| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186209215C>A | CA358950603 | CYP4V2,KLKB1 | c.1348C>A (p.Gln450Lys) n.583C>A n.6046C>A c.144C>A n.438C>A c.1345C>A (p.Gln449Lys) c.952C>A (p.Gln318Lys) | |
| 4 | g.186209215C= | CA1519891472 | CYP4V2,KLKB1 | c.1348C= (p.Gln450=) n.583C= n.6046C= c.144C= n.438C= c.1345C= (p.Gln449=) c.952C= (p.Gln318=) | |
| 4 | g.186209215C>G | CA358950604 | CYP4V2,KLKB1 | c.1348C>G (p.Gln450Glu) n.583C>G n.6046C>G c.144C>G n.438C>G c.1345C>G (p.Gln449Glu) c.952C>G (p.Gln318Glu) | gnomAD v4 |
| 4 | g.186209215C>T | CA343717 | CYP4V2,KLKB1 | c.1348C>T (p.Gln450Ter) n.583C>T n.6046C>T c.144C>T n.438C>T c.1345C>T (p.Gln449Ter) c.952C>T (p.Gln318Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186209216A= | CA1519891473 | CYP4V2,KLKB1 | c.1349A= (p.Gln450=) n.584A= n.6047A= c.145A= n.439A= c.1346A= (p.Gln449=) c.953A= (p.Gln318=) | |
| 4 | g.186209216A>C | CA358950605 | CYP4V2,KLKB1 | c.1349A>C (p.Gln450Pro) n.584A>C n.6047A>C c.145A>C n.439A>C c.1346A>C (p.Gln449Pro) c.953A>C (p.Gln318Pro) | |
| 4 | g.186209216A>G | CA358950606 | CYP4V2,KLKB1 | c.1349A>G (p.Gln450Arg) n.584A>G n.6047A>G c.145A>G n.439A>G c.1346A>G (p.Gln449Arg) c.953A>G (p.Gln318Arg) | dbSNP gnomAD v4 |
| 4 | g.186209216A>T | CA358950607 | CYP4V2,KLKB1 | c.1349A>T (p.Gln450Leu) n.584A>T n.6047A>T c.145A>T n.439A>T c.1346A>T (p.Gln449Leu) c.953A>T (p.Gln318Leu) | |
| 4 | g.186209217A= | CA1519891474 | CYP4V2,KLKB1 | c.1350A= (p.Gln450=) n.585A= n.6048A= c.146A= n.440A= c.1347A= (p.Gln449=) c.954A= (p.Gln318=) | |
| 4 | g.186209217A>C | CA358950608 | CYP4V2,KLKB1 | c.1350A>C (p.Gln450His) n.585A>C n.6048A>C c.146A>C n.440A>C c.1347A>C (p.Gln449His) c.954A>C (p.Gln318His) | |
| 4 | g.186209217A>G | CA442882781 | CYP4V2,KLKB1 | c.1350A>G (p.Gln450=) n.585A>G n.6048A>G c.146A>G n.440A>G c.1347A>G (p.Gln449=) c.954A>G (p.Gln318=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186209217A>T | CA358950609 | CYP4V2,KLKB1 | c.1350A>T (p.Gln450His) n.585A>T n.6048A>T c.146A>T n.440A>T c.1347A>T (p.Gln449His) c.954A>T (p.Gln318His) | |
| 4 | g.186209218G>A | CA358950611 | CYP4V2,KLKB1 | c.1351G>A (p.Gly451Arg) n.586G>A n.6049G>A c.147G>A n.441G>A c.1348G>A (p.Gly450Arg) c.955G>A (p.Gly319Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186209218G>C | CA3162837 | CYP4V2,KLKB1 | c.1351G>C (p.Gly451Arg) n.586G>C n.6049G>C c.147G>C n.441G>C c.1348G>C (p.Gly450Arg) c.955G>C (p.Gly319Arg) | dbSNP ExAC gnomAD v2 |
| 4 | g.186209218G= | CA1519891475 | CYP4V2,KLKB1 | c.1351G= (p.Gly451=) n.586G= n.6049G= c.147G= n.441G= c.1348G= (p.Gly450=) c.955G= (p.Gly319=) | |
| 4 | g.186209218G>T | CA358950610 | CYP4V2,KLKB1 | c.1351G>T (p.Gly451Trp) n.586G>T n.6049G>T c.147G>T n.441G>T c.1348G>T (p.Gly450Trp) c.955G>T (p.Gly319Trp) | |
| 4 | g.186209219G>A | CA358950612 | CYP4V2,KLKB1 | c.1352G>A (p.Gly451Glu) n.587G>A n.6050G>A c.148G>A n.442G>A c.1349G>A (p.Gly450Glu) c.956G>A (p.Gly319Glu) | |
| 4 | g.186209219G>C | CA358950613 | CYP4V2,KLKB1 | c.1352G>C (p.Gly451Ala) n.587G>C n.6050G>C c.148G>C n.442G>C c.1349G>C (p.Gly450Ala) c.956G>C (p.Gly319Ala) | |
| 4 | g.186209219G>T | CA358950614 | CYP4V2,KLKB1 | c.1352G>T (p.Gly451Val) n.587G>T n.6050G>T c.148G>T n.442G>T c.1349G>T (p.Gly450Val) c.956G>T (p.Gly319Val) | |
| 4 | g.186209220G>A | CA112135201 | CYP4V2,KLKB1 | c.1353G>A (p.Gly451=) n.588G>A n.6051G>A c.149G>A n.443G>A c.1350G>A (p.Gly450=) c.957G>A (p.Gly319=) | dbSNP gnomAD v4 |
| 4 | g.186209220G>C | CA442882794 | CYP4V2,KLKB1 | c.1353G>C (p.Gly451=) n.588G>C n.6051G>C c.149G>C n.443G>C c.1350G>C (p.Gly450=) c.957G>C (p.Gly319=) | |
| 4 | g.186209220G= | CA1519891476 | CYP4V2,KLKB1 | c.1353G= (p.Gly451=) n.588G= n.6051G= c.149G= n.443G= c.1350G= (p.Gly450=) c.957G= (p.Gly319=) | |
| 4 | g.186209220G>T | CA3162838 | CYP4V2,KLKB1 | c.1353G>T (p.Gly451=) n.588G>T n.6051G>T c.149G>T n.443G>T c.1350G>T (p.Gly450=) c.957G>T (p.Gly319=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209221C>A | CA358950615 | CYP4V2,KLKB1 | c.1354C>A (p.Arg452Ser) n.589C>A n.6052C>A c.150C>A n.444C>A c.1351C>A (p.Arg451Ser) c.958C>A (p.Arg320Ser) | |
| 4 | g.186209221C= | CA1519891477 | CYP4V2,KLKB1 | c.1354C= (p.Arg452=) n.589C= n.6052C= c.150C= n.444C= c.1351C= (p.Arg451=) c.958C= (p.Arg320=) | |
| 4 | g.186209221C>G | CA358950616 | CYP4V2,KLKB1 | c.1354C>G (p.Arg452Gly) n.589C>G n.6052C>G c.150C>G n.444C>G c.1351C>G (p.Arg451Gly) c.958C>G (p.Arg320Gly) | gnomAD v4 |
| 4 | g.186209221C>T | CA3162839 | CYP4V2,KLKB1 | c.1354C>T (p.Arg452Cys) n.589C>T n.6052C>T c.150C>T n.444C>T c.1351C>T (p.Arg451Cys) c.958C>T (p.Arg320Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209222G>A | CA3162840 | CYP4V2,KLKB1 | c.1355G>A (p.Arg452His) n.590G>A n.6053G>A c.151G>A n.445G>A c.1352G>A (p.Arg451His) c.959G>A (p.Arg320His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209222G>C | CA358950617 | CYP4V2,KLKB1 | c.1355G>C (p.Arg452Pro) n.590G>C n.6053G>C c.151G>C n.445G>C c.1352G>C (p.Arg451Pro) c.959G>C (p.Arg320Pro) | |
| 4 | g.186209222G= | CA1519891478 | CYP4V2,KLKB1 | c.1355G= (p.Arg452=) n.590G= n.6053G= c.151G= n.445G= c.1352G= (p.Arg451=) c.959G= (p.Arg320=) | |
| 4 | g.186209222G>T | CA358950618 | CYP4V2,KLKB1 | c.1355G>T (p.Arg452Leu) n.590G>T n.6053G>T c.151G>T n.445G>T c.1352G>T (p.Arg451Leu) c.959G>T (p.Arg320Leu) | |
| 4 | g.186209223C>A | CA442882807 | CYP4V2,KLKB1 | c.1356C>A (p.Arg452=) n.591C>A n.6054C>A c.152C>A n.446C>A c.1353C>A (p.Arg451=) c.960C>A (p.Arg320=) | |
| 4 | g.186209223C>G | CA442882811 | CYP4V2,KLKB1 | c.1356C>G (p.Arg452=) n.591C>G n.6054C>G c.152C>G n.446C>G c.1353C>G (p.Arg451=) c.960C>G (p.Arg320=) | |
| 4 | g.186209223C>T | CA442882809 | CYP4V2,KLKB1 | c.1356C>T (p.Arg452=) n.591C>T n.6054C>T c.152C>T n.446C>T c.1353C>T (p.Arg451=) c.960C>T (p.Arg320=) | |
| 4 | g.186209224C>A | CA358950619 | CYP4V2,KLKB1 | c.1357C>A (p.His453Asn) n.592C>A n.6055C>A c.153C>A n.447C>A c.1354C>A (p.His452Asn) c.961C>A (p.His321Asn) | |
| 4 | g.186209224C= | CA1519891479 | CYP4V2,KLKB1 | c.1357C= (p.His453=) n.592C= n.6055C= c.153C= n.447C= c.1354C= (p.His452=) c.961C= (p.His321=) | |
| 4 | g.186209224C>G | CA358950620 | CYP4V2,KLKB1 | c.1357C>G (p.His453Asp) n.592C>G n.6055C>G c.153C>G n.447C>G c.1354C>G (p.His452Asp) c.961C>G (p.His321Asp) | |
| 4 | g.186209224C>T | CA3162841 | CYP4V2,KLKB1 | c.1357C>T (p.His453Tyr) n.592C>T n.6055C>T c.153C>T n.447C>T c.1354C>T (p.His452Tyr) c.961C>T (p.His321Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209225A>C | CA358950621 | CYP4V2,KLKB1 | c.1358A>C (p.His453Pro) n.593A>C n.6056A>C c.154A>C n.448A>C c.1355A>C (p.His452Pro) c.962A>C (p.His321Pro) | |
| 4 | g.186209225A>G | CA358950622 | CYP4V2,KLKB1 | c.1358A>G (p.His453Arg) n.593A>G n.6056A>G c.154A>G n.448A>G c.1355A>G (p.His452Arg) c.962A>G (p.His321Arg) | |
| 4 | g.186209225A>T | CA358950623 | CYP4V2,KLKB1 | c.1358A>T (p.His453Leu) n.593A>T n.6056A>T c.154A>T n.448A>T c.1355A>T (p.His452Leu) c.962A>T (p.His321Leu) | |
| 4 | g.186209226T>A | CA358950624 | CYP4V2,KLKB1 | c.1359T>A (p.His453Gln) n.594T>A n.6057T>A c.155T>A n.449T>A c.1356T>A (p.His452Gln) c.963T>A (p.His321Gln) | |
| 4 | g.186209226T>C | CA442882823 | CYP4V2,KLKB1 | c.1359T>C (p.His453=) n.594T>C n.6057T>C c.155T>C n.449T>C c.1356T>C (p.His452=) c.963T>C (p.His321=) | |
| 4 | g.186209226T>G | CA358950625 | CYP4V2,KLKB1 | c.1359T>G (p.His453Gln) n.594T>G n.6057T>G c.155T>G n.449T>G c.1356T>G (p.His452Gln) c.963T>G (p.His321Gln) | |
| 4 | g.186209227C>A | CA358950628 | CYP4V2,KLKB1 | c.1360C>A (p.Pro454Thr) n.595C>A n.6058C>A c.156C>A n.450C>A c.1357C>A (p.Pro453Thr) c.964C>A (p.Pro322Thr) | |
| 4 | g.186209227C>G | CA358950627 | CYP4V2,KLKB1 | c.1360C>G (p.Pro454Ala) n.595C>G n.6058C>G c.156C>G n.450C>G c.1357C>G (p.Pro453Ala) c.964C>G (p.Pro322Ala) | |
| 4 | g.186209227C>T | CA358950626 | CYP4V2,KLKB1 | c.1360C>T (p.Pro454Ser) n.595C>T n.6058C>T c.156C>T n.450C>T c.1357C>T (p.Pro453Ser) c.964C>T (p.Pro322Ser) | |
| 4 | g.186209228C>A | CA358950629 | CYP4V2,KLKB1 | c.1361C>A (p.Pro454Gln) n.596C>A n.6059C>A c.157C>A n.451C>A c.1358C>A (p.Pro453Gln) c.965C>A (p.Pro322Gln) | |
| 4 | g.186209228C= | CA1519891480 | CYP4V2,KLKB1 | c.1361C= (p.Pro454=) n.596C= n.6059C= c.157C= n.451C= c.1358C= (p.Pro453=) c.965C= (p.Pro322=) | |
| 4 | g.186209228C>G | CA358950630 | CYP4V2,KLKB1 | c.1361C>G (p.Pro454Arg) n.596C>G n.6059C>G c.157C>G n.451C>G c.1358C>G (p.Pro453Arg) c.965C>G (p.Pro322Arg) |