Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186209233G>A | CA358950640 | CYP4V2,KLKB1 | c.1366G>A (p.Ala456Thr) n.601G>A n.6064G>A c.162G>A n.456G>A c.1363G>A (p.Ala455Thr) c.970G>A (p.Ala324Thr) | |
4 | g.186209233G>C | CA358950641 | CYP4V2,KLKB1 | c.1366G>C (p.Ala456Pro) n.601G>C n.6064G>C c.162G>C n.456G>C c.1363G>C (p.Ala455Pro) c.970G>C (p.Ala324Pro) | |
4 | g.186209233G>T | CA358950642 | CYP4V2,KLKB1 | c.1366G>T (p.Ala456Ser) n.601G>T n.6064G>T c.162G>T n.456G>T c.1363G>T (p.Ala455Ser) c.970G>T (p.Ala324Ser) | |
4 | g.186209234C>A | CA358950643 | CYP4V2,KLKB1 | c.1367C>A (p.Ala456Asp) n.602C>A n.6065C>A c.163C>A n.457C>A c.1364C>A (p.Ala455Asp) c.971C>A (p.Ala324Asp) | |
4 | g.186209234C= | CA1519891483 | CYP4V2,KLKB1 | c.1367C= (p.Ala456=) n.602C= n.6065C= c.163C= n.457C= c.1364C= (p.Ala455=) c.971C= (p.Ala324=) | |
4 | g.186209234C>G | CA3162842 | CYP4V2,KLKB1 | c.1367C>G (p.Ala456Gly) n.602C>G n.6065C>G c.163C>G n.457C>G c.1364C>G (p.Ala455Gly) c.971C>G (p.Ala324Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209234C>T | CA358950644 | CYP4V2,KLKB1 | c.1367C>T (p.Ala456Val) n.602C>T n.6065C>T c.163C>T n.457C>T c.1364C>T (p.Ala455Val) c.971C>T (p.Ala324Val) | |
4 | g.186209235C>A | CA442882862 | CYP4V2,KLKB1 | c.1368C>A (p.Ala456=) n.603C>A n.6066C>A c.164C>A n.458C>A c.1365C>A (p.Ala455=) c.972C>A (p.Ala324=) | |
4 | g.186209235C>G | CA442882864 | CYP4V2,KLKB1 | c.1368C>G (p.Ala456=) n.603C>G n.6066C>G c.164C>G n.458C>G c.1365C>G (p.Ala455=) c.972C>G (p.Ala324=) | |
4 | g.186209235C>T | CA442882866 | CYP4V2,KLKB1 | c.1368C>T (p.Ala456=) n.603C>T n.6066C>T c.164C>T n.458C>T c.1365C>T (p.Ala455=) c.972C>T (p.Ala324=) | ClinVar dbSNP |
4 | g.186209236T>A | CA358950645 | CYP4V2,KLKB1 | c.1369T>A (p.Tyr457Asn) n.604T>A n.6067T>A c.165T>A n.459T>A c.1366T>A (p.Tyr456Asn) c.973T>A (p.Tyr325Asn) | |
4 | g.186209236T>C | CA358950646 | CYP4V2,KLKB1 | c.1369T>C (p.Tyr457His) n.604T>C n.6067T>C c.165T>C n.459T>C c.1366T>C (p.Tyr456His) c.973T>C (p.Tyr325His) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186209236T>G | CA358950647 | CYP4V2,KLKB1 | c.1369T>G (p.Tyr457Asp) n.604T>G n.6067T>G c.165T>G n.459T>G c.1366T>G (p.Tyr456Asp) c.973T>G (p.Tyr325Asp) | |
4 | g.186209236T= | CA1519891484 | CYP4V2,KLKB1 | c.1369T= (p.Tyr457=) n.604T= n.6067T= c.165T= n.459T= c.1366T= (p.Tyr456=) c.973T= (p.Tyr325=) | |
4 | g.186209237A= | CA1519891485 | CYP4V2,KLKB1 | c.1370A= (p.Tyr457=) n.605A= n.6068A= c.166A= n.460A= c.1367A= (p.Tyr456=) c.974A= (p.Tyr325=) | |
4 | g.186209237A>C | CA358950649 | CYP4V2,KLKB1 | c.1370A>C (p.Tyr457Ser) n.605A>C n.6068A>C c.166A>C n.460A>C c.1367A>C (p.Tyr456Ser) c.974A>C (p.Tyr325Ser) | |
4 | g.186209237A>G | CA3162843 | CYP4V2,KLKB1 | c.1370A>G (p.Tyr457Cys) n.605A>G n.6068A>G c.166A>G n.460A>G c.1367A>G (p.Tyr456Cys) c.974A>G (p.Tyr325Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186209237A>T | CA358950648 | CYP4V2,KLKB1 | c.1370A>T (p.Tyr457Phe) n.605A>T n.6068A>T c.166A>T n.460A>T c.1367A>T (p.Tyr456Phe) c.974A>T (p.Tyr325Phe) | gnomAD v4 |
4 | g.186209237dup | CA2672897762 | CYP4V2,KLKB1 | c.1370dup (p.Tyr457Ter) n.605dup n.6068dup c.166dup n.460dup c.1367dup (p.Tyr456Ter) c.974dup (p.Tyr325Ter) | gnomAD v4 |
4 | g.186209238C>A | CA358950650 | CYP4V2,KLKB1 | c.1371C>A (p.Tyr457Ter) n.606C>A n.6069C>A c.167C>A n.461C>A c.1368C>A (p.Tyr456Ter) c.975C>A (p.Tyr325Ter) | |
4 | g.186209238C= | CA1519891486 | CYP4V2,KLKB1 | c.1371C= (p.Tyr457=) n.606C= n.6069C= c.167C= n.461C= c.1368C= (p.Tyr456=) c.975C= (p.Tyr325=) | |
4 | g.186209238C>G | CA358950651 | CYP4V2,KLKB1 | c.1371C>G (p.Tyr457Ter) n.606C>G n.6069C>G c.167C>G n.461C>G c.1368C>G (p.Tyr456Ter) c.975C>G (p.Tyr325Ter) | |
4 | g.186209238C>T | CA3162844 | CYP4V2,KLKB1 | c.1371C>T (p.Tyr457=) n.606C>T n.6069C>T c.167C>T n.461C>T c.1368C>T (p.Tyr456=) c.975C>T (p.Tyr325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209239G>A | CA3162845 | CYP4V2,KLKB1 | c.1372G>A (p.Val458Met) n.607G>A n.6070G>A c.168G>A n.462G>A c.1369G>A (p.Val457Met) c.976G>A (p.Val326Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209239G>C | CA358950652 | CYP4V2,KLKB1 | c.1372G>C (p.Val458Leu) n.607G>C n.6070G>C c.168G>C n.462G>C c.1369G>C (p.Val457Leu) c.976G>C (p.Val326Leu) | |
4 | g.186209239G= | CA1519891487 | CYP4V2,KLKB1 | c.1372G= (p.Val458=) n.607G= n.6070G= c.168G= n.462G= c.1369G= (p.Val457=) c.976G= (p.Val326=) | |
4 | g.186209239G>T | CA358950653 | CYP4V2,KLKB1 | c.1372G>T (p.Val458Leu) n.607G>T n.6070G>T c.168G>T n.462G>T c.1369G>T (p.Val457Leu) c.976G>T (p.Val326Leu) | |
4 | g.186209240T>A | CA358950654 | CYP4V2,KLKB1 | c.1373T>A (p.Val458Glu) n.608T>A n.6071T>A c.169T>A n.463T>A c.1370T>A (p.Val457Glu) c.977T>A (p.Val326Glu) | |
4 | g.186209240T>C | CA358950655 | CYP4V2,KLKB1 | c.1373T>C (p.Val458Ala) n.608T>C n.6071T>C c.169T>C n.463T>C c.1370T>C (p.Val457Ala) c.977T>C (p.Val326Ala) | |
4 | g.186209240T>G | CA358950656 | CYP4V2,KLKB1 | c.1373T>G (p.Val458Gly) n.608T>G n.6071T>G c.169T>G n.463T>G c.1370T>G (p.Val457Gly) c.977T>G (p.Val326Gly) | |
4 | g.186209241G>A | CA442882889 | CYP4V2,KLKB1 | c.1374G>A (p.Val458=) n.609G>A n.6072G>A c.170G>A n.464G>A c.1371G>A (p.Val457=) c.978G>A (p.Val326=) | gnomAD v4 |
4 | g.186209241G>C | CA442882890 | CYP4V2,KLKB1 | c.1374G>C (p.Val458=) n.609G>C n.6072G>C c.170G>C n.464G>C c.1371G>C (p.Val457=) c.978G>C (p.Val326=) | |
4 | g.186209241G>T | CA442882892 | CYP4V2,KLKB1 | c.1374G>T (p.Val458=) n.609G>T n.6072G>T c.170G>T n.464G>T c.1371G>T (p.Val457=) c.978G>T (p.Val326=) | gnomAD v4 |
4 | g.186209242C>A | CA358950657 | CYP4V2,KLKB1 | c.1375C>A (p.Pro459Thr) n.610C>A n.6073C>A c.171C>A n.465C>A c.1372C>A (p.Pro458Thr) c.979C>A (p.Pro327Thr) | gnomAD v4 |
4 | g.186209242C= | CA1519891488 | CYP4V2,KLKB1 | c.1375C= (p.Pro459=) n.610C= n.6073C= c.171C= n.465C= c.1372C= (p.Pro458=) c.979C= (p.Pro327=) | |
4 | g.186209242C>G | CA358950658 | CYP4V2,KLKB1 | c.1375C>G (p.Pro459Ala) n.610C>G n.6073C>G c.171C>G n.465C>G c.1372C>G (p.Pro458Ala) c.979C>G (p.Pro327Ala) | |
4 | g.186209242C>T | CA358950659 | CYP4V2,KLKB1 | c.1375C>T (p.Pro459Ser) n.610C>T n.6073C>T c.171C>T n.465C>T c.1372C>T (p.Pro458Ser) c.979C>T (p.Pro327Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
4 | g.186209243C>A | CA358950660 | CYP4V2,KLKB1 | c.1376C>A (p.Pro459His) n.611C>A n.6074C>A c.172C>A n.466C>A c.1373C>A (p.Pro458His) c.980C>A (p.Pro327His) | ClinVar dbSNP |
4 | g.186209243C= | CA1519891489 | CYP4V2,KLKB1 | c.1376C= (p.Pro459=) n.611C= n.6074C= c.172C= n.466C= c.1373C= (p.Pro458=) c.980C= (p.Pro327=) | |
4 | g.186209243C>G | CA358950661 | CYP4V2,KLKB1 | c.1376C>G (p.Pro459Arg) n.611C>G n.6074C>G c.172C>G n.466C>G c.1373C>G (p.Pro458Arg) c.980C>G (p.Pro327Arg) | |
4 | g.186209243C>T | CA358950662 | CYP4V2,KLKB1 | c.1376C>T (p.Pro459Leu) n.611C>T n.6074C>T c.172C>T n.466C>T c.1373C>T (p.Pro458Leu) c.980C>T (p.Pro327Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.186209243_186209246delinsCCTT | CA1519891490 | CYP4V2,KLKB1 | c.1376_1379delinsCCTT (p.Pro459=) n.611_614delinsCCTT n.6074_6077delinsCCTT c.172_175delinsCCTT n.466_469delinsCCTT c.1373_1376delinsCCTT (p.Pro458=) c.980_983delinsCCTT (p.Pro327=) | |
4 | g.186209244C>A | CA442882902 | CYP4V2,KLKB1 | c.1377C>A (p.Pro459=) n.612C>A n.6075C>A c.173C>A n.467C>A c.1374C>A (p.Pro458=) c.981C>A (p.Pro327=) | |
4 | g.186209244C>G | CA442882906 | CYP4V2,KLKB1 | c.1377C>G (p.Pro459=) n.612C>G n.6075C>G c.173C>G n.467C>G c.1374C>G (p.Pro458=) c.981C>G (p.Pro327=) | |
4 | g.186209244C>T | CA442882904 | CYP4V2,KLKB1 | c.1377C>T (p.Pro459=) n.612C>T n.6075C>T c.173C>T n.467C>T c.1374C>T (p.Pro458=) c.981C>T (p.Pro327=) | ClinVar |
4 | g.186209246_186209248del | CA792328541 | CYP4V2,KLKB1 | c.1379_1381del (p.Phe460del) n.614_616del n.6077_6079del c.175_177del n.469_471del c.1376_1378del (p.Phe459del) c.983_985del (p.Phe328del) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186209245T>A | CA358950665 | CYP4V2,KLKB1 | c.1378T>A (p.Phe460Ile) n.613T>A n.6076T>A c.174T>A n.468T>A c.1375T>A (p.Phe459Ile) c.982T>A (p.Phe328Ile) | |
4 | g.186209245T>C | CA358950663 | CYP4V2,KLKB1 | c.1378T>C (p.Phe460Leu) n.613T>C n.6076T>C c.174T>C n.468T>C c.1375T>C (p.Phe459Leu) c.982T>C (p.Phe328Leu) | ClinVar dbSNP gnomAD v4 |
4 | g.186209245T>G | CA358950664 | CYP4V2,KLKB1 | c.1378T>G (p.Phe460Val) n.613T>G n.6076T>G c.174T>G n.468T>G c.1375T>G (p.Phe459Val) c.982T>G (p.Phe328Val) | |
4 | g.186209245T= | CA1519891491 | CYP4V2,KLKB1 | c.1378T= (p.Phe460=) n.613T= n.6076T= c.174T= n.468T= c.1375T= (p.Phe459=) c.982T= (p.Phe328=) |