| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186209110A>C | CA358950374 | CYP4V2,KLKB1 | c.1243A>C (p.Lys415Gln) n.478A>C n.5941A>C c.39A>C n.333A>C c.1240A>C (p.Lys414Gln) c.847A>C (p.Lys283Gln) | gnomAD v4 |
| 4 | g.186209110A>G | CA358950375 | CYP4V2,KLKB1 | c.1243A>G (p.Lys415Glu) n.478A>G n.5941A>G c.39A>G n.333A>G c.1240A>G (p.Lys414Glu) c.847A>G (p.Lys283Glu) | |
| 4 | g.186209110A>T | CA358950376 | CYP4V2,KLKB1 | c.1243A>T (p.Lys415Ter) n.478A>T n.5941A>T c.39A>T n.333A>T c.1240A>T (p.Lys414Ter) c.847A>T (p.Lys283Ter) | |
| 4 | g.186209111A>C | CA358950377 | CYP4V2,KLKB1 | c.1244A>C (p.Lys415Thr) n.479A>C n.5942A>C c.40A>C n.334A>C c.1241A>C (p.Lys414Thr) c.848A>C (p.Lys283Thr) | |
| 4 | g.186209111A>G | CA358950378 | CYP4V2,KLKB1 | c.1244A>G (p.Lys415Arg) n.479A>G n.5942A>G c.40A>G n.334A>G c.1241A>G (p.Lys414Arg) c.848A>G (p.Lys283Arg) | |
| 4 | g.186209111A>T | CA358950379 | CYP4V2,KLKB1 | c.1244A>T (p.Lys415Ile) n.479A>T n.5942A>T c.40A>T n.334A>T c.1241A>T (p.Lys414Ile) c.848A>T (p.Lys283Ile) | |
| 4 | g.186209112A>C | CA358950380 | CYP4V2,KLKB1 | c.1245A>C (p.Lys415Asn) n.480A>C n.5943A>C c.41A>C n.335A>C c.1242A>C (p.Lys414Asn) c.849A>C (p.Lys283Asn) | |
| 4 | g.186209112A>G | CA442882418 | CYP4V2,KLKB1 | c.1245A>G (p.Lys415=) n.480A>G n.5943A>G c.41A>G n.335A>G c.1242A>G (p.Lys414=) c.849A>G (p.Lys283=) | |
| 4 | g.186209112A>T | CA358950381 | CYP4V2,KLKB1 | c.1245A>T (p.Lys415Asn) n.480A>T n.5943A>T c.41A>T n.335A>T c.1242A>T (p.Lys414Asn) c.849A>T (p.Lys283Asn) | |
| 4 | g.186209113G>A | CA112134958 | CYP4V2,KLKB1 | c.1246G>A (p.Gly416Ser) n.481G>A n.5944G>A c.42G>A n.336G>A c.1243G>A (p.Gly415Ser) c.850G>A (p.Gly284Ser) | dbSNP gnomAD v4 |
| 4 | g.186209113G>C | CA358950382 | CYP4V2,KLKB1 | c.1246G>C (p.Gly416Arg) n.481G>C n.5944G>C c.42G>C n.336G>C c.1243G>C (p.Gly415Arg) c.850G>C (p.Gly284Arg) | |
| 4 | g.186209113G= | CA1519891412 | CYP4V2,KLKB1 | c.1246G= (p.Gly416=) n.481G= n.5944G= c.42G= n.336G= c.1243G= (p.Gly415=) c.850G= (p.Gly284=) | |
| 4 | g.186209113G>T | CA358950383 | CYP4V2,KLKB1 | c.1246G>T (p.Gly416Cys) n.481G>T n.5944G>T c.42G>T n.336G>T c.1243G>T (p.Gly415Cys) c.850G>T (p.Gly284Cys) | |
| 4 | g.186209114G>A | CA358950384 | CYP4V2,KLKB1 | c.1247G>A (p.Gly416Asp) n.482G>A n.5945G>A c.43G>A n.337G>A c.1244G>A (p.Gly415Asp) c.851G>A (p.Gly284Asp) | gnomAD v4 |
| 4 | g.186209114G>C | CA358950385 | CYP4V2,KLKB1 | c.1247G>C (p.Gly416Ala) n.482G>C n.5945G>C c.43G>C n.337G>C c.1244G>C (p.Gly415Ala) c.851G>C (p.Gly284Ala) | |
| 4 | g.186209114G>T | CA358950386 | CYP4V2,KLKB1 | c.1247G>T (p.Gly416Val) n.482G>T n.5945G>T c.43G>T n.337G>T c.1244G>T (p.Gly415Val) c.851G>T (p.Gly284Val) | dbSNP |
| 4 | g.186209115C>A | CA442882429 | CYP4V2,KLKB1 | c.1248C>A (p.Gly416=) n.483C>A n.5946C>A c.44C>A n.338C>A c.1245C>A (p.Gly415=) c.852C>A (p.Gly284=) | |
| 4 | g.186209115C= | CA1519891413 | CYP4V2,KLKB1 | c.1248C= (p.Gly416=) n.483C= n.5946C= c.44C= n.338C= c.1245C= (p.Gly415=) c.852C= (p.Gly284=) | |
| 4 | g.186209115C>G | CA442882427 | CYP4V2,KLKB1 | c.1248C>G (p.Gly416=) n.483C>G n.5946C>G c.44C>G n.338C>G c.1245C>G (p.Gly415=) c.852C>G (p.Gly284=) | |
| 4 | g.186209115C>T | CA442882426 | CYP4V2,KLKB1 | c.1248C>T (p.Gly416=) n.483C>T n.5946C>T c.44C>T n.338C>T c.1245C>T (p.Gly415=) c.852C>T (p.Gly284=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209116A= | CA1519891414 | CYP4V2,KLKB1 | c.1249A= (p.Thr417=) n.484A= n.5947A= c.45A= n.339A= c.1246A= (p.Thr416=) c.853A= (p.Thr285=) | |
| 4 | g.186209116A>C | CA358950387 | CYP4V2,KLKB1 | c.1249A>C (p.Thr417Pro) n.484A>C n.5947A>C c.45A>C n.339A>C c.1246A>C (p.Thr416Pro) c.853A>C (p.Thr285Pro) | |
| 4 | g.186209116A>G | CA3162809 | CYP4V2,KLKB1 | c.1249A>G (p.Thr417Ala) n.484A>G n.5947A>G c.45A>G n.339A>G c.1246A>G (p.Thr416Ala) c.853A>G (p.Thr285Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186209116A>T | CA3162810 | CYP4V2,KLKB1 | c.1249A>T (p.Thr417Ser) n.484A>T n.5947A>T c.45A>T n.339A>T c.1246A>T (p.Thr416Ser) c.853A>T (p.Thr285Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186209116dup | CA2672897667 | CYP4V2,KLKB1 | c.1249dup (p.Thr417AsnfsTer2) n.484dup n.5947dup c.45dup n.339dup c.1246dup (p.Thr416AsnfsTer2) c.853dup (p.Thr285AsnfsTer2) | gnomAD v4 |
| 4 | g.186209116_186209117delinsAC | CA1519891415 | CYP4V2,KLKB1 | c.1249_1250delinsAC (p.Thr417=) n.484_485delinsAC n.5947_5948delinsAC c.45_46delinsAC n.339_340delinsAC c.1246_1247delinsAC (p.Thr416=) c.853_854delinsAC (p.Thr285=) | |
| 4 | g.186209116_186209117delinsTT | CA1139655859 | CYP4V2,KLKB1 | c.1249_1250delinsTT (p.Thr417Phe) n.484_485delinsTT n.5947_5948delinsTT c.45_46delinsTT n.339_340delinsTT c.1246_1247delinsTT (p.Thr416Phe) c.853_854delinsTT (p.Thr285Phe) | ClinVar dbSNP |
| 4 | g.186209117C>A | CA358950388 | CYP4V2,KLKB1 | c.1250C>A (p.Thr417Asn) n.485C>A n.5948C>A c.46C>A n.340C>A c.1247C>A (p.Thr416Asn) c.854C>A (p.Thr285Asn) | |
| 4 | g.186209117C= | CA1519891416 | CYP4V2,KLKB1 | c.1250C= (p.Thr417=) n.485C= n.5948C= c.46C= n.340C= c.1247C= (p.Thr416=) c.854C= (p.Thr285=) | |
| 4 | g.186209117C>G | CA358950389 | CYP4V2,KLKB1 | c.1250C>G (p.Thr417Ser) n.485C>G n.5948C>G c.46C>G n.340C>G c.1247C>G (p.Thr416Ser) c.854C>G (p.Thr285Ser) | |
| 4 | g.186209117C>T | CA3162811 | CYP4V2,KLKB1 | c.1250C>T (p.Thr417Ile) n.485C>T n.5948C>T c.46C>T n.340C>T c.1247C>T (p.Thr416Ile) c.854C>T (p.Thr285Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209118T>A | CA442882436 | CYP4V2,KLKB1 | c.1251T>A (p.Thr417=) n.486T>A n.5949T>A c.47T>A n.341T>A c.1248T>A (p.Thr416=) c.855T>A (p.Thr285=) | |
| 4 | g.186209118T>C | CA442882438 | CYP4V2,KLKB1 | c.1251T>C (p.Thr417=) n.486T>C n.5949T>C c.47T>C n.341T>C c.1248T>C (p.Thr416=) c.855T>C (p.Thr285=) | gnomAD v4 |
| 4 | g.186209118T>G | CA442882440 | CYP4V2,KLKB1 | c.1251T>G (p.Thr417=) n.486T>G n.5949T>G c.47T>G n.341T>G c.1248T>G (p.Thr416=) c.855T>G (p.Thr285=) | |
| 4 | g.186209119G>A | CA358950390 | CYP4V2,KLKB1 | c.1252G>A (p.Glu418Lys) n.487G>A n.5950G>A c.48G>A n.342G>A c.1249G>A (p.Glu417Lys) c.856G>A (p.Glu286Lys) | |
| 4 | g.186209119G>C | CA358950391 | CYP4V2,KLKB1 | c.1252G>C (p.Glu418Gln) n.487G>C n.5950G>C c.48G>C n.342G>C c.1249G>C (p.Glu417Gln) c.856G>C (p.Glu286Gln) | |
| 4 | g.186209119G>T | CA358950392 | CYP4V2,KLKB1 | c.1252G>T (p.Glu418Ter) n.487G>T n.5950G>T c.48G>T n.342G>T c.1249G>T (p.Glu417Ter) c.856G>T (p.Glu286Ter) | |
| 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) |