| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50086530T>A | CA413185445 | CLCN5 | c.1217T>A (p.Phe406Tyr) c.467T>A (p.Phe156Tyr) c.1007T>A (p.Phe336Tyr) c.1504T>A c.*392T>A (n.*392T>A) c.1067T>A (p.Phe356Tyr) c.1229T>A (p.Phe410Tyr) | |
| X | g.50086530T>C | CA413185444 | CLCN5 | c.1217T>C (p.Phe406Ser) c.467T>C (p.Phe156Ser) c.1007T>C (p.Phe336Ser) c.1504T>C c.*392T>C (n.*392T>C) c.1067T>C (p.Phe356Ser) c.1229T>C (p.Phe410Ser) | |
| X | g.50086530T>G | CA413185443 | CLCN5 | c.1217T>G (p.Phe406Cys) c.467T>G (p.Phe156Cys) c.1007T>G (p.Phe336Cys) c.1504T>G c.*392T>G (n.*392T>G) c.1067T>G (p.Phe356Cys) c.1229T>G (p.Phe410Cys) | |
| X | g.50086530_50086535del | CA2693737104 | CLCN5 | c.1217_1222del (p.Phe406_Arg408delinsCys) c.467_472del (p.Phe156_Arg158delinsCys) c.1007_1012del (p.Phe336_Arg338delinsCys) c.1504_1509del c.*392_*397del (n.*392_*397del) c.1067_1072del (p.Phe356_Arg358delinsCys) c.1229_1234del (p.Phe410_Arg412delinsCys) | gnomAD v4 |
| X | g.50086531T>A | CA413185446 | CLCN5 | c.1218T>A (p.Phe406Leu) c.468T>A (p.Phe156Leu) c.1008T>A (p.Phe336Leu) c.1505T>A c.*393T>A (n.*393T>A) c.1068T>A (p.Phe356Leu) c.1230T>A (p.Phe410Leu) | |
| X | g.50086531T>C | CA516678456 | CLCN5 | c.1218T>C (p.Phe406=) c.468T>C (p.Phe156=) c.1008T>C (p.Phe336=) c.1505T>C c.*393T>C (n.*393T>C) c.1068T>C (p.Phe356=) c.1230T>C (p.Phe410=) | dbSNP |
| X | g.50086531T>G | CA413185447 | CLCN5 | c.1218T>G (p.Phe406Leu) c.468T>G (p.Phe156Leu) c.1008T>G (p.Phe336Leu) c.1505T>G c.*393T>G (n.*393T>G) c.1068T>G (p.Phe356Leu) c.1230T>G (p.Phe410Leu) | |
| X | g.50086531T= | CA2428768892 | CLCN5 | c.1218T= (p.Phe406=) c.468T= (p.Phe156=) c.1008T= (p.Phe336=) c.1505T= c.*393T= (n.*393T=) c.1068T= (p.Phe356=) c.1230T= (p.Phe410=) | |
| X | g.50086532A>C | CA413185448 | CLCN5 | c.1219A>C (p.Ile407Leu) c.469A>C (p.Ile157Leu) c.1009A>C (p.Ile337Leu) c.1506A>C c.*394A>C (n.*394A>C) c.1069A>C (p.Ile357Leu) c.1231A>C (p.Ile411Leu) | |
| X | g.50086532A>G | CA413185449 | CLCN5 | c.1219A>G (p.Ile407Val) c.469A>G (p.Ile157Val) c.1009A>G (p.Ile337Val) c.1506A>G c.*394A>G (n.*394A>G) c.1069A>G (p.Ile357Val) c.1231A>G (p.Ile411Val) | |
| X | g.50086532A>T | CA413185450 | CLCN5 | c.1219A>T (p.Ile407Phe) c.469A>T (p.Ile157Phe) c.1009A>T (p.Ile337Phe) c.1506A>T c.*394A>T (n.*394A>T) c.1069A>T (p.Ile357Phe) c.1231A>T (p.Ile411Phe) | |
| X | g.50086533T>A | CA413185451 | CLCN5 | c.1220T>A (p.Ile407Asn) c.470T>A (p.Ile157Asn) c.1010T>A (p.Ile337Asn) c.1507T>A c.*395T>A (n.*395T>A) c.1070T>A (p.Ile357Asn) c.1232T>A (p.Ile411Asn) | |
| X | g.50086533T>C | CA413185452 | CLCN5 | c.1220T>C (p.Ile407Thr) c.470T>C (p.Ile157Thr) c.1010T>C (p.Ile337Thr) c.1507T>C c.*395T>C (n.*395T>C) c.1070T>C (p.Ile357Thr) c.1232T>C (p.Ile411Thr) | |
| X | g.50086533T>G | CA413185453 | CLCN5 | c.1220T>G (p.Ile407Ser) c.470T>G (p.Ile157Ser) c.1010T>G (p.Ile337Ser) c.1507T>G c.*395T>G (n.*395T>G) c.1070T>G (p.Ile357Ser) c.1232T>G (p.Ile411Ser) | |
| X | g.50086534C>A | CA516678459 | CLCN5 | c.1221C>A (p.Ile407=) c.471C>A (p.Ile157=) c.1011C>A (p.Ile337=) c.1508C>A c.*396C>A (n.*396C>A) c.1071C>A (p.Ile357=) c.1233C>A (p.Ile411=) | |
| X | g.50086534C>G | CA413185454 | CLCN5 | c.1221C>G (p.Ile407Met) c.471C>G (p.Ile157Met) c.1011C>G (p.Ile337Met) c.1508C>G c.*396C>G (n.*396C>G) c.1071C>G (p.Ile357Met) c.1233C>G (p.Ile411Met) | |
| X | g.50086534C>T | CA516678460 | CLCN5 | c.1221C>T (p.Ile407=) c.471C>T (p.Ile157=) c.1011C>T (p.Ile337=) c.1508C>T c.*396C>T (n.*396C>T) c.1071C>T (p.Ile357=) c.1233C>T (p.Ile411=) | |
| X | g.50086535C>A | CA413185455 | CLCN5 | c.1222C>A (p.Arg408Ser) c.472C>A (p.Arg158Ser) c.1012C>A (p.Arg338Ser) c.1509C>A c.*397C>A (n.*397C>A) c.1072C>A (p.Arg358Ser) c.1234C>A (p.Arg412Ser) | |
| X | g.50086535C= | CA2428768893 | CLCN5 | c.1222C= (p.Arg408=) c.472C= (p.Arg158=) c.1012C= (p.Arg338=) c.1509C= c.*397C= (n.*397C=) c.1072C= (p.Arg358=) c.1234C= (p.Arg412=) | |
| X | g.50086535C>G | CA413185456 | CLCN5 | c.1222C>G (p.Arg408Gly) c.472C>G (p.Arg158Gly) c.1012C>G (p.Arg338Gly) c.1509C>G c.*397C>G (n.*397C>G) c.1072C>G (p.Arg358Gly) c.1234C>G (p.Arg412Gly) | |
| X | g.50086535C>T | CA10413848 | CLCN5 | c.1222C>T (p.Arg408Cys) c.472C>T (p.Arg158Cys) c.1012C>T (p.Arg338Cys) c.1509C>T c.*397C>T (n.*397C>T) c.1072C>T (p.Arg358Cys) c.1234C>T (p.Arg412Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.50086536G>A | CA10413849 | CLCN5 | c.1223G>A (p.Arg408His) c.473G>A (p.Arg158His) c.1013G>A (p.Arg338His) c.1510G>A c.*398G>A (n.*398G>A) c.1073G>A (p.Arg358His) c.1235G>A (p.Arg412His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086536G>C | CA413185457 | CLCN5 | c.1223G>C (p.Arg408Pro) c.473G>C (p.Arg158Pro) c.1013G>C (p.Arg338Pro) c.1510G>C c.*398G>C (n.*398G>C) c.1073G>C (p.Arg358Pro) c.1235G>C (p.Arg412Pro) | |
| X | g.50086536G= | CA2428768894 | CLCN5 | c.1223G= (p.Arg408=) c.473G= (p.Arg158=) c.1013G= (p.Arg338=) c.1510G= c.*398G= (n.*398G=) c.1073G= (p.Arg358=) c.1235G= (p.Arg412=) | |
| X | g.50086536G>T | CA413185458 | CLCN5 | c.1223G>T (p.Arg408Leu) c.473G>T (p.Arg158Leu) c.1013G>T (p.Arg338Leu) c.1510G>T c.*398G>T (n.*398G>T) c.1073G>T (p.Arg358Leu) c.1235G>T (p.Arg412Leu) | |
| X | g.50086537C>A | CA516678466 | CLCN5 | c.1224C>A (p.Arg408=) c.474C>A (p.Arg158=) c.1014C>A (p.Arg338=) c.1511C>A c.*399C>A (n.*399C>A) c.1074C>A (p.Arg358=) c.1236C>A (p.Arg412=) | |
| X | g.50086537C= | CA2428768895 | CLCN5 | c.1224C= (p.Arg408=) c.474C= (p.Arg158=) c.1014C= (p.Arg338=) c.1511C= c.*399C= (n.*399C=) c.1074C= (p.Arg358=) c.1236C= (p.Arg412=) | |
| X | g.50086537C>G | CA516678463 | CLCN5 | c.1224C>G (p.Arg408=) c.474C>G (p.Arg158=) c.1014C>G (p.Arg338=) c.1511C>G c.*399C>G (n.*399C>G) c.1074C>G (p.Arg358=) c.1236C>G (p.Arg412=) | |
| X | g.50086537C>T | CA516678465 | CLCN5 | c.1224C>T (p.Arg408=) c.474C>T (p.Arg158=) c.1014C>T (p.Arg338=) c.1511C>T c.*399C>T (n.*399C>T) c.1074C>T (p.Arg358=) c.1236C>T (p.Arg412=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086538A= | CA2428768896 | CLCN5 | c.1225A= (p.Thr409=) c.475A= (p.Thr159=) c.1015A= (p.Thr339=) c.1512A= c.*400A= (n.*400A=) c.1075A= (p.Thr359=) c.1237A= (p.Thr413=) | |
| X | g.50086538A>C | CA413185459 | CLCN5 | c.1225A>C (p.Thr409Pro) c.475A>C (p.Thr159Pro) c.1015A>C (p.Thr339Pro) c.1512A>C c.*400A>C (n.*400A>C) c.1075A>C (p.Thr359Pro) c.1237A>C (p.Thr413Pro) | |
| X | g.50086538A>G | CA413185460 | CLCN5 | c.1225A>G (p.Thr409Ala) c.475A>G (p.Thr159Ala) c.1015A>G (p.Thr339Ala) c.1512A>G c.*400A>G (n.*400A>G) c.1075A>G (p.Thr359Ala) c.1237A>G (p.Thr413Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50086538A>T | CA413185461 | CLCN5 | c.1225A>T (p.Thr409Ser) c.475A>T (p.Thr159Ser) c.1015A>T (p.Thr339Ser) c.1512A>T c.*400A>T (n.*400A>T) c.1075A>T (p.Thr359Ser) c.1237A>T (p.Thr413Ser) | |
| X | g.50086539C>A | CA413185462 | CLCN5 | c.1226C>A (p.Thr409Lys) c.476C>A (p.Thr159Lys) c.1016C>A (p.Thr339Lys) c.1513C>A c.*401C>A (n.*401C>A) c.1076C>A (p.Thr359Lys) c.1238C>A (p.Thr413Lys) | |
| X | g.50086539C>G | CA413185463 | CLCN5 | c.1226C>G (p.Thr409Arg) c.476C>G (p.Thr159Arg) c.1016C>G (p.Thr339Arg) c.1513C>G c.*401C>G (n.*401C>G) c.1076C>G (p.Thr359Arg) c.1238C>G (p.Thr413Arg) | |
| X | g.50086539C>T | CA413185464 | CLCN5 | c.1226C>T (p.Thr409Ile) c.476C>T (p.Thr159Ile) c.1016C>T (p.Thr339Ile) c.1513C>T c.*401C>T (n.*401C>T) c.1076C>T (p.Thr359Ile) c.1238C>T (p.Thr413Ile) | gnomAD v4 |
| X | g.50086539dup | CA2693737105 | CLCN5 | c.1226dup (p.Asn410LysfsTer?) c.476dup (p.Asn160LysfsTer?) c.1016dup (p.Asn340LysfsTer?) c.1513dup c.*401dup (n.*401dup) c.1076dup (p.Asn360LysfsTer?) c.1238dup (p.Asn414LysfsTer?) | gnomAD v4 |
| X | g.50086540A>C | CA516678470 | CLCN5 | c.1227A>C (p.Thr409=) c.477A>C (p.Thr159=) c.1017A>C (p.Thr339=) c.1514A>C c.*402A>C (n.*402A>C) c.1077A>C (p.Thr359=) c.1239A>C (p.Thr413=) | |
| X | g.50086540A>G | CA516678472 | CLCN5 | c.1227A>G (p.Thr409=) c.477A>G (p.Thr159=) c.1017A>G (p.Thr339=) c.1514A>G c.*402A>G (n.*402A>G) c.1077A>G (p.Thr359=) c.1239A>G (p.Thr413=) | |
| X | g.50086540A>T | CA516678473 | CLCN5 | c.1227A>T (p.Thr409=) c.477A>T (p.Thr159=) c.1017A>T (p.Thr339=) c.1514A>T c.*402A>T (n.*402A>T) c.1077A>T (p.Thr359=) c.1239A>T (p.Thr413=) | |
| X | g.50086541A>C | CA413185465 | CLCN5 | c.1228A>C (p.Asn410His) c.478A>C (p.Asn160His) c.1018A>C (p.Asn340His) c.1515A>C c.*403A>C (n.*403A>C) c.1078A>C (p.Asn360His) c.1240A>C (p.Asn414His) | |
| X | g.50086541A>G | CA413185466 | CLCN5 | c.1228A>G (p.Asn410Asp) c.478A>G (p.Asn160Asp) c.1018A>G (p.Asn340Asp) c.1515A>G c.*403A>G (n.*403A>G) c.1078A>G (p.Asn360Asp) c.1240A>G (p.Asn414Asp) | |
| X | g.50086541A>T | CA413185467 | CLCN5 | c.1228A>T (p.Asn410Tyr) c.478A>T (p.Asn160Tyr) c.1018A>T (p.Asn340Tyr) c.1515A>T c.*403A>T (n.*403A>T) c.1078A>T (p.Asn360Tyr) c.1240A>T (p.Asn414Tyr) | |
| X | g.50086542A= | CA2428768897 | CLCN5 | c.1229A= (p.Asn410=) c.479A= (p.Asn160=) c.1019A= (p.Asn340=) c.1516A= c.*404A= (n.*404A=) c.1079A= (p.Asn360=) c.1241A= (p.Asn414=) | |
| X | g.50086542A>C | CA413185468 | CLCN5 | c.1229A>C (p.Asn410Thr) c.479A>C (p.Asn160Thr) c.1019A>C (p.Asn340Thr) c.1516A>C c.*404A>C (n.*404A>C) c.1079A>C (p.Asn360Thr) c.1241A>C (p.Asn414Thr) | |
| X | g.50086542A>G | CA413185469 | CLCN5 | c.1229A>G (p.Asn410Ser) c.479A>G (p.Asn160Ser) c.1019A>G (p.Asn340Ser) c.1516A>G c.*404A>G (n.*404A>G) c.1079A>G (p.Asn360Ser) c.1241A>G (p.Asn414Ser) | |
| X | g.50086542A>T | CA413185470 | CLCN5 | c.1229A>T (p.Asn410Ile) c.479A>T (p.Asn160Ile) c.1019A>T (p.Asn340Ile) c.1516A>T c.*404A>T (n.*404A>T) c.1079A>T (p.Asn360Ile) c.1241A>T (p.Asn414Ile) | dbSNP |
| X | g.50086543C>A | CA343836 | CLCN5 | c.1230C>A (p.Asn410Lys) c.480C>A (p.Asn160Lys) c.1020C>A (p.Asn340Lys) c.1517C>A c.*405C>A (n.*405C>A) c.1080C>A (p.Asn360Lys) c.1242C>A (p.Asn414Lys) | ClinVar dbSNP |
| X | g.50086543C= | CA2428768898 | CLCN5 | c.1230C= (p.Asn410=) c.480C= (p.Asn160=) c.1020C= (p.Asn340=) c.1517C= c.*405C= (n.*405C=) c.1080C= (p.Asn360=) c.1242C= (p.Asn414=) | |
| X | g.50086543C>G | CA413185471 | CLCN5 | c.1230C>G (p.Asn410Lys) c.480C>G (p.Asn160Lys) c.1020C>G (p.Asn340Lys) c.1517C>G c.*405C>G (n.*405C>G) c.1080C>G (p.Asn360Lys) c.1242C>G (p.Asn414Lys) | |
| X | g.50086543C>T | CA516678476 | CLCN5 | c.1230C>T (p.Asn410=) c.480C>T (p.Asn160=) c.1020C>T (p.Asn340=) c.1517C>T c.*405C>T (n.*405C>T) c.1080C>T (p.Asn360=) c.1242C>T (p.Asn414=) | |
| X | g.50086544A= | CA2428768899 | CLCN5 | c.1231A= (p.Ile411=) c.481A= (p.Ile161=) c.1021A= (p.Ile341=) c.1518A= c.*406A= (n.*406A=) c.1081A= (p.Ile361=) c.1243A= (p.Ile415=) | |
| X | g.50086544A>C | CA413185472 | CLCN5 | c.1231A>C (p.Ile411Leu) c.481A>C (p.Ile161Leu) c.1021A>C (p.Ile341Leu) c.1518A>C c.*406A>C (n.*406A>C) c.1081A>C (p.Ile361Leu) c.1243A>C (p.Ile415Leu) | |
| X | g.50086544A>G | CA413185474 | CLCN5 | c.1231A>G (p.Ile411Val) c.481A>G (p.Ile161Val) c.1021A>G (p.Ile341Val) c.1518A>G c.*406A>G (n.*406A>G) c.1081A>G (p.Ile361Val) c.1243A>G (p.Ile415Val) | dbSNP |
| X | g.50086544A>T | CA413185473 | CLCN5 | c.1231A>T (p.Ile411Phe) c.481A>T (p.Ile161Phe) c.1021A>T (p.Ile341Phe) c.1518A>T c.*406A>T (n.*406A>T) c.1081A>T (p.Ile361Phe) c.1243A>T (p.Ile415Phe) | |
| X | g.50086545T>A | CA413185475 | CLCN5 | c.1232T>A (p.Ile411Asn) c.482T>A (p.Ile161Asn) c.1022T>A (p.Ile341Asn) c.1519T>A c.*407T>A (n.*407T>A) c.1082T>A (p.Ile361Asn) c.1244T>A (p.Ile415Asn) | |
| X | g.50086545T>C | CA413185476 | CLCN5 | c.1232T>C (p.Ile411Thr) c.482T>C (p.Ile161Thr) c.1022T>C (p.Ile341Thr) c.1519T>C c.*407T>C (n.*407T>C) c.1082T>C (p.Ile361Thr) c.1244T>C (p.Ile415Thr) | |
| X | g.50086545T>G | CA413185477 | CLCN5 | c.1232T>G (p.Ile411Ser) c.482T>G (p.Ile161Ser) c.1022T>G (p.Ile341Ser) c.1519T>G c.*407T>G (n.*407T>G) c.1082T>G (p.Ile361Ser) c.1244T>G (p.Ile415Ser) | |
| X | g.50086546T>A | CA516678484 | CLCN5 | c.1233T>A (p.Ile411=) c.483T>A (p.Ile161=) c.1023T>A (p.Ile341=) c.1520T>A c.*408T>A (n.*408T>A) c.1083T>A (p.Ile361=) c.1245T>A (p.Ile415=) | |
| X | g.50086546T>C | CA516678485 | CLCN5 | c.1233T>C (p.Ile411=) c.483T>C (p.Ile161=) c.1023T>C (p.Ile341=) c.1520T>C c.*408T>C (n.*408T>C) c.1083T>C (p.Ile361=) c.1245T>C (p.Ile415=) | |
| X | g.50086546T>G | CA413185478 | CLCN5 | c.1233T>G (p.Ile411Met) c.483T>G (p.Ile161Met) c.1023T>G (p.Ile341Met) c.1520T>G c.*408T>G (n.*408T>G) c.1083T>G (p.Ile361Met) c.1245T>G (p.Ile415Met) | |
| X | g.50086547G>A | CA413185479 | CLCN5 | c.1234G>A (p.Ala412Thr) c.484G>A (p.Ala162Thr) c.1024G>A (p.Ala342Thr) c.1521G>A c.*409G>A (n.*409G>A) c.1084G>A (p.Ala362Thr) c.1246G>A (p.Ala416Thr) | |
| X | g.50086547G>C | CA413185480 | CLCN5 | c.1234G>C (p.Ala412Pro) c.484G>C (p.Ala162Pro) c.1024G>C (p.Ala342Pro) c.1521G>C c.*409G>C (n.*409G>C) c.1084G>C (p.Ala362Pro) c.1246G>C (p.Ala416Pro) | |
| X | g.50086547G>T | CA413185481 | CLCN5 | c.1234G>T (p.Ala412Ser) c.484G>T (p.Ala162Ser) c.1024G>T (p.Ala342Ser) c.1521G>T c.*409G>T (n.*409G>T) c.1084G>T (p.Ala362Ser) c.1246G>T (p.Ala416Ser) | |
| X | g.50086548C>A | CA413185482 | CLCN5 | c.1235C>A (p.Ala412Asp) c.485C>A (p.Ala162Asp) c.1025C>A (p.Ala342Asp) c.1522C>A c.*410C>A (n.*410C>A) c.1085C>A (p.Ala362Asp) c.1247C>A (p.Ala416Asp) | |
| X | g.50086548C>G | CA413185483 | CLCN5 | c.1235C>G (p.Ala412Gly) c.485C>G (p.Ala162Gly) c.1025C>G (p.Ala342Gly) c.1522C>G c.*410C>G (n.*410C>G) c.1085C>G (p.Ala362Gly) c.1247C>G (p.Ala416Gly) | |
| X | g.50086548C>T | CA413185484 | CLCN5 | c.1235C>T (p.Ala412Val) c.485C>T (p.Ala162Val) c.1025C>T (p.Ala342Val) c.1522C>T c.*410C>T (n.*410C>T) c.1085C>T (p.Ala362Val) c.1247C>T (p.Ala416Val) | |
| X | g.50086549C>A | CA516678493 | CLCN5 | c.1236C>A (p.Ala412=) c.486C>A (p.Ala162=) c.1026C>A (p.Ala342=) c.1523C>A c.*411C>A (n.*411C>A) c.1086C>A (p.Ala362=) c.1248C>A (p.Ala416=) | |
| X | g.50086549C= | CA2428768900 | CLCN5 | c.1236C= (p.Ala412=) c.486C= (p.Ala162=) c.1026C= (p.Ala342=) c.1523C= c.*411C= (n.*411C=) c.1086C= (p.Ala362=) c.1248C= (p.Ala416=) | |
| X | g.50086549C>G | CA516678494 | CLCN5 | c.1236C>G (p.Ala412=) c.486C>G (p.Ala162=) c.1026C>G (p.Ala342=) c.1523C>G c.*411C>G (n.*411C>G) c.1086C>G (p.Ala362=) c.1248C>G (p.Ala416=) | |
| X | g.50086549C>T | CA10413850 | CLCN5 | c.1236C>T (p.Ala412=) c.486C>T (p.Ala162=) c.1026C>T (p.Ala342=) c.1523C>T c.*411C>T (n.*411C>T) c.1086C>T (p.Ala362=) c.1248C>T (p.Ala416=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50086550T>A | CA413185487 | CLCN5 | c.1237T>A (p.Trp413Arg) c.487T>A (p.Trp163Arg) c.1027T>A (p.Trp343Arg) c.1524T>A c.*412T>A (n.*412T>A) c.1087T>A (p.Trp363Arg) c.1249T>A (p.Trp417Arg) | |
| X | g.50086550T>C | CA413185486 | CLCN5 | c.1237T>C (p.Trp413Arg) c.487T>C (p.Trp163Arg) c.1027T>C (p.Trp343Arg) c.1524T>C c.*412T>C (n.*412T>C) c.1087T>C (p.Trp363Arg) c.1249T>C (p.Trp417Arg) | |
| X | g.50086550T>G | CA413185485 | CLCN5 | c.1237T>G (p.Trp413Gly) c.487T>G (p.Trp163Gly) c.1027T>G (p.Trp343Gly) c.1524T>G c.*412T>G (n.*412T>G) c.1087T>G (p.Trp363Gly) c.1249T>G (p.Trp417Gly) | |
| X | g.50086551G>A | CA121684 | CLCN5 | c.1238G>A (p.Trp413Ter) c.488G>A (p.Trp163Ter) c.1028G>A (p.Trp343Ter) c.1525G>A c.*413G>A (n.*413G>A) c.1088G>A (p.Trp363Ter) c.1250G>A (p.Trp417Ter) | ClinVar dbSNP |
| X | g.50086551G>C | CA413185488 | CLCN5 | c.1238G>C (p.Trp413Ser) c.488G>C (p.Trp163Ser) c.1028G>C (p.Trp343Ser) c.1525G>C c.*413G>C (n.*413G>C) c.1088G>C (p.Trp363Ser) c.1250G>C (p.Trp417Ser) | |
| X | g.50086551G= | CA2428768901 | CLCN5 | c.1238G= (p.Trp413=) c.488G= (p.Trp163=) c.1028G= (p.Trp343=) c.1525G= c.*413G= (n.*413G=) c.1088G= (p.Trp363=) c.1250G= (p.Trp417=) | |
| X | g.50086551G>T | CA413185489 | CLCN5 | c.1238G>T (p.Trp413Leu) c.488G>T (p.Trp163Leu) c.1028G>T (p.Trp343Leu) c.1525G>T c.*413G>T (n.*413G>T) c.1088G>T (p.Trp363Leu) c.1250G>T (p.Trp417Leu) | |
| X | g.50086552G>A | CA413185490 | CLCN5 | c.1239G>A (p.Trp413Ter) c.489G>A (p.Trp163Ter) c.1029G>A (p.Trp343Ter) c.1526G>A c.*414G>A (n.*414G>A) c.1089G>A (p.Trp363Ter) c.1251G>A (p.Trp417Ter) | |
| X | g.50086552G>C | CA413185491 | CLCN5 | c.1239G>C (p.Trp413Cys) c.489G>C (p.Trp163Cys) c.1029G>C (p.Trp343Cys) c.1526G>C c.*414G>C (n.*414G>C) c.1089G>C (p.Trp363Cys) c.1251G>C (p.Trp417Cys) | |
| X | g.50086552G>T | CA413185492 | CLCN5 | c.1239G>T (p.Trp413Cys) c.489G>T (p.Trp163Cys) c.1029G>T (p.Trp343Cys) c.1526G>T c.*414G>T (n.*414G>T) c.1089G>T (p.Trp363Cys) c.1251G>T (p.Trp417Cys) | |
| X | g.50086553T>A | CA413185493 | CLCN5 | c.1240T>A (p.Cys414Ser) c.490T>A (p.Cys164Ser) c.1030T>A (p.Cys344Ser) c.1527T>A c.*415T>A (n.*415T>A) c.1090T>A (p.Cys364Ser) c.1252T>A (p.Cys418Ser) | |
| X | g.50086553T>C | CA413185494 | CLCN5 | c.1240T>C (p.Cys414Arg) c.490T>C (p.Cys164Arg) c.1030T>C (p.Cys344Arg) c.1527T>C c.*415T>C (n.*415T>C) c.1090T>C (p.Cys364Arg) c.1252T>C (p.Cys418Arg) | |
| X | g.50086553T>G | CA413185495 | CLCN5 | c.1240T>G (p.Cys414Gly) c.490T>G (p.Cys164Gly) c.1030T>G (p.Cys344Gly) c.1527T>G c.*415T>G (n.*415T>G) c.1090T>G (p.Cys364Gly) c.1252T>G (p.Cys418Gly) | |
| X | g.50086554G>A | CA413185496 | CLCN5 | c.1241G>A (p.Cys414Tyr) c.491G>A (p.Cys164Tyr) c.1031G>A (p.Cys344Tyr) c.1528G>A c.*416G>A (n.*416G>A) c.1091G>A (p.Cys364Tyr) c.1253G>A (p.Cys418Tyr) | |
| X | g.50086554G>C | CA413185497 | CLCN5 | c.1241G>C (p.Cys414Ser) c.491G>C (p.Cys164Ser) c.1031G>C (p.Cys344Ser) c.1528G>C c.*416G>C (n.*416G>C) c.1091G>C (p.Cys364Ser) c.1253G>C (p.Cys418Ser) | |
| X | g.50086554G>T | CA413185498 | CLCN5 | c.1241G>T (p.Cys414Phe) c.491G>T (p.Cys164Phe) c.1031G>T (p.Cys344Phe) c.1528G>T c.*416G>T (n.*416G>T) c.1091G>T (p.Cys364Phe) c.1253G>T (p.Cys418Phe) | |
| X | g.50086555T>A | CA413185500 | CLCN5 | c.1242T>A (p.Cys414Ter) c.492T>A (p.Cys164Ter) c.1032T>A (p.Cys344Ter) c.1529T>A c.*417T>A (n.*417T>A) c.1092T>A (p.Cys364Ter) c.1254T>A (p.Cys418Ter) | |
| X | g.50086555T>C | CA516678503 | CLCN5 | c.1242T>C (p.Cys414=) c.492T>C (p.Cys164=) c.1032T>C (p.Cys344=) c.1529T>C c.*417T>C (n.*417T>C) c.1092T>C (p.Cys364=) c.1254T>C (p.Cys418=) | dbSNP |
| X | g.50086555T>G | CA413185499 | CLCN5 | c.1242T>G (p.Cys414Trp) c.492T>G (p.Cys164Trp) c.1032T>G (p.Cys344Trp) c.1529T>G c.*417T>G (n.*417T>G) c.1092T>G (p.Cys364Trp) c.1254T>G (p.Cys418Trp) | |
| X | g.50086555T= | CA2428768902 | CLCN5 | c.1242T= (p.Cys414=) c.492T= (p.Cys164=) c.1032T= (p.Cys344=) c.1529T= c.*417T= (n.*417T=) c.1092T= (p.Cys364=) c.1254T= (p.Cys418=) | |
| X | g.50086556C>A | CA516678505 | CLCN5 | c.1243C>A (p.Arg415=) c.493C>A (p.Arg165=) c.1033C>A (p.Arg345=) c.1530C>A c.*418C>A (n.*418C>A) c.1093C>A (p.Arg365=) c.1255C>A (p.Arg419=) | |
| X | g.50086556C= | CA2428768903 | CLCN5 | c.1243C= (p.Arg415=) c.493C= (p.Arg165=) c.1033C= (p.Arg345=) c.1530C= c.*418C= (n.*418C=) c.1093C= (p.Arg365=) c.1255C= (p.Arg419=) | |
| X | g.50086556C>G | CA413185501 | CLCN5 | c.1243C>G (p.Arg415Gly) c.493C>G (p.Arg165Gly) c.1033C>G (p.Arg345Gly) c.1530C>G c.*418C>G (n.*418C>G) c.1093C>G (p.Arg365Gly) c.1255C>G (p.Arg419Gly) | |
| X | g.50086556C>T | CA10413851 | CLCN5 | c.1243C>T (p.Arg415Trp) c.493C>T (p.Arg165Trp) c.1033C>T (p.Arg345Trp) c.1530C>T c.*418C>T (n.*418C>T) c.1093C>T (p.Arg365Trp) c.1255C>T (p.Arg419Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086557G>A | CA10413852 | CLCN5 | c.1244G>A (p.Arg415Gln) c.494G>A (p.Arg165Gln) c.1034G>A (p.Arg345Gln) c.1531G>A c.*419G>A (n.*419G>A) c.1094G>A (p.Arg365Gln) c.1256G>A (p.Arg419Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086557G>C | CA413185502 | CLCN5 | c.1244G>C (p.Arg415Pro) c.494G>C (p.Arg165Pro) c.1034G>C (p.Arg345Pro) c.1531G>C c.*419G>C (n.*419G>C) c.1094G>C (p.Arg365Pro) c.1256G>C (p.Arg419Pro) | |
| X | g.50086557G= | CA2428768904 | CLCN5 | c.1244G= (p.Arg415=) c.494G= (p.Arg165=) c.1034G= (p.Arg345=) c.1531G= c.*419G= (n.*419G=) c.1094G= (p.Arg365=) c.1256G= (p.Arg419=) | |
| X | g.50086557G>T | CA10413853 | CLCN5 | c.1244G>T (p.Arg415Leu) c.494G>T (p.Arg165Leu) c.1034G>T (p.Arg345Leu) c.1531G>T c.*419G>T (n.*419G>T) c.1094G>T (p.Arg365Leu) c.1256G>T (p.Arg419Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086558G>A | CA516678510 | CLCN5 | c.1245G>A (p.Arg415=) c.495G>A (p.Arg165=) c.1035G>A (p.Arg345=) c.1532G>A c.*420G>A (n.*420G>A) c.1095G>A (p.Arg365=) c.1257G>A (p.Arg419=) | |
| X | g.50086558G>C | CA516678512 | CLCN5 | c.1245G>C (p.Arg415=) c.495G>C (p.Arg165=) c.1035G>C (p.Arg345=) c.1532G>C c.*420G>C (n.*420G>C) c.1095G>C (p.Arg365=) c.1257G>C (p.Arg419=) | |
| X | g.50086558G>T | CA516678511 | CLCN5 | c.1245G>T (p.Arg415=) c.495G>T (p.Arg165=) c.1035G>T (p.Arg345=) c.1532G>T c.*420G>T (n.*420G>T) c.1095G>T (p.Arg365=) c.1257G>T (p.Arg419=) | gnomAD v4 |
| X | g.50086559A>C | CA413185503 | CLCN5 | c.1246A>C (p.Lys416Gln) c.496A>C (p.Lys166Gln) c.1036A>C (p.Lys346Gln) c.1533A>C c.*421A>C (n.*421A>C) c.1096A>C (p.Lys366Gln) c.1258A>C (p.Lys420Gln) | |
| X | g.50086559A>G | CA413185504 | CLCN5 | c.1246A>G (p.Lys416Glu) c.496A>G (p.Lys166Glu) c.1036A>G (p.Lys346Glu) c.1533A>G c.*421A>G (n.*421A>G) c.1096A>G (p.Lys366Glu) c.1258A>G (p.Lys420Glu) | |
| X | g.50086559A>T | CA413185505 | CLCN5 | c.1246A>T (p.Lys416Ter) c.496A>T (p.Lys166Ter) c.1036A>T (p.Lys346Ter) c.1533A>T c.*421A>T (n.*421A>T) c.1096A>T (p.Lys366Ter) c.1258A>T (p.Lys420Ter) | |
| X | g.50086560A>C | CA413185506 | CLCN5 | c.1247A>C (p.Lys416Thr) c.497A>C (p.Lys166Thr) c.1037A>C (p.Lys346Thr) c.1534A>C c.*422A>C (n.*422A>C) c.1097A>C (p.Lys366Thr) c.1259A>C (p.Lys420Thr) | |
| X | g.50086560A>G | CA413185508 | CLCN5 | c.1247A>G (p.Lys416Arg) c.497A>G (p.Lys166Arg) c.1037A>G (p.Lys346Arg) c.1534A>G c.*422A>G (n.*422A>G) c.1097A>G (p.Lys366Arg) c.1259A>G (p.Lys420Arg) | |
| X | g.50086560A>T | CA413185507 | CLCN5 | c.1247A>T (p.Lys416Met) c.497A>T (p.Lys166Met) c.1037A>T (p.Lys346Met) c.1534A>T c.*422A>T (n.*422A>T) c.1097A>T (p.Lys366Met) c.1259A>T (p.Lys420Met) | |
| X | g.50086561G>A | CA516678517 | CLCN5 | c.1248G>A (p.Lys416=) c.498G>A (p.Lys166=) c.1038G>A (p.Lys346=) c.1535G>A c.*423G>A (n.*423G>A) c.1098G>A (p.Lys366=) c.1260G>A (p.Lys420=) | |
| X | g.50086561G>C | CA413185509 | CLCN5 | c.1248G>C (p.Lys416Asn) c.498G>C (p.Lys166Asn) c.1038G>C (p.Lys346Asn) c.1535G>C c.*423G>C (n.*423G>C) c.1098G>C (p.Lys366Asn) c.1260G>C (p.Lys420Asn) | |
| X | g.50086561G>T | CA413185510 | CLCN5 | c.1248G>T (p.Lys416Asn) c.498G>T (p.Lys166Asn) c.1038G>T (p.Lys346Asn) c.1535G>T c.*423G>T (n.*423G>T) c.1098G>T (p.Lys366Asn) c.1260G>T (p.Lys420Asn) | |
| X | g.50086562C>A | CA516678521 | CLCN5 | c.1249C>A (p.Arg417=) c.499C>A (p.Arg167=) c.1039C>A (p.Arg347=) c.1536C>A c.*424C>A (n.*424C>A) c.1099C>A (p.Arg367=) c.1261C>A (p.Arg421=) | |
| X | g.50086562C= | CA2428768905 | CLCN5 | c.1249C= (p.Arg417=) c.499C= (p.Arg167=) c.1039C= (p.Arg347=) c.1536C= c.*424C= (n.*424C=) c.1099C= (p.Arg367=) c.1261C= (p.Arg421=) | |
| X | g.50086562C>G | CA413185511 | CLCN5 | c.1249C>G (p.Arg417Gly) c.499C>G (p.Arg167Gly) c.1039C>G (p.Arg347Gly) c.1536C>G c.*424C>G (n.*424C>G) c.1099C>G (p.Arg367Gly) c.1261C>G (p.Arg421Gly) | |
| X | g.50086562C>T | CA347316 | CLCN5 | c.1249C>T (p.Arg417Ter) c.499C>T (p.Arg167Ter) c.1039C>T (p.Arg347Ter) c.1536C>T c.*424C>T (n.*424C>T) c.1099C>T (p.Arg367Ter) c.1261C>T (p.Arg421Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.50086563G>A | CA413185512 | CLCN5 | c.1250G>A (p.Arg417Gln) c.500G>A (p.Arg167Gln) c.1040G>A (p.Arg347Gln) c.1537G>A c.*425G>A (n.*425G>A) c.1100G>A (p.Arg367Gln) c.1262G>A (p.Arg421Gln) | gnomAD v4 |
| X | g.50086563G>C | CA413185514 | CLCN5 | c.1250G>C (p.Arg417Pro) c.500G>C (p.Arg167Pro) c.1040G>C (p.Arg347Pro) c.1537G>C c.*425G>C (n.*425G>C) c.1100G>C (p.Arg367Pro) c.1262G>C (p.Arg421Pro) | |
| X | g.50086563G>T | CA413185513 | CLCN5 | c.1250G>T (p.Arg417Leu) c.500G>T (p.Arg167Leu) c.1040G>T (p.Arg347Leu) c.1537G>T c.*425G>T (n.*425G>T) c.1100G>T (p.Arg367Leu) c.1262G>T (p.Arg421Leu) | |
| X | g.50086564A= | CA2428768906 | CLCN5 | c.1251A= (p.Arg417=) c.501A= (p.Arg167=) c.1041A= (p.Arg347=) c.1538A= c.*426A= (n.*426A=) c.1101A= (p.Arg367=) c.1263A= (p.Arg421=) | |
| X | g.50086564A>C | CA516678525 | CLCN5 | c.1251A>C (p.Arg417=) c.501A>C (p.Arg167=) c.1041A>C (p.Arg347=) c.1538A>C c.*426A>C (n.*426A>C) c.1101A>C (p.Arg367=) c.1263A>C (p.Arg421=) | |
| X | g.50086564A>G | CA10413854 | CLCN5 | c.1251A>G (p.Arg417=) c.501A>G (p.Arg167=) c.1041A>G (p.Arg347=) c.1538A>G c.*426A>G (n.*426A>G) c.1101A>G (p.Arg367=) c.1263A>G (p.Arg421=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086564A>T | CA516678527 | CLCN5 | c.1251A>T (p.Arg417=) c.501A>T (p.Arg167=) c.1041A>T (p.Arg347=) c.1538A>T c.*426A>T (n.*426A>T) c.1101A>T (p.Arg367=) c.1263A>T (p.Arg421=) | |
| X | g.50086565A>C | CA413185515 | CLCN5 | c.1252A>C (p.Lys418Gln) c.502A>C (p.Lys168Gln) c.1042A>C (p.Lys348Gln) c.1539A>C c.*427A>C (n.*427A>C) c.1102A>C (p.Lys368Gln) c.1264A>C (p.Lys422Gln) | |
| X | g.50086565A>G | CA413185516 | CLCN5 | c.1252A>G (p.Lys418Glu) c.502A>G (p.Lys168Glu) c.1042A>G (p.Lys348Glu) c.1539A>G c.*427A>G (n.*427A>G) c.1102A>G (p.Lys368Glu) c.1264A>G (p.Lys422Glu) | |
| X | g.50086565A>T | CA413185517 | CLCN5 | c.1252A>T (p.Lys418Ter) c.502A>T (p.Lys168Ter) c.1042A>T (p.Lys348Ter) c.1539A>T c.*427A>T (n.*427A>T) c.1102A>T (p.Lys368Ter) c.1264A>T (p.Lys422Ter) | |
| X | g.50086566A>C | CA413185518 | CLCN5 | c.1253A>C (p.Lys418Thr) c.503A>C (p.Lys168Thr) c.1043A>C (p.Lys348Thr) c.1540A>C c.*428A>C (n.*428A>C) c.1103A>C (p.Lys368Thr) c.1265A>C (p.Lys422Thr) | |
| X | g.50086566A>G | CA413185519 | CLCN5 | c.1253A>G (p.Lys418Arg) c.503A>G (p.Lys168Arg) c.1043A>G (p.Lys348Arg) c.1540A>G c.*428A>G (n.*428A>G) c.1103A>G (p.Lys368Arg) c.1265A>G (p.Lys422Arg) | |
| X | g.50086566A>T | CA413185520 | CLCN5 | c.1253A>T (p.Lys418Met) c.503A>T (p.Lys168Met) c.1043A>T (p.Lys348Met) c.1540A>T c.*428A>T (n.*428A>T) c.1103A>T (p.Lys368Met) c.1265A>T (p.Lys422Met) | |
| X | g.50086567G>A | CA516678529 | CLCN5 | c.1254G>A (p.Lys418=) c.504G>A (p.Lys168=) c.1044G>A (p.Lys348=) c.1541G>A c.*429G>A (n.*429G>A) c.1104G>A (p.Lys368=) c.1266G>A (p.Lys422=) | |
| X | g.50086567G>C | CA413185521 | CLCN5 | c.1254G>C (p.Lys418Asn) c.504G>C (p.Lys168Asn) c.1044G>C (p.Lys348Asn) c.1541G>C c.*429G>C (n.*429G>C) c.1104G>C (p.Lys368Asn) c.1266G>C (p.Lys422Asn) | |
| X | g.50086567G>T | CA413185522 | CLCN5 | c.1254G>T (p.Lys418Asn) c.504G>T (p.Lys168Asn) c.1044G>T (p.Lys348Asn) c.1541G>T c.*429G>T (n.*429G>T) c.1104G>T (p.Lys368Asn) c.1266G>T (p.Lys422Asn) | COSMIC |
| X | g.50086568A= | CA2428768907 | CLCN5 | c.1255A= (p.Thr419=) c.505A= (p.Thr169=) c.1045A= (p.Thr349=) c.1542A= c.*430A= (n.*430A=) c.1105A= (p.Thr369=) c.1267A= (p.Thr423=) | |
| X | g.50086568A>C | CA413185523 | CLCN5 | c.1255A>C (p.Thr419Pro) c.505A>C (p.Thr169Pro) c.1045A>C (p.Thr349Pro) c.1542A>C c.*430A>C (n.*430A>C) c.1105A>C (p.Thr369Pro) c.1267A>C (p.Thr423Pro) | |
| X | g.50086568A>G | CA413185524 | CLCN5 | c.1255A>G (p.Thr419Ala) c.505A>G (p.Thr169Ala) c.1045A>G (p.Thr349Ala) c.1542A>G c.*430A>G (n.*430A>G) c.1105A>G (p.Thr369Ala) c.1267A>G (p.Thr423Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086568A>T | CA413185525 | CLCN5 | c.1255A>T (p.Thr419Ser) c.505A>T (p.Thr169Ser) c.1045A>T (p.Thr349Ser) c.1542A>T c.*430A>T (n.*430A>T) c.1105A>T (p.Thr369Ser) c.1267A>T (p.Thr423Ser) | |
| X | g.50086569C>A | CA413185528 | CLCN5 | c.1256C>A (p.Thr419Asn) c.506C>A (p.Thr169Asn) c.1046C>A (p.Thr349Asn) c.1543C>A c.*431C>A (n.*431C>A) c.1106C>A (p.Thr369Asn) c.1268C>A (p.Thr423Asn) | |
| X | g.50086569C>G | CA413185527 | CLCN5 | c.1256C>G (p.Thr419Ser) c.506C>G (p.Thr169Ser) c.1046C>G (p.Thr349Ser) c.1543C>G c.*431C>G (n.*431C>G) c.1106C>G (p.Thr369Ser) c.1268C>G (p.Thr423Ser) | gnomAD v4 |
| X | g.50086569C>T | CA413185526 | CLCN5 | c.1256C>T (p.Thr419Ile) c.506C>T (p.Thr169Ile) c.1046C>T (p.Thr349Ile) c.1543C>T c.*431C>T (n.*431C>T) c.1106C>T (p.Thr369Ile) c.1268C>T (p.Thr423Ile) | |
| X | g.50086570C>A | CA516678534 | CLCN5 | c.1257C>A (p.Thr419=) c.507C>A (p.Thr169=) c.1047C>A (p.Thr349=) c.1544C>A c.*432C>A (n.*432C>A) c.1107C>A (p.Thr369=) c.1269C>A (p.Thr423=) | |
| X | g.50086570C= | CA2428768908 | CLCN5 | c.1257C= (p.Thr419=) c.507C= (p.Thr169=) c.1047C= (p.Thr349=) c.1544C= c.*432C= (n.*432C=) c.1107C= (p.Thr369=) c.1269C= (p.Thr423=) | |
| X | g.50086570C>G | CA516678535 | CLCN5 | c.1257C>G (p.Thr419=) c.507C>G (p.Thr169=) c.1047C>G (p.Thr349=) c.1544C>G c.*432C>G (n.*432C>G) c.1107C>G (p.Thr369=) c.1269C>G (p.Thr423=) | |
| X | g.50086570C>T | CA10413855 | CLCN5 | c.1257C>T (p.Thr419=) c.507C>T (p.Thr169=) c.1047C>T (p.Thr349=) c.1544C>T c.*432C>T (n.*432C>T) c.1107C>T (p.Thr369=) c.1269C>T (p.Thr423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086571A>C | CA413185529 | CLCN5 | c.1258A>C (p.Thr420Pro) c.508A>C (p.Thr170Pro) c.1048A>C (p.Thr350Pro) c.1545A>C c.*433A>C (n.*433A>C) c.1108A>C (p.Thr370Pro) c.1270A>C (p.Thr424Pro) | |
| X | g.50086571A>G | CA413185530 | CLCN5 | c.1258A>G (p.Thr420Ala) c.508A>G (p.Thr170Ala) c.1048A>G (p.Thr350Ala) c.1545A>G c.*433A>G (n.*433A>G) c.1108A>G (p.Thr370Ala) c.1270A>G (p.Thr424Ala) | |
| X | g.50086571A>T | CA413185531 | CLCN5 | c.1258A>T (p.Thr420Ser) c.508A>T (p.Thr170Ser) c.1048A>T (p.Thr350Ser) c.1545A>T c.*433A>T (n.*433A>T) c.1108A>T (p.Thr370Ser) c.1270A>T (p.Thr424Ser) | |
| X | g.50086572C>A | CA413185532 | CLCN5 | c.1259C>A (p.Thr420Asn) c.509C>A (p.Thr170Asn) c.1049C>A (p.Thr350Asn) c.1546C>A c.*434C>A (n.*434C>A) c.1109C>A (p.Thr370Asn) c.1271C>A (p.Thr424Asn) | |
| X | g.50086572C>G | CA413185533 | CLCN5 | c.1259C>G (p.Thr420Ser) c.509C>G (p.Thr170Ser) c.1049C>G (p.Thr350Ser) c.1546C>G c.*434C>G (n.*434C>G) c.1109C>G (p.Thr370Ser) c.1271C>G (p.Thr424Ser) | gnomAD v4 |
| X | g.50086572C>T | CA413185534 | CLCN5 | c.1259C>T (p.Thr420Ile) c.509C>T (p.Thr170Ile) c.1049C>T (p.Thr350Ile) c.1546C>T c.*434C>T (n.*434C>T) c.1109C>T (p.Thr370Ile) c.1271C>T (p.Thr424Ile) | |
| X | g.50086573C>A | CA516678537 | CLCN5 | c.1260C>A (p.Thr420=) c.510C>A (p.Thr170=) c.1050C>A (p.Thr350=) c.1547C>A c.*435C>A (n.*435C>A) c.1110C>A (p.Thr370=) c.1272C>A (p.Thr424=) | |
| X | g.50086573C>G | CA516678538 | CLCN5 | c.1260C>G (p.Thr420=) c.510C>G (p.Thr170=) c.1050C>G (p.Thr350=) c.1547C>G c.*435C>G (n.*435C>G) c.1110C>G (p.Thr370=) c.1272C>G (p.Thr424=) | |
| X | g.50086573C>T | CA516678539 | CLCN5 | c.1260C>T (p.Thr420=) c.510C>T (p.Thr170=) c.1050C>T (p.Thr350=) c.1547C>T c.*435C>T (n.*435C>T) c.1110C>T (p.Thr370=) c.1272C>T (p.Thr424=) | |
| X | g.50086574C>A | CA413185535 | CLCN5 | c.1261C>A (p.Gln421Lys) c.511C>A (p.Gln171Lys) c.1051C>A (p.Gln351Lys) c.1548C>A c.*436C>A (n.*436C>A) c.1111C>A (p.Gln371Lys) c.1273C>A (p.Gln425Lys) | |
| X | g.50086574C>G | CA413185536 | CLCN5 | c.1261C>G (p.Gln421Glu) c.511C>G (p.Gln171Glu) c.1051C>G (p.Gln351Glu) c.1548C>G c.*436C>G (n.*436C>G) c.1111C>G (p.Gln371Glu) c.1273C>G (p.Gln425Glu) | |
| X | g.50086574C>T | CA413185537 | CLCN5 | c.1261C>T (p.Gln421Ter) c.511C>T (p.Gln171Ter) c.1051C>T (p.Gln351Ter) c.1548C>T c.*436C>T (n.*436C>T) c.1111C>T (p.Gln371Ter) c.1273C>T (p.Gln425Ter) | ClinVar |
| X | g.50086575A= | CA2428768909 | CLCN5 | c.1262A= (p.Gln421=) c.512A= (p.Gln171=) c.1052A= (p.Gln351=) c.1549A= c.*437A= (n.*437A=) c.1112A= (p.Gln371=) c.1274A= (p.Gln425=) | |
| X | g.50086575A>C | CA413185538 | CLCN5 | c.1262A>C (p.Gln421Pro) c.512A>C (p.Gln171Pro) c.1052A>C (p.Gln351Pro) c.1549A>C c.*437A>C (n.*437A>C) c.1112A>C (p.Gln371Pro) c.1274A>C (p.Gln425Pro) | |
| X | g.50086575A>G | CA329782443 | CLCN5 | c.1262A>G (p.Gln421Arg) c.512A>G (p.Gln171Arg) c.1052A>G (p.Gln351Arg) c.1549A>G c.*437A>G (n.*437A>G) c.1112A>G (p.Gln371Arg) c.1274A>G (p.Gln425Arg) | dbSNP gnomAD v4 |
| X | g.50086575A>T | CA413185539 | CLCN5 | c.1262A>T (p.Gln421Leu) c.512A>T (p.Gln171Leu) c.1052A>T (p.Gln351Leu) c.1549A>T c.*437A>T (n.*437A>T) c.1112A>T (p.Gln371Leu) c.1274A>T (p.Gln425Leu) | |
| X | g.50086576G>A | CA516678541 | CLCN5 | c.1263G>A (p.Gln421=) c.513G>A (p.Gln171=) c.1053G>A (p.Gln351=) c.1550G>A c.*438G>A (n.*438G>A) c.1113G>A (p.Gln371=) c.1275G>A (p.Gln425=) | dbSNP gnomAD v2 |
| X | g.50086576G>C | CA413185540 | CLCN5 | c.1263G>C (p.Gln421His) c.513G>C (p.Gln171His) c.1053G>C (p.Gln351His) c.1550G>C c.*438G>C (n.*438G>C) c.1113G>C (p.Gln371His) c.1275G>C (p.Gln425His) | |
| X | g.50086576G= | CA2428768910 | CLCN5 | c.1263G= (p.Gln421=) c.513G= (p.Gln171=) c.1053G= (p.Gln351=) c.1550G= c.*438G= (n.*438G=) c.1113G= (p.Gln371=) c.1275G= (p.Gln425=) | |
| X | g.50086576G>T | CA413185541 | CLCN5 | c.1263G>T (p.Gln421His) c.513G>T (p.Gln171His) c.1053G>T (p.Gln351His) c.1550G>T c.*438G>T (n.*438G>T) c.1113G>T (p.Gln371His) c.1275G>T (p.Gln425His) | gnomAD v4 |
| X | g.50086577T>A | CA413185543 | CLCN5 | c.1264T>A (p.Leu422Met) c.514T>A (p.Leu172Met) c.1054T>A (p.Leu352Met) c.1551T>A c.*439T>A (n.*439T>A) c.1114T>A (p.Leu372Met) c.1276T>A (p.Leu426Met) | |
| X | g.50086577T>C | CA516678542 | CLCN5 | c.1264T>C (p.Leu422=) c.514T>C (p.Leu172=) c.1054T>C (p.Leu352=) c.1551T>C c.*439T>C (n.*439T>C) c.1114T>C (p.Leu372=) c.1276T>C (p.Leu426=) | |
| X | g.50086577T>G | CA413185542 | CLCN5 | c.1264T>G (p.Leu422Val) c.514T>G (p.Leu172Val) c.1054T>G (p.Leu352Val) c.1551T>G c.*439T>G (n.*439T>G) c.1114T>G (p.Leu372Val) c.1276T>G (p.Leu426Val) | |
| X | g.50086578T>A | CA413185544 | CLCN5 | c.1265T>A (p.Leu422Ter) c.515T>A (p.Leu172Ter) c.1055T>A (p.Leu352Ter) c.1552T>A c.*440T>A (n.*440T>A) c.1115T>A (p.Leu372Ter) c.1277T>A (p.Leu426Ter) | |
| X | g.50086578T>C | CA413185545 | CLCN5 | c.1265T>C (p.Leu422Ser) c.515T>C (p.Leu172Ser) c.1055T>C (p.Leu352Ser) c.1552T>C c.*440T>C (n.*440T>C) c.1115T>C (p.Leu372Ser) c.1277T>C (p.Leu426Ser) | |
| X | g.50086578T>G | CA413185546 | CLCN5 | c.1265T>G (p.Leu422Trp) c.515T>G (p.Leu172Trp) c.1055T>G (p.Leu352Trp) c.1552T>G c.*440T>G (n.*440T>G) c.1115T>G (p.Leu372Trp) c.1277T>G (p.Leu426Trp) | |
| X | g.50086579G>A | CA516678546 | CLCN5 | c.1266G>A (p.Leu422=) c.516G>A (p.Leu172=) c.1056G>A (p.Leu352=) c.1553G>A c.*441G>A (n.*441G>A) c.1116G>A (p.Leu372=) c.1278G>A (p.Leu426=) | |
| X | g.50086579G>C | CA413185547 | CLCN5 | c.1266G>C (p.Leu422Phe) c.516G>C (p.Leu172Phe) c.1056G>C (p.Leu352Phe) c.1553G>C c.*441G>C (n.*441G>C) c.1116G>C (p.Leu372Phe) c.1278G>C (p.Leu426Phe) | |
| X | g.50086579G>T | CA413185548 | CLCN5 | c.1266G>T (p.Leu422Phe) c.516G>T (p.Leu172Phe) c.1056G>T (p.Leu352Phe) c.1553G>T c.*441G>T (n.*441G>T) c.1116G>T (p.Leu372Phe) c.1278G>T (p.Leu426Phe) | |
| X | g.50086580G>A | CA413185551 | CLCN5 | c.1267G>A (p.Gly423Ser) c.517G>A (p.Gly173Ser) c.1057G>A (p.Gly353Ser) c.1554G>A c.*442G>A (n.*442G>A) c.1117G>A (p.Gly373Ser) c.1279G>A (p.Gly427Ser) | |
| X | g.50086580G>C | CA413185550 | CLCN5 | c.1267G>C (p.Gly423Arg) c.517G>C (p.Gly173Arg) c.1057G>C (p.Gly353Arg) c.1554G>C c.*442G>C (n.*442G>C) c.1117G>C (p.Gly373Arg) c.1279G>C (p.Gly427Arg) | |
| X | g.50086580G>T | CA413185549 | CLCN5 | c.1267G>T (p.Gly423Cys) c.517G>T (p.Gly173Cys) c.1057G>T (p.Gly353Cys) c.1554G>T c.*442G>T (n.*442G>T) c.1117G>T (p.Gly373Cys) c.1279G>T (p.Gly427Cys) | |
| X | g.50086581G>A | CA413185552 | CLCN5 | c.1268G>A (p.Gly423Asp) c.518G>A (p.Gly173Asp) c.1058G>A (p.Gly353Asp) c.1555G>A c.*443G>A (n.*443G>A) c.1118G>A (p.Gly373Asp) c.1280G>A (p.Gly427Asp) | |
| X | g.50086581G>C | CA413185553 | CLCN5 | c.1268G>C (p.Gly423Ala) c.518G>C (p.Gly173Ala) c.1058G>C (p.Gly353Ala) c.1555G>C c.*443G>C (n.*443G>C) c.1118G>C (p.Gly373Ala) c.1280G>C (p.Gly427Ala) | |
| X | g.50086581G>T | CA413185554 | CLCN5 | c.1268G>T (p.Gly423Val) c.518G>T (p.Gly173Val) c.1058G>T (p.Gly353Val) c.1555G>T c.*443G>T (n.*443G>T) c.1118G>T (p.Gly373Val) c.1280G>T (p.Gly427Val) | |
| X | g.50086582C>A | CA516678547 | CLCN5 | c.1269C>A (p.Gly423=) c.519C>A (p.Gly173=) c.1059C>A (p.Gly353=) c.1556C>A c.*444C>A (n.*444C>A) c.1119C>A (p.Gly373=) c.1281C>A (p.Gly427=) | |
| X | g.50086582C>G | CA516678548 | CLCN5 | c.1269C>G (p.Gly423=) c.519C>G (p.Gly173=) c.1059C>G (p.Gly353=) c.1556C>G c.*444C>G (n.*444C>G) c.1119C>G (p.Gly373=) c.1281C>G (p.Gly427=) | |
| X | g.50086582C>T | CA516678549 | CLCN5 | c.1269C>T (p.Gly423=) c.519C>T (p.Gly173=) c.1059C>T (p.Gly353=) c.1556C>T c.*444C>T (n.*444C>T) c.1119C>T (p.Gly373=) c.1281C>T (p.Gly427=) | |
| X | g.50086583A>C | CA413185555 | CLCN5 | c.1270A>C (p.Lys424Gln) c.520A>C (p.Lys174Gln) c.1060A>C (p.Lys354Gln) c.1557A>C c.*445A>C (n.*445A>C) c.1120A>C (p.Lys374Gln) c.1282A>C (p.Lys428Gln) | |
| X | g.50086583A>G | CA413185556 | CLCN5 | c.1270A>G (p.Lys424Glu) c.520A>G (p.Lys174Glu) c.1060A>G (p.Lys354Glu) c.1557A>G c.*445A>G (n.*445A>G) c.1120A>G (p.Lys374Glu) c.1282A>G (p.Lys428Glu) | |
| X | g.50086583A>T | CA413185557 | CLCN5 | c.1270A>T (p.Lys424Ter) c.520A>T (p.Lys174Ter) c.1060A>T (p.Lys354Ter) c.1557A>T c.*445A>T (n.*445A>T) c.1120A>T (p.Lys374Ter) c.1282A>T (p.Lys428Ter) | |
| X | g.50086584A>C | CA413185560 | CLCN5 | c.1271A>C (p.Lys424Thr) c.521A>C (p.Lys174Thr) c.1061A>C (p.Lys354Thr) c.1558A>C c.*446A>C (n.*446A>C) c.1121A>C (p.Lys374Thr) c.1283A>C (p.Lys428Thr) | |
| X | g.50086584A>G | CA413185558 | CLCN5 | c.1271A>G (p.Lys424Arg) c.521A>G (p.Lys174Arg) c.1061A>G (p.Lys354Arg) c.1558A>G c.*446A>G (n.*446A>G) c.1121A>G (p.Lys374Arg) c.1283A>G (p.Lys428Arg) | |
| X | g.50086584A>T | CA413185559 | CLCN5 | c.1271A>T (p.Lys424Met) c.521A>T (p.Lys174Met) c.1061A>T (p.Lys354Met) c.1558A>T c.*446A>T (n.*446A>T) c.1121A>T (p.Lys374Met) c.1283A>T (p.Lys428Met) | |
| X | g.50086585G>A | CA516678553 | CLCN5 | c.1272G>A (p.Lys424=) c.522G>A (p.Lys174=) c.1062G>A (p.Lys354=) c.1559G>A c.*447G>A (n.*447G>A) c.1122G>A (p.Lys374=) c.1284G>A (p.Lys428=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50086585G>C | CA413185561 | CLCN5 | c.1272G>C (p.Lys424Asn) c.522G>C (p.Lys174Asn) c.1062G>C (p.Lys354Asn) c.1559G>C c.*447G>C (n.*447G>C) c.1122G>C (p.Lys374Asn) c.1284G>C (p.Lys428Asn) | |
| X | g.50086585G= | CA2428768911 | CLCN5 | c.1272G= (p.Lys424=) c.522G= (p.Lys174=) c.1062G= (p.Lys354=) c.1559G= c.*447G= (n.*447G=) c.1122G= (p.Lys374=) c.1284G= (p.Lys428=) | |
| X | g.50086585G>T | CA413185562 | CLCN5 | c.1272G>T (p.Lys424Asn) c.522G>T (p.Lys174Asn) c.1062G>T (p.Lys354Asn) c.1559G>T c.*447G>T (n.*447G>T) c.1122G>T (p.Lys374Asn) c.1284G>T (p.Lys428Asn) | |
| X | g.50086586T>A | CA413185563 | CLCN5 | c.1273T>A (p.Tyr425Asn) c.523T>A (p.Tyr175Asn) c.1063T>A (p.Tyr355Asn) c.1560T>A c.*448T>A (n.*448T>A) c.1123T>A (p.Tyr375Asn) c.1285T>A (p.Tyr429Asn) | |
| X | g.50086586T>C | CA413185564 | CLCN5 | c.1273T>C (p.Tyr425His) c.523T>C (p.Tyr175His) c.1063T>C (p.Tyr355His) c.1560T>C c.*448T>C (n.*448T>C) c.1123T>C (p.Tyr375His) c.1285T>C (p.Tyr429His) | |
| X | g.50086586T>G | CA413185565 | CLCN5 | c.1273T>G (p.Tyr425Asp) c.523T>G (p.Tyr175Asp) c.1063T>G (p.Tyr355Asp) c.1560T>G c.*448T>G (n.*448T>G) c.1123T>G (p.Tyr375Asp) c.1285T>G (p.Tyr429Asp) | |
| X | g.50086587A= | CA2428768912 | CLCN5 | c.1274A= (p.Tyr425=) c.524A= (p.Tyr175=) c.1064A= (p.Tyr355=) c.1561A= c.*449A= (n.*449A=) c.1124A= (p.Tyr375=) c.1286A= (p.Tyr429=) | |
| X | g.50086587A>C | CA413185566 | CLCN5 | c.1274A>C (p.Tyr425Ser) c.524A>C (p.Tyr175Ser) c.1064A>C (p.Tyr355Ser) c.1561A>C c.*449A>C (n.*449A>C) c.1124A>C (p.Tyr375Ser) c.1286A>C (p.Tyr429Ser) | |
| X | g.50086587A>G | CA10413856 | CLCN5 | c.1274A>G (p.Tyr425Cys) c.524A>G (p.Tyr175Cys) c.1064A>G (p.Tyr355Cys) c.1561A>G c.*449A>G (n.*449A>G) c.1124A>G (p.Tyr375Cys) c.1286A>G (p.Tyr429Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086587A>T | CA413185567 | CLCN5 | c.1274A>T (p.Tyr425Phe) c.524A>T (p.Tyr175Phe) c.1064A>T (p.Tyr355Phe) c.1561A>T c.*449A>T (n.*449A>T) c.1124A>T (p.Tyr375Phe) c.1286A>T (p.Tyr429Phe) | |
| X | g.50086588T>A | CA413185568 | CLCN5 | c.1275T>A (p.Tyr425Ter) c.525T>A (p.Tyr175Ter) c.1065T>A (p.Tyr355Ter) c.1562T>A c.*450T>A (n.*450T>A) c.1125T>A (p.Tyr375Ter) c.1287T>A (p.Tyr429Ter) | |
| X | g.50086588T>C | CA516678557 | CLCN5 | c.1275T>C (p.Tyr425=) c.525T>C (p.Tyr175=) c.1065T>C (p.Tyr355=) c.1562T>C c.*450T>C (n.*450T>C) c.1125T>C (p.Tyr375=) c.1287T>C (p.Tyr429=) | dbSNP |
| X | g.50086588T>G | CA413185569 | CLCN5 | c.1275T>G (p.Tyr425Ter) c.525T>G (p.Tyr175Ter) c.1065T>G (p.Tyr355Ter) c.1562T>G c.*450T>G (n.*450T>G) c.1125T>G (p.Tyr375Ter) c.1287T>G (p.Tyr429Ter) | |
| X | g.50086588T= | CA2428768913 | CLCN5 | c.1275T= (p.Tyr425=) c.525T= (p.Tyr175=) c.1065T= (p.Tyr355=) c.1562T= c.*450T= (n.*450T=) c.1125T= (p.Tyr375=) c.1287T= (p.Tyr429=) | |
| X | g.50086589C>A | CA413185570 | CLCN5 | c.1276C>A (p.Pro426Thr) c.526C>A (p.Pro176Thr) c.1066C>A (p.Pro356Thr) c.1563C>A c.*451C>A (n.*451C>A) c.1126C>A (p.Pro376Thr) c.1288C>A (p.Pro430Thr) | gnomAD v4 |
| X | g.50086589C>G | CA413185571 | CLCN5 | c.1276C>G (p.Pro426Ala) c.526C>G (p.Pro176Ala) c.1066C>G (p.Pro356Ala) c.1563C>G c.*451C>G (n.*451C>G) c.1126C>G (p.Pro376Ala) c.1288C>G (p.Pro430Ala) | |
| X | g.50086589C>T | CA413185572 | CLCN5 | c.1276C>T (p.Pro426Ser) c.526C>T (p.Pro176Ser) c.1066C>T (p.Pro356Ser) c.1563C>T c.*451C>T (n.*451C>T) c.1126C>T (p.Pro376Ser) c.1288C>T (p.Pro430Ser) | |
| X | g.50086590C>A | CA413185575 | CLCN5 | c.1277C>A (p.Pro426His) c.527C>A (p.Pro176His) c.1067C>A (p.Pro356His) c.1564C>A c.*452C>A (n.*452C>A) c.1127C>A (p.Pro376His) c.1289C>A (p.Pro430His) | |
| X | g.50086590C>G | CA413185574 | CLCN5 | c.1277C>G (p.Pro426Arg) c.527C>G (p.Pro176Arg) c.1067C>G (p.Pro356Arg) c.1564C>G c.*452C>G (n.*452C>G) c.1127C>G (p.Pro376Arg) c.1289C>G (p.Pro430Arg) | |
| X | g.50086590C>T | CA413185573 | CLCN5 | c.1277C>T (p.Pro426Leu) c.527C>T (p.Pro176Leu) c.1067C>T (p.Pro356Leu) c.1564C>T c.*452C>T (n.*452C>T) c.1127C>T (p.Pro376Leu) c.1289C>T (p.Pro430Leu) | gnomAD v4 |
| X | g.50086591T>A | CA516678559 | CLCN5 | c.1278T>A (p.Pro426=) c.528T>A (p.Pro176=) c.1068T>A (p.Pro356=) c.1565T>A c.*453T>A (n.*453T>A) c.1128T>A (p.Pro376=) c.1290T>A (p.Pro430=) | |
| X | g.50086591T>C | CA516678563 | CLCN5 | c.1278T>C (p.Pro426=) c.528T>C (p.Pro176=) c.1068T>C (p.Pro356=) c.1565T>C c.*453T>C (n.*453T>C) c.1128T>C (p.Pro376=) c.1290T>C (p.Pro430=) | |
| X | g.50086591T>G | CA516678561 | CLCN5 | c.1278T>G (p.Pro426=) c.528T>G (p.Pro176=) c.1068T>G (p.Pro356=) c.1565T>G c.*453T>G (n.*453T>G) c.1128T>G (p.Pro376=) c.1290T>G (p.Pro430=) | |
| X | g.50086592G>A | CA413185576 | CLCN5 | c.1279G>A (p.Val427Ile) c.529G>A (p.Val177Ile) c.1069G>A (p.Val357Ile) c.1566G>A c.*454G>A (n.*454G>A) c.1129G>A (p.Val377Ile) c.1291G>A (p.Val431Ile) | |
| X | g.50086592G>C | CA413185577 | CLCN5 | c.1279G>C (p.Val427Leu) c.529G>C (p.Val177Leu) c.1069G>C (p.Val357Leu) c.1566G>C c.*454G>C (n.*454G>C) c.1129G>C (p.Val377Leu) c.1291G>C (p.Val431Leu) | |
| X | g.50086592G>T | CA413185578 | CLCN5 | c.1279G>T (p.Val427Phe) c.529G>T (p.Val177Phe) c.1069G>T (p.Val357Phe) c.1566G>T c.*454G>T (n.*454G>T) c.1129G>T (p.Val377Phe) c.1291G>T (p.Val431Phe) | |
| X | g.50086593T>A | CA413185579 | CLCN5 | c.1280T>A (p.Val427Asp) c.530T>A (p.Val177Asp) c.1070T>A (p.Val357Asp) c.1567T>A c.*455T>A (n.*455T>A) c.1130T>A (p.Val377Asp) c.1292T>A (p.Val431Asp) | |
| X | g.50086593T>C | CA413185580 | CLCN5 | c.1280T>C (p.Val427Ala) c.530T>C (p.Val177Ala) c.1070T>C (p.Val357Ala) c.1567T>C c.*455T>C (n.*455T>C) c.1130T>C (p.Val377Ala) c.1292T>C (p.Val431Ala) | |
| X | g.50086593T>G | CA413185581 | CLCN5 | c.1280T>G (p.Val427Gly) c.530T>G (p.Val177Gly) c.1070T>G (p.Val357Gly) c.1567T>G c.*455T>G (n.*455T>G) c.1130T>G (p.Val377Gly) c.1292T>G (p.Val431Gly) | |
| X | g.50086594T>A | CA516678566 | CLCN5 | c.1281T>A (p.Val427=) c.531T>A (p.Val177=) c.1071T>A (p.Val357=) c.1568T>A c.*456T>A (n.*456T>A) c.1131T>A (p.Val377=) c.1293T>A (p.Val431=) | |
| X | g.50086594T>C | CA516678567 | CLCN5 | c.1281T>C (p.Val427=) c.531T>C (p.Val177=) c.1071T>C (p.Val357=) c.1568T>C c.*456T>C (n.*456T>C) c.1131T>C (p.Val377=) c.1293T>C (p.Val431=) | |
| X | g.50086594T>G | CA516678568 | CLCN5 | c.1281T>G (p.Val427=) c.531T>G (p.Val177=) c.1071T>G (p.Val357=) c.1568T>G c.*456T>G (n.*456T>G) c.1131T>G (p.Val377=) c.1293T>G (p.Val431=) | |
| X | g.50086595A= | CA2428768914 | CLCN5 | c.1282A= (p.Ile428=) c.532A= (p.Ile178=) c.1072A= (p.Ile358=) c.1569A= c.*457A= (n.*457A=) c.1132A= (p.Ile378=) c.1294A= (p.Ile432=) | |
| X | g.50086595A>C | CA10413857 | CLCN5 | c.1282A>C (p.Ile428Leu) c.532A>C (p.Ile178Leu) c.1072A>C (p.Ile358Leu) c.1569A>C c.*457A>C (n.*457A>C) c.1132A>C (p.Ile378Leu) c.1294A>C (p.Ile432Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50086595A>G | CA413185582 | CLCN5 | c.1282A>G (p.Ile428Val) c.532A>G (p.Ile178Val) c.1072A>G (p.Ile358Val) c.1569A>G c.*457A>G (n.*457A>G) c.1132A>G (p.Ile378Val) c.1294A>G (p.Ile432Val) | |
| X | g.50086595A>T | CA413185583 | CLCN5 | c.1282A>T (p.Ile428Leu) c.532A>T (p.Ile178Leu) c.1072A>T (p.Ile358Leu) c.1569A>T c.*457A>T (n.*457A>T) c.1132A>T (p.Ile378Leu) c.1294A>T (p.Ile432Leu) | |
| X | g.50086596T>A | CA413185584 | CLCN5 | c.1283T>A (p.Ile428Lys) c.533T>A (p.Ile178Lys) c.1073T>A (p.Ile358Lys) c.1570T>A c.*458T>A (n.*458T>A) c.1133T>A (p.Ile378Lys) c.1295T>A (p.Ile432Lys) | |
| X | g.50086596T>C | CA413185585 | CLCN5 | c.1283T>C (p.Ile428Thr) c.533T>C (p.Ile178Thr) c.1073T>C (p.Ile358Thr) c.1570T>C c.*458T>C (n.*458T>C) c.1133T>C (p.Ile378Thr) c.1295T>C (p.Ile432Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086596T>G | CA413185586 | CLCN5 | c.1283T>G (p.Ile428Arg) c.533T>G (p.Ile178Arg) c.1073T>G (p.Ile358Arg) c.1570T>G c.*458T>G (n.*458T>G) c.1133T>G (p.Ile378Arg) c.1295T>G (p.Ile432Arg) | |
| X | g.50086596T= | CA2428768915 | CLCN5 | c.1283T= (p.Ile428=) c.533T= (p.Ile178=) c.1073T= (p.Ile358=) c.1570T= c.*458T= (n.*458T=) c.1133T= (p.Ile378=) c.1295T= (p.Ile432=) | |
| X | g.50086597A= | CA2428768916 | CLCN5 | c.1284A= (p.Ile428=) c.534A= (p.Ile178=) c.1074A= (p.Ile358=) c.1571A= c.*459A= (n.*459A=) c.1134A= (p.Ile378=) c.1296A= (p.Ile432=) | |
| X | g.50086597A>C | CA516678573 | CLCN5 | c.1284A>C (p.Ile428=) c.534A>C (p.Ile178=) c.1074A>C (p.Ile358=) c.1571A>C c.*459A>C (n.*459A>C) c.1134A>C (p.Ile378=) c.1296A>C (p.Ile432=) | |
| X | g.50086597A>G | CA413185588 | CLCN5 | c.1284A>G (p.Ile428Met) c.534A>G (p.Ile178Met) c.1074A>G (p.Ile358Met) c.1571A>G c.*459A>G (n.*459A>G) c.1134A>G (p.Ile378Met) c.1296A>G (p.Ile432Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086597A>T | CA516678574 | CLCN5 | c.1284A>T (p.Ile428=) c.534A>T (p.Ile178=) c.1074A>T (p.Ile358=) c.1571A>T c.*459A>T (n.*459A>T) c.1134A>T (p.Ile378=) c.1296A>T (p.Ile432=) | |
| X | g.50086598G>A | CA413185590 | CLCN5 | c.1285G>A (p.Glu429Lys) c.535G>A (p.Glu179Lys) c.1075G>A (p.Glu359Lys) c.1572G>A c.*460G>A (n.*460G>A) c.1135G>A (p.Glu379Lys) c.1297G>A (p.Glu433Lys) | |
| X | g.50086598G>C | CA413185591 | CLCN5 | c.1285G>C (p.Glu429Gln) c.535G>C (p.Glu179Gln) c.1075G>C (p.Glu359Gln) c.1572G>C c.*460G>C (n.*460G>C) c.1135G>C (p.Glu379Gln) c.1297G>C (p.Glu433Gln) | |
| X | g.50086598G>T | CA413185589 | CLCN5 | c.1285G>T (p.Glu429Ter) c.535G>T (p.Glu179Ter) c.1075G>T (p.Glu359Ter) c.1572G>T c.*460G>T (n.*460G>T) c.1135G>T (p.Glu379Ter) c.1297G>T (p.Glu433Ter) | COSMIC COSMIC |
| X | g.50086599A>C | CA413185592 | CLCN5 | c.1286A>C (p.Glu429Ala) c.536A>C (p.Glu179Ala) c.1076A>C (p.Glu359Ala) c.1573A>C c.*461A>C (n.*461A>C) c.1136A>C (p.Glu379Ala) c.1298A>C (p.Glu433Ala) | |
| X | g.50086599A>G | CA413185594 | CLCN5 | c.1286A>G (p.Glu429Gly) c.536A>G (p.Glu179Gly) c.1076A>G (p.Glu359Gly) c.1573A>G c.*461A>G (n.*461A>G) c.1136A>G (p.Glu379Gly) c.1298A>G (p.Glu433Gly) | |
| X | g.50086599A>T | CA413185593 | CLCN5 | c.1286A>T (p.Glu429Val) c.536A>T (p.Glu179Val) c.1076A>T (p.Glu359Val) c.1573A>T c.*461A>T (n.*461A>T) c.1136A>T (p.Glu379Val) c.1298A>T (p.Glu433Val) | |
| X | g.50086600G>A | CA516678576 | CLCN5 | c.1287G>A (p.Glu429=) c.537G>A (p.Glu179=) c.1077G>A (p.Glu359=) c.1574G>A c.*462G>A (n.*462G>A) c.1137G>A (p.Glu379=) c.1299G>A (p.Glu433=) | gnomAD v4 |
| X | g.50086600G>C | CA413185595 | CLCN5 | c.1287G>C (p.Glu429Asp) c.537G>C (p.Glu179Asp) c.1077G>C (p.Glu359Asp) c.1574G>C c.*462G>C (n.*462G>C) c.1137G>C (p.Glu379Asp) c.1299G>C (p.Glu433Asp) | |
| X | g.50086600G>T | CA413185596 | CLCN5 | c.1287G>T (p.Glu429Asp) c.537G>T (p.Glu179Asp) c.1077G>T (p.Glu359Asp) c.1574G>T c.*462G>T (n.*462G>T) c.1137G>T (p.Glu379Asp) c.1299G>T (p.Glu433Asp) | |
| X | g.50086601del | CA2830782845 | CLCN5 | c.1288del (p.Val430TyrfsTer4) c.538del (p.Val180TyrfsTer4) c.1078del (p.Val360TyrfsTer4) c.1575del c.*463del (n.*463del) c.1138del (p.Val380TyrfsTer4) c.1300del (p.Val434TyrfsTer4) | |
| X | g.50086601G>A | CA413185597 | CLCN5 | c.1288G>A (p.Val430Ile) c.538G>A (p.Val180Ile) c.1078G>A (p.Val360Ile) c.1575G>A c.*463G>A (n.*463G>A) c.1138G>A (p.Val380Ile) c.1300G>A (p.Val434Ile) | |
| X | g.50086601G>C | CA413185598 | CLCN5 | c.1288G>C (p.Val430Leu) c.538G>C (p.Val180Leu) c.1078G>C (p.Val360Leu) c.1575G>C c.*463G>C (n.*463G>C) c.1138G>C (p.Val380Leu) c.1300G>C (p.Val434Leu) | |
| X | g.50086601G>T | CA413185599 | CLCN5 | c.1288G>T (p.Val430Leu) c.538G>T (p.Val180Leu) c.1078G>T (p.Val360Leu) c.1575G>T c.*463G>T (n.*463G>T) c.1138G>T (p.Val380Leu) c.1300G>T (p.Val434Leu) | |
| X | g.50086602T>A | CA413185600 | CLCN5 | c.1289T>A (p.Val430Glu) c.539T>A (p.Val180Glu) c.1079T>A (p.Val360Glu) c.1576T>A c.*464T>A (n.*464T>A) c.1139T>A (p.Val380Glu) c.1301T>A (p.Val434Glu) | |
| X | g.50086602T>C | CA413185601 | CLCN5 | c.1289T>C (p.Val430Ala) c.539T>C (p.Val180Ala) c.1079T>C (p.Val360Ala) c.1576T>C c.*464T>C (n.*464T>C) c.1139T>C (p.Val380Ala) c.1301T>C (p.Val434Ala) | |
| X | g.50086602T>G | CA413185602 | CLCN5 | c.1289T>G (p.Val430Gly) c.539T>G (p.Val180Gly) c.1079T>G (p.Val360Gly) c.1576T>G c.*464T>G (n.*464T>G) c.1139T>G (p.Val380Gly) c.1301T>G (p.Val434Gly) | |
| X | g.50086603A>C | CA516678577 | CLCN5 | c.1290A>C (p.Val430=) c.540A>C (p.Val180=) c.1080A>C (p.Val360=) c.1577A>C c.*465A>C (n.*465A>C) c.1140A>C (p.Val380=) c.1302A>C (p.Val434=) | |
| X | g.50086603A>G | CA516678578 | CLCN5 | c.1290A>G (p.Val430=) c.540A>G (p.Val180=) c.1080A>G (p.Val360=) c.1577A>G c.*465A>G (n.*465A>G) c.1140A>G (p.Val380=) c.1302A>G (p.Val434=) | |
| X | g.50086603A>T | CA516678579 | CLCN5 | c.1290A>T (p.Val430=) c.540A>T (p.Val180=) c.1080A>T (p.Val360=) c.1577A>T c.*465A>T (n.*465A>T) c.1140A>T (p.Val380=) c.1302A>T (p.Val434=) | |
| X | g.50086604C>A | CA413185603 | CLCN5 | c.1291C>A (p.Leu431Ile) c.541C>A (p.Leu181Ile) c.1081C>A (p.Leu361Ile) c.1578C>A c.*466C>A (n.*466C>A) c.1141C>A (p.Leu381Ile) c.1303C>A (p.Leu435Ile) | |
| X | g.50086604C= | CA2428768917 | CLCN5 | c.1291C= (p.Leu431=) c.541C= (p.Leu181=) c.1081C= (p.Leu361=) c.1578C= c.*466C= (n.*466C=) c.1141C= (p.Leu381=) c.1303C= (p.Leu435=) | |
| X | g.50086604C>G | CA413185604 | CLCN5 | c.1291C>G (p.Leu431Val) c.541C>G (p.Leu181Val) c.1081C>G (p.Leu361Val) c.1578C>G c.*466C>G (n.*466C>G) c.1141C>G (p.Leu381Val) c.1303C>G (p.Leu435Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086604C>T | CA413185605 | CLCN5 | c.1291C>T (p.Leu431Phe) c.541C>T (p.Leu181Phe) c.1081C>T (p.Leu361Phe) c.1578C>T c.*466C>T (n.*466C>T) c.1141C>T (p.Leu381Phe) c.1303C>T (p.Leu435Phe) | |
| X | g.50086605T>A | CA413185608 | CLCN5 | c.1292T>A (p.Leu431His) c.542T>A (p.Leu181His) c.1082T>A (p.Leu361His) c.1579T>A c.*467T>A (n.*467T>A) c.1142T>A (p.Leu381His) c.1304T>A (p.Leu435His) | |
| X | g.50086605T>C | CA413185606 | CLCN5 | c.1292T>C (p.Leu431Pro) c.542T>C (p.Leu181Pro) c.1082T>C (p.Leu361Pro) c.1579T>C c.*467T>C (n.*467T>C) c.1142T>C (p.Leu381Pro) c.1304T>C (p.Leu435Pro) | |
| X | g.50086605T>G | CA413185607 | CLCN5 | c.1292T>G (p.Leu431Arg) c.542T>G (p.Leu181Arg) c.1082T>G (p.Leu361Arg) c.1579T>G c.*467T>G (n.*467T>G) c.1142T>G (p.Leu381Arg) c.1304T>G (p.Leu435Arg) | |
| X | g.50086606C>A | CA516678581 | CLCN5 | c.1293C>A (p.Leu431=) c.543C>A (p.Leu181=) c.1083C>A (p.Leu361=) c.1580C>A c.*468C>A (n.*468C>A) c.1143C>A (p.Leu381=) c.1305C>A (p.Leu435=) | gnomAD v4 |
| X | g.50086606C= | CA2428768918 | CLCN5 | c.1293C= (p.Leu431=) c.543C= (p.Leu181=) c.1083C= (p.Leu361=) c.1580C= c.*468C= (n.*468C=) c.1143C= (p.Leu381=) c.1305C= (p.Leu435=) | |
| X | g.50086606C>G | CA516678582 | CLCN5 | c.1293C>G (p.Leu431=) c.543C>G (p.Leu181=) c.1083C>G (p.Leu361=) c.1580C>G c.*468C>G (n.*468C>G) c.1143C>G (p.Leu381=) c.1305C>G (p.Leu435=) | |
| X | g.50086606C>T | CA516678583 | CLCN5 | c.1293C>T (p.Leu431=) c.543C>T (p.Leu181=) c.1083C>T (p.Leu361=) c.1580C>T c.*468C>T (n.*468C>T) c.1143C>T (p.Leu381=) c.1305C>T (p.Leu435=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.50086607G>A | CA10413858 | CLCN5 | c.1294G>A (p.Val432Ile) c.544G>A (p.Val182Ile) c.1084G>A (p.Val362Ile) c.1581G>A c.*469G>A (n.*469G>A) c.1144G>A (p.Val382Ile) c.1306G>A (p.Val436Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.50086607G>C | CA413185609 | CLCN5 | c.1294G>C (p.Val432Leu) c.544G>C (p.Val182Leu) c.1084G>C (p.Val362Leu) c.1581G>C c.*469G>C (n.*469G>C) c.1144G>C (p.Val382Leu) c.1306G>C (p.Val436Leu) | |
| X | g.50086607G= | CA2428768919 | CLCN5 | c.1294G= (p.Val432=) c.544G= (p.Val182=) c.1084G= (p.Val362=) c.1581G= c.*469G= (n.*469G=) c.1144G= (p.Val382=) c.1306G= (p.Val436=) | |
| X | g.50086607G>T | CA413185610 | CLCN5 | c.1294G>T (p.Val432Phe) c.544G>T (p.Val182Phe) c.1084G>T (p.Val362Phe) c.1581G>T c.*469G>T (n.*469G>T) c.1144G>T (p.Val382Phe) c.1306G>T (p.Val436Phe) | gnomAD v4 |
| X | g.50086608T>A | CA413185611 | CLCN5 | c.1295T>A (p.Val432Asp) c.545T>A (p.Val182Asp) c.1085T>A (p.Val362Asp) c.1582T>A c.*470T>A (n.*470T>A) c.1145T>A (p.Val382Asp) c.1307T>A (p.Val436Asp) | |
| X | g.50086608T>C | CA413185612 | CLCN5 | c.1295T>C (p.Val432Ala) c.545T>C (p.Val182Ala) c.1085T>C (p.Val362Ala) c.1582T>C c.*470T>C (n.*470T>C) c.1145T>C (p.Val382Ala) c.1307T>C (p.Val436Ala) | |
| X | g.50086608T>G | CA413185613 | CLCN5 | c.1295T>G (p.Val432Gly) c.545T>G (p.Val182Gly) c.1085T>G (p.Val362Gly) c.1582T>G c.*470T>G (n.*470T>G) c.1145T>G (p.Val382Gly) c.1307T>G (p.Val436Gly) | |
| X | g.50086609C>A | CA516678192 | CLCN5 | c.1296C>A (p.Val432=) c.546C>A (p.Val182=) c.1086C>A (p.Val362=) c.1583C>A c.*471C>A (n.*471C>A) c.1146C>A (p.Val382=) c.1308C>A (p.Val436=) | |
| X | g.50086609C= | CA2428768920 | CLCN5 | c.1296C= (p.Val432=) c.546C= (p.Val182=) c.1086C= (p.Val362=) c.1583C= c.*471C= (n.*471C=) c.1146C= (p.Val382=) c.1308C= (p.Val436=) | |
| X | g.50086609C>G | CA516678195 | CLCN5 | c.1296C>G (p.Val432=) c.546C>G (p.Val182=) c.1086C>G (p.Val362=) c.1583C>G c.*471C>G (n.*471C>G) c.1146C>G (p.Val382=) c.1308C>G (p.Val436=) | |
| X | g.50086609C>T | CA10413859 | CLCN5 | c.1296C>T (p.Val432=) c.546C>T (p.Val182=) c.1086C>T (p.Val362=) c.1583C>T c.*471C>T (n.*471C>T) c.1146C>T (p.Val382=) c.1308C>T (p.Val436=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086610_50086623del | CA2695233684 | CLCN5 | c.1297_1310del (p.Val433CysfsTer8) c.547_560del (p.Val183CysfsTer8) c.1087_1100del (p.Val363CysfsTer8) c.1584_1597del c.*472_*485del (n.*472_*485del) c.1147_1160del (p.Val383CysfsTer8) c.1309_1322del (p.Val437CysfsTer8) | |
| X | g.50086610G>A | CA10413860 | CLCN5 | c.1297G>A (p.Val433Met) c.547G>A (p.Val183Met) c.1087G>A (p.Val363Met) c.1584G>A c.*472G>A (n.*472G>A) c.1147G>A (p.Val383Met) c.1309G>A (p.Val437Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086610G>C | CA413185614 | CLCN5 | c.1297G>C (p.Val433Leu) c.547G>C (p.Val183Leu) c.1087G>C (p.Val363Leu) c.1584G>C c.*472G>C (n.*472G>C) c.1147G>C (p.Val383Leu) c.1309G>C (p.Val437Leu) | |
| X | g.50086610G= | CA2428768921 | CLCN5 | c.1297G= (p.Val433=) c.547G= (p.Val183=) c.1087G= (p.Val363=) c.1584G= c.*472G= (n.*472G=) c.1147G= (p.Val383=) c.1309G= (p.Val437=) | |
| X | g.50086610G>T | CA413185615 | CLCN5 | c.1297G>T (p.Val433Leu) c.547G>T (p.Val183Leu) c.1087G>T (p.Val363Leu) c.1584G>T c.*472G>T (n.*472G>T) c.1147G>T (p.Val383Leu) c.1309G>T (p.Val437Leu) | |
| X | g.50086611T>A | CA413185617 | CLCN5 | c.1298T>A (p.Val433Glu) c.548T>A (p.Val183Glu) c.1088T>A (p.Val363Glu) c.1585T>A c.*473T>A (n.*473T>A) c.1148T>A (p.Val383Glu) c.1310T>A (p.Val437Glu) | |
| X | g.50086611T>C | CA413185618 | CLCN5 | c.1298T>C (p.Val433Ala) c.548T>C (p.Val183Ala) c.1088T>C (p.Val363Ala) c.1585T>C c.*473T>C (n.*473T>C) c.1148T>C (p.Val383Ala) c.1310T>C (p.Val437Ala) | |
| X | g.50086611T>G | CA413185616 | CLCN5 | c.1298T>G (p.Val433Gly) c.548T>G (p.Val183Gly) c.1088T>G (p.Val363Gly) c.1585T>G c.*473T>G (n.*473T>G) c.1148T>G (p.Val383Gly) c.1310T>G (p.Val437Gly) | |
| X | g.50086612G>A | CA516678216 | CLCN5 | c.1299G>A (p.Val433=) c.549G>A (p.Val183=) c.1089G>A (p.Val363=) c.1586G>A c.*474G>A (n.*474G>A) c.1149G>A (p.Val383=) c.1311G>A (p.Val437=) | dbSNP |
| X | g.50086612G>C | CA516678212 | CLCN5 | c.1299G>C (p.Val433=) c.549G>C (p.Val183=) c.1089G>C (p.Val363=) c.1586G>C c.*474G>C (n.*474G>C) c.1149G>C (p.Val383=) c.1311G>C (p.Val437=) | |
| X | g.50086612G= | CA2428768922 | CLCN5 | c.1299G= (p.Val433=) c.549G= (p.Val183=) c.1089G= (p.Val363=) c.1586G= c.*474G= (n.*474G=) c.1149G= (p.Val383=) c.1311G= (p.Val437=) | |
| X | g.50086612G>T | CA516678209 | CLCN5 | c.1299G>T (p.Val433=) c.549G>T (p.Val183=) c.1089G>T (p.Val363=) c.1586G>T c.*474G>T (n.*474G>T) c.1149G>T (p.Val383=) c.1311G>T (p.Val437=) | |
| X | g.50086613A>C | CA413185619 | CLCN5 | c.1300A>C (p.Thr434Pro) c.550A>C (p.Thr184Pro) c.1090A>C (p.Thr364Pro) c.1587A>C c.*475A>C (n.*475A>C) c.1150A>C (p.Thr384Pro) c.1312A>C (p.Thr438Pro) | |
| X | g.50086613A>G | CA413185620 | CLCN5 | c.1300A>G (p.Thr434Ala) c.550A>G (p.Thr184Ala) c.1090A>G (p.Thr364Ala) c.1587A>G c.*475A>G (n.*475A>G) c.1150A>G (p.Thr384Ala) c.1312A>G (p.Thr438Ala) | |
| X | g.50086613A>T | CA413185621 | CLCN5 | c.1300A>T (p.Thr434Ser) c.550A>T (p.Thr184Ser) c.1090A>T (p.Thr364Ser) c.1587A>T c.*475A>T (n.*475A>T) c.1150A>T (p.Thr384Ser) c.1312A>T (p.Thr438Ser) | |
| X | g.50086614C>A | CA413185622 | CLCN5 | c.1301C>A (p.Thr434Lys) c.551C>A (p.Thr184Lys) c.1091C>A (p.Thr364Lys) c.1588C>A c.*476C>A (n.*476C>A) c.1151C>A (p.Thr384Lys) c.1313C>A (p.Thr438Lys) | |
| X | g.50086614C>G | CA413185623 | CLCN5 | c.1301C>G (p.Thr434Arg) c.551C>G (p.Thr184Arg) c.1091C>G (p.Thr364Arg) c.1588C>G c.*476C>G (n.*476C>G) c.1151C>G (p.Thr384Arg) c.1313C>G (p.Thr438Arg) | |
| X | g.50086614C>T | CA413185624 | CLCN5 | c.1301C>T (p.Thr434Ile) c.551C>T (p.Thr184Ile) c.1091C>T (p.Thr364Ile) c.1588C>T c.*476C>T (n.*476C>T) c.1151C>T (p.Thr384Ile) c.1313C>T (p.Thr438Ile) | |
| X | g.50086615A= | CA2428768923 | CLCN5 | c.1302A= (p.Thr434=) c.552A= (p.Thr184=) c.1092A= (p.Thr364=) c.1589A= c.*477A= (n.*477A=) c.1152A= (p.Thr384=) c.1314A= (p.Thr438=) | |
| X | g.50086615A>C | CA516678221 | CLCN5 | c.1302A>C (p.Thr434=) c.552A>C (p.Thr184=) c.1092A>C (p.Thr364=) c.1589A>C c.*477A>C (n.*477A>C) c.1152A>C (p.Thr384=) c.1314A>C (p.Thr438=) | |
| X | g.50086615A>G | CA10413861 | CLCN5 | c.1302A>G (p.Thr434=) c.552A>G (p.Thr184=) c.1092A>G (p.Thr364=) c.1589A>G c.*477A>G (n.*477A>G) c.1152A>G (p.Thr384=) c.1314A>G (p.Thr438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086615A>T | CA516678222 | CLCN5 | c.1302A>T (p.Thr434=) c.552A>T (p.Thr184=) c.1092A>T (p.Thr364=) c.1589A>T c.*477A>T (n.*477A>T) c.1152A>T (p.Thr384=) c.1314A>T (p.Thr438=) | |
| X | g.50086616G>A | CA413185625 | CLCN5 | c.1303G>A (p.Ala435Thr) c.553G>A (p.Ala185Thr) c.1093G>A (p.Ala365Thr) c.1590G>A c.*478G>A (n.*478G>A) c.1153G>A (p.Ala385Thr) c.1315G>A (p.Ala439Thr) | dbSNP |
| X | g.50086616G>C | CA413185626 | CLCN5 | c.1303G>C (p.Ala435Pro) c.553G>C (p.Ala185Pro) c.1093G>C (p.Ala365Pro) c.1590G>C c.*478G>C (n.*478G>C) c.1153G>C (p.Ala385Pro) c.1315G>C (p.Ala439Pro) | |
| X | g.50086616G= | CA2428768924 | CLCN5 | c.1303G= (p.Ala435=) c.553G= (p.Ala185=) c.1093G= (p.Ala365=) c.1590G= c.*478G= (n.*478G=) c.1153G= (p.Ala385=) c.1315G= (p.Ala439=) | |
| X | g.50086616G>T | CA413185627 | CLCN5 | c.1303G>T (p.Ala435Ser) c.553G>T (p.Ala185Ser) c.1093G>T (p.Ala365Ser) c.1590G>T c.*478G>T (n.*478G>T) c.1153G>T (p.Ala385Ser) c.1315G>T (p.Ala439Ser) | gnomAD v4 |
| X | g.50086617C>A | CA413185628 | CLCN5 | c.1304C>A (p.Ala435Asp) c.554C>A (p.Ala185Asp) c.1094C>A (p.Ala365Asp) c.1591C>A c.*479C>A (n.*479C>A) c.1154C>A (p.Ala385Asp) c.1316C>A (p.Ala439Asp) | |
| X | g.50086617C= | CA2428768925 | CLCN5 | c.1304C= (p.Ala435=) c.554C= (p.Ala185=) c.1094C= (p.Ala365=) c.1591C= c.*479C= (n.*479C=) c.1154C= (p.Ala385=) c.1316C= (p.Ala439=) | |
| X | g.50086617C>G | CA413185629 | CLCN5 | c.1304C>G (p.Ala435Gly) c.554C>G (p.Ala185Gly) c.1094C>G (p.Ala365Gly) c.1591C>G c.*479C>G (n.*479C>G) c.1154C>G (p.Ala385Gly) c.1316C>G (p.Ala439Gly) | |
| X | g.50086617C>T | CA413185630 | CLCN5 | c.1304C>T (p.Ala435Val) c.554C>T (p.Ala185Val) c.1094C>T (p.Ala365Val) c.1591C>T c.*479C>T (n.*479C>T) c.1154C>T (p.Ala385Val) c.1316C>T (p.Ala439Val) | dbSNP |
| X | g.50086618dup | CA2693737106 | CLCN5 | c.1305dup (p.Ile436HisfsTer10) c.555dup (p.Ile186HisfsTer10) c.1095dup (p.Ile366HisfsTer10) c.1592dup c.*480dup (n.*480dup) c.1155dup (p.Ile386HisfsTer10) c.1317dup (p.Ile440HisfsTer10) | gnomAD v4 |
| X | g.50086618C>A | CA516678227 | CLCN5 | c.1305C>A (p.Ala435=) c.555C>A (p.Ala185=) c.1095C>A (p.Ala365=) c.1592C>A c.*480C>A (n.*480C>A) c.1155C>A (p.Ala385=) c.1317C>A (p.Ala439=) | |
| X | g.50086618C>G | CA516678226 | CLCN5 | c.1305C>G (p.Ala435=) c.555C>G (p.Ala185=) c.1095C>G (p.Ala365=) c.1592C>G c.*480C>G (n.*480C>G) c.1155C>G (p.Ala385=) c.1317C>G (p.Ala439=) | |
| X | g.50086618C>T | CA516678225 | CLCN5 | c.1305C>T (p.Ala435=) c.555C>T (p.Ala185=) c.1095C>T (p.Ala365=) c.1592C>T c.*480C>T (n.*480C>T) c.1155C>T (p.Ala385=) c.1317C>T (p.Ala439=) | |
| X | g.50086619A>C | CA413185633 | CLCN5 | c.1306A>C (p.Ile436Leu) c.556A>C (p.Ile186Leu) c.1096A>C (p.Ile366Leu) c.1593A>C c.*481A>C (n.*481A>C) c.1156A>C (p.Ile386Leu) c.1318A>C (p.Ile440Leu) | |
| X | g.50086619A>G | CA413185632 | CLCN5 | c.1306A>G (p.Ile436Val) c.556A>G (p.Ile186Val) c.1096A>G (p.Ile366Val) c.1593A>G c.*481A>G (n.*481A>G) c.1156A>G (p.Ile386Val) c.1318A>G (p.Ile440Val) | |
| X | g.50086619A>T | CA413185631 | CLCN5 | c.1306A>T (p.Ile436Phe) c.556A>T (p.Ile186Phe) c.1096A>T (p.Ile366Phe) c.1593A>T c.*481A>T (n.*481A>T) c.1156A>T (p.Ile386Phe) c.1318A>T (p.Ile440Phe) | |
| X | g.50086620T>A | CA413185634 | CLCN5 | c.1307T>A (p.Ile436Asn) c.557T>A (p.Ile186Asn) c.1097T>A (p.Ile366Asn) c.1594T>A c.*482T>A (n.*482T>A) c.1157T>A (p.Ile386Asn) c.1319T>A (p.Ile440Asn) | |
| X | g.50086620T>C | CA413185635 | CLCN5 | c.1307T>C (p.Ile436Thr) c.557T>C (p.Ile186Thr) c.1097T>C (p.Ile366Thr) c.1594T>C c.*482T>C (n.*482T>C) c.1157T>C (p.Ile386Thr) c.1319T>C (p.Ile440Thr) | |
| X | g.50086620T>G | CA413185636 | CLCN5 | c.1307T>G (p.Ile436Ser) c.557T>G (p.Ile186Ser) c.1097T>G (p.Ile366Ser) c.1594T>G c.*482T>G (n.*482T>G) c.1157T>G (p.Ile386Ser) c.1319T>G (p.Ile440Ser) | |
| X | g.50086621C>A | CA516678234 | CLCN5 | c.1308C>A (p.Ile436=) c.558C>A (p.Ile186=) c.1098C>A (p.Ile366=) c.1595C>A c.*483C>A (n.*483C>A) c.1158C>A (p.Ile386=) c.1320C>A (p.Ile440=) | |
| X | g.50086621C>G | CA413185637 | CLCN5 | c.1308C>G (p.Ile436Met) c.558C>G (p.Ile186Met) c.1098C>G (p.Ile366Met) c.1595C>G c.*483C>G (n.*483C>G) c.1158C>G (p.Ile386Met) c.1320C>G (p.Ile440Met) | |
| X | g.50086621C>T | CA516678237 | CLCN5 | c.1308C>T (p.Ile436=) c.558C>T (p.Ile186=) c.1098C>T (p.Ile366=) c.1595C>T c.*483C>T (n.*483C>T) c.1158C>T (p.Ile386=) c.1320C>T (p.Ile440=) | |
| X | g.50086622A>C | CA413185638 | CLCN5 | c.1309A>C (p.Thr437Pro) c.559A>C (p.Thr187Pro) c.1099A>C (p.Thr367Pro) c.1596A>C c.*484A>C (n.*484A>C) c.1159A>C (p.Thr387Pro) c.1321A>C (p.Thr441Pro) | |
| X | g.50086622A>G | CA413185639 | CLCN5 | c.1309A>G (p.Thr437Ala) c.559A>G (p.Thr187Ala) c.1099A>G (p.Thr367Ala) c.1596A>G c.*484A>G (n.*484A>G) c.1159A>G (p.Thr387Ala) c.1321A>G (p.Thr441Ala) | |
| X | g.50086622A>T | CA413185640 | CLCN5 | c.1309A>T (p.Thr437Ser) c.559A>T (p.Thr187Ser) c.1099A>T (p.Thr367Ser) c.1596A>T c.*484A>T (n.*484A>T) c.1159A>T (p.Thr387Ser) c.1321A>T (p.Thr441Ser) | |
| X | g.50086623C>A | CA413185642 | CLCN5 | c.1310C>A (p.Thr437Asn) c.560C>A (p.Thr187Asn) c.1100C>A (p.Thr367Asn) c.1597C>A c.*485C>A (n.*485C>A) c.1160C>A (p.Thr387Asn) c.1322C>A (p.Thr441Asn) | |
| X | g.50086623C>G | CA413185643 | CLCN5 | c.1310C>G (p.Thr437Ser) c.560C>G (p.Thr187Ser) c.1100C>G (p.Thr367Ser) c.1597C>G c.*485C>G (n.*485C>G) c.1160C>G (p.Thr387Ser) c.1322C>G (p.Thr441Ser) | |
| X | g.50086623C>T | CA413185644 | CLCN5 | c.1310C>T (p.Thr437Ile) c.560C>T (p.Thr187Ile) c.1100C>T (p.Thr367Ile) c.1597C>T c.*485C>T (n.*485C>T) c.1160C>T (p.Thr387Ile) c.1322C>T (p.Thr441Ile) | |
| X | g.50086624T>A | CA516678240 | CLCN5 | c.1311T>A (p.Thr437=) c.561T>A (p.Thr187=) c.1101T>A (p.Thr367=) c.1598T>A c.*486T>A (n.*486T>A) c.1161T>A (p.Thr387=) c.1323T>A (p.Thr441=) | |
| X | g.50086624T>C | CA516678239 | CLCN5 | c.1311T>C (p.Thr437=) c.561T>C (p.Thr187=) c.1101T>C (p.Thr367=) c.1598T>C c.*486T>C (n.*486T>C) c.1161T>C (p.Thr387=) c.1323T>C (p.Thr441=) | |
| X | g.50086624T>G | CA516678238 | CLCN5 | c.1311T>G (p.Thr437=) c.561T>G (p.Thr187=) c.1101T>G (p.Thr367=) c.1598T>G c.*486T>G (n.*486T>G) c.1161T>G (p.Thr387=) c.1323T>G (p.Thr441=) | |
| X | g.50086625G>A | CA413185645 | CLCN5 | c.1312G>A (p.Ala438Thr) c.562G>A (p.Ala188Thr) c.1102G>A (p.Ala368Thr) c.1599G>A c.*487G>A (n.*487G>A) c.1162G>A (p.Ala388Thr) c.1324G>A (p.Ala442Thr) | |
| X | g.50086625G>C | CA413185646 | CLCN5 | c.1312G>C (p.Ala438Pro) c.562G>C (p.Ala188Pro) c.1102G>C (p.Ala368Pro) c.1599G>C c.*487G>C (n.*487G>C) c.1162G>C (p.Ala388Pro) c.1324G>C (p.Ala442Pro) | |
| X | g.50086625G>T | CA413185647 | CLCN5 | c.1312G>T (p.Ala438Ser) c.562G>T (p.Ala188Ser) c.1102G>T (p.Ala368Ser) c.1599G>T c.*487G>T (n.*487G>T) c.1162G>T (p.Ala388Ser) c.1324G>T (p.Ala442Ser) | |
| X | g.50086626C>A | CA413185649 | CLCN5 | c.1313C>A (p.Ala438Asp) c.563C>A (p.Ala188Asp) c.1103C>A (p.Ala368Asp) c.1600C>A c.*488C>A (n.*488C>A) c.1163C>A (p.Ala388Asp) c.1325C>A (p.Ala442Asp) | |
| X | g.50086626C>G | CA413185650 | CLCN5 | c.1313C>G (p.Ala438Gly) c.563C>G (p.Ala188Gly) c.1103C>G (p.Ala368Gly) c.1600C>G c.*488C>G (n.*488C>G) c.1163C>G (p.Ala388Gly) c.1325C>G (p.Ala442Gly) | |
| X | g.50086626C>T | CA413185648 | CLCN5 | c.1313C>T (p.Ala438Val) c.563C>T (p.Ala188Val) c.1103C>T (p.Ala368Val) c.1600C>T c.*488C>T (n.*488C>T) c.1163C>T (p.Ala388Val) c.1325C>T (p.Ala442Val) | |
| X | g.50086627C>A | CA516678250 | CLCN5 | c.1314C>A (p.Ala438=) c.564C>A (p.Ala188=) c.1104C>A (p.Ala368=) c.1601C>A c.*489C>A (n.*489C>A) c.1164C>A (p.Ala388=) c.1326C>A (p.Ala442=) | |
| X | g.50086627C>G | CA516678249 | CLCN5 | c.1314C>G (p.Ala438=) c.564C>G (p.Ala188=) c.1104C>G (p.Ala368=) c.1601C>G c.*489C>G (n.*489C>G) c.1164C>G (p.Ala388=) c.1326C>G (p.Ala442=) | |
| X | g.50086627C>T | CA516678248 | CLCN5 | c.1314C>T (p.Ala438=) c.564C>T (p.Ala188=) c.1104C>T (p.Ala368=) c.1601C>T c.*489C>T (n.*489C>T) c.1164C>T (p.Ala388=) c.1326C>T (p.Ala442=) | |
| X | g.50086628A>C | CA413185651 | CLCN5 | c.1315A>C (p.Ile439Leu) c.565A>C (p.Ile189Leu) c.1105A>C (p.Ile369Leu) c.1602A>C c.*490A>C (n.*490A>C) c.1165A>C (p.Ile389Leu) c.1327A>C (p.Ile443Leu) | |
| X | g.50086628A>G | CA413185653 | CLCN5 | c.1315A>G (p.Ile439Val) c.565A>G (p.Ile189Val) c.1105A>G (p.Ile369Val) c.1602A>G c.*490A>G (n.*490A>G) c.1165A>G (p.Ile389Val) c.1327A>G (p.Ile443Val) | |
| X | g.50086628A>T | CA413185652 | CLCN5 | c.1315A>T (p.Ile439Phe) c.565A>T (p.Ile189Phe) c.1105A>T (p.Ile369Phe) c.1602A>T c.*490A>T (n.*490A>T) c.1165A>T (p.Ile389Phe) c.1327A>T (p.Ile443Phe) | |
| X | g.50086629T>A | CA413185654 | CLCN5 | c.1316T>A (p.Ile439Asn) c.566T>A (p.Ile189Asn) c.1106T>A (p.Ile369Asn) c.1603T>A c.*491T>A (n.*491T>A) c.1166T>A (p.Ile389Asn) c.1328T>A (p.Ile443Asn) | |
| X | g.50086629T>C | CA413185655 | CLCN5 | c.1316T>C (p.Ile439Thr) c.566T>C (p.Ile189Thr) c.1106T>C (p.Ile369Thr) c.1603T>C c.*491T>C (n.*491T>C) c.1166T>C (p.Ile389Thr) c.1328T>C (p.Ile443Thr) | gnomAD v4 |
| X | g.50086629T>G | CA413185656 | CLCN5 | c.1316T>G (p.Ile439Ser) c.566T>G (p.Ile189Ser) c.1106T>G (p.Ile369Ser) c.1603T>G c.*491T>G (n.*491T>G) c.1166T>G (p.Ile389Ser) c.1328T>G (p.Ile443Ser) | |
| X | g.50086630C>A | CA516678258 | CLCN5 | c.1317C>A (p.Ile439=) c.567C>A (p.Ile189=) c.1107C>A (p.Ile369=) c.1604C>A c.*492C>A (n.*492C>A) c.1167C>A (p.Ile389=) c.1329C>A (p.Ile443=) | |
| X | g.50086630C= | CA2428768926 | CLCN5 | c.1317C= (p.Ile439=) c.567C= (p.Ile189=) c.1107C= (p.Ile369=) c.1604C= c.*492C= (n.*492C=) c.1167C= (p.Ile389=) c.1329C= (p.Ile443=) | |
| X | g.50086630C>G | CA413185657 | CLCN5 | c.1317C>G (p.Ile439Met) c.567C>G (p.Ile189Met) c.1107C>G (p.Ile369Met) c.1604C>G c.*492C>G (n.*492C>G) c.1167C>G (p.Ile389Met) c.1329C>G (p.Ile443Met) | |
| X | g.50086630C>T | CA10413862 | CLCN5 | c.1317C>T (p.Ile439=) c.567C>T (p.Ile189=) c.1107C>T (p.Ile369=) c.1604C>T c.*492C>T (n.*492C>T) c.1167C>T (p.Ile389=) c.1329C>T (p.Ile443=) | dbSNP ExAC gnomAD v2 gnomAD v4 |