Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186196940_186196976delCA2695204073CYP4V2c.414_450del (p.Ser138ArgfsTer14)
n.853_889del
c.18_54del (p.Ser6ArgfsTer14)
4g.186196947A>CCA358947253CYP4V2c.421A>C (p.Asn141His)
n.860A>C
c.25A>C (p.Asn9His)
4g.186196947A>GCA358947255CYP4V2c.421A>G (p.Asn141Asp)
n.860A>G
c.25A>G (p.Asn9Asp)
4g.186196947A>TCA358947254CYP4V2c.421A>T (p.Asn141Tyr)
n.860A>T
c.25A>T (p.Asn9Tyr)
4g.186196948A=CA1519918267CYP4V2c.422A= (p.Asn141=)
n.861A=
c.26A= (p.Asn9=)
4g.186196948A>CCA358947256CYP4V2c.422A>C (p.Asn141Thr)
n.861A>C
c.26A>C (p.Asn9Thr)
4g.186196948A>GCA3162556CYP4V2c.422A>G (p.Asn141Ser)
n.861A>G
c.26A>G (p.Asn9Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186196948A>TCA358947257CYP4V2c.422A>T (p.Asn141Ile)
n.861A>T
c.26A>T (p.Asn9Ile)
4g.186196949C>ACA3162558CYP4V2c.423C>A (p.Asn141Lys)
n.862C>A
c.27C>A (p.Asn9Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186196949C=CA1519918275CYP4V2c.423C= (p.Asn141=)
n.862C=
c.27C= (p.Asn9=)
4g.186196949C>GCA358947258CYP4V2c.423C>G (p.Asn141Lys)
n.862C>G
c.27C>G (p.Asn9Lys)
ClinVar dbSNP
4g.186196949C>TCA3162557CYP4V2c.423C>T (p.Asn141=)
n.862C>T
c.27C>T (p.Asn9=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186196949_186196953delinsCAAATCA1519918274CYP4V2c.423_427delinsCAAAT (p.Asn141=)
n.862_866delinsCAAAT
c.27_31delinsCAAAT (p.Asn9=)
4g.186196950A=CA1519918281CYP4V2c.424A= (p.Lys142=)
n.863A=
c.28A= (p.Lys10=)
4g.186196950A>CCA358947259CYP4V2c.424A>C (p.Lys142Gln)
n.863A>C
c.28A>C (p.Lys10Gln)
dbSNP gnomAD v2 gnomAD v4
4g.186196950A>GCA358947260CYP4V2c.424A>G (p.Lys142Glu)
n.863A>G
c.28A>G (p.Lys10Glu)
4g.186196950A>TCA358947261CYP4V2c.424A>T (p.Lys142Ter)
n.863A>T
c.28A>T (p.Lys10Ter)
4g.186196950_186196953delCA557395940CYP4V2c.424_427del (p.Lys142GlyfsTer8)
n.863_866del
c.28_31del (p.Lys10GlyfsTer8)
dbSNP gnomAD v2
4g.186196951A=CA1519918285CYP4V2c.425A= (p.Lys142=)
n.864A=
c.29A= (p.Lys10=)
4g.186196951A>CCA358947262CYP4V2c.425A>C (p.Lys142Thr)
n.864A>C
c.29A>C (p.Lys10Thr)
4g.186196951A>GCA358947263CYP4V2c.425A>G (p.Lys142Arg)
n.864A>G
c.29A>G (p.Lys10Arg)
4g.186196951A>TCA3162559CYP4V2c.425A>T (p.Lys142Ile)
n.864A>T
c.29A>T (p.Lys10Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186196952A=CA1519918291CYP4V2c.426A= (p.Lys142=)
n.865A=
c.30A= (p.Lys10=)
4g.186196952A>CCA358947264CYP4V2c.426A>C (p.Lys142Asn)
n.865A>C
c.30A>C (p.Lys10Asn)
4g.186196952A>GCA442638853CYP4V2c.426A>G (p.Lys142=)
n.865A>G
c.30A>G (p.Lys10=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.186196952A>TCA358947265CYP4V2c.426A>T (p.Lys142Asn)
n.865A>T
c.30A>T (p.Lys10Asn)
4g.186196953T>ACA358947266CYP4V2c.427T>A (p.Trp143Arg)
n.866T>A
c.31T>A (p.Trp11Arg)
4g.186196953T>CCA358947267CYP4V2c.427T>C (p.Trp143Arg)
n.866T>C
c.31T>C (p.Trp11Arg)
4g.186196953T>GCA358947268CYP4V2c.427T>G (p.Trp143Gly)
n.866T>G
c.31T>G (p.Trp11Gly)
4g.186196954G>ACA358947269CYP4V2c.428G>A (p.Trp143Ter)
n.867G>A
c.32G>A (p.Trp11Ter)
4g.186196954G>CCA358947270CYP4V2c.428G>C (p.Trp143Ser)
n.867G>C
c.32G>C (p.Trp11Ser)
4g.186196954G>TCA358947271CYP4V2c.428G>T (p.Trp143Leu)
n.867G>T
c.32G>T (p.Trp11Leu)
4g.186196955G>ACA358947272CYP4V2c.429G>A (p.Trp143Ter)
n.868G>A
c.33G>A (p.Trp11Ter)
dbSNP gnomAD v4
4g.186196955G>CCA358947273CYP4V2c.429G>C (p.Trp143Cys)
n.868G>C
c.33G>C (p.Trp11Cys)
4g.186196955G=CA1519918296CYP4V2c.429G= (p.Trp143=)
n.868G=
c.33G= (p.Trp11=)
4g.186196955G>TCA358947274CYP4V2c.429G>T (p.Trp143Cys)
n.868G>T
c.33G>T (p.Trp11Cys)
4g.186196956C>ACA358947275CYP4V2c.430C>A (p.Arg144Ser)
n.869C>A
c.34C>A (p.Arg12Ser)
dbSNP gnomAD v4
4g.186196956C=CA1519918305CYP4V2c.430C= (p.Arg144=)
n.869C=
c.34C= (p.Arg12=)
4g.186196956C>GCA358947276CYP4V2c.430C>G (p.Arg144Gly)
n.869C>G
c.34C>G (p.Arg12Gly)
4g.186196956C>TCA3162560CYP4V2c.430C>T (p.Arg144Cys)
n.869C>T
c.34C>T (p.Arg12Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.186196957G>ACA3162561CYP4V2c.431G>A (p.Arg144His)
n.870G>A
c.35G>A (p.Arg12His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186196957G>CCA358947278CYP4V2c.431G>C (p.Arg144Pro)
n.870G>C
c.35G>C (p.Arg12Pro)
4g.186196957G=CA1519918316CYP4V2c.431G= (p.Arg144=)
n.870G=
c.35G= (p.Arg12=)
4g.186196957G>TCA358947277CYP4V2c.431G>T (p.Arg144Leu)
n.870G>T
c.35G>T (p.Arg12Leu)
4g.186196958C>ACA442638854CYP4V2c.432C>A (p.Arg144=)
n.871C>A
c.36C>A (p.Arg12=)
4g.186196958C>GCA442638855CYP4V2c.432C>G (p.Arg144=)
n.871C>G
c.36C>G (p.Arg12=)
4g.186196958C>TCA442638856CYP4V2c.432C>T (p.Arg144=)
n.871C>T
c.36C>T (p.Arg12=)
ClinVar dbSNP gnomAD v4
4g.186196959T>ACA358947279CYP4V2c.433T>A (p.Ser145Thr)
n.872T>A
c.37T>A (p.Ser13Thr)
4g.186196959T>CCA358947280CYP4V2c.433T>C (p.Ser145Pro)
n.872T>C
c.37T>C (p.Ser13Pro)
4g.186196959T>GCA358947281CYP4V2c.433T>G (p.Ser145Ala)
n.872T>G
c.37T>G (p.Ser13Ala)
4g.186196960C>ACA358947282CYP4V2c.434C>A (p.Ser145Tyr)
n.873C>A
c.38C>A (p.Ser13Tyr)
4g.186196960C=CA1519918322CYP4V2c.434C= (p.Ser145=)
n.873C=
c.38C= (p.Ser13=)
4g.186196960C>GCA358947283CYP4V2c.434C>G (p.Ser145Cys)
n.873C>G
c.38C>G (p.Ser13Cys)
4g.186196960C>TCA358947284CYP4V2c.434C>T (p.Ser145Phe)
n.873C>T
c.38C>T (p.Ser13Phe)
dbSNP COSMIC
4g.186196961C>ACA442638857CYP4V2c.435C>A (p.Ser145=)
n.874C>A
c.39C>A (p.Ser13=)
4g.186196961C>GCA442638859CYP4V2c.435C>G (p.Ser145=)
n.874C>G
c.39C>G (p.Ser13=)
4g.186196961C>TCA442638858CYP4V2c.435C>T (p.Ser145=)
n.874C>T
c.39C>T (p.Ser13=)
gnomAD v4
4g.186196962A>CCA442638860CYP4V2c.436A>C (p.Arg146=)
n.875A>C
c.40A>C (p.Arg14=)
4g.186196962A>GCA358947285CYP4V2c.436A>G (p.Arg146Gly)
n.875A>G
c.40A>G (p.Arg14Gly)
4g.186196962A>TCA358947286CYP4V2c.436A>T (p.Arg146Trp)
n.875A>T
c.40A>T (p.Arg14Trp)
4g.186196963G>ACA3162562CYP4V2c.437G>A (p.Arg146Lys)
n.876G>A
c.41G>A (p.Arg14Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186196963G>CCA358947287CYP4V2c.437G>C (p.Arg146Thr)
n.876G>C
c.41G>C (p.Arg14Thr)
4g.186196963G=CA1519918326CYP4V2c.437G= (p.Arg146=)
n.876G=
c.41G= (p.Arg14=)
4g.186196963G>TCA358947288CYP4V2c.437G>T (p.Arg146Met)
n.876G>T
c.41G>T (p.Arg14Met)
4g.186196964G>ACA442638861CYP4V2c.438G>A (p.Arg146=)
n.877G>A
c.42G>A (p.Arg14=)
4g.186196964G>CCA358947289CYP4V2c.438G>C (p.Arg146Ser)
n.877G>C
c.42G>C (p.Arg14Ser)
4g.186196964G>TCA358947290CYP4V2c.438G>T (p.Arg146Ser)
n.877G>T
c.42G>T (p.Arg14Ser)
4g.186196965A>CCA442638862CYP4V2c.439A>C (p.Arg147=)
n.878A>C
c.43A>C (p.Arg15=)
4g.186196965A>GCA358947291CYP4V2c.439A>G (p.Arg147Gly)
n.878A>G
c.43A>G (p.Arg15Gly)
4g.186196965A>TCA358947292CYP4V2c.439A>T (p.Arg147Ter)
n.878A>T
c.43A>T (p.Arg15Ter)
4g.186196966G>ACA358947293CYP4V2c.440G>A (p.Arg147Lys)
n.879G>A
c.44G>A (p.Arg15Lys)
4g.186196966G>CCA358947294CYP4V2c.440G>C (p.Arg147Thr)
n.879G>C
c.44G>C (p.Arg15Thr)
dbSNP
4g.186196966G>TCA358947295CYP4V2c.440G>T (p.Arg147Ile)
n.879G>T
c.44G>T (p.Arg15Ile)
4g.186196967A>CCA358947296CYP4V2c.441A>C (p.Arg147Ser)
n.880A>C
c.45A>C (p.Arg15Ser)
4g.186196967A>GCA442638863CYP4V2c.441A>G (p.Arg147=)
n.880A>G
c.45A>G (p.Arg15=)
4g.186196967A>TCA358947297CYP4V2c.441A>T (p.Arg147Ser)
n.880A>T
c.45A>T (p.Arg15Ser)
4g.186196968A>CCA358947298CYP4V2c.442A>C (p.Lys148Gln)
n.881A>C
c.46A>C (p.Lys16Gln)
4g.186196968A>GCA358947299CYP4V2c.442A>G (p.Lys148Glu)
n.881A>G
c.46A>G (p.Lys16Glu)
gnomAD v4
4g.186196968A>TCA358947300CYP4V2c.442A>T (p.Lys148Ter)
n.881A>T
c.46A>T (p.Lys16Ter)
4g.186196969A=CA1519918332CYP4V2c.443A= (p.Lys148=)
n.882A=
c.47A= (p.Lys16=)
4g.186196969A>CCA358947301CYP4V2c.443A>C (p.Lys148Thr)
n.882A>C
c.47A>C (p.Lys16Thr)
4g.186196969A>GCA358947302CYP4V2c.443A>G (p.Lys148Arg)
n.882A>G
c.47A>G (p.Lys16Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186196969A>TCA358947303CYP4V2c.443A>T (p.Lys148Met)
n.882A>T
c.47A>T (p.Lys16Met)
4g.186196970G>ACA442638864CYP4V2c.444G>A (p.Lys148=)
n.883G>A
c.48G>A (p.Lys16=)
4g.186196970G>CCA358947304CYP4V2c.444G>C (p.Lys148Asn)
n.883G>C
c.48G>C (p.Lys16Asn)
4g.186196970G>TCA358947305CYP4V2c.444G>T (p.Lys148Asn)
n.883G>T
c.48G>T (p.Lys16Asn)
4g.186196971A=CA1519918333CYP4V2c.445A= (p.Met149=)
n.884A=
c.49A= (p.Met17=)
4g.186196971A>CCA358947306CYP4V2c.445A>C (p.Met149Leu)
n.884A>C
c.49A>C (p.Met17Leu)
4g.186196971A>GCA358947308CYP4V2c.445A>G (p.Met149Val)
n.884A>G
c.49A>G (p.Met17Val)
dbSNP gnomAD v3 gnomAD v4
4g.186196971A>TCA358947307CYP4V2c.445A>T (p.Met149Leu)
n.884A>T
c.49A>T (p.Met17Leu)
gnomAD v4
4g.186196972T>ACA358947309CYP4V2c.446T>A (p.Met149Lys)
n.885T>A
c.50T>A (p.Met17Lys)
4g.186196972T>CCA358947310CYP4V2c.446T>C (p.Met149Thr)
n.885T>C
c.50T>C (p.Met17Thr)
gnomAD v4
4g.186196972T>GCA358947311CYP4V2c.446T>G (p.Met149Arg)
n.885T>G
c.50T>G (p.Met17Arg)
4g.186196973G>ACA358947312CYP4V2c.447G>A (p.Met149Ile)
n.886G>A
c.51G>A (p.Met17Ile)
dbSNP gnomAD v3 gnomAD v4
4g.186196973G>CCA358947313CYP4V2c.447G>C (p.Met149Ile)
n.886G>C
c.51G>C (p.Met17Ile)
4g.186196973G=CA1519918337CYP4V2c.447G= (p.Met149=)
n.886G=
c.51G= (p.Met17=)
4g.186196973G>TCA358947314CYP4V2c.447G>T (p.Met149Ile)
n.886G>T
c.51G>T (p.Met17Ile)
COSMIC
4g.186196974T>ACA358947315CYP4V2c.448T>A (p.Leu150Ile)
n.887T>A
c.52T>A (p.Leu18Ile)
4g.186196974T>CCA442638865CYP4V2c.448T>C (p.Leu150=)
n.887T>C
c.52T>C (p.Leu18=)
4g.186196974T>GCA358947316CYP4V2c.448T>G (p.Leu150Val)
n.887T>G
c.52T>G (p.Leu18Val)
4g.186196975T>ACA358947317CYP4V2c.449T>A (p.Leu150Ter)
n.888T>A
c.53T>A (p.Leu18Ter)
4g.186196975T>CCA358947318CYP4V2c.449T>C (p.Leu150Ser)
n.888T>C
c.53T>C (p.Leu18Ser)
4g.186196975T>GCA358947319CYP4V2c.449T>G (p.Leu150Ter)
n.888T>G
c.53T>G (p.Leu18Ter)
4g.186196975_186196978delinsTAACCA1519918342CYP4V2c.449_452delinsTAAC (p.Leu150=)
n.888_891delinsTAAC
c.53_56delinsTAAC (p.Leu18=)
4g.186196976A=CA1519918349CYP4V2c.450A= (p.Leu150=)
n.889A=
c.54A= (p.Leu18=)
4g.186196976A>CCA358947320CYP4V2c.450A>C (p.Leu150Phe)
n.889A>C
c.54A>C (p.Leu18Phe)
4g.186196976A>GCA442638866CYP4V2c.450A>G (p.Leu150=)
n.889A>G
c.54A>G (p.Leu18=)
dbSNP
4g.186196976A>TCA358947321CYP4V2c.450A>T (p.Leu150Phe)
n.889A>T
c.54A>T (p.Leu18Phe)
4g.186196977_186196979delCA557395942CYP4V2c.451_453del (p.Thr151del)
n.890_892del
c.55_57del (p.Thr19del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186196977A>CCA358947322CYP4V2c.451A>C (p.Thr151Pro)
n.890A>C
c.55A>C (p.Thr19Pro)
4g.186196977A>GCA358947324CYP4V2c.451A>G (p.Thr151Ala)
n.890A>G
c.55A>G (p.Thr19Ala)
4g.186196977A>TCA358947323CYP4V2c.451A>T (p.Thr151Ser)
n.890A>T
c.55A>T (p.Thr19Ser)
4g.186196978C>ACA358947325CYP4V2c.452C>A (p.Thr151Lys)
n.891C>A
c.56C>A (p.Thr19Lys)
4g.186196978C=CA1519918356CYP4V2c.452C= (p.Thr151=)
n.891C=
c.56C= (p.Thr19=)
4g.186196978C>GCA358947326CYP4V2c.452C>G (p.Thr151Arg)
n.891C>G
c.56C>G (p.Thr19Arg)
4g.186196978C>TCA358947327CYP4V2c.452C>T (p.Thr151Ile)
n.891C>T
c.56C>T (p.Thr19Ile)
dbSNP gnomAD v2 gnomAD v4
4g.186196979A>CCA442638868CYP4V2c.453A>C (p.Thr151=)
n.892A>C
c.57A>C (p.Thr19=)
4g.186196979A>GCA442638869CYP4V2c.453A>G (p.Thr151=)
n.892A>G
c.57A>G (p.Thr19=)
4g.186196979A>TCA442638870CYP4V2c.453A>T (p.Thr151=)
n.892A>T
c.57A>T (p.Thr19=)
4g.186196980C>ACA358947328CYP4V2c.454C>A (p.Pro152Thr)
n.893C>A
c.58C>A (p.Pro20Thr)
4g.186196980C=CA1519918360CYP4V2c.454C= (p.Pro152=)
n.893C=
c.58C= (p.Pro20=)
4g.186196980C>GCA3162563CYP4V2c.454C>G (p.Pro152Ala)
n.893C>G
c.58C>G (p.Pro20Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186196980C>TCA358947329CYP4V2c.454C>T (p.Pro152Ser)
n.893C>T
c.58C>T (p.Pro20Ser)
dbSNP gnomAD v4
4g.186196981C>ACA3162564CYP4V2c.455C>A (p.Pro152His)
n.894C>A
c.59C>A (p.Pro20His)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186196981C=CA1519918366CYP4V2c.455C= (p.Pro152=)
n.894C=
c.59C= (p.Pro20=)
4g.186196981C>GCA358947330CYP4V2c.455C>G (p.Pro152Arg)
n.894C>G
c.59C>G (p.Pro20Arg)
4g.186196981C>TCA358947331CYP4V2c.455C>T (p.Pro152Leu)
n.894C>T
c.59C>T (p.Pro20Leu)
gnomAD v4
4g.186196982C>ACA442638872CYP4V2c.456C>A (p.Pro152=)
n.895C>A
c.60C>A (p.Pro20=)
4g.186196982C=CA1519918369CYP4V2c.456C= (p.Pro152=)
n.895C=
c.60C= (p.Pro20=)
4g.186196982C>GCA442638871CYP4V2c.456C>G (p.Pro152=)
n.895C>G
c.60C>G (p.Pro20=)
4g.186196982C>TCA3162565CYP4V2c.456C>T (p.Pro152=)
n.895C>T
c.60C>T (p.Pro20=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186196983A=CA1519918371CYP4V2c.457A= (p.Thr153=)
n.896A=
c.61A= (p.Thr21=)
4g.186196983A>CCA358947334CYP4V2c.457A>C (p.Thr153Pro)
n.896A>C
c.61A>C (p.Thr21Pro)
4g.186196983A>GCA358947333CYP4V2c.457A>G (p.Thr153Ala)
n.896A>G
c.61A>G (p.Thr21Ala)
dbSNP
4g.186196983A>TCA358947332CYP4V2c.457A>T (p.Thr153Ser)
n.896A>T
c.61A>T (p.Thr21Ser)
4g.186196984C>ACA358947335CYP4V2c.458C>A (p.Thr153Asn)
n.897C>A
c.62C>A (p.Thr21Asn)
4g.186196984C>GCA358947336CYP4V2c.458C>G (p.Thr153Ser)
n.897C>G
c.62C>G (p.Thr21Ser)
4g.186196984C>TCA358947337CYP4V2c.458C>T (p.Thr153Ile)
n.897C>T
c.62C>T (p.Thr21Ile)
4g.186196985T>ACA442638873CYP4V2c.459T>A (p.Thr153=)
n.898T>A
c.63T>A (p.Thr21=)
4g.186196985T>CCA112124429CYP4V2c.459T>C (p.Thr153=)
n.898T>C
c.63T>C (p.Thr21=)
dbSNP gnomAD v4
4g.186196985T>GCA442638874CYP4V2c.459T>G (p.Thr153=)
n.898T>G
c.63T>G (p.Thr21=)
4g.186196985T=CA1519918375CYP4V2c.459T= (p.Thr153=)
n.898T=
c.63T= (p.Thr21=)
4g.186196986T>ACA358947338CYP4V2c.460T>A (p.Phe154Ile)
n.899T>A
c.64T>A (p.Phe22Ile)
4g.186196986T>CCA358947339CYP4V2c.460T>C (p.Phe154Leu)
n.899T>C
c.64T>C (p.Phe22Leu)
4g.186196986T>GCA358947340CYP4V2c.460T>G (p.Phe154Val)
n.899T>G
c.64T>G (p.Phe22Val)
4g.186196987T>ACA358947343CYP4V2c.461T>A (p.Phe154Tyr)
n.900T>A
c.65T>A (p.Phe22Tyr)
4g.186196987T>CCA358947341CYP4V2c.461T>C (p.Phe154Ser)
n.900T>C
c.65T>C (p.Phe22Ser)
gnomAD v4
4g.186196987T>GCA358947342CYP4V2c.461T>G (p.Phe154Cys)
n.900T>G
c.65T>G (p.Phe22Cys)
4g.186196988C>ACA358947344CYP4V2c.462C>A (p.Phe154Leu)
n.901C>A
c.66C>A (p.Phe22Leu)
4g.186196988C=CA1519918378CYP4V2c.462C= (p.Phe154=)
n.901C=
c.66C= (p.Phe22=)
4g.186196988C>GCA358947345CYP4V2c.462C>G (p.Phe154Leu)
n.901C>G
c.66C>G (p.Phe22Leu)
4g.186196988C>TCA442638875CYP4V2c.462C>T (p.Phe154=)
n.901C>T
c.66C>T (p.Phe22=)
dbSNP gnomAD v2 gnomAD v4
4g.186196989C>ACA358947346CYP4V2c.463C>A (p.His155Asn)
n.902C>A
c.67C>A (p.His23Asn)
4g.186196989C=CA1519918386CYP4V2c.463C= (p.His155=)
n.902C=
c.67C= (p.His23=)
4g.186196989C>GCA358947347CYP4V2c.463C>G (p.His155Asp)
n.902C>G
c.67C>G (p.His23Asp)
4g.186196989C>TCA358947348CYP4V2c.463C>T (p.His155Tyr)
n.902C>T
c.67C>T (p.His23Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186196990A=CA1519918393CYP4V2c.464A= (p.His155=)
n.903A=
c.68A= (p.His23=)
4g.186196990A>CCA358947349CYP4V2c.464A>C (p.His155Pro)
n.903A>C
c.68A>C (p.His23Pro)
4g.186196990A>GCA3162566CYP4V2c.464A>G (p.His155Arg)
n.903A>G
c.68A>G (p.His23Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186196990A>TCA358947350CYP4V2c.464A>T (p.His155Leu)
n.903A>T
c.68A>T (p.His23Leu)
4g.186196990_186196991delinsATCA1519918398CYP4V2c.464_465delinsAT (p.His155=)
n.903_904delinsAT
c.68_69delinsAT (p.His23=)
4g.186196991T>ACA358947351CYP4V2c.465T>A (p.His155Gln)
n.904T>A
c.69T>A (p.His23Gln)
4g.186196991T>CCA3162567CYP4V2c.465T>C (p.His155=)
n.904T>C
c.69T>C (p.His23=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186196991T>GCA358947352CYP4V2c.465T>G (p.His155Gln)
n.904T>G
c.69T>G (p.His23Gln)
gnomAD v4
4g.186196991T=CA1519918407CYP4V2c.465T= (p.His155=)
n.904T=
c.69T= (p.His23=)
4g.186196994delCA557395943CYP4V2c.468del (p.Phe156LeufsTer8)
n.907del
c.72del (p.Phe24LeufsTer8)
dbSNP gnomAD v2 gnomAD v4
4g.186196992T>ACA358947353CYP4V2c.466T>A (p.Phe156Ile)
n.905T>A
c.70T>A (p.Phe24Ile)
4g.186196992T>CCA358947354CYP4V2c.466T>C (p.Phe156Leu)
n.905T>C
c.70T>C (p.Phe24Leu)
4g.186196992T>GCA3162568CYP4V2c.466T>G (p.Phe156Val)
n.905T>G
c.70T>G (p.Phe24Val)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186196992T=CA1519918415CYP4V2c.466T= (p.Phe156=)
n.905T=
c.70T= (p.Phe24=)
4g.186196993T>ACA358947355CYP4V2c.467T>A (p.Phe156Tyr)
n.906T>A
c.71T>A (p.Phe24Tyr)
4g.186196993T>CCA358947356CYP4V2c.467T>C (p.Phe156Ser)
n.906T>C
c.71T>C (p.Phe24Ser)
4g.186196993T>GCA358947357CYP4V2c.467T>G (p.Phe156Cys)
n.906T>G
c.71T>G (p.Phe24Cys)
4g.186196994T>ACA358947358CYP4V2c.468T>A (p.Phe156Leu)
n.907T>A
c.72T>A (p.Phe24Leu)
4g.186196994T>CCA442638879CYP4V2c.468T>C (p.Phe156=)
n.907T>C
c.72T>C (p.Phe24=)
4g.186196994T>GCA358947359CYP4V2c.468T>G (p.Phe156Leu)
n.907T>G
c.72T>G (p.Phe24Leu)
4g.186196995A=CA1519918420CYP4V2c.469A= (p.Thr157=)
n.908A=
c.73A= (p.Thr25=)
4g.186196995A>CCA358947361CYP4V2c.469A>C (p.Thr157Pro)
n.908A>C
c.73A>C (p.Thr25Pro)
4g.186196995A>GCA112124434CYP4V2c.469A>G (p.Thr157Ala)
n.908A>G
c.73A>G (p.Thr25Ala)
dbSNP
4g.186196995A>TCA358947360CYP4V2c.469A>T (p.Thr157Ser)
n.908A>T
c.73A>T (p.Thr25Ser)
4g.186196996C>ACA358947363CYP4V2c.470C>A (p.Thr157Asn)
n.909C>A
c.74C>A (p.Thr25Asn)
4g.186196996C>GCA358947362CYP4V2c.470C>G (p.Thr157Ser)
n.909C>G
c.74C>G (p.Thr25Ser)
4g.186196996C>TCA358947364CYP4V2c.470C>T (p.Thr157Ile)
n.909C>T
c.74C>T (p.Thr25Ile)
4g.186196997C>ACA442638885CYP4V2c.471C>A (p.Thr157=)
n.910C>A
c.75C>A (p.Thr25=)
4g.186196997C=CA1519918425CYP4V2c.471C= (p.Thr157=)
n.910C=
c.75C= (p.Thr25=)
4g.186196997C>GCA442638883CYP4V2c.471C>G (p.Thr157=)
n.910C>G
c.75C>G (p.Thr25=)
4g.186196997C>TCA442638884CYP4V2c.471C>T (p.Thr157=)
n.910C>T
c.75C>T (p.Thr25=)
dbSNP gnomAD v2 gnomAD v4
4g.186196998A=CA1519918428CYP4V2c.472A= (p.Ile158=)
n.911A=
c.76A= (p.Ile26=)
4g.186196998A>CCA358947365CYP4V2c.472A>C (p.Ile158Leu)
n.911A>C
c.76A>C (p.Ile26Leu)
4g.186196998A>GCA3162569CYP4V2c.472A>G (p.Ile158Val)
n.911A>G
c.76A>G (p.Ile26Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186196998A>TCA358947366CYP4V2c.472A>T (p.Ile158Phe)
n.911A>T
c.76A>T (p.Ile26Phe)
4g.186196999T>ACA358947367CYP4V2c.473T>A (p.Ile158Asn)
n.912T>A
c.77T>A (p.Ile26Asn)
4g.186196999T>CCA358947368CYP4V2c.473T>C (p.Ile158Thr)
n.912T>C
c.77T>C (p.Ile26Thr)
4g.186196999T>GCA358947369CYP4V2c.473T>G (p.Ile158Ser)
n.912T>G
c.77T>G (p.Ile26Ser)
4g.186197000T>ACA442638886CYP4V2c.474T>A (p.Ile158=)
n.913T>A
c.78T>A (p.Ile26=)
4g.186197000T>CCA442638888CYP4V2c.474T>C (p.Ile158=)
n.913T>C
c.78T>C (p.Ile26=)
gnomAD v4
4g.186197000T>GCA358947370CYP4V2c.474T>G (p.Ile158Met)
n.913T>G
c.78T>G (p.Ile26Met)
ClinVar dbSNP
4g.186197001C>ACA358947372CYP4V2c.475C>A (p.Leu159Met)
n.914C>A
c.79C>A (p.Leu27Met)
dbSNP
4g.186197001C=CA1519918433CYP4V2c.475C= (p.Leu159=)
n.914C=
c.79C= (p.Leu27=)
4g.186197001C>GCA358947371CYP4V2c.475C>G (p.Leu159Val)
n.914C>G
c.79C>G (p.Leu27Val)
4g.186197001C>TCA442638889CYP4V2c.475C>T (p.Leu159=)
n.914C>T
c.79C>T (p.Leu27=)
dbSNP
4g.186197002T>ACA358947373CYP4V2c.476T>A (p.Leu159Gln)
n.915T>A
c.80T>A (p.Leu27Gln)
4g.186197002T>CCA358947374CYP4V2c.476T>C (p.Leu159Pro)
n.915T>C
c.80T>C (p.Leu27Pro)
4g.186197002T>GCA3162570CYP4V2c.476T>G (p.Leu159Arg)
n.915T>G
c.80T>G (p.Leu27Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186197002T=CA1519918440CYP4V2c.476T= (p.Leu159=)
n.915T=
c.80T= (p.Leu27=)
4g.186197003G>ACA442638890CYP4V2c.477G>A (p.Leu159=)
n.916G>A
c.81G>A (p.Leu27=)
4g.186197003G>CCA442638892CYP4V2c.477G>C (p.Leu159=)
n.916G>C
c.81G>C (p.Leu27=)
4g.186197003G>TCA442638891CYP4V2c.477G>T (p.Leu159=)
n.916G>T
c.81G>T (p.Leu27=)
4g.186197004G>ACA358947375CYP4V2c.478G>A (p.Glu160Lys)
n.917G>A
c.82G>A (p.Glu28Lys)
gnomAD v4 COSMIC
4g.186197004G>CCA358947376CYP4V2c.478G>C (p.Glu160Gln)
n.917G>C
c.82G>C (p.Glu28Gln)
4g.186197004G>TCA358947377CYP4V2c.478G>T (p.Glu160Ter)
n.917G>T
c.82G>T (p.Glu28Ter)
4g.186197005A>CCA358947380CYP4V2c.479A>C (p.Glu160Ala)
n.918A>C
c.83A>C (p.Glu28Ala)
4g.186197005A>GCA358947378CYP4V2c.479A>G (p.Glu160Gly)
n.918A>G
c.83A>G (p.Glu28Gly)
4g.186197005A>TCA358947379CYP4V2c.479A>T (p.Glu160Val)
n.918A>T
c.83A>T (p.Glu28Val)
gnomAD v4
4g.186197006A>CCA358947381CYP4V2c.480A>C (p.Glu160Asp)
n.919A>C
c.84A>C (p.Glu28Asp)
4g.186197006A>GCA442638895CYP4V2c.480A>G (p.Glu160=)
n.919A>G
c.84A>G (p.Glu28=)
gnomAD v4
4g.186197006A>TCA358947382CYP4V2c.480A>T (p.Glu160Asp)
n.919A>T
c.84A>T (p.Glu28Asp)
4g.186197007G>ACA358947383CYP4V2c.481G>A (p.Asp161Asn)
n.920G>A
c.85G>A (p.Asp29Asn)
4g.186197007G>CCA358947384CYP4V2c.481G>C (p.Asp161His)
n.920G>C
c.85G>C (p.Asp29His)
4g.186197007G=CA1519918442CYP4V2c.481G= (p.Asp161=)
n.920G=
c.85G= (p.Asp29=)
4g.186197007G>TCA358947385CYP4V2c.481G>T (p.Asp161Tyr)
n.920G>T
c.85G>T (p.Asp29Tyr)
dbSNP
4g.186197008A>CCA358947386CYP4V2c.482A>C (p.Asp161Ala)
n.921A>C
c.86A>C (p.Asp29Ala)
4g.186197008A>GCA358947387CYP4V2c.482A>G (p.Asp161Gly)
n.921A>G
c.86A>G (p.Asp29Gly)
4g.186197008A>TCA358947388CYP4V2c.482A>T (p.Asp161Val)
n.921A>T
c.86A>T (p.Asp29Val)
ClinVar gnomAD v4
4g.186197009T>ACA358947389CYP4V2c.483T>A (p.Asp161Glu)
n.922T>A
c.87T>A (p.Asp29Glu)
4g.186197009T>CCA442638896CYP4V2c.483T>C (p.Asp161=)
n.922T>C
c.87T>C (p.Asp29=)
dbSNP gnomAD v3 gnomAD v4
4g.186197009T>GCA358947390CYP4V2c.483T>G (p.Asp161Glu)
n.922T>G
c.87T>G (p.Asp29Glu)
4g.186197009T=CA1519918447CYP4V2c.483T= (p.Asp161=)
n.922T=
c.87T= (p.Asp29=)
4g.186197010T>ACA358947391CYP4V2c.484T>A (p.Phe162Ile)
n.923T>A
c.88T>A (p.Phe30Ile)
4g.186197010T>CCA358947392CYP4V2c.484T>C (p.Phe162Leu)
n.923T>C
c.88T>C (p.Phe30Leu)
4g.186197010T>GCA358947393CYP4V2c.484T>G (p.Phe162Val)
n.923T>G
c.88T>G (p.Phe30Val)
4g.186197011T>ACA358947394CYP4V2c.485T>A (p.Phe162Tyr)
n.924T>A
c.89T>A (p.Phe30Tyr)
4g.186197011T>CCA358947396CYP4V2c.485T>C (p.Phe162Ser)
n.924T>C
c.89T>C (p.Phe30Ser)
4g.186197011T>GCA358947395CYP4V2c.485T>G (p.Phe162Cys)
n.924T>G
c.89T>G (p.Phe30Cys)
4g.186197012C>ACA358947397CYP4V2c.486C>A (p.Phe162Leu)
n.925C>A
c.90C>A (p.Phe30Leu)
4g.186197012C=CA1519918454CYP4V2c.486C= (p.Phe162=)
n.925C=
c.90C= (p.Phe30=)
4g.186197012C>GCA112124448CYP4V2c.486C>G (p.Phe162Leu)
n.925C>G
c.90C>G (p.Phe30Leu)
dbSNP
4g.186197012C>TCA442638898CYP4V2c.486C>T (p.Phe162=)
n.925C>T
c.90C>T (p.Phe30=)
4g.186197013T>ACA358947398CYP4V2c.487T>A (p.Leu163Ile)
n.926T>A
c.91T>A (p.Leu31Ile)
4g.186197013T>CCA442638899CYP4V2c.487T>C (p.Leu163=)
n.926T>C
c.91T>C (p.Leu31=)
4g.186197013T>GCA358947399CYP4V2c.487T>G (p.Leu163Val)
n.926T>G
c.91T>G (p.Leu31Val)
4g.186197014T>ACA358947400CYP4V2c.488T>A (p.Leu163Ter)
n.927T>A
c.92T>A (p.Leu31Ter)
4g.186197014T>CCA358947401CYP4V2c.488T>C (p.Leu163Ser)
n.927T>C
c.92T>C (p.Leu31Ser)
dbSNP gnomAD v4
4g.186197014T>GCA358947402CYP4V2c.488T>G (p.Leu163Ter)
n.927T>G
c.92T>G (p.Leu31Ter)
4g.186197014T=CA1519918459CYP4V2c.488T= (p.Leu163=)
n.927T=
c.92T= (p.Leu31=)
4g.186197015A>CCA358947403CYP4V2c.489A>C (p.Leu163Phe)
n.928A>C
c.93A>C (p.Leu31Phe)
4g.186197015A>GCA442638900CYP4V2c.489A>G (p.Leu163=)
n.928A>G
c.93A>G (p.Leu31=)
4g.186197015A>TCA358947404CYP4V2c.489A>T (p.Leu163Phe)
n.928A>T
c.93A>T (p.Leu31Phe)
4g.186197015dupCA2672896879CYP4V2c.489dup (p.Asp164ArgfsTer5)
n.928dup
c.93dup (p.Asp32ArgfsTer5)
gnomAD v4
4g.186197016G>ACA358947405CYP4V2c.490G>A (p.Asp164Asn)
n.929G>A
c.94G>A (p.Asp32Asn)
4g.186197016G>CCA358947406CYP4V2c.490G>C (p.Asp164His)
n.929G>C
c.94G>C (p.Asp32His)
4g.186197016G>TCA358947407CYP4V2c.490G>T (p.Asp164Tyr)
n.929G>T
c.94G>T (p.Asp32Tyr)
4g.186197017A=CA1519918467CYP4V2c.491A= (p.Asp164=)
n.930A=
c.95A= (p.Asp32=)
4g.186197017A>CCA358947409CYP4V2c.491A>C (p.Asp164Ala)
n.930A>C
c.95A>C (p.Asp32Ala)
4g.186197017A>GCA112124451CYP4V2c.491A>G (p.Asp164Gly)
n.930A>G
c.95A>G (p.Asp32Gly)
dbSNP gnomAD v4
4g.186197017A>TCA358947408CYP4V2c.491A>T (p.Asp164Val)
n.930A>T
c.95A>T (p.Asp32Val)
4g.186197019_186197023delCA2672896880CYP4V2c.493_497del (p.Ile165GlufsTer2)
n.932_936del
c.97_101del (p.Ile33GlufsTer2)
gnomAD v4
4g.186197018delCA2695204074CYP4V2c.492del (p.Asp164GlufsTer3)
n.931del
c.96del (p.Asp32GlufsTer3)
4g.186197018T>ACA358947410CYP4V2c.492T>A (p.Asp164Glu)
n.931T>A
c.96T>A (p.Asp32Glu)
4g.186197018T>CCA442638905CYP4V2c.492T>C (p.Asp164=)
n.931T>C
c.96T>C (p.Asp32=)
4g.186197018T>GCA358947411CYP4V2c.492T>G (p.Asp164Glu)
n.931T>G
c.96T>G (p.Asp32Glu)
4g.186197018_186197021dupCA917387157CYP4V2c.492_495dup (p.Met166TyrfsTer4)
n.931_934dup
c.96_99dup (p.Met34TyrfsTer4)
dbSNP gnomAD v4
4g.186197019A>CCA358947412CYP4V2c.493A>C (p.Ile165Leu)
n.932A>C
c.97A>C (p.Ile33Leu)
4g.186197019A>GCA358947413CYP4V2c.493A>G (p.Ile165Val)
n.932A>G
c.97A>G (p.Ile33Val)
4g.186197019A>TCA358947414CYP4V2c.493A>T (p.Ile165Phe)
n.932A>T
c.97A>T (p.Ile33Phe)
4g.186197020T>ACA358947416CYP4V2c.494T>A (p.Ile165Asn)
n.933T>A
c.98T>A (p.Ile33Asn)
gnomAD v4
4g.186197020T>CCA3162571CYP4V2c.494T>C (p.Ile165Thr)
n.933T>C
c.98T>C (p.Ile33Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186197020T>GCA358947415CYP4V2c.494T>G (p.Ile165Ser)
n.933T>G
c.98T>G (p.Ile33Ser)
4g.186197020T=CA1519918475CYP4V2c.494T= (p.Ile165=)
n.933T=
c.98T= (p.Ile33=)
4g.186197021C>ACA442638907CYP4V2c.495C>A (p.Ile165=)
n.934C>A
c.99C>A (p.Ile33=)
4g.186197021C=CA1519918483CYP4V2c.495C= (p.Ile165=)
n.934C=
c.99C= (p.Ile33=)
4g.186197021C>GCA358947417CYP4V2c.495C>G (p.Ile165Met)
n.934C>G
c.99C>G (p.Ile33Met)
4g.186197021C>TCA442638908CYP4V2c.495C>T (p.Ile165=)
n.934C>T
c.99C>T (p.Ile33=)
dbSNP gnomAD v3 gnomAD v4
4g.186197021_186197025delinsCATGACA1519918482CYP4V2c.495_499delinsCATGA (p.Ile165=)
n.934_938delinsCATGA
c.99_103delinsCATGA (p.Ile33=)
4g.186197022A=CA1519918487CYP4V2c.496A= (p.Met166=)
n.935A=
c.100A= (p.Met34=)
4g.186197022A>CCA358947418CYP4V2c.496A>C (p.Met166Leu)
n.935A>C
c.100A>C (p.Met34Leu)
gnomAD v4
4g.186197022A>GCA358947419CYP4V2c.496A>G (p.Met166Val)
n.935A>G
c.100A>G (p.Met34Val)
dbSNP gnomAD v4
4g.186197022A>TCA358947420CYP4V2c.496A>T (p.Met166Leu)
n.935A>T
c.100A>T (p.Met34Leu)
4g.186197027_186197030delCA3162572CYP4V2c.501_504del (p.Glu168LysfsTer29)
n.940_943del
c.105_108del (p.Glu36LysfsTer29)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186197023T>ACA358947421CYP4V2c.497T>A (p.Met166Lys)
n.936T>A
c.101T>A (p.Met34Lys)
gnomAD v4
4g.186197023T>CCA358947422CYP4V2c.497T>C (p.Met166Thr)
n.936T>C
c.101T>C (p.Met34Thr)
4g.186197023T>GCA358947423CYP4V2c.497T>G (p.Met166Arg)
n.936T>G
c.101T>G (p.Met34Arg)
4g.186197024G>ACA358947424CYP4V2c.498G>A (p.Met166Ile)
n.937G>A
c.102G>A (p.Met34Ile)
gnomAD v4
4g.186197024G>CCA358947425CYP4V2c.498G>C (p.Met166Ile)
n.937G>C
c.102G>C (p.Met34Ile)
4g.186197024G>TCA358947426CYP4V2c.498G>T (p.Met166Ile)
n.937G>T
c.102G>T (p.Met34Ile)
4g.186197025A>CCA358947427CYP4V2c.499A>C (p.Asn167His)
n.938A>C
c.103A>C (p.Asn35His)
4g.186197025A>GCA358947428CYP4V2c.499A>G (p.Asn167Asp)
n.938A>G
c.103A>G (p.Asn35Asp)
4g.186197025A>TCA358947429CYP4V2c.499A>T (p.Asn167Tyr)
n.938A>T
c.103A>T (p.Asn35Tyr)
4g.186197026A>CCA358947432CYP4V2c.500A>C (p.Asn167Thr)
n.939A>C
c.104A>C (p.Asn35Thr)
4g.186197026A>GCA358947430CYP4V2c.500A>G (p.Asn167Ser)
n.939A>G
c.104A>G (p.Asn35Ser)
4g.186197026A>TCA358947431CYP4V2c.500A>T (p.Asn167Ile)
n.939A>T
c.104A>T (p.Asn35Ile)
COSMIC
4g.186197027T>ACA358947433CYP4V2c.501T>A (p.Asn167Lys)
n.940T>A
c.105T>A (p.Asn35Lys)
4g.186197027T>CCA442638915CYP4V2c.501T>C (p.Asn167=)
n.940T>C
c.105T>C (p.Asn35=)
gnomAD v4
4g.186197027T>GCA358947434CYP4V2c.501T>G (p.Asn167Lys)
n.940T>G
c.105T>G (p.Asn35Lys)
4g.186197028G>ACA358947435CYP4V2c.502G>A (p.Glu168Lys)
n.941G>A
c.106G>A (p.Glu36Lys)
gnomAD v4
4g.186197028G>CCA358947436CYP4V2c.502G>C (p.Glu168Gln)
n.941G>C
c.106G>C (p.Glu36Gln)
4g.186197028G>TCA358947437CYP4V2c.502G>T (p.Glu168Ter)
n.941G>T
c.106G>T (p.Glu36Ter)
4g.186197029A>CCA358947438CYP4V2c.503A>C (p.Glu168Ala)
n.942A>C
c.107A>C (p.Glu36Ala)
4g.186197029A>GCA358947440CYP4V2c.503A>G (p.Glu168Gly)
n.942A>G
c.107A>G (p.Glu36Gly)
gnomAD v4
4g.186197029A>TCA358947439CYP4V2c.503A>T (p.Glu168Val)
n.942A>T
c.107A>T (p.Glu36Val)
4g.186197030A=CA1519918490CYP4V2c.504A= (p.Glu168=)
n.943A=
c.108A= (p.Glu36=)
4g.186197030A>CCA358947441CYP4V2c.504A>C (p.Glu168Asp)
n.943A>C
c.108A>C (p.Glu36Asp)
4g.186197030A>GCA3162573CYP4V2c.504A>G (p.Glu168=)
n.943A>G
c.108A>G (p.Glu36=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.186197030A>TCA358947442CYP4V2c.504A>T (p.Glu168Asp)
n.943A>T
c.108A>T (p.Glu36Asp)
4g.186197031_186197032delCA2764867715CYP4V2c.505_506del (p.Gln169SerfsTer6)
n.944_945del
c.109_110del (p.Gln37SerfsTer6)
4g.186197031C>ACA358947443CYP4V2c.505C>A (p.Gln169Lys)
n.944C>A
c.109C>A (p.Gln37Lys)
4g.186197031C>GCA358947444CYP4V2c.505C>G (p.Gln169Glu)
n.944C>G
c.109C>G (p.Gln37Glu)
4g.186197031C>TCA358947445CYP4V2c.505C>T (p.Gln169Ter)
n.944C>T
c.109C>T (p.Gln37Ter)
4g.186197032A>CCA358947446CYP4V2c.506A>C (p.Gln169Pro)
n.945A>C
c.110A>C (p.Gln37Pro)
4g.186197032A>GCA358947447CYP4V2c.506A>G (p.Gln169Arg)
n.945A>G
c.110A>G (p.Gln37Arg)
4g.186197032A>TCA358947448CYP4V2c.506A>T (p.Gln169Leu)
n.945A>T
c.110A>T (p.Gln37Leu)
4g.186197033A>CCA358947449CYP4V2c.507A>C (p.Gln169His)
n.946A>C
c.111A>C (p.Gln37His)
4g.186197033A>GCA442638922CYP4V2c.507A>G (p.Gln169=)
n.946A>G
c.111A>G (p.Gln37=)
4g.186197033A>TCA358947450CYP4V2c.507A>T (p.Gln169His)
n.946A>T
c.111A>T (p.Gln37His)
4g.186197034G>ACA358947451CYP4V2c.508G>A (p.Ala170Thr)
n.947G>A
c.112G>A (p.Ala38Thr)
4g.186197034G>CCA358947453CYP4V2c.508G>C (p.Ala170Pro)
n.947G>C
c.112G>C (p.Ala38Pro)
4g.186197034G>TCA358947452CYP4V2c.508G>T (p.Ala170Ser)
n.947G>T
c.112G>T (p.Ala38Ser)
4g.186197035C>ACA358947454CYP4V2c.509C>A (p.Ala170Glu)
n.948C>A
c.113C>A (p.Ala38Glu)
4g.186197035C=CA1519918496CYP4V2c.509C= (p.Ala170=)
n.948C=
c.113C= (p.Ala38=)
4g.186197035C>GCA358947455CYP4V2c.509C>G (p.Ala170Gly)
n.948C>G
c.113C>G (p.Ala38Gly)
4g.186197035C>TCA3162575CYP4V2c.509C>T (p.Ala170Val)
n.948C>T
c.113C>T (p.Ala38Val)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186197035_186197036delinsCACA1519918494CYP4V2c.509_510delinsCA (p.Ala170=)
n.948_949delinsCA
c.113_114delinsCA (p.Ala38=)
4g.186197036A>CCA442638925CYP4V2c.510A>C (p.Ala170=)
n.949A>C
c.114A>C (p.Ala38=)
4g.186197036A>GCA442638926CYP4V2c.510A>G (p.Ala170=)
n.949A>G
c.114A>G (p.Ala38=)
4g.186197036A>TCA442638928CYP4V2c.510A>T (p.Ala170=)
n.949A>T
c.114A>T (p.Ala38=)
4g.186197038delCA3162574CYP4V2c.512del (p.Asn171IlefsTer27)
n.951del
c.116del (p.Asn39IlefsTer27)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186197037A=CA1519918502CYP4V2c.511A= (p.Asn171=)
n.950A=
c.115A= (p.Asn39=)
4g.186197037A>CCA358947456CYP4V2c.511A>C (p.Asn171His)
n.950A>C
c.115A>C (p.Asn39His)
4g.186197037A>GCA358947457CYP4V2c.511A>G (p.Asn171Asp)
n.950A>G
c.115A>G (p.Asn39Asp)
dbSNP gnomAD v2 gnomAD v4
4g.186197037A>TCA358947458CYP4V2c.511A>T (p.Asn171Tyr)
n.950A>T
c.115A>T (p.Asn39Tyr)
4g.186197037_186197038insGGGTGACGGGCTCTTCCA2672896895CYP4V2c.511_512insGGGTGACGGGCTCTTC (p.Asn171ArgfsTer10)
n.950_951insGGGTGACGGGCTCTTC
c.115_116insGGGTGACGGGCTCTTC (p.Asn39ArgfsTer10)
gnomAD v4
4g.186197037_186197038insGGGTGACGGGCTCTTCAGCTCTTCTATGACTTGGTGCCA2672896896CYP4V2c.511_512insGGGTGACGGGCTCTTCAGCTCTTCTATGACTTGGTGC (p.Asn171ArgfsTer10)
n.950_951insGGGTGACGGGCTCTTCAGCTCTTCTATGACTTGGTGC
c.115_116insGGGTGACGGGCTCTTCAGCTCTTCTATGACTTGGTGC (p.Asn39ArgfsTer10)
gnomAD v4
4g.186197037_186197038insGGGTGACGGGCTCTTCAGCTCTTCTATGACTTGGTGCAAGATCCGAGCA2672896898CYP4V2c.511_512insGGGTGACGGGCTCTTCAGCTCTTCTATGACTTGGTGCAAGATCCGAG (p.Asn171ArgfsTer10)
n.950_951insGGGTGACGGGCTCTTCAGCTCTTCTATGACTTGGTGCAAGATCCGAG
c.115_116insGGGTGACGGGCTCTTCAGCTCTTCTATGACTTGGTGCAAGATCCGAG (p.Asn39ArgfsTer10)
gnomAD v4
4g.186197038A>CCA358947459CYP4V2c.512A>C (p.Asn171Thr)
n.951A>C
c.116A>C (p.Asn39Thr)
4g.186197038A>GCA358947460CYP4V2c.512A>G (p.Asn171Ser)
n.951A>G
c.116A>G (p.Asn39Ser)
4g.186197038A>TCA358947461CYP4V2c.512A>T (p.Asn171Ile)
n.951A>T
c.116A>T (p.Asn39Ile)
4g.186197039T>ACA358947462CYP4V2c.513T>A (p.Asn171Lys)
n.952T>A
c.117T>A (p.Asn39Lys)
4g.186197039T>CCA442638931CYP4V2c.513T>C (p.Asn171=)
n.952T>C
c.117T>C (p.Asn39=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186197039T>GCA358947463CYP4V2c.513T>G (p.Asn171Lys)
n.952T>G
c.117T>G (p.Asn39Lys)
4g.186197039T=CA1519918512CYP4V2c.513T= (p.Asn171=)
n.952T=
c.117T= (p.Asn39=)
4g.186197040A=CA1519918516CYP4V2c.514A= (p.Ile172=)
n.953A=
c.118A= (p.Ile40=)
4g.186197040A>CCA358947466CYP4V2c.514A>C (p.Ile172Leu)
n.953A>C
c.118A>C (p.Ile40Leu)
dbSNP gnomAD v2 gnomAD v4
4g.186197040A>GCA358947464CYP4V2c.514A>G (p.Ile172Val)
n.953A>G
c.118A>G (p.Ile40Val)
4g.186197040A>TCA358947465CYP4V2c.514A>T (p.Ile172Leu)
n.953A>T
c.118A>T (p.Ile40Leu)
4g.186197041T>ACA358947467CYP4V2c.515T>A (p.Ile172Lys)
n.954T>A
c.119T>A (p.Ile40Lys)
4g.186197041T>CCA358947468CYP4V2c.515T>C (p.Ile172Thr)
n.954T>C
c.119T>C (p.Ile40Thr)
dbSNP gnomAD v4
4g.186197041T>GCA358947469CYP4V2c.515T>G (p.Ile172Arg)
n.954T>G
c.119T>G (p.Ile40Arg)
4g.186197042A>CCA442638939CYP4V2c.516A>C (p.Ile172=)
n.955A>C
c.120A>C (p.Ile40=)
4g.186197042A>GCA358947470CYP4V2c.516A>G (p.Ile172Met)
n.955A>G
c.120A>G (p.Ile40Met)
4g.186197042A>TCA442638937CYP4V2c.516A>T (p.Ile172=)
n.955A>T
c.120A>T (p.Ile40=)
4g.186197043T>ACA358947471CYP4V2c.517T>A (p.Leu173Met)
n.956T>A
c.121T>A (p.Leu41Met)
4g.186197043T>CCA442638940CYP4V2c.517T>C (p.Leu173=)
n.956T>C
c.121T>C (p.Leu41=)
4g.186197043T>GCA358947472CYP4V2c.517T>G (p.Leu173Val)
n.956T>G
c.121T>G (p.Leu41Val)
4g.186197044T>ACA358947473CYP4V2c.518T>A (p.Leu173Ter)
n.957T>A
c.122T>A (p.Leu41Ter)
4g.186197044T>CCA358947474CYP4V2c.518T>C (p.Leu173Ser)
n.957T>C
c.122T>C (p.Leu41Ser)
4g.186197044T>GCA343733CYP4V2c.518T>G (p.Leu173Trp)
n.957T>G
c.122T>G (p.Leu41Trp)
ClinVar dbSNP gnomAD v4
4g.186197044T=CA1519918520CYP4V2c.518T= (p.Leu173=)
n.957T=
c.122T= (p.Leu41=)
4g.186197045G>ACA442638941CYP4V2c.519G>A (p.Leu173=)
n.958G>A
c.123G>A (p.Leu41=)
4g.186197045G>CCA358947475CYP4V2c.519G>C (p.Leu173Phe)
n.958G>C
c.123G>C (p.Leu41Phe)
4g.186197045G>TCA358947476CYP4V2c.519G>T (p.Leu173Phe)
n.958G>T
c.123G>T (p.Leu41Phe)
4g.186197046G>ACA112124469CYP4V2c.520G>A (p.Val174Ile)
n.959G>A
c.124G>A (p.Val42Ile)
dbSNP gnomAD v3 gnomAD v4
4g.186197046G>CCA358947478CYP4V2c.520G>C (p.Val174Leu)
n.959G>C
c.124G>C (p.Val42Leu)
4g.186197046G=CA1519918527CYP4V2c.520G= (p.Val174=)
n.959G=
c.124G= (p.Val42=)
4g.186197046G>TCA358947477CYP4V2c.520G>T (p.Val174Phe)
n.959G>T
c.124G>T (p.Val42Phe)
4g.186197047T>ACA358947479CYP4V2c.521T>A (p.Val174Asp)
n.960T>A
c.125T>A (p.Val42Asp)
4g.186197047T>CCA3162576CYP4V2c.521T>C (p.Val174Ala)
n.960T>C
c.125T>C (p.Val42Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186197047T>GCA358947480CYP4V2c.521T>G (p.Val174Gly)
n.960T>G
c.125T>G (p.Val42Gly)
4g.186197047T=CA1519918534CYP4V2c.521T= (p.Val174=)
n.960T=
c.125T= (p.Val42=)

Number of alleles fetched