Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.38076294C>ACA531942515CYP1B1c.-70-4984G>T (n.-70-4984G>T)
c.908C>A (p.Pro303Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076294C=CA1245628837CYP1B1c.-70-4984G= (n.-70-4984G=)
c.908C= (p.Pro303=)
2g.38076294C>GCA45513161CYP1B1c.-70-4984G>C (n.-70-4984G>C)
c.908C>G (p.Pro303Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076294C>TCA531942516CYP1B1c.-70-4984G>A (n.-70-4984G>A)
c.908C>T (p.Pro303Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076295G>ACA2658668303CYP1B1c.-70-4985C>T (n.-70-4985C>T)
c.909G>A (p.Pro303=)
 gnomAD v4
2g.38076295G>TCA2658668304CYP1B1c.-70-4985C>A (n.-70-4985C>A)
c.909G>T (p.Pro303=)
 gnomAD v4
2g.38076296G>ACA2658668306CYP1B1c.-70-4986C>T (n.-70-4986C>T)
c.910G>A (p.Ala304Thr)
 gnomAD v4
2g.38076296G>TCA2658668305CYP1B1c.-70-4986C>A (n.-70-4986C>A)
c.910G>T (p.Ala304Ser)
 gnomAD v4
2g.38076297C>TCA2658668307CYP1B1c.-70-4987G>A (n.-70-4987G>A)
c.911C>T (p.Ala304Val)
 gnomAD v4
2g.38076298C>ACA2658668308CYP1B1c.-70-4988G>T (n.-70-4988G>T)
c.912C>A (p.Ala304=)
 gnomAD v4
2g.38076298C>GCA2658668309CYP1B1c.-70-4988G>C (n.-70-4988G>C)
c.912C>G (p.Ala304=)
 gnomAD v4
2g.38076298C>TCA647039935CYP1B1c.-70-4988G>A (n.-70-4988G>A)
c.912C>T (p.Ala304=)
 COSMIC COSMIC
2g.38076300C>ACA2658668310CYP1B1c.-70-4990G>T (n.-70-4990G>T)
c.914C>A (p.Ser305Ter)
 gnomAD v4
2g.38076300C=CA1245628839CYP1B1c.-70-4990G= (n.-70-4990G=)
c.914C= (p.Ser305=)
2g.38076300C>GCA45513165CYP1B1c.-70-4990G>C (n.-70-4990G>C)
c.914C>G (p.Ser305Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076300C>TCA2658668311CYP1B1c.-70-4990G>A (n.-70-4990G>A)
c.914C>T (p.Ser305Leu)
 gnomAD v4
2g.38076300_38076301delinsCGCA1245628838CYP1B1c.-70-4991_-70-4990delinsCG (n.-70-4991_-70-4990delinsCG)
c.914_915delinsCG (p.Ser305=)
2g.38076301G>ACA2658668312CYP1B1c.-70-4991C>T (n.-70-4991C>T)
c.915G>A (p.Ser305=)
 gnomAD v4
2g.38076301G>CCA1245628840CYP1B1c.-70-4991C>G (n.-70-4991C>G)
c.915G>C (p.Ser305=)
 dbSNP
2g.38076301G=CA1245628841CYP1B1c.-70-4991C= (n.-70-4991C=)
c.915G= (p.Ser305=)
2g.38076301G>TCA2658668313CYP1B1c.-70-4991C>A (n.-70-4991C>A)
c.915G>T (p.Ser305=)
 gnomAD v4
2g.38076302delCA45513171CYP1B1c.-70-4991del (n.-70-4991del)
c.916del (p.Glu306SerfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076302G>TCA2658668314CYP1B1c.-70-4992C>A (n.-70-4992C>A)
c.916G>T (p.Glu306Ter)
 gnomAD v4
2g.38076303A>GCA2658668315CYP1B1c.-70-4993T>C (n.-70-4993T>C)
c.917A>G (p.Glu306Gly)
 gnomAD v4
2g.38076304G>ACA1245628842CYP1B1c.-70-4994C>T (n.-70-4994C>T)
c.918G>A (p.Glu306=)
 dbSNP gnomAD v4
2g.38076304G>CCA1029495321CYP1B1c.-70-4994C>G (n.-70-4994C>G)
c.918G>C (p.Glu306Asp)
 dbSNP
2g.38076304G=CA1245628843CYP1B1c.-70-4994C= (n.-70-4994C=)
c.918G= (p.Glu306=)
2g.38076304G>TCA2658668316CYP1B1c.-70-4994C>A (n.-70-4994C>A)
c.918G>T (p.Glu306Asp)
 gnomAD v4
2g.38076305C=CA1245628844CYP1B1c.-70-4995G= (n.-70-4995G=)
c.919C= (p.Leu307=)
2g.38076305C>TCA1245628845CYP1B1c.-70-4995G>A (n.-70-4995G>A)
c.919C>T (p.Leu307Phe)
 dbSNP
2g.38076307C>TCA2658668317CYP1B1c.-70-4997G>A (n.-70-4997G>A)
c.921C>T (p.Leu307=)
 gnomAD v4
2g.38076308T>CCA2658668318CYP1B1c.-70-4998A>G (n.-70-4998A>G)
c.922T>C (p.Tyr308His)
 gnomAD v4
2g.38076309A=CA1245628846CYP1B1c.-70-4999T= (n.-70-4999T=)
c.923A= (p.Tyr308=)
2g.38076309A>GCA1245628847CYP1B1c.-70-4999T>C (n.-70-4999T>C)
c.923A>G (p.Tyr308Cys)
 dbSNP gnomAD v4
2g.38076310C>ACA2658668319CYP1B1c.-70-5000G>T (n.-70-5000G>T)
c.924C>A (p.Tyr308Ter)
 gnomAD v4
2g.38076310C>TCA2658668320CYP1B1c.-70-5000G>A (n.-70-5000G>A)
c.924C>T (p.Tyr308=)
 gnomAD v4
2g.38076311C>ACA2658668321CYP1B1c.-70-5001G>T (n.-70-5001G>T)
c.925C>A (p.Gln309Lys)
 gnomAD v4
2g.38076311C=CA1245628848CYP1B1c.-70-5001G= (n.-70-5001G=)
c.925C= (p.Gln309=)
2g.38076311C>TCA531942520CYP1B1c.-70-5001G>A (n.-70-5001G>A)
c.925C>T (p.Gln309Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076312A>GCA2658668322CYP1B1c.-70-5002T>C (n.-70-5002T>C)
c.926A>G (p.Gln309Arg)
 gnomAD v4
2g.38076312_38076315dupCA1245628849CYP1B1c.-70-5005_-70-5002dup (n.-70-5005_-70-5002dup)
c.926_929dup (p.Phe312GlyfsTer15)
 dbSNP
2g.38076313G>ACA1245628850CYP1B1c.-70-5003C>T (n.-70-5003C>T)
c.927G>A (p.Gln309=)
 dbSNP gnomAD v4
2g.38076313G=CA1245628851CYP1B1c.-70-5003C= (n.-70-5003C=)
c.927G= (p.Gln309=)
2g.38076313G>TCA45513175CYP1B1c.-70-5003C>A (n.-70-5003C>A)
c.927G>T (p.Gln309His)
 dbSNP gnomAD v4
2g.38076313_38076314insACAACA2749546801CYP1B1c.-70-5004_-70-5003insTTGT (n.-70-5004_-70-5003insTTGT)
c.927_928insACAA (p.Gln310ThrfsTer17)
2g.38076314C>ACA1245628853CYP1B1c.-70-5004G>T (n.-70-5004G>T)
c.928C>A (p.Gln310Lys)
 dbSNP gnomAD v4
2g.38076314C=CA1245628852CYP1B1c.-70-5004G= (n.-70-5004G=)
c.928C= (p.Gln310=)
2g.38076314C>TCA2658668323CYP1B1c.-70-5004G>A (n.-70-5004G>A)
c.928C>T (p.Gln310Ter)
 gnomAD v4
2g.38076316G>TCA2658668324CYP1B1c.-70-5006C>A (n.-70-5006C>A)
c.930G>T (p.Gln310His)
 gnomAD v4
2g.38076317G>ACA2658668325CYP1B1c.-70-5007C>T (n.-70-5007C>T)
c.931G>A (p.Ala311Thr)
 gnomAD v4
2g.38076317G>TCA2658668326CYP1B1c.-70-5007C>A (n.-70-5007C>A)
c.931G>T (p.Ala311Ser)
 gnomAD v4
2g.38076318C>ACA2658668327CYP1B1c.-70-5008G>T (n.-70-5008G>T)
c.932C>A (p.Ala311Asp)
 gnomAD v4
2g.38076319T>CCA2658668328CYP1B1c.-70-5009A>G (n.-70-5009A>G)
c.933T>C (p.Ala311=)
 gnomAD v4
2g.38076319_38076320insAGCA2749546802CYP1B1c.-70-5010_-70-5009insCT (n.-70-5010_-70-5009insCT)
c.933_934insAG (p.Phe312SerfsTer?)
2g.38076320T>CCA2658668329CYP1B1c.-70-5010A>G (n.-70-5010A>G)
c.934T>C (p.Phe312Leu)
 gnomAD v4
2g.38076321T>CCA2658668330CYP1B1c.-70-5011A>G (n.-70-5011A>G)
c.935T>C (p.Phe312Ser)
 gnomAD v4
2g.38076321_38076322delCA2749546803CYP1B1c.-70-5012_-70-5011del (n.-70-5012_-70-5011del)
c.935_936del (p.Phe312TyrfsTer13)
2g.38076322C>ACA2658668331CYP1B1c.-70-5012G>T (n.-70-5012G>T)
c.936C>A (p.Phe312Leu)
 gnomAD v4
2g.38076322C>TCA2658668332CYP1B1c.-70-5012G>A (n.-70-5012G>A)
c.936C>T (p.Phe312=)
 gnomAD v4
2g.38076323A=CA1245628854CYP1B1c.-70-5013T= (n.-70-5013T=)
c.937A= (p.Met313=)
2g.38076323A>GCA2596089398CYP1B1c.-70-5013T>C (n.-70-5013T>C)
c.937A>G (p.Met313Val)
 dbSNP gnomAD v3 gnomAD v4
2g.38076323A>TCA531942523CYP1B1c.-70-5013T>A (n.-70-5013T>A)
c.937A>T (p.Met313Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076324T>CCA2658668333CYP1B1c.-70-5014A>G (n.-70-5014A>G)
c.938T>C (p.Met313Thr)
 gnomAD v4
2g.38076325G>TCA2658668335CYP1B1c.-70-5015C>A (n.-70-5015C>A)
c.939G>T (p.Met313Ile)
 gnomAD v4
2g.38076327delCA2658668334CYP1B1c.-70-5015del (n.-70-5015del)
c.941del (p.Gly314GlufsTer?)
 gnomAD v4
2g.38076326G>ACA2658668336CYP1B1c.-70-5016C>T (n.-70-5016C>T)
c.940G>A (p.Gly314Arg)
 gnomAD v4
2g.38076326G>TCA2658668337CYP1B1c.-70-5016C>A (n.-70-5016C>A)
c.940G>T (p.Gly314Ter)
 gnomAD v4
2g.38076327G>ACA2749546804CYP1B1c.-70-5017C>T (n.-70-5017C>T)
c.941G>A (p.Gly314Glu)
2g.38076327G>CCA2749546805CYP1B1c.-70-5017C>G (n.-70-5017C>G)
c.941G>C (p.Gly314Ala)
2g.38076327G>TCA2658668338CYP1B1c.-70-5017C>A (n.-70-5017C>A)
c.941G>T (p.Gly314Val)
 gnomAD v4
2g.38076328A>GCA2515137537CYP1B1c.-70-5018T>C (n.-70-5018T>C)
c.942A>G (p.Gly314=)
 gnomAD v4
2g.38076329G>ACA1245628856CYP1B1c.-70-5019C>T (n.-70-5019C>T)
c.943G>A (p.Ala315Thr)
 dbSNP gnomAD v4
2g.38076329G=CA1245628855CYP1B1c.-70-5019C= (n.-70-5019C=)
c.943G= (p.Ala315=)
2g.38076329G>TCA2658668339CYP1B1c.-70-5019C>A (n.-70-5019C>A)
c.943G>T (p.Ala315Ser)
 gnomAD v4
2g.38076330C>ACA2658668340CYP1B1c.-70-5020G>T (n.-70-5020G>T)
c.944C>A (p.Ala315Glu)
 gnomAD v4
2g.38076330C=CA1245628857CYP1B1c.-70-5020G= (n.-70-5020G=)
c.944C= (p.Ala315=)
2g.38076330C>TCA1245628858CYP1B1c.-70-5020G>A (n.-70-5020G>A)
c.944C>T (p.Ala315Val)
 dbSNP gnomAD v4
2g.38076331G>ACA2658668341CYP1B1c.-70-5021C>T (n.-70-5021C>T)
c.945G>A (p.Ala315=)
 gnomAD v4
2g.38076331G=CA1245628859CYP1B1c.-70-5021C= (n.-70-5021C=)
c.945G= (p.Ala315=)
2g.38076331G>TCA768427024CYP1B1c.-70-5021C>A (n.-70-5021C>A)
c.945G>T (p.Ala315=)
 dbSNP gnomAD v3 gnomAD v4
2g.38076332G>CCA2749546806CYP1B1c.-70-5022C>G (n.-70-5022C>G)
c.946G>C (p.Glu316Gln)
2g.38076332G>TCA2658668342CYP1B1c.-70-5022C>A (n.-70-5022C>A)
c.946G>T (p.Glu316Ter)
 gnomAD v4
2g.38076333A>GCA2658668344CYP1B1c.-70-5023T>C (n.-70-5023T>C)
c.947A>G (p.Glu316Gly)
 gnomAD v4
2g.38076333A>TCA2658668343CYP1B1c.-70-5023T>A (n.-70-5023T>A)
c.947A>T (p.Glu316Val)
 gnomAD v4
2g.38076334G>ACA768427029CYP1B1c.-70-5024C>T (n.-70-5024C>T)
c.948G>A (p.Glu316=)
 dbSNP gnomAD v3 gnomAD v4
2g.38076334G>CCA1245628861CYP1B1c.-70-5024C>G (n.-70-5024C>G)
c.948G>C (p.Glu316Asp)
 dbSNP
2g.38076334G=CA1245628860CYP1B1c.-70-5024C= (n.-70-5024C=)
c.948G= (p.Glu316=)
2g.38076334G>TCA2658668345CYP1B1c.-70-5024C>A (n.-70-5024C>A)
c.948G>T (p.Glu316Asp)
 gnomAD v4
2g.38076334_38076339delCA2749546807CYP1B1c.-70-5029_-70-5024del (n.-70-5029_-70-5024del)
c.948_953del (p.Glu316_Pro318delinsAsp)
2g.38076335G>ACA2658668346CYP1B1c.-70-5025C>T (n.-70-5025C>T)
c.949G>A (p.Val317Met)
 gnomAD v4
2g.38076335_38076336insACCA2749546809CYP1B1c.-70-5026_-70-5025insGT (n.-70-5026_-70-5025insGT)
c.949_950insAC (p.Val317AspfsTer?)
2g.38076335_38076336insAGAACA2749546808CYP1B1c.-70-5026_-70-5025insTTCT (n.-70-5026_-70-5025insTTCT)
c.949_950insAGAA (p.Val317GlufsTer10)
2g.38076336T>CCA2658668347CYP1B1c.-70-5026A>G (n.-70-5026A>G)
c.950T>C (p.Val317Ala)
 gnomAD v4
2g.38076336T>GCA1245628863CYP1B1c.-70-5026A>C (n.-70-5026A>C)
c.950T>G (p.Val317Gly)
 dbSNP
2g.38076336T=CA1245628862CYP1B1c.-70-5026A= (n.-70-5026A=)
c.950T= (p.Val317=)
2g.38076337G>ACA1029495322CYP1B1c.-70-5027C>T (n.-70-5027C>T)
c.951G>A (p.Val317=)
 dbSNP gnomAD v3 gnomAD v4
2g.38076337G=CA1245628864CYP1B1c.-70-5027C= (n.-70-5027C=)
c.951G= (p.Val317=)
2g.38076337G>TCA2658668348CYP1B1c.-70-5027C>A (n.-70-5027C>A)
c.951G>T (p.Val317=)
 gnomAD v4
2g.38076337_38076338delCA2749546810CYP1B1c.-70-5028_-70-5027del (n.-70-5028_-70-5027del)
c.951_952del (p.Pro318HisfsTer7)
2g.38076338C>ACA45513183CYP1B1c.-70-5028G>T (n.-70-5028G>T)
c.952C>A (p.Pro318Thr)
 dbSNP gnomAD v4
2g.38076338C=CA1245628865CYP1B1c.-70-5028G= (n.-70-5028G=)
c.952C= (p.Pro318=)
2g.38076338C>TCA768427038CYP1B1c.-70-5028G>A (n.-70-5028G>A)
c.952C>T (p.Pro318Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.38076340delCA2658668349CYP1B1c.-70-5028del (n.-70-5028del)
c.954del (p.Thr319ArgfsTer?)
 gnomAD v4
2g.38076339C>ACA1029495324CYP1B1c.-70-5029G>T (n.-70-5029G>T)
c.953C>A (p.Pro318His)
 dbSNP gnomAD v3 gnomAD v4
2g.38076339C=CA1245628866CYP1B1c.-70-5029G= (n.-70-5029G=)
c.953C= (p.Pro318=)
2g.38076339C>TCA2658668350CYP1B1c.-70-5029G>A (n.-70-5029G>A)
c.953C>T (p.Pro318Leu)
 gnomAD v4
2g.38076340C>ACA2658668351CYP1B1c.-70-5030G>T (n.-70-5030G>T)
c.954C>A (p.Pro318=)
 gnomAD v4
2g.38076340C=CA1245628867CYP1B1c.-70-5030G= (n.-70-5030G=)
c.954C= (p.Pro318=)
2g.38076340C>TCA1245628868CYP1B1c.-70-5030G>A (n.-70-5030G>A)
c.954C>T (p.Pro318=)
 dbSNP gnomAD v4
2g.38076341A>GCA2658668352CYP1B1c.-70-5031T>C (n.-70-5031T>C)
c.955A>G (p.Thr319Ala)
 gnomAD v4
2g.38076342C>ACA2548220561CYP1B1c.-70-5032G>T (n.-70-5032G>T)
c.956C>A (p.Thr319Lys)
 gnomAD v4
2g.38076342C=CA1245628869CYP1B1c.-70-5032G= (n.-70-5032G=)
c.956C= (p.Thr319=)
2g.38076342C>TCA768427044CYP1B1c.-70-5032G>A (n.-70-5032G>A)
c.956C>T (p.Thr319Met)
 dbSNP gnomAD v3 gnomAD v4
2g.38076343_38076347delCA2749546811CYP1B1c.-70-5036_-70-5032del (n.-70-5036_-70-5032del)
c.957_961del (p.Phe320IlefsTer4)
2g.38076342_38076343insACACA2749546812CYP1B1c.-70-5033_-70-5032insTGT (n.-70-5033_-70-5032insTGT)
c.956_957insACA (p.Thr319_Phe320insGln)
2g.38076342_38076343insAGACA2749546813CYP1B1c.-70-5033_-70-5032insTCT (n.-70-5033_-70-5032insTCT)
c.956_957insAGA (p.Thr319_Phe320insGlu)
2g.38076343G>ACA45513193CYP1B1c.-70-5033C>T (n.-70-5033C>T)
c.957G>A (p.Thr319=)
 dbSNP gnomAD v3 gnomAD v4
2g.38076343G=CA1245628870CYP1B1c.-70-5033C= (n.-70-5033C=)
c.957G= (p.Thr319=)
2g.38076343G>TCA2658668353CYP1B1c.-70-5033C>A (n.-70-5033C>A)
c.957G>T (p.Thr319=)
 gnomAD v4
2g.38076343_38076346delCA2749546814CYP1B1c.-70-5036_-70-5033del (n.-70-5036_-70-5033del)
c.957_960del (p.Phe320HisfsTer?)
2g.38076344T>ACA2749546815CYP1B1c.-70-5034A>T (n.-70-5034A>T)
c.958T>A (p.Phe320Ile)
2g.38076344T>CCA2658668354CYP1B1c.-70-5034A>G (n.-70-5034A>G)
c.958T>C (p.Phe320Leu)
 gnomAD v4
2g.38076346delCA2749546816CYP1B1c.-70-5034del (n.-70-5034del)
c.960del (p.Pro321HisfsTer?)
2g.38076345T>CCA2658668355CYP1B1c.-70-5035A>G (n.-70-5035A>G)
c.959T>C (p.Phe320Ser)
 gnomAD v4
2g.38076346T>ACA2749546817CYP1B1c.-70-5036A>T (n.-70-5036A>T)
c.960T>A (p.Phe320Leu)
2g.38076346T>CCA2658668356CYP1B1c.-70-5036A>G (n.-70-5036A>G)
c.960T>C (p.Phe320=)
 gnomAD v4
2g.38076347C>ACA2658668357CYP1B1c.-70-5037G>T (n.-70-5037G>T)
c.961C>A (p.Pro321Thr)
 gnomAD v4
2g.38076347C>TCA2658668358CYP1B1c.-70-5037G>A (n.-70-5037G>A)
c.961C>T (p.Pro321Ser)
 gnomAD v4
2g.38076348C>ACA768427068CYP1B1c.-70-5038G>T (n.-70-5038G>T)
c.962C>A (p.Pro321Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.38076348C=CA1245628871CYP1B1c.-70-5038G= (n.-70-5038G=)
c.962C= (p.Pro321=)
2g.38076348C>TCA531942526CYP1B1c.-70-5038G>A (n.-70-5038G>A)
c.962C>T (p.Pro321Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076349A=CA1245628872CYP1B1c.-70-5039T= (n.-70-5039T=)
c.963A= (p.Pro321=)
2g.38076349A>GCA768427069CYP1B1c.-70-5039T>C (n.-70-5039T>C)
c.963A>G (p.Pro321=)
 dbSNP gnomAD v3 gnomAD v4
2g.38076350T>CCA2658668359CYP1B1c.-70-5040A>G (n.-70-5040A>G)
c.964T>C (p.Leu322=)
 gnomAD v4
2g.38076350T>GCA2658668360CYP1B1c.-70-5040A>C (n.-70-5040A>C)
c.964T>G (p.Leu322Val)
 gnomAD v4
2g.38076351T>CCA531942528CYP1B1c.-70-5041A>G (n.-70-5041A>G)
c.965T>C (p.Leu322Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076351T=CA1245628873CYP1B1c.-70-5041A= (n.-70-5041A=)
c.965T= (p.Leu322=)
2g.38076351_38076352insACA2749546818CYP1B1c.-70-5042_-70-5041insT (n.-70-5042_-70-5041insT)
c.965_966insA (p.Cys323ValfsTer3)
2g.38076352G>ACA2658668362CYP1B1c.-70-5042C>T (n.-70-5042C>T)
c.966G>A (p.Leu322=)
 gnomAD v4
2g.38076352G>CCA45513200CYP1B1c.-70-5042C>G (n.-70-5042C>G)
c.966G>C (p.Leu322Phe)
 dbSNP
2g.38076352G=CA1245628874CYP1B1c.-70-5042C= (n.-70-5042C=)
c.966G= (p.Leu322=)
2g.38076352G>TCA2658668361CYP1B1c.-70-5042C>A (n.-70-5042C>A)
c.966G>T (p.Leu322Phe)
 gnomAD v4
2g.38076352_38076353insACCA2749546819CYP1B1c.-70-5043_-70-5042insGT (n.-70-5043_-70-5042insGT)
c.966_967insAC (p.Cys323ThrfsTer?)
2g.38076352_38076353insAGACA2749546820CYP1B1c.-70-5043_-70-5042insTCT (n.-70-5043_-70-5042insTCT)
c.966_967insAGA (p.Leu322_Cys323insArg)
2g.38076352_38076353insAGAACA2749546821CYP1B1c.-70-5043_-70-5042insTTCT (n.-70-5043_-70-5042insTTCT)
c.966_967insAGAA (p.Cys323ArgfsTer4)
2g.38076353T>ACA2749546822CYP1B1c.-70-5043A>T (n.-70-5043A>T)
c.967T>A (p.Cys323Ser)
2g.38076353T>CCA2658668363CYP1B1c.-70-5043A>G (n.-70-5043A>G)
c.967T>C (p.Cys323Arg)
 gnomAD v4
2g.38076354G>ACA2749546823CYP1B1c.-70-5044C>T (n.-70-5044C>T)
c.968G>A (p.Cys323Tyr)
2g.38076354G>CCA2749546824CYP1B1c.-70-5044C>G (n.-70-5044C>G)
c.968G>C (p.Cys323Ser)
2g.38076354G>TCA2658668364CYP1B1c.-70-5044C>A (n.-70-5044C>A)
c.968G>T (p.Cys323Phe)
 gnomAD v4
2g.38076354_38076355insATCA2749546826CYP1B1c.-70-5045_-70-5044insAT (n.-70-5045_-70-5044insAT)
c.968_969insAT (p.Cys323Ter)
2g.38076355C>ACA2658668365CYP1B1c.-70-5045G>T (n.-70-5045G>T)
c.969C>A (p.Cys323Ter)
 gnomAD v4
2g.38076355C>TCA2658668366CYP1B1c.-70-5045G>A (n.-70-5045G>A)
c.969C>T (p.Cys323=)
 gnomAD v4
2g.38076355_38076359delCA2749546825CYP1B1c.-70-5049_-70-5045del (n.-70-5049_-70-5045del)
c.969_973del (p.Cys323Ter)
2g.38076356G>ACA768427070CYP1B1c.-70-5046C>T (n.-70-5046C>T)
c.970G>A (p.Gly324Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.38076356G=CA1245628875CYP1B1c.-70-5046C= (n.-70-5046C=)
c.970G= (p.Gly324=)
2g.38076356G>TCA2658668367CYP1B1c.-70-5046C>A (n.-70-5046C>A)
c.970G>T (p.Gly324Cys)
 gnomAD v4
2g.38076356_38076358delCA2749546827CYP1B1c.-70-5048_-70-5046del (n.-70-5048_-70-5046del)
c.970_972del (p.Gly324del)
2g.38076356_38076359delCA2749546828CYP1B1c.-70-5049_-70-5046del (n.-70-5049_-70-5046del)
c.970_973del (p.Gly324ThrfsTer?)
2g.38076357G>ACA2658668368CYP1B1c.-70-5047C>T (n.-70-5047C>T)
c.971G>A (p.Gly324Asp)
 gnomAD v4
2g.38076357G>CCA2749546829CYP1B1c.-70-5047C>G (n.-70-5047C>G)
c.971G>C (p.Gly324Ala)
2g.38076357_38076358insACA2749546830CYP1B1c.-70-5048_-70-5047insT (n.-70-5048_-70-5047insT)
c.971_972insA (p.Asn325Ter)
2g.38076358delCA2749546831CYP1B1c.-70-5048del (n.-70-5048del)
c.972del (p.Asn325ThrfsTer?)
2g.38076358T>ACA2749546833CYP1B1c.-70-5048A>T (n.-70-5048A>T)
c.972T>A (p.Gly324=)
2g.38076358T>CCA2749546834CYP1B1c.-70-5048A>G (n.-70-5048A>G)
c.972T>C (p.Gly324=)
2g.38076358_38076359delCA2749546832CYP1B1c.-70-5049_-70-5048del (n.-70-5049_-70-5048del)
c.972_973del (p.Asn325ProfsTer?)
2g.38076359A=CA1245628876CYP1B1c.-70-5049T= (n.-70-5049T=)
c.973A= (p.Asn325=)
2g.38076359A>GCA768427071CYP1B1c.-70-5049T>C (n.-70-5049T>C)
c.973A>G (p.Asn325Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.38076359_38076360insGTCCA2749546835CYP1B1c.-70-5050_-70-5049insGAC (n.-70-5050_-70-5049insGAC)
c.973_974insGTC (p.Asn325delinsSerHis)
2g.38076360_38076361delCA2749546836CYP1B1c.-70-5051_-70-5050del (n.-70-5051_-70-5050del)
c.974_975del (p.Asn325ThrfsTer?)
2g.38076361C>ACA2658668369CYP1B1c.-70-5051G>T (n.-70-5051G>T)
c.975C>A (p.Asn325Lys)
 gnomAD v4
2g.38076361C=CA1245628877CYP1B1c.-70-5051G= (n.-70-5051G=)
c.975C= (p.Asn325=)
2g.38076361C>TCA1245628878CYP1B1c.-70-5051G>A (n.-70-5051G>A)
c.975C>T (p.Asn325=)
 dbSNP gnomAD v4
2g.38076362_38076372delCA2749546837CYP1B1c.-70-5061_-70-5051del (n.-70-5061_-70-5051del)
c.976_986del (p.Arg326ThrfsTer?)
2g.38076362C>ACA768427075CYP1B1c.-70-5052G>T (n.-70-5052G>T)
c.976C>A (p.Arg326Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.38076362C=CA1245628879CYP1B1c.-70-5052G= (n.-70-5052G=)
c.976C= (p.Arg326=)
2g.38076362C>TCA2658668370CYP1B1c.-70-5052G>A (n.-70-5052G>A)
c.976C>T (p.Arg326Cys)
 gnomAD v4
2g.38076362_38076367delCA2749546838CYP1B1c.-70-5057_-70-5052del (n.-70-5057_-70-5052del)
c.976_981del (p.Arg326_Ala327del)
2g.38076363_38076372delCA2749546839CYP1B1c.-70-5061_-70-5052del (n.-70-5061_-70-5052del)
c.977_986del (p.Arg326HisfsTer?)
2g.38076363_38076374delCA2749546840CYP1B1c.-70-5063_-70-5052del (n.-70-5063_-70-5052del)
c.977_988del (p.Arg326_Ser329del)
2g.38076362_38076363insAGACA2749546841CYP1B1c.-70-5053_-70-5052insTCT (n.-70-5053_-70-5052insTCT)
c.976_977insAGA (p.Arg326delinsGlnSer)
2g.38076363G>ACA2658668371CYP1B1c.-70-5053C>T (n.-70-5053C>T)
c.977G>A (p.Arg326His)
 gnomAD v4
2g.38076363_38076367delCA2749546842CYP1B1c.-70-5057_-70-5053del (n.-70-5057_-70-5053del)
c.977_981del (p.Arg326LeufsTer?)
2g.38076364C>ACA2658668372CYP1B1c.-70-5054G>T (n.-70-5054G>T)
c.978C>A (p.Arg326=)
 gnomAD v4
2g.38076364C>GCA2749546845CYP1B1c.-70-5054G>C (n.-70-5054G>C)
c.978C>G (p.Arg326=)
2g.38076364C>TCA2658668373CYP1B1c.-70-5054G>A (n.-70-5054G>A)
c.978C>T (p.Arg326=)
 gnomAD v4
2g.38076364_38076367delCA2749546843CYP1B1c.-70-5057_-70-5054del (n.-70-5057_-70-5054del)
c.978_981del (p.Ala327HisfsTer?)
2g.38076365_38076372delCA2749546844CYP1B1c.-70-5061_-70-5054del (n.-70-5061_-70-5054del)
c.979_986del (p.Ala327ThrfsTer?)
2g.38076364_38076365insAGACA2749546846CYP1B1c.-70-5055_-70-5054insTCT (n.-70-5055_-70-5054insTCT)
c.978_979insAGA (p.Arg326_Ala327insArg)
2g.38076365G>ACA2658668374CYP1B1c.-70-5055C>T (n.-70-5055C>T)
c.979G>A (p.Ala327Thr)
 gnomAD v4
2g.38076365G>CCA1245628881CYP1B1c.-70-5055C>G (n.-70-5055C>G)
c.979G>C (p.Ala327Pro)
 dbSNP
2g.38076365G=CA1245628880CYP1B1c.-70-5055C= (n.-70-5055C=)
c.979G= (p.Ala327=)
2g.38076365G>TCA2658668375CYP1B1c.-70-5055C>A (n.-70-5055C>A)
c.979G>T (p.Ala327Ser)
 gnomAD v4
2g.38076365_38076366insACA2749546847CYP1B1c.-70-5056_-70-5055insT (n.-70-5056_-70-5055insT)
c.979_980insA (p.Ala327AspfsTer?)
2g.38076366C>ACA2658668376CYP1B1c.-70-5056G>T (n.-70-5056G>T)
c.980C>A (p.Ala327Asp)
 gnomAD v4
2g.38076366C>TCA2658668377CYP1B1c.-70-5056G>A (n.-70-5056G>A)
c.980C>T (p.Ala327Val)
 gnomAD v4
2g.38076367T>ACA2749546848CYP1B1c.-70-5057A>T (n.-70-5057A>T)
c.981T>A (p.Ala327=)
2g.38076367T>CCA2658668378CYP1B1c.-70-5057A>G (n.-70-5057A>G)
c.981T>C (p.Ala327=)
 gnomAD v4
2g.38076367_38076368insACCA2749546849CYP1B1c.-70-5058_-70-5057insGT (n.-70-5058_-70-5057insGT)
c.981_982insAC (p.Ser328ThrfsTer?)
2g.38076367_38076368insAGCA2749546850CYP1B1c.-70-5058_-70-5057insCT (n.-70-5058_-70-5057insCT)
c.981_982insAG (p.Ser329HisfsTer?)
2g.38076367_38076368insAGGCA2749546851CYP1B1c.-70-5058_-70-5057insCCT (n.-70-5058_-70-5057insCCT)
c.981_982insAGG (p.Ala327_Ser328insArg)
2g.38076368T>ACA2749546852CYP1B1c.-70-5058A>T (n.-70-5058A>T)
c.982T>A (p.Ser328Thr)
2g.38076368T>CCA2658668379CYP1B1c.-70-5058A>G (n.-70-5058A>G)
c.982T>C (p.Ser328Pro)
 gnomAD v4
2g.38076368_38076369insAGCA2749546853CYP1B1c.-70-5059_-70-5058insCT (n.-70-5059_-70-5058insCT)
c.982_983insAG (p.Ser328Ter)
2g.38076369C>ACA2658668380CYP1B1c.-70-5059G>T (n.-70-5059G>T)
c.983C>A (p.Ser328Ter)
 gnomAD v4
2g.38076369C>TCA2658668381CYP1B1c.-70-5059G>A (n.-70-5059G>A)
c.983C>T (p.Ser328Leu)
 gnomAD v4
2g.38076370A>GCA2658668382CYP1B1c.-70-5060T>C (n.-70-5060T>C)
c.984A>G (p.Ser328=)
 gnomAD v4
2g.38076370_38076371delCA2749546854CYP1B1c.-70-5061_-70-5060del (n.-70-5061_-70-5060del)
c.984_985del (p.Ser329ThrfsTer?)
2g.38076371T>ACA2658668383CYP1B1c.-70-5061A>T (n.-70-5061A>T)
c.985T>A (p.Ser329Thr)
 gnomAD v4
2g.38076371_38076372delCA2749546855CYP1B1c.-70-5062_-70-5061del (n.-70-5062_-70-5061del)
c.985_986del (p.Ser329ThrfsTer?)
2g.38076372delCA2749546856CYP1B1c.-70-5062del (n.-70-5062del)
c.986del (p.Ser329TyrfsTer?)
2g.38076372C>ACA2658668385CYP1B1c.-70-5062G>T (n.-70-5062G>T)
c.986C>A (p.Ser329Ter)
 gnomAD v4
2g.38076372C=CA1245628882CYP1B1c.-70-5062G= (n.-70-5062G=)
c.986C= (p.Ser329=)
2g.38076372C>TCA1245628883CYP1B1c.-70-5062G>A (n.-70-5062G>A)
c.986C>T (p.Ser329Leu)
 dbSNP
2g.38076374_38076375delCA2658668384CYP1B1c.-70-5063_-70-5062del (n.-70-5063_-70-5062del)
c.988_989del (p.Gln330AlafsTer?)
 gnomAD v4
2g.38076373A>GCA2658668386CYP1B1c.-70-5063T>C (n.-70-5063T>C)
c.987A>G (p.Ser329=)
 gnomAD v4
2g.38076374C>ACA2658668387CYP1B1c.-70-5064G>T (n.-70-5064G>T)
c.988C>A (p.Gln330Lys)
 gnomAD v4
2g.38076374C>GCA2749546857CYP1B1c.-70-5064G>C (n.-70-5064G>C)
c.988C>G (p.Gln330Glu)
2g.38076374C>TCA2658668388CYP1B1c.-70-5064G>A (n.-70-5064G>A)
c.988C>T (p.Gln330Ter)
 gnomAD v4
2g.38076375A>CCA2658668389CYP1B1c.-70-5065T>G (n.-70-5065T>G)
c.989A>C (p.Gln330Pro)
 gnomAD v4
2g.38076375A>GCA2658668390CYP1B1c.-70-5065T>C (n.-70-5065T>C)
c.989A>G (p.Gln330Arg)
 gnomAD v4
2g.38076375_38076376insCTCCA2749546861CYP1B1c.-70-5066_-70-5065insGAG (n.-70-5066_-70-5065insGAG)
c.989_990insCTC (p.Gln330delinsHisSer)
2g.38076376delCA2749546860CYP1B1c.-70-5066del (n.-70-5066del)
c.990del (p.Gln330HisfsTer?)
2g.38076376G>ACA2658668391CYP1B1c.-70-5066C>T (n.-70-5066C>T)
c.990G>A (p.Gln330=)
 gnomAD v4
2g.38076376G>CCA2658668393CYP1B1c.-70-5066C>G (n.-70-5066C>G)
c.990G>C (p.Gln330His)
 gnomAD v4
2g.38076376G>TCA2658668392CYP1B1c.-70-5066C>A (n.-70-5066C>A)
c.990G>T (p.Gln330His)
 gnomAD v4
2g.38076376_38076383delCA2749546858CYP1B1c.-70-5073_-70-5066del (n.-70-5073_-70-5066del)
c.990_997del (p.Gln330HisfsTer?)
2g.38076384_38076610delCA2749546859CYP1B1c.-70-5292_-70-5066del (n.-70-5292_-70-5066del)
c.998_1174+50del
2g.38076377C>ACA2658668394CYP1B1c.-70-5067G>T (n.-70-5067G>T)
c.991C>A (p.Pro331Thr)
 gnomAD v4
2g.38076377C>GCA2749546864CYP1B1c.-70-5067G>C (n.-70-5067G>C)
c.991C>G (p.Pro331Ala)
2g.38076377C>TCA2658668395CYP1B1c.-70-5067G>A (n.-70-5067G>A)
c.991C>T (p.Pro331Ser)
 gnomAD v4
2g.38076378delCA2749546862CYP1B1c.-70-5067del (n.-70-5067del)
c.992del (p.Pro331HisfsTer?)
2g.38076377_38076385delCA2749546863CYP1B1c.-70-5075_-70-5067del (n.-70-5075_-70-5067del)
c.991_999del (p.Pro331_Pro333del)
2g.38076378C>ACA2658668396CYP1B1c.-70-5068G>T (n.-70-5068G>T)
c.992C>A (p.Pro331Gln)
 gnomAD v4
2g.38076378C>TCA2658668397CYP1B1c.-70-5068G>A (n.-70-5068G>A)
c.992C>T (p.Pro331Leu)
 gnomAD v4
2g.38076379A=CA1245628884CYP1B1c.-70-5069T= (n.-70-5069T=)
c.993A= (p.Pro331=)
2g.38076379A>CCA2658668398CYP1B1c.-70-5069T>G (n.-70-5069T>G)
c.993A>C (p.Pro331=)
 gnomAD v4
2g.38076379A>GCA45513213CYP1B1c.-70-5069T>C (n.-70-5069T>C)
c.993A>G (p.Pro331=)
 dbSNP
2g.38076379A>TCA1245628885CYP1B1c.-70-5069T>A (n.-70-5069T>A)
c.993A>T (p.Pro331=)
 dbSNP
2g.38076381delCA2658668399CYP1B1c.-70-5070del (n.-70-5070del)
c.995del (p.Pro332LeufsTer?)
 gnomAD v4
2g.38076382_38076384delCA2749546865CYP1B1c.-70-5072_-70-5070del (n.-70-5072_-70-5070del)
c.996_998del (p.Pro333del)
2g.38076381_38076384delCA2749546866CYP1B1c.-70-5073_-70-5070del (n.-70-5073_-70-5070del)
c.995_998del (p.Pro332GlnfsTer?)
2g.38076380_38076381insACACA2749546867CYP1B1c.-70-5071_-70-5070insTGT (n.-70-5071_-70-5070insTGT)
c.994_995insACA (p.Pro332delinsHisThr)
2g.38076381C>ACA2658668400CYP1B1c.-70-5071G>T (n.-70-5071G>T)
c.995C>A (p.Pro332His)
 gnomAD v4
2g.38076381C>TCA2658668401CYP1B1c.-70-5071G>A (n.-70-5071G>A)
c.995C>T (p.Pro332Leu)
 gnomAD v4
2g.38076382T>ACA2658668402CYP1B1c.-70-5072A>T (n.-70-5072A>T)
c.996T>A (p.Pro332=)
 gnomAD v4
2g.38076382T>CCA2658668403CYP1B1c.-70-5072A>G (n.-70-5072A>G)
c.996T>C (p.Pro332=)
 gnomAD v4
2g.38076383C>ACA2581763458CYP1B1c.-70-5073G>T (n.-70-5073G>T)
c.997C>A (p.Pro333Thr)
 gnomAD v4
2g.38076383C=CA1245628886CYP1B1c.-70-5073G= (n.-70-5073G=)
c.997C= (p.Pro333=)
2g.38076383C>GCA2581763457CYP1B1c.-70-5073G>C (n.-70-5073G>C)
c.997C>G (p.Pro333Ala)
2g.38076383C>TCA45513228CYP1B1c.-70-5073G>A (n.-70-5073G>A)
c.997C>T (p.Pro333Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.38076384C>TCA2658668404CYP1B1c.-70-5074G>A (n.-70-5074G>A)
c.998C>T (p.Pro333Leu)
 gnomAD v4
2g.38076384_38076389delCA2749546868CYP1B1c.-70-5079_-70-5074del (n.-70-5079_-70-5074del)
c.998_1003del (p.Pro333_Glu335delinsGln)
2g.38076385A>TCA2749546869CYP1B1c.-70-5075T>A (n.-70-5075T>A)
c.999A>T (p.Pro333=)
2g.38076385_38076386insCATCA2749546870CYP1B1c.-70-5076_-70-5075insATG (n.-70-5076_-70-5075insATG)
c.999_1000insCAT (p.Pro333_Ile334insHis)
2g.38076386A=CA1245628887CYP1B1c.-70-5076T= (n.-70-5076T=)
c.1000A= (p.Ile334=)
2g.38076386A>CCA2658668405CYP1B1c.-70-5076T>G (n.-70-5076T>G)
c.1000A>C (p.Ile334Leu)
 gnomAD v4
2g.38076386A>GCA1245628888CYP1B1c.-70-5076T>C (n.-70-5076T>C)
c.1000A>G (p.Ile334Val)
 dbSNP gnomAD v4
2g.38076386_38076388delCA2749546871CYP1B1c.-70-5078_-70-5076del (n.-70-5078_-70-5076del)
c.1000_1002del (p.Ile334del)
2g.38076387T>CCA2658668406CYP1B1c.-70-5077A>G (n.-70-5077A>G)
c.1001T>C (p.Ile334Thr)
 gnomAD v4
2g.38076387T>GCA2749546872CYP1B1c.-70-5077A>C (n.-70-5077A>C)
c.1001T>G (p.Ile334Ser)
2g.38076387_38076388insACACA2749546873CYP1B1c.-70-5078_-70-5077insTGT (n.-70-5078_-70-5077insTGT)
c.1001_1002insACA (p.Ile334_Glu335insHis)
2g.38076388C>ACA2658668407CYP1B1c.-70-5078G>T (n.-70-5078G>T)
c.1002C>A (p.Ile334=)
 gnomAD v4
2g.38076388C>GCA2658668408CYP1B1c.-70-5078G>C (n.-70-5078G>C)
c.1002C>G (p.Ile334Met)
 gnomAD v4
2g.38076388C>TCA2658668409CYP1B1c.-70-5078G>A (n.-70-5078G>A)
c.1002C>T (p.Ile334=)
 gnomAD v4
2g.38076388_38076389insACA2749546874CYP1B1c.-70-5079_-70-5078insT (n.-70-5079_-70-5078insT)
c.1002_1003insA (p.Glu335ArgfsTer?)
2g.38076389delCA2749546875CYP1B1c.-70-5079del (n.-70-5079del)
c.1003del (p.Glu335ArgfsTer?)
2g.38076389G>ACA11063867CYP1B1c.-70-5079C>T (n.-70-5079C>T)
c.1003G>A (p.Glu335Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076389G>CCA2580585651CYP1B1c.-70-5079C>G (n.-70-5079C>G)
c.1003G>C (p.Glu335Gln)
2g.38076389G=CA1245628889CYP1B1c.-70-5079C= (n.-70-5079C=)
c.1003G= (p.Glu335=)
2g.38076389G>TCA2580585652CYP1B1c.-70-5079C>A (n.-70-5079C>A)
c.1003G>T (p.Glu335Ter)
 gnomAD v4
2g.38076390A>GCA2658668410CYP1B1c.-70-5080T>C (n.-70-5080T>C)
c.1004A>G (p.Glu335Gly)
 gnomAD v4
2g.38076391G>ACA2658668411CYP1B1c.-70-5081C>T (n.-70-5081C>T)
c.1005G>A (p.Glu335=)
 gnomAD v4
2g.38076391G=CA1245628891CYP1B1c.-70-5081C= (n.-70-5081C=)
c.1005G= (p.Glu335=)
2g.38076391G>TCA1245628890CYP1B1c.-70-5081C>A (n.-70-5081C>A)
c.1005G>T (p.Glu335Asp)
 dbSNP gnomAD v4
2g.38076391_38076395delCA2749546876CYP1B1c.-70-5085_-70-5081del (n.-70-5085_-70-5081del)
c.1005_1009del (p.Glu335AspfsTer?)
2g.38076392G>ACA1245628893CYP1B1c.-70-5082C>T (n.-70-5082C>T)
c.1006G>A (p.Ala336Thr)
 dbSNP gnomAD v4
2g.38076392G=CA1245628892CYP1B1c.-70-5082C= (n.-70-5082C=)
c.1006G= (p.Ala336=)
2g.38076392G>TCA2658668412CYP1B1c.-70-5082C>A (n.-70-5082C>A)
c.1006G>T (p.Ala336Ser)
 gnomAD v4
2g.38076392_38076396delCA2749546877CYP1B1c.-70-5086_-70-5082del (n.-70-5086_-70-5082del)
c.1006_1010del (p.Ala336ThrfsTer?)
2g.38076393C>ACA2658668415CYP1B1c.-70-5083G>T (n.-70-5083G>T)
c.1007C>A (p.Ala336Asp)
 gnomAD v4
2g.38076393C>TCA2658668413CYP1B1c.-70-5083G>A (n.-70-5083G>A)
c.1007C>T (p.Ala336Val)
 gnomAD v4
2g.38076394delCA2658668414CYP1B1c.-70-5083del (n.-70-5083del)
c.1008del (p.Ala337HisfsTer?)
 gnomAD v4
2g.38076393_38076394insACA2749546878CYP1B1c.-70-5084_-70-5083insT (n.-70-5084_-70-5083insT)
c.1007_1008insA (p.Ala337ArgfsTer?)
2g.38076394C>ACA2658668416CYP1B1c.-70-5084G>T (n.-70-5084G>T)
c.1008C>A (p.Ala336=)
 gnomAD v4
2g.38076394C=CA1245628894CYP1B1c.-70-5084G= (n.-70-5084G=)
c.1008C= (p.Ala336=)
2g.38076394C>TCA45513231CYP1B1c.-70-5084G>A (n.-70-5084G>A)
c.1008C>T (p.Ala336=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched