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