Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.160731115G>ACA4087747PLGc.274G>A (p.Asp92Asn)
c.1372G>A (p.Asp458Asn)
c.1321G>A (p.Asp441Asn)
n.319G>A
n.376G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.160731115G>CCA366363659PLGc.274G>C (p.Asp92His)
c.1372G>C (p.Asp458His)
c.1321G>C (p.Asp441His)
n.319G>C
n.376G>C
6g.160731115G=CA1677201343PLGc.274G= (p.Asp92=)
c.1372G= (p.Asp458=)
c.1321G= (p.Asp441=)
n.319G=
n.376G=
6g.160731115G>TCA366363660PLGc.274G>T (p.Asp92Tyr)
c.1372G>T (p.Asp458Tyr)
c.1321G>T (p.Asp441Tyr)
n.319G>T
n.376G>T
6g.160731116A>CCA366363661PLGc.275A>C (p.Asp92Ala)
c.1373A>C (p.Asp458Ala)
c.1322A>C (p.Asp441Ala)
n.320A>C
n.377A>C
6g.160731116A>GCA366363662PLGc.275A>G (p.Asp92Gly)
c.1373A>G (p.Asp458Gly)
c.1322A>G (p.Asp441Gly)
n.320A>G
n.377A>G
6g.160731116A>TCA366363663PLGc.275A>T (p.Asp92Val)
c.1373A>T (p.Asp458Val)
c.1322A>T (p.Asp441Val)
n.320A>T
n.377A>T
6g.160731117C>ACA366363664PLGc.276C>A (p.Asp92Glu)
c.1374C>A (p.Asp458Glu)
c.1323C>A (p.Asp441Glu)
n.321C>A
n.378C>A
 gnomAD v4
6g.160731117C>GCA366363665PLGc.276C>G (p.Asp92Glu)
c.1374C>G (p.Asp458Glu)
c.1323C>G (p.Asp441Glu)
n.321C>G
n.378C>G
6g.160731117C>TCA453028188PLGc.276C>T (p.Asp92=)
c.1374C>T (p.Asp458=)
c.1323C>T (p.Asp441=)
n.321C>T
n.378C>T
 gnomAD v4
6g.160731118C>ACA366363668PLGc.277C>A (p.Pro93Thr)
c.1375C>A (p.Pro459Thr)
c.1324C>A (p.Pro442Thr)
n.322C>A
n.379C>A
 COSMIC
6g.160731118C=CA1677201344PLGc.277C= (p.Pro93=)
c.1375C= (p.Pro459=)
c.1324C= (p.Pro442=)
n.322C=
n.379C=
6g.160731118C>GCA366363666PLGc.277C>G (p.Pro93Ala)
c.1375C>G (p.Pro459Ala)
c.1324C>G (p.Pro442Ala)
n.322C>G
n.379C>G
6g.160731118C>TCA366363667PLGc.277C>T (p.Pro93Ser)
c.1375C>T (p.Pro459Ser)
c.1324C>T (p.Pro442Ser)
n.322C>T
n.379C>T
 dbSNP
6g.160731119C>ACA366363669PLGc.278C>A (p.Pro93His)
c.1376C>A (p.Pro459His)
c.1325C>A (p.Pro442His)
n.323C>A
n.380C>A
 dbSNP gnomAD v2 gnomAD v4
6g.160731119C=CA1677201345PLGc.278C= (p.Pro93=)
c.1376C= (p.Pro459=)
c.1325C= (p.Pro442=)
n.323C=
n.380C=
6g.160731119C>GCA366363670PLGc.278C>G (p.Pro93Arg)
c.1376C>G (p.Pro459Arg)
c.1325C>G (p.Pro442Arg)
n.323C>G
n.380C>G
6g.160731119C>TCA366363671PLGc.278C>T (p.Pro93Leu)
c.1376C>T (p.Pro459Leu)
c.1325C>T (p.Pro442Leu)
n.323C>T
n.380C>T
6g.160731120C>ACA453028190PLGc.279C>A (p.Pro93=)
c.1377C>A (p.Pro459=)
c.1326C>A (p.Pro442=)
n.324C>A
n.381C>A
6g.160731120C>GCA453028191PLGc.279C>G (p.Pro93=)
c.1377C>G (p.Pro459=)
c.1326C>G (p.Pro442=)
n.324C>G
n.381C>G
6g.160731120C>TCA453028192PLGc.279C>T (p.Pro93=)
c.1377C>T (p.Pro459=)
c.1326C>T (p.Pro442=)
n.324C>T
n.381C>T
6g.160731121A=CA1677201346PLGc.280A= (p.Ser94=)
c.1378A= (p.Ser460=)
c.1327A= (p.Ser443=)
n.325A=
n.382A=
6g.160731121A>CCA366363672PLGc.280A>C (p.Ser94Arg)
c.1378A>C (p.Ser460Arg)
c.1327A>C (p.Ser443Arg)
n.325A>C
n.382A>C
6g.160731121A>GCA366363673PLGc.280A>G (p.Ser94Gly)
c.1378A>G (p.Ser460Gly)
c.1327A>G (p.Ser443Gly)
n.325A>G
n.382A>G
 dbSNP gnomAD v3 gnomAD v4
6g.160731121A>TCA366363674PLGc.280A>T (p.Ser94Cys)
c.1378A>T (p.Ser460Cys)
c.1327A>T (p.Ser443Cys)
n.325A>T
n.382A>T
 gnomAD v4
6g.160731122G>ACA4087748PLGc.281G>A (p.Ser94Asn)
c.1379G>A (p.Ser460Asn)
c.1328G>A (p.Ser443Asn)
n.326G>A
n.383G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160731122G>CCA366363675PLGc.281G>C (p.Ser94Thr)
c.1379G>C (p.Ser460Thr)
c.1328G>C (p.Ser443Thr)
n.326G>C
n.383G>C
6g.160731122G=CA1677201347PLGc.281G= (p.Ser94=)
c.1379G= (p.Ser460=)
c.1328G= (p.Ser443=)
n.326G=
n.383G=
6g.160731122G>TCA366363676PLGc.281G>T (p.Ser94Ile)
c.1379G>T (p.Ser460Ile)
c.1328G>T (p.Ser443Ile)
n.326G>T
n.383G>T
6g.160731123C>ACA4087750PLGc.282C>A (p.Ser94Arg)
c.1380C>A (p.Ser460Arg)
c.1329C>A (p.Ser443Arg)
n.327C>A
n.384C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731123C=CA1677201348PLGc.282C= (p.Ser94=)
c.1380C= (p.Ser460=)
c.1329C= (p.Ser443=)
n.327C=
n.384C=
6g.160731123C>GCA366363677PLGc.282C>G (p.Ser94Arg)
c.1380C>G (p.Ser460Arg)
c.1329C>G (p.Ser443Arg)
n.327C>G
n.384C>G
6g.160731123C>TCA4087749PLGc.282C>T (p.Ser94=)
c.1380C>T (p.Ser460=)
c.1329C>T (p.Ser443=)
n.327C>T
n.384C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731124G>ACA4087751PLGc.283G>A (p.Val95Ile)
c.1381G>A (p.Val461Ile)
c.1330G>A (p.Val444Ile)
n.328G>A
n.385G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.160731124G>CCA366363679PLGc.283G>C (p.Val95Leu)
c.1381G>C (p.Val461Leu)
c.1330G>C (p.Val444Leu)
n.328G>C
n.385G>C
 dbSNP gnomAD v3 gnomAD v4
6g.160731124G=CA1677201349PLGc.283G= (p.Val95=)
c.1381G= (p.Val461=)
c.1330G= (p.Val444=)
n.328G=
n.385G=
6g.160731124G>TCA366363678PLGc.283G>T (p.Val95Phe)
c.1381G>T (p.Val461Phe)
c.1330G>T (p.Val444Phe)
n.328G>T
n.385G>T
 dbSNP
6g.160731125T>ACA366363682PLGc.284T>A (p.Val95Asp)
c.1382T>A (p.Val461Asp)
c.1331T>A (p.Val444Asp)
n.329T>A
n.386T>A
6g.160731125T>CCA366363680PLGc.284T>C (p.Val95Ala)
c.1382T>C (p.Val461Ala)
c.1331T>C (p.Val444Ala)
n.329T>C
n.386T>C
6g.160731125T>GCA366363681PLGc.284T>G (p.Val95Gly)
c.1382T>G (p.Val461Gly)
c.1331T>G (p.Val444Gly)
n.329T>G
n.386T>G
6g.160731126C>ACA453028198PLGc.285C>A (p.Val95=)
c.1383C>A (p.Val461=)
c.1332C>A (p.Val444=)
n.330C>A
n.387C>A
6g.160731126C>GCA453028199PLGc.285C>G (p.Val95=)
c.1383C>G (p.Val461=)
c.1332C>G (p.Val444=)
n.330C>G
n.387C>G
6g.160731126C>TCA453028200PLGc.285C>T (p.Val95=)
c.1383C>T (p.Val461=)
c.1332C>T (p.Val444=)
n.330C>T
n.387C>T
6g.160731127A>CCA453028201PLGc.286A>C (p.Arg96=)
c.1384A>C (p.Arg462=)
c.1333A>C (p.Arg445=)
n.331A>C
n.388A>C
6g.160731127A>GCA366363683PLGc.286A>G (p.Arg96Gly)
c.1384A>G (p.Arg462Gly)
c.1333A>G (p.Arg445Gly)
n.331A>G
n.388A>G
6g.160731127A>TCA366363684PLGc.286A>T (p.Arg96Trp)
c.1384A>T (p.Arg462Trp)
c.1333A>T (p.Arg445Trp)
n.331A>T
n.388A>T
 COSMIC
6g.160731128G>ACA366363685PLGc.287G>A (p.Arg96Lys)
c.1385G>A (p.Arg462Lys)
c.1334G>A (p.Arg445Lys)
n.332G>A
n.389G>A
6g.160731128G>CCA4087752PLGc.287G>C (p.Arg96Thr)
c.1385G>C (p.Arg462Thr)
c.1334G>C (p.Arg445Thr)
n.332G>C
n.389G>C
 dbSNP ExAC gnomAD v4
6g.160731128G=CA1677201350PLGc.287G= (p.Arg96=)
c.1385G= (p.Arg462=)
c.1334G= (p.Arg445=)
n.332G=
n.389G=
6g.160731128G>TCA151227077PLGc.287G>T (p.Arg96Met)
c.1385G>T (p.Arg462Met)
c.1334G>T (p.Arg445Met)
n.332G>T
n.389G>T
 dbSNP gnomAD v4
6g.160731129G>ACA453028205PLGc.288G>A (p.Arg96=)
c.1386G>A (p.Arg462=)
c.1335G>A (p.Arg445=)
n.333G>A
n.390G>A
6g.160731129G>CCA4087754PLGc.288G>C (p.Arg96Ser)
c.1386G>C (p.Arg462Ser)
c.1335G>C (p.Arg445Ser)
n.333G>C
n.390G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731129G=CA1677201351PLGc.288G= (p.Arg96=)
c.1386G= (p.Arg462=)
c.1335G= (p.Arg445=)
n.333G=
n.390G=
6g.160731129G>TCA4087753PLGc.288G>T (p.Arg96Ser)
c.1386G>T (p.Arg462Ser)
c.1335G>T (p.Arg445Ser)
n.333G>T
n.390G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731130T>ACA366363686PLGc.289T>A (p.Trp97Arg)
c.1387T>A (p.Trp463Arg)
c.1336T>A (p.Trp446Arg)
n.334T>A
n.391T>A
6g.160731130T>CCA366363687PLGc.289T>C (p.Trp97Arg)
c.1387T>C (p.Trp463Arg)
c.1336T>C (p.Trp446Arg)
n.334T>C
n.391T>C
6g.160731130T>GCA366363688PLGc.289T>G (p.Trp97Gly)
c.1387T>G (p.Trp463Gly)
c.1336T>G (p.Trp446Gly)
n.334T>G
n.391T>G
 dbSNP
6g.160731130T=CA1677201352PLGc.289T= (p.Trp97=)
c.1387T= (p.Trp463=)
c.1336T= (p.Trp446=)
n.334T=
n.391T=
6g.160731131G>ACA366363691PLGc.290G>A (p.Trp97Ter)
c.1388G>A (p.Trp463Ter)
c.1337G>A (p.Trp446Ter)
n.335G>A
n.392G>A
6g.160731131G>CCA366363689PLGc.290G>C (p.Trp97Ser)
c.1388G>C (p.Trp463Ser)
c.1337G>C (p.Trp446Ser)
n.335G>C
n.392G>C
6g.160731131G>TCA366363690PLGc.290G>T (p.Trp97Leu)
c.1388G>T (p.Trp463Leu)
c.1337G>T (p.Trp446Leu)
n.335G>T
n.392G>T
6g.160731133dupCA151227086PLGc.292dup (p.Glu98GlyfsTer?)
c.1390dup (p.Glu464GlyfsTer?)
c.1339dup (p.Glu447GlyfsTer?)
n.337dup
n.394dup
 dbSNP
6g.160731132G>ACA366363692PLGc.291G>A (p.Trp97Ter)
c.1389G>A (p.Trp463Ter)
c.1338G>A (p.Trp446Ter)
n.336G>A
n.393G>A
6g.160731132G>CCA366363693PLGc.291G>C (p.Trp97Cys)
c.1389G>C (p.Trp463Cys)
c.1338G>C (p.Trp446Cys)
n.336G>C
n.393G>C
6g.160731132G>TCA366363694PLGc.291G>T (p.Trp97Cys)
c.1389G>T (p.Trp463Cys)
c.1338G>T (p.Trp446Cys)
n.336G>T
n.393G>T
6g.160731133G>ACA366363695PLGc.292G>A (p.Glu98Lys)
c.1390G>A (p.Glu464Lys)
c.1339G>A (p.Glu447Lys)
n.337G>A
n.394G>A
 COSMIC
6g.160731133G>CCA366363696PLGc.292G>C (p.Glu98Gln)
c.1390G>C (p.Glu464Gln)
c.1339G>C (p.Glu447Gln)
n.337G>C
n.394G>C
 dbSNP gnomAD v2 gnomAD v4
6g.160731133G=CA1677201353PLGc.292G= (p.Glu98=)
c.1390G= (p.Glu464=)
c.1339G= (p.Glu447=)
n.337G=
n.394G=
6g.160731133G>TCA366363697PLGc.292G>T (p.Glu98Ter)
c.1390G>T (p.Glu464Ter)
c.1339G>T (p.Glu447Ter)
n.337G>T
n.394G>T
 gnomAD v4
6g.160731134A>CCA366363698PLGc.293A>C (p.Glu98Ala)
c.1391A>C (p.Glu464Ala)
c.1340A>C (p.Glu447Ala)
n.338A>C
n.395A>C
6g.160731134A>GCA366363699PLGc.293A>G (p.Glu98Gly)
c.1391A>G (p.Glu464Gly)
c.1340A>G (p.Glu447Gly)
n.338A>G
n.395A>G
 gnomAD v4
6g.160731134A>TCA366363700PLGc.293A>T (p.Glu98Val)
c.1391A>T (p.Glu464Val)
c.1340A>T (p.Glu447Val)
n.338A>T
n.395A>T
6g.160731135G>ACA453028208PLGc.294G>A (p.Glu98=)
c.1392G>A (p.Glu464=)
c.1341G>A (p.Glu447=)
n.339G>A
n.396G>A
6g.160731135G>CCA366363701PLGc.294G>C (p.Glu98Asp)
c.1392G>C (p.Glu464Asp)
c.1341G>C (p.Glu447Asp)
n.339G>C
n.396G>C
6g.160731135G>TCA366363702PLGc.294G>T (p.Glu98Asp)
c.1392G>T (p.Glu464Asp)
c.1341G>T (p.Glu447Asp)
n.339G>T
n.396G>T
6g.160731136T>ACA366363704PLGc.295T>A (p.Tyr99Asn)
c.1393T>A (p.Tyr465Asn)
c.1342T>A (p.Tyr448Asn)
n.340T>A
n.397T>A
6g.160731136T>CCA366363705PLGc.295T>C (p.Tyr99His)
c.1393T>C (p.Tyr465His)
c.1342T>C (p.Tyr448His)
n.340T>C
n.397T>C
6g.160731136T>GCA366363703PLGc.295T>G (p.Tyr99Asp)
c.1393T>G (p.Tyr465Asp)
c.1342T>G (p.Tyr448Asp)
n.340T>G
n.397T>G
6g.160731137A>CCA366363706PLGc.296A>C (p.Tyr99Ser)
c.1394A>C (p.Tyr465Ser)
c.1343A>C (p.Tyr448Ser)
n.341A>C
n.398A>C
6g.160731137A>GCA366363707PLGc.296A>G (p.Tyr99Cys)
c.1394A>G (p.Tyr465Cys)
c.1343A>G (p.Tyr448Cys)
n.341A>G
n.398A>G
 gnomAD v4
6g.160731137A>TCA366363708PLGc.296A>T (p.Tyr99Phe)
c.1394A>T (p.Tyr465Phe)
c.1343A>T (p.Tyr448Phe)
n.341A>T
n.398A>T
6g.160731138C>ACA366363709PLGc.297C>A (p.Tyr99Ter)
c.1395C>A (p.Tyr465Ter)
c.1344C>A (p.Tyr448Ter)
n.342C>A
n.399C>A
6g.160731138C>GCA366363710PLGc.297C>G (p.Tyr99Ter)
c.1395C>G (p.Tyr465Ter)
c.1344C>G (p.Tyr448Ter)
n.342C>G
n.399C>G
6g.160731138C>TCA453028212PLGc.297C>T (p.Tyr99=)
c.1395C>T (p.Tyr465=)
c.1344C>T (p.Tyr448=)
n.342C>T
n.399C>T
 ClinVar
6g.160731139T>ACA366363711PLGc.298T>A (p.Cys100Ser)
c.1396T>A (p.Cys466Ser)
c.1345T>A (p.Cys449Ser)
n.343T>A
n.400T>A
6g.160731139T>CCA366363712PLGc.298T>C (p.Cys100Arg)
c.1396T>C (p.Cys466Arg)
c.1345T>C (p.Cys449Arg)
n.343T>C
n.400T>C
6g.160731139T>GCA366363713PLGc.298T>G (p.Cys100Gly)
c.1396T>G (p.Cys466Gly)
c.1345T>G (p.Cys449Gly)
n.343T>G
n.400T>G
6g.160731140G>ACA366363714PLGc.299G>A (p.Cys100Tyr)
c.1397G>A (p.Cys466Tyr)
c.1346G>A (p.Cys449Tyr)
n.344G>A
n.401G>A
6g.160731140G>CCA366363715PLGc.299G>C (p.Cys100Ser)
c.1397G>C (p.Cys466Ser)
c.1346G>C (p.Cys449Ser)
n.344G>C
n.401G>C
6g.160731140G>TCA366363716PLGc.299G>T (p.Cys100Phe)
c.1397G>T (p.Cys466Phe)
c.1346G>T (p.Cys449Phe)
n.344G>T
n.401G>T
6g.160731141C>ACA366363717PLGc.300C>A (p.Cys100Ter)
c.1398C>A (p.Cys466Ter)
c.1347C>A (p.Cys449Ter)
n.345C>A
n.402C>A
6g.160731141C>GCA366363718PLGc.300C>G (p.Cys100Trp)
c.1398C>G (p.Cys466Trp)
c.1347C>G (p.Cys449Trp)
n.345C>G
n.402C>G
6g.160731141C>TCA453028215PLGc.300C>T (p.Cys100=)
c.1398C>T (p.Cys466=)
c.1347C>T (p.Cys449=)
n.345C>T
n.402C>T
6g.160731142A=CA1677201354PLGc.301A= (p.Asn101=)
c.1399A= (p.Asn467=)
c.1348A= (p.Asn450=)
n.346A=
n.403A=
6g.160731142A>CCA366363721PLGc.301A>C (p.Asn101His)
c.1399A>C (p.Asn467His)
c.1348A>C (p.Asn450His)
n.346A>C
n.403A>C
 dbSNP
6g.160731142A>GCA366363720PLGc.301A>G (p.Asn101Asp)
c.1399A>G (p.Asn467Asp)
c.1348A>G (p.Asn450Asp)
n.346A>G
n.403A>G
6g.160731142A>TCA366363719PLGc.301A>T (p.Asn101Tyr)
c.1399A>T (p.Asn467Tyr)
c.1348A>T (p.Asn450Tyr)
n.346A>T
n.403A>T
6g.160731143A>CCA366363722PLGc.302A>C (p.Asn101Thr)
c.1400A>C (p.Asn467Thr)
c.1349A>C (p.Asn450Thr)
n.347A>C
n.404A>C
6g.160731143A>GCA366363723PLGc.302A>G (p.Asn101Ser)
c.1400A>G (p.Asn467Ser)
c.1349A>G (p.Asn450Ser)
n.347A>G
n.404A>G
 gnomAD v4
6g.160731143A>TCA366363724PLGc.302A>T (p.Asn101Ile)
c.1400A>T (p.Asn467Ile)
c.1349A>T (p.Asn450Ile)
n.347A>T
n.404A>T
6g.160731144C>ACA366363725PLGc.303C>A (p.Asn101Lys)
c.1401C>A (p.Asn467Lys)
c.1350C>A (p.Asn450Lys)
n.348C>A
n.405C>A
6g.160731144C>GCA366363726PLGc.303C>G (p.Asn101Lys)
c.1401C>G (p.Asn467Lys)
c.1350C>G (p.Asn450Lys)
n.348C>G
n.405C>G
6g.160731144C>TCA453028218PLGc.303C>T (p.Asn101=)
c.1401C>T (p.Asn467=)
c.1350C>T (p.Asn450=)
n.348C>T
n.405C>T
6g.160731145C>ACA366363727PLGc.304C>A (p.Leu102Met)
c.1402C>A (p.Leu468Met)
c.1351C>A (p.Leu451Met)
n.349C>A
n.406C>A
6g.160731145C=CA1677201355PLGc.304C= (p.Leu102=)
c.1402C= (p.Leu468=)
c.1351C= (p.Leu451=)
n.349C=
n.406C=
6g.160731145C>GCA366363728PLGc.304C>G (p.Leu102Val)
c.1402C>G (p.Leu468Val)
c.1351C>G (p.Leu451Val)
n.349C>G
n.406C>G
6g.160731145C>TCA453028220PLGc.304C>T (p.Leu102=)
c.1402C>T (p.Leu468=)
c.1351C>T (p.Leu451=)
n.349C>T
n.406C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160731146T>ACA366363729PLGc.305T>A (p.Leu102Gln)
c.1403T>A (p.Leu468Gln)
c.1352T>A (p.Leu451Gln)
n.350T>A
n.407T>A
6g.160731146T>CCA366363730PLGc.305T>C (p.Leu102Pro)
c.1403T>C (p.Leu468Pro)
c.1352T>C (p.Leu451Pro)
n.350T>C
n.407T>C
6g.160731146T>GCA366363731PLGc.305T>G (p.Leu102Arg)
c.1403T>G (p.Leu468Arg)
c.1352T>G (p.Leu451Arg)
n.350T>G
n.407T>G
6g.160731147G>ACA453028222PLGc.306G>A (p.Leu102=)
c.1404G>A (p.Leu468=)
c.1353G>A (p.Leu451=)
n.351G>A
n.408G>A
 gnomAD v4
6g.160731147G>CCA453028223PLGc.306G>C (p.Leu102=)
c.1404G>C (p.Leu468=)
c.1353G>C (p.Leu451=)
n.351G>C
n.408G>C
6g.160731147G>TCA453028224PLGc.306G>T (p.Leu102=)
c.1404G>T (p.Leu468=)
c.1353G>T (p.Leu451=)
n.351G>T
n.408G>T
6g.160731147_160731148delinsGACA1677201356PLGc.306_307delinsGA (p.Leu102=)
c.1404_1405delinsGA (p.Leu468=)
c.1353_1354delinsGA (p.Leu451=)
n.351_352delinsGA
n.408_409delinsGA
6g.160731148A>CCA366363732PLGc.307A>C (p.Lys103Gln)
c.1405A>C (p.Lys469Gln)
c.1354A>C (p.Lys452Gln)
n.352A>C
n.409A>C
6g.160731148A>GCA366363733PLGc.307A>G (p.Lys103Glu)
c.1405A>G (p.Lys469Glu)
c.1354A>G (p.Lys452Glu)
n.352A>G
n.409A>G
6g.160731148A>TCA366363734PLGc.307A>T (p.Lys103Ter)
c.1405A>T (p.Lys469Ter)
c.1354A>T (p.Lys452Ter)
n.352A>T
n.409A>T
6g.160731153dupCA453028225PLGc.312dup (p.Cys105MetfsTer?)
c.1410dup (p.Cys471MetfsTer?)
c.1359dup (p.Cys454MetfsTer?)
n.357dup
n.414dup
 gnomAD v4 COSMIC
6g.160731153delCA1677201357PLGc.312del (p.Lys104AsnfsTer10)
c.1410del (p.Lys470AsnfsTer10)
c.1359del (p.Lys453AsnfsTer10)
n.357del
n.414del
 dbSNP gnomAD v4
6g.160731149A>CCA366363736PLGc.308A>C (p.Lys103Thr)
c.1406A>C (p.Lys469Thr)
c.1355A>C (p.Lys452Thr)
n.353A>C
n.410A>C
6g.160731149A>GCA366363737PLGc.308A>G (p.Lys103Arg)
c.1406A>G (p.Lys469Arg)
c.1355A>G (p.Lys452Arg)
n.353A>G
n.410A>G
 gnomAD v4
6g.160731149A>TCA366363735PLGc.308A>T (p.Lys103Ile)
c.1406A>T (p.Lys469Ile)
c.1355A>T (p.Lys452Ile)
n.353A>T
n.410A>T
6g.160731150A=CA1677201358PLGc.309A= (p.Lys103=)
c.1407A= (p.Lys469=)
c.1356A= (p.Lys452=)
n.354A=
n.411A=
6g.160731150A>CCA366363739PLGc.309A>C (p.Lys103Asn)
c.1407A>C (p.Lys469Asn)
c.1356A>C (p.Lys452Asn)
n.354A>C
n.411A>C
6g.160731150A>GCA4087755PLGc.309A>G (p.Lys103=)
c.1407A>G (p.Lys469=)
c.1356A>G (p.Lys452=)
n.354A>G
n.411A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731150A>TCA366363738PLGc.309A>T (p.Lys103Asn)
c.1407A>T (p.Lys469Asn)
c.1356A>T (p.Lys452Asn)
n.354A>T
n.411A>T
6g.160731151A=CA1677201359PLGc.310A= (p.Lys104=)
c.1408A= (p.Lys470=)
c.1357A= (p.Lys453=)
n.355A=
n.412A=
6g.160731151A>CCA366363740PLGc.310A>C (p.Lys104Gln)
c.1408A>C (p.Lys470Gln)
c.1357A>C (p.Lys453Gln)
n.355A>C
n.412A>C
6g.160731151A>GCA4087756PLGc.310A>G (p.Lys104Glu)
c.1408A>G (p.Lys470Glu)
c.1357A>G (p.Lys453Glu)
n.355A>G
n.412A>G
 dbSNP ExAC gnomAD v2
6g.160731151A>TCA366363741PLGc.310A>T (p.Lys104Ter)
c.1408A>T (p.Lys470Ter)
c.1357A>T (p.Lys453Ter)
n.355A>T
n.412A>T
6g.160731152A=CA1677201360PLGc.311A= (p.Lys104=)
c.1409A= (p.Lys470=)
c.1358A= (p.Lys453=)
n.356A=
n.413A=
6g.160731152A>CCA366363742PLGc.311A>C (p.Lys104Thr)
c.1409A>C (p.Lys470Thr)
c.1358A>C (p.Lys453Thr)
n.356A>C
n.413A>C
 dbSNP gnomAD v3 gnomAD v4
6g.160731152A>GCA366363743PLGc.311A>G (p.Lys104Arg)
c.1409A>G (p.Lys470Arg)
c.1358A>G (p.Lys453Arg)
n.356A>G
n.413A>G
 gnomAD v4
6g.160731152A>TCA151227104PLGc.311A>T (p.Lys104Ile)
c.1409A>T (p.Lys470Ile)
c.1358A>T (p.Lys453Ile)
n.356A>T
n.413A>T
 dbSNP
6g.160731153A>CCA366363744PLGc.312A>C (p.Lys104Asn)
c.1410A>C (p.Lys470Asn)
c.1359A>C (p.Lys453Asn)
n.357A>C
n.414A>C
6g.160731153A>GCA453028228PLGc.312A>G (p.Lys104=)
c.1410A>G (p.Lys470=)
c.1359A>G (p.Lys453=)
n.357A>G
n.414A>G
 gnomAD v4
6g.160731153A>TCA366363745PLGc.312A>T (p.Lys104Asn)
c.1410A>T (p.Lys470Asn)
c.1359A>T (p.Lys453Asn)
n.357A>T
n.414A>T
6g.160731154T>ACA366363746PLGc.313T>A (p.Cys105Ser)
c.1411T>A (p.Cys471Ser)
c.1360T>A (p.Cys454Ser)
n.358T>A
n.415T>A
 dbSNP
6g.160731154T>CCA366363747PLGc.313T>C (p.Cys105Arg)
c.1411T>C (p.Cys471Arg)
c.1360T>C (p.Cys454Arg)
n.358T>C
n.415T>C
6g.160731154T>GCA366363748PLGc.313T>G (p.Cys105Gly)
c.1411T>G (p.Cys471Gly)
c.1360T>G (p.Cys454Gly)
n.358T>G
n.415T>G
6g.160731154T=CA1677201361PLGc.313T= (p.Cys105=)
c.1411T= (p.Cys471=)
c.1360T= (p.Cys454=)
n.358T=
n.415T=
6g.160731155G>ACA366363750PLGc.314G>A (p.Cys105Tyr)
c.1412G>A (p.Cys471Tyr)
c.1361G>A (p.Cys454Tyr)
n.359G>A
n.416G>A
6g.160731155G>CCA366363751PLGc.314G>C (p.Cys105Ser)
c.1412G>C (p.Cys471Ser)
c.1361G>C (p.Cys454Ser)
n.359G>C
n.416G>C
6g.160731155G>TCA366363749PLGc.314G>T (p.Cys105Phe)
c.1412G>T (p.Cys471Phe)
c.1361G>T (p.Cys454Phe)
n.359G>T
n.416G>T
6g.160731156C>ACA366363752PLGc.315C>A (p.Cys105Ter)
c.1413C>A (p.Cys471Ter)
c.1362C>A (p.Cys454Ter)
n.360C>A
n.417C>A
6g.160731156C=CA1677201362PLGc.315C= (p.Cys105=)
c.1413C= (p.Cys471=)
c.1362C= (p.Cys454=)
n.360C=
n.417C=
6g.160731156C>GCA366363753PLGc.315C>G (p.Cys105Trp)
c.1413C>G (p.Cys471Trp)
c.1362C>G (p.Cys454Trp)
n.360C>G
n.417C>G
6g.160731156C>TCA453028233PLGc.315C>T (p.Cys105=)
c.1413C>T (p.Cys471=)
c.1362C>T (p.Cys454=)
n.360C>T
n.417C>T
 dbSNP gnomAD v2 gnomAD v4
6g.160731157T>ACA366363754PLGc.316T>A (p.Ser106Thr)
c.1414T>A (p.Ser472Thr)
c.1363T>A (p.Ser455Thr)
n.361T>A
n.418T>A
6g.160731157T>CCA4087757PLGc.316T>C (p.Ser106Pro)
c.1414T>C (p.Ser472Pro)
c.1363T>C (p.Ser455Pro)
n.361T>C
n.418T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731157T>GCA366363755PLGc.316T>G (p.Ser106Ala)
c.1414T>G (p.Ser472Ala)
c.1363T>G (p.Ser455Ala)
n.361T>G
n.418T>G
6g.160731157T=CA1677201363PLGc.316T= (p.Ser106=)
c.1414T= (p.Ser472=)
c.1363T= (p.Ser455=)
n.361T=
n.418T=
6g.160731158C>ACA366363758PLGc.317C>A (p.Ser106Ter)
c.1415C>A (p.Ser472Ter)
c.1364C>A (p.Ser455Ter)
n.362C>A
n.419C>A
 gnomAD v4
6g.160731158C>GCA366363756PLGc.317C>G (p.Ser106Ter)
c.1415C>G (p.Ser472Ter)
c.1364C>G (p.Ser455Ter)
n.362C>G
n.419C>G
6g.160731158C>TCA366363757PLGc.317C>T (p.Ser106Leu)
c.1415C>T (p.Ser472Leu)
c.1364C>T (p.Ser455Leu)
n.362C>T
n.419C>T
6g.160731159A=CA1677201364PLGc.318A= (p.Ser106=)
c.1416A= (p.Ser472=)
c.1365A= (p.Ser455=)
n.363A=
n.420A=
6g.160731159A>CCA453028239PLGc.318A>C (p.Ser106=)
c.1416A>C (p.Ser472=)
c.1365A>C (p.Ser455=)
n.363A>C
n.420A>C
6g.160731159A>GCA453028237PLGc.318A>G (p.Ser106=)
c.1416A>G (p.Ser472=)
c.1365A>G (p.Ser455=)
n.363A>G
n.420A>G
6g.160731159A>TCA453028235PLGc.318A>T (p.Ser106=)
c.1416A>T (p.Ser472=)
c.1365A>T (p.Ser455=)
n.363A>T
n.420A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160731159_160731160delCA2681091595PLGc.318_319del (p.Gly107AsnfsTer?)
c.1416_1417del (p.Gly473AsnfsTer?)
c.1365_1366del (p.Gly456AsnfsTer?)
n.363_364del
n.420_421del
 gnomAD v4
6g.160731160G>ACA366363759PLGc.319G>A (p.Gly107Arg)
c.1417G>A (p.Gly473Arg)
c.1366G>A (p.Gly456Arg)
n.364G>A
n.421G>A
6g.160731160G>CCA366363760PLGc.319G>C (p.Gly107Arg)
c.1417G>C (p.Gly473Arg)
c.1366G>C (p.Gly456Arg)
n.364G>C
n.421G>C
 ClinVar
6g.160731160G>TCA366363761PLGc.319G>T (p.Gly107Ter)
c.1417G>T (p.Gly473Ter)
c.1366G>T (p.Gly456Ter)
n.364G>T
n.421G>T
6g.160731161G>ACA366363762PLGc.320G>A (p.Gly107Glu)
c.1418G>A (p.Gly473Glu)
c.1367G>A (p.Gly456Glu)
n.365G>A
n.422G>A
 dbSNP gnomAD v3 gnomAD v4
6g.160731161G>CCA366363763PLGc.320G>C (p.Gly107Ala)
c.1418G>C (p.Gly473Ala)
c.1367G>C (p.Gly456Ala)
n.365G>C
n.422G>C
6g.160731161G=CA1677201365PLGc.320G= (p.Gly107=)
c.1418G= (p.Gly473=)
c.1367G= (p.Gly456=)
n.365G=
n.422G=
6g.160731161G>TCA366363764PLGc.320G>T (p.Gly107Val)
c.1418G>T (p.Gly473Val)
c.1367G>T (p.Gly456Val)
n.365G>T
n.422G>T
6g.160731162A=CA1677201366PLGc.321A= (p.Gly107=)
c.1419A= (p.Gly473=)
c.1368A= (p.Gly456=)
n.366A=
n.423A=
6g.160731162A>CCA453028240PLGc.321A>C (p.Gly107=)
c.1419A>C (p.Gly473=)
c.1368A>C (p.Gly456=)
n.366A>C
n.423A>C
6g.160731162A>GCA4087758PLGc.321A>G (p.Gly107=)
c.1419A>G (p.Gly473=)
c.1368A>G (p.Gly456=)
n.366A>G
n.423A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160731162A>TCA453028241PLGc.321A>T (p.Gly107=)
c.1419A>T (p.Gly473=)
c.1368A>T (p.Gly456=)
n.366A>T
n.423A>T
6g.160731163A=CA1677201367PLGc.322A= (p.Thr108=)
c.1420A= (p.Thr474=)
c.1369A= (p.Thr457=)
n.367A=
n.424A=
6g.160731163A>CCA366363765PLGc.322A>C (p.Thr108Pro)
c.1420A>C (p.Thr474Pro)
c.1369A>C (p.Thr457Pro)
n.367A>C
n.424A>C
6g.160731163A>GCA4087759PLGc.322A>G (p.Thr108Ala)
c.1420A>G (p.Thr474Ala)
c.1369A>G (p.Thr457Ala)
n.367A>G
n.424A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160731163A>TCA366363766PLGc.322A>T (p.Thr108Ser)
c.1420A>T (p.Thr474Ser)
c.1369A>T (p.Thr457Ser)
n.367A>T
n.424A>T
6g.160731164C>ACA366363767PLGc.323C>A (p.Thr108Lys)
c.1421C>A (p.Thr474Lys)
c.1370C>A (p.Thr457Lys)
n.368C>A
n.425C>A
6g.160731164C>GCA366363768PLGc.323C>G (p.Thr108Arg)
c.1421C>G (p.Thr474Arg)
c.1370C>G (p.Thr457Arg)
n.368C>G
n.425C>G
6g.160731164C>TCA366363769PLGc.323C>T (p.Thr108Ile)
c.1421C>T (p.Thr474Ile)
c.1370C>T (p.Thr457Ile)
n.368C>T
n.425C>T
6g.160731165A=CA1677201368PLGc.324A= (p.Thr108=)
c.1422A= (p.Thr474=)
c.1371A= (p.Thr457=)
n.369A=
n.426A=
6g.160731165A>CCA453028246PLGc.324A>C (p.Thr108=)
c.1422A>C (p.Thr474=)
c.1371A>C (p.Thr457=)
n.369A>C
n.426A>C
6g.160731165A>GCA4087760PLGc.324A>G (p.Thr108=)
c.1422A>G (p.Thr474=)
c.1371A>G (p.Thr457=)
n.369A>G
n.426A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731165A>TCA453028245PLGc.324A>T (p.Thr108=)
c.1422A>T (p.Thr474=)
c.1371A>T (p.Thr457=)
n.369A>T
n.426A>T
6g.160731166G>ACA366363770PLGc.325G>A (p.Glu109Lys)
c.1423G>A (p.Glu475Lys)
c.1372G>A (p.Glu458Lys)
n.370G>A
n.427G>A
6g.160731166G>CCA366363771PLGc.325G>C (p.Glu109Gln)
c.1423G>C (p.Glu475Gln)
c.1372G>C (p.Glu458Gln)
n.370G>C
n.427G>C
6g.160731166G>TCA366363772PLGc.325G>T (p.Glu109Ter)
c.1423G>T (p.Glu475Ter)
c.1372G>T (p.Glu458Ter)
n.370G>T
n.427G>T
6g.160731167A>CCA366363773PLGc.326A>C (p.Glu109Ala)
c.1424A>C (p.Glu475Ala)
c.1373A>C (p.Glu458Ala)
n.371A>C
n.428A>C
6g.160731167A>GCA366363774PLGc.326A>G (p.Glu109Gly)
c.1424A>G (p.Glu475Gly)
c.1373A>G (p.Glu458Gly)
n.371A>G
n.428A>G
6g.160731167A>TCA366363775PLGc.326A>T (p.Glu109Val)
c.1424A>T (p.Glu475Val)
c.1373A>T (p.Glu458Val)
n.371A>T
n.428A>T
6g.160731168A>CCA366363776PLGc.327A>C (p.Glu109Asp)
c.1425A>C (p.Glu475Asp)
c.1374A>C (p.Glu458Asp)
n.372A>C
n.429A>C
6g.160731168A>GCA453028249PLGc.327A>G (p.Glu109=)
c.1425A>G (p.Glu475=)
c.1374A>G (p.Glu458=)
n.372A>G
n.429A>G
6g.160731168A>TCA366363777PLGc.327A>T (p.Glu109Asp)
c.1425A>T (p.Glu475Asp)
c.1374A>T (p.Glu458Asp)
n.372A>T
n.429A>T
6g.160731169G>ACA366363780PLGc.328G>A (p.Ala110Thr)
c.1426G>A (p.Ala476Thr)
c.1375G>A (p.Ala459Thr)
n.373G>A
n.430G>A
6g.160731169G>CCA366363779PLGc.328G>C (p.Ala110Pro)
c.1426G>C (p.Ala476Pro)
c.1375G>C (p.Ala459Pro)
n.373G>C
n.430G>C
6g.160731169G>TCA366363778PLGc.328G>T (p.Ala110Ser)
c.1426G>T (p.Ala476Ser)
c.1375G>T (p.Ala459Ser)
n.373G>T
n.430G>T
6g.160731170C>ACA366363781PLGc.329C>A (p.Ala110Glu)
c.1427C>A (p.Ala476Glu)
c.1376C>A (p.Ala459Glu)
n.374C>A
n.431C>A
6g.160731170C=CA1677201369PLGc.329C= (p.Ala110=)
c.1427C= (p.Ala476=)
c.1376C= (p.Ala459=)
n.374C=
n.431C=
6g.160731170C>GCA151227122PLGc.329C>G (p.Ala110Gly)
c.1427C>G (p.Ala476Gly)
c.1376C>G (p.Ala459Gly)
n.374C>G
n.431C>G
 ClinVar dbSNP
6g.160731170C>TCA4087761PLGc.329C>T (p.Ala110Val)
c.1427C>T (p.Ala476Val)
c.1376C>T (p.Ala459Val)
n.374C>T
n.431C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731171G>ACA4087762PLGc.330G>A (p.Ala110=)
c.1428G>A (p.Ala476=)
c.1377G>A (p.Ala459=)
n.375G>A
n.432G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731171G>CCA453028250PLGc.330G>C (p.Ala110=)
c.1428G>C (p.Ala476=)
c.1377G>C (p.Ala459=)
n.375G>C
n.432G>C
 COSMIC
6g.160731171G=CA1677201370PLGc.330G= (p.Ala110=)
c.1428G= (p.Ala476=)
c.1377G= (p.Ala459=)
n.375G=
n.432G=
6g.160731171G>TCA453028251PLGc.330G>T (p.Ala110=)
c.1428G>T (p.Ala476=)
c.1377G>T (p.Ala459=)
n.375G>T
n.432G>T
6g.160731172A>CCA366363782PLGc.331A>C (p.Ser111Arg)
c.1429A>C (p.Ser477Arg)
c.1378A>C (p.Ser460Arg)
n.376A>C
n.433A>C
6g.160731172A>GCA366363783PLGc.331A>G (p.Ser111Gly)
c.1429A>G (p.Ser477Gly)
c.1378A>G (p.Ser460Gly)
n.376A>G
n.433A>G
6g.160731172A>TCA366363784PLGc.331A>T (p.Ser111Cys)
c.1429A>T (p.Ser477Cys)
c.1378A>T (p.Ser460Cys)
n.376A>T
n.433A>T
6g.160731173G>ACA366363785PLGc.332G>A (p.Ser111Asn)
c.1430G>A (p.Ser477Asn)
c.1379G>A (p.Ser460Asn)
n.377G>A
n.434G>A
6g.160731173G>CCA366363786PLGc.332G>C (p.Ser111Thr)
c.1430G>C (p.Ser477Thr)
c.1379G>C (p.Ser460Thr)
n.377G>C
n.434G>C
6g.160731173G>TCA366363787PLGc.332G>T (p.Ser111Ile)
c.1430G>T (p.Ser477Ile)
c.1379G>T (p.Ser460Ile)
n.377G>T
n.434G>T
6g.160731174T>ACA4087763PLGc.333T>A (p.Ser111Arg)
c.1431T>A (p.Ser477Arg)
c.1380T>A (p.Ser460Arg)
n.378T>A
n.435T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731174T>CCA453028253PLGc.333T>C (p.Ser111=)
c.1431T>C (p.Ser477=)
c.1380T>C (p.Ser460=)
n.378T>C
n.435T>C
6g.160731174T>GCA366363788PLGc.333T>G (p.Ser111Arg)
c.1431T>G (p.Ser477Arg)
c.1380T>G (p.Ser460Arg)
n.378T>G
n.435T>G
6g.160731174T=CA1677201371PLGc.333T= (p.Ser111=)
c.1431T= (p.Ser477=)
c.1380T= (p.Ser460=)
n.378T=
n.435T=
6g.160731175G>ACA366363789PLGc.334G>A (p.Val112Ile)
c.1432G>A (p.Val478Ile)
c.1381G>A (p.Val461Ile)
n.379G>A
n.436G>A
 gnomAD v4
6g.160731175G>CCA366363791PLGc.334G>C (p.Val112Leu)
c.1432G>C (p.Val478Leu)
c.1381G>C (p.Val461Leu)
n.379G>C
n.436G>C
6g.160731175G>TCA366363790PLGc.334G>T (p.Val112Phe)
c.1432G>T (p.Val478Phe)
c.1381G>T (p.Val461Phe)
n.379G>T
n.436G>T
6g.160731176T>ACA366363792PLGc.335T>A (p.Val112Asp)
c.1433T>A (p.Val478Asp)
c.1382T>A (p.Val461Asp)
n.380T>A
n.437T>A
6g.160731176T>CCA366363794PLGc.335T>C (p.Val112Ala)
c.1433T>C (p.Val478Ala)
c.1382T>C (p.Val461Ala)
n.380T>C
n.437T>C
6g.160731176T>GCA366363793PLGc.335T>G (p.Val112Gly)
c.1433T>G (p.Val478Gly)
c.1382T>G (p.Val461Gly)
n.380T>G
n.437T>G
6g.160731177T>ACA453028254PLGc.336T>A (p.Val112=)
c.1434T>A (p.Val478=)
c.1383T>A (p.Val461=)
n.381T>A
n.438T>A
6g.160731177T>CCA453028255PLGc.336T>C (p.Val112=)
c.1434T>C (p.Val478=)
c.1383T>C (p.Val461=)
n.381T>C
n.438T>C
 dbSNP gnomAD v4
6g.160731177T>GCA453028256PLGc.336T>G (p.Val112=)
c.1434T>G (p.Val478=)
c.1383T>G (p.Val461=)
n.381T>G
n.438T>G
6g.160731177T=CA1677201372PLGc.336T= (p.Val112=)
c.1434T= (p.Val478=)
c.1383T= (p.Val461=)
n.381T=
n.438T=
6g.160731178G>ACA366363795PLGc.337G>A (p.Val113Ile)
c.1435G>A (p.Val479Ile)
c.1384G>A (p.Val462Ile)
n.382G>A
n.439G>A
6g.160731178G>CCA366363796PLGc.337G>C (p.Val113Leu)
c.1435G>C (p.Val479Leu)
c.1384G>C (p.Val462Leu)
n.382G>C
n.439G>C
6g.160731178G>TCA366363797PLGc.337G>T (p.Val113Leu)
c.1435G>T (p.Val479Leu)
c.1384G>T (p.Val462Leu)
n.382G>T
n.439G>T
6g.160731179T>ACA151227133PLGc.338T>A (p.Val113Glu)
c.1436T>A (p.Val479Glu)
c.1385T>A (p.Val462Glu)
n.383T>A
n.440T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160731179T>CCA4087764PLGc.338T>C (p.Val113Ala)
c.1436T>C (p.Val479Ala)
c.1385T>C (p.Val462Ala)
n.383T>C
n.440T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731179T>GCA366363798PLGc.338T>G (p.Val113Gly)
c.1436T>G (p.Val479Gly)
c.1385T>G (p.Val462Gly)
n.383T>G
n.440T>G
6g.160731179T=CA1677201373PLGc.338T= (p.Val113=)
c.1436T= (p.Val479=)
c.1385T= (p.Val462=)
n.383T=
n.440T=
6g.160731180A>CCA453028258PLGc.339A>C (p.Val113=)
c.1437A>C (p.Val479=)
c.1386A>C (p.Val462=)
n.384A>C
n.441A>C
6g.160731180A>GCA453028259PLGc.339A>G (p.Val113=)
c.1437A>G (p.Val479=)
c.1386A>G (p.Val462=)
n.384A>G
n.441A>G
 gnomAD v4
6g.160731180A>TCA453028260PLGc.339A>T (p.Val113=)
c.1437A>T (p.Val479=)
c.1386A>T (p.Val462=)
n.384A>T
n.441A>T
6g.160731181G>ACA366363799PLGc.340G>A (p.Ala114Thr)
c.1438G>A (p.Ala480Thr)
c.1387G>A (p.Ala463Thr)
n.385G>A
n.442G>A
6g.160731181G>CCA366363800PLGc.340G>C (p.Ala114Pro)
c.1438G>C (p.Ala480Pro)
c.1387G>C (p.Ala463Pro)
n.385G>C
n.442G>C
6g.160731181G>TCA366363801PLGc.340G>T (p.Ala114Ser)
c.1438G>T (p.Ala480Ser)
c.1387G>T (p.Ala463Ser)
n.385G>T
n.442G>T
6g.160731182C>ACA366363802PLGc.341C>A (p.Ala114Glu)
c.1439C>A (p.Ala480Glu)
c.1388C>A (p.Ala463Glu)
n.386C>A
n.443C>A
 COSMIC
6g.160731182C=CA1677201374PLGc.341C= (p.Ala114=)
c.1439C= (p.Ala480=)
c.1388C= (p.Ala463=)
n.386C=
n.443C=
6g.160731182C>GCA366363803PLGc.341C>G (p.Ala114Gly)
c.1439C>G (p.Ala480Gly)
c.1388C>G (p.Ala463Gly)
n.386C>G
n.443C>G
6g.160731182C>TCA366363804PLGc.341C>T (p.Ala114Val)
c.1439C>T (p.Ala480Val)
c.1388C>T (p.Ala463Val)
n.386C>T
n.443C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160731183A>CCA453028263PLGc.342A>C (p.Ala114=)
c.1440A>C (p.Ala480=)
c.1389A>C (p.Ala463=)
n.387A>C
n.444A>C
6g.160731183A>GCA453028264PLGc.342A>G (p.Ala114=)
c.1440A>G (p.Ala480=)
c.1389A>G (p.Ala463=)
n.387A>G
n.444A>G
6g.160731183A>TCA453028266PLGc.342A>T (p.Ala114=)
c.1440A>T (p.Ala480=)
c.1389A>T (p.Ala463=)
n.387A>T
n.444A>T
6g.160731184C>ACA4087765PLGc.343C>A (p.Pro115Thr)
c.1441C>A (p.Pro481Thr)
c.1390C>A (p.Pro464Thr)
n.388C>A
n.445C>A
 dbSNP ExAC gnomAD v2
6g.160731184C=CA1677201375PLGc.343C= (p.Pro115=)
c.1441C= (p.Pro481=)
c.1390C= (p.Pro464=)
n.388C=
n.445C=
6g.160731184C>GCA366363806PLGc.343C>G (p.Pro115Ala)
c.1441C>G (p.Pro481Ala)
c.1390C>G (p.Pro464Ala)
n.388C>G
n.445C>G
6g.160731184C>TCA366363805PLGc.343C>T (p.Pro115Ser)
c.1441C>T (p.Pro481Ser)
c.1390C>T (p.Pro464Ser)
n.388C>T
n.445C>T
6g.160731185C>ACA366363807PLGc.344C>A (p.Pro115His)
c.1442C>A (p.Pro481His)
c.1391C>A (p.Pro464His)
n.389C>A
n.446C>A
 gnomAD v4
6g.160731185C>GCA366363808PLGc.344C>G (p.Pro115Arg)
c.1442C>G (p.Pro481Arg)
c.1391C>G (p.Pro464Arg)
n.389C>G
n.446C>G
6g.160731185C>TCA366363809PLGc.344C>T (p.Pro115Leu)
c.1442C>T (p.Pro481Leu)
c.1391C>T (p.Pro464Leu)
n.389C>T
n.446C>T
 gnomAD v4
6g.160731186T>ACA453028267PLGc.345T>A (p.Pro115=)
c.1443T>A (p.Pro481=)
c.1392T>A (p.Pro464=)
n.390T>A
n.447T>A
6g.160731186T>CCA453028268PLGc.345T>C (p.Pro115=)
c.1443T>C (p.Pro481=)
c.1392T>C (p.Pro464=)
n.390T>C
n.447T>C
 dbSNP gnomAD v3 gnomAD v4
6g.160731186T>GCA453028269PLGc.345T>G (p.Pro115=)
c.1443T>G (p.Pro481=)
c.1392T>G (p.Pro464=)
n.390T>G
n.447T>G
6g.160731186T=CA1677201376PLGc.345T= (p.Pro115=)
c.1443T= (p.Pro481=)
c.1392T= (p.Pro464=)
n.390T=
n.447T=
6g.160731187C>ACA366363810PLGc.346C>A (p.Pro116Thr)
c.1444C>A (p.Pro482Thr)
c.1393C>A (p.Pro465Thr)
n.391C>A
n.448C>A
6g.160731187C=CA1677201377PLGc.346C= (p.Pro116=)
c.1444C= (p.Pro482=)
c.1393C= (p.Pro465=)
n.391C=
n.448C=
6g.160731187C>GCA366363811PLGc.346C>G (p.Pro116Ala)
c.1444C>G (p.Pro482Ala)
c.1393C>G (p.Pro465Ala)
n.391C>G
n.448C>G
6g.160731187C>TCA4087766PLGc.346C>T (p.Pro116Ser)
c.1444C>T (p.Pro482Ser)
c.1393C>T (p.Pro465Ser)
n.391C>T
n.448C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160731188C>ACA366363812PLGc.347C>A (p.Pro116Gln)
c.1445C>A (p.Pro482Gln)
c.1394C>A (p.Pro465Gln)
n.392C>A
n.449C>A
6g.160731188C=CA1677201378PLGc.347C= (p.Pro116=)
c.1445C= (p.Pro482=)
c.1394C= (p.Pro465=)
n.392C=
n.449C=
6g.160731188C>GCA366363813PLGc.347C>G (p.Pro116Arg)
c.1445C>G (p.Pro482Arg)
c.1394C>G (p.Pro465Arg)
n.392C>G
n.449C>G
6g.160731188C>TCA4087767PLGc.347C>T (p.Pro116Leu)
c.1445C>T (p.Pro482Leu)
c.1394C>T (p.Pro465Leu)
n.392C>T
n.449C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731189G>ACA4087768PLGc.348G>A (p.Pro116=)
c.1446G>A (p.Pro482=)
c.1395G>A (p.Pro465=)
n.393G>A
n.450G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.160731189G>CCA453028271PLGc.348G>C (p.Pro116=)
c.1446G>C (p.Pro482=)
c.1395G>C (p.Pro465=)
n.393G>C
n.450G>C
6g.160731189G=CA1677201379PLGc.348G= (p.Pro116=)
c.1446G= (p.Pro482=)
c.1395G= (p.Pro465=)
n.393G=
n.450G=
6g.160731189G>TCA453028272PLGc.348G>T (p.Pro116=)
c.1446G>T (p.Pro482=)
c.1395G>T (p.Pro465=)
n.393G>T
n.450G>T
 gnomAD v4
6g.160731190C>ACA366363815PLGc.349C>A (p.Pro117Thr)
c.1447C>A (p.Pro483Thr)
c.1396C>A (p.Pro466Thr)
n.394C>A
n.451C>A
6g.160731190C=CA1677201380PLGc.349C= (p.Pro117=)
c.1447C= (p.Pro483=)
c.1396C= (p.Pro466=)
n.394C=
n.451C=
6g.160731190C>GCA366363816PLGc.349C>G (p.Pro117Ala)
c.1447C>G (p.Pro483Ala)
c.1396C>G (p.Pro466Ala)
n.394C>G
n.451C>G
 dbSNP gnomAD v2 gnomAD v4
6g.160731190C>TCA366363814PLGc.349C>T (p.Pro117Ser)
c.1447C>T (p.Pro483Ser)
c.1396C>T (p.Pro466Ser)
n.394C>T
n.451C>T
 COSMIC
6g.160731191C>ACA366363817PLGc.350C>A (p.Pro117His)
c.1448C>A (p.Pro483His)
c.1397C>A (p.Pro466His)
n.395C>A
n.452C>A
6g.160731191C=CA1677201381PLGc.350C= (p.Pro117=)
c.1448C= (p.Pro483=)
c.1397C= (p.Pro466=)
n.395C=
n.452C=
6g.160731191C>GCA366363818PLGc.350C>G (p.Pro117Arg)
c.1448C>G (p.Pro483Arg)
c.1397C>G (p.Pro466Arg)
n.395C>G
n.452C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160731191C>TCA366363819PLGc.350C>T (p.Pro117Leu)
c.1448C>T (p.Pro483Leu)
c.1397C>T (p.Pro466Leu)
n.395C>T
n.452C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.160731192T>ACA453028277PLGc.351T>A (p.Pro117=)
c.1449T>A (p.Pro483=)
c.1398T>A (p.Pro466=)
n.396T>A
n.453T>A
6g.160731192T>CCA453028274PLGc.351T>C (p.Pro117=)
c.1449T>C (p.Pro483=)
c.1398T>C (p.Pro466=)
n.396T>C
n.453T>C
6g.160731192T>GCA453028276PLGc.351T>G (p.Pro117=)
c.1449T>G (p.Pro483=)
c.1398T>G (p.Pro466=)
n.396T>G
n.453T>G
6g.160731193G>ACA366363820PLGc.352G>A (p.Val118Ile)
c.1450G>A (p.Val484Ile)
c.1399G>A (p.Val467Ile)
n.397G>A
n.454G>A
6g.160731193G>CCA366363821PLGc.352G>C (p.Val118Leu)
c.1450G>C (p.Val484Leu)
c.1399G>C (p.Val467Leu)
n.397G>C
n.454G>C
6g.160731193G>TCA366363822PLGc.352G>T (p.Val118Phe)
c.1450G>T (p.Val484Phe)
c.1399G>T (p.Val467Phe)
n.397G>T
n.454G>T
6g.160731194T>ACA366363823PLGc.353T>A (p.Val118Asp)
c.1451T>A (p.Val484Asp)
c.1400T>A (p.Val467Asp)
n.398T>A
n.455T>A
6g.160731194T>CCA366363824PLGc.353T>C (p.Val118Ala)
c.1451T>C (p.Val484Ala)
c.1400T>C (p.Val467Ala)
n.398T>C
n.455T>C
 dbSNP gnomAD v2 gnomAD v4
6g.160731194T>GCA366363825PLGc.353T>G (p.Val118Gly)
c.1451T>G (p.Val484Gly)
c.1400T>G (p.Val467Gly)
n.398T>G
n.455T>G
6g.160731194T=CA1677201382PLGc.353T= (p.Val118=)
c.1451T= (p.Val484=)
c.1400T= (p.Val467=)
n.398T=
n.455T=
6g.160731195T>ACA453028281PLGc.354T>A (p.Val118=)
c.1452T>A (p.Val484=)
c.1401T>A (p.Val467=)
n.399T>A
n.456T>A
6g.160731195T>CCA453028280PLGc.354T>C (p.Val118=)
c.1452T>C (p.Val484=)
c.1401T>C (p.Val467=)
n.399T>C
n.456T>C
 gnomAD v4
6g.160731195T>GCA453028279PLGc.354T>G (p.Val118=)
c.1452T>G (p.Val484=)
c.1401T>G (p.Val467=)
n.399T>G
n.456T>G
6g.160731196G>ACA366363826PLGc.355G>A (p.Val119Ile)
c.1453G>A (p.Val485Ile)
c.1402G>A (p.Val468Ile)
n.400G>A
n.457G>A
6g.160731196G>CCA366363827PLGc.355G>C (p.Val119Leu)
c.1453G>C (p.Val485Leu)
c.1402G>C (p.Val468Leu)
n.400G>C
n.457G>C
6g.160731196G>TCA366363828PLGc.355G>T (p.Val119Phe)
c.1453G>T (p.Val485Phe)
c.1402G>T (p.Val468Phe)
n.400G>T
n.457G>T
6g.160731197T>ACA366363830PLGc.356T>A (p.Val119Asp)
c.1454T>A (p.Val485Asp)
c.1403T>A (p.Val468Asp)
n.401T>A
n.458T>A
 dbSNP gnomAD v2 gnomAD v4
6g.160731197T>CCA4087769PLGc.356T>C (p.Val119Ala)
c.1454T>C (p.Val485Ala)
c.1403T>C (p.Val468Ala)
n.401T>C
n.458T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160731197T>GCA366363829PLGc.356T>G (p.Val119Gly)
c.1454T>G (p.Val485Gly)
c.1403T>G (p.Val468Gly)
n.401T>G
n.458T>G
6g.160731197T=CA1677201383PLGc.356T= (p.Val119=)
c.1454T= (p.Val485=)
c.1403T= (p.Val468=)
n.401T=
n.458T=
6g.160731197_160731199delinsTCCCA1677201384PLGc.356_358delinsTCC (p.Val119=)
c.1454_1456delinsTCC (p.Val485=)
c.1403_1405delinsTCC (p.Val468=)
n.401_403delinsTCC
n.458_460delinsTCC
6g.160731197_160731198insTTTACA4087770PLGc.356_357insTTTA (p.Leu121ProfsTer?)
c.1454_1455insTTTA (p.Leu487ProfsTer?)
c.1403_1404insTTTA (p.Leu470ProfsTer?)
n.401_402insTTTA
n.458_459insTTTA
 dbSNP ExAC gnomAD v4
6g.160731198C>ACA453028285PLGc.357C>A (p.Val119=)
c.1455C>A (p.Val485=)
c.1404C>A (p.Val468=)
n.402C>A
n.459C>A
6g.160731198C=CA1677201386PLGc.357C= (p.Val119=)
c.1455C= (p.Val485=)
c.1404C= (p.Val468=)
n.402C=
n.459C=
6g.160731198C>GCA453028284PLGc.357C>G (p.Val119=)
c.1455C>G (p.Val485=)
c.1404C>G (p.Val468=)
n.402C>G
n.459C>G
6g.160731198C>TCA453028283PLGc.357C>T (p.Val119=)
c.1455C>T (p.Val485=)
c.1404C>T (p.Val468=)
n.402C>T
n.459C>T
6g.160731198_160731199delCA1677201385PLGc.357_358del (p.Leu120AlafsTer?)
c.1455_1456del (p.Leu486AlafsTer?)
c.1404_1405del (p.Leu469AlafsTer?)
n.402_403del
n.459_460del
 dbSNP gnomAD v4
6g.160731199C>ACA366363831PLGc.358C>A (p.Leu120Met)
c.1456C>A (p.Leu486Met)
c.1405C>A (p.Leu469Met)
n.403C>A
n.460C>A
6g.160731199C>GCA366363832PLGc.358C>G (p.Leu120Val)
c.1456C>G (p.Leu486Val)
c.1405C>G (p.Leu469Val)
n.403C>G
n.460C>G
6g.160731199C>TCA453028286PLGc.358C>T (p.Leu120=)
c.1456C>T (p.Leu486=)
c.1405C>T (p.Leu469=)
n.403C>T
n.460C>T
6g.160731199_160731200insACAGACCCCAGCGTCAGGTGGGAGTACCA4087771PLGc.358_359insACAGACCCCAGCGTCAGGTGGGAGTAC (p.Val119_Leu120insHisArgProGlnArgGlnValGlyVal)
c.1456_1457insACAGACCCCAGCGTCAGGTGGGAGTAC (p.Val485_Leu486insHisArgProGlnArgGlnValGlyVal)
c.1405_1406insACAGACCCCAGCGTCAGGTGGGAGTAC (p.Val468_Leu469insHisArgProGlnArgGlnValGlyVal)
n.403_404insACAGACCCCAGCGTCAGGTGGGAGTAC
n.460_461insACAGACCCCAGCGTCAGGTGGGAGTAC
 dbSNP ExAC gnomAD v4
6g.160731200T>ACA366363835PLGc.359T>A (p.Leu120Gln)
c.1457T>A (p.Leu486Gln)
c.1406T>A (p.Leu469Gln)
n.404T>A
n.461T>A
 dbSNP
6g.160731200T>CCA366363834PLGc.359T>C (p.Leu120Pro)
c.1457T>C (p.Leu486Pro)
c.1406T>C (p.Leu469Pro)
n.404T>C
n.461T>C
6g.160731200T>GCA366363833PLGc.359T>G (p.Leu120Arg)
c.1457T>G (p.Leu486Arg)
c.1406T>G (p.Leu469Arg)
n.404T>G
n.461T>G
 gnomAD v4
6g.160731201G>ACA453028287PLGc.360G>A (p.Leu120=)
c.1458G>A (p.Leu486=)
c.1407G>A (p.Leu469=)
n.405G>A
n.462G>A
 dbSNP gnomAD v4
6g.160731201G>CCA453028288PLGc.360G>C (p.Leu120=)
c.1458G>C (p.Leu486=)
c.1407G>C (p.Leu469=)
n.405G>C
n.462G>C
6g.160731201G>TCA453028289PLGc.360G>T (p.Leu120=)
c.1458G>T (p.Leu486=)
c.1407G>T (p.Leu469=)
n.405G>T
n.462G>T
6g.160731201_160731202delinsGCCA1677201387PLGc.360_361delinsGC (p.Leu120=)
c.1458_1459delinsGC (p.Leu486=)
c.1407_1408delinsGC (p.Leu469=)
n.405_406delinsGC
n.462_463delinsGC
6g.160731202delCA1677201388PLGc.361del (p.Leu121PhefsTer4)
c.1459del (p.Leu487PhefsTer4)
c.1408del (p.Leu470PhefsTer4)
n.406del
n.463del
 dbSNP gnomAD v4
6g.160731202C>ACA366363836PLGc.361C>A (p.Leu121Ile)
c.1459C>A (p.Leu487Ile)
c.1408C>A (p.Leu470Ile)
n.406C>A
n.463C>A
6g.160731202C>GCA366363837PLGc.361C>G (p.Leu121Val)
c.1459C>G (p.Leu487Val)
c.1408C>G (p.Leu470Val)
n.406C>G
n.463C>G
6g.160731202C>TCA366363838PLGc.361C>T (p.Leu121Phe)
c.1459C>T (p.Leu487Phe)
c.1408C>T (p.Leu470Phe)
n.406C>T
n.463C>T
 COSMIC
6g.160731203T>ACA366363839PLGc.362T>A (p.Leu121His)
c.1460T>A (p.Leu487His)
c.1409T>A (p.Leu470His)
n.407T>A
n.464T>A
6g.160731203T>CCA366363840PLGc.362T>C (p.Leu121Pro)
c.1460T>C (p.Leu487Pro)
c.1409T>C (p.Leu470Pro)
n.407T>C
n.464T>C
 gnomAD v4
6g.160731203T>GCA366363841PLGc.362T>G (p.Leu121Arg)
c.1460T>G (p.Leu487Arg)
c.1409T>G (p.Leu470Arg)
n.407T>G
n.464T>G
6g.160731204T>ACA453028291PLGc.363T>A (p.Leu121=)
c.1461T>A (p.Leu487=)
c.1410T>A (p.Leu470=)
n.408T>A
n.465T>A
 dbSNP
6g.160731204T>CCA453028292PLGc.363T>C (p.Leu121=)
c.1461T>C (p.Leu487=)
c.1410T>C (p.Leu470=)
n.408T>C
n.465T>C
6g.160731204T>GCA453028293PLGc.363T>G (p.Leu121=)
c.1461T>G (p.Leu487=)
c.1410T>G (p.Leu470=)
n.408T>G
n.465T>G
6g.160731204T=CA1677201389PLGc.363T= (p.Leu121=)
c.1461T= (p.Leu487=)
c.1410T= (p.Leu470=)
n.408T=
n.465T=
6g.160731205C>ACA366363844PLGc.364C>A (p.Pro122Thr)
c.1462C>A (p.Pro488Thr)
c.1411C>A (p.Pro471Thr)
n.409C>A
n.466C>A
6g.160731205C>GCA366363843PLGc.364C>G (p.Pro122Ala)
c.1462C>G (p.Pro488Ala)
c.1411C>G (p.Pro471Ala)
n.409C>G
n.466C>G
6g.160731205C>TCA366363842PLGc.364C>T (p.Pro122Ser)
c.1462C>T (p.Pro488Ser)
c.1411C>T (p.Pro471Ser)
n.409C>T
n.466C>T
6g.160731206C>ACA366363845PLGc.365C>A (p.Pro122Gln)
c.1463C>A (p.Pro488Gln)
c.1412C>A (p.Pro471Gln)
n.410C>A
n.467C>A
 gnomAD v4
6g.160731206C>GCA366363847PLGc.365C>G (p.Pro122Arg)
c.1463C>G (p.Pro488Arg)
c.1412C>G (p.Pro471Arg)
n.410C>G
n.467C>G
6g.160731206C>TCA366363846PLGc.365C>T (p.Pro122Leu)
c.1463C>T (p.Pro488Leu)
c.1412C>T (p.Pro471Leu)
n.410C>T
n.467C>T
6g.160731207A>CCA453028297PLGc.366A>C (p.Pro122=)
c.1464A>C (p.Pro488=)
c.1413A>C (p.Pro471=)
n.411A>C
n.468A>C
6g.160731207A>GCA453028296PLGc.366A>G (p.Pro122=)
c.1464A>G (p.Pro488=)
c.1413A>G (p.Pro471=)
n.411A>G
n.468A>G
6g.160731207A>TCA453028295PLGc.366A>T (p.Pro122=)
c.1464A>T (p.Pro488=)
c.1413A>T (p.Pro471=)
n.411A>T
n.468A>T
6g.160731208G>ACA4087772PLGc.367G>A (p.Asp123Asn)
c.1465G>A (p.Asp489Asn)
c.1414G>A (p.Asp472Asn)
n.412G>A
n.469G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731208G>CCA366363849PLGc.367G>C (p.Asp123His)
c.1465G>C (p.Asp489His)
c.1414G>C (p.Asp472His)
n.412G>C
n.469G>C
 gnomAD v4
6g.160731208G=CA1630834635PLGc.367G= (p.Asp123=)
c.1465G= (p.Asp489=)
c.1414G= (p.Asp472=)
n.412G=
n.469G=
6g.160731208G>TCA366363848PLGc.367G>T (p.Asp123Tyr)
c.1465G>T (p.Asp489Tyr)
c.1414G>T (p.Asp472Tyr)
n.412G>T
n.469G>T
6g.160731209A>CCA366363850PLGc.368A>C (p.Asp123Ala)
c.1466A>C (p.Asp489Ala)
c.1415A>C (p.Asp472Ala)
n.413A>C
n.470A>C
6g.160731209A>GCA366363852PLGc.368A>G (p.Asp123Gly)
c.1466A>G (p.Asp489Gly)
c.1415A>G (p.Asp472Gly)
n.413A>G
n.470A>G
6g.160731209A>TCA366363851PLGc.368A>T (p.Asp123Val)
c.1466A>T (p.Asp489Val)
c.1415A>T (p.Asp472Val)
n.413A>T
n.470A>T
6g.160731210T>ACA4087773PLGc.369T>A (p.Asp123Glu)
c.1467T>A (p.Asp489Glu)
c.1416T>A (p.Asp472Glu)
n.414T>A
n.471T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731210T>CCA453028298PLGc.369T>C (p.Asp123=)
c.1467T>C (p.Asp489=)
c.1416T>C (p.Asp472=)
n.414T>C
n.471T>C
 dbSNP gnomAD v4
6g.160731210T>GCA366363853PLGc.369T>G (p.Asp123Glu)
c.1467T>G (p.Asp489Glu)
c.1416T>G (p.Asp472Glu)
n.414T>G
n.471T>G
6g.160731210T=CA1677201390PLGc.369T= (p.Asp123=)
c.1467T= (p.Asp489=)
c.1416T= (p.Asp472=)
n.414T=
n.471T=
6g.160731211G>ACA4087774PLGc.370G>A (p.Val124Ile)
c.1468G>A (p.Val490Ile)
c.1417G>A (p.Val473Ile)
n.415G>A
n.472G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160731211G>CCA366363854PLGc.370G>C (p.Val124Leu)
c.1468G>C (p.Val490Leu)
c.1417G>C (p.Val473Leu)
n.415G>C
n.472G>C
6g.160731211G=CA1677201391PLGc.370G= (p.Val124=)
c.1468G= (p.Val490=)
c.1417G= (p.Val473=)
n.415G=
n.472G=
6g.160731211G>TCA366363855PLGc.370G>T (p.Val124Leu)
c.1468G>T (p.Val490Leu)
c.1417G>T (p.Val473Leu)
n.415G>T
n.472G>T
6g.160731212T>ACA366363856PLGc.371T>A (p.Val124Glu)
c.1469T>A (p.Val490Glu)
c.1418T>A (p.Val473Glu)
n.416T>A
n.473T>A
6g.160731212T>CCA4087775PLGc.371T>C (p.Val124Ala)
c.1469T>C (p.Val490Ala)
c.1418T>C (p.Val473Ala)
n.416T>C
n.473T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160731212T>GCA366363857PLGc.371T>G (p.Val124Gly)
c.1469T>G (p.Val490Gly)
c.1418T>G (p.Val473Gly)
n.416T>G
n.473T>G
6g.160731212T=CA1677201393PLGc.371T= (p.Val124=)
c.1469T= (p.Val490=)
c.1418T= (p.Val473=)
n.416T=
n.473T=
6g.160731212_160731214delinsTAGCA1677201392PLGc.371_373delinsTAG (p.Val124=)
c.1469_1471delinsTAG (p.Val490=)
c.1418_1420delinsTAG (p.Val473=)
n.416_418delinsTAG
n.473_475delinsTAG
6g.160731213A>CCA453028299PLGc.372A>C (p.Val124=)
c.1470A>C (p.Val490=)
c.1419A>C (p.Val473=)
n.417A>C
n.474A>C
6g.160731213A>GCA453028300PLGc.372A>G (p.Val124=)
c.1470A>G (p.Val490=)
c.1419A>G (p.Val473=)
n.417A>G
n.474A>G
6g.160731213A>TCA453028301PLGc.372A>T (p.Val124=)
c.1470A>T (p.Val490=)
c.1419A>T (p.Val473=)
n.417A>T
n.474A>T
6g.160731216_160731217delCA4087776PLGc.375_376del (p.Glu125AspfsTer?)
c.1473_1474del (p.Glu491AspfsTer?)
c.1422_1423del (p.Glu474AspfsTer?)
n.420_421del
n.477_478del
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160731214G>ACA151227181PLGc.373G>A (p.Glu125Lys)
c.1471G>A (p.Glu491Lys)
c.1420G>A (p.Glu474Lys)
n.418G>A
n.475G>A
 dbSNP gnomAD v4
6g.160731214G>CCA366363859PLGc.373G>C (p.Glu125Gln)
c.1471G>C (p.Glu491Gln)
c.1420G>C (p.Glu474Gln)
n.418G>C
n.475G>C
6g.160731214G=CA1677201394PLGc.373G= (p.Glu125=)
c.1471G= (p.Glu491=)
c.1420G= (p.Glu474=)
n.418G=
n.475G=
6g.160731214G>TCA366363858PLGc.373G>T (p.Glu125Ter)
c.1471G>T (p.Glu491Ter)
c.1420G>T (p.Glu474Ter)
n.418G>T
n.475G>T
6g.160731215A=CA1677201395PLGc.374A= (p.Glu125=)
c.1472A= (p.Glu491=)
c.1421A= (p.Glu474=)
n.419A=
n.476A=
6g.160731215A>CCA366363860PLGc.374A>C (p.Glu125Ala)
c.1472A>C (p.Glu491Ala)
c.1421A>C (p.Glu474Ala)
n.419A>C
n.476A>C
6g.160731215A>GCA366363861PLGc.374A>G (p.Glu125Gly)
c.1472A>G (p.Glu491Gly)
c.1421A>G (p.Glu474Gly)
n.419A>G
n.476A>G
 dbSNP gnomAD v2 gnomAD v4
6g.160731215A>TCA366363862PLGc.374A>T (p.Glu125Val)
c.1472A>T (p.Glu491Val)
c.1421A>T (p.Glu474Val)
n.419A>T
n.476A>T

Number of alleles fetched