Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.32000199G>ACA443642740PDZD2c.1182G>A (p.Gly394=)
n.938G>A
c.660G>A (p.Gly220=)
c.189G>A (p.Gly63=)
c.979-10131G>A (n.979-10131G>A)
c.457-10131G>A (n.457-10131G>A)
5g.32000199G>CCA443642741PDZD2c.1182G>C (p.Gly394=)
n.938G>C
c.660G>C (p.Gly220=)
c.189G>C (p.Gly63=)
c.979-10131G>C (n.979-10131G>C)
c.457-10131G>C (n.457-10131G>C)
5g.32000199G=CA1537300565PDZD2c.1182G= (p.Gly394=)
n.938G=
c.660G= (p.Gly220=)
c.189G= (p.Gly63=)
c.979-10131G= (n.979-10131G=)
c.457-10131G= (n.457-10131G=)
5g.32000199G>TCA443642742PDZD2c.1182G>T (p.Gly394=)
n.938G>T
c.660G>T (p.Gly220=)
c.189G>T (p.Gly63=)
c.979-10131G>T (n.979-10131G>T)
c.457-10131G>T (n.457-10131G>T)
 dbSNP
5g.32000200C>ACA359340742PDZD2c.1183C>A (p.Leu395Ile)
n.939C>A
c.661C>A (p.Leu221Ile)
c.190C>A (p.Leu64Ile)
c.979-10130C>A (n.979-10130C>A)
c.457-10130C>A (n.457-10130C>A)
5g.32000200C>GCA359340744PDZD2c.1183C>G (p.Leu395Val)
n.939C>G
c.661C>G (p.Leu221Val)
c.190C>G (p.Leu64Val)
c.979-10130C>G (n.979-10130C>G)
c.457-10130C>G (n.457-10130C>G)
5g.32000200C>TCA359340746PDZD2c.1183C>T (p.Leu395Phe)
n.939C>T
c.661C>T (p.Leu221Phe)
c.190C>T (p.Leu64Phe)
c.979-10130C>T (n.979-10130C>T)
c.457-10130C>T (n.457-10130C>T)
5g.32000201T>ACA359340748PDZD2c.1184T>A (p.Leu395His)
n.940T>A
c.662T>A (p.Leu221His)
c.191T>A (p.Leu64His)
c.979-10129T>A (n.979-10129T>A)
c.457-10129T>A (n.457-10129T>A)
5g.32000201T>CCA359340750PDZD2c.1184T>C (p.Leu395Pro)
n.940T>C
c.662T>C (p.Leu221Pro)
c.191T>C (p.Leu64Pro)
c.979-10129T>C (n.979-10129T>C)
c.457-10129T>C (n.457-10129T>C)
 gnomAD v4
5g.32000201T>GCA359340752PDZD2c.1184T>G (p.Leu395Arg)
n.940T>G
c.662T>G (p.Leu221Arg)
c.191T>G (p.Leu64Arg)
c.979-10129T>G (n.979-10129T>G)
c.457-10129T>G (n.457-10129T>G)
5g.32000202C>ACA443642744PDZD2c.1185C>A (p.Leu395=)
n.941C>A
c.663C>A (p.Leu221=)
c.192C>A (p.Leu64=)
c.979-10128C>A (n.979-10128C>A)
c.457-10128C>A (n.457-10128C>A)
5g.32000202C=CA1537300572PDZD2c.1185C= (p.Leu395=)
n.941C=
c.663C= (p.Leu221=)
c.192C= (p.Leu64=)
c.979-10128C= (n.979-10128C=)
c.457-10128C= (n.457-10128C=)
5g.32000202C>GCA443642745PDZD2c.1185C>G (p.Leu395=)
n.941C>G
c.663C>G (p.Leu221=)
c.192C>G (p.Leu64=)
c.979-10128C>G (n.979-10128C>G)
c.457-10128C>G (n.457-10128C>G)
 dbSNP gnomAD v2 gnomAD v4
5g.32000202C>TCA443642746PDZD2c.1185C>T (p.Leu395=)
n.941C>T
c.663C>T (p.Leu221=)
c.192C>T (p.Leu64=)
c.979-10128C>T (n.979-10128C>T)
c.457-10128C>T (n.457-10128C>T)
 gnomAD v4
5g.32000203T>ACA115832405PDZD2c.1186T>A (p.Ser396Thr)
n.942T>A
c.664T>A (p.Ser222Thr)
c.193T>A (p.Ser65Thr)
c.979-10127T>A (n.979-10127T>A)
c.457-10127T>A (n.457-10127T>A)
 dbSNP
5g.32000203T>CCA359340755PDZD2c.1186T>C (p.Ser396Pro)
n.942T>C
c.664T>C (p.Ser222Pro)
c.193T>C (p.Ser65Pro)
c.979-10127T>C (n.979-10127T>C)
c.457-10127T>C (n.457-10127T>C)
5g.32000203T>GCA359340757PDZD2c.1186T>G (p.Ser396Ala)
n.942T>G
c.664T>G (p.Ser222Ala)
c.193T>G (p.Ser65Ala)
c.979-10127T>G (n.979-10127T>G)
c.457-10127T>G (n.457-10127T>G)
5g.32000203T=CA1537300577PDZD2c.1186T= (p.Ser396=)
n.942T=
c.664T= (p.Ser222=)
c.193T= (p.Ser65=)
c.979-10127T= (n.979-10127T=)
c.457-10127T= (n.457-10127T=)
5g.32000204C>ACA359340759PDZD2c.1187C>A (p.Ser396Tyr)
n.943C>A
c.665C>A (p.Ser222Tyr)
c.194C>A (p.Ser65Tyr)
c.979-10126C>A (n.979-10126C>A)
c.457-10126C>A (n.457-10126C>A)
5g.32000204C>GCA359340761PDZD2c.1187C>G (p.Ser396Cys)
n.943C>G
c.665C>G (p.Ser222Cys)
c.194C>G (p.Ser65Cys)
c.979-10126C>G (n.979-10126C>G)
c.457-10126C>G (n.457-10126C>G)
5g.32000204C>TCA359340762PDZD2c.1187C>T (p.Ser396Phe)
n.943C>T
c.665C>T (p.Ser222Phe)
c.194C>T (p.Ser65Phe)
c.979-10126C>T (n.979-10126C>T)
c.457-10126C>T (n.457-10126C>T)
 COSMIC
5g.32000205C>ACA443642747PDZD2c.1188C>A (p.Ser396=)
n.944C>A
c.666C>A (p.Ser222=)
c.195C>A (p.Ser65=)
c.979-10125C>A (n.979-10125C>A)
c.457-10125C>A (n.457-10125C>A)
5g.32000205C>GCA443642748PDZD2c.1188C>G (p.Ser396=)
n.944C>G
c.666C>G (p.Ser222=)
c.195C>G (p.Ser65=)
c.979-10125C>G (n.979-10125C>G)
c.457-10125C>G (n.457-10125C>G)
5g.32000205C>TCA443642749PDZD2c.1188C>T (p.Ser396=)
n.944C>T
c.666C>T (p.Ser222=)
c.195C>T (p.Ser65=)
c.979-10125C>T (n.979-10125C>T)
c.457-10125C>T (n.457-10125C>T)
5g.32000206C>ACA359340765PDZD2c.1189C>A (p.His397Asn)
n.945C>A
c.667C>A (p.His223Asn)
c.196C>A (p.His66Asn)
c.979-10124C>A (n.979-10124C>A)
c.457-10124C>A (n.457-10124C>A)
5g.32000206C=CA1537300580PDZD2c.1189C= (p.His397=)
n.945C=
c.667C= (p.His223=)
c.196C= (p.His66=)
c.979-10124C= (n.979-10124C=)
c.457-10124C= (n.457-10124C=)
5g.32000206C>GCA359340768PDZD2c.1189C>G (p.His397Asp)
n.945C>G
c.667C>G (p.His223Asp)
c.196C>G (p.His66Asp)
c.979-10124C>G (n.979-10124C>G)
c.457-10124C>G (n.457-10124C>G)
5g.32000206C>TCA359340767PDZD2c.1189C>T (p.His397Tyr)
n.945C>T
c.667C>T (p.His223Tyr)
c.196C>T (p.His66Tyr)
c.979-10124C>T (n.979-10124C>T)
c.457-10124C>T (n.457-10124C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.32000207A>CCA359340771PDZD2c.1190A>C (p.His397Pro)
n.946A>C
c.668A>C (p.His223Pro)
c.197A>C (p.His66Pro)
c.979-10123A>C (n.979-10123A>C)
c.457-10123A>C (n.457-10123A>C)
5g.32000207A>GCA359340773PDZD2c.1190A>G (p.His397Arg)
n.946A>G
c.668A>G (p.His223Arg)
c.197A>G (p.His66Arg)
c.979-10123A>G (n.979-10123A>G)
c.457-10123A>G (n.457-10123A>G)
5g.32000207A>TCA359340774PDZD2c.1190A>T (p.His397Leu)
n.946A>T
c.668A>T (p.His223Leu)
c.197A>T (p.His66Leu)
c.979-10123A>T (n.979-10123A>T)
c.457-10123A>T (n.457-10123A>T)
5g.32000208C>ACA359340777PDZD2c.1191C>A (p.His397Gln)
n.947C>A
c.669C>A (p.His223Gln)
c.198C>A (p.His66Gln)
c.979-10122C>A (n.979-10122C>A)
c.457-10122C>A (n.457-10122C>A)
5g.32000208C=CA1537300583PDZD2c.1191C= (p.His397=)
n.947C=
c.669C= (p.His223=)
c.198C= (p.His66=)
c.979-10122C= (n.979-10122C=)
c.457-10122C= (n.457-10122C=)
5g.32000208C>GCA359340779PDZD2c.1191C>G (p.His397Gln)
n.947C>G
c.669C>G (p.His223Gln)
c.198C>G (p.His66Gln)
c.979-10122C>G (n.979-10122C>G)
c.457-10122C>G (n.457-10122C>G)
5g.32000208C>TCA3218775PDZD2c.1191C>T (p.His397=)
n.947C>T
c.669C>T (p.His223=)
c.198C>T (p.His66=)
c.979-10122C>T (n.979-10122C>T)
c.457-10122C>T (n.457-10122C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.32000209G>ACA3218776PDZD2c.1192G>A (p.Glu398Lys)
n.948G>A
c.670G>A (p.Glu224Lys)
c.199G>A (p.Glu67Lys)
c.979-10121G>A (n.979-10121G>A)
c.457-10121G>A (n.457-10121G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.32000209G>CCA115832413PDZD2c.1192G>C (p.Glu398Gln)
n.948G>C
c.670G>C (p.Glu224Gln)
c.199G>C (p.Glu67Gln)
c.979-10121G>C (n.979-10121G>C)
c.457-10121G>C (n.457-10121G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.32000209G=CA1537300589PDZD2c.1192G= (p.Glu398=)
n.948G=
c.670G= (p.Glu224=)
c.199G= (p.Glu67=)
c.979-10121G= (n.979-10121G=)
c.457-10121G= (n.457-10121G=)
5g.32000209G>TCA359340783PDZD2c.1192G>T (p.Glu398Ter)
n.948G>T
c.670G>T (p.Glu224Ter)
c.199G>T (p.Glu67Ter)
c.979-10121G>T (n.979-10121G>T)
c.457-10121G>T (n.457-10121G>T)
5g.32000210A>CCA359340785PDZD2c.1193A>C (p.Glu398Ala)
n.949A>C
c.671A>C (p.Glu224Ala)
c.200A>C (p.Glu67Ala)
c.979-10120A>C (n.979-10120A>C)
c.457-10120A>C (n.457-10120A>C)
5g.32000210A>GCA359340787PDZD2c.1193A>G (p.Glu398Gly)
n.949A>G
c.671A>G (p.Glu224Gly)
c.200A>G (p.Glu67Gly)
c.979-10120A>G (n.979-10120A>G)
c.457-10120A>G (n.457-10120A>G)
5g.32000210A>TCA359340788PDZD2c.1193A>T (p.Glu398Val)
n.949A>T
c.671A>T (p.Glu224Val)
c.200A>T (p.Glu67Val)
c.979-10120A>T (n.979-10120A>T)
c.457-10120A>T (n.457-10120A>T)
5g.32000211G>ACA443642757PDZD2c.1194G>A (p.Glu398=)
n.950G>A
c.672G>A (p.Glu224=)
c.201G>A (p.Glu67=)
c.979-10119G>A (n.979-10119G>A)
c.457-10119G>A (n.457-10119G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.32000211G>CCA3218777PDZD2c.1194G>C (p.Glu398Asp)
n.950G>C
c.672G>C (p.Glu224Asp)
c.201G>C (p.Glu67Asp)
c.979-10119G>C (n.979-10119G>C)
c.457-10119G>C (n.457-10119G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.32000211G=CA1537300594PDZD2c.1194G= (p.Glu398=)
n.950G=
c.672G= (p.Glu224=)
c.201G= (p.Glu67=)
c.979-10119G= (n.979-10119G=)
c.457-10119G= (n.457-10119G=)
5g.32000211G>TCA359340791PDZD2c.1194G>T (p.Glu398Asp)
n.950G>T
c.672G>T (p.Glu224Asp)
c.201G>T (p.Glu67Asp)
c.979-10119G>T (n.979-10119G>T)
c.457-10119G>T (n.457-10119G>T)
5g.32000212G>ACA359340793PDZD2c.1195G>A (p.Glu399Lys)
n.951G>A
c.673G>A (p.Glu225Lys)
c.202G>A (p.Glu68Lys)
c.979-10118G>A (n.979-10118G>A)
c.457-10118G>A (n.457-10118G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.32000212G>CCA359340795PDZD2c.1195G>C (p.Glu399Gln)
n.951G>C
c.673G>C (p.Glu225Gln)
c.202G>C (p.Glu68Gln)
c.979-10118G>C (n.979-10118G>C)
c.457-10118G>C (n.457-10118G>C)
5g.32000212G=CA1537300600PDZD2c.1195G= (p.Glu399=)
n.951G=
c.673G= (p.Glu225=)
c.202G= (p.Glu68=)
c.979-10118G= (n.979-10118G=)
c.457-10118G= (n.457-10118G=)
5g.32000212G>TCA359340794PDZD2c.1195G>T (p.Glu399Ter)
n.951G>T
c.673G>T (p.Glu225Ter)
c.202G>T (p.Glu68Ter)
c.979-10118G>T (n.979-10118G>T)
c.457-10118G>T (n.457-10118G>T)

Number of alleles fetched