ala534=) c.1251C>T (p.Ala417=) | |
1 | g.155291931G>C | CA421020255 | PKLR | c.1443C>G (p.Ala481=) c.1350C>G (p.Ala450=) c.1602C>G (p.Ala534=) c.1251C>G (p.Ala417=) | |
1 | g.155291931G>T | CA421020256 | PKLR | c.1443C>A (p.Ala481=) c.1350C>A (p.Ala450=) c.1602C>A (p.Ala534=) c.1251C>A (p.Ala417=) | |
1 | g.155291932G>A | CA1143994 | PKLR | c.1442C>T (p.Ala481Val) c.1349C>T (p.Ala450Val) c.1601C>T (p.Ala534Val) c.1250C>T (p.Ala417Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291932G>C | CA342751400 | PKLR | c.1442C>G (p.Ala481Gly) c.1349C>G (p.Ala450Gly) c.1601C>G (p.Ala534Gly) c.1250C>G (p.Ala417Gly) | |
1 | g.155291932G= | CA2481225441 | PKLR | c.1442C= (p.Ala481=) c.1349C= (p.Ala450=) c.1601C= (p.Ala534=) c.1250C= (p.Ala417=) | |
1 | g.155291932G>T | CA30900403 | PKLR | c.1442C>A (p.Ala481Asp) c.1349C>A (p.Ala450Asp) c.1601C>A (p.Ala534Asp) c.1250C>A (p.Ala417Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155291933C>A | CA342751401 | PKLR | c.1441G>T (p.Ala481Ser) c.1348G>T (p.Ala450Ser) c.1600G>T (p.Ala534Ser) c.1249G>T (p.Ala417Ser) | |
1 | g.155291933C>G | CA342751402 | PKLR | c.1441G>C (p.Ala481Pro) c.1348G>C (p.Ala450Pro) c.1600G>C (p.Ala534Pro) c.1249G>C (p.Ala417Pro) | |
1 | g.155291933C>T | CA342751403 | PKLR | c.1441G>A (p.Ala481Thr) c.1348G>A (p.Ala450Thr) c.1600G>A (p.Ala534Thr) c.1249G>A (p.Ala417Thr) | |
1 | g.155291934T>A | CA421020258 | PKLR | c.1440A>T (p.Ser480=) c.1347A>T (p.Ser449=) c.1599A>T (p.Ser533=) c.1248A>T (p.Ser416=) | |
1 | g.155291934T>C | CA421020259 | PKLR | c.1440A>G (p.Ser480=) c.1347A>G (p.Ser449=) c.1599A>G (p.Ser533=) c.1248A>G (p.Ser416=) | |
1 | g.155291934T>G | CA421020260 | PKLR | c.1440A>C (p.Ser480=) c.1347A>C (p.Ser449=) c.1599A>C (p.Ser533=) c.1248A>C (p.Ser416=) | |
1 | g.155291935G>A | CA342751406 | PKLR | c.1439C>T (p.Ser480Leu) c.1346C>T (p.Ser449Leu) c.1598C>T (p.Ser533Leu) c.1247C>T (p.Ser416Leu) | |
1 | g.155291935G>C | CA342751405 | PKLR | c.1439C>G (p.Ser480Ter) c.1346C>G (p.Ser449Ter) c.1598C>G (p.Ser533Ter) c.1247C>G (p.Ser416Ter) | |
1 | g.155291935G>T | CA342751404 | PKLR | c.1439C>A (p.Ser480Ter) c.1346C>A (p.Ser449Ter) c.1598C>A (p.Ser533Ter) c.1247C>A (p.Ser416Ter) | |
1 | g.155291936A>C | CA342751407 | PKLR | c.1438T>G (p.Ser480Ala) c.1345T>G (p.Ser449Ala) c.1597T>G (p.Ser533Ala) c.1246T>G (p.Ser416Ala) | |
1 | g.155291936A>G | CA342751408 | PKLR | c.1438T>C (p.Ser480Pro) c.1345T>C (p.Ser449Pro) c.1597T>C (p.Ser533Pro) c.1246T>C (p.Ser416Pro) | |
1 | g.155291936A>T | CA342751409 | PKLR | c.1438T>A (p.Ser480Thr) c.1345T>A (p.Ser449Thr) c.1597T>A (p.Ser533Thr) c.1246T>A (p.Ser416Thr) | |
1 | g.155291937G>A | CA421020262 | PKLR | c.1437C>T (p.Arg479=) c.1344C>T (p.Arg448=) c.1596C>T (p.Arg532=) c.1245C>T (p.Arg415=) | |
1 | g.155291937G>C | CA421020264 | PKLR | c.1437C>G (p.Arg479=) c.1344C>G (p.Arg448=) c.1596C>G (p.Arg532=) c.1245C>G (p.Arg415=) | |
1 | g.155291937G>T | CA421020263 | PKLR | c.1437C>A (p.Arg479=) c.1344C>A (p.Arg448=) c.1596C>A (p.Arg532=) c.1245C>A (p.Arg415=) | |
1 | g.155291938C>A | CA342751410 | PKLR | c.1437-1G>T (n.1437-1G>T) c.1344-1G>T (n.1344-1G>T) c.1596-1G>T (n.1596-1G>T) c.1245-1G>T (n.1245-1G>T) | |
1 | g.155291938C>G | CA342751411 | PKLR | c.1437-1G>C (n.1437-1G>C) c.1344-1G>C (n.1344-1G>C) c.1596-1G>C (n.1596-1G>C) c.1245-1G>C (n.1245-1G>C) | |
1 | g.155291938C>T | CA342751412 | PKLR | c.1437-1G>A (n.1437-1G>A) c.1344-1G>A (n.1344-1G>A) c.1596-1G>A (n.1596-1G>A) c.1245-1G>A (n.1245-1G>A) | |
1 | g.155291939T>A | CA342751413 | PKLR | c.1437-2A>T (n.1437-2A>T) c.1344-2A>T (n.1344-2A>T) c.1596-2A>T (n.1596-2A>T) c.1245-2A>T (n.1245-2A>T) | |
1 | g.155291939T>C | CA342751414 | PKLR | c.1437-2A>G (n.1437-2A>G) c.1344-2A>G (n.1344-2A>G) c.1596-2A>G (n.1596-2A>G) c.1245-2A>G (n.1245-2A>G) | |
1 | g.155291939T>G | CA342751415 | PKLR | c.1437-2A>C (n.1437-2A>C) c.1344-2A>C (n.1344-2A>C) c.1596-2A>C (n.1596-2A>C) c.1245-2A>C (n.1245-2A>C) | |
1 | g.155291940G>A | CA2573568252 | PKLR | c.1437-3C>T (n.1437-3C>T) c.1344-3C>T (n.1344-3C>T) c.1596-3C>T (n.1596-3C>T) c.1245-3C>T (n.1245-3C>T) | |
1 | g.155291941G>A | CA2531559495 | PKLR | c.1437-4C>T (n.1437-4C>T) c.1344-4C>T (n.1344-4C>T) c.1596-4C>T (n.1596-4C>T) c.1245-4C>T (n.1245-4C>T) | |
1 | g.155291941G= | CA2481225442 | PKLR | c.1437-4C= (n.1437-4C=) c.1344-4C= (n.1344-4C=) c.1596-4C= (n.1596-4C=) c.1245-4C= (n.1245-4C=) | |
1 | g.155291941G>T | CA526668890 | PKLR | c.1437-4C>A (n.1437-4C>A) c.1344-4C>A (n.1344-4C>A) c.1596-4C>A (n.1596-4C>A) c.1245-4C>A (n.1245-4C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291942A= | CA2481225443 | PKLR | c.1437-5T= (n.1437-5T=) c.1344-5T= (n.1344-5T=) c.1596-5T= (n.1596-5T=) c.1245-5T= (n.1245-5T=) | |
1 | g.155291942A>T | CA30900413 | PKLR | c.1437-5T>A (n.1437-5T>A) c.1344-5T>A (n.1344-5T>A) c.1596-5T>A (n.1596-5T>A) c.1245-5T>A (n.1245-5T>A) | dbSNP |
1 | g.155291943G>A | CA1143995 | PKLR | c.1437-6C>T (n.1437-6C>T) c.1344-6C>T (n.1344-6C>T) c.1596-6C>T (n.1596-6C>T) c.1245-6C>T (n.1245-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291943G= | CA2481225444 | PKLR | c.1437-6C= (n.1437-6C=) c.1344-6C= (n.1344-6C=) c.1596-6C= (n.1596-6C=) c.1245-6C= (n.1245-6C=) | |
1 | g.155291944G>A | CA30900418 | PKLR | c.1437-7C>T (n.1437-7C>T) c.1344-7C>T (n.1344-7C>T) c.1596-7C>T (n.1596-7C>T) c.1245-7C>T (n.1245-7C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291944G= | CA2481225445 | PKLR | c.1437-7C= (n.1437-7C=) c.1344-7C= (n.1344-7C=) c.1596-7C= (n.1596-7C=) c.1245-7C= (n.1245-7C=) | |
1 | g.155291946G>A | CA1143996 | PKLR | c.1437-9C>T (n.1437-9C>T) c.1344-9C>T (n.1344-9C>T) c.1596-9C>T (n.1596-9C>T) c.1245-9C>T (n.1245-9C>T) | dbSNP ExAC |
1 | g.155291946G>C | CA2648267915 | PKLR | c.1437-9C>G (n.1437-9C>G) c.1344-9C>G (n.1344-9C>G) c.1596-9C>G (n.1596-9C>G) c.1245-9C>G (n.1245-9C>G) | gnomAD v4 |
1 | g.155291946G= | CA2481225446 | PKLR | c.1437-9C= (n.1437-9C=) c.1344-9C= (n.1344-9C=) c.1596-9C= (n.1596-9C=) c.1245-9C= (n.1245-9C=) | |
1 | g.155291947G>A | CA526668891 | PKLR | c.1437-10C>T (n.1437-10C>T) c.1344-10C>T (n.1344-10C>T) c.1596-10C>T (n.1596-10C>T) c.1245-10C>T (n.1245-10C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291947G= | CA2481225447 | PKLR | c.1437-10C= (n.1437-10C=) c.1344-10C= (n.1344-10C=) c.1596-10C= (n.1596-10C=) c.1245-10C= (n.1245-10C=) | |
1 | g.155291948del | CA2532265136 | PKLR | c.1437-11del (n.1437-11del) c.1344-11del (n.1344-11del) c.1596-11del (n.1596-11del) c.1245-11del (n.1245-11del) | |
1 | g.155291948C>A | CA889656185 | PKLR | c.1437-11G>T (n.1437-11G>T) c.1344-11G>T (n.1344-11G>T) c.1596-11G>T (n.1596-11G>T) c.1245-11G>T (n.1245-11G>T) | dbSNP |
1 | g.155291948C= | CA2481225448 | PKLR | c.1437-11G= (n.1437-11G=) c.1344-11G= (n.1344-11G=) c.1596-11G= (n.1596-11G=) c.1245-11G= (n.1245-11G=) | |
1 | g.155291950G>A | CA2648267916 | PKLR | c.1437-13C>T (n.1437-13C>T) c.1344-13C>T (n.1344-13C>T) c.1596-13C>T (n.1596-13C>T) c.1245-13C>T (n.1245-13C>T) | gnomAD v4 |
1 | g.155291951A>G | CA2648267917 | PKLR | c.1437-14T>C (n.1437-14T>C) c.1344-14T>C (n.1344-14T>C) c.1596-14T>C (n.1596-14T>C) c.1245-14T>C (n.1245-14T>C) | gnomAD v4 |
1 | g.155291953A= | CA2481225449 | PKLR | c.1437-16T= (n.1437-16T=) c.1344-16T= (n.1344-16T=) c.1596-16T= (n.1596-16T=) c.1245-16T= (n.1245-16T=) | |
1 | g.155291953A>G | CA526668892 | PKLR | c.1437-16T>C (n.1437-16T>C) c.1344-16T>C (n.1344-16T>C) c.1596-16T>C (n.1596-16T>C) c.1245-16T>C (n.1245-16T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155291955G>C | CA1143997 | PKLR | c.1437-18C>G (n.1437-18C>G) c.1344-18C>G (n.1344-18C>G) c.1596-18C>G (n.1596-18C>G) c.1245-18C>G (n.1245-18C>G) | dbSNP ExAC |
1 | g.155291955G= | CA1143812973 | PKLR | c.1437-18C= (n.1437-18C=) c.1344-18C= (n.1344-18C=) c.1596-18C= (n.1596-18C=) c.1245-18C= (n.1245-18C=) | |
1 | g.155291956G= | CA2481225450 | PKLR | c.1437-19C= (n.1437-19C=) c.1344-19C= (n.1344-19C=) c.1596-19C= (n.1596-19C=) c.1245-19C= (n.1245-19C=) | |
1 | g.155291956G>T | CA1143998 | PKLR | c.1437-19C>A (n.1437-19C>A) c.1344-19C>A (n.1344-19C>A) c.1596-19C>A (n.1596-19C>A) c.1245-19C>A (n.1245-19C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291957T>C | CA2697498230 | PKLR | c.1437-20A>G (n.1437-20A>G) c.1344-20A>G (n.1344-20A>G) c.1596-20A>G (n.1596-20A>G) c.1245-20A>G (n.1245-20A>G) | dbSNP |
1 | g.155291958C>G | CA2573568254 | PKLR | c.1437-21G>C (n.1437-21G>C) c.1344-21G>C (n.1344-21G>C) c.1596-21G>C (n.1596-21G>C) c.1245-21G>C (n.1245-21G>C) | |
1 | g.155291959A= | CA1144035423 | PKLR | c.1437-22T= (n.1437-22T=) c.1344-22T= (n.1344-22T=) c.1596-22T= (n.1596-22T=) c.1245-22T= (n.1245-22T=) | |
1 | g.155291959A>G | CA2648267923 | PKLR | c.1437-22T>C (n.1437-22T>C) c.1344-22T>C (n.1344-22T>C) c.1596-22T>C (n.1596-22T>C) c.1245-22T>C (n.1245-22T>C) | dbSNP gnomAD v4 |
1 | g.155291959A>T | CA1143999 | PKLR | c.1437-22T>A (n.1437-22T>A) c.1344-22T>A (n.1344-22T>A) c.1596-22T>A (n.1596-22T>A) c.1245-22T>A (n.1245-22T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155291960G= | CA2481225451 | PKLR | c.1437-23C= (n.1437-23C=) c.1344-23C= (n.1344-23C=) c.1596-23C= (n.1596-23C=) c.1245-23C= (n.1245-23C=) | |
1 | g.155291960G>T | CA2481225452 | PKLR | c.1437-23C>A (n.1437-23C>A) c.1344-23C>A (n.1344-23C>A) c.1596-23C>A (n.1596-23C>A) c.1245-23C>A (n.1245-23C>A) | dbSNP |
1 | g.155291961C>T | CA2648267932 | PKLR | c.1437-24G>A (n.1437-24G>A) c.1344-24G>A (n.1344-24G>A) c.1596-24G>A (n.1596-24G>A) c.1245-24G>A (n.1245-24G>A) | gnomAD v4 |
1 | g.155291963C= | CA2481225453 | PKLR | c.1437-26G= (n.1437-26G=) c.1344-26G= (n.1344-26G=) c.1596-26G= (n.1596-26G=) c.1245-26G= (n.1245-26G=) | |
1 | g.155291963C>G | CA2648267938 | PKLR | c.1437-26G>C (n.1437-26G>C) c.1344-26G>C (n.1344-26G>C) c.1596-26G>C (n.1596-26G>C) c.1245-26G>C (n.1245-26G>C) | gnomAD v4 |
1 | g.155291963C>T | CA1144000 | PKLR | c.1437-26G>A (n.1437-26G>A) c.1344-26G>A (n.1344-26G>A) c.1596-26G>A (n.1596-26G>A) c.1245-26G>A (n.1245-26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291965G>A | CA30900437 | PKLR | c.1437-28C>T (n.1437-28C>T) c.1344-28C>T (n.1344-28C>T) c.1596-28C>T (n.1596-28C>T) c.1245-28C>T (n.1245-28C>T) | dbSNP |
1 | g.155291965G= | CA2481225454 | PKLR | c.1437-28C= (n.1437-28C=) c.1344-28C= (n.1344-28C=) c.1596-28C= (n.1596-28C=) c.1245-28C= (n.1245-28C=) | |
1 | g.155291965G>T | CA2648267941 | PKLR | c.1437-28C>A (n.1437-28C>A) c.1344-28C>A (n.1344-28C>A) c.1596-28C>A (n.1596-28C>A) c.1245-28C>A (n.1245-28C>A) | gnomAD v4 |
1 | g.155291968C>G | CA2697498232 | PKLR | c.1437-31G>C (n.1437-31G>C) c.1344-31G>C (n.1344-31G>C) c.1596-31G>C (n.1596-31G>C) c.1245-31G>C (n.1245-31G>C) | dbSNP |
1 | g.155291970G>A | CA2481225455 | PKLR | c.1437-33C>T (n.1437-33C>T) c.1344-33C>T (n.1344-33C>T) c.1596-33C>T (n.1596-33C>T) c.1245-33C>T (n.1245-33C>T) | dbSNP |
1 | g.155291970G= | CA2481225456 | PKLR | c.1437-33C= (n.1437-33C=) c.1344-33C= (n.1344-33C=) c.1596-33C= (n.1596-33C=) c.1245-33C= (n.1245-33C=) | |
1 | g.155291970G>T | CA2648267945 | PKLR | c.1437-33C>A (n.1437-33C>A) c.1344-33C>A (n.1344-33C>A) c.1596-33C>A (n.1596-33C>A) c.1245-33C>A (n.1245-33C>A) | gnomAD v4 |
1 | g.155291973A>C | CA2573916932 | PKLR | c.1437-36T>G (n.1437-36T>G) c.1344-36T>G (n.1344-36T>G) c.1596-36T>G (n.1596-36T>G) c.1245-36T>G (n.1245-36T>G) | gnomAD v4 |
1 | g.155291976A>T | CA2648267948 | PKLR | c.1437-39T>A (n.1437-39T>A) c.1344-39T>A (n.1344-39T>A) c.1596-39T>A (n.1596-39T>A) c.1245-39T>A (n.1245-39T>A) | gnomAD v4 |
1 | g.155291978_155291985del | CA2573916933 | PKLR | c.1437-46_1437-39del (n.1437-46_1437-39del) c.1344-46_1344-39del (n.1344-46_1344-39del) c.1596-46_1596-39del (n.1596-46_1596-39del) c.1245-46_1245-39del (n.1245-46_1245-39del) | gnomAD v4 |
1 | g.155291977A= | CA2481225457 | PKLR | c.1437-40T= (n.1437-40T=) c.1344-40T= (n.1344-40T=) c.1596-40T= (n.1596-40T=) c.1245-40T= (n.1245-40T=) | |
1 | g.155291977A>G | CA2481225458 | PKLR | c.1437-40T>C (n.1437-40T>C) c.1344-40T>C (n.1344-40T>C) c.1596-40T>C (n.1596-40T>C) c.1245-40T>C (n.1245-40T>C) | dbSNP |
1 | g.155291978G>A | CA2648267950 | PKLR | c.1437-41C>T (n.1437-41C>T) c.1344-41C>T (n.1344-41C>T) c.1596-41C>T (n.1596-41C>T) c.1245-41C>T (n.1245-41C>T) | gnomAD v4 |
1 | g.155291978G>T | CA2648267951 | PKLR | c.1437-41C>A (n.1437-41C>A) c.1344-41C>A (n.1344-41C>A) c.1596-41C>A (n.1596-41C>A) c.1245-41C>A (n.1245-41C>A) | gnomAD v4 |
1 | g.155291980G>A | CA889656196 | PKLR | c.1437-43C>T (n.1437-43C>T) c.1344-43C>T (n.1344-43C>T) c.1596-43C>T (n.1596-43C>T) c.1245-43C>T (n.1245-43C>T) | dbSNP |
1 | g.155291980G= | CA2481225459 | PKLR | c.1437-43C= (n.1437-43C=) c.1344-43C= (n.1344-43C=) c.1596-43C= (n.1596-43C=) c.1245-43C= (n.1245-43C=) | |
1 | g.155291980G>T | CA526668893 | PKLR | c.1437-43C>A (n.1437-43C>A) c.1344-43C>A (n.1344-43C>A) c.1596-43C>A (n.1596-43C>A) c.1245-43C>A (n.1245-43C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155291981G>T | CA2648267955 | PKLR | c.1437-44C>A (n.1437-44C>A) c.1344-44C>A (n.1344-44C>A) c.1596-44C>A (n.1596-44C>A) c.1245-44C>A (n.1245-44C>A) | gnomAD v4 |
1 | g.155291983G>A | CA2648267956 | PKLR | c.1437-46C>T (n.1437-46C>T) c.1344-46C>T (n.1344-46C>T) c.1596-46C>T (n.1596-46C>T) c.1245-46C>T (n.1245-46C>T) | gnomAD v4 |
1 | g.155291983G>T | CA2648267957 | PKLR | c.1437-46C>A (n.1437-46C>A) c.1344-46C>A (n.1344-46C>A) c.1596-46C>A (n.1596-46C>A) c.1245-46C>A (n.1245-46C>A) | gnomAD v4 |
1 | g.155291984A>C | CA2573916934 | PKLR | c.1437-47T>G (n.1437-47T>G) c.1344-47T>G (n.1344-47T>G) c.1596-47T>G (n.1596-47T>G) c.1245-47T>G (n.1245-47T>G) | |
1 | g.155291986del | CA2573916936 | PKLR | c.1437-49del (n.1437-49del) c.1344-49del (n.1344-49del) c.1596-49del (n.1596-49del) c.1245-49del (n.1245-49del) | |
1 | g.155291986C>A | CA2581683664 | PKLR | c.1437-49G>T (n.1437-49G>T) c.1344-49G>T (n.1344-49G>T) c.1596-49G>T (n.1596-49G>T) c.1245-49G>T (n.1245-49G>T) | gnomAD v4 |
1 | g.155291986C= | CA1139992747 | PKLR | c.1437-49G= (n.1437-49G=) c.1344-49G= (n.1344-49G=) c.1596-49G= (n.1596-49G=) c.1245-49G= (n.1245-49G=) | |
1 | g.155291986C>G | CA2581683662 | PKLR | c.1437-49G>C (n.1437-49G>C) c.1344-49G>C (n.1344-49G>C) c.1596-49G>C (n.1596-49G>C) c.1245-49G>C (n.1245-49G>C) | |
1 | g.155291986C>T | CA1144001 | PKLR | c.1437-49G>A (n.1437-49G>A) c.1344-49G>A (n.1344-49G>A) c.1596-49G>A (n.1596-49G>A) c.1245-49G>A (n.1245-49G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291987G>A | CA1144002 | PKLR | c.1437-50C>T (n.1437-50C>T) c.1344-50C>T (n.1344-50C>T) c.1596-50C>T (n.1596-50C>T) c.1245-50C>T (n.1245-50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155291987G= | CA1143605659 | PKLR | c.1437-50C= (n.1437-50C=) c.1344-50C= (n.1344-50C=) c.1596-50C= (n.1596-50C=) c.1245-50C= (n.1245-50C=) | |
1 | g.155291987G>T | CA2573916937 | PKLR | c.1437-50C>A (n.1437-50C>A) c.1344-50C>A (n.1344-50C>A) c.1596-50C>A (n.1596-50C>A) c.1245-50C>A (n.1245-50C>A) | gnomAD v4 |
1 | g.155291987_155291988delinsGA | CA2481225460 | PKLR | c.1437-51_1437-50delinsTC (n.1437-51_1437-50delinsTC) c.1344-51_1344-50delinsTC (n.1344-51_1344-50delinsTC) c.1596-51_1596-50delinsTC (n.1596-51_1596-50delinsTC) c.1245-51_1245-50delinsTC (n.1245-51_1245-50delinsTC) |