Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.32000227C>ACA359340858PDZD2c.1210C>A (p.Leu404Ile)
n.966C>A
c.688C>A (p.Leu230Ile)
c.217C>A (p.Leu73Ile)
c.979-10103C>A (n.979-10103C>A)
c.457-10103C>A (n.457-10103C>A)
5g.32000227C>GCA359340855PDZD2c.1210C>G (p.Leu404Val)
n.966C>G
c.688C>G (p.Leu230Val)
c.217C>G (p.Leu73Val)
c.979-10103C>G (n.979-10103C>G)
c.457-10103C>G (n.457-10103C>G)
 gnomAD v4
5g.32000227C>TCA359340857PDZD2c.1210C>T (p.Leu404Phe)
n.966C>T
c.688C>T (p.Leu230Phe)
c.217C>T (p.Leu73Phe)
c.979-10103C>T (n.979-10103C>T)
c.457-10103C>T (n.457-10103C>T)
5g.32000228T>ACA359340861PDZD2c.1211T>A (p.Leu404His)
n.967T>A
c.689T>A (p.Leu230His)
c.218T>A (p.Leu73His)
c.979-10102T>A (n.979-10102T>A)
c.457-10102T>A (n.457-10102T>A)
5g.32000228T>CCA359340863PDZD2c.1211T>C (p.Leu404Pro)
n.967T>C
c.689T>C (p.Leu230Pro)
c.218T>C (p.Leu73Pro)
c.979-10102T>C (n.979-10102T>C)
c.457-10102T>C (n.457-10102T>C)
5g.32000228T>GCA359340864PDZD2c.1211T>G (p.Leu404Arg)
n.967T>G
c.689T>G (p.Leu230Arg)
c.218T>G (p.Leu73Arg)
c.979-10102T>G (n.979-10102T>G)
c.457-10102T>G (n.457-10102T>G)
5g.32000229T>ACA443642789PDZD2c.1212T>A (p.Leu404=)
n.968T>A
c.690T>A (p.Leu230=)
c.219T>A (p.Leu73=)
c.979-10101T>A (n.979-10101T>A)
c.457-10101T>A (n.457-10101T>A)
5g.32000229T>CCA443642790PDZD2c.1212T>C (p.Leu404=)
n.968T>C
c.690T>C (p.Leu230=)
c.219T>C (p.Leu73=)
c.979-10101T>C (n.979-10101T>C)
c.457-10101T>C (n.457-10101T>C)
5g.32000229T>GCA443642791PDZD2c.1212T>G (p.Leu404=)
n.968T>G
c.690T>G (p.Leu230=)
c.219T>G (p.Leu73=)
c.979-10101T>G (n.979-10101T>G)
c.457-10101T>G (n.457-10101T>G)
5g.32000230C>ACA359340867PDZD2c.1213C>A (p.Arg405Ser)
n.969C>A
c.691C>A (p.Arg231Ser)
c.220C>A (p.Arg74Ser)
c.979-10100C>A (n.979-10100C>A)
c.457-10100C>A (n.457-10100C>A)
5g.32000230C=CA1537300632PDZD2c.1213C= (p.Arg405=)
n.969C=
c.691C= (p.Arg231=)
c.220C= (p.Arg74=)
c.979-10100C= (n.979-10100C=)
c.457-10100C= (n.457-10100C=)
5g.32000230C>GCA359340868PDZD2c.1213C>G (p.Arg405Gly)
n.969C>G
c.691C>G (p.Arg231Gly)
c.220C>G (p.Arg74Gly)
c.979-10100C>G (n.979-10100C>G)
c.457-10100C>G (n.457-10100C>G)
 gnomAD v4
5g.32000230C>TCA359340870PDZD2c.1213C>T (p.Arg405Cys)
n.969C>T
c.691C>T (p.Arg231Cys)
c.220C>T (p.Arg74Cys)
c.979-10100C>T (n.979-10100C>T)
c.457-10100C>T (n.457-10100C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.32000231G>ACA3218780PDZD2c.1214G>A (p.Arg405His)
n.970G>A
c.692G>A (p.Arg231His)
c.221G>A (p.Arg74His)
c.979-10099G>A (n.979-10099G>A)
c.457-10099G>A (n.457-10099G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.32000231G>CCA359340873PDZD2c.1214G>C (p.Arg405Pro)
n.970G>C
c.692G>C (p.Arg231Pro)
c.221G>C (p.Arg74Pro)
c.979-10099G>C (n.979-10099G>C)
c.457-10099G>C (n.457-10099G>C)
 dbSNP
5g.32000231G=CA1537300637PDZD2c.1214G= (p.Arg405=)
n.970G=
c.692G= (p.Arg231=)
c.221G= (p.Arg74=)
c.979-10099G= (n.979-10099G=)
c.457-10099G= (n.457-10099G=)
5g.32000231G>TCA359340875PDZD2c.1214G>T (p.Arg405Leu)
n.970G>T
c.692G>T (p.Arg231Leu)
c.221G>T (p.Arg74Leu)
c.979-10099G>T (n.979-10099G>T)
c.457-10099G>T (n.457-10099G>T)
5g.32000232C>ACA443642795PDZD2c.1215C>A (p.Arg405=)
n.971C>A
c.693C>A (p.Arg231=)
c.222C>A (p.Arg74=)
c.979-10098C>A (n.979-10098C>A)
c.457-10098C>A (n.457-10098C>A)
 dbSNP
5g.32000232C=CA1537300641PDZD2c.1215C= (p.Arg405=)
n.971C=
c.693C= (p.Arg231=)
c.222C= (p.Arg74=)
c.979-10098C= (n.979-10098C=)
c.457-10098C= (n.457-10098C=)
5g.32000232C>GCA443642796PDZD2c.1215C>G (p.Arg405=)
n.971C>G
c.693C>G (p.Arg231=)
c.222C>G (p.Arg74=)
c.979-10098C>G (n.979-10098C>G)
c.457-10098C>G (n.457-10098C>G)
5g.32000232C>TCA443642798PDZD2c.1215C>T (p.Arg405=)
n.971C>T
c.693C>T (p.Arg231=)
c.222C>T (p.Arg74=)
c.979-10098C>T (n.979-10098C>T)
c.457-10098C>T (n.457-10098C>T)
5g.32000233T>ACA359340877PDZD2c.1216T>A (p.Ser406Thr)
n.972T>A
c.694T>A (p.Ser232Thr)
c.223T>A (p.Ser75Thr)
c.979-10097T>A (n.979-10097T>A)
c.457-10097T>A (n.457-10097T>A)
5g.32000233T>CCA359340879PDZD2c.1216T>C (p.Ser406Pro)
n.972T>C
c.694T>C (p.Ser232Pro)
c.223T>C (p.Ser75Pro)
c.979-10097T>C (n.979-10097T>C)
c.457-10097T>C (n.457-10097T>C)
5g.32000233T>GCA359340880PDZD2c.1216T>G (p.Ser406Ala)
n.972T>G
c.694T>G (p.Ser232Ala)
c.223T>G (p.Ser75Ala)
c.979-10097T>G (n.979-10097T>G)
c.457-10097T>G (n.457-10097T>G)
5g.32000234C>ACA359340883PDZD2c.1217C>A (p.Ser406Tyr)
n.973C>A
c.695C>A (p.Ser232Tyr)
c.224C>A (p.Ser75Tyr)
c.979-10096C>A (n.979-10096C>A)
c.457-10096C>A (n.457-10096C>A)
5g.32000234C>GCA359340886PDZD2c.1217C>G (p.Ser406Cys)
n.973C>G
c.695C>G (p.Ser232Cys)
c.224C>G (p.Ser75Cys)
c.979-10096C>G (n.979-10096C>G)
c.457-10096C>G (n.457-10096C>G)
5g.32000234C>TCA359340884PDZD2c.1217C>T (p.Ser406Phe)
n.973C>T
c.695C>T (p.Ser232Phe)
c.224C>T (p.Ser75Phe)
c.979-10096C>T (n.979-10096C>T)
c.457-10096C>T (n.457-10096C>T)
5g.32000235C>ACA443642803PDZD2c.1218C>A (p.Ser406=)
n.974C>A
c.696C>A (p.Ser232=)
c.225C>A (p.Ser75=)
c.979-10095C>A (n.979-10095C>A)
c.457-10095C>A (n.457-10095C>A)
5g.32000235C=CA1537300642PDZD2c.1218C= (p.Ser406=)
n.974C=
c.696C= (p.Ser232=)
c.225C= (p.Ser75=)
c.979-10095C= (n.979-10095C=)
c.457-10095C= (n.457-10095C=)
5g.32000235C>GCA443642802PDZD2c.1218C>G (p.Ser406=)
n.974C>G
c.696C>G (p.Ser232=)
c.225C>G (p.Ser75=)
c.979-10095C>G (n.979-10095C>G)
c.457-10095C>G (n.457-10095C>G)
5g.32000235C>TCA3218781PDZD2c.1218C>T (p.Ser406=)
n.974C>T
c.696C>T (p.Ser232=)
c.225C>T (p.Ser75=)
c.979-10095C>T (n.979-10095C>T)
c.457-10095C>T (n.457-10095C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.32000236G>ACA3218782PDZD2c.1219G>A (p.Ala407Thr)
n.975G>A
c.697G>A (p.Ala233Thr)
c.226G>A (p.Ala76Thr)
c.979-10094G>A (n.979-10094G>A)
c.457-10094G>A (n.457-10094G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.32000236G>CCA359340890PDZD2c.1219G>C (p.Ala407Pro)
n.975G>C
c.697G>C (p.Ala233Pro)
c.226G>C (p.Ala76Pro)
c.979-10094G>C (n.979-10094G>C)
c.457-10094G>C (n.457-10094G>C)
5g.32000236G=CA1537300645PDZD2c.1219G= (p.Ala407=)
n.975G=
c.697G= (p.Ala233=)
c.226G= (p.Ala76=)
c.979-10094G= (n.979-10094G=)
c.457-10094G= (n.457-10094G=)
5g.32000236G>TCA359340892PDZD2c.1219G>T (p.Ala407Ser)
n.975G>T
c.697G>T (p.Ala233Ser)
c.226G>T (p.Ala76Ser)
c.979-10094G>T (n.979-10094G>T)
c.457-10094G>T (n.457-10094G>T)
 dbSNP gnomAD v2 gnomAD v4
5g.32000237C>ACA359340894PDZD2c.1220C>A (p.Ala407Asp)
n.976C>A
c.698C>A (p.Ala233Asp)
c.227C>A (p.Ala76Asp)
c.979-10093C>A (n.979-10093C>A)
c.457-10093C>A (n.457-10093C>A)
5g.32000237C>GCA359340896PDZD2c.1220C>G (p.Ala407Gly)
n.976C>G
c.698C>G (p.Ala233Gly)
c.227C>G (p.Ala76Gly)
c.979-10093C>G (n.979-10093C>G)
c.457-10093C>G (n.457-10093C>G)
5g.32000237C>TCA359340898PDZD2c.1220C>T (p.Ala407Val)
n.976C>T
c.698C>T (p.Ala233Val)
c.227C>T (p.Ala76Val)
c.979-10093C>T (n.979-10093C>T)
c.457-10093C>T (n.457-10093C>T)
5g.32000238C>ACA443642804PDZD2c.1221C>A (p.Ala407=)
n.977C>A
c.699C>A (p.Ala233=)
c.228C>A (p.Ala76=)
c.979-10092C>A (n.979-10092C>A)
c.457-10092C>A (n.457-10092C>A)
 gnomAD v4
5g.32000238C>GCA443642805PDZD2c.1221C>G (p.Ala407=)
n.977C>G
c.699C>G (p.Ala233=)
c.228C>G (p.Ala76=)
c.979-10092C>G (n.979-10092C>G)
c.457-10092C>G (n.457-10092C>G)
5g.32000238C>TCA443642806PDZD2c.1221C>T (p.Ala407=)
n.977C>T
c.699C>T (p.Ala233=)
c.228C>T (p.Ala76=)
c.979-10092C>T (n.979-10092C>T)
c.457-10092C>T (n.457-10092C>T)
5g.32000239A>CCA359340900PDZD2c.1222A>C (p.Thr408Pro)
n.978A>C
c.700A>C (p.Thr234Pro)
c.229A>C (p.Thr77Pro)
c.979-10091A>C (n.979-10091A>C)
c.457-10091A>C (n.457-10091A>C)
5g.32000239A>GCA359340902PDZD2c.1222A>G (p.Thr408Ala)
n.978A>G
c.700A>G (p.Thr234Ala)
c.229A>G (p.Thr77Ala)
c.979-10091A>G (n.979-10091A>G)
c.457-10091A>G (n.457-10091A>G)
5g.32000239A>TCA359340904PDZD2c.1222A>T (p.Thr408Ser)
n.978A>T
c.700A>T (p.Thr234Ser)
c.229A>T (p.Thr77Ser)
c.979-10091A>T (n.979-10091A>T)
c.457-10091A>T (n.457-10091A>T)
5g.32000240C>ACA359340906PDZD2c.1223C>A (p.Thr408Lys)
n.979C>A
c.701C>A (p.Thr234Lys)
c.230C>A (p.Thr77Lys)
c.979-10090C>A (n.979-10090C>A)
c.457-10090C>A (n.457-10090C>A)
 dbSNP gnomAD v2 gnomAD v4
5g.32000240C=CA1537300651PDZD2c.1223C= (p.Thr408=)
n.979C=
c.701C= (p.Thr234=)
c.230C= (p.Thr77=)
c.979-10090C= (n.979-10090C=)
c.457-10090C= (n.457-10090C=)
5g.32000240C>GCA359340908PDZD2c.1223C>G (p.Thr408Arg)
n.979C>G
c.701C>G (p.Thr234Arg)
c.230C>G (p.Thr77Arg)
c.979-10090C>G (n.979-10090C>G)
c.457-10090C>G (n.457-10090C>G)
 gnomAD v4
5g.32000240C>TCA3218783PDZD2c.1223C>T (p.Thr408Met)
n.979C>T
c.701C>T (p.Thr234Met)
c.230C>T (p.Thr77Met)
c.979-10090C>T (n.979-10090C>T)
c.457-10090C>T (n.457-10090C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.32000241G>ACA3218784PDZD2c.1224G>A (p.Thr408=)
n.980G>A
c.702G>A (p.Thr234=)
c.231G>A (p.Thr77=)
c.979-10089G>A (n.979-10089G>A)
c.457-10089G>A (n.457-10089G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.32000241G>CCA443642807PDZD2c.1224G>C (p.Thr408=)
n.980G>C
c.702G>C (p.Thr234=)
c.231G>C (p.Thr77=)
c.979-10089G>C (n.979-10089G>C)
c.457-10089G>C (n.457-10089G>C)
 gnomAD v4

Number of alleles fetched