| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50086642dup | CA1139667544 | CLCN5 | c.1329dup (p.Asn444GlnfsTer2) c.579dup (p.Asn194GlnfsTer2) c.1119dup (p.Asn374GlnfsTer2) c.1616dup c.*504dup (n.*504dup) c.1179dup (p.Asn394GlnfsTer2) c.1341dup (p.Asn448GlnfsTer2) | ClinVar dbSNP |
| X | g.50086640C>A | CA413185677 | CLCN5 | c.1327C>A (p.Pro443Thr) c.577C>A (p.Pro193Thr) c.1117C>A (p.Pro373Thr) c.1614C>A c.*502C>A (n.*502C>A) c.1177C>A (p.Pro393Thr) c.1339C>A (p.Pro447Thr) | |
| X | g.50086640C>G | CA413185678 | CLCN5 | c.1327C>G (p.Pro443Ala) c.577C>G (p.Pro193Ala) c.1117C>G (p.Pro373Ala) c.1614C>G c.*502C>G (n.*502C>G) c.1177C>G (p.Pro393Ala) c.1339C>G (p.Pro447Ala) | |
| X | g.50086640C>T | CA413185679 | CLCN5 | c.1327C>T (p.Pro443Ser) c.577C>T (p.Pro193Ser) c.1117C>T (p.Pro373Ser) c.1614C>T c.*502C>T (n.*502C>T) c.1177C>T (p.Pro393Ser) c.1339C>T (p.Pro447Ser) | gnomAD v4 |
| X | g.50086641C>A | CA413185680 | CLCN5 | c.1328C>A (p.Pro443His) c.578C>A (p.Pro193His) c.1118C>A (p.Pro373His) c.1615C>A c.*503C>A (n.*503C>A) c.1178C>A (p.Pro393His) c.1340C>A (p.Pro447His) | |
| X | g.50086641C>G | CA413185681 | CLCN5 | c.1328C>G (p.Pro443Arg) c.578C>G (p.Pro193Arg) c.1118C>G (p.Pro373Arg) c.1615C>G c.*503C>G (n.*503C>G) c.1178C>G (p.Pro393Arg) c.1340C>G (p.Pro447Arg) | |
| X | g.50086641C>T | CA413185683 | CLCN5 | c.1328C>T (p.Pro443Leu) c.578C>T (p.Pro193Leu) c.1118C>T (p.Pro373Leu) c.1615C>T c.*503C>T (n.*503C>T) c.1178C>T (p.Pro393Leu) c.1340C>T (p.Pro447Leu) | gnomAD v4 |
| X | g.50086642C>A | CA516678313 | CLCN5 | c.1329C>A (p.Pro443=) c.579C>A (p.Pro193=) c.1119C>A (p.Pro373=) c.1616C>A c.*504C>A (n.*504C>A) c.1179C>A (p.Pro393=) c.1341C>A (p.Pro447=) | |
| X | g.50086642C>G | CA516678315 | CLCN5 | c.1329C>G (p.Pro443=) c.579C>G (p.Pro193=) c.1119C>G (p.Pro373=) c.1616C>G c.*504C>G (n.*504C>G) c.1179C>G (p.Pro393=) c.1341C>G (p.Pro447=) | |
| X | g.50086642C>T | CA516678316 | CLCN5 | c.1329C>T (p.Pro443=) c.579C>T (p.Pro193=) c.1119C>T (p.Pro373=) c.1616C>T c.*504C>T (n.*504C>T) c.1179C>T (p.Pro393=) c.1341C>T (p.Pro447=) | |
| X | g.50086643A>C | CA413185687 | CLCN5 | c.1330A>C (p.Asn444His) c.580A>C (p.Asn194His) c.1120A>C (p.Asn374His) c.1617A>C c.*505A>C (n.*505A>C) c.1180A>C (p.Asn394His) c.1342A>C (p.Asn448His) | |
| X | g.50086643A>G | CA413185689 | CLCN5 | c.1330A>G (p.Asn444Asp) c.580A>G (p.Asn194Asp) c.1120A>G (p.Asn374Asp) c.1617A>G c.*505A>G (n.*505A>G) c.1180A>G (p.Asn394Asp) c.1342A>G (p.Asn448Asp) | |
| X | g.50086643A>T | CA413185685 | CLCN5 | c.1330A>T (p.Asn444Tyr) c.580A>T (p.Asn194Tyr) c.1120A>T (p.Asn374Tyr) c.1617A>T c.*505A>T (n.*505A>T) c.1180A>T (p.Asn394Tyr) c.1342A>T (p.Asn448Tyr) | |
| X | g.50086644A= | CA2428768929 | CLCN5 | c.1331A= (p.Asn444=) c.581A= (p.Asn194=) c.1121A= (p.Asn374=) c.1618A= c.*506A= (n.*506A=) c.1181A= (p.Asn394=) c.1343A= (p.Asn448=) | |
| X | g.50086644A>C | CA413185691 | CLCN5 | c.1331A>C (p.Asn444Thr) c.581A>C (p.Asn194Thr) c.1121A>C (p.Asn374Thr) c.1618A>C c.*506A>C (n.*506A>C) c.1181A>C (p.Asn394Thr) c.1343A>C (p.Asn448Thr) | |
| X | g.50086644A>G | CA10413863 | CLCN5 | c.1331A>G (p.Asn444Ser) c.581A>G (p.Asn194Ser) c.1121A>G (p.Asn374Ser) c.1618A>G c.*506A>G (n.*506A>G) c.1181A>G (p.Asn394Ser) c.1343A>G (p.Asn448Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086644A>T | CA413185694 | CLCN5 | c.1331A>T (p.Asn444Ile) c.581A>T (p.Asn194Ile) c.1121A>T (p.Asn374Ile) c.1618A>T c.*506A>T (n.*506A>T) c.1181A>T (p.Asn394Ile) c.1343A>T (p.Asn448Ile) | |
| X | g.50086645T>A | CA413185696 | CLCN5 | c.1332T>A (p.Asn444Lys) c.582T>A (p.Asn194Lys) c.1122T>A (p.Asn374Lys) c.1619T>A c.*507T>A (n.*507T>A) c.1182T>A (p.Asn394Lys) c.1344T>A (p.Asn448Lys) | |
| X | g.50086645T>C | CA516678328 | CLCN5 | c.1332T>C (p.Asn444=) c.582T>C (p.Asn194=) c.1122T>C (p.Asn374=) c.1619T>C c.*507T>C (n.*507T>C) c.1182T>C (p.Asn394=) c.1344T>C (p.Asn448=) | |
| X | g.50086645T>G | CA413185698 | CLCN5 | c.1332T>G (p.Asn444Lys) c.582T>G (p.Asn194Lys) c.1122T>G (p.Asn374Lys) c.1619T>G c.*507T>G (n.*507T>G) c.1182T>G (p.Asn394Lys) c.1344T>G (p.Asn448Lys) | |
| X | g.50086646G>A | CA413185700 | CLCN5 | c.1333G>A (p.Glu445Lys) c.583G>A (p.Glu195Lys) c.1123G>A (p.Glu375Lys) c.1620G>A c.*508G>A (n.*508G>A) c.1183G>A (p.Glu395Lys) c.1345G>A (p.Glu449Lys) | gnomAD v4 |
| X | g.50086646G>C | CA413185702 | CLCN5 | c.1333G>C (p.Glu445Gln) c.583G>C (p.Glu195Gln) c.1123G>C (p.Glu375Gln) c.1620G>C c.*508G>C (n.*508G>C) c.1183G>C (p.Glu395Gln) c.1345G>C (p.Glu449Gln) | |
| X | g.50086646G>T | CA413185703 | CLCN5 | c.1333G>T (p.Glu445Ter) c.583G>T (p.Glu195Ter) c.1123G>T (p.Glu375Ter) c.1620G>T c.*508G>T (n.*508G>T) c.1183G>T (p.Glu395Ter) c.1345G>T (p.Glu449Ter) | |
| X | g.50086647A>C | CA413185706 | CLCN5 | c.1334A>C (p.Glu445Ala) c.584A>C (p.Glu195Ala) c.1124A>C (p.Glu375Ala) c.1621A>C c.*509A>C (n.*509A>C) c.1184A>C (p.Glu395Ala) c.1346A>C (p.Glu449Ala) | |
| X | g.50086647A>G | CA413185708 | CLCN5 | c.1334A>G (p.Glu445Gly) c.584A>G (p.Glu195Gly) c.1124A>G (p.Glu375Gly) c.1621A>G c.*509A>G (n.*509A>G) c.1184A>G (p.Glu395Gly) c.1346A>G (p.Glu449Gly) | |
| X | g.50086647A>T | CA413185710 | CLCN5 | c.1334A>T (p.Glu445Val) c.584A>T (p.Glu195Val) c.1124A>T (p.Glu375Val) c.1621A>T c.*509A>T (n.*509A>T) c.1184A>T (p.Glu395Val) c.1346A>T (p.Glu449Val) | |
| X | g.50086648A>C | CA413185712 | CLCN5 | c.1335A>C (p.Glu445Asp) c.585A>C (p.Glu195Asp) c.1125A>C (p.Glu375Asp) c.1622A>C c.*510A>C (n.*510A>C) c.1185A>C (p.Glu395Asp) c.1347A>C (p.Glu449Asp) | |
| X | g.50086648A>G | CA516678341 | CLCN5 | c.1335A>G (p.Glu445=) c.585A>G (p.Glu195=) c.1125A>G (p.Glu375=) c.1622A>G c.*510A>G (n.*510A>G) c.1185A>G (p.Glu395=) c.1347A>G (p.Glu449=) | |
| X | g.50086648A>T | CA413185714 | CLCN5 | c.1335A>T (p.Glu445Asp) c.585A>T (p.Glu195Asp) c.1125A>T (p.Glu375Asp) c.1622A>T c.*510A>T (n.*510A>T) c.1185A>T (p.Glu395Asp) c.1347A>T (p.Glu449Asp) | |
| X | g.50086649del | CA2695233685 | CLCN5 | c.1336del (p.Tyr446ThrfsTer4) c.586del (p.Tyr196ThrfsTer4) c.1126del (p.Tyr376ThrfsTer4) c.1623del c.*511del (n.*511del) c.1186del (p.Tyr396ThrfsTer4) c.1348del (p.Tyr450ThrfsTer4) | |
| X | g.50086649T>A | CA413185720 | CLCN5 | c.1336T>A (p.Tyr446Asn) c.586T>A (p.Tyr196Asn) c.1126T>A (p.Tyr376Asn) c.1623T>A c.*511T>A (n.*511T>A) c.1186T>A (p.Tyr396Asn) c.1348T>A (p.Tyr450Asn) | |
| X | g.50086649T>C | CA413185717 | CLCN5 | c.1336T>C (p.Tyr446His) c.586T>C (p.Tyr196His) c.1126T>C (p.Tyr376His) c.1623T>C c.*511T>C (n.*511T>C) c.1186T>C (p.Tyr396His) c.1348T>C (p.Tyr450His) | |
| X | g.50086649T>G | CA413185718 | CLCN5 | c.1336T>G (p.Tyr446Asp) c.586T>G (p.Tyr196Asp) c.1126T>G (p.Tyr376Asp) c.1623T>G c.*511T>G (n.*511T>G) c.1186T>G (p.Tyr396Asp) c.1348T>G (p.Tyr450Asp) | |
| X | g.50086650A>C | CA413185722 | CLCN5 | c.1337A>C (p.Tyr446Ser) c.587A>C (p.Tyr196Ser) c.1127A>C (p.Tyr376Ser) c.1624A>C c.*512A>C (n.*512A>C) c.1187A>C (p.Tyr396Ser) c.1349A>C (p.Tyr450Ser) | |
| X | g.50086650A>G | CA413185724 | CLCN5 | c.1337A>G (p.Tyr446Cys) c.587A>G (p.Tyr196Cys) c.1127A>G (p.Tyr376Cys) c.1624A>G c.*512A>G (n.*512A>G) c.1187A>G (p.Tyr396Cys) c.1349A>G (p.Tyr450Cys) | |
| X | g.50086650A>T | CA413185725 | CLCN5 | c.1337A>T (p.Tyr446Phe) c.587A>T (p.Tyr196Phe) c.1127A>T (p.Tyr376Phe) c.1624A>T c.*512A>T (n.*512A>T) c.1187A>T (p.Tyr396Phe) c.1349A>T (p.Tyr450Phe) | |
| X | g.50086651C>A | CA413185727 | CLCN5 | c.1338C>A (p.Tyr446Ter) c.588C>A (p.Tyr196Ter) c.1128C>A (p.Tyr376Ter) c.1625C>A c.*513C>A (n.*513C>A) c.1188C>A (p.Tyr396Ter) c.1350C>A (p.Tyr450Ter) | |
| X | g.50086651C= | CA2428768930 | CLCN5 | c.1338C= (p.Tyr446=) c.588C= (p.Tyr196=) c.1128C= (p.Tyr376=) c.1625C= c.*513C= (n.*513C=) c.1188C= (p.Tyr396=) c.1350C= (p.Tyr450=) | |
| X | g.50086651C>G | CA413185729 | CLCN5 | c.1338C>G (p.Tyr446Ter) c.588C>G (p.Tyr196Ter) c.1128C>G (p.Tyr376Ter) c.1625C>G c.*513C>G (n.*513C>G) c.1188C>G (p.Tyr396Ter) c.1350C>G (p.Tyr450Ter) | |
| X | g.50086651C>T | CA516678346 | CLCN5 | c.1338C>T (p.Tyr446=) c.588C>T (p.Tyr196=) c.1128C>T (p.Tyr376=) c.1625C>T c.*513C>T (n.*513C>T) c.1188C>T (p.Tyr396=) c.1350C>T (p.Tyr450=) | dbSNP |
| X | g.50086652A>C | CA413185732 | CLCN5 | c.1339A>C (p.Thr447Pro) c.589A>C (p.Thr197Pro) c.1129A>C (p.Thr377Pro) c.1626A>C c.*514A>C (n.*514A>C) c.1189A>C (p.Thr397Pro) c.1351A>C (p.Thr451Pro) | |
| X | g.50086652A>G | CA413185733 | CLCN5 | c.1339A>G (p.Thr447Ala) c.589A>G (p.Thr197Ala) c.1129A>G (p.Thr377Ala) c.1626A>G c.*514A>G (n.*514A>G) c.1189A>G (p.Thr397Ala) c.1351A>G (p.Thr451Ala) | gnomAD v4 |
| X | g.50086652A>T | CA413185735 | CLCN5 | c.1339A>T (p.Thr447Ser) c.589A>T (p.Thr197Ser) c.1129A>T (p.Thr377Ser) c.1626A>T c.*514A>T (n.*514A>T) c.1189A>T (p.Thr397Ser) c.1351A>T (p.Thr451Ser) | |
| X | g.50086653C>A | CA413185737 | CLCN5 | c.1340C>A (p.Thr447Asn) c.590C>A (p.Thr197Asn) c.1130C>A (p.Thr377Asn) c.1627C>A c.*515C>A (n.*515C>A) c.1190C>A (p.Thr397Asn) c.1352C>A (p.Thr451Asn) | |
| X | g.50086653C>G | CA413185739 | CLCN5 | c.1340C>G (p.Thr447Ser) c.590C>G (p.Thr197Ser) c.1130C>G (p.Thr377Ser) c.1627C>G c.*515C>G (n.*515C>G) c.1190C>G (p.Thr397Ser) c.1352C>G (p.Thr451Ser) | |
| X | g.50086653C>T | CA413185741 | CLCN5 | c.1340C>T (p.Thr447Ile) c.590C>T (p.Thr197Ile) c.1130C>T (p.Thr377Ile) c.1627C>T c.*515C>T (n.*515C>T) c.1190C>T (p.Thr397Ile) c.1352C>T (p.Thr451Ile) | |
| X | g.50086654T>A | CA516678349 | CLCN5 | c.1341T>A (p.Thr447=) c.591T>A (p.Thr197=) c.1131T>A (p.Thr377=) c.1628T>A c.*516T>A (n.*516T>A) c.1191T>A (p.Thr397=) c.1353T>A (p.Thr451=) | |
| X | g.50086654T>C | CA329782444 | CLCN5 | c.1341T>C (p.Thr447=) c.591T>C (p.Thr197=) c.1131T>C (p.Thr377=) c.1628T>C c.*516T>C (n.*516T>C) c.1191T>C (p.Thr397=) c.1353T>C (p.Thr451=) | dbSNP gnomAD v4 |
| X | g.50086654T>G | CA516678352 | CLCN5 | c.1341T>G (p.Thr447=) c.591T>G (p.Thr197=) c.1131T>G (p.Thr377=) c.1628T>G c.*516T>G (n.*516T>G) c.1191T>G (p.Thr397=) c.1353T>G (p.Thr451=) | |
| X | g.50086654T= | CA2428768931 | CLCN5 | c.1341T= (p.Thr447=) c.591T= (p.Thr197=) c.1131T= (p.Thr377=) c.1628T= c.*516T= (n.*516T=) c.1191T= (p.Thr397=) c.1353T= (p.Thr451=) | |
| X | g.50086655C>A | CA516678353 | CLCN5 | c.1342C>A (p.Arg448=) c.592C>A (p.Arg198=) c.1132C>A (p.Arg378=) c.1629C>A c.*517C>A (n.*517C>A) c.1192C>A (p.Arg398=) c.1354C>A (p.Arg452=) | |
| X | g.50086655C= | CA2428768932 | CLCN5 | c.1342C= (p.Arg448=) c.592C= (p.Arg198=) c.1132C= (p.Arg378=) c.1629C= c.*517C= (n.*517C=) c.1192C= (p.Arg398=) c.1354C= (p.Arg452=) | |
| X | g.50086655C>G | CA413185744 | CLCN5 | c.1342C>G (p.Arg448Gly) c.592C>G (p.Arg198Gly) c.1132C>G (p.Arg378Gly) c.1629C>G c.*517C>G (n.*517C>G) c.1192C>G (p.Arg398Gly) c.1354C>G (p.Arg452Gly) | |
| X | g.50086655C>T | CA413185746 | CLCN5 | c.1342C>T (p.Arg448Trp) c.592C>T (p.Arg198Trp) c.1132C>T (p.Arg378Trp) c.1629C>T c.*517C>T (n.*517C>T) c.1192C>T (p.Arg398Trp) c.1354C>T (p.Arg452Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086656G>A | CA10413864 | CLCN5 | c.1343G>A (p.Arg448Gln) c.593G>A (p.Arg198Gln) c.1133G>A (p.Arg378Gln) c.1630G>A c.*518G>A (n.*518G>A) c.1193G>A (p.Arg398Gln) c.1355G>A (p.Arg452Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.50086656G>C | CA413185750 | CLCN5 | c.1343G>C (p.Arg448Pro) c.593G>C (p.Arg198Pro) c.1133G>C (p.Arg378Pro) c.1630G>C c.*518G>C (n.*518G>C) c.1193G>C (p.Arg398Pro) c.1355G>C (p.Arg452Pro) | |
| X | g.50086656G= | CA2428768933 | CLCN5 | c.1343G= (p.Arg448=) c.593G= (p.Arg198=) c.1133G= (p.Arg378=) c.1630G= c.*518G= (n.*518G=) c.1193G= (p.Arg398=) c.1355G= (p.Arg452=) | |
| X | g.50086656G>T | CA413185748 | CLCN5 | c.1343G>T (p.Arg448Leu) c.593G>T (p.Arg198Leu) c.1133G>T (p.Arg378Leu) c.1630G>T c.*518G>T (n.*518G>T) c.1193G>T (p.Arg398Leu) c.1355G>T (p.Arg452Leu) | gnomAD v4 |
| X | g.50086657G>A | CA516678358 | CLCN5 | c.1344G>A (p.Arg448=) c.594G>A (p.Arg198=) c.1134G>A (p.Arg378=) c.1631G>A c.*519G>A (n.*519G>A) c.1194G>A (p.Arg398=) c.1356G>A (p.Arg452=) | |
| X | g.50086657G>C | CA516678359 | CLCN5 | c.1344G>C (p.Arg448=) c.594G>C (p.Arg198=) c.1134G>C (p.Arg378=) c.1631G>C c.*519G>C (n.*519G>C) c.1194G>C (p.Arg398=) c.1356G>C (p.Arg452=) | |
| X | g.50086657G>T | CA516678357 | CLCN5 | c.1344G>T (p.Arg448=) c.594G>T (p.Arg198=) c.1134G>T (p.Arg378=) c.1631G>T c.*519G>T (n.*519G>T) c.1194G>T (p.Arg398=) c.1356G>T (p.Arg452=) | |
| X | g.50086658A>C | CA413185753 | CLCN5 | c.1345A>C (p.Met449Leu) c.595A>C (p.Met199Leu) c.1135A>C (p.Met379Leu) c.1632A>C c.*520A>C (n.*520A>C) c.1195A>C (p.Met399Leu) c.1357A>C (p.Met453Leu) | |
| X | g.50086658A>G | CA413185754 | CLCN5 | c.1345A>G (p.Met449Val) c.595A>G (p.Met199Val) c.1135A>G (p.Met379Val) c.1632A>G c.*520A>G (n.*520A>G) c.1195A>G (p.Met399Val) c.1357A>G (p.Met453Val) | |
| X | g.50086658A>T | CA413185756 | CLCN5 | c.1345A>T (p.Met449Leu) c.595A>T (p.Met199Leu) c.1135A>T (p.Met379Leu) c.1632A>T c.*520A>T (n.*520A>T) c.1195A>T (p.Met399Leu) c.1357A>T (p.Met453Leu) | |
| X | g.50086659T>A | CA413185759 | CLCN5 | c.1346T>A (p.Met449Lys) c.596T>A (p.Met199Lys) c.1136T>A (p.Met379Lys) c.1633T>A c.*521T>A (n.*521T>A) c.1196T>A (p.Met399Lys) c.1358T>A (p.Met453Lys) | gnomAD v4 |
| X | g.50086659T>C | CA413185760 | CLCN5 | c.1346T>C (p.Met449Thr) c.596T>C (p.Met199Thr) c.1136T>C (p.Met379Thr) c.1633T>C c.*521T>C (n.*521T>C) c.1196T>C (p.Met399Thr) c.1358T>C (p.Met453Thr) | |
| X | g.50086659T>G | CA413185762 | CLCN5 | c.1346T>G (p.Met449Arg) c.596T>G (p.Met199Arg) c.1136T>G (p.Met379Arg) c.1633T>G c.*521T>G (n.*521T>G) c.1196T>G (p.Met399Arg) c.1358T>G (p.Met453Arg) | |
| X | g.50086660G>A | CA413185765 | CLCN5 | c.1347G>A (p.Met449Ile) c.597G>A (p.Met199Ile) c.1137G>A (p.Met379Ile) c.1634G>A c.*522G>A (n.*522G>A) c.1197G>A (p.Met399Ile) c.1359G>A (p.Met453Ile) | |
| X | g.50086660G>C | CA413185766 | CLCN5 | c.1347G>C (p.Met449Ile) c.597G>C (p.Met199Ile) c.1137G>C (p.Met379Ile) c.1634G>C c.*522G>C (n.*522G>C) c.1197G>C (p.Met399Ile) c.1359G>C (p.Met453Ile) | |
| X | g.50086660G>T | CA413185768 | CLCN5 | c.1347G>T (p.Met449Ile) c.597G>T (p.Met199Ile) c.1137G>T (p.Met379Ile) c.1634G>T c.*522G>T (n.*522G>T) c.1197G>T (p.Met399Ile) c.1359G>T (p.Met453Ile) | |
| X | g.50086661A>C | CA413185770 | CLCN5 | c.1348A>C (p.Ser450Arg) c.598A>C (p.Ser200Arg) c.1138A>C (p.Ser380Arg) c.1635A>C c.*523A>C (n.*523A>C) c.1198A>C (p.Ser400Arg) c.1360A>C (p.Ser454Arg) | |
| X | g.50086661A>G | CA413185772 | CLCN5 | c.1348A>G (p.Ser450Gly) c.598A>G (p.Ser200Gly) c.1138A>G (p.Ser380Gly) c.1635A>G c.*523A>G (n.*523A>G) c.1198A>G (p.Ser400Gly) c.1360A>G (p.Ser454Gly) | gnomAD v4 |
| X | g.50086661A>T | CA413185774 | CLCN5 | c.1348A>T (p.Ser450Cys) c.598A>T (p.Ser200Cys) c.1138A>T (p.Ser380Cys) c.1635A>T c.*523A>T (n.*523A>T) c.1198A>T (p.Ser400Cys) c.1360A>T (p.Ser454Cys) | |
| X | g.50086662G>A | CA413185780 | CLCN5 | c.1349G>A (p.Ser450Asn) c.599G>A (p.Ser200Asn) c.1139G>A (p.Ser380Asn) c.1636G>A c.*524G>A (n.*524G>A) c.1199G>A (p.Ser400Asn) c.1361G>A (p.Ser454Asn) | |
| X | g.50086662G>C | CA413185776 | CLCN5 | c.1349G>C (p.Ser450Thr) c.599G>C (p.Ser200Thr) c.1139G>C (p.Ser380Thr) c.1636G>C c.*524G>C (n.*524G>C) c.1199G>C (p.Ser400Thr) c.1361G>C (p.Ser454Thr) | |
| X | g.50086662G>T | CA413185778 | CLCN5 | c.1349G>T (p.Ser450Ile) c.599G>T (p.Ser200Ile) c.1139G>T (p.Ser380Ile) c.1636G>T c.*524G>T (n.*524G>T) c.1199G>T (p.Ser400Ile) c.1361G>T (p.Ser454Ile) | |
| X | g.50086663C>A | CA413185781 | CLCN5 | c.1350C>A (p.Ser450Arg) c.600C>A (p.Ser200Arg) c.1140C>A (p.Ser380Arg) c.1637C>A c.*525C>A (n.*525C>A) c.1200C>A (p.Ser400Arg) c.1362C>A (p.Ser454Arg) | |
| X | g.50086663C>G | CA413185783 | CLCN5 | c.1350C>G (p.Ser450Arg) c.600C>G (p.Ser200Arg) c.1140C>G (p.Ser380Arg) c.1637C>G c.*525C>G (n.*525C>G) c.1200C>G (p.Ser400Arg) c.1362C>G (p.Ser454Arg) | |
| X | g.50086663C>T | CA516678372 | CLCN5 | c.1350C>T (p.Ser450=) c.600C>T (p.Ser200=) c.1140C>T (p.Ser380=) c.1637C>T c.*525C>T (n.*525C>T) c.1200C>T (p.Ser400=) c.1362C>T (p.Ser454=) | gnomAD v4 |
| X | g.50086664A>C | CA413185785 | CLCN5 | c.1351A>C (p.Thr451Pro) c.601A>C (p.Thr201Pro) c.1141A>C (p.Thr381Pro) c.1638A>C c.*526A>C (n.*526A>C) c.1201A>C (p.Thr401Pro) c.1363A>C (p.Thr455Pro) | |
| X | g.50086664A>G | CA413185787 | CLCN5 | c.1351A>G (p.Thr451Ala) c.601A>G (p.Thr201Ala) c.1141A>G (p.Thr381Ala) c.1638A>G c.*526A>G (n.*526A>G) c.1201A>G (p.Thr401Ala) c.1363A>G (p.Thr455Ala) | |
| X | g.50086664A>T | CA413185789 | CLCN5 | c.1351A>T (p.Thr451Ser) c.601A>T (p.Thr201Ser) c.1141A>T (p.Thr381Ser) c.1638A>T c.*526A>T (n.*526A>T) c.1201A>T (p.Thr401Ser) c.1363A>T (p.Thr455Ser) | |
| X | g.50086665C>A | CA413185791 | CLCN5 | c.1352C>A (p.Thr451Lys) c.602C>A (p.Thr201Lys) c.1142C>A (p.Thr381Lys) c.1639C>A c.*527C>A (n.*527C>A) c.1202C>A (p.Thr401Lys) c.1364C>A (p.Thr455Lys) | |
| X | g.50086665C= | CA2428768934 | CLCN5 | c.1352C= (p.Thr451=) c.602C= (p.Thr201=) c.1142C= (p.Thr381=) c.1639C= c.*527C= (n.*527C=) c.1202C= (p.Thr401=) c.1364C= (p.Thr455=) | |
| X | g.50086665C>G | CA413185793 | CLCN5 | c.1352C>G (p.Thr451Arg) c.602C>G (p.Thr201Arg) c.1142C>G (p.Thr381Arg) c.1639C>G c.*527C>G (n.*527C>G) c.1202C>G (p.Thr401Arg) c.1364C>G (p.Thr455Arg) | |
| X | g.50086665C>T | CA10413865 | CLCN5 | c.1352C>T (p.Thr451Ile) c.602C>T (p.Thr201Ile) c.1142C>T (p.Thr381Ile) c.1639C>T c.*527C>T (n.*527C>T) c.1202C>T (p.Thr401Ile) c.1364C>T (p.Thr455Ile) | dbSNP ExAC gnomAD v2 |
| X | g.50086666A= | CA2428768935 | CLCN5 | c.1353A= (p.Thr451=) c.603A= (p.Thr201=) c.1143A= (p.Thr381=) c.1640A= c.*528A= (n.*528A=) c.1203A= (p.Thr401=) c.1365A= (p.Thr455=) | |
| X | g.50086666A>C | CA516678379 | CLCN5 | c.1353A>C (p.Thr451=) c.603A>C (p.Thr201=) c.1143A>C (p.Thr381=) c.1640A>C c.*528A>C (n.*528A>C) c.1203A>C (p.Thr401=) c.1365A>C (p.Thr455=) | |
| X | g.50086666A>G | CA516678380 | CLCN5 | c.1353A>G (p.Thr451=) c.603A>G (p.Thr201=) c.1143A>G (p.Thr381=) c.1640A>G c.*528A>G (n.*528A>G) c.1203A>G (p.Thr401=) c.1365A>G (p.Thr455=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086666A>T | CA516678387 | CLCN5 | c.1353A>T (p.Thr451=) c.603A>T (p.Thr201=) c.1143A>T (p.Thr381=) c.1640A>T c.*528A>T (n.*528A>T) c.1203A>T (p.Thr401=) c.1365A>T (p.Thr455=) | |
| X | g.50086667A= | CA2428768936 | CLCN5 | c.1354A= (p.Ser452=) c.604A= (p.Ser202=) c.1144A= (p.Ser382=) c.1641A= c.*529A= (n.*529A=) c.1204A= (p.Ser402=) c.1366A= (p.Ser456=) | |
| X | g.50086667A>C | CA413185796 | CLCN5 | c.1354A>C (p.Ser452Arg) c.604A>C (p.Ser202Arg) c.1144A>C (p.Ser382Arg) c.1641A>C c.*529A>C (n.*529A>C) c.1204A>C (p.Ser402Arg) c.1366A>C (p.Ser456Arg) | |
| X | g.50086667A>G | CA10413866 | CLCN5 | c.1354A>G (p.Ser452Gly) c.604A>G (p.Ser202Gly) c.1144A>G (p.Ser382Gly) c.1641A>G c.*529A>G (n.*529A>G) c.1204A>G (p.Ser402Gly) c.1366A>G (p.Ser456Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086667A>T | CA413185799 | CLCN5 | c.1354A>T (p.Ser452Cys) c.604A>T (p.Ser202Cys) c.1144A>T (p.Ser382Cys) c.1641A>T c.*529A>T (n.*529A>T) c.1204A>T (p.Ser402Cys) c.1366A>T (p.Ser456Cys) | |
| X | g.50086668G>A | CA413185803 | CLCN5 | c.1355G>A (p.Ser452Asn) c.605G>A (p.Ser202Asn) c.1145G>A (p.Ser382Asn) c.1642G>A c.*530G>A (n.*530G>A) c.1205G>A (p.Ser402Asn) c.1367G>A (p.Ser456Asn) | |
| X | g.50086668G>C | CA413185805 | CLCN5 | c.1355G>C (p.Ser452Thr) c.605G>C (p.Ser202Thr) c.1145G>C (p.Ser382Thr) c.1642G>C c.*530G>C (n.*530G>C) c.1205G>C (p.Ser402Thr) c.1367G>C (p.Ser456Thr) | |
| X | g.50086668G>T | CA413185802 | CLCN5 | c.1355G>T (p.Ser452Ile) c.605G>T (p.Ser202Ile) c.1145G>T (p.Ser382Ile) c.1642G>T c.*530G>T (n.*530G>T) c.1205G>T (p.Ser402Ile) c.1367G>T (p.Ser456Ile) | |
| X | g.50086669T>A | CA413185807 | CLCN5 | c.1356T>A (p.Ser452Arg) c.606T>A (p.Ser202Arg) c.1146T>A (p.Ser382Arg) c.1643T>A c.*531T>A (n.*531T>A) c.1206T>A (p.Ser402Arg) c.1368T>A (p.Ser456Arg) | |
| X | g.50086669T>C | CA516678392 | CLCN5 | c.1356T>C (p.Ser452=) c.606T>C (p.Ser202=) c.1146T>C (p.Ser382=) c.1643T>C c.*531T>C (n.*531T>C) c.1206T>C (p.Ser402=) c.1368T>C (p.Ser456=) | |
| X | g.50086669T>G | CA413185809 | CLCN5 | c.1356T>G (p.Ser452Arg) c.606T>G (p.Ser202Arg) c.1146T>G (p.Ser382Arg) c.1643T>G c.*531T>G (n.*531T>G) c.1206T>G (p.Ser402Arg) c.1368T>G (p.Ser456Arg) | |
| X | g.50086670G>A | CA413185812 | CLCN5 | c.1357G>A (p.Glu453Lys) c.607G>A (p.Glu203Lys) c.1147G>A (p.Glu383Lys) c.1644G>A c.*532G>A (n.*532G>A) c.1207G>A (p.Glu403Lys) c.1369G>A (p.Glu457Lys) | |
| X | g.50086670G>C | CA413185814 | CLCN5 | c.1357G>C (p.Glu453Gln) c.607G>C (p.Glu203Gln) c.1147G>C (p.Glu383Gln) c.1644G>C c.*532G>C (n.*532G>C) c.1207G>C (p.Glu403Gln) c.1369G>C (p.Glu457Gln) | |
| X | g.50086670G>T | CA413185815 | CLCN5 | c.1357G>T (p.Glu453Ter) c.607G>T (p.Glu203Ter) c.1147G>T (p.Glu383Ter) c.1644G>T c.*532G>T (n.*532G>T) c.1207G>T (p.Glu403Ter) c.1369G>T (p.Glu457Ter) | |
| X | g.50086671A>C | CA413185818 | CLCN5 | c.1358A>C (p.Glu453Ala) c.608A>C (p.Glu203Ala) c.1148A>C (p.Glu383Ala) c.1645A>C c.*533A>C (n.*533A>C) c.1208A>C (p.Glu403Ala) c.1370A>C (p.Glu457Ala) | |
| X | g.50086671A>G | CA413185820 | CLCN5 | c.1358A>G (p.Glu453Gly) c.608A>G (p.Glu203Gly) c.1148A>G (p.Glu383Gly) c.1645A>G c.*533A>G (n.*533A>G) c.1208A>G (p.Glu403Gly) c.1370A>G (p.Glu457Gly) | |
| X | g.50086671A>T | CA413185822 | CLCN5 | c.1358A>T (p.Glu453Val) c.608A>T (p.Glu203Val) c.1148A>T (p.Glu383Val) c.1645A>T c.*533A>T (n.*533A>T) c.1208A>T (p.Glu403Val) c.1370A>T (p.Glu457Val) | |
| X | g.50086672G>A | CA516678396 | CLCN5 | c.1359G>A (p.Glu453=) c.609G>A (p.Glu203=) c.1149G>A (p.Glu383=) c.1646G>A c.*534G>A (n.*534G>A) c.1209G>A (p.Glu403=) c.1371G>A (p.Glu457=) | |
| X | g.50086672G>C | CA413185824 | CLCN5 | c.1359G>C (p.Glu453Asp) c.609G>C (p.Glu203Asp) c.1149G>C (p.Glu383Asp) c.1646G>C c.*534G>C (n.*534G>C) c.1209G>C (p.Glu403Asp) c.1371G>C (p.Glu457Asp) | |
| X | g.50086672G>T | CA413185826 | CLCN5 | c.1359G>T (p.Glu453Asp) c.609G>T (p.Glu203Asp) c.1149G>T (p.Glu383Asp) c.1646G>T c.*534G>T (n.*534G>T) c.1209G>T (p.Glu403Asp) c.1371G>T (p.Glu457Asp) | |
| X | g.50086673C>A | CA413185828 | CLCN5 | c.1360C>A (p.Leu454Ile) c.610C>A (p.Leu204Ile) c.1150C>A (p.Leu384Ile) c.1647C>A c.*535C>A (n.*535C>A) c.1210C>A (p.Leu404Ile) c.1372C>A (p.Leu458Ile) | |
| X | g.50086673C>G | CA413185830 | CLCN5 | c.1360C>G (p.Leu454Val) c.610C>G (p.Leu204Val) c.1150C>G (p.Leu384Val) c.1647C>G c.*535C>G (n.*535C>G) c.1210C>G (p.Leu404Val) c.1372C>G (p.Leu458Val) | |
| X | g.50086673C>T | CA413185832 | CLCN5 | c.1360C>T (p.Leu454Phe) c.610C>T (p.Leu204Phe) c.1150C>T (p.Leu384Phe) c.1647C>T c.*535C>T (n.*535C>T) c.1210C>T (p.Leu404Phe) c.1372C>T (p.Leu458Phe) | |
| X | g.50086674T>A | CA413185838 | CLCN5 | c.1361T>A (p.Leu454His) c.611T>A (p.Leu204His) c.1151T>A (p.Leu384His) c.1648T>A c.*536T>A (n.*536T>A) c.1211T>A (p.Leu404His) c.1373T>A (p.Leu458His) | |
| X | g.50086674T>C | CA413185836 | CLCN5 | c.1361T>C (p.Leu454Pro) c.611T>C (p.Leu204Pro) c.1151T>C (p.Leu384Pro) c.1648T>C c.*536T>C (n.*536T>C) c.1211T>C (p.Leu404Pro) c.1373T>C (p.Leu458Pro) | |
| X | g.50086674T>G | CA413185834 | CLCN5 | c.1361T>G (p.Leu454Arg) c.611T>G (p.Leu204Arg) c.1151T>G (p.Leu384Arg) c.1648T>G c.*536T>G (n.*536T>G) c.1211T>G (p.Leu404Arg) c.1373T>G (p.Leu458Arg) | |
| X | g.50086675C>A | CA516678402 | CLCN5 | c.1362C>A (p.Leu454=) c.612C>A (p.Leu204=) c.1152C>A (p.Leu384=) c.1649C>A c.*537C>A (n.*537C>A) c.1212C>A (p.Leu404=) c.1374C>A (p.Leu458=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.50086675C= | CA2428768937 | CLCN5 | c.1362C= (p.Leu454=) c.612C= (p.Leu204=) c.1152C= (p.Leu384=) c.1649C= c.*537C= (n.*537C=) c.1212C= (p.Leu404=) c.1374C= (p.Leu458=) | |
| X | g.50086675C>G | CA516678403 | CLCN5 | c.1362C>G (p.Leu454=) c.612C>G (p.Leu204=) c.1152C>G (p.Leu384=) c.1649C>G c.*537C>G (n.*537C>G) c.1212C>G (p.Leu404=) c.1374C>G (p.Leu458=) | |
| X | g.50086675C>T | CA516678404 | CLCN5 | c.1362C>T (p.Leu454=) c.612C>T (p.Leu204=) c.1152C>T (p.Leu384=) c.1649C>T c.*537C>T (n.*537C>T) c.1212C>T (p.Leu404=) c.1374C>T (p.Leu458=) | |
| X | g.50086676A>C | CA413185840 | CLCN5 | c.1363A>C (p.Ile455Leu) c.613A>C (p.Ile205Leu) c.1153A>C (p.Ile385Leu) c.1650A>C c.*538A>C (n.*538A>C) c.1213A>C (p.Ile405Leu) c.1375A>C (p.Ile459Leu) | |
| X | g.50086676A>G | CA413185842 | CLCN5 | c.1363A>G (p.Ile455Val) c.613A>G (p.Ile205Val) c.1153A>G (p.Ile385Val) c.1650A>G c.*538A>G (n.*538A>G) c.1213A>G (p.Ile405Val) c.1375A>G (p.Ile459Val) | |
| X | g.50086676A>T | CA413185844 | CLCN5 | c.1363A>T (p.Ile455Phe) c.613A>T (p.Ile205Phe) c.1153A>T (p.Ile385Phe) c.1650A>T c.*538A>T (n.*538A>T) c.1213A>T (p.Ile405Phe) c.1375A>T (p.Ile459Phe) | |
| X | g.50086677T>A | CA413185846 | CLCN5 | c.1364T>A (p.Ile455Asn) c.614T>A (p.Ile205Asn) c.1154T>A (p.Ile385Asn) c.1651T>A c.*539T>A (n.*539T>A) c.1214T>A (p.Ile405Asn) c.1376T>A (p.Ile459Asn) | |
| X | g.50086677T>C | CA413185848 | CLCN5 | c.1364T>C (p.Ile455Thr) c.614T>C (p.Ile205Thr) c.1154T>C (p.Ile385Thr) c.1651T>C c.*539T>C (n.*539T>C) c.1214T>C (p.Ile405Thr) c.1376T>C (p.Ile459Thr) | |
| X | g.50086677T>G | CA413185850 | CLCN5 | c.1364T>G (p.Ile455Ser) c.614T>G (p.Ile205Ser) c.1154T>G (p.Ile385Ser) c.1651T>G c.*539T>G (n.*539T>G) c.1214T>G (p.Ile405Ser) c.1376T>G (p.Ile459Ser) | |
| X | g.50086678T>A | CA516678408 | CLCN5 | c.1365T>A (p.Ile455=) c.615T>A (p.Ile205=) c.1155T>A (p.Ile385=) c.1652T>A c.*540T>A (n.*540T>A) c.1215T>A (p.Ile405=) c.1377T>A (p.Ile459=) | |
| X | g.50086678T>C | CA516678414 | CLCN5 | c.1365T>C (p.Ile455=) c.615T>C (p.Ile205=) c.1155T>C (p.Ile385=) c.1652T>C c.*540T>C (n.*540T>C) c.1215T>C (p.Ile405=) c.1377T>C (p.Ile459=) | |
| X | g.50086678T>G | CA413185852 | CLCN5 | c.1365T>G (p.Ile455Met) c.615T>G (p.Ile205Met) c.1155T>G (p.Ile385Met) c.1652T>G c.*540T>G (n.*540T>G) c.1215T>G (p.Ile405Met) c.1377T>G (p.Ile459Met) | |
| X | g.50086679T>A | CA413185855 | CLCN5 | c.1366T>A (p.Ser456Thr) c.616T>A (p.Ser206Thr) c.1156T>A (p.Ser386Thr) c.1653T>A c.*541T>A (n.*541T>A) c.1216T>A (p.Ser406Thr) c.1378T>A (p.Ser460Thr) | |
| X | g.50086679T>C | CA413185857 | CLCN5 | c.1366T>C (p.Ser456Pro) c.616T>C (p.Ser206Pro) c.1156T>C (p.Ser386Pro) c.1653T>C c.*541T>C (n.*541T>C) c.1216T>C (p.Ser406Pro) c.1378T>C (p.Ser460Pro) | |
| X | g.50086679T>G | CA413185859 | CLCN5 | c.1366T>G (p.Ser456Ala) c.616T>G (p.Ser206Ala) c.1156T>G (p.Ser386Ala) c.1653T>G c.*541T>G (n.*541T>G) c.1216T>G (p.Ser406Ala) c.1378T>G (p.Ser460Ala) | |
| X | g.50086680C>A | CA413185861 | CLCN5 | c.1367C>A (p.Ser456Tyr) c.617C>A (p.Ser206Tyr) c.1157C>A (p.Ser386Tyr) c.1654C>A c.*542C>A (n.*542C>A) c.1217C>A (p.Ser406Tyr) c.1379C>A (p.Ser460Tyr) | |
| X | g.50086680C>G | CA413185862 | CLCN5 | c.1367C>G (p.Ser456Cys) c.617C>G (p.Ser206Cys) c.1157C>G (p.Ser386Cys) c.1654C>G c.*542C>G (n.*542C>G) c.1217C>G (p.Ser406Cys) c.1379C>G (p.Ser460Cys) | |
| X | g.50086680C>T | CA413185865 | CLCN5 | c.1367C>T (p.Ser456Phe) c.617C>T (p.Ser206Phe) c.1157C>T (p.Ser386Phe) c.1654C>T c.*542C>T (n.*542C>T) c.1217C>T (p.Ser406Phe) c.1379C>T (p.Ser460Phe) | |
| X | g.50086681T>A | CA516678422 | CLCN5 | c.1368T>A (p.Ser456=) c.618T>A (p.Ser206=) c.1158T>A (p.Ser386=) c.1655T>A c.*543T>A (n.*543T>A) c.1218T>A (p.Ser406=) c.1380T>A (p.Ser460=) | |
| X | g.50086681T>C | CA516678423 | CLCN5 | c.1368T>C (p.Ser456=) c.618T>C (p.Ser206=) c.1158T>C (p.Ser386=) c.1655T>C c.*543T>C (n.*543T>C) c.1218T>C (p.Ser406=) c.1380T>C (p.Ser460=) | |
| X | g.50086681T>G | CA516678425 | CLCN5 | c.1368T>G (p.Ser456=) c.618T>G (p.Ser206=) c.1158T>G (p.Ser386=) c.1655T>G c.*543T>G (n.*543T>G) c.1218T>G (p.Ser406=) c.1380T>G (p.Ser460=) | gnomAD v4 |
| X | g.50086682G>A | CA413185867 | CLCN5 | c.1369G>A (p.Glu457Lys) c.619G>A (p.Glu207Lys) c.1159G>A (p.Glu387Lys) c.1656G>A c.*544G>A (n.*544G>A) c.1219G>A (p.Glu407Lys) c.1381G>A (p.Glu461Lys) | |
| X | g.50086682G>C | CA413185870 | CLCN5 | c.1369G>C (p.Glu457Gln) c.619G>C (p.Glu207Gln) c.1159G>C (p.Glu387Gln) c.1656G>C c.*544G>C (n.*544G>C) c.1219G>C (p.Glu407Gln) c.1381G>C (p.Glu461Gln) | |
| X | g.50086682G>T | CA413185868 | CLCN5 | c.1369G>T (p.Glu457Ter) c.619G>T (p.Glu207Ter) c.1159G>T (p.Glu387Ter) c.1656G>T c.*544G>T (n.*544G>T) c.1219G>T (p.Glu407Ter) c.1381G>T (p.Glu461Ter) | |
| X | g.50086683A>C | CA413185873 | CLCN5 | c.1370A>C (p.Glu457Ala) c.620A>C (p.Glu207Ala) c.1160A>C (p.Glu387Ala) c.1657A>C c.*545A>C (n.*545A>C) c.1220A>C (p.Glu407Ala) c.1382A>C (p.Glu461Ala) | gnomAD v4 |
| X | g.50086683A>G | CA413185875 | CLCN5 | c.1370A>G (p.Glu457Gly) c.620A>G (p.Glu207Gly) c.1160A>G (p.Glu387Gly) c.1657A>G c.*545A>G (n.*545A>G) c.1220A>G (p.Glu407Gly) c.1382A>G (p.Glu461Gly) | |
| X | g.50086683A>T | CA413185877 | CLCN5 | c.1370A>T (p.Glu457Val) c.620A>T (p.Glu207Val) c.1160A>T (p.Glu387Val) c.1657A>T c.*545A>T (n.*545A>T) c.1220A>T (p.Glu407Val) c.1382A>T (p.Glu461Val) | |
| X | g.50086684G>A | CA516678431 | CLCN5 | c.1371G>A (p.Glu457=) c.621G>A (p.Glu207=) c.1161G>A (p.Glu387=) c.1658G>A c.*546G>A (n.*546G>A) c.1221G>A (p.Glu407=) c.1383G>A (p.Glu461=) | dbSNP |
| X | g.50086684G>C | CA413185879 | CLCN5 | c.1371G>C (p.Glu457Asp) c.621G>C (p.Glu207Asp) c.1161G>C (p.Glu387Asp) c.1658G>C c.*546G>C (n.*546G>C) c.1221G>C (p.Glu407Asp) c.1383G>C (p.Glu461Asp) | |
| X | g.50086684G>T | CA413185881 | CLCN5 | c.1371G>T (p.Glu457Asp) c.621G>T (p.Glu207Asp) c.1161G>T (p.Glu387Asp) c.1658G>T c.*546G>T (n.*546G>T) c.1221G>T (p.Glu407Asp) c.1383G>T (p.Glu461Asp) | |
| X | g.50086685C>A | CA413185883 | CLCN5 | c.1372C>A (p.Leu458Met) c.622C>A (p.Leu208Met) c.1162C>A (p.Leu388Met) c.1659C>A c.*547C>A (n.*547C>A) c.1222C>A (p.Leu408Met) c.1384C>A (p.Leu462Met) | |
| X | g.50086685C>G | CA413185885 | CLCN5 | c.1372C>G (p.Leu458Val) c.622C>G (p.Leu208Val) c.1162C>G (p.Leu388Val) c.1659C>G c.*547C>G (n.*547C>G) c.1222C>G (p.Leu408Val) c.1384C>G (p.Leu462Val) | |
| X | g.50086685C>T | CA516678432 | CLCN5 | c.1372C>T (p.Leu458=) c.622C>T (p.Leu208=) c.1162C>T (p.Leu388=) c.1659C>T c.*547C>T (n.*547C>T) c.1222C>T (p.Leu408=) c.1384C>T (p.Leu462=) | gnomAD v4 |
| X | g.50086686T>A | CA413185887 | CLCN5 | c.1373T>A (p.Leu458Gln) c.623T>A (p.Leu208Gln) c.1163T>A (p.Leu388Gln) c.1660T>A c.*548T>A (n.*548T>A) c.1223T>A (p.Leu408Gln) c.1385T>A (p.Leu462Gln) | |
| X | g.50086686T>C | CA413185891 | CLCN5 | c.1373T>C (p.Leu458Pro) c.623T>C (p.Leu208Pro) c.1163T>C (p.Leu388Pro) c.1660T>C c.*548T>C (n.*548T>C) c.1223T>C (p.Leu408Pro) c.1385T>C (p.Leu462Pro) | |
| X | g.50086686T>G | CA413185889 | CLCN5 | c.1373T>G (p.Leu458Arg) c.623T>G (p.Leu208Arg) c.1163T>G (p.Leu388Arg) c.1660T>G c.*548T>G (n.*548T>G) c.1223T>G (p.Leu408Arg) c.1385T>G (p.Leu462Arg) | |
| X | g.50086686_50086687delinsTG | CA2428768938 | CLCN5 | c.1373_1374delinsTG (p.Leu458=) c.623_624delinsTG (p.Leu208=) c.1163_1164delinsTG (p.Leu388=) c.1660_1661delinsTG c.*548_*549delinsTG (n.*548_*549delinsTG) c.1223_1224delinsTG (p.Leu408=) c.1385_1386delinsTG (p.Leu462=) | |
| X | g.50086687_50086690dup | CA2693737107 | CLCN5 | c.1374_1377dup (p.Asn460ValfsTer2) c.624_627dup (p.Asn210ValfsTer2) c.1164_1167dup (p.Asn390ValfsTer2) c.1661_1664dup c.*549_*552dup (n.*549_*552dup) c.1224_1227dup (p.Asn410ValfsTer2) c.1386_1389dup (p.Asn464ValfsTer2) | gnomAD v4 |
| X | g.50086687del | CA658799745 | CLCN5 | c.1374del (p.Phe459LeufsTer?) c.624del (p.Phe209LeufsTer?) c.1164del (p.Phe389LeufsTer?) c.1661del c.*549del (n.*549del) c.1224del (p.Phe409LeufsTer?) c.1386del (p.Phe463LeufsTer?) | ClinVar dbSNP |
| X | g.50086687G>A | CA10413867 | CLCN5 | c.1374G>A (p.Leu458=) c.624G>A (p.Leu208=) c.1164G>A (p.Leu388=) c.1661G>A c.*549G>A (n.*549G>A) c.1224G>A (p.Leu408=) c.1386G>A (p.Leu462=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50086687G>C | CA516678438 | CLCN5 | c.1374G>C (p.Leu458=) c.624G>C (p.Leu208=) c.1164G>C (p.Leu388=) c.1661G>C c.*549G>C (n.*549G>C) c.1224G>C (p.Leu408=) c.1386G>C (p.Leu462=) | |
| X | g.50086687G= | CA2428768939 | CLCN5 | c.1374G= (p.Leu458=) c.624G= (p.Leu208=) c.1164G= (p.Leu388=) c.1661G= c.*549G= (n.*549G=) c.1224G= (p.Leu408=) c.1386G= (p.Leu462=) | |
| X | g.50086687G>T | CA516678443 | CLCN5 | c.1374G>T (p.Leu458=) c.624G>T (p.Leu208=) c.1164G>T (p.Leu388=) c.1661G>T c.*549G>T (n.*549G>T) c.1224G>T (p.Leu408=) c.1386G>T (p.Leu462=) | |
| X | g.50086687_50086688insAG | CA2695233686 | CLCN5 | c.1374_1375insAG (p.Phe459SerfsTer?) c.624_625insAG (p.Phe209SerfsTer?) c.1164_1165insAG (p.Phe389SerfsTer?) c.1661_1662insAG c.*549_*550insAG (n.*549_*550insAG) c.1224_1225insAG (p.Phe409SerfsTer?) c.1386_1387insAG (p.Phe463SerfsTer?) | |
| X | g.50086688T>A | CA413185895 | CLCN5 | c.1375T>A (p.Phe459Ile) c.625T>A (p.Phe209Ile) c.1165T>A (p.Phe389Ile) c.1662T>A c.*550T>A (n.*550T>A) c.1225T>A (p.Phe409Ile) c.1387T>A (p.Phe463Ile) | |
| X | g.50086688T>C | CA413185897 | CLCN5 | c.1375T>C (p.Phe459Leu) c.625T>C (p.Phe209Leu) c.1165T>C (p.Phe389Leu) c.1662T>C c.*550T>C (n.*550T>C) c.1225T>C (p.Phe409Leu) c.1387T>C (p.Phe463Leu) | |
| X | g.50086688T>G | CA413185899 | CLCN5 | c.1375T>G (p.Phe459Val) c.625T>G (p.Phe209Val) c.1165T>G (p.Phe389Val) c.1662T>G c.*550T>G (n.*550T>G) c.1225T>G (p.Phe409Val) c.1387T>G (p.Phe463Val) | |
| X | g.50086689T>A | CA413185906 | CLCN5 | c.1376T>A (p.Phe459Tyr) c.626T>A (p.Phe209Tyr) c.1166T>A (p.Phe389Tyr) c.1663T>A c.*551T>A (n.*551T>A) c.1226T>A (p.Phe409Tyr) c.1388T>A (p.Phe463Tyr) | |
| X | g.50086689T>C | CA413185902 | CLCN5 | c.1376T>C (p.Phe459Ser) c.626T>C (p.Phe209Ser) c.1166T>C (p.Phe389Ser) c.1663T>C c.*551T>C (n.*551T>C) c.1226T>C (p.Phe409Ser) c.1388T>C (p.Phe463Ser) | |
| X | g.50086689T>G | CA413185904 | CLCN5 | c.1376T>G (p.Phe459Cys) c.626T>G (p.Phe209Cys) c.1166T>G (p.Phe389Cys) c.1663T>G c.*551T>G (n.*551T>G) c.1226T>G (p.Phe409Cys) c.1388T>G (p.Phe463Cys) | |
| X | g.50086690T>A | CA413185908 | CLCN5 | c.1377T>A (p.Phe459Leu) c.627T>A (p.Phe209Leu) c.1167T>A (p.Phe389Leu) c.1664T>A c.*552T>A (n.*552T>A) c.1227T>A (p.Phe409Leu) c.1389T>A (p.Phe463Leu) | |
| X | g.50086690T>C | CA516678448 | CLCN5 | c.1377T>C (p.Phe459=) c.627T>C (p.Phe209=) c.1167T>C (p.Phe389=) c.1664T>C c.*552T>C (n.*552T>C) c.1227T>C (p.Phe409=) c.1389T>C (p.Phe463=) | |
| X | g.50086690T>G | CA413185910 | CLCN5 | c.1377T>G (p.Phe459Leu) c.627T>G (p.Phe209Leu) c.1167T>G (p.Phe389Leu) c.1664T>G c.*552T>G (n.*552T>G) c.1227T>G (p.Phe409Leu) c.1389T>G (p.Phe463Leu) | |
| X | g.50086691A>C | CA413185913 | CLCN5 | c.1378A>C (p.Asn460His) c.628A>C (p.Asn210His) c.1168A>C (p.Asn390His) c.1665A>C c.*553A>C (n.*553A>C) c.1228A>C (p.Asn410His) c.1390A>C (p.Asn464His) | |
| X | g.50086691A>G | CA413185914 | CLCN5 | c.1378A>G (p.Asn460Asp) c.628A>G (p.Asn210Asp) c.1168A>G (p.Asn390Asp) c.1665A>G c.*553A>G (n.*553A>G) c.1228A>G (p.Asn410Asp) c.1390A>G (p.Asn464Asp) | |
| X | g.50086691A>T | CA413185916 | CLCN5 | c.1378A>T (p.Asn460Tyr) c.628A>T (p.Asn210Tyr) c.1168A>T (p.Asn390Tyr) c.1665A>T c.*553A>T (n.*553A>T) c.1228A>T (p.Asn410Tyr) c.1390A>T (p.Asn464Tyr) | |
| X | g.50086692A>C | CA413185919 | CLCN5 | c.1379A>C (p.Asn460Thr) c.629A>C (p.Asn210Thr) c.1169A>C (p.Asn390Thr) c.1666A>C c.*554A>C (n.*554A>C) c.1229A>C (p.Asn410Thr) c.1391A>C (p.Asn464Thr) | COSMIC COSMIC |
| X | g.50086692A>G | CA413185921 | CLCN5 | c.1379A>G (p.Asn460Ser) c.629A>G (p.Asn210Ser) c.1169A>G (p.Asn390Ser) c.1666A>G c.*554A>G (n.*554A>G) c.1229A>G (p.Asn410Ser) c.1391A>G (p.Asn464Ser) | |
| X | g.50086692A>T | CA413185923 | CLCN5 | c.1379A>T (p.Asn460Ile) c.629A>T (p.Asn210Ile) c.1169A>T (p.Asn390Ile) c.1666A>T c.*554A>T (n.*554A>T) c.1229A>T (p.Asn410Ile) c.1391A>T (p.Asn464Ile) | |
| X | g.50086693T>A | CA413185925 | CLCN5 | c.1380T>A (p.Asn460Lys) c.630T>A (p.Asn210Lys) c.1170T>A (p.Asn390Lys) c.1667T>A c.*555T>A (n.*555T>A) c.1230T>A (p.Asn410Lys) c.1392T>A (p.Asn464Lys) | |
| X | g.50086693T>C | CA516678455 | CLCN5 | c.1380T>C (p.Asn460=) c.630T>C (p.Asn210=) c.1170T>C (p.Asn390=) c.1667T>C c.*555T>C (n.*555T>C) c.1230T>C (p.Asn410=) c.1392T>C (p.Asn464=) | |
| X | g.50086693T>G | CA413185927 | CLCN5 | c.1380T>G (p.Asn460Lys) c.630T>G (p.Asn210Lys) c.1170T>G (p.Asn390Lys) c.1667T>G c.*555T>G (n.*555T>G) c.1230T>G (p.Asn410Lys) c.1392T>G (p.Asn464Lys) | |
| X | g.50086694G>A | CA413185929 | CLCN5 | c.1381G>A (p.Asp461Asn) c.631G>A (p.Asp211Asn) c.1171G>A (p.Asp391Asn) c.1668G>A c.*556G>A (n.*556G>A) c.1231G>A (p.Asp411Asn) c.1393G>A (p.Asp465Asn) | |
| X | g.50086694G>C | CA413185931 | CLCN5 | c.1381G>C (p.Asp461His) c.631G>C (p.Asp211His) c.1171G>C (p.Asp391His) c.1668G>C c.*556G>C (n.*556G>C) c.1231G>C (p.Asp411His) c.1393G>C (p.Asp465His) | |
| X | g.50086694G>T | CA413185933 | CLCN5 | c.1381G>T (p.Asp461Tyr) c.631G>T (p.Asp211Tyr) c.1171G>T (p.Asp391Tyr) c.1668G>T c.*556G>T (n.*556G>T) c.1231G>T (p.Asp411Tyr) c.1393G>T (p.Asp465Tyr) | |
| X | g.50086695A= | CA2428768940 | CLCN5 | c.1382A= (p.Asp461=) c.632A= (p.Asp211=) c.1172A= (p.Asp391=) c.1669A= c.*557A= (n.*557A=) c.1232A= (p.Asp411=) c.1394A= (p.Asp465=) | |
| X | g.50086695A>C | CA413185937 | CLCN5 | c.1382A>C (p.Asp461Ala) c.632A>C (p.Asp211Ala) c.1172A>C (p.Asp391Ala) c.1669A>C c.*557A>C (n.*557A>C) c.1232A>C (p.Asp411Ala) c.1394A>C (p.Asp465Ala) | ClinVar dbSNP gnomAD v4 |
| X | g.50086695A>G | CA413185934 | CLCN5 | c.1382A>G (p.Asp461Gly) c.632A>G (p.Asp211Gly) c.1172A>G (p.Asp391Gly) c.1669A>G c.*557A>G (n.*557A>G) c.1232A>G (p.Asp411Gly) c.1394A>G (p.Asp465Gly) | COSMIC COSMIC |
| X | g.50086695A>T | CA413185936 | CLCN5 | c.1382A>T (p.Asp461Val) c.632A>T (p.Asp211Val) c.1172A>T (p.Asp391Val) c.1669A>T c.*557A>T (n.*557A>T) c.1232A>T (p.Asp411Val) c.1394A>T (p.Asp465Val) | |
| X | g.50086696C>A | CA413185939 | CLCN5 | c.1383C>A (p.Asp461Glu) c.633C>A (p.Asp211Glu) c.1173C>A (p.Asp391Glu) c.1670C>A c.*558C>A (n.*558C>A) c.1233C>A (p.Asp411Glu) c.1395C>A (p.Asp465Glu) | |
| X | g.50086696C>G | CA413185941 | CLCN5 | c.1383C>G (p.Asp461Glu) c.633C>G (p.Asp211Glu) c.1173C>G (p.Asp391Glu) c.1670C>G c.*558C>G (n.*558C>G) c.1233C>G (p.Asp411Glu) c.1395C>G (p.Asp465Glu) | |
| X | g.50086696C>T | CA516678458 | CLCN5 | c.1383C>T (p.Asp461=) c.633C>T (p.Asp211=) c.1173C>T (p.Asp391=) c.1670C>T c.*558C>T (n.*558C>T) c.1233C>T (p.Asp411=) c.1395C>T (p.Asp465=) | |
| X | g.50086697T>A | CA413185943 | CLCN5 | c.1384T>A (p.Cys462Ser) c.634T>A (p.Cys212Ser) c.1174T>A (p.Cys392Ser) c.1671T>A c.*559T>A (n.*559T>A) c.1234T>A (p.Cys412Ser) c.1396T>A (p.Cys466Ser) | |
| X | g.50086697T>C | CA413185946 | CLCN5 | c.1384T>C (p.Cys462Arg) c.634T>C (p.Cys212Arg) c.1174T>C (p.Cys392Arg) c.1671T>C c.*559T>C (n.*559T>C) c.1234T>C (p.Cys412Arg) c.1396T>C (p.Cys466Arg) | |
| X | g.50086697T>G | CA413185948 | CLCN5 | c.1384T>G (p.Cys462Gly) c.634T>G (p.Cys212Gly) c.1174T>G (p.Cys392Gly) c.1671T>G c.*559T>G (n.*559T>G) c.1234T>G (p.Cys412Gly) c.1396T>G (p.Cys466Gly) | |
| X | g.50086699_50086700del | CA2580617050 | CLCN5 | c.1386_1387del (p.Cys462TrpfsTer10) c.636_637del (p.Cys212TrpfsTer10) c.1176_1177del (p.Cys392TrpfsTer10) c.1673_1674del c.*561_*562del (n.*561_*562del) c.1236_1237del (p.Cys412TrpfsTer10) c.1398_1399del (p.Cys466TrpfsTer10) | ClinVar dbSNP |
| X | g.50086698G>A | CA413185951 | CLCN5 | c.1385G>A (p.Cys462Tyr) c.635G>A (p.Cys212Tyr) c.1175G>A (p.Cys392Tyr) c.1672G>A c.*560G>A (n.*560G>A) c.1235G>A (p.Cys412Tyr) c.1397G>A (p.Cys466Tyr) | |
| X | g.50086698G>C | CA413185953 | CLCN5 | c.1385G>C (p.Cys462Ser) c.635G>C (p.Cys212Ser) c.1175G>C (p.Cys392Ser) c.1672G>C c.*560G>C (n.*560G>C) c.1235G>C (p.Cys412Ser) c.1397G>C (p.Cys466Ser) | |
| X | g.50086698G>T | CA413185955 | CLCN5 | c.1385G>T (p.Cys462Phe) c.635G>T (p.Cys212Phe) c.1175G>T (p.Cys392Phe) c.1672G>T c.*560G>T (n.*560G>T) c.1235G>T (p.Cys412Phe) c.1397G>T (p.Cys466Phe) | |
| X | g.50086699T>A | CA413185957 | CLCN5 | c.1386T>A (p.Cys462Ter) c.636T>A (p.Cys212Ter) c.1176T>A (p.Cys392Ter) c.1673T>A c.*561T>A (n.*561T>A) c.1236T>A (p.Cys412Ter) c.1398T>A (p.Cys466Ter) | |
| X | g.50086699T>C | CA516678464 | CLCN5 | c.1386T>C (p.Cys462=) c.636T>C (p.Cys212=) c.1176T>C (p.Cys392=) c.1673T>C c.*561T>C (n.*561T>C) c.1236T>C (p.Cys412=) c.1398T>C (p.Cys466=) | |
| X | g.50086699T>G | CA413185959 | CLCN5 | c.1386T>G (p.Cys462Trp) c.636T>G (p.Cys212Trp) c.1176T>G (p.Cys392Trp) c.1673T>G c.*561T>G (n.*561T>G) c.1236T>G (p.Cys412Trp) c.1398T>G (p.Cys466Trp) | |
| X | g.50086700G>A | CA413185961 | CLCN5 | c.1387G>A (p.Gly463Ser) c.637G>A (p.Gly213Ser) c.1177G>A (p.Gly393Ser) c.1674G>A c.*562G>A (n.*562G>A) c.1237G>A (p.Gly413Ser) c.1399G>A (p.Gly467Ser) | gnomAD v4 |
| X | g.50086700G>C | CA413185963 | CLCN5 | c.1387G>C (p.Gly463Arg) c.637G>C (p.Gly213Arg) c.1177G>C (p.Gly393Arg) c.1674G>C c.*562G>C (n.*562G>C) c.1237G>C (p.Gly413Arg) c.1399G>C (p.Gly467Arg) | |
| X | g.50086700G>T | CA413185964 | CLCN5 | c.1387G>T (p.Gly463Cys) c.637G>T (p.Gly213Cys) c.1177G>T (p.Gly393Cys) c.1674G>T c.*562G>T (n.*562G>T) c.1237G>T (p.Gly413Cys) c.1399G>T (p.Gly467Cys) | |
| X | g.50086701G>A | CA413185971 | CLCN5 | c.1388G>A (p.Gly463Asp) c.638G>A (p.Gly213Asp) c.1178G>A (p.Gly393Asp) c.1675G>A c.*563G>A (n.*563G>A) c.1238G>A (p.Gly413Asp) c.1400G>A (p.Gly467Asp) | |
| X | g.50086701G>C | CA413185969 | CLCN5 | c.1388G>C (p.Gly463Ala) c.638G>C (p.Gly213Ala) c.1178G>C (p.Gly393Ala) c.1675G>C c.*563G>C (n.*563G>C) c.1238G>C (p.Gly413Ala) c.1400G>C (p.Gly467Ala) | |
| X | g.50086701G>T | CA413185967 | CLCN5 | c.1388G>T (p.Gly463Val) c.638G>T (p.Gly213Val) c.1178G>T (p.Gly393Val) c.1675G>T c.*563G>T (n.*563G>T) c.1238G>T (p.Gly413Val) c.1400G>T (p.Gly467Val) | |
| X | g.50086702C>A | CA516678468 | CLCN5 | c.1389C>A (p.Gly463=) c.639C>A (p.Gly213=) c.1179C>A (p.Gly393=) c.1676C>A c.*564C>A (n.*564C>A) c.1239C>A (p.Gly413=) c.1401C>A (p.Gly467=) | |
| X | g.50086702C= | CA2428768941 | CLCN5 | c.1389C= (p.Gly463=) c.639C= (p.Gly213=) c.1179C= (p.Gly393=) c.1676C= c.*564C= (n.*564C=) c.1239C= (p.Gly413=) c.1401C= (p.Gly467=) | |
| X | g.50086702C>G | CA516678469 | CLCN5 | c.1389C>G (p.Gly463=) c.639C>G (p.Gly213=) c.1179C>G (p.Gly393=) c.1676C>G c.*564C>G (n.*564C>G) c.1239C>G (p.Gly413=) c.1401C>G (p.Gly467=) | gnomAD v4 |
| X | g.50086702C>T | CA516678471 | CLCN5 | c.1389C>T (p.Gly463=) c.639C>T (p.Gly213=) c.1179C>T (p.Gly393=) c.1676C>T c.*564C>T (n.*564C>T) c.1239C>T (p.Gly413=) c.1401C>T (p.Gly467=) | |
| X | g.50086702_50086703insGGT | CA10413868 | CLCN5 | c.1389_1390insGGT (p.Gly463_Leu464insGly) c.639_640insGGT (p.Gly213_Leu214insGly) c.1179_1180insGGT (p.Gly393_Leu394insGly) c.1676_1677insGGT c.*564_*565insGGT (n.*564_*565insGGT) c.1239_1240insGGT (p.Gly413_Leu414insGly) c.1401_1402insGGT (p.Gly467_Leu468insGly) | dbSNP ExAC |
| X | g.50086703C>A | CA413185975 | CLCN5 | c.1390C>A (p.Leu464Ile) c.640C>A (p.Leu214Ile) c.1180C>A (p.Leu394Ile) c.1677C>A c.*565C>A (n.*565C>A) c.1240C>A (p.Leu414Ile) c.1402C>A (p.Leu468Ile) | |
| X | g.50086703C>G | CA413185977 | CLCN5 | c.1390C>G (p.Leu464Val) c.640C>G (p.Leu214Val) c.1180C>G (p.Leu394Val) c.1677C>G c.*565C>G (n.*565C>G) c.1240C>G (p.Leu414Val) c.1402C>G (p.Leu468Val) | |
| X | g.50086703C>T | CA413185979 | CLCN5 | c.1390C>T (p.Leu464Phe) c.640C>T (p.Leu214Phe) c.1180C>T (p.Leu394Phe) c.1677C>T c.*565C>T (n.*565C>T) c.1240C>T (p.Leu414Phe) c.1402C>T (p.Leu468Phe) | gnomAD v4 |
| X | g.50086704T>A | CA413185982 | CLCN5 | c.1391T>A (p.Leu464His) c.641T>A (p.Leu214His) c.1181T>A (p.Leu394His) c.1678T>A c.*566T>A (n.*566T>A) c.1241T>A (p.Leu414His) c.1403T>A (p.Leu468His) | |
| X | g.50086704T>C | CA413185984 | CLCN5 | c.1391T>C (p.Leu464Pro) c.641T>C (p.Leu214Pro) c.1181T>C (p.Leu394Pro) c.1678T>C c.*566T>C (n.*566T>C) c.1241T>C (p.Leu414Pro) c.1403T>C (p.Leu468Pro) | |
| X | g.50086704T>G | CA413185986 | CLCN5 | c.1391T>G (p.Leu464Arg) c.641T>G (p.Leu214Arg) c.1181T>G (p.Leu394Arg) c.1678T>G c.*566T>G (n.*566T>G) c.1241T>G (p.Leu414Arg) c.1403T>G (p.Leu468Arg) | |
| X | g.50086704T= | CA2428768942 | CLCN5 | c.1391T= (p.Leu464=) c.641T= (p.Leu214=) c.1181T= (p.Leu394=) c.1678T= c.*566T= (n.*566T=) c.1241T= (p.Leu414=) c.1403T= (p.Leu468=) | |
| X | g.50086705dup | CA2832528823 | CLCN5 | c.1392dup (p.Leu465SerfsTer8) c.642dup (p.Leu215SerfsTer8) c.1182dup (p.Leu395SerfsTer8) c.1679dup c.*567dup (n.*567dup) c.1242dup (p.Leu415SerfsTer8) c.1404dup (p.Leu469SerfsTer8) | |
| X | g.50086705del | CA2695233687 | CLCN5 | c.1392del (p.Leu465TrpfsTer?) c.642del (p.Leu215TrpfsTer?) c.1182del (p.Leu395TrpfsTer?) c.1679del c.*567del (n.*567del) c.1242del (p.Leu415TrpfsTer?) c.1404del (p.Leu469TrpfsTer?) | |
| X | g.50086705T>A | CA516678475 | CLCN5 | c.1392T>A (p.Leu464=) c.642T>A (p.Leu214=) c.1182T>A (p.Leu394=) c.1679T>A c.*567T>A (n.*567T>A) c.1242T>A (p.Leu414=) c.1404T>A (p.Leu468=) | |
| X | g.50086705T>C | CA516678477 | CLCN5 | c.1392T>C (p.Leu464=) c.642T>C (p.Leu214=) c.1182T>C (p.Leu394=) c.1679T>C c.*567T>C (n.*567T>C) c.1242T>C (p.Leu414=) c.1404T>C (p.Leu468=) | dbSNP |
| X | g.50086705T>G | CA516678478 | CLCN5 | c.1392T>G (p.Leu464=) c.642T>G (p.Leu214=) c.1182T>G (p.Leu394=) c.1679T>G c.*567T>G (n.*567T>G) c.1242T>G (p.Leu414=) c.1404T>G (p.Leu468=) | |
| X | g.50086705T= | CA2428768943 | CLCN5 | c.1392T= (p.Leu464=) c.642T= (p.Leu214=) c.1182T= (p.Leu394=) c.1679T= c.*567T= (n.*567T=) c.1242T= (p.Leu414=) c.1404T= (p.Leu468=) | |
| X | g.50086705_50086706insGT | CA10413869 | CLCN5 | c.1392_1393insGT (p.Leu465ValfsTer?) c.642_643insGT (p.Leu215ValfsTer?) c.1182_1183insGT (p.Leu395ValfsTer?) c.1679_1680insGT c.*567_*568insGT (n.*567_*568insGT) c.1242_1243insGT (p.Leu415ValfsTer?) c.1404_1405insGT (p.Leu469ValfsTer?) | dbSNP ExAC |
| X | g.50086706C>A | CA413185989 | CLCN5 | c.1393C>A (p.Leu465Met) c.643C>A (p.Leu215Met) c.1183C>A (p.Leu395Met) c.1680C>A c.*568C>A (n.*568C>A) c.1243C>A (p.Leu415Met) c.1405C>A (p.Leu469Met) | |
| X | g.50086706C= | CA2428768944 | CLCN5 | c.1393C= (p.Leu465=) c.643C= (p.Leu215=) c.1183C= (p.Leu395=) c.1680C= c.*568C= (n.*568C=) c.1243C= (p.Leu415=) c.1405C= (p.Leu469=) | |
| X | g.50086706C>G | CA413185991 | CLCN5 | c.1393C>G (p.Leu465Val) c.643C>G (p.Leu215Val) c.1183C>G (p.Leu395Val) c.1680C>G c.*568C>G (n.*568C>G) c.1243C>G (p.Leu415Val) c.1405C>G (p.Leu469Val) | |
| X | g.50086706C>T | CA516678480 | CLCN5 | c.1393C>T (p.Leu465=) c.643C>T (p.Leu215=) c.1183C>T (p.Leu395=) c.1680C>T c.*568C>T (n.*568C>T) c.1243C>T (p.Leu415=) c.1405C>T (p.Leu469=) | |
| X | g.50086706_50086707insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG | CA10413870 | CLCN5 | c.1393_1394insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG (p.Leu465ArgfsTer10) c.643_644insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG (p.Leu215ArgfsTer10) c.1183_1184insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG (p.Leu395ArgfsTer10) c.1680_1681insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG c.*568_*569insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG (n.*568_*569insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG) c.1243_1244insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG (p.Leu415ArgfsTer10) c.1405_1406insGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGG (p.Leu469ArgfsTer10) | dbSNP ExAC |
| X | g.50086707T>A | CA413185993 | CLCN5 | c.1394T>A (p.Leu465Gln) c.644T>A (p.Leu215Gln) c.1184T>A (p.Leu395Gln) c.1681T>A c.*569T>A (n.*569T>A) c.1244T>A (p.Leu415Gln) c.1406T>A (p.Leu469Gln) | |
| X | g.50086707T>C | CA413185995 | CLCN5 | c.1394T>C (p.Leu465Pro) c.644T>C (p.Leu215Pro) c.1184T>C (p.Leu395Pro) c.1681T>C c.*569T>C (n.*569T>C) c.1244T>C (p.Leu415Pro) c.1406T>C (p.Leu469Pro) | |
| X | g.50086707T>G | CA329782445 | CLCN5 | c.1394T>G (p.Leu465Arg) c.644T>G (p.Leu215Arg) c.1184T>G (p.Leu395Arg) c.1681T>G c.*569T>G (n.*569T>G) c.1244T>G (p.Leu415Arg) c.1406T>G (p.Leu469Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086707T= | CA2428768945 | CLCN5 | c.1394T= (p.Leu465=) c.644T= (p.Leu215=) c.1184T= (p.Leu395=) c.1681T= c.*569T= (n.*569T=) c.1244T= (p.Leu415=) c.1406T= (p.Leu469=) | |
| X | g.50086708G>A | CA516678487 | CLCN5 | c.1395G>A (p.Leu465=) c.645G>A (p.Leu215=) c.1185G>A (p.Leu395=) c.1682G>A c.*570G>A (n.*570G>A) c.1245G>A (p.Leu415=) c.1407G>A (p.Leu469=) | |
| X | g.50086708G>C | CA516678488 | CLCN5 | c.1395G>C (p.Leu465=) c.645G>C (p.Leu215=) c.1185G>C (p.Leu395=) c.1682G>C c.*570G>C (n.*570G>C) c.1245G>C (p.Leu415=) c.1407G>C (p.Leu469=) | |
| X | g.50086708G>T | CA516678491 | CLCN5 | c.1395G>T (p.Leu465=) c.645G>T (p.Leu215=) c.1185G>T (p.Leu395=) c.1682G>T c.*570G>T (n.*570G>T) c.1245G>T (p.Leu415=) c.1407G>T (p.Leu469=) | |
| X | g.50086709G>A | CA413185999 | CLCN5 | c.1396G>A (p.Asp466Asn) c.646G>A (p.Asp216Asn) c.1186G>A (p.Asp396Asn) c.1683G>A c.*571G>A (n.*571G>A) c.1246G>A (p.Asp416Asn) c.1408G>A (p.Asp470Asn) | |
| X | g.50086709G>C | CA413186001 | CLCN5 | c.1396G>C (p.Asp466His) c.646G>C (p.Asp216His) c.1186G>C (p.Asp396His) c.1683G>C c.*571G>C (n.*571G>C) c.1246G>C (p.Asp416His) c.1408G>C (p.Asp470His) | ClinVar dbSNP |
| X | g.50086709G= | CA2428768946 | CLCN5 | c.1396G= (p.Asp466=) c.646G= (p.Asp216=) c.1186G= (p.Asp396=) c.1683G= c.*571G= (n.*571G=) c.1246G= (p.Asp416=) c.1408G= (p.Asp470=) | |
| X | g.50086709G>T | CA413185997 | CLCN5 | c.1396G>T (p.Asp466Tyr) c.646G>T (p.Asp216Tyr) c.1186G>T (p.Asp396Tyr) c.1683G>T c.*571G>T (n.*571G>T) c.1246G>T (p.Asp416Tyr) c.1408G>T (p.Asp470Tyr) | dbSNP |
| X | g.50086710A= | CA2428768947 | CLCN5 | c.1397A= (p.Asp466=) c.647A= (p.Asp216=) c.1187A= (p.Asp396=) c.1684A= c.*572A= (n.*572A=) c.1247A= (p.Asp416=) c.1409A= (p.Asp470=) | |
| X | g.50086710A>C | CA10413871 | CLCN5 | c.1397A>C (p.Asp466Ala) c.647A>C (p.Asp216Ala) c.1187A>C (p.Asp396Ala) c.1684A>C c.*572A>C (n.*572A>C) c.1247A>C (p.Asp416Ala) c.1409A>C (p.Asp470Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086710A>G | CA413186006 | CLCN5 | c.1397A>G (p.Asp466Gly) c.647A>G (p.Asp216Gly) c.1187A>G (p.Asp396Gly) c.1684A>G c.*572A>G (n.*572A>G) c.1247A>G (p.Asp416Gly) c.1409A>G (p.Asp470Gly) | |
| X | g.50086710A>T | CA413186004 | CLCN5 | c.1397A>T (p.Asp466Val) c.647A>T (p.Asp216Val) c.1187A>T (p.Asp396Val) c.1684A>T c.*572A>T (n.*572A>T) c.1247A>T (p.Asp416Val) c.1409A>T (p.Asp470Val) | |
| X | g.50086711C>A | CA413186008 | CLCN5 | c.1398C>A (p.Asp466Glu) c.648C>A (p.Asp216Glu) c.1188C>A (p.Asp396Glu) c.1685C>A c.*573C>A (n.*573C>A) c.1248C>A (p.Asp416Glu) c.1410C>A (p.Asp470Glu) | |
| X | g.50086711C= | CA2428768948 | CLCN5 | c.1398C= (p.Asp466=) c.648C= (p.Asp216=) c.1188C= (p.Asp396=) c.1685C= c.*573C= (n.*573C=) c.1248C= (p.Asp416=) c.1410C= (p.Asp470=) | |
| X | g.50086711C>G | CA413186010 | CLCN5 | c.1398C>G (p.Asp466Glu) c.648C>G (p.Asp216Glu) c.1188C>G (p.Asp396Glu) c.1685C>G c.*573C>G (n.*573C>G) c.1248C>G (p.Asp416Glu) c.1410C>G (p.Asp470Glu) | |
| X | g.50086711C>T | CA516678495 | CLCN5 | c.1398C>T (p.Asp466=) c.648C>T (p.Asp216=) c.1188C>T (p.Asp396=) c.1685C>T c.*573C>T (n.*573C>T) c.1248C>T (p.Asp416=) c.1410C>T (p.Asp470=) | dbSNP |
| X | g.50086712T>A | CA413186012 | CLCN5 | c.1399T>A (p.Ser467Thr) c.649T>A (p.Ser217Thr) c.1189T>A (p.Ser397Thr) c.1686T>A c.*574T>A (n.*574T>A) c.1249T>A (p.Ser417Thr) c.1411T>A (p.Ser471Thr) | |
| X | g.50086712T>C | CA413186014 | CLCN5 | c.1399T>C (p.Ser467Pro) c.649T>C (p.Ser217Pro) c.1189T>C (p.Ser397Pro) c.1686T>C c.*574T>C (n.*574T>C) c.1249T>C (p.Ser417Pro) c.1411T>C (p.Ser471Pro) | |
| X | g.50086712T>G | CA413186016 | CLCN5 | c.1399T>G (p.Ser467Ala) c.649T>G (p.Ser217Ala) c.1189T>G (p.Ser397Ala) c.1686T>G c.*574T>G (n.*574T>G) c.1249T>G (p.Ser417Ala) c.1411T>G (p.Ser471Ala) | |
| X | g.50086713C>A | CA413186018 | CLCN5 | c.1400C>A (p.Ser467Tyr) c.650C>A (p.Ser217Tyr) c.1190C>A (p.Ser397Tyr) c.1687C>A c.*575C>A (n.*575C>A) c.1250C>A (p.Ser417Tyr) c.1412C>A (p.Ser471Tyr) | |
| X | g.50086713C= | CA2428768949 | CLCN5 | c.1400C= (p.Ser467=) c.650C= (p.Ser217=) c.1190C= (p.Ser397=) c.1687C= c.*575C= (n.*575C=) c.1250C= (p.Ser417=) c.1412C= (p.Ser471=) | |
| X | g.50086713C>G | CA329782446 | CLCN5 | c.1400C>G (p.Ser467Cys) c.650C>G (p.Ser217Cys) c.1190C>G (p.Ser397Cys) c.1687C>G c.*575C>G (n.*575C>G) c.1250C>G (p.Ser417Cys) c.1412C>G (p.Ser471Cys) | dbSNP |
| X | g.50086713C>T | CA413186022 | CLCN5 | c.1400C>T (p.Ser467Phe) c.650C>T (p.Ser217Phe) c.1190C>T (p.Ser397Phe) c.1687C>T c.*575C>T (n.*575C>T) c.1250C>T (p.Ser417Phe) c.1412C>T (p.Ser471Phe) | gnomAD v4 |
| X | g.50086714C>A | CA516678498 | CLCN5 | c.1401C>A (p.Ser467=) c.651C>A (p.Ser217=) c.1191C>A (p.Ser397=) c.1688C>A c.*576C>A (n.*576C>A) c.1251C>A (p.Ser417=) c.1413C>A (p.Ser471=) | |
| X | g.50086714C= | CA2428768950 | CLCN5 | c.1401C= (p.Ser467=) c.651C= (p.Ser217=) c.1191C= (p.Ser397=) c.1688C= c.*576C= (n.*576C=) c.1251C= (p.Ser417=) c.1413C= (p.Ser471=) | |
| X | g.50086714C>G | CA516678500 | CLCN5 | c.1401C>G (p.Ser467=) c.651C>G (p.Ser217=) c.1191C>G (p.Ser397=) c.1688C>G c.*576C>G (n.*576C>G) c.1251C>G (p.Ser417=) c.1413C>G (p.Ser471=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086714C>T | CA516678501 | CLCN5 | c.1401C>T (p.Ser467=) c.651C>T (p.Ser217=) c.1191C>T (p.Ser397=) c.1688C>T c.*576C>T (n.*576C>T) c.1251C>T (p.Ser417=) c.1413C>T (p.Ser471=) | |
| X | g.50086715T>A | CA413186024 | CLCN5 | c.1402T>A (p.Ser468Thr) c.652T>A (p.Ser218Thr) c.1192T>A (p.Ser398Thr) c.1689T>A c.*577T>A (n.*577T>A) c.1252T>A (p.Ser418Thr) c.1414T>A (p.Ser472Thr) | |
| X | g.50086715T>C | CA413186026 | CLCN5 | c.1402T>C (p.Ser468Pro) c.652T>C (p.Ser218Pro) c.1192T>C (p.Ser398Pro) c.1689T>C c.*577T>C (n.*577T>C) c.1252T>C (p.Ser418Pro) c.1414T>C (p.Ser472Pro) | |
| X | g.50086715T>G | CA413186028 | CLCN5 | c.1402T>G (p.Ser468Ala) c.652T>G (p.Ser218Ala) c.1192T>G (p.Ser398Ala) c.1689T>G c.*577T>G (n.*577T>G) c.1252T>G (p.Ser418Ala) c.1414T>G (p.Ser472Ala) | |
| X | g.50086716C>A | CA413186035 | CLCN5 | c.1403C>A (p.Ser468Tyr) c.653C>A (p.Ser218Tyr) c.1193C>A (p.Ser398Tyr) c.1690C>A c.*578C>A (n.*578C>A) c.1253C>A (p.Ser418Tyr) c.1415C>A (p.Ser472Tyr) | |
| X | g.50086716C>G | CA413186031 | CLCN5 | c.1403C>G (p.Ser468Cys) c.653C>G (p.Ser218Cys) c.1193C>G (p.Ser398Cys) c.1690C>G c.*578C>G (n.*578C>G) c.1253C>G (p.Ser418Cys) c.1415C>G (p.Ser472Cys) | |
| X | g.50086716C>T | CA413186033 | CLCN5 | c.1403C>T (p.Ser468Phe) c.653C>T (p.Ser218Phe) c.1193C>T (p.Ser398Phe) c.1690C>T c.*578C>T (n.*578C>T) c.1253C>T (p.Ser418Phe) c.1415C>T (p.Ser472Phe) | |
| X | g.50086717C>A | CA516678506 | CLCN5 | c.1404C>A (p.Ser468=) c.654C>A (p.Ser218=) c.1194C>A (p.Ser398=) c.1691C>A c.*579C>A (n.*579C>A) c.1254C>A (p.Ser418=) c.1416C>A (p.Ser472=) | |
| X | g.50086717C>G | CA516678508 | CLCN5 | c.1404C>G (p.Ser468=) c.654C>G (p.Ser218=) c.1194C>G (p.Ser398=) c.1691C>G c.*579C>G (n.*579C>G) c.1254C>G (p.Ser418=) c.1416C>G (p.Ser472=) | |
| X | g.50086717C>T | CA516678509 | CLCN5 | c.1404C>T (p.Ser468=) c.654C>T (p.Ser218=) c.1194C>T (p.Ser398=) c.1691C>T c.*579C>T (n.*579C>T) c.1254C>T (p.Ser418=) c.1416C>T (p.Ser472=) | |
| X | g.50086718A>C | CA413186038 | CLCN5 | c.1405A>C (p.Lys469Gln) c.655A>C (p.Lys219Gln) c.1195A>C (p.Lys399Gln) c.1692A>C c.*580A>C (n.*580A>C) c.1255A>C (p.Lys419Gln) c.1417A>C (p.Lys473Gln) | |
| X | g.50086718A>G | CA413186040 | CLCN5 | c.1405A>G (p.Lys469Glu) c.655A>G (p.Lys219Glu) c.1195A>G (p.Lys399Glu) c.1692A>G c.*580A>G (n.*580A>G) c.1255A>G (p.Lys419Glu) c.1417A>G (p.Lys473Glu) | |
| X | g.50086718A>T | CA413186042 | CLCN5 | c.1405A>T (p.Lys469Ter) c.655A>T (p.Lys219Ter) c.1195A>T (p.Lys399Ter) c.1692A>T c.*580A>T (n.*580A>T) c.1255A>T (p.Lys419Ter) c.1417A>T (p.Lys473Ter) | |
| X | g.50086719A>C | CA413186043 | CLCN5 | c.1406A>C (p.Lys469Thr) c.656A>C (p.Lys219Thr) c.1196A>C (p.Lys399Thr) c.1693A>C c.*581A>C (n.*581A>C) c.1256A>C (p.Lys419Thr) c.1418A>C (p.Lys473Thr) | |
| X | g.50086719A>G | CA413186045 | CLCN5 | c.1406A>G (p.Lys469Arg) c.656A>G (p.Lys219Arg) c.1196A>G (p.Lys399Arg) c.1693A>G c.*581A>G (n.*581A>G) c.1256A>G (p.Lys419Arg) c.1418A>G (p.Lys473Arg) | |
| X | g.50086719A>T | CA413186047 | CLCN5 | c.1406A>T (p.Lys469Met) c.656A>T (p.Lys219Met) c.1196A>T (p.Lys399Met) c.1693A>T c.*581A>T (n.*581A>T) c.1256A>T (p.Lys419Met) c.1418A>T (p.Lys473Met) | |
| X | g.50086720G>A | CA516678513 | CLCN5 | c.1407G>A (p.Lys469=) c.657G>A (p.Lys219=) c.1197G>A (p.Lys399=) c.1694G>A c.*582G>A (n.*582G>A) c.1257G>A (p.Lys419=) c.1419G>A (p.Lys473=) | gnomAD v4 |
| X | g.50086720G>C | CA413186049 | CLCN5 | c.1407G>C (p.Lys469Asn) c.657G>C (p.Lys219Asn) c.1197G>C (p.Lys399Asn) c.1694G>C c.*582G>C (n.*582G>C) c.1257G>C (p.Lys419Asn) c.1419G>C (p.Lys473Asn) | |
| X | g.50086720G>T | CA413186051 | CLCN5 | c.1407G>T (p.Lys469Asn) c.657G>T (p.Lys219Asn) c.1197G>T (p.Lys399Asn) c.1694G>T c.*582G>T (n.*582G>T) c.1257G>T (p.Lys419Asn) c.1419G>T (p.Lys473Asn) | |
| X | g.50086721C>A | CA413186054 | CLCN5 | c.1408C>A (p.Leu470Ile) c.658C>A (p.Leu220Ile) c.1198C>A (p.Leu400Ile) c.1695C>A c.*583C>A (n.*583C>A) c.1258C>A (p.Leu420Ile) c.1420C>A (p.Leu474Ile) | |
| X | g.50086721C= | CA2428768951 | CLCN5 | c.1408C= (p.Leu470=) c.658C= (p.Leu220=) c.1198C= (p.Leu400=) c.1695C= c.*583C= (n.*583C=) c.1258C= (p.Leu420=) c.1420C= (p.Leu474=) | |
| X | g.50086721C>G | CA413186056 | CLCN5 | c.1408C>G (p.Leu470Val) c.658C>G (p.Leu220Val) c.1198C>G (p.Leu400Val) c.1695C>G c.*583C>G (n.*583C>G) c.1258C>G (p.Leu420Val) c.1420C>G (p.Leu474Val) | |
| X | g.50086721C>T | CA413186058 | CLCN5 | c.1408C>T (p.Leu470Phe) c.658C>T (p.Leu220Phe) c.1198C>T (p.Leu400Phe) c.1695C>T c.*583C>T (n.*583C>T) c.1258C>T (p.Leu420Phe) c.1420C>T (p.Leu474Phe) | ClinVar dbSNP gnomAD v4 |
| X | g.50086722T>A | CA413186062 | CLCN5 | c.1409T>A (p.Leu470His) c.659T>A (p.Leu220His) c.1199T>A (p.Leu400His) c.1696T>A c.*584T>A (n.*584T>A) c.1259T>A (p.Leu420His) c.1421T>A (p.Leu474His) | |
| X | g.50086722T>C | CA413186064 | CLCN5 | c.1409T>C (p.Leu470Pro) c.659T>C (p.Leu220Pro) c.1199T>C (p.Leu400Pro) c.1696T>C c.*584T>C (n.*584T>C) c.1259T>C (p.Leu420Pro) c.1421T>C (p.Leu474Pro) | gnomAD v4 |
| X | g.50086722T>G | CA413186061 | CLCN5 | c.1409T>G (p.Leu470Arg) c.659T>G (p.Leu220Arg) c.1199T>G (p.Leu400Arg) c.1696T>G c.*584T>G (n.*584T>G) c.1259T>G (p.Leu420Arg) c.1421T>G (p.Leu474Arg) | |
| X | g.50086723del | CA2695233688 | CLCN5 | c.1410del (p.Cys471ValfsTer?) c.660del (p.Cys221ValfsTer?) c.1200del (p.Cys401ValfsTer?) c.1697del c.*585del (n.*585del) c.1260del (p.Cys421ValfsTer?) c.1422del (p.Cys475ValfsTer?) | |
| X | g.50086723C>A | CA516678518 | CLCN5 | c.1410C>A (p.Leu470=) c.660C>A (p.Leu220=) c.1200C>A (p.Leu400=) c.1697C>A c.*585C>A (n.*585C>A) c.1260C>A (p.Leu420=) c.1422C>A (p.Leu474=) | |
| X | g.50086723C>G | CA516678522 | CLCN5 | c.1410C>G (p.Leu470=) c.660C>G (p.Leu220=) c.1200C>G (p.Leu400=) c.1697C>G c.*585C>G (n.*585C>G) c.1260C>G (p.Leu420=) c.1422C>G (p.Leu474=) | |
| X | g.50086723C>T | CA516678520 | CLCN5 | c.1410C>T (p.Leu470=) c.660C>T (p.Leu220=) c.1200C>T (p.Leu400=) c.1697C>T c.*585C>T (n.*585C>T) c.1260C>T (p.Leu420=) c.1422C>T (p.Leu474=) | |
| X | g.50086724T>A | CA413186067 | CLCN5 | c.1411T>A (p.Cys471Ser) c.661T>A (p.Cys221Ser) c.1201T>A (p.Cys401Ser) c.1698T>A c.*586T>A (n.*586T>A) c.1261T>A (p.Cys421Ser) c.1423T>A (p.Cys475Ser) | |
| X | g.50086724T>C | CA413186068 | CLCN5 | c.1411T>C (p.Cys471Arg) c.661T>C (p.Cys221Arg) c.1201T>C (p.Cys401Arg) c.1698T>C c.*586T>C (n.*586T>C) c.1261T>C (p.Cys421Arg) c.1423T>C (p.Cys475Arg) | |
| X | g.50086724T>G | CA413186070 | CLCN5 | c.1411T>G (p.Cys471Gly) c.661T>G (p.Cys221Gly) c.1201T>G (p.Cys401Gly) c.1698T>G c.*586T>G (n.*586T>G) c.1261T>G (p.Cys421Gly) c.1423T>G (p.Cys475Gly) | |
| X | g.50086726_50086727del | CA2739273519 | CLCN5 | c.1413_1414del (p.Cys471Ter) c.663_664del (p.Cys221Ter) c.1203_1204del (p.Cys401Ter) c.1700_1701del c.*588_*589del (n.*588_*589del) c.1263_1264del (p.Cys421Ter) c.1425_1426del (p.Cys475Ter) | ClinVar |
| X | g.50086725G>A | CA413186071 | CLCN5 | c.1412G>A (p.Cys471Tyr) c.662G>A (p.Cys221Tyr) c.1202G>A (p.Cys401Tyr) c.1699G>A c.*587G>A (n.*587G>A) c.1262G>A (p.Cys421Tyr) c.1424G>A (p.Cys475Tyr) | |
| X | g.50086725G>C | CA413186073 | CLCN5 | c.1412G>C (p.Cys471Ser) c.662G>C (p.Cys221Ser) c.1202G>C (p.Cys401Ser) c.1699G>C c.*587G>C (n.*587G>C) c.1262G>C (p.Cys421Ser) c.1424G>C (p.Cys475Ser) | |
| X | g.50086725G>T | CA413186075 | CLCN5 | c.1412G>T (p.Cys471Phe) c.662G>T (p.Cys221Phe) c.1202G>T (p.Cys401Phe) c.1699G>T c.*587G>T (n.*587G>T) c.1262G>T (p.Cys421Phe) c.1424G>T (p.Cys475Phe) | |
| X | g.50086726T>A | CA413186078 | CLCN5 | c.1413T>A (p.Cys471Ter) c.663T>A (p.Cys221Ter) c.1203T>A (p.Cys401Ter) c.1700T>A c.*588T>A (n.*588T>A) c.1263T>A (p.Cys421Ter) c.1425T>A (p.Cys475Ter) | |
| X | g.50086726T>C | CA516678528 | CLCN5 | c.1413T>C (p.Cys471=) c.663T>C (p.Cys221=) c.1203T>C (p.Cys401=) c.1700T>C c.*588T>C (n.*588T>C) c.1263T>C (p.Cys421=) c.1425T>C (p.Cys475=) | |
| X | g.50086726T>G | CA413186080 | CLCN5 | c.1413T>G (p.Cys471Trp) c.663T>G (p.Cys221Trp) c.1203T>G (p.Cys401Trp) c.1700T>G c.*588T>G (n.*588T>G) c.1263T>G (p.Cys421Trp) c.1425T>G (p.Cys475Trp) | |
| X | g.50086727G>A | CA413186082 | CLCN5 | c.1414G>A (p.Asp472Asn) c.664G>A (p.Asp222Asn) c.1204G>A (p.Asp402Asn) c.1701G>A c.*589G>A (n.*589G>A) c.1264G>A (p.Asp422Asn) c.1426G>A (p.Asp476Asn) | |
| X | g.50086727G>C | CA413186084 | CLCN5 | c.1414G>C (p.Asp472His) c.664G>C (p.Asp222His) c.1204G>C (p.Asp402His) c.1701G>C c.*589G>C (n.*589G>C) c.1264G>C (p.Asp422His) c.1426G>C (p.Asp476His) | |
| X | g.50086727G>T | CA413186085 | CLCN5 | c.1414G>T (p.Asp472Tyr) c.664G>T (p.Asp222Tyr) c.1204G>T (p.Asp402Tyr) c.1701G>T c.*589G>T (n.*589G>T) c.1264G>T (p.Asp422Tyr) c.1426G>T (p.Asp476Tyr) | |
| X | g.50086728A>C | CA413186087 | CLCN5 | c.1415A>C (p.Asp472Ala) c.665A>C (p.Asp222Ala) c.1205A>C (p.Asp402Ala) c.1702A>C c.*590A>C (n.*590A>C) c.1265A>C (p.Asp422Ala) c.1427A>C (p.Asp476Ala) | |
| X | g.50086728A>G | CA413186089 | CLCN5 | c.1415A>G (p.Asp472Gly) c.665A>G (p.Asp222Gly) c.1205A>G (p.Asp402Gly) c.1702A>G c.*590A>G (n.*590A>G) c.1265A>G (p.Asp422Gly) c.1427A>G (p.Asp476Gly) | |
| X | g.50086728A>T | CA413186091 | CLCN5 | c.1415A>T (p.Asp472Val) c.665A>T (p.Asp222Val) c.1205A>T (p.Asp402Val) c.1702A>T c.*590A>T (n.*590A>T) c.1265A>T (p.Asp422Val) c.1427A>T (p.Asp476Val) | |
| X | g.50086729T>A | CA413186093 | CLCN5 | c.1416T>A (p.Asp472Glu) c.666T>A (p.Asp222Glu) c.1206T>A (p.Asp402Glu) c.1703T>A c.*591T>A (n.*591T>A) c.1266T>A (p.Asp422Glu) c.1428T>A (p.Asp476Glu) | |
| X | g.50086729T>C | CA516678530 | CLCN5 | c.1416T>C (p.Asp472=) c.666T>C (p.Asp222=) c.1206T>C (p.Asp402=) c.1703T>C c.*591T>C (n.*591T>C) c.1266T>C (p.Asp422=) c.1428T>C (p.Asp476=) | |
| X | g.50086729T>G | CA413186095 | CLCN5 | c.1416T>G (p.Asp472Glu) c.666T>G (p.Asp222Glu) c.1206T>G (p.Asp402Glu) c.1703T>G c.*591T>G (n.*591T>G) c.1266T>G (p.Asp422Glu) c.1428T>G (p.Asp476Glu) | |
| X | g.50086730T>A | CA413186098 | CLCN5 | c.1417T>A (p.Tyr473Asn) c.667T>A (p.Tyr223Asn) c.1207T>A (p.Tyr403Asn) c.1704T>A c.*592T>A (n.*592T>A) c.1267T>A (p.Tyr423Asn) c.1429T>A (p.Tyr477Asn) | |
| X | g.50086730T>C | CA413186100 | CLCN5 | c.1417T>C (p.Tyr473His) c.667T>C (p.Tyr223His) c.1207T>C (p.Tyr403His) c.1704T>C c.*592T>C (n.*592T>C) c.1267T>C (p.Tyr423His) c.1429T>C (p.Tyr477His) | |
| X | g.50086730T>G | CA413186102 | CLCN5 | c.1417T>G (p.Tyr473Asp) c.667T>G (p.Tyr223Asp) c.1207T>G (p.Tyr403Asp) c.1704T>G c.*592T>G (n.*592T>G) c.1267T>G (p.Tyr423Asp) c.1429T>G (p.Tyr477Asp) | |
| X | g.50086731del | CA2695233689 | CLCN5 | c.1418del (p.Tyr473LeufsTer?) c.668del (p.Tyr223LeufsTer?) c.1208del (p.Tyr403LeufsTer?) c.1705del c.*593del (n.*593del) c.1268del (p.Tyr423LeufsTer?) c.1430del (p.Tyr477LeufsTer?) | |
| X | g.50086731A= | CA2428768952 | CLCN5 | c.1418A= (p.Tyr473=) c.668A= (p.Tyr223=) c.1208A= (p.Tyr403=) c.1705A= c.*593A= (n.*593A=) c.1268A= (p.Tyr423=) c.1430A= (p.Tyr477=) | |
| X | g.50086731A>C | CA413186104 | CLCN5 | c.1418A>C (p.Tyr473Ser) c.668A>C (p.Tyr223Ser) c.1208A>C (p.Tyr403Ser) c.1705A>C c.*593A>C (n.*593A>C) c.1268A>C (p.Tyr423Ser) c.1430A>C (p.Tyr477Ser) | |
| X | g.50086731A>G | CA413186106 | CLCN5 | c.1418A>G (p.Tyr473Cys) c.668A>G (p.Tyr223Cys) c.1208A>G (p.Tyr403Cys) c.1705A>G c.*593A>G (n.*593A>G) c.1268A>G (p.Tyr423Cys) c.1430A>G (p.Tyr477Cys) | dbSNP |
| X | g.50086731A>T | CA413186107 | CLCN5 | c.1418A>T (p.Tyr473Phe) c.668A>T (p.Tyr223Phe) c.1208A>T (p.Tyr403Phe) c.1705A>T c.*593A>T (n.*593A>T) c.1268A>T (p.Tyr423Phe) c.1430A>T (p.Tyr477Phe) | |
| X | g.50086732T>A | CA413186109 | CLCN5 | c.1419T>A (p.Tyr473Ter) c.669T>A (p.Tyr223Ter) c.1209T>A (p.Tyr403Ter) c.1706T>A c.*594T>A (n.*594T>A) c.1269T>A (p.Tyr423Ter) c.1431T>A (p.Tyr477Ter) | |
| X | g.50086732T>C | CA10413872 | CLCN5 | c.1419T>C (p.Tyr473=) c.669T>C (p.Tyr223=) c.1209T>C (p.Tyr403=) c.1706T>C c.*594T>C (n.*594T>C) c.1269T>C (p.Tyr423=) c.1431T>C (p.Tyr477=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50086732T>G | CA413186111 | CLCN5 | c.1419T>G (p.Tyr473Ter) c.669T>G (p.Tyr223Ter) c.1209T>G (p.Tyr403Ter) c.1706T>G c.*594T>G (n.*594T>G) c.1269T>G (p.Tyr423Ter) c.1431T>G (p.Tyr477Ter) | |
| X | g.50086732T= | CA2428768953 | CLCN5 | c.1419T= (p.Tyr473=) c.669T= (p.Tyr223=) c.1209T= (p.Tyr403=) c.1706T= c.*594T= (n.*594T=) c.1269T= (p.Tyr423=) c.1431T= (p.Tyr477=) | |
| X | g.50086733G>A | CA413186114 | CLCN5 | c.1420G>A (p.Glu474Lys) c.670G>A (p.Glu224Lys) c.1210G>A (p.Glu404Lys) c.1707G>A c.*595G>A (n.*595G>A) c.1270G>A (p.Glu424Lys) c.1432G>A (p.Glu478Lys) | ClinVar gnomAD v4 |
| X | g.50086733G>C | CA413186116 | CLCN5 | c.1420G>C (p.Glu474Gln) c.670G>C (p.Glu224Gln) c.1210G>C (p.Glu404Gln) c.1707G>C c.*595G>C (n.*595G>C) c.1270G>C (p.Glu424Gln) c.1432G>C (p.Glu478Gln) | |
| X | g.50086733G>T | CA413186118 | CLCN5 | c.1420G>T (p.Glu474Ter) c.670G>T (p.Glu224Ter) c.1210G>T (p.Glu404Ter) c.1707G>T c.*595G>T (n.*595G>T) c.1270G>T (p.Glu424Ter) c.1432G>T (p.Glu478Ter) | |
| X | g.50086734A>C | CA413186121 | CLCN5 | c.1421A>C (p.Glu474Ala) c.671A>C (p.Glu224Ala) c.1211A>C (p.Glu404Ala) c.1708A>C c.*596A>C (n.*596A>C) c.1271A>C (p.Glu424Ala) c.1433A>C (p.Glu478Ala) | |
| X | g.50086734A>G | CA413186124 | CLCN5 | c.1421A>G (p.Glu474Gly) c.671A>G (p.Glu224Gly) c.1211A>G (p.Glu404Gly) c.1708A>G c.*596A>G (n.*596A>G) c.1271A>G (p.Glu424Gly) c.1433A>G (p.Glu478Gly) | |
| X | g.50086734A>T | CA413186122 | CLCN5 | c.1421A>T (p.Glu474Val) c.671A>T (p.Glu224Val) c.1211A>T (p.Glu404Val) c.1708A>T c.*596A>T (n.*596A>T) c.1271A>T (p.Glu424Val) c.1433A>T (p.Glu478Val) | |
| X | g.50086735G>A | CA10413873 | CLCN5 | c.1422G>A (p.Glu474=) c.672G>A (p.Glu224=) c.1212G>A (p.Glu404=) c.1709G>A c.*597G>A (n.*597G>A) c.1272G>A (p.Glu424=) c.1434G>A (p.Glu478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086735G>C | CA413186129 | CLCN5 | c.1422G>C (p.Glu474Asp) c.672G>C (p.Glu224Asp) c.1212G>C (p.Glu404Asp) c.1709G>C c.*597G>C (n.*597G>C) c.1272G>C (p.Glu424Asp) c.1434G>C (p.Glu478Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.50086735G= | CA2428768954 | CLCN5 | c.1422G= (p.Glu474=) c.672G= (p.Glu224=) c.1212G= (p.Glu404=) c.1709G= c.*597G= (n.*597G=) c.1272G= (p.Glu424=) c.1434G= (p.Glu478=) | |
| X | g.50086735G>T | CA413186127 | CLCN5 | c.1422G>T (p.Glu474Asp) c.672G>T (p.Glu224Asp) c.1212G>T (p.Glu404Asp) c.1709G>T c.*597G>T (n.*597G>T) c.1272G>T (p.Glu424Asp) c.1434G>T (p.Glu478Asp) | |
| X | g.50086736A= | CA2428768955 | CLCN5 | c.1423A= (p.Asn475=) c.673A= (p.Asn225=) c.1213A= (p.Asn405=) c.1710A= c.*598A= (n.*598A=) c.1273A= (p.Asn425=) c.1435A= (p.Asn479=) | |
| X | g.50086736A>C | CA413186130 | CLCN5 | c.1423A>C (p.Asn475His) c.673A>C (p.Asn225His) c.1213A>C (p.Asn405His) c.1710A>C c.*598A>C (n.*598A>C) c.1273A>C (p.Asn425His) c.1435A>C (p.Asn479His) | |
| X | g.50086736A>G | CA10413874 | CLCN5 | c.1423A>G (p.Asn475Asp) c.673A>G (p.Asn225Asp) c.1213A>G (p.Asn405Asp) c.1710A>G c.*598A>G (n.*598A>G) c.1273A>G (p.Asn425Asp) c.1435A>G (p.Asn479Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086736A>T | CA413186133 | CLCN5 | c.1423A>T (p.Asn475Tyr) c.673A>T (p.Asn225Tyr) c.1213A>T (p.Asn405Tyr) c.1710A>T c.*598A>T (n.*598A>T) c.1273A>T (p.Asn425Tyr) c.1435A>T (p.Asn479Tyr) | |
| X | g.50086737A>C | CA413186136 | CLCN5 | c.1424A>C (p.Asn475Thr) c.674A>C (p.Asn225Thr) c.1214A>C (p.Asn405Thr) c.1711A>C c.*599A>C (n.*599A>C) c.1274A>C (p.Asn425Thr) c.1436A>C (p.Asn479Thr) | |
| X | g.50086737A>G | CA413186138 | CLCN5 | c.1424A>G (p.Asn475Ser) c.674A>G (p.Asn225Ser) c.1214A>G (p.Asn405Ser) c.1711A>G c.*599A>G (n.*599A>G) c.1274A>G (p.Asn425Ser) c.1436A>G (p.Asn479Ser) | |
| X | g.50086737A>T | CA413186140 | CLCN5 | c.1424A>T (p.Asn475Ile) c.674A>T (p.Asn225Ile) c.1214A>T (p.Asn405Ile) c.1711A>T c.*599A>T (n.*599A>T) c.1274A>T (p.Asn425Ile) c.1436A>T (p.Asn479Ile) | |
| X | g.50086738C>A | CA413186142 | CLCN5 | c.1425C>A (p.Asn475Lys) c.675C>A (p.Asn225Lys) c.1215C>A (p.Asn405Lys) c.1712C>A c.*600C>A (n.*600C>A) c.1275C>A (p.Asn425Lys) c.1437C>A (p.Asn479Lys) | |
| X | g.50086738C= | CA2428768956 | CLCN5 | c.1425C= (p.Asn475=) c.675C= (p.Asn225=) c.1215C= (p.Asn405=) c.1712C= c.*600C= (n.*600C=) c.1275C= (p.Asn425=) c.1437C= (p.Asn479=) | |
| X | g.50086738C>G | CA413186144 | CLCN5 | c.1425C>G (p.Asn475Lys) c.675C>G (p.Asn225Lys) c.1215C>G (p.Asn405Lys) c.1712C>G c.*600C>G (n.*600C>G) c.1275C>G (p.Asn425Lys) c.1437C>G (p.Asn479Lys) | |
| X | g.50086738C>T | CA10413875 | CLCN5 | c.1425C>T (p.Asn475=) c.675C>T (p.Asn225=) c.1215C>T (p.Asn405=) c.1712C>T c.*600C>T (n.*600C>T) c.1275C>T (p.Asn425=) c.1437C>T (p.Asn479=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50086739C>A | CA413186148 | CLCN5 | c.1426C>A (p.Arg476Ser) c.676C>A (p.Arg226Ser) c.1216C>A (p.Arg406Ser) c.1713C>A c.*601C>A (n.*601C>A) c.1276C>A (p.Arg426Ser) c.1438C>A (p.Arg480Ser) | |
| X | g.50086739C= | CA2428768957 | CLCN5 | c.1426C= (p.Arg476=) c.676C= (p.Arg226=) c.1216C= (p.Arg406=) c.1713C= c.*601C= (n.*601C=) c.1276C= (p.Arg426=) c.1438C= (p.Arg480=) | |
| X | g.50086739C>G | CA413186150 | CLCN5 | c.1426C>G (p.Arg476Gly) c.676C>G (p.Arg226Gly) c.1216C>G (p.Arg406Gly) c.1713C>G c.*601C>G (n.*601C>G) c.1276C>G (p.Arg426Gly) c.1438C>G (p.Arg480Gly) | |
| X | g.50086739C>T | CA10413876 | CLCN5 | c.1426C>T (p.Arg476Cys) c.676C>T (p.Arg226Cys) c.1216C>T (p.Arg406Cys) c.1713C>T c.*601C>T (n.*601C>T) c.1276C>T (p.Arg426Cys) c.1438C>T (p.Arg480Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086740G>A | CA10413877 | CLCN5 | c.1427G>A (p.Arg476His) c.677G>A (p.Arg226His) c.1217G>A (p.Arg406His) c.1714G>A c.*602G>A (n.*602G>A) c.1277G>A (p.Arg426His) c.1439G>A (p.Arg480His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.50086740G>C | CA413186154 | CLCN5 | c.1427G>C (p.Arg476Pro) c.677G>C (p.Arg226Pro) c.1217G>C (p.Arg406Pro) c.1714G>C c.*602G>C (n.*602G>C) c.1277G>C (p.Arg426Pro) c.1439G>C (p.Arg480Pro) | |
| X | g.50086740G= | CA2428768958 | CLCN5 | c.1427G= (p.Arg476=) c.677G= (p.Arg226=) c.1217G= (p.Arg406=) c.1714G= c.*602G= (n.*602G=) c.1277G= (p.Arg426=) c.1439G= (p.Arg480=) | |
| X | g.50086740G>T | CA413186156 | CLCN5 | c.1427G>T (p.Arg476Leu) c.677G>T (p.Arg226Leu) c.1217G>T (p.Arg406Leu) c.1714G>T c.*602G>T (n.*602G>T) c.1277G>T (p.Arg426Leu) c.1439G>T (p.Arg480Leu) |