Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.93923476T>A | CA371697109 | PDP1 | c.1417T>A (p.Phe473Ile) c.1492T>A (p.Phe498Ile) c.1471T>A (p.Phe491Ile) c.1579T>A (p.Phe527Ile) | |
8 | g.93923476T>C | CA4808824 | PDP1 | c.1417T>C (p.Phe473Leu) c.1492T>C (p.Phe498Leu) c.1471T>C (p.Phe491Leu) c.1579T>C (p.Phe527Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923476T>G | CA371697107 | PDP1 | c.1417T>G (p.Phe473Val) c.1492T>G (p.Phe498Val) c.1471T>G (p.Phe491Val) c.1579T>G (p.Phe527Val) | gnomAD v4 |
8 | g.93923476T= | CA1803280967 | PDP1 | c.1417T= (p.Phe473=) c.1492T= (p.Phe498=) c.1471T= (p.Phe491=) c.1579T= (p.Phe527=) | |
8 | g.93923477T>A | CA371697113 | PDP1 | c.1418T>A (p.Phe473Tyr) c.1493T>A (p.Phe498Tyr) c.1472T>A (p.Phe491Tyr) c.1580T>A (p.Phe527Tyr) | |
8 | g.93923477T>C | CA371697116 | PDP1 | c.1418T>C (p.Phe473Ser) c.1493T>C (p.Phe498Ser) c.1472T>C (p.Phe491Ser) c.1580T>C (p.Phe527Ser) | |
8 | g.93923477T>G | CA371697120 | PDP1 | c.1418T>G (p.Phe473Cys) c.1493T>G (p.Phe498Cys) c.1472T>G (p.Phe491Cys) c.1580T>G (p.Phe527Cys) | |
8 | g.93923478T>A | CA371697125 | PDP1 | c.1419T>A (p.Phe473Leu) c.1494T>A (p.Phe498Leu) c.1473T>A (p.Phe491Leu) c.1581T>A (p.Phe527Leu) | |
8 | g.93923478T>C | CA462118247 | PDP1 | c.1419T>C (p.Phe473=) c.1494T>C (p.Phe498=) c.1473T>C (p.Phe491=) c.1581T>C (p.Phe527=) | |
8 | g.93923478T>G | CA371697130 | PDP1 | c.1419T>G (p.Phe473Leu) c.1494T>G (p.Phe498Leu) c.1473T>G (p.Phe491Leu) c.1581T>G (p.Phe527Leu) | |
8 | g.93923479G>A | CA371697137 | PDP1 | c.1420G>A (p.Glu474Lys) c.1495G>A (p.Glu499Lys) c.1474G>A (p.Glu492Lys) c.1582G>A (p.Glu528Lys) | |
8 | g.93923479G>C | CA371697141 | PDP1 | c.1420G>C (p.Glu474Gln) c.1495G>C (p.Glu499Gln) c.1474G>C (p.Glu492Gln) c.1582G>C (p.Glu528Gln) | |
8 | g.93923479G>T | CA371697153 | PDP1 | c.1420G>T (p.Glu474Ter) c.1495G>T (p.Glu499Ter) c.1474G>T (p.Glu492Ter) c.1582G>T (p.Glu528Ter) | gnomAD v4 |
8 | g.93923480A>C | CA371697156 | PDP1 | c.1421A>C (p.Glu474Ala) c.1496A>C (p.Glu499Ala) c.1475A>C (p.Glu492Ala) c.1583A>C (p.Glu528Ala) | |
8 | g.93923480A>G | CA371697159 | PDP1 | c.1421A>G (p.Glu474Gly) c.1496A>G (p.Glu499Gly) c.1475A>G (p.Glu492Gly) c.1583A>G (p.Glu528Gly) | gnomAD v4 |
8 | g.93923480A>T | CA371697162 | PDP1 | c.1421A>T (p.Glu474Val) c.1496A>T (p.Glu499Val) c.1475A>T (p.Glu492Val) c.1583A>T (p.Glu528Val) | |
8 | g.93923481G>A | CA462118248 | PDP1 | c.1422G>A (p.Glu474=) c.1497G>A (p.Glu499=) c.1476G>A (p.Glu492=) c.1584G>A (p.Glu528=) | gnomAD v4 |
8 | g.93923481G>C | CA371697168 | PDP1 | c.1422G>C (p.Glu474Asp) c.1497G>C (p.Glu499Asp) c.1476G>C (p.Glu492Asp) c.1584G>C (p.Glu528Asp) | |
8 | g.93923481G>T | CA371697165 | PDP1 | c.1422G>T (p.Glu474Asp) c.1497G>T (p.Glu499Asp) c.1476G>T (p.Glu492Asp) c.1584G>T (p.Glu528Asp) | |
8 | g.93923482G>A | CA371697171 | PDP1 | c.1423G>A (p.Asp475Asn) c.1498G>A (p.Asp500Asn) c.1477G>A (p.Asp493Asn) c.1585G>A (p.Asp529Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923482G>C | CA371697174 | PDP1 | c.1423G>C (p.Asp475His) c.1498G>C (p.Asp500His) c.1477G>C (p.Asp493His) c.1585G>C (p.Asp529His) | |
8 | g.93923482G= | CA1803280968 | PDP1 | c.1423G= (p.Asp475=) c.1498G= (p.Asp500=) c.1477G= (p.Asp493=) c.1585G= (p.Asp529=) | |
8 | g.93923482G>T | CA4808825 | PDP1 | c.1423G>T (p.Asp475Tyr) c.1498G>T (p.Asp500Tyr) c.1477G>T (p.Asp493Tyr) c.1585G>T (p.Asp529Tyr) | dbSNP ExAC gnomAD v4 |
8 | g.93923483A>C | CA371697183 | PDP1 | c.1424A>C (p.Asp475Ala) c.1499A>C (p.Asp500Ala) c.1478A>C (p.Asp493Ala) c.1586A>C (p.Asp529Ala) | |
8 | g.93923483A>G | CA371697184 | PDP1 | c.1424A>G (p.Asp475Gly) c.1499A>G (p.Asp500Gly) c.1478A>G (p.Asp493Gly) c.1586A>G (p.Asp529Gly) | |
8 | g.93923483A>T | CA371697185 | PDP1 | c.1424A>T (p.Asp475Val) c.1499A>T (p.Asp500Val) c.1478A>T (p.Asp493Val) c.1586A>T (p.Asp529Val) | gnomAD v4 |
8 | g.93923484T>A | CA4808826 | PDP1 | c.1425T>A (p.Asp475Glu) c.1500T>A (p.Asp500Glu) c.1479T>A (p.Asp493Glu) c.1587T>A (p.Asp529Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923484T>C | CA462118249 | PDP1 | c.1425T>C (p.Asp475=) c.1500T>C (p.Asp500=) c.1479T>C (p.Asp493=) c.1587T>C (p.Asp529=) | |
8 | g.93923484T>G | CA371697186 | PDP1 | c.1425T>G (p.Asp475Glu) c.1500T>G (p.Asp500Glu) c.1479T>G (p.Asp493Glu) c.1587T>G (p.Asp529Glu) | |
8 | g.93923484T= | CA1803280969 | PDP1 | c.1425T= (p.Asp475=) c.1500T= (p.Asp500=) c.1479T= (p.Asp493=) c.1587T= (p.Asp529=) | |
8 | g.93923485C>A | CA371697189 | PDP1 | c.1426C>A (p.Gln476Lys) c.1501C>A (p.Gln501Lys) c.1480C>A (p.Gln494Lys) c.1588C>A (p.Gln530Lys) | gnomAD v4 |
8 | g.93923485C>G | CA371697191 | PDP1 | c.1426C>G (p.Gln476Glu) c.1501C>G (p.Gln501Glu) c.1480C>G (p.Gln494Glu) c.1588C>G (p.Gln530Glu) | |
8 | g.93923485C>T | CA371697194 | PDP1 | c.1426C>T (p.Gln476Ter) c.1501C>T (p.Gln501Ter) c.1480C>T (p.Gln494Ter) c.1588C>T (p.Gln530Ter) | |
8 | g.93923486A>C | CA371697197 | PDP1 | c.1427A>C (p.Gln476Pro) c.1502A>C (p.Gln501Pro) c.1481A>C (p.Gln494Pro) c.1589A>C (p.Gln530Pro) | |
8 | g.93923486A>G | CA371697201 | PDP1 | c.1427A>G (p.Gln476Arg) c.1502A>G (p.Gln501Arg) c.1481A>G (p.Gln494Arg) c.1589A>G (p.Gln530Arg) | gnomAD v4 |
8 | g.93923486A>T | CA371697203 | PDP1 | c.1427A>T (p.Gln476Leu) c.1502A>T (p.Gln501Leu) c.1481A>T (p.Gln494Leu) c.1589A>T (p.Gln530Leu) | |
8 | g.93923486_93923493del | CA2687927875 | PDP1 | c.1427_1434del (p.Gln476ArgfsTer18) c.1502_1509del (p.Gln501ArgfsTer18) c.1481_1488del (p.Gln494ArgfsTer18) c.1589_1596del (p.Gln530ArgfsTer18) | gnomAD v4 |
8 | g.93923487G>A | CA462118250 | PDP1 | c.1428G>A (p.Gln476=) c.1503G>A (p.Gln501=) c.1482G>A (p.Gln494=) c.1590G>A (p.Gln530=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923487G>C | CA371697207 | PDP1 | c.1428G>C (p.Gln476His) c.1503G>C (p.Gln501His) c.1482G>C (p.Gln494His) c.1590G>C (p.Gln530His) | |
8 | g.93923487G= | CA1803280970 | PDP1 | c.1428G= (p.Gln476=) c.1503G= (p.Gln501=) c.1482G= (p.Gln494=) c.1590G= (p.Gln530=) | |
8 | g.93923487G>T | CA371697205 | PDP1 | c.1428G>T (p.Gln476His) c.1503G>T (p.Gln501His) c.1482G>T (p.Gln494His) c.1590G>T (p.Gln530His) | dbSNP gnomAD v4 |
8 | g.93923488A= | CA1803280971 | PDP1 | c.1429A= (p.Asn477=) c.1504A= (p.Asn502=) c.1483A= (p.Asn495=) c.1591A= (p.Asn531=) | |
8 | g.93923488A>C | CA371697209 | PDP1 | c.1429A>C (p.Asn477His) c.1504A>C (p.Asn502His) c.1483A>C (p.Asn495His) c.1591A>C (p.Asn531His) | |
8 | g.93923488A>G | CA4808827 | PDP1 | c.1429A>G (p.Asn477Asp) c.1504A>G (p.Asn502Asp) c.1483A>G (p.Asn495Asp) c.1591A>G (p.Asn531Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923488A>T | CA371697222 | PDP1 | c.1429A>T (p.Asn477Tyr) c.1504A>T (p.Asn502Tyr) c.1483A>T (p.Asn495Tyr) c.1591A>T (p.Asn531Tyr) | |
8 | g.93923489A>C | CA371697227 | PDP1 | c.1430A>C (p.Asn477Thr) c.1505A>C (p.Asn502Thr) c.1484A>C (p.Asn495Thr) c.1592A>C (p.Asn531Thr) | |
8 | g.93923489A>G | CA371697231 | PDP1 | c.1430A>G (p.Asn477Ser) c.1505A>G (p.Asn502Ser) c.1484A>G (p.Asn495Ser) c.1592A>G (p.Asn531Ser) | gnomAD v4 |
8 | g.93923489A>T | CA371697234 | PDP1 | c.1430A>T (p.Asn477Ile) c.1505A>T (p.Asn502Ile) c.1484A>T (p.Asn495Ile) c.1592A>T (p.Asn531Ile) | |
8 | g.93923490C>A | CA371697240 | PDP1 | c.1431C>A (p.Asn477Lys) c.1506C>A (p.Asn502Lys) c.1485C>A (p.Asn495Lys) c.1593C>A (p.Asn531Lys) | |
8 | g.93923490C= | CA1803280972 | PDP1 | c.1431C= (p.Asn477=) c.1506C= (p.Asn502=) c.1485C= (p.Asn495=) c.1593C= (p.Asn531=) | |
8 | g.93923490C>G | CA371697238 | PDP1 | c.1431C>G (p.Asn477Lys) c.1506C>G (p.Asn502Lys) c.1485C>G (p.Asn495Lys) c.1593C>G (p.Asn531Lys) | |
8 | g.93923490C>T | CA292762 | PDP1 | c.1431C>T (p.Asn477=) c.1506C>T (p.Asn502=) c.1485C>T (p.Asn495=) c.1593C>T (p.Asn531=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923491G>A | CA4808828 | PDP1 | c.1432G>A (p.Ala478Thr) c.1507G>A (p.Ala503Thr) c.1486G>A (p.Ala496Thr) c.1594G>A (p.Ala532Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.93923491G>C | CA371697249 | PDP1 | c.1432G>C (p.Ala478Pro) c.1507G>C (p.Ala503Pro) c.1486G>C (p.Ala496Pro) c.1594G>C (p.Ala532Pro) | COSMIC |
8 | g.93923491G= | CA1803280973 | PDP1 | c.1432G= (p.Ala478=) c.1507G= (p.Ala503=) c.1486G= (p.Ala496=) c.1594G= (p.Ala532=) | |
8 | g.93923491G>T | CA371697252 | PDP1 | c.1432G>T (p.Ala478Ser) c.1507G>T (p.Ala503Ser) c.1486G>T (p.Ala496Ser) c.1594G>T (p.Ala532Ser) | dbSNP |
8 | g.93923492C>A | CA371697257 | PDP1 | c.1433C>A (p.Ala478Glu) c.1508C>A (p.Ala503Glu) c.1487C>A (p.Ala496Glu) c.1595C>A (p.Ala532Glu) | |
8 | g.93923492C>G | CA371697261 | PDP1 | c.1433C>G (p.Ala478Gly) c.1508C>G (p.Ala503Gly) c.1487C>G (p.Ala496Gly) c.1595C>G (p.Ala532Gly) | |
8 | g.93923492C>T | CA371697264 | PDP1 | c.1433C>T (p.Ala478Val) c.1508C>T (p.Ala503Val) c.1487C>T (p.Ala496Val) c.1595C>T (p.Ala532Val) | |
8 | g.93923493A= | CA1803280974 | PDP1 | c.1434A= (p.Ala478=) c.1509A= (p.Ala503=) c.1488A= (p.Ala496=) c.1596A= (p.Ala532=) | |
8 | g.93923493A>C | CA462118251 | PDP1 | c.1434A>C (p.Ala478=) c.1509A>C (p.Ala503=) c.1488A>C (p.Ala496=) c.1596A>C (p.Ala532=) | dbSNP |
8 | g.93923493A>G | CA4808829 | PDP1 | c.1434A>G (p.Ala478=) c.1509A>G (p.Ala503=) c.1488A>G (p.Ala496=) c.1596A>G (p.Ala532=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923493A>T | CA462118252 | PDP1 | c.1434A>T (p.Ala478=) c.1509A>T (p.Ala503=) c.1488A>T (p.Ala496=) c.1596A>T (p.Ala532=) | |
8 | g.93923494G>A | CA371697273 | PDP1 | c.1435G>A (p.Ala479Thr) c.1510G>A (p.Ala504Thr) c.1489G>A (p.Ala497Thr) c.1597G>A (p.Ala533Thr) | |
8 | g.93923494G>C | CA371697281 | PDP1 | c.1435G>C (p.Ala479Pro) c.1510G>C (p.Ala504Pro) c.1489G>C (p.Ala497Pro) c.1597G>C (p.Ala533Pro) | |
8 | g.93923494G>T | CA371697279 | PDP1 | c.1435G>T (p.Ala479Ser) c.1510G>T (p.Ala504Ser) c.1489G>T (p.Ala497Ser) c.1597G>T (p.Ala533Ser) | gnomAD v4 |
8 | g.93923495C>A | CA371697284 | PDP1 | c.1436C>A (p.Ala479Glu) c.1511C>A (p.Ala504Glu) c.1490C>A (p.Ala497Glu) c.1598C>A (p.Ala533Glu) | |
8 | g.93923495C>G | CA371697290 | PDP1 | c.1436C>G (p.Ala479Gly) c.1511C>G (p.Ala504Gly) c.1490C>G (p.Ala497Gly) c.1598C>G (p.Ala533Gly) | |
8 | g.93923495C>T | CA371697292 | PDP1 | c.1436C>T (p.Ala479Val) c.1511C>T (p.Ala504Val) c.1490C>T (p.Ala497Val) c.1598C>T (p.Ala533Val) | |
8 | g.93923496A>C | CA462118253 | PDP1 | c.1437A>C (p.Ala479=) c.1512A>C (p.Ala504=) c.1491A>C (p.Ala497=) c.1599A>C (p.Ala533=) | |
8 | g.93923496A>G | CA462118254 | PDP1 | c.1437A>G (p.Ala479=) c.1512A>G (p.Ala504=) c.1491A>G (p.Ala497=) c.1599A>G (p.Ala533=) | |
8 | g.93923496A>T | CA462118255 | PDP1 | c.1437A>T (p.Ala479=) c.1512A>T (p.Ala504=) c.1491A>T (p.Ala497=) c.1599A>T (p.Ala533=) | |
8 | g.93923497A>C | CA371697300 | PDP1 | c.1438A>C (p.Thr480Pro) c.1513A>C (p.Thr505Pro) c.1492A>C (p.Thr498Pro) c.1600A>C (p.Thr534Pro) | |
8 | g.93923497A>G | CA371697301 | PDP1 | c.1438A>G (p.Thr480Ala) c.1513A>G (p.Thr505Ala) c.1492A>G (p.Thr498Ala) c.1600A>G (p.Thr534Ala) | |
8 | g.93923497A>T | CA371697303 | PDP1 | c.1438A>T (p.Thr480Ser) c.1513A>T (p.Thr505Ser) c.1492A>T (p.Thr498Ser) c.1600A>T (p.Thr534Ser) | gnomAD v4 |
8 | g.93923498C>A | CA371697307 | PDP1 | c.1439C>A (p.Thr480Asn) c.1514C>A (p.Thr505Asn) c.1493C>A (p.Thr498Asn) c.1601C>A (p.Thr534Asn) | |
8 | g.93923498C>G | CA371697309 | PDP1 | c.1439C>G (p.Thr480Ser) c.1514C>G (p.Thr505Ser) c.1493C>G (p.Thr498Ser) c.1601C>G (p.Thr534Ser) | |
8 | g.93923498C>T | CA371697312 | PDP1 | c.1439C>T (p.Thr480Ile) c.1514C>T (p.Thr505Ile) c.1493C>T (p.Thr498Ile) c.1601C>T (p.Thr534Ile) | gnomAD v4 |
8 | g.93923499C>A | CA462118256 | PDP1 | c.1440C>A (p.Thr480=) c.1515C>A (p.Thr505=) c.1494C>A (p.Thr498=) c.1602C>A (p.Thr534=) | gnomAD v4 |
8 | g.93923499C>G | CA462118257 | PDP1 | c.1440C>G (p.Thr480=) c.1515C>G (p.Thr505=) c.1494C>G (p.Thr498=) c.1602C>G (p.Thr534=) | |
8 | g.93923499C>T | CA462118258 | PDP1 | c.1440C>T (p.Thr480=) c.1515C>T (p.Thr505=) c.1494C>T (p.Thr498=) c.1602C>T (p.Thr534=) | |
8 | g.93923500C>A | CA371697316 | PDP1 | c.1441C>A (p.His481Asn) c.1516C>A (p.His506Asn) c.1495C>A (p.His499Asn) c.1603C>A (p.His535Asn) | |
8 | g.93923500C>G | CA371697320 | PDP1 | c.1441C>G (p.His481Asp) c.1516C>G (p.His506Asp) c.1495C>G (p.His499Asp) c.1603C>G (p.His535Asp) | |
8 | g.93923500C>T | CA371697323 | PDP1 | c.1441C>T (p.His481Tyr) c.1516C>T (p.His506Tyr) c.1495C>T (p.His499Tyr) c.1603C>T (p.His535Tyr) | |
8 | g.93923501A>C | CA371697326 | PDP1 | c.1442A>C (p.His481Pro) c.1517A>C (p.His506Pro) c.1496A>C (p.His499Pro) c.1604A>C (p.His535Pro) | |
8 | g.93923501A>G | CA371697332 | PDP1 | c.1442A>G (p.His481Arg) c.1517A>G (p.His506Arg) c.1496A>G (p.His499Arg) c.1604A>G (p.His535Arg) | gnomAD v4 |
8 | g.93923501A>T | CA371697328 | PDP1 | c.1442A>T (p.His481Leu) c.1517A>T (p.His506Leu) c.1496A>T (p.His499Leu) c.1604A>T (p.His535Leu) | |
8 | g.93923502T>A | CA371697343 | PDP1 | c.1443T>A (p.His481Gln) c.1518T>A (p.His506Gln) c.1497T>A (p.His499Gln) c.1605T>A (p.His535Gln) | |
8 | g.93923502T>C | CA462118259 | PDP1 | c.1443T>C (p.His481=) c.1518T>C (p.His506=) c.1497T>C (p.His499=) c.1605T>C (p.His535=) | |
8 | g.93923502T>G | CA371697358 | PDP1 | c.1443T>G (p.His481Gln) c.1518T>G (p.His506Gln) c.1497T>G (p.His499Gln) c.1605T>G (p.His535Gln) | |
8 | g.93923503C>A | CA371697363 | PDP1 | c.1444C>A (p.Leu482Ile) c.1519C>A (p.Leu507Ile) c.1498C>A (p.Leu500Ile) c.1606C>A (p.Leu536Ile) | gnomAD v4 |
8 | g.93923503C>G | CA371697364 | PDP1 | c.1444C>G (p.Leu482Val) c.1519C>G (p.Leu507Val) c.1498C>G (p.Leu500Val) c.1606C>G (p.Leu536Val) | gnomAD v4 |
8 | g.93923503C>T | CA371697367 | PDP1 | c.1444C>T (p.Leu482Phe) c.1519C>T (p.Leu507Phe) c.1498C>T (p.Leu500Phe) c.1606C>T (p.Leu536Phe) | ClinVar |
8 | g.93923504T>A | CA371697370 | PDP1 | c.1445T>A (p.Leu482His) c.1520T>A (p.Leu507His) c.1499T>A (p.Leu500His) c.1607T>A (p.Leu536His) | |
8 | g.93923504T>C | CA371697373 | PDP1 | c.1445T>C (p.Leu482Pro) c.1520T>C (p.Leu507Pro) c.1499T>C (p.Leu500Pro) c.1607T>C (p.Leu536Pro) | |
8 | g.93923504T>G | CA371697377 | PDP1 | c.1445T>G (p.Leu482Arg) c.1520T>G (p.Leu507Arg) c.1499T>G (p.Leu500Arg) c.1607T>G (p.Leu536Arg) | |
8 | g.93923505C>A | CA4808831 | PDP1 | c.1446C>A (p.Leu482=) c.1521C>A (p.Leu507=) c.1500C>A (p.Leu500=) c.1608C>A (p.Leu536=) | dbSNP ExAC gnomAD v2 |
8 | g.93923505C= | CA1803280975 | PDP1 | c.1446C= (p.Leu482=) c.1521C= (p.Leu507=) c.1500C= (p.Leu500=) c.1608C= (p.Leu536=) | |
8 | g.93923505C>G | CA462118260 | PDP1 | c.1446C>G (p.Leu482=) c.1521C>G (p.Leu507=) c.1500C>G (p.Leu500=) c.1608C>G (p.Leu536=) | gnomAD v4 |
8 | g.93923505C>T | CA4808830 | PDP1 | c.1446C>T (p.Leu482=) c.1521C>T (p.Leu507=) c.1500C>T (p.Leu500=) c.1608C>T (p.Leu536=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923506A= | CA1803280976 | PDP1 | c.1447A= (p.Ile483=) c.1522A= (p.Ile508=) c.1501A= (p.Ile501=) c.1609A= (p.Ile537=) | |
8 | g.93923506A>C | CA371697387 | PDP1 | c.1447A>C (p.Ile483Leu) c.1522A>C (p.Ile508Leu) c.1501A>C (p.Ile501Leu) c.1609A>C (p.Ile537Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923506A>G | CA4808832 | PDP1 | c.1447A>G (p.Ile483Val) c.1522A>G (p.Ile508Val) c.1501A>G (p.Ile501Val) c.1609A>G (p.Ile537Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923506A>T | CA371697390 | PDP1 | c.1447A>T (p.Ile483Phe) c.1522A>T (p.Ile508Phe) c.1501A>T (p.Ile501Phe) c.1609A>T (p.Ile537Phe) | |
8 | g.93923507T>A | CA371697407 | PDP1 | c.1448T>A (p.Ile483Asn) c.1523T>A (p.Ile508Asn) c.1502T>A (p.Ile501Asn) c.1610T>A (p.Ile537Asn) | |
8 | g.93923507T>C | CA371697399 | PDP1 | c.1448T>C (p.Ile483Thr) c.1523T>C (p.Ile508Thr) c.1502T>C (p.Ile501Thr) c.1610T>C (p.Ile537Thr) | |
8 | g.93923507T>G | CA371697395 | PDP1 | c.1448T>G (p.Ile483Ser) c.1523T>G (p.Ile508Ser) c.1502T>G (p.Ile501Ser) c.1610T>G (p.Ile537Ser) | |
8 | g.93923508T>A | CA462118261 | PDP1 | c.1449T>A (p.Ile483=) c.1524T>A (p.Ile508=) c.1503T>A (p.Ile501=) c.1611T>A (p.Ile537=) | |
8 | g.93923508T>C | CA462118262 | PDP1 | c.1449T>C (p.Ile483=) c.1524T>C (p.Ile508=) c.1503T>C (p.Ile501=) c.1611T>C (p.Ile537=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923508T>G | CA371697408 | PDP1 | c.1449T>G (p.Ile483Met) c.1524T>G (p.Ile508Met) c.1503T>G (p.Ile501Met) c.1611T>G (p.Ile537Met) | |
8 | g.93923508T= | CA1803280977 | PDP1 | c.1449T= (p.Ile483=) c.1524T= (p.Ile508=) c.1503T= (p.Ile501=) c.1611T= (p.Ile537=) | |
8 | g.93923509C>A | CA371697412 | PDP1 | c.1450C>A (p.Arg484Ser) c.1525C>A (p.Arg509Ser) c.1504C>A (p.Arg502Ser) c.1612C>A (p.Arg538Ser) | gnomAD v4 |
8 | g.93923509C= | CA1803280978 | PDP1 | c.1450C= (p.Arg484=) c.1525C= (p.Arg509=) c.1504C= (p.Arg502=) c.1612C= (p.Arg538=) | |
8 | g.93923509C>G | CA371697415 | PDP1 | c.1450C>G (p.Arg484Gly) c.1525C>G (p.Arg509Gly) c.1504C>G (p.Arg502Gly) c.1612C>G (p.Arg538Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923509C>T | CA4808833 | PDP1 | c.1450C>T (p.Arg484Cys) c.1525C>T (p.Arg509Cys) c.1504C>T (p.Arg502Cys) c.1612C>T (p.Arg538Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.93923510G>A | CA371697423 | PDP1 | c.1451G>A (p.Arg484His) c.1526G>A (p.Arg509His) c.1505G>A (p.Arg502His) c.1613G>A (p.Arg538His) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.93923510G>C | CA371697430 | PDP1 | c.1451G>C (p.Arg484Pro) c.1526G>C (p.Arg509Pro) c.1505G>C (p.Arg502Pro) c.1613G>C (p.Arg538Pro) | |
8 | g.93923510G= | CA1803280979 | PDP1 | c.1451G= (p.Arg484=) c.1526G= (p.Arg509=) c.1505G= (p.Arg502=) c.1613G= (p.Arg538=) | |
8 | g.93923510G>T | CA371697431 | PDP1 | c.1451G>T (p.Arg484Leu) c.1526G>T (p.Arg509Leu) c.1505G>T (p.Arg502Leu) c.1613G>T (p.Arg538Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923511C>A | CA462118263 | PDP1 | c.1452C>A (p.Arg484=) c.1527C>A (p.Arg509=) c.1506C>A (p.Arg502=) c.1614C>A (p.Arg538=) | |
8 | g.93923511C>G | CA462118264 | PDP1 | c.1452C>G (p.Arg484=) c.1527C>G (p.Arg509=) c.1506C>G (p.Arg502=) c.1614C>G (p.Arg538=) | |
8 | g.93923511C>T | CA462118265 | PDP1 | c.1452C>T (p.Arg484=) c.1527C>T (p.Arg509=) c.1506C>T (p.Arg502=) c.1614C>T (p.Arg538=) | gnomAD v4 |
8 | g.93923511_93923525delinsCCACGCTGTGGGCAA | CA1803280980 | PDP1 | c.1452_1466delinsCCACGCTGTGGGCAA (p.Arg484=) c.1527_1541delinsCCACGCTGTGGGCAA (p.Arg509=) c.1506_1520delinsCCACGCTGTGGGCAA (p.Arg502=) c.1614_1628delinsCCACGCTGTGGGCAA (p.Arg538=) | |
8 | g.93923512C>A | CA371697436 | PDP1 | c.1453C>A (p.His485Asn) c.1528C>A (p.His510Asn) c.1507C>A (p.His503Asn) c.1615C>A (p.His539Asn) | |
8 | g.93923512C>G | CA371697439 | PDP1 | c.1453C>G (p.His485Asp) c.1528C>G (p.His510Asp) c.1507C>G (p.His503Asp) c.1615C>G (p.His539Asp) | |
8 | g.93923512C>T | CA371697442 | PDP1 | c.1453C>T (p.His485Tyr) c.1528C>T (p.His510Tyr) c.1507C>T (p.His503Tyr) c.1615C>T (p.His539Tyr) | |
8 | g.93923514_93923527del | CA4808834 | PDP1 | c.1455_1468del (p.His485GlnfsTer7) c.1530_1543del (p.His510GlnfsTer7) c.1509_1522del (p.His503GlnfsTer7) c.1617_1630del (p.His539GlnfsTer7) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923513A>C | CA371697448 | PDP1 | c.1454A>C (p.His485Pro) c.1529A>C (p.His510Pro) c.1508A>C (p.His503Pro) c.1616A>C (p.His539Pro) | |
8 | g.93923513A>G | CA371697456 | PDP1 | c.1454A>G (p.His485Arg) c.1529A>G (p.His510Arg) c.1508A>G (p.His503Arg) c.1616A>G (p.His539Arg) | gnomAD v4 |
8 | g.93923513A>T | CA371697460 | PDP1 | c.1454A>T (p.His485Leu) c.1529A>T (p.His510Leu) c.1508A>T (p.His503Leu) c.1616A>T (p.His539Leu) | |
8 | g.93923514C>A | CA371697465 | PDP1 | c.1455C>A (p.His485Gln) c.1530C>A (p.His510Gln) c.1509C>A (p.His503Gln) c.1617C>A (p.His539Gln) | |
8 | g.93923514C= | CA1803280981 | PDP1 | c.1455C= (p.His485=) c.1530C= (p.His510=) c.1509C= (p.His503=) c.1617C= (p.His539=) | |
8 | g.93923514C>G | CA371697466 | PDP1 | c.1455C>G (p.His485Gln) c.1530C>G (p.His510Gln) c.1509C>G (p.His503Gln) c.1617C>G (p.His539Gln) | |
8 | g.93923514C>T | CA4808835 | PDP1 | c.1455C>T (p.His485=) c.1530C>T (p.His510=) c.1509C>T (p.His503=) c.1617C>T (p.His539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923515G>A | CA371697467 | PDP1 | c.1456G>A (p.Ala486Thr) c.1531G>A (p.Ala511Thr) c.1510G>A (p.Ala504Thr) c.1618G>A (p.Ala540Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923515G>C | CA371697468 | PDP1 | c.1456G>C (p.Ala486Pro) c.1531G>C (p.Ala511Pro) c.1510G>C (p.Ala504Pro) c.1618G>C (p.Ala540Pro) | |
8 | g.93923515G= | CA1803280982 | PDP1 | c.1456G= (p.Ala486=) c.1531G= (p.Ala511=) c.1510G= (p.Ala504=) c.1618G= (p.Ala540=) | |
8 | g.93923515G>T | CA371697472 | PDP1 | c.1456G>T (p.Ala486Ser) c.1531G>T (p.Ala511Ser) c.1510G>T (p.Ala504Ser) c.1618G>T (p.Ala540Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923516C>A | CA371697475 | PDP1 | c.1457C>A (p.Ala486Asp) c.1532C>A (p.Ala511Asp) c.1511C>A (p.Ala504Asp) c.1619C>A (p.Ala540Asp) | |
8 | g.93923516C= | CA1803280983 | PDP1 | c.1457C= (p.Ala486=) c.1532C= (p.Ala511=) c.1511C= (p.Ala504=) c.1619C= (p.Ala540=) | |
8 | g.93923516C>G | CA181376319 | PDP1 | c.1457C>G (p.Ala486Gly) c.1532C>G (p.Ala511Gly) c.1511C>G (p.Ala504Gly) c.1619C>G (p.Ala540Gly) | dbSNP gnomAD v4 |
8 | g.93923516C>T | CA371697479 | PDP1 | c.1457C>T (p.Ala486Val) c.1532C>T (p.Ala511Val) c.1511C>T (p.Ala504Val) c.1619C>T (p.Ala540Val) | |
8 | g.93923517T>A | CA462118266 | PDP1 | c.1458T>A (p.Ala486=) c.1533T>A (p.Ala511=) c.1512T>A (p.Ala504=) c.1620T>A (p.Ala540=) | gnomAD v4 |
8 | g.93923517T>C | CA462118267 | PDP1 | c.1458T>C (p.Ala486=) c.1533T>C (p.Ala511=) c.1512T>C (p.Ala504=) c.1620T>C (p.Ala540=) | |
8 | g.93923517T>G | CA462118268 | PDP1 | c.1458T>G (p.Ala486=) c.1533T>G (p.Ala511=) c.1512T>G (p.Ala504=) c.1620T>G (p.Ala540=) | |
8 | g.93923518G>A | CA371697482 | PDP1 | c.1459G>A (p.Val487Met) c.1534G>A (p.Val512Met) c.1513G>A (p.Val505Met) c.1621G>A (p.Val541Met) | |
8 | g.93923518G>C | CA371697484 | PDP1 | c.1459G>C (p.Val487Leu) c.1534G>C (p.Val512Leu) c.1513G>C (p.Val505Leu) c.1621G>C (p.Val541Leu) | |
8 | g.93923518G>T | CA371697486 | PDP1 | c.1459G>T (p.Val487Leu) c.1534G>T (p.Val512Leu) c.1513G>T (p.Val505Leu) c.1621G>T (p.Val541Leu) | |
8 | g.93923519T>A | CA371697488 | PDP1 | c.1460T>A (p.Val487Glu) c.1535T>A (p.Val512Glu) c.1514T>A (p.Val505Glu) c.1622T>A (p.Val541Glu) | |
8 | g.93923519T>C | CA371697489 | PDP1 | c.1460T>C (p.Val487Ala) c.1535T>C (p.Val512Ala) c.1514T>C (p.Val505Ala) c.1622T>C (p.Val541Ala) | |
8 | g.93923519T>G | CA371697490 | PDP1 | c.1460T>G (p.Val487Gly) c.1535T>G (p.Val512Gly) c.1514T>G (p.Val505Gly) c.1622T>G (p.Val541Gly) | |
8 | g.93923520G>A | CA4808836 | PDP1 | c.1461G>A (p.Val487=) c.1536G>A (p.Val512=) c.1515G>A (p.Val505=) c.1623G>A (p.Val541=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923520G>C | CA462118269 | PDP1 | c.1461G>C (p.Val487=) c.1536G>C (p.Val512=) c.1515G>C (p.Val505=) c.1623G>C (p.Val541=) | |
8 | g.93923520G= | CA1803280984 | PDP1 | c.1461G= (p.Val487=) c.1536G= (p.Val512=) c.1515G= (p.Val505=) c.1623G= (p.Val541=) | |
8 | g.93923520G>T | CA462118270 | PDP1 | c.1461G>T (p.Val487=) c.1536G>T (p.Val512=) c.1515G>T (p.Val505=) c.1623G>T (p.Val541=) | |
8 | g.93923521G>A | CA371697498 | PDP1 | c.1462G>A (p.Gly488Ser) c.1537G>A (p.Gly513Ser) c.1516G>A (p.Gly506Ser) c.1624G>A (p.Gly542Ser) | |
8 | g.93923521G>C | CA371697494 | PDP1 | c.1462G>C (p.Gly488Arg) c.1537G>C (p.Gly513Arg) c.1516G>C (p.Gly506Arg) c.1624G>C (p.Gly542Arg) | |
8 | g.93923521G>T | CA371697495 | PDP1 | c.1462G>T (p.Gly488Cys) c.1537G>T (p.Gly513Cys) c.1516G>T (p.Gly506Cys) c.1624G>T (p.Gly542Cys) | |
8 | g.93923522G>A | CA371697500 | PDP1 | c.1463G>A (p.Gly488Asp) c.1538G>A (p.Gly513Asp) c.1517G>A (p.Gly506Asp) c.1625G>A (p.Gly542Asp) | dbSNP COSMIC COSMIC |
8 | g.93923522G>C | CA371697502 | PDP1 | c.1463G>C (p.Gly488Ala) c.1538G>C (p.Gly513Ala) c.1517G>C (p.Gly506Ala) c.1625G>C (p.Gly542Ala) | |
8 | g.93923522G>T | CA371697510 | PDP1 | c.1463G>T (p.Gly488Val) c.1538G>T (p.Gly513Val) c.1517G>T (p.Gly506Val) c.1625G>T (p.Gly542Val) | |
8 | g.93923523C>A | CA462118273 | PDP1 | c.1464C>A (p.Gly488=) c.1539C>A (p.Gly513=) c.1518C>A (p.Gly506=) c.1626C>A (p.Gly542=) | |
8 | g.93923523C= | CA1803280985 | PDP1 | c.1464C= (p.Gly488=) c.1539C= (p.Gly513=) c.1518C= (p.Gly506=) c.1626C= (p.Gly542=) | |
8 | g.93923523C>G | CA462118271 | PDP1 | c.1464C>G (p.Gly488=) c.1539C>G (p.Gly513=) c.1518C>G (p.Gly506=) c.1626C>G (p.Gly542=) | |
8 | g.93923523C>T | CA462118272 | PDP1 | c.1464C>T (p.Gly488=) c.1539C>T (p.Gly513=) c.1518C>T (p.Gly506=) c.1626C>T (p.Gly542=) | dbSNP gnomAD v4 |
8 | g.93923527_93923529del | CA2687927876 | PDP1 | c.1468_1470del (p.Asn490del) c.1543_1545del (p.Asn515del) c.1522_1524del (p.Asn508del) c.1630_1632del (p.Asn544del) | gnomAD v4 |
8 | g.93923524A>C | CA371697512 | PDP1 | c.1465A>C (p.Asn489His) c.1540A>C (p.Asn514His) c.1519A>C (p.Asn507His) c.1627A>C (p.Asn543His) | |
8 | g.93923524A>G | CA371697513 | PDP1 | c.1465A>G (p.Asn489Asp) c.1540A>G (p.Asn514Asp) c.1519A>G (p.Asn507Asp) c.1627A>G (p.Asn543Asp) | |
8 | g.93923524A>T | CA371697514 | PDP1 | c.1465A>T (p.Asn489Tyr) c.1540A>T (p.Asn514Tyr) c.1519A>T (p.Asn507Tyr) c.1627A>T (p.Asn543Tyr) | |
8 | g.93923524_93923525dup | CA2687927877 | PDP1 | c.1465_1466dup (p.Asn489LysfsTer?) c.1540_1541dup (p.Asn514LysfsTer?) c.1519_1520dup (p.Asn507LysfsTer?) c.1627_1628dup (p.Asn543LysfsTer?) | gnomAD v4 |
8 | g.93923525A= | CA1803280986 | PDP1 | c.1466A= (p.Asn489=) c.1541A= (p.Asn514=) c.1520A= (p.Asn507=) c.1628A= (p.Asn543=) | |
8 | g.93923525A>C | CA371697515 | PDP1 | c.1466A>C (p.Asn489Thr) c.1541A>C (p.Asn514Thr) c.1520A>C (p.Asn507Thr) c.1628A>C (p.Asn543Thr) | |
8 | g.93923525A>G | CA4808837 | PDP1 | c.1466A>G (p.Asn489Ser) c.1541A>G (p.Asn514Ser) c.1520A>G (p.Asn507Ser) c.1628A>G (p.Asn543Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923525A>T | CA371697517 | PDP1 | c.1466A>T (p.Asn489Ile) c.1541A>T (p.Asn514Ile) c.1520A>T (p.Asn507Ile) c.1628A>T (p.Asn543Ile) | |
8 | g.93923526C>A | CA371697519 | PDP1 | c.1467C>A (p.Asn489Lys) c.1542C>A (p.Asn514Lys) c.1521C>A (p.Asn507Lys) c.1629C>A (p.Asn543Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923526C= | CA1803280987 | PDP1 | c.1467C= (p.Asn489=) c.1542C= (p.Asn514=) c.1521C= (p.Asn507=) c.1629C= (p.Asn543=) | |
8 | g.93923526C>G | CA371697520 | PDP1 | c.1467C>G (p.Asn489Lys) c.1542C>G (p.Asn514Lys) c.1521C>G (p.Asn507Lys) c.1629C>G (p.Asn543Lys) | |
8 | g.93923526C>T | CA462118274 | PDP1 | c.1467C>T (p.Asn489=) c.1542C>T (p.Asn514=) c.1521C>T (p.Asn507=) c.1629C>T (p.Asn543=) | |
8 | g.93923527A>C | CA371697523 | PDP1 | c.1468A>C (p.Asn490His) c.1543A>C (p.Asn515His) c.1522A>C (p.Asn508His) c.1630A>C (p.Asn544His) | |
8 | g.93923527A>G | CA371697522 | PDP1 | c.1468A>G (p.Asn490Asp) c.1543A>G (p.Asn515Asp) c.1522A>G (p.Asn508Asp) c.1630A>G (p.Asn544Asp) | |
8 | g.93923527A>T | CA371697521 | PDP1 | c.1468A>T (p.Asn490Tyr) c.1543A>T (p.Asn515Tyr) c.1522A>T (p.Asn508Tyr) c.1630A>T (p.Asn544Tyr) | |
8 | g.93923528A>C | CA371697526 | PDP1 | c.1469A>C (p.Asn490Thr) c.1544A>C (p.Asn515Thr) c.1523A>C (p.Asn508Thr) c.1631A>C (p.Asn544Thr) | |
8 | g.93923528A>G | CA371697533 | PDP1 | c.1469A>G (p.Asn490Ser) c.1544A>G (p.Asn515Ser) c.1523A>G (p.Asn508Ser) c.1631A>G (p.Asn544Ser) | |
8 | g.93923528A>T | CA371697528 | PDP1 | c.1469A>T (p.Asn490Ile) c.1544A>T (p.Asn515Ile) c.1523A>T (p.Asn508Ile) c.1631A>T (p.Asn544Ile) | |
8 | g.93923529C>A | CA371697536 | PDP1 | c.1470C>A (p.Asn490Lys) c.1545C>A (p.Asn515Lys) c.1524C>A (p.Asn508Lys) c.1632C>A (p.Asn544Lys) | |
8 | g.93923529C= | CA1803280988 | PDP1 | c.1470C= (p.Asn490=) c.1545C= (p.Asn515=) c.1524C= (p.Asn508=) c.1632C= (p.Asn544=) | |
8 | g.93923529C>G | CA371697551 | PDP1 | c.1470C>G (p.Asn490Lys) c.1545C>G (p.Asn515Lys) c.1524C>G (p.Asn508Lys) c.1632C>G (p.Asn544Lys) | |
8 | g.93923529C>T | CA4808838 | PDP1 | c.1470C>T (p.Asn490=) c.1545C>T (p.Asn515=) c.1524C>T (p.Asn508=) c.1632C>T (p.Asn544=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923530G>A | CA371697559 | PDP1 | c.1471G>A (p.Glu491Lys) c.1546G>A (p.Glu516Lys) c.1525G>A (p.Glu509Lys) c.1633G>A (p.Glu545Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923530G>C | CA371697563 | PDP1 | c.1471G>C (p.Glu491Gln) c.1546G>C (p.Glu516Gln) c.1525G>C (p.Glu509Gln) c.1633G>C (p.Glu545Gln) | |
8 | g.93923530G= | CA1803280989 | PDP1 | c.1471G= (p.Glu491=) c.1546G= (p.Glu516=) c.1525G= (p.Glu509=) c.1633G= (p.Glu545=) | |
8 | g.93923530G>T | CA371697562 | PDP1 | c.1471G>T (p.Glu491Ter) c.1546G>T (p.Glu516Ter) c.1525G>T (p.Glu509Ter) c.1633G>T (p.Glu545Ter) | |
8 | g.93923531A>C | CA371697564 | PDP1 | c.1472A>C (p.Glu491Ala) c.1547A>C (p.Glu516Ala) c.1526A>C (p.Glu509Ala) c.1634A>C (p.Glu545Ala) | |
8 | g.93923531A>G | CA371697566 | PDP1 | c.1472A>G (p.Glu491Gly) c.1547A>G (p.Glu516Gly) c.1526A>G (p.Glu509Gly) c.1634A>G (p.Glu545Gly) | gnomAD v4 |
8 | g.93923531A>T | CA371697565 | PDP1 | c.1472A>T (p.Glu491Val) c.1547A>T (p.Glu516Val) c.1526A>T (p.Glu509Val) c.1634A>T (p.Glu545Val) | |
8 | g.93923532G>A | CA462118275 | PDP1 | c.1473G>A (p.Glu491=) c.1548G>A (p.Glu516=) c.1527G>A (p.Glu509=) c.1635G>A (p.Glu545=) | |
8 | g.93923532G>C | CA181376378 | PDP1 | c.1473G>C (p.Glu491Asp) c.1548G>C (p.Glu516Asp) c.1527G>C (p.Glu509Asp) c.1635G>C (p.Glu545Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923532G= | CA1803280990 | PDP1 | c.1473G= (p.Glu491=) c.1548G= (p.Glu516=) c.1527G= (p.Glu509=) c.1635G= (p.Glu545=) | |
8 | g.93923532G>T | CA371697571 | PDP1 | c.1473G>T (p.Glu491Asp) c.1548G>T (p.Glu516Asp) c.1527G>T (p.Glu509Asp) c.1635G>T (p.Glu545Asp) | |
8 | g.93923533T>A | CA371697578 | PDP1 | c.1474T>A (p.Phe492Ile) c.1549T>A (p.Phe517Ile) c.1528T>A (p.Phe510Ile) c.1636T>A (p.Phe546Ile) | |
8 | g.93923533T>C | CA371697580 | PDP1 | c.1474T>C (p.Phe492Leu) c.1549T>C (p.Phe517Leu) c.1528T>C (p.Phe510Leu) c.1636T>C (p.Phe546Leu) | |
8 | g.93923533T>G | CA371697579 | PDP1 | c.1474T>G (p.Phe492Val) c.1549T>G (p.Phe517Val) c.1528T>G (p.Phe510Val) c.1636T>G (p.Phe546Val) | |
8 | g.93923534T>A | CA371697583 | PDP1 | c.1475T>A (p.Phe492Tyr) c.1550T>A (p.Phe517Tyr) c.1529T>A (p.Phe510Tyr) c.1637T>A (p.Phe546Tyr) | |
8 | g.93923534T>C | CA371697585 | PDP1 | c.1475T>C (p.Phe492Ser) c.1550T>C (p.Phe517Ser) c.1529T>C (p.Phe510Ser) c.1637T>C (p.Phe546Ser) | gnomAD v4 |
8 | g.93923534T>G | CA371697587 | PDP1 | c.1475T>G (p.Phe492Cys) c.1550T>G (p.Phe517Cys) c.1529T>G (p.Phe510Cys) c.1637T>G (p.Phe546Cys) | |
8 | g.93923535T>A | CA371697590 | PDP1 | c.1476T>A (p.Phe492Leu) c.1551T>A (p.Phe517Leu) c.1530T>A (p.Phe510Leu) c.1638T>A (p.Phe546Leu) | dbSNP |
8 | g.93923535T>C | CA462118276 | PDP1 | c.1476T>C (p.Phe492=) c.1551T>C (p.Phe517=) c.1530T>C (p.Phe510=) c.1638T>C (p.Phe546=) | |
8 | g.93923535T>G | CA371697605 | PDP1 | c.1476T>G (p.Phe492Leu) c.1551T>G (p.Phe517Leu) c.1530T>G (p.Phe510Leu) c.1638T>G (p.Phe546Leu) | |
8 | g.93923535T= | CA1803280991 | PDP1 | c.1476T= (p.Phe492=) c.1551T= (p.Phe517=) c.1530T= (p.Phe510=) c.1638T= (p.Phe546=) | |
8 | g.93923536G>A | CA371697609 | PDP1 | c.1477G>A (p.Gly493Arg) c.1552G>A (p.Gly518Arg) c.1531G>A (p.Gly511Arg) c.1639G>A (p.Gly547Arg) | |
8 | g.93923536G>C | CA371697610 | PDP1 | c.1477G>C (p.Gly493Arg) c.1552G>C (p.Gly518Arg) c.1531G>C (p.Gly511Arg) c.1639G>C (p.Gly547Arg) | |
8 | g.93923536G>T | CA371697611 | PDP1 | c.1477G>T (p.Gly493Trp) c.1552G>T (p.Gly518Trp) c.1531G>T (p.Gly511Trp) c.1639G>T (p.Gly547Trp) | |
8 | g.93923537G>A | CA371697612 | PDP1 | c.1478G>A (p.Gly493Glu) c.1553G>A (p.Gly518Glu) c.1532G>A (p.Gly511Glu) c.1640G>A (p.Gly547Glu) | |
8 | g.93923537G>C | CA371697614 | PDP1 | c.1478G>C (p.Gly493Ala) c.1553G>C (p.Gly518Ala) c.1532G>C (p.Gly511Ala) c.1640G>C (p.Gly547Ala) | |
8 | g.93923537G>T | CA371697617 | PDP1 | c.1478G>T (p.Gly493Val) c.1553G>T (p.Gly518Val) c.1532G>T (p.Gly511Val) c.1640G>T (p.Gly547Val) | |
8 | g.93923538G>A | CA462118277 | PDP1 | c.1479G>A (p.Gly493=) c.1554G>A (p.Gly518=) c.1533G>A (p.Gly511=) c.1641G>A (p.Gly547=) | |
8 | g.93923538G>C | CA462118278 | PDP1 | c.1479G>C (p.Gly493=) c.1554G>C (p.Gly518=) c.1533G>C (p.Gly511=) c.1641G>C (p.Gly547=) | |
8 | g.93923538G>T | CA462118279 | PDP1 | c.1479G>T (p.Gly493=) c.1554G>T (p.Gly518=) c.1533G>T (p.Gly511=) c.1641G>T (p.Gly547=) | gnomAD v4 |
8 | g.93923539A>C | CA371697627 | PDP1 | c.1480A>C (p.Thr494Pro) c.1555A>C (p.Thr519Pro) c.1534A>C (p.Thr512Pro) c.1642A>C (p.Thr548Pro) | |
8 | g.93923539A>G | CA371697630 | PDP1 | c.1480A>G (p.Thr494Ala) c.1555A>G (p.Thr519Ala) c.1534A>G (p.Thr512Ala) c.1642A>G (p.Thr548Ala) | |
8 | g.93923539A>T | CA371697637 | PDP1 | c.1480A>T (p.Thr494Ser) c.1555A>T (p.Thr519Ser) c.1534A>T (p.Thr512Ser) c.1642A>T (p.Thr548Ser) | |
8 | g.93923540C>A | CA371697648 | PDP1 | c.1481C>A (p.Thr494Asn) c.1556C>A (p.Thr519Asn) c.1535C>A (p.Thr512Asn) c.1643C>A (p.Thr548Asn) | |
8 | g.93923540C= | CA1803280993 | PDP1 | c.1481C= (p.Thr494=) c.1556C= (p.Thr519=) c.1535C= (p.Thr512=) c.1643C= (p.Thr548=) | |
8 | g.93923540C>G | CA371697644 | PDP1 | c.1481C>G (p.Thr494Ser) c.1556C>G (p.Thr519Ser) c.1535C>G (p.Thr512Ser) c.1643C>G (p.Thr548Ser) | |
8 | g.93923540C>T | CA4808839 | PDP1 | c.1481C>T (p.Thr494Ile) c.1556C>T (p.Thr519Ile) c.1535C>T (p.Thr512Ile) c.1643C>T (p.Thr548Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923540_93923541delinsCT | CA1803280992 | PDP1 | c.1481_1482delinsCT (p.Thr494=) c.1556_1557delinsCT (p.Thr519=) c.1535_1536delinsCT (p.Thr512=) c.1643_1644delinsCT (p.Thr548=) | |
8 | g.93923541del | CA1116700124 | PDP1 | c.1482del (p.Val495LeufsTer28) c.1557del (p.Val520LeufsTer28) c.1536del (p.Val513LeufsTer28) c.1644del (p.Val549LeufsTer28) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923541T>A | CA462118280 | PDP1 | c.1482T>A (p.Thr494=) c.1557T>A (p.Thr519=) c.1536T>A (p.Thr512=) c.1644T>A (p.Thr548=) | |
8 | g.93923541T>C | CA462118281 | PDP1 | c.1482T>C (p.Thr494=) c.1557T>C (p.Thr519=) c.1536T>C (p.Thr512=) c.1644T>C (p.Thr548=) | |
8 | g.93923541T>G | CA462118282 | PDP1 | c.1482T>G (p.Thr494=) c.1557T>G (p.Thr519=) c.1536T>G (p.Thr512=) c.1644T>G (p.Thr548=) | gnomAD v4 |
8 | g.93923542G>A | CA371697652 | PDP1 | c.1483G>A (p.Val495Ile) c.1558G>A (p.Val520Ile) c.1537G>A (p.Val513Ile) c.1645G>A (p.Val549Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923542G>C | CA371697655 | PDP1 | c.1483G>C (p.Val495Leu) c.1558G>C (p.Val520Leu) c.1537G>C (p.Val513Leu) c.1645G>C (p.Val549Leu) | |
8 | g.93923542G= | CA1803280994 | PDP1 | c.1483G= (p.Val495=) c.1558G= (p.Val520=) c.1537G= (p.Val513=) c.1645G= (p.Val549=) | |
8 | g.93923542G>T | CA371697657 | PDP1 | c.1483G>T (p.Val495Phe) c.1558G>T (p.Val520Phe) c.1537G>T (p.Val513Phe) c.1645G>T (p.Val549Phe) | |
8 | g.93923543T>A | CA371697658 | PDP1 | c.1484T>A (p.Val495Asp) c.1559T>A (p.Val520Asp) c.1538T>A (p.Val513Asp) c.1646T>A (p.Val549Asp) | |
8 | g.93923543T>C | CA371697659 | PDP1 | c.1484T>C (p.Val495Ala) c.1559T>C (p.Val520Ala) c.1538T>C (p.Val513Ala) c.1646T>C (p.Val549Ala) | |
8 | g.93923543T>G | CA371697660 | PDP1 | c.1484T>G (p.Val495Gly) c.1559T>G (p.Val520Gly) c.1538T>G (p.Val513Gly) c.1646T>G (p.Val549Gly) | |
8 | g.93923544T>A | CA462118283 | PDP1 | c.1485T>A (p.Val495=) c.1560T>A (p.Val520=) c.1539T>A (p.Val513=) c.1647T>A (p.Val549=) | |
8 | g.93923544T>C | CA462118284 | PDP1 | c.1485T>C (p.Val495=) c.1560T>C (p.Val520=) c.1539T>C (p.Val513=) c.1647T>C (p.Val549=) | gnomAD v4 |
8 | g.93923544T>G | CA462118285 | PDP1 | c.1485T>G (p.Val495=) c.1560T>G (p.Val520=) c.1539T>G (p.Val513=) c.1647T>G (p.Val549=) | |
8 | g.93923545G>A | CA371697661 | PDP1 | c.1486G>A (p.Asp496Asn) c.1561G>A (p.Asp521Asn) c.1540G>A (p.Asp514Asn) c.1648G>A (p.Asp550Asn) | |
8 | g.93923545G>C | CA371697663 | PDP1 | c.1486G>C (p.Asp496His) c.1561G>C (p.Asp521His) c.1540G>C (p.Asp514His) c.1648G>C (p.Asp550His) | |
8 | g.93923545G>T | CA371697668 | PDP1 | c.1486G>T (p.Asp496Tyr) c.1561G>T (p.Asp521Tyr) c.1540G>T (p.Asp514Tyr) c.1648G>T (p.Asp550Tyr) | |
8 | g.93923546A>C | CA371697671 | PDP1 | c.1487A>C (p.Asp496Ala) c.1562A>C (p.Asp521Ala) c.1541A>C (p.Asp514Ala) c.1649A>C (p.Asp550Ala) | |
8 | g.93923546A>G | CA371697675 | PDP1 | c.1487A>G (p.Asp496Gly) c.1562A>G (p.Asp521Gly) c.1541A>G (p.Asp514Gly) c.1649A>G (p.Asp550Gly) | |
8 | g.93923546A>T | CA371697677 | PDP1 | c.1487A>T (p.Asp496Val) c.1562A>T (p.Asp521Val) c.1541A>T (p.Asp514Val) c.1649A>T (p.Asp550Val) | |
8 | g.93923547T>A | CA371697679 | PDP1 | c.1488T>A (p.Asp496Glu) c.1563T>A (p.Asp521Glu) c.1542T>A (p.Asp514Glu) c.1650T>A (p.Asp550Glu) | gnomAD v4 |
8 | g.93923547T>C | CA462118286 | PDP1 | c.1488T>C (p.Asp496=) c.1563T>C (p.Asp521=) c.1542T>C (p.Asp514=) c.1650T>C (p.Asp550=) | |
8 | g.93923547T>G | CA371697681 | PDP1 | c.1488T>G (p.Asp496Glu) c.1563T>G (p.Asp521Glu) c.1542T>G (p.Asp514Glu) c.1650T>G (p.Asp550Glu) | |
8 | g.93923548C>A | CA371697683 | PDP1 | c.1489C>A (p.His497Asn) c.1564C>A (p.His522Asn) c.1543C>A (p.His515Asn) c.1651C>A (p.His551Asn) | |
8 | g.93923548C= | CA1803280995 | PDP1 | c.1489C= (p.His497=) c.1564C= (p.His522=) c.1543C= (p.His515=) c.1651C= (p.His551=) | |
8 | g.93923548C>G | CA371697684 | PDP1 | c.1489C>G (p.His497Asp) c.1564C>G (p.His522Asp) c.1543C>G (p.His515Asp) c.1651C>G (p.His551Asp) | |
8 | g.93923548C>T | CA371697682 | PDP1 | c.1489C>T (p.His497Tyr) c.1564C>T (p.His522Tyr) c.1543C>T (p.His515Tyr) c.1651C>T (p.His551Tyr) | dbSNP |
8 | g.93923549A>C | CA371697685 | PDP1 | c.1490A>C (p.His497Pro) c.1565A>C (p.His522Pro) c.1544A>C (p.His515Pro) c.1652A>C (p.His551Pro) | |
8 | g.93923549A>G | CA371697686 | PDP1 | c.1490A>G (p.His497Arg) c.1565A>G (p.His522Arg) c.1544A>G (p.His515Arg) c.1652A>G (p.His551Arg) | |
8 | g.93923549A>T | CA371697688 | PDP1 | c.1490A>T (p.His497Leu) c.1565A>T (p.His522Leu) c.1544A>T (p.His515Leu) c.1652A>T (p.His551Leu) | |
8 | g.93923550T>A | CA371697690 | PDP1 | c.1491T>A (p.His497Gln) c.1566T>A (p.His522Gln) c.1545T>A (p.His515Gln) c.1653T>A (p.His551Gln) | |
8 | g.93923550T>C | CA462118287 | PDP1 | c.1491T>C (p.His497=) c.1566T>C (p.His522=) c.1545T>C (p.His515=) c.1653T>C (p.His551=) | |
8 | g.93923550T>G | CA371697697 | PDP1 | c.1491T>G (p.His497Gln) c.1566T>G (p.His522Gln) c.1545T>G (p.His515Gln) c.1653T>G (p.His551Gln) | |
8 | g.93923551G>A | CA371697700 | PDP1 | c.1492G>A (p.Glu498Lys) c.1567G>A (p.Glu523Lys) c.1546G>A (p.Glu516Lys) c.1654G>A (p.Glu552Lys) | |
8 | g.93923551G>C | CA371697706 | PDP1 | c.1492G>C (p.Glu498Gln) c.1567G>C (p.Glu523Gln) c.1546G>C (p.Glu516Gln) c.1654G>C (p.Glu552Gln) | |
8 | g.93923551G>T | CA371697709 | PDP1 | c.1492G>T (p.Glu498Ter) c.1567G>T (p.Glu523Ter) c.1546G>T (p.Glu516Ter) c.1654G>T (p.Glu552Ter) | |
8 | g.93923552A= | CA1803280996 | PDP1 | c.1493A= (p.Glu498=) c.1568A= (p.Glu523=) c.1547A= (p.Glu516=) c.1655A= (p.Glu552=) | |
8 | g.93923552A>C | CA371697711 | PDP1 | c.1493A>C (p.Glu498Ala) c.1568A>C (p.Glu523Ala) c.1547A>C (p.Glu516Ala) c.1655A>C (p.Glu552Ala) | |
8 | g.93923552A>G | CA371697713 | PDP1 | c.1493A>G (p.Glu498Gly) c.1568A>G (p.Glu523Gly) c.1547A>G (p.Glu516Gly) c.1655A>G (p.Glu552Gly) | dbSNP gnomAD v2 |
8 | g.93923552A>T | CA371697715 | PDP1 | c.1493A>T (p.Glu498Val) c.1568A>T (p.Glu523Val) c.1547A>T (p.Glu516Val) c.1655A>T (p.Glu552Val) | |
8 | g.93923553G>A | CA462118288 | PDP1 | c.1494G>A (p.Glu498=) c.1569G>A (p.Glu523=) c.1548G>A (p.Glu516=) c.1656G>A (p.Glu552=) | dbSNP |
8 | g.93923553G>C | CA371697716 | PDP1 | c.1494G>C (p.Glu498Asp) c.1569G>C (p.Glu523Asp) c.1548G>C (p.Glu516Asp) c.1656G>C (p.Glu552Asp) | |
8 | g.93923553G= | CA1803280997 | PDP1 | c.1494G= (p.Glu498=) c.1569G= (p.Glu523=) c.1548G= (p.Glu516=) c.1656G= (p.Glu552=) | |
8 | g.93923553G>T | CA371697720 | PDP1 | c.1494G>T (p.Glu498Asp) c.1569G>T (p.Glu523Asp) c.1548G>T (p.Glu516Asp) c.1656G>T (p.Glu552Asp) | |
8 | g.93923554C>A | CA371697724 | PDP1 | c.1495C>A (p.Arg499Ser) c.1570C>A (p.Arg524Ser) c.1549C>A (p.Arg517Ser) c.1657C>A (p.Arg553Ser) | |
8 | g.93923554C= | CA1803280998 | PDP1 | c.1495C= (p.Arg499=) c.1570C= (p.Arg524=) c.1549C= (p.Arg517=) c.1657C= (p.Arg553=) | |
8 | g.93923554C>G | CA371697722 | PDP1 | c.1495C>G (p.Arg499Gly) c.1570C>G (p.Arg524Gly) c.1549C>G (p.Arg517Gly) c.1657C>G (p.Arg553Gly) | |
8 | g.93923554C>T | CA4808840 | PDP1 | c.1495C>T (p.Arg499Cys) c.1570C>T (p.Arg524Cys) c.1549C>T (p.Arg517Cys) c.1657C>T (p.Arg553Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923555G>A | CA4808841 | PDP1 | c.1496G>A (p.Arg499His) c.1571G>A (p.Arg524His) c.1550G>A (p.Arg517His) c.1658G>A (p.Arg553His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.93923555G>C | CA371697725 | PDP1 | c.1496G>C (p.Arg499Pro) c.1571G>C (p.Arg524Pro) c.1550G>C (p.Arg517Pro) c.1658G>C (p.Arg553Pro) | |
8 | g.93923555G= | CA1803280999 | PDP1 | c.1496G= (p.Arg499=) c.1571G= (p.Arg524=) c.1550G= (p.Arg517=) c.1658G= (p.Arg553=) | |
8 | g.93923555G>T | CA371697726 | PDP1 | c.1496G>T (p.Arg499Leu) c.1571G>T (p.Arg524Leu) c.1550G>T (p.Arg517Leu) c.1658G>T (p.Arg553Leu) | |
8 | g.93923556C>A | CA462118289 | PDP1 | c.1497C>A (p.Arg499=) c.1572C>A (p.Arg524=) c.1551C>A (p.Arg517=) c.1659C>A (p.Arg553=) | |
8 | g.93923556C>G | CA462118291 | PDP1 | c.1497C>G (p.Arg499=) c.1572C>G (p.Arg524=) c.1551C>G (p.Arg517=) c.1659C>G (p.Arg553=) | |
8 | g.93923556C>T | CA462118290 | PDP1 | c.1497C>T (p.Arg499=) c.1572C>T (p.Arg524=) c.1551C>T (p.Arg517=) c.1659C>T (p.Arg553=) | |
8 | g.93923557C>A | CA371697727 | PDP1 | c.1498C>A (p.Leu500Ile) c.1573C>A (p.Leu525Ile) c.1552C>A (p.Leu518Ile) c.1660C>A (p.Leu554Ile) | |
8 | g.93923557C>G | CA371697728 | PDP1 | c.1498C>G (p.Leu500Val) c.1573C>G (p.Leu525Val) c.1552C>G (p.Leu518Val) c.1660C>G (p.Leu554Val) | |
8 | g.93923557C>T | CA371697731 | PDP1 | c.1498C>T (p.Leu500Phe) c.1573C>T (p.Leu525Phe) c.1552C>T (p.Leu518Phe) c.1660C>T (p.Leu554Phe) | gnomAD v4 |
8 | g.93923561_93923562del | CA2687927879 | PDP1 | c.1502_1503del (p.Ser501Ter) c.1577_1578del (p.Ser526Ter) c.1556_1557del (p.Ser519Ter) c.1664_1665del (p.Ser555Ter) | gnomAD v4 |
8 | g.93923558T>A | CA371697733 | PDP1 | c.1499T>A (p.Leu500His) c.1574T>A (p.Leu525His) c.1553T>A (p.Leu518His) c.1661T>A (p.Leu554His) | |
8 | g.93923558T>C | CA371697734 | PDP1 | c.1499T>C (p.Leu500Pro) c.1574T>C (p.Leu525Pro) c.1553T>C (p.Leu518Pro) c.1661T>C (p.Leu554Pro) | |
8 | g.93923558T>G | CA371697736 | PDP1 | c.1499T>G (p.Leu500Arg) c.1574T>G (p.Leu525Arg) c.1553T>G (p.Leu518Arg) c.1661T>G (p.Leu554Arg) | |
8 | g.93923559C>A | CA462118292 | PDP1 | c.1500C>A (p.Leu500=) c.1575C>A (p.Leu525=) c.1554C>A (p.Leu518=) c.1662C>A (p.Leu554=) | |
8 | g.93923559C= | CA1803281000 | PDP1 | c.1500C= (p.Leu500=) c.1575C= (p.Leu525=) c.1554C= (p.Leu518=) c.1662C= (p.Leu554=) | |
8 | g.93923559C>G | CA462118293 | PDP1 | c.1500C>G (p.Leu500=) c.1575C>G (p.Leu525=) c.1554C>G (p.Leu518=) c.1662C>G (p.Leu554=) | |
8 | g.93923559C>T | CA462118294 | PDP1 | c.1500C>T (p.Leu500=) c.1575C>T (p.Leu525=) c.1554C>T (p.Leu518=) c.1662C>T (p.Leu554=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923560T>A | CA371697737 | PDP1 | c.1501T>A (p.Ser501Thr) c.1576T>A (p.Ser526Thr) c.1555T>A (p.Ser519Thr) c.1663T>A (p.Ser555Thr) | |
8 | g.93923560T>C | CA371697740 | PDP1 | c.1501T>C (p.Ser501Pro) c.1576T>C (p.Ser526Pro) c.1555T>C (p.Ser519Pro) c.1663T>C (p.Ser555Pro) | |
8 | g.93923560T>G | CA371697745 | PDP1 | c.1501T>G (p.Ser501Ala) c.1576T>G (p.Ser526Ala) c.1555T>G (p.Ser519Ala) c.1663T>G (p.Ser555Ala) | |
8 | g.93923561C>A | CA371697750 | PDP1 | c.1502C>A (p.Ser501Tyr) c.1577C>A (p.Ser526Tyr) c.1556C>A (p.Ser519Tyr) c.1664C>A (p.Ser555Tyr) | |
8 | g.93923561C= | CA1803281001 | PDP1 | c.1502C= (p.Ser501=) c.1577C= (p.Ser526=) c.1556C= (p.Ser519=) c.1664C= (p.Ser555=) | |
8 | g.93923561C>G | CA4808842 | PDP1 | c.1502C>G (p.Ser501Cys) c.1577C>G (p.Ser526Cys) c.1556C>G (p.Ser519Cys) c.1664C>G (p.Ser555Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923561C>T | CA371697748 | PDP1 | c.1502C>T (p.Ser501Phe) c.1577C>T (p.Ser526Phe) c.1556C>T (p.Ser519Phe) c.1664C>T (p.Ser555Phe) | |
8 | g.93923561dup | CA2740962484 | PDP1 | c.1502dup (p.Lys502Ter) c.1577dup (p.Lys527Ter) c.1556dup (p.Lys520Ter) c.1664dup (p.Lys556Ter) | |
8 | g.93923562T>A | CA462118296 | PDP1 | c.1503T>A (p.Ser501=) c.1578T>A (p.Ser526=) c.1557T>A (p.Ser519=) c.1665T>A (p.Ser555=) | |
8 | g.93923562T>C | CA4808843 | PDP1 | c.1503T>C (p.Ser501=) c.1578T>C (p.Ser526=) c.1557T>C (p.Ser519=) c.1665T>C (p.Ser555=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923562T>G | CA462118298 | PDP1 | c.1503T>G (p.Ser501=) c.1578T>G (p.Ser526=) c.1557T>G (p.Ser519=) c.1665T>G (p.Ser555=) | |
8 | g.93923562T= | CA1803281002 | PDP1 | c.1503T= (p.Ser501=) c.1578T= (p.Ser526=) c.1557T= (p.Ser519=) c.1665T= (p.Ser555=) | |
8 | g.93923562_93923563insCCTCC | CA2740962485 | PDP1 | c.1503_1504insCCTCC (p.Lys502ProfsTer23) c.1578_1579insCCTCC (p.Lys527ProfsTer23) c.1557_1558insCCTCC (p.Lys520ProfsTer23) c.1665_1666insCCTCC (p.Lys556ProfsTer23) | |
8 | g.93923563A= | CA1803281003 | PDP1 | c.1504A= (p.Lys502=) c.1579A= (p.Lys527=) c.1558A= (p.Lys520=) c.1666A= (p.Lys556=) | |
8 | g.93923563A>C | CA371697762 | PDP1 | c.1504A>C (p.Lys502Gln) c.1579A>C (p.Lys527Gln) c.1558A>C (p.Lys520Gln) c.1666A>C (p.Lys556Gln) | |
8 | g.93923563A>G | CA181376413 | PDP1 | c.1504A>G (p.Lys502Glu) c.1579A>G (p.Lys527Glu) c.1558A>G (p.Lys520Glu) c.1666A>G (p.Lys556Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923563A>T | CA371697760 | PDP1 | c.1504A>T (p.Lys502Ter) c.1579A>T (p.Lys527Ter) c.1558A>T (p.Lys520Ter) c.1666A>T (p.Lys556Ter) | |
8 | g.93923564A>C | CA371697765 | PDP1 | c.1505A>C (p.Lys502Thr) c.1580A>C (p.Lys527Thr) c.1559A>C (p.Lys520Thr) c.1667A>C (p.Lys556Thr) | |
8 | g.93923564A>G | CA371697769 | PDP1 | c.1505A>G (p.Lys502Arg) c.1580A>G (p.Lys527Arg) c.1559A>G (p.Lys520Arg) c.1667A>G (p.Lys556Arg) | |
8 | g.93923564A>T | CA371697771 | PDP1 | c.1505A>T (p.Lys502Ile) c.1580A>T (p.Lys527Ile) c.1559A>T (p.Lys520Ile) c.1667A>T (p.Lys556Ile) | |
8 | g.93923565A>C | CA371697773 | PDP1 | c.1506A>C (p.Lys502Asn) c.1581A>C (p.Lys527Asn) c.1560A>C (p.Lys520Asn) c.1668A>C (p.Lys556Asn) | |
8 | g.93923565A>G | CA462118299 | PDP1 | c.1506A>G (p.Lys502=) c.1581A>G (p.Lys527=) c.1560A>G (p.Lys520=) c.1668A>G (p.Lys556=) | |
8 | g.93923565A>T | CA371697774 | PDP1 | c.1506A>T (p.Lys502Asn) c.1581A>T (p.Lys527Asn) c.1560A>T (p.Lys520Asn) c.1668A>T (p.Lys556Asn) | |
8 | g.93923565_93923566insGGAATGAAGTTCCTTGCCAGCAATGGAACAAAGCTGGATGGAGA | CA2740962486 | PDP1 | c.1506_1507insGGAATGAAGTTCCTTGCCAGCAATGGAACAAAGCTGGATGGAGA (p.Met503GlyfsTer35) c.1581_1582insGGAATGAAGTTCCTTGCCAGCAATGGAACAAAGCTGGATGGAGA (p.Met528GlyfsTer35) c.1560_1561insGGAATGAAGTTCCTTGCCAGCAATGGAACAAAGCTGGATGGAGA (p.Met521GlyfsTer35) c.1668_1669insGGAATGAAGTTCCTTGCCAGCAATGGAACAAAGCTGGATGGAGA (p.Met557GlyfsTer35) | |
8 | g.93923566A= | CA1803281004 | PDP1 | c.1507A= (p.Met503=) c.1582A= (p.Met528=) c.1561A= (p.Met521=) c.1669A= (p.Met557=) | |
8 | g.93923566A>C | CA371697776 | PDP1 | c.1507A>C (p.Met503Leu) c.1582A>C (p.Met528Leu) c.1561A>C (p.Met521Leu) c.1669A>C (p.Met557Leu) | gnomAD v4 |
8 | g.93923566A>G | CA371697778 | PDP1 | c.1507A>G (p.Met503Val) c.1582A>G (p.Met528Val) c.1561A>G (p.Met521Val) c.1669A>G (p.Met557Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923566A>T | CA371697780 | PDP1 | c.1507A>T (p.Met503Leu) c.1582A>T (p.Met528Leu) c.1561A>T (p.Met521Leu) c.1669A>T (p.Met557Leu) | |
8 | g.93923567T>A | CA371697781 | PDP1 | c.1508T>A (p.Met503Lys) c.1583T>A (p.Met528Lys) c.1562T>A (p.Met521Lys) c.1670T>A (p.Met557Lys) | |
8 | g.93923567T>C | CA371697782 | PDP1 | c.1508T>C (p.Met503Thr) c.1583T>C (p.Met528Thr) c.1562T>C (p.Met521Thr) c.1670T>C (p.Met557Thr) | |
8 | g.93923567T>G | CA371697783 | PDP1 | c.1508T>G (p.Met503Arg) c.1583T>G (p.Met528Arg) c.1562T>G (p.Met521Arg) c.1670T>G (p.Met557Arg) | |
8 | g.93923568G>A | CA371697787 | PDP1 | c.1509G>A (p.Met503Ile) c.1584G>A (p.Met528Ile) c.1563G>A (p.Met521Ile) c.1671G>A (p.Met557Ile) | |
8 | g.93923568G>C | CA371697785 | PDP1 | c.1509G>C (p.Met503Ile) c.1584G>C (p.Met528Ile) c.1563G>C (p.Met521Ile) c.1671G>C (p.Met557Ile) | |
8 | g.93923568G>T | CA371697786 | PDP1 | c.1509G>T (p.Met503Ile) c.1584G>T (p.Met528Ile) c.1563G>T (p.Met521Ile) c.1671G>T (p.Met557Ile) | gnomAD v4 COSMIC COSMIC |
8 | g.93923569C>A | CA371697789 | PDP1 | c.1510C>A (p.Leu504Ile) c.1585C>A (p.Leu529Ile) c.1564C>A (p.Leu522Ile) c.1672C>A (p.Leu558Ile) | |
8 | g.93923569C= | CA1803281005 | PDP1 | c.1510C= (p.Leu504=) c.1585C= (p.Leu529=) c.1564C= (p.Leu522=) c.1672C= (p.Leu558=) | |
8 | g.93923569C>G | CA371697790 | PDP1 | c.1510C>G (p.Leu504Val) c.1585C>G (p.Leu529Val) c.1564C>G (p.Leu522Val) c.1672C>G (p.Leu558Val) | |
8 | g.93923569C>T | CA371697792 | PDP1 | c.1510C>T (p.Leu504Phe) c.1585C>T (p.Leu529Phe) c.1564C>T (p.Leu522Phe) c.1672C>T (p.Leu558Phe) | dbSNP gnomAD v4 |
8 | g.93923570T>A | CA371697794 | PDP1 | c.1511T>A (p.Leu504His) c.1586T>A (p.Leu529His) c.1565T>A (p.Leu522His) c.1673T>A (p.Leu558His) | |
8 | g.93923570T>C | CA371697795 | PDP1 | c.1511T>C (p.Leu504Pro) c.1586T>C (p.Leu529Pro) c.1565T>C (p.Leu522Pro) c.1673T>C (p.Leu558Pro) | |
8 | g.93923570T>G | CA371697796 | PDP1 | c.1511T>G (p.Leu504Arg) c.1586T>G (p.Leu529Arg) c.1565T>G (p.Leu522Arg) c.1673T>G (p.Leu558Arg) | |
8 | g.93923571T>A | CA462118304 | PDP1 | c.1512T>A (p.Leu504=) c.1587T>A (p.Leu529=) c.1566T>A (p.Leu522=) c.1674T>A (p.Leu558=) | |
8 | g.93923571T>C | CA462118305 | PDP1 | c.1512T>C (p.Leu504=) c.1587T>C (p.Leu529=) c.1566T>C (p.Leu522=) c.1674T>C (p.Leu558=) | |
8 | g.93923571T>G | CA462118307 | PDP1 | c.1512T>G (p.Leu504=) c.1587T>G (p.Leu529=) c.1566T>G (p.Leu522=) c.1674T>G (p.Leu558=) | |
8 | g.93923572A= | CA1803281006 | PDP1 | c.1513A= (p.Ser505=) c.1588A= (p.Ser530=) c.1567A= (p.Ser523=) c.1675A= (p.Ser559=) | |
8 | g.93923572A>C | CA371697798 | PDP1 | c.1513A>C (p.Ser505Arg) c.1588A>C (p.Ser530Arg) c.1567A>C (p.Ser523Arg) c.1675A>C (p.Ser559Arg) | |
8 | g.93923572A>G | CA371697800 | PDP1 | c.1513A>G (p.Ser505Gly) c.1588A>G (p.Ser530Gly) c.1567A>G (p.Ser523Gly) c.1675A>G (p.Ser559Gly) | dbSNP |
8 | g.93923572A>T | CA371697801 | PDP1 | c.1513A>T (p.Ser505Cys) c.1588A>T (p.Ser530Cys) c.1567A>T (p.Ser523Cys) c.1675A>T (p.Ser559Cys) | |
8 | g.93923573G>A | CA371697803 | PDP1 | c.1514G>A (p.Ser505Asn) c.1589G>A (p.Ser530Asn) c.1568G>A (p.Ser523Asn) c.1676G>A (p.Ser559Asn) | |
8 | g.93923573G>C | CA371697804 | PDP1 | c.1514G>C (p.Ser505Thr) c.1589G>C (p.Ser530Thr) c.1568G>C (p.Ser523Thr) c.1676G>C (p.Ser559Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923573G= | CA1803281007 | PDP1 | c.1514G= (p.Ser505=) c.1589G= (p.Ser530=) c.1568G= (p.Ser523=) c.1676G= (p.Ser559=) | |
8 | g.93923573G>T | CA371697806 | PDP1 | c.1514G>T (p.Ser505Ile) c.1589G>T (p.Ser530Ile) c.1568G>T (p.Ser523Ile) c.1676G>T (p.Ser559Ile) | |
8 | g.93923574T>A | CA371697808 | PDP1 | c.1515T>A (p.Ser505Arg) c.1590T>A (p.Ser530Arg) c.1569T>A (p.Ser523Arg) c.1677T>A (p.Ser559Arg) | |
8 | g.93923574T>C | CA462118309 | PDP1 | c.1515T>C (p.Ser505=) c.1590T>C (p.Ser530=) c.1569T>C (p.Ser523=) c.1677T>C (p.Ser559=) | |
8 | g.93923574T>G | CA371697807 | PDP1 | c.1515T>G (p.Ser505Arg) c.1590T>G (p.Ser530Arg) c.1569T>G (p.Ser523Arg) c.1677T>G (p.Ser559Arg) | |
8 | g.93923575C>A | CA371697809 | PDP1 | c.1516C>A (p.Leu506Ile) c.1591C>A (p.Leu531Ile) c.1570C>A (p.Leu524Ile) c.1678C>A (p.Leu560Ile) | |
8 | g.93923575C>G | CA371697811 | PDP1 | c.1516C>G (p.Leu506Val) c.1591C>G (p.Leu531Val) c.1570C>G (p.Leu524Val) c.1678C>G (p.Leu560Val) | |
8 | g.93923575C>T | CA371697812 | PDP1 | c.1516C>T (p.Leu506Phe) c.1591C>T (p.Leu531Phe) c.1570C>T (p.Leu524Phe) c.1678C>T (p.Leu560Phe) | |
8 | g.93923576T>A | CA371697813 | PDP1 | c.1517T>A (p.Leu506His) c.1592T>A (p.Leu531His) c.1571T>A (p.Leu524His) c.1679T>A (p.Leu560His) | |
8 | g.93923576T>C | CA371697814 | PDP1 | c.1517T>C (p.Leu506Pro) c.1592T>C (p.Leu531Pro) c.1571T>C (p.Leu524Pro) c.1679T>C (p.Leu560Pro) | |
8 | g.93923576T>G | CA371697816 | PDP1 | c.1517T>G (p.Leu506Arg) c.1592T>G (p.Leu531Arg) c.1571T>G (p.Leu524Arg) c.1679T>G (p.Leu560Arg) |