Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186209104G>A | CA358950364 | CYP4V2,KLKB1 | c.1237G>A (p.Val413Ile) n.472G>A n.5935G>A c.33G>A n.327G>A c.1234G>A (p.Val412Ile) c.841G>A (p.Val281Ile) | |
4 | g.186209104G>C | CA358950365 | CYP4V2,KLKB1 | c.1237G>C (p.Val413Leu) n.472G>C n.5935G>C c.33G>C n.327G>C c.1234G>C (p.Val412Leu) c.841G>C (p.Val281Leu) | |
4 | g.186209104G>T | CA358950366 | CYP4V2,KLKB1 | c.1237G>T (p.Val413Phe) n.472G>T n.5935G>T c.33G>T n.327G>T c.1234G>T (p.Val412Phe) c.841G>T (p.Val281Phe) | |
4 | g.186209105T>A | CA358950367 | CYP4V2,KLKB1 | c.1238T>A (p.Val413Asp) n.473T>A n.5936T>A c.34T>A n.328T>A c.1235T>A (p.Val412Asp) c.842T>A (p.Val281Asp) | |
4 | g.186209105T>C | CA358950368 | CYP4V2,KLKB1 | c.1238T>C (p.Val413Ala) n.473T>C n.5936T>C c.34T>C n.328T>C c.1235T>C (p.Val412Ala) c.842T>C (p.Val281Ala) | |
4 | g.186209105T>G | CA358950369 | CYP4V2,KLKB1 | c.1238T>G (p.Val413Gly) n.473T>G n.5936T>G c.34T>G n.328T>G c.1235T>G (p.Val412Gly) c.842T>G (p.Val281Gly) | |
4 | g.186209106T>A | CA442882395 | CYP4V2,KLKB1 | c.1239T>A (p.Val413=) n.474T>A n.5937T>A c.35T>A n.329T>A c.1236T>A (p.Val412=) c.843T>A (p.Val281=) | |
4 | g.186209106T>C | CA442882399 | CYP4V2,KLKB1 | c.1239T>C (p.Val413=) n.474T>C n.5937T>C c.35T>C n.329T>C c.1236T>C (p.Val412=) c.843T>C (p.Val281=) | gnomAD v4 |
4 | g.186209106T>G | CA442882397 | CYP4V2,KLKB1 | c.1239T>G (p.Val413=) n.474T>G n.5937T>G c.35T>G n.329T>G c.1236T>G (p.Val412=) c.843T>G (p.Val281=) | |
4 | g.186209107C>A | CA358950370 | CYP4V2,KLKB1 | c.1240C>A (p.Leu414Ile) n.475C>A n.5938C>A c.36C>A n.330C>A c.1237C>A (p.Leu413Ile) c.844C>A (p.Leu282Ile) | gnomAD v4 |
4 | g.186209107C= | CA1519891410 | CYP4V2,KLKB1 | c.1240C= (p.Leu414=) n.475C= n.5938C= c.36C= n.330C= c.1237C= (p.Leu413=) c.844C= (p.Leu282=) | |
4 | g.186209107C>G | CA358950371 | CYP4V2,KLKB1 | c.1240C>G (p.Leu414Val) n.475C>G n.5938C>G c.36C>G n.330C>G c.1237C>G (p.Leu413Val) c.844C>G (p.Leu282Val) | |
4 | g.186209107C>T | CA442882402 | CYP4V2,KLKB1 | c.1240C>T (p.Leu414=) n.475C>T n.5938C>T c.36C>T n.330C>T c.1237C>T (p.Leu413=) c.844C>T (p.Leu282=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209108T>A | CA358950373 | CYP4V2,KLKB1 | c.1241T>A (p.Leu414Gln) n.476T>A n.5939T>A c.37T>A n.331T>A c.1238T>A (p.Leu413Gln) c.845T>A (p.Leu282Gln) | |
4 | g.186209108T>C | CA3162808 | CYP4V2,KLKB1 | c.1241T>C (p.Leu414Pro) n.476T>C n.5939T>C c.37T>C n.331T>C c.1238T>C (p.Leu413Pro) c.845T>C (p.Leu282Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186209108T>G | CA358950372 | CYP4V2,KLKB1 | c.1241T>G (p.Leu414Arg) n.476T>G n.5939T>G c.37T>G n.331T>G c.1238T>G (p.Leu413Arg) c.845T>G (p.Leu282Arg) | dbSNP |
4 | g.186209108T= | CA1519891411 | CYP4V2,KLKB1 | c.1241T= (p.Leu414=) n.476T= n.5939T= c.37T= n.331T= c.1238T= (p.Leu413=) c.845T= (p.Leu282=) | |
4 | g.186209109A>C | CA442882407 | CYP4V2,KLKB1 | c.1242A>C (p.Leu414=) n.477A>C n.5940A>C c.38A>C n.332A>C c.1239A>C (p.Leu413=) c.846A>C (p.Leu282=) | |
4 | g.186209109A>G | CA442882408 | CYP4V2,KLKB1 | c.1242A>G (p.Leu414=) n.477A>G n.5940A>G c.38A>G n.332A>G c.1239A>G (p.Leu413=) c.846A>G (p.Leu282=) | |
4 | g.186209109A>T | CA442882410 | CYP4V2,KLKB1 | c.1242A>T (p.Leu414=) n.477A>T n.5940A>T c.38A>T n.332A>T c.1239A>T (p.Leu413=) c.846A>T (p.Leu282=) | |
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) | |
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=) | |
4 | g.186209134C>G | CA358950424 | CYP4V2,KLKB1 | c.1267C>G (p.Pro423Ala) n.502C>G n.5965C>G c.63C>G n.357C>G c.1264C>G (p.Pro422Ala) c.871C>G (p.Pro291Ala) | |
4 | g.186209134C>T | CA358950425 | CYP4V2,KLKB1 | c.1267C>T (p.Pro423Ser) n.502C>T n.5965C>T c.63C>T n.357C>T c.1264C>T (p.Pro422Ser) c.871C>T (p.Pro291Ser) | dbSNP gnomAD v4 |
4 | g.186209135C>A | CA358950426 | CYP4V2,KLKB1 | c.1268C>A (p.Pro423His) n.503C>A n.5966C>A c.64C>A n.358C>A c.1265C>A (p.Pro422His) c.872C>A (p.Pro291His) | |
4 | g.186209135C= | CA1519891423 | CYP4V2,KLKB1 | c.1268C= (p.Pro423=) n.503C= n.5966C= c.64C= n.358C= c.1265C= (p.Pro422=) c.872C= (p.Pro291=) | |
4 | g.186209135C>G | CA358950427 | CYP4V2,KLKB1 | c.1268C>G (p.Pro423Arg) n.503C>G n.5966C>G c.64C>G n.358C>G c.1265C>G (p.Pro422Arg) c.872C>G (p.Pro291Arg) | |
4 | g.186209135C>T | CA358950428 | CYP4V2,KLKB1 | c.1268C>T (p.Pro423Leu) n.503C>T n.5966C>T c.64C>T n.358C>T c.1265C>T (p.Pro422Leu) c.872C>T (p.Pro291Leu) | dbSNP gnomAD v4 |
4 | g.186209136C>A | CA442882497 | CYP4V2,KLKB1 | c.1269C>A (p.Pro423=) n.504C>A n.5967C>A c.65C>A n.359C>A c.1266C>A (p.Pro422=) c.873C>A (p.Pro291=) | |
4 | g.186209136C= | CA1519891424 | CYP4V2,KLKB1 | c.1269C= (p.Pro423=) n.504C= n.5967C= c.65C= n.359C= c.1266C= (p.Pro422=) c.873C= (p.Pro291=) | |
4 | g.186209136C>G | CA442882499 | CYP4V2,KLKB1 | c.1269C>G (p.Pro423=) n.504C>G n.5967C>G c.65C>G n.359C>G c.1266C>G (p.Pro422=) c.873C>G (p.Pro291=) | |
4 | g.186209136C>T | CA112135019 | CYP4V2,KLKB1 | c.1269C>T (p.Pro423=) n.504C>T n.5967C>T c.65C>T n.359C>T c.1266C>T (p.Pro422=) c.873C>T (p.Pro291=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.186209137T>A | CA358950429 | CYP4V2,KLKB1 | c.1270T>A (p.Tyr424Asn) n.505T>A n.5968T>A c.66T>A n.360T>A c.1267T>A (p.Tyr423Asn) c.874T>A (p.Tyr292Asn) | |
4 | g.186209137T>C | CA358950431 | CYP4V2,KLKB1 | c.1270T>C (p.Tyr424His) n.505T>C n.5968T>C c.66T>C n.360T>C c.1267T>C (p.Tyr423His) c.874T>C (p.Tyr292His) | |
4 | g.186209137T>G | CA358950430 | CYP4V2,KLKB1 | c.1270T>G (p.Tyr424Asp) n.505T>G n.5968T>G c.66T>G n.360T>G c.1267T>G (p.Tyr423Asp) c.874T>G (p.Tyr292Asp) | |
4 | g.186209138A= | CA1519891425 | CYP4V2,KLKB1 | c.1271A= (p.Tyr424=) n.506A= n.5969A= c.67A= n.361A= c.1268A= (p.Tyr423=) c.875A= (p.Tyr292=) | |
4 | g.186209138A>C | CA358950432 | CYP4V2,KLKB1 | c.1271A>C (p.Tyr424Ser) n.506A>C n.5969A>C c.67A>C n.361A>C c.1268A>C (p.Tyr423Ser) c.875A>C (p.Tyr292Ser) | |
4 | g.186209138A>G | CA3162813 | CYP4V2,KLKB1 | c.1271A>G (p.Tyr424Cys) n.506A>G n.5969A>G c.67A>G n.361A>G c.1268A>G (p.Tyr423Cys) c.875A>G (p.Tyr292Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209138A>T | CA358950433 | CYP4V2,KLKB1 | c.1271A>T (p.Tyr424Phe) n.506A>T n.5969A>T c.67A>T n.361A>T c.1268A>T (p.Tyr423Phe) c.875A>T (p.Tyr292Phe) | |
4 | g.186209139T>A | CA358950434 | CYP4V2,KLKB1 | c.1272T>A (p.Tyr424Ter) n.507T>A n.5970T>A c.68T>A n.362T>A c.1269T>A (p.Tyr423Ter) c.876T>A (p.Tyr292Ter) | |
4 | g.186209139T>C | CA442882509 | CYP4V2,KLKB1 | c.1272T>C (p.Tyr424=) n.507T>C n.5970T>C c.68T>C n.362T>C c.1269T>C (p.Tyr423=) c.876T>C (p.Tyr292=) | ClinVar dbSNP |
4 | g.186209139T>G | CA358950435 | CYP4V2,KLKB1 | c.1272T>G (p.Tyr424Ter) n.507T>G n.5970T>G c.68T>G n.362T>G c.1269T>G (p.Tyr423Ter) c.876T>G (p.Tyr292Ter) | |
4 | g.186209140G>A | CA112135036 | CYP4V2,KLKB1 | c.1273G>A (p.Ala425Thr) n.508G>A n.5971G>A c.69G>A n.363G>A c.1270G>A (p.Ala424Thr) c.877G>A (p.Ala293Thr) | ClinVar dbSNP gnomAD v4 |
4 | g.186209140G>C | CA358950436 | CYP4V2,KLKB1 | c.1273G>C (p.Ala425Pro) n.508G>C n.5971G>C c.69G>C n.363G>C c.1270G>C (p.Ala424Pro) c.877G>C (p.Ala293Pro) | |
4 | g.186209140G= | CA1519891426 | CYP4V2,KLKB1 | c.1273G= (p.Ala425=) n.508G= n.5971G= c.69G= n.363G= c.1270G= (p.Ala424=) c.877G= (p.Ala293=) | |
4 | g.186209140G>T | CA358950437 | CYP4V2,KLKB1 | c.1273G>T (p.Ala425Ser) n.508G>T n.5971G>T c.69G>T n.363G>T c.1270G>T (p.Ala424Ser) c.877G>T (p.Ala293Ser) | |
4 | g.186209141C>A | CA358950438 | CYP4V2,KLKB1 | c.1274C>A (p.Ala425Glu) n.509C>A n.5972C>A c.70C>A n.364C>A c.1271C>A (p.Ala424Glu) c.878C>A (p.Ala293Glu) | gnomAD v4 |
4 | g.186209141C= | CA1519891427 | CYP4V2,KLKB1 | c.1274C= (p.Ala425=) n.509C= n.5972C= c.70C= n.364C= c.1271C= (p.Ala424=) c.878C= (p.Ala293=) | |
4 | g.186209141C>G | CA358950439 | CYP4V2,KLKB1 | c.1274C>G (p.Ala425Gly) n.509C>G n.5972C>G c.70C>G n.364C>G c.1271C>G (p.Ala424Gly) c.878C>G (p.Ala293Gly) | |
4 | g.186209141C>T | CA3162814 | CYP4V2,KLKB1 | c.1274C>T (p.Ala425Val) n.509C>T n.5972C>T c.70C>T n.364C>T c.1271C>T (p.Ala424Val) c.878C>T (p.Ala293Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186209142A= | CA1519891428 | CYP4V2,KLKB1 | c.1275A= (p.Ala425=) n.510A= n.5973A= c.71A= n.365A= c.1272A= (p.Ala424=) c.879A= (p.Ala293=) | |
4 | g.186209142A>C | CA442882527 | CYP4V2,KLKB1 | c.1275A>C (p.Ala425=) n.510A>C n.5973A>C c.71A>C n.365A>C c.1272A>C (p.Ala424=) c.879A>C (p.Ala293=) | gnomAD v4 |
4 | g.186209142A>G | CA442882528 | CYP4V2,KLKB1 | c.1275A>G (p.Ala425=) n.510A>G n.5973A>G c.71A>G n.365A>G c.1272A>G (p.Ala424=) c.879A>G (p.Ala293=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186209142A>T | CA442882530 | CYP4V2,KLKB1 | c.1275A>T (p.Ala425=) n.510A>T n.5973A>T c.71A>T n.365A>T c.1272A>T (p.Ala424=) c.879A>T (p.Ala293=) | |
4 | g.186209143T>A | CA358950440 | CYP4V2,KLKB1 | c.1276T>A (p.Leu426Met) n.511T>A n.5974T>A c.72T>A n.366T>A c.1273T>A (p.Leu425Met) c.880T>A (p.Leu294Met) | |
4 | g.186209143T>C | CA442882533 | CYP4V2,KLKB1 | c.1276T>C (p.Leu426=) n.511T>C n.5974T>C c.72T>C n.366T>C c.1273T>C (p.Leu425=) c.880T>C (p.Leu294=) | |
4 | g.186209143T>G | CA358950441 | CYP4V2,KLKB1 | c.1276T>G (p.Leu426Val) n.511T>G n.5974T>G c.72T>G n.366T>G c.1273T>G (p.Leu425Val) c.880T>G (p.Leu294Val) | |
4 | g.186209144T>A | CA358950444 | CYP4V2,KLKB1 | c.1277T>A (p.Leu426Ter) n.512T>A n.5975T>A c.73T>A n.367T>A c.1274T>A (p.Leu425Ter) c.881T>A (p.Leu294Ter) | |
4 | g.186209144T>C | CA358950443 | CYP4V2,KLKB1 | c.1277T>C (p.Leu426Ser) n.512T>C n.5975T>C c.73T>C n.367T>C c.1274T>C (p.Leu425Ser) c.881T>C (p.Leu294Ser) | dbSNP |
4 | g.186209144T>G | CA358950442 | CYP4V2,KLKB1 | c.1277T>G (p.Leu426Trp) n.512T>G n.5975T>G c.73T>G n.367T>G c.1274T>G (p.Leu425Trp) c.881T>G (p.Leu294Trp) | |
4 | g.186209144T= | CA1519891429 | CYP4V2,KLKB1 | c.1277T= (p.Leu426=) n.512T= n.5975T= c.73T= n.367T= c.1274T= (p.Leu425=) c.881T= (p.Leu294=) | |
4 | g.186209145G>A | CA3162815 | CYP4V2,KLKB1 | c.1278G>A (p.Leu426=) n.513G>A n.5976G>A c.74G>A n.368G>A c.1275G>A (p.Leu425=) c.882G>A (p.Leu294=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186209145G>C | CA358950445 | CYP4V2,KLKB1 | c.1278G>C (p.Leu426Phe) n.513G>C n.5976G>C c.74G>C n.368G>C c.1275G>C (p.Leu425Phe) c.882G>C (p.Leu294Phe) | |
4 | g.186209145G= | CA1519891430 | CYP4V2,KLKB1 | c.1278G= (p.Leu426=) n.513G= n.5976G= c.74G= n.368G= c.1275G= (p.Leu425=) c.882G= (p.Leu294=) | |
4 | g.186209145G>T | CA358950446 | CYP4V2,KLKB1 | c.1278G>T (p.Leu426Phe) n.513G>T n.5976G>T c.74G>T n.368G>T c.1275G>T (p.Leu425Phe) c.882G>T (p.Leu294Phe) | |
4 | g.186209146C>A | CA358950447 | CYP4V2,KLKB1 | c.1279C>A (p.His427Asn) n.514C>A n.5977C>A c.75C>A n.369C>A c.1276C>A (p.His426Asn) c.883C>A (p.His295Asn) | |
4 | g.186209146C= | CA1519891431 | CYP4V2,KLKB1 | c.1279C= (p.His427=) n.514C= n.5977C= c.75C= n.369C= c.1276C= (p.His426=) c.883C= (p.His295=) | |
4 | g.186209146C>G | CA358950448 | CYP4V2,KLKB1 | c.1279C>G (p.His427Asp) n.514C>G n.5977C>G c.75C>G n.369C>G c.1276C>G (p.His426Asp) c.883C>G (p.His295Asp) | |
4 | g.186209146C>T | CA358950449 | CYP4V2,KLKB1 | c.1279C>T (p.His427Tyr) n.514C>T n.5977C>T c.75C>T n.369C>T c.1276C>T (p.His426Tyr) c.883C>T (p.His295Tyr) | dbSNP gnomAD v2 |
4 | g.186209147A= | CA1519891432 | CYP4V2,KLKB1 | c.1280A= (p.His427=) n.515A= n.5978A= c.76A= n.370A= c.1277A= (p.His426=) c.884A= (p.His295=) | |
4 | g.186209147A>C | CA358950450 | CYP4V2,KLKB1 | c.1280A>C (p.His427Pro) n.515A>C n.5978A>C c.76A>C n.370A>C c.1277A>C (p.His426Pro) c.884A>C (p.His295Pro) | |
4 | g.186209147A>G | CA358950451 | CYP4V2,KLKB1 | c.1280A>G (p.His427Arg) n.515A>G n.5978A>G c.76A>G n.370A>G c.1277A>G (p.His426Arg) c.884A>G (p.His295Arg) | dbSNP |
4 | g.186209147A>T | CA358950452 | CYP4V2,KLKB1 | c.1280A>T (p.His427Leu) n.515A>T n.5978A>T c.76A>T n.370A>T c.1277A>T (p.His426Leu) c.884A>T (p.His295Leu) | |
4 | g.186209148C>A | CA358950453 | CYP4V2,KLKB1 | c.1281C>A (p.His427Gln) n.516C>A n.5979C>A c.77C>A n.371C>A c.1278C>A (p.His426Gln) c.885C>A (p.His295Gln) | |
4 | g.186209148C>G | CA358950454 | CYP4V2,KLKB1 | c.1281C>G (p.His427Gln) n.516C>G n.5979C>G c.77C>G n.371C>G c.1278C>G (p.His426Gln) c.885C>G (p.His295Gln) | |
4 | g.186209148C>T | CA442882462 | CYP4V2,KLKB1 | c.1281C>T (p.His427=) n.516C>T n.5979C>T c.77C>T n.371C>T c.1278C>T (p.His426=) c.885C>T (p.His295=) | |
4 | g.186209149A>C | CA442882468 | CYP4V2,KLKB1 | c.1282A>C (p.Arg428=) n.517A>C n.5980A>C c.78A>C n.372A>C c.1279A>C (p.Arg427=) c.886A>C (p.Arg296=) | |
4 | g.186209149A>G | CA358950455 | CYP4V2,KLKB1 | c.1282A>G (p.Arg428Gly) n.517A>G n.5980A>G c.78A>G n.372A>G c.1279A>G (p.Arg427Gly) c.886A>G (p.Arg296Gly) | gnomAD v4 |
4 | g.186209149A>T | CA358950456 | CYP4V2,KLKB1 | c.1282A>T (p.Arg428Ter) n.517A>T n.5980A>T c.78A>T n.372A>T c.1279A>T (p.Arg427Ter) c.886A>T (p.Arg296Ter) | |
4 | g.186209150G>A | CA358950458 | CYP4V2,KLKB1 | c.1283G>A (p.Arg428Lys) n.518G>A n.5981G>A c.79G>A n.373G>A c.1280G>A (p.Arg427Lys) c.887G>A (p.Arg296Lys) | |
4 | g.186209150G>C | CA358950459 | CYP4V2,KLKB1 | c.1283G>C (p.Arg428Thr) n.518G>C n.5981G>C c.79G>C n.373G>C c.1280G>C (p.Arg427Thr) c.887G>C (p.Arg296Thr) | |
4 | g.186209150G>T | CA358950457 | CYP4V2,KLKB1 | c.1283G>T (p.Arg428Ile) n.518G>T n.5981G>T c.79G>T n.373G>T c.1280G>T (p.Arg427Ile) c.887G>T (p.Arg296Ile) | |
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.186209151A= | CA1519891433 | CYP4V2,KLKB1 | c.1284A= (p.Arg428=) n.519A= n.5982A= c.80A= n.374A= c.1281A= (p.Arg427=) c.888A= (p.Arg296=) | |
4 | g.186209151A>C | CA358950460 | CYP4V2,KLKB1 | c.1284A>C (p.Arg428Ser) n.519A>C n.5982A>C c.80A>C n.374A>C c.1281A>C (p.Arg427Ser) c.888A>C (p.Arg296Ser) | |
4 | g.186209151A>G | CA3162816 | CYP4V2,KLKB1 | c.1284A>G (p.Arg428=) n.519A>G n.5982A>G c.80A>G n.374A>G c.1281A>G (p.Arg427=) c.888A>G (p.Arg296=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186209151A>T | CA358950461 | CYP4V2,KLKB1 | c.1284A>T (p.Arg428Ser) n.519A>T n.5982A>T c.80A>T n.374A>T c.1281A>T (p.Arg427Ser) c.888A>T (p.Arg296Ser) | |
4 | g.186209152G>A | CA358950462 | CYP4V2,KLKB1 | c.1285G>A (p.Asp429Asn) n.520G>A n.5983G>A c.81G>A n.375G>A c.1282G>A (p.Asp428Asn) c.889G>A (p.Asp297Asn) | |
4 | g.186209152G>C | CA358950463 | CYP4V2,KLKB1 | c.1285G>C (p.Asp429His) n.520G>C n.5983G>C c.81G>C n.375G>C c.1282G>C (p.Asp428His) c.889G>C (p.Asp297His) | |
4 | g.186209152G= | CA1519891434 | CYP4V2,KLKB1 | c.1285G= (p.Asp429=) n.520G= n.5983G= c.81G= n.375G= c.1282G= (p.Asp428=) c.889G= (p.Asp297=) | |
4 | g.186209152G>T | CA3162817 | CYP4V2,KLKB1 | c.1285G>T (p.Asp429Tyr) n.520G>T n.5983G>T c.81G>T n.375G>T c.1282G>T (p.Asp428Tyr) c.889G>T (p.Asp297Tyr) | dbSNP ExAC gnomAD v2 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 |