Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.32000191C>ACA359340709PDZD2c.1174C>A (p.Leu392Met)
n.930C>A
c.652C>A (p.Leu218Met)
c.181C>A (p.Leu61Met)
c.979-10139C>A (n.979-10139C>A)
c.457-10139C>A (n.457-10139C>A)
5g.32000191C=CA1537300547PDZD2c.1174C= (p.Leu392=)
n.930C=
c.652C= (p.Leu218=)
c.181C= (p.Leu61=)
c.979-10139C= (n.979-10139C=)
c.457-10139C= (n.457-10139C=)
5g.32000191C>GCA359340708PDZD2c.1174C>G (p.Leu392Val)
n.930C>G
c.652C>G (p.Leu218Val)
c.181C>G (p.Leu61Val)
c.979-10139C>G (n.979-10139C>G)
c.457-10139C>G (n.457-10139C>G)
5g.32000191C>TCA443642732PDZD2c.1174C>T (p.Leu392=)
n.930C>T
c.652C>T (p.Leu218=)
c.181C>T (p.Leu61=)
c.979-10139C>T (n.979-10139C>T)
c.457-10139C>T (n.457-10139C>T)
 dbSNP gnomAD v4
5g.32000192T>ACA359340712PDZD2c.1175T>A (p.Leu392Gln)
n.931T>A
c.653T>A (p.Leu218Gln)
c.182T>A (p.Leu61Gln)
c.979-10138T>A (n.979-10138T>A)
c.457-10138T>A (n.457-10138T>A)
5g.32000192T>CCA359340713PDZD2c.1175T>C (p.Leu392Pro)
n.931T>C
c.653T>C (p.Leu218Pro)
c.182T>C (p.Leu61Pro)
c.979-10138T>C (n.979-10138T>C)
c.457-10138T>C (n.457-10138T>C)
5g.32000192T>GCA359340715PDZD2c.1175T>G (p.Leu392Arg)
n.931T>G
c.653T>G (p.Leu218Arg)
c.182T>G (p.Leu61Arg)
c.979-10138T>G (n.979-10138T>G)
c.457-10138T>G (n.457-10138T>G)
5g.32000193G>ACA443642736PDZD2c.1176G>A (p.Leu392=)
n.932G>A
c.654G>A (p.Leu218=)
c.183G>A (p.Leu61=)
c.979-10137G>A (n.979-10137G>A)
c.457-10137G>A (n.457-10137G>A)
 gnomAD v4
5g.32000193G>CCA443642734PDZD2c.1176G>C (p.Leu392=)
n.932G>C
c.654G>C (p.Leu218=)
c.183G>C (p.Leu61=)
c.979-10137G>C (n.979-10137G>C)
c.457-10137G>C (n.457-10137G>C)
5g.32000193G>TCA443642735PDZD2c.1176G>T (p.Leu392=)
n.932G>T
c.654G>T (p.Leu218=)
c.183G>T (p.Leu61=)
c.979-10137G>T (n.979-10137G>T)
c.457-10137G>T (n.457-10137G>T)
5g.32000194G>ACA359340717PDZD2c.1177G>A (p.Val393Ile)
n.933G>A
c.655G>A (p.Val219Ile)
c.184G>A (p.Val62Ile)
c.979-10136G>A (n.979-10136G>A)
c.457-10136G>A (n.457-10136G>A)
 gnomAD v4 COSMIC
5g.32000194G>CCA359340719PDZD2c.1177G>C (p.Val393Leu)
n.933G>C
c.655G>C (p.Val219Leu)
c.184G>C (p.Val62Leu)
c.979-10136G>C (n.979-10136G>C)
c.457-10136G>C (n.457-10136G>C)
5g.32000194G=CA1537300549PDZD2c.1177G= (p.Val393=)
n.933G=
c.655G= (p.Val219=)
c.184G= (p.Val62=)
c.979-10136G= (n.979-10136G=)
c.457-10136G= (n.457-10136G=)
5g.32000194G>TCA359340721PDZD2c.1177G>T (p.Val393Phe)
n.933G>T
c.655G>T (p.Val219Phe)
c.184G>T (p.Val62Phe)
c.979-10136G>T (n.979-10136G>T)
c.457-10136G>T (n.457-10136G>T)
 dbSNP
5g.32000195T>ACA359340726PDZD2c.1178T>A (p.Val393Asp)
n.934T>A
c.656T>A (p.Val219Asp)
c.185T>A (p.Val62Asp)
c.979-10135T>A (n.979-10135T>A)
c.457-10135T>A (n.457-10135T>A)
5g.32000195T>CCA359340723PDZD2c.1178T>C (p.Val393Ala)
n.934T>C
c.656T>C (p.Val219Ala)
c.185T>C (p.Val62Ala)
c.979-10135T>C (n.979-10135T>C)
c.457-10135T>C (n.457-10135T>C)
5g.32000195T>GCA359340725PDZD2c.1178T>G (p.Val393Gly)
n.934T>G
c.656T>G (p.Val219Gly)
c.185T>G (p.Val62Gly)
c.979-10135T>G (n.979-10135T>G)
c.457-10135T>G (n.457-10135T>G)
5g.32000196C>ACA443642739PDZD2c.1179C>A (p.Val393=)
n.935C>A
c.657C>A (p.Val219=)
c.186C>A (p.Val62=)
c.979-10134C>A (n.979-10134C>A)
c.457-10134C>A (n.457-10134C>A)
 gnomAD v4
5g.32000196C=CA1537300555PDZD2c.1179C= (p.Val393=)
n.935C=
c.657C= (p.Val219=)
c.186C= (p.Val62=)
c.979-10134C= (n.979-10134C=)
c.457-10134C= (n.457-10134C=)
5g.32000196C>GCA3218772PDZD2c.1179C>G (p.Val393=)
n.935C>G
c.657C>G (p.Val219=)
c.186C>G (p.Val62=)
c.979-10134C>G (n.979-10134C>G)
c.457-10134C>G (n.457-10134C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.32000196C>TCA3218773PDZD2c.1179C>T (p.Val393=)
n.935C>T
c.657C>T (p.Val219=)
c.186C>T (p.Val62=)
c.979-10134C>T (n.979-10134C>T)
c.457-10134C>T (n.457-10134C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.32000197G>ACA3218774PDZD2c.1180G>A (p.Gly394Arg)
n.936G>A
c.658G>A (p.Gly220Arg)
c.187G>A (p.Gly63Arg)
c.979-10133G>A (n.979-10133G>A)
c.457-10133G>A (n.457-10133G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.32000197G>CCA359340732PDZD2c.1180G>C (p.Gly394Arg)
n.936G>C
c.658G>C (p.Gly220Arg)
c.187G>C (p.Gly63Arg)
c.979-10133G>C (n.979-10133G>C)
c.457-10133G>C (n.457-10133G>C)
5g.32000197G=CA1537300562PDZD2c.1180G= (p.Gly394=)
n.936G=
c.658G= (p.Gly220=)
c.187G= (p.Gly63=)
c.979-10133G= (n.979-10133G=)
c.457-10133G= (n.457-10133G=)
5g.32000197G>TCA359340734PDZD2c.1180G>T (p.Gly394Trp)
n.936G>T
c.658G>T (p.Gly220Trp)
c.187G>T (p.Gly63Trp)
c.979-10133G>T (n.979-10133G>T)
c.457-10133G>T (n.457-10133G>T)
 gnomAD v4
5g.32000198G>ACA359340736PDZD2c.1181G>A (p.Gly394Glu)
n.937G>A
c.659G>A (p.Gly220Glu)
c.188G>A (p.Gly63Glu)
c.979-10132G>A (n.979-10132G>A)
c.457-10132G>A (n.457-10132G>A)
5g.32000198G>CCA359340740PDZD2c.1181G>C (p.Gly394Ala)
n.937G>C
c.659G>C (p.Gly220Ala)
c.188G>C (p.Gly63Ala)
c.979-10132G>C (n.979-10132G>C)
c.457-10132G>C (n.457-10132G>C)
5g.32000198G>TCA359340738PDZD2c.1181G>T (p.Gly394Val)
n.937G>T
c.659G>T (p.Gly220Val)
c.188G>T (p.Gly63Val)
c.979-10132G>T (n.979-10132G>T)
c.457-10132G>T (n.457-10132G>T)
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)

Number of alleles fetched