Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
5g.32000241G=CA1537300654PDZD2c.1224G= (p.Thr408=)
n.980G=
c.702G= (p.Thr234=)
c.231G= (p.Thr77=)
c.979-10089G= (n.979-10089G=)
c.457-10089G= (n.457-10089G=)
5g.32000241G>TCA443642809PDZD2c.1224G>T (p.Thr408=)
n.980G>T
c.702G>T (p.Thr234=)
c.231G>T (p.Thr77=)
c.979-10089G>T (n.979-10089G>T)
c.457-10089G>T (n.457-10089G>T)
5g.32000242G>ACA359340912PDZD2c.1225G>A (p.Gly409Arg)
n.981G>A
c.703G>A (p.Gly235Arg)
c.232G>A (p.Gly78Arg)
c.979-10088G>A (n.979-10088G>A)
c.457-10088G>A (n.457-10088G>A)
 COSMIC
5g.32000242G>CCA3218785PDZD2c.1225G>C (p.Gly409Arg)
n.981G>C
c.703G>C (p.Gly235Arg)
c.232G>C (p.Gly78Arg)
c.979-10088G>C (n.979-10088G>C)
c.457-10088G>C (n.457-10088G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.32000242G=CA1537300663PDZD2c.1225G= (p.Gly409=)
n.981G=
c.703G= (p.Gly235=)
c.232G= (p.Gly78=)
c.979-10088G= (n.979-10088G=)
c.457-10088G= (n.457-10088G=)
5g.32000242G>TCA359340914PDZD2c.1225G>T (p.Gly409Ter)
n.981G>T
c.703G>T (p.Gly235Ter)
c.232G>T (p.Gly78Ter)
c.979-10088G>T (n.979-10088G>T)
c.457-10088G>T (n.457-10088G>T)
5g.32000243G>ACA359340916PDZD2c.1226G>A (p.Gly409Glu)
n.982G>A
c.704G>A (p.Gly235Glu)
c.233G>A (p.Gly78Glu)
c.979-10087G>A (n.979-10087G>A)
c.457-10087G>A (n.457-10087G>A)
5g.32000243G>CCA359340918PDZD2c.1226G>C (p.Gly409Ala)
n.982G>C
c.704G>C (p.Gly235Ala)
c.233G>C (p.Gly78Ala)
c.979-10087G>C (n.979-10087G>C)
c.457-10087G>C (n.457-10087G>C)
5g.32000243G>TCA359340920PDZD2c.1226G>T (p.Gly409Val)
n.982G>T
c.704G>T (p.Gly235Val)
c.233G>T (p.Gly78Val)
c.979-10087G>T (n.979-10087G>T)
c.457-10087G>T (n.457-10087G>T)
5g.32000244A>CCA443642812PDZD2c.1227A>C (p.Gly409=)
n.983A>C
c.705A>C (p.Gly235=)
c.234A>C (p.Gly78=)
c.979-10086A>C (n.979-10086A>C)
c.457-10086A>C (n.457-10086A>C)
5g.32000244A>GCA443642813PDZD2c.1227A>G (p.Gly409=)
n.983A>G
c.705A>G (p.Gly235=)
c.234A>G (p.Gly78=)
c.979-10086A>G (n.979-10086A>G)
c.457-10086A>G (n.457-10086A>G)
5g.32000244A>TCA443642814PDZD2c.1227A>T (p.Gly409=)
n.983A>T
c.705A>T (p.Gly235=)
c.234A>T (p.Gly78=)
c.979-10086A>T (n.979-10086A>T)
c.457-10086A>T (n.457-10086A>T)
5g.32000245A=CA1537300669PDZD2c.1228A= (p.Met410=)
n.984A=
c.706A= (p.Met236=)
c.235A= (p.Met79=)
c.979-10085A= (n.979-10085A=)
c.457-10085A= (n.457-10085A=)
5g.32000245A>CCA3218786PDZD2c.1228A>C (p.Met410Leu)
n.984A>C
c.706A>C (p.Met236Leu)
c.235A>C (p.Met79Leu)
c.979-10085A>C (n.979-10085A>C)
c.457-10085A>C (n.457-10085A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.32000245A>GCA359340923PDZD2c.1228A>G (p.Met410Val)
n.984A>G
c.706A>G (p.Met236Val)
c.235A>G (p.Met79Val)
c.979-10085A>G (n.979-10085A>G)
c.457-10085A>G (n.457-10085A>G)
5g.32000245A>TCA359340924PDZD2c.1228A>T (p.Met410Leu)
n.984A>T
c.706A>T (p.Met236Leu)
c.235A>T (p.Met79Leu)
c.979-10085A>T (n.979-10085A>T)
c.457-10085A>T (n.457-10085A>T)
5g.32000246T>ACA359340927PDZD2c.1229T>A (p.Met410Lys)
n.985T>A
c.707T>A (p.Met236Lys)
c.236T>A (p.Met79Lys)
c.979-10084T>A (n.979-10084T>A)
c.457-10084T>A (n.457-10084T>A)
5g.32000246T>CCA359340929PDZD2c.1229T>C (p.Met410Thr)
n.985T>C
c.707T>C (p.Met236Thr)
c.236T>C (p.Met79Thr)
c.979-10084T>C (n.979-10084T>C)
c.457-10084T>C (n.457-10084T>C)
 ClinVar dbSNP gnomAD v4
5g.32000246T>GCA359340930PDZD2c.1229T>G (p.Met410Arg)
n.985T>G
c.707T>G (p.Met236Arg)
c.236T>G (p.Met79Arg)
c.979-10084T>G (n.979-10084T>G)
c.457-10084T>G (n.457-10084T>G)
5g.32000246T=CA1537300676PDZD2c.1229T= (p.Met410=)
n.985T=
c.707T= (p.Met236=)
c.236T= (p.Met79=)
c.979-10084T= (n.979-10084T=)
c.457-10084T= (n.457-10084T=)
5g.32000247G>ACA359340935PDZD2c.1230G>A (p.Met410Ile)
n.986G>A
c.708G>A (p.Met236Ile)
c.237G>A (p.Met79Ile)
c.979-10083G>A (n.979-10083G>A)
c.457-10083G>A (n.457-10083G>A)
5g.32000247G>CCA359340936PDZD2c.1230G>C (p.Met410Ile)
n.986G>C
c.708G>C (p.Met236Ile)
c.237G>C (p.Met79Ile)
c.979-10083G>C (n.979-10083G>C)
c.457-10083G>C (n.457-10083G>C)
5g.32000247G>TCA359340933PDZD2c.1230G>T (p.Met410Ile)
n.986G>T
c.708G>T (p.Met236Ile)
c.237G>T (p.Met79Ile)
c.979-10083G>T (n.979-10083G>T)
c.457-10083G>T (n.457-10083G>T)
5g.32000248G>ACA359340941PDZD2c.1231G>A (p.Val411Met)
n.987G>A
c.709G>A (p.Val237Met)
c.238G>A (p.Val80Met)
c.979-10082G>A (n.979-10082G>A)
c.457-10082G>A (n.457-10082G>A)
5g.32000248G>CCA359340939PDZD2c.1231G>C (p.Val411Leu)
n.987G>C
c.709G>C (p.Val237Leu)
c.238G>C (p.Val80Leu)
c.979-10082G>C (n.979-10082G>C)
c.457-10082G>C (n.457-10082G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.32000248G=CA1537300680PDZD2c.1231G= (p.Val411=)
n.987G=
c.709G= (p.Val237=)
c.238G= (p.Val80=)
c.979-10082G= (n.979-10082G=)
c.457-10082G= (n.457-10082G=)
5g.32000248G>TCA359340940PDZD2c.1231G>T (p.Val411Leu)
n.987G>T
c.709G>T (p.Val237Leu)
c.238G>T (p.Val80Leu)
c.979-10082G>T (n.979-10082G>T)
c.457-10082G>T (n.457-10082G>T)
5g.32000249T>ACA359340943PDZD2c.1232T>A (p.Val411Glu)
n.988T>A
c.710T>A (p.Val237Glu)
c.239T>A (p.Val80Glu)
c.979-10081T>A (n.979-10081T>A)
c.457-10081T>A (n.457-10081T>A)
5g.32000249T>CCA359340945PDZD2c.1232T>C (p.Val411Ala)
n.988T>C
c.710T>C (p.Val237Ala)
c.239T>C (p.Val80Ala)
c.979-10081T>C (n.979-10081T>C)
c.457-10081T>C (n.457-10081T>C)
5g.32000249T>GCA359340947PDZD2c.1232T>G (p.Val411Gly)
n.988T>G
c.710T>G (p.Val237Gly)
c.239T>G (p.Val80Gly)
c.979-10081T>G (n.979-10081T>G)
c.457-10081T>G (n.457-10081T>G)
5g.32000250G>ACA443642823PDZD2c.1233G>A (p.Val411=)
n.989G>A
c.711G>A (p.Val237=)
c.240G>A (p.Val80=)
c.979-10080G>A (n.979-10080G>A)
c.457-10080G>A (n.457-10080G>A)
5g.32000250G>CCA443642825PDZD2c.1233G>C (p.Val411=)
n.989G>C
c.711G>C (p.Val237=)
c.240G>C (p.Val80=)
c.979-10080G>C (n.979-10080G>C)
c.457-10080G>C (n.457-10080G>C)
5g.32000250G>TCA443642826PDZD2c.1233G>T (p.Val411=)
n.989G>T
c.711G>T (p.Val237=)
c.240G>T (p.Val80=)
c.979-10080G>T (n.979-10080G>T)
c.457-10080G>T (n.457-10080G>T)
5g.32000251C>ACA359340949PDZD2c.1234C>A (p.Gln412Lys)
n.990C>A
c.712C>A (p.Gln238Lys)
c.241C>A (p.Gln81Lys)
c.979-10079C>A (n.979-10079C>A)
c.457-10079C>A (n.457-10079C>A)
5g.32000251C>GCA359340951PDZD2c.1234C>G (p.Gln412Glu)
n.990C>G
c.712C>G (p.Gln238Glu)
c.241C>G (p.Gln81Glu)
c.979-10079C>G (n.979-10079C>G)
c.457-10079C>G (n.457-10079C>G)
5g.32000251C>TCA359340952PDZD2c.1234C>T (p.Gln412Ter)
n.990C>T
c.712C>T (p.Gln238Ter)
c.241C>T (p.Gln81Ter)
c.979-10079C>T (n.979-10079C>T)
c.457-10079C>T (n.457-10079C>T)
 COSMIC
5g.32000252A=CA1537300683PDZD2c.1235A= (p.Gln412=)
n.991A=
c.713A= (p.Gln238=)
c.242A= (p.Gln81=)
c.979-10078A= (n.979-10078A=)
c.457-10078A= (n.457-10078A=)
5g.32000252A>CCA359340955PDZD2c.1235A>C (p.Gln412Pro)
n.991A>C
c.713A>C (p.Gln238Pro)
c.242A>C (p.Gln81Pro)
c.979-10078A>C (n.979-10078A>C)
c.457-10078A>C (n.457-10078A>C)

Number of alleles fetched