Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23333945C>ACA387513345SACSc.9490G>T (p.Val3164Phe)
c.9931G>T (p.Val3311Phe)
c.9958G>T (p.Val3320Phe)
c.9982G>T (p.Val3328Phe)
c.9949G>T (p.Val3317Phe)
c.9922G>T (p.Val3308Phe)
c.7681G>T (p.Val2561Phe)
n.1058-4461G>T (p.=)
n.2130-4461G>T
13g.23333945C>GCA387513346SACSc.9490G>C (p.Val3164Leu)
c.9931G>C (p.Val3311Leu)
c.9958G>C (p.Val3320Leu)
c.9982G>C (p.Val3328Leu)
c.9949G>C (p.Val3317Leu)
c.9922G>C (p.Val3308Leu)
c.7681G>C (p.Val2561Leu)
n.1058-4461G>C (p.=)
n.2130-4461G>C
13g.23333945C>TCA387513347SACSc.9490G>A (p.Val3164Ile)
c.9931G>A (p.Val3311Ile)
c.9958G>A (p.Val3320Ile)
c.9982G>A (p.Val3328Ile)
c.9949G>A (p.Val3317Ile)
c.9922G>A (p.Val3308Ile)
c.7681G>A (p.Val2561Ile)
n.1058-4461G>A (p.=)
n.2130-4461G>A
13g.23333946T>ACA483158943SACSc.9489A>T (p.Ala3163=)
c.9930A>T (p.Ala3310=)
c.9957A>T (p.Ala3319=)
c.9981A>T (p.Ala3327=)
c.9948A>T (p.Ala3316=)
c.9921A>T (p.Ala3307=)
c.7680A>T (p.Ala2560=)
n.1058-4462A>T (p.=)
n.2130-4462A>T
13g.23333946T>CCA483158942SACSc.9489A>G (p.Ala3163=)
c.9930A>G (p.Ala3310=)
c.9957A>G (p.Ala3319=)
c.9981A>G (p.Ala3327=)
c.9948A>G (p.Ala3316=)
c.9921A>G (p.Ala3307=)
c.7680A>G (p.Ala2560=)
n.1058-4462A>G (p.=)
n.2130-4462A>G
13g.23333946T>GCA483158941SACSc.9489A>C (p.Ala3163=)
c.9930A>C (p.Ala3310=)
c.9957A>C (p.Ala3319=)
c.9981A>C (p.Ala3327=)
c.9948A>C (p.Ala3316=)
c.9921A>C (p.Ala3307=)
c.7680A>C (p.Ala2560=)
n.1058-4462A>C (p.=)
n.2130-4462A>C
13g.23333947G>ACA387513348SACSc.9488C>T (p.Ala3163Val)
c.9929C>T (p.Ala3310Val)
c.9956C>T (p.Ala3319Val)
c.9980C>T (p.Ala3327Val)
c.9947C>T (p.Ala3316Val)
c.9920C>T (p.Ala3307Val)
c.7679C>T (p.Ala2560Val)
n.1058-4463C>T (p.=)
n.2130-4463C>T
13g.23333947G>CCA387513349SACSc.9488C>G (p.Ala3163Gly)
c.9929C>G (p.Ala3310Gly)
c.9956C>G (p.Ala3319Gly)
c.9980C>G (p.Ala3327Gly)
c.9947C>G (p.Ala3316Gly)
c.9920C>G (p.Ala3307Gly)
c.7679C>G (p.Ala2560Gly)
n.1058-4463C>G (p.=)
n.2130-4463C>G
13g.23333947G>TCA387513350SACSc.9488C>A (p.Ala3163Glu)
c.9929C>A (p.Ala3310Glu)
c.9956C>A (p.Ala3319Glu)
c.9980C>A (p.Ala3327Glu)
c.9947C>A (p.Ala3316Glu)
c.9920C>A (p.Ala3307Glu)
c.7679C>A (p.Ala2560Glu)
n.1058-4463C>A (p.=)
n.2130-4463C>A
13g.23333948C>ACA387513351SACSc.9487G>T (p.Ala3163Ser)
c.9928G>T (p.Ala3310Ser)
c.9955G>T (p.Ala3319Ser)
c.9979G>T (p.Ala3327Ser)
c.9946G>T (p.Ala3316Ser)
c.9919G>T (p.Ala3307Ser)
c.7678G>T (p.Ala2560Ser)
n.1058-4464G>T (p.=)
n.2130-4464G>T
13g.23333948C>GCA387513352SACSc.9487G>C (p.Ala3163Pro)
c.9928G>C (p.Ala3310Pro)
c.9955G>C (p.Ala3319Pro)
c.9979G>C (p.Ala3327Pro)
c.9946G>C (p.Ala3316Pro)
c.9919G>C (p.Ala3307Pro)
c.7678G>C (p.Ala2560Pro)
n.1058-4464G>C (p.=)
n.2130-4464G>C
13g.23333948C>TCA387513353SACSc.9487G>A (p.Ala3163Thr)
c.9928G>A (p.Ala3310Thr)
c.9955G>A (p.Ala3319Thr)
c.9979G>A (p.Ala3327Thr)
c.9946G>A (p.Ala3316Thr)
c.9919G>A (p.Ala3307Thr)
c.7678G>A (p.Ala2560Thr)
n.1058-4464G>A (p.=)
n.2130-4464G>A
13g.23333949A>CCA6910537SACSc.9486T>G (p.Ile3162Met)
c.9927T>G (p.Ile3309Met)
c.9954T>G (p.Ile3318Met)
c.9978T>G (p.Ile3326Met)
c.9945T>G (p.Ile3315Met)
c.9918T>G (p.Ile3306Met)
c.7677T>G (p.Ile2559Met)
n.1058-4465T>G (p.=)
n.2130-4465T>G
dbSNP ExAC gnomAD
13g.23333949A>GCA246652904SACSc.9486T>C (p.Ile3162=)
c.9927T>C (p.Ile3309=)
c.9954T>C (p.Ile3318=)
c.9978T>C (p.Ile3326=)
c.9945T>C (p.Ile3315=)
c.9918T>C (p.Ile3306=)
c.7677T>C (p.Ile2559=)
n.1058-4465T>C (p.=)
n.2130-4465T>C
dbSNP gnomAD
13g.23333949A>TCA483158945SACSc.9486T>A (p.Ile3162=)
c.9927T>A (p.Ile3309=)
c.9954T>A (p.Ile3318=)
c.9978T>A (p.Ile3326=)
c.9945T>A (p.Ile3315=)
c.9918T>A (p.Ile3306=)
c.7677T>A (p.Ile2559=)
n.1058-4465T>A (p.=)
n.2130-4465T>A
13g.23333950A>CCA387513354SACSc.9485T>G (p.Ile3162Ser)
c.9926T>G (p.Ile3309Ser)
c.9953T>G (p.Ile3318Ser)
c.9977T>G (p.Ile3326Ser)
c.9944T>G (p.Ile3315Ser)
c.9917T>G (p.Ile3306Ser)
c.7676T>G (p.Ile2559Ser)
n.1058-4466T>G (p.=)
n.2130-4466T>G
13g.23333950A>GCA6910538SACSc.9485T>C (p.Ile3162Thr)
c.9926T>C (p.Ile3309Thr)
c.9953T>C (p.Ile3318Thr)
c.9977T>C (p.Ile3326Thr)
c.9944T>C (p.Ile3315Thr)
c.9917T>C (p.Ile3306Thr)
c.7676T>C (p.Ile2559Thr)
n.1058-4466T>C (p.=)
n.2130-4466T>C
dbSNP ExAC gnomAD
13g.23333950A>TCA387513355SACSc.9485T>A (p.Ile3162Asn)
c.9926T>A (p.Ile3309Asn)
c.9953T>A (p.Ile3318Asn)
c.9977T>A (p.Ile3326Asn)
c.9944T>A (p.Ile3315Asn)
c.9917T>A (p.Ile3306Asn)
c.7676T>A (p.Ile2559Asn)
n.1058-4466T>A (p.=)
n.2130-4466T>A
13g.23333951T>ACA387513356SACSc.9484A>T (p.Ile3162Phe)
c.9925A>T (p.Ile3309Phe)
c.9952A>T (p.Ile3318Phe)
c.9976A>T (p.Ile3326Phe)
c.9943A>T (p.Ile3315Phe)
c.9916A>T (p.Ile3306Phe)
c.7675A>T (p.Ile2559Phe)
n.1058-4467A>T (p.=)
n.2130-4467A>T
13g.23333951T>CCA387513358SACSc.9484A>G (p.Ile3162Val)
c.9925A>G (p.Ile3309Val)
c.9952A>G (p.Ile3318Val)
c.9976A>G (p.Ile3326Val)
c.9943A>G (p.Ile3315Val)
c.9916A>G (p.Ile3306Val)
c.7675A>G (p.Ile2559Val)
n.1058-4467A>G (p.=)
n.2130-4467A>G
gnomAD
13g.23333951T>GCA387513357SACSc.9484A>C (p.Ile3162Leu)
c.9925A>C (p.Ile3309Leu)
c.9952A>C (p.Ile3318Leu)
c.9976A>C (p.Ile3326Leu)
c.9943A>C (p.Ile3315Leu)
c.9916A>C (p.Ile3306Leu)
c.7675A>C (p.Ile2559Leu)
n.1058-4467A>C (p.=)
n.2130-4467A>C
13g.23333952G>ACA483158946SACSc.9483C>T (p.His3161=)
c.9924C>T (p.His3308=)
c.9951C>T (p.His3317=)
c.9975C>T (p.His3325=)
c.9942C>T (p.His3314=)
c.9915C>T (p.His3305=)
c.7674C>T (p.His2558=)
n.1058-4468C>T (p.=)
n.2130-4468C>T
13g.23333952G>CCA387513359SACSc.9483C>G (p.His3161Gln)
c.9924C>G (p.His3308Gln)
c.9951C>G (p.His3317Gln)
c.9975C>G (p.His3325Gln)
c.9942C>G (p.His3314Gln)
c.9915C>G (p.His3305Gln)
c.7674C>G (p.His2558Gln)
n.1058-4468C>G (p.=)
n.2130-4468C>G
13g.23333952G>TCA387513360SACSc.9483C>A (p.His3161Gln)
c.9924C>A (p.His3308Gln)
c.9951C>A (p.His3317Gln)
c.9975C>A (p.His3325Gln)
c.9942C>A (p.His3314Gln)
c.9915C>A (p.His3305Gln)
c.7674C>A (p.His2558Gln)
n.1058-4468C>A (p.=)
n.2130-4468C>A
13g.23333953T>ACA387513361SACSc.9482A>T (p.His3161Leu)
c.9923A>T (p.His3308Leu)
c.9950A>T (p.His3317Leu)
c.9974A>T (p.His3325Leu)
c.9941A>T (p.His3314Leu)
c.9914A>T (p.His3305Leu)
c.7673A>T (p.His2558Leu)
n.1058-4469A>T (p.=)
n.2130-4469A>T
13g.23333953T>CCA387513362SACSc.9482A>G (p.His3161Arg)
c.9923A>G (p.His3308Arg)
c.9950A>G (p.His3317Arg)
c.9974A>G (p.His3325Arg)
c.9941A>G (p.His3314Arg)
c.9914A>G (p.His3305Arg)
c.7673A>G (p.His2558Arg)
n.1058-4469A>G (p.=)
n.2130-4469A>G
13g.23333953T>GCA387513363SACSc.9482A>C (p.His3161Pro)
c.9923A>C (p.His3308Pro)
c.9950A>C (p.His3317Pro)
c.9974A>C (p.His3325Pro)
c.9941A>C (p.His3314Pro)
c.9914A>C (p.His3305Pro)
c.7673A>C (p.His2558Pro)
n.1058-4469A>C (p.=)
n.2130-4469A>C
13g.23333954G>ACA387513364SACSc.9481C>T (p.His3161Tyr)
c.9922C>T (p.His3308Tyr)
c.9949C>T (p.His3317Tyr)
c.9973C>T (p.His3325Tyr)
c.9940C>T (p.His3314Tyr)
c.9913C>T (p.His3305Tyr)
c.7672C>T (p.His2558Tyr)
n.1058-4470C>T (p.=)
n.2130-4470C>T
13g.23333954G>CCA387513365SACSc.9481C>G (p.His3161Asp)
c.9922C>G (p.His3308Asp)
c.9949C>G (p.His3317Asp)
c.9973C>G (p.His3325Asp)
c.9940C>G (p.His3314Asp)
c.9913C>G (p.His3305Asp)
c.7672C>G (p.His2558Asp)
n.1058-4470C>G (p.=)
n.2130-4470C>G
gnomAD
13g.23333954G>TCA387513366SACSc.9481C>A (p.His3161Asn)
c.9922C>A (p.His3308Asn)
c.9949C>A (p.His3317Asn)
c.9973C>A (p.His3325Asn)
c.9940C>A (p.His3314Asn)
c.9913C>A (p.His3305Asn)
c.7672C>A (p.His2558Asn)
n.1058-4470C>A (p.=)
n.2130-4470C>A
13g.23333955C>ACA387513367SACSc.9480G>T (p.Met3160Ile)
c.9921G>T (p.Met3307Ile)
c.9948G>T (p.Met3316Ile)
c.9972G>T (p.Met3324Ile)
c.9939G>T (p.Met3313Ile)
c.9912G>T (p.Met3304Ile)
c.7671G>T (p.Met2557Ile)
n.1058-4471G>T (p.=)
n.2130-4471G>T
13g.23333955C>GCA387513368SACSc.9480G>C (p.Met3160Ile)
c.9921G>C (p.Met3307Ile)
c.9948G>C (p.Met3316Ile)
c.9972G>C (p.Met3324Ile)
c.9939G>C (p.Met3313Ile)
c.9912G>C (p.Met3304Ile)
c.7671G>C (p.Met2557Ile)
n.1058-4471G>C (p.=)
n.2130-4471G>C
13g.23333955C>TCA387513369SACSc.9480G>A (p.Met3160Ile)
c.9921G>A (p.Met3307Ile)
c.9948G>A (p.Met3316Ile)
c.9972G>A (p.Met3324Ile)
c.9939G>A (p.Met3313Ile)
c.9912G>A (p.Met3304Ile)
c.7671G>A (p.Met2557Ile)
n.1058-4471G>A (p.=)
n.2130-4471G>A
gnomAD
13g.23333956A>CCA387513371SACSc.9479T>G (p.Met3160Arg)
c.9920T>G (p.Met3307Arg)
c.9947T>G (p.Met3316Arg)
c.9971T>G (p.Met3324Arg)
c.9938T>G (p.Met3313Arg)
c.9911T>G (p.Met3304Arg)
c.7670T>G (p.Met2557Arg)
n.1058-4472T>G (p.=)
n.2130-4472T>G
13g.23333956A>GCA387513372SACSc.9479T>C (p.Met3160Thr)
c.9920T>C (p.Met3307Thr)
c.9947T>C (p.Met3316Thr)
c.9971T>C (p.Met3324Thr)
c.9938T>C (p.Met3313Thr)
c.9911T>C (p.Met3304Thr)
c.7670T>C (p.Met2557Thr)
n.1058-4472T>C (p.=)
n.2130-4472T>C
13g.23333956A>TCA387513370SACSc.9479T>A (p.Met3160Lys)
c.9920T>A (p.Met3307Lys)
c.9947T>A (p.Met3316Lys)
c.9971T>A (p.Met3324Lys)
c.9938T>A (p.Met3313Lys)
c.9911T>A (p.Met3304Lys)
c.7670T>A (p.Met2557Lys)
n.1058-4472T>A (p.=)
n.2130-4472T>A
13g.23333957T>ACA387513373SACSc.9478A>T (p.Met3160Leu)
c.9919A>T (p.Met3307Leu)
c.9946A>T (p.Met3316Leu)
c.9970A>T (p.Met3324Leu)
c.9937A>T (p.Met3313Leu)
c.9910A>T (p.Met3304Leu)
c.7669A>T (p.Met2557Leu)
n.1058-4473A>T (p.=)
n.2130-4473A>T
13g.23333957T>CCA6910539SACSc.9478A>G (p.Met3160Val)
c.9919A>G (p.Met3307Val)
c.9946A>G (p.Met3316Val)
c.9970A>G (p.Met3324Val)
c.9937A>G (p.Met3313Val)
c.9910A>G (p.Met3304Val)
c.7669A>G (p.Met2557Val)
n.1058-4473A>G (p.=)
n.2130-4473A>G
dbSNP ExAC gnomAD
13g.23333957T>GCA6910540SACSc.9478A>C (p.Met3160Leu)
c.9919A>C (p.Met3307Leu)
c.9946A>C (p.Met3316Leu)
c.9970A>C (p.Met3324Leu)
c.9937A>C (p.Met3313Leu)
c.9910A>C (p.Met3304Leu)
c.7669A>C (p.Met2557Leu)
n.1058-4473A>C (p.=)
n.2130-4473A>C
dbSNP ExAC gnomAD
13g.23333958A>CCA483159236SACSc.9477T>G (p.Leu3159=)
c.9918T>G (p.Leu3306=)
c.9945T>G (p.Leu3315=)
c.9969T>G (p.Leu3323=)
c.9936T>G (p.Leu3312=)
c.9909T>G (p.Leu3303=)
c.7668T>G (p.Leu2556=)
n.1058-4474T>G (p.=)
n.2130-4474T>G
13g.23333958A>GCA483159237SACSc.9477T>C (p.Leu3159=)
c.9918T>C (p.Leu3306=)
c.9945T>C (p.Leu3315=)
c.9969T>C (p.Leu3323=)
c.9936T>C (p.Leu3312=)
c.9909T>C (p.Leu3303=)
c.7668T>C (p.Leu2556=)
n.1058-4474T>C (p.=)
n.2130-4474T>C
13g.23333958A>TCA483159238SACSc.9477T>A (p.Leu3159=)
c.9918T>A (p.Leu3306=)
c.9945T>A (p.Leu3315=)
c.9969T>A (p.Leu3323=)
c.9936T>A (p.Leu3312=)
c.9909T>A (p.Leu3303=)
c.7668T>A (p.Leu2556=)
n.1058-4474T>A (p.=)
n.2130-4474T>A
13g.23333959A>CCA387513374SACSc.9476T>G (p.Leu3159Arg)
c.9917T>G (p.Leu3306Arg)
c.9944T>G (p.Leu3315Arg)
c.9968T>G (p.Leu3323Arg)
c.9935T>G (p.Leu3312Arg)
c.9908T>G (p.Leu3303Arg)
c.7667T>G (p.Leu2556Arg)
n.1058-4475T>G (p.=)
n.2130-4475T>G
13g.23333959A>GCA387513375SACSc.9476T>C (p.Leu3159Pro)
c.9917T>C (p.Leu3306Pro)
c.9944T>C (p.Leu3315Pro)
c.9968T>C (p.Leu3323Pro)
c.9935T>C (p.Leu3312Pro)
c.9908T>C (p.Leu3303Pro)
c.7667T>C (p.Leu2556Pro)
n.1058-4475T>C (p.=)
n.2130-4475T>C
13g.23333959A>TCA387513376SACSc.9476T>A (p.Leu3159His)
c.9917T>A (p.Leu3306His)
c.9944T>A (p.Leu3315His)
c.9968T>A (p.Leu3323His)
c.9935T>A (p.Leu3312His)
c.9908T>A (p.Leu3303His)
c.7667T>A (p.Leu2556His)
n.1058-4475T>A (p.=)
n.2130-4475T>A
13g.23333960G>ACA387513379SACSc.9475C>T (p.Leu3159Phe)
c.9916C>T (p.Leu3306Phe)
c.9943C>T (p.Leu3315Phe)
c.9967C>T (p.Leu3323Phe)
c.9934C>T (p.Leu3312Phe)
c.9907C>T (p.Leu3303Phe)
c.7666C>T (p.Leu2556Phe)
n.1058-4476C>T (p.=)
n.2130-4476C>T
13g.23333960G>CCA387513377SACSc.9475C>G (p.Leu3159Val)
c.9916C>G (p.Leu3306Val)
c.9943C>G (p.Leu3315Val)
c.9967C>G (p.Leu3323Val)
c.9934C>G (p.Leu3312Val)
c.9907C>G (p.Leu3303Val)
c.7666C>G (p.Leu2556Val)
n.1058-4476C>G (p.=)
n.2130-4476C>G
13g.23333960G>TCA387513378SACSc.9475C>A (p.Leu3159Ile)
c.9916C>A (p.Leu3306Ile)
c.9943C>A (p.Leu3315Ile)
c.9967C>A (p.Leu3323Ile)
c.9934C>A (p.Leu3312Ile)
c.9907C>A (p.Leu3303Ile)
c.7666C>A (p.Leu2556Ile)
n.1058-4476C>A (p.=)
n.2130-4476C>A
13g.23333961G>ACA6910541SACSc.9474C>T (p.Ser3158=)
c.9915C>T (p.Ser3305=)
c.9942C>T (p.Ser3314=)
c.9966C>T (p.Ser3322=)
c.9933C>T (p.Ser3311=)
c.9906C>T (p.Ser3302=)
c.7665C>T (p.Ser2555=)
n.1058-4477C>T (p.=)
n.2130-4477C>T
dbSNP ExAC gnomAD
13g.23333961G>CCA387513380SACSc.9474C>G (p.Ser3158Arg)
c.9915C>G (p.Ser3305Arg)
c.9942C>G (p.Ser3314Arg)
c.9966C>G (p.Ser3322Arg)
c.9933C>G (p.Ser3311Arg)
c.9906C>G (p.Ser3302Arg)
c.7665C>G (p.Ser2555Arg)
n.1058-4477C>G (p.=)
n.2130-4477C>G

Number of alleles fetched