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.186209165T>A | CA358950491 | CYP4V2,KLKB1 | c.1298T>A (p.Phe433Tyr) n.533T>A n.5996T>A c.94T>A n.388T>A c.1295T>A (p.Phe432Tyr) c.902T>A (p.Phe301Tyr) | |
4 | g.186209165T>C | CA358950492 | CYP4V2,KLKB1 | c.1298T>C (p.Phe433Ser) n.533T>C n.5996T>C c.94T>C n.388T>C c.1295T>C (p.Phe432Ser) c.902T>C (p.Phe301Ser) | |
4 | g.186209165T>G | CA358950493 | CYP4V2,KLKB1 | c.1298T>G (p.Phe433Cys) n.533T>G n.5996T>G c.94T>G n.388T>G c.1295T>G (p.Phe432Cys) c.902T>G (p.Phe301Cys) | |
4 | g.186209166C>A | CA358950494 | CYP4V2,KLKB1 | c.1299C>A (p.Phe433Leu) n.534C>A n.5997C>A c.95C>A n.389C>A c.1296C>A (p.Phe432Leu) c.903C>A (p.Phe301Leu) | |
4 | g.186209166C= | CA1519891442 | CYP4V2,KLKB1 | c.1299C= (p.Phe433=) n.534C= n.5997C= c.95C= n.389C= c.1296C= (p.Phe432=) c.903C= (p.Phe301=) | |
4 | g.186209166C>G | CA358950495 | CYP4V2,KLKB1 | c.1299C>G (p.Phe433Leu) n.534C>G n.5997C>G c.95C>G n.389C>G c.1296C>G (p.Phe432Leu) c.903C>G (p.Phe301Leu) | |
4 | g.186209166C>T | CA442882550 | CYP4V2,KLKB1 | c.1299C>T (p.Phe433=) n.534C>T n.5997C>T c.95C>T n.389C>T c.1296C>T (p.Phe432=) c.903C>T (p.Phe301=) | dbSNP |
4 | g.186209167C>A | CA358950496 | CYP4V2,KLKB1 | c.1300C>A (p.Pro434Thr) n.535C>A n.5998C>A c.96C>A n.390C>A c.1297C>A (p.Pro433Thr) c.904C>A (p.Pro302Thr) | |
4 | g.186209167C>G | CA358950497 | CYP4V2,KLKB1 | c.1300C>G (p.Pro434Ala) n.535C>G n.5998C>G c.96C>G n.390C>G c.1297C>G (p.Pro433Ala) c.904C>G (p.Pro302Ala) | |
4 | g.186209167C>T | CA358950498 | CYP4V2,KLKB1 | c.1300C>T (p.Pro434Ser) n.535C>T n.5998C>T c.96C>T n.390C>T c.1297C>T (p.Pro433Ser) c.904C>T (p.Pro302Ser) | |
4 | g.186209168C>A | CA358950499 | CYP4V2,KLKB1 | c.1301C>A (p.Pro434His) n.536C>A n.5999C>A c.97C>A n.391C>A c.1298C>A (p.Pro433His) c.905C>A (p.Pro302His) | |
4 | g.186209168C= | CA1519891443 | CYP4V2,KLKB1 | c.1301C= (p.Pro434=) n.536C= n.5999C= c.97C= n.391C= c.1298C= (p.Pro433=) c.905C= (p.Pro302=) | |
4 | g.186209168C>G | CA358950500 | CYP4V2,KLKB1 | c.1301C>G (p.Pro434Arg) n.536C>G n.5999C>G c.97C>G n.391C>G c.1298C>G (p.Pro433Arg) c.905C>G (p.Pro302Arg) | |
4 | g.186209168C>T | CA3162821 | CYP4V2,KLKB1 | c.1301C>T (p.Pro434Leu) n.536C>T n.5999C>T c.97C>T n.391C>T c.1298C>T (p.Pro433Leu) c.905C>T (p.Pro302Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209169C>A | CA442882561 | CYP4V2,KLKB1 | c.1302C>A (p.Pro434=) n.537C>A n.6000C>A c.98C>A n.392C>A c.1299C>A (p.Pro433=) c.906C>A (p.Pro302=) | |
4 | g.186209169C= | CA1519891444 | CYP4V2,KLKB1 | c.1302C= (p.Pro434=) n.537C= n.6000C= c.98C= n.392C= c.1299C= (p.Pro433=) c.906C= (p.Pro302=) | |
4 | g.186209169C>G | CA442882563 | CYP4V2,KLKB1 | c.1302C>G (p.Pro434=) n.537C>G n.6000C>G c.98C>G n.392C>G c.1299C>G (p.Pro433=) c.906C>G (p.Pro302=) | |
4 | g.186209169C>T | CA442882565 | CYP4V2,KLKB1 | c.1302C>T (p.Pro434=) n.537C>T n.6000C>T c.98C>T n.392C>T c.1299C>T (p.Pro433=) c.906C>T (p.Pro302=) | dbSNP |
4 | g.186209170A>C | CA358950503 | CYP4V2,KLKB1 | c.1303A>C (p.Asn435His) n.538A>C n.6001A>C c.99A>C n.393A>C c.1300A>C (p.Asn434His) c.907A>C (p.Asn303His) | |
4 | g.186209170A>G | CA358950501 | CYP4V2,KLKB1 | c.1303A>G (p.Asn435Asp) n.538A>G n.6001A>G c.99A>G n.393A>G c.1300A>G (p.Asn434Asp) c.907A>G (p.Asn303Asp) | |
4 | g.186209170A>T | CA358950502 | CYP4V2,KLKB1 | c.1303A>T (p.Asn435Tyr) n.538A>T n.6001A>T c.99A>T n.393A>T c.1300A>T (p.Asn434Tyr) c.907A>T (p.Asn303Tyr) | |
4 | g.186209171A= | CA1519891445 | CYP4V2,KLKB1 | c.1304A= (p.Asn435=) n.539A= n.6002A= c.100A= n.394A= c.1301A= (p.Asn434=) c.908A= (p.Asn303=) | |
4 | g.186209171A>C | CA358950504 | CYP4V2,KLKB1 | c.1304A>C (p.Asn435Thr) n.539A>C n.6002A>C c.100A>C n.394A>C c.1301A>C (p.Asn434Thr) c.908A>C (p.Asn303Thr) | dbSNP |
4 | g.186209171A>G | CA358950505 | CYP4V2,KLKB1 | c.1304A>G (p.Asn435Ser) n.539A>G n.6002A>G c.100A>G n.394A>G c.1301A>G (p.Asn434Ser) c.908A>G (p.Asn303Ser) | |
4 | g.186209171A>T | CA358950506 | CYP4V2,KLKB1 | c.1304A>T (p.Asn435Ile) n.539A>T n.6002A>T c.100A>T n.394A>T c.1301A>T (p.Asn434Ile) c.908A>T (p.Asn303Ile) | |
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) |