| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.136328781del | CA2573136575 | PCCB | c.1422del (p.His476MetfsTer?) c.1353del (p.His453MetfsTer?) c.1482del (p.His496MetfsTer?) c.1515del (p.His507MetfsTer?) n.1623del c.885-5499del (n.885-5499del) c.1074del (p.His360MetfsTer?) c.1365del (p.His457MetfsTer?) c.*103del (n.*103del) c.1251del (p.His419MetfsTer?) | ClinVar dbSNP |
| 3 | g.136328780A= | CA1404304494 | PCCB | c.1421A= (p.Lys474=) c.1352A= (p.Lys451=) c.1481A= (p.Lys494=) c.1514A= (p.Lys505=) n.1622A= c.885-5500A= (n.885-5500A=) c.1073A= (p.Lys358=) c.1364A= (p.Lys455=) c.*102A= (n.*102A=) c.1250A= (p.Lys417=) | |
| 3 | g.136328780A>C | CA354649590 | PCCB | c.1421A>C (p.Lys474Thr) c.1352A>C (p.Lys451Thr) c.1481A>C (p.Lys494Thr) c.1514A>C (p.Lys505Thr) n.1622A>C c.885-5500A>C (n.885-5500A>C) c.1073A>C (p.Lys358Thr) c.1364A>C (p.Lys455Thr) c.*102A>C (n.*102A>C) c.1250A>C (p.Lys417Thr) | gnomAD v4 |
| 3 | g.136328780A>G | CA2632188 | PCCB | c.1421A>G (p.Lys474Arg) c.1352A>G (p.Lys451Arg) c.1481A>G (p.Lys494Arg) c.1514A>G (p.Lys505Arg) n.1622A>G c.885-5500A>G (n.885-5500A>G) c.1073A>G (p.Lys358Arg) c.1364A>G (p.Lys455Arg) c.*102A>G (n.*102A>G) c.1250A>G (p.Lys417Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136328780A>T | CA354649591 | PCCB | c.1421A>T (p.Lys474Ile) c.1352A>T (p.Lys451Ile) c.1481A>T (p.Lys494Ile) c.1514A>T (p.Lys505Ile) n.1622A>T c.885-5500A>T (n.885-5500A>T) c.1073A>T (p.Lys358Ile) c.1364A>T (p.Lys455Ile) c.*102A>T (n.*102A>T) c.1250A>T (p.Lys417Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.136328781A= | CA1404304495 | PCCB | c.1422A= (p.Lys474=) c.1353A= (p.Lys451=) c.1482A= (p.Lys494=) c.1515A= (p.Lys505=) n.1623A= c.885-5499A= (n.885-5499A=) c.1074A= (p.Lys358=) c.1365A= (p.Lys455=) c.*103A= (n.*103A=) c.1251A= (p.Lys417=) | |
| 3 | g.136328781A>C | CA354649592 | PCCB | c.1422A>C (p.Lys474Asn) c.1353A>C (p.Lys451Asn) c.1482A>C (p.Lys494Asn) c.1515A>C (p.Lys505Asn) n.1623A>C c.885-5499A>C (n.885-5499A>C) c.1074A>C (p.Lys358Asn) c.1365A>C (p.Lys455Asn) c.*103A>C (n.*103A>C) c.1251A>C (p.Lys417Asn) | |
| 3 | g.136328781A>G | CA2632189 | PCCB | c.1422A>G (p.Lys474=) c.1353A>G (p.Lys451=) c.1482A>G (p.Lys494=) c.1515A>G (p.Lys505=) n.1623A>G c.885-5499A>G (n.885-5499A>G) c.1074A>G (p.Lys358=) c.1365A>G (p.Lys455=) c.*103A>G (n.*103A>G) c.1251A>G (p.Lys417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136328781A>T | CA354649593 | PCCB | c.1422A>T (p.Lys474Asn) c.1353A>T (p.Lys451Asn) c.1482A>T (p.Lys494Asn) c.1515A>T (p.Lys505Asn) n.1623A>T c.885-5499A>T (n.885-5499A>T) c.1074A>T (p.Lys358Asn) c.1365A>T (p.Lys455Asn) c.*103A>T (n.*103A>T) c.1251A>T (p.Lys417Asn) | |
| 3 | g.136328782G>A | CA354649594 | PCCB | c.1423G>A (p.Gly475Arg) c.1354G>A (p.Gly452Arg) c.1483G>A (p.Gly495Arg) c.1516G>A (p.Gly506Arg) n.1624G>A c.885-5498G>A (n.885-5498G>A) c.1075G>A (p.Gly359Arg) c.1366G>A (p.Gly456Arg) c.*104G>A (n.*104G>A) c.1252G>A (p.Gly418Arg) | |
| 3 | g.136328782G>C | CA354649595 | PCCB | c.1423G>C (p.Gly475Arg) c.1354G>C (p.Gly452Arg) c.1483G>C (p.Gly495Arg) c.1516G>C (p.Gly506Arg) n.1624G>C c.885-5498G>C (n.885-5498G>C) c.1075G>C (p.Gly359Arg) c.1366G>C (p.Gly456Arg) c.*104G>C (n.*104G>C) c.1252G>C (p.Gly418Arg) | |
| 3 | g.136328782G>T | CA354649596 | PCCB | c.1423G>T (p.Gly475Trp) c.1354G>T (p.Gly452Trp) c.1483G>T (p.Gly495Trp) c.1516G>T (p.Gly506Trp) n.1624G>T c.885-5498G>T (n.885-5498G>T) c.1075G>T (p.Gly359Trp) c.1366G>T (p.Gly456Trp) c.*104G>T (n.*104G>T) c.1252G>T (p.Gly418Trp) | |
| 3 | g.136328783G>A | CA354649597 | PCCB | c.1424G>A (p.Gly475Glu) c.1355G>A (p.Gly452Glu) c.1484G>A (p.Gly495Glu) c.1517G>A (p.Gly506Glu) n.1625G>A c.885-5497G>A (n.885-5497G>A) c.1076G>A (p.Gly359Glu) c.1367G>A (p.Gly456Glu) c.*105G>A (n.*105G>A) c.1253G>A (p.Gly418Glu) | |
| 3 | g.136328783G>C | CA354649599 | PCCB | c.1424G>C (p.Gly475Ala) c.1355G>C (p.Gly452Ala) c.1484G>C (p.Gly495Ala) c.1517G>C (p.Gly506Ala) n.1625G>C c.885-5497G>C (n.885-5497G>C) c.1076G>C (p.Gly359Ala) c.1367G>C (p.Gly456Ala) c.*105G>C (n.*105G>C) c.1253G>C (p.Gly418Ala) | |
| 3 | g.136328783G= | CA1404304496 | PCCB | c.1424G= (p.Gly475=) c.1355G= (p.Gly452=) c.1484G= (p.Gly495=) c.1517G= (p.Gly506=) n.1625G= c.885-5497G= (n.885-5497G=) c.1076G= (p.Gly359=) c.1367G= (p.Gly456=) c.*105G= (n.*105G=) c.1253G= (p.Gly418=) | |
| 3 | g.136328783G>T | CA354649598 | PCCB | c.1424G>T (p.Gly475Val) c.1355G>T (p.Gly452Val) c.1484G>T (p.Gly495Val) c.1517G>T (p.Gly506Val) n.1625G>T c.885-5497G>T (n.885-5497G>T) c.1076G>T (p.Gly359Val) c.1367G>T (p.Gly456Val) c.*105G>T (n.*105G>T) c.1253G>T (p.Gly418Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.136328784G>A | CA435841730 | PCCB | c.1425G>A (p.Gly475=) c.1356G>A (p.Gly452=) c.1485G>A (p.Gly495=) c.1518G>A (p.Gly506=) n.1626G>A c.885-5496G>A (n.885-5496G>A) c.1077G>A (p.Gly359=) c.1368G>A (p.Gly456=) c.*106G>A (n.*106G>A) c.1254G>A (p.Gly418=) | |
| 3 | g.136328784G>C | CA435841731 | PCCB | c.1425G>C (p.Gly475=) c.1356G>C (p.Gly452=) c.1485G>C (p.Gly495=) c.1518G>C (p.Gly506=) n.1626G>C c.885-5496G>C (n.885-5496G>C) c.1077G>C (p.Gly359=) c.1368G>C (p.Gly456=) c.*106G>C (n.*106G>C) c.1254G>C (p.Gly418=) | |
| 3 | g.136328784G>T | CA435841732 | PCCB | c.1425G>T (p.Gly475=) c.1356G>T (p.Gly452=) c.1485G>T (p.Gly495=) c.1518G>T (p.Gly506=) n.1626G>T c.885-5496G>T (n.885-5496G>T) c.1077G>T (p.Gly359=) c.1368G>T (p.Gly456=) c.*106G>T (n.*106G>T) c.1254G>T (p.Gly418=) | ClinVar |
| 3 | g.136328785C>A | CA354649600 | PCCB | c.1426C>A (p.His476Asn) c.1357C>A (p.His453Asn) c.1486C>A (p.His496Asn) c.1519C>A (p.His507Asn) n.1627C>A c.885-5495C>A (n.885-5495C>A) c.1078C>A (p.His360Asn) c.1369C>A (p.His457Asn) c.*107C>A (n.*107C>A) c.1255C>A (p.His419Asn) | |
| 3 | g.136328785C= | CA1404304497 | PCCB | c.1426C= (p.His476=) c.1357C= (p.His453=) c.1486C= (p.His496=) c.1519C= (p.His507=) n.1627C= c.885-5495C= (n.885-5495C=) c.1078C= (p.His360=) c.1369C= (p.His457=) c.*107C= (n.*107C=) c.1255C= (p.His419=) | |
| 3 | g.136328785C>G | CA354649601 | PCCB | c.1426C>G (p.His476Asp) c.1357C>G (p.His453Asp) c.1486C>G (p.His496Asp) c.1519C>G (p.His507Asp) n.1627C>G c.885-5495C>G (n.885-5495C>G) c.1078C>G (p.His360Asp) c.1369C>G (p.His457Asp) c.*107C>G (n.*107C>G) c.1255C>G (p.His419Asp) | dbSNP gnomAD v4 |
| 3 | g.136328785C>T | CA354649602 | PCCB | c.1426C>T (p.His476Tyr) c.1357C>T (p.His453Tyr) c.1486C>T (p.His496Tyr) c.1519C>T (p.His507Tyr) n.1627C>T c.885-5495C>T (n.885-5495C>T) c.1078C>T (p.His360Tyr) c.1369C>T (p.His457Tyr) c.*107C>T (n.*107C>T) c.1255C>T (p.His419Tyr) | |
| 3 | g.136328786A= | CA1404304498 | PCCB | c.1427A= (p.His476=) c.1358A= (p.His453=) c.1487A= (p.His496=) c.1520A= (p.His507=) n.1628A= c.885-5494A= (n.885-5494A=) c.1079A= (p.His360=) c.1370A= (p.His457=) c.*108A= (n.*108A=) c.1256A= (p.His419=) | |
| 3 | g.136328786A>C | CA354649603 | PCCB | c.1427A>C (p.His476Pro) c.1358A>C (p.His453Pro) c.1487A>C (p.His496Pro) c.1520A>C (p.His507Pro) n.1628A>C c.885-5494A>C (n.885-5494A>C) c.1079A>C (p.His360Pro) c.1370A>C (p.His457Pro) c.*108A>C (n.*108A>C) c.1256A>C (p.His419Pro) | gnomAD v4 |
| 3 | g.136328786A>G | CA2632190 | PCCB | c.1427A>G (p.His476Arg) c.1358A>G (p.His453Arg) c.1487A>G (p.His496Arg) c.1520A>G (p.His507Arg) n.1628A>G c.885-5494A>G (n.885-5494A>G) c.1079A>G (p.His360Arg) c.1370A>G (p.His457Arg) c.*108A>G (n.*108A>G) c.1256A>G (p.His419Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.136328786A>T | CA354649604 | PCCB | c.1427A>T (p.His476Leu) c.1358A>T (p.His453Leu) c.1487A>T (p.His496Leu) c.1520A>T (p.His507Leu) n.1628A>T c.885-5494A>T (n.885-5494A>T) c.1079A>T (p.His360Leu) c.1370A>T (p.His457Leu) c.*108A>T (n.*108A>T) c.1256A>T (p.His419Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.136328787T>A | CA354649605 | PCCB | c.1428T>A (p.His476Gln) c.1359T>A (p.His453Gln) c.1488T>A (p.His496Gln) c.1521T>A (p.His507Gln) n.1629T>A c.885-5493T>A (n.885-5493T>A) c.1080T>A (p.His360Gln) c.1371T>A (p.His457Gln) c.*109T>A (n.*109T>A) c.1257T>A (p.His419Gln) | |
| 3 | g.136328787T>C | CA435841741 | PCCB | c.1428T>C (p.His476=) c.1359T>C (p.His453=) c.1488T>C (p.His496=) c.1521T>C (p.His507=) n.1629T>C c.885-5493T>C (n.885-5493T>C) c.1080T>C (p.His360=) c.1371T>C (p.His457=) c.*109T>C (n.*109T>C) c.1257T>C (p.His419=) | |
| 3 | g.136328787T>G | CA83821220 | PCCB | c.1428T>G (p.His476Gln) c.1359T>G (p.His453Gln) c.1488T>G (p.His496Gln) c.1521T>G (p.His507Gln) n.1629T>G c.885-5493T>G (n.885-5493T>G) c.1080T>G (p.His360Gln) c.1371T>G (p.His457Gln) c.*109T>G (n.*109T>G) c.1257T>G (p.His419Gln) | dbSNP gnomAD v4 |
| 3 | g.136328787T= | CA1404304499 | PCCB | c.1428T= (p.His476=) c.1359T= (p.His453=) c.1488T= (p.His496=) c.1521T= (p.His507=) n.1629T= c.885-5493T= (n.885-5493T=) c.1080T= (p.His360=) c.1371T= (p.His457=) c.*109T= (n.*109T=) c.1257T= (p.His419=) | |
| 3 | g.136328788G>A | CA354649606 | PCCB | c.1429G>A (p.Glu477Lys) c.1360G>A (p.Glu454Lys) c.1489G>A (p.Glu497Lys) c.1522G>A (p.Glu508Lys) n.1630G>A c.885-5492G>A (n.885-5492G>A) c.1081G>A (p.Glu361Lys) c.1372G>A (p.Glu458Lys) c.*110G>A (n.*110G>A) c.1258G>A (p.Glu420Lys) | |
| 3 | g.136328788G>C | CA354649607 | PCCB | c.1429G>C (p.Glu477Gln) c.1360G>C (p.Glu454Gln) c.1489G>C (p.Glu497Gln) c.1522G>C (p.Glu508Gln) n.1630G>C c.885-5492G>C (n.885-5492G>C) c.1081G>C (p.Glu361Gln) c.1372G>C (p.Glu458Gln) c.*110G>C (n.*110G>C) c.1258G>C (p.Glu420Gln) | |
| 3 | g.136328788G= | CA1404304500 | PCCB | c.1429G= (p.Glu477=) c.1360G= (p.Glu454=) c.1489G= (p.Glu497=) c.1522G= (p.Glu508=) n.1630G= c.885-5492G= (n.885-5492G=) c.1081G= (p.Glu361=) c.1372G= (p.Glu458=) c.*110G= (n.*110G=) c.1258G= (p.Glu420=) | |
| 3 | g.136328788G>T | CA354649608 | PCCB | c.1429G>T (p.Glu477Ter) c.1360G>T (p.Glu454Ter) c.1489G>T (p.Glu497Ter) c.1522G>T (p.Glu508Ter) n.1630G>T c.885-5492G>T (n.885-5492G>T) c.1081G>T (p.Glu361Ter) c.1372G>T (p.Glu458Ter) c.*110G>T (n.*110G>T) c.1258G>T (p.Glu420Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.136328789A= | CA1404304501 | PCCB | c.1430A= (p.Glu477=) c.1361A= (p.Glu454=) c.1490A= (p.Glu497=) c.1523A= (p.Glu508=) n.1631A= c.885-5491A= (n.885-5491A=) c.1082A= (p.Glu361=) c.1373A= (p.Glu458=) c.*111A= (n.*111A=) c.1259A= (p.Glu420=) | |
| 3 | g.136328789A>C | CA354649611 | PCCB | c.1430A>C (p.Glu477Ala) c.1361A>C (p.Glu454Ala) c.1490A>C (p.Glu497Ala) c.1523A>C (p.Glu508Ala) n.1631A>C c.885-5491A>C (n.885-5491A>C) c.1082A>C (p.Glu361Ala) c.1373A>C (p.Glu458Ala) c.*111A>C (n.*111A>C) c.1259A>C (p.Glu420Ala) | |
| 3 | g.136328789A>G | CA354649610 | PCCB | c.1430A>G (p.Glu477Gly) c.1361A>G (p.Glu454Gly) c.1490A>G (p.Glu497Gly) c.1523A>G (p.Glu508Gly) n.1631A>G c.885-5491A>G (n.885-5491A>G) c.1082A>G (p.Glu361Gly) c.1373A>G (p.Glu458Gly) c.*111A>G (n.*111A>G) c.1259A>G (p.Glu420Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.136328789A>T | CA354649609 | PCCB | c.1430A>T (p.Glu477Val) c.1361A>T (p.Glu454Val) c.1490A>T (p.Glu497Val) c.1523A>T (p.Glu508Val) n.1631A>T c.885-5491A>T (n.885-5491A>T) c.1082A>T (p.Glu361Val) c.1373A>T (p.Glu458Val) c.*111A>T (n.*111A>T) c.1259A>T (p.Glu420Val) | |
| 3 | g.136328790G>A | CA83821224 | PCCB | c.1431G>A (p.Glu477=) c.1362G>A (p.Glu454=) c.1491G>A (p.Glu497=) c.1524G>A (p.Glu508=) n.1632G>A c.885-5490G>A (n.885-5490G>A) c.1083G>A (p.Glu361=) c.1374G>A (p.Glu458=) c.*112G>A (n.*112G>A) c.1260G>A (p.Glu420=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136328790G>C | CA354649612 | PCCB | c.1431G>C (p.Glu477Asp) c.1362G>C (p.Glu454Asp) c.1491G>C (p.Glu497Asp) c.1524G>C (p.Glu508Asp) n.1632G>C c.885-5490G>C (n.885-5490G>C) c.1083G>C (p.Glu361Asp) c.1374G>C (p.Glu458Asp) c.*112G>C (n.*112G>C) c.1260G>C (p.Glu420Asp) | |
| 3 | g.136328790G= | CA1404304502 | PCCB | c.1431G= (p.Glu477=) c.1362G= (p.Glu454=) c.1491G= (p.Glu497=) c.1524G= (p.Glu508=) n.1632G= c.885-5490G= (n.885-5490G=) c.1083G= (p.Glu361=) c.1374G= (p.Glu458=) c.*112G= (n.*112G=) c.1260G= (p.Glu420=) | |
| 3 | g.136328790G>T | CA354649613 | PCCB | c.1431G>T (p.Glu477Asp) c.1362G>T (p.Glu454Asp) c.1491G>T (p.Glu497Asp) c.1524G>T (p.Glu508Asp) n.1632G>T c.885-5490G>T (n.885-5490G>T) c.1083G>T (p.Glu361Asp) c.1374G>T (p.Glu458Asp) c.*112G>T (n.*112G>T) c.1260G>T (p.Glu420Asp) | |
| 3 | g.136328791A= | CA1404304503 | PCCB | c.1432A= (p.Asn478=) c.1363A= (p.Asn455=) c.1492A= (p.Asn498=) c.1525A= (p.Asn509=) n.1633A= c.885-5489A= (n.885-5489A=) c.1084A= (p.Asn362=) c.1375A= (p.Asn459=) c.*113A= (n.*113A=) c.1261A= (p.Asn421=) | |
| 3 | g.136328791A>C | CA354649614 | PCCB | c.1432A>C (p.Asn478His) c.1363A>C (p.Asn455His) c.1492A>C (p.Asn498His) c.1525A>C (p.Asn509His) n.1633A>C c.885-5489A>C (n.885-5489A>C) c.1084A>C (p.Asn362His) c.1375A>C (p.Asn459His) c.*113A>C (n.*113A>C) c.1261A>C (p.Asn421His) | |
| 3 | g.136328791A>G | CA354649615 | PCCB | c.1432A>G (p.Asn478Asp) c.1363A>G (p.Asn455Asp) c.1492A>G (p.Asn498Asp) c.1525A>G (p.Asn509Asp) n.1633A>G c.885-5489A>G (n.885-5489A>G) c.1084A>G (p.Asn362Asp) c.1375A>G (p.Asn459Asp) c.*113A>G (n.*113A>G) c.1261A>G (p.Asn421Asp) | gnomAD v4 |
| 3 | g.136328791A>T | CA354649616 | PCCB | c.1432A>T (p.Asn478Tyr) c.1363A>T (p.Asn455Tyr) c.1492A>T (p.Asn498Tyr) c.1525A>T (p.Asn509Tyr) n.1633A>T c.885-5489A>T (n.885-5489A>T) c.1084A>T (p.Asn362Tyr) c.1375A>T (p.Asn459Tyr) c.*113A>T (n.*113A>T) c.1261A>T (p.Asn421Tyr) | |
| 3 | g.136328792A>C | CA354649617 | PCCB | c.1433A>C (p.Asn478Thr) c.1364A>C (p.Asn455Thr) c.1493A>C (p.Asn498Thr) c.1526A>C (p.Asn509Thr) n.1634A>C c.885-5488A>C (n.885-5488A>C) c.1085A>C (p.Asn362Thr) c.1376A>C (p.Asn459Thr) c.*114A>C (n.*114A>C) c.1262A>C (p.Asn421Thr) | |
| 3 | g.136328792A>G | CA354649618 | PCCB | c.1433A>G (p.Asn478Ser) c.1364A>G (p.Asn455Ser) c.1493A>G (p.Asn498Ser) c.1526A>G (p.Asn509Ser) n.1634A>G c.885-5488A>G (n.885-5488A>G) c.1085A>G (p.Asn362Ser) c.1376A>G (p.Asn459Ser) c.*114A>G (n.*114A>G) c.1262A>G (p.Asn421Ser) | |
| 3 | g.136328792A>T | CA354649619 | PCCB | c.1433A>T (p.Asn478Ile) c.1364A>T (p.Asn455Ile) c.1493A>T (p.Asn498Ile) c.1526A>T (p.Asn509Ile) n.1634A>T c.885-5488A>T (n.885-5488A>T) c.1085A>T (p.Asn362Ile) c.1376A>T (p.Asn459Ile) c.*114A>T (n.*114A>T) c.1262A>T (p.Asn421Ile) |