| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186209182T>A | CA358950529 | CYP4V2,KLKB1 | c.1315T>A (p.Phe439Ile) n.550T>A n.6013T>A c.111T>A n.405T>A c.1312T>A (p.Phe438Ile) c.919T>A (p.Phe307Ile) | |
| 4 | g.186209182T>C | CA358950530 | CYP4V2,KLKB1 | c.1315T>C (p.Phe439Leu) n.550T>C n.6013T>C c.111T>C n.405T>C c.1312T>C (p.Phe438Leu) c.919T>C (p.Phe307Leu) | |
| 4 | g.186209182T>G | CA358950531 | CYP4V2,KLKB1 | c.1315T>G (p.Phe439Val) n.550T>G n.6013T>G c.111T>G n.405T>G c.1312T>G (p.Phe438Val) c.919T>G (p.Phe307Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186209182T= | CA1519891452 | CYP4V2,KLKB1 | c.1315T= (p.Phe439=) n.550T= n.6013T= c.111T= n.405T= c.1312T= (p.Phe438=) c.919T= (p.Phe307=) | |
| 4 | g.186209183T>A | CA3162827 | CYP4V2,KLKB1 | c.1316T>A (p.Phe439Tyr) n.551T>A n.6014T>A c.112T>A n.406T>A c.1313T>A (p.Phe438Tyr) c.920T>A (p.Phe307Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186209183T>C | CA358950532 | CYP4V2,KLKB1 | c.1316T>C (p.Phe439Ser) n.551T>C n.6014T>C c.112T>C n.406T>C c.1313T>C (p.Phe438Ser) c.920T>C (p.Phe307Ser) | |
| 4 | g.186209183T>G | CA358950533 | CYP4V2,KLKB1 | c.1316T>G (p.Phe439Cys) n.551T>G n.6014T>G c.112T>G n.406T>G c.1313T>G (p.Phe438Cys) c.920T>G (p.Phe307Cys) | |
| 4 | g.186209183T= | CA1519891453 | CYP4V2,KLKB1 | c.1316T= (p.Phe439=) n.551T= n.6014T= c.112T= n.406T= c.1313T= (p.Phe438=) c.920T= (p.Phe307=) | |
| 4 | g.186209184C>A | CA358950534 | CYP4V2,KLKB1 | c.1317C>A (p.Phe439Leu) n.552C>A n.6015C>A c.113C>A n.407C>A c.1314C>A (p.Phe438Leu) c.921C>A (p.Phe307Leu) | |
| 4 | g.186209184C= | CA1519891454 | CYP4V2,KLKB1 | c.1317C= (p.Phe439=) n.552C= n.6015C= c.113C= n.407C= c.1314C= (p.Phe438=) c.921C= (p.Phe307=) | |
| 4 | g.186209184C>G | CA358950535 | CYP4V2,KLKB1 | c.1317C>G (p.Phe439Leu) n.552C>G n.6015C>G c.113C>G n.407C>G c.1314C>G (p.Phe438Leu) c.921C>G (p.Phe307Leu) | |
| 4 | g.186209184C>T | CA442882625 | CYP4V2,KLKB1 | c.1317C>T (p.Phe439=) n.552C>T n.6015C>T c.113C>T n.407C>T c.1314C>T (p.Phe438=) c.921C>T (p.Phe307=) | dbSNP |
| 4 | g.186209185C>A | CA358950536 | CYP4V2,KLKB1 | c.1318C>A (p.Gln440Lys) n.553C>A n.6016C>A c.114C>A n.408C>A c.1315C>A (p.Gln439Lys) c.922C>A (p.Gln308Lys) | |
| 4 | g.186209185C= | CA1519891455 | CYP4V2,KLKB1 | c.1318C= (p.Gln440=) n.553C= n.6016C= c.114C= n.408C= c.1315C= (p.Gln439=) c.922C= (p.Gln308=) | |
| 4 | g.186209185C>G | CA358950537 | CYP4V2,KLKB1 | c.1318C>G (p.Gln440Glu) n.553C>G n.6016C>G c.114C>G n.408C>G c.1315C>G (p.Gln439Glu) c.922C>G (p.Gln308Glu) | |
| 4 | g.186209185C>T | CA358950538 | CYP4V2,KLKB1 | c.1318C>T (p.Gln440Ter) n.553C>T n.6016C>T c.114C>T n.408C>T c.1315C>T (p.Gln439Ter) c.922C>T (p.Gln308Ter) | ClinVar dbSNP |
| 4 | g.186209186A>C | CA358950541 | CYP4V2,KLKB1 | c.1319A>C (p.Gln440Pro) n.554A>C n.6017A>C c.115A>C n.409A>C c.1316A>C (p.Gln439Pro) c.923A>C (p.Gln308Pro) | |
| 4 | g.186209186A>G | CA358950540 | CYP4V2,KLKB1 | c.1319A>G (p.Gln440Arg) n.554A>G n.6017A>G c.115A>G n.409A>G c.1316A>G (p.Gln439Arg) c.923A>G (p.Gln308Arg) | |
| 4 | g.186209186A>T | CA358950539 | CYP4V2,KLKB1 | c.1319A>T (p.Gln440Leu) n.554A>T n.6017A>T c.115A>T n.409A>T c.1316A>T (p.Gln439Leu) c.923A>T (p.Gln308Leu) | gnomAD v4 |
| 4 | g.186209187G>A | CA442882636 | CYP4V2,KLKB1 | c.1320G>A (p.Gln440=) n.555G>A n.6018G>A c.116G>A n.410G>A c.1317G>A (p.Gln439=) c.924G>A (p.Gln308=) | |
| 4 | g.186209187G>C | CA358950542 | CYP4V2,KLKB1 | c.1320G>C (p.Gln440His) n.555G>C n.6018G>C c.116G>C n.410G>C c.1317G>C (p.Gln439His) c.924G>C (p.Gln308His) | |
| 4 | g.186209187G= | CA1519891456 | CYP4V2,KLKB1 | c.1320G= (p.Gln440=) n.555G= n.6018G= c.116G= n.410G= c.1317G= (p.Gln439=) c.924G= (p.Gln308=) | |
| 4 | g.186209187G>T | CA358950543 | CYP4V2,KLKB1 | c.1320G>T (p.Gln440His) n.555G>T n.6018G>T c.116G>T n.410G>T c.1317G>T (p.Gln439His) c.924G>T (p.Gln308His) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186209188C>A | CA358950544 | CYP4V2,KLKB1 | c.1321C>A (p.Pro441Thr) n.556C>A n.6019C>A c.117C>A n.411C>A c.1318C>A (p.Pro440Thr) c.925C>A (p.Pro309Thr) | gnomAD v4 |
| 4 | g.186209188C>G | CA358950545 | CYP4V2,KLKB1 | c.1321C>G (p.Pro441Ala) n.556C>G n.6019C>G c.117C>G n.411C>G c.1318C>G (p.Pro440Ala) c.925C>G (p.Pro309Ala) | |
| 4 | g.186209188C>T | CA358950546 | CYP4V2,KLKB1 | c.1321C>T (p.Pro441Ser) n.556C>T n.6019C>T c.117C>T n.411C>T c.1318C>T (p.Pro440Ser) c.925C>T (p.Pro309Ser) | gnomAD v4 |
| 4 | g.186209189C>A | CA358950547 | CYP4V2,KLKB1 | c.1322C>A (p.Pro441His) n.557C>A n.6020C>A c.118C>A n.412C>A c.1319C>A (p.Pro440His) c.926C>A (p.Pro309His) | |
| 4 | g.186209189C>G | CA358950548 | CYP4V2,KLKB1 | c.1322C>G (p.Pro441Arg) n.557C>G n.6020C>G c.118C>G n.412C>G c.1319C>G (p.Pro440Arg) c.926C>G (p.Pro309Arg) | |
| 4 | g.186209189C>T | CA358950549 | CYP4V2,KLKB1 | c.1322C>T (p.Pro441Leu) n.557C>T n.6020C>T c.118C>T n.412C>T c.1319C>T (p.Pro440Leu) c.926C>T (p.Pro309Leu) | |
| 4 | g.186209190T>A | CA442882645 | CYP4V2,KLKB1 | c.1323T>A (p.Pro441=) n.558T>A n.6021T>A c.119T>A n.413T>A c.1320T>A (p.Pro440=) c.927T>A (p.Pro309=) | |
| 4 | g.186209190T>C | CA442882649 | CYP4V2,KLKB1 | c.1323T>C (p.Pro441=) n.558T>C n.6021T>C c.119T>C n.413T>C c.1320T>C (p.Pro440=) c.927T>C (p.Pro309=) | |
| 4 | g.186209190T>G | CA442882647 | CYP4V2,KLKB1 | c.1323T>G (p.Pro441=) n.558T>G n.6021T>G c.119T>G n.413T>G c.1320T>G (p.Pro440=) c.927T>G (p.Pro309=) | |
| 4 | g.186209191G>A | CA3162828 | CYP4V2,KLKB1 | c.1324G>A (p.Glu442Lys) n.559G>A n.6022G>A c.120G>A n.414G>A c.1321G>A (p.Glu441Lys) c.928G>A (p.Glu310Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209191G>C | CA358950550 | CYP4V2,KLKB1 | c.1324G>C (p.Glu442Gln) n.559G>C n.6022G>C c.120G>C n.414G>C c.1321G>C (p.Glu441Gln) c.928G>C (p.Glu310Gln) | |
| 4 | g.186209191G= | CA1519891457 | CYP4V2,KLKB1 | c.1324G= (p.Glu442=) n.559G= n.6022G= c.120G= n.414G= c.1321G= (p.Glu441=) c.928G= (p.Glu310=) | |
| 4 | g.186209191G>T | CA358950551 | CYP4V2,KLKB1 | c.1324G>T (p.Glu442Ter) n.559G>T n.6022G>T c.120G>T n.414G>T c.1321G>T (p.Glu441Ter) c.928G>T (p.Glu310Ter) | |
| 4 | g.186209192A>C | CA358950552 | CYP4V2,KLKB1 | c.1325A>C (p.Glu442Ala) n.560A>C n.6023A>C c.121A>C n.415A>C c.1322A>C (p.Glu441Ala) c.929A>C (p.Glu310Ala) | |
| 4 | g.186209192A>G | CA358950553 | CYP4V2,KLKB1 | c.1325A>G (p.Glu442Gly) n.560A>G n.6023A>G c.121A>G n.415A>G c.1322A>G (p.Glu441Gly) c.929A>G (p.Glu310Gly) | |
| 4 | g.186209192A>T | CA358950554 | CYP4V2,KLKB1 | c.1325A>T (p.Glu442Val) n.560A>T n.6023A>T c.121A>T n.415A>T c.1322A>T (p.Glu441Val) c.929A>T (p.Glu310Val) | |
| 4 | g.186209193G>A | CA442882672 | CYP4V2,KLKB1 | c.1326G>A (p.Glu442=) n.561G>A n.6024G>A c.122G>A n.416G>A c.1323G>A (p.Glu441=) c.930G>A (p.Glu310=) | |
| 4 | g.186209193G>C | CA358950556 | CYP4V2,KLKB1 | c.1326G>C (p.Glu442Asp) n.561G>C n.6024G>C c.122G>C n.416G>C c.1323G>C (p.Glu441Asp) c.930G>C (p.Glu310Asp) | |
| 4 | g.186209193G>T | CA358950555 | CYP4V2,KLKB1 | c.1326G>T (p.Glu442Asp) n.561G>T n.6024G>T c.122G>T n.416G>T c.1323G>T (p.Glu441Asp) c.930G>T (p.Glu310Asp) | |
| 4 | g.186209194C>A | CA442882677 | CYP4V2,KLKB1 | c.1327C>A (p.Arg443=) n.562C>A n.6025C>A c.123C>A n.417C>A c.1324C>A (p.Arg442=) c.931C>A (p.Arg311=) | |
| 4 | g.186209194C= | CA1519891458 | CYP4V2,KLKB1 | c.1327C= (p.Arg443=) n.562C= n.6025C= c.123C= n.417C= c.1324C= (p.Arg442=) c.931C= (p.Arg311=) | |
| 4 | g.186209194C>G | CA358950557 | CYP4V2,KLKB1 | c.1327C>G (p.Arg443Gly) n.562C>G n.6025C>G c.123C>G n.417C>G c.1324C>G (p.Arg442Gly) c.931C>G (p.Arg311Gly) | |
| 4 | g.186209194C>T | CA3162829 | CYP4V2,KLKB1 | c.1327C>T (p.Arg443Trp) n.562C>T n.6025C>T c.123C>T n.417C>T c.1324C>T (p.Arg442Trp) c.931C>T (p.Arg311Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.186209195G>A | CA3162830 | CYP4V2,KLKB1 | c.1328G>A (p.Arg443Gln) n.563G>A n.6026G>A c.124G>A n.418G>A c.1325G>A (p.Arg442Gln) c.932G>A (p.Arg311Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209195G>C | CA358950558 | CYP4V2,KLKB1 | c.1328G>C (p.Arg443Pro) n.563G>C n.6026G>C c.124G>C n.418G>C c.1325G>C (p.Arg442Pro) c.932G>C (p.Arg311Pro) | gnomAD v4 |
| 4 | g.186209195G= | CA1519891459 | CYP4V2,KLKB1 | c.1328G= (p.Arg443=) n.563G= n.6026G= c.124G= n.418G= c.1325G= (p.Arg442=) c.932G= (p.Arg311=) | |
| 4 | g.186209195G>T | CA358950559 | CYP4V2,KLKB1 | c.1328G>T (p.Arg443Leu) n.563G>T n.6026G>T c.124G>T n.418G>T c.1325G>T (p.Arg442Leu) c.932G>T (p.Arg311Leu) |