Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.73442256T>ACA1468178450AFPc.483-40T>A (n.483-40T>A)
c.480-40T>A (n.480-40T>A)
c.9-40T>A (n.9-40T>A)
 dbSNP
4g.73442256T>CCA2670968480AFPc.483-40T>C (n.483-40T>C)
c.480-40T>C (n.480-40T>C)
c.9-40T>C (n.9-40T>C)
 gnomAD v4
4g.73442256T=CA1468178449AFPc.483-40T= (n.483-40T=)
c.480-40T= (n.480-40T=)
c.9-40T= (n.9-40T=)
4g.73442257A>TCA2578111920AFPc.483-39A>T (n.483-39A>T)
c.480-39A>T (n.480-39A>T)
c.9-39A>T (n.9-39A>T)
4g.73442258G>ACA1064122145AFPc.483-38G>A (n.483-38G>A)
c.480-38G>A (n.480-38G>A)
c.9-38G>A (n.9-38G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.73442258G=CA1468178452AFPc.483-38G= (n.483-38G=)
c.480-38G= (n.480-38G=)
c.9-38G= (n.9-38G=)
4g.73442259G>ACA2670968482AFPc.483-37G>A (n.483-37G>A)
c.480-37G>A (n.480-37G>A)
c.9-37G>A (n.9-37G>A)
 gnomAD v4
4g.73442259G=CA1468178456AFPc.483-37G= (n.483-37G=)
c.480-37G= (n.480-37G=)
c.9-37G= (n.9-37G=)
4g.73442259G>TCA552303740AFPc.483-37G>T (n.483-37G>T)
c.480-37G>T (n.480-37G>T)
c.9-37G>T (n.9-37G>T)
 dbSNP gnomAD v2 gnomAD v4
4g.73442260T>ACA2670968483AFPc.483-36T>A (n.483-36T>A)
c.480-36T>A (n.480-36T>A)
c.9-36T>A (n.9-36T>A)
 gnomAD v4
4g.73442260T>CCA552303741AFPc.483-36T>C (n.483-36T>C)
c.480-36T>C (n.480-36T>C)
c.9-36T>C (n.9-36T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.73442260T=CA1468178459AFPc.483-36T= (n.483-36T=)
c.480-36T= (n.480-36T=)
c.9-36T= (n.9-36T=)
4g.73442261G>TCA2670968485AFPc.483-35G>T (n.483-35G>T)
c.480-35G>T (n.480-35G>T)
c.9-35G>T (n.9-35G>T)
 gnomAD v4
4g.73442263T>CCA2959930AFPc.483-33T>C (n.483-33T>C)
c.480-33T>C (n.480-33T>C)
c.9-33T>C (n.9-33T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.73442263T=CA1468178463AFPc.483-33T= (n.483-33T=)
c.480-33T= (n.480-33T=)
c.9-33T= (n.9-33T=)
4g.73442265A=CA1468178467AFPc.483-31A= (n.483-31A=)
c.480-31A= (n.480-31A=)
c.9-31A= (n.9-31A=)
4g.73442265A>GCA2959931AFPc.483-31A>G (n.483-31A>G)
c.480-31A>G (n.480-31A>G)
c.9-31A>G (n.9-31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.73442267A>TCA2578111921AFPc.483-29A>T (n.483-29A>T)
c.480-29A>T (n.480-29A>T)
c.9-29A>T (n.9-29A>T)
 gnomAD v4
4g.73442270T>ACA2959932AFPc.483-26T>A (n.483-26T>A)
c.480-26T>A (n.480-26T>A)
c.9-26T>A (n.9-26T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73442270T>CCA2670968489AFPc.483-26T>C (n.483-26T>C)
c.480-26T>C (n.480-26T>C)
c.9-26T>C (n.9-26T>C)
 gnomAD v4
4g.73442270T=CA1468178469AFPc.483-26T= (n.483-26T=)
c.480-26T= (n.480-26T=)
c.9-26T= (n.9-26T=)
4g.73442271C>ACA2670968490AFPc.483-25C>A (n.483-25C>A)
c.480-25C>A (n.480-25C>A)
c.9-25C>A (n.9-25C>A)
 gnomAD v4
4g.73442272T>CCA2578111922AFPc.483-24T>C (n.483-24T>C)
c.480-24T>C (n.480-24T>C)
c.9-24T>C (n.9-24T>C)
 gnomAD v4
4g.73442273T>ACA552303742AFPc.483-23T>A (n.483-23T>A)
c.480-23T>A (n.480-23T>A)
c.9-23T>A (n.9-23T>A)
 dbSNP gnomAD v2 gnomAD v4
4g.73442273T=CA1468178471AFPc.483-23T= (n.483-23T=)
c.480-23T= (n.480-23T=)
c.9-23T= (n.9-23T=)
4g.73442275T>CCA2959933AFPc.483-21T>C (n.483-21T>C)
c.480-21T>C (n.480-21T>C)
c.9-21T>C (n.9-21T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73442275T=CA1468178476AFPc.483-21T= (n.483-21T=)
c.480-21T= (n.480-21T=)
c.9-21T= (n.9-21T=)
4g.73442276A>GCA2670968492AFPc.483-20A>G (n.483-20A>G)
c.480-20A>G (n.480-20A>G)
c.9-20A>G (n.9-20A>G)
 gnomAD v4
4g.73442277G>CCA2959934AFPc.483-19G>C (n.483-19G>C)
c.480-19G>C (n.480-19G>C)
c.9-19G>C (n.9-19G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73442277G=CA1468178480AFPc.483-19G= (n.483-19G=)
c.480-19G= (n.480-19G=)
c.9-19G= (n.9-19G=)
4g.73442277G>TCA2670968494AFPc.483-19G>T (n.483-19G>T)
c.480-19G>T (n.480-19G>T)
c.9-19G>T (n.9-19G>T)
 gnomAD v4
4g.73442278C=CA1468178485AFPc.483-18C= (n.483-18C=)
c.480-18C= (n.480-18C=)
c.9-18C= (n.9-18C=)
4g.73442278C>GCA99671527AFPc.483-18C>G (n.483-18C>G)
c.480-18C>G (n.480-18C>G)
c.9-18C>G (n.9-18C>G)
 dbSNP
4g.73442278C>TCA552303744AFPc.483-18C>T (n.483-18C>T)
c.480-18C>T (n.480-18C>T)
c.9-18C>T (n.9-18C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.73442279T>CCA2762178478AFPc.483-17T>C (n.483-17T>C)
c.480-17T>C (n.480-17T>C)
c.9-17T>C (n.9-17T>C)
4g.73442282A>GCA2670968497AFPc.483-14A>G (n.483-14A>G)
c.480-14A>G (n.480-14A>G)
c.9-14A>G (n.9-14A>G)
 gnomAD v4
4g.73442286T>GCA99671530AFPc.483-10T>G (n.483-10T>G)
c.480-10T>G (n.480-10T>G)
c.9-10T>G (n.9-10T>G)
 dbSNP
4g.73442286T=CA1468178488AFPc.483-10T= (n.483-10T=)
c.480-10T= (n.480-10T=)
c.9-10T= (n.9-10T=)
4g.73442289T>CCA2959935AFPc.483-7T>C (n.483-7T>C)
c.480-7T>C (n.480-7T>C)
c.9-7T>C (n.9-7T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73442289T=CA1468178492AFPc.483-7T= (n.483-7T=)
c.480-7T= (n.480-7T=)
c.9-7T= (n.9-7T=)
4g.73442290T>GCA2959936AFPc.483-6T>G (n.483-6T>G)
c.480-6T>G (n.480-6T>G)
c.9-6T>G (n.9-6T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73442290T=CA1468178497AFPc.483-6T= (n.483-6T=)
c.480-6T= (n.480-6T=)
c.9-6T= (n.9-6T=)
4g.73442291C>ACA2670968498AFPc.483-5C>A (n.483-5C>A)
c.480-5C>A (n.480-5C>A)
c.9-5C>A (n.9-5C>A)
 gnomAD v4
4g.73442293C>TCA2578111923AFPc.483-3C>T (n.483-3C>T)
c.480-3C>T (n.480-3C>T)
c.9-3C>T (n.9-3C>T)
 gnomAD v4
4g.73442294A>CCA357236365AFPc.483-2A>C (n.483-2A>C)
c.480-2A>C (n.480-2A>C)
c.9-2A>C (n.9-2A>C)
4g.73442294A>GCA357236362AFPc.483-2A>G (n.483-2A>G)
c.480-2A>G (n.480-2A>G)
c.9-2A>G (n.9-2A>G)
4g.73442294A>TCA357236363AFPc.483-2A>T (n.483-2A>T)
c.480-2A>T (n.480-2A>T)
c.9-2A>T (n.9-2A>T)
4g.73442295G>ACA357236368AFPc.483-1G>A (n.483-1G>A)
c.480-1G>A (n.480-1G>A)
c.9-1G>A (n.9-1G>A)
4g.73442295G>CCA357236369AFPc.483-1G>C (n.483-1G>C)
c.480-1G>C (n.480-1G>C)
c.9-1G>C (n.9-1G>C)
4g.73442295G>TCA357236372AFPc.483-1G>T (n.483-1G>T)
c.480-1G>T (n.480-1G>T)
c.9-1G>T (n.9-1G>T)
4g.73442296A>CCA357236374AFPc.483A>C (p.Lys161Asn)
c.480A>C (p.Lys160Asn)
c.9A>C (p.Lys3Asn)
4g.73442296A>GCA439800122AFPc.483A>G (p.Lys161=)
c.480A>G (p.Lys160=)
c.9A>G (p.Lys3=)
4g.73442296A>TCA357236376AFPc.483A>T (p.Lys161Asn)
c.480A>T (p.Lys160Asn)
c.9A>T (p.Lys3Asn)
4g.73442297T>ACA357236379AFPc.484T>A (p.Phe162Ile)
c.481T>A (p.Phe161Ile)
c.10T>A (p.Phe4Ile)
4g.73442297T>CCA357236380AFPc.484T>C (p.Phe162Leu)
c.481T>C (p.Phe161Leu)
c.10T>C (p.Phe4Leu)
 gnomAD v4
4g.73442297T>GCA357236383AFPc.484T>G (p.Phe162Val)
c.481T>G (p.Phe161Val)
c.10T>G (p.Phe4Val)
4g.73442298T>ACA357236385AFPc.485T>A (p.Phe162Tyr)
c.482T>A (p.Phe161Tyr)
c.11T>A (p.Phe4Tyr)
4g.73442298T>CCA357236386AFPc.485T>C (p.Phe162Ser)
c.482T>C (p.Phe161Ser)
c.11T>C (p.Phe4Ser)
4g.73442298T>GCA357236388AFPc.485T>G (p.Phe162Cys)
c.482T>G (p.Phe161Cys)
c.11T>G (p.Phe4Cys)
4g.73442299C>ACA357236392AFPc.486C>A (p.Phe162Leu)
c.483C>A (p.Phe161Leu)
c.12C>A (p.Phe4Leu)
4g.73442299C>GCA357236390AFPc.486C>G (p.Phe162Leu)
c.483C>G (p.Phe161Leu)
c.12C>G (p.Phe4Leu)
4g.73442299C>TCA439800123AFPc.486C>T (p.Phe162=)
c.483C>T (p.Phe161=)
c.12C>T (p.Phe4=)
4g.73442300A>CCA357236394AFPc.487A>C (p.Ile163Leu)
c.484A>C (p.Ile162Leu)
c.13A>C (p.Ile5Leu)
4g.73442300A>GCA357236396AFPc.487A>G (p.Ile163Val)
c.484A>G (p.Ile162Val)
c.13A>G (p.Ile5Val)
4g.73442300A>TCA357236398AFPc.487A>T (p.Ile163Phe)
c.484A>T (p.Ile162Phe)
c.13A>T (p.Ile5Phe)
4g.73442301T>ACA357236401AFPc.488T>A (p.Ile163Asn)
c.485T>A (p.Ile162Asn)
c.14T>A (p.Ile5Asn)
4g.73442301T>CCA357236402AFPc.488T>C (p.Ile163Thr)
c.485T>C (p.Ile162Thr)
c.14T>C (p.Ile5Thr)
4g.73442301T>GCA357236404AFPc.488T>G (p.Ile163Ser)
c.485T>G (p.Ile162Ser)
c.14T>G (p.Ile5Ser)
4g.73442302T>ACA439800124AFPc.489T>A (p.Ile163=)
c.486T>A (p.Ile162=)
c.15T>A (p.Ile5=)
4g.73442302T>CCA439800125AFPc.489T>C (p.Ile163=)
c.486T>C (p.Ile162=)
c.15T>C (p.Ile5=)
4g.73442302T>GCA357236406AFPc.489T>G (p.Ile163Met)
c.486T>G (p.Ile162Met)
c.15T>G (p.Ile5Met)
4g.73442303T>ACA357236408AFPc.490T>A (p.Tyr164Asn)
c.487T>A (p.Tyr163Asn)
c.16T>A (p.Tyr6Asn)
4g.73442303T>CCA357236410AFPc.490T>C (p.Tyr164His)
c.487T>C (p.Tyr163His)
c.16T>C (p.Tyr6His)
4g.73442303T>GCA357236412AFPc.490T>G (p.Tyr164Asp)
c.487T>G (p.Tyr163Asp)
c.16T>G (p.Tyr6Asp)
4g.73442304A=CA1468178500AFPc.491A= (p.Tyr164=)
c.488A= (p.Tyr163=)
c.17A= (p.Tyr6=)
4g.73442304A>CCA357236414AFPc.491A>C (p.Tyr164Ser)
c.488A>C (p.Tyr163Ser)
c.17A>C (p.Tyr6Ser)
4g.73442304A>GCA357236416AFPc.491A>G (p.Tyr164Cys)
c.488A>G (p.Tyr163Cys)
c.17A>G (p.Tyr6Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.73442304A>TCA357236418AFPc.491A>T (p.Tyr164Phe)
c.488A>T (p.Tyr163Phe)
c.17A>T (p.Tyr6Phe)
4g.73442305T>ACA357236421AFPc.492T>A (p.Tyr164Ter)
c.489T>A (p.Tyr163Ter)
c.18T>A (p.Tyr6Ter)
 gnomAD v4
4g.73442305T>CCA439800126AFPc.492T>C (p.Tyr164=)
c.489T>C (p.Tyr163=)
c.18T>C (p.Tyr6=)
 gnomAD v4
4g.73442305T>GCA357236423AFPc.492T>G (p.Tyr164Ter)
c.489T>G (p.Tyr163Ter)
c.18T>G (p.Tyr6Ter)
4g.73442306G>ACA357236425AFPc.493G>A (p.Glu165Lys)
c.490G>A (p.Glu164Lys)
c.19G>A (p.Glu7Lys)
4g.73442306G>CCA357236427AFPc.493G>C (p.Glu165Gln)
c.490G>C (p.Glu164Gln)
c.19G>C (p.Glu7Gln)
 gnomAD v4
4g.73442306G>TCA357236429AFPc.493G>T (p.Glu165Ter)
c.490G>T (p.Glu164Ter)
c.19G>T (p.Glu7Ter)
4g.73442307A>CCA357236431AFPc.494A>C (p.Glu165Ala)
c.491A>C (p.Glu164Ala)
c.20A>C (p.Glu7Ala)
4g.73442307A>GCA357236433AFPc.494A>G (p.Glu165Gly)
c.491A>G (p.Glu164Gly)
c.20A>G (p.Glu7Gly)
4g.73442307A>TCA357236435AFPc.494A>T (p.Glu165Val)
c.491A>T (p.Glu164Val)
c.20A>T (p.Glu7Val)
4g.73442308G>ACA439800127AFPc.495G>A (p.Glu165=)
c.492G>A (p.Glu164=)
c.21G>A (p.Glu7=)
 gnomAD v4
4g.73442308G>CCA357236437AFPc.495G>C (p.Glu165Asp)
c.492G>C (p.Glu164Asp)
c.21G>C (p.Glu7Asp)
4g.73442308G>TCA357236439AFPc.495G>T (p.Glu165Asp)
c.492G>T (p.Glu164Asp)
c.21G>T (p.Glu7Asp)
4g.73442309A=CA1468178506AFPc.496A= (p.Ile166=)
c.493A= (p.Ile165=)
c.22A= (p.Ile8=)
4g.73442309A>CCA357236441AFPc.496A>C (p.Ile166Leu)
c.493A>C (p.Ile165Leu)
c.22A>C (p.Ile8Leu)
4g.73442309A>GCA99671542AFPc.496A>G (p.Ile166Val)
c.493A>G (p.Ile165Val)
c.22A>G (p.Ile8Val)
 dbSNP
4g.73442309A>TCA357236443AFPc.496A>T (p.Ile166Leu)
c.493A>T (p.Ile165Leu)
c.22A>T (p.Ile8Leu)
4g.73442310T>ACA357236446AFPc.497T>A (p.Ile166Lys)
c.494T>A (p.Ile165Lys)
c.23T>A (p.Ile8Lys)
4g.73442310T>CCA357236448AFPc.497T>C (p.Ile166Thr)
c.494T>C (p.Ile165Thr)
c.23T>C (p.Ile8Thr)
 dbSNP gnomAD v4
4g.73442310T>GCA357236451AFPc.497T>G (p.Ile166Arg)
c.494T>G (p.Ile165Arg)
c.23T>G (p.Ile8Arg)
4g.73442311A>CCA439800128AFPc.498A>C (p.Ile166=)
c.495A>C (p.Ile165=)
c.24A>C (p.Ile8=)
4g.73442311A>GCA357236452AFPc.498A>G (p.Ile166Met)
c.495A>G (p.Ile165Met)
c.24A>G (p.Ile8Met)
4g.73442311A>TCA439800129AFPc.498A>T (p.Ile166=)
c.495A>T (p.Ile165=)
c.24A>T (p.Ile8=)
4g.73442312G>ACA357236455AFPc.499G>A (p.Ala167Thr)
c.496G>A (p.Ala166Thr)
c.25G>A (p.Ala9Thr)
4g.73442312G>CCA357236459AFPc.499G>C (p.Ala167Pro)
c.496G>C (p.Ala166Pro)
c.25G>C (p.Ala9Pro)
4g.73442312G>TCA357236457AFPc.499G>T (p.Ala167Ser)
c.496G>T (p.Ala166Ser)
c.25G>T (p.Ala9Ser)
4g.73442313C>ACA357236461AFPc.500C>A (p.Ala167Glu)
c.497C>A (p.Ala166Glu)
c.26C>A (p.Ala9Glu)
4g.73442313C=CA1468178509AFPc.500C= (p.Ala167=)
c.497C= (p.Ala166=)
c.26C= (p.Ala9=)
4g.73442313C>GCA357236463AFPc.500C>G (p.Ala167Gly)
c.497C>G (p.Ala166Gly)
c.26C>G (p.Ala9Gly)
4g.73442313C>TCA99671551AFPc.500C>T (p.Ala167Val)
c.497C>T (p.Ala166Val)
c.26C>T (p.Ala9Val)
 dbSNP gnomAD v3 gnomAD v4
4g.73442314A>CCA439800130AFPc.501A>C (p.Ala167=)
c.498A>C (p.Ala166=)
c.27A>C (p.Ala9=)
4g.73442314A>GCA439800131AFPc.501A>G (p.Ala167=)
c.498A>G (p.Ala166=)
c.27A>G (p.Ala9=)
4g.73442314A>TCA439800132AFPc.501A>T (p.Ala167=)
c.498A>T (p.Ala166=)
c.27A>T (p.Ala9=)
4g.73442315A>CCA439800133AFPc.502A>C (p.Arg168=)
c.499A>C (p.Arg167=)
c.28A>C (p.Arg10=)
4g.73442315A>GCA357236466AFPc.502A>G (p.Arg168Gly)
c.499A>G (p.Arg167Gly)
c.28A>G (p.Arg10Gly)
4g.73442315A>TCA357236468AFPc.502A>T (p.Arg168Ter)
c.499A>T (p.Arg167Ter)
c.28A>T (p.Arg10Ter)
4g.73442316G>ACA357236470AFPc.503G>A (p.Arg168Lys)
c.500G>A (p.Arg167Lys)
c.29G>A (p.Arg10Lys)
4g.73442316G>CCA357236472AFPc.503G>C (p.Arg168Thr)
c.500G>C (p.Arg167Thr)
c.29G>C (p.Arg10Thr)
4g.73442316G>TCA357236474AFPc.503G>T (p.Arg168Ile)
c.500G>T (p.Arg167Ile)
c.29G>T (p.Arg10Ile)
4g.73442317A>CCA357236476AFPc.504A>C (p.Arg168Ser)
c.501A>C (p.Arg167Ser)
c.30A>C (p.Arg10Ser)
4g.73442317A>GCA439800134AFPc.504A>G (p.Arg168=)
c.501A>G (p.Arg167=)
c.30A>G (p.Arg10=)
 gnomAD v4
4g.73442317A>TCA357236478AFPc.504A>T (p.Arg168Ser)
c.501A>T (p.Arg167Ser)
c.30A>T (p.Arg10Ser)
4g.73442318A>CCA439800135AFPc.505A>C (p.Arg169=)
c.502A>C (p.Arg168=)
c.31A>C (p.Arg11=)
4g.73442318A>GCA357236481AFPc.505A>G (p.Arg169Gly)
c.502A>G (p.Arg168Gly)
c.31A>G (p.Arg11Gly)
4g.73442318A>TCA357236482AFPc.505A>T (p.Arg169Trp)
c.502A>T (p.Arg168Trp)
c.31A>T (p.Arg11Trp)
4g.73442319G>ACA2959937AFPc.506G>A (p.Arg169Lys)
c.503G>A (p.Arg168Lys)
c.32G>A (p.Arg11Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73442319G>CCA357236486AFPc.506G>C (p.Arg169Thr)
c.503G>C (p.Arg168Thr)
c.32G>C (p.Arg11Thr)
4g.73442319G=CA1468178514AFPc.506G= (p.Arg169=)
c.503G= (p.Arg168=)
c.32G= (p.Arg11=)
4g.73442319G>TCA357236484AFPc.506G>T (p.Arg169Met)
c.503G>T (p.Arg168Met)
c.32G>T (p.Arg11Met)
4g.73442320G>ACA439800136AFPc.507G>A (p.Arg169=)
c.504G>A (p.Arg168=)
c.33G>A (p.Arg11=)
 gnomAD v4
4g.73442320G>CCA357236488AFPc.507G>C (p.Arg169Ser)
c.504G>C (p.Arg168Ser)
c.33G>C (p.Arg11Ser)
4g.73442320G=CA1468178516AFPc.507G= (p.Arg169=)
c.504G= (p.Arg168=)
c.33G= (p.Arg11=)
4g.73442320G>TCA357236490AFPc.507G>T (p.Arg169Ser)
c.504G>T (p.Arg168Ser)
c.33G>T (p.Arg11Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.73442321C>ACA357236492AFPc.508C>A (p.His170Asn)
c.505C>A (p.His169Asn)
c.34C>A (p.His12Asn)
4g.73442321C>GCA357236494AFPc.508C>G (p.His170Asp)
c.505C>G (p.His169Asp)
c.34C>G (p.His12Asp)
4g.73442321C>TCA357236496AFPc.508C>T (p.His170Tyr)
c.505C>T (p.His169Tyr)
c.34C>T (p.His12Tyr)
4g.73442322A=CA1468178520AFPc.509A= (p.His170=)
c.506A= (p.His169=)
c.35A= (p.His12=)
4g.73442322A>CCA357236498AFPc.509A>C (p.His170Pro)
c.506A>C (p.His169Pro)
c.35A>C (p.His12Pro)
4g.73442322A>GCA2959938AFPc.509A>G (p.His170Arg)
c.506A>G (p.His169Arg)
c.35A>G (p.His12Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73442322A>TCA357236501AFPc.509A>T (p.His170Leu)
c.506A>T (p.His169Leu)
c.35A>T (p.His12Leu)
4g.73442323T>ACA357236503AFPc.510T>A (p.His170Gln)
c.507T>A (p.His169Gln)
c.36T>A (p.His12Gln)
 gnomAD v4
4g.73442323T>CCA439800137AFPc.510T>C (p.His170=)
c.507T>C (p.His169=)
c.36T>C (p.His12=)
 dbSNP gnomAD v4
4g.73442323T>GCA357236505AFPc.510T>G (p.His170Gln)
c.507T>G (p.His169Gln)
c.36T>G (p.His12Gln)
4g.73442324C>ACA357236507AFPc.511C>A (p.Pro171Thr)
c.508C>A (p.Pro170Thr)
c.37C>A (p.Pro13Thr)
 gnomAD v4
4g.73442324C=CA1468178522AFPc.511C= (p.Pro171=)
c.508C= (p.Pro170=)
c.37C= (p.Pro13=)
4g.73442324C>GCA357236509AFPc.511C>G (p.Pro171Ala)
c.508C>G (p.Pro170Ala)
c.37C>G (p.Pro13Ala)
4g.73442324C>TCA357236511AFPc.511C>T (p.Pro171Ser)
c.508C>T (p.Pro170Ser)
c.37C>T (p.Pro13Ser)
 dbSNP gnomAD v4
4g.73442325C>ACA357236513AFPc.512C>A (p.Pro171His)
c.509C>A (p.Pro170His)
c.38C>A (p.Pro13His)
 gnomAD v4
4g.73442325C=CA1468178524AFPc.512C= (p.Pro171=)
c.509C= (p.Pro170=)
c.38C= (p.Pro13=)
4g.73442325C>GCA2959939AFPc.512C>G (p.Pro171Arg)
c.509C>G (p.Pro170Arg)
c.38C>G (p.Pro13Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73442325C>TCA357236514AFPc.512C>T (p.Pro171Leu)
c.509C>T (p.Pro170Leu)
c.38C>T (p.Pro13Leu)
4g.73442326C>ACA439800138AFPc.513C>A (p.Pro171=)
c.510C>A (p.Pro170=)
c.39C>A (p.Pro13=)
4g.73442326C>GCA439800140AFPc.513C>G (p.Pro171=)
c.510C>G (p.Pro170=)
c.39C>G (p.Pro13=)
4g.73442326C>TCA439800139AFPc.513C>T (p.Pro171=)
c.510C>T (p.Pro170=)
c.39C>T (p.Pro13=)
4g.73442327T>ACA357236517AFPc.514T>A (p.Phe172Ile)
c.511T>A (p.Phe171Ile)
c.40T>A (p.Phe14Ile)
4g.73442327T>CCA357236518AFPc.514T>C (p.Phe172Leu)
c.511T>C (p.Phe171Leu)
c.40T>C (p.Phe14Leu)
4g.73442327T>GCA357236519AFPc.514T>G (p.Phe172Val)
c.511T>G (p.Phe171Val)
c.40T>G (p.Phe14Val)
4g.73442328T>ACA357236522AFPc.515T>A (p.Phe172Tyr)
c.512T>A (p.Phe171Tyr)
c.41T>A (p.Phe14Tyr)
4g.73442328T>CCA357236524AFPc.515T>C (p.Phe172Ser)
c.512T>C (p.Phe171Ser)
c.41T>C (p.Phe14Ser)
4g.73442328T>GCA357236525AFPc.515T>G (p.Phe172Cys)
c.512T>G (p.Phe171Cys)
c.41T>G (p.Phe14Cys)
4g.73442329C>ACA357236527AFPc.516C>A (p.Phe172Leu)
c.513C>A (p.Phe171Leu)
c.42C>A (p.Phe14Leu)
4g.73442329C=CA1468178527AFPc.516C= (p.Phe172=)
c.513C= (p.Phe171=)
c.42C= (p.Phe14=)
4g.73442329C>GCA357236528AFPc.516C>G (p.Phe172Leu)
c.513C>G (p.Phe171Leu)
c.42C>G (p.Phe14Leu)
4g.73442329C>TCA439800141AFPc.516C>T (p.Phe172=)
c.513C>T (p.Phe171=)
c.42C>T (p.Phe14=)
 dbSNP gnomAD v4
4g.73442330C>ACA357236531AFPc.517C>A (p.Leu173Met)
c.514C>A (p.Leu172Met)
c.43C>A (p.Leu15Met)
4g.73442330C=CA1468178530AFPc.517C= (p.Leu173=)
c.514C= (p.Leu172=)
c.43C= (p.Leu15=)
4g.73442330C>GCA357236533AFPc.517C>G (p.Leu173Val)
c.514C>G (p.Leu172Val)
c.43C>G (p.Leu15Val)
4g.73442330C>TCA439800142AFPc.517C>T (p.Leu173=)
c.514C>T (p.Leu172=)
c.43C>T (p.Leu15=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.73442331T>ACA357236540AFPc.518T>A (p.Leu173Gln)
c.515T>A (p.Leu172Gln)
c.44T>A (p.Leu15Gln)
4g.73442331T>CCA357236538AFPc.518T>C (p.Leu173Pro)
c.515T>C (p.Leu172Pro)
c.44T>C (p.Leu15Pro)
4g.73442331T>GCA357236536AFPc.518T>G (p.Leu173Arg)
c.515T>G (p.Leu172Arg)
c.44T>G (p.Leu15Arg)
4g.73442332G>ACA2959940AFPc.519G>A (p.Leu173=)
c.516G>A (p.Leu172=)
c.45G>A (p.Leu15=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.73442332G>CCA2959941AFPc.519G>C (p.Leu173=)
c.516G>C (p.Leu172=)
c.45G>C (p.Leu15=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.73442332G=CA1468178537AFPc.519G= (p.Leu173=)
c.516G= (p.Leu172=)
c.45G= (p.Leu15=)
4g.73442332G>TCA439800143AFPc.519G>T (p.Leu173=)
c.516G>T (p.Leu172=)
c.45G>T (p.Leu15=)
4g.73442333T>ACA357236544AFPc.520T>A (p.Tyr174Asn)
c.517T>A (p.Tyr173Asn)
c.46T>A (p.Tyr16Asn)
 dbSNP
4g.73442333T>CCA357236548AFPc.520T>C (p.Tyr174His)
c.517T>C (p.Tyr173His)
c.46T>C (p.Tyr16His)
4g.73442333T>GCA357236546AFPc.520T>G (p.Tyr174Asp)
c.517T>G (p.Tyr173Asp)
c.46T>G (p.Tyr16Asp)
4g.73442333T=CA1468178542AFPc.520T= (p.Tyr174=)
c.517T= (p.Tyr173=)
c.46T= (p.Tyr16=)
4g.73442334A>CCA357236550AFPc.521A>C (p.Tyr174Ser)
c.518A>C (p.Tyr173Ser)
c.47A>C (p.Tyr16Ser)
4g.73442334A>GCA357236554AFPc.521A>G (p.Tyr174Cys)
c.518A>G (p.Tyr173Cys)
c.47A>G (p.Tyr16Cys)
 gnomAD v4
4g.73442334A>TCA357236552AFPc.521A>T (p.Tyr174Phe)
c.518A>T (p.Tyr173Phe)
c.47A>T (p.Tyr16Phe)
4g.73442335T>ACA357236556AFPc.522T>A (p.Tyr174Ter)
c.519T>A (p.Tyr173Ter)
c.48T>A (p.Tyr16Ter)
4g.73442335T>CCA2959942AFPc.522T>C (p.Tyr174=)
c.519T>C (p.Tyr173=)
c.48T>C (p.Tyr16=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.73442335T>GCA357236558AFPc.522T>G (p.Tyr174Ter)
c.519T>G (p.Tyr173Ter)
c.48T>G (p.Tyr16Ter)
4g.73442335T=CA1468178543AFPc.522T= (p.Tyr174=)
c.519T= (p.Tyr173=)
c.48T= (p.Tyr16=)
4g.73442336G>ACA357236560AFPc.523G>A (p.Ala175Thr)
c.520G>A (p.Ala174Thr)
c.49G>A (p.Ala17Thr)
4g.73442336G>CCA357236564AFPc.523G>C (p.Ala175Pro)
c.520G>C (p.Ala174Pro)
c.49G>C (p.Ala17Pro)
4g.73442336G=CA1468178546AFPc.523G= (p.Ala175=)
c.520G= (p.Ala174=)
c.49G= (p.Ala17=)
4g.73442336G>TCA357236562AFPc.523G>T (p.Ala175Ser)
c.520G>T (p.Ala174Ser)
c.49G>T (p.Ala17Ser)
 dbSNP
4g.73442337C>ACA357236566AFPc.524C>A (p.Ala175Glu)
c.521C>A (p.Ala174Glu)
c.50C>A (p.Ala17Glu)
4g.73442337C>GCA357236568AFPc.524C>G (p.Ala175Gly)
c.521C>G (p.Ala174Gly)
c.50C>G (p.Ala17Gly)
4g.73442337C>TCA357236570AFPc.524C>T (p.Ala175Val)
c.521C>T (p.Ala174Val)
c.50C>T (p.Ala17Val)
 gnomAD v4
4g.73442338A=CA1468178550AFPc.525A= (p.Ala175=)
c.522A= (p.Ala174=)
c.51A= (p.Ala17=)
4g.73442338A>CCA2959943AFPc.525A>C (p.Ala175=)
c.522A>C (p.Ala174=)
c.51A>C (p.Ala17=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73442338A>GCA439800145AFPc.525A>G (p.Ala175=)
c.522A>G (p.Ala174=)
c.51A>G (p.Ala17=)
4g.73442338A>TCA439800146AFPc.525A>T (p.Ala175=)
c.522A>T (p.Ala174=)
c.51A>T (p.Ala17=)
4g.73442339C>ACA2959944AFPc.526C>A (p.Pro176Thr)
c.523C>A (p.Pro175Thr)
c.52C>A (p.Pro18Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73442339C=CA1468178554AFPc.526C= (p.Pro176=)
c.523C= (p.Pro175=)
c.52C= (p.Pro18=)
4g.73442339C>GCA357236575AFPc.526C>G (p.Pro176Ala)
c.523C>G (p.Pro175Ala)
c.52C>G (p.Pro18Ala)
4g.73442339C>TCA357236577AFPc.526C>T (p.Pro176Ser)
c.523C>T (p.Pro175Ser)
c.52C>T (p.Pro18Ser)
4g.73442340C>ACA357236579AFPc.527C>A (p.Pro176His)
c.524C>A (p.Pro175His)
c.53C>A (p.Pro18His)
4g.73442340C>GCA357236584AFPc.527C>G (p.Pro176Arg)
c.524C>G (p.Pro175Arg)
c.53C>G (p.Pro18Arg)
4g.73442340C>TCA357236585AFPc.527C>T (p.Pro176Leu)
c.524C>T (p.Pro175Leu)
c.53C>T (p.Pro18Leu)
4g.73442341T>ACA439800151AFPc.528T>A (p.Pro176=)
c.525T>A (p.Pro175=)
c.54T>A (p.Pro18=)
4g.73442341T>CCA439800150AFPc.528T>C (p.Pro176=)
c.525T>C (p.Pro175=)
c.54T>C (p.Pro18=)
4g.73442341T>GCA439800148AFPc.528T>G (p.Pro176=)
c.525T>G (p.Pro175=)
c.54T>G (p.Pro18=)
4g.73442342A=CA1468178556AFPc.529A= (p.Thr177=)
c.526A= (p.Thr176=)
c.55A= (p.Thr19=)
4g.73442342A>CCA357236588AFPc.529A>C (p.Thr177Pro)
c.526A>C (p.Thr176Pro)
c.55A>C (p.Thr19Pro)
4g.73442342A>GCA357236590AFPc.529A>G (p.Thr177Ala)
c.526A>G (p.Thr176Ala)
c.55A>G (p.Thr19Ala)
 dbSNP gnomAD v2
4g.73442342A>TCA357236591AFPc.529A>T (p.Thr177Ser)
c.526A>T (p.Thr176Ser)
c.55A>T (p.Thr19Ser)
4g.73442343C>ACA2959945AFPc.530C>A (p.Thr177Lys)
c.527C>A (p.Thr176Lys)
c.56C>A (p.Thr19Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73442343C=CA1468178560AFPc.530C= (p.Thr177=)
c.527C= (p.Thr176=)
c.56C= (p.Thr19=)
4g.73442343C>GCA99671577AFPc.530C>G (p.Thr177Arg)
c.527C>G (p.Thr176Arg)
c.56C>G (p.Thr19Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.73442343C>TCA357236594AFPc.530C>T (p.Thr177Ile)
c.527C>T (p.Thr176Ile)
c.56C>T (p.Thr19Ile)
4g.73442344A>CCA439800156AFPc.531A>C (p.Thr177=)
c.528A>C (p.Thr176=)
c.57A>C (p.Thr19=)
4g.73442344A>GCA439800157AFPc.531A>G (p.Thr177=)
c.528A>G (p.Thr176=)
c.57A>G (p.Thr19=)
4g.73442344A>TCA439800158AFPc.531A>T (p.Thr177=)
c.528A>T (p.Thr176=)
c.57A>T (p.Thr19=)
4g.73442345A=CA1468178565AFPc.532A= (p.Ile178=)
c.529A= (p.Ile177=)
c.58A= (p.Ile20=)
4g.73442345A>CCA357236595AFPc.532A>C (p.Ile178Leu)
c.529A>C (p.Ile177Leu)
c.58A>C (p.Ile20Leu)
4g.73442345A>GCA357236596AFPc.532A>G (p.Ile178Val)
c.529A>G (p.Ile177Val)
c.58A>G (p.Ile20Val)
 dbSNP gnomAD v2 gnomAD v4
4g.73442345A>TCA357236597AFPc.532A>T (p.Ile178Phe)
c.529A>T (p.Ile177Phe)
c.58A>T (p.Ile20Phe)
4g.73442346T>ACA357236599AFPc.533T>A (p.Ile178Asn)
c.530T>A (p.Ile177Asn)
c.59T>A (p.Ile20Asn)
4g.73442346T>CCA357236601AFPc.533T>C (p.Ile178Thr)
c.530T>C (p.Ile177Thr)
c.59T>C (p.Ile20Thr)
4g.73442346T>GCA357236603AFPc.533T>G (p.Ile178Ser)
c.530T>G (p.Ile177Ser)
c.59T>G (p.Ile20Ser)
4g.73442351_73442353delCA2670968531AFPc.538_540del (p.Leu180del)
c.535_537del (p.Leu179del)
c.64_66del (p.Leu22del)
 gnomAD v4
4g.73442347T>ACA439800163AFPc.534T>A (p.Ile178=)
c.531T>A (p.Ile177=)
c.60T>A (p.Ile20=)
4g.73442347T>CCA439800162AFPc.534T>C (p.Ile178=)
c.531T>C (p.Ile177=)
c.60T>C (p.Ile20=)
4g.73442347T>GCA357236604AFPc.534T>G (p.Ile178Met)
c.531T>G (p.Ile177Met)
c.60T>G (p.Ile20Met)
4g.73442348C>ACA357236606AFPc.535C>A (p.Leu179Ile)
c.532C>A (p.Leu178Ile)
c.61C>A (p.Leu21Ile)
 COSMIC
4g.73442348C>GCA357236612AFPc.535C>G (p.Leu179Val)
c.532C>G (p.Leu178Val)
c.61C>G (p.Leu21Val)
4g.73442348C>TCA357236614AFPc.535C>T (p.Leu179Phe)
c.532C>T (p.Leu178Phe)
c.61C>T (p.Leu21Phe)
4g.73442348_73442352delinsCTTCTCA1468178569AFPc.535_539delinsCTTCT (p.Leu179=)
c.532_536delinsCTTCT (p.Leu178=)
c.61_65delinsCTTCT (p.Leu21=)
4g.73442349T>ACA357236619AFPc.536T>A (p.Leu179His)
c.533T>A (p.Leu178His)
c.62T>A (p.Leu21His)
4g.73442349T>CCA357236617AFPc.536T>C (p.Leu179Pro)
c.533T>C (p.Leu178Pro)
c.62T>C (p.Leu21Pro)
4g.73442349T>GCA357236615AFPc.536T>G (p.Leu179Arg)
c.533T>G (p.Leu178Arg)
c.62T>G (p.Leu21Arg)
4g.73442350dupCA2512019574AFPc.537dup (p.Leu180SerfsTer7)
c.534dup (p.Leu179SerfsTer7)
c.63dup (p.Leu22SerfsTer7)
4g.73442351_73442354delCA798266796AFPc.538_541del (p.Leu180GlyfsTer8)
c.535_538del (p.Leu179GlyfsTer8)
c.64_67del (p.Leu22GlyfsTer8)
 dbSNP
4g.73442350T>ACA439800167AFPc.537T>A (p.Leu179=)
c.534T>A (p.Leu178=)
c.63T>A (p.Leu21=)
4g.73442350T>CCA439800168AFPc.537T>C (p.Leu179=)
c.534T>C (p.Leu178=)
c.63T>C (p.Leu21=)
4g.73442350T>GCA439800169AFPc.537T>G (p.Leu179=)
c.534T>G (p.Leu178=)
c.63T>G (p.Leu21=)
4g.73442351C>ACA357236623AFPc.538C>A (p.Leu180Ile)
c.535C>A (p.Leu179Ile)
c.64C>A (p.Leu22Ile)
 COSMIC
4g.73442351C>GCA357236620AFPc.538C>G (p.Leu180Val)
c.535C>G (p.Leu179Val)
c.64C>G (p.Leu22Val)
4g.73442351C>TCA357236621AFPc.538C>T (p.Leu180Phe)
c.535C>T (p.Leu179Phe)
c.64C>T (p.Leu22Phe)
4g.73442352T>ACA357236626AFPc.539T>A (p.Leu180His)
c.536T>A (p.Leu179His)
c.65T>A (p.Leu22His)
4g.73442352T>CCA357236628AFPc.539T>C (p.Leu180Pro)
c.536T>C (p.Leu179Pro)
c.65T>C (p.Leu22Pro)
4g.73442352T>GCA357236630AFPc.539T>G (p.Leu180Arg)
c.536T>G (p.Leu179Arg)
c.65T>G (p.Leu22Arg)
4g.73442353T>ACA439800173AFPc.540T>A (p.Leu180=)
c.537T>A (p.Leu179=)
c.66T>A (p.Leu22=)
4g.73442353T>CCA439800171AFPc.540T>C (p.Leu180=)
c.537T>C (p.Leu179=)
c.66T>C (p.Leu22=)
 dbSNP
4g.73442353T>GCA439800172AFPc.540T>G (p.Leu180=)
c.537T>G (p.Leu179=)
c.66T>G (p.Leu22=)
4g.73442353T=CA1468178575AFPc.540T= (p.Leu180=)
c.537T= (p.Leu179=)
c.66T= (p.Leu22=)
4g.73442354T>ACA357236636AFPc.541T>A (p.Trp181Arg)
c.538T>A (p.Trp180Arg)
c.67T>A (p.Trp23Arg)
4g.73442354T>CCA357236634AFPc.541T>C (p.Trp181Arg)
c.538T>C (p.Trp180Arg)
c.67T>C (p.Trp23Arg)
4g.73442354T>GCA357236632AFPc.541T>G (p.Trp181Gly)
c.538T>G (p.Trp180Gly)
c.67T>G (p.Trp23Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.73442354T=CA1468178579AFPc.541T= (p.Trp181=)
c.538T= (p.Trp180=)
c.67T= (p.Trp23=)
4g.73442355G>ACA357236637AFPc.542G>A (p.Trp181Ter)
c.539G>A (p.Trp180Ter)
c.68G>A (p.Trp23Ter)
4g.73442355G>CCA357236638AFPc.542G>C (p.Trp181Ser)
c.539G>C (p.Trp180Ser)
c.68G>C (p.Trp23Ser)
4g.73442355G=CA1468178581AFPc.542G= (p.Trp181=)
c.539G= (p.Trp180=)
c.68G= (p.Trp23=)
4g.73442355G>TCA99671581AFPc.542G>T (p.Trp181Leu)
c.539G>T (p.Trp180Leu)
c.68G>T (p.Trp23Leu)
 dbSNP
4g.73442357delCA2531045514AFPc.544del (p.Ala182LeufsTer7)
c.541del (p.Ala181LeufsTer7)
c.70del (p.Ala24LeufsTer7)
4g.73442356G>ACA127856AFPc.543G>A (p.Trp181Ter)
c.540G>A (p.Trp180Ter)
c.69G>A (p.Trp23Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.73442356G>CCA357236642AFPc.543G>C (p.Trp181Cys)
c.540G>C (p.Trp180Cys)
c.69G>C (p.Trp23Cys)
4g.73442356G=CA1468178587AFPc.543G= (p.Trp181=)
c.540G= (p.Trp180=)
c.69G= (p.Trp23=)
4g.73442356G>TCA357236644AFPc.543G>T (p.Trp181Cys)
c.540G>T (p.Trp180Cys)
c.69G>T (p.Trp23Cys)

Number of alleles fetched