| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 4 | g.186209228C>T | CA358950631 | CYP4V2,KLKB1 | c.1361C>T (p.Pro454Leu) n.596C>T n.6059C>T c.157C>T n.451C>T c.1358C>T (p.Pro453Leu) c.965C>T (p.Pro322Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209229A= | CA1519891481 | CYP4V2,KLKB1 | c.1362A= (p.Pro454=) n.597A= n.6060A= c.158A= n.452A= c.1359A= (p.Pro453=) c.966A= (p.Pro322=) | |
| 4 | g.186209229A>C | CA442882835 | CYP4V2,KLKB1 | c.1362A>C (p.Pro454=) n.597A>C n.6060A>C c.158A>C n.452A>C c.1359A>C (p.Pro453=) c.966A>C (p.Pro322=) | |
| 4 | g.186209229A>G | CA112135232 | CYP4V2,KLKB1 | c.1362A>G (p.Pro454=) n.597A>G n.6060A>G c.158A>G n.452A>G c.1359A>G (p.Pro453=) c.966A>G (p.Pro322=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186209229A>T | CA442882838 | CYP4V2,KLKB1 | c.1362A>T (p.Pro454=) n.597A>T n.6060A>T c.158A>T n.452A>T c.1359A>T (p.Pro453=) c.966A>T (p.Pro322=) | |
| 4 | g.186209230T>A | CA358950632 | CYP4V2,KLKB1 | c.1363T>A (p.Tyr455Asn) n.598T>A n.6061T>A c.159T>A n.453T>A c.1360T>A (p.Tyr454Asn) c.967T>A (p.Tyr323Asn) | |
| 4 | g.186209230T>C | CA358950633 | CYP4V2,KLKB1 | c.1363T>C (p.Tyr455His) n.598T>C n.6061T>C c.159T>C n.453T>C c.1360T>C (p.Tyr454His) c.967T>C (p.Tyr323His) | |
| 4 | g.186209230T>G | CA358950634 | CYP4V2,KLKB1 | c.1363T>G (p.Tyr455Asp) n.598T>G n.6061T>G c.159T>G n.453T>G c.1360T>G (p.Tyr454Asp) c.967T>G (p.Tyr323Asp) | |
| 4 | g.186209231A>C | CA358950635 | CYP4V2,KLKB1 | c.1364A>C (p.Tyr455Ser) n.599A>C n.6062A>C c.160A>C n.454A>C c.1361A>C (p.Tyr454Ser) c.968A>C (p.Tyr323Ser) | |
| 4 | g.186209231A>G | CA358950637 | CYP4V2,KLKB1 | c.1364A>G (p.Tyr455Cys) n.599A>G n.6062A>G c.160A>G n.454A>G c.1361A>G (p.Tyr454Cys) c.968A>G (p.Tyr323Cys) | |
| 4 | g.186209231A>T | CA358950636 | CYP4V2,KLKB1 | c.1364A>T (p.Tyr455Phe) n.599A>T n.6062A>T c.160A>T n.454A>T c.1361A>T (p.Tyr454Phe) c.968A>T (p.Tyr323Phe) | gnomAD v4 |
| 4 | g.186209232T>A | CA358950638 | CYP4V2,KLKB1 | c.1365T>A (p.Tyr455Ter) n.600T>A n.6063T>A c.161T>A n.455T>A c.1362T>A (p.Tyr454Ter) c.969T>A (p.Tyr323Ter) | |
| 4 | g.186209232T>C | CA442882849 | CYP4V2,KLKB1 | c.1365T>C (p.Tyr455=) n.600T>C n.6063T>C c.161T>C n.455T>C c.1362T>C (p.Tyr454=) c.969T>C (p.Tyr323=) | dbSNP |
| 4 | g.186209232T>G | CA358950639 | CYP4V2,KLKB1 | c.1365T>G (p.Tyr455Ter) n.600T>G n.6063T>G c.161T>G n.455T>G c.1362T>G (p.Tyr454Ter) c.969T>G (p.Tyr323Ter) | |
| 4 | g.186209232T= | CA1519891482 | CYP4V2,KLKB1 | c.1365T= (p.Tyr455=) n.600T= n.6063T= c.161T= n.455T= c.1362T= (p.Tyr454=) c.969T= (p.Tyr323=) | |
| 4 | g.186209233G>A | CA358950640 | CYP4V2,KLKB1 | c.1366G>A (p.Ala456Thr) n.601G>A n.6064G>A c.162G>A n.456G>A c.1363G>A (p.Ala455Thr) c.970G>A (p.Ala324Thr) | |
| 4 | g.186209233G>C | CA358950641 | CYP4V2,KLKB1 | c.1366G>C (p.Ala456Pro) n.601G>C n.6064G>C c.162G>C n.456G>C c.1363G>C (p.Ala455Pro) c.970G>C (p.Ala324Pro) | |
| 4 | g.186209233G>T | CA358950642 | CYP4V2,KLKB1 | c.1366G>T (p.Ala456Ser) n.601G>T n.6064G>T c.162G>T n.456G>T c.1363G>T (p.Ala455Ser) c.970G>T (p.Ala324Ser) | |
| 4 | g.186209234C>A | CA358950643 | CYP4V2,KLKB1 | c.1367C>A (p.Ala456Asp) n.602C>A n.6065C>A c.163C>A n.457C>A c.1364C>A (p.Ala455Asp) c.971C>A (p.Ala324Asp) |