Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97549580A=CA1182917392DPYDc.1504T= (p.Tyr502=)
c.1393T= (p.Tyr465=)
c.1009T= (p.Tyr337=)
1g.97549580A>CCA341377410DPYDc.1504T>G (p.Tyr502Asp)
c.1393T>G (p.Tyr465Asp)
c.1009T>G (p.Tyr337Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549580A>GCA341377412DPYDc.1504T>C (p.Tyr502His)
c.1393T>C (p.Tyr465His)
c.1009T>C (p.Tyr337His)
1g.97549580A>TCA341377413DPYDc.1504T>A (p.Tyr502Asn)
c.1393T>A (p.Tyr465Asn)
c.1009T>A (p.Tyr337Asn)
1g.97549581C>ACA341377416DPYDc.1503G>T (p.Trp501Cys)
c.1392G>T (p.Trp464Cys)
c.1008G>T (p.Trp336Cys)
1g.97549581C=CA1182917393DPYDc.1503G= (p.Trp501=)
c.1392G= (p.Trp464=)
c.1008G= (p.Trp336=)
1g.97549581C>GCA341377418DPYDc.1503G>C (p.Trp501Cys)
c.1392G>C (p.Trp464Cys)
c.1008G>C (p.Trp336Cys)
1g.97549581C>TCA341377414DPYDc.1503G>A (p.Trp501Ter)
c.1392G>A (p.Trp464Ter)
c.1008G>A (p.Trp336Ter)
 ClinVar dbSNP
1g.97549582C>ACA341377420DPYDc.1502G>T (p.Trp501Leu)
c.1391G>T (p.Trp464Leu)
c.1007G>T (p.Trp336Leu)
1g.97549582C=CA1182917394DPYDc.1502G= (p.Trp501=)
c.1391G= (p.Trp464=)
c.1007G= (p.Trp336=)
1g.97549582C>GCA341377422DPYDc.1502G>C (p.Trp501Ser)
c.1391G>C (p.Trp464Ser)
c.1007G>C (p.Trp336Ser)
1g.97549582C>TCA341377421DPYDc.1502G>A (p.Trp501Ter)
c.1391G>A (p.Trp464Ter)
c.1007G>A (p.Trp336Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.97549583A>CCA341377424DPYDc.1501T>G (p.Trp501Gly)
c.1390T>G (p.Trp464Gly)
c.1006T>G (p.Trp336Gly)
1g.97549583A>GCA341377426DPYDc.1501T>C (p.Trp501Arg)
c.1390T>C (p.Trp464Arg)
c.1006T>C (p.Trp336Arg)
1g.97549583A>TCA341377428DPYDc.1501T>A (p.Trp501Arg)
c.1390T>A (p.Trp464Arg)
c.1006T>A (p.Trp336Arg)
1g.97549584A=CA1182917395DPYDc.1500T= (p.Ser500=)
c.1389T= (p.Ser463=)
c.1005T= (p.Ser335=)
1g.97549584A>CCA419145219DPYDc.1500T>G (p.Ser500=)
c.1389T>G (p.Ser463=)
c.1005T>G (p.Ser335=)
 gnomAD v4
1g.97549584A>GCA419145220DPYDc.1500T>C (p.Ser500=)
c.1389T>C (p.Ser463=)
c.1005T>C (p.Ser335=)
 dbSNP gnomAD v2 gnomAD v4
1g.97549584A>TCA419145221DPYDc.1500T>A (p.Ser500=)
c.1389T>A (p.Ser463=)
c.1005T>A (p.Ser335=)
 dbSNP
1g.97549585G>ACA341377431DPYDc.1499C>T (p.Ser500Phe)
c.1388C>T (p.Ser463Phe)
c.1004C>T (p.Ser335Phe)
1g.97549585G>CCA341377432DPYDc.1499C>G (p.Ser500Cys)
c.1388C>G (p.Ser463Cys)
c.1004C>G (p.Ser335Cys)
1g.97549585G>TCA341377434DPYDc.1499C>A (p.Ser500Tyr)
c.1388C>A (p.Ser463Tyr)
c.1004C>A (p.Ser335Tyr)
1g.97549586A=CA1182917396DPYDc.1498T= (p.Ser500=)
c.1387T= (p.Ser463=)
c.1003T= (p.Ser335=)
1g.97549586A>CCA963335DPYDc.1498T>G (p.Ser500Ala)
c.1387T>G (p.Ser463Ala)
c.1003T>G (p.Ser335Ala)
 dbSNP ExAC gnomAD v2
1g.97549586A>GCA341377438DPYDc.1498T>C (p.Ser500Pro)
c.1387T>C (p.Ser463Pro)
c.1003T>C (p.Ser335Pro)
1g.97549586A>TCA341377440DPYDc.1498T>A (p.Ser500Thr)
c.1387T>A (p.Ser463Thr)
c.1003T>A (p.Ser335Thr)
1g.97549587A>CCA419145224DPYDc.1497T>G (p.Ala499=)
c.1386T>G (p.Ala462=)
c.1002T>G (p.Ala334=)
1g.97549587A>GCA419145226DPYDc.1497T>C (p.Ala499=)
c.1386T>C (p.Ala462=)
c.1002T>C (p.Ala334=)
1g.97549587A>TCA419145225DPYDc.1497T>A (p.Ala499=)
c.1386T>A (p.Ala462=)
c.1002T>A (p.Ala334=)
1g.97549588G>ACA341377442DPYDc.1496C>T (p.Ala499Val)
c.1385C>T (p.Ala462Val)
c.1001C>T (p.Ala334Val)
1g.97549588G>CCA341377444DPYDc.1496C>G (p.Ala499Gly)
c.1385C>G (p.Ala462Gly)
c.1001C>G (p.Ala334Gly)
1g.97549588G>TCA341377446DPYDc.1496C>A (p.Ala499Asp)
c.1385C>A (p.Ala462Asp)
c.1001C>A (p.Ala334Asp)
1g.97549589C>ACA341377452DPYDc.1495G>T (p.Ala499Ser)
c.1384G>T (p.Ala462Ser)
c.1000G>T (p.Ala334Ser)
1g.97549589C>GCA341377449DPYDc.1495G>C (p.Ala499Pro)
c.1384G>C (p.Ala462Pro)
c.1000G>C (p.Ala334Pro)
1g.97549589C>TCA341377451DPYDc.1495G>A (p.Ala499Thr)
c.1384G>A (p.Ala462Thr)
c.1000G>A (p.Ala334Thr)
1g.97549590T>ACA963337DPYDc.1494A>T (p.Gln498His)
c.1383A>T (p.Gln461His)
c.999A>T (p.Gln333His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549590T>CCA963336DPYDc.1494A>G (p.Gln498=)
c.1383A>G (p.Gln461=)
c.999A>G (p.Gln333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549590T>GCA341377453DPYDc.1494A>C (p.Gln498His)
c.1383A>C (p.Gln461His)
c.999A>C (p.Gln333His)
1g.97549590T=CA1141525979DPYDc.1494A= (p.Gln498=)
c.1383A= (p.Gln461=)
c.999A= (p.Gln333=)
1g.97549591T>ACA341377454DPYDc.1493A>T (p.Gln498Leu)
c.1382A>T (p.Gln461Leu)
c.998A>T (p.Gln333Leu)
1g.97549591T>CCA341377455DPYDc.1493A>G (p.Gln498Arg)
c.1382A>G (p.Gln461Arg)
c.998A>G (p.Gln333Arg)
1g.97549591T>GCA341377457DPYDc.1493A>C (p.Gln498Pro)
c.1382A>C (p.Gln461Pro)
c.998A>C (p.Gln333Pro)
1g.97549592G>ACA341377459DPYDc.1492C>T (p.Gln498Ter)
c.1381C>T (p.Gln461Ter)
c.997C>T (p.Gln333Ter)
1g.97549592G>CCA341377461DPYDc.1492C>G (p.Gln498Glu)
c.1381C>G (p.Gln461Glu)
c.997C>G (p.Gln333Glu)
1g.97549592G=CA1182917397DPYDc.1492C= (p.Gln498=)
c.1381C= (p.Gln461=)
c.997C= (p.Gln333=)
1g.97549592G>TCA341377463DPYDc.1492C>A (p.Gln498Lys)
c.1381C>A (p.Gln461Lys)
c.997C>A (p.Gln333Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549592_97549593insTACA2744701769DPYDc.1491_1492insTA (p.Gln498TyrfsTer?)
c.1491_1492insTA (p.Gln498TyrfsTer15)
c.1380_1381insTA (p.Gln461TyrfsTer?)
c.996_997insTA (p.Gln333TyrfsTer?)
1g.97549593C>ACA341377466DPYDc.1491G>T (p.Lys497Asn)
c.1380G>T (p.Lys460Asn)
c.996G>T (p.Lys332Asn)
1g.97549593C>GCA341377468DPYDc.1491G>C (p.Lys497Asn)
c.1380G>C (p.Lys460Asn)
c.996G>C (p.Lys332Asn)
1g.97549593C>TCA419145231DPYDc.1491G>A (p.Lys497=)
c.1380G>A (p.Lys460=)
c.996G>A (p.Lys332=)
1g.97549594T>ACA341377477DPYDc.1490A>T (p.Lys497Met)
c.1379A>T (p.Lys460Met)
c.995A>T (p.Lys332Met)
1g.97549594T>CCA341377472DPYDc.1490A>G (p.Lys497Arg)
c.1379A>G (p.Lys460Arg)
c.995A>G (p.Lys332Arg)
1g.97549594T>GCA341377471DPYDc.1490A>C (p.Lys497Thr)
c.1379A>C (p.Lys460Thr)
c.995A>C (p.Lys332Thr)
1g.97549595T>ACA341377480DPYDc.1489A>T (p.Lys497Ter)
c.1378A>T (p.Lys460Ter)
c.994A>T (p.Lys332Ter)
1g.97549595T>CCA341377482DPYDc.1489A>G (p.Lys497Glu)
c.1378A>G (p.Lys460Glu)
c.994A>G (p.Lys332Glu)
1g.97549595T>GCA341377483DPYDc.1489A>C (p.Lys497Gln)
c.1378A>C (p.Lys460Gln)
c.994A>C (p.Lys332Gln)
1g.97549596T>ACA419145236DPYDc.1488A>T (p.Gly496=)
c.1377A>T (p.Gly459=)
c.993A>T (p.Gly331=)
 gnomAD v4
1g.97549596T>CCA419145237DPYDc.1488A>G (p.Gly496=)
c.1377A>G (p.Gly459=)
c.993A>G (p.Gly331=)
 dbSNP gnomAD v3 gnomAD v4
1g.97549596T>GCA419145235DPYDc.1488A>C (p.Gly496=)
c.1377A>C (p.Gly459=)
c.993A>C (p.Gly331=)
1g.97549596T=CA1182917398DPYDc.1488A= (p.Gly496=)
c.1377A= (p.Gly459=)
c.993A= (p.Gly331=)
1g.97549597C>ACA341377484DPYDc.1487G>T (p.Gly496Val)
c.1376G>T (p.Gly459Val)
c.992G>T (p.Gly331Val)
1g.97549597C>GCA341377485DPYDc.1487G>C (p.Gly496Ala)
c.1376G>C (p.Gly459Ala)
c.992G>C (p.Gly331Ala)
1g.97549597C>TCA341377486DPYDc.1487G>A (p.Gly496Glu)
c.1376G>A (p.Gly459Glu)
c.992G>A (p.Gly331Glu)
 COSMIC
1g.97549598C>ACA341377489DPYDc.1486G>T (p.Gly496Ter)
c.1375G>T (p.Gly459Ter)
c.991G>T (p.Gly331Ter)
1g.97549598C>GCA341377487DPYDc.1486G>C (p.Gly496Arg)
c.1375G>C (p.Gly459Arg)
c.991G>C (p.Gly331Arg)
1g.97549598C>TCA341377488DPYDc.1486G>A (p.Gly496Arg)
c.1375G>A (p.Gly459Arg)
c.991G>A (p.Gly331Arg)
1g.97549599A=CA1182917399DPYDc.1485T= (p.Asp495=)
c.1374T= (p.Asp458=)
c.990T= (p.Asp330=)
1g.97549599A>CCA341377490DPYDc.1485T>G (p.Asp495Glu)
c.1374T>G (p.Asp458Glu)
c.990T>G (p.Asp330Glu)
1g.97549599A>GCA419145239DPYDc.1485T>C (p.Asp495=)
c.1374T>C (p.Asp458=)
c.990T>C (p.Asp330=)
 dbSNP gnomAD v4
1g.97549599A>TCA341377491DPYDc.1485T>A (p.Asp495Glu)
c.1374T>A (p.Asp458Glu)
c.990T>A (p.Asp330Glu)
1g.97549600T>ACA341377493DPYDc.1484A>T (p.Asp495Val)
c.1373A>T (p.Asp458Val)
c.989A>T (p.Asp330Val)
1g.97549600T>CCA27517937DPYDc.1484A>G (p.Asp495Gly)
c.1373A>G (p.Asp458Gly)
c.989A>G (p.Asp330Gly)
 dbSNP gnomAD v4
1g.97549600T>GCA341377495DPYDc.1484A>C (p.Asp495Ala)
c.1373A>C (p.Asp458Ala)
c.989A>C (p.Asp330Ala)
1g.97549600T=CA1141231464DPYDc.1484A= (p.Asp495=)
c.1373A= (p.Asp458=)
c.989A= (p.Asp330=)
1g.97549601C>ACA341377497DPYDc.1483G>T (p.Asp495Tyr)
c.1372G>T (p.Asp458Tyr)
c.988G>T (p.Asp330Tyr)
1g.97549601C=CA1182917400DPYDc.1483G= (p.Asp495=)
c.1372G= (p.Asp458=)
c.988G= (p.Asp330=)
1g.97549601C>GCA341377499DPYDc.1483G>C (p.Asp495His)
c.1372G>C (p.Asp458His)
c.988G>C (p.Asp330His)
1g.97549601C>TCA341377498DPYDc.1483G>A (p.Asp495Asn)
c.1372G>A (p.Asp458Asn)
c.988G>A (p.Asp330Asn)
 dbSNP COSMIC
1g.97549602A>CCA341377501DPYDc.1482T>G (p.Asn494Lys)
c.1371T>G (p.Asn457Lys)
c.987T>G (p.Asn329Lys)
1g.97549602A>GCA419145243DPYDc.1482T>C (p.Asn494=)
c.1371T>C (p.Asn457=)
c.987T>C (p.Asn329=)
1g.97549602A>TCA341377502DPYDc.1482T>A (p.Asn494Lys)
c.1371T>A (p.Asn457Lys)
c.987T>A (p.Asn329Lys)
1g.97549603T>ACA341377504DPYDc.1481A>T (p.Asn494Ile)
c.1370A>T (p.Asn457Ile)
c.986A>T (p.Asn329Ile)
1g.97549603T>CCA963338DPYDc.1481A>G (p.Asn494Ser)
c.1370A>G (p.Asn457Ser)
c.986A>G (p.Asn329Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549603T>GCA341377506DPYDc.1481A>C (p.Asn494Thr)
c.1370A>C (p.Asn457Thr)
c.986A>C (p.Asn329Thr)
1g.97549603T=CA1182917401DPYDc.1481A= (p.Asn494=)
c.1370A= (p.Asn457=)
c.986A= (p.Asn329=)
1g.97549604T>ACA341377507DPYDc.1480A>T (p.Asn494Tyr)
c.1369A>T (p.Asn457Tyr)
c.985A>T (p.Asn329Tyr)
1g.97549604T>CCA341377509DPYDc.1480A>G (p.Asn494Asp)
c.1369A>G (p.Asn457Asp)
c.985A>G (p.Asn329Asp)
1g.97549604T>GCA341377511DPYDc.1480A>C (p.Asn494His)
c.1369A>C (p.Asn457His)
c.985A>C (p.Asn329His)
1g.97549605C>ACA419145247DPYDc.1479G>T (p.Val493=)
c.1368G>T (p.Val456=)
c.984G>T (p.Val328=)
1g.97549605C=CA1182917402DPYDc.1479G= (p.Val493=)
c.1368G= (p.Val456=)
c.984G= (p.Val328=)
1g.97549605C>GCA419145248DPYDc.1479G>C (p.Val493=)
c.1368G>C (p.Val456=)
c.984G>C (p.Val328=)
1g.97549605C>TCA419145249DPYDc.1479G>A (p.Val493=)
c.1368G>A (p.Val456=)
c.984G>A (p.Val328=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.97549606A>CCA341377514DPYDc.1478T>G (p.Val493Gly)
c.1367T>G (p.Val456Gly)
c.983T>G (p.Val328Gly)
1g.97549606A>GCA341377516DPYDc.1478T>C (p.Val493Ala)
c.1367T>C (p.Val456Ala)
c.983T>C (p.Val328Ala)
 gnomAD v4
1g.97549606A>TCA341377518DPYDc.1478T>A (p.Val493Glu)
c.1367T>A (p.Val456Glu)
c.983T>A (p.Val328Glu)
1g.97549607C>ACA341377523DPYDc.1477G>T (p.Val493Leu)
c.1366G>T (p.Val456Leu)
c.982G>T (p.Val328Leu)
1g.97549607C=CA1182917403DPYDc.1477G= (p.Val493=)
c.1366G= (p.Val456=)
c.982G= (p.Val328=)
1g.97549607C>GCA341377531DPYDc.1477G>C (p.Val493Leu)
c.1366G>C (p.Val456Leu)
c.982G>C (p.Val328Leu)
1g.97549607C>TCA341377526DPYDc.1477G>A (p.Val493Met)
c.1366G>A (p.Val456Met)
c.982G>A (p.Val328Met)
 dbSNP gnomAD v2 gnomAD v4
1g.97549608delCA2744701770DPYDc.1477del (p.Val493Ter)
c.1366del (p.Val456Ter)
c.982del (p.Val328Ter)
1g.97549608C>ACA419145251DPYDc.1476G>T (p.Ser492=)
c.1365G>T (p.Ser455=)
c.981G>T (p.Ser327=)
1g.97549608C=CA1182917404DPYDc.1476G= (p.Ser492=)
c.1365G= (p.Ser455=)
c.981G= (p.Ser327=)
1g.97549608C>GCA419145253DPYDc.1476G>C (p.Ser492=)
c.1365G>C (p.Ser455=)
c.981G>C (p.Ser327=)
1g.97549608C>TCA963339DPYDc.1476G>A (p.Ser492=)
c.1365G>A (p.Ser455=)
c.981G>A (p.Ser327=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549609G>ACA963340DPYDc.1475C>T (p.Ser492Leu)
c.1364C>T (p.Ser455Leu)
c.980C>T (p.Ser327Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97549609G>CCA341377534DPYDc.1475C>G (p.Ser492Trp)
c.1364C>G (p.Ser455Trp)
c.980C>G (p.Ser327Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.97549609G=CA1140803050DPYDc.1475C= (p.Ser492=)
c.1364C= (p.Ser455=)
c.980C= (p.Ser327=)
1g.97549609G>TCA341377536DPYDc.1475C>A (p.Ser492Ter)
c.1364C>A (p.Ser455Ter)
c.980C>A (p.Ser327Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.97549610A>CCA341377538DPYDc.1474T>G (p.Ser492Ala)
c.1363T>G (p.Ser455Ala)
c.979T>G (p.Ser327Ala)
 gnomAD v4
1g.97549610A>GCA341377540DPYDc.1474T>C (p.Ser492Pro)
c.1363T>C (p.Ser455Pro)
c.979T>C (p.Ser327Pro)
1g.97549610A>TCA341377542DPYDc.1474T>A (p.Ser492Thr)
c.1363T>A (p.Ser455Thr)
c.979T>A (p.Ser327Thr)
1g.97549611T>ACA341377543DPYDc.1473A>T (p.Glu491Asp)
c.1362A>T (p.Glu454Asp)
c.978A>T (p.Glu326Asp)
1g.97549611T>CCA419145255DPYDc.1473A>G (p.Glu491=)
c.1362A>G (p.Glu454=)
c.978A>G (p.Glu326=)
 dbSNP
1g.97549611T>GCA27517953DPYDc.1473A>C (p.Glu491Asp)
c.1362A>C (p.Glu454Asp)
c.978A>C (p.Glu326Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.97549611T=CA1182917405DPYDc.1473A= (p.Glu491=)
c.1362A= (p.Glu454=)
c.978A= (p.Glu326=)
1g.97549612T>ACA341377544DPYDc.1472A>T (p.Glu491Val)
c.1361A>T (p.Glu454Val)
c.977A>T (p.Glu326Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.97549612T>CCA341377545DPYDc.1472A>G (p.Glu491Gly)
c.1361A>G (p.Glu454Gly)
c.977A>G (p.Glu326Gly)
 gnomAD v4
1g.97549612T>GCA341377547DPYDc.1472A>C (p.Glu491Ala)
c.1361A>C (p.Glu454Ala)
c.977A>C (p.Glu326Ala)
1g.97549612T=CA1182917406DPYDc.1472A= (p.Glu491=)
c.1361A= (p.Glu454=)
c.977A= (p.Glu326=)
1g.97549613C>ACA341377550DPYDc.1471G>T (p.Glu491Ter)
c.1360G>T (p.Glu454Ter)
c.976G>T (p.Glu326Ter)
1g.97549613C>GCA341377551DPYDc.1471G>C (p.Glu491Gln)
c.1360G>C (p.Glu454Gln)
c.976G>C (p.Glu326Gln)
1g.97549613C>TCA341377553DPYDc.1471G>A (p.Glu491Lys)
c.1360G>A (p.Glu454Lys)
c.976G>A (p.Glu326Lys)
 gnomAD v4
1g.97549614C>ACA419145258DPYDc.1470G>T (p.Val490=)
c.1359G>T (p.Val453=)
c.975G>T (p.Val325=)
1g.97549614C=CA1182917407DPYDc.1470G= (p.Val490=)
c.1359G= (p.Val453=)
c.975G= (p.Val325=)
1g.97549614C>GCA419145260DPYDc.1470G>C (p.Val490=)
c.1359G>C (p.Val453=)
c.975G>C (p.Val325=)
1g.97549614C>TCA419145261DPYDc.1470G>A (p.Val490=)
c.1359G>A (p.Val453=)
c.975G>A (p.Val325=)
 dbSNP
1g.97549615A=CA1182917408DPYDc.1469T= (p.Val490=)
c.1358T= (p.Val453=)
c.974T= (p.Val325=)
1g.97549615A>CCA341377562DPYDc.1469T>G (p.Val490Gly)
c.1358T>G (p.Val453Gly)
c.974T>G (p.Val325Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.97549615A>GCA341377560DPYDc.1469T>C (p.Val490Ala)
c.1358T>C (p.Val453Ala)
c.974T>C (p.Val325Ala)
1g.97549615A>TCA341377558DPYDc.1469T>A (p.Val490Glu)
c.1358T>A (p.Val453Glu)
c.974T>A (p.Val325Glu)
1g.97549616C>ACA341377563DPYDc.1468G>T (p.Val490Leu)
c.1357G>T (p.Val453Leu)
c.973G>T (p.Val325Leu)
1g.97549616C>GCA341377565DPYDc.1468G>C (p.Val490Leu)
c.1357G>C (p.Val453Leu)
c.973G>C (p.Val325Leu)
1g.97549616C>TCA341377567DPYDc.1468G>A (p.Val490Met)
c.1357G>A (p.Val453Met)
c.973G>A (p.Val325Met)
1g.97549617T>ACA419145263DPYDc.1467A>T (p.Thr489=)
c.1356A>T (p.Thr452=)
c.972A>T (p.Thr324=)
1g.97549617T>CCA419145264DPYDc.1467A>G (p.Thr489=)
c.1356A>G (p.Thr452=)
c.972A>G (p.Thr324=)
1g.97549617T>GCA419145262DPYDc.1467A>C (p.Thr489=)
c.1356A>C (p.Thr452=)
c.972A>C (p.Thr324=)
1g.97549618G>ACA341377569DPYDc.1466C>T (p.Thr489Ile)
c.1355C>T (p.Thr452Ile)
c.971C>T (p.Thr324Ile)
1g.97549618G>CCA341377571DPYDc.1466C>G (p.Thr489Arg)
c.1355C>G (p.Thr452Arg)
c.971C>G (p.Thr324Arg)
1g.97549618G>TCA341377574DPYDc.1466C>A (p.Thr489Lys)
c.1355C>A (p.Thr452Lys)
c.971C>A (p.Thr324Lys)
1g.97549619T>ACA341377576DPYDc.1465A>T (p.Thr489Ser)
c.1354A>T (p.Thr452Ser)
c.970A>T (p.Thr324Ser)
1g.97549619T>CCA963341DPYDc.1465A>G (p.Thr489Ala)
c.1354A>G (p.Thr452Ala)
c.970A>G (p.Thr324Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549619T>GCA341377579DPYDc.1465A>C (p.Thr489Pro)
c.1354A>C (p.Thr452Pro)
c.970A>C (p.Thr324Pro)
1g.97549619T=CA1182917409DPYDc.1465A= (p.Thr489=)
c.1354A= (p.Thr452=)
c.970A= (p.Thr324=)
1g.97549620A=CA1182917410DPYDc.1464T= (p.Thr488=)
c.1353T= (p.Thr451=)
c.969T= (p.Thr323=)
1g.97549620A>CCA419145266DPYDc.1464T>G (p.Thr488=)
c.1353T>G (p.Thr451=)
c.969T>G (p.Thr323=)
1g.97549620A>GCA419145268DPYDc.1464T>C (p.Thr488=)
c.1353T>C (p.Thr451=)
c.969T>C (p.Thr323=)
1g.97549620A>TCA419145270DPYDc.1464T>A (p.Thr488=)
c.1353T>A (p.Thr451=)
c.969T>A (p.Thr323=)
 dbSNP gnomAD v2 gnomAD v4
1g.97549621delCA2646706232DPYDc.1463del (p.Thr488IlefsTer6)
c.1352del (p.Thr451IlefsTer6)
c.968del (p.Thr323IlefsTer6)
 gnomAD v4
1g.97549621G>ACA341377581DPYDc.1463C>T (p.Thr488Ile)
c.1352C>T (p.Thr451Ile)
c.968C>T (p.Thr323Ile)
 dbSNP
1g.97549621G>CCA341377583DPYDc.1463C>G (p.Thr488Ser)
c.1352C>G (p.Thr451Ser)
c.968C>G (p.Thr323Ser)
1g.97549621G=CA1182917411DPYDc.1463C= (p.Thr488=)
c.1352C= (p.Thr451=)
c.968C= (p.Thr323=)
1g.97549621G>TCA341377585DPYDc.1463C>A (p.Thr488Asn)
c.1352C>A (p.Thr451Asn)
c.968C>A (p.Thr323Asn)
1g.97549622T>ACA341377590DPYDc.1462A>T (p.Thr488Ser)
c.1351A>T (p.Thr451Ser)
c.967A>T (p.Thr323Ser)
1g.97549622T>CCA341377591DPYDc.1462A>G (p.Thr488Ala)
c.1351A>G (p.Thr451Ala)
c.967A>G (p.Thr323Ala)
 dbSNP
1g.97549622T>GCA341377588DPYDc.1462A>C (p.Thr488Pro)
c.1351A>C (p.Thr451Pro)
c.967A>C (p.Thr323Pro)
1g.97549622T=CA1182917412DPYDc.1462A= (p.Thr488=)
c.1351A= (p.Thr451=)
c.967A= (p.Thr323=)
1g.97549623G>ACA27517981DPYDc.1461C>T (p.Asn487=)
c.1350C>T (p.Asn450=)
c.966C>T (p.Asn322=)
 dbSNP
1g.97549623G>CCA341377594DPYDc.1461C>G (p.Asn487Lys)
c.1350C>G (p.Asn450Lys)
c.966C>G (p.Asn322Lys)
1g.97549623G=CA1182917413DPYDc.1461C= (p.Asn487=)
c.1350C= (p.Asn450=)
c.966C= (p.Asn322=)
1g.97549623G>TCA341377596DPYDc.1461C>A (p.Asn487Lys)
c.1350C>A (p.Asn450Lys)
c.966C>A (p.Asn322Lys)
1g.97549624T>ACA341377598DPYDc.1460A>T (p.Asn487Ile)
c.1349A>T (p.Asn450Ile)
c.965A>T (p.Asn322Ile)
1g.97549624T>CCA341377600DPYDc.1460A>G (p.Asn487Ser)
c.1349A>G (p.Asn450Ser)
c.965A>G (p.Asn322Ser)
1g.97549624T>GCA341377602DPYDc.1460A>C (p.Asn487Thr)
c.1349A>C (p.Asn450Thr)
c.965A>C (p.Asn322Thr)
1g.97549625T>ACA341377606DPYDc.1459A>T (p.Asn487Tyr)
c.1348A>T (p.Asn450Tyr)
c.964A>T (p.Asn322Tyr)
1g.97549625T>CCA27517982DPYDc.1459A>G (p.Asn487Asp)
c.1348A>G (p.Asn450Asp)
c.964A>G (p.Asn322Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549625T>GCA341377603DPYDc.1459A>C (p.Asn487His)
c.1348A>C (p.Asn450His)
c.964A>C (p.Asn322His)
1g.97549625T=CA1182917414DPYDc.1459A= (p.Asn487=)
c.1348A= (p.Asn450=)
c.964A= (p.Asn322=)
1g.97549626A>CCA419145272DPYDc.1458T>G (p.Ala486=)
c.1347T>G (p.Ala449=)
c.963T>G (p.Ala321=)
1g.97549626A>GCA419145273DPYDc.1458T>C (p.Ala486=)
c.1347T>C (p.Ala449=)
c.963T>C (p.Ala321=)
1g.97549626A>TCA419145275DPYDc.1458T>A (p.Ala486=)
c.1347T>A (p.Ala449=)
c.963T>A (p.Ala321=)
 gnomAD v4
1g.97549627G>ACA341377608DPYDc.1457C>T (p.Ala486Val)
c.1346C>T (p.Ala449Val)
c.962C>T (p.Ala321Val)
1g.97549627G>CCA341377611DPYDc.1457C>G (p.Ala486Gly)
c.1346C>G (p.Ala449Gly)
c.962C>G (p.Ala321Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.97549627G=CA1182917415DPYDc.1457C= (p.Ala486=)
c.1346C= (p.Ala449=)
c.962C= (p.Ala321=)
1g.97549627G>TCA341377612DPYDc.1457C>A (p.Ala486Asp)
c.1346C>A (p.Ala449Asp)
c.962C>A (p.Ala321Asp)
1g.97549628C>ACA341377613DPYDc.1456G>T (p.Ala486Ser)
c.1345G>T (p.Ala449Ser)
c.961G>T (p.Ala321Ser)
1g.97549628C=CA1148441014DPYDc.1456G= (p.Ala486=)
c.1345G= (p.Ala449=)
c.961G= (p.Ala321=)
1g.97549628C>GCA341377614DPYDc.1456G>C (p.Ala486Pro)
c.1345G>C (p.Ala449Pro)
c.961G>C (p.Ala321Pro)
1g.97549628C>TCA963342DPYDc.1456G>A (p.Ala486Thr)
c.1345G>A (p.Ala449Thr)
c.961G>A (p.Ala321Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549629C>ACA341377617DPYDc.1455G>T (p.Leu485Phe)
c.1344G>T (p.Leu448Phe)
c.960G>T (p.Leu320Phe)
 COSMIC
1g.97549629C=CA1146730970DPYDc.1455G= (p.Leu485=)
c.1344G= (p.Leu448=)
c.960G= (p.Leu320=)
1g.97549629C>GCA341377620DPYDc.1455G>C (p.Leu485Phe)
c.1344G>C (p.Leu448Phe)
c.960G>C (p.Leu320Phe)
1g.97549629C>TCA27517991DPYDc.1455G>A (p.Leu485=)
c.1344G>A (p.Leu448=)
c.960G>A (p.Leu320=)
 dbSNP
1g.97549630A=CA1182917416DPYDc.1454T= (p.Leu485=)
c.1343T= (p.Leu448=)
c.959T= (p.Leu320=)
1g.97549630A>CCA341377623DPYDc.1454T>G (p.Leu485Trp)
c.1343T>G (p.Leu448Trp)
c.959T>G (p.Leu320Trp)
 dbSNP
1g.97549630A>GCA341377625DPYDc.1454T>C (p.Leu485Ser)
c.1343T>C (p.Leu448Ser)
c.959T>C (p.Leu320Ser)
1g.97549630A>TCA341377627DPYDc.1454T>A (p.Leu485Ter)
c.1343T>A (p.Leu448Ter)
c.959T>A (p.Leu320Ter)
1g.97549631A>CCA341377629DPYDc.1453T>G (p.Leu485Val)
c.1342T>G (p.Leu448Val)
c.958T>G (p.Leu320Val)
1g.97549631A>GCA419145282DPYDc.1453T>C (p.Leu485=)
c.1342T>C (p.Leu448=)
c.958T>C (p.Leu320=)
1g.97549631A>TCA341377630DPYDc.1453T>A (p.Leu485Met)
c.1342T>A (p.Leu448Met)
c.958T>A (p.Leu320Met)
1g.97549632A>CCA419145283DPYDc.1452T>G (p.Gly484=)
c.1341T>G (p.Gly447=)
c.957T>G (p.Gly319=)
1g.97549632A>GCA419145285DPYDc.1452T>C (p.Gly484=)
c.1341T>C (p.Gly447=)
c.957T>C (p.Gly319=)
 COSMIC
1g.97549632A>TCA419145286DPYDc.1452T>A (p.Gly484=)
c.1341T>A (p.Gly447=)
c.957T>A (p.Gly319=)
1g.97549633C>ACA341377631DPYDc.1451G>T (p.Gly484Val)
c.1340G>T (p.Gly447Val)
c.956G>T (p.Gly319Val)
1g.97549633C>GCA341377634DPYDc.1451G>C (p.Gly484Ala)
c.1340G>C (p.Gly447Ala)
c.956G>C (p.Gly319Ala)
1g.97549633C>TCA341377635DPYDc.1451G>A (p.Gly484Asp)
c.1340G>A (p.Gly447Asp)
c.956G>A (p.Gly319Asp)
 gnomAD v4
1g.97549634C>ACA341377638DPYDc.1450G>T (p.Gly484Cys)
c.1339G>T (p.Gly447Cys)
c.955G>T (p.Gly319Cys)
1g.97549634C>GCA341377640DPYDc.1450G>C (p.Gly484Arg)
c.1339G>C (p.Gly447Arg)
c.955G>C (p.Gly319Arg)
1g.97549634C>TCA341377642DPYDc.1450G>A (p.Gly484Ser)
c.1339G>A (p.Gly447Ser)
c.955G>A (p.Gly319Ser)
1g.97549635A>CCA419145289DPYDc.1449T>G (p.Val483=)
c.1338T>G (p.Val446=)
c.954T>G (p.Val318=)
1g.97549635A>GCA419145290DPYDc.1449T>C (p.Val483=)
c.1338T>C (p.Val446=)
c.954T>C (p.Val318=)
1g.97549635A>TCA419145291DPYDc.1449T>A (p.Val483=)
c.1338T>A (p.Val446=)
c.954T>A (p.Val318=)
1g.97549636A=CA1182917417DPYDc.1448T= (p.Val483=)
c.1337T= (p.Val446=)
c.953T= (p.Val318=)
1g.97549636A>CCA341377648DPYDc.1448T>G (p.Val483Gly)
c.1337T>G (p.Val446Gly)
c.953T>G (p.Val318Gly)
1g.97549636A>GCA341377646DPYDc.1448T>C (p.Val483Ala)
c.1337T>C (p.Val446Ala)
c.953T>C (p.Val318Ala)
 dbSNP
1g.97549636A>TCA341377644DPYDc.1448T>A (p.Val483Asp)
c.1337T>A (p.Val446Asp)
c.953T>A (p.Val318Asp)
1g.97549638_97549640delCA2574442272DPYDc.1446_1448del (p.Val483del)
c.1335_1337del (p.Val446del)
c.951_953del (p.Val318del)
1g.97549637C>ACA341377650DPYDc.1447G>T (p.Val483Phe)
c.1336G>T (p.Val446Phe)
c.952G>T (p.Val318Phe)
1g.97549637C=CA1141805256DPYDc.1447G= (p.Val483=)
c.1336G= (p.Val446=)
c.952G= (p.Val318=)
1g.97549637C>GCA341377651DPYDc.1447G>C (p.Val483Leu)
c.1336G>C (p.Val446Leu)
c.952G>C (p.Val318Leu)
1g.97549637C>TCA963343DPYDc.1447G>A (p.Val483Ile)
c.1336G>A (p.Val446Ile)
c.952G>A (p.Val318Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97549638G>ACA963344DPYDc.1446C>T (p.Val482=)
c.1335C>T (p.Val445=)
c.951C>T (p.Val317=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549638G>CCA419145297DPYDc.1446C>G (p.Val482=)
c.1335C>G (p.Val445=)
c.951C>G (p.Val317=)
 gnomAD v4
1g.97549638G=CA1144128965DPYDc.1446C= (p.Val482=)
c.1335C= (p.Val445=)
c.951C= (p.Val317=)
1g.97549638G>TCA419145295DPYDc.1446C>A (p.Val482=)
c.1335C>A (p.Val445=)
c.951C>A (p.Val317=)
1g.97549639A>CCA341377654DPYDc.1445T>G (p.Val482Gly)
c.1334T>G (p.Val445Gly)
c.950T>G (p.Val317Gly)
1g.97549639A>GCA341377656DPYDc.1445T>C (p.Val482Ala)
c.1334T>C (p.Val445Ala)
c.950T>C (p.Val317Ala)
1g.97549639A>TCA341377658DPYDc.1445T>A (p.Val482Asp)
c.1334T>A (p.Val445Asp)
c.950T>A (p.Val317Asp)
1g.97549640C>ACA341377667DPYDc.1444G>T (p.Val482Phe)
c.1333G>T (p.Val445Phe)
c.949G>T (p.Val317Phe)
1g.97549640C=CA1182917418DPYDc.1444G= (p.Val482=)
c.1333G= (p.Val445=)
c.949G= (p.Val317=)
1g.97549640C>GCA341377664DPYDc.1444G>C (p.Val482Leu)
c.1333G>C (p.Val445Leu)
c.949G>C (p.Val317Leu)
1g.97549640C>TCA341377666DPYDc.1444G>A (p.Val482Ile)
c.1333G>A (p.Val445Ile)
c.949G>A (p.Val317Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549641A>CCA341377670DPYDc.1443T>G (p.Asp481Glu)
c.1332T>G (p.Asp444Glu)
c.948T>G (p.Asp316Glu)
1g.97549641A>GCA419145299DPYDc.1443T>C (p.Asp481=)
c.1332T>C (p.Asp444=)
c.948T>C (p.Asp316=)
1g.97549641A>TCA341377671DPYDc.1443T>A (p.Asp481Glu)
c.1332T>A (p.Asp444Glu)
c.948T>A (p.Asp316Glu)
1g.97549642T>ACA341377677DPYDc.1442A>T (p.Asp481Val)
c.1331A>T (p.Asp444Val)
c.947A>T (p.Asp316Val)
 gnomAD v4
1g.97549642T>CCA341377679DPYDc.1442A>G (p.Asp481Gly)
c.1331A>G (p.Asp444Gly)
c.947A>G (p.Asp316Gly)
1g.97549642T>GCA341377682DPYDc.1442A>C (p.Asp481Ala)
c.1331A>C (p.Asp444Ala)
c.947A>C (p.Asp316Ala)
1g.97549643C>ACA341377684DPYDc.1441G>T (p.Asp481Tyr)
c.1330G>T (p.Asp444Tyr)
c.946G>T (p.Asp316Tyr)
1g.97549643C=CA1182917419DPYDc.1441G= (p.Asp481=)
c.1330G= (p.Asp444=)
c.946G= (p.Asp316=)
1g.97549643C>GCA341377687DPYDc.1441G>C (p.Asp481His)
c.1330G>C (p.Asp444His)
c.946G>C (p.Asp316His)
 dbSNP gnomAD v3 gnomAD v4
1g.97549643C>TCA341377686DPYDc.1441G>A (p.Asp481Asn)
c.1330G>A (p.Asp444Asn)
c.946G>A (p.Asp316Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.97549644A>CCA419145302DPYDc.1440T>G (p.Gly480=)
c.1329T>G (p.Gly443=)
c.945T>G (p.Gly315=)
1g.97549644A>GCA419145303DPYDc.1440T>C (p.Gly480=)
c.1329T>C (p.Gly443=)
c.945T>C (p.Gly315=)
 dbSNP
1g.97549644A>TCA419145304DPYDc.1440T>A (p.Gly480=)
c.1329T>A (p.Gly443=)
c.945T>A (p.Gly315=)
1g.97549645C>ACA341377688DPYDc.1439G>T (p.Gly480Val)
c.1328G>T (p.Gly443Val)
c.944G>T (p.Gly315Val)
1g.97549645C>GCA341377690DPYDc.1439G>C (p.Gly480Ala)
c.1328G>C (p.Gly443Ala)
c.944G>C (p.Gly315Ala)
1g.97549645C>TCA341377692DPYDc.1439G>A (p.Gly480Asp)
c.1328G>A (p.Gly443Asp)
c.944G>A (p.Gly315Asp)
 gnomAD v4
1g.97549646C>ACA341377694DPYDc.1438G>T (p.Gly480Cys)
c.1327G>T (p.Gly443Cys)
c.943G>T (p.Gly315Cys)
1g.97549646C=CA1148271253DPYDc.1438G= (p.Gly480=)
c.1327G= (p.Gly443=)
c.943G= (p.Gly315=)
1g.97549646C>GCA341377696DPYDc.1438G>C (p.Gly480Arg)
c.1327G>C (p.Gly443Arg)
c.943G>C (p.Gly315Arg)
1g.97549646C>TCA963345DPYDc.1438G>A (p.Gly480Ser)
c.1327G>A (p.Gly443Ser)
c.943G>A (p.Gly315Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549647A=CA1182917420DPYDc.1437T= (p.Gly479=)
c.1326T= (p.Gly442=)
c.942T= (p.Gly314=)
1g.97549647A>CCA419145305DPYDc.1437T>G (p.Gly479=)
c.1326T>G (p.Gly442=)
c.942T>G (p.Gly314=)
 COSMIC
1g.97549647A>GCA419145306DPYDc.1437T>C (p.Gly479=)
c.1326T>C (p.Gly442=)
c.942T>C (p.Gly314=)
 dbSNP gnomAD v3 gnomAD v4
1g.97549647A>TCA419145307DPYDc.1437T>A (p.Gly479=)
c.1326T>A (p.Gly442=)
c.942T>A (p.Gly314=)
1g.97549648C>ACA341377704DPYDc.1436G>T (p.Gly479Val)
c.1325G>T (p.Gly442Val)
c.941G>T (p.Gly314Val)
1g.97549648C=CA1182917421DPYDc.1436G= (p.Gly479=)
c.1325G= (p.Gly442=)
c.941G= (p.Gly314=)
1g.97549648C>GCA341377705DPYDc.1436G>C (p.Gly479Ala)
c.1325G>C (p.Gly442Ala)
c.941G>C (p.Gly314Ala)
1g.97549648C>TCA341377707DPYDc.1436G>A (p.Gly479Asp)
c.1325G>A (p.Gly442Asp)
c.941G>A (p.Gly314Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.97549649C>ACA341377708DPYDc.1435G>T (p.Gly479Cys)
c.1324G>T (p.Gly442Cys)
c.940G>T (p.Gly314Cys)
1g.97549649C=CA1182917422DPYDc.1435G= (p.Gly479=)
c.1324G= (p.Gly442=)
c.940G= (p.Gly314=)
1g.97549649C>GCA341377710DPYDc.1435G>C (p.Gly479Arg)
c.1324G>C (p.Gly442Arg)
c.940G>C (p.Gly314Arg)
1g.97549649C>TCA341377712DPYDc.1435G>A (p.Gly479Ser)
c.1324G>A (p.Gly442Ser)
c.940G>A (p.Gly314Ser)
 dbSNP gnomAD v4
1g.97549650T>ACA419145311DPYDc.1434A>T (p.Ala478=)
c.1323A>T (p.Ala441=)
c.939A>T (p.Ala313=)
 COSMIC
1g.97549650T>CCA419145312DPYDc.1434A>G (p.Ala478=)
c.1323A>G (p.Ala441=)
c.939A>G (p.Ala313=)
 dbSNP
1g.97549650T>GCA419145313DPYDc.1434A>C (p.Ala478=)
c.1323A>C (p.Ala441=)
c.939A>C (p.Ala313=)
 gnomAD v4
1g.97549650T=CA1182917423DPYDc.1434A= (p.Ala478=)
c.1323A= (p.Ala441=)
c.939A= (p.Ala313=)
1g.97549651G>ACA341377715DPYDc.1433C>T (p.Ala478Val)
c.1322C>T (p.Ala441Val)
c.938C>T (p.Ala313Val)
1g.97549651G>CCA341377720DPYDc.1433C>G (p.Ala478Gly)
c.1322C>G (p.Ala441Gly)
c.938C>G (p.Ala313Gly)
1g.97549651G>TCA341377716DPYDc.1433C>A (p.Ala478Glu)
c.1322C>A (p.Ala441Glu)
c.938C>A (p.Ala313Glu)
1g.97549652C>ACA341377721DPYDc.1432G>T (p.Ala478Ser)
c.1321G>T (p.Ala441Ser)
c.937G>T (p.Ala313Ser)
1g.97549652C=CA1182917424DPYDc.1432G= (p.Ala478=)
c.1321G= (p.Ala441=)
c.937G= (p.Ala313=)
1g.97549652C>GCA341377722DPYDc.1432G>C (p.Ala478Pro)
c.1321G>C (p.Ala441Pro)
c.937G>C (p.Ala313Pro)
 gnomAD v4
1g.97549652C>TCA341377723DPYDc.1432G>A (p.Ala478Thr)
c.1321G>A (p.Ala441Thr)
c.937G>A (p.Ala313Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.97549653A>CCA341377724DPYDc.1431T>G (p.Phe477Leu)
c.1320T>G (p.Phe440Leu)
c.936T>G (p.Phe312Leu)
 gnomAD v4
1g.97549653A>GCA419145315DPYDc.1431T>C (p.Phe477=)
c.1320T>C (p.Phe440=)
c.936T>C (p.Phe312=)
1g.97549653A>TCA341377725DPYDc.1431T>A (p.Phe477Leu)
c.1320T>A (p.Phe440Leu)
c.936T>A (p.Phe312Leu)
1g.97549654_97549655insTAATGGTGCTGATGCGGTCGATTTGTGCAAAAATCAAGCCTTTGACCTCGTGTTGCTCGATGAAACA2526495935DPYDc.1431_1432insTCATCGAGCAACACGAGGTCAAAGGCTTGATTTTTGCACAAATCGACCGCATCAGCACCATTATT (p.Ala478SerfsTer10)
c.1320_1321insTCATCGAGCAACACGAGGTCAAAGGCTTGATTTTTGCACAAATCGACCGCATCAGCACCATTATT (p.Ala441SerfsTer10)
c.936_937insTCATCGAGCAACACGAGGTCAAAGGCTTGATTTTTGCACAAATCGACCGCATCAGCACCATTATT (p.Ala313SerfsTer10)
1g.97549654A>CCA341377726DPYDc.1430T>G (p.Phe477Cys)
c.1319T>G (p.Phe440Cys)
c.935T>G (p.Phe312Cys)
1g.97549654A>GCA341377727DPYDc.1430T>C (p.Phe477Ser)
c.1319T>C (p.Phe440Ser)
c.935T>C (p.Phe312Ser)
1g.97549654A>TCA341377728DPYDc.1430T>A (p.Phe477Tyr)
c.1319T>A (p.Phe440Tyr)
c.935T>A (p.Phe312Tyr)
1g.97549655A>CCA341377729DPYDc.1429T>G (p.Phe477Val)
c.1318T>G (p.Phe440Val)
c.934T>G (p.Phe312Val)
1g.97549655A>GCA341377730DPYDc.1429T>C (p.Phe477Leu)
c.1318T>C (p.Phe440Leu)
c.934T>C (p.Phe312Leu)
1g.97549655A>TCA341377731DPYDc.1429T>A (p.Phe477Ile)
c.1318T>A (p.Phe440Ile)
c.934T>A (p.Phe312Ile)
1g.97549656T>ACA419145318DPYDc.1428A>T (p.Val476=)
c.1317A>T (p.Val439=)
c.933A>T (p.Val311=)
1g.97549656T>CCA419145319DPYDc.1428A>G (p.Val476=)
c.1317A>G (p.Val439=)
c.933A>G (p.Val311=)
 dbSNP gnomAD v4
1g.97549656T>GCA419145320DPYDc.1428A>C (p.Val476=)
c.1317A>C (p.Val439=)
c.933A>C (p.Val311=)
1g.97549656T=CA1182917425DPYDc.1428A= (p.Val476=)
c.1317A= (p.Val439=)
c.933A= (p.Val311=)
1g.97549657A>CCA341377734DPYDc.1427T>G (p.Val476Gly)
c.1316T>G (p.Val439Gly)
c.932T>G (p.Val311Gly)
1g.97549657A>GCA341377733DPYDc.1427T>C (p.Val476Ala)
c.1316T>C (p.Val439Ala)
c.932T>C (p.Val311Ala)
 gnomAD v4
1g.97549657A>TCA341377732DPYDc.1427T>A (p.Val476Glu)
c.1316T>A (p.Val439Glu)
c.932T>A (p.Val311Glu)
1g.97549657_97549658insTGCCCGGCCTCTCTGGTCTCGAAACCCTCTCCGCCATCAAAGACTTGCATCCTGAGATGCA2558027213DPYDc.1426_1427insCATCTCAGGATGCAAGTCTTTGATGGCGGAGAGGGTTTCGAGACCAGAGAGGCCGGGCA (p.Val476AlafsTer8)
c.1315_1316insCATCTCAGGATGCAAGTCTTTGATGGCGGAGAGGGTTTCGAGACCAGAGAGGCCGGGCA (p.Val439AlafsTer8)
c.931_932insCATCTCAGGATGCAAGTCTTTGATGGCGGAGAGGGTTTCGAGACCAGAGAGGCCGGGCA (p.Val311AlafsTer8)
1g.97549658C>ACA341377735DPYDc.1426G>T (p.Val476Leu)
c.1315G>T (p.Val439Leu)
c.931G>T (p.Val311Leu)
 gnomAD v4
1g.97549658C=CA1182917426DPYDc.1426G= (p.Val476=)
c.1315G= (p.Val439=)
c.931G= (p.Val311=)
1g.97549658C>GCA341377736DPYDc.1426G>C (p.Val476Leu)
c.1315G>C (p.Val439Leu)
c.931G>C (p.Val311Leu)
1g.97549658C>TCA341377737DPYDc.1426G>A (p.Val476Ile)
c.1315G>A (p.Val439Ile)
c.931G>A (p.Val311Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.97549659C>ACA341377738DPYDc.1425G>T (p.Trp475Cys)
c.1314G>T (p.Trp438Cys)
c.930G>T (p.Trp310Cys)
1g.97549659C>GCA341377739DPYDc.1425G>C (p.Trp475Cys)
c.1314G>C (p.Trp438Cys)
c.930G>C (p.Trp310Cys)
1g.97549659C>TCA341377740DPYDc.1425G>A (p.Trp475Ter)
c.1314G>A (p.Trp438Ter)
c.930G>A (p.Trp310Ter)
1g.97549660C>ACA341377741DPYDc.1424G>T (p.Trp475Leu)
c.1313G>T (p.Trp438Leu)
c.929G>T (p.Trp310Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.97549660C=CA1182917427DPYDc.1424G= (p.Trp475=)
c.1313G= (p.Trp438=)
c.929G= (p.Trp310=)
1g.97549660C>GCA341377742DPYDc.1424G>C (p.Trp475Ser)
c.1313G>C (p.Trp438Ser)
c.929G>C (p.Trp310Ser)
1g.97549660C>TCA341377743DPYDc.1424G>A (p.Trp475Ter)
c.1313G>A (p.Trp438Ter)
c.929G>A (p.Trp310Ter)
1g.97549661A>CCA341377744DPYDc.1423T>G (p.Trp475Gly)
c.1312T>G (p.Trp438Gly)
c.928T>G (p.Trp310Gly)
1g.97549661A>GCA341377745DPYDc.1423T>C (p.Trp475Arg)
c.1312T>C (p.Trp438Arg)
c.928T>C (p.Trp310Arg)
1g.97549661A>TCA341377746DPYDc.1423T>A (p.Trp475Arg)
c.1312T>A (p.Trp438Arg)
c.928T>A (p.Trp310Arg)
1g.97549662T>ACA419145325DPYDc.1422A>T (p.Ala474=)
c.1311A>T (p.Ala437=)
c.927A>T (p.Ala309=)
1g.97549662T>CCA419145324DPYDc.1422A>G (p.Ala474=)
c.1311A>G (p.Ala437=)
c.927A>G (p.Ala309=)
 gnomAD v4
1g.97549662T>GCA419145323DPYDc.1422A>C (p.Ala474=)
c.1311A>C (p.Ala437=)
c.927A>C (p.Ala309=)
1g.97549663G>ACA341377747DPYDc.1421C>T (p.Ala474Val)
c.1310C>T (p.Ala437Val)
c.926C>T (p.Ala309Val)
1g.97549663G>CCA341377749DPYDc.1421C>G (p.Ala474Gly)
c.1310C>G (p.Ala437Gly)
c.926C>G (p.Ala309Gly)
1g.97549663G>TCA341377748DPYDc.1421C>A (p.Ala474Glu)
c.1310C>A (p.Ala437Glu)
c.926C>A (p.Ala309Glu)
1g.97549664C>ACA341377750DPYDc.1420G>T (p.Ala474Ser)
c.1309G>T (p.Ala437Ser)
c.925G>T (p.Ala309Ser)
1g.97549664C>GCA341377752DPYDc.1420G>C (p.Ala474Pro)
c.1309G>C (p.Ala437Pro)
c.925G>C (p.Ala309Pro)
1g.97549664C>TCA341377751DPYDc.1420G>A (p.Ala474Thr)
c.1309G>A (p.Ala437Thr)
c.925G>A (p.Ala309Thr)
1g.97549665T>ACA341377753DPYDc.1419A>T (p.Glu473Asp)
c.1308A>T (p.Glu436Asp)
c.924A>T (p.Glu308Asp)
1g.97549665T>CCA419145329DPYDc.1419A>G (p.Glu473=)
c.1308A>G (p.Glu436=)
c.924A>G (p.Glu308=)
 gnomAD v4
1g.97549665T>GCA341377754DPYDc.1419A>C (p.Glu473Asp)
c.1308A>C (p.Glu436Asp)
c.924A>C (p.Glu308Asp)
1g.97549666T>ACA341377755DPYDc.1418A>T (p.Glu473Val)
c.1307A>T (p.Glu436Val)
c.923A>T (p.Glu308Val)
1g.97549666T>CCA341377756DPYDc.1418A>G (p.Glu473Gly)
c.1307A>G (p.Glu436Gly)
c.923A>G (p.Glu308Gly)
1g.97549666T>GCA341377757DPYDc.1418A>C (p.Glu473Ala)
c.1307A>C (p.Glu436Ala)
c.923A>C (p.Glu308Ala)
1g.97549667C>ACA341377759DPYDc.1417G>T (p.Glu473Ter)
c.1306G>T (p.Glu436Ter)
c.922G>T (p.Glu308Ter)
1g.97549667C>GCA341377760DPYDc.1417G>C (p.Glu473Gln)
c.1306G>C (p.Glu436Gln)
c.922G>C (p.Glu308Gln)
1g.97549667C>TCA341377761DPYDc.1417G>A (p.Glu473Lys)
c.1306G>A (p.Glu436Lys)
c.922G>A (p.Glu308Lys)
1g.97549668A=CA1182917428DPYDc.1416T= (p.Ser472=)
c.1305T= (p.Ser435=)
c.921T= (p.Ser307=)
1g.97549668A>CCA341377762DPYDc.1416T>G (p.Ser472Arg)
c.1305T>G (p.Ser435Arg)
c.921T>G (p.Ser307Arg)
 gnomAD v4
1g.97549668A>GCA963346DPYDc.1416T>C (p.Ser472=)
c.1305T>C (p.Ser435=)
c.921T>C (p.Ser307=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549668A>TCA341377763DPYDc.1416T>A (p.Ser472Arg)
c.1305T>A (p.Ser435Arg)
c.921T>A (p.Ser307Arg)
 gnomAD v4
1g.97549669C>ACA341377764DPYDc.1415G>T (p.Ser472Ile)
c.1304G>T (p.Ser435Ile)
c.920G>T (p.Ser307Ile)
1g.97549669C=CA1182917429DPYDc.1415G= (p.Ser472=)
c.1304G= (p.Ser435=)
c.920G= (p.Ser307=)
1g.97549669C>GCA341377765DPYDc.1415G>C (p.Ser472Thr)
c.1304G>C (p.Ser435Thr)
c.920G>C (p.Ser307Thr)
 gnomAD v4
1g.97549669C>TCA963347DPYDc.1415G>A (p.Ser472Asn)
c.1304G>A (p.Ser435Asn)
c.920G>A (p.Ser307Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549670T>ACA341377768DPYDc.1414A>T (p.Ser472Cys)
c.1303A>T (p.Ser435Cys)
c.919A>T (p.Ser307Cys)
1g.97549670T>CCA341377767DPYDc.1414A>G (p.Ser472Gly)
c.1303A>G (p.Ser435Gly)
c.919A>G (p.Ser307Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.97549670T>GCA341377766DPYDc.1414A>C (p.Ser472Arg)
c.1303A>C (p.Ser435Arg)
c.919A>C (p.Ser307Arg)
1g.97549670T=CA1182917430DPYDc.1414A= (p.Ser472=)
c.1303A= (p.Ser435=)
c.919A= (p.Ser307=)
1g.97549671A>CCA419145334DPYDc.1413T>G (p.Thr471=)
c.1302T>G (p.Thr434=)
c.918T>G (p.Thr306=)
1g.97549671A>GCA419145336DPYDc.1413T>C (p.Thr471=)
c.1302T>C (p.Thr434=)
c.918T>C (p.Thr306=)
1g.97549671A>TCA419145337DPYDc.1413T>A (p.Thr471=)
c.1302T>A (p.Thr434=)
c.918T>A (p.Thr306=)
1g.97549671_97549672dupCA525177690DPYDc.1412_1413dup (p.Ser472LeufsTer23)
c.1301_1302dup (p.Ser435LeufsTer23)
c.917_918dup (p.Ser307LeufsTer23)
 dbSNP gnomAD v2 gnomAD v4
1g.97549672G>ACA341377769DPYDc.1412C>T (p.Thr471Ile)
c.1301C>T (p.Thr434Ile)
c.917C>T (p.Thr306Ile)
1g.97549672G>CCA341377770DPYDc.1412C>G (p.Thr471Ser)
c.1301C>G (p.Thr434Ser)
c.917C>G (p.Thr306Ser)
 dbSNP COSMIC
1g.97549672G=CA1182917431DPYDc.1412C= (p.Thr471=)
c.1301C= (p.Thr434=)
c.917C= (p.Thr306=)
1g.97549672G>TCA341377771DPYDc.1412C>A (p.Thr471Asn)
c.1301C>A (p.Thr434Asn)
c.917C>A (p.Thr306Asn)
1g.97549673T>ACA341377772DPYDc.1411A>T (p.Thr471Ser)
c.1300A>T (p.Thr434Ser)
c.916A>T (p.Thr306Ser)
1g.97549673T>CCA341377773DPYDc.1411A>G (p.Thr471Ala)
c.1300A>G (p.Thr434Ala)
c.916A>G (p.Thr306Ala)
1g.97549673T>GCA341377774DPYDc.1411A>C (p.Thr471Pro)
c.1300A>C (p.Thr434Pro)
c.916A>C (p.Thr306Pro)
1g.97549674T>ACA341377775DPYDc.1410A>T (p.Gln470His)
c.1299A>T (p.Gln433His)
c.915A>T (p.Gln305His)
1g.97549674T>CCA419145343DPYDc.1410A>G (p.Gln470=)
c.1299A>G (p.Gln433=)
c.915A>G (p.Gln305=)
 dbSNP gnomAD v2 gnomAD v4
1g.97549674T>GCA341377776DPYDc.1410A>C (p.Gln470His)
c.1299A>C (p.Gln433His)
c.915A>C (p.Gln305His)
1g.97549674T=CA1182917432DPYDc.1410A= (p.Gln470=)
c.1299A= (p.Gln433=)
c.915A= (p.Gln305=)
1g.97549675T>ACA341377777DPYDc.1409A>T (p.Gln470Leu)
c.1298A>T (p.Gln433Leu)
c.914A>T (p.Gln305Leu)
1g.97549675T>CCA341377778DPYDc.1409A>G (p.Gln470Arg)
c.1298A>G (p.Gln433Arg)
c.914A>G (p.Gln305Arg)
1g.97549675T>GCA341377779DPYDc.1409A>C (p.Gln470Pro)
c.1298A>C (p.Gln433Pro)
c.914A>C (p.Gln305Pro)
1g.97549676G>ACA341377780DPYDc.1408C>T (p.Gln470Ter)
c.1297C>T (p.Gln433Ter)
c.913C>T (p.Gln305Ter)
 ClinVar
1g.97549676G>CCA341377781DPYDc.1408C>G (p.Gln470Glu)
c.1297C>G (p.Gln433Glu)
c.913C>G (p.Gln305Glu)
1g.97549676G>TCA341377782DPYDc.1408C>A (p.Gln470Lys)
c.1297C>A (p.Gln433Lys)
c.913C>A (p.Gln305Lys)
1g.97549677C>ACA341377784DPYDc.1407G>T (p.Met469Ile)
c.1296G>T (p.Met432Ile)
c.912G>T (p.Met304Ile)
1g.97549677C=CA1182917433DPYDc.1407G= (p.Met469=)
c.1296G= (p.Met432=)
c.912G= (p.Met304=)
1g.97549677C>GCA341377785DPYDc.1407G>C (p.Met469Ile)
c.1296G>C (p.Met432Ile)
c.912G>C (p.Met304Ile)
1g.97549677C>TCA341377783DPYDc.1407G>A (p.Met469Ile)
c.1296G>A (p.Met432Ile)
c.912G>A (p.Met304Ile)
 dbSNP
1g.97549678A=CA1182917434DPYDc.1406T= (p.Met469=)
c.1295T= (p.Met432=)
c.911T= (p.Met304=)
1g.97549678A>CCA341377786DPYDc.1406T>G (p.Met469Arg)
c.1295T>G (p.Met432Arg)
c.911T>G (p.Met304Arg)
1g.97549678A>GCA963348DPYDc.1406T>C (p.Met469Thr)
c.1295T>C (p.Met432Thr)
c.911T>C (p.Met304Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549678A>TCA341377787DPYDc.1406T>A (p.Met469Lys)
c.1295T>A (p.Met432Lys)
c.911T>A (p.Met304Lys)
1g.97549679T>ACA341377788DPYDc.1405A>T (p.Met469Leu)
c.1294A>T (p.Met432Leu)
c.910A>T (p.Met304Leu)
 ClinVar gnomAD v4
1g.97549679T>CCA341377789DPYDc.1405A>G (p.Met469Val)
c.1294A>G (p.Met432Val)
c.910A>G (p.Met304Val)
 gnomAD v4
1g.97549679T>GCA341377790DPYDc.1405A>C (p.Met469Leu)
c.1294A>C (p.Met432Leu)
c.910A>C (p.Met304Leu)
1g.97549680A=CA1182917435DPYDc.1404T= (p.Thr468=)
c.1293T= (p.Thr431=)
c.909T= (p.Thr303=)
1g.97549680A>CCA419145346DPYDc.1404T>G (p.Thr468=)
c.1293T>G (p.Thr431=)
c.909T>G (p.Thr303=)
1g.97549680A>GCA419145347DPYDc.1404T>C (p.Thr468=)
c.1293T>C (p.Thr431=)
c.909T>C (p.Thr303=)
 dbSNP gnomAD v3 gnomAD v4
1g.97549680A>TCA419145348DPYDc.1404T>A (p.Thr468=)
c.1293T>A (p.Thr431=)
c.909T>A (p.Thr303=)

Number of alleles fetched