Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.42173670_42173672delCA2770804700CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*292_*294del (n.*292_*294del)
c.*555_*557del (n.*555_*557del)
c.57_59del (p.His19del)
c.45_47del (p.His15del)
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)
6g.42173675G>TCA364105359CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*297G>T (n.*297G>T)
c.*560G>T (n.*560G>T)
c.62G>T (p.Trp21Leu)
c.50G>T (p.Trp17Leu)
6g.42173676G>ACA364105373CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*298G>A (n.*298G>A)
c.*561G>A (n.*561G>A)
c.63G>A (p.Trp21Ter)
c.51G>A (p.Trp17Ter)
6g.42173676G>CCA364105367CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*298G>C (n.*298G>C)
c.*561G>C (n.*561G>C)
c.63G>C (p.Trp21Cys)
c.51G>C (p.Trp17Cys)
6g.42173676G>TCA364105363CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*298G>T (n.*298G>T)
c.*561G>T (n.*561G>T)
c.63G>T (p.Trp21Cys)
c.51G>T (p.Trp17Cys)
6g.42173677T>ACA364105376CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*299T>A (n.*299T>A)
c.*562T>A (n.*562T>A)
c.64T>A (p.Tyr22Asn)
c.52T>A (p.Tyr18Asn)
6g.42173677T>CCA364105378CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*299T>C (n.*299T>C)
c.*562T>C (n.*562T>C)
c.64T>C (p.Tyr22His)
c.52T>C (p.Tyr18His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.42173677T>GCA364105381CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*299T>G (n.*299T>G)
c.*562T>G (n.*562T>G)
c.64T>G (p.Tyr22Asp)
c.52T>G (p.Tyr18Asp)
6g.42173677T=CA1623929258CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*299T= (n.*299T=)
c.*562T= (n.*562T=)
c.64T= (p.Tyr22=)
c.52T= (p.Tyr18=)
6g.42173678A>CCA364105390CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*300A>C (n.*300A>C)
c.*563A>C (n.*563A>C)
c.65A>C (p.Tyr22Ser)
c.53A>C (p.Tyr18Ser)
6g.42173678A>GCA364105394CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*300A>G (n.*300A>G)
c.*563A>G (n.*563A>G)
c.65A>G (p.Tyr22Cys)
c.53A>G (p.Tyr18Cys)
6g.42173678A>TCA364105397CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*300A>T (n.*300A>T)
c.*563A>T (n.*563A>T)
c.65A>T (p.Tyr22Phe)
c.53A>T (p.Tyr18Phe)
6g.42173679C>ACA364105401CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*301C>A (n.*301C>A)
c.*564C>A (n.*564C>A)
c.66C>A (p.Tyr22Ter)
c.54C>A (p.Tyr18Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.42173679C=CA1623929260CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*301C= (n.*301C=)
c.*564C= (n.*564C=)
c.66C= (p.Tyr22=)
c.54C= (p.Tyr18=)
6g.42173679C>GCA364105403CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*301C>G (n.*301C>G)
c.*564C>G (n.*564C>G)
c.66C>G (p.Tyr22Ter)
c.54C>G (p.Tyr18Ter)
6g.42173679C>TCA450240507CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*301C>T (n.*301C>T)
c.*564C>T (n.*564C>T)
c.66C>T (p.Tyr22=)
c.54C>T (p.Tyr18=)
 gnomAD v4
6g.42173680A=CA1623929262CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*302A= (n.*302A=)
c.*565A= (n.*565A=)
c.67A= (p.Lys23=)
c.55A= (p.Lys19=)
6g.42173680A>CCA364105412CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*302A>C (n.*302A>C)
c.*565A>C (n.*565A>C)
c.67A>C (p.Lys23Gln)
c.55A>C (p.Lys19Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.42173680A>GCA364105416CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*302A>G (n.*302A>G)
c.*565A>G (n.*565A>G)
c.67A>G (p.Lys23Glu)
c.55A>G (p.Lys19Glu)
6g.42173680A>TCA364105420CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*302A>T (n.*302A>T)
c.*565A>T (n.*565A>T)
c.67A>T (p.Lys23Ter)
c.55A>T (p.Lys19Ter)
6g.42173681delCA2578617214CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*303del (n.*303del)
c.*566del (n.*566del)
c.68del (p.Lys23ArgfsTer4)
c.56del (p.Lys19ArgfsTer4)
6g.42173681A>CCA364105430CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*303A>C (n.*303A>C)
c.*566A>C (n.*566A>C)
c.68A>C (p.Lys23Thr)
c.56A>C (p.Lys19Thr)
6g.42173681A>GCA364105427CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*303A>G (n.*303A>G)
c.*566A>G (n.*566A>G)
c.68A>G (p.Lys23Arg)
c.56A>G (p.Lys19Arg)
6g.42173681A>TCA364105424CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*303A>T (n.*303A>T)
c.*566A>T (n.*566A>T)
c.68A>T (p.Lys23Met)
c.56A>T (p.Lys19Met)
6g.42173682G>ACA450240508CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*304G>A (n.*304G>A)
c.*567G>A (n.*567G>A)
c.69G>A (p.Lys23=)
c.57G>A (p.Lys19=)
 dbSNP
6g.42173682G>CCA364105433CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*304G>C (n.*304G>C)
c.*567G>C (n.*567G>C)
c.69G>C (p.Lys23Asn)
c.57G>C (p.Lys19Asn)
6g.42173682G=CA1623929265CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*304G= (n.*304G=)
c.*567G= (n.*567G=)
c.69G= (p.Lys23=)
c.57G= (p.Lys19=)
6g.42173682G>TCA364105434CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*304G>T (n.*304G>T)
c.*567G>T (n.*567G>T)
c.69G>T (p.Lys23Asn)
c.57G>T (p.Lys19Asn)
6g.42173683A>CCA364105436CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*305A>C (n.*305A>C)
c.*568A>C (n.*568A>C)
c.70A>C (p.Lys24Gln)
c.58A>C (p.Lys20Gln)
6g.42173683A>GCA364105441CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*305A>G (n.*305A>G)
c.*568A>G (n.*568A>G)
c.70A>G (p.Lys24Glu)
c.58A>G (p.Lys20Glu)
6g.42173683A>TCA364105453CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*305A>T (n.*305A>T)
c.*568A>T (n.*568A>T)
c.70A>T (p.Lys24Ter)
c.58A>T (p.Lys20Ter)
6g.42173684A>CCA364105457CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*306A>C (n.*306A>C)
c.*569A>C (n.*569A>C)
c.71A>C (p.Lys24Thr)
c.59A>C (p.Lys20Thr)
6g.42173684A>GCA364105459CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*306A>G (n.*306A>G)
c.*569A>G (n.*569A>G)
c.71A>G (p.Lys24Arg)
c.59A>G (p.Lys20Arg)
6g.42173684A>TCA364105462CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*306A>T (n.*306A>T)
c.*569A>T (n.*569A>T)
c.71A>T (p.Lys24Met)
c.59A>T (p.Lys20Met)
6g.42173685G>ACA450240512CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*307G>A (n.*307G>A)
c.*570G>A (n.*570G>A)
c.72G>A (p.Lys24=)
c.60G>A (p.Lys20=)
6g.42173685G>CCA364105464CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*307G>C (n.*307G>C)
c.*570G>C (n.*570G>C)
c.72G>C (p.Lys24Asn)
c.60G>C (p.Lys20Asn)
6g.42173685G>TCA364105467CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*307G>T (n.*307G>T)
c.*570G>T (n.*570G>T)
c.72G>T (p.Lys24Asn)
c.60G>T (p.Lys20Asn)
6g.42173685_42173688delinsGTTCCA1623929268CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*307_*310delinsGTTC (n.*307_*310delinsGTTC)
c.*570_*573delinsGTTC (n.*570_*573delinsGTTC)
c.72_75delinsGTTC (p.Lys24=)
c.60_63delinsGTTC (p.Lys20=)
6g.42173686T>ACA364105470CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*308T>A (n.*308T>A)
c.*571T>A (n.*571T>A)
c.73T>A (p.Phe25Ile)
c.61T>A (p.Phe21Ile)
6g.42173686T>CCA364105472CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*308T>C (n.*308T>C)
c.*571T>C (n.*571T>C)
c.73T>C (p.Phe25Leu)
c.61T>C (p.Phe21Leu)
 gnomAD v4
6g.42173686T>GCA364105473CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*308T>G (n.*308T>G)
c.*571T>G (n.*571T>G)
c.73T>G (p.Phe25Val)
c.61T>G (p.Phe21Val)
6g.42173686_42173688delCA1139659508CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*308_*310del (n.*308_*310del)
c.*571_*573del (n.*571_*573del)
c.73_75del (p.Phe25del)
c.61_63del (p.Phe21del)
 ClinVar dbSNP
6g.42173687T>ACA364105475CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*309T>A (n.*309T>A)
c.*572T>A (n.*572T>A)
c.74T>A (p.Phe25Tyr)
c.62T>A (p.Phe21Tyr)
6g.42173687T>CCA364105479CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*309T>C (n.*309T>C)
c.*572T>C (n.*572T>C)
c.74T>C (p.Phe25Ser)
c.62T>C (p.Phe21Ser)
 dbSNP gnomAD v4
6g.42173687T>GCA364105477CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*309T>G (n.*309T>G)
c.*572T>G (n.*572T>G)
c.74T>G (p.Phe25Cys)
c.62T>G (p.Phe21Cys)
6g.42173687T=CA1623929277CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*309T= (n.*309T=)
c.*572T= (n.*572T=)
c.74T= (p.Phe25=)
c.62T= (p.Phe21=)
6g.42173688C>ACA364105481CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*310C>A (n.*310C>A)
c.*573C>A (n.*573C>A)
c.75C>A (p.Phe25Leu)
c.63C>A (p.Phe21Leu)
6g.42173688C>GCA364105484CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*310C>G (n.*310C>G)
c.*573C>G (n.*573C>G)
c.75C>G (p.Phe25Leu)
c.63C>G (p.Phe21Leu)
6g.42173688C>TCA450240516CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*310C>T (n.*310C>T)
c.*573C>T (n.*573C>T)
c.75C>T (p.Phe25=)
c.63C>T (p.Phe21=)
6g.42173689A=CA1623929281CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*311A= (n.*311A=)
c.*574A= (n.*574A=)
c.76A= (p.Met26=)
c.64A= (p.Met22=)
6g.42173689A>CCA138135003CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*311A>C (n.*311A>C)
c.*574A>C (n.*574A>C)
c.76A>C (p.Met26Leu)
c.64A>C (p.Met22Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.42173689A>GCA364105492CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*311A>G (n.*311A>G)
c.*574A>G (n.*574A>G)
c.76A>G (p.Met26Val)
c.64A>G (p.Met22Val)
 gnomAD v4
6g.42173689A>TCA364105494CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*311A>T (n.*311A>T)
c.*574A>T (n.*574A>T)
c.76A>T (p.Met26Leu)
c.64A>T (p.Met22Leu)
6g.42173690T>ACA364105496CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*312T>A (n.*312T>A)
c.*575T>A (n.*575T>A)
c.77T>A (p.Met26Lys)
c.65T>A (p.Met22Lys)
 gnomAD v4
6g.42173690T>CCA364105499CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*312T>C (n.*312T>C)
c.*575T>C (n.*575T>C)
c.77T>C (p.Met26Thr)
c.65T>C (p.Met22Thr)
 gnomAD v4
6g.42173690T>GCA364105511CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*312T>G (n.*312T>G)
c.*575T>G (n.*575T>G)
c.77T>G (p.Met26Arg)
c.65T>G (p.Met22Arg)
6g.42173691G>ACA364105515CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*313G>A (n.*313G>A)
c.*576G>A (n.*576G>A)
c.78G>A (p.Met26Ile)
c.66G>A (p.Met22Ile)
 COSMIC
6g.42173691G>CCA364105518CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*313G>C (n.*313G>C)
c.*576G>C (n.*576G>C)
c.78G>C (p.Met26Ile)
c.66G>C (p.Met22Ile)
6g.42173691G>TCA364105522CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*313G>T (n.*313G>T)
c.*576G>T (n.*576G>T)
c.78G>T (p.Met26Ile)
c.66G>T (p.Met22Ile)
6g.42173692A>CCA364105529CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*314A>C (n.*314A>C)
c.*577A>C (n.*577A>C)
c.79A>C (p.Thr27Pro)
c.67A>C (p.Thr23Pro)
6g.42173692A>GCA364105540CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*314A>G (n.*314A>G)
c.*577A>G (n.*577A>G)
c.79A>G (p.Thr27Ala)
c.67A>G (p.Thr23Ala)
6g.42173692A>TCA364105525CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*314A>T (n.*314A>T)
c.*577A>T (n.*577A>T)
c.79A>T (p.Thr27Ser)
c.67A>T (p.Thr23Ser)
6g.42173693C>ACA364105545CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*315C>A (n.*315C>A)
c.*578C>A (n.*578C>A)
c.80C>A (p.Thr27Asn)
c.68C>A (p.Thr23Asn)
6g.42173693C=CA1623929287CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*315C= (n.*315C=)
c.*578C= (n.*578C=)
c.80C= (p.Thr27=)
c.68C= (p.Thr23=)
6g.42173693C>GCA364105542CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*315C>G (n.*315C>G)
c.*578C>G (n.*578C>G)
c.80C>G (p.Thr27Ser)
c.68C>G (p.Thr23Ser)
6g.42173693C>TCA3805251CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*315C>T (n.*315C>T)
c.*578C>T (n.*578C>T)
c.80C>T (p.Thr27Ile)
c.68C>T (p.Thr23Ile)
 dbSNP ExAC gnomAD v2 COSMIC
6g.42173694T>ACA450240519CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*316T>A (n.*316T>A)
c.*579T>A (n.*579T>A)
c.81T>A (p.Thr27=)
c.69T>A (p.Thr23=)
6g.42173694T>CCA450240520CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*316T>C (n.*316T>C)
c.*579T>C (n.*579T>C)
c.81T>C (p.Thr27=)
c.69T>C (p.Thr23=)
 dbSNP gnomAD v3 gnomAD v4
6g.42173694T>GCA450240521CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*316T>G (n.*316T>G)
c.*579T>G (n.*579T>G)
c.81T>G (p.Thr27=)
c.69T>G (p.Thr23=)
6g.42173694T=CA1623929291CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*316T= (n.*316T=)
c.*579T= (n.*579T=)
c.81T= (p.Thr27=)
c.69T= (p.Thr23=)
6g.42173695G>ACA3805253CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*317G>A (n.*317G>A)
c.*580G>A (n.*580G>A)
c.82G>A (p.Glu28Lys)
c.70G>A (p.Glu24Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173695G>CCA364105551CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*317G>C (n.*317G>C)
c.*580G>C (n.*580G>C)
c.82G>C (p.Glu28Gln)
c.70G>C (p.Glu24Gln)
6g.42173695G=CA1623929294CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*317G= (n.*317G=)
c.*580G= (n.*580G=)
c.82G= (p.Glu28=)
c.70G= (p.Glu24=)
6g.42173695G>TCA3805252CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*317G>T (n.*317G>T)
c.*580G>T (n.*580G>T)
c.82G>T (p.Glu28Ter)
c.70G>T (p.Glu24Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173696A=CA1623929298CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*318A= (n.*318A=)
c.*581A= (n.*581A=)
c.83A= (p.Glu28=)
c.71A= (p.Glu24=)
6g.42173696A>CCA364105555CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*318A>C (n.*318A>C)
c.*581A>C (n.*581A>C)
c.83A>C (p.Glu28Ala)
c.71A>C (p.Glu24Ala)
 dbSNP gnomAD v2 gnomAD v4
6g.42173696A>GCA3805254CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*318A>G (n.*318A>G)
c.*581A>G (n.*581A>G)
c.83A>G (p.Glu28Gly)
c.71A>G (p.Glu24Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173696A>TCA364105567CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*318A>T (n.*318A>T)
c.*581A>T (n.*581A>T)
c.83A>T (p.Glu28Val)
c.71A>T (p.Glu24Val)
6g.42173697G>ACA450240525CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*319G>A (n.*319G>A)
c.*582G>A (n.*582G>A)
c.84G>A (p.Glu28=)
c.72G>A (p.Glu24=)
 gnomAD v4
6g.42173697G>CCA364105570CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*319G>C (n.*319G>C)
c.*582G>C (n.*582G>C)
c.84G>C (p.Glu28Asp)
c.72G>C (p.Glu24Asp)
6g.42173697G>TCA364105572CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*319G>T (n.*319G>T)
c.*582G>T (n.*582G>T)
c.84G>T (p.Glu28Asp)
c.72G>T (p.Glu24Asp)
6g.42173698T>ACA3805256CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*320T>A (n.*320T>A)
c.*583T>A (n.*583T>A)
c.85T>A (p.Cys29Ser)
c.73T>A (p.Cys25Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173698T>CCA3805255CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*320T>C (n.*320T>C)
c.*583T>C (n.*583T>C)
c.85T>C (p.Cys29Arg)
c.73T>C (p.Cys25Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173698T>GCA364105579CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*320T>G (n.*320T>G)
c.*583T>G (n.*583T>G)
c.85T>G (p.Cys29Gly)
c.73T>G (p.Cys25Gly)
6g.42173698T=CA1623929301CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*320T= (n.*320T=)
c.*583T= (n.*583T=)
c.85T= (p.Cys29=)
c.73T= (p.Cys25=)
6g.42173699G>ACA364105585CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*321G>A (n.*321G>A)
c.*584G>A (n.*584G>A)
c.86G>A (p.Cys29Tyr)
c.74G>A (p.Cys25Tyr)
 ClinVar dbSNP gnomAD v4
6g.42173699G>CCA364105581CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*321G>C (n.*321G>C)
c.*584G>C (n.*584G>C)
c.86G>C (p.Cys29Ser)
c.74G>C (p.Cys25Ser)
6g.42173699G=CA1623929306CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*321G= (n.*321G=)
c.*584G= (n.*584G=)
c.86G= (p.Cys29=)
c.74G= (p.Cys25=)
6g.42173699G>TCA364105584CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*321G>T (n.*321G>T)
c.*584G>T (n.*584G>T)
c.86G>T (p.Cys29Phe)
c.74G>T (p.Cys25Phe)
6g.42173700C>ACA364105586CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*322C>A (n.*322C>A)
c.*585C>A (n.*585C>A)
c.87C>A (p.Cys29Ter)
c.75C>A (p.Cys25Ter)
6g.42173700C=CA1623929313CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*322C= (n.*322C=)
c.*585C= (n.*585C=)
c.87C= (p.Cys29=)
c.75C= (p.Cys25=)
6g.42173700C>GCA364105587CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*322C>G (n.*322C>G)
c.*585C>G (n.*585C>G)
c.87C>G (p.Cys29Trp)
c.75C>G (p.Cys25Trp)
6g.42173700C>TCA3805257CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*322C>T (n.*322C>T)
c.*585C>T (n.*585C>T)
c.87C>T (p.Cys29=)
c.75C>T (p.Cys25=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173703delCA2580074508CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*325del (n.*325del)
c.*588del (n.*588del)
c.90del (p.Ser31LeufsTer18)
c.78del (p.Ser27LeufsTer18)
 ClinVar gnomAD v4
6g.42173701C>ACA364105589CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*323C>A (n.*323C>A)
c.*586C>A (n.*586C>A)
c.88C>A (p.Pro30Thr)
c.76C>A (p.Pro26Thr)
6g.42173701C=CA1623929317CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*323C= (n.*323C=)
c.*586C= (n.*586C=)
c.88C= (p.Pro30=)
c.76C= (p.Pro26=)
6g.42173701C>GCA364105590CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*323C>G (n.*323C>G)
c.*586C>G (n.*586C>G)
c.88C>G (p.Pro30Ala)
c.76C>G (p.Pro26Ala)
6g.42173701C>TCA3805258CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*323C>T (n.*323C>T)
c.*586C>T (n.*586C>T)
c.88C>T (p.Pro30Ser)
c.76C>T (p.Pro26Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173702C>ACA364105596CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*324C>A (n.*324C>A)
c.*587C>A (n.*587C>A)
c.89C>A (p.Pro30His)
c.77C>A (p.Pro26His)
6g.42173702C>GCA364105597CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*324C>G (n.*324C>G)
c.*587C>G (n.*587C>G)
c.89C>G (p.Pro30Arg)
c.77C>G (p.Pro26Arg)
6g.42173702C>TCA364105600CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*324C>T (n.*324C>T)
c.*587C>T (n.*587C>T)
c.89C>T (p.Pro30Leu)
c.77C>T (p.Pro26Leu)
6g.42173703C>ACA450240536CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*325C>A (n.*325C>A)
c.*588C>A (n.*588C>A)
c.90C>A (p.Pro30=)
c.78C>A (p.Pro26=)
6g.42173703C>GCA450240537CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*325C>G (n.*325C>G)
c.*588C>G (n.*588C>G)
c.90C>G (p.Pro30=)
c.78C>G (p.Pro26=)
6g.42173703C>TCA450240538CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*325C>T (n.*325C>T)
c.*588C>T (n.*588C>T)
c.90C>T (p.Pro30=)
c.78C>T (p.Pro26=)
6g.42173704T>ACA364105603CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*326T>A (n.*326T>A)
c.*589T>A (n.*589T>A)
c.91T>A (p.Ser31Thr)
c.79T>A (p.Ser27Thr)
6g.42173704T>CCA364105606CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*326T>C (n.*326T>C)
c.*589T>C (n.*589T>C)
c.91T>C (p.Ser31Pro)
c.79T>C (p.Ser27Pro)
6g.42173704T>GCA364105608CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*326T>G (n.*326T>G)
c.*589T>G (n.*589T>G)
c.91T>G (p.Ser31Ala)
c.79T>G (p.Ser27Ala)
6g.42173705C>ACA364105616CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*327C>A (n.*327C>A)
c.*590C>A (n.*590C>A)
c.92C>A (p.Ser31Tyr)
c.80C>A (p.Ser27Tyr)
6g.42173705C>GCA364105614CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*327C>G (n.*327C>G)
c.*590C>G (n.*590C>G)
c.92C>G (p.Ser31Cys)
c.80C>G (p.Ser27Cys)
 gnomAD v4
6g.42173705C>TCA364105612CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*327C>T (n.*327C>T)
c.*590C>T (n.*590C>T)
c.92C>T (p.Ser31Phe)
c.80C>T (p.Ser27Phe)
6g.42173705dupCA2770804701CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*327dup (n.*327dup)
c.*590dup (n.*590dup)
c.92dup (p.Gly32TrpfsTer7)
c.80dup (p.Gly28TrpfsTer7)
6g.42173706T>ACA450240540CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*328T>A (n.*328T>A)
c.*591T>A (n.*591T>A)
c.93T>A (p.Ser31=)
c.81T>A (p.Ser27=)
6g.42173706T>CCA3805259CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*328T>C (n.*328T>C)
c.*591T>C (n.*591T>C)
c.93T>C (p.Ser31=)
c.81T>C (p.Ser27=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173706T>GCA3805260CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*328T>G (n.*328T>G)
c.*591T>G (n.*591T>G)
c.93T>G (p.Ser31=)
c.81T>G (p.Ser27=)
 dbSNP ExAC gnomAD v2
6g.42173706T=CA1623929320CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*328T= (n.*328T=)
c.*591T= (n.*591T=)
c.93T= (p.Ser31=)
c.81T= (p.Ser27=)
6g.42173707G>ACA138135040CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*329G>A (n.*329G>A)
c.*592G>A (n.*592G>A)
c.94G>A (p.Gly32Ser)
c.82G>A (p.Gly28Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.42173707G>CCA364105623CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*329G>C (n.*329G>C)
c.*592G>C (n.*592G>C)
c.94G>C (p.Gly32Arg)
c.82G>C (p.Gly28Arg)
6g.42173707G=CA1623929326CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*329G= (n.*329G=)
c.*592G= (n.*592G=)
c.94G= (p.Gly32=)
c.82G= (p.Gly28=)
6g.42173707G>TCA364105626CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*329G>T (n.*329G>T)
c.*592G>T (n.*592G>T)
c.94G>T (p.Gly32Cys)
c.82G>T (p.Gly28Cys)
6g.42173708G>ACA364105641CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*330G>A (n.*330G>A)
c.*593G>A (n.*593G>A)
c.95G>A (p.Gly32Asp)
c.83G>A (p.Gly28Asp)
6g.42173708G>CCA364105633CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*330G>C (n.*330G>C)
c.*593G>C (n.*593G>C)
c.95G>C (p.Gly32Ala)
c.83G>C (p.Gly28Ala)
6g.42173708G>TCA364105630CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*330G>T (n.*330G>T)
c.*593G>T (n.*593G>T)
c.95G>T (p.Gly32Val)
c.83G>T (p.Gly28Val)
6g.42173709C>ACA450240544CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*331C>A (n.*331C>A)
c.*594C>A (n.*594C>A)
c.96C>A (p.Gly32=)
c.84C>A (p.Gly28=)
6g.42173709C>GCA450240545CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*331C>G (n.*331C>G)
c.*594C>G (n.*594C>G)
c.96C>G (p.Gly32=)
c.84C>G (p.Gly28=)
6g.42173709C>TCA450240546CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*331C>T (n.*331C>T)
c.*594C>T (n.*594C>T)
c.96C>T (p.Gly32=)
c.84C>T (p.Gly28=)
6g.42173710C>ACA364105643CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*332C>A (n.*332C>A)
c.*595C>A (n.*595C>A)
c.97C>A (p.Gln33Lys)
c.85C>A (p.Gln29Lys)
6g.42173710C>GCA364105645CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*332C>G (n.*332C>G)
c.*595C>G (n.*595C>G)
c.97C>G (p.Gln33Glu)
c.85C>G (p.Gln29Glu)
6g.42173710C>TCA364105647CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*332C>T (n.*332C>T)
c.*595C>T (n.*595C>T)
c.97C>T (p.Gln33Ter)
c.85C>T (p.Gln29Ter)
 gnomAD v4
6g.42173711A>CCA364105648CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*333A>C (n.*333A>C)
c.*596A>C (n.*596A>C)
c.98A>C (p.Gln33Pro)
c.86A>C (p.Gln29Pro)
6g.42173711A>GCA364105649CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*333A>G (n.*333A>G)
c.*596A>G (n.*596A>G)
c.98A>G (p.Gln33Arg)
c.86A>G (p.Gln29Arg)
6g.42173711A>TCA364105650CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*333A>T (n.*333A>T)
c.*596A>T (n.*596A>T)
c.98A>T (p.Gln33Leu)
c.86A>T (p.Gln29Leu)
6g.42173712A=CA1623929330CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*334A= (n.*334A=)
c.*597A= (n.*597A=)
c.99A= (p.Gln33=)
c.87A= (p.Gln29=)
6g.42173712A>CCA364105651CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*334A>C (n.*334A>C)
c.*597A>C (n.*597A>C)
c.99A>C (p.Gln33His)
c.87A>C (p.Gln29His)
 gnomAD v4
6g.42173712A>GCA3805261CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*334A>G (n.*334A>G)
c.*597A>G (n.*597A>G)
c.99A>G (p.Gln33=)
c.87A>G (p.Gln29=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173712A>TCA364105653CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*334A>T (n.*334A>T)
c.*597A>T (n.*597A>T)
c.99A>T (p.Gln33His)
c.87A>T (p.Gln29His)
6g.42173712_42173714delinsACTCA1623929332CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*334_*336delinsACT (n.*334_*336delinsACT)
c.*597_*599delinsACT (n.*597_*599delinsACT)
c.99_101delinsACT (p.Gln33=)
c.87_89delinsACT (p.Gln29=)
6g.42173713C>ACA364105657CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*335C>A (n.*335C>A)
c.*598C>A (n.*598C>A)
c.100C>A (p.Leu34Ile)
c.88C>A (p.Leu30Ile)
6g.42173713C=CA1623929335CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*335C= (n.*335C=)
c.*598C= (n.*598C=)
c.100C= (p.Leu34=)
c.88C= (p.Leu30=)
6g.42173713C>GCA364105659CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*335C>G (n.*335C>G)
c.*598C>G (n.*598C>G)
c.100C>G (p.Leu34Val)
c.88C>G (p.Leu30Val)
6g.42173713C>TCA3805262CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*335C>T (n.*335C>T)
c.*598C>T (n.*598C>T)
c.100C>T (p.Leu34Phe)
c.88C>T (p.Leu30Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173714_42173715delCA567149277CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*336_*337del (n.*336_*337del)
c.*599_*600del (n.*599_*600del)
c.101_102del (p.Leu34HisfsTer4)
c.89_90del (p.Leu30HisfsTer4)
 dbSNP gnomAD v2 gnomAD v4
6g.42173714T>ACA364105662CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*336T>A (n.*336T>A)
c.*599T>A (n.*599T>A)
c.101T>A (p.Leu34His)
c.89T>A (p.Leu30His)
6g.42173714T>CCA364105665CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*336T>C (n.*336T>C)
c.*599T>C (n.*599T>C)
c.101T>C (p.Leu34Pro)
c.89T>C (p.Leu30Pro)
6g.42173714T>GCA364105668CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*336T>G (n.*336T>G)
c.*599T>G (n.*599T>G)
c.101T>G (p.Leu34Arg)
c.89T>G (p.Leu30Arg)
6g.42173715C>ACA450240551CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*337C>A (n.*337C>A)
c.*600C>A (n.*600C>A)
c.102C>A (p.Leu34=)
c.90C>A (p.Leu30=)
6g.42173715C>GCA450240552CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*337C>G (n.*337C>G)
c.*600C>G (n.*600C>G)
c.102C>G (p.Leu34=)
c.90C>G (p.Leu30=)
6g.42173715C>TCA450240553CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*337C>T (n.*337C>T)
c.*600C>T (n.*600C>T)
c.102C>T (p.Leu34=)
c.90C>T (p.Leu30=)
6g.42173716A>CCA364105672CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*338A>C (n.*338A>C)
c.*601A>C (n.*601A>C)
c.103A>C (p.Thr35Pro)
c.91A>C (p.Thr31Pro)
 gnomAD v4
6g.42173716A>GCA364105673CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*338A>G (n.*338A>G)
c.*601A>G (n.*601A>G)
c.103A>G (p.Thr35Ala)
c.91A>G (p.Thr31Ala)
6g.42173716A>TCA364105675CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*338A>T (n.*338A>T)
c.*601A>T (n.*601A>T)
c.103A>T (p.Thr35Ser)
c.91A>T (p.Thr31Ser)
6g.42173717C>ACA364105678CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*339C>A (n.*339C>A)
c.*602C>A (n.*602C>A)
c.104C>A (p.Thr35Asn)
c.92C>A (p.Thr31Asn)
 gnomAD v4
6g.42173717C>GCA364105680CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*339C>G (n.*339C>G)
c.*602C>G (n.*602C>G)
c.104C>G (p.Thr35Ser)
c.92C>G (p.Thr31Ser)
6g.42173717C>TCA364105681CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*339C>T (n.*339C>T)
c.*602C>T (n.*602C>T)
c.104C>T (p.Thr35Ile)
c.92C>T (p.Thr31Ile)
 gnomAD v4
6g.42173718C>ACA450240556CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*340C>A (n.*340C>A)
c.*603C>A (n.*603C>A)
c.105C>A (p.Thr35=)
c.93C>A (p.Thr31=)
6g.42173718C=CA1623929339CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*340C= (n.*340C=)
c.*603C= (n.*603C=)
c.105C= (p.Thr35=)
c.93C= (p.Thr31=)
6g.42173718C>GCA450240558CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*340C>G (n.*340C>G)
c.*603C>G (n.*603C>G)
c.105C>G (p.Thr35=)
c.93C>G (p.Thr31=)
6g.42173718C>TCA450240560CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*340C>T (n.*340C>T)
c.*603C>T (n.*603C>T)
c.105C>T (p.Thr35=)
c.93C>T (p.Thr31=)
 dbSNP gnomAD v4
6g.42173719C>ACA364105685CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*341C>A (n.*341C>A)
c.*604C>A (n.*604C>A)
c.106C>A (p.Leu36Ile)
c.94C>A (p.Leu32Ile)
6g.42173719C>GCA364105683CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*341C>G (n.*341C>G)
c.*604C>G (n.*604C>G)
c.106C>G (p.Leu36Val)
c.94C>G (p.Leu32Val)
6g.42173719C>TCA364105682CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*341C>T (n.*341C>T)
c.*604C>T (n.*604C>T)
c.106C>T (p.Leu36Phe)
c.94C>T (p.Leu32Phe)
6g.42173720T>ACA364105691CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*342T>A (n.*342T>A)
c.*605T>A (n.*605T>A)
c.107T>A (p.Leu36His)
c.95T>A (p.Leu32His)
6g.42173720T>CCA364105688CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*342T>C (n.*342T>C)
c.*605T>C (n.*605T>C)
c.107T>C (p.Leu36Pro)
c.95T>C (p.Leu32Pro)
 dbSNP gnomAD v2 gnomAD v4
6g.42173720T>GCA364105693CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*342T>G (n.*342T>G)
c.*605T>G (n.*605T>G)
c.107T>G (p.Leu36Arg)
c.95T>G (p.Leu32Arg)
6g.42173720T=CA1623929342CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*342T= (n.*342T=)
c.*605T= (n.*605T=)
c.107T= (p.Leu36=)
c.95T= (p.Leu32=)
6g.42173721C>ACA450240562CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*343C>A (n.*343C>A)
c.*606C>A (n.*606C>A)
c.108C>A (p.Leu36=)
c.96C>A (p.Leu32=)
6g.42173721C>GCA450240563CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*343C>G (n.*343C>G)
c.*606C>G (n.*606C>G)
c.108C>G (p.Leu36=)
c.96C>G (p.Leu32=)
6g.42173721C>TCA450240564CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*343C>T (n.*343C>T)
c.*606C>T (n.*606C>T)
c.108C>T (p.Leu36=)
c.96C>T (p.Leu32=)
6g.42173722T>ACA364105696CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*344T>A (n.*344T>A)
c.*607T>A (n.*607T>A)
c.109T>A (p.Tyr37Asn)
c.97T>A (p.Tyr33Asn)
6g.42173722T>CCA364105699CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*344T>C (n.*344T>C)
c.*607T>C (n.*607T>C)
c.109T>C (p.Tyr37His)
c.97T>C (p.Tyr33His)
 dbSNP gnomAD v2 gnomAD v4
6g.42173722T>GCA364105698CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*344T>G (n.*344T>G)
c.*607T>G (n.*607T>G)
c.109T>G (p.Tyr37Asp)
c.97T>G (p.Tyr33Asp)
6g.42173722T=CA1623929347CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*344T= (n.*344T=)
c.*607T= (n.*607T=)
c.109T= (p.Tyr37=)
c.97T= (p.Tyr33=)
6g.42173723A=CA1623929352CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*345A= (n.*345A=)
c.*608A= (n.*608A=)
c.110A= (p.Tyr37=)
c.98A= (p.Tyr33=)
6g.42173723A>CCA364105706CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*345A>C (n.*345A>C)
c.*608A>C (n.*608A>C)
c.110A>C (p.Tyr37Ser)
c.98A>C (p.Tyr33Ser)
6g.42173723A>GCA3805263CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*345A>G (n.*345A>G)
c.*608A>G (n.*608A>G)
c.110A>G (p.Tyr37Cys)
c.98A>G (p.Tyr33Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173723A>TCA3805264CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*345A>T (n.*345A>T)
c.*608A>T (n.*608A>T)
c.110A>T (p.Tyr37Phe)
c.98A>T (p.Tyr33Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173724T>ACA364105710CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*346T>A (n.*346T>A)
c.*609T>A (n.*609T>A)
c.111T>A (p.Tyr37Ter)
c.99T>A (p.Tyr33Ter)
6g.42173724T>CCA450240569CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*346T>C (n.*346T>C)
c.*609T>C (n.*609T>C)
c.111T>C (p.Tyr37=)
c.99T>C (p.Tyr33=)
 gnomAD v4
6g.42173724T>GCA364105712CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*346T>G (n.*346T>G)
c.*609T>G (n.*609T>G)
c.111T>G (p.Tyr37Ter)
c.99T>G (p.Tyr33Ter)
6g.42173725G>ACA364105716CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*347G>A (n.*347G>A)
c.*610G>A (n.*610G>A)
c.112G>A (p.Glu38Lys)
c.100G>A (p.Glu34Lys)
 dbSNP
6g.42173725G>CCA364105720CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*347G>C (n.*347G>C)
c.*610G>C (n.*610G>C)
c.112G>C (p.Glu38Gln)
c.100G>C (p.Glu34Gln)
6g.42173725G=CA1623929357CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*347G= (n.*347G=)
c.*610G= (n.*610G=)
c.112G= (p.Glu38=)
c.100G= (p.Glu34=)
6g.42173725G>TCA364105719CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*347G>T (n.*347G>T)
c.*610G>T (n.*610G>T)
c.112G>T (p.Glu38Ter)
c.100G>T (p.Glu34Ter)
 COSMIC
6g.42173726A>CCA364105725CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*348A>C (n.*348A>C)
c.*611A>C (n.*611A>C)
c.113A>C (p.Glu38Ala)
c.101A>C (p.Glu34Ala)
6g.42173726A>GCA364105727CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*348A>G (n.*348A>G)
c.*611A>G (n.*611A>G)
c.113A>G (p.Glu38Gly)
c.101A>G (p.Glu34Gly)
6g.42173726A>TCA364105730CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*348A>T (n.*348A>T)
c.*611A>T (n.*611A>T)
c.113A>T (p.Glu38Val)
c.101A>T (p.Glu34Val)
6g.42173727G>ACA450240570CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*349G>A (n.*349G>A)
c.*612G>A (n.*612G>A)
c.114G>A (p.Glu38=)
c.102G>A (p.Glu34=)
 dbSNP gnomAD v4
6g.42173727G>CCA364105732CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*349G>C (n.*349G>C)
c.*612G>C (n.*612G>C)
c.114G>C (p.Glu38Asp)
c.102G>C (p.Glu34Asp)
6g.42173727G=CA1623929361CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*349G= (n.*349G=)
c.*612G= (n.*612G=)
c.114G= (p.Glu38=)
c.102G= (p.Glu34=)
6g.42173727G>TCA364105735CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*349G>T (n.*349G>T)
c.*612G>T (n.*612G>T)
c.114G>T (p.Glu38Asp)
c.102G>T (p.Glu34Asp)
6g.42173728T>ACA364105739CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*350T>A (n.*350T>A)
c.*613T>A (n.*613T>A)
c.115T>A (p.Phe39Ile)
c.103T>A (p.Phe35Ile)
6g.42173728T>CCA364105741CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*350T>C (n.*350T>C)
c.*613T>C (n.*613T>C)
c.115T>C (p.Phe39Leu)
c.103T>C (p.Phe35Leu)
6g.42173728T>GCA364105743CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*350T>G (n.*350T>G)
c.*613T>G (n.*613T>G)
c.115T>G (p.Phe39Val)
c.103T>G (p.Phe35Val)
6g.42173729T>ACA364105748CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*351T>A (n.*351T>A)
c.*614T>A (n.*614T>A)
c.116T>A (p.Phe39Tyr)
c.104T>A (p.Phe35Tyr)
6g.42173729T>CCA364105749CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*351T>C (n.*351T>C)
c.*614T>C (n.*614T>C)
c.116T>C (p.Phe39Ser)
c.104T>C (p.Phe35Ser)
6g.42173729T>GCA364105753CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*351T>G (n.*351T>G)
c.*614T>G (n.*614T>G)
c.116T>G (p.Phe39Cys)
c.104T>G (p.Phe35Cys)
6g.42173730C>ACA364105759CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*352C>A (n.*352C>A)
c.*615C>A (n.*615C>A)
c.117C>A (p.Phe39Leu)
c.105C>A (p.Phe35Leu)
6g.42173730C=CA1623929364CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*352C= (n.*352C=)
c.*615C= (n.*615C=)
c.117C= (p.Phe39=)
c.105C= (p.Phe35=)
6g.42173730C>GCA364105757CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*352C>G (n.*352C>G)
c.*615C>G (n.*615C>G)
c.117C>G (p.Phe39Leu)
c.105C>G (p.Phe35Leu)
 dbSNP
6g.42173730C>TCA450240574CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*352C>T (n.*352C>T)
c.*615C>T (n.*615C>T)
c.117C>T (p.Phe39=)
c.105C>T (p.Phe35=)
 gnomAD v4
6g.42173731delCA2678750615CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*353del (n.*353del)
c.*616del (n.*616del)
c.118del (p.Arg40AlafsTer9)
c.106del (p.Arg36AlafsTer9)
 gnomAD v4
6g.42173731C>ACA364105761CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*353C>A (n.*353C>A)
c.*616C>A (n.*616C>A)
c.118C>A (p.Arg40Ser)
c.106C>A (p.Arg36Ser)
6g.42173731C=CA1623929368CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*353C= (n.*353C=)
c.*616C= (n.*616C=)
c.118C= (p.Arg40=)
c.106C= (p.Arg36=)
6g.42173731C>GCA364105762CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*353C>G (n.*353C>G)
c.*616C>G (n.*616C>G)
c.118C>G (p.Arg40Gly)
c.106C>G (p.Arg36Gly)
6g.42173731C>TCA3805265CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*353C>T (n.*353C>T)
c.*616C>T (n.*616C>T)
c.118C>T (p.Arg40Cys)
c.106C>T (p.Arg36Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173731_42173743delinsCGCCAGTTCTTCGCA1623929369CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*353_*365delinsCGCCAGTTCTTCG (n.*353_*365delinsCGCCAGTTCTTCG)
c.*616_*628delinsCGCCAGTTCTTCG (n.*616_*628delinsCGCCAGTTCTTCG)
c.118_130delinsCGCCAGTTCTTCG (p.Arg40=)
c.106_118delinsCGCCAGTTCTTCG (p.Arg36=)
6g.42173732G>ACA3805267CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*354G>A (n.*354G>A)
c.*617G>A (n.*617G>A)
c.119G>A (p.Arg40His)
c.107G>A (p.Arg36His)
c.-164G>A (n.-164G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173732G>CCA364105767CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*354G>C (n.*354G>C)
c.*617G>C (n.*617G>C)
c.119G>C (p.Arg40Pro)
c.107G>C (p.Arg36Pro)
c.-164G>C (n.-164G>C)
 ClinVar gnomAD v4
6g.42173732G=CA1623929375CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*354G= (n.*354G=)
c.*617G= (n.*617G=)
c.119G= (p.Arg40=)
c.107G= (p.Arg36=)
c.-164G= (n.-164G=)
6g.42173732G>TCA3805266CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*354G>T (n.*354G>T)
c.*617G>T (n.*617G>T)
c.119G>T (p.Arg40Leu)
c.107G>T (p.Arg36Leu)
c.-164G>T (n.-164G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.42173735_42173746delCA1623929374CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*357_*368del (n.*357_*368del)
c.*620_*631del (n.*620_*631del)
c.122_133del (p.Gln41_Gly44del)
c.110_121del (p.Gln37_Gly40del)
c.-161_-150del (n.-161_-150del)
 dbSNP
6g.42173733C>ACA450240579CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*355C>A (n.*355C>A)
c.*618C>A (n.*618C>A)
c.120C>A (p.Arg40=)
c.108C>A (p.Arg36=)
c.-163C>A (n.-163C>A)
6g.42173733C>GCA450240580CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*355C>G (n.*355C>G)
c.*618C>G (n.*618C>G)
c.120C>G (p.Arg40=)
c.108C>G (p.Arg36=)
c.-163C>G (n.-163C>G)
6g.42173733C>TCA450240577CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*355C>T (n.*355C>T)
c.*618C>T (n.*618C>T)
c.120C>T (p.Arg40=)
c.108C>T (p.Arg36=)
c.-163C>T (n.-163C>T)
6g.42173734C>ACA364105771CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*356C>A (n.*356C>A)
c.*619C>A (n.*619C>A)
c.121C>A (p.Gln41Lys)
c.109C>A (p.Gln37Lys)
c.-162C>A (n.-162C>A)
6g.42173734C=CA1623929382CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*356C= (n.*356C=)
c.*619C= (n.*619C=)
c.121C= (p.Gln41=)
c.109C= (p.Gln37=)
c.-162C= (n.-162C=)
6g.42173734C>GCA364105773CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*356C>G (n.*356C>G)
c.*619C>G (n.*619C>G)
c.121C>G (p.Gln41Glu)
c.109C>G (p.Gln37Glu)
c.-162C>G (n.-162C>G)
6g.42173734C>TCA364105776CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*356C>T (n.*356C>T)
c.*619C>T (n.*619C>T)
c.121C>T (p.Gln41Ter)
c.109C>T (p.Gln37Ter)
c.-162C>T (n.-162C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.42173735A>CCA364105779CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*357A>C (n.*357A>C)
c.*620A>C (n.*620A>C)
c.122A>C (p.Gln41Pro)
c.110A>C (p.Gln37Pro)
c.-161A>C (n.-161A>C)
6g.42173735A>GCA364105782CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*357A>G (n.*357A>G)
c.*620A>G (n.*620A>G)
c.122A>G (p.Gln41Arg)
c.110A>G (p.Gln37Arg)
c.-161A>G (n.-161A>G)
6g.42173735A>TCA364105785CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*357A>T (n.*357A>T)
c.*620A>T (n.*620A>T)
c.122A>T (p.Gln41Leu)
c.110A>T (p.Gln37Leu)
c.-161A>T (n.-161A>T)
6g.42173736G>ACA450240584CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*358G>A (n.*358G>A)
c.*621G>A (n.*621G>A)
c.123G>A (p.Gln41=)
c.111G>A (p.Gln37=)
c.-160G>A (n.-160G>A)
6g.42173736G>CCA364105787CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*358G>C (n.*358G>C)
c.*621G>C (n.*621G>C)
c.123G>C (p.Gln41His)
c.111G>C (p.Gln37His)
c.-160G>C (n.-160G>C)
 ClinVar dbSNP
6g.42173736G>TCA364105789CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*358G>T (n.*358G>T)
c.*621G>T (n.*621G>T)
c.123G>T (p.Gln41His)
c.111G>T (p.Gln37His)
c.-160G>T (n.-160G>T)
6g.42173737T>ACA3805268CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*359T>A (n.*359T>A)
c.*622T>A (n.*622T>A)
c.124T>A (p.Phe42Ile)
c.112T>A (p.Phe38Ile)
c.-159T>A (n.-159T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173737T>CCA364105794CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*359T>C (n.*359T>C)
c.*622T>C (n.*622T>C)
c.124T>C (p.Phe42Leu)
c.112T>C (p.Phe38Leu)
c.-159T>C (n.-159T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.42173737T>GCA364105802CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*359T>G (n.*359T>G)
c.*622T>G (n.*622T>G)
c.124T>G (p.Phe42Val)
c.112T>G (p.Phe38Val)
c.-159T>G (n.-159T>G)
6g.42173737T=CA1623929387CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*359T= (n.*359T=)
c.*622T= (n.*622T=)
c.124T= (p.Phe42=)
c.112T= (p.Phe38=)
c.-159T= (n.-159T=)
6g.42173738T>ACA3805269CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*360T>A (n.*360T>A)
c.*623T>A (n.*623T>A)
c.125T>A (p.Phe42Tyr)
c.113T>A (p.Phe38Tyr)
c.-158T>A (n.-158T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173738T>CCA364105807CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*360T>C (n.*360T>C)
c.*623T>C (n.*623T>C)
c.125T>C (p.Phe42Ser)
c.113T>C (p.Phe38Ser)
c.-158T>C (n.-158T>C)
 gnomAD v4
6g.42173738T>GCA364105810CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*360T>G (n.*360T>G)
c.*623T>G (n.*623T>G)
c.125T>G (p.Phe42Cys)
c.113T>G (p.Phe38Cys)
c.-158T>G (n.-158T>G)
6g.42173738T=CA1623929390CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*360T= (n.*360T=)
c.*623T= (n.*623T=)
c.125T= (p.Phe42=)
c.113T= (p.Phe38=)
c.-158T= (n.-158T=)
6g.42173739C>ACA364105811CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*361C>A (n.*361C>A)
c.*624C>A (n.*624C>A)
c.126C>A (p.Phe42Leu)
c.114C>A (p.Phe38Leu)
c.-157C>A (n.-157C>A)
 COSMIC
6g.42173739C>GCA364105814CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*361C>G (n.*361C>G)
c.*624C>G (n.*624C>G)
c.126C>G (p.Phe42Leu)
c.114C>G (p.Phe38Leu)
c.-157C>G (n.-157C>G)
6g.42173739C>TCA450240587CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*361C>T (n.*361C>T)
c.*624C>T (n.*624C>T)
c.126C>T (p.Phe42=)
c.114C>T (p.Phe38=)
c.-157C>T (n.-157C>T)
 ClinVar
6g.42173740T>ACA364105816CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*362T>A (n.*362T>A)
c.*625T>A (n.*625T>A)
c.127T>A (p.Phe43Ile)
c.115T>A (p.Phe39Ile)
c.-156T>A (n.-156T>A)
6g.42173740T>CCA364105818CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*362T>C (n.*362T>C)
c.*625T>C (n.*625T>C)
c.127T>C (p.Phe43Leu)
c.115T>C (p.Phe39Leu)
c.-156T>C (n.-156T>C)
 gnomAD v4
6g.42173740T>GCA364105819CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*362T>G (n.*362T>G)
c.*625T>G (n.*625T>G)
c.127T>G (p.Phe43Val)
c.115T>G (p.Phe39Val)
c.-156T>G (n.-156T>G)
6g.42173741T>ACA364105822CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*363T>A (n.*363T>A)
c.*626T>A (n.*626T>A)
c.128T>A (p.Phe43Tyr)
c.116T>A (p.Phe39Tyr)
c.-155T>A (n.-155T>A)
6g.42173741T>CCA364105821CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*363T>C (n.*363T>C)
c.*626T>C (n.*626T>C)
c.128T>C (p.Phe43Ser)
c.116T>C (p.Phe39Ser)
c.-155T>C (n.-155T>C)
6g.42173741T>GCA364105820CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*363T>G (n.*363T>G)
c.*626T>G (n.*626T>G)
c.128T>G (p.Phe43Cys)
c.116T>G (p.Phe39Cys)
c.-155T>G (n.-155T>G)
6g.42173742C>ACA364105824CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*364C>A (n.*364C>A)
c.*627C>A (n.*627C>A)
c.129C>A (p.Phe43Leu)
c.117C>A (p.Phe39Leu)
c.-154C>A (n.-154C>A)
6g.42173742C=CA1623929393CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*364C= (n.*364C=)
c.*627C= (n.*627C=)
c.129C= (p.Phe43=)
c.117C= (p.Phe39=)
c.-154C= (n.-154C=)
6g.42173742C>GCA364105826CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*364C>G (n.*364C>G)
c.*627C>G (n.*627C>G)
c.129C>G (p.Phe43Leu)
c.117C>G (p.Phe39Leu)
c.-154C>G (n.-154C>G)
6g.42173742C>TCA3805270CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*364C>T (n.*364C>T)
c.*627C>T (n.*627C>T)
c.129C>T (p.Phe43=)
c.117C>T (p.Phe39=)
c.-154C>T (n.-154C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173743G>ACA3805271CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*365G>A (n.*365G>A)
c.*628G>A (n.*628G>A)
c.130G>A (p.Gly44Ser)
c.118G>A (p.Gly40Ser)
c.-153G>A (n.-153G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173743G>CCA364105829CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*365G>C (n.*365G>C)
c.*628G>C (n.*628G>C)
c.130G>C (p.Gly44Arg)
c.118G>C (p.Gly40Arg)
c.-153G>C (n.-153G>C)
6g.42173743G=CA1623929398CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*365G= (n.*365G=)
c.*628G= (n.*628G=)
c.130G= (p.Gly44=)
c.118G= (p.Gly40=)
c.-153G= (n.-153G=)
6g.42173743G>TCA364105831CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*365G>T (n.*365G>T)
c.*628G>T (n.*628G>T)
c.130G>T (p.Gly44Cys)
c.118G>T (p.Gly40Cys)
c.-153G>T (n.-153G>T)
6g.42173744G>ACA364105834CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*366G>A (n.*366G>A)
c.*629G>A (n.*629G>A)
c.131G>A (p.Gly44Asp)
c.119G>A (p.Gly40Asp)
c.-152G>A (n.-152G>A)
6g.42173744G>CCA364105837CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*366G>C (n.*366G>C)
c.*629G>C (n.*629G>C)
c.131G>C (p.Gly44Ala)
c.119G>C (p.Gly40Ala)
c.-152G>C (n.-152G>C)
6g.42173744G>TCA364105842CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*366G>T (n.*366G>T)
c.*629G>T (n.*629G>T)
c.131G>T (p.Gly44Val)
c.119G>T (p.Gly40Val)
c.-152G>T (n.-152G>T)
6g.42173745C>ACA450240591CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*367C>A (n.*367C>A)
c.*630C>A (n.*630C>A)
c.132C>A (p.Gly44=)
c.120C>A (p.Gly40=)
c.-151C>A (n.-151C>A)
6g.42173745C>GCA450240592CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*367C>G (n.*367C>G)
c.*630C>G (n.*630C>G)
c.132C>G (p.Gly44=)
c.120C>G (p.Gly40=)
c.-151C>G (n.-151C>G)
 gnomAD v4
6g.42173745C>TCA450240593CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*367C>T (n.*367C>T)
c.*630C>T (n.*630C>T)
c.132C>T (p.Gly44=)
c.120C>T (p.Gly40=)
c.-151C>T (n.-151C>T)
6g.42173746C>ACA364105843CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*368C>A (n.*368C>A)
c.*631C>A (n.*631C>A)
c.133C>A (p.Leu45Ile)
c.121C>A (p.Leu41Ile)
c.-150C>A (n.-150C>A)
6g.42173746C=CA1623929404CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*368C= (n.*368C=)
c.*631C= (n.*631C=)
c.133C= (p.Leu45=)
c.121C= (p.Leu41=)
c.-150C= (n.-150C=)
6g.42173746C>GCA364105846CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*368C>G (n.*368C>G)
c.*631C>G (n.*631C>G)
c.133C>G (p.Leu45Val)
c.121C>G (p.Leu41Val)
c.-150C>G (n.-150C>G)
6g.42173746C>TCA364105849CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*368C>T (n.*368C>T)
c.*631C>T (n.*631C>T)
c.133C>T (p.Leu45Phe)
c.121C>T (p.Leu41Phe)
c.-150C>T (n.-150C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.42173747T>ACA364105852CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*369T>A (n.*369T>A)
c.*632T>A (n.*632T>A)
c.134T>A (p.Leu45His)
c.122T>A (p.Leu41His)
c.-149T>A (n.-149T>A)
6g.42173747T>CCA364105856CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*369T>C (n.*369T>C)
c.*632T>C (n.*632T>C)
c.134T>C (p.Leu45Pro)
c.122T>C (p.Leu41Pro)
c.-149T>C (n.-149T>C)
6g.42173747T>GCA364105851CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*369T>G (n.*369T>G)
c.*632T>G (n.*632T>G)
c.134T>G (p.Leu45Arg)
c.122T>G (p.Leu41Arg)
c.-149T>G (n.-149T>G)
6g.42173748C>ACA450240595CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*370C>A (n.*370C>A)
c.*633C>A (n.*633C>A)
c.135C>A (p.Leu45=)
c.123C>A (p.Leu41=)
c.-148C>A (n.-148C>A)
6g.42173748C>GCA450240596CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*370C>G (n.*370C>G)
c.*633C>G (n.*633C>G)
c.135C>G (p.Leu45=)
c.123C>G (p.Leu41=)
c.-148C>G (n.-148C>G)
6g.42173748C>TCA450240597CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*370C>T (n.*370C>T)
c.*633C>T (n.*633C>T)
c.135C>T (p.Leu45=)
c.123C>T (p.Leu41=)
c.-148C>T (n.-148C>T)
6g.42173749A>CCA364105860CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*371A>C (n.*371A>C)
c.*634A>C (n.*634A>C)
c.136A>C (p.Lys46Gln)
c.124A>C (p.Lys42Gln)
c.-147A>C (n.-147A>C)
6g.42173749A>GCA364105858CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*371A>G (n.*371A>G)
c.*634A>G (n.*634A>G)
c.136A>G (p.Lys46Glu)
c.124A>G (p.Lys42Glu)
c.-147A>G (n.-147A>G)
6g.42173749A>TCA364105859CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*371A>T (n.*371A>T)
c.*634A>T (n.*634A>T)
c.136A>T (p.Lys46Ter)
c.124A>T (p.Lys42Ter)
c.-147A>T (n.-147A>T)
6g.42173750A>CCA364105863CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*372A>C (n.*372A>C)
c.*635A>C (n.*635A>C)
c.137A>C (p.Lys46Thr)
c.125A>C (p.Lys42Thr)
c.-146A>C (n.-146A>C)
 gnomAD v4
6g.42173750A>GCA364105865CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*372A>G (n.*372A>G)
c.*635A>G (n.*635A>G)
c.137A>G (p.Lys46Arg)
c.125A>G (p.Lys42Arg)
c.-146A>G (n.-146A>G)
 gnomAD v4
6g.42173750A>TCA364105867CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*372A>T (n.*372A>T)
c.*635A>T (n.*635A>T)
c.137A>T (p.Lys46Met)
c.125A>T (p.Lys42Met)
c.-146A>T (n.-146A>T)
6g.42173751G>ACA450240602CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*373G>A (n.*373G>A)
c.*636G>A (n.*636G>A)
c.138G>A (p.Lys46=)
c.126G>A (p.Lys42=)
c.-145G>A (n.-145G>A)
 dbSNP
6g.42173751G>CCA364105871CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*373G>C (n.*373G>C)
c.*636G>C (n.*636G>C)
c.138G>C (p.Lys46Asn)
c.126G>C (p.Lys42Asn)
c.-145G>C (n.-145G>C)
6g.42173751G>TCA364105874CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*373G>T (n.*373G>T)
c.*636G>T (n.*636G>T)
c.138G>T (p.Lys46Asn)
c.126G>T (p.Lys42Asn)
c.-145G>T (n.-145G>T)
6g.42173752A>CCA364105876CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*374A>C (n.*374A>C)
c.*637A>C (n.*637A>C)
c.139A>C (p.Asn47His)
c.127A>C (p.Asn43His)
c.-144A>C (n.-144A>C)
6g.42173752A>GCA364105879CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*374A>G (n.*374A>G)
c.*637A>G (n.*637A>G)
c.139A>G (p.Asn47Asp)
c.127A>G (p.Asn43Asp)
c.-144A>G (n.-144A>G)
6g.42173752A>TCA364105881CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*374A>T (n.*374A>T)
c.*637A>T (n.*637A>T)
c.139A>T (p.Asn47Tyr)
c.127A>T (p.Asn43Tyr)
c.-144A>T (n.-144A>T)
6g.42173753A=CA1623929408CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*375A= (n.*375A=)
c.*638A= (n.*638A=)
c.140A= (p.Asn47=)
c.128A= (p.Asn43=)
c.-143A= (n.-143A=)
6g.42173753A>CCA364105883CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*375A>C (n.*375A>C)
c.*638A>C (n.*638A>C)
c.140A>C (p.Asn47Thr)
c.128A>C (p.Asn43Thr)
c.-143A>C (n.-143A>C)
 dbSNP
6g.42173753A>GCA364105885CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*375A>G (n.*375A>G)
c.*638A>G (n.*638A>G)
c.140A>G (p.Asn47Ser)
c.128A>G (p.Asn43Ser)
c.-143A>G (n.-143A>G)
6g.42173753A>TCA364105887CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*375A>T (n.*375A>T)
c.*638A>T (n.*638A>T)
c.140A>T (p.Asn47Ile)
c.128A>T (p.Asn43Ile)
c.-143A>T (n.-143A>T)
6g.42173754C>ACA364105890CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*376C>A (n.*376C>A)
c.*639C>A (n.*639C>A)
c.141C>A (p.Asn47Lys)
c.129C>A (p.Asn43Lys)
c.-142C>A (n.-142C>A)
 gnomAD v4
6g.42173754C>GCA364105891CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*376C>G (n.*376C>G)
c.*639C>G (n.*639C>G)
c.141C>G (p.Asn47Lys)
c.129C>G (p.Asn43Lys)
c.-142C>G (n.-142C>G)
6g.42173754C>TCA450240606CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*376C>T (n.*376C>T)
c.*639C>T (n.*639C>T)
c.141C>T (p.Asn47=)
c.129C>T (p.Asn43=)
c.-142C>T (n.-142C>T)
6g.42173755C>ACA364105894CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*377C>A (n.*377C>A)
c.*640C>A (n.*640C>A)
c.142C>A (p.Leu48Met)
c.130C>A (p.Leu44Met)
c.-141C>A (n.-141C>A)
 dbSNP gnomAD v4 COSMIC
6g.42173755C=CA1623929413CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*377C= (n.*377C=)
c.*640C= (n.*640C=)
c.142C= (p.Leu48=)
c.130C= (p.Leu44=)
c.-141C= (n.-141C=)
6g.42173755C>GCA364105897CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*377C>G (n.*377C>G)
c.*640C>G (n.*640C>G)
c.142C>G (p.Leu48Val)
c.130C>G (p.Leu44Val)
c.-141C>G (n.-141C>G)
6g.42173755C>TCA234102CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*377C>T (n.*377C>T)
c.*640C>T (n.*640C>T)
c.142C>T (p.Leu48=)
c.130C>T (p.Leu44=)
c.-141C>T (n.-141C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173756T>ACA364105900CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*378T>A (n.*378T>A)
c.*641T>A (n.*641T>A)
c.143T>A (p.Leu48Gln)
c.131T>A (p.Leu44Gln)
c.-140T>A (n.-140T>A)
6g.42173756T>CCA364105902CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*378T>C (n.*378T>C)
c.*641T>C (n.*641T>C)
c.143T>C (p.Leu48Pro)
c.131T>C (p.Leu44Pro)
c.-140T>C (n.-140T>C)
 COSMIC
6g.42173756T>GCA364105904CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*378T>G (n.*378T>G)
c.*641T>G (n.*641T>G)
c.143T>G (p.Leu48Arg)
c.131T>G (p.Leu44Arg)
c.-140T>G (n.-140T>G)
6g.42173757G>ACA450240611CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*379G>A (n.*379G>A)
c.*642G>A (n.*642G>A)
c.144G>A (p.Leu48=)
c.132G>A (p.Leu44=)
c.-139G>A (n.-139G>A)
6g.42173757G>CCA450240610CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*379G>C (n.*379G>C)
c.*642G>C (n.*642G>C)
c.144G>C (p.Leu48=)
c.132G>C (p.Leu44=)
c.-139G>C (n.-139G>C)
 gnomAD v4
6g.42173757G>TCA450240608CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*379G>T (n.*379G>T)
c.*642G>T (n.*642G>T)
c.144G>T (p.Leu48=)
c.132G>T (p.Leu44=)
c.-139G>T (n.-139G>T)
6g.42173758A=CA1623929416CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*380A= (n.*380A=)
c.*643A= (n.*643A=)
c.145A= (p.Ser49=)
c.133A= (p.Ser45=)
c.-138A= (n.-138A=)
6g.42173758A>CCA3805272CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*380A>C (n.*380A>C)
c.*643A>C (n.*643A>C)
c.145A>C (p.Ser49Arg)
c.133A>C (p.Ser45Arg)
c.-138A>C (n.-138A>C)
 dbSNP ExAC gnomAD v2
6g.42173758A>GCA364105908CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*380A>G (n.*380A>G)
c.*643A>G (n.*643A>G)
c.145A>G (p.Ser49Gly)
c.133A>G (p.Ser45Gly)
c.-138A>G (n.-138A>G)
6g.42173758A>TCA364105911CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*380A>T (n.*380A>T)
c.*643A>T (n.*643A>T)
c.145A>T (p.Ser49Cys)
c.133A>T (p.Ser45Cys)
c.-138A>T (n.-138A>T)
6g.42173759G>ACA364105913CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*381G>A (n.*381G>A)
c.*644G>A (n.*644G>A)
c.146G>A (p.Ser49Asn)
c.134G>A (p.Ser45Asn)
c.-137G>A (n.-137G>A)
6g.42173759G>CCA364105915CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*381G>C (n.*381G>C)
c.*644G>C (n.*644G>C)
c.146G>C (p.Ser49Thr)
c.134G>C (p.Ser45Thr)
c.-137G>C (n.-137G>C)
6g.42173759G>TCA364105918CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*381G>T (n.*381G>T)
c.*644G>T (n.*644G>T)
c.146G>T (p.Ser49Ile)
c.134G>T (p.Ser45Ile)
c.-137G>T (n.-137G>T)
6g.42173760C>ACA364105923CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*382C>A (n.*382C>A)
c.*645C>A (n.*645C>A)
c.147C>A (p.Ser49Arg)
c.135C>A (p.Ser45Arg)
c.-136C>A (n.-136C>A)
 gnomAD v4
6g.42173760C>GCA364105921CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*382C>G (n.*382C>G)
c.*645C>G (n.*645C>G)
c.147C>G (p.Ser49Arg)
c.135C>G (p.Ser45Arg)
c.-136C>G (n.-136C>G)
6g.42173760C>TCA450240613CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*382C>T (n.*382C>T)
c.*645C>T (n.*645C>T)
c.147C>T (p.Ser49=)
c.135C>T (p.Ser45=)
c.-136C>T (n.-136C>T)
6g.42173761C>ACA364105926CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*383C>A (n.*383C>A)
c.*646C>A (n.*646C>A)
c.148C>A (p.Pro50Thr)
c.136C>A (p.Pro46Thr)
c.-135C>A (n.-135C>A)
6g.42173761C=CA1623929422CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*383C= (n.*383C=)
c.*646C= (n.*646C=)
c.148C= (p.Pro50=)
c.136C= (p.Pro46=)
c.-135C= (n.-135C=)
6g.42173761C>GCA364105928CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*383C>G (n.*383C>G)
c.*646C>G (n.*646C>G)
c.148C>G (p.Pro50Ala)
c.136C>G (p.Pro46Ala)
c.-135C>G (n.-135C>G)
 gnomAD v4
6g.42173761C>TCA364105929CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*383C>T (n.*383C>T)
c.*646C>T (n.*646C>T)
c.148C>T (p.Pro50Ser)
c.136C>T (p.Pro46Ser)
c.-135C>T (n.-135C>T)
 dbSNP
6g.42173762C>ACA364105931CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*384C>A (n.*384C>A)
c.*647C>A (n.*647C>A)
c.149C>A (p.Pro50Gln)
c.137C>A (p.Pro46Gln)
c.-134C>A (n.-134C>A)
 gnomAD v4
6g.42173762C=CA1623929428CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*384C= (n.*384C=)
c.*647C= (n.*647C=)
c.149C= (p.Pro50=)
c.137C= (p.Pro46=)
c.-134C= (n.-134C=)
6g.42173762C>GCA3805273CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*384C>G (n.*384C>G)
c.*647C>G (n.*647C>G)
c.149C>G (p.Pro50Arg)
c.137C>G (p.Pro46Arg)
c.-134C>G (n.-134C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173762C>TCA120149CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*384C>T (n.*384C>T)
c.*647C>T (n.*647C>T)
c.149C>T (p.Pro50Leu)
c.137C>T (p.Pro46Leu)
c.-134C>T (n.-134C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173763G>ACA3805274CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*385G>A (n.*385G>A)
c.*648G>A (n.*648G>A)
c.150G>A (p.Pro50=)
c.138G>A (p.Pro46=)
c.-133G>A (n.-133G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173763G>CCA450240617CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*385G>C (n.*385G>C)
c.*648G>C (n.*648G>C)
c.150G>C (p.Pro50=)
c.138G>C (p.Pro46=)
c.-133G>C (n.-133G>C)
6g.42173763G=CA1623929432CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*385G= (n.*385G=)
c.*648G= (n.*648G=)
c.150G= (p.Pro50=)
c.138G= (p.Pro46=)
c.-133G= (n.-133G=)
6g.42173763G>TCA450240619CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*385G>T (n.*385G>T)
c.*648G>T (n.*648G>T)
c.150G>T (p.Pro50=)
c.138G>T (p.Pro46=)
c.-133G>T (n.-133G>T)
6g.42173764T>ACA364105940CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*386T>A (n.*386T>A)
c.*649T>A (n.*649T>A)
c.151T>A (p.Ser51Thr)
c.139T>A (p.Ser47Thr)
c.-132T>A (n.-132T>A)
6g.42173764T>CCA364105944CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*386T>C (n.*386T>C)
c.*649T>C (n.*649T>C)
c.151T>C (p.Ser51Pro)
c.139T>C (p.Ser47Pro)
c.-132T>C (n.-132T>C)
6g.42173764T>GCA364105942CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*386T>G (n.*386T>G)
c.*649T>G (n.*649T>G)
c.151T>G (p.Ser51Ala)
c.139T>G (p.Ser47Ala)
c.-132T>G (n.-132T>G)
6g.42173765C>ACA364105948CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*387C>A (n.*387C>A)
c.*650C>A (n.*650C>A)
c.152C>A (p.Ser51Ter)
c.140C>A (p.Ser47Ter)
c.-131C>A (n.-131C>A)
6g.42173765C=CA1623929438CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*387C= (n.*387C=)
c.*650C= (n.*650C=)
c.152C= (p.Ser51=)
c.140C= (p.Ser47=)
c.-131C= (n.-131C=)
6g.42173765C>GCA364105950CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*387C>G (n.*387C>G)
c.*650C>G (n.*650C>G)
c.152C>G (p.Ser51Trp)
c.140C>G (p.Ser47Trp)
c.-131C>G (n.-131C>G)
6g.42173765C>TCA243162CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*387C>T (n.*387C>T)
c.*650C>T (n.*650C>T)
c.152C>T (p.Ser51Leu)
c.140C>T (p.Ser47Leu)
c.-131C>T (n.-131C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173766G>ACA138135100CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*388G>A (n.*388G>A)
c.*651G>A (n.*651G>A)
c.153G>A (p.Ser51=)
c.141G>A (p.Ser47=)
c.-130G>A (n.-130G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.42173766G>CCA450240623CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*388G>C (n.*388G>C)
c.*651G>C (n.*651G>C)
c.153G>C (p.Ser51=)
c.141G>C (p.Ser47=)
c.-130G>C (n.-130G>C)
6g.42173766G=CA1623929445CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*388G= (n.*388G=)
c.*651G= (n.*651G=)
c.153G= (p.Ser51=)
c.141G= (p.Ser47=)
c.-130G= (n.-130G=)
6g.42173766G>TCA450240624CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*388G>T (n.*388G>T)
c.*651G>T (n.*651G>T)
c.153G>T (p.Ser51=)
c.141G>T (p.Ser47=)
c.-130G>T (n.-130G>T)
 gnomAD v4
6g.42173767G>ACA3805275CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*389G>A (n.*389G>A)
c.*652G>A (n.*652G>A)
c.154G>A (p.Ala52Thr)
c.142G>A (p.Ala48Thr)
c.-129G>A (n.-129G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.42173767G>CCA364105956CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*389G>C (n.*389G>C)
c.*652G>C (n.*652G>C)
c.154G>C (p.Ala52Pro)
c.142G>C (p.Ala48Pro)
c.-129G>C (n.-129G>C)
6g.42173767G=CA1623929448CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*389G= (n.*389G=)
c.*652G= (n.*652G=)
c.154G= (p.Ala52=)
c.142G= (p.Ala48=)
c.-129G= (n.-129G=)
6g.42173767G>TCA364105955CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*389G>T (n.*389G>T)
c.*652G>T (n.*652G>T)
c.154G>T (p.Ala52Ser)
c.142G>T (p.Ala48Ser)
c.-129G>T (n.-129G>T)
6g.42173768C>ACA364105964CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*390C>A (n.*390C>A)
c.*653C>A (n.*653C>A)
c.155C>A (p.Ala52Asp)
c.143C>A (p.Ala48Asp)
c.-128C>A (n.-128C>A)
6g.42173768C=CA1623929452CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*390C= (n.*390C=)
c.*653C= (n.*653C=)
c.155C= (p.Ala52=)
c.143C= (p.Ala48=)
c.-128C= (n.-128C=)
6g.42173768C>GCA364105966CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*390C>G (n.*390C>G)
c.*653C>G (n.*653C>G)
c.155C>G (p.Ala52Gly)
c.143C>G (p.Ala48Gly)
c.-128C>G (n.-128C>G)
 ClinVar
6g.42173768C>TCA3805276CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*390C>T (n.*390C>T)
c.*653C>T (n.*653C>T)
c.155C>T (p.Ala52Val)
c.143C>T (p.Ala48Val)
c.-128C>T (n.-128C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.42173768_42173769delinsGTCA2739273020CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*390_*391delinsGT (n.*390_*391delinsGT)
c.*653_*654delinsGT (n.*653_*654delinsGT)
c.155_156delinsGT (p.Ala52Gly)
c.143_144delinsGT (p.Ala48Gly)
c.-128_-127delinsGT (n.-128_-127delinsGT)
 ClinVar
6g.42173769C>ACA450240626CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*391C>A (n.*391C>A)
c.*654C>A (n.*654C>A)
c.156C>A (p.Ala52=)
c.144C>A (p.Ala48=)
c.-127C>A (n.-127C>A)
6g.42173769C>GCA450240628CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*391C>G (n.*391C>G)
c.*654C>G (n.*654C>G)
c.156C>G (p.Ala52=)
c.144C>G (p.Ala48=)
c.-127C>G (n.-127C>G)
6g.42173769C>TCA450240629CIMIP3,GUCA1A,GUCA1ANB-GUCA1Ac.*391C>T (n.*391C>T)
c.*654C>T (n.*654C>T)
c.156C>T (p.Ala52=)
c.144C>T (p.Ala48=)
c.-127C>T (n.-127C>T)

Number of alleles fetched