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