| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.32000177T>A | CA359340661 | PDZD2 | c.1160T>A (p.Ile387Asn) n.916T>A c.638T>A (p.Ile213Asn) c.167T>A (p.Ile56Asn) c.979-10153T>A (n.979-10153T>A) c.457-10153T>A (n.457-10153T>A) | |
| 5 | g.32000177T>C | CA359340662 | PDZD2 | c.1160T>C (p.Ile387Thr) n.916T>C c.638T>C (p.Ile213Thr) c.167T>C (p.Ile56Thr) c.979-10153T>C (n.979-10153T>C) c.457-10153T>C (n.457-10153T>C) | gnomAD v4 |
| 5 | g.32000177T>G | CA359340663 | PDZD2 | c.1160T>G (p.Ile387Ser) n.916T>G c.638T>G (p.Ile213Ser) c.167T>G (p.Ile56Ser) c.979-10153T>G (n.979-10153T>G) c.457-10153T>G (n.457-10153T>G) | |
| 5 | g.32000178C>A | CA443642714 | PDZD2 | c.1161C>A (p.Ile387=) n.917C>A c.639C>A (p.Ile213=) c.168C>A (p.Ile56=) c.979-10152C>A (n.979-10152C>A) c.457-10152C>A (n.457-10152C>A) | |
| 5 | g.32000178C= | CA1537300511 | PDZD2 | c.1161C= (p.Ile387=) n.917C= c.639C= (p.Ile213=) c.168C= (p.Ile56=) c.979-10152C= (n.979-10152C=) c.457-10152C= (n.457-10152C=) | |
| 5 | g.32000178C>G | CA359340664 | PDZD2 | c.1161C>G (p.Ile387Met) n.917C>G c.639C>G (p.Ile213Met) c.168C>G (p.Ile56Met) c.979-10152C>G (n.979-10152C>G) c.457-10152C>G (n.457-10152C>G) | |
| 5 | g.32000178C>T | CA3218766 | PDZD2 | c.1161C>T (p.Ile387=) n.917C>T c.639C>T (p.Ile213=) c.168C>T (p.Ile56=) c.979-10152C>T (n.979-10152C>T) c.457-10152C>T (n.457-10152C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.32000179A>C | CA359340665 | PDZD2 | c.1162A>C (p.Asn388His) n.918A>C c.640A>C (p.Asn214His) c.169A>C (p.Asn57His) c.979-10151A>C (n.979-10151A>C) c.457-10151A>C (n.457-10151A>C) | |
| 5 | g.32000179A>G | CA359340666 | PDZD2 | c.1162A>G (p.Asn388Asp) n.918A>G c.640A>G (p.Asn214Asp) c.169A>G (p.Asn57Asp) c.979-10151A>G (n.979-10151A>G) c.457-10151A>G (n.457-10151A>G) | |
| 5 | g.32000179A>T | CA359340667 | PDZD2 | c.1162A>T (p.Asn388Tyr) n.918A>T c.640A>T (p.Asn214Tyr) c.169A>T (p.Asn57Tyr) c.979-10151A>T (n.979-10151A>T) c.457-10151A>T (n.457-10151A>T) | |
| 5 | g.32000180A= | CA1537300516 | PDZD2 | c.1163A= (p.Asn388=) n.919A= c.641A= (p.Asn214=) c.170A= (p.Asn57=) c.979-10150A= (n.979-10150A=) c.457-10150A= (n.457-10150A=) | |
| 5 | g.32000180A>C | CA359340668 | PDZD2 | c.1163A>C (p.Asn388Thr) n.919A>C c.641A>C (p.Asn214Thr) c.170A>C (p.Asn57Thr) c.979-10150A>C (n.979-10150A>C) c.457-10150A>C (n.457-10150A>C) | |
| 5 | g.32000180A>G | CA359340669 | PDZD2 | c.1163A>G (p.Asn388Ser) n.919A>G c.641A>G (p.Asn214Ser) c.170A>G (p.Asn57Ser) c.979-10150A>G (n.979-10150A>G) c.457-10150A>G (n.457-10150A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.32000180A>T | CA359340670 | PDZD2 | c.1163A>T (p.Asn388Ile) n.919A>T c.641A>T (p.Asn214Ile) c.170A>T (p.Asn57Ile) c.979-10150A>T (n.979-10150A>T) c.457-10150A>T (n.457-10150A>T) | |
| 5 | g.32000181T>A | CA359340671 | PDZD2 | c.1164T>A (p.Asn388Lys) n.920T>A c.642T>A (p.Asn214Lys) c.171T>A (p.Asn57Lys) c.979-10149T>A (n.979-10149T>A) c.457-10149T>A (n.457-10149T>A) | |
| 5 | g.32000181T>C | CA3218767 | PDZD2 | c.1164T>C (p.Asn388=) n.920T>C c.642T>C (p.Asn214=) c.171T>C (p.Asn57=) c.979-10149T>C (n.979-10149T>C) c.457-10149T>C (n.457-10149T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.32000181T>G | CA359340672 | PDZD2 | c.1164T>G (p.Asn388Lys) n.920T>G c.642T>G (p.Asn214Lys) c.171T>G (p.Asn57Lys) c.979-10149T>G (n.979-10149T>G) c.457-10149T>G (n.457-10149T>G) | |
| 5 | g.32000181T= | CA1537300521 | PDZD2 | c.1164T= (p.Asn388=) n.920T= c.642T= (p.Asn214=) c.171T= (p.Asn57=) c.979-10149T= (n.979-10149T=) c.457-10149T= (n.457-10149T=) | |
| 5 | g.32000182G>A | CA359340673 | PDZD2 | c.1165G>A (p.Gly389Ser) n.921G>A c.643G>A (p.Gly215Ser) c.172G>A (p.Gly58Ser) c.979-10148G>A (n.979-10148G>A) c.457-10148G>A (n.457-10148G>A) | gnomAD v4 |
| 5 | g.32000182G>C | CA359340674 | PDZD2 | c.1165G>C (p.Gly389Arg) n.921G>C c.643G>C (p.Gly215Arg) c.172G>C (p.Gly58Arg) c.979-10148G>C (n.979-10148G>C) c.457-10148G>C (n.457-10148G>C) | |
| 5 | g.32000182G>T | CA359340675 | PDZD2 | c.1165G>T (p.Gly389Cys) n.921G>T c.643G>T (p.Gly215Cys) c.172G>T (p.Gly58Cys) c.979-10148G>T (n.979-10148G>T) c.457-10148G>T (n.457-10148G>T) | |
| 5 | g.32000183G>A | CA3218768 | PDZD2 | c.1166G>A (p.Gly389Asp) n.922G>A c.644G>A (p.Gly215Asp) c.173G>A (p.Gly58Asp) c.979-10147G>A (n.979-10147G>A) c.457-10147G>A (n.457-10147G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.32000183G>C | CA359340677 | PDZD2 | c.1166G>C (p.Gly389Ala) n.922G>C c.644G>C (p.Gly215Ala) c.173G>C (p.Gly58Ala) c.979-10147G>C (n.979-10147G>C) c.457-10147G>C (n.457-10147G>C) | |
| 5 | g.32000183G= | CA1537300527 | PDZD2 | c.1166G= (p.Gly389=) n.922G= c.644G= (p.Gly215=) c.173G= (p.Gly58=) c.979-10147G= (n.979-10147G=) c.457-10147G= (n.457-10147G=) | |
| 5 | g.32000183G>T | CA359340676 | PDZD2 | c.1166G>T (p.Gly389Val) n.922G>T c.644G>T (p.Gly215Val) c.173G>T (p.Gly58Val) c.979-10147G>T (n.979-10147G>T) c.457-10147G>T (n.457-10147G>T) | |
| 5 | g.32000184T>A | CA443642721 | PDZD2 | c.1167T>A (p.Gly389=) n.923T>A c.645T>A (p.Gly215=) c.174T>A (p.Gly58=) c.979-10146T>A (n.979-10146T>A) c.457-10146T>A (n.457-10146T>A) | |
| 5 | g.32000184T>C | CA443642722 | PDZD2 | c.1167T>C (p.Gly389=) n.923T>C c.645T>C (p.Gly215=) c.174T>C (p.Gly58=) c.979-10146T>C (n.979-10146T>C) c.457-10146T>C (n.457-10146T>C) | |
| 5 | g.32000184T>G | CA443642723 | PDZD2 | c.1167T>G (p.Gly389=) n.923T>G c.645T>G (p.Gly215=) c.174T>G (p.Gly58=) c.979-10146T>G (n.979-10146T>G) c.457-10146T>G (n.457-10146T>G) | |
| 5 | g.32000185C>A | CA359340681 | PDZD2 | c.1168C>A (p.His390Asn) n.924C>A c.646C>A (p.His216Asn) c.175C>A (p.His59Asn) c.979-10145C>A (n.979-10145C>A) c.457-10145C>A (n.457-10145C>A) | |
| 5 | g.32000185C= | CA1537300535 | PDZD2 | c.1168C= (p.His390=) n.924C= c.646C= (p.His216=) c.175C= (p.His59=) c.979-10145C= (n.979-10145C=) c.457-10145C= (n.457-10145C=) | |
| 5 | g.32000185C>G | CA359340682 | PDZD2 | c.1168C>G (p.His390Asp) n.924C>G c.646C>G (p.His216Asp) c.175C>G (p.His59Asp) c.979-10145C>G (n.979-10145C>G) c.457-10145C>G (n.457-10145C>G) | |
| 5 | g.32000185C>T | CA3218769 | PDZD2 | c.1168C>T (p.His390Tyr) n.924C>T c.646C>T (p.His216Tyr) c.175C>T (p.His59Tyr) c.979-10145C>T (n.979-10145C>T) c.457-10145C>T (n.457-10145C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.32000186A= | CA1537300541 | PDZD2 | c.1169A= (p.His390=) n.925A= c.647A= (p.His216=) c.176A= (p.His59=) c.979-10144A= (n.979-10144A=) c.457-10144A= (n.457-10144A=) | |
| 5 | g.32000186A>C | CA359340685 | PDZD2 | c.1169A>C (p.His390Pro) n.925A>C c.647A>C (p.His216Pro) c.176A>C (p.His59Pro) c.979-10144A>C (n.979-10144A>C) c.457-10144A>C (n.457-10144A>C) | |
| 5 | g.32000186A>G | CA3218770 | PDZD2 | c.1169A>G (p.His390Arg) n.925A>G c.647A>G (p.His216Arg) c.176A>G (p.His59Arg) c.979-10144A>G (n.979-10144A>G) c.457-10144A>G (n.457-10144A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.32000186A>T | CA359340687 | PDZD2 | c.1169A>T (p.His390Leu) n.925A>T c.647A>T (p.His216Leu) c.176A>T (p.His59Leu) c.979-10144A>T (n.979-10144A>T) c.457-10144A>T (n.457-10144A>T) | |
| 5 | g.32000187T>A | CA359340690 | PDZD2 | c.1170T>A (p.His390Gln) n.926T>A c.648T>A (p.His216Gln) c.177T>A (p.His59Gln) c.979-10143T>A (n.979-10143T>A) c.457-10143T>A (n.457-10143T>A) | |
| 5 | g.32000187T>C | CA443642730 | PDZD2 | c.1170T>C (p.His390=) n.926T>C c.648T>C (p.His216=) c.177T>C (p.His59=) c.979-10143T>C (n.979-10143T>C) c.457-10143T>C (n.457-10143T>C) | |
| 5 | g.32000187T>G | CA359340692 | PDZD2 | c.1170T>G (p.His390Gln) n.926T>G c.648T>G (p.His216Gln) c.177T>G (p.His59Gln) c.979-10143T>G (n.979-10143T>G) c.457-10143T>G (n.457-10143T>G) | |
| 5 | g.32000188T>A | CA359340693 | PDZD2 | c.1171T>A (p.Leu391Ile) n.927T>A c.649T>A (p.Leu217Ile) c.178T>A (p.Leu60Ile) c.979-10142T>A (n.979-10142T>A) c.457-10142T>A (n.457-10142T>A) | |
| 5 | g.32000188T>C | CA443642731 | PDZD2 | c.1171T>C (p.Leu391=) n.927T>C c.649T>C (p.Leu217=) c.178T>C (p.Leu60=) c.979-10142T>C (n.979-10142T>C) c.457-10142T>C (n.457-10142T>C) | |
| 5 | g.32000188T>G | CA359340695 | PDZD2 | c.1171T>G (p.Leu391Val) n.927T>G c.649T>G (p.Leu217Val) c.178T>G (p.Leu60Val) c.979-10142T>G (n.979-10142T>G) c.457-10142T>G (n.457-10142T>G) | |
| 5 | g.32000189T>A | CA359340697 | PDZD2 | c.1172T>A (p.Leu391Ter) n.928T>A c.650T>A (p.Leu217Ter) c.179T>A (p.Leu60Ter) c.979-10141T>A (n.979-10141T>A) c.457-10141T>A (n.457-10141T>A) | |
| 5 | g.32000189T>C | CA359340699 | PDZD2 | c.1172T>C (p.Leu391Ser) n.928T>C c.650T>C (p.Leu217Ser) c.179T>C (p.Leu60Ser) c.979-10141T>C (n.979-10141T>C) c.457-10141T>C (n.457-10141T>C) | |
| 5 | g.32000189T>G | CA359340701 | PDZD2 | c.1172T>G (p.Leu391Ter) n.928T>G c.650T>G (p.Leu217Ter) c.179T>G (p.Leu60Ter) c.979-10141T>G (n.979-10141T>G) c.457-10141T>G (n.457-10141T>G) | |
| 5 | g.32000190A= | CA1537300544 | PDZD2 | c.1173A= (p.Leu391=) n.929A= c.651A= (p.Leu217=) c.180A= (p.Leu60=) c.979-10140A= (n.979-10140A=) c.457-10140A= (n.457-10140A=) | |
| 5 | g.32000190A>C | CA359340705 | PDZD2 | c.1173A>C (p.Leu391Phe) n.929A>C c.651A>C (p.Leu217Phe) c.180A>C (p.Leu60Phe) c.979-10140A>C (n.979-10140A>C) c.457-10140A>C (n.457-10140A>C) | |
| 5 | g.32000190A>G | CA3218771 | PDZD2 | c.1173A>G (p.Leu391=) n.929A>G c.651A>G (p.Leu217=) c.180A>G (p.Leu60=) c.979-10140A>G (n.979-10140A>G) c.457-10140A>G (n.457-10140A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.32000190A>T | CA359340703 | PDZD2 | c.1173A>T (p.Leu391Phe) n.929A>T c.651A>T (p.Leu217Phe) c.180A>T (p.Leu60Phe) c.979-10140A>T (n.979-10140A>T) c.457-10140A>T (n.457-10140A>T) | |
| 5 | g.32000191C>A | CA359340709 | PDZD2 | c.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) |