| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186196940_186196976del | CA2695204073 | CYP4V2 | c.414_450del (p.Ser138ArgfsTer14) n.853_889del c.18_54del (p.Ser6ArgfsTer14) | |
| 4 | g.186196944G>A | CA358947249 | CYP4V2 | c.418G>A (p.Gly140Arg) n.857G>A c.22G>A (p.Gly8Arg) | |
| 4 | g.186196944G>C | CA358947248 | CYP4V2 | c.418G>C (p.Gly140Arg) n.857G>C c.22G>C (p.Gly8Arg) | |
| 4 | g.186196944G>T | CA358947247 | CYP4V2 | c.418G>T (p.Gly140Ter) n.857G>T c.22G>T (p.Gly8Ter) | |
| 4 | g.186196945G>A | CA358947250 | CYP4V2 | c.419G>A (p.Gly140Glu) n.858G>A c.23G>A (p.Gly8Glu) | |
| 4 | g.186196945G>C | CA358947252 | CYP4V2 | c.419G>C (p.Gly140Ala) n.858G>C c.23G>C (p.Gly8Ala) | |
| 4 | g.186196945G>T | CA358947251 | CYP4V2 | c.419G>T (p.Gly140Val) n.858G>T c.23G>T (p.Gly8Val) | |
| 4 | g.186196946A>C | CA442638850 | CYP4V2 | c.420A>C (p.Gly140=) n.859A>C c.24A>C (p.Gly8=) | |
| 4 | g.186196946A>G | CA442638851 | CYP4V2 | c.420A>G (p.Gly140=) n.859A>G c.24A>G (p.Gly8=) | |
| 4 | g.186196946A>T | CA442638852 | CYP4V2 | c.420A>T (p.Gly140=) n.859A>T c.24A>T (p.Gly8=) | |
| 4 | g.186196947A>C | CA358947253 | CYP4V2 | c.421A>C (p.Asn141His) n.860A>C c.25A>C (p.Asn9His) | |
| 4 | g.186196947A>G | CA358947255 | CYP4V2 | c.421A>G (p.Asn141Asp) n.860A>G c.25A>G (p.Asn9Asp) | |
| 4 | g.186196947A>T | CA358947254 | CYP4V2 | c.421A>T (p.Asn141Tyr) n.860A>T c.25A>T (p.Asn9Tyr) | |
| 4 | g.186196948A= | CA1519918267 | CYP4V2 | c.422A= (p.Asn141=) n.861A= c.26A= (p.Asn9=) | |
| 4 | g.186196948A>C | CA358947256 | CYP4V2 | c.422A>C (p.Asn141Thr) n.861A>C c.26A>C (p.Asn9Thr) | |
| 4 | g.186196948A>G | CA3162556 | CYP4V2 | c.422A>G (p.Asn141Ser) n.861A>G c.26A>G (p.Asn9Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186196948A>T | CA358947257 | CYP4V2 | c.422A>T (p.Asn141Ile) n.861A>T c.26A>T (p.Asn9Ile) | |
| 4 | g.186196949C>A | CA3162558 | CYP4V2 | c.423C>A (p.Asn141Lys) n.862C>A c.27C>A (p.Asn9Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186196949C= | CA1519918275 | CYP4V2 | c.423C= (p.Asn141=) n.862C= c.27C= (p.Asn9=) | |
| 4 | g.186196949C>G | CA358947258 | CYP4V2 | c.423C>G (p.Asn141Lys) n.862C>G c.27C>G (p.Asn9Lys) | ClinVar dbSNP |
| 4 | g.186196949C>T | CA3162557 | CYP4V2 | c.423C>T (p.Asn141=) n.862C>T c.27C>T (p.Asn9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186196949_186196953delinsCAAAT | CA1519918274 | CYP4V2 | c.423_427delinsCAAAT (p.Asn141=) n.862_866delinsCAAAT c.27_31delinsCAAAT (p.Asn9=) | |
| 4 | g.186196950A= | CA1519918281 | CYP4V2 | c.424A= (p.Lys142=) n.863A= c.28A= (p.Lys10=) | |
| 4 | g.186196950A>C | CA358947259 | CYP4V2 | c.424A>C (p.Lys142Gln) n.863A>C c.28A>C (p.Lys10Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186196950A>G | CA358947260 | CYP4V2 | c.424A>G (p.Lys142Glu) n.863A>G c.28A>G (p.Lys10Glu) | |
| 4 | g.186196950A>T | CA358947261 | CYP4V2 | c.424A>T (p.Lys142Ter) n.863A>T c.28A>T (p.Lys10Ter) | |
| 4 | g.186196950_186196953del | CA557395940 | CYP4V2 | c.424_427del (p.Lys142GlyfsTer8) n.863_866del c.28_31del (p.Lys10GlyfsTer8) | dbSNP gnomAD v2 |
| 4 | g.186196951A= | CA1519918285 | CYP4V2 | c.425A= (p.Lys142=) n.864A= c.29A= (p.Lys10=) | |
| 4 | g.186196951A>C | CA358947262 | CYP4V2 | c.425A>C (p.Lys142Thr) n.864A>C c.29A>C (p.Lys10Thr) | |
| 4 | g.186196951A>G | CA358947263 | CYP4V2 | c.425A>G (p.Lys142Arg) n.864A>G c.29A>G (p.Lys10Arg) | |
| 4 | g.186196951A>T | CA3162559 | CYP4V2 | c.425A>T (p.Lys142Ile) n.864A>T c.29A>T (p.Lys10Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186196952A= | CA1519918291 | CYP4V2 | c.426A= (p.Lys142=) n.865A= c.30A= (p.Lys10=) | |
| 4 | g.186196952A>C | CA358947264 | CYP4V2 | c.426A>C (p.Lys142Asn) n.865A>C c.30A>C (p.Lys10Asn) | |
| 4 | g.186196952A>G | CA442638853 | CYP4V2 | c.426A>G (p.Lys142=) n.865A>G c.30A>G (p.Lys10=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186196952A>T | CA358947265 | CYP4V2 | c.426A>T (p.Lys142Asn) n.865A>T c.30A>T (p.Lys10Asn) | |
| 4 | g.186196953T>A | CA358947266 | CYP4V2 | c.427T>A (p.Trp143Arg) n.866T>A c.31T>A (p.Trp11Arg) | |
| 4 | g.186196953T>C | CA358947267 | CYP4V2 | c.427T>C (p.Trp143Arg) n.866T>C c.31T>C (p.Trp11Arg) | |
| 4 | g.186196953T>G | CA358947268 | CYP4V2 | c.427T>G (p.Trp143Gly) n.866T>G c.31T>G (p.Trp11Gly) | |
| 4 | g.186196954G>A | CA358947269 | CYP4V2 | c.428G>A (p.Trp143Ter) n.867G>A c.32G>A (p.Trp11Ter) | |
| 4 | g.186196954G>C | CA358947270 | CYP4V2 | c.428G>C (p.Trp143Ser) n.867G>C c.32G>C (p.Trp11Ser) | |
| 4 | g.186196954G>T | CA358947271 | CYP4V2 | c.428G>T (p.Trp143Leu) n.867G>T c.32G>T (p.Trp11Leu) | |
| 4 | g.186196955G>A | CA358947272 | CYP4V2 | c.429G>A (p.Trp143Ter) n.868G>A c.33G>A (p.Trp11Ter) | dbSNP gnomAD v4 |
| 4 | g.186196955G>C | CA358947273 | CYP4V2 | c.429G>C (p.Trp143Cys) n.868G>C c.33G>C (p.Trp11Cys) | |
| 4 | g.186196955G= | CA1519918296 | CYP4V2 | c.429G= (p.Trp143=) n.868G= c.33G= (p.Trp11=) | |
| 4 | g.186196955G>T | CA358947274 | CYP4V2 | c.429G>T (p.Trp143Cys) n.868G>T c.33G>T (p.Trp11Cys) | |
| 4 | g.186196956C>A | CA358947275 | CYP4V2 | c.430C>A (p.Arg144Ser) n.869C>A c.34C>A (p.Arg12Ser) | dbSNP gnomAD v4 |
| 4 | g.186196956C= | CA1519918305 | CYP4V2 | c.430C= (p.Arg144=) n.869C= c.34C= (p.Arg12=) | |
| 4 | g.186196956C>G | CA358947276 | CYP4V2 | c.430C>G (p.Arg144Gly) n.869C>G c.34C>G (p.Arg12Gly) | |
| 4 | g.186196956C>T | CA3162560 | CYP4V2 | c.430C>T (p.Arg144Cys) n.869C>T c.34C>T (p.Arg12Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.186196957G>A | CA3162561 | CYP4V2 | c.431G>A (p.Arg144His) n.870G>A c.35G>A (p.Arg12His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |