Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23333945C>ACA387513345SACSc.9931G>T (p.Val3311Phe)
c.2186-4461G>T (p.=)
c.2432-4461G>T (p.=)
c.7681G>T (p.Val2561Phe)
n.1058-4461G>T (p.=)
n.2130-4461G>T
c.9490G>T (p.Val3164Phe)
c.9958G>T (p.Val3320Phe)
c.9982G>T (p.Val3328Phe)
c.9949G>T (p.Val3317Phe)
c.9922G>T (p.Val3308Phe)
13g.23333945C>GCA387513346SACSc.9931G>C (p.Val3311Leu)
c.2186-4461G>C (p.=)
c.2432-4461G>C (p.=)
c.7681G>C (p.Val2561Leu)
n.1058-4461G>C (p.=)
n.2130-4461G>C
c.9490G>C (p.Val3164Leu)
c.9958G>C (p.Val3320Leu)
c.9982G>C (p.Val3328Leu)
c.9949G>C (p.Val3317Leu)
c.9922G>C (p.Val3308Leu)
13g.23333945C>TCA387513347SACSc.9931G>A (p.Val3311Ile)
c.2186-4461G>A (p.=)
c.2432-4461G>A (p.=)
c.7681G>A (p.Val2561Ile)
n.1058-4461G>A (p.=)
n.2130-4461G>A
c.9490G>A (p.Val3164Ile)
c.9958G>A (p.Val3320Ile)
c.9982G>A (p.Val3328Ile)
c.9949G>A (p.Val3317Ile)
c.9922G>A (p.Val3308Ile)
13g.23333946T>ACA483158943SACSc.9930A>T (p.Ala3310=)
c.2186-4462A>T (p.=)
c.2432-4462A>T (p.=)
c.7680A>T (p.Ala2560=)
n.1058-4462A>T (p.=)
n.2130-4462A>T
c.9489A>T (p.Ala3163=)
c.9957A>T (p.Ala3319=)
c.9981A>T (p.Ala3327=)
c.9948A>T (p.Ala3316=)
c.9921A>T (p.Ala3307=)
13g.23333946T>CCA483158942SACSc.9930A>G (p.Ala3310=)
c.2186-4462A>G (p.=)
c.2432-4462A>G (p.=)
c.7680A>G (p.Ala2560=)
n.1058-4462A>G (p.=)
n.2130-4462A>G
c.9489A>G (p.Ala3163=)
c.9957A>G (p.Ala3319=)
c.9981A>G (p.Ala3327=)
c.9948A>G (p.Ala3316=)
c.9921A>G (p.Ala3307=)
13g.23333946T>GCA483158941SACSc.9930A>C (p.Ala3310=)
c.2186-4462A>C (p.=)
c.2432-4462A>C (p.=)
c.7680A>C (p.Ala2560=)
n.1058-4462A>C (p.=)
n.2130-4462A>C
c.9489A>C (p.Ala3163=)
c.9957A>C (p.Ala3319=)
c.9981A>C (p.Ala3327=)
c.9948A>C (p.Ala3316=)
c.9921A>C (p.Ala3307=)
13g.23333946T=CA2078633777SACSc.9930A= (p.Ala3310=)
c.2186-4462A= (p.=)
c.2432-4462A= (p.=)
c.7680A= (p.Ala2560=)
n.1058-4462A= (p.=)
n.2130-4462A=
c.9489A= (p.Ala3163=)
c.9957A= (p.Ala3319=)
c.9981A= (p.Ala3327=)
c.9948A= (p.Ala3316=)
c.9921A= (p.Ala3307=)
13g.23333947G>ACA387513348SACSc.9929C>T (p.Ala3310Val)
c.2186-4463C>T (p.=)
c.2432-4463C>T (p.=)
c.7679C>T (p.Ala2560Val)
n.1058-4463C>T (p.=)
n.2130-4463C>T
c.9488C>T (p.Ala3163Val)
c.9956C>T (p.Ala3319Val)
c.9980C>T (p.Ala3327Val)
c.9947C>T (p.Ala3316Val)
c.9920C>T (p.Ala3307Val)
13g.23333947G>CCA387513349SACSc.9929C>G (p.Ala3310Gly)
c.2186-4463C>G (p.=)
c.2432-4463C>G (p.=)
c.7679C>G (p.Ala2560Gly)
n.1058-4463C>G (p.=)
n.2130-4463C>G
c.9488C>G (p.Ala3163Gly)
c.9956C>G (p.Ala3319Gly)
c.9980C>G (p.Ala3327Gly)
c.9947C>G (p.Ala3316Gly)
c.9920C>G (p.Ala3307Gly)
13g.23333947G=CA2078633780SACSc.9929C= (p.Ala3310=)
c.2186-4463C= (p.=)
c.2432-4463C= (p.=)
c.7679C= (p.Ala2560=)
n.1058-4463C= (p.=)
n.2130-4463C=
c.9488C= (p.Ala3163=)
c.9956C= (p.Ala3319=)
c.9980C= (p.Ala3327=)
c.9947C= (p.Ala3316=)
c.9920C= (p.Ala3307=)
13g.23333947G>TCA387513350SACSc.9929C>A (p.Ala3310Glu)
c.2186-4463C>A (p.=)
c.2432-4463C>A (p.=)
c.7679C>A (p.Ala2560Glu)
n.1058-4463C>A (p.=)
n.2130-4463C>A
c.9488C>A (p.Ala3163Glu)
c.9956C>A (p.Ala3319Glu)
c.9980C>A (p.Ala3327Glu)
c.9947C>A (p.Ala3316Glu)
c.9920C>A (p.Ala3307Glu)
13g.23333948C>ACA387513351SACSc.9928G>T (p.Ala3310Ser)
c.2186-4464G>T (p.=)
c.2432-4464G>T (p.=)
c.7678G>T (p.Ala2560Ser)
n.1058-4464G>T (p.=)
n.2130-4464G>T
c.9487G>T (p.Ala3163Ser)
c.9955G>T (p.Ala3319Ser)
c.9979G>T (p.Ala3327Ser)
c.9946G>T (p.Ala3316Ser)
c.9919G>T (p.Ala3307Ser)
13g.23333948C>GCA387513352SACSc.9928G>C (p.Ala3310Pro)
c.2186-4464G>C (p.=)
c.2432-4464G>C (p.=)
c.7678G>C (p.Ala2560Pro)
n.1058-4464G>C (p.=)
n.2130-4464G>C
c.9487G>C (p.Ala3163Pro)
c.9955G>C (p.Ala3319Pro)
c.9979G>C (p.Ala3327Pro)
c.9946G>C (p.Ala3316Pro)
c.9919G>C (p.Ala3307Pro)
13g.23333948C>TCA387513353SACSc.9928G>A (p.Ala3310Thr)
c.2186-4464G>A (p.=)
c.2432-4464G>A (p.=)
c.7678G>A (p.Ala2560Thr)
n.1058-4464G>A (p.=)
n.2130-4464G>A
c.9487G>A (p.Ala3163Thr)
c.9955G>A (p.Ala3319Thr)
c.9979G>A (p.Ala3327Thr)
c.9946G>A (p.Ala3316Thr)
c.9919G>A (p.Ala3307Thr)
13g.23333949A=CA2078633784SACSc.9927T= (p.Ile3309=)
c.2186-4465T= (p.=)
c.2432-4465T= (p.=)
c.7677T= (p.Ile2559=)
n.1058-4465T= (p.=)
n.2130-4465T=
c.9486T= (p.Ile3162=)
c.9954T= (p.Ile3318=)
c.9978T= (p.Ile3326=)
c.9945T= (p.Ile3315=)
c.9918T= (p.Ile3306=)
13g.23333949A>CCA6910537SACSc.9927T>G (p.Ile3309Met)
c.2186-4465T>G (p.=)
c.2432-4465T>G (p.=)
c.7677T>G (p.Ile2559Met)
n.1058-4465T>G (p.=)
n.2130-4465T>G
c.9486T>G (p.Ile3162Met)
c.9954T>G (p.Ile3318Met)
c.9978T>G (p.Ile3326Met)
c.9945T>G (p.Ile3315Met)
c.9918T>G (p.Ile3306Met)
dbSNP ExAC gnomAD
13g.23333949A>GCA246652904SACSc.9927T>C (p.Ile3309=)
c.2186-4465T>C (p.=)
c.2432-4465T>C (p.=)
c.7677T>C (p.Ile2559=)
n.1058-4465T>C (p.=)
n.2130-4465T>C
c.9486T>C (p.Ile3162=)
c.9954T>C (p.Ile3318=)
c.9978T>C (p.Ile3326=)
c.9945T>C (p.Ile3315=)
c.9918T>C (p.Ile3306=)
ClinVar dbSNP gnomAD
13g.23333949A>TCA483158945SACSc.9927T>A (p.Ile3309=)
c.2186-4465T>A (p.=)
c.2432-4465T>A (p.=)
c.7677T>A (p.Ile2559=)
n.1058-4465T>A (p.=)
n.2130-4465T>A
c.9486T>A (p.Ile3162=)
c.9954T>A (p.Ile3318=)
c.9978T>A (p.Ile3326=)
c.9945T>A (p.Ile3315=)
c.9918T>A (p.Ile3306=)
13g.23333950A=CA2078633787SACSc.9926T= (p.Ile3309=)
c.2186-4466T= (p.=)
c.2432-4466T= (p.=)
c.7676T= (p.Ile2559=)
n.1058-4466T= (p.=)
n.2130-4466T=
c.9485T= (p.Ile3162=)
c.9953T= (p.Ile3318=)
c.9977T= (p.Ile3326=)
c.9944T= (p.Ile3315=)
c.9917T= (p.Ile3306=)
13g.23333950A>CCA387513354SACSc.9926T>G (p.Ile3309Ser)
c.2186-4466T>G (p.=)
c.2432-4466T>G (p.=)
c.7676T>G (p.Ile2559Ser)
n.1058-4466T>G (p.=)
n.2130-4466T>G
c.9485T>G (p.Ile3162Ser)
c.9953T>G (p.Ile3318Ser)
c.9977T>G (p.Ile3326Ser)
c.9944T>G (p.Ile3315Ser)
c.9917T>G (p.Ile3306Ser)
13g.23333950A>GCA6910538SACSc.9926T>C (p.Ile3309Thr)
c.2186-4466T>C (p.=)
c.2432-4466T>C (p.=)
c.7676T>C (p.Ile2559Thr)
n.1058-4466T>C (p.=)
n.2130-4466T>C
c.9485T>C (p.Ile3162Thr)
c.9953T>C (p.Ile3318Thr)
c.9977T>C (p.Ile3326Thr)
c.9944T>C (p.Ile3315Thr)
c.9917T>C (p.Ile3306Thr)
dbSNP ExAC gnomAD
13g.23333950A>TCA387513355SACSc.9926T>A (p.Ile3309Asn)
c.2186-4466T>A (p.=)
c.2432-4466T>A (p.=)
c.7676T>A (p.Ile2559Asn)
n.1058-4466T>A (p.=)
n.2130-4466T>A
c.9485T>A (p.Ile3162Asn)
c.9953T>A (p.Ile3318Asn)
c.9977T>A (p.Ile3326Asn)
c.9944T>A (p.Ile3315Asn)
c.9917T>A (p.Ile3306Asn)
13g.23333951T>ACA387513356SACSc.9925A>T (p.Ile3309Phe)
c.2186-4467A>T (p.=)
c.2432-4467A>T (p.=)
c.7675A>T (p.Ile2559Phe)
n.1058-4467A>T (p.=)
n.2130-4467A>T
c.9484A>T (p.Ile3162Phe)
c.9952A>T (p.Ile3318Phe)
c.9976A>T (p.Ile3326Phe)
c.9943A>T (p.Ile3315Phe)
c.9916A>T (p.Ile3306Phe)
13g.23333951T>CCA387513358SACSc.9925A>G (p.Ile3309Val)
c.2186-4467A>G (p.=)
c.2432-4467A>G (p.=)
c.7675A>G (p.Ile2559Val)
n.1058-4467A>G (p.=)
n.2130-4467A>G
c.9484A>G (p.Ile3162Val)
c.9952A>G (p.Ile3318Val)
c.9976A>G (p.Ile3326Val)
c.9943A>G (p.Ile3315Val)
c.9916A>G (p.Ile3306Val)
gnomAD
13g.23333951T>GCA387513357SACSc.9925A>C (p.Ile3309Leu)
c.2186-4467A>C (p.=)
c.2432-4467A>C (p.=)
c.7675A>C (p.Ile2559Leu)
n.1058-4467A>C (p.=)
n.2130-4467A>C
c.9484A>C (p.Ile3162Leu)
c.9952A>C (p.Ile3318Leu)
c.9976A>C (p.Ile3326Leu)
c.9943A>C (p.Ile3315Leu)
c.9916A>C (p.Ile3306Leu)
13g.23333951T=CA2078633792SACSc.9925A= (p.Ile3309=)
c.2186-4467A= (p.=)
c.2432-4467A= (p.=)
c.7675A= (p.Ile2559=)
n.1058-4467A= (p.=)
n.2130-4467A=
c.9484A= (p.Ile3162=)
c.9952A= (p.Ile3318=)
c.9976A= (p.Ile3326=)
c.9943A= (p.Ile3315=)
c.9916A= (p.Ile3306=)
13g.23333952G>ACA483158946SACSc.9924C>T (p.His3308=)
c.2186-4468C>T (p.=)
c.2432-4468C>T (p.=)
c.7674C>T (p.His2558=)
n.1058-4468C>T (p.=)
n.2130-4468C>T
c.9483C>T (p.His3161=)
c.9951C>T (p.His3317=)
c.9975C>T (p.His3325=)
c.9942C>T (p.His3314=)
c.9915C>T (p.His3305=)
13g.23333952G>CCA387513359SACSc.9924C>G (p.His3308Gln)
c.2186-4468C>G (p.=)
c.2432-4468C>G (p.=)
c.7674C>G (p.His2558Gln)
n.1058-4468C>G (p.=)
n.2130-4468C>G
c.9483C>G (p.His3161Gln)
c.9951C>G (p.His3317Gln)
c.9975C>G (p.His3325Gln)
c.9942C>G (p.His3314Gln)
c.9915C>G (p.His3305Gln)
13g.23333952G>TCA387513360SACSc.9924C>A (p.His3308Gln)
c.2186-4468C>A (p.=)
c.2432-4468C>A (p.=)
c.7674C>A (p.His2558Gln)
n.1058-4468C>A (p.=)
n.2130-4468C>A
c.9483C>A (p.His3161Gln)
c.9951C>A (p.His3317Gln)
c.9975C>A (p.His3325Gln)
c.9942C>A (p.His3314Gln)
c.9915C>A (p.His3305Gln)
13g.23333953T>ACA387513361SACSc.9923A>T (p.His3308Leu)
c.2186-4469A>T (p.=)
c.2432-4469A>T (p.=)
c.7673A>T (p.His2558Leu)
n.1058-4469A>T (p.=)
n.2130-4469A>T
c.9482A>T (p.His3161Leu)
c.9950A>T (p.His3317Leu)
c.9974A>T (p.His3325Leu)
c.9941A>T (p.His3314Leu)
c.9914A>T (p.His3305Leu)
13g.23333953T>CCA387513362SACSc.9923A>G (p.His3308Arg)
c.2186-4469A>G (p.=)
c.2432-4469A>G (p.=)
c.7673A>G (p.His2558Arg)
n.1058-4469A>G (p.=)
n.2130-4469A>G
c.9482A>G (p.His3161Arg)
c.9950A>G (p.His3317Arg)
c.9974A>G (p.His3325Arg)
c.9941A>G (p.His3314Arg)
c.9914A>G (p.His3305Arg)
13g.23333953T>GCA387513363SACSc.9923A>C (p.His3308Pro)
c.2186-4469A>C (p.=)
c.2432-4469A>C (p.=)
c.7673A>C (p.His2558Pro)
n.1058-4469A>C (p.=)
n.2130-4469A>C
c.9482A>C (p.His3161Pro)
c.9950A>C (p.His3317Pro)
c.9974A>C (p.His3325Pro)
c.9941A>C (p.His3314Pro)
c.9914A>C (p.His3305Pro)
13g.23333954G>ACA387513364SACSc.9922C>T (p.His3308Tyr)
c.2186-4470C>T (p.=)
c.2432-4470C>T (p.=)
c.7672C>T (p.His2558Tyr)
n.1058-4470C>T (p.=)
n.2130-4470C>T
c.9481C>T (p.His3161Tyr)
c.9949C>T (p.His3317Tyr)
c.9973C>T (p.His3325Tyr)
c.9940C>T (p.His3314Tyr)
c.9913C>T (p.His3305Tyr)
13g.23333954G>CCA387513365SACSc.9922C>G (p.His3308Asp)
c.2186-4470C>G (p.=)
c.2432-4470C>G (p.=)
c.7672C>G (p.His2558Asp)
n.1058-4470C>G (p.=)
n.2130-4470C>G
c.9481C>G (p.His3161Asp)
c.9949C>G (p.His3317Asp)
c.9973C>G (p.His3325Asp)
c.9940C>G (p.His3314Asp)
c.9913C>G (p.His3305Asp)
gnomAD
13g.23333954G=CA2078633795SACSc.9922C= (p.His3308=)
c.2186-4470C= (p.=)
c.2432-4470C= (p.=)
c.7672C= (p.His2558=)
n.1058-4470C= (p.=)
n.2130-4470C=
c.9481C= (p.His3161=)
c.9949C= (p.His3317=)
c.9973C= (p.His3325=)
c.9940C= (p.His3314=)
c.9913C= (p.His3305=)
13g.23333954G>TCA387513366SACSc.9922C>A (p.His3308Asn)
c.2186-4470C>A (p.=)
c.2432-4470C>A (p.=)
c.7672C>A (p.His2558Asn)
n.1058-4470C>A (p.=)
n.2130-4470C>A
c.9481C>A (p.His3161Asn)
c.9949C>A (p.His3317Asn)
c.9973C>A (p.His3325Asn)
c.9940C>A (p.His3314Asn)
c.9913C>A (p.His3305Asn)
13g.23333955C>ACA387513367SACSc.9921G>T (p.Met3307Ile)
c.2186-4471G>T (p.=)
c.2432-4471G>T (p.=)
c.7671G>T (p.Met2557Ile)
n.1058-4471G>T (p.=)
n.2130-4471G>T
c.9480G>T (p.Met3160Ile)
c.9948G>T (p.Met3316Ile)
c.9972G>T (p.Met3324Ile)
c.9939G>T (p.Met3313Ile)
c.9912G>T (p.Met3304Ile)
13g.23333955C=CA2078633797SACSc.9921G= (p.Met3307=)
c.2186-4471G= (p.=)
c.2432-4471G= (p.=)
c.7671G= (p.Met2557=)
n.1058-4471G= (p.=)
n.2130-4471G=
c.9480G= (p.Met3160=)
c.9948G= (p.Met3316=)
c.9972G= (p.Met3324=)
c.9939G= (p.Met3313=)
c.9912G= (p.Met3304=)
13g.23333955C>GCA387513368SACSc.9921G>C (p.Met3307Ile)
c.2186-4471G>C (p.=)
c.2432-4471G>C (p.=)
c.7671G>C (p.Met2557Ile)
n.1058-4471G>C (p.=)
n.2130-4471G>C
c.9480G>C (p.Met3160Ile)
c.9948G>C (p.Met3316Ile)
c.9972G>C (p.Met3324Ile)
c.9939G>C (p.Met3313Ile)
c.9912G>C (p.Met3304Ile)
13g.23333955C>TCA387513369SACSc.9921G>A (p.Met3307Ile)
c.2186-4471G>A (p.=)
c.2432-4471G>A (p.=)
c.7671G>A (p.Met2557Ile)
n.1058-4471G>A (p.=)
n.2130-4471G>A
c.9480G>A (p.Met3160Ile)
c.9948G>A (p.Met3316Ile)
c.9972G>A (p.Met3324Ile)
c.9939G>A (p.Met3313Ile)
c.9912G>A (p.Met3304Ile)
gnomAD
13g.23333956A>CCA387513371SACSc.9920T>G (p.Met3307Arg)
c.2186-4472T>G (p.=)
c.2432-4472T>G (p.=)
c.7670T>G (p.Met2557Arg)
n.1058-4472T>G (p.=)
n.2130-4472T>G
c.9479T>G (p.Met3160Arg)
c.9947T>G (p.Met3316Arg)
c.9971T>G (p.Met3324Arg)
c.9938T>G (p.Met3313Arg)
c.9911T>G (p.Met3304Arg)
13g.23333956A>GCA387513372SACSc.9920T>C (p.Met3307Thr)
c.2186-4472T>C (p.=)
c.2432-4472T>C (p.=)
c.7670T>C (p.Met2557Thr)
n.1058-4472T>C (p.=)
n.2130-4472T>C
c.9479T>C (p.Met3160Thr)
c.9947T>C (p.Met3316Thr)
c.9971T>C (p.Met3324Thr)
c.9938T>C (p.Met3313Thr)
c.9911T>C (p.Met3304Thr)
13g.23333956A>TCA387513370SACSc.9920T>A (p.Met3307Lys)
c.2186-4472T>A (p.=)
c.2432-4472T>A (p.=)
c.7670T>A (p.Met2557Lys)
n.1058-4472T>A (p.=)
n.2130-4472T>A
c.9479T>A (p.Met3160Lys)
c.9947T>A (p.Met3316Lys)
c.9971T>A (p.Met3324Lys)
c.9938T>A (p.Met3313Lys)
c.9911T>A (p.Met3304Lys)
13g.23333957T>ACA387513373SACSc.9919A>T (p.Met3307Leu)
c.2186-4473A>T (p.=)
c.2432-4473A>T (p.=)
c.7669A>T (p.Met2557Leu)
n.1058-4473A>T (p.=)
n.2130-4473A>T
c.9478A>T (p.Met3160Leu)
c.9946A>T (p.Met3316Leu)
c.9970A>T (p.Met3324Leu)
c.9937A>T (p.Met3313Leu)
c.9910A>T (p.Met3304Leu)
13g.23333957T>CCA6910539SACSc.9919A>G (p.Met3307Val)
c.2186-4473A>G (p.=)
c.2432-4473A>G (p.=)
c.7669A>G (p.Met2557Val)
n.1058-4473A>G (p.=)
n.2130-4473A>G
c.9478A>G (p.Met3160Val)
c.9946A>G (p.Met3316Val)
c.9970A>G (p.Met3324Val)
c.9937A>G (p.Met3313Val)
c.9910A>G (p.Met3304Val)
dbSNP ExAC gnomAD
13g.23333957T>GCA6910540SACSc.9919A>C (p.Met3307Leu)
c.2186-4473A>C (p.=)
c.2432-4473A>C (p.=)
c.7669A>C (p.Met2557Leu)
n.1058-4473A>C (p.=)
n.2130-4473A>C
c.9478A>C (p.Met3160Leu)
c.9946A>C (p.Met3316Leu)
c.9970A>C (p.Met3324Leu)
c.9937A>C (p.Met3313Leu)
c.9910A>C (p.Met3304Leu)
dbSNP ExAC gnomAD
13g.23333957T=CA2078633799SACSc.9919A= (p.Met3307=)
c.2186-4473A= (p.=)
c.2432-4473A= (p.=)
c.7669A= (p.Met2557=)
n.1058-4473A= (p.=)
n.2130-4473A=
c.9478A= (p.Met3160=)
c.9946A= (p.Met3316=)
c.9970A= (p.Met3324=)
c.9937A= (p.Met3313=)
c.9910A= (p.Met3304=)
13g.23333958A>CCA483159236SACSc.9918T>G (p.Leu3306=)
c.2186-4474T>G (p.=)
c.2432-4474T>G (p.=)
c.7668T>G (p.Leu2556=)
n.1058-4474T>G (p.=)
n.2130-4474T>G
c.9477T>G (p.Leu3159=)
c.9945T>G (p.Leu3315=)
c.9969T>G (p.Leu3323=)
c.9936T>G (p.Leu3312=)
c.9909T>G (p.Leu3303=)
13g.23333958A>GCA483159237SACSc.9918T>C (p.Leu3306=)
c.2186-4474T>C (p.=)
c.2432-4474T>C (p.=)
c.7668T>C (p.Leu2556=)
n.1058-4474T>C (p.=)
n.2130-4474T>C
c.9477T>C (p.Leu3159=)
c.9945T>C (p.Leu3315=)
c.9969T>C (p.Leu3323=)
c.9936T>C (p.Leu3312=)
c.9909T>C (p.Leu3303=)
13g.23333958A>TCA483159238SACSc.9918T>A (p.Leu3306=)
c.2186-4474T>A (p.=)
c.2432-4474T>A (p.=)
c.7668T>A (p.Leu2556=)
n.1058-4474T>A (p.=)
n.2130-4474T>A
c.9477T>A (p.Leu3159=)
c.9945T>A (p.Leu3315=)
c.9969T>A (p.Leu3323=)
c.9936T>A (p.Leu3312=)
c.9909T>A (p.Leu3303=)

Number of alleles fetched