Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18785755dupCA2842543153COMPc.1587dup (p.Asp530ArgfsTer15)
c.1428dup (p.Asp477ArgfsTer15)
c.1488dup (p.Asp497ArgfsTer15)
19g.18785755G>ACA343855COMPc.1586C>T (p.Thr529Ile)
c.1427C>T (p.Thr476Ile)
c.1487C>T (p.Thr496Ile)
 ClinVar dbSNP
19g.18785755G>CCA404883039COMPc.1586C>G (p.Thr529Ser)
c.1427C>G (p.Thr476Ser)
c.1487C>G (p.Thr496Ser)
19g.18785755G=CA2326525361COMPc.1586C= (p.Thr529=)
c.1427C= (p.Thr476=)
c.1487C= (p.Thr496=)
19g.18785755G>TCA404883043COMPc.1586C>A (p.Thr529Asn)
c.1427C>A (p.Thr476Asn)
c.1487C>A (p.Thr496Asn)
 ClinVar
19g.18785759_18785764delCA2573156199COMPc.1581_1586del (p.Leu528_Thr529del)
c.1422_1427del (p.Leu475_Thr476del)
c.1482_1487del (p.Leu495_Thr496del)
 ClinVar dbSNP
19g.18785756T>ACA404883049COMPc.1585A>T (p.Thr529Ser)
c.1426A>T (p.Thr476Ser)
c.1486A>T (p.Thr496Ser)
19g.18785756T>CCA404883051COMPc.1585A>G (p.Thr529Ala)
c.1426A>G (p.Thr476Ala)
c.1486A>G (p.Thr496Ala)
19g.18785756T>GCA404883055COMPc.1585A>C (p.Thr529Pro)
c.1426A>C (p.Thr476Pro)
c.1486A>C (p.Thr496Pro)
19g.18785757G>ACA9316354COMPc.1584C>T (p.Leu528=)
c.1425C>T (p.Leu475=)
c.1485C>T (p.Leu495=)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.18785757G>CCA9316355COMPc.1584C>G (p.Leu528=)
c.1425C>G (p.Leu475=)
c.1485C>G (p.Leu495=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785757G=CA2326525362COMPc.1584C= (p.Leu528=)
c.1425C= (p.Leu475=)
c.1485C= (p.Leu495=)
19g.18785757G>TCA506117420COMPc.1584C>A (p.Leu528=)
c.1425C>A (p.Leu475=)
c.1485C>A (p.Leu495=)
 gnomAD v4
19g.18785758A>CCA404883063COMPc.1583T>G (p.Leu528Arg)
c.1424T>G (p.Leu475Arg)
c.1484T>G (p.Leu495Arg)
19g.18785758A>GCA404883065COMPc.1583T>C (p.Leu528Pro)
c.1424T>C (p.Leu475Pro)
c.1484T>C (p.Leu495Pro)
19g.18785758A>TCA404883067COMPc.1583T>A (p.Leu528His)
c.1424T>A (p.Leu475His)
c.1484T>A (p.Leu495His)
19g.18785759G>ACA404883072COMPc.1582C>T (p.Leu528Phe)
c.1423C>T (p.Leu475Phe)
c.1483C>T (p.Leu495Phe)
19g.18785759G>CCA404883078COMPc.1582C>G (p.Leu528Val)
c.1423C>G (p.Leu475Val)
c.1483C>G (p.Leu495Val)
 dbSNP gnomAD v4
19g.18785759G=CA2326525363COMPc.1582C= (p.Leu528=)
c.1423C= (p.Leu475=)
c.1483C= (p.Leu495=)
19g.18785759G>TCA404883075COMPc.1582C>A (p.Leu528Ile)
c.1423C>A (p.Leu475Ile)
c.1483C>A (p.Leu495Ile)
19g.18785760C>ACA506117424COMPc.1581G>T (p.Thr527=)
c.1422G>T (p.Thr474=)
c.1482G>T (p.Thr494=)
19g.18785760C=CA2326525364COMPc.1581G= (p.Thr527=)
c.1422G= (p.Thr474=)
c.1482G= (p.Thr494=)
19g.18785760C>GCA506117425COMPc.1581G>C (p.Thr527=)
c.1422G>C (p.Thr474=)
c.1482G>C (p.Thr494=)
19g.18785760C>TCA506117426COMPc.1581G>A (p.Thr527=)
c.1422G>A (p.Thr474=)
c.1482G>A (p.Thr494=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.18785761G>ACA404883081COMPc.1580C>T (p.Thr527Met)
c.1421C>T (p.Thr474Met)
c.1481C>T (p.Thr494Met)
 dbSNP gnomAD v2 gnomAD v4
19g.18785761G>CCA404883084COMPc.1580C>G (p.Thr527Arg)
c.1421C>G (p.Thr474Arg)
c.1481C>G (p.Thr494Arg)
 gnomAD v4
19g.18785761G=CA2326525365COMPc.1580C= (p.Thr527=)
c.1421C= (p.Thr474=)
c.1481C= (p.Thr494=)
19g.18785761G>TCA404883086COMPc.1580C>A (p.Thr527Lys)
c.1421C>A (p.Thr474Lys)
c.1481C>A (p.Thr494Lys)
19g.18785762T>ACA404883088COMPc.1579A>T (p.Thr527Ser)
c.1420A>T (p.Thr474Ser)
c.1480A>T (p.Thr494Ser)
19g.18785762T>CCA306254661COMPc.1579A>G (p.Thr527Ala)
c.1420A>G (p.Thr474Ala)
c.1480A>G (p.Thr494Ala)
 ClinVar dbSNP
19g.18785762T>GCA404883092COMPc.1579A>C (p.Thr527Pro)
c.1420A>C (p.Thr474Pro)
c.1480A>C (p.Thr494Pro)
19g.18785762T=CA2326525366COMPc.1579A= (p.Thr527=)
c.1420A= (p.Thr474=)
c.1480A= (p.Thr494=)
19g.18785763G>ACA506117428COMPc.1578C>T (p.Val526=)
c.1419C>T (p.Val473=)
c.1479C>T (p.Val493=)
 dbSNP gnomAD v3 gnomAD v4
19g.18785763G>CCA506117429COMPc.1578C>G (p.Val526=)
c.1419C>G (p.Val473=)
c.1479C>G (p.Val493=)
19g.18785763G=CA2326525367COMPc.1578C= (p.Val526=)
c.1419C= (p.Val473=)
c.1479C= (p.Val493=)
19g.18785763G>TCA506117430COMPc.1578C>A (p.Val526=)
c.1419C>A (p.Val473=)
c.1479C>A (p.Val493=)
19g.18785764A>CCA404883094COMPc.1577T>G (p.Val526Gly)
c.1418T>G (p.Val473Gly)
c.1478T>G (p.Val493Gly)
19g.18785764A>GCA404883095COMPc.1577T>C (p.Val526Ala)
c.1418T>C (p.Val473Ala)
c.1478T>C (p.Val493Ala)
19g.18785764A>TCA404883097COMPc.1577T>A (p.Val526Asp)
c.1418T>A (p.Val473Asp)
c.1478T>A (p.Val493Asp)
19g.18785765C>ACA404883103COMPc.1576G>T (p.Val526Phe)
c.1417G>T (p.Val473Phe)
c.1477G>T (p.Val493Phe)
19g.18785765C=CA2326525368COMPc.1576G= (p.Val526=)
c.1417G= (p.Val473=)
c.1477G= (p.Val493=)
19g.18785765C>GCA404883113COMPc.1576G>C (p.Val526Leu)
c.1417G>C (p.Val473Leu)
c.1477G>C (p.Val493Leu)
19g.18785765C>TCA404883116COMPc.1576G>A (p.Val526Ile)
c.1417G>A (p.Val473Ile)
c.1477G>A (p.Val493Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.18785766T>ACA404883123COMPc.1575A>T (p.Glu525Asp)
c.1416A>T (p.Glu472Asp)
c.1476A>T (p.Glu492Asp)
19g.18785766T>CCA506117433COMPc.1575A>G (p.Glu525=)
c.1416A>G (p.Glu472=)
c.1476A>G (p.Glu492=)
19g.18785766T>GCA404883122COMPc.1575A>C (p.Glu525Asp)
c.1416A>C (p.Glu472Asp)
c.1476A>C (p.Glu492Asp)
19g.18785767T>ACA404883126COMPc.1574A>T (p.Glu525Val)
c.1415A>T (p.Glu472Val)
c.1475A>T (p.Glu492Val)
19g.18785767T>CCA404883128COMPc.1574A>G (p.Glu525Gly)
c.1415A>G (p.Glu472Gly)
c.1475A>G (p.Glu492Gly)
19g.18785767T>GCA404883131COMPc.1574A>C (p.Glu525Ala)
c.1415A>C (p.Glu472Ala)
c.1475A>C (p.Glu492Ala)
19g.18785767_18785781delinsTCAGCGTTCTCCGGACA2326525369COMPc.1560_1574delinsTCCGGAGAACGCTGA (p.Cys520=)
c.1401_1415delinsTCCGGAGAACGCTGA (p.Cys467=)
c.1461_1475delinsTCCGGAGAACGCTGA (p.Cys487=)
19g.18785768C>ACA404883134COMPc.1573G>T (p.Glu525Ter)
c.1414G>T (p.Glu472Ter)
c.1474G>T (p.Glu492Ter)
19g.18785768C>GCA404883137COMPc.1573G>C (p.Glu525Gln)
c.1414G>C (p.Glu472Gln)
c.1474G>C (p.Glu492Gln)
19g.18785768C>TCA404883140COMPc.1573G>A (p.Glu525Lys)
c.1414G>A (p.Glu472Lys)
c.1474G>A (p.Glu492Lys)
19g.18785768_18785772delCA2735825195COMPc.1569_1573del (p.Asn523LysfsTer20)
c.1410_1414del (p.Asn470LysfsTer20)
c.1470_1474del (p.Asn490LysfsTer20)
 dbSNP
19g.18785770_18785783delCA9316356COMPc.1560_1573del (p.Cys520Ter)
c.1401_1414del (p.Cys467Ter)
c.1461_1474del (p.Cys487Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785769A>CCA506117438COMPc.1572T>G (p.Ala524=)
c.1413T>G (p.Ala471=)
c.1473T>G (p.Ala491=)
19g.18785769A>GCA506117440COMPc.1572T>C (p.Ala524=)
c.1413T>C (p.Ala471=)
c.1473T>C (p.Ala491=)
19g.18785769A>TCA506117441COMPc.1572T>A (p.Ala524=)
c.1413T>A (p.Ala471=)
c.1473T>A (p.Ala491=)
19g.18785770G>ACA404883144COMPc.1571C>T (p.Ala524Val)
c.1412C>T (p.Ala471Val)
c.1472C>T (p.Ala491Val)
19g.18785770G>CCA404883148COMPc.1571C>G (p.Ala524Gly)
c.1412C>G (p.Ala471Gly)
c.1472C>G (p.Ala491Gly)
19g.18785770G>TCA404883149COMPc.1571C>A (p.Ala524Asp)
c.1412C>A (p.Ala471Asp)
c.1472C>A (p.Ala491Asp)
 gnomAD v4
19g.18785771C>ACA404883150COMPc.1570G>T (p.Ala524Ser)
c.1411G>T (p.Ala471Ser)
c.1471G>T (p.Ala491Ser)
 dbSNP
19g.18785771C=CA2326525370COMPc.1570G= (p.Ala524=)
c.1411G= (p.Ala471=)
c.1471G= (p.Ala491=)
19g.18785771C>GCA404883151COMPc.1570G>C (p.Ala524Pro)
c.1411G>C (p.Ala471Pro)
c.1471G>C (p.Ala491Pro)
19g.18785771C>TCA404883152COMPc.1570G>A (p.Ala524Thr)
c.1411G>A (p.Ala471Thr)
c.1471G>A (p.Ala491Thr)
 gnomAD v4
19g.18785772G>ACA506117443COMPc.1569C>T (p.Asn523=)
c.1410C>T (p.Asn470=)
c.1470C>T (p.Asn490=)
19g.18785772G>CCA120167COMPc.1569C>G (p.Asn523Lys)
c.1410C>G (p.Asn470Lys)
c.1470C>G (p.Asn490Lys)
 ClinVar dbSNP
19g.18785772G=CA2326525371COMPc.1569C= (p.Asn523=)
c.1410C= (p.Asn470=)
c.1470C= (p.Asn490=)
19g.18785772G>TCA404883154COMPc.1569C>A (p.Asn523Lys)
c.1410C>A (p.Asn470Lys)
c.1470C>A (p.Asn490Lys)
 ClinVar dbSNP
19g.18785773T>ACA404883159COMPc.1568A>T (p.Asn523Ile)
c.1409A>T (p.Asn470Ile)
c.1469A>T (p.Asn490Ile)
19g.18785773T>CCA9316357COMPc.1568A>G (p.Asn523Ser)
c.1409A>G (p.Asn470Ser)
c.1469A>G (p.Asn490Ser)
 ClinVar dbSNP ExAC
19g.18785773T>GCA404883161COMPc.1568A>C (p.Asn523Thr)
c.1409A>C (p.Asn470Thr)
c.1469A>C (p.Asn490Thr)
19g.18785773T=CA2326525372COMPc.1568A= (p.Asn523=)
c.1409A= (p.Asn470=)
c.1469A= (p.Asn490=)
19g.18785774T>ACA404883164COMPc.1567A>T (p.Asn523Tyr)
c.1408A>T (p.Asn470Tyr)
c.1468A>T (p.Asn490Tyr)
19g.18785774T>CCA404883168COMPc.1567A>G (p.Asn523Asp)
c.1408A>G (p.Asn470Asp)
c.1468A>G (p.Asn490Asp)
19g.18785774T>GCA404883171COMPc.1567A>C (p.Asn523His)
c.1408A>C (p.Asn470His)
c.1468A>C (p.Asn490His)
19g.18785775C>ACA404883175COMPc.1566G>T (p.Glu522Asp)
c.1407G>T (p.Glu469Asp)
c.1467G>T (p.Glu489Asp)
19g.18785775C>GCA404883176COMPc.1566G>C (p.Glu522Asp)
c.1407G>C (p.Glu469Asp)
c.1467G>C (p.Glu489Asp)
19g.18785775C>TCA506117444COMPc.1566G>A (p.Glu522=)
c.1407G>A (p.Glu469=)
c.1467G>A (p.Glu489=)
19g.18785776T>ACA404883179COMPc.1565A>T (p.Glu522Val)
c.1406A>T (p.Glu469Val)
c.1466A>T (p.Glu489Val)
19g.18785776T>CCA404883180COMPc.1565A>G (p.Glu522Gly)
c.1406A>G (p.Glu469Gly)
c.1466A>G (p.Glu489Gly)
19g.18785776T>GCA404883181COMPc.1565A>C (p.Glu522Ala)
c.1406A>C (p.Glu469Ala)
c.1466A>C (p.Glu489Ala)
19g.18785777C>ACA404883182COMPc.1564G>T (p.Glu522Ter)
c.1405G>T (p.Glu469Ter)
c.1465G>T (p.Glu489Ter)
19g.18785777C>GCA404883183COMPc.1564G>C (p.Glu522Gln)
c.1405G>C (p.Glu469Gln)
c.1465G>C (p.Glu489Gln)
19g.18785777C>TCA404883185COMPc.1564G>A (p.Glu522Lys)
c.1405G>A (p.Glu469Lys)
c.1465G>A (p.Glu489Lys)
19g.18785778C>ACA506117445COMPc.1563G>T (p.Pro521=)
c.1404G>T (p.Pro468=)
c.1464G>T (p.Pro488=)
19g.18785778C=CA2326525373COMPc.1563G= (p.Pro521=)
c.1404G= (p.Pro468=)
c.1464G= (p.Pro488=)
19g.18785778C>GCA506117447COMPc.1563G>C (p.Pro521=)
c.1404G>C (p.Pro468=)
c.1464G>C (p.Pro488=)
19g.18785778C>TCA9316358COMPc.1563G>A (p.Pro521=)
c.1404G>A (p.Pro468=)
c.1464G>A (p.Pro488=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785779G>ACA404883191COMPc.1562C>T (p.Pro521Leu)
c.1403C>T (p.Pro468Leu)
c.1463C>T (p.Pro488Leu)
19g.18785779G>CCA306254680COMPc.1562C>G (p.Pro521Arg)
c.1403C>G (p.Pro468Arg)
c.1463C>G (p.Pro488Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785779G=CA2326525374COMPc.1562C= (p.Pro521=)
c.1403C= (p.Pro468=)
c.1463C= (p.Pro488=)
19g.18785779G>TCA404883190COMPc.1562C>A (p.Pro521Gln)
c.1403C>A (p.Pro468Gln)
c.1463C>A (p.Pro488Gln)
 gnomAD v4
19g.18785780G>ACA404883194COMPc.1561C>T (p.Pro521Ser)
c.1402C>T (p.Pro468Ser)
c.1462C>T (p.Pro488Ser)
19g.18785780G>CCA404883196COMPc.1561C>G (p.Pro521Ala)
c.1402C>G (p.Pro468Ala)
c.1462C>G (p.Pro488Ala)
19g.18785780G>TCA404883199COMPc.1561C>A (p.Pro521Thr)
c.1402C>A (p.Pro468Thr)
c.1462C>A (p.Pro488Thr)
19g.18785781A>CCA404883202COMPc.1560T>G (p.Cys520Trp)
c.1401T>G (p.Cys467Trp)
c.1461T>G (p.Cys487Trp)
19g.18785781A>GCA506117450COMPc.1560T>C (p.Cys520=)
c.1401T>C (p.Cys467=)
c.1461T>C (p.Cys487=)
19g.18785781A>TCA404883204COMPc.1560T>A (p.Cys520Ter)
c.1401T>A (p.Cys467Ter)
c.1461T>A (p.Cys487Ter)
19g.18785782C>ACA404883207COMPc.1559G>T (p.Cys520Phe)
c.1400G>T (p.Cys467Phe)
c.1460G>T (p.Cys487Phe)
19g.18785782C>GCA404883210COMPc.1559G>C (p.Cys520Ser)
c.1400G>C (p.Cys467Ser)
c.1460G>C (p.Cys487Ser)
19g.18785782C>TCA404883213COMPc.1559G>A (p.Cys520Tyr)
c.1400G>A (p.Cys467Tyr)
c.1460G>A (p.Cys487Tyr)
19g.18785783A>CCA404883216COMPc.1558T>G (p.Cys520Gly)
c.1399T>G (p.Cys467Gly)
c.1459T>G (p.Cys487Gly)
 gnomAD v4
19g.18785783A>GCA404883218COMPc.1558T>C (p.Cys520Arg)
c.1399T>C (p.Cys467Arg)
c.1459T>C (p.Cys487Arg)
19g.18785783A>TCA404883222COMPc.1558T>A (p.Cys520Ser)
c.1399T>A (p.Cys467Ser)
c.1459T>A (p.Cys487Ser)
19g.18785784C>ACA506117452COMPc.1557G>T (p.Val519=)
c.1398G>T (p.Val466=)
c.1458G>T (p.Val486=)
19g.18785784C>GCA506117453COMPc.1557G>C (p.Val519=)
c.1398G>C (p.Val466=)
c.1458G>C (p.Val486=)
19g.18785784C>TCA506117455COMPc.1557G>A (p.Val519=)
c.1398G>A (p.Val466=)
c.1458G>A (p.Val486=)
19g.18785785A>CCA404883249COMPc.1556T>G (p.Val519Gly)
c.1397T>G (p.Val466Gly)
c.1457T>G (p.Val486Gly)
19g.18785785A>GCA404883251COMPc.1556T>C (p.Val519Ala)
c.1397T>C (p.Val466Ala)
c.1457T>C (p.Val486Ala)
19g.18785785A>TCA404883234COMPc.1556T>A (p.Val519Glu)
c.1397T>A (p.Val466Glu)
c.1457T>A (p.Val486Glu)
19g.18785786C>ACA404883254COMPc.1555G>T (p.Val519Leu)
c.1396G>T (p.Val466Leu)
c.1456G>T (p.Val486Leu)
 gnomAD v4
19g.18785786C=CA2326525375COMPc.1555G= (p.Val519=)
c.1396G= (p.Val466=)
c.1456G= (p.Val486=)
19g.18785786C>GCA404883270COMPc.1555G>C (p.Val519Leu)
c.1396G>C (p.Val466Leu)
c.1456G>C (p.Val486Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.18785786C>TCA9316359COMPc.1555G>A (p.Val519Met)
c.1396G>A (p.Val466Met)
c.1456G>A (p.Val486Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785787G>ACA506117458COMPc.1554C>T (p.Asp518=)
c.1395C>T (p.Asp465=)
c.1455C>T (p.Asp485=)
19g.18785787G>CCA404883272COMPc.1554C>G (p.Asp518Glu)
c.1395C>G (p.Asp465Glu)
c.1455C>G (p.Asp485Glu)
19g.18785787G>TCA404883273COMPc.1554C>A (p.Asp518Glu)
c.1395C>A (p.Asp465Glu)
c.1455C>A (p.Asp485Glu)
19g.18785788T>ACA404883275COMPc.1553A>T (p.Asp518Val)
c.1394A>T (p.Asp465Val)
c.1454A>T (p.Asp485Val)
19g.18785788T>CCA404883276COMPc.1553A>G (p.Asp518Gly)
c.1394A>G (p.Asp465Gly)
c.1454A>G (p.Asp485Gly)
 ClinVar dbSNP
19g.18785788T>GCA404883288COMPc.1553A>C (p.Asp518Ala)
c.1394A>C (p.Asp465Ala)
c.1454A>C (p.Asp485Ala)
19g.18785789C>ACA404883294COMPc.1552G>T (p.Asp518Tyr)
c.1393G>T (p.Asp465Tyr)
c.1453G>T (p.Asp485Tyr)
19g.18785789C=CA2326525376COMPc.1552G= (p.Asp518=)
c.1393G= (p.Asp465=)
c.1453G= (p.Asp485=)
19g.18785789C>GCA404883300COMPc.1552G>C (p.Asp518His)
c.1393G>C (p.Asp465His)
c.1453G>C (p.Asp485His)
 ClinVar dbSNP
19g.18785789C>TCA404883301COMPc.1552G>A (p.Asp518Asn)
c.1393G>A (p.Asp465Asn)
c.1453G>A (p.Asp485Asn)
 ClinVar dbSNP gnomAD v2
19g.18785790G>ACA9316360COMPc.1551C>T (p.Ile517=)
c.1392C>T (p.Ile464=)
c.1452C>T (p.Ile484=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785790G>CCA404883306COMPc.1551C>G (p.Ile517Met)
c.1392C>G (p.Ile464Met)
c.1452C>G (p.Ile484Met)
19g.18785790G=CA2326525377COMPc.1551C= (p.Ile517=)
c.1392C= (p.Ile464=)
c.1452C= (p.Ile484=)
19g.18785790G>TCA506117461COMPc.1551C>A (p.Ile517=)
c.1392C>A (p.Ile464=)
c.1452C>A (p.Ile484=)
19g.18785791A>CCA404883319COMPc.1550T>G (p.Ile517Ser)
c.1391T>G (p.Ile464Ser)
c.1451T>G (p.Ile484Ser)
19g.18785791A>GCA404883316COMPc.1550T>C (p.Ile517Thr)
c.1391T>C (p.Ile464Thr)
c.1451T>C (p.Ile484Thr)
19g.18785791A>TCA404883311COMPc.1550T>A (p.Ile517Asn)
c.1391T>A (p.Ile464Asn)
c.1451T>A (p.Ile484Asn)
19g.18785792T>ACA404883322COMPc.1549A>T (p.Ile517Phe)
c.1390A>T (p.Ile464Phe)
c.1450A>T (p.Ile484Phe)
19g.18785792T>CCA404883325COMPc.1549A>G (p.Ile517Val)
c.1390A>G (p.Ile464Val)
c.1450A>G (p.Ile484Val)
19g.18785792T>GCA404883327COMPc.1549A>C (p.Ile517Leu)
c.1390A>C (p.Ile464Leu)
c.1450A>C (p.Ile484Leu)
19g.18785793C>ACA9316361COMPc.1548G>T (p.Lys516Asn)
c.1389G>T (p.Lys463Asn)
c.1449G>T (p.Lys483Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785793C=CA2326525378COMPc.1548G= (p.Lys516=)
c.1389G= (p.Lys463=)
c.1449G= (p.Lys483=)
19g.18785793C>GCA404883332COMPc.1548G>C (p.Lys516Asn)
c.1389G>C (p.Lys463Asn)
c.1449G>C (p.Lys483Asn)
19g.18785793C>TCA506117465COMPc.1548G>A (p.Lys516=)
c.1389G>A (p.Lys463=)
c.1449G>A (p.Lys483=)
19g.18785800_18785811delCA2695228422COMPc.1537_1548del (p.Val513_Lys516del)
c.1378_1389del (p.Val460_Lys463del)
c.1438_1449del (p.Val480_Lys483del)
19g.18785794T>ACA404883335COMPc.1547A>T (p.Lys516Met)
c.1388A>T (p.Lys463Met)
c.1448A>T (p.Lys483Met)
19g.18785794T>CCA404883338COMPc.1547A>G (p.Lys516Arg)
c.1388A>G (p.Lys463Arg)
c.1448A>G (p.Lys483Arg)
19g.18785794T>GCA404883344COMPc.1547A>C (p.Lys516Thr)
c.1388A>C (p.Lys463Thr)
c.1448A>C (p.Lys483Thr)
19g.18785795T>ACA404883353COMPc.1546A>T (p.Lys516Ter)
c.1387A>T (p.Lys463Ter)
c.1447A>T (p.Lys483Ter)
19g.18785795T>CCA404883354COMPc.1546A>G (p.Lys516Glu)
c.1387A>G (p.Lys463Glu)
c.1447A>G (p.Lys483Glu)
 gnomAD v4
19g.18785795T>GCA404883355COMPc.1546A>C (p.Lys516Gln)
c.1387A>C (p.Lys463Gln)
c.1447A>C (p.Lys483Gln)
19g.18785796G>ACA506117467COMPc.1545C>T (p.Asp515=)
c.1386C>T (p.Asp462=)
c.1446C>T (p.Asp482=)
19g.18785796G>CCA404883356COMPc.1545C>G (p.Asp515Glu)
c.1386C>G (p.Asp462Glu)
c.1446C>G (p.Asp482Glu)
 ClinVar dbSNP
19g.18785796G=CA2326525379COMPc.1545C= (p.Asp515=)
c.1386C= (p.Asp462=)
c.1446C= (p.Asp482=)
19g.18785796G>TCA404883357COMPc.1545C>A (p.Asp515Glu)
c.1386C>A (p.Asp462Glu)
c.1446C>A (p.Asp482Glu)
 ClinVar
19g.18785797T>ACA404883360COMPc.1544A>T (p.Asp515Val)
c.1385A>T (p.Asp462Val)
c.1445A>T (p.Asp482Val)
19g.18785797T>CCA404883365COMPc.1544A>G (p.Asp515Gly)
c.1385A>G (p.Asp462Gly)
c.1445A>G (p.Asp482Gly)
 ClinVar
19g.18785797T>GCA404883362COMPc.1544A>C (p.Asp515Ala)
c.1385A>C (p.Asp462Ala)
c.1445A>C (p.Asp482Ala)
19g.18785798C>ACA404883369COMPc.1543G>T (p.Asp515Tyr)
c.1384G>T (p.Asp462Tyr)
c.1444G>T (p.Asp482Tyr)
19g.18785798C>GCA404883373COMPc.1543G>C (p.Asp515His)
c.1384G>C (p.Asp462His)
c.1444G>C (p.Asp482His)
19g.18785798C>TCA404883371COMPc.1543G>A (p.Asp515Asn)
c.1384G>A (p.Asp462Asn)
c.1444G>A (p.Asp482Asn)
19g.18785799T>ACA506117469COMPc.1542A>T (p.Val514=)
c.1383A>T (p.Val461=)
c.1443A>T (p.Val481=)
19g.18785799T>CCA506117470COMPc.1542A>G (p.Val514=)
c.1383A>G (p.Val461=)
c.1443A>G (p.Val481=)
19g.18785799T>GCA506117471COMPc.1542A>C (p.Val514=)
c.1383A>C (p.Val461=)
c.1443A>C (p.Val481=)
19g.18785800A=CA2326525380COMPc.1541T= (p.Val514=)
c.1382T= (p.Val461=)
c.1442T= (p.Val481=)
19g.18785800A>CCA404883374COMPc.1541T>G (p.Val514Gly)
c.1382T>G (p.Val461Gly)
c.1442T>G (p.Val481Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.18785800A>GCA404883378COMPc.1541T>C (p.Val514Ala)
c.1382T>C (p.Val461Ala)
c.1442T>C (p.Val481Ala)
19g.18785800A>TCA404883375COMPc.1541T>A (p.Val514Glu)
c.1382T>A (p.Val461Glu)
c.1442T>A (p.Val481Glu)
19g.18785801C>ACA404883382COMPc.1540G>T (p.Val514Leu)
c.1381G>T (p.Val461Leu)
c.1441G>T (p.Val481Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.18785801C=CA2326525381COMPc.1540G= (p.Val514=)
c.1381G= (p.Val461=)
c.1441G= (p.Val481=)
19g.18785801C>GCA404883400COMPc.1540G>C (p.Val514Leu)
c.1381G>C (p.Val461Leu)
c.1441G>C (p.Val481Leu)
19g.18785801C>TCA404883384COMPc.1540G>A (p.Val514Ile)
c.1381G>A (p.Val461Ile)
c.1441G>A (p.Val481Ile)
19g.18785802dupCA2842543154COMPc.1540dup (p.Val514GlyfsTer12)
c.1381dup (p.Val461GlyfsTer12)
c.1441dup (p.Val481GlyfsTer12)
19g.18785802delCA2838921510COMPc.1540del (p.Val514Ter)
c.1381del (p.Val461Ter)
c.1441del (p.Val481Ter)
19g.18785802_18785813delCA2695228423COMPc.1529_1540del (p.Ala510_Val513del)
c.1370_1381del (p.Ala457_Val460del)
c.1430_1441del (p.Ala477_Val480del)
19g.18785802C>ACA506117475COMPc.1539G>T (p.Val513=)
c.1380G>T (p.Val460=)
c.1440G>T (p.Val480=)
19g.18785802C>GCA506117472COMPc.1539G>C (p.Val513=)
c.1380G>C (p.Val460=)
c.1440G>C (p.Val480=)
19g.18785802C>TCA506117474COMPc.1539G>A (p.Val513=)
c.1380G>A (p.Val460=)
c.1440G>A (p.Val480=)
19g.18785803A>CCA404883405COMPc.1538T>G (p.Val513Gly)
c.1379T>G (p.Val460Gly)
c.1439T>G (p.Val480Gly)
19g.18785803A>GCA404883417COMPc.1538T>C (p.Val513Ala)
c.1379T>C (p.Val460Ala)
c.1439T>C (p.Val480Ala)
19g.18785803A>TCA404883412COMPc.1538T>A (p.Val513Glu)
c.1379T>A (p.Val460Glu)
c.1439T>A (p.Val480Glu)
19g.18785804C>ACA404883420COMPc.1537G>T (p.Val513Leu)
c.1378G>T (p.Val460Leu)
c.1438G>T (p.Val480Leu)
19g.18785804C>GCA404883422COMPc.1537G>C (p.Val513Leu)
c.1378G>C (p.Val460Leu)
c.1438G>C (p.Val480Leu)
19g.18785804C>TCA404883421COMPc.1537G>A (p.Val513Met)
c.1378G>A (p.Val460Met)
c.1438G>A (p.Val480Met)
19g.18785805C>ACA404883427COMPc.1536G>T (p.Lys512Asn)
c.1377G>T (p.Lys459Asn)
c.1437G>T (p.Lys479Asn)
19g.18785805C=CA2326525382COMPc.1536G= (p.Lys512=)
c.1377G= (p.Lys459=)
c.1437G= (p.Lys479=)
19g.18785805C>GCA404883437COMPc.1536G>C (p.Lys512Asn)
c.1377G>C (p.Lys459Asn)
c.1437G>C (p.Lys479Asn)
19g.18785805C>TCA9316362COMPc.1536G>A (p.Lys512=)
c.1377G>A (p.Lys459=)
c.1437G>A (p.Lys479=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785806T>ACA404883440COMPc.1535A>T (p.Lys512Met)
c.1376A>T (p.Lys459Met)
c.1436A>T (p.Lys479Met)
19g.18785806T>CCA9316363COMPc.1535A>G (p.Lys512Arg)
c.1376A>G (p.Lys459Arg)
c.1436A>G (p.Lys479Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785806T>GCA404883446COMPc.1535A>C (p.Lys512Thr)
c.1376A>C (p.Lys459Thr)
c.1436A>C (p.Lys479Thr)
19g.18785806T=CA2326525383COMPc.1535A= (p.Lys512=)
c.1376A= (p.Lys459=)
c.1436A= (p.Lys479=)
19g.18785807T>ACA404883449COMPc.1534A>T (p.Lys512Ter)
c.1375A>T (p.Lys459Ter)
c.1435A>T (p.Lys479Ter)
19g.18785807T>CCA404883452COMPc.1534A>G (p.Lys512Glu)
c.1375A>G (p.Lys459Glu)
c.1435A>G (p.Lys479Glu)
19g.18785807T>GCA9316364COMPc.1534A>C (p.Lys512Gln)
c.1375A>C (p.Lys459Gln)
c.1435A>C (p.Lys479Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785807T=CA2326525384COMPc.1534A= (p.Lys512=)
c.1375A= (p.Lys459=)
c.1435A= (p.Lys479=)
19g.18785808G>ACA506117480COMPc.1533C>T (p.Asp511=)
c.1374C>T (p.Asp458=)
c.1434C>T (p.Asp478=)
19g.18785808G>CCA16620813COMPc.1533C>G (p.Asp511Glu)
c.1374C>G (p.Asp458Glu)
c.1434C>G (p.Asp478Glu)
 ClinVar dbSNP
19g.18785808G=CA2326525385COMPc.1533C= (p.Asp511=)
c.1374C= (p.Asp458=)
c.1434C= (p.Asp478=)
19g.18785808G>TCA404883483COMPc.1533C>A (p.Asp511Glu)
c.1374C>A (p.Asp458Glu)
c.1434C>A (p.Asp478Glu)
19g.18785809T>ACA404883494COMPc.1532A>T (p.Asp511Val)
c.1373A>T (p.Asp458Val)
c.1433A>T (p.Asp478Val)
 ClinVar dbSNP
19g.18785809T>CCA404883495COMPc.1532A>G (p.Asp511Gly)
c.1373A>G (p.Asp458Gly)
c.1433A>G (p.Asp478Gly)
19g.18785809T>GCA404883498COMPc.1532A>C (p.Asp511Ala)
c.1373A>C (p.Asp458Ala)
c.1433A>C (p.Asp478Ala)
19g.18785809T=CA2326525386COMPc.1532A= (p.Asp511=)
c.1373A= (p.Asp458=)
c.1433A= (p.Asp478=)
19g.18785810C>ACA404883512COMPc.1531G>T (p.Asp511Tyr)
c.1372G>T (p.Asp458Tyr)
c.1432G>T (p.Asp478Tyr)
19g.18785810C>GCA404883516COMPc.1531G>C (p.Asp511His)
c.1372G>C (p.Asp458His)
c.1432G>C (p.Asp478His)
19g.18785810C>TCA404883514COMPc.1531G>A (p.Asp511Asn)
c.1372G>A (p.Asp458Asn)
c.1432G>A (p.Asp478Asn)
19g.18785811T>ACA506117481COMPc.1530A>T (p.Ala510=)
c.1371A>T (p.Ala457=)
c.1431A>T (p.Ala477=)
19g.18785811T>CCA506117483COMPc.1530A>G (p.Ala510=)
c.1371A>G (p.Ala457=)
c.1431A>G (p.Ala477=)
19g.18785811T>GCA506117484COMPc.1530A>C (p.Ala510=)
c.1371A>C (p.Ala457=)
c.1431A>C (p.Ala477=)
19g.18785812G>ACA404883520COMPc.1529C>T (p.Ala510Val)
c.1370C>T (p.Ala457Val)
c.1430C>T (p.Ala477Val)
 dbSNP gnomAD v2
19g.18785812G>CCA404883522COMPc.1529C>G (p.Ala510Gly)
c.1370C>G (p.Ala457Gly)
c.1430C>G (p.Ala477Gly)
19g.18785812G=CA2326525387COMPc.1529C= (p.Ala510=)
c.1370C= (p.Ala457=)
c.1430C= (p.Ala477=)
19g.18785812G>TCA404883526COMPc.1529C>A (p.Ala510Glu)
c.1370C>A (p.Ala457Glu)
c.1430C>A (p.Ala477Glu)
19g.18785812_18785814delCA2580096751COMPc.1527_1529del (p.Asp509_Ala510delinsGlu)
c.1368_1370del (p.Asp456_Ala457delinsGlu)
c.1428_1430del (p.Asp476_Ala477delinsGlu)
 ClinVar
19g.18785813C>ACA404883529COMPc.1528G>T (p.Ala510Ser)
c.1369G>T (p.Ala457Ser)
c.1429G>T (p.Ala477Ser)
19g.18785813C>GCA404883534COMPc.1528G>C (p.Ala510Pro)
c.1369G>C (p.Ala457Pro)
c.1429G>C (p.Ala477Pro)
19g.18785813C>TCA404883537COMPc.1528G>A (p.Ala510Thr)
c.1369G>A (p.Ala457Thr)
c.1429G>A (p.Ala477Thr)
19g.18785814A=CA2326525388COMPc.1527T= (p.Asp509=)
c.1368T= (p.Asp456=)
c.1428T= (p.Asp476=)
19g.18785814A>CCA404883542COMPc.1527T>G (p.Asp509Glu)
c.1368T>G (p.Asp456Glu)
c.1428T>G (p.Asp476Glu)
19g.18785814A>GCA9316365COMPc.1527T>C (p.Asp509=)
c.1368T>C (p.Asp456=)
c.1428T>C (p.Asp476=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785814A>TCA404883548COMPc.1527T>A (p.Asp509Glu)
c.1368T>A (p.Asp456Glu)
c.1428T>A (p.Asp476Glu)
 ClinVar
19g.18785815delCA2583621879COMPc.1526del (p.Asp509ValfsTer6)
c.1367del (p.Asp456ValfsTer6)
c.1427del (p.Asp476ValfsTer6)
 gnomAD v4
19g.18785815T>ACA404883554COMPc.1526A>T (p.Asp509Val)
c.1367A>T (p.Asp456Val)
c.1427A>T (p.Asp476Val)
 ClinVar dbSNP
19g.18785815T>CCA404883555COMPc.1526A>G (p.Asp509Gly)
c.1367A>G (p.Asp456Gly)
c.1427A>G (p.Asp476Gly)
 ClinVar
19g.18785815T>GCA404883552COMPc.1526A>C (p.Asp509Ala)
c.1367A>C (p.Asp456Ala)
c.1427A>C (p.Asp476Ala)
19g.18785816C>ACA404883558COMPc.1525G>T (p.Asp509Tyr)
c.1366G>T (p.Asp456Tyr)
c.1426G>T (p.Asp476Tyr)
 gnomAD v4
19g.18785816C>GCA404883567COMPc.1525G>C (p.Asp509His)
c.1366G>C (p.Asp456His)
c.1426G>C (p.Asp476His)
19g.18785816C>TCA404883570COMPc.1525G>A (p.Asp509Asn)
c.1366G>A (p.Asp456Asn)
c.1426G>A (p.Asp476Asn)
19g.18785817A=CA2326525389COMPc.1524T= (p.Phe508=)
c.1365T= (p.Phe455=)
c.1425T= (p.Phe475=)
19g.18785817A>CCA404883575COMPc.1524T>G (p.Phe508Leu)
c.1365T>G (p.Phe455Leu)
c.1425T>G (p.Phe475Leu)
19g.18785817A>GCA506117489COMPc.1524T>C (p.Phe508=)
c.1365T>C (p.Phe455=)
c.1425T>C (p.Phe475=)
 gnomAD v4
19g.18785817A>TCA9316366COMPc.1524T>A (p.Phe508Leu)
c.1365T>A (p.Phe455Leu)
c.1425T>A (p.Phe475Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785819delCA2838392735COMPc.1524del (p.Phe508LeufsTer7)
c.1365del (p.Phe455LeufsTer7)
c.1425del (p.Phe475LeufsTer7)
19g.18785818A>CCA404883587COMPc.1523T>G (p.Phe508Cys)
c.1364T>G (p.Phe455Cys)
c.1424T>G (p.Phe475Cys)
19g.18785818A>GCA404883581COMPc.1523T>C (p.Phe508Ser)
c.1364T>C (p.Phe455Ser)
c.1424T>C (p.Phe475Ser)
19g.18785818A>TCA404883584COMPc.1523T>A (p.Phe508Tyr)
c.1364T>A (p.Phe455Tyr)
c.1424T>A (p.Phe475Tyr)
19g.18785819A>CCA404883590COMPc.1522T>G (p.Phe508Val)
c.1363T>G (p.Phe455Val)
c.1423T>G (p.Phe475Val)
19g.18785819A>GCA404883594COMPc.1522T>C (p.Phe508Leu)
c.1363T>C (p.Phe455Leu)
c.1423T>C (p.Phe475Leu)
19g.18785819A>TCA404883597COMPc.1522T>A (p.Phe508Ile)
c.1363T>A (p.Phe455Ile)
c.1423T>A (p.Phe475Ile)
19g.18785820G>ACA506117491COMPc.1521C>T (p.Asp507=)
c.1362C>T (p.Asp454=)
c.1422C>T (p.Asp474=)
19g.18785820G>CCA404883601COMPc.1521C>G (p.Asp507Glu)
c.1362C>G (p.Asp454Glu)
c.1422C>G (p.Asp474Glu)
 ClinVar dbSNP
19g.18785820G>TCA404883604COMPc.1521C>A (p.Asp507Glu)
c.1362C>A (p.Asp454Glu)
c.1422C>A (p.Asp474Glu)
 ClinVar dbSNP
19g.18785821T>ACA404883617COMPc.1520A>T (p.Asp507Val)
c.1361A>T (p.Asp454Val)
c.1421A>T (p.Asp474Val)
19g.18785821T>CCA404883624COMPc.1520A>G (p.Asp507Gly)
c.1361A>G (p.Asp454Gly)
c.1421A>G (p.Asp474Gly)
 ClinVar dbSNP
19g.18785821T>GCA404883620COMPc.1520A>C (p.Asp507Ala)
c.1361A>C (p.Asp454Ala)
c.1421A>C (p.Asp474Ala)
19g.18785822C>ACA404883629COMPc.1519G>T (p.Asp507Tyr)
c.1360G>T (p.Asp454Tyr)
c.1420G>T (p.Asp474Tyr)
 gnomAD v4
19g.18785822C>GCA404883638COMPc.1519G>C (p.Asp507His)
c.1360G>C (p.Asp454His)
c.1420G>C (p.Asp474His)
19g.18785822C>TCA404883639COMPc.1519G>A (p.Asp507Asn)
c.1360G>A (p.Asp454Asn)
c.1420G>A (p.Asp474Asn)
 ClinVar
19g.18785823G>ACA9316367COMPc.1518C>T (p.Asp506=)
c.1359C>T (p.Asp453=)
c.1419C>T (p.Asp473=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785823G>CCA9316368COMPc.1518C>G (p.Asp506Glu)
c.1359C>G (p.Asp453Glu)
c.1419C>G (p.Asp473Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785823G=CA2326525390COMPc.1518C= (p.Asp506=)
c.1359C= (p.Asp453=)
c.1419C= (p.Asp473=)
19g.18785823G>TCA404883645COMPc.1518C>A (p.Asp506Glu)
c.1359C>A (p.Asp453Glu)
c.1419C>A (p.Asp473Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18785824T>ACA404883648COMPc.1517A>T (p.Asp506Val)
c.1358A>T (p.Asp453Val)
c.1418A>T (p.Asp473Val)
19g.18785824T>CCA404883652COMPc.1517A>G (p.Asp506Gly)
c.1358A>G (p.Asp453Gly)
c.1418A>G (p.Asp473Gly)
19g.18785824T>GCA404883653COMPc.1517A>C (p.Asp506Ala)
c.1358A>C (p.Asp453Ala)
c.1418A>C (p.Asp473Ala)
19g.18785824_18785825delinsTCCA2326525391COMPc.1516_1517delinsGA (p.Asp506=)
c.1357_1358delinsGA (p.Asp453=)
c.1417_1418delinsGA (p.Asp473=)
19g.18785825C>ACA404883654COMPc.1516G>T (p.Asp506Tyr)
c.1357G>T (p.Asp453Tyr)
c.1417G>T (p.Asp473Tyr)
 gnomAD v4
19g.18785825C>GCA404883657COMPc.1516G>C (p.Asp506His)
c.1357G>C (p.Asp453His)
c.1417G>C (p.Asp473His)
 gnomAD v4
19g.18785825C>TCA404883658COMPc.1516G>A (p.Asp506Asn)
c.1357G>A (p.Asp453Asn)
c.1417G>A (p.Asp473Asn)
 gnomAD v4
19g.18785826delCA2326525392COMPc.1516del (p.Asp506ThrfsTer9)
c.1357del (p.Asp453ThrfsTer9)
c.1417del (p.Asp473ThrfsTer9)
 dbSNP gnomAD v4
19g.18785826C>ACA404883663COMPc.1515G>T (p.Gln505His)
c.1356G>T (p.Gln452His)
c.1416G>T (p.Gln472His)
19g.18785826C>GCA404883664COMPc.1515G>C (p.Gln505His)
c.1356G>C (p.Gln452His)
c.1416G>C (p.Gln472His)
19g.18785826C>TCA506117493COMPc.1515G>A (p.Gln505=)
c.1356G>A (p.Gln452=)
c.1416G>A (p.Gln472=)
19g.18785827T>ACA404883666COMPc.1514A>T (p.Gln505Leu)
c.1355A>T (p.Gln452Leu)
c.1415A>T (p.Gln472Leu)
19g.18785827T>CCA404883667COMPc.1514A>G (p.Gln505Arg)
c.1355A>G (p.Gln452Arg)
c.1415A>G (p.Gln472Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.18785827T>GCA404883668COMPc.1514A>C (p.Gln505Pro)
c.1355A>C (p.Gln452Pro)
c.1415A>C (p.Gln472Pro)
 gnomAD v4
19g.18785827T=CA2326525393COMPc.1514A= (p.Gln505=)
c.1355A= (p.Gln452=)
c.1415A= (p.Gln472=)
19g.18785828G>ACA404883669COMPc.1513C>T (p.Gln505Ter)
c.1354C>T (p.Gln452Ter)
c.1414C>T (p.Gln472Ter)
19g.18785828G>CCA404883670COMPc.1513C>G (p.Gln505Glu)
c.1354C>G (p.Gln452Glu)
c.1414C>G (p.Gln472Glu)
19g.18785828G>TCA404883671COMPc.1513C>A (p.Gln505Lys)
c.1354C>A (p.Gln452Lys)
c.1414C>A (p.Gln472Lys)
19g.18785829G>ACA506117494COMPc.1512C>T (p.Cys504=)
c.1353C>T (p.Cys451=)
c.1413C>T (p.Cys471=)
 gnomAD v4
19g.18785829G>CCA404883674COMPc.1512C>G (p.Cys504Trp)
c.1353C>G (p.Cys451Trp)
c.1413C>G (p.Cys471Trp)
19g.18785829G>TCA404883672COMPc.1512C>A (p.Cys504Ter)
c.1353C>A (p.Cys451Ter)
c.1413C>A (p.Cys471Ter)
19g.18785830C>ACA404883678COMPc.1511G>T (p.Cys504Phe)
c.1352G>T (p.Cys451Phe)
c.1412G>T (p.Cys471Phe)
19g.18785830C>GCA404883681COMPc.1511G>C (p.Cys504Ser)
c.1352G>C (p.Cys451Ser)
c.1412G>C (p.Cys471Ser)
19g.18785830C>TCA404883683COMPc.1511G>A (p.Cys504Tyr)
c.1352G>A (p.Cys451Tyr)
c.1412G>A (p.Cys471Tyr)
 ClinVar gnomAD v4
19g.18785831A>CCA404883686COMPc.1510T>G (p.Cys504Gly)
c.1351T>G (p.Cys451Gly)
c.1411T>G (p.Cys471Gly)
19g.18785831A>GCA404883695COMPc.1510T>C (p.Cys504Arg)
c.1351T>C (p.Cys451Arg)
c.1411T>C (p.Cys471Arg)
19g.18785831A>TCA404883698COMPc.1510T>A (p.Cys504Ser)
c.1351T>A (p.Cys451Ser)
c.1411T>A (p.Cys471Ser)
19g.18785832C>ACA506117497COMPc.1509G>T (p.Val503=)
c.1350G>T (p.Val450=)
c.1410G>T (p.Val470=)
19g.18785832C=CA2326525394COMPc.1509G= (p.Val503=)
c.1350G= (p.Val450=)
c.1410G= (p.Val470=)
19g.18785832C>GCA506117496COMPc.1509G>C (p.Val503=)
c.1350G>C (p.Val450=)
c.1410G>C (p.Val470=)
 dbSNP
19g.18785832C>TCA506117495COMPc.1509G>A (p.Val503=)
c.1350G>A (p.Val450=)
c.1410G>A (p.Val470=)
19g.18785836_18785844delCA2695228424COMPc.1501_1509del (p.Gly501_Val503del)
c.1342_1350del (p.Gly448_Val450del)
c.1402_1410del (p.Gly468_Val470del)
19g.18785833A>CCA404883707COMPc.1508T>G (p.Val503Gly)
c.1349T>G (p.Val450Gly)
c.1409T>G (p.Val470Gly)
19g.18785833A>GCA404883703COMPc.1508T>C (p.Val503Ala)
c.1349T>C (p.Val450Ala)
c.1409T>C (p.Val470Ala)
19g.18785833A>TCA404883705COMPc.1508T>A (p.Val503Glu)
c.1349T>A (p.Val450Glu)
c.1409T>A (p.Val470Glu)
19g.18785834C>ACA404883710COMPc.1507G>T (p.Val503Leu)
c.1348G>T (p.Val450Leu)
c.1408G>T (p.Val470Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.18785834C=CA2326525395COMPc.1507G= (p.Val503=)
c.1348G= (p.Val450=)
c.1408G= (p.Val470=)
19g.18785834C>GCA404883712COMPc.1507G>C (p.Val503Leu)
c.1348G>C (p.Val450Leu)
c.1408G>C (p.Val470Leu)
19g.18785834C>TCA404883714COMPc.1507G>A (p.Val503Met)
c.1348G>A (p.Val450Met)
c.1408G>A (p.Val470Met)
 dbSNP gnomAD v4 COSMIC
19g.18785835G>ACA9316369COMPc.1506C>T (p.Asp502=)
c.1347C>T (p.Asp449=)
c.1407C>T (p.Asp469=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785835G>CCA404883717COMPc.1506C>G (p.Asp502Glu)
c.1347C>G (p.Asp449Glu)
c.1407C>G (p.Asp469Glu)
19g.18785835G=CA2326525396COMPc.1506C= (p.Asp502=)
c.1347C= (p.Asp449=)
c.1407C= (p.Asp469=)
19g.18785835G>TCA404883723COMPc.1506C>A (p.Asp502Glu)
c.1347C>A (p.Asp449Glu)
c.1407C>A (p.Asp469Glu)
19g.18785836T>ACA404883736COMPc.1505A>T (p.Asp502Val)
c.1346A>T (p.Asp449Val)
c.1406A>T (p.Asp469Val)
19g.18785836T>CCA404883739COMPc.1505A>G (p.Asp502Gly)
c.1346A>G (p.Asp449Gly)
c.1406A>G (p.Asp469Gly)
19g.18785836T>GCA404883742COMPc.1505A>C (p.Asp502Ala)
c.1346A>C (p.Asp449Ala)
c.1406A>C (p.Asp469Ala)
19g.18785837C>ACA404883760COMPc.1504G>T (p.Asp502Tyr)
c.1345G>T (p.Asp449Tyr)
c.1405G>T (p.Asp469Tyr)
19g.18785837C=CA2326525397COMPc.1504G= (p.Asp502=)
c.1345G= (p.Asp449=)
c.1405G= (p.Asp469=)
19g.18785837C>GCA404883764COMPc.1504G>C (p.Asp502His)
c.1345G>C (p.Asp449His)
c.1405G>C (p.Asp469His)
 dbSNP
19g.18785837C>TCA404883767COMPc.1504G>A (p.Asp502Asn)
c.1345G>A (p.Asp449Asn)
c.1405G>A (p.Asp469Asn)
 gnomAD v4 COSMIC
19g.18785837_18785839delinsAGTCA2695228425COMPc.1502_1504delinsACT (p.Gly501_Asp502delinsAspTyr)
c.1343_1345delinsACT (p.Gly448_Asp449delinsAspTyr)
c.1403_1405delinsACT (p.Gly468_Asp469delinsAspTyr)
19g.18785838G>ACA506117498COMPc.1503C>T (p.Gly501=)
c.1344C>T (p.Gly448=)
c.1404C>T (p.Gly468=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18785838G>CCA506117499COMPc.1503C>G (p.Gly501=)
c.1344C>G (p.Gly448=)
c.1404C>G (p.Gly468=)
19g.18785838G=CA2326525398COMPc.1503C= (p.Gly501=)
c.1344C= (p.Gly448=)
c.1404C= (p.Gly468=)
19g.18785838G>TCA506117500COMPc.1503C>A (p.Gly501=)
c.1344C>A (p.Gly448=)
c.1404C>A (p.Gly468=)
19g.18785839C>ACA404883777COMPc.1502G>T (p.Gly501Val)
c.1343G>T (p.Gly448Val)
c.1403G>T (p.Gly468Val)
19g.18785839C=CA2326525399COMPc.1502G= (p.Gly501=)
c.1343G= (p.Gly448=)
c.1403G= (p.Gly468=)
19g.18785839C>GCA404883784COMPc.1502G>C (p.Gly501Ala)
c.1343G>C (p.Gly448Ala)
c.1403G>C (p.Gly468Ala)
19g.18785839C>TCA404883780COMPc.1502G>A (p.Gly501Asp)
c.1343G>A (p.Gly448Asp)
c.1403G>A (p.Gly468Asp)
 ClinVar dbSNP
19g.18785841delCA2583621880COMPc.1502del (p.Gly501AlafsTer14)
c.1343del (p.Gly448AlafsTer14)
c.1403del (p.Gly468AlafsTer14)
 gnomAD v4
19g.18785840C>ACA404883787COMPc.1501G>T (p.Gly501Cys)
c.1342G>T (p.Gly448Cys)
c.1402G>T (p.Gly468Cys)
19g.18785840C>GCA404883788COMPc.1501G>C (p.Gly501Arg)
c.1342G>C (p.Gly448Arg)
c.1402G>C (p.Gly468Arg)
19g.18785840C>TCA404883789COMPc.1501G>A (p.Gly501Ser)
c.1342G>A (p.Gly448Ser)
c.1402G>A (p.Gly468Ser)
 ClinVar dbSNP
19g.18785841C>ACA506117236COMPc.1500G>T (p.Val500=)
c.1341G>T (p.Val447=)
c.1401G>T (p.Val467=)
19g.18785841C=CA2326525400COMPc.1500G= (p.Val500=)
c.1341G= (p.Val447=)
c.1401G= (p.Val467=)
19g.18785841C>GCA506117237COMPc.1500G>C (p.Val500=)
c.1341G>C (p.Val447=)
c.1401G>C (p.Val467=)
19g.18785841C>TCA306254743COMPc.1500G>A (p.Val500=)
c.1341G>A (p.Val447=)
c.1401G>A (p.Val467=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785842A>CCA404883790COMPc.1499T>G (p.Val500Gly)
c.1340T>G (p.Val447Gly)
c.1400T>G (p.Val467Gly)
19g.18785842A>GCA404883793COMPc.1499T>C (p.Val500Ala)
c.1340T>C (p.Val447Ala)
c.1400T>C (p.Val467Ala)
19g.18785842A>TCA404883805COMPc.1499T>A (p.Val500Glu)
c.1340T>A (p.Val447Glu)
c.1400T>A (p.Val467Glu)
19g.18785843C>ACA404883809COMPc.1498G>T (p.Val500Leu)
c.1339G>T (p.Val447Leu)
c.1399G>T (p.Val467Leu)
19g.18785843C=CA2326525401COMPc.1498G= (p.Val500=)
c.1339G= (p.Val447=)
c.1399G= (p.Val467=)
19g.18785843C>GCA404883815COMPc.1498G>C (p.Val500Leu)
c.1339G>C (p.Val447Leu)
c.1399G>C (p.Val467Leu)
19g.18785843C>TCA404883817COMPc.1498G>A (p.Val500Met)
c.1339G>A (p.Val447Met)
c.1399G>A (p.Val467Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18785844G>ACA506117241COMPc.1497C>T (p.Gly499=)
c.1338C>T (p.Gly446=)
c.1398C>T (p.Gly466=)
 dbSNP gnomAD v2 gnomAD v4
19g.18785844G>CCA506117242COMPc.1497C>G (p.Gly499=)
c.1338C>G (p.Gly446=)
c.1398C>G (p.Gly466=)
19g.18785844G=CA2326525402COMPc.1497C= (p.Gly499=)
c.1338C= (p.Gly446=)
c.1398C= (p.Gly466=)
19g.18785844G>TCA9316370COMPc.1497C>A (p.Gly499=)
c.1338C>A (p.Gly446=)
c.1398C>A (p.Gly466=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785845C>ACA9316371COMPc.1496G>T (p.Gly499Val)
c.1337G>T (p.Gly446Val)
c.1397G>T (p.Gly466Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785845C=CA2326525403COMPc.1496G= (p.Gly499=)
c.1337G= (p.Gly446=)
c.1397G= (p.Gly466=)
19g.18785845C>GCA404883825COMPc.1496G>C (p.Gly499Ala)
c.1337G>C (p.Gly446Ala)
c.1397G>C (p.Gly466Ala)
19g.18785845C>TCA404883829COMPc.1496G>A (p.Gly499Asp)
c.1337G>A (p.Gly446Asp)
c.1397G>A (p.Gly466Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.18785846C>ACA404883837COMPc.1495G>T (p.Gly499Cys)
c.1336G>T (p.Gly446Cys)
c.1396G>T (p.Gly466Cys)
19g.18785846C=CA2326525404COMPc.1495G= (p.Gly499=)
c.1336G= (p.Gly446=)
c.1396G= (p.Gly466=)
19g.18785846C>GCA404883844COMPc.1495G>C (p.Gly499Arg)
c.1336G>C (p.Gly446Arg)
c.1396G>C (p.Gly466Arg)
19g.18785846C>TCA404883840COMPc.1495G>A (p.Gly499Ser)
c.1336G>A (p.Gly446Ser)
c.1396G>A (p.Gly466Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.18785847G>ACA9316372COMPc.1494C>T (p.Asp498=)
c.1335C>T (p.Asp445=)
c.1395C>T (p.Asp465=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785847G>CCA404883847COMPc.1494C>G (p.Asp498Glu)
c.1335C>G (p.Asp445Glu)
c.1395C>G (p.Asp465Glu)
19g.18785847G=CA2326525405COMPc.1494C= (p.Asp498=)
c.1335C= (p.Asp445=)
c.1395C= (p.Asp465=)
19g.18785847G>TCA404883849COMPc.1494C>A (p.Asp498Glu)
c.1335C>A (p.Asp445Glu)
c.1395C>A (p.Asp465Glu)
19g.18785848T>ACA404883850COMPc.1493A>T (p.Asp498Val)
c.1334A>T (p.Asp445Val)
c.1394A>T (p.Asp465Val)
19g.18785848T>CCA404883853COMPc.1493A>G (p.Asp498Gly)
c.1334A>G (p.Asp445Gly)
c.1394A>G (p.Asp465Gly)
19g.18785848T>GCA404883857COMPc.1493A>C (p.Asp498Ala)
c.1334A>C (p.Asp445Ala)
c.1394A>C (p.Asp465Ala)
19g.18785849C>ACA404883868COMPc.1492G>T (p.Asp498Tyr)
c.1333G>T (p.Asp445Tyr)
c.1393G>T (p.Asp465Tyr)
19g.18785849C>GCA404883872COMPc.1492G>C (p.Asp498His)
c.1333G>C (p.Asp445His)
c.1393G>C (p.Asp465His)
19g.18785849C>TCA404883877COMPc.1492G>A (p.Asp498Asn)
c.1333G>A (p.Asp445Asn)
c.1393G>A (p.Asp465Asn)
19g.18785850C>ACA404883892COMPc.1491G>T (p.Arg497Ser)
c.1332G>T (p.Arg444Ser)
c.1392G>T (p.Arg464Ser)
19g.18785850C=CA2326525406COMPc.1491G= (p.Arg497=)
c.1332G= (p.Arg444=)
c.1392G= (p.Arg464=)
19g.18785850C>GCA9316374COMPc.1491G>C (p.Arg497Ser)
c.1332G>C (p.Arg444Ser)
c.1392G>C (p.Arg464Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785850C>TCA9316373COMPc.1491G>A (p.Arg497=)
c.1332G>A (p.Arg444=)
c.1392G>A (p.Arg464=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785851C>ACA404883896COMPc.1490G>T (p.Arg497Met)
c.1331G>T (p.Arg444Met)
c.1391G>T (p.Arg464Met)
 ClinVar
19g.18785851C=CA2326525407COMPc.1490G= (p.Arg497=)
c.1331G= (p.Arg444=)
c.1391G= (p.Arg464=)
19g.18785851C>GCA404883902COMPc.1490G>C (p.Arg497Thr)
c.1331G>C (p.Arg444Thr)
c.1391G>C (p.Arg464Thr)
 gnomAD v4
19g.18785851C>TCA404883899COMPc.1490G>A (p.Arg497Lys)
c.1331G>A (p.Arg444Lys)
c.1391G>A (p.Arg464Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.18785852C>ACA404883910COMPc.1490-1G>T (n.1490-1G>T)
c.1331-1G>T (n.1331-1G>T)
c.1391-1G>T (n.1391-1G>T)
19g.18785852C=CA2326525408COMPc.1490-1G= (n.1490-1G=)
c.1331-1G= (n.1331-1G=)
c.1391-1G= (n.1391-1G=)
19g.18785852C>GCA404883920COMPc.1490-1G>C (n.1490-1G>C)
c.1331-1G>C (n.1331-1G>C)
c.1391-1G>C (n.1391-1G>C)
19g.18785852C>TCA404883914COMPc.1490-1G>A (n.1490-1G>A)
c.1331-1G>A (n.1331-1G>A)
c.1391-1G>A (n.1391-1G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18785853T>ACA404883923COMPc.1490-2A>T (n.1490-2A>T)
c.1331-2A>T (n.1331-2A>T)
c.1391-2A>T (n.1391-2A>T)
19g.18785853T>CCA404883925COMPc.1490-2A>G (n.1490-2A>G)
c.1331-2A>G (n.1331-2A>G)
c.1391-2A>G (n.1391-2A>G)
 gnomAD v4
19g.18785853T>GCA404883928COMPc.1490-2A>C (n.1490-2A>C)
c.1331-2A>C (n.1331-2A>C)
c.1391-2A>C (n.1391-2A>C)
19g.18785854G>TCA2583621881COMPc.1490-3C>A (n.1490-3C>A)
c.1331-3C>A (n.1331-3C>A)
c.1391-3C>A (n.1391-3C>A)
 gnomAD v4

Number of alleles fetched