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.186209153A= | CA1519891435 | CYP4V2,KLKB1 | c.1286A= (p.Asp429=) n.521A= n.5984A= c.82A= n.376A= c.1283A= (p.Asp428=) c.890A= (p.Asp297=) | |
4 | g.186209153A>C | CA358950464 | CYP4V2,KLKB1 | c.1286A>C (p.Asp429Ala) n.521A>C n.5984A>C c.82A>C n.376A>C c.1283A>C (p.Asp428Ala) c.890A>C (p.Asp297Ala) | |
4 | g.186209153A>G | CA358950465 | CYP4V2,KLKB1 | c.1286A>G (p.Asp429Gly) n.521A>G n.5984A>G c.82A>G n.376A>G c.1283A>G (p.Asp428Gly) c.890A>G (p.Asp297Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.186209153A>T | CA358950466 | CYP4V2,KLKB1 | c.1286A>T (p.Asp429Val) n.521A>T n.5984A>T c.82A>T n.376A>T c.1283A>T (p.Asp428Val) c.890A>T (p.Asp297Val) | |
4 | g.186209154T>A | CA358950467 | CYP4V2,KLKB1 | c.1287T>A (p.Asp429Glu) n.522T>A n.5985T>A c.83T>A n.377T>A c.1284T>A (p.Asp428Glu) c.891T>A (p.Asp297Glu) | |
4 | g.186209154T>C | CA442882492 | CYP4V2,KLKB1 | c.1287T>C (p.Asp429=) n.522T>C n.5985T>C c.83T>C n.377T>C c.1284T>C (p.Asp428=) c.891T>C (p.Asp297=) | |
4 | g.186209154T>G | CA3162818 | CYP4V2,KLKB1 | c.1287T>G (p.Asp429Glu) n.522T>G n.5985T>G c.83T>G n.377T>G c.1284T>G (p.Asp428Glu) c.891T>G (p.Asp297Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186209154T= | CA1519891436 | CYP4V2,KLKB1 | c.1287T= (p.Asp429=) n.522T= n.5985T= c.83T= n.377T= c.1284T= (p.Asp428=) c.891T= (p.Asp297=) | |
4 | g.186209155C>A | CA358950470 | CYP4V2,KLKB1 | c.1288C>A (p.Pro430Thr) n.523C>A n.5986C>A c.84C>A n.378C>A c.1285C>A (p.Pro429Thr) c.892C>A (p.Pro298Thr) | |
4 | g.186209155C>G | CA358950469 | CYP4V2,KLKB1 | c.1288C>G (p.Pro430Ala) n.523C>G n.5986C>G c.84C>G n.378C>G c.1285C>G (p.Pro429Ala) c.892C>G (p.Pro298Ala) | |
4 | g.186209155C>T | CA358950468 | CYP4V2,KLKB1 | c.1288C>T (p.Pro430Ser) n.523C>T n.5986C>T c.84C>T n.378C>T c.1285C>T (p.Pro429Ser) c.892C>T (p.Pro298Ser) | COSMIC |
4 | g.186209156C>A | CA358950471 | CYP4V2,KLKB1 | c.1289C>A (p.Pro430Gln) n.524C>A n.5987C>A c.85C>A n.379C>A c.1286C>A (p.Pro429Gln) c.893C>A (p.Pro298Gln) | |
4 | g.186209156C= | CA1519891437 | CYP4V2,KLKB1 | c.1289C= (p.Pro430=) n.524C= n.5987C= c.85C= n.379C= c.1286C= (p.Pro429=) c.893C= (p.Pro298=) | |
4 | g.186209156C>G | CA358950472 | CYP4V2,KLKB1 | c.1289C>G (p.Pro430Arg) n.524C>G n.5987C>G c.85C>G n.379C>G c.1286C>G (p.Pro429Arg) c.893C>G (p.Pro298Arg) | |
4 | g.186209156C>T | CA3162819 | CYP4V2,KLKB1 | c.1289C>T (p.Pro430Leu) n.524C>T n.5987C>T c.85C>T n.379C>T c.1286C>T (p.Pro429Leu) c.893C>T (p.Pro298Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209157G>A | CA3162820 | CYP4V2,KLKB1 | c.1290G>A (p.Pro430=) n.525G>A n.5988G>A c.86G>A n.380G>A c.1287G>A (p.Pro429=) c.894G>A (p.Pro298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209157G>C | CA442882508 | CYP4V2,KLKB1 | c.1290G>C (p.Pro430=) n.525G>C n.5988G>C c.86G>C n.380G>C c.1287G>C (p.Pro429=) c.894G>C (p.Pro298=) | dbSNP |
4 | g.186209157G= | CA1519891438 | CYP4V2,KLKB1 | c.1290G= (p.Pro430=) n.525G= n.5988G= c.86G= n.380G= c.1287G= (p.Pro429=) c.894G= (p.Pro298=) | |
4 | g.186209157G>T | CA442882504 | CYP4V2,KLKB1 | c.1290G>T (p.Pro430=) n.525G>T n.5988G>T c.86G>T n.380G>T c.1287G>T (p.Pro429=) c.894G>T (p.Pro298=) | |
4 | g.186209158A>C | CA442882511 | CYP4V2,KLKB1 | c.1291A>C (p.Arg431=) n.526A>C n.5989A>C c.87A>C n.381A>C c.1288A>C (p.Arg430=) c.895A>C (p.Arg299=) | |
4 | g.186209158A>G | CA358950473 | CYP4V2,KLKB1 | c.1291A>G (p.Arg431Gly) n.526A>G n.5989A>G c.87A>G n.381A>G c.1288A>G (p.Arg430Gly) c.895A>G (p.Arg299Gly) | |
4 | g.186209158A>T | CA358950474 | CYP4V2,KLKB1 | c.1291A>T (p.Arg431Ter) n.526A>T n.5989A>T c.87A>T n.381A>T c.1288A>T (p.Arg430Ter) c.895A>T (p.Arg299Ter) | |
4 | g.186209159G>A | CA358950475 | CYP4V2,KLKB1 | c.1292G>A (p.Arg431Lys) n.527G>A n.5990G>A c.88G>A n.382G>A c.1289G>A (p.Arg430Lys) c.896G>A (p.Arg299Lys) | |
4 | g.186209159G>C | CA358950476 | CYP4V2,KLKB1 | c.1292G>C (p.Arg431Thr) n.527G>C n.5990G>C c.88G>C n.382G>C c.1289G>C (p.Arg430Thr) c.896G>C (p.Arg299Thr) | |
4 | g.186209159G>T | CA358950477 | CYP4V2,KLKB1 | c.1292G>T (p.Arg431Ile) n.527G>T n.5990G>T c.88G>T n.382G>T c.1289G>T (p.Arg430Ile) c.896G>T (p.Arg299Ile) | |
4 | g.186209160A>C | CA358950478 | CYP4V2,KLKB1 | c.1293A>C (p.Arg431Ser) n.528A>C n.5991A>C c.89A>C n.383A>C c.1290A>C (p.Arg430Ser) c.897A>C (p.Arg299Ser) | |
4 | g.186209160A>G | CA442882523 | CYP4V2,KLKB1 | c.1293A>G (p.Arg431=) n.528A>G n.5991A>G c.89A>G n.383A>G c.1290A>G (p.Arg430=) c.897A>G (p.Arg299=) | gnomAD v4 |
4 | g.186209160A>T | CA358950479 | CYP4V2,KLKB1 | c.1293A>T (p.Arg431Ser) n.528A>T n.5991A>T c.89A>T n.383A>T c.1290A>T (p.Arg430Ser) c.897A>T (p.Arg299Ser) | |
4 | g.186209161T>A | CA358950482 | CYP4V2,KLKB1 | c.1294T>A (p.Tyr432Asn) n.529T>A n.5992T>A c.90T>A n.384T>A c.1291T>A (p.Tyr431Asn) c.898T>A (p.Tyr300Asn) | |
4 | g.186209161T>C | CA358950481 | CYP4V2,KLKB1 | c.1294T>C (p.Tyr432His) n.529T>C n.5992T>C c.90T>C n.384T>C c.1291T>C (p.Tyr431His) c.898T>C (p.Tyr300His) | dbSNP |
4 | g.186209161T>G | CA358950480 | CYP4V2,KLKB1 | c.1294T>G (p.Tyr432Asp) n.529T>G n.5992T>G c.90T>G n.384T>G c.1291T>G (p.Tyr431Asp) c.898T>G (p.Tyr300Asp) | |
4 | g.186209162A= | CA1519891439 | CYP4V2,KLKB1 | c.1295A= (p.Tyr432=) n.530A= n.5993A= c.91A= n.385A= c.1292A= (p.Tyr431=) c.899A= (p.Tyr300=) | |
4 | g.186209162A>C | CA358950483 | CYP4V2,KLKB1 | c.1295A>C (p.Tyr432Ser) n.530A>C n.5993A>C c.91A>C n.385A>C c.1292A>C (p.Tyr431Ser) c.899A>C (p.Tyr300Ser) | dbSNP gnomAD v4 |
4 | g.186209162A>G | CA358950485 | CYP4V2,KLKB1 | c.1295A>G (p.Tyr432Cys) n.530A>G n.5993A>G c.91A>G n.385A>G c.1292A>G (p.Tyr431Cys) c.899A>G (p.Tyr300Cys) | |
4 | g.186209162A>T | CA358950484 | CYP4V2,KLKB1 | c.1295A>T (p.Tyr432Phe) n.530A>T n.5993A>T c.91A>T n.385A>T c.1292A>T (p.Tyr431Phe) c.899A>T (p.Tyr300Phe) | |
4 | g.186209163C>A | CA358950486 | CYP4V2,KLKB1 | c.1296C>A (p.Tyr432Ter) n.531C>A n.5994C>A c.92C>A n.386C>A c.1293C>A (p.Tyr431Ter) c.900C>A (p.Tyr300Ter) | |
4 | g.186209163C= | CA1519891440 | CYP4V2,KLKB1 | c.1296C= (p.Tyr432=) n.531C= n.5994C= c.92C= n.386C= c.1293C= (p.Tyr431=) c.900C= (p.Tyr300=) | |
4 | g.186209163C>G | CA358950487 | CYP4V2,KLKB1 | c.1296C>G (p.Tyr432Ter) n.531C>G n.5994C>G c.92C>G n.386C>G c.1293C>G (p.Tyr431Ter) c.900C>G (p.Tyr300Ter) | |
4 | g.186209163C>T | CA442882540 | CYP4V2,KLKB1 | c.1296C>T (p.Tyr432=) n.531C>T n.5994C>T c.92C>T n.386C>T c.1293C>T (p.Tyr431=) c.900C>T (p.Tyr300=) | dbSNP |
4 | g.186209164T>A | CA358950488 | CYP4V2,KLKB1 | c.1297T>A (p.Phe433Ile) n.532T>A n.5995T>A c.93T>A n.387T>A c.1294T>A (p.Phe432Ile) c.901T>A (p.Phe301Ile) | |
4 | g.186209164T>C | CA358950490 | CYP4V2,KLKB1 | c.1297T>C (p.Phe433Leu) n.532T>C n.5995T>C c.93T>C n.387T>C c.1294T>C (p.Phe432Leu) c.901T>C (p.Phe301Leu) | ClinVar dbSNP gnomAD v4 |
4 | g.186209164T>G | CA358950489 | CYP4V2,KLKB1 | c.1297T>G (p.Phe433Val) n.532T>G n.5995T>G c.93T>G n.387T>G c.1294T>G (p.Phe432Val) c.901T>G (p.Phe301Val) | |
4 | g.186209164T= | CA1519891441 | CYP4V2,KLKB1 | c.1297T= (p.Phe433=) n.532T= n.5995T= c.93T= n.387T= c.1294T= (p.Phe432=) c.901T= (p.Phe301=) | |
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.186209176del | CA2764868835 | CYP4V2,KLKB1 | c.1309del (p.Glu437ArgfsTer?) n.544del n.6007del c.105del n.399del c.1306del (p.Glu436ArgfsTer?) c.913del (p.Glu305ArgfsTer?) | |
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) | |
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) | |
4 | g.186209196G>A | CA3162831 | CYP4V2,KLKB1 | c.1329G>A (p.Arg443=) n.564G>A n.6027G>A c.125G>A n.419G>A c.1326G>A (p.Arg442=) c.933G>A (p.Arg311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209196G>C | CA442882686 | CYP4V2,KLKB1 | c.1329G>C (p.Arg443=) n.564G>C n.6027G>C c.125G>C n.419G>C c.1326G>C (p.Arg442=) c.933G>C (p.Arg311=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186209196G= | CA1519891460 | CYP4V2,KLKB1 | c.1329G= (p.Arg443=) n.564G= n.6027G= c.125G= n.419G= c.1326G= (p.Arg442=) c.933G= (p.Arg311=) | |
4 | g.186209196G>T | CA442882691 | CYP4V2,KLKB1 | c.1329G>T (p.Arg443=) n.564G>T n.6027G>T c.125G>T n.419G>T c.1326G>T (p.Arg442=) c.933G>T (p.Arg311=) | |
4 | g.186209197T>A | CA358950560 | CYP4V2,KLKB1 | c.1330T>A (p.Phe444Ile) n.565T>A n.6028T>A c.126T>A n.420T>A c.1327T>A (p.Phe443Ile) c.934T>A (p.Phe312Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209197T>C | CA358950561 | CYP4V2,KLKB1 | c.1330T>C (p.Phe444Leu) n.565T>C n.6028T>C c.126T>C n.420T>C c.1327T>C (p.Phe443Leu) c.934T>C (p.Phe312Leu) | |
4 | g.186209197T>G | CA358950562 | CYP4V2,KLKB1 | c.1330T>G (p.Phe444Val) n.565T>G n.6028T>G c.126T>G n.420T>G c.1327T>G (p.Phe443Val) c.934T>G (p.Phe312Val) | |
4 | g.186209197T= | CA1519891461 | CYP4V2,KLKB1 | c.1330T= (p.Phe444=) n.565T= n.6028T= c.126T= n.420T= c.1327T= (p.Phe443=) c.934T= (p.Phe312=) | |
4 | g.186209198T>A | CA358950563 | CYP4V2,KLKB1 | c.1331T>A (p.Phe444Tyr) n.566T>A n.6029T>A c.127T>A n.421T>A c.1328T>A (p.Phe443Tyr) c.935T>A (p.Phe312Tyr) | |
4 | g.186209198T>C | CA358950564 | CYP4V2,KLKB1 | c.1331T>C (p.Phe444Ser) n.566T>C n.6029T>C c.127T>C n.421T>C c.1328T>C (p.Phe443Ser) c.935T>C (p.Phe312Ser) | gnomAD v4 |
4 | g.186209198T>G | CA358950565 | CYP4V2,KLKB1 | c.1331T>G (p.Phe444Cys) n.566T>G n.6029T>G c.127T>G n.421T>G c.1328T>G (p.Phe443Cys) c.935T>G (p.Phe312Cys) | |
4 | g.186209199C>A | CA358950567 | CYP4V2,KLKB1 | c.1332C>A (p.Phe444Leu) n.567C>A n.6030C>A c.128C>A n.422C>A c.1329C>A (p.Phe443Leu) c.936C>A (p.Phe312Leu) | |
4 | g.186209199C= | CA1519891462 | CYP4V2,KLKB1 | c.1332C= (p.Phe444=) n.567C= n.6030C= c.128C= n.422C= c.1329C= (p.Phe443=) c.936C= (p.Phe312=) | |
4 | g.186209199C>G | CA358950566 | CYP4V2,KLKB1 | c.1332C>G (p.Phe444Leu) n.567C>G n.6030C>G c.128C>G n.422C>G c.1329C>G (p.Phe443Leu) c.936C>G (p.Phe312Leu) | |
4 | g.186209199C>T | CA442882704 | CYP4V2,KLKB1 | c.1332C>T (p.Phe444=) n.567C>T n.6030C>T c.128C>T n.422C>T c.1329C>T (p.Phe443=) c.936C>T (p.Phe312=) | dbSNP COSMIC |
4 | g.186209200T>A | CA358950568 | CYP4V2,KLKB1 | c.1333T>A (p.Phe445Ile) n.568T>A n.6031T>A c.129T>A n.423T>A c.1330T>A (p.Phe444Ile) c.937T>A (p.Phe313Ile) | COSMIC |
4 | g.186209200T>C | CA358950569 | CYP4V2,KLKB1 | c.1333T>C (p.Phe445Leu) n.568T>C n.6031T>C c.129T>C n.423T>C c.1330T>C (p.Phe444Leu) c.937T>C (p.Phe313Leu) | dbSNP |
4 | g.186209200T>G | CA358950570 | CYP4V2,KLKB1 | c.1333T>G (p.Phe445Val) n.568T>G n.6031T>G c.129T>G n.423T>G c.1330T>G (p.Phe444Val) c.937T>G (p.Phe313Val) | |
4 | g.186209200T= | CA1519891463 | CYP4V2,KLKB1 | c.1333T= (p.Phe445=) n.568T= n.6031T= c.129T= n.423T= c.1330T= (p.Phe444=) c.937T= (p.Phe313=) | |
4 | g.186209201del | CA442882710 | CYP4V2,KLKB1 | c.1334del (p.Phe445SerfsTer24) n.569del n.6032del c.130del n.424del c.1331del (p.Phe444SerfsTer24) c.938del (p.Phe313SerfsTer24) | COSMIC |
4 | g.186209201T>A | CA358950571 | CYP4V2,KLKB1 | c.1334T>A (p.Phe445Tyr) n.569T>A n.6032T>A c.130T>A n.424T>A c.1331T>A (p.Phe444Tyr) c.938T>A (p.Phe313Tyr) | |
4 | g.186209201T>C | CA358950572 | CYP4V2,KLKB1 | c.1334T>C (p.Phe445Ser) n.569T>C n.6032T>C c.130T>C n.424T>C c.1331T>C (p.Phe444Ser) c.938T>C (p.Phe313Ser) | dbSNP |
4 | g.186209201T>G | CA358950573 | CYP4V2,KLKB1 | c.1334T>G (p.Phe445Cys) n.569T>G n.6032T>G c.130T>G n.424T>G c.1331T>G (p.Phe444Cys) c.938T>G (p.Phe313Cys) | |
4 | g.186209201T= | CA1519891465 | CYP4V2,KLKB1 | c.1334T= (p.Phe445=) n.569T= n.6032T= c.130T= n.424T= c.1331T= (p.Phe444=) c.938T= (p.Phe313=) | |
4 | g.186209201_186209202delinsTC | CA1519891464 | CYP4V2,KLKB1 | c.1334_1335delinsTC (p.Phe445=) n.569_570delinsTC n.6032_6033delinsTC c.130_131delinsTC n.424_425delinsTC c.1331_1332delinsTC (p.Phe444=) c.938_939delinsTC (p.Phe313=) | |
4 | g.186209202C>A | CA358950574 | CYP4V2,KLKB1 | c.1335C>A (p.Phe445Leu) n.570C>A n.6033C>A c.131C>A n.425C>A c.1332C>A (p.Phe444Leu) c.939C>A (p.Phe313Leu) | |
4 | g.186209202C>G | CA358950575 | CYP4V2,KLKB1 | c.1335C>G (p.Phe445Leu) n.570C>G n.6033C>G c.131C>G n.425C>G c.1332C>G (p.Phe444Leu) c.939C>G (p.Phe313Leu) | |
4 | g.186209202C>T | CA442882718 | CYP4V2,KLKB1 | c.1335C>T (p.Phe445=) n.570C>T n.6033C>T c.131C>T n.425C>T c.1332C>T (p.Phe444=) c.939C>T (p.Phe313=) | COSMIC |
4 | g.186209205dup | CA1519891466 | CYP4V2,KLKB1 | c.1338dup (p.Glu447ArgfsTer?) n.573dup n.6036dup c.134dup n.428dup c.1335dup (p.Glu446ArgfsTer?) c.942dup (p.Glu315ArgfsTer?) | dbSNP |
4 | g.186209205del | CA3162832 | CYP4V2,KLKB1 | c.1338del (p.Glu447ArgfsTer22) n.573del n.6036del c.134del n.428del c.1335del (p.Glu446ArgfsTer22) c.942del (p.Glu315ArgfsTer22) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209203C>A | CA358950576 | CYP4V2,KLKB1 | c.1336C>A (p.Pro446Thr) n.571C>A n.6034C>A c.132C>A n.426C>A c.1333C>A (p.Pro445Thr) c.940C>A (p.Pro314Thr) | |
4 | g.186209203C>G | CA358950577 | CYP4V2,KLKB1 | c.1336C>G (p.Pro446Ala) n.571C>G n.6034C>G c.132C>G n.426C>G c.1333C>G (p.Pro445Ala) c.940C>G (p.Pro314Ala) | |
4 | g.186209203C>T | CA358950578 | CYP4V2,KLKB1 | c.1336C>T (p.Pro446Ser) n.571C>T n.6034C>T c.132C>T n.426C>T c.1333C>T (p.Pro445Ser) c.940C>T (p.Pro314Ser) | gnomAD v4 COSMIC |
4 | g.186209204C>A | CA358950580 | CYP4V2,KLKB1 | c.1337C>A (p.Pro446His) n.572C>A n.6035C>A c.133C>A n.427C>A c.1334C>A (p.Pro445His) c.941C>A (p.Pro314His) | |
4 | g.186209204C= | CA1519891467 | CYP4V2,KLKB1 | c.1337C= (p.Pro446=) n.572C= n.6035C= c.133C= n.427C= c.1334C= (p.Pro445=) c.941C= (p.Pro314=) | |
4 | g.186209204C>G | CA358950581 | CYP4V2,KLKB1 | c.1337C>G (p.Pro446Arg) n.572C>G n.6035C>G c.133C>G n.427C>G c.1334C>G (p.Pro445Arg) c.941C>G (p.Pro314Arg) | gnomAD v4 |
4 | g.186209204C>T | CA358950579 | CYP4V2,KLKB1 | c.1337C>T (p.Pro446Leu) n.572C>T n.6035C>T c.133C>T n.427C>T c.1334C>T (p.Pro445Leu) c.941C>T (p.Pro314Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186209205C>A | CA442882731 | CYP4V2,KLKB1 | c.1338C>A (p.Pro446=) n.573C>A n.6036C>A c.134C>A n.428C>A c.1335C>A (p.Pro445=) c.942C>A (p.Pro314=) | |
4 | g.186209205C= | CA1519891468 | CYP4V2,KLKB1 | c.1338C= (p.Pro446=) n.573C= n.6036C= c.134C= n.428C= c.1335C= (p.Pro445=) c.942C= (p.Pro314=) | |
4 | g.186209205C>G | CA3162833 | CYP4V2,KLKB1 | c.1338C>G (p.Pro446=) n.573C>G n.6036C>G c.134C>G n.428C>G c.1335C>G (p.Pro445=) c.942C>G (p.Pro314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209205C>T | CA3162834 | CYP4V2,KLKB1 | c.1338C>T (p.Pro446=) n.573C>T n.6036C>T c.134C>T n.428C>T c.1335C>T (p.Pro445=) c.942C>T (p.Pro314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209206G>A | CA3162835 | CYP4V2,KLKB1 | c.1339G>A (p.Glu447Lys) n.574G>A n.6037G>A c.135G>A n.429G>A c.1336G>A (p.Glu446Lys) c.943G>A (p.Glu315Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209206G>C | CA358950582 | CYP4V2,KLKB1 | c.1339G>C (p.Glu447Gln) n.574G>C n.6037G>C c.135G>C n.429G>C c.1336G>C (p.Glu446Gln) c.943G>C (p.Glu315Gln) | |
4 | g.186209206G= | CA1519891469 | CYP4V2,KLKB1 | c.1339G= (p.Glu447=) n.574G= n.6037G= c.135G= n.429G= c.1336G= (p.Glu446=) c.943G= (p.Glu315=) | |
4 | g.186209206G>T | CA358950583 | CYP4V2,KLKB1 | c.1339G>T (p.Glu447Ter) n.574G>T n.6037G>T c.135G>T n.429G>T c.1336G>T (p.Glu446Ter) c.943G>T (p.Glu315Ter) | |
4 | g.186209207A>C | CA358950586 | CYP4V2,KLKB1 | c.1340A>C (p.Glu447Ala) n.575A>C n.6038A>C c.136A>C n.430A>C c.1337A>C (p.Glu446Ala) c.944A>C (p.Glu315Ala) | |
4 | g.186209207A>G | CA358950584 | CYP4V2,KLKB1 | c.1340A>G (p.Glu447Gly) n.575A>G n.6038A>G c.136A>G n.430A>G c.1337A>G (p.Glu446Gly) c.944A>G (p.Glu315Gly) | |
4 | g.186209207A>T | CA358950585 | CYP4V2,KLKB1 | c.1340A>T (p.Glu447Val) n.575A>T n.6038A>T c.136A>T n.430A>T c.1337A>T (p.Glu446Val) c.944A>T (p.Glu315Val) | |
4 | g.186209208G>A | CA442882744 | CYP4V2,KLKB1 | c.1341G>A (p.Glu447=) n.576G>A n.6039G>A c.137G>A n.431G>A c.1338G>A (p.Glu446=) c.945G>A (p.Glu315=) | gnomAD v4 |
4 | g.186209208G>C | CA358950587 | CYP4V2,KLKB1 | c.1341G>C (p.Glu447Asp) n.576G>C n.6039G>C c.137G>C n.431G>C c.1338G>C (p.Glu446Asp) c.945G>C (p.Glu315Asp) | |
4 | g.186209208G>T | CA358950588 | CYP4V2,KLKB1 | c.1341G>T (p.Glu447Asp) n.576G>T n.6039G>T c.137G>T n.431G>T c.1338G>T (p.Glu446Asp) c.945G>T (p.Glu315Asp) | |
4 | g.186209209A>C | CA358950589 | CYP4V2,KLKB1 | c.1342A>C (p.Asn448His) n.577A>C n.6040A>C c.138A>C n.432A>C c.1339A>C (p.Asn447His) c.946A>C (p.Asn316His) | |
4 | g.186209209A>G | CA358950590 | CYP4V2,KLKB1 | c.1342A>G (p.Asn448Asp) n.577A>G n.6040A>G c.138A>G n.432A>G c.1339A>G (p.Asn447Asp) c.946A>G (p.Asn316Asp) | |
4 | g.186209209A>T | CA358950591 | CYP4V2,KLKB1 | c.1342A>T (p.Asn448Tyr) n.577A>T n.6040A>T c.138A>T n.432A>T c.1339A>T (p.Asn447Tyr) c.946A>T (p.Asn316Tyr) | |
4 | g.186209210A>C | CA358950594 | CYP4V2,KLKB1 | c.1343A>C (p.Asn448Thr) n.578A>C n.6041A>C c.139A>C n.433A>C c.1340A>C (p.Asn447Thr) c.947A>C (p.Asn316Thr) | |
4 | g.186209210A>G | CA358950593 | CYP4V2,KLKB1 | c.1343A>G (p.Asn448Ser) n.578A>G n.6041A>G c.139A>G n.433A>G c.1340A>G (p.Asn447Ser) c.947A>G (p.Asn316Ser) | gnomAD v4 |
4 | g.186209210A>T | CA358950592 | CYP4V2,KLKB1 | c.1343A>T (p.Asn448Ile) n.578A>T n.6041A>T c.139A>T n.433A>T c.1340A>T (p.Asn447Ile) c.947A>T (p.Asn316Ile) | |
4 | g.186209211T>A | CA358950595 | CYP4V2,KLKB1 | c.1344T>A (p.Asn448Lys) n.579T>A n.6042T>A c.140T>A n.434T>A c.1341T>A (p.Asn447Lys) c.948T>A (p.Asn316Lys) | |
4 | g.186209211T>C | CA3162836 | CYP4V2,KLKB1 | c.1344T>C (p.Asn448=) n.579T>C n.6042T>C c.140T>C n.434T>C c.1341T>C (p.Asn447=) c.948T>C (p.Asn316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209211T>G | CA358950596 | CYP4V2,KLKB1 | c.1344T>G (p.Asn448Lys) n.579T>G n.6042T>G c.140T>G n.434T>G c.1341T>G (p.Asn447Lys) c.948T>G (p.Asn316Lys) | |
4 | g.186209211T= | CA1519891470 | CYP4V2,KLKB1 | c.1344T= (p.Asn448=) n.579T= n.6042T= c.140T= n.434T= c.1341T= (p.Asn447=) c.948T= (p.Asn316=) | |
4 | g.186209212G>A | CA358950597 | CYP4V2,KLKB1 | c.1345G>A (p.Ala449Thr) n.580G>A n.6043G>A c.141G>A n.435G>A c.1342G>A (p.Ala448Thr) c.949G>A (p.Ala317Thr) | ClinVar gnomAD v4 |
4 | g.186209212G>C | CA358950599 | CYP4V2,KLKB1 | c.1345G>C (p.Ala449Pro) n.580G>C n.6043G>C c.141G>C n.435G>C c.1342G>C (p.Ala448Pro) c.949G>C (p.Ala317Pro) | |
4 | g.186209212G>T | CA358950598 | CYP4V2,KLKB1 | c.1345G>T (p.Ala449Ser) n.580G>T n.6043G>T c.141G>T n.435G>T c.1342G>T (p.Ala448Ser) c.949G>T (p.Ala317Ser) | |
4 | g.186209213C>A | CA358950600 | CYP4V2,KLKB1 | c.1346C>A (p.Ala449Glu) n.581C>A n.6044C>A c.142C>A n.436C>A c.1343C>A (p.Ala448Glu) c.950C>A (p.Ala317Glu) | |
4 | g.186209213C>G | CA358950601 | CYP4V2,KLKB1 | c.1346C>G (p.Ala449Gly) n.581C>G n.6044C>G c.142C>G n.436C>G c.1343C>G (p.Ala448Gly) c.950C>G (p.Ala317Gly) | |
4 | g.186209213C>T | CA358950602 | CYP4V2,KLKB1 | c.1346C>T (p.Ala449Val) n.581C>T n.6044C>T c.142C>T n.436C>T c.1343C>T (p.Ala448Val) c.950C>T (p.Ala317Val) | |
4 | g.186209214A= | CA1519891471 | CYP4V2,KLKB1 | c.1347A= (p.Ala449=) n.582A= n.6045A= c.143A= n.437A= c.1344A= (p.Ala448=) c.951A= (p.Ala317=) | |
4 | g.186209214A>C | CA442882766 | CYP4V2,KLKB1 | c.1347A>C (p.Ala449=) n.582A>C n.6045A>C c.143A>C n.437A>C c.1344A>C (p.Ala448=) c.951A>C (p.Ala317=) | dbSNP gnomAD v4 |
4 | g.186209214A>G | CA442882768 | CYP4V2,KLKB1 | c.1347A>G (p.Ala449=) n.582A>G n.6045A>G c.143A>G n.437A>G c.1344A>G (p.Ala448=) c.951A>G (p.Ala317=) | |
4 | g.186209214A>T | CA442882770 | CYP4V2,KLKB1 | c.1347A>T (p.Ala449=) n.582A>T n.6045A>T c.143A>T n.437A>T c.1344A>T (p.Ala448=) c.951A>T (p.Ala317=) | |
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.186209221_186209222insAAATAAAGGAACAGAAGGAAAAAGGCGAAG | CA2764868866 | CYP4V2,KLKB1 | c.1354_1355insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (p.Arg452delinsGlnIleLysGluGlnLysGluLysGlyGluGly) n.589_590insAAATAAAGGAACAGAAGGAAAAAGGCGAAG n.6052_6053insAAATAAAGGAACAGAAGGAAAAAGGCGAAG c.150_151insAAATAAAGGAACAGAAGGAAAAAGGCGAAG n.444_445insAAATAAAGGAACAGAAGGAAAAAGGCGAAG c.1351_1352insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (p.Arg451delinsGlnIleLysGluGlnLysGluLysGlyGluGly) c.958_959insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (p.Arg320delinsGlnIleLysGluGlnLysGluLysGlyGluGly) | |
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) | |
4 | g.186209234C= | CA1519891483 | CYP4V2,KLKB1 | c.1367C= (p.Ala456=) n.602C= n.6065C= c.163C= n.457C= c.1364C= (p.Ala455=) c.971C= (p.Ala324=) | |
4 | g.186209234C>G | CA3162842 | CYP4V2,KLKB1 | c.1367C>G (p.Ala456Gly) n.602C>G n.6065C>G c.163C>G n.457C>G c.1364C>G (p.Ala455Gly) c.971C>G (p.Ala324Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209234C>T | CA358950644 | CYP4V2,KLKB1 | c.1367C>T (p.Ala456Val) n.602C>T n.6065C>T c.163C>T n.457C>T c.1364C>T (p.Ala455Val) c.971C>T (p.Ala324Val) | |
4 | g.186209235C>A | CA442882862 | CYP4V2,KLKB1 | c.1368C>A (p.Ala456=) n.603C>A n.6066C>A c.164C>A n.458C>A c.1365C>A (p.Ala455=) c.972C>A (p.Ala324=) | |
4 | g.186209235C>G | CA442882864 | CYP4V2,KLKB1 | c.1368C>G (p.Ala456=) n.603C>G n.6066C>G c.164C>G n.458C>G c.1365C>G (p.Ala455=) c.972C>G (p.Ala324=) | |
4 | g.186209235C>T | CA442882866 | CYP4V2,KLKB1 | c.1368C>T (p.Ala456=) n.603C>T n.6066C>T c.164C>T n.458C>T c.1365C>T (p.Ala455=) c.972C>T (p.Ala324=) | ClinVar dbSNP |
4 | g.186209236T>A | CA358950645 | CYP4V2,KLKB1 | c.1369T>A (p.Tyr457Asn) n.604T>A n.6067T>A c.165T>A n.459T>A c.1366T>A (p.Tyr456Asn) c.973T>A (p.Tyr325Asn) | |
4 | g.186209236T>C | CA358950646 | CYP4V2,KLKB1 | c.1369T>C (p.Tyr457His) n.604T>C n.6067T>C c.165T>C n.459T>C c.1366T>C (p.Tyr456His) c.973T>C (p.Tyr325His) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186209236T>G | CA358950647 | CYP4V2,KLKB1 | c.1369T>G (p.Tyr457Asp) n.604T>G n.6067T>G c.165T>G n.459T>G c.1366T>G (p.Tyr456Asp) c.973T>G (p.Tyr325Asp) | |
4 | g.186209236T= | CA1519891484 | CYP4V2,KLKB1 | c.1369T= (p.Tyr457=) n.604T= n.6067T= c.165T= n.459T= c.1366T= (p.Tyr456=) c.973T= (p.Tyr325=) | |
4 | g.186209237A= | CA1519891485 | CYP4V2,KLKB1 | c.1370A= (p.Tyr457=) n.605A= n.6068A= c.166A= n.460A= c.1367A= (p.Tyr456=) c.974A= (p.Tyr325=) | |
4 | g.186209237A>C | CA358950649 | CYP4V2,KLKB1 | c.1370A>C (p.Tyr457Ser) n.605A>C n.6068A>C c.166A>C n.460A>C c.1367A>C (p.Tyr456Ser) c.974A>C (p.Tyr325Ser) | |
4 | g.186209237A>G | CA3162843 | CYP4V2,KLKB1 | c.1370A>G (p.Tyr457Cys) n.605A>G n.6068A>G c.166A>G n.460A>G c.1367A>G (p.Tyr456Cys) c.974A>G (p.Tyr325Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186209237A>T | CA358950648 | CYP4V2,KLKB1 | c.1370A>T (p.Tyr457Phe) n.605A>T n.6068A>T c.166A>T n.460A>T c.1367A>T (p.Tyr456Phe) c.974A>T (p.Tyr325Phe) | gnomAD v4 |
4 | g.186209237dup | CA2672897762 | CYP4V2,KLKB1 | c.1370dup (p.Tyr457Ter) n.605dup n.6068dup c.166dup n.460dup c.1367dup (p.Tyr456Ter) c.974dup (p.Tyr325Ter) | gnomAD v4 |
4 | g.186209238C>A | CA358950650 | CYP4V2,KLKB1 | c.1371C>A (p.Tyr457Ter) n.606C>A n.6069C>A c.167C>A n.461C>A c.1368C>A (p.Tyr456Ter) c.975C>A (p.Tyr325Ter) | |
4 | g.186209238C= | CA1519891486 | CYP4V2,KLKB1 | c.1371C= (p.Tyr457=) n.606C= n.6069C= c.167C= n.461C= c.1368C= (p.Tyr456=) c.975C= (p.Tyr325=) | |
4 | g.186209238C>G | CA358950651 | CYP4V2,KLKB1 | c.1371C>G (p.Tyr457Ter) n.606C>G n.6069C>G c.167C>G n.461C>G c.1368C>G (p.Tyr456Ter) c.975C>G (p.Tyr325Ter) | |
4 | g.186209238C>T | CA3162844 | CYP4V2,KLKB1 | c.1371C>T (p.Tyr457=) n.606C>T n.6069C>T c.167C>T n.461C>T c.1368C>T (p.Tyr456=) c.975C>T (p.Tyr325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209239G>A | CA3162845 | CYP4V2,KLKB1 | c.1372G>A (p.Val458Met) n.607G>A n.6070G>A c.168G>A n.462G>A c.1369G>A (p.Val457Met) c.976G>A (p.Val326Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209239G>C | CA358950652 | CYP4V2,KLKB1 | c.1372G>C (p.Val458Leu) n.607G>C n.6070G>C c.168G>C n.462G>C c.1369G>C (p.Val457Leu) c.976G>C (p.Val326Leu) | |
4 | g.186209239G= | CA1519891487 | CYP4V2,KLKB1 | c.1372G= (p.Val458=) n.607G= n.6070G= c.168G= n.462G= c.1369G= (p.Val457=) c.976G= (p.Val326=) | |
4 | g.186209239G>T | CA358950653 | CYP4V2,KLKB1 | c.1372G>T (p.Val458Leu) n.607G>T n.6070G>T c.168G>T n.462G>T c.1369G>T (p.Val457Leu) c.976G>T (p.Val326Leu) | |
4 | g.186209240T>A | CA358950654 | CYP4V2,KLKB1 | c.1373T>A (p.Val458Glu) n.608T>A n.6071T>A c.169T>A n.463T>A c.1370T>A (p.Val457Glu) c.977T>A (p.Val326Glu) | |
4 | g.186209240T>C | CA358950655 | CYP4V2,KLKB1 | c.1373T>C (p.Val458Ala) n.608T>C n.6071T>C c.169T>C n.463T>C c.1370T>C (p.Val457Ala) c.977T>C (p.Val326Ala) | |
4 | g.186209240T>G | CA358950656 | CYP4V2,KLKB1 | c.1373T>G (p.Val458Gly) n.608T>G n.6071T>G c.169T>G n.463T>G c.1370T>G (p.Val457Gly) c.977T>G (p.Val326Gly) | |
4 | g.186209241G>A | CA442882889 | CYP4V2,KLKB1 | c.1374G>A (p.Val458=) n.609G>A n.6072G>A c.170G>A n.464G>A c.1371G>A (p.Val457=) c.978G>A (p.Val326=) | gnomAD v4 |
4 | g.186209241G>C | CA442882890 | CYP4V2,KLKB1 | c.1374G>C (p.Val458=) n.609G>C n.6072G>C c.170G>C n.464G>C c.1371G>C (p.Val457=) c.978G>C (p.Val326=) | |
4 | g.186209241G>T | CA442882892 | CYP4V2,KLKB1 | c.1374G>T (p.Val458=) n.609G>T n.6072G>T c.170G>T n.464G>T c.1371G>T (p.Val457=) c.978G>T (p.Val326=) | gnomAD v4 |
4 | g.186209242C>A | CA358950657 | CYP4V2,KLKB1 | c.1375C>A (p.Pro459Thr) n.610C>A n.6073C>A c.171C>A n.465C>A c.1372C>A (p.Pro458Thr) c.979C>A (p.Pro327Thr) | gnomAD v4 |
4 | g.186209242C= | CA1519891488 | CYP4V2,KLKB1 | c.1375C= (p.Pro459=) n.610C= n.6073C= c.171C= n.465C= c.1372C= (p.Pro458=) c.979C= (p.Pro327=) | |
4 | g.186209242C>G | CA358950658 | CYP4V2,KLKB1 | c.1375C>G (p.Pro459Ala) n.610C>G n.6073C>G c.171C>G n.465C>G c.1372C>G (p.Pro458Ala) c.979C>G (p.Pro327Ala) | |
4 | g.186209242C>T | CA358950659 | CYP4V2,KLKB1 | c.1375C>T (p.Pro459Ser) n.610C>T n.6073C>T c.171C>T n.465C>T c.1372C>T (p.Pro458Ser) c.979C>T (p.Pro327Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
4 | g.186209243C>A | CA358950660 | CYP4V2,KLKB1 | c.1376C>A (p.Pro459His) n.611C>A n.6074C>A c.172C>A n.466C>A c.1373C>A (p.Pro458His) c.980C>A (p.Pro327His) | ClinVar dbSNP |
4 | g.186209243C= | CA1519891489 | CYP4V2,KLKB1 | c.1376C= (p.Pro459=) n.611C= n.6074C= c.172C= n.466C= c.1373C= (p.Pro458=) c.980C= (p.Pro327=) | |
4 | g.186209243C>G | CA358950661 | CYP4V2,KLKB1 | c.1376C>G (p.Pro459Arg) n.611C>G n.6074C>G c.172C>G n.466C>G c.1373C>G (p.Pro458Arg) c.980C>G (p.Pro327Arg) | |
4 | g.186209243C>T | CA358950662 | CYP4V2,KLKB1 | c.1376C>T (p.Pro459Leu) n.611C>T n.6074C>T c.172C>T n.466C>T c.1373C>T (p.Pro458Leu) c.980C>T (p.Pro327Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.186209243_186209246delinsCCTT | CA1519891490 | CYP4V2,KLKB1 | c.1376_1379delinsCCTT (p.Pro459=) n.611_614delinsCCTT n.6074_6077delinsCCTT c.172_175delinsCCTT n.466_469delinsCCTT c.1373_1376delinsCCTT (p.Pro458=) c.980_983delinsCCTT (p.Pro327=) | |
4 | g.186209244C>A | CA442882902 | CYP4V2,KLKB1 | c.1377C>A (p.Pro459=) n.612C>A n.6075C>A c.173C>A n.467C>A c.1374C>A (p.Pro458=) c.981C>A (p.Pro327=) | |
4 | g.186209244C>G | CA442882906 | CYP4V2,KLKB1 | c.1377C>G (p.Pro459=) n.612C>G n.6075C>G c.173C>G n.467C>G c.1374C>G (p.Pro458=) c.981C>G (p.Pro327=) | |
4 | g.186209244C>T | CA442882904 | CYP4V2,KLKB1 | c.1377C>T (p.Pro459=) n.612C>T n.6075C>T c.173C>T n.467C>T c.1374C>T (p.Pro458=) c.981C>T (p.Pro327=) | ClinVar |
4 | g.186209246_186209248del | CA792328541 | CYP4V2,KLKB1 | c.1379_1381del (p.Phe460del) n.614_616del n.6077_6079del c.175_177del n.469_471del c.1376_1378del (p.Phe459del) c.983_985del (p.Phe328del) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186209245T>A | CA358950665 | CYP4V2,KLKB1 | c.1378T>A (p.Phe460Ile) n.613T>A n.6076T>A c.174T>A n.468T>A c.1375T>A (p.Phe459Ile) c.982T>A (p.Phe328Ile) | |
4 | g.186209245T>C | CA358950663 | CYP4V2,KLKB1 | c.1378T>C (p.Phe460Leu) n.613T>C n.6076T>C c.174T>C n.468T>C c.1375T>C (p.Phe459Leu) c.982T>C (p.Phe328Leu) | ClinVar dbSNP gnomAD v4 |
4 | g.186209245T>G | CA358950664 | CYP4V2,KLKB1 | c.1378T>G (p.Phe460Val) n.613T>G n.6076T>G c.174T>G n.468T>G c.1375T>G (p.Phe459Val) c.982T>G (p.Phe328Val) | |
4 | g.186209245T= | CA1519891491 | CYP4V2,KLKB1 | c.1378T= (p.Phe460=) n.613T= n.6076T= c.174T= n.468T= c.1375T= (p.Phe459=) c.982T= (p.Phe328=) | |
4 | g.186209246T>A | CA358950666 | CYP4V2,KLKB1 | c.1379T>A (p.Phe460Tyr) n.614T>A n.6077T>A c.175T>A n.469T>A c.1376T>A (p.Phe459Tyr) c.983T>A (p.Phe328Tyr) | |
4 | g.186209246T>C | CA3162846 | CYP4V2,KLKB1 | c.1379T>C (p.Phe460Ser) n.614T>C n.6077T>C c.175T>C n.469T>C c.1376T>C (p.Phe459Ser) c.983T>C (p.Phe328Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186209246T>G | CA358950667 | CYP4V2,KLKB1 | c.1379T>G (p.Phe460Cys) n.614T>G n.6077T>G c.175T>G n.469T>G c.1376T>G (p.Phe459Cys) c.983T>G (p.Phe328Cys) | |
4 | g.186209246T= | CA1519891492 | CYP4V2,KLKB1 | c.1379T= (p.Phe460=) n.614T= n.6077T= c.175T= n.469T= c.1376T= (p.Phe459=) c.983T= (p.Phe328=) | |
4 | g.186209247C>A | CA358950668 | CYP4V2,KLKB1 | c.1380C>A (p.Phe460Leu) n.615C>A n.6078C>A c.176C>A n.470C>A c.1377C>A (p.Phe459Leu) c.984C>A (p.Phe328Leu) | |
4 | g.186209247C= | CA1519891493 | CYP4V2,KLKB1 | c.1380C= (p.Phe460=) n.615C= n.6078C= c.176C= n.470C= c.1377C= (p.Phe459=) c.984C= (p.Phe328=) | |
4 | g.186209247C>G | CA358950669 | CYP4V2,KLKB1 | c.1380C>G (p.Phe460Leu) n.615C>G n.6078C>G c.176C>G n.470C>G c.1377C>G (p.Phe459Leu) c.984C>G (p.Phe328Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186209247C>T | CA442882920 | CYP4V2,KLKB1 | c.1380C>T (p.Phe460=) n.615C>T n.6078C>T c.176C>T n.470C>T c.1377C>T (p.Phe459=) c.984C>T (p.Phe328=) | |
4 | g.186209248T>A | CA358950670 | CYP4V2,KLKB1 | c.1381T>A (p.Ser461Thr) n.616T>A n.6079T>A c.177T>A n.471T>A c.1378T>A (p.Ser460Thr) c.985T>A (p.Ser329Thr) | |
4 | g.186209248T>C | CA358950671 | CYP4V2,KLKB1 | c.1381T>C (p.Ser461Pro) n.616T>C n.6079T>C c.177T>C n.471T>C c.1378T>C (p.Ser460Pro) c.985T>C (p.Ser329Pro) | |
4 | g.186209248T>G | CA358950672 | CYP4V2,KLKB1 | c.1381T>G (p.Ser461Ala) n.616T>G n.6079T>G c.177T>G n.471T>G c.1378T>G (p.Ser460Ala) c.985T>G (p.Ser329Ala) | |
4 | g.186209249C>A | CA358950673 | CYP4V2,KLKB1 | c.1382C>A (p.Ser461Tyr) n.617C>A n.6080C>A c.178C>A n.472C>A c.1379C>A (p.Ser460Tyr) c.986C>A (p.Ser329Tyr) | |
4 | g.186209249C= | CA1519891494 | CYP4V2,KLKB1 | c.1382C= (p.Ser461=) n.617C= n.6080C= c.178C= n.472C= c.1379C= (p.Ser460=) c.986C= (p.Ser329=) | |
4 | g.186209249C>G | CA358950674 | CYP4V2,KLKB1 | c.1382C>G (p.Ser461Cys) n.617C>G n.6080C>G c.178C>G n.472C>G c.1379C>G (p.Ser460Cys) c.986C>G (p.Ser329Cys) | |
4 | g.186209249C>T | CA112135290 | CYP4V2,KLKB1 | c.1382C>T (p.Ser461Phe) n.617C>T n.6080C>T c.178C>T n.472C>T c.1379C>T (p.Ser460Phe) c.986C>T (p.Ser329Phe) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186209250T>A | CA442882931 | CYP4V2,KLKB1 | c.1383T>A (p.Ser461=) n.618T>A n.6081T>A c.179T>A n.473T>A c.1380T>A (p.Ser460=) c.987T>A (p.Ser329=) | |
4 | g.186209250T>C | CA442882933 | CYP4V2,KLKB1 | c.1383T>C (p.Ser461=) n.618T>C n.6081T>C c.179T>C n.473T>C c.1380T>C (p.Ser460=) c.987T>C (p.Ser329=) | |
4 | g.186209250T>G | CA442882934 | CYP4V2,KLKB1 | c.1383T>G (p.Ser461=) n.618T>G n.6081T>G c.179T>G n.473T>G c.1380T>G (p.Ser460=) c.987T>G (p.Ser329=) | |
4 | g.186209251G>A | CA358950677 | CYP4V2,KLKB1 | c.1384G>A (p.Ala462Thr) n.619G>A n.6082G>A c.180G>A n.474G>A c.1381G>A (p.Ala461Thr) c.988G>A (p.Ala330Thr) | gnomAD v4 |
4 | g.186209251G>C | CA358950676 | CYP4V2,KLKB1 | c.1384G>C (p.Ala462Pro) n.619G>C n.6082G>C c.180G>C n.474G>C c.1381G>C (p.Ala461Pro) c.988G>C (p.Ala330Pro) | |
4 | g.186209251G>T | CA358950675 | CYP4V2,KLKB1 | c.1384G>T (p.Ala462Ser) n.619G>T n.6082G>T c.180G>T n.474G>T c.1381G>T (p.Ala461Ser) c.988G>T (p.Ala330Ser) | |
4 | g.186209252C>A | CA358950678 | CYP4V2,KLKB1 | c.1385C>A (p.Ala462Asp) n.620C>A n.6083C>A c.181C>A n.475C>A c.1382C>A (p.Ala461Asp) c.989C>A (p.Ala330Asp) | |
4 | g.186209252C= | CA1519891495 | CYP4V2,KLKB1 | c.1385C= (p.Ala462=) n.620C= n.6083C= c.181C= n.475C= c.1382C= (p.Ala461=) c.989C= (p.Ala330=) | |
4 | g.186209252C>G | CA358950679 | CYP4V2,KLKB1 | c.1385C>G (p.Ala462Gly) n.620C>G n.6083C>G c.181C>G n.475C>G c.1382C>G (p.Ala461Gly) c.989C>G (p.Ala330Gly) | |
4 | g.186209252C>T | CA3162847 | CYP4V2,KLKB1 | c.1385C>T (p.Ala462Val) n.620C>T n.6083C>T c.181C>T n.475C>T c.1382C>T (p.Ala461Val) c.989C>T (p.Ala330Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209253T>A | CA442882945 | CYP4V2,KLKB1 | c.1386T>A (p.Ala462=) n.621T>A n.6084T>A c.182T>A n.476T>A c.1383T>A (p.Ala461=) c.990T>A (p.Ala330=) | |
4 | g.186209253T>C | CA442882947 | CYP4V2,KLKB1 | c.1386T>C (p.Ala462=) n.621T>C n.6084T>C c.182T>C n.476T>C c.1383T>C (p.Ala461=) c.990T>C (p.Ala330=) | |
4 | g.186209253T>G | CA442882949 | CYP4V2,KLKB1 | c.1386T>G (p.Ala462=) n.621T>G n.6084T>G c.182T>G n.476T>G c.1383T>G (p.Ala461=) c.990T>G (p.Ala330=) |