Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.113588268A>CCA378422104HABP2c.1582A>C (p.Ser528Arg)
c.1504A>C (p.Ser502Arg)
10g.113588268A>GCA378422106HABP2c.1582A>G (p.Ser528Gly)
c.1504A>G (p.Ser502Gly)
10g.113588268A>TCA378422107HABP2c.1582A>T (p.Ser528Cys)
c.1504A>T (p.Ser502Cys)
10g.113588269G>ACA378422112HABP2c.1583G>A (p.Ser528Asn)
c.1505G>A (p.Ser502Asn)
10g.113588269G>CCA378422109HABP2c.1583G>C (p.Ser528Thr)
c.1505G>C (p.Ser502Thr)
10g.113588269G=CA1937429168HABP2c.1583G= (p.Ser528=)
c.1505G= (p.Ser502=)
10g.113588269G>TCA5694085HABP2c.1583G>T (p.Ser528Ile)
c.1505G>T (p.Ser502Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588270C>ACA378422114HABP2c.1584C>A (p.Ser528Arg)
c.1506C>A (p.Ser502Arg)
10g.113588270C>GCA378422116HABP2c.1584C>G (p.Ser528Arg)
c.1506C>G (p.Ser502Arg)
10g.113588270C>TCA471516861HABP2c.1584C>T (p.Ser528=)
c.1506C>T (p.Ser502=)
10g.113588271T>ACA378422118HABP2c.1585T>A (p.Trp529Arg)
c.1507T>A (p.Trp503Arg)
10g.113588271T>CCA378422121HABP2c.1585T>C (p.Trp529Arg)
c.1507T>C (p.Trp503Arg)
10g.113588271T>GCA378422122HABP2c.1585T>G (p.Trp529Gly)
c.1507T>G (p.Trp503Gly)
10g.113588272G>ACA378422125HABP2c.1586G>A (p.Trp529Ter)
c.1508G>A (p.Trp503Ter)
 gnomAD v4
10g.113588272G>CCA378422128HABP2c.1586G>C (p.Trp529Ser)
c.1508G>C (p.Trp503Ser)
10g.113588272G>TCA378422126HABP2c.1586G>T (p.Trp529Leu)
c.1508G>T (p.Trp503Leu)
10g.113588275dupCA2610952449HABP2c.1589dup (p.Leu531ProfsTer27)
c.1511dup (p.Leu505ProfsTer27)
 gnomAD v4
10g.113588275delCA2574672125HABP2c.1589del (p.Gly530AlafsTer18)
c.1511del (p.Gly504AlafsTer18)
10g.113588273G>ACA378422130HABP2c.1587G>A (p.Trp529Ter)
c.1509G>A (p.Trp503Ter)
10g.113588273G>CCA378422132HABP2c.1587G>C (p.Trp529Cys)
c.1509G>C (p.Trp503Cys)
 dbSNP
10g.113588273G=CA1937429169HABP2c.1587G= (p.Trp529=)
c.1509G= (p.Trp503=)
10g.113588273G>TCA378422134HABP2c.1587G>T (p.Trp529Cys)
c.1509G>T (p.Trp503Cys)
 gnomAD v4
10g.113588274G>ACA378422136HABP2c.1588G>A (p.Gly530Ser)
c.1510G>A (p.Gly504Ser)
10g.113588274G>CCA378422138HABP2c.1588G>C (p.Gly530Arg)
c.1510G>C (p.Gly504Arg)
10g.113588274G>TCA378422139HABP2c.1588G>T (p.Gly530Cys)
c.1510G>T (p.Gly504Cys)
10g.113588275G>ACA378422142HABP2c.1589G>A (p.Gly530Asp)
c.1511G>A (p.Gly504Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.113588275G>CCA378422144HABP2c.1589G>C (p.Gly530Ala)
c.1511G>C (p.Gly504Ala)
10g.113588275G=CA1937429170HABP2c.1589G= (p.Gly530=)
c.1511G= (p.Gly504=)
10g.113588275G>TCA378422145HABP2c.1589G>T (p.Gly530Val)
c.1511G>T (p.Gly504Val)
10g.113588276C>ACA471516880HABP2c.1590C>A (p.Gly530=)
c.1512C>A (p.Gly504=)
10g.113588276C>GCA471516877HABP2c.1590C>G (p.Gly530=)
c.1512C>G (p.Gly504=)
10g.113588276C>TCA471516878HABP2c.1590C>T (p.Gly530=)
c.1512C>T (p.Gly504=)
 ClinVar dbSNP
10g.113588277C>ACA378422148HABP2c.1591C>A (p.Leu531Met)
c.1513C>A (p.Leu505Met)
10g.113588277C=CA1937429171HABP2c.1591C= (p.Leu531=)
c.1513C= (p.Leu505=)
10g.113588277C>GCA378422150HABP2c.1591C>G (p.Leu531Val)
c.1513C>G (p.Leu505Val)
 dbSNP
10g.113588277C>TCA214443789HABP2c.1591C>T (p.Leu531=)
c.1513C>T (p.Leu505=)
 dbSNP
10g.113588278T>ACA378422154HABP2c.1592T>A (p.Leu531Gln)
c.1514T>A (p.Leu505Gln)
10g.113588278T>CCA378422156HABP2c.1592T>C (p.Leu531Pro)
c.1514T>C (p.Leu505Pro)
10g.113588278T>GCA378422153HABP2c.1592T>G (p.Leu531Arg)
c.1514T>G (p.Leu505Arg)
10g.113588279G>ACA471516885HABP2c.1593G>A (p.Leu531=)
c.1515G>A (p.Leu505=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588279G>CCA471516886HABP2c.1593G>C (p.Leu531=)
c.1515G>C (p.Leu505=)
 gnomAD v4
10g.113588279G=CA1937429172HABP2c.1593G= (p.Leu531=)
c.1515G= (p.Leu505=)
10g.113588279G>TCA471516890HABP2c.1593G>T (p.Leu531=)
c.1515G>T (p.Leu505=)
10g.113588280G>ACA378422160HABP2c.1594G>A (p.Glu532Lys)
c.1516G>A (p.Glu506Lys)
 gnomAD v4
10g.113588280G>CCA378422162HABP2c.1594G>C (p.Glu532Gln)
c.1516G>C (p.Glu506Gln)
10g.113588280G=CA1937429173HABP2c.1594G= (p.Glu532=)
c.1516G= (p.Glu506=)
10g.113588280G>TCA5694087HABP2c.1594G>T (p.Glu532Ter)
c.1516G>T (p.Glu506Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588281_113588284dupCA5694086HABP2c.1595_1598dup (p.Cys533Ter)
c.1517_1520dup (p.Cys507Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588281A>CCA378422167HABP2c.1595A>C (p.Glu532Ala)
c.1517A>C (p.Glu506Ala)
10g.113588281A>GCA378422163HABP2c.1595A>G (p.Glu532Gly)
c.1517A>G (p.Glu506Gly)
10g.113588281A>TCA378422165HABP2c.1595A>T (p.Glu532Val)
c.1517A>T (p.Glu506Val)
10g.113588282G>ACA471516896HABP2c.1596G>A (p.Glu532=)
c.1518G>A (p.Glu506=)
10g.113588282G>CCA378422168HABP2c.1596G>C (p.Glu532Asp)
c.1518G>C (p.Glu506Asp)
10g.113588282G>TCA378422170HABP2c.1596G>T (p.Glu532Asp)
c.1518G>T (p.Glu506Asp)
10g.113588283T>ACA378422172HABP2c.1597T>A (p.Cys533Ser)
c.1519T>A (p.Cys507Ser)
10g.113588283T>CCA378422174HABP2c.1597T>C (p.Cys533Arg)
c.1519T>C (p.Cys507Arg)
10g.113588283T>GCA378422175HABP2c.1597T>G (p.Cys533Gly)
c.1519T>G (p.Cys507Gly)
 gnomAD v4
10g.113588284G>ACA378422177HABP2c.1598G>A (p.Cys533Tyr)
c.1520G>A (p.Cys507Tyr)
 dbSNP gnomAD v3 gnomAD v4
10g.113588284G>CCA378422178HABP2c.1598G>C (p.Cys533Ser)
c.1520G>C (p.Cys507Ser)
10g.113588284G=CA1937429174HABP2c.1598G= (p.Cys533=)
c.1520G= (p.Cys507=)
10g.113588284G>TCA214443799HABP2c.1598G>T (p.Cys533Phe)
c.1520G>T (p.Cys507Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588285T>ACA378422180HABP2c.1599T>A (p.Cys533Ter)
c.1521T>A (p.Cys507Ter)
10g.113588285T>CCA471516902HABP2c.1599T>C (p.Cys533=)
c.1521T>C (p.Cys507=)
10g.113588285T>GCA378422182HABP2c.1599T>G (p.Cys533Trp)
c.1521T>G (p.Cys507Trp)
 dbSNP gnomAD v4
10g.113588285T=CA1937429176HABP2c.1599T= (p.Cys533=)
c.1521T= (p.Cys507=)
10g.113588285_113588286delinsTGCA1937429175HABP2c.1599_1600delinsTG (p.Cys533=)
c.1521_1522delinsTG (p.Cys507=)
10g.113588286G>ACA378422188HABP2c.1600G>A (p.Gly534Arg)
c.1522G>A (p.Gly508Arg)
10g.113588286G>CCA378422185HABP2c.1600G>C (p.Gly534Arg)
c.1522G>C (p.Gly508Arg)
10g.113588286G>TCA378422186HABP2c.1600G>T (p.Gly534Trp)
c.1522G>T (p.Gly508Trp)
10g.113588288dupCA918764873HABP2c.1602dup (p.Lys535GlufsTer23)
c.1524dup (p.Lys509GlufsTer23)
 dbSNP
10g.113588288delCA596112886HABP2c.1602del (p.Lys535ArgfsTer13)
c.1524del (p.Lys509ArgfsTer13)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588287G>ACA211167HABP2c.1601G>A (p.Gly534Glu)
c.1523G>A (p.Gly508Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588287G>CCA378422191HABP2c.1601G>C (p.Gly534Ala)
c.1523G>C (p.Gly508Ala)
10g.113588287G=CA1937429177HABP2c.1601G= (p.Gly534=)
c.1523G= (p.Gly508=)
10g.113588287G>TCA378422193HABP2c.1601G>T (p.Gly534Val)
c.1523G>T (p.Gly508Val)
10g.113588288G>ACA471516915HABP2c.1602G>A (p.Gly534=)
c.1524G>A (p.Gly508=)
10g.113588288G>CCA471516913HABP2c.1602G>C (p.Gly534=)
c.1524G>C (p.Gly508=)
10g.113588288G>TCA471516911HABP2c.1602G>T (p.Gly534=)
c.1524G>T (p.Gly508=)
 gnomAD v4
10g.113588289A>CCA378422194HABP2c.1603A>C (p.Lys535Gln)
c.1525A>C (p.Lys509Gln)
10g.113588289A>GCA378422196HABP2c.1603A>G (p.Lys535Glu)
c.1525A>G (p.Lys509Glu)
10g.113588289A>TCA378422198HABP2c.1603A>T (p.Lys535Ter)
c.1525A>T (p.Lys509Ter)
10g.113588290A>CCA378422200HABP2c.1604A>C (p.Lys535Thr)
c.1526A>C (p.Lys509Thr)
 gnomAD v4
10g.113588290A>GCA378422202HABP2c.1604A>G (p.Lys535Arg)
c.1526A>G (p.Lys509Arg)
10g.113588290A>TCA378422204HABP2c.1604A>T (p.Lys535Met)
c.1526A>T (p.Lys509Met)
10g.113588291G>ACA471516922HABP2c.1605G>A (p.Lys535=)
c.1527G>A (p.Lys509=)
10g.113588291G>CCA378422206HABP2c.1605G>C (p.Lys535Asn)
c.1527G>C (p.Lys509Asn)
10g.113588291G>TCA378422208HABP2c.1605G>T (p.Lys535Asn)
c.1527G>T (p.Lys509Asn)
 gnomAD v4
10g.113588292A>CCA471516924HABP2c.1606A>C (p.Arg536=)
c.1528A>C (p.Arg510=)
 gnomAD v4
10g.113588292A>GCA378422213HABP2c.1606A>G (p.Arg536Gly)
c.1528A>G (p.Arg510Gly)
10g.113588292A>TCA378422210HABP2c.1606A>T (p.Arg536Trp)
c.1528A>T (p.Arg510Trp)
10g.113588292_113588303delinsAGGCCAGGGGTCCA1937429178HABP2c.1606_1617delinsAGGCCAGGGGTC (p.Arg536=)
c.1528_1539delinsAGGCCAGGGGTC (p.Arg510=)
10g.113588293G>ACA378422223HABP2c.1607G>A (p.Arg536Lys)
c.1529G>A (p.Arg510Lys)
10g.113588293G>CCA5694088HABP2c.1607G>C (p.Arg536Thr)
c.1529G>C (p.Arg510Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588293G=CA1937429179HABP2c.1607G= (p.Arg536=)
c.1529G= (p.Arg510=)
10g.113588293G>TCA378422227HABP2c.1607G>T (p.Arg536Met)
c.1529G>T (p.Arg510Met)
 dbSNP
10g.113588293_113588303delCA660072758HABP2c.1607_1617del (p.Arg536IlefsTer18)
c.1529_1539del (p.Arg510IlefsTer18)
 dbSNP gnomAD v3 gnomAD v4
10g.113588294G>ACA471516925HABP2c.1608G>A (p.Arg536=)
c.1530G>A (p.Arg510=)
10g.113588294G>CCA378422230HABP2c.1608G>C (p.Arg536Ser)
c.1530G>C (p.Arg510Ser)
10g.113588294G>TCA378422233HABP2c.1608G>T (p.Arg536Ser)
c.1530G>T (p.Arg510Ser)
10g.113588295C>ACA378422240HABP2c.1609C>A (p.Pro537Thr)
c.1531C>A (p.Pro511Thr)
10g.113588295C=CA1937429180HABP2c.1609C= (p.Pro537=)
c.1531C= (p.Pro511=)
10g.113588295C>GCA214443809HABP2c.1609C>G (p.Pro537Ala)
c.1531C>G (p.Pro511Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588295C>TCA378422235HABP2c.1609C>T (p.Pro537Ser)
c.1531C>T (p.Pro511Ser)
10g.113588296C>ACA378422242HABP2c.1610C>A (p.Pro537Gln)
c.1532C>A (p.Pro511Gln)
 dbSNP
10g.113588296C=CA1937429181HABP2c.1610C= (p.Pro537=)
c.1532C= (p.Pro511=)
10g.113588296C>GCA378422246HABP2c.1610C>G (p.Pro537Arg)
c.1532C>G (p.Pro511Arg)
10g.113588296C>TCA378422247HABP2c.1610C>T (p.Pro537Leu)
c.1532C>T (p.Pro511Leu)
10g.113588297A>CCA471516942HABP2c.1611A>C (p.Pro537=)
c.1533A>C (p.Pro511=)
10g.113588297A>GCA471516944HABP2c.1611A>G (p.Pro537=)
c.1533A>G (p.Pro511=)
10g.113588297A>TCA471516946HABP2c.1611A>T (p.Pro537=)
c.1533A>T (p.Pro511=)
10g.113588298G>ACA378422250HABP2c.1612G>A (p.Gly538Arg)
c.1534G>A (p.Gly512Arg)
10g.113588298G>CCA378422253HABP2c.1612G>C (p.Gly538Arg)
c.1534G>C (p.Gly512Arg)
10g.113588298G>TCA378422255HABP2c.1612G>T (p.Gly538Trp)
c.1534G>T (p.Gly512Trp)
 gnomAD v4
10g.113588301delCA2521013447HABP2c.1615del (p.Val539SerfsTer9)
c.1537del (p.Val513SerfsTer9)
10g.113588299G>ACA378422258HABP2c.1613G>A (p.Gly538Glu)
c.1535G>A (p.Gly512Glu)
 gnomAD v4
10g.113588299G>CCA378422262HABP2c.1613G>C (p.Gly538Ala)
c.1535G>C (p.Gly512Ala)
10g.113588299G>TCA378422260HABP2c.1613G>T (p.Gly538Val)
c.1535G>T (p.Gly512Val)
10g.113588300G>ACA471516954HABP2c.1614G>A (p.Gly538=)
c.1536G>A (p.Gly512=)
 dbSNP gnomAD v2
10g.113588300G>CCA471516955HABP2c.1614G>C (p.Gly538=)
c.1536G>C (p.Gly512=)
10g.113588300G=CA1937429182HABP2c.1614G= (p.Gly538=)
c.1536G= (p.Gly512=)
10g.113588300G>TCA471516957HABP2c.1614G>T (p.Gly538=)
c.1536G>T (p.Gly512=)
 gnomAD v4
10g.113588301G>ACA378422264HABP2c.1615G>A (p.Val539Ile)
c.1537G>A (p.Val513Ile)
10g.113588301G>CCA378422267HABP2c.1615G>C (p.Val539Leu)
c.1537G>C (p.Val513Leu)
10g.113588301G>TCA378422269HABP2c.1615G>T (p.Val539Phe)
c.1537G>T (p.Val513Phe)
10g.113588302T>ACA378422272HABP2c.1616T>A (p.Val539Asp)
c.1538T>A (p.Val513Asp)
10g.113588302T>CCA378422274HABP2c.1616T>C (p.Val539Ala)
c.1538T>C (p.Val513Ala)
10g.113588302T>GCA378422276HABP2c.1616T>G (p.Val539Gly)
c.1538T>G (p.Val513Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.113588302T=CA1937429183HABP2c.1616T= (p.Val539=)
c.1538T= (p.Val513=)
10g.113588303C>ACA471516964HABP2c.1617C>A (p.Val539=)
c.1539C>A (p.Val513=)
10g.113588303C=CA1937429184HABP2c.1617C= (p.Val539=)
c.1539C= (p.Val513=)
10g.113588303C>GCA471516965HABP2c.1617C>G (p.Val539=)
c.1539C>G (p.Val513=)
 dbSNP gnomAD v2 gnomAD v4
10g.113588303C>TCA471516966HABP2c.1617C>T (p.Val539=)
c.1539C>T (p.Val513=)
10g.113588304T>ACA378422279HABP2c.1618T>A (p.Tyr540Asn)
c.1540T>A (p.Tyr514Asn)
10g.113588304T>CCA378422282HABP2c.1618T>C (p.Tyr540His)
c.1540T>C (p.Tyr514His)
10g.113588304T>GCA378422284HABP2c.1618T>G (p.Tyr540Asp)
c.1540T>G (p.Tyr514Asp)
10g.113588305A>CCA378422286HABP2c.1619A>C (p.Tyr540Ser)
c.1541A>C (p.Tyr514Ser)
10g.113588305A>GCA378422288HABP2c.1619A>G (p.Tyr540Cys)
c.1541A>G (p.Tyr514Cys)
10g.113588305A>TCA378422290HABP2c.1619A>T (p.Tyr540Phe)
c.1541A>T (p.Tyr514Phe)
10g.113588306C>ACA378422293HABP2c.1620C>A (p.Tyr540Ter)
c.1542C>A (p.Tyr514Ter)
10g.113588306C=CA1937429185HABP2c.1620C= (p.Tyr540=)
c.1542C= (p.Tyr514=)
10g.113588306C>GCA378422296HABP2c.1620C>G (p.Tyr540Ter)
c.1542C>G (p.Tyr514Ter)
10g.113588306C>TCA471516977HABP2c.1620C>T (p.Tyr540=)
c.1542C>T (p.Tyr514=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588307A=CA1937429186HABP2c.1621A= (p.Thr541=)
c.1543A= (p.Thr515=)
10g.113588307A>CCA378422299HABP2c.1621A>C (p.Thr541Pro)
c.1543A>C (p.Thr515Pro)
 dbSNP
10g.113588307A>GCA378422304HABP2c.1621A>G (p.Thr541Ala)
c.1543A>G (p.Thr515Ala)
10g.113588307A>TCA378422301HABP2c.1621A>T (p.Thr541Ser)
c.1543A>T (p.Thr515Ser)
10g.113588308C>ACA378422307HABP2c.1622C>A (p.Thr541Asn)
c.1544C>A (p.Thr515Asn)
 gnomAD v4
10g.113588308C=CA1937429187HABP2c.1622C= (p.Thr541=)
c.1544C= (p.Thr515=)
10g.113588308C>GCA378422309HABP2c.1622C>G (p.Thr541Ser)
c.1544C>G (p.Thr515Ser)
10g.113588308C>TCA378422312HABP2c.1622C>T (p.Thr541Ile)
c.1544C>T (p.Thr515Ile)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.113588309C>ACA471516984HABP2c.1623C>A (p.Thr541=)
c.1545C>A (p.Thr515=)
 dbSNP gnomAD v2 gnomAD v4
10g.113588309C=CA1937429188HABP2c.1623C= (p.Thr541=)
c.1545C= (p.Thr515=)
10g.113588309C>GCA471516985HABP2c.1623C>G (p.Thr541=)
c.1545C>G (p.Thr515=)
10g.113588309C>TCA471516986HABP2c.1623C>T (p.Thr541=)
c.1545C>T (p.Thr515=)
10g.113588310C>ACA378422315HABP2c.1624C>A (p.Gln542Lys)
c.1546C>A (p.Gln516Lys)
 dbSNP
10g.113588310C=CA1937429190HABP2c.1624C= (p.Gln542=)
c.1546C= (p.Gln516=)
10g.113588310C>GCA378422317HABP2c.1624C>G (p.Gln542Glu)
c.1546C>G (p.Gln516Glu)
10g.113588310C>TCA378422320HABP2c.1624C>T (p.Gln542Ter)
c.1546C>T (p.Gln516Ter)
10g.113588310_113588312delinsCAACA1937429189HABP2c.1624_1626delinsCAA (p.Gln542=)
c.1546_1548delinsCAA (p.Gln516=)
10g.113588311A>CCA378422323HABP2c.1625A>C (p.Gln542Pro)
c.1547A>C (p.Gln516Pro)
10g.113588311A>GCA378422325HABP2c.1625A>G (p.Gln542Arg)
c.1547A>G (p.Gln516Arg)
10g.113588311A>TCA378422327HABP2c.1625A>T (p.Gln542Leu)
c.1547A>T (p.Gln516Leu)
10g.113588311_113588312delCA596112887HABP2c.1625_1626del (p.Gln542ArgfsTer15)
c.1547_1548del (p.Gln516ArgfsTer15)
 dbSNP gnomAD v2 gnomAD v4
10g.113588312A=CA1937429191HABP2c.1626A= (p.Gln542=)
c.1548A= (p.Gln516=)
10g.113588312A>CCA378422331HABP2c.1626A>C (p.Gln542His)
c.1548A>C (p.Gln516His)
 gnomAD v4 COSMIC
10g.113588312A>GCA471516993HABP2c.1626A>G (p.Gln542=)
c.1548A>G (p.Gln516=)
 dbSNP gnomAD v4
10g.113588312A>TCA378422332HABP2c.1626A>T (p.Gln542His)
c.1548A>T (p.Gln516His)
10g.113588313G>ACA378422340HABP2c.1627G>A (p.Val543Ile)
c.1549G>A (p.Val517Ile)
 gnomAD v4
10g.113588313G>CCA378422338HABP2c.1627G>C (p.Val543Leu)
c.1549G>C (p.Val517Leu)
10g.113588313G=CA1937429192HABP2c.1627G= (p.Val543=)
c.1549G= (p.Val517=)
10g.113588313G>TCA378422336HABP2c.1627G>T (p.Val543Phe)
c.1549G>T (p.Val517Phe)
 dbSNP gnomAD v4
10g.113588314T>ACA378422342HABP2c.1628T>A (p.Val543Asp)
c.1550T>A (p.Val517Asp)
10g.113588314T>CCA378422345HABP2c.1628T>C (p.Val543Ala)
c.1550T>C (p.Val517Ala)
10g.113588314T>GCA378422347HABP2c.1628T>G (p.Val543Gly)
c.1550T>G (p.Val517Gly)
10g.113588315T>ACA471516996HABP2c.1629T>A (p.Val543=)
c.1551T>A (p.Val517=)
10g.113588315T>CCA471516997HABP2c.1629T>C (p.Val543=)
c.1551T>C (p.Val517=)
10g.113588315T>GCA471516998HABP2c.1629T>G (p.Val543=)
c.1551T>G (p.Val517=)
10g.113588316A>CCA378422350HABP2c.1630A>C (p.Thr544Pro)
c.1552A>C (p.Thr518Pro)
10g.113588316A>GCA378422352HABP2c.1630A>G (p.Thr544Ala)
c.1552A>G (p.Thr518Ala)
10g.113588316A>TCA378422354HABP2c.1630A>T (p.Thr544Ser)
c.1552A>T (p.Thr518Ser)
10g.113588317C>ACA378422357HABP2c.1631C>A (p.Thr544Asn)
c.1553C>A (p.Thr518Asn)
10g.113588317C>GCA378422361HABP2c.1631C>G (p.Thr544Ser)
c.1553C>G (p.Thr518Ser)
10g.113588317C>TCA378422363HABP2c.1631C>T (p.Thr544Ile)
c.1553C>T (p.Thr518Ile)
10g.113588318C>ACA471517009HABP2c.1632C>A (p.Thr544=)
c.1554C>A (p.Thr518=)
10g.113588318C>GCA471517008HABP2c.1632C>G (p.Thr544=)
c.1554C>G (p.Thr518=)
 gnomAD v4
10g.113588318C>TCA471517010HABP2c.1632C>T (p.Thr544=)
c.1554C>T (p.Thr518=)
10g.113588319A=CA1937429193HABP2c.1633A= (p.Lys545=)
c.1555A= (p.Lys519=)
10g.113588319A>CCA214443813HABP2c.1633A>C (p.Lys545Gln)
c.1555A>C (p.Lys519Gln)
 dbSNP
10g.113588319A>GCA214443816HABP2c.1633A>G (p.Lys545Glu)
c.1555A>G (p.Lys519Glu)
 dbSNP
10g.113588319A>TCA378422369HABP2c.1633A>T (p.Lys545Ter)
c.1555A>T (p.Lys519Ter)
10g.113588320A>CCA378422375HABP2c.1634A>C (p.Lys545Thr)
c.1556A>C (p.Lys519Thr)
10g.113588320A>GCA378422373HABP2c.1634A>G (p.Lys545Arg)
c.1556A>G (p.Lys519Arg)
 gnomAD v4
10g.113588320A>TCA378422371HABP2c.1634A>T (p.Lys545Ile)
c.1556A>T (p.Lys519Ile)
10g.113588321A>CCA378422379HABP2c.1635A>C (p.Lys545Asn)
c.1557A>C (p.Lys519Asn)
10g.113588321A>GCA471517018HABP2c.1635A>G (p.Lys545=)
c.1557A>G (p.Lys519=)
10g.113588321A>TCA378422381HABP2c.1635A>T (p.Lys545Asn)
c.1557A>T (p.Lys519Asn)
10g.113588322T>ACA378422383HABP2c.1636T>A (p.Phe546Ile)
c.1558T>A (p.Phe520Ile)
10g.113588322T>CCA378422385HABP2c.1636T>C (p.Phe546Leu)
c.1558T>C (p.Phe520Leu)
10g.113588322T>GCA5694089HABP2c.1636T>G (p.Phe546Val)
c.1558T>G (p.Phe520Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588322T=CA1937429194HABP2c.1636T= (p.Phe546=)
c.1558T= (p.Phe520=)
10g.113588323T>ACA378422395HABP2c.1637T>A (p.Phe546Tyr)
c.1559T>A (p.Phe520Tyr)
10g.113588323T>CCA5694090HABP2c.1637T>C (p.Phe546Ser)
c.1559T>C (p.Phe520Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588323T>GCA378422400HABP2c.1637T>G (p.Phe546Cys)
c.1559T>G (p.Phe520Cys)
10g.113588323T=CA1937429195HABP2c.1637T= (p.Phe546=)
c.1559T= (p.Phe520=)
10g.113588324C>ACA378422402HABP2c.1638C>A (p.Phe546Leu)
c.1560C>A (p.Phe520Leu)
10g.113588324C=CA1937429196HABP2c.1638C= (p.Phe546=)
c.1560C= (p.Phe520=)
10g.113588324C>GCA378422404HABP2c.1638C>G (p.Phe546Leu)
c.1560C>G (p.Phe520Leu)
10g.113588324C>TCA471517026HABP2c.1638C>T (p.Phe546=)
c.1560C>T (p.Phe520=)
 dbSNP gnomAD v2 gnomAD v4
10g.113588325C>ACA378422407HABP2c.1639C>A (p.Leu547Met)
c.1561C>A (p.Leu521Met)
10g.113588325C=CA1937429197HABP2c.1639C= (p.Leu547=)
c.1561C= (p.Leu521=)
10g.113588325C>GCA378422408HABP2c.1639C>G (p.Leu547Val)
c.1561C>G (p.Leu521Val)
10g.113588325C>TCA214443831HABP2c.1639C>T (p.Leu547=)
c.1561C>T (p.Leu521=)
 dbSNP gnomAD v3 gnomAD v4
10g.113588326T>ACA378422417HABP2c.1640T>A (p.Leu547Gln)
c.1562T>A (p.Leu521Gln)
10g.113588326T>CCA378422414HABP2c.1640T>C (p.Leu547Pro)
c.1562T>C (p.Leu521Pro)
10g.113588326T>GCA378422411HABP2c.1640T>G (p.Leu547Arg)
c.1562T>G (p.Leu521Arg)
10g.113588327G>ACA471517032HABP2c.1641G>A (p.Leu547=)
c.1563G>A (p.Leu521=)
 dbSNP gnomAD v2 gnomAD v4
10g.113588327G>CCA471517039HABP2c.1641G>C (p.Leu547=)
c.1563G>C (p.Leu521=)
10g.113588327G=CA1937429198HABP2c.1641G= (p.Leu547=)
c.1563G= (p.Leu521=)
10g.113588327G>TCA471517041HABP2c.1641G>T (p.Leu547=)
c.1563G>T (p.Leu521=)
10g.113588328A>CCA378422420HABP2c.1642A>C (p.Asn548His)
c.1564A>C (p.Asn522His)
10g.113588328A>GCA378422423HABP2c.1642A>G (p.Asn548Asp)
c.1564A>G (p.Asn522Asp)
 gnomAD v4
10g.113588328A>TCA378422430HABP2c.1642A>T (p.Asn548Tyr)
c.1564A>T (p.Asn522Tyr)
10g.113588329A=CA1937429199HABP2c.1643A= (p.Asn548=)
c.1565A= (p.Asn522=)
10g.113588329A>CCA378422433HABP2c.1643A>C (p.Asn548Thr)
c.1565A>C (p.Asn522Thr)
10g.113588329A>GCA214443833HABP2c.1643A>G (p.Asn548Ser)
c.1565A>G (p.Asn522Ser)
 dbSNP gnomAD v4
10g.113588329A>TCA378422438HABP2c.1643A>T (p.Asn548Ile)
c.1565A>T (p.Asn522Ile)
 gnomAD v4
10g.113588330T>ACA378422441HABP2c.1644T>A (p.Asn548Lys)
c.1566T>A (p.Asn522Lys)
 gnomAD v4
10g.113588330T>CCA5694091HABP2c.1644T>C (p.Asn548=)
c.1566T>C (p.Asn522=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588330T>GCA378422446HABP2c.1644T>G (p.Asn548Lys)
c.1566T>G (p.Asn522Lys)
10g.113588330T=CA1937429200HABP2c.1644T= (p.Asn548=)
c.1566T= (p.Asn522=)
10g.113588331T>ACA378422449HABP2c.1645T>A (p.Trp549Arg)
c.1567T>A (p.Trp523Arg)
10g.113588331T>CCA378422451HABP2c.1645T>C (p.Trp549Arg)
c.1567T>C (p.Trp523Arg)
10g.113588331T>GCA378422454HABP2c.1645T>G (p.Trp549Gly)
c.1567T>G (p.Trp523Gly)
10g.113588332G>ACA5694092HABP2c.1646G>A (p.Trp549Ter)
c.1568G>A (p.Trp523Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588332G>CCA378422463HABP2c.1646G>C (p.Trp549Ser)
c.1568G>C (p.Trp523Ser)
10g.113588332G=CA1937429201HABP2c.1646G= (p.Trp549=)
c.1568G= (p.Trp523=)
10g.113588332G>TCA378422459HABP2c.1646G>T (p.Trp549Leu)
c.1568G>T (p.Trp523Leu)
 gnomAD v4
10g.113588333G>ACA378422467HABP2c.1647G>A (p.Trp549Ter)
c.1569G>A (p.Trp523Ter)
 gnomAD v4 COSMIC
10g.113588333G>CCA378422472HABP2c.1647G>C (p.Trp549Cys)
c.1569G>C (p.Trp523Cys)
10g.113588333G>TCA378422470HABP2c.1647G>T (p.Trp549Cys)
c.1569G>T (p.Trp523Cys)
10g.113588334delCA2741130563HABP2c.1648del (p.Ile550SerfsTer27)
c.1570del (p.Ile524SerfsTer27)
10g.113588334A>CCA378422475HABP2c.1648A>C (p.Ile550Leu)
c.1570A>C (p.Ile524Leu)
10g.113588334A>GCA378422478HABP2c.1648A>G (p.Ile550Val)
c.1570A>G (p.Ile524Val)
10g.113588334A>TCA378422480HABP2c.1648A>T (p.Ile550Phe)
c.1570A>T (p.Ile524Phe)
10g.113588335T>ACA378422483HABP2c.1649T>A (p.Ile550Asn)
c.1571T>A (p.Ile524Asn)
10g.113588335T>CCA378422485HABP2c.1649T>C (p.Ile550Thr)
c.1571T>C (p.Ile524Thr)
10g.113588335T>GCA378422486HABP2c.1649T>G (p.Ile550Ser)
c.1571T>G (p.Ile524Ser)
10g.113588336C>ACA471517069HABP2c.1650C>A (p.Ile550=)
c.1572C>A (p.Ile524=)
10g.113588336C>GCA378422490HABP2c.1650C>G (p.Ile550Met)
c.1572C>G (p.Ile524Met)
 gnomAD v4
10g.113588336C>TCA471517071HABP2c.1650C>T (p.Ile550=)
c.1572C>T (p.Ile524=)
10g.113588337A=CA1937429202HABP2c.1651A= (p.Lys551=)
c.1573A= (p.Lys525=)
10g.113588337A>CCA378422503HABP2c.1651A>C (p.Lys551Gln)
c.1573A>C (p.Lys525Gln)
10g.113588337A>GCA214443838HABP2c.1651A>G (p.Lys551Glu)
c.1573A>G (p.Lys525Glu)
 dbSNP gnomAD v3 gnomAD v4
10g.113588337A>TCA378422494HABP2c.1651A>T (p.Lys551Ter)
c.1573A>T (p.Lys525Ter)
10g.113588338A>CCA378422507HABP2c.1652A>C (p.Lys551Thr)
c.1574A>C (p.Lys525Thr)
10g.113588338A>GCA378422508HABP2c.1652A>G (p.Lys551Arg)
c.1574A>G (p.Lys525Arg)
10g.113588338A>TCA378422509HABP2c.1652A>T (p.Lys551Ile)
c.1574A>T (p.Lys525Ile)
10g.113588339A>CCA378422511HABP2c.1653A>C (p.Lys551Asn)
c.1575A>C (p.Lys525Asn)
10g.113588339A>GCA471517074HABP2c.1653A>G (p.Lys551=)
c.1575A>G (p.Lys525=)
 gnomAD v4
10g.113588339A>TCA378422512HABP2c.1653A>T (p.Lys551Asn)
c.1575A>T (p.Lys525Asn)
10g.113588340G>ACA378422519HABP2c.1654G>A (p.Ala552Thr)
c.1576G>A (p.Ala526Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.113588340G>CCA378422514HABP2c.1654G>C (p.Ala552Pro)
c.1576G>C (p.Ala526Pro)
10g.113588340G=CA1937429204HABP2c.1654G= (p.Ala552=)
c.1576G= (p.Ala526=)
10g.113588340G>TCA378422517HABP2c.1654G>T (p.Ala552Ser)
c.1576G>T (p.Ala526Ser)
10g.113588340_113588343delinsGCCACA1937429203HABP2c.1654_1657delinsGCCA (p.Ala552=)
c.1576_1579delinsGCCA (p.Ala526=)
10g.113588341C>ACA378422521HABP2c.1655C>A (p.Ala552Asp)
c.1577C>A (p.Ala526Asp)
10g.113588341C>GCA378422523HABP2c.1655C>G (p.Ala552Gly)
c.1577C>G (p.Ala526Gly)
10g.113588341C>TCA378422524HABP2c.1655C>T (p.Ala552Val)
c.1577C>T (p.Ala526Val)
10g.113588344_113588346delCA5694093HABP2c.1658_1660del (p.Thr553del)
c.1580_1582del (p.Thr527del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588342C>ACA471517078HABP2c.1656C>A (p.Ala552=)
c.1578C>A (p.Ala526=)
10g.113588342C=CA1937429205HABP2c.1656C= (p.Ala552=)
c.1578C= (p.Ala526=)
10g.113588342C>GCA471517081HABP2c.1656C>G (p.Ala552=)
c.1578C>G (p.Ala526=)
 COSMIC
10g.113588342C>TCA471517084HABP2c.1656C>T (p.Ala552=)
c.1578C>T (p.Ala526=)
 dbSNP
10g.113588343A>CCA378422525HABP2c.1657A>C (p.Thr553Pro)
c.1579A>C (p.Thr527Pro)
10g.113588343A>GCA378422526HABP2c.1657A>G (p.Thr553Ala)
c.1579A>G (p.Thr527Ala)
10g.113588343A>TCA378422527HABP2c.1657A>T (p.Thr553Ser)
c.1579A>T (p.Thr527Ser)
10g.113588344C>ACA378422528HABP2c.1658C>A (p.Thr553Asn)
c.1580C>A (p.Thr527Asn)
10g.113588344C=CA1937429206HABP2c.1658C= (p.Thr553=)
c.1580C= (p.Thr527=)
10g.113588344C>GCA5694094HABP2c.1658C>G (p.Thr553Ser)
c.1580C>G (p.Thr527Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588344C>TCA378422529HABP2c.1658C>T (p.Thr553Ile)
c.1580C>T (p.Thr527Ile)
10g.113588345C>ACA471517091HABP2c.1659C>A (p.Thr553=)
c.1581C>A (p.Thr527=)
10g.113588345C>GCA471517094HABP2c.1659C>G (p.Thr553=)
c.1581C>G (p.Thr527=)
10g.113588345C>TCA471517093HABP2c.1659C>T (p.Thr553=)
c.1581C>T (p.Thr527=)
 gnomAD v4
10g.113588347_113588349dupCA596112888HABP2c.1661_1663dup (p.Ile554_Lys555insIle)
c.1583_1585dup (p.Ile528_Lys529insIle)
 dbSNP gnomAD v2 gnomAD v4
10g.113588346A=CA1937429207HABP2c.1660A= (p.Ile554=)
c.1582A= (p.Ile528=)
10g.113588346A>CCA378422531HABP2c.1660A>C (p.Ile554Leu)
c.1582A>C (p.Ile528Leu)
10g.113588346A>GCA5694095HABP2c.1660A>G (p.Ile554Val)
c.1582A>G (p.Ile528Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588346A>TCA378422535HABP2c.1660A>T (p.Ile554Phe)
c.1582A>T (p.Ile528Phe)
10g.113588347T>ACA378422538HABP2c.1661T>A (p.Ile554Asn)
c.1583T>A (p.Ile528Asn)
10g.113588347T>CCA5694096HABP2c.1661T>C (p.Ile554Thr)
c.1583T>C (p.Ile528Thr)
 dbSNP ExAC gnomAD v2
10g.113588347T>GCA378422540HABP2c.1661T>G (p.Ile554Ser)
c.1583T>G (p.Ile528Ser)
10g.113588347T=CA1937429208HABP2c.1661T= (p.Ile554=)
c.1583T= (p.Ile528=)
10g.113588347_113588348delinsTCCA1937429209HABP2c.1661_1662delinsTC (p.Ile554=)
c.1583_1584delinsTC (p.Ile528=)
10g.113588348delCA596112889HABP2c.1662del (p.Ser556ValfsTer21)
c.1584del (p.Ser530ValfsTer21)
 dbSNP gnomAD v2 gnomAD v4
10g.113588348C>ACA471517106HABP2c.1662C>A (p.Ile554=)
c.1584C>A (p.Ile528=)
10g.113588348C=CA1937429210HABP2c.1662C= (p.Ile554=)
c.1584C= (p.Ile528=)
10g.113588348C>GCA378422543HABP2c.1662C>G (p.Ile554Met)
c.1584C>G (p.Ile528Met)
10g.113588348C>TCA5694097HABP2c.1662C>T (p.Ile554=)
c.1584C>T (p.Ile528=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588349A=CA1937429211HABP2c.1663A= (p.Lys555=)
c.1585A= (p.Lys529=)
10g.113588349A>CCA378422548HABP2c.1663A>C (p.Lys555Gln)
c.1585A>C (p.Lys529Gln)
10g.113588349A>GCA378422550HABP2c.1663A>G (p.Lys555Glu)
c.1585A>G (p.Lys529Glu)
 gnomAD v4
10g.113588349A>TCA378422552HABP2c.1663A>T (p.Lys555Ter)
c.1585A>T (p.Lys529Ter)
 dbSNP gnomAD v2 gnomAD v4
10g.113588350A>CCA378422554HABP2c.1664A>C (p.Lys555Thr)
c.1586A>C (p.Lys529Thr)
10g.113588350A>GCA378422556HABP2c.1664A>G (p.Lys555Arg)
c.1586A>G (p.Lys529Arg)
10g.113588350A>TCA378422557HABP2c.1664A>T (p.Lys555Ile)
c.1586A>T (p.Lys529Ile)
10g.113588351A>CCA378422558HABP2c.1665A>C (p.Lys555Asn)
c.1587A>C (p.Lys529Asn)
10g.113588351A>GCA471517133HABP2c.1665A>G (p.Lys555=)
c.1587A>G (p.Lys529=)
10g.113588351A>TCA378422560HABP2c.1665A>T (p.Lys555Asn)
c.1587A>T (p.Lys529Asn)
10g.113588351_113588353dupCA2610952450HABP2c.1665_1667dup (p.Lys555_Ser556insArg)
c.1587_1589dup (p.Lys529_Ser530insArg)
 gnomAD v4
10g.113588352A>CCA378422562HABP2c.1666A>C (p.Ser556Arg)
c.1588A>C (p.Ser530Arg)
10g.113588352A>GCA378422564HABP2c.1666A>G (p.Ser556Gly)
c.1588A>G (p.Ser530Gly)
10g.113588352A>TCA378422565HABP2c.1666A>T (p.Ser556Cys)
c.1588A>T (p.Ser530Cys)
10g.113588353delCA2574672126HABP2c.1667del (p.Ser556MetfsTer21)
c.1589del (p.Ser530MetfsTer21)
 gnomAD v4
10g.113588353G>ACA378422570HABP2c.1667G>A (p.Ser556Asn)
c.1589G>A (p.Ser530Asn)
10g.113588353G>CCA378422567HABP2c.1667G>C (p.Ser556Thr)
c.1589G>C (p.Ser530Thr)
10g.113588353G>TCA378422568HABP2c.1667G>T (p.Ser556Ile)
c.1589G>T (p.Ser530Ile)
10g.113588354T>ACA378422572HABP2c.1668T>A (p.Ser556Arg)
c.1590T>A (p.Ser530Arg)
10g.113588354T>CCA471517147HABP2c.1668T>C (p.Ser556=)
c.1590T>C (p.Ser530=)
10g.113588354T>GCA378422574HABP2c.1668T>G (p.Ser556Arg)
c.1590T>G (p.Ser530Arg)
10g.113588355G>ACA378422576HABP2c.1669G>A (p.Glu557Lys)
c.1591G>A (p.Glu531Lys)
 COSMIC
10g.113588355G>CCA378422578HABP2c.1669G>C (p.Glu557Gln)
c.1591G>C (p.Glu531Gln)
 gnomAD v4
10g.113588355G>TCA378422580HABP2c.1669G>T (p.Glu557Ter)
c.1591G>T (p.Glu531Ter)
10g.113588356A=CA1937429212HABP2c.1670A= (p.Glu557=)
c.1592A= (p.Glu531=)
10g.113588356A>CCA378422581HABP2c.1670A>C (p.Glu557Ala)
c.1592A>C (p.Glu531Ala)
10g.113588356A>GCA378422583HABP2c.1670A>G (p.Glu557Gly)
c.1592A>G (p.Glu531Gly)
 gnomAD v4
10g.113588356A>TCA378422584HABP2c.1670A>T (p.Glu557Val)
c.1592A>T (p.Glu531Val)
10g.113588358delCA2574672127HABP2c.1672del (p.Ser558ValfsTer19)
c.1594del (p.Ser532ValfsTer19)
10g.113588357A>CCA378422587HABP2c.1671A>C (p.Glu557Asp)
c.1593A>C (p.Glu531Asp)
10g.113588357A>GCA471517156HABP2c.1671A>G (p.Glu557=)
c.1593A>G (p.Glu531=)
10g.113588357A>TCA378422588HABP2c.1671A>T (p.Glu557Asp)
c.1593A>T (p.Glu531Asp)
10g.113588357_113588360dupCA5694098HABP2c.1671_1674dup (p.Gly559LysfsTer?)
c.1593_1596dup (p.Gly533LysfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588358A>CCA378422591HABP2c.1672A>C (p.Ser558Arg)
c.1594A>C (p.Ser532Arg)
10g.113588358A>GCA378422597HABP2c.1672A>G (p.Ser558Gly)
c.1594A>G (p.Ser532Gly)
10g.113588358A>TCA378422595HABP2c.1672A>T (p.Ser558Cys)
c.1594A>T (p.Ser532Cys)
10g.113588359G>ACA5694099HABP2c.1673G>A (p.Ser558Asn)
c.1595G>A (p.Ser532Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588359G>CCA378422604HABP2c.1673G>C (p.Ser558Thr)
c.1595G>C (p.Ser532Thr)
10g.113588359G=CA1937429213HABP2c.1673G= (p.Ser558=)
c.1595G= (p.Ser532=)
10g.113588359G>TCA378422601HABP2c.1673G>T (p.Ser558Ile)
c.1595G>T (p.Ser532Ile)
10g.113588360T>ACA378422607HABP2c.1674T>A (p.Ser558Arg)
c.1596T>A (p.Ser532Arg)
10g.113588360T>CCA471517165HABP2c.1674T>C (p.Ser558=)
c.1596T>C (p.Ser532=)
 dbSNP
10g.113588360T>GCA378422610HABP2c.1674T>G (p.Ser558Arg)
c.1596T>G (p.Ser532Arg)
10g.113588361G>ACA378422614HABP2c.1675G>A (p.Gly559Ser)
c.1597G>A (p.Gly533Ser)
10g.113588361G>CCA378422620HABP2c.1675G>C (p.Gly559Arg)
c.1597G>C (p.Gly533Arg)
10g.113588361G>TCA378422623HABP2c.1675G>T (p.Gly559Cys)
c.1597G>T (p.Gly533Cys)
10g.113588362G>ACA378422625HABP2c.1676G>A (p.Gly559Asp)
c.1598G>A (p.Gly533Asp)
10g.113588362G>CCA378422627HABP2c.1676G>C (p.Gly559Ala)
c.1598G>C (p.Gly533Ala)
10g.113588362G>TCA378422628HABP2c.1676G>T (p.Gly559Val)
c.1598G>T (p.Gly533Val)
 gnomAD v4
10g.113588363C>ACA471517171HABP2c.1677C>A (p.Gly559=)
c.1599C>A (p.Gly533=)
10g.113588363C>GCA471517172HABP2c.1677C>G (p.Gly559=)
c.1599C>G (p.Gly533=)
10g.113588363C>TCA471517176HABP2c.1677C>T (p.Gly559=)
c.1599C>T (p.Gly533=)
 gnomAD v4
10g.113588364T>ACA378422632HABP2c.1678T>A (p.Phe560Ile)
c.1600T>A (p.Phe534Ile)
10g.113588364T>CCA378422640HABP2c.1678T>C (p.Phe560Leu)
c.1600T>C (p.Phe534Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.113588364T>GCA378422641HABP2c.1678T>G (p.Phe560Val)
c.1600T>G (p.Phe534Val)
 gnomAD v4
10g.113588364T=CA1937429214HABP2c.1678T= (p.Phe560=)
c.1600T= (p.Phe534=)
10g.113588365T>ACA378422650HABP2c.1679T>A (p.Phe560Tyr)
c.1601T>A (p.Phe534Tyr)
10g.113588365T>CCA378422649HABP2c.1679T>C (p.Phe560Ser)
c.1601T>C (p.Phe534Ser)
10g.113588365T>GCA378422646HABP2c.1679T>G (p.Phe560Cys)
c.1601T>G (p.Phe534Cys)
10g.113588366C>ACA5694100HABP2c.1680C>A (p.Phe560Leu)
c.1602C>A (p.Phe534Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588366C=CA1937429215HABP2c.1680C= (p.Phe560=)
c.1602C= (p.Phe534=)
10g.113588366C>GCA378422655HABP2c.1680C>G (p.Phe560Leu)
c.1602C>G (p.Phe534Leu)
10g.113588366C>TCA471517191HABP2c.1680C>T (p.Phe560=)
c.1602C>T (p.Phe534=)
 dbSNP
10g.113588367T>ACA378422658HABP2c.1681T>A (p.Ter561Lys)
c.1603T>A (p.Ter535Lys)
10g.113588367T>CCA378422659HABP2c.1681T>C (p.Ter561Gln)
c.1603T>C (p.Ter535Gln)
 dbSNP gnomAD v2 gnomAD v4
10g.113588367T>GCA378422661HABP2c.1681T>G (p.Ter561Glu)
c.1603T>G (p.Ter535Glu)
10g.113588367T=CA1937429216HABP2c.1681T= (p.Ter561=)
c.1603T= (p.Ter535=)
10g.113588368A>CCA378422663HABP2c.1682A>C (p.Ter561Ser)
c.1604A>C (p.Ter535Ser)
10g.113588368A>GCA471517198HABP2c.1682A>G (p.Ter561=)
c.1604A>G (p.Ter535=)
10g.113588368A>TCA378422666HABP2c.1682A>T (p.Ter561Leu)
c.1604A>T (p.Ter535Leu)

Number of alleles fetched