Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
4g.186197048T>ACA442638945CYP4V2c.522T>A (p.Val174=)
n.961T>A
c.126T>A (p.Val42=)
4g.186197048T>CCA442638947CYP4V2c.522T>C (p.Val174=)
n.961T>C
c.126T>C (p.Val42=)
4g.186197048T>GCA442638948CYP4V2c.522T>G (p.Val174=)
n.961T>G
c.126T>G (p.Val42=)
4g.186197049A>CCA358947481CYP4V2c.523A>C (p.Lys175Gln)
n.962A>C
c.127A>C (p.Lys43Gln)
4g.186197049A>GCA358947483CYP4V2c.523A>G (p.Lys175Glu)
n.962A>G
c.127A>G (p.Lys43Glu)
4g.186197049A>TCA358947482CYP4V2c.523A>T (p.Lys175Ter)
n.962A>T
c.127A>T (p.Lys43Ter)
4g.186197050A>CCA358947484CYP4V2c.524A>C (p.Lys175Thr)
n.963A>C
c.128A>C (p.Lys43Thr)
4g.186197050A>GCA358947485CYP4V2c.524A>G (p.Lys175Arg)
n.963A>G
c.128A>G (p.Lys43Arg)
4g.186197050A>TCA358947486CYP4V2c.524A>T (p.Lys175Met)
n.963A>T
c.128A>T (p.Lys43Met)
4g.186197051G>ACA442638952CYP4V2c.525G>A (p.Lys175=)
n.964G>A
c.129G>A (p.Lys43=)
4g.186197051G>CCA358947487CYP4V2c.525G>C (p.Lys175Asn)
n.964G>C
c.129G>C (p.Lys43Asn)
4g.186197051G>TCA358947488CYP4V2c.525G>T (p.Lys175Asn)
n.964G>T
c.129G>T (p.Lys43Asn)
4g.186197052A>CCA358947489CYP4V2c.526A>C (p.Lys176Gln)
n.965A>C
c.130A>C (p.Lys44Gln)
4g.186197052A>GCA358947490CYP4V2c.526A>G (p.Lys176Glu)
n.965A>G
c.130A>G (p.Lys44Glu)
gnomAD v4
4g.186197052A>TCA358947491CYP4V2c.526A>T (p.Lys176Ter)
n.965A>T
c.130A>T (p.Lys44Ter)
gnomAD v4
4g.186197053A=CA1519918538CYP4V2c.527A= (p.Lys176=)
n.966A=
c.131A= (p.Lys44=)
4g.186197053A>CCA358947492CYP4V2c.527A>C (p.Lys176Thr)
n.966A>C
c.131A>C (p.Lys44Thr)
4g.186197053A>GCA358947493CYP4V2c.527A>G (p.Lys176Arg)
n.966A>G
c.131A>G (p.Lys44Arg)
dbSNP
4g.186197053A>TCA358947494CYP4V2c.527A>T (p.Lys176Ile)
n.966A>T
c.131A>T (p.Lys44Ile)
4g.186197054A>CCA358947495CYP4V2c.528A>C (p.Lys176Asn)
n.967A>C
c.132A>C (p.Lys44Asn)
4g.186197054A>GCA442638955CYP4V2c.528A>G (p.Lys176=)
n.967A>G
c.132A>G (p.Lys44=)
4g.186197054A>TCA358947496CYP4V2c.528A>T (p.Lys176Asn)
n.967A>T
c.132A>T (p.Lys44Asn)
4g.186197055C>ACA358947497CYP4V2c.529C>A (p.Leu177Ile)
n.968C>A
c.133C>A (p.Leu45Ile)
4g.186197055C>GCA358947499CYP4V2c.529C>G (p.Leu177Val)
n.968C>G
c.133C>G (p.Leu45Val)
4g.186197055C>TCA358947498CYP4V2c.529C>T (p.Leu177Phe)
n.968C>T
c.133C>T (p.Leu45Phe)
4g.186197056T>ACA358947500CYP4V2c.530T>A (p.Leu177His)
n.969T>A
c.134T>A (p.Leu45His)
gnomAD v4
4g.186197056T>CCA358947501CYP4V2c.530T>C (p.Leu177Pro)
n.969T>C
c.134T>C (p.Leu45Pro)
4g.186197056T>GCA358947502CYP4V2c.530T>G (p.Leu177Arg)
n.969T>G
c.134T>G (p.Leu45Arg)
4g.186197057T>ACA442638961CYP4V2c.531T>A (p.Leu177=)
n.970T>A
c.135T>A (p.Leu45=)
4g.186197057T>CCA442638963CYP4V2c.531T>C (p.Leu177=)
n.970T>C
c.135T>C (p.Leu45=)
4g.186197057T>GCA442638965CYP4V2c.531T>G (p.Leu177=)
n.970T>G
c.135T>G (p.Leu45=)
4g.186197058G>ACA358947503CYP4V2c.532G>A (p.Glu178Lys)
n.971G>A
c.136G>A (p.Glu46Lys)
4g.186197058G>CCA358947504CYP4V2c.532G>C (p.Glu178Gln)
n.971G>C
c.136G>C (p.Glu46Gln)
4g.186197058G>TCA358947505CYP4V2c.532G>T (p.Glu178Ter)
n.971G>T
c.136G>T (p.Glu46Ter)
4g.186197059A=CA1519918541CYP4V2c.533A= (p.Glu178=)
n.972A=
c.137A= (p.Glu46=)
4g.186197059A>CCA358947506CYP4V2c.533A>C (p.Glu178Ala)
n.972A>C
c.137A>C (p.Glu46Ala)
4g.186197059A>GCA358947507CYP4V2c.533A>G (p.Glu178Gly)
n.972A>G
c.137A>G (p.Glu46Gly)
4g.186197059A>TCA358947508CYP4V2c.533A>T (p.Glu178Val)
n.972A>T
c.137A>T (p.Glu46Val)
dbSNP gnomAD v3 gnomAD v4
4g.186197060A=CA1519918546CYP4V2c.534A= (p.Glu178=)
n.973A=
c.138A= (p.Glu46=)
4g.186197060A>CCA358947510CYP4V2c.534A>C (p.Glu178Asp)
n.973A>C
c.138A>C (p.Glu46Asp)
gnomAD v4
4g.186197060A>GCA3162577CYP4V2c.534A>G (p.Glu178=)
n.973A>G
c.138A>G (p.Glu46=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186197060A>TCA358947509CYP4V2c.534A>T (p.Glu178Asp)
n.973A>T
c.138A>T (p.Glu46Asp)
4g.186197061A>CCA358947511CYP4V2c.535A>C (p.Lys179Gln)
n.974A>C
c.139A>C (p.Lys47Gln)
4g.186197061A>GCA358947512CYP4V2c.535A>G (p.Lys179Glu)
n.974A>G
c.139A>G (p.Lys47Glu)
4g.186197061A>TCA358947513CYP4V2c.535A>T (p.Lys179Ter)
n.974A>T
c.139A>T (p.Lys47Ter)
4g.186197062A>CCA358947514CYP4V2c.536A>C (p.Lys179Thr)
n.975A>C
c.140A>C (p.Lys47Thr)
4g.186197062A>GCA358947515CYP4V2c.536A>G (p.Lys179Arg)
n.975A>G
c.140A>G (p.Lys47Arg)
4g.186197062A>TCA358947516CYP4V2c.536A>T (p.Lys179Ile)
n.975A>T
c.140A>T (p.Lys47Ile)
4g.186197063A>CCA358947517CYP4V2c.537A>C (p.Lys179Asn)
n.976A>C
c.141A>C (p.Lys47Asn)
4g.186197063A>GCA442638968CYP4V2c.537A>G (p.Lys179=)
n.976A>G
c.141A>G (p.Lys47=)
4g.186197063A>TCA358947518CYP4V2c.537A>T (p.Lys179Asn)
n.976A>T
c.141A>T (p.Lys47Asn)
4g.186197064C>ACA358947519CYP4V2c.538C>A (p.His180Asn)
n.977C>A
c.142C>A (p.His48Asn)
4g.186197064C=CA1519918550CYP4V2c.538C= (p.His180=)
n.977C=
c.142C= (p.His48=)
4g.186197064C>GCA358947520CYP4V2c.538C>G (p.His180Asp)
n.977C>G
c.142C>G (p.His48Asp)
4g.186197064C>TCA358947521CYP4V2c.538C>T (p.His180Tyr)
n.977C>T
c.142C>T (p.His48Tyr)
ClinVar dbSNP gnomAD v4
4g.186197065A=CA1519918552CYP4V2c.539A= (p.His180=)
n.978A=
c.143A= (p.His48=)
4g.186197065A>CCA358947522CYP4V2c.539A>C (p.His180Pro)
n.978A>C
c.143A>C (p.His48Pro)
4g.186197065A>GCA358947523CYP4V2c.539A>G (p.His180Arg)
n.978A>G
c.143A>G (p.His48Arg)
dbSNP gnomAD v3 gnomAD v4
4g.186197065A>TCA358947524CYP4V2c.539A>T (p.His180Leu)
n.978A>T
c.143A>T (p.His48Leu)
4g.186197066C>ACA358947525CYP4V2c.540C>A (p.His180Gln)
n.979C>A
c.144C>A (p.His48Gln)
4g.186197066C=CA1519918555CYP4V2c.540C= (p.His180=)
n.979C=
c.144C= (p.His48=)
4g.186197066C>GCA358947526CYP4V2c.540C>G (p.His180Gln)
n.979C>G
c.144C>G (p.His48Gln)
ClinVar
4g.186197066C>TCA442638973CYP4V2c.540C>T (p.His180=)
n.979C>T
c.144C>T (p.His48=)
dbSNP gnomAD v3 gnomAD v4
4g.186197067A=CA1519918559CYP4V2c.541A= (p.Ile181=)
n.980A=
c.145A= (p.Ile49=)
4g.186197067A>CCA358947527CYP4V2c.541A>C (p.Ile181Leu)
n.980A>C
c.145A>C (p.Ile49Leu)
gnomAD v4
4g.186197067A>GCA3162578CYP4V2c.541A>G (p.Ile181Val)
n.980A>G
c.145A>G (p.Ile49Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186197067A>TCA358947528CYP4V2c.541A>T (p.Ile181Phe)
n.980A>T
c.145A>T (p.Ile49Phe)
4g.186197068T>ACA3162580CYP4V2c.542T>A (p.Ile181Asn)
n.981T>A
c.146T>A (p.Ile49Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186197068T>CCA358947529CYP4V2c.542T>C (p.Ile181Thr)
n.981T>C
c.146T>C (p.Ile49Thr)
4g.186197068T>GCA358947530CYP4V2c.542T>G (p.Ile181Ser)
n.981T>G
c.146T>G (p.Ile49Ser)
4g.186197068T=CA1519918562CYP4V2c.542T= (p.Ile181=)
n.981T=
c.146T= (p.Ile49=)
4g.186197069dupCA3162579CYP4V2c.543dup (p.Asn182Ter)
n.982dup
c.147dup (p.Asn50Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186197069T>ACA442638974CYP4V2c.543T>A (p.Ile181=)
n.982T>A
c.147T>A (p.Ile49=)
4g.186197069T>CCA442638977CYP4V2c.543T>C (p.Ile181=)
n.982T>C
c.147T>C (p.Ile49=)
4g.186197069T>GCA358947531CYP4V2c.543T>G (p.Ile181Met)
n.982T>G
c.147T>G (p.Ile49Met)
gnomAD v4
4g.186197070A=CA1519918564CYP4V2c.544A= (p.Asn182=)
n.983A=
c.148A= (p.Asn50=)
4g.186197070A>CCA358947532CYP4V2c.544A>C (p.Asn182His)
n.983A>C
c.148A>C (p.Asn50His)
4g.186197070A>GCA358947533CYP4V2c.544A>G (p.Asn182Asp)
n.983A>G
c.148A>G (p.Asn50Asp)
dbSNP gnomAD v2 gnomAD v4
4g.186197070A>TCA358947534CYP4V2c.544A>T (p.Asn182Tyr)
n.983A>T
c.148A>T (p.Asn50Tyr)
4g.186197071delCA2499217184CYP4V2c.545del (p.Asn182ThrfsTer16)
n.984del
c.149del (p.Asn50ThrfsTer16)
ClinVar dbSNP
4g.186197071A>CCA358947537CYP4V2c.545A>C (p.Asn182Thr)
n.984A>C
c.149A>C (p.Asn50Thr)
4g.186197071A>GCA358947536CYP4V2c.545A>G (p.Asn182Ser)
n.984A>G
c.149A>G (p.Asn50Ser)
4g.186197071A>TCA358947535CYP4V2c.545A>T (p.Asn182Ile)
n.984A>T
c.149A>T (p.Asn50Ile)
4g.186197072C>ACA358947538CYP4V2c.546C>A (p.Asn182Lys)
n.985C>A
c.150C>A (p.Asn50Lys)
COSMIC
4g.186197072C>GCA358947539CYP4V2c.546C>G (p.Asn182Lys)
n.985C>G
c.150C>G (p.Asn50Lys)
4g.186197072C>TCA442638981CYP4V2c.546C>T (p.Asn182=)
n.985C>T
c.150C>T (p.Asn50=)
4g.186197073C>ACA358947540CYP4V2c.547C>A (p.Gln183Lys)
n.986C>A
c.151C>A (p.Gln51Lys)
4g.186197073C>GCA358947541CYP4V2c.547C>G (p.Gln183Glu)
n.986C>G
c.151C>G (p.Gln51Glu)
4g.186197073C>TCA358947542CYP4V2c.547C>T (p.Gln183Ter)
n.986C>T
c.151C>T (p.Gln51Ter)
4g.186197074A>CCA358947543CYP4V2c.548A>C (p.Gln183Pro)
n.987A>C
c.152A>C (p.Gln51Pro)
gnomAD v4
4g.186197074A>GCA358947544CYP4V2c.548A>G (p.Gln183Arg)
n.987A>G
c.152A>G (p.Gln51Arg)
4g.186197074A>TCA358947545CYP4V2c.548A>T (p.Gln183Leu)
n.987A>T
c.152A>T (p.Gln51Leu)
4g.186197075A=CA1519918568CYP4V2c.549A= (p.Gln183=)
n.988A=
c.153A= (p.Gln51=)
4g.186197075A>CCA3162581CYP4V2c.549A>C (p.Gln183His)
n.988A>C
c.153A>C (p.Gln51His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186197075A>GCA442638985CYP4V2c.549A>G (p.Gln183=)
n.988A>G
c.153A>G (p.Gln51=)
dbSNP gnomAD v2 gnomAD v4
4g.186197075A>TCA358947546CYP4V2c.549A>T (p.Gln183His)
n.988A>T
c.153A>T (p.Gln51His)
4g.186197076G>ACA358947547CYP4V2c.550G>A (p.Glu184Lys)
n.989G>A
c.154G>A (p.Glu52Lys)
4g.186197076G>CCA358947548CYP4V2c.550G>C (p.Glu184Gln)
n.989G>C
c.154G>C (p.Glu52Gln)
gnomAD v4
4g.186197076G>TCA358947549CYP4V2c.550G>T (p.Glu184Ter)
n.989G>T
c.154G>T (p.Glu52Ter)
ClinVar dbSNP
4g.186197077A=CA1519918574CYP4V2c.551A= (p.Glu184=)
n.990A=
c.155A= (p.Glu52=)
4g.186197077A>CCA358947551CYP4V2c.551A>C (p.Glu184Ala)
n.990A>C
c.155A>C (p.Glu52Ala)
4g.186197077A>GCA112124508CYP4V2c.551A>G (p.Glu184Gly)
n.990A>G
c.155A>G (p.Glu52Gly)
dbSNP gnomAD v4
4g.186197077A>TCA358947550CYP4V2c.551A>T (p.Glu184Val)
n.990A>T
c.155A>T (p.Glu52Val)
4g.186197078A>CCA358947552CYP4V2c.552A>C (p.Glu184Asp)
n.991A>C
c.156A>C (p.Glu52Asp)
4g.186197078A>GCA442638986CYP4V2c.552A>G (p.Glu184=)
n.991A>G
c.156A>G (p.Glu52=)
gnomAD v4
4g.186197078A>TCA358947553CYP4V2c.552A>T (p.Glu184Asp)
n.991A>T
c.156A>T (p.Glu52Asp)
4g.186197079G>ACA358947554CYP4V2c.553G>A (p.Ala185Thr)
n.992G>A
c.157G>A (p.Ala53Thr)
gnomAD v4
4g.186197079G>CCA3162582CYP4V2c.553G>C (p.Ala185Pro)
n.992G>C
c.157G>C (p.Ala53Pro)
dbSNP ExAC gnomAD v4
4g.186197079G=CA1519918579CYP4V2c.553G= (p.Ala185=)
n.992G=
c.157G= (p.Ala53=)
4g.186197079G>TCA358947555CYP4V2c.553G>T (p.Ala185Ser)
n.992G>T
c.157G>T (p.Ala53Ser)
4g.186197080C>ACA3162583CYP4V2c.554C>A (p.Ala185Glu)
n.993C>A
c.158C>A (p.Ala53Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.186197080C=CA1519918590CYP4V2c.554C= (p.Ala185=)
n.993C=
c.158C= (p.Ala53=)
4g.186197080C>GCA358947556CYP4V2c.554C>G (p.Ala185Gly)
n.993C>G
c.158C>G (p.Ala53Gly)
dbSNP gnomAD v3 gnomAD v4
4g.186197080C>TCA3162584CYP4V2c.554C>T (p.Ala185Val)
n.993C>T
c.158C>T (p.Ala53Val)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186197081A=CA1519918604CYP4V2c.555A= (p.Ala185=)
n.994A=
c.159A= (p.Ala53=)
4g.186197081A>CCA442638987CYP4V2c.555A>C (p.Ala185=)
n.994A>C
c.159A>C (p.Ala53=)
4g.186197081A>GCA442638988CYP4V2c.555A>G (p.Ala185=)
n.994A>G
c.159A>G (p.Ala53=)
4g.186197081A>TCA3162585CYP4V2c.555A>T (p.Ala185=)
n.994A>T
c.159A>T (p.Ala53=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186197082T>ACA358947557CYP4V2c.556T>A (p.Phe186Ile)
n.995T>A
c.160T>A (p.Phe54Ile)
4g.186197082T>CCA358947558CYP4V2c.556T>C (p.Phe186Leu)
n.995T>C
c.160T>C (p.Phe54Leu)
4g.186197082T>GCA358947559CYP4V2c.556T>G (p.Phe186Val)
n.995T>G
c.160T>G (p.Phe54Val)
4g.186197083T>ACA358947561CYP4V2c.557T>A (p.Phe186Tyr)
n.996T>A
c.161T>A (p.Phe54Tyr)
4g.186197083T>CCA358947562CYP4V2c.557T>C (p.Phe186Ser)
n.996T>C
c.161T>C (p.Phe54Ser)
4g.186197083T>GCA358947560CYP4V2c.557T>G (p.Phe186Cys)
n.996T>G
c.161T>G (p.Phe54Cys)
4g.186197084T>ACA358947563CYP4V2c.558T>A (p.Phe186Leu)
n.997T>A
c.162T>A (p.Phe54Leu)
4g.186197084T>CCA442638994CYP4V2c.558T>C (p.Phe186=)
n.997T>C
c.162T>C (p.Phe54=)
4g.186197084T>GCA358947565CYP4V2c.558T>G (p.Phe186Leu)
n.997T>G
c.162T>G (p.Phe54Leu)
4g.186197084_186197086delCA2672896988CYP4V2c.558_560del (p.Asn187del)
n.997_999del
c.162_164del (p.Asn55del)
gnomAD v4
4g.186197085A=CA1519918609CYP4V2c.559A= (p.Asn187=)
n.998A=
c.163A= (p.Asn55=)
4g.186197085A>CCA358947567CYP4V2c.559A>C (p.Asn187His)
n.998A>C
c.163A>C (p.Asn55His)
dbSNP gnomAD v2 gnomAD v4
4g.186197085A>GCA358947568CYP4V2c.559A>G (p.Asn187Asp)
n.998A>G
c.163A>G (p.Asn55Asp)
4g.186197085A>TCA358947569CYP4V2c.559A>T (p.Asn187Tyr)
n.998A>T
c.163A>T (p.Asn55Tyr)
4g.186197086A>CCA358947570CYP4V2c.560A>C (p.Asn187Thr)
n.999A>C
c.164A>C (p.Asn55Thr)
4g.186197086A>GCA358947571CYP4V2c.560A>G (p.Asn187Ser)
n.999A>G
c.164A>G (p.Asn55Ser)
4g.186197086A>TCA358947572CYP4V2c.560A>T (p.Asn187Ile)
n.999A>T
c.164A>T (p.Asn55Ile)
4g.186197087delCA2672897004CYP4V2c.561del (p.Cys188AlafsTer10)
n.1000del
c.165del (p.Cys56AlafsTer10)
gnomAD v4
4g.186197087C>ACA358947573CYP4V2c.561C>A (p.Asn187Lys)
n.1000C>A
c.165C>A (p.Asn55Lys)
4g.186197087C=CA1519918616CYP4V2c.561C= (p.Asn187=)
n.1000C=
c.165C= (p.Asn55=)
4g.186197087C>GCA3162586CYP4V2c.561C>G (p.Asn187Lys)
n.1000C>G
c.165C>G (p.Asn55Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186197087C>TCA442638997CYP4V2c.561C>T (p.Asn187=)
n.1000C>T
c.165C>T (p.Asn55=)
4g.186197088T>ACA358947574CYP4V2c.562T>A (p.Cys188Ser)
n.1001T>A
c.166T>A (p.Cys56Ser)
4g.186197088T>CCA358947575CYP4V2c.562T>C (p.Cys188Arg)
n.1001T>C
c.166T>C (p.Cys56Arg)
4g.186197088T>GCA358947576CYP4V2c.562T>G (p.Cys188Gly)
n.1001T>G
c.166T>G (p.Cys56Gly)
4g.186197089G>ACA358947579CYP4V2c.563G>A (p.Cys188Tyr)
n.1002G>A
c.167G>A (p.Cys56Tyr)
4g.186197089G>CCA358947578CYP4V2c.563G>C (p.Cys188Ser)
n.1002G>C
c.167G>C (p.Cys56Ser)
4g.186197089G>TCA358947577CYP4V2c.563G>T (p.Cys188Phe)
n.1002G>T
c.167G>T (p.Cys56Phe)

Number of alleles fetched