| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186209120A= | CA1519891417 | CYP4V2,KLKB1 | c.1253A= (p.Glu418=) n.488A= n.5951A= c.49A= n.343A= c.1250A= (p.Glu417=) c.857A= (p.Glu286=) | |
| 4 | g.186209120A>C | CA358950393 | CYP4V2,KLKB1 | c.1253A>C (p.Glu418Ala) n.488A>C n.5951A>C c.49A>C n.343A>C c.1250A>C (p.Glu417Ala) c.857A>C (p.Glu286Ala) | dbSNP |
| 4 | g.186209120A>G | CA358950394 | CYP4V2,KLKB1 | c.1253A>G (p.Glu418Gly) n.488A>G n.5951A>G c.49A>G n.343A>G c.1250A>G (p.Glu417Gly) c.857A>G (p.Glu286Gly) | |
| 4 | g.186209120A>T | CA358950395 | CYP4V2,KLKB1 | c.1253A>T (p.Glu418Val) n.488A>T n.5951A>T c.49A>T n.343A>T c.1250A>T (p.Glu417Val) c.857A>T (p.Glu286Val) | |
| 4 | g.186209121A>C | CA358950396 | CYP4V2,KLKB1 | c.1254A>C (p.Glu418Asp) n.489A>C n.5952A>C c.50A>C n.344A>C c.1251A>C (p.Glu417Asp) c.858A>C (p.Glu286Asp) | |
| 4 | g.186209121A>G | CA442882447 | CYP4V2,KLKB1 | c.1254A>G (p.Glu418=) n.489A>G n.5952A>G c.50A>G n.344A>G c.1251A>G (p.Glu417=) c.858A>G (p.Glu286=) | |
| 4 | g.186209121A>T | CA358950397 | CYP4V2,KLKB1 | c.1254A>T (p.Glu418Asp) n.489A>T n.5952A>T c.50A>T n.344A>T c.1251A>T (p.Glu417Asp) c.858A>T (p.Glu286Asp) | |
| 4 | g.186209122G>A | CA358950398 | CYP4V2,KLKB1 | c.1255G>A (p.Ala419Thr) n.490G>A n.5953G>A c.51G>A n.345G>A c.1252G>A (p.Ala418Thr) c.859G>A (p.Ala287Thr) | dbSNP |
| 4 | g.186209122G>C | CA358950399 | CYP4V2,KLKB1 | c.1255G>C (p.Ala419Pro) n.490G>C n.5953G>C c.51G>C n.345G>C c.1252G>C (p.Ala418Pro) c.859G>C (p.Ala287Pro) | |
| 4 | g.186209122G= | CA1519891418 | CYP4V2,KLKB1 | c.1255G= (p.Ala419=) n.490G= n.5953G= c.51G= n.345G= c.1252G= (p.Ala418=) c.859G= (p.Ala287=) | |
| 4 | g.186209122G>T | CA358950400 | CYP4V2,KLKB1 | c.1255G>T (p.Ala419Ser) n.490G>T n.5953G>T c.51G>T n.345G>T c.1252G>T (p.Ala418Ser) c.859G>T (p.Ala287Ser) | |
| 4 | g.186209123C>A | CA358950402 | CYP4V2,KLKB1 | c.1256C>A (p.Ala419Asp) n.491C>A n.5954C>A c.52C>A n.346C>A c.1253C>A (p.Ala418Asp) c.860C>A (p.Ala287Asp) | |
| 4 | g.186209123C>G | CA358950403 | CYP4V2,KLKB1 | c.1256C>G (p.Ala419Gly) n.491C>G n.5954C>G c.52C>G n.346C>G c.1253C>G (p.Ala418Gly) c.860C>G (p.Ala287Gly) | |
| 4 | g.186209123C>T | CA358950401 | CYP4V2,KLKB1 | c.1256C>T (p.Ala419Val) n.491C>T n.5954C>T c.52C>T n.346C>T c.1253C>T (p.Ala418Val) c.860C>T (p.Ala287Val) | gnomAD v4 |
| 4 | g.186209124C>A | CA442882454 | CYP4V2,KLKB1 | c.1257C>A (p.Ala419=) n.492C>A n.5955C>A c.53C>A n.347C>A c.1254C>A (p.Ala418=) c.861C>A (p.Ala287=) | |
| 4 | g.186209124C= | CA1519891419 | CYP4V2,KLKB1 | c.1257C= (p.Ala419=) n.492C= n.5955C= c.53C= n.347C= c.1254C= (p.Ala418=) c.861C= (p.Ala287=) | |
| 4 | g.186209124C>G | CA442882456 | CYP4V2,KLKB1 | c.1257C>G (p.Ala419=) n.492C>G n.5955C>G c.53C>G n.347C>G c.1254C>G (p.Ala418=) c.861C>G (p.Ala287=) | |
| 4 | g.186209124C>T | CA3162812 | CYP4V2,KLKB1 | c.1257C>T (p.Ala419=) n.492C>T n.5955C>T c.53C>T n.347C>T c.1254C>T (p.Ala418=) c.861C>T (p.Ala287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.186209125G>A | CA112135002 | CYP4V2,KLKB1 | c.1258G>A (p.Val420Ile) n.493G>A n.5956G>A c.54G>A n.348G>A c.1255G>A (p.Val419Ile) c.862G>A (p.Val288Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209125G>C | CA358950404 | CYP4V2,KLKB1 | c.1258G>C (p.Val420Leu) n.493G>C n.5956G>C c.54G>C n.348G>C c.1255G>C (p.Val419Leu) c.862G>C (p.Val288Leu) | |
| 4 | g.186209125G= | CA1519891420 | CYP4V2,KLKB1 | c.1258G= (p.Val420=) n.493G= n.5956G= c.54G= n.348G= c.1255G= (p.Val419=) c.862G= (p.Val288=) | |
| 4 | g.186209125G>T | CA358950405 | CYP4V2,KLKB1 | c.1258G>T (p.Val420Phe) n.493G>T n.5956G>T c.54G>T n.348G>T c.1255G>T (p.Val419Phe) c.862G>T (p.Val288Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186209126T>A | CA358950406 | CYP4V2,KLKB1 | c.1259T>A (p.Val420Asp) n.494T>A n.5957T>A c.55T>A n.349T>A c.1256T>A (p.Val419Asp) c.863T>A (p.Val288Asp) | |
| 4 | g.186209126T>C | CA358950407 | CYP4V2,KLKB1 | c.1259T>C (p.Val420Ala) n.494T>C n.5957T>C c.55T>C n.349T>C c.1256T>C (p.Val419Ala) c.863T>C (p.Val288Ala) | |
| 4 | g.186209126T>G | CA358950408 | CYP4V2,KLKB1 | c.1259T>G (p.Val420Gly) n.494T>G n.5957T>G c.55T>G n.349T>G c.1256T>G (p.Val419Gly) c.863T>G (p.Val288Gly) | |
| 4 | g.186209126dup | CA2672897686 | CYP4V2,KLKB1 | c.1259dup (p.Ile421HisfsTer22) n.494dup n.5957dup c.55dup n.349dup c.1256dup (p.Ile420HisfsTer22) c.863dup (p.Ile289HisfsTer22) | gnomAD v4 |
| 4 | g.186209127C>A | CA442882466 | CYP4V2,KLKB1 | c.1260C>A (p.Val420=) n.495C>A n.5958C>A c.56C>A n.350C>A c.1257C>A (p.Val419=) c.864C>A (p.Val288=) | |
| 4 | g.186209127C>G | CA442882467 | CYP4V2,KLKB1 | c.1260C>G (p.Val420=) n.495C>G n.5958C>G c.56C>G n.350C>G c.1257C>G (p.Val419=) c.864C>G (p.Val288=) | |
| 4 | g.186209127C>T | CA442882470 | CYP4V2,KLKB1 | c.1260C>T (p.Val420=) n.495C>T n.5958C>T c.56C>T n.350C>T c.1257C>T (p.Val419=) c.864C>T (p.Val288=) | |
| 4 | g.186209128A= | CA1519891421 | CYP4V2,KLKB1 | c.1261A= (p.Ile421=) n.496A= n.5959A= c.57A= n.351A= c.1258A= (p.Ile420=) c.865A= (p.Ile289=) | |
| 4 | g.186209128A>C | CA358950409 | CYP4V2,KLKB1 | c.1261A>C (p.Ile421Leu) n.496A>C n.5959A>C c.57A>C n.351A>C c.1258A>C (p.Ile420Leu) c.865A>C (p.Ile289Leu) | |
| 4 | g.186209128A>G | CA358950411 | CYP4V2,KLKB1 | c.1261A>G (p.Ile421Val) n.496A>G n.5959A>G c.57A>G n.351A>G c.1258A>G (p.Ile420Val) c.865A>G (p.Ile289Val) | dbSNP gnomAD v4 |
| 4 | g.186209128A>T | CA358950410 | CYP4V2,KLKB1 | c.1261A>T (p.Ile421Phe) n.496A>T n.5959A>T c.57A>T n.351A>T c.1258A>T (p.Ile420Phe) c.865A>T (p.Ile289Phe) | |
| 4 | g.186209129T>A | CA358950412 | CYP4V2,KLKB1 | c.1262T>A (p.Ile421Asn) n.497T>A n.5960T>A c.58T>A n.352T>A c.1259T>A (p.Ile420Asn) c.866T>A (p.Ile289Asn) | |
| 4 | g.186209129T>C | CA358950413 | CYP4V2,KLKB1 | c.1262T>C (p.Ile421Thr) n.497T>C n.5960T>C c.58T>C n.352T>C c.1259T>C (p.Ile420Thr) c.866T>C (p.Ile289Thr) | |
| 4 | g.186209129T>G | CA358950414 | CYP4V2,KLKB1 | c.1262T>G (p.Ile421Ser) n.497T>G n.5960T>G c.58T>G n.352T>G c.1259T>G (p.Ile420Ser) c.866T>G (p.Ile289Ser) | |
| 4 | g.186209130C>A | CA442882478 | CYP4V2,KLKB1 | c.1263C>A (p.Ile421=) n.498C>A n.5961C>A c.59C>A n.353C>A c.1260C>A (p.Ile420=) c.867C>A (p.Ile289=) | |
| 4 | g.186209130C>G | CA358950415 | CYP4V2,KLKB1 | c.1263C>G (p.Ile421Met) n.498C>G n.5961C>G c.59C>G n.353C>G c.1260C>G (p.Ile420Met) c.867C>G (p.Ile289Met) | |
| 4 | g.186209130C>T | CA442882480 | CYP4V2,KLKB1 | c.1263C>T (p.Ile421=) n.498C>T n.5961C>T c.59C>T n.353C>T c.1260C>T (p.Ile420=) c.867C>T (p.Ile289=) | |
| 4 | g.186209131A>C | CA358950416 | CYP4V2,KLKB1 | c.1264A>C (p.Ile422Leu) n.499A>C n.5962A>C c.60A>C n.354A>C c.1261A>C (p.Ile421Leu) c.868A>C (p.Ile290Leu) | |
| 4 | g.186209131A>G | CA358950418 | CYP4V2,KLKB1 | c.1264A>G (p.Ile422Val) n.499A>G n.5962A>G c.60A>G n.354A>G c.1261A>G (p.Ile421Val) c.868A>G (p.Ile290Val) | gnomAD v4 |
| 4 | g.186209131A>T | CA358950417 | CYP4V2,KLKB1 | c.1264A>T (p.Ile422Phe) n.499A>T n.5962A>T c.60A>T n.354A>T c.1261A>T (p.Ile421Phe) c.868A>T (p.Ile290Phe) | |
| 4 | g.186209132T>A | CA358950419 | CYP4V2,KLKB1 | c.1265T>A (p.Ile422Asn) n.500T>A n.5963T>A c.61T>A n.355T>A c.1262T>A (p.Ile421Asn) c.869T>A (p.Ile290Asn) | |
| 4 | g.186209132T>C | CA358950420 | CYP4V2,KLKB1 | c.1265T>C (p.Ile422Thr) n.500T>C n.5963T>C c.61T>C n.355T>C c.1262T>C (p.Ile421Thr) c.869T>C (p.Ile290Thr) | |
| 4 | g.186209132T>G | CA358950421 | CYP4V2,KLKB1 | c.1265T>G (p.Ile422Ser) n.500T>G n.5963T>G c.61T>G n.355T>G c.1262T>G (p.Ile421Ser) c.869T>G (p.Ile290Ser) | |
| 4 | g.186209133T>A | CA442882487 | CYP4V2,KLKB1 | c.1266T>A (p.Ile422=) n.501T>A n.5964T>A c.62T>A n.356T>A c.1263T>A (p.Ile421=) c.870T>A (p.Ile290=) | |
| 4 | g.186209133T>C | CA442882488 | CYP4V2,KLKB1 | c.1266T>C (p.Ile422=) n.501T>C n.5964T>C c.62T>C n.356T>C c.1263T>C (p.Ile421=) c.870T>C (p.Ile290=) | gnomAD v4 |
| 4 | g.186209133T>G | CA358950422 | CYP4V2,KLKB1 | c.1266T>G (p.Ile422Met) n.501T>G n.5964T>G c.62T>G n.356T>G c.1263T>G (p.Ile421Met) c.870T>G (p.Ile290Met) | |
| 4 | g.186209134C>A | CA358950423 | CYP4V2,KLKB1 | c.1267C>A (p.Pro423Thr) n.502C>A n.5965C>A c.63C>A n.357C>A c.1264C>A (p.Pro422Thr) c.871C>A (p.Pro291Thr) | |
| 4 | g.186209134C= | CA1519891422 | CYP4V2,KLKB1 | c.1267C= (p.Pro423=) n.502C= n.5965C= c.63C= n.357C= c.1264C= (p.Pro422=) c.871C= (p.Pro291=) |