Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.42173662G>ACA3805248CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*284G>A (n.*284G>A)
c.*547G>A (n.*547G>A)
c.49G>A (p.Glu17Lys)
c.37G>A (p.Glu13Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.42173662G>CCA364105230CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*284G>C (n.*284G>C)
c.*547G>C (n.*547G>C)
c.49G>C (p.Glu17Gln)
c.37G>C (p.Glu13Gln)
6g.42173662G=CA1623929239CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*284G= (n.*284G=)
c.*547G= (n.*547G=)
c.49G= (p.Glu17=)
c.37G= (p.Glu13=)
6g.42173662G>TCA3805249CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*284G>T (n.*284G>T)
c.*547G>T (n.*547G>T)
c.49G>T (p.Glu17Ter)
c.37G>T (p.Glu13Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.42173662_42173693delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGACCA1623929243CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*284_*315delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC (n.*284_*315delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC)
c.*547_*578delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC (n.*547_*578delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC)
c.49_80delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC (p.Glu17=)
c.37_68delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC (p.Glu13=)
6g.42173663A>CCA364105238CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*285A>C (n.*285A>C)
c.*548A>C (n.*548A>C)
c.50A>C (p.Glu17Ala)
c.38A>C (p.Glu13Ala)
6g.42173663A>GCA364105240CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*285A>G (n.*285A>G)
c.*548A>G (n.*548A>G)
c.50A>G (p.Glu17Gly)
c.38A>G (p.Glu13Gly)
6g.42173663A>TCA364105236CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*285A>T (n.*285A>T)
c.*548A>T (n.*548A>T)
c.50A>T (p.Glu17Val)
c.38A>T (p.Glu13Val)
6g.42173663_42173693delCA1623929245CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*285_*315del (n.*285_*315del)
c.*548_*578del (n.*548_*578del)
c.50_80del (p.Glu17ValfsTer22)
c.38_68del (p.Glu13ValfsTer22)
 dbSNP gnomAD v4
6g.42173664G>ACA450240496CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*286G>A (n.*286G>A)
c.*549G>A (n.*549G>A)
c.51G>A (p.Glu17=)
c.39G>A (p.Glu13=)
 dbSNP
6g.42173664G>CCA364105244CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*286G>C (n.*286G>C)
c.*549G>C (n.*549G>C)
c.51G>C (p.Glu17Asp)
c.39G>C (p.Glu13Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.42173664G=CA1623929248CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*286G= (n.*286G=)
c.*549G= (n.*549G=)
c.51G= (p.Glu17=)
c.39G= (p.Glu13=)
6g.42173664G>TCA364105251CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*286G>T (n.*286G>T)
c.*549G>T (n.*549G>T)
c.51G>T (p.Glu17Asp)
c.39G>T (p.Glu13Asp)
6g.42173665T>ACA364105255CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*287T>A (n.*287T>A)
c.*550T>A (n.*550T>A)
c.52T>A (p.Cys18Ser)
c.40T>A (p.Cys14Ser)
 COSMIC
6g.42173665T>CCA364105257CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*287T>C (n.*287T>C)
c.*550T>C (n.*550T>C)
c.52T>C (p.Cys18Arg)
c.40T>C (p.Cys14Arg)
6g.42173665T>GCA364105259CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*287T>G (n.*287T>G)
c.*550T>G (n.*550T>G)
c.52T>G (p.Cys18Gly)
c.40T>G (p.Cys14Gly)
6g.42173666G>ACA364105268CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*288G>A (n.*288G>A)
c.*551G>A (n.*551G>A)
c.53G>A (p.Cys18Tyr)
c.41G>A (p.Cys14Tyr)
6g.42173666G>CCA364105261CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*288G>C (n.*288G>C)
c.*551G>C (n.*551G>C)
c.53G>C (p.Cys18Ser)
c.41G>C (p.Cys14Ser)
6g.42173666G>TCA364105265CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*288G>T (n.*288G>T)
c.*551G>T (n.*551G>T)
c.53G>T (p.Cys18Phe)
c.41G>T (p.Cys14Phe)
6g.42173667C>ACA364105275CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*289C>A (n.*289C>A)
c.*552C>A (n.*552C>A)
c.54C>A (p.Cys18Ter)
c.42C>A (p.Cys14Ter)
 gnomAD v4
6g.42173667C>GCA364105277CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*289C>G (n.*289C>G)
c.*552C>G (n.*552C>G)
c.54C>G (p.Cys18Trp)
c.42C>G (p.Cys14Trp)
6g.42173667C>TCA450240497CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*289C>T (n.*289C>T)
c.*552C>T (n.*552C>T)
c.54C>T (p.Cys18=)
c.42C>T (p.Cys14=)
6g.42173668C>ACA364105281CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*290C>A (n.*290C>A)
c.*553C>A (n.*553C>A)
c.55C>A (p.His19Asn)
c.43C>A (p.His15Asn)
6g.42173668C=CA1623929249CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*290C= (n.*290C=)
c.*553C= (n.*553C=)
c.55C= (p.His19=)
c.43C= (p.His15=)
6g.42173668C>GCA364105285CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*290C>G (n.*290C>G)
c.*553C>G (n.*553C>G)
c.55C>G (p.His19Asp)
c.43C>G (p.His15Asp)
6g.42173668C>TCA364105288CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*290C>T (n.*290C>T)
c.*553C>T (n.*553C>T)
c.55C>T (p.His19Tyr)
c.43C>T (p.His15Tyr)
 dbSNP gnomAD v4
6g.42173669A=CA1623929252CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*291A= (n.*291A=)
c.*554A= (n.*554A=)
c.56A= (p.His19=)
c.44A= (p.His15=)
6g.42173669A>CCA364105298CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*291A>C (n.*291A>C)
c.*554A>C (n.*554A>C)
c.56A>C (p.His19Pro)
c.44A>C (p.His15Pro)
6g.42173669A>GCA3805250CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*291A>G (n.*291A>G)
c.*554A>G (n.*554A>G)
c.56A>G (p.His19Arg)
c.44A>G (p.His15Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173669A>TCA364105291CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*291A>T (n.*291A>T)
c.*554A>T (n.*554A>T)
c.56A>T (p.His19Leu)
c.44A>T (p.His15Leu)
6g.42173670C>ACA364105308CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*292C>A (n.*292C>A)
c.*555C>A (n.*555C>A)
c.57C>A (p.His19Gln)
c.45C>A (p.His15Gln)
6g.42173670C>GCA364105309CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*292C>G (n.*292C>G)
c.*555C>G (n.*555C>G)
c.57C>G (p.His19Gln)
c.45C>G (p.His15Gln)
 gnomAD v4
6g.42173670C>TCA450240501CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*292C>T (n.*292C>T)
c.*555C>T (n.*555C>T)
c.57C>T (p.His19=)
c.45C>T (p.His15=)
6g.42173671C>ACA364105315CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*293C>A (n.*293C>A)
c.*556C>A (n.*556C>A)
c.58C>A (p.Gln20Lys)
c.46C>A (p.Gln16Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.42173671C=CA1623929253CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*293C= (n.*293C=)
c.*556C= (n.*556C=)
c.58C= (p.Gln20=)
c.46C= (p.Gln16=)
6g.42173671C>GCA364105323CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*293C>G (n.*293C>G)
c.*556C>G (n.*556C>G)
c.58C>G (p.Gln20Glu)
c.46C>G (p.Gln16Glu)
6g.42173671C>TCA364105318CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*293C>T (n.*293C>T)
c.*556C>T (n.*556C>T)
c.58C>T (p.Gln20Ter)
c.46C>T (p.Gln16Ter)
 gnomAD v4
6g.42173672A>CCA364105325CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*294A>C (n.*294A>C)
c.*557A>C (n.*557A>C)
c.59A>C (p.Gln20Pro)
c.47A>C (p.Gln16Pro)
6g.42173672A>GCA364105327CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*294A>G (n.*294A>G)
c.*557A>G (n.*557A>G)
c.59A>G (p.Gln20Arg)
c.47A>G (p.Gln16Arg)
6g.42173672A>TCA364105330CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*294A>T (n.*294A>T)
c.*557A>T (n.*557A>T)
c.59A>T (p.Gln20Leu)
c.47A>T (p.Gln16Leu)
6g.42173673G>ACA138134999CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*295G>A (n.*295G>A)
c.*558G>A (n.*558G>A)
c.60G>A (p.Gln20=)
c.48G>A (p.Gln16=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.42173673G>CCA364105334CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*295G>C (n.*295G>C)
c.*558G>C (n.*558G>C)
c.60G>C (p.Gln20His)
c.48G>C (p.Gln16His)
6g.42173673G=CA1623929255CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*295G= (n.*295G=)
c.*558G= (n.*558G=)
c.60G= (p.Gln20=)
c.48G= (p.Gln16=)
6g.42173673G>TCA364105338CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*295G>T (n.*295G>T)
c.*558G>T (n.*558G>T)
c.60G>T (p.Gln20His)
c.48G>T (p.Gln16His)
6g.42173674T>ACA364105341CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*296T>A (n.*296T>A)
c.*559T>A (n.*559T>A)
c.61T>A (p.Trp21Arg)
c.49T>A (p.Trp17Arg)
6g.42173674T>CCA364105345CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*296T>C (n.*296T>C)
c.*559T>C (n.*559T>C)
c.61T>C (p.Trp21Arg)
c.49T>C (p.Trp17Arg)
6g.42173674T>GCA364105349CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*296T>G (n.*296T>G)
c.*559T>G (n.*559T>G)
c.61T>G (p.Trp21Gly)
c.49T>G (p.Trp17Gly)
6g.42173674_42173675insCCA2573140838CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*296_*297insC (n.*296_*297insC)
c.*559_*560insC (n.*559_*560insC)
c.61_62insC (p.Trp21SerfsTer8)
c.49_50insC (p.Trp17SerfsTer8)
 dbSNP
6g.42173675G>ACA364105352CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*297G>A (n.*297G>A)
c.*560G>A (n.*560G>A)
c.62G>A (p.Trp21Ter)
c.50G>A (p.Trp17Ter)
 gnomAD v4
6g.42173675G>CCA364105355CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*297G>C (n.*297G>C)
c.*560G>C (n.*560G>C)
c.62G>C (p.Trp21Ser)
c.50G>C (p.Trp17Ser)

Number of alleles fetched