Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.189864280C>ACA355753274TP63c.628C>A (p.Pro210Thr)
c.346C>A (p.Pro116Thr)
c.91C>A (p.Pro31Thr)
n.452C>A
c.577C>A (p.Pro193Thr)
c.625C>A (p.Pro209Thr)
c.622C>A (p.Pro208Thr)
c.589C>A (p.Pro197Thr)
3g.189864280C>GCA355753276TP63c.628C>G (p.Pro210Ala)
c.346C>G (p.Pro116Ala)
c.91C>G (p.Pro31Ala)
n.452C>G
c.577C>G (p.Pro193Ala)
c.625C>G (p.Pro209Ala)
c.622C>G (p.Pro208Ala)
c.589C>G (p.Pro197Ala)
3g.189864280C>TCA355753278TP63c.628C>T (p.Pro210Ser)
c.346C>T (p.Pro116Ser)
c.91C>T (p.Pro31Ser)
n.452C>T
c.577C>T (p.Pro193Ser)
c.625C>T (p.Pro209Ser)
c.622C>T (p.Pro208Ser)
c.589C>T (p.Pro197Ser)
3g.189864281C>ACA355753279TP63c.629C>A (p.Pro210His)
c.347C>A (p.Pro116His)
c.92C>A (p.Pro31His)
n.453C>A
c.578C>A (p.Pro193His)
c.626C>A (p.Pro209His)
c.623C>A (p.Pro208His)
c.590C>A (p.Pro197His)
3g.189864281C>GCA355753281TP63c.629C>G (p.Pro210Arg)
c.347C>G (p.Pro116Arg)
c.92C>G (p.Pro31Arg)
n.453C>G
c.578C>G (p.Pro193Arg)
c.626C>G (p.Pro209Arg)
c.623C>G (p.Pro208Arg)
c.590C>G (p.Pro197Arg)
3g.189864281C>TCA355753282TP63c.629C>T (p.Pro210Leu)
c.347C>T (p.Pro116Leu)
c.92C>T (p.Pro31Leu)
n.453C>T
c.578C>T (p.Pro193Leu)
c.626C>T (p.Pro209Leu)
c.623C>T (p.Pro208Leu)
c.590C>T (p.Pro197Leu)
3g.189864282C>ACA437412877TP63c.630C>A (p.Pro210=)
c.348C>A (p.Pro116=)
c.93C>A (p.Pro31=)
n.454C>A
c.579C>A (p.Pro193=)
c.627C>A (p.Pro209=)
c.624C>A (p.Pro208=)
c.591C>A (p.Pro197=)
3g.189864282C=CA1428525412TP63c.630C= (p.Pro210=)
c.348C= (p.Pro116=)
c.93C= (p.Pro31=)
n.454C=
c.579C= (p.Pro193=)
c.627C= (p.Pro209=)
c.624C= (p.Pro208=)
c.591C= (p.Pro197=)
3g.189864282C>GCA437412878TP63c.630C>G (p.Pro210=)
c.348C>G (p.Pro116=)
c.93C>G (p.Pro31=)
n.454C>G
c.579C>G (p.Pro193=)
c.627C>G (p.Pro209=)
c.624C>G (p.Pro208=)
c.591C>G (p.Pro197=)
3g.189864282C>TCA2752214TP63c.630C>T (p.Pro210=)
c.348C>T (p.Pro116=)
c.93C>T (p.Pro31=)
n.454C>T
c.579C>T (p.Pro193=)
c.627C>T (p.Pro209=)
c.624C>T (p.Pro208=)
c.591C>T (p.Pro197=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864283A=CA1428525413TP63c.631A= (p.Ile211=)
c.349A= (p.Ile117=)
c.94A= (p.Ile32=)
n.455A=
c.580A= (p.Ile194=)
c.628A= (p.Ile210=)
c.625A= (p.Ile209=)
c.592A= (p.Ile198=)
3g.189864283A>CCA355753285TP63c.631A>C (p.Ile211Leu)
c.349A>C (p.Ile117Leu)
c.94A>C (p.Ile32Leu)
n.455A>C
c.580A>C (p.Ile194Leu)
c.628A>C (p.Ile210Leu)
c.625A>C (p.Ile209Leu)
c.592A>C (p.Ile198Leu)
3g.189864283A>GCA355753287TP63c.631A>G (p.Ile211Val)
c.349A>G (p.Ile117Val)
c.94A>G (p.Ile32Val)
n.455A>G
c.580A>G (p.Ile194Val)
c.628A>G (p.Ile210Val)
c.625A>G (p.Ile209Val)
c.592A>G (p.Ile198Val)
dbSNP gnomAD v3 gnomAD v4
3g.189864283A>TCA355753284TP63c.631A>T (p.Ile211Phe)
c.349A>T (p.Ile117Phe)
c.94A>T (p.Ile32Phe)
n.455A>T
c.580A>T (p.Ile194Phe)
c.628A>T (p.Ile210Phe)
c.625A>T (p.Ile209Phe)
c.592A>T (p.Ile198Phe)
3g.189864284T>ACA355753288TP63c.632T>A (p.Ile211Asn)
c.350T>A (p.Ile117Asn)
c.95T>A (p.Ile32Asn)
n.456T>A
c.581T>A (p.Ile194Asn)
c.629T>A (p.Ile210Asn)
c.626T>A (p.Ile209Asn)
c.593T>A (p.Ile198Asn)
3g.189864284T>CCA355753291TP63c.632T>C (p.Ile211Thr)
c.350T>C (p.Ile117Thr)
c.95T>C (p.Ile32Thr)
n.456T>C
c.581T>C (p.Ile194Thr)
c.629T>C (p.Ile210Thr)
c.626T>C (p.Ile209Thr)
c.593T>C (p.Ile198Thr)
dbSNP gnomAD v2
3g.189864284T>GCA355753289TP63c.632T>G (p.Ile211Ser)
c.350T>G (p.Ile117Ser)
c.95T>G (p.Ile32Ser)
n.456T>G
c.581T>G (p.Ile194Ser)
c.629T>G (p.Ile210Ser)
c.626T>G (p.Ile209Ser)
c.593T>G (p.Ile198Ser)
3g.189864284T=CA1428525414TP63c.632T= (p.Ile211=)
c.350T= (p.Ile117=)
c.95T= (p.Ile32=)
n.456T=
c.581T= (p.Ile194=)
c.629T= (p.Ile210=)
c.626T= (p.Ile209=)
c.593T= (p.Ile198=)
3g.189864285C>ACA437412880TP63c.633C>A (p.Ile211=)
c.351C>A (p.Ile117=)
c.96C>A (p.Ile32=)
n.457C>A
c.582C>A (p.Ile194=)
c.630C>A (p.Ile210=)
c.627C>A (p.Ile209=)
c.594C>A (p.Ile198=)
3g.189864285C=CA1428525415TP63c.633C= (p.Ile211=)
c.351C= (p.Ile117=)
c.96C= (p.Ile32=)
n.457C=
c.582C= (p.Ile194=)
c.630C= (p.Ile210=)
c.627C= (p.Ile209=)
c.594C= (p.Ile198=)
3g.189864285C>GCA355753293TP63c.633C>G (p.Ile211Met)
c.351C>G (p.Ile117Met)
c.96C>G (p.Ile32Met)
n.457C>G
c.582C>G (p.Ile194Met)
c.630C>G (p.Ile210Met)
c.627C>G (p.Ile209Met)
c.594C>G (p.Ile198Met)
3g.189864285C>TCA2752215TP63c.633C>T (p.Ile211=)
c.351C>T (p.Ile117=)
c.96C>T (p.Ile32=)
n.457C>T
c.582C>T (p.Ile194=)
c.630C>T (p.Ile210=)
c.627C>T (p.Ile209=)
c.594C>T (p.Ile198=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864286C>ACA89741996TP63c.634C>A (p.Gln212Lys)
c.352C>A (p.Gln118Lys)
c.97C>A (p.Gln33Lys)
n.458C>A
c.583C>A (p.Gln195Lys)
c.631C>A (p.Gln211Lys)
c.628C>A (p.Gln210Lys)
c.595C>A (p.Gln199Lys)
dbSNP gnomAD v3 gnomAD v4
3g.189864286C=CA1428525416TP63c.634C= (p.Gln212=)
c.352C= (p.Gln118=)
c.97C= (p.Gln33=)
n.458C=
c.583C= (p.Gln195=)
c.631C= (p.Gln211=)
c.628C= (p.Gln210=)
c.595C= (p.Gln199=)
3g.189864286C>GCA355753295TP63c.634C>G (p.Gln212Glu)
c.352C>G (p.Gln118Glu)
c.97C>G (p.Gln33Glu)
n.458C>G
c.583C>G (p.Gln195Glu)
c.631C>G (p.Gln211Glu)
c.628C>G (p.Gln210Glu)
c.595C>G (p.Gln199Glu)
3g.189864286C>TCA355753297TP63c.634C>T (p.Gln212Ter)
c.352C>T (p.Gln118Ter)
c.97C>T (p.Gln33Ter)
n.458C>T
c.583C>T (p.Gln195Ter)
c.631C>T (p.Gln211Ter)
c.628C>T (p.Gln210Ter)
c.595C>T (p.Gln199Ter)
3g.189864287A>CCA355753299TP63c.635A>C (p.Gln212Pro)
c.353A>C (p.Gln118Pro)
c.98A>C (p.Gln33Pro)
n.459A>C
c.584A>C (p.Gln195Pro)
c.632A>C (p.Gln211Pro)
c.629A>C (p.Gln210Pro)
c.596A>C (p.Gln199Pro)
3g.189864287A>GCA355753300TP63c.635A>G (p.Gln212Arg)
c.353A>G (p.Gln118Arg)
c.98A>G (p.Gln33Arg)
n.459A>G
c.584A>G (p.Gln195Arg)
c.632A>G (p.Gln211Arg)
c.629A>G (p.Gln210Arg)
c.596A>G (p.Gln199Arg)
gnomAD v4
3g.189864287A>TCA355753302TP63c.635A>T (p.Gln212Leu)
c.353A>T (p.Gln118Leu)
c.98A>T (p.Gln33Leu)
n.459A>T
c.584A>T (p.Gln195Leu)
c.632A>T (p.Gln211Leu)
c.629A>T (p.Gln210Leu)
c.596A>T (p.Gln199Leu)
3g.189864288G>ACA437412881TP63c.636G>A (p.Gln212=)
c.354G>A (p.Gln118=)
c.99G>A (p.Gln33=)
n.460G>A
c.585G>A (p.Gln195=)
c.633G>A (p.Gln211=)
c.630G>A (p.Gln210=)
c.597G>A (p.Gln199=)
3g.189864288G>CCA355753303TP63c.636G>C (p.Gln212His)
c.354G>C (p.Gln118His)
c.99G>C (p.Gln33His)
n.460G>C
c.585G>C (p.Gln195His)
c.633G>C (p.Gln211His)
c.630G>C (p.Gln210His)
c.597G>C (p.Gln199His)
dbSNP
3g.189864288G=CA1428525417TP63c.636G= (p.Gln212=)
c.354G= (p.Gln118=)
c.99G= (p.Gln33=)
n.460G=
c.585G= (p.Gln195=)
c.633G= (p.Gln211=)
c.630G= (p.Gln210=)
c.597G= (p.Gln199=)
3g.189864288G>TCA355753304TP63c.636G>T (p.Gln212His)
c.354G>T (p.Gln118His)
c.99G>T (p.Gln33His)
n.460G>T
c.585G>T (p.Gln195His)
c.633G>T (p.Gln211His)
c.630G>T (p.Gln210His)
c.597G>T (p.Gln199His)
3g.189864289A=CA1428525418TP63c.637A= (p.Ile213=)
c.355A= (p.Ile119=)
c.100A= (p.Ile34=)
n.461A=
c.586A= (p.Ile196=)
c.634A= (p.Ile212=)
c.631A= (p.Ile211=)
c.598A= (p.Ile200=)
3g.189864289A>CCA355753306TP63c.637A>C (p.Ile213Leu)
c.355A>C (p.Ile119Leu)
c.100A>C (p.Ile34Leu)
n.461A>C
c.586A>C (p.Ile196Leu)
c.634A>C (p.Ile212Leu)
c.631A>C (p.Ile211Leu)
c.598A>C (p.Ile200Leu)
3g.189864289A>GCA355753309TP63c.637A>G (p.Ile213Val)
c.355A>G (p.Ile119Val)
c.100A>G (p.Ile34Val)
n.461A>G
c.586A>G (p.Ile196Val)
c.634A>G (p.Ile212Val)
c.631A>G (p.Ile211Val)
c.598A>G (p.Ile200Val)
dbSNP
3g.189864289A>TCA355753307TP63c.637A>T (p.Ile213Phe)
c.355A>T (p.Ile119Phe)
c.100A>T (p.Ile34Phe)
n.461A>T
c.586A>T (p.Ile196Phe)
c.634A>T (p.Ile212Phe)
c.631A>T (p.Ile211Phe)
c.598A>T (p.Ile200Phe)
COSMIC
3g.189864290T>ACA355753310TP63c.638T>A (p.Ile213Asn)
c.356T>A (p.Ile119Asn)
c.101T>A (p.Ile34Asn)
n.462T>A
c.587T>A (p.Ile196Asn)
c.635T>A (p.Ile212Asn)
c.632T>A (p.Ile211Asn)
c.599T>A (p.Ile200Asn)
3g.189864290T>CCA355753312TP63c.638T>C (p.Ile213Thr)
c.356T>C (p.Ile119Thr)
c.101T>C (p.Ile34Thr)
n.462T>C
c.587T>C (p.Ile196Thr)
c.635T>C (p.Ile212Thr)
c.632T>C (p.Ile211Thr)
c.599T>C (p.Ile200Thr)
3g.189864290T>GCA355753313TP63c.638T>G (p.Ile213Ser)
c.356T>G (p.Ile119Ser)
c.101T>G (p.Ile34Ser)
n.462T>G
c.587T>G (p.Ile196Ser)
c.635T>G (p.Ile212Ser)
c.632T>G (p.Ile211Ser)
c.599T>G (p.Ile200Ser)
3g.189864291C>ACA437412882TP63c.639C>A (p.Ile213=)
c.357C>A (p.Ile119=)
c.102C>A (p.Ile34=)
n.463C>A
c.588C>A (p.Ile196=)
c.636C>A (p.Ile212=)
c.633C>A (p.Ile211=)
c.600C>A (p.Ile200=)
3g.189864291C>GCA355753315TP63c.639C>G (p.Ile213Met)
c.357C>G (p.Ile119Met)
c.102C>G (p.Ile34Met)
n.463C>G
c.588C>G (p.Ile196Met)
c.636C>G (p.Ile212Met)
c.633C>G (p.Ile211Met)
c.600C>G (p.Ile200Met)
3g.189864291C>TCA437412883TP63c.639C>T (p.Ile213=)
c.357C>T (p.Ile119=)
c.102C>T (p.Ile34=)
n.463C>T
c.588C>T (p.Ile196=)
c.636C>T (p.Ile212=)
c.633C>T (p.Ile211=)
c.600C>T (p.Ile200=)
3g.189864292A>CCA355753317TP63c.640A>C (p.Lys214Gln)
c.358A>C (p.Lys120Gln)
c.103A>C (p.Lys35Gln)
n.464A>C
c.589A>C (p.Lys197Gln)
c.637A>C (p.Lys213Gln)
c.634A>C (p.Lys212Gln)
c.601A>C (p.Lys201Gln)
3g.189864292A>GCA355753320TP63c.640A>G (p.Lys214Glu)
c.358A>G (p.Lys120Glu)
c.103A>G (p.Lys35Glu)
n.464A>G
c.589A>G (p.Lys197Glu)
c.637A>G (p.Lys213Glu)
c.634A>G (p.Lys212Glu)
c.601A>G (p.Lys201Glu)
3g.189864292A>TCA355753318TP63c.640A>T (p.Lys214Ter)
c.358A>T (p.Lys120Ter)
c.103A>T (p.Lys35Ter)
n.464A>T
c.589A>T (p.Lys197Ter)
c.637A>T (p.Lys213Ter)
c.634A>T (p.Lys212Ter)
c.601A>T (p.Lys201Ter)
3g.189864293A>CCA355753321TP63c.641A>C (p.Lys214Thr)
c.359A>C (p.Lys120Thr)
c.104A>C (p.Lys35Thr)
n.465A>C
c.590A>C (p.Lys197Thr)
c.638A>C (p.Lys213Thr)
c.635A>C (p.Lys212Thr)
c.602A>C (p.Lys201Thr)
3g.189864293A>GCA355753322TP63c.641A>G (p.Lys214Arg)
c.359A>G (p.Lys120Arg)
c.104A>G (p.Lys35Arg)
n.465A>G
c.590A>G (p.Lys197Arg)
c.638A>G (p.Lys213Arg)
c.635A>G (p.Lys212Arg)
c.602A>G (p.Lys201Arg)
3g.189864293A>TCA355753324TP63c.641A>T (p.Lys214Met)
c.359A>T (p.Lys120Met)
c.104A>T (p.Lys35Met)
n.465A>T
c.590A>T (p.Lys197Met)
c.638A>T (p.Lys213Met)
c.635A>T (p.Lys212Met)
c.602A>T (p.Lys201Met)
3g.189864294G>ACA437412884TP63c.642G>A (p.Lys214=)
c.360G>A (p.Lys120=)
c.105G>A (p.Lys35=)
n.466G>A
c.591G>A (p.Lys197=)
c.639G>A (p.Lys213=)
c.636G>A (p.Lys212=)
c.603G>A (p.Lys201=)
COSMIC COSMIC COSMIC

Number of alleles fetched