| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |