| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.32000203T>A | CA115832405 | PDZD2 | c.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 |
| 5 | g.32000203T>C | CA359340755 | PDZD2 | c.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) | |
| 5 | g.32000203T>G | CA359340757 | PDZD2 | c.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) | |
| 5 | g.32000203T= | CA1537300577 | PDZD2 | c.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=) | |
| 5 | g.32000204C>A | CA359340759 | PDZD2 | c.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) | |
| 5 | g.32000204C>G | CA359340761 | PDZD2 | c.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) | |
| 5 | g.32000204C>T | CA359340762 | PDZD2 | c.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 |
| 5 | g.32000205C>A | CA443642747 | PDZD2 | c.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) | |
| 5 | g.32000205C>G | CA443642748 | PDZD2 | c.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) | |
| 5 | g.32000205C>T | CA443642749 | PDZD2 | c.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) | |
| 5 | g.32000206C>A | CA359340765 | PDZD2 | c.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) | |
| 5 | g.32000206C= | CA1537300580 | PDZD2 | c.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=) | |
| 5 | g.32000206C>G | CA359340768 | PDZD2 | c.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) | |
| 5 | g.32000206C>T | CA359340767 | PDZD2 | c.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 |
| 5 | g.32000207A>C | CA359340771 | PDZD2 | c.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) | |
| 5 | g.32000207A>G | CA359340773 | PDZD2 | c.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) | |
| 5 | g.32000207A>T | CA359340774 | PDZD2 | c.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) | |
| 5 | g.32000208C>A | CA359340777 | PDZD2 | c.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) | |
| 5 | g.32000208C= | CA1537300583 | PDZD2 | c.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=) | |
| 5 | g.32000208C>G | CA359340779 | PDZD2 | c.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) | |
| 5 | g.32000208C>T | CA3218775 | PDZD2 | c.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 |
| 5 | g.32000209G>A | CA3218776 | PDZD2 | c.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 |
| 5 | g.32000209G>C | CA115832413 | PDZD2 | c.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 |
| 5 | g.32000209G= | CA1537300589 | PDZD2 | c.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=) | |
| 5 | g.32000209G>T | CA359340783 | PDZD2 | c.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) | |
| 5 | g.32000210A>C | CA359340785 | PDZD2 | c.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) | |
| 5 | g.32000210A>G | CA359340787 | PDZD2 | c.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) | |
| 5 | g.32000210A>T | CA359340788 | PDZD2 | c.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) | |
| 5 | g.32000211G>A | CA443642757 | PDZD2 | c.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 |
| 5 | g.32000211G>C | CA3218777 | PDZD2 | c.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 |
| 5 | g.32000211G= | CA1537300594 | PDZD2 | c.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=) | |
| 5 | g.32000211G>T | CA359340791 | PDZD2 | c.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) | |
| 5 | g.32000212G>A | CA359340793 | PDZD2 | c.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 |
| 5 | g.32000212G>C | CA359340795 | PDZD2 | c.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) | |
| 5 | g.32000212G= | CA1537300600 | PDZD2 | c.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=) | |
| 5 | g.32000212G>T | CA359340794 | PDZD2 | c.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) | |
| 5 | g.32000213A>C | CA359340797 | PDZD2 | c.1196A>C (p.Glu399Ala) n.952A>C c.674A>C (p.Glu225Ala) c.203A>C (p.Glu68Ala) c.979-10117A>C (n.979-10117A>C) c.457-10117A>C (n.457-10117A>C) | |
| 5 | g.32000213A>G | CA359340799 | PDZD2 | c.1196A>G (p.Glu399Gly) n.952A>G c.674A>G (p.Glu225Gly) c.203A>G (p.Glu68Gly) c.979-10117A>G (n.979-10117A>G) c.457-10117A>G (n.457-10117A>G) | |
| 5 | g.32000213A>T | CA359340801 | PDZD2 | c.1196A>T (p.Glu399Val) n.952A>T c.674A>T (p.Glu225Val) c.203A>T (p.Glu68Val) c.979-10117A>T (n.979-10117A>T) c.457-10117A>T (n.457-10117A>T) | |
| 5 | g.32000214A>C | CA359340803 | PDZD2 | c.1197A>C (p.Glu399Asp) n.953A>C c.675A>C (p.Glu225Asp) c.204A>C (p.Glu68Asp) c.979-10116A>C (n.979-10116A>C) c.457-10116A>C (n.457-10116A>C) | |
| 5 | g.32000214A>G | CA443642760 | PDZD2 | c.1197A>G (p.Glu399=) n.953A>G c.675A>G (p.Glu225=) c.204A>G (p.Glu68=) c.979-10116A>G (n.979-10116A>G) c.457-10116A>G (n.457-10116A>G) | |
| 5 | g.32000214A>T | CA359340805 | PDZD2 | c.1197A>T (p.Glu399Asp) n.953A>T c.675A>T (p.Glu225Asp) c.204A>T (p.Glu68Asp) c.979-10116A>T (n.979-10116A>T) c.457-10116A>T (n.457-10116A>T) | |
| 5 | g.32000215G>A | CA359340807 | PDZD2 | c.1198G>A (p.Ala400Thr) n.954G>A c.676G>A (p.Ala226Thr) c.205G>A (p.Ala69Thr) c.979-10115G>A (n.979-10115G>A) c.457-10115G>A (n.457-10115G>A) | gnomAD v4 |
| 5 | g.32000215G>C | CA359340809 | PDZD2 | c.1198G>C (p.Ala400Pro) n.954G>C c.676G>C (p.Ala226Pro) c.205G>C (p.Ala69Pro) c.979-10115G>C (n.979-10115G>C) c.457-10115G>C (n.457-10115G>C) | |
| 5 | g.32000215G>T | CA359340811 | PDZD2 | c.1198G>T (p.Ala400Ser) n.954G>T c.676G>T (p.Ala226Ser) c.205G>T (p.Ala69Ser) c.979-10115G>T (n.979-10115G>T) c.457-10115G>T (n.457-10115G>T) | |
| 5 | g.32000216C>A | CA359340813 | PDZD2 | c.1199C>A (p.Ala400Glu) n.955C>A c.677C>A (p.Ala226Glu) c.206C>A (p.Ala69Glu) c.979-10114C>A (n.979-10114C>A) c.457-10114C>A (n.457-10114C>A) | |
| 5 | g.32000216C= | CA1537300608 | PDZD2 | c.1199C= (p.Ala400=) n.955C= c.677C= (p.Ala226=) c.206C= (p.Ala69=) c.979-10114C= (n.979-10114C=) c.457-10114C= (n.457-10114C=) | |
| 5 | g.32000216C>G | CA359340815 | PDZD2 | c.1199C>G (p.Ala400Gly) n.955C>G c.677C>G (p.Ala226Gly) c.206C>G (p.Ala69Gly) c.979-10114C>G (n.979-10114C>G) c.457-10114C>G (n.457-10114C>G) | |
| 5 | g.32000216C>T | CA359340816 | PDZD2 | c.1199C>T (p.Ala400Val) n.955C>T c.677C>T (p.Ala226Val) c.206C>T (p.Ala69Val) c.979-10114C>T (n.979-10114C>T) c.457-10114C>T (n.457-10114C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.32000217A>C | CA443642766 | PDZD2 | c.1200A>C (p.Ala400=) n.956A>C c.678A>C (p.Ala226=) c.207A>C (p.Ala69=) c.979-10113A>C (n.979-10113A>C) c.457-10113A>C (n.457-10113A>C) |