| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186209153_186209178dup | CA2672897705 | CYP4V2,KLKB1 | c.1286_1311dup (p.Glu438IlefsTer?) n.521_546dup n.5984_6009dup c.82_107dup n.376_401dup c.1283_1308dup (p.Glu437IlefsTer?) c.890_915dup (p.Glu306IlefsTer?) | gnomAD v4 |
| 4 | g.186209172C>A | CA358950507 | CYP4V2,KLKB1 | c.1305C>A (p.Asn435Lys) n.540C>A n.6003C>A c.101C>A n.395C>A c.1302C>A (p.Asn434Lys) c.909C>A (p.Asn303Lys) | gnomAD v4 |
| 4 | g.186209172C>G | CA358950508 | CYP4V2,KLKB1 | c.1305C>G (p.Asn435Lys) n.540C>G n.6003C>G c.101C>G n.395C>G c.1302C>G (p.Asn434Lys) c.909C>G (p.Asn303Lys) | |
| 4 | g.186209172C>T | CA442882576 | CYP4V2,KLKB1 | c.1305C>T (p.Asn435=) n.540C>T n.6003C>T c.101C>T n.395C>T c.1302C>T (p.Asn434=) c.909C>T (p.Asn303=) | |
| 4 | g.186209173C>A | CA358950509 | CYP4V2,KLKB1 | c.1306C>A (p.Pro436Thr) n.541C>A n.6004C>A c.102C>A n.396C>A c.1303C>A (p.Pro435Thr) c.910C>A (p.Pro304Thr) | |
| 4 | g.186209173C= | CA1519891446 | CYP4V2,KLKB1 | c.1306C= (p.Pro436=) n.541C= n.6004C= c.102C= n.396C= c.1303C= (p.Pro435=) c.910C= (p.Pro304=) | |
| 4 | g.186209173C>G | CA358950510 | CYP4V2,KLKB1 | c.1306C>G (p.Pro436Ala) n.541C>G n.6004C>G c.102C>G n.396C>G c.1303C>G (p.Pro435Ala) c.910C>G (p.Pro304Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209173C>T | CA358950511 | CYP4V2,KLKB1 | c.1306C>T (p.Pro436Ser) n.541C>T n.6004C>T c.102C>T n.396C>T c.1303C>T (p.Pro435Ser) c.910C>T (p.Pro304Ser) | |
| 4 | g.186209174C>A | CA358950512 | CYP4V2,KLKB1 | c.1307C>A (p.Pro436His) n.542C>A n.6005C>A c.103C>A n.397C>A c.1304C>A (p.Pro435His) c.911C>A (p.Pro304His) | |
| 4 | g.186209174C= | CA1519891447 | CYP4V2,KLKB1 | c.1307C= (p.Pro436=) n.542C= n.6005C= c.103C= n.397C= c.1304C= (p.Pro435=) c.911C= (p.Pro304=) | |
| 4 | g.186209174C>G | CA358950513 | CYP4V2,KLKB1 | c.1307C>G (p.Pro436Arg) n.542C>G n.6005C>G c.103C>G n.397C>G c.1304C>G (p.Pro435Arg) c.911C>G (p.Pro304Arg) | ClinVar gnomAD v4 |
| 4 | g.186209174C>T | CA358950514 | CYP4V2,KLKB1 | c.1307C>T (p.Pro436Leu) n.542C>T n.6005C>T c.103C>T n.397C>T c.1304C>T (p.Pro435Leu) c.911C>T (p.Pro304Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186209175C>A | CA442882586 | CYP4V2,KLKB1 | c.1308C>A (p.Pro436=) n.543C>A n.6006C>A c.104C>A n.398C>A c.1305C>A (p.Pro435=) c.912C>A (p.Pro304=) | gnomAD v4 |
| 4 | g.186209175C= | CA1519891448 | CYP4V2,KLKB1 | c.1308C= (p.Pro436=) n.543C= n.6006C= c.104C= n.398C= c.1305C= (p.Pro435=) c.912C= (p.Pro304=) | |
| 4 | g.186209175C>G | CA3162823 | CYP4V2,KLKB1 | c.1308C>G (p.Pro436=) n.543C>G n.6006C>G c.104C>G n.398C>G c.1305C>G (p.Pro435=) c.912C>G (p.Pro304=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209175C>T | CA3162822 | CYP4V2,KLKB1 | c.1308C>T (p.Pro436=) n.543C>T n.6006C>T c.104C>T n.398C>T c.1305C>T (p.Pro435=) c.912C>T (p.Pro304=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.186209176G>A | CA3162824 | CYP4V2,KLKB1 | c.1309G>A (p.Glu437Lys) n.544G>A n.6007G>A c.105G>A n.399G>A c.1306G>A (p.Glu436Lys) c.913G>A (p.Glu305Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209176G>C | CA358950515 | CYP4V2,KLKB1 | c.1309G>C (p.Glu437Gln) n.544G>C n.6007G>C c.105G>C n.399G>C c.1306G>C (p.Glu436Gln) c.913G>C (p.Glu305Gln) | |
| 4 | g.186209176G= | CA1519891449 | CYP4V2,KLKB1 | c.1309G= (p.Glu437=) n.544G= n.6007G= c.105G= n.399G= c.1306G= (p.Glu436=) c.913G= (p.Glu305=) | |
| 4 | g.186209176G>T | CA358950516 | CYP4V2,KLKB1 | c.1309G>T (p.Glu437Ter) n.544G>T n.6007G>T c.105G>T n.399G>T c.1306G>T (p.Glu436Ter) c.913G>T (p.Glu305Ter) | |
| 4 | g.186209177A>C | CA358950517 | CYP4V2,KLKB1 | c.1310A>C (p.Glu437Ala) n.545A>C n.6008A>C c.106A>C n.400A>C c.1307A>C (p.Glu436Ala) c.914A>C (p.Glu305Ala) | |
| 4 | g.186209177A>G | CA358950518 | CYP4V2,KLKB1 | c.1310A>G (p.Glu437Gly) n.545A>G n.6008A>G c.106A>G n.400A>G c.1307A>G (p.Glu436Gly) c.914A>G (p.Glu305Gly) | |
| 4 | g.186209177A>T | CA358950519 | CYP4V2,KLKB1 | c.1310A>T (p.Glu437Val) n.545A>T n.6008A>T c.106A>T n.400A>T c.1307A>T (p.Glu436Val) c.914A>T (p.Glu305Val) | |
| 4 | g.186209178G>A | CA442882598 | CYP4V2,KLKB1 | c.1311G>A (p.Glu437=) n.546G>A n.6009G>A c.107G>A n.401G>A c.1308G>A (p.Glu436=) c.915G>A (p.Glu305=) | gnomAD v4 |
| 4 | g.186209178G>C | CA358950521 | CYP4V2,KLKB1 | c.1311G>C (p.Glu437Asp) n.546G>C n.6009G>C c.107G>C n.401G>C c.1308G>C (p.Glu436Asp) c.915G>C (p.Glu305Asp) | |
| 4 | g.186209178G>T | CA358950520 | CYP4V2,KLKB1 | c.1311G>T (p.Glu437Asp) n.546G>T n.6009G>T c.107G>T n.401G>T c.1308G>T (p.Glu436Asp) c.915G>T (p.Glu305Asp) | |
| 4 | g.186209179G>A | CA3162825 | CYP4V2,KLKB1 | c.1312G>A (p.Glu438Lys) n.547G>A n.6010G>A c.108G>A n.402G>A c.1309G>A (p.Glu437Lys) c.916G>A (p.Glu306Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209179G>C | CA358950522 | CYP4V2,KLKB1 | c.1312G>C (p.Glu438Gln) n.547G>C n.6010G>C c.108G>C n.402G>C c.1309G>C (p.Glu437Gln) c.916G>C (p.Glu306Gln) | |
| 4 | g.186209179G= | CA1519891450 | CYP4V2,KLKB1 | c.1312G= (p.Glu438=) n.547G= n.6010G= c.108G= n.402G= c.1309G= (p.Glu437=) c.916G= (p.Glu306=) | |
| 4 | g.186209179G>T | CA358950523 | CYP4V2,KLKB1 | c.1312G>T (p.Glu438Ter) n.547G>T n.6010G>T c.108G>T n.402G>T c.1309G>T (p.Glu437Ter) c.916G>T (p.Glu306Ter) | |
| 4 | g.186209180A>C | CA358950524 | CYP4V2,KLKB1 | c.1313A>C (p.Glu438Ala) n.548A>C n.6011A>C c.109A>C n.403A>C c.1310A>C (p.Glu437Ala) c.917A>C (p.Glu306Ala) | |
| 4 | g.186209180A>G | CA358950525 | CYP4V2,KLKB1 | c.1313A>G (p.Glu438Gly) n.548A>G n.6011A>G c.109A>G n.403A>G c.1310A>G (p.Glu437Gly) c.917A>G (p.Glu306Gly) | |
| 4 | g.186209180A>T | CA358950526 | CYP4V2,KLKB1 | c.1313A>T (p.Glu438Val) n.548A>T n.6011A>T c.109A>T n.403A>T c.1310A>T (p.Glu437Val) c.917A>T (p.Glu306Val) | |
| 4 | g.186209181G>A | CA3162826 | CYP4V2,KLKB1 | c.1314G>A (p.Glu438=) n.549G>A n.6012G>A c.110G>A n.404G>A c.1311G>A (p.Glu437=) c.918G>A (p.Glu306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209181G>C | CA358950528 | CYP4V2,KLKB1 | c.1314G>C (p.Glu438Asp) n.549G>C n.6012G>C c.110G>C n.404G>C c.1311G>C (p.Glu437Asp) c.918G>C (p.Glu306Asp) | |
| 4 | g.186209181G= | CA1519891451 | CYP4V2,KLKB1 | c.1314G= (p.Glu438=) n.549G= n.6012G= c.110G= n.404G= c.1311G= (p.Glu437=) c.918G= (p.Glu306=) | |
| 4 | g.186209181G>T | CA358950527 | CYP4V2,KLKB1 | c.1314G>T (p.Glu438Asp) n.549G>T n.6012G>T c.110G>T n.404G>T c.1311G>T (p.Glu437Asp) c.918G>T (p.Glu306Asp) | |
| 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) |