Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.73329624G>ACA491151479HCN4c.1539C>T (p.Ala513=)
c.321C>T (p.Ala107=)
15g.73329624G>CCA491151480HCN4c.1539C>G (p.Ala513=)
c.321C>G (p.Ala107=)
15g.73329624G>TCA491151481HCN4c.1539C>A (p.Ala513=)
c.321C>A (p.Ala107=)
15g.73329625G>ACA393093549HCN4c.1538C>T (p.Ala513Val)
c.320C>T (p.Ala107Val)
15g.73329625G>CCA393093547HCN4c.1538C>G (p.Ala513Gly)
c.320C>G (p.Ala107Gly)
15g.73329625G>TCA393093545HCN4c.1538C>A (p.Ala513Asp)
c.320C>A (p.Ala107Asp)
15g.73329626C>ACA393093552HCN4c.1537G>T (p.Ala513Ser)
c.319G>T (p.Ala107Ser)
15g.73329626C=CA2187167446HCN4c.1537G= (p.Ala513=)
c.319G= (p.Ala107=)
15g.73329626C>GCA393093553HCN4c.1537G>C (p.Ala513Pro)
c.319G>C (p.Ala107Pro)
15g.73329626C>TCA393093555HCN4c.1537G>A (p.Ala513Thr)
c.319G>A (p.Ala107Thr)
dbSNP gnomAD v3 gnomAD v4
15g.73329627G>ACA7649283HCN4c.1536C>T (p.His512=)
c.318C>T (p.His106=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.73329627G>CCA393093558HCN4c.1536C>G (p.His512Gln)
c.318C>G (p.His106Gln)
15g.73329627G=CA2187167452HCN4c.1536C= (p.His512=)
c.318C= (p.His106=)
15g.73329627G>TCA393093560HCN4c.1536C>A (p.His512Gln)
c.318C>A (p.His106Gln)
15g.73329628T>ACA393093562HCN4c.1535A>T (p.His512Leu)
c.317A>T (p.His106Leu)
15g.73329628T>CCA393093564HCN4c.1535A>G (p.His512Arg)
c.317A>G (p.His106Arg)
15g.73329628T>GCA393093566HCN4c.1535A>C (p.His512Pro)
c.317A>C (p.His106Pro)
15g.73329629G>ACA393093568HCN4c.1534C>T (p.His512Tyr)
c.316C>T (p.His106Tyr)
15g.73329629G>CCA393093570HCN4c.1534C>G (p.His512Asp)
c.316C>G (p.His106Asp)
15g.73329629G>TCA393093572HCN4c.1534C>A (p.His512Asn)
c.316C>A (p.His106Asn)
15g.73329630G>ACA491151484HCN4c.1533C>T (p.Gly511=)
c.315C>T (p.Gly105=)
gnomAD v4
15g.73329630G>CCA491151482HCN4c.1533C>G (p.Gly511=)
c.315C>G (p.Gly105=)
15g.73329630G>TCA491151483HCN4c.1533C>A (p.Gly511=)
c.315C>A (p.Gly105=)
ClinVar dbSNP gnomAD v4
15g.73329631C>ACA393093579HCN4c.1532G>T (p.Gly511Val)
c.314G>T (p.Gly105Val)
15g.73329631C>GCA393093576HCN4c.1532G>C (p.Gly511Ala)
c.314G>C (p.Gly105Ala)
gnomAD v4
15g.73329631C>TCA393093574HCN4c.1532G>A (p.Gly511Asp)
c.314G>A (p.Gly105Asp)
15g.73329632C>ACA393093581HCN4c.1531G>T (p.Gly511Cys)
c.313G>T (p.Gly105Cys)
15g.73329632C>GCA393093582HCN4c.1531G>C (p.Gly511Arg)
c.313G>C (p.Gly105Arg)
15g.73329632C>TCA393093584HCN4c.1531G>A (p.Gly511Ser)
c.313G>A (p.Gly105Ser)
15g.73329633A>CCA393093586HCN4c.1530T>G (p.Ile510Met)
c.312T>G (p.Ile104Met)
15g.73329633A>GCA491151485HCN4c.1530T>C (p.Ile510=)
c.312T>C (p.Ile104=)
15g.73329633A>TCA491151486HCN4c.1530T>A (p.Ile510=)
c.312T>A (p.Ile104=)
15g.73329634A>CCA393093589HCN4c.1529T>G (p.Ile510Ser)
c.311T>G (p.Ile104Ser)
15g.73329634A>GCA393093591HCN4c.1529T>C (p.Ile510Thr)
c.311T>C (p.Ile104Thr)
15g.73329634A>TCA393093593HCN4c.1529T>A (p.Ile510Asn)
c.311T>A (p.Ile104Asn)
15g.73329635T>ACA393093596HCN4c.1528A>T (p.Ile510Phe)
c.310A>T (p.Ile104Phe)
15g.73329635T>CCA393093598HCN4c.1528A>G (p.Ile510Val)
c.310A>G (p.Ile104Val)
15g.73329635T>GCA393093600HCN4c.1528A>C (p.Ile510Leu)
c.310A>C (p.Ile104Leu)
15g.73329636G>ACA491151487HCN4c.1527C>T (p.Phe509=)
c.309C>T (p.Phe103=)
15g.73329636G>CCA393093602HCN4c.1527C>G (p.Phe509Leu)
c.309C>G (p.Phe103Leu)
15g.73329636G>TCA393093604HCN4c.1527C>A (p.Phe509Leu)
c.309C>A (p.Phe103Leu)
15g.73329637A>CCA393093606HCN4c.1526T>G (p.Phe509Cys)
c.308T>G (p.Phe103Cys)
15g.73329637A>GCA393093610HCN4c.1526T>C (p.Phe509Ser)
c.308T>C (p.Phe103Ser)
15g.73329637A>TCA393093608HCN4c.1526T>A (p.Phe509Tyr)
c.308T>A (p.Phe103Tyr)
15g.73329638A>CCA393093612HCN4c.1525T>G (p.Phe509Val)
c.307T>G (p.Phe103Val)
15g.73329638A>GCA393093615HCN4c.1525T>C (p.Phe509Leu)
c.307T>C (p.Phe103Leu)
gnomAD v4
15g.73329638A>TCA393093613HCN4c.1525T>A (p.Phe509Ile)
c.307T>A (p.Phe103Ile)
15g.73329639C>ACA393093618HCN4c.1524G>T (p.Met508Ile)
c.306G>T (p.Met102Ile)
15g.73329639C>GCA393093622HCN4c.1524G>C (p.Met508Ile)
c.306G>C (p.Met102Ile)
15g.73329639C>TCA393093619HCN4c.1524G>A (p.Met508Ile)
c.306G>A (p.Met102Ile)
15g.73329640A>CCA393093623HCN4c.1523T>G (p.Met508Arg)
c.305T>G (p.Met102Arg)
15g.73329640A>GCA393093625HCN4c.1523T>C (p.Met508Thr)
c.305T>C (p.Met102Thr)
gnomAD v4
15g.73329640A>TCA393093627HCN4c.1523T>A (p.Met508Lys)
c.305T>A (p.Met102Lys)
15g.73329641T>ACA393093630HCN4c.1522A>T (p.Met508Leu)
c.304A>T (p.Met102Leu)
15g.73329641T>CCA272672022HCN4c.1522A>G (p.Met508Val)
c.304A>G (p.Met102Val)
ClinVar dbSNP
15g.73329641T>GCA393093633HCN4c.1522A>C (p.Met508Leu)
c.304A>C (p.Met102Leu)
15g.73329641T=CA2187167457HCN4c.1522A= (p.Met508=)
c.304A= (p.Met102=)
15g.73329641dupCA2695220988HCN4c.1522dup (p.Met508AsnfsTer?)
c.304dup (p.Met102AsnfsTer?)
15g.73329642G>ACA272672032HCN4c.1521C>T (p.Ala507=)
c.303C>T (p.Ala101=)
ClinVar dbSNP
15g.73329642G>CCA491151488HCN4c.1521C>G (p.Ala507=)
c.303C>G (p.Ala101=)
15g.73329642G=CA2187167461HCN4c.1521C= (p.Ala507=)
c.303C= (p.Ala101=)
15g.73329642G>TCA491151489HCN4c.1521C>A (p.Ala507=)
c.303C>A (p.Ala101=)
15g.73329643G>ACA393093636HCN4c.1520C>T (p.Ala507Val)
c.302C>T (p.Ala101Val)
15g.73329643G>CCA393093638HCN4c.1520C>G (p.Ala507Gly)
c.302C>G (p.Ala101Gly)
15g.73329643G>TCA393093639HCN4c.1520C>A (p.Ala507Asp)
c.302C>A (p.Ala101Asp)
15g.73329644C>ACA393093642HCN4c.1519G>T (p.Ala507Ser)
c.301G>T (p.Ala101Ser)
COSMIC
15g.73329644C=CA2187167464HCN4c.1519G= (p.Ala507=)
c.301G= (p.Ala101=)
15g.73329644C>GCA393093644HCN4c.1519G>C (p.Ala507Pro)
c.301G>C (p.Ala101Pro)
15g.73329644C>TCA393093645HCN4c.1519G>A (p.Ala507Thr)
c.301G>A (p.Ala101Thr)
dbSNP gnomAD v4
15g.73329645G>ACA202780HCN4c.1518C>T (p.Tyr506=)
c.300C>T (p.Tyr100=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329645G>CCA393093651HCN4c.1518C>G (p.Tyr506Ter)
c.300C>G (p.Tyr100Ter)
15g.73329645G=CA2187167471HCN4c.1518C= (p.Tyr506=)
c.300C= (p.Tyr100=)
15g.73329645G>TCA393093650HCN4c.1518C>A (p.Tyr506Ter)
c.300C>A (p.Tyr100Ter)
15g.73329646T>ACA393093653HCN4c.1517A>T (p.Tyr506Phe)
c.299A>T (p.Tyr100Phe)
15g.73329646T>CCA393093655HCN4c.1517A>G (p.Tyr506Cys)
c.299A>G (p.Tyr100Cys)
15g.73329646T>GCA393093657HCN4c.1517A>C (p.Tyr506Ser)
c.299A>C (p.Tyr100Ser)
15g.73329647A>CCA393093659HCN4c.1516T>G (p.Tyr506Asp)
c.298T>G (p.Tyr100Asp)
15g.73329647A>GCA393093661HCN4c.1516T>C (p.Tyr506His)
c.298T>C (p.Tyr100His)
15g.73329647A>TCA393093663HCN4c.1516T>A (p.Tyr506Asn)
c.298T>A (p.Tyr100Asn)
15g.73329648G>ACA491151490HCN4c.1515C>T (p.Cys505=)
c.297C>T (p.Cys99=)
15g.73329648G>CCA393093665HCN4c.1515C>G (p.Cys505Trp)
c.297C>G (p.Cys99Trp)
15g.73329648G>TCA393093667HCN4c.1515C>A (p.Cys505Ter)
c.297C>A (p.Cys99Ter)
15g.73329649C>ACA393093670HCN4c.1514G>T (p.Cys505Phe)
c.296G>T (p.Cys99Phe)
gnomAD v4
15g.73329649C>GCA393093672HCN4c.1514G>C (p.Cys505Ser)
c.296G>C (p.Cys99Ser)
15g.73329649C>TCA393093674HCN4c.1514G>A (p.Cys505Tyr)
c.296G>A (p.Cys99Tyr)
ClinVar
15g.73329650A>CCA393093680HCN4c.1513T>G (p.Cys505Gly)
c.295T>G (p.Cys99Gly)
15g.73329650A>GCA393093678HCN4c.1513T>C (p.Cys505Arg)
c.295T>C (p.Cys99Arg)
15g.73329650A>TCA393093675HCN4c.1513T>A (p.Cys505Ser)
c.295T>A (p.Cys99Ser)
15g.73329651G>ACA7649284HCN4c.1512C>T (p.Thr504=)
c.294C>T (p.Thr98=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329651G>CCA491151494HCN4c.1512C>G (p.Thr504=)
c.294C>G (p.Thr98=)
15g.73329651G=CA2187167473HCN4c.1512C= (p.Thr504=)
c.294C= (p.Thr98=)
15g.73329651G>TCA491151496HCN4c.1512C>A (p.Thr504=)
c.294C>A (p.Thr98=)
15g.73329652G>ACA393093682HCN4c.1511C>T (p.Thr504Ile)
c.293C>T (p.Thr98Ile)
15g.73329652G>CCA393093684HCN4c.1511C>G (p.Thr504Ser)
c.293C>G (p.Thr98Ser)
15g.73329652G=CA2187167477HCN4c.1511C= (p.Thr504=)
c.293C= (p.Thr98=)
15g.73329652G>TCA393093686HCN4c.1511C>A (p.Thr504Asn)
c.293C>A (p.Thr98Asn)
ClinVar dbSNP
15g.73329653T>ACA393093689HCN4c.1510A>T (p.Thr504Ser)
c.292A>T (p.Thr98Ser)
15g.73329653T>CCA393093690HCN4c.1510A>G (p.Thr504Ala)
c.292A>G (p.Thr98Ala)
15g.73329653T>GCA393093692HCN4c.1510A>C (p.Thr504Pro)
c.292A>C (p.Thr98Pro)
dbSNP
15g.73329653T=CA2187167481HCN4c.1510A= (p.Thr504=)
c.292A= (p.Thr98=)
15g.73329654G>ACA16614505HCN4c.1509C>T (p.Ala503=)
c.291C>T (p.Ala97=)
ClinVar dbSNP gnomAD v4
15g.73329654G>CCA491151506HCN4c.1509C>G (p.Ala503=)
c.291C>G (p.Ala97=)
15g.73329654G=CA2187167486HCN4c.1509C= (p.Ala503=)
c.291C= (p.Ala97=)
15g.73329654G>TCA491151508HCN4c.1509C>A (p.Ala503=)
c.291C>A (p.Ala97=)
15g.73329655G>ACA393093695HCN4c.1508C>T (p.Ala503Val)
c.290C>T (p.Ala97Val)
gnomAD v4
15g.73329655G>CCA393093698HCN4c.1508C>G (p.Ala503Gly)
c.290C>G (p.Ala97Gly)
15g.73329655G>TCA393093699HCN4c.1508C>A (p.Ala503Asp)
c.290C>A (p.Ala97Asp)
15g.73329656C>ACA393093700HCN4c.1507G>T (p.Ala503Ser)
c.289G>T (p.Ala97Ser)
15g.73329656C>GCA393093702HCN4c.1507G>C (p.Ala503Pro)
c.289G>C (p.Ala97Pro)
15g.73329656C>TCA393093704HCN4c.1507G>A (p.Ala503Thr)
c.289G>A (p.Ala97Thr)
15g.73329657A>CCA491151517HCN4c.1506T>G (p.Gly502=)
c.288T>G (p.Gly96=)
15g.73329657A>GCA491151516HCN4c.1506T>C (p.Gly502=)
c.288T>C (p.Gly96=)
15g.73329657A>TCA491151519HCN4c.1506T>A (p.Gly502=)
c.288T>A (p.Gly96=)
15g.73329658C>ACA393093709HCN4c.1505G>T (p.Gly502Val)
c.287G>T (p.Gly96Val)
15g.73329658C>GCA393093710HCN4c.1505G>C (p.Gly502Ala)
c.287G>C (p.Gly96Ala)
15g.73329658C>TCA393093707HCN4c.1505G>A (p.Gly502Asp)
c.287G>A (p.Gly96Asp)
15g.73329659C>ACA393093713HCN4c.1504G>T (p.Gly502Cys)
c.286G>T (p.Gly96Cys)
15g.73329659C>GCA393093714HCN4c.1504G>C (p.Gly502Arg)
c.286G>C (p.Gly96Arg)
15g.73329659C>TCA393093716HCN4c.1504G>A (p.Gly502Ser)
c.286G>A (p.Gly96Ser)
15g.73329660C>ACA491151527HCN4c.1503G>T (p.Val501=)
c.285G>T (p.Val95=)
dbSNP gnomAD v2 gnomAD v4
15g.73329660C=CA2187167492HCN4c.1503G= (p.Val501=)
c.285G= (p.Val95=)
15g.73329660C>GCA491151529HCN4c.1503G>C (p.Val501=)
c.285G>C (p.Val95=)
15g.73329660C>TCA491151531HCN4c.1503G>A (p.Val501=)
c.285G>A (p.Val95=)
dbSNP gnomAD v2 gnomAD v4
15g.73329661A>CCA393093718HCN4c.1502T>G (p.Val501Gly)
c.284T>G (p.Val95Gly)
15g.73329661A>GCA393093719HCN4c.1502T>C (p.Val501Ala)
c.284T>C (p.Val95Ala)
15g.73329661A>TCA393093721HCN4c.1502T>A (p.Val501Glu)
c.284T>A (p.Val95Glu)
15g.73329662C>ACA393093723HCN4c.1501G>T (p.Val501Leu)
c.283G>T (p.Val95Leu)
15g.73329662C>GCA393093726HCN4c.1501G>C (p.Val501Leu)
c.283G>C (p.Val95Leu)
15g.73329662C>TCA393093725HCN4c.1501G>A (p.Val501Met)
c.283G>A (p.Val95Met)
COSMIC
15g.73329663G>ACA7649285HCN4c.1500C>T (p.Ile500=)
c.282C>T (p.Ile94=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.73329663G>CCA393093729HCN4c.1500C>G (p.Ile500Met)
c.282C>G (p.Ile94Met)
15g.73329663G=CA2187167495HCN4c.1500C= (p.Ile500=)
c.282C= (p.Ile94=)
15g.73329663G>TCA491151543HCN4c.1500C>A (p.Ile500=)
c.282C>A (p.Ile94=)
15g.73329664A>CCA393093731HCN4c.1499T>G (p.Ile500Ser)
c.281T>G (p.Ile94Ser)
15g.73329664A>GCA393093732HCN4c.1499T>C (p.Ile500Thr)
c.281T>C (p.Ile94Thr)
15g.73329664A>TCA393093735HCN4c.1499T>A (p.Ile500Asn)
c.281T>A (p.Ile94Asn)
15g.73329665T>ACA393093738HCN4c.1498A>T (p.Ile500Phe)
c.280A>T (p.Ile94Phe)
15g.73329665T>CCA393093739HCN4c.1498A>G (p.Ile500Val)
c.280A>G (p.Ile94Val)
15g.73329665T>GCA393093737HCN4c.1498A>C (p.Ile500Leu)
c.280A>C (p.Ile94Leu)
15g.73329666C>ACA393093740HCN4c.1497G>T (p.Met499Ile)
c.279G>T (p.Met93Ile)
15g.73329666C>GCA393093742HCN4c.1497G>C (p.Met499Ile)
c.279G>C (p.Met93Ile)
15g.73329666C>TCA393093741HCN4c.1497G>A (p.Met499Ile)
c.279G>A (p.Met93Ile)
15g.73329667A>CCA393093743HCN4c.1496T>G (p.Met499Arg)
c.278T>G (p.Met93Arg)
15g.73329667A>GCA393093744HCN4c.1496T>C (p.Met499Thr)
c.278T>C (p.Met93Thr)
15g.73329667A>TCA393093745HCN4c.1496T>A (p.Met499Lys)
c.278T>A (p.Met93Lys)
15g.73329668T>ACA393093746HCN4c.1495A>T (p.Met499Leu)
c.277A>T (p.Met93Leu)
15g.73329668T>CCA393093747HCN4c.1495A>G (p.Met499Val)
c.277A>G (p.Met93Val)
15g.73329668T>GCA393093748HCN4c.1495A>C (p.Met499Leu)
c.277A>C (p.Met93Leu)
15g.73329669G>ACA491151559HCN4c.1494C>T (p.Ser498=)
c.276C>T (p.Ser92=)
15g.73329669G>CCA393093749HCN4c.1494C>G (p.Ser498Arg)
c.276C>G (p.Ser92Arg)
ClinVar dbSNP
15g.73329669G=CA2187167500HCN4c.1494C= (p.Ser498=)
c.276C= (p.Ser92=)
15g.73329669G>TCA393093750HCN4c.1494C>A (p.Ser498Arg)
c.276C>A (p.Ser92Arg)
ClinVar dbSNP
15g.73329670C>ACA393093751HCN4c.1493G>T (p.Ser498Ile)
c.275G>T (p.Ser92Ile)
15g.73329670C>GCA393093752HCN4c.1493G>C (p.Ser498Thr)
c.275G>C (p.Ser92Thr)
15g.73329670C>TCA393093753HCN4c.1493G>A (p.Ser498Asn)
c.275G>A (p.Ser92Asn)
15g.73329671T>ACA393093756HCN4c.1492A>T (p.Ser498Cys)
c.274A>T (p.Ser92Cys)
15g.73329671T>CCA393093755HCN4c.1492A>G (p.Ser498Gly)
c.274A>G (p.Ser92Gly)
15g.73329671T>GCA393093754HCN4c.1492A>C (p.Ser498Arg)
c.274A>C (p.Ser92Arg)
dbSNP gnomAD v3 gnomAD v4
15g.73329671T=CA2187167502HCN4c.1492A= (p.Ser498=)
c.274A= (p.Ser92=)
15g.73329672G>ACA491151571HCN4c.1491C>T (p.Leu497=)
c.273C>T (p.Leu91=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.73329672G>CCA491151572HCN4c.1491C>G (p.Leu497=)
c.273C>G (p.Leu91=)
15g.73329672G=CA2187167506HCN4c.1491C= (p.Leu497=)
c.273C= (p.Leu91=)
15g.73329672G>TCA491151574HCN4c.1491C>A (p.Leu497=)
c.273C>A (p.Leu91=)
15g.73329673A>CCA393093757HCN4c.1490T>G (p.Leu497Arg)
c.272T>G (p.Leu91Arg)
15g.73329673A>GCA393093758HCN4c.1490T>C (p.Leu497Pro)
c.272T>C (p.Leu91Pro)
15g.73329673A>TCA393093759HCN4c.1490T>A (p.Leu497His)
c.272T>A (p.Leu91His)
15g.73329674G>ACA393093760HCN4c.1489C>T (p.Leu497Phe)
c.271C>T (p.Leu91Phe)
15g.73329674G>CCA393093761HCN4c.1489C>G (p.Leu497Val)
c.271C>G (p.Leu91Val)
15g.73329674G>TCA393093762HCN4c.1489C>A (p.Leu497Ile)
c.271C>A (p.Leu91Ile)
15g.73329675C>ACA393093763HCN4c.1488G>T (p.Met496Ile)
c.270G>T (p.Met90Ile)
15g.73329675C>GCA393093764HCN4c.1488G>C (p.Met496Ile)
c.270G>C (p.Met90Ile)
15g.73329675C>TCA393093765HCN4c.1488G>A (p.Met496Ile)
c.270G>A (p.Met90Ile)
15g.73329676A=CA2187167511HCN4c.1487T= (p.Met496=)
c.269T= (p.Met90=)
15g.73329676A>CCA393093766HCN4c.1487T>G (p.Met496Arg)
c.269T>G (p.Met90Arg)
15g.73329676A>GCA393093767HCN4c.1487T>C (p.Met496Thr)
c.269T>C (p.Met90Thr)
dbSNP gnomAD v4
15g.73329676A>TCA393093768HCN4c.1487T>A (p.Met496Lys)
c.269T>A (p.Met90Lys)
15g.73329677T>ACA393093770HCN4c.1486A>T (p.Met496Leu)
c.268A>T (p.Met90Leu)
15g.73329677T>CCA7649286HCN4c.1486A>G (p.Met496Val)
c.268A>G (p.Met90Val)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.73329677T>GCA393093769HCN4c.1486A>C (p.Met496Leu)
c.268A>C (p.Met90Leu)
15g.73329677T=CA2187167513HCN4c.1486A= (p.Met496=)
c.268A= (p.Met90=)
15g.73329678G>ACA491151594HCN4c.1485C>T (p.Thr495=)
c.267C>T (p.Thr89=)
15g.73329678G>CCA491151596HCN4c.1485C>G (p.Thr495=)
c.267C>G (p.Thr89=)
15g.73329678G>TCA491151592HCN4c.1485C>A (p.Thr495=)
c.267C>A (p.Thr89=)
ClinVar dbSNP gnomAD v4
15g.73329679G>ACA393093771HCN4c.1484C>T (p.Thr495Ile)
c.266C>T (p.Thr89Ile)
15g.73329679G>CCA393093772HCN4c.1484C>G (p.Thr495Ser)
c.266C>G (p.Thr89Ser)
15g.73329679G>TCA393093773HCN4c.1484C>A (p.Thr495Asn)
c.266C>A (p.Thr89Asn)
15g.73329680T>ACA393093774HCN4c.1483A>T (p.Thr495Ser)
c.265A>T (p.Thr89Ser)
15g.73329680T>CCA393093775HCN4c.1483A>G (p.Thr495Ala)
c.265A>G (p.Thr89Ala)
gnomAD v4
15g.73329680T>GCA393093776HCN4c.1483A>C (p.Thr495Pro)
c.265A>C (p.Thr89Pro)
15g.73329681G>ACA272672050HCN4c.1482C>T (p.Leu494=)
c.264C>T (p.Leu88=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.73329681G>CCA491151603HCN4c.1482C>G (p.Leu494=)
c.264C>G (p.Leu88=)
15g.73329681G=CA2187167516HCN4c.1482C= (p.Leu494=)
c.264C= (p.Leu88=)
15g.73329681G>TCA491151605HCN4c.1482C>A (p.Leu494=)
c.264C>A (p.Leu88=)
15g.73329682A>CCA393093777HCN4c.1481T>G (p.Leu494Arg)
c.263T>G (p.Leu88Arg)
15g.73329682A>GCA393093778HCN4c.1481T>C (p.Leu494Pro)
c.263T>C (p.Leu88Pro)
15g.73329682A>TCA393093779HCN4c.1481T>A (p.Leu494His)
c.263T>A (p.Leu88His)
15g.73329683G>ACA393093780HCN4c.1480C>T (p.Leu494Phe)
c.262C>T (p.Leu88Phe)
ClinVar dbSNP gnomAD v4
15g.73329683G>CCA393093781HCN4c.1480C>G (p.Leu494Val)
c.262C>G (p.Leu88Val)
15g.73329683G>TCA393093782HCN4c.1480C>A (p.Leu494Ile)
c.262C>A (p.Leu88Ile)
15g.73329684C>ACA393093785HCN4c.1479G>T (p.Trp493Cys)
c.261G>T (p.Trp87Cys)
gnomAD v4
15g.73329684C>GCA393093784HCN4c.1479G>C (p.Trp493Cys)
c.261G>C (p.Trp87Cys)
15g.73329684C>TCA393093783HCN4c.1479G>A (p.Trp493Ter)
c.261G>A (p.Trp87Ter)
gnomAD v4
15g.73329685C>ACA393093786HCN4c.1478G>T (p.Trp493Leu)
c.260G>T (p.Trp87Leu)
15g.73329685C>GCA393093787HCN4c.1478G>C (p.Trp493Ser)
c.260G>C (p.Trp87Ser)
15g.73329685C>TCA393093788HCN4c.1478G>A (p.Trp493Ter)
c.260G>A (p.Trp87Ter)
gnomAD v4
15g.73329686A>CCA393093789HCN4c.1477T>G (p.Trp493Gly)
c.259T>G (p.Trp87Gly)
15g.73329686A>GCA393093790HCN4c.1477T>C (p.Trp493Arg)
c.259T>C (p.Trp87Arg)
15g.73329686A>TCA393093791HCN4c.1477T>A (p.Trp493Arg)
c.259T>A (p.Trp87Arg)
15g.73329687G>ACA491151625HCN4c.1476C>T (p.Val492=)
c.258C>T (p.Val86=)
dbSNP
15g.73329687G>CCA491151627HCN4c.1476C>G (p.Val492=)
c.258C>G (p.Val86=)
15g.73329687G=CA2187167519HCN4c.1476C= (p.Val492=)
c.258C= (p.Val86=)
15g.73329687G>TCA491151629HCN4c.1476C>A (p.Val492=)
c.258C>A (p.Val86=)
15g.73329688A>CCA393093792HCN4c.1475T>G (p.Val492Gly)
c.257T>G (p.Val86Gly)
15g.73329688A>GCA393093793HCN4c.1475T>C (p.Val492Ala)
c.257T>C (p.Val86Ala)
15g.73329688A>TCA393093794HCN4c.1475T>A (p.Val492Asp)
c.257T>A (p.Val86Asp)
15g.73329689C>ACA393093795HCN4c.1474G>T (p.Val492Phe)
c.256G>T (p.Val86Phe)
15g.73329689C=CA2187167522HCN4c.1474G= (p.Val492=)
c.256G= (p.Val86=)
15g.73329689C>GCA393093796HCN4c.1474G>C (p.Val492Leu)
c.256G>C (p.Val86Leu)
15g.73329689C>TCA7649287HCN4c.1474G>A (p.Val492Ile)
c.256G>A (p.Val86Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.73329690G>ACA7649288HCN4c.1473C>T (p.Asp491=)
c.255C>T (p.Asp85=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329690G>CCA393093798HCN4c.1473C>G (p.Asp491Glu)
c.255C>G (p.Asp85Glu)
15g.73329690G=CA2187167528HCN4c.1473C= (p.Asp491=)
c.255C= (p.Asp85=)
15g.73329690G>TCA393093797HCN4c.1473C>A (p.Asp491Glu)
c.255C>A (p.Asp85Glu)
15g.73329691T>ACA393093799HCN4c.1472A>T (p.Asp491Val)
c.254A>T (p.Asp85Val)
15g.73329691T>CCA393093800HCN4c.1472A>G (p.Asp491Gly)
c.254A>G (p.Asp85Gly)
15g.73329691T>GCA393093801HCN4c.1472A>C (p.Asp491Ala)
c.254A>C (p.Asp85Ala)
15g.73329692C>ACA393093802HCN4c.1471G>T (p.Asp491Tyr)
c.253G>T (p.Asp85Tyr)
15g.73329692C=CA2187167535HCN4c.1471G= (p.Asp491=)
c.253G= (p.Asp85=)
15g.73329692C>GCA393093803HCN4c.1471G>C (p.Asp491His)
c.253G>C (p.Asp85His)
ClinVar dbSNP
15g.73329692C>TCA16614921HCN4c.1471G>A (p.Asp491Asn)
c.253G>A (p.Asp85Asn)
ClinVar dbSNP gnomAD v4 COSMIC
15g.73329693G>ACA7649289HCN4c.1470C>T (p.Ser490=)
c.252C>T (p.Ser84=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329693G>CCA491151649HCN4c.1470C>G (p.Ser490=)
c.252C>G (p.Ser84=)
15g.73329693G=CA2187167541HCN4c.1470C= (p.Ser490=)
c.252C= (p.Ser84=)
15g.73329693G>TCA491151651HCN4c.1470C>A (p.Ser490=)
c.252C>A (p.Ser84=)
15g.73329694G>ACA393093806HCN4c.1469C>T (p.Ser490Phe)
c.251C>T (p.Ser84Phe)
15g.73329694G>CCA393093804HCN4c.1469C>G (p.Ser490Cys)
c.251C>G (p.Ser84Cys)
15g.73329694G>TCA393093805HCN4c.1469C>A (p.Ser490Tyr)
c.251C>A (p.Ser84Tyr)
15g.73329695A>CCA393093807HCN4c.1468T>G (p.Ser490Ala)
c.250T>G (p.Ser84Ala)
15g.73329695A>GCA393093808HCN4c.1468T>C (p.Ser490Pro)
c.250T>C (p.Ser84Pro)
15g.73329695A>TCA393093810HCN4c.1468T>A (p.Ser490Thr)
c.250T>A (p.Ser84Thr)
15g.73329696C>ACA393093812HCN4c.1467G>T (p.Met489Ile)
c.249G>T (p.Met83Ile)
15g.73329696C=CA2187167544HCN4c.1467G= (p.Met489=)
c.249G= (p.Met83=)
15g.73329696C>GCA393093814HCN4c.1467G>C (p.Met489Ile)
c.249G>C (p.Met83Ile)
15g.73329696C>TCA7649290HCN4c.1467G>A (p.Met489Ile)
c.249G>A (p.Met83Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329697A>CCA393093817HCN4c.1466T>G (p.Met489Arg)
c.248T>G (p.Met83Arg)
15g.73329697A>GCA393093821HCN4c.1466T>C (p.Met489Thr)
c.248T>C (p.Met83Thr)
gnomAD v4
15g.73329697A>TCA393093819HCN4c.1466T>A (p.Met489Lys)
c.248T>A (p.Met83Lys)
15g.73329698T>ACA393093823HCN4c.1465A>T (p.Met489Leu)
c.247A>T (p.Met83Leu)
15g.73329698T>CCA393093825HCN4c.1465A>G (p.Met489Val)
c.247A>G (p.Met83Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.73329698T>GCA393093827HCN4c.1465A>C (p.Met489Leu)
c.247A>C (p.Met83Leu)
15g.73329698T=CA2187167548HCN4c.1465A= (p.Met489=)
c.247A= (p.Met83=)
15g.73329699G>ACA491151671HCN4c.1464C>T (p.Gly488=)
c.246C>T (p.Gly82=)
15g.73329699G>CCA491151669HCN4c.1464C>G (p.Gly488=)
c.246C>G (p.Gly82=)
15g.73329699G>TCA491151668HCN4c.1464C>A (p.Gly488=)
c.246C>A (p.Gly82=)
15g.73329700C>ACA393093829HCN4c.1463G>T (p.Gly488Val)
c.245G>T (p.Gly82Val)
15g.73329700C>GCA393093831HCN4c.1463G>C (p.Gly488Ala)
c.245G>C (p.Gly82Ala)
15g.73329700C>TCA393093833HCN4c.1463G>A (p.Gly488Asp)
c.245G>A (p.Gly82Asp)
gnomAD v4
15g.73329701C>ACA393093835HCN4c.1462G>T (p.Gly488Cys)
c.244G>T (p.Gly82Cys)
15g.73329701C=CA2187167554HCN4c.1462G= (p.Gly488=)
c.244G= (p.Gly82=)
15g.73329701C>GCA393093836HCN4c.1462G>C (p.Gly488Arg)
c.244G>C (p.Gly82Arg)
15g.73329701C>TCA10604722HCN4c.1462G>A (p.Gly488Ser)
c.244G>A (p.Gly82Ser)
ClinVar dbSNP
15g.73329702C>ACA491151679HCN4c.1461G>T (p.Val487=)
c.243G>T (p.Val81=)
15g.73329702C>GCA491151681HCN4c.1461G>C (p.Val487=)
c.243G>C (p.Val81=)
15g.73329702C>TCA491151683HCN4c.1461G>A (p.Val487=)
c.243G>A (p.Val81=)
gnomAD v4
15g.73329703A>CCA393093840HCN4c.1460T>G (p.Val487Gly)
c.242T>G (p.Val81Gly)
15g.73329703A>GCA393093842HCN4c.1460T>C (p.Val487Ala)
c.242T>C (p.Val81Ala)
15g.73329703A>TCA393093843HCN4c.1460T>A (p.Val487Glu)
c.242T>A (p.Val81Glu)
15g.73329704C>ACA393093845HCN4c.1459G>T (p.Val487Leu)
c.241G>T (p.Val81Leu)
15g.73329704C=CA2187167560HCN4c.1459G= (p.Val487=)
c.241G= (p.Val81=)
15g.73329704C>GCA393093848HCN4c.1459G>C (p.Val487Leu)
c.241G>C (p.Val81Leu)
15g.73329704C>TCA234114HCN4c.1459G>A (p.Val487Met)
c.241G>A (p.Val81Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329705G>ACA7649291HCN4c.1458C>T (p.Pro486=)
c.240C>T (p.Pro80=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329705G>CCA491151694HCN4c.1458C>G (p.Pro486=)
c.240C>G (p.Pro80=)
gnomAD v4
15g.73329705G=CA2187167569HCN4c.1458C= (p.Pro486=)
c.240C= (p.Pro80=)
15g.73329705G>TCA491151695HCN4c.1458C>A (p.Pro486=)
c.240C>A (p.Pro80=)
dbSNP gnomAD v2 gnomAD v4
15g.73329706G>ACA393093852HCN4c.1457C>T (p.Pro486Leu)
c.239C>T (p.Pro80Leu)
gnomAD v4
15g.73329706G>CCA393093853HCN4c.1457C>G (p.Pro486Arg)
c.239C>G (p.Pro80Arg)
15g.73329706G>TCA393093855HCN4c.1457C>A (p.Pro486His)
c.239C>A (p.Pro80His)
15g.73329707G>ACA393093858HCN4c.1456C>T (p.Pro486Ser)
c.238C>T (p.Pro80Ser)
ClinVar dbSNP
15g.73329707G>CCA393093860HCN4c.1456C>G (p.Pro486Ala)
c.238C>G (p.Pro80Ala)
15g.73329707G>TCA393093862HCN4c.1456C>A (p.Pro486Thr)
c.238C>A (p.Pro80Thr)
15g.73329708C>ACA491151703HCN4c.1455G>T (p.Ala485=)
c.237G>T (p.Ala79=)
ClinVar dbSNP
15g.73329708C=CA2187167577HCN4c.1455G= (p.Ala485=)
c.237G= (p.Ala79=)
15g.73329708C>GCA491151704HCN4c.1455G>C (p.Ala485=)
c.237G>C (p.Ala79=)
COSMIC
15g.73329708C>TCA7649292HCN4c.1455G>A (p.Ala485=)
c.237G>A (p.Ala79=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.73329709G>ACA393093865HCN4c.1454C>T (p.Ala485Val)
c.236C>T (p.Ala79Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.73329709G>CCA393093867HCN4c.1454C>G (p.Ala485Gly)
c.236C>G (p.Ala79Gly)
gnomAD v4
15g.73329709G=CA2187167582HCN4c.1454C= (p.Ala485=)
c.236C= (p.Ala79=)
15g.73329709G>TCA393093869HCN4c.1454C>A (p.Ala485Glu)
c.236C>A (p.Ala79Glu)
15g.73329710C>ACA393093870HCN4c.1453G>T (p.Ala485Ser)
c.235G>T (p.Ala79Ser)
15g.73329710C>GCA393093872HCN4c.1453G>C (p.Ala485Pro)
c.235G>C (p.Ala79Pro)
COSMIC
15g.73329710C>TCA393093873HCN4c.1453G>A (p.Ala485Thr)
c.235G>A (p.Ala79Thr)
15g.73329711C>ACA393093876HCN4c.1452G>T (p.Gln484His)
c.234G>T (p.Gln78His)
15g.73329711C>GCA393093878HCN4c.1452G>C (p.Gln484His)
c.234G>C (p.Gln78His)
15g.73329711C>TCA491151717HCN4c.1452G>A (p.Gln484=)
c.234G>A (p.Gln78=)
15g.73329711_73329727delinsCTGCCGCCCGTAGCCGACA2187167585HCN4c.1436_1452delinsTCGGCTACGGGCGGCAG (p.Ile479=)
c.218_234delinsTCGGCTACGGGCGGCAG (p.Ile73=)
15g.73329712T>ACA393093880HCN4c.1451A>T (p.Gln484Leu)
c.233A>T (p.Gln78Leu)
15g.73329712T>CCA393093882HCN4c.1451A>G (p.Gln484Arg)
c.233A>G (p.Gln78Arg)
15g.73329712T>GCA393093884HCN4c.1451A>C (p.Gln484Pro)
c.233A>C (p.Gln78Pro)
15g.73329715_73329730delCA619410697HCN4c.1436_1451del (p.Ile479ArgfsTer16)
c.218_233del (p.Ile73ArgfsTer16)
dbSNP gnomAD v2 gnomAD v4
15g.73329713G>ACA393093886HCN4c.1450C>T (p.Gln484Ter)
c.232C>T (p.Gln78Ter)
15g.73329713G>CCA393093888HCN4c.1450C>G (p.Gln484Glu)
c.232C>G (p.Gln78Glu)
dbSNP
15g.73329713G=CA2187167590HCN4c.1450C= (p.Gln484=)
c.232C= (p.Gln78=)
15g.73329713G>TCA393093890HCN4c.1450C>A (p.Gln484Lys)
c.232C>A (p.Gln78Lys)
15g.73329714C>ACA491151725HCN4c.1449G>T (p.Arg483=)
c.231G>T (p.Arg77=)
gnomAD v4
15g.73329714C=CA2187167592HCN4c.1449G= (p.Arg483=)
c.231G= (p.Arg77=)
15g.73329714C>GCA491151727HCN4c.1449G>C (p.Arg483=)
c.231G>C (p.Arg77=)
15g.73329714C>TCA491151729HCN4c.1449G>A (p.Arg483=)
c.231G>A (p.Arg77=)
dbSNP gnomAD v2 gnomAD v4
15g.73329715C>ACA393093892HCN4c.1448G>T (p.Arg483Leu)
c.230G>T (p.Arg77Leu)
15g.73329715C=CA2187167596HCN4c.1448G= (p.Arg483=)
c.230G= (p.Arg77=)
15g.73329715C>GCA393093894HCN4c.1448G>C (p.Arg483Pro)
c.230G>C (p.Arg77Pro)
15g.73329715C>TCA272672089HCN4c.1448G>A (p.Arg483Gln)
c.230G>A (p.Arg77Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.73329716G>ACA393093899HCN4c.1447C>T (p.Arg483Trp)
c.229C>T (p.Arg77Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.73329716G>CCA393093900HCN4c.1447C>G (p.Arg483Gly)
c.229C>G (p.Arg77Gly)
15g.73329716G=CA2187167600HCN4c.1447C= (p.Arg483=)
c.229C= (p.Arg77=)
15g.73329716G>TCA491151736HCN4c.1447C>A (p.Arg483=)
c.229C>A (p.Arg77=)
15g.73329717C>ACA491151738HCN4c.1446G>T (p.Gly482=)
c.228G>T (p.Gly76=)
15g.73329717C>GCA491151740HCN4c.1446G>C (p.Gly482=)
c.228G>C (p.Gly76=)
15g.73329717C>TCA491151742HCN4c.1446G>A (p.Gly482=)
c.228G>A (p.Gly76=)
15g.73329718C>ACA393093903HCN4c.1445G>T (p.Gly482Val)
c.227G>T (p.Gly76Val)
15g.73329718C>GCA393093906HCN4c.1445G>C (p.Gly482Ala)
c.227G>C (p.Gly76Ala)
15g.73329718C>TCA393093905HCN4c.1445G>A (p.Gly482Glu)
c.227G>A (p.Gly76Glu)
ClinVar dbSNP
15g.73329719C>ACA393093909HCN4c.1444G>T (p.Gly482Trp)
c.226G>T (p.Gly76Trp)
15g.73329719C=CA2187167606HCN4c.1444G= (p.Gly482=)
c.226G= (p.Gly76=)
15g.73329719C>GCA16043942HCN4c.1444G>C (p.Gly482Arg)
c.226G>C (p.Gly76Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.73329719C>TCA202778HCN4c.1444G>A (p.Gly482Arg)
c.226G>A (p.Gly76Arg)
ClinVar dbSNP
15g.73329720G>ACA7649293HCN4c.1443C>T (p.Tyr481=)
c.225C>T (p.Tyr75=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329720G>CCA393093913HCN4c.1443C>G (p.Tyr481Ter)
c.225C>G (p.Tyr75Ter)
15g.73329720G=CA2187167618HCN4c.1443C= (p.Tyr481=)
c.225C= (p.Tyr75=)
15g.73329720G>TCA393093915HCN4c.1443C>A (p.Tyr481Ter)
c.225C>A (p.Tyr75Ter)
dbSNP gnomAD v2 gnomAD v4
15g.73329720_73329721delinsCACA2580089965HCN4c.1442_1443delinsTG (p.Tyr481Leu)
c.224_225delinsTG (p.Tyr75Leu)
ClinVar
15g.73329721T>ACA393093917HCN4c.1442A>T (p.Tyr481Phe)
c.224A>T (p.Tyr75Phe)
15g.73329721T>CCA393093919HCN4c.1442A>G (p.Tyr481Cys)
c.224A>G (p.Tyr75Cys)
ClinVar dbSNP gnomAD v4
15g.73329721T>GCA393093921HCN4c.1442A>C (p.Tyr481Ser)
c.224A>C (p.Tyr75Ser)
15g.73329722A=CA2187167624HCN4c.1441T= (p.Tyr481=)
c.223T= (p.Tyr75=)
15g.73329722A>CCA393093923HCN4c.1441T>G (p.Tyr481Asp)
c.223T>G (p.Tyr75Asp)
15g.73329722A>GCA16043943HCN4c.1441T>C (p.Tyr481His)
c.223T>C (p.Tyr75His)
ClinVar dbSNP
15g.73329722A>TCA393093925HCN4c.1441T>A (p.Tyr481Asn)
c.223T>A (p.Tyr75Asn)
15g.73329723G>ACA491151767HCN4c.1440C>T (p.Gly480=)
c.222C>T (p.Gly74=)
15g.73329723G>CCA491151763HCN4c.1440C>G (p.Gly480=)
c.222C>G (p.Gly74=)
15g.73329723G>TCA491151765HCN4c.1440C>A (p.Gly480=)
c.222C>A (p.Gly74=)
gnomAD v4
15g.73329724C>ACA16614737HCN4c.1439G>T (p.Gly480Val)
c.221G>T (p.Gly74Val)
ClinVar dbSNP gnomAD v4
15g.73329724C=CA2187167629HCN4c.1439G= (p.Gly480=)
c.221G= (p.Gly74=)
15g.73329724C>GCA393093928HCN4c.1439G>C (p.Gly480Ala)
c.221G>C (p.Gly74Ala)
dbSNP gnomAD v3 gnomAD v4
15g.73329724C>TCA393093930HCN4c.1439G>A (p.Gly480Asp)
c.221G>A (p.Gly74Asp)

Number of alleles fetched