Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178740839G>ACA349615301TTNc.10361-2479C>T (n.10361-2479C>T)
c.11881C>T (p.Leu3961Phe)
c.11680C>T (p.Leu3894Phe)
c.11305C>T (p.Leu3769Phe)
c.12394C>T (p.Leu4132Phe)
c.11443C>T (p.Leu3815Phe)
c.11491C>T (p.Leu3831Phe)
c.11350C>T (p.Leu3784Phe)
c.11446C>T (p.Leu3816Phe)
c.10364-2479C>T (n.10364-2479C>T)
gnomAD v4
2g.178740839G>CCA2002719TTNc.10361-2479C>G (n.10361-2479C>G)
c.11881C>G (p.Leu3961Val)
c.11680C>G (p.Leu3894Val)
c.11305C>G (p.Leu3769Val)
c.12394C>G (p.Leu4132Val)
c.11443C>G (p.Leu3815Val)
c.11491C>G (p.Leu3831Val)
c.11350C>G (p.Leu3784Val)
c.11446C>G (p.Leu3816Val)
c.10364-2479C>G (n.10364-2479C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178740839G=CA1310601736TTNc.10361-2479C= (n.10361-2479C=)
c.11881C= (p.Leu3961=)
c.11680C= (p.Leu3894=)
c.11305C= (p.Leu3769=)
c.12394C= (p.Leu4132=)
c.11443C= (p.Leu3815=)
c.11491C= (p.Leu3831=)
c.11350C= (p.Leu3784=)
c.11446C= (p.Leu3816=)
c.10364-2479C= (n.10364-2479C=)
2g.178740839G>TCA349615303TTNc.10361-2479C>A (n.10361-2479C>A)
c.11881C>A (p.Leu3961Ile)
c.11680C>A (p.Leu3894Ile)
c.11305C>A (p.Leu3769Ile)
c.12394C>A (p.Leu4132Ile)
c.11443C>A (p.Leu3815Ile)
c.11491C>A (p.Leu3831Ile)
c.11350C>A (p.Leu3784Ile)
c.11446C>A (p.Leu3816Ile)
c.10364-2479C>A (n.10364-2479C>A)
gnomAD v4 COSMIC COSMIC
2g.178740840A>CCA349615306TTNc.10361-2480T>G (n.10361-2480T>G)
c.11880T>G (p.Phe3960Leu)
c.11679T>G (p.Phe3893Leu)
c.11304T>G (p.Phe3768Leu)
c.12393T>G (p.Phe4131Leu)
c.11442T>G (p.Phe3814Leu)
c.11490T>G (p.Phe3830Leu)
c.11349T>G (p.Phe3783Leu)
c.11445T>G (p.Phe3815Leu)
c.10364-2480T>G (n.10364-2480T>G)
2g.178740840A>GCA430296546TTNc.10361-2480T>C (n.10361-2480T>C)
c.11880T>C (p.Phe3960=)
c.11679T>C (p.Phe3893=)
c.11304T>C (p.Phe3768=)
c.12393T>C (p.Phe4131=)
c.11442T>C (p.Phe3814=)
c.11490T>C (p.Phe3830=)
c.11349T>C (p.Phe3783=)
c.11445T>C (p.Phe3815=)
c.10364-2480T>C (n.10364-2480T>C)
2g.178740840A>TCA349615307TTNc.10361-2480T>A (n.10361-2480T>A)
c.11880T>A (p.Phe3960Leu)
c.11679T>A (p.Phe3893Leu)
c.11304T>A (p.Phe3768Leu)
c.12393T>A (p.Phe4131Leu)
c.11442T>A (p.Phe3814Leu)
c.11490T>A (p.Phe3830Leu)
c.11349T>A (p.Phe3783Leu)
c.11445T>A (p.Phe3815Leu)
c.10364-2480T>A (n.10364-2480T>A)
2g.178740841A>CCA349615309TTNc.10361-2481T>G (n.10361-2481T>G)
c.11879T>G (p.Phe3960Cys)
c.11678T>G (p.Phe3893Cys)
c.11303T>G (p.Phe3768Cys)
c.12392T>G (p.Phe4131Cys)
c.11441T>G (p.Phe3814Cys)
c.11489T>G (p.Phe3830Cys)
c.11348T>G (p.Phe3783Cys)
c.11444T>G (p.Phe3815Cys)
c.10364-2481T>G (n.10364-2481T>G)
dbSNP
2g.178740841A>GCA349615311TTNc.10361-2481T>C (n.10361-2481T>C)
c.11879T>C (p.Phe3960Ser)
c.11678T>C (p.Phe3893Ser)
c.11303T>C (p.Phe3768Ser)
c.12392T>C (p.Phe4131Ser)
c.11441T>C (p.Phe3814Ser)
c.11489T>C (p.Phe3830Ser)
c.11348T>C (p.Phe3783Ser)
c.11444T>C (p.Phe3815Ser)
c.10364-2481T>C (n.10364-2481T>C)
2g.178740841A>TCA349615312TTNc.10361-2481T>A (n.10361-2481T>A)
c.11879T>A (p.Phe3960Tyr)
c.11678T>A (p.Phe3893Tyr)
c.11303T>A (p.Phe3768Tyr)
c.12392T>A (p.Phe4131Tyr)
c.11441T>A (p.Phe3814Tyr)
c.11489T>A (p.Phe3830Tyr)
c.11348T>A (p.Phe3783Tyr)
c.11444T>A (p.Phe3815Tyr)
c.10364-2481T>A (n.10364-2481T>A)
2g.178740842A=CA1310601738TTNc.10361-2482T= (n.10361-2482T=)
c.11878T= (p.Phe3960=)
c.11677T= (p.Phe3893=)
c.11302T= (p.Phe3768=)
c.12391T= (p.Phe4131=)
c.11440T= (p.Phe3814=)
c.11488T= (p.Phe3830=)
c.11347T= (p.Phe3783=)
c.11443T= (p.Phe3815=)
c.10364-2482T= (n.10364-2482T=)
2g.178740842A>CCA349615316TTNc.10361-2482T>G (n.10361-2482T>G)
c.11878T>G (p.Phe3960Val)
c.11677T>G (p.Phe3893Val)
c.11302T>G (p.Phe3768Val)
c.12391T>G (p.Phe4131Val)
c.11440T>G (p.Phe3814Val)
c.11488T>G (p.Phe3830Val)
c.11347T>G (p.Phe3783Val)
c.11443T>G (p.Phe3815Val)
c.10364-2482T>G (n.10364-2482T>G)
2g.178740842A>GCA2002721TTNc.10361-2482T>C (n.10361-2482T>C)
c.11878T>C (p.Phe3960Leu)
c.11677T>C (p.Phe3893Leu)
c.11302T>C (p.Phe3768Leu)
c.12391T>C (p.Phe4131Leu)
c.11440T>C (p.Phe3814Leu)
c.11488T>C (p.Phe3830Leu)
c.11347T>C (p.Phe3783Leu)
c.11443T>C (p.Phe3815Leu)
c.10364-2482T>C (n.10364-2482T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178740842A>TCA2002720TTNc.10361-2482T>A (n.10361-2482T>A)
c.11878T>A (p.Phe3960Ile)
c.11677T>A (p.Phe3893Ile)
c.11302T>A (p.Phe3768Ile)
c.12391T>A (p.Phe4131Ile)
c.11440T>A (p.Phe3814Ile)
c.11488T>A (p.Phe3830Ile)
c.11347T>A (p.Phe3783Ile)
c.11443T>A (p.Phe3815Ile)
c.10364-2482T>A (n.10364-2482T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178740843T>ACA349615319TTNc.10361-2483A>T (n.10361-2483A>T)
c.11877A>T (p.Glu3959Asp)
c.11676A>T (p.Glu3892Asp)
c.11301A>T (p.Glu3767Asp)
c.12390A>T (p.Glu4130Asp)
c.11439A>T (p.Glu3813Asp)
c.11487A>T (p.Glu3829Asp)
c.11346A>T (p.Glu3782Asp)
c.11442A>T (p.Glu3814Asp)
c.10364-2483A>T (n.10364-2483A>T)
2g.178740843T>CCA430296547TTNc.10361-2483A>G (n.10361-2483A>G)
c.11877A>G (p.Glu3959=)
c.11676A>G (p.Glu3892=)
c.11301A>G (p.Glu3767=)
c.12390A>G (p.Glu4130=)
c.11439A>G (p.Glu3813=)
c.11487A>G (p.Glu3829=)
c.11346A>G (p.Glu3782=)
c.11442A>G (p.Glu3814=)
c.10364-2483A>G (n.10364-2483A>G)
2g.178740843T>GCA349615320TTNc.10361-2483A>C (n.10361-2483A>C)
c.11877A>C (p.Glu3959Asp)
c.11676A>C (p.Glu3892Asp)
c.11301A>C (p.Glu3767Asp)
c.12390A>C (p.Glu4130Asp)
c.11439A>C (p.Glu3813Asp)
c.11487A>C (p.Glu3829Asp)
c.11346A>C (p.Glu3782Asp)
c.11442A>C (p.Glu3814Asp)
c.10364-2483A>C (n.10364-2483A>C)
COSMIC COSMIC
2g.178740844T>ACA2002722TTNc.10361-2484A>T (n.10361-2484A>T)
c.11876A>T (p.Glu3959Val)
c.11675A>T (p.Glu3892Val)
c.11300A>T (p.Glu3767Val)
c.12389A>T (p.Glu4130Val)
c.11438A>T (p.Glu3813Val)
c.11486A>T (p.Glu3829Val)
c.11345A>T (p.Glu3782Val)
c.11441A>T (p.Glu3814Val)
c.10364-2484A>T (n.10364-2484A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178740844T>CCA349615323TTNc.10361-2484A>G (n.10361-2484A>G)
c.11876A>G (p.Glu3959Gly)
c.11675A>G (p.Glu3892Gly)
c.11300A>G (p.Glu3767Gly)
c.12389A>G (p.Glu4130Gly)
c.11438A>G (p.Glu3813Gly)
c.11486A>G (p.Glu3829Gly)
c.11345A>G (p.Glu3782Gly)
c.11441A>G (p.Glu3814Gly)
c.10364-2484A>G (n.10364-2484A>G)
2g.178740844T>GCA349615324TTNc.10361-2484A>C (n.10361-2484A>C)
c.11876A>C (p.Glu3959Ala)
c.11675A>C (p.Glu3892Ala)
c.11300A>C (p.Glu3767Ala)
c.12389A>C (p.Glu4130Ala)
c.11438A>C (p.Glu3813Ala)
c.11486A>C (p.Glu3829Ala)
c.11345A>C (p.Glu3782Ala)
c.11441A>C (p.Glu3814Ala)
c.10364-2484A>C (n.10364-2484A>C)
dbSNP
2g.178740844T=CA1310601741TTNc.10361-2484A= (n.10361-2484A=)
c.11876A= (p.Glu3959=)
c.11675A= (p.Glu3892=)
c.11300A= (p.Glu3767=)
c.12389A= (p.Glu4130=)
c.11438A= (p.Glu3813=)
c.11486A= (p.Glu3829=)
c.11345A= (p.Glu3782=)
c.11441A= (p.Glu3814=)
c.10364-2484A= (n.10364-2484A=)
2g.178740845C>ACA349615328TTNc.10361-2485G>T (n.10361-2485G>T)
c.11875G>T (p.Glu3959Ter)
c.11674G>T (p.Glu3892Ter)
c.11299G>T (p.Glu3767Ter)
c.12388G>T (p.Glu4130Ter)
c.11437G>T (p.Glu3813Ter)
c.11485G>T (p.Glu3829Ter)
c.11344G>T (p.Glu3782Ter)
c.11440G>T (p.Glu3814Ter)
c.10364-2485G>T (n.10364-2485G>T)
2g.178740845C>GCA349615329TTNc.10361-2485G>C (n.10361-2485G>C)
c.11875G>C (p.Glu3959Gln)
c.11674G>C (p.Glu3892Gln)
c.11299G>C (p.Glu3767Gln)
c.12388G>C (p.Glu4130Gln)
c.11437G>C (p.Glu3813Gln)
c.11485G>C (p.Glu3829Gln)
c.11344G>C (p.Glu3782Gln)
c.11440G>C (p.Glu3814Gln)
c.10364-2485G>C (n.10364-2485G>C)
2g.178740845C>TCA349615330TTNc.10361-2485G>A (n.10361-2485G>A)
c.11875G>A (p.Glu3959Lys)
c.11674G>A (p.Glu3892Lys)
c.11299G>A (p.Glu3767Lys)
c.12388G>A (p.Glu4130Lys)
c.11437G>A (p.Glu3813Lys)
c.11485G>A (p.Glu3829Lys)
c.11344G>A (p.Glu3782Lys)
c.11440G>A (p.Glu3814Lys)
c.10364-2485G>A (n.10364-2485G>A)
COSMIC COSMIC
2g.178740846C>ACA349615333TTNc.10361-2486G>T (n.10361-2486G>T)
c.11874G>T (p.Arg3958Ser)
c.11673G>T (p.Arg3891Ser)
c.11298G>T (p.Arg3766Ser)
c.12387G>T (p.Arg4129Ser)
c.11436G>T (p.Arg3812Ser)
c.11484G>T (p.Arg3828Ser)
c.11343G>T (p.Arg3781Ser)
c.11439G>T (p.Arg3813Ser)
c.10364-2486G>T (n.10364-2486G>T)
2g.178740846C=CA1310601743TTNc.10361-2486G= (n.10361-2486G=)
c.11874G= (p.Arg3958=)
c.11673G= (p.Arg3891=)
c.11298G= (p.Arg3766=)
c.12387G= (p.Arg4129=)
c.11436G= (p.Arg3812=)
c.11484G= (p.Arg3828=)
c.11343G= (p.Arg3781=)
c.11439G= (p.Arg3813=)
c.10364-2486G= (n.10364-2486G=)
2g.178740846C>GCA238161TTNc.10361-2486G>C (n.10361-2486G>C)
c.11874G>C (p.Arg3958Ser)
c.11673G>C (p.Arg3891Ser)
c.11298G>C (p.Arg3766Ser)
c.12387G>C (p.Arg4129Ser)
c.11436G>C (p.Arg3812Ser)
c.11484G>C (p.Arg3828Ser)
c.11343G>C (p.Arg3781Ser)
c.11439G>C (p.Arg3813Ser)
c.10364-2486G>C (n.10364-2486G>C)
ClinVar dbSNP gnomAD v4
2g.178740846C>TCA2002723TTNc.10361-2486G>A (n.10361-2486G>A)
c.11874G>A (p.Arg3958=)
c.11673G>A (p.Arg3891=)
c.11298G>A (p.Arg3766=)
c.12387G>A (p.Arg4129=)
c.11436G>A (p.Arg3812=)
c.11484G>A (p.Arg3828=)
c.11343G>A (p.Arg3781=)
c.11439G>A (p.Arg3813=)
c.10364-2486G>A (n.10364-2486G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178740847C>ACA349615338TTNc.10361-2487G>T (n.10361-2487G>T)
c.11873G>T (p.Arg3958Met)
c.11672G>T (p.Arg3891Met)
c.11297G>T (p.Arg3766Met)
c.12386G>T (p.Arg4129Met)
c.11435G>T (p.Arg3812Met)
c.11483G>T (p.Arg3828Met)
c.11342G>T (p.Arg3781Met)
c.11438G>T (p.Arg3813Met)
c.10364-2487G>T (n.10364-2487G>T)
2g.178740847C>GCA349615339TTNc.10361-2487G>C (n.10361-2487G>C)
c.11873G>C (p.Arg3958Thr)
c.11672G>C (p.Arg3891Thr)
c.11297G>C (p.Arg3766Thr)
c.12386G>C (p.Arg4129Thr)
c.11435G>C (p.Arg3812Thr)
c.11483G>C (p.Arg3828Thr)
c.11342G>C (p.Arg3781Thr)
c.11438G>C (p.Arg3813Thr)
c.10364-2487G>C (n.10364-2487G>C)
2g.178740847C>TCA349615341TTNc.10361-2487G>A (n.10361-2487G>A)
c.11873G>A (p.Arg3958Lys)
c.11672G>A (p.Arg3891Lys)
c.11297G>A (p.Arg3766Lys)
c.12386G>A (p.Arg4129Lys)
c.11435G>A (p.Arg3812Lys)
c.11483G>A (p.Arg3828Lys)
c.11342G>A (p.Arg3781Lys)
c.11438G>A (p.Arg3813Lys)
c.10364-2487G>A (n.10364-2487G>A)
2g.178740848T>ACA349615344TTNc.10361-2488A>T (n.10361-2488A>T)
c.11872A>T (p.Arg3958Trp)
c.11671A>T (p.Arg3891Trp)
c.11296A>T (p.Arg3766Trp)
c.12385A>T (p.Arg4129Trp)
c.11434A>T (p.Arg3812Trp)
c.11482A>T (p.Arg3828Trp)
c.11341A>T (p.Arg3781Trp)
c.11437A>T (p.Arg3813Trp)
c.10364-2488A>T (n.10364-2488A>T)
2g.178740848T>CCA349615345TTNc.10361-2488A>G (n.10361-2488A>G)
c.11872A>G (p.Arg3958Gly)
c.11671A>G (p.Arg3891Gly)
c.11296A>G (p.Arg3766Gly)
c.12385A>G (p.Arg4129Gly)
c.11434A>G (p.Arg3812Gly)
c.11482A>G (p.Arg3828Gly)
c.11341A>G (p.Arg3781Gly)
c.11437A>G (p.Arg3813Gly)
c.10364-2488A>G (n.10364-2488A>G)
2g.178740848T>GCA430296549TTNc.10361-2488A>C (n.10361-2488A>C)
c.11872A>C (p.Arg3958=)
c.11671A>C (p.Arg3891=)
c.11296A>C (p.Arg3766=)
c.12385A>C (p.Arg4129=)
c.11434A>C (p.Arg3812=)
c.11482A>C (p.Arg3828=)
c.11341A>C (p.Arg3781=)
c.11437A>C (p.Arg3813=)
c.10364-2488A>C (n.10364-2488A>C)
2g.178740849G>ACA430296551TTNc.10361-2489C>T (n.10361-2489C>T)
c.11871C>T (p.Thr3957=)
c.11670C>T (p.Thr3890=)
c.11295C>T (p.Thr3765=)
c.12384C>T (p.Thr4128=)
c.11433C>T (p.Thr3811=)
c.11481C>T (p.Thr3827=)
c.11340C>T (p.Thr3780=)
c.11436C>T (p.Thr3812=)
c.10364-2489C>T (n.10364-2489C>T)
2g.178740849G>CCA430296552TTNc.10361-2489C>G (n.10361-2489C>G)
c.11871C>G (p.Thr3957=)
c.11670C>G (p.Thr3890=)
c.11295C>G (p.Thr3765=)
c.12384C>G (p.Thr4128=)
c.11433C>G (p.Thr3811=)
c.11481C>G (p.Thr3827=)
c.11340C>G (p.Thr3780=)
c.11436C>G (p.Thr3812=)
c.10364-2489C>G (n.10364-2489C>G)
dbSNP
2g.178740849G=CA1310601747TTNc.10361-2489C= (n.10361-2489C=)
c.11871C= (p.Thr3957=)
c.11670C= (p.Thr3890=)
c.11295C= (p.Thr3765=)
c.12384C= (p.Thr4128=)
c.11433C= (p.Thr3811=)
c.11481C= (p.Thr3827=)
c.11340C= (p.Thr3780=)
c.11436C= (p.Thr3812=)
c.10364-2489C= (n.10364-2489C=)
2g.178740849G>TCA2002724TTNc.10361-2489C>A (n.10361-2489C>A)
c.11871C>A (p.Thr3957=)
c.11670C>A (p.Thr3890=)
c.11295C>A (p.Thr3765=)
c.12384C>A (p.Thr4128=)
c.11433C>A (p.Thr3811=)
c.11481C>A (p.Thr3827=)
c.11340C>A (p.Thr3780=)
c.11436C>A (p.Thr3812=)
c.10364-2489C>A (n.10364-2489C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178740850G>ACA349615349TTNc.10361-2490C>T (n.10361-2490C>T)
c.11870C>T (p.Thr3957Ile)
c.11669C>T (p.Thr3890Ile)
c.11294C>T (p.Thr3765Ile)
c.12383C>T (p.Thr4128Ile)
c.11432C>T (p.Thr3811Ile)
c.11480C>T (p.Thr3827Ile)
c.11339C>T (p.Thr3780Ile)
c.11435C>T (p.Thr3812Ile)
c.10364-2490C>T (n.10364-2490C>T)
2g.178740850G>CCA349615351TTNc.10361-2490C>G (n.10361-2490C>G)
c.11870C>G (p.Thr3957Ser)
c.11669C>G (p.Thr3890Ser)
c.11294C>G (p.Thr3765Ser)
c.12383C>G (p.Thr4128Ser)
c.11432C>G (p.Thr3811Ser)
c.11480C>G (p.Thr3827Ser)
c.11339C>G (p.Thr3780Ser)
c.11435C>G (p.Thr3812Ser)
c.10364-2490C>G (n.10364-2490C>G)
2g.178740850G>TCA349615353TTNc.10361-2490C>A (n.10361-2490C>A)
c.11870C>A (p.Thr3957Asn)
c.11669C>A (p.Thr3890Asn)
c.11294C>A (p.Thr3765Asn)
c.12383C>A (p.Thr4128Asn)
c.11432C>A (p.Thr3811Asn)
c.11480C>A (p.Thr3827Asn)
c.11339C>A (p.Thr3780Asn)
c.11435C>A (p.Thr3812Asn)
c.10364-2490C>A (n.10364-2490C>A)
2g.178740851T>ACA349615355TTNc.10361-2491A>T (n.10361-2491A>T)
c.11869A>T (p.Thr3957Ser)
c.11668A>T (p.Thr3890Ser)
c.11293A>T (p.Thr3765Ser)
c.12382A>T (p.Thr4128Ser)
c.11431A>T (p.Thr3811Ser)
c.11479A>T (p.Thr3827Ser)
c.11338A>T (p.Thr3780Ser)
c.11434A>T (p.Thr3812Ser)
c.10364-2491A>T (n.10364-2491A>T)
2g.178740851T>CCA349615357TTNc.10361-2491A>G (n.10361-2491A>G)
c.11869A>G (p.Thr3957Ala)
c.11668A>G (p.Thr3890Ala)
c.11293A>G (p.Thr3765Ala)
c.12382A>G (p.Thr4128Ala)
c.11431A>G (p.Thr3811Ala)
c.11479A>G (p.Thr3827Ala)
c.11338A>G (p.Thr3780Ala)
c.11434A>G (p.Thr3812Ala)
c.10364-2491A>G (n.10364-2491A>G)
2g.178740851T>GCA349615358TTNc.10361-2491A>C (n.10361-2491A>C)
c.11869A>C (p.Thr3957Pro)
c.11668A>C (p.Thr3890Pro)
c.11293A>C (p.Thr3765Pro)
c.12382A>C (p.Thr4128Pro)
c.11431A>C (p.Thr3811Pro)
c.11479A>C (p.Thr3827Pro)
c.11338A>C (p.Thr3780Pro)
c.11434A>C (p.Thr3812Pro)
c.10364-2491A>C (n.10364-2491A>C)
2g.178740852G>ACA430296553TTNc.10361-2492C>T (n.10361-2492C>T)
c.11868C>T (p.Ser3956=)
c.11667C>T (p.Ser3889=)
c.11292C>T (p.Ser3764=)
c.12381C>T (p.Ser4127=)
c.11430C>T (p.Ser3810=)
c.11478C>T (p.Ser3826=)
c.11337C>T (p.Ser3779=)
c.11433C>T (p.Ser3811=)
c.10364-2492C>T (n.10364-2492C>T)
ClinVar
2g.178740852G>CCA349615360TTNc.10361-2492C>G (n.10361-2492C>G)
c.11868C>G (p.Ser3956Arg)
c.11667C>G (p.Ser3889Arg)
c.11292C>G (p.Ser3764Arg)
c.12381C>G (p.Ser4127Arg)
c.11430C>G (p.Ser3810Arg)
c.11478C>G (p.Ser3826Arg)
c.11337C>G (p.Ser3779Arg)
c.11433C>G (p.Ser3811Arg)
c.10364-2492C>G (n.10364-2492C>G)
2g.178740852G>TCA349615361TTNc.10361-2492C>A (n.10361-2492C>A)
c.11868C>A (p.Ser3956Arg)
c.11667C>A (p.Ser3889Arg)
c.11292C>A (p.Ser3764Arg)
c.12381C>A (p.Ser4127Arg)
c.11430C>A (p.Ser3810Arg)
c.11478C>A (p.Ser3826Arg)
c.11337C>A (p.Ser3779Arg)
c.11433C>A (p.Ser3811Arg)
c.10364-2492C>A (n.10364-2492C>A)
2g.178740853C>ACA349615363TTNc.10361-2493G>T (n.10361-2493G>T)
c.11867G>T (p.Ser3956Ile)
c.11666G>T (p.Ser3889Ile)
c.11291G>T (p.Ser3764Ile)
c.12380G>T (p.Ser4127Ile)
c.11429G>T (p.Ser3810Ile)
c.11477G>T (p.Ser3826Ile)
c.11336G>T (p.Ser3779Ile)
c.11432G>T (p.Ser3811Ile)
c.10364-2493G>T (n.10364-2493G>T)
2g.178740853C>GCA349615364TTNc.10361-2493G>C (n.10361-2493G>C)
c.11867G>C (p.Ser3956Thr)
c.11666G>C (p.Ser3889Thr)
c.11291G>C (p.Ser3764Thr)
c.12380G>C (p.Ser4127Thr)
c.11429G>C (p.Ser3810Thr)
c.11477G>C (p.Ser3826Thr)
c.11336G>C (p.Ser3779Thr)
c.11432G>C (p.Ser3811Thr)
c.10364-2493G>C (n.10364-2493G>C)
2g.178740853C>TCA349615366TTNc.10361-2493G>A (n.10361-2493G>A)
c.11867G>A (p.Ser3956Asn)
c.11666G>A (p.Ser3889Asn)
c.11291G>A (p.Ser3764Asn)
c.12380G>A (p.Ser4127Asn)
c.11429G>A (p.Ser3810Asn)
c.11477G>A (p.Ser3826Asn)
c.11336G>A (p.Ser3779Asn)
c.11432G>A (p.Ser3811Asn)
c.10364-2493G>A (n.10364-2493G>A)

Number of alleles fetched