Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23333869T>ACA387513170SACSc.9566A>T (p.Lys3189Ile)
c.10007A>T (p.Lys3336Ile)
c.10034A>T (p.Lys3345Ile)
c.10058A>T (p.Lys3353Ile)
c.10025A>T (p.Lys3342Ile)
c.9998A>T (p.Lys3333Ile)
c.7757A>T (p.Lys2586Ile)
n.1058-4385A>T (p.=)
n.2130-4385A>T
13g.23333869T>CCA387513171SACSc.9566A>G (p.Lys3189Arg)
c.10007A>G (p.Lys3336Arg)
c.10034A>G (p.Lys3345Arg)
c.10058A>G (p.Lys3353Arg)
c.10025A>G (p.Lys3342Arg)
c.9998A>G (p.Lys3333Arg)
c.7757A>G (p.Lys2586Arg)
n.1058-4385A>G (p.=)
n.2130-4385A>G
13g.23333869T>GCA387513172SACSc.9566A>C (p.Lys3189Thr)
c.10007A>C (p.Lys3336Thr)
c.10034A>C (p.Lys3345Thr)
c.10058A>C (p.Lys3353Thr)
c.10025A>C (p.Lys3342Thr)
c.9998A>C (p.Lys3333Thr)
c.7757A>C (p.Lys2586Thr)
n.1058-4385A>C (p.=)
n.2130-4385A>C
13g.23333870T>ACA387513173SACSc.9565A>T (p.Lys3189Ter)
c.10006A>T (p.Lys3336Ter)
c.10033A>T (p.Lys3345Ter)
c.10057A>T (p.Lys3353Ter)
c.10024A>T (p.Lys3342Ter)
c.9997A>T (p.Lys3333Ter)
c.7756A>T (p.Lys2586Ter)
n.1058-4386A>T (p.=)
n.2130-4386A>T
13g.23333870T>CCA387513174SACSc.9565A>G (p.Lys3189Glu)
c.10006A>G (p.Lys3336Glu)
c.10033A>G (p.Lys3345Glu)
c.10057A>G (p.Lys3353Glu)
c.10024A>G (p.Lys3342Glu)
c.9997A>G (p.Lys3333Glu)
c.7756A>G (p.Lys2586Glu)
n.1058-4386A>G (p.=)
n.2130-4386A>G
13g.23333870T>GCA387513175SACSc.9565A>C (p.Lys3189Gln)
c.10006A>C (p.Lys3336Gln)
c.10033A>C (p.Lys3345Gln)
c.10057A>C (p.Lys3353Gln)
c.10024A>C (p.Lys3342Gln)
c.9997A>C (p.Lys3333Gln)
c.7756A>C (p.Lys2586Gln)
n.1058-4386A>C (p.=)
n.2130-4386A>C
13g.23333871G>ACA483158865SACSc.9564C>T (p.Asn3188=)
c.10005C>T (p.Asn3335=)
c.10032C>T (p.Asn3344=)
c.10056C>T (p.Asn3352=)
c.10023C>T (p.Asn3341=)
c.9996C>T (p.Asn3332=)
c.7755C>T (p.Asn2585=)
n.1058-4387C>T (p.=)
n.2130-4387C>T
13g.23333871G>CCA387513176SACSc.9564C>G (p.Asn3188Lys)
c.10005C>G (p.Asn3335Lys)
c.10032C>G (p.Asn3344Lys)
c.10056C>G (p.Asn3352Lys)
c.10023C>G (p.Asn3341Lys)
c.9996C>G (p.Asn3332Lys)
c.7755C>G (p.Asn2585Lys)
n.1058-4387C>G (p.=)
n.2130-4387C>G
13g.23333871G>TCA387513177SACSc.9564C>A (p.Asn3188Lys)
c.10005C>A (p.Asn3335Lys)
c.10032C>A (p.Asn3344Lys)
c.10056C>A (p.Asn3352Lys)
c.10023C>A (p.Asn3341Lys)
c.9996C>A (p.Asn3332Lys)
c.7755C>A (p.Asn2585Lys)
n.1058-4387C>A (p.=)
n.2130-4387C>A
13g.23333872T>ACA387513179SACSc.9563A>T (p.Asn3188Ile)
c.10004A>T (p.Asn3335Ile)
c.10031A>T (p.Asn3344Ile)
c.10055A>T (p.Asn3352Ile)
c.10022A>T (p.Asn3341Ile)
c.9995A>T (p.Asn3332Ile)
c.7754A>T (p.Asn2585Ile)
n.1058-4388A>T (p.=)
n.2130-4388A>T
13g.23333872T>CCA387513180SACSc.9563A>G (p.Asn3188Ser)
c.10004A>G (p.Asn3335Ser)
c.10031A>G (p.Asn3344Ser)
c.10055A>G (p.Asn3352Ser)
c.10022A>G (p.Asn3341Ser)
c.9995A>G (p.Asn3332Ser)
c.7754A>G (p.Asn2585Ser)
n.1058-4388A>G (p.=)
n.2130-4388A>G
13g.23333872T>GCA387513178SACSc.9563A>C (p.Asn3188Thr)
c.10004A>C (p.Asn3335Thr)
c.10031A>C (p.Asn3344Thr)
c.10055A>C (p.Asn3352Thr)
c.10022A>C (p.Asn3341Thr)
c.9995A>C (p.Asn3332Thr)
c.7754A>C (p.Asn2585Thr)
n.1058-4388A>C (p.=)
n.2130-4388A>C
13g.23333873T>ACA387513181SACSc.9562A>T (p.Asn3188Tyr)
c.10003A>T (p.Asn3335Tyr)
c.10030A>T (p.Asn3344Tyr)
c.10054A>T (p.Asn3352Tyr)
c.10021A>T (p.Asn3341Tyr)
c.9994A>T (p.Asn3332Tyr)
c.7753A>T (p.Asn2585Tyr)
n.1058-4389A>T (p.=)
n.2130-4389A>T
13g.23333873T>CCA387513182SACSc.9562A>G (p.Asn3188Asp)
c.10003A>G (p.Asn3335Asp)
c.10030A>G (p.Asn3344Asp)
c.10054A>G (p.Asn3352Asp)
c.10021A>G (p.Asn3341Asp)
c.9994A>G (p.Asn3332Asp)
c.7753A>G (p.Asn2585Asp)
n.1058-4389A>G (p.=)
n.2130-4389A>G
13g.23333873T>GCA387513183SACSc.9562A>C (p.Asn3188His)
c.10003A>C (p.Asn3335His)
c.10030A>C (p.Asn3344His)
c.10054A>C (p.Asn3352His)
c.10021A>C (p.Asn3341His)
c.9994A>C (p.Asn3332His)
c.7753A>C (p.Asn2585His)
n.1058-4389A>C (p.=)
n.2130-4389A>C
13g.23333874C>ACA387513184SACSc.9561G>T (p.Leu3187Phe)
c.10002G>T (p.Leu3334Phe)
c.10029G>T (p.Leu3343Phe)
c.10053G>T (p.Leu3351Phe)
c.10020G>T (p.Leu3340Phe)
c.9993G>T (p.Leu3331Phe)
c.7752G>T (p.Leu2584Phe)
n.1058-4390G>T (p.=)
n.2130-4390G>T
13g.23333874C>GCA387513185SACSc.9561G>C (p.Leu3187Phe)
c.10002G>C (p.Leu3334Phe)
c.10029G>C (p.Leu3343Phe)
c.10053G>C (p.Leu3351Phe)
c.10020G>C (p.Leu3340Phe)
c.9993G>C (p.Leu3331Phe)
c.7752G>C (p.Leu2584Phe)
n.1058-4390G>C (p.=)
n.2130-4390G>C
13g.23333874C>TCA483158869SACSc.9561G>A (p.Leu3187=)
c.10002G>A (p.Leu3334=)
c.10029G>A (p.Leu3343=)
c.10053G>A (p.Leu3351=)
c.10020G>A (p.Leu3340=)
c.9993G>A (p.Leu3331=)
c.7752G>A (p.Leu2584=)
n.1058-4390G>A (p.=)
n.2130-4390G>A
13g.23333875A>CCA387513188SACSc.9560T>G (p.Leu3187Trp)
c.10001T>G (p.Leu3334Trp)
c.10028T>G (p.Leu3343Trp)
c.10052T>G (p.Leu3351Trp)
c.10019T>G (p.Leu3340Trp)
c.9992T>G (p.Leu3331Trp)
c.7751T>G (p.Leu2584Trp)
n.1058-4391T>G (p.=)
n.2130-4391T>G
13g.23333875A>GCA387513186SACSc.9560T>C (p.Leu3187Ser)
c.10001T>C (p.Leu3334Ser)
c.10028T>C (p.Leu3343Ser)
c.10052T>C (p.Leu3351Ser)
c.10019T>C (p.Leu3340Ser)
c.9992T>C (p.Leu3331Ser)
c.7751T>C (p.Leu2584Ser)
n.1058-4391T>C (p.=)
n.2130-4391T>C
13g.23333875A>TCA387513187SACSc.9560T>A (p.Leu3187Ter)
c.10001T>A (p.Leu3334Ter)
c.10028T>A (p.Leu3343Ter)
c.10052T>A (p.Leu3351Ter)
c.10019T>A (p.Leu3340Ter)
c.9992T>A (p.Leu3331Ter)
c.7751T>A (p.Leu2584Ter)
n.1058-4391T>A (p.=)
n.2130-4391T>A
13g.23333876A>CCA387513189SACSc.9559T>G (p.Leu3187Val)
c.10000T>G (p.Leu3334Val)
c.10027T>G (p.Leu3343Val)
c.10051T>G (p.Leu3351Val)
c.10018T>G (p.Leu3340Val)
c.9991T>G (p.Leu3331Val)
c.7750T>G (p.Leu2584Val)
n.1058-4392T>G (p.=)
n.2130-4392T>G
13g.23333876A>GCA483158870SACSc.9559T>C (p.Leu3187=)
c.10000T>C (p.Leu3334=)
c.10027T>C (p.Leu3343=)
c.10051T>C (p.Leu3351=)
c.10018T>C (p.Leu3340=)
c.9991T>C (p.Leu3331=)
c.7750T>C (p.Leu2584=)
n.1058-4392T>C (p.=)
n.2130-4392T>C
13g.23333876A>TCA387513190SACSc.9559T>A (p.Leu3187Met)
c.10000T>A (p.Leu3334Met)
c.10027T>A (p.Leu3343Met)
c.10051T>A (p.Leu3351Met)
c.10018T>A (p.Leu3340Met)
c.9991T>A (p.Leu3331Met)
c.7750T>A (p.Leu2584Met)
n.1058-4392T>A (p.=)
n.2130-4392T>A
13g.23333877A>CCA483158872SACSc.9558T>G (p.Ala3186=)
c.9999T>G (p.Ala3333=)
c.10026T>G (p.Ala3342=)
c.10050T>G (p.Ala3350=)
c.10017T>G (p.Ala3339=)
c.9990T>G (p.Ala3330=)
c.7749T>G (p.Ala2583=)
n.1058-4393T>G (p.=)
n.2130-4393T>G
13g.23333877A>GCA483158874SACSc.9558T>C (p.Ala3186=)
c.9999T>C (p.Ala3333=)
c.10026T>C (p.Ala3342=)
c.10050T>C (p.Ala3350=)
c.10017T>C (p.Ala3339=)
c.9990T>C (p.Ala3330=)
c.7749T>C (p.Ala2583=)
n.1058-4393T>C (p.=)
n.2130-4393T>C
13g.23333877A>TCA483158875SACSc.9558T>A (p.Ala3186=)
c.9999T>A (p.Ala3333=)
c.10026T>A (p.Ala3342=)
c.10050T>A (p.Ala3350=)
c.10017T>A (p.Ala3339=)
c.9990T>A (p.Ala3330=)
c.7749T>A (p.Ala2583=)
n.1058-4393T>A (p.=)
n.2130-4393T>A
13g.23333878G>ACA6910527SACSc.9557C>T (p.Ala3186Val)
c.9998C>T (p.Ala3333Val)
c.10025C>T (p.Ala3342Val)
c.10049C>T (p.Ala3350Val)
c.10016C>T (p.Ala3339Val)
c.9989C>T (p.Ala3330Val)
c.7748C>T (p.Ala2583Val)
n.1058-4394C>T (p.=)
n.2130-4394C>T
dbSNP ExAC gnomAD
13g.23333878G>CCA387513191SACSc.9557C>G (p.Ala3186Gly)
c.9998C>G (p.Ala3333Gly)
c.10025C>G (p.Ala3342Gly)
c.10049C>G (p.Ala3350Gly)
c.10016C>G (p.Ala3339Gly)
c.9989C>G (p.Ala3330Gly)
c.7748C>G (p.Ala2583Gly)
n.1058-4394C>G (p.=)
n.2130-4394C>G
13g.23333878G>TCA387513192SACSc.9557C>A (p.Ala3186Asp)
c.9998C>A (p.Ala3333Asp)
c.10025C>A (p.Ala3342Asp)
c.10049C>A (p.Ala3350Asp)
c.10016C>A (p.Ala3339Asp)
c.9989C>A (p.Ala3330Asp)
c.7748C>A (p.Ala2583Asp)
n.1058-4394C>A (p.=)
n.2130-4394C>A
COSMIC COSMIC
13g.23333879C>ACA387513194SACSc.9556G>T (p.Ala3186Ser)
c.9997G>T (p.Ala3333Ser)
c.10024G>T (p.Ala3342Ser)
c.10048G>T (p.Ala3350Ser)
c.10015G>T (p.Ala3339Ser)
c.9988G>T (p.Ala3330Ser)
c.7747G>T (p.Ala2583Ser)
n.1058-4395G>T (p.=)
n.2130-4395G>T
13g.23333879C>GCA387513193SACSc.9556G>C (p.Ala3186Pro)
c.9997G>C (p.Ala3333Pro)
c.10024G>C (p.Ala3342Pro)
c.10048G>C (p.Ala3350Pro)
c.10015G>C (p.Ala3339Pro)
c.9988G>C (p.Ala3330Pro)
c.7747G>C (p.Ala2583Pro)
n.1058-4395G>C (p.=)
n.2130-4395G>C
13g.23333879C>TCA6910528SACSc.9556G>A (p.Ala3186Thr)
c.9997G>A (p.Ala3333Thr)
c.10024G>A (p.Ala3342Thr)
c.10048G>A (p.Ala3350Thr)
c.10015G>A (p.Ala3339Thr)
c.9988G>A (p.Ala3330Thr)
c.7747G>A (p.Ala2583Thr)
n.1058-4395G>A (p.=)
n.2130-4395G>A
dbSNP ExAC
13g.23333880A>CCA483158879SACSc.9555T>G (p.Leu3185=)
c.9996T>G (p.Leu3332=)
c.10023T>G (p.Leu3341=)
c.10047T>G (p.Leu3349=)
c.10014T>G (p.Leu3338=)
c.9987T>G (p.Leu3329=)
c.7746T>G (p.Leu2582=)
n.1058-4396T>G (p.=)
n.2130-4396T>G
13g.23333880A>GCA483158880SACSc.9555T>C (p.Leu3185=)
c.9996T>C (p.Leu3332=)
c.10023T>C (p.Leu3341=)
c.10047T>C (p.Leu3349=)
c.10014T>C (p.Leu3338=)
c.9987T>C (p.Leu3329=)
c.7746T>C (p.Leu2582=)
n.1058-4396T>C (p.=)
n.2130-4396T>C
gnomAD
13g.23333880A>TCA483158881SACSc.9555T>A (p.Leu3185=)
c.9996T>A (p.Leu3332=)
c.10023T>A (p.Leu3341=)
c.10047T>A (p.Leu3349=)
c.10014T>A (p.Leu3338=)
c.9987T>A (p.Leu3329=)
c.7746T>A (p.Leu2582=)
n.1058-4396T>A (p.=)
n.2130-4396T>A
13g.23333881A>CCA387513195SACSc.9554T>G (p.Leu3185Arg)
c.9995T>G (p.Leu3332Arg)
c.10022T>G (p.Leu3341Arg)
c.10046T>G (p.Leu3349Arg)
c.10013T>G (p.Leu3338Arg)
c.9986T>G (p.Leu3329Arg)
c.7745T>G (p.Leu2582Arg)
n.1058-4397T>G (p.=)
n.2130-4397T>G
13g.23333881A>GCA387513197SACSc.9554T>C (p.Leu3185Pro)
c.9995T>C (p.Leu3332Pro)
c.10022T>C (p.Leu3341Pro)
c.10046T>C (p.Leu3349Pro)
c.10013T>C (p.Leu3338Pro)
c.9986T>C (p.Leu3329Pro)
c.7745T>C (p.Leu2582Pro)
n.1058-4397T>C (p.=)
n.2130-4397T>C
13g.23333881A>TCA387513196SACSc.9554T>A (p.Leu3185His)
c.9995T>A (p.Leu3332His)
c.10022T>A (p.Leu3341His)
c.10046T>A (p.Leu3349His)
c.10013T>A (p.Leu3338His)
c.9986T>A (p.Leu3329His)
c.7745T>A (p.Leu2582His)
n.1058-4397T>A (p.=)
n.2130-4397T>A
13g.23333882G>ACA387513198SACSc.9553C>T (p.Leu3185Phe)
c.9994C>T (p.Leu3332Phe)
c.10021C>T (p.Leu3341Phe)
c.10045C>T (p.Leu3349Phe)
c.10012C>T (p.Leu3338Phe)
c.9985C>T (p.Leu3329Phe)
c.7744C>T (p.Leu2582Phe)
n.1058-4398C>T (p.=)
n.2130-4398C>T
13g.23333882G>CCA387513200SACSc.9553C>G (p.Leu3185Val)
c.9994C>G (p.Leu3332Val)
c.10021C>G (p.Leu3341Val)
c.10045C>G (p.Leu3349Val)
c.10012C>G (p.Leu3338Val)
c.9985C>G (p.Leu3329Val)
c.7744C>G (p.Leu2582Val)
n.1058-4398C>G (p.=)
n.2130-4398C>G
13g.23333882G>TCA387513199SACSc.9553C>A (p.Leu3185Ile)
c.9994C>A (p.Leu3332Ile)
c.10021C>A (p.Leu3341Ile)
c.10045C>A (p.Leu3349Ile)
c.10012C>A (p.Leu3338Ile)
c.9985C>A (p.Leu3329Ile)
c.7744C>A (p.Leu2582Ile)
n.1058-4398C>A (p.=)
n.2130-4398C>A
13g.23333883C>ACA387513201SACSc.9552G>T (p.Gln3184His)
c.9993G>T (p.Gln3331His)
c.10020G>T (p.Gln3340His)
c.10044G>T (p.Gln3348His)
c.10011G>T (p.Gln3337His)
c.9984G>T (p.Gln3328His)
c.7743G>T (p.Gln2581His)
n.1058-4399G>T (p.=)
n.2130-4399G>T
13g.23333883C>GCA387513202SACSc.9552G>C (p.Gln3184His)
c.9993G>C (p.Gln3331His)
c.10020G>C (p.Gln3340His)
c.10044G>C (p.Gln3348His)
c.10011G>C (p.Gln3337His)
c.9984G>C (p.Gln3328His)
c.7743G>C (p.Gln2581His)
n.1058-4399G>C (p.=)
n.2130-4399G>C
13g.23333883C>TCA483158883SACSc.9552G>A (p.Gln3184=)
c.9993G>A (p.Gln3331=)
c.10020G>A (p.Gln3340=)
c.10044G>A (p.Gln3348=)
c.10011G>A (p.Gln3337=)
c.9984G>A (p.Gln3328=)
c.7743G>A (p.Gln2581=)
n.1058-4399G>A (p.=)
n.2130-4399G>A
13g.23333884T>ACA387513203SACSc.9551A>T (p.Gln3184Leu)
c.9992A>T (p.Gln3331Leu)
c.10019A>T (p.Gln3340Leu)
c.10043A>T (p.Gln3348Leu)
c.10010A>T (p.Gln3337Leu)
c.9983A>T (p.Gln3328Leu)
c.7742A>T (p.Gln2581Leu)
n.1058-4400A>T (p.=)
n.2130-4400A>T
13g.23333884T>CCA387513204SACSc.9551A>G (p.Gln3184Arg)
c.9992A>G (p.Gln3331Arg)
c.10019A>G (p.Gln3340Arg)
c.10043A>G (p.Gln3348Arg)
c.10010A>G (p.Gln3337Arg)
c.9983A>G (p.Gln3328Arg)
c.7742A>G (p.Gln2581Arg)
n.1058-4400A>G (p.=)
n.2130-4400A>G
13g.23333884T>GCA387513205SACSc.9551A>C (p.Gln3184Pro)
c.9992A>C (p.Gln3331Pro)
c.10019A>C (p.Gln3340Pro)
c.10043A>C (p.Gln3348Pro)
c.10010A>C (p.Gln3337Pro)
c.9983A>C (p.Gln3328Pro)
c.7742A>C (p.Gln2581Pro)
n.1058-4400A>C (p.=)
n.2130-4400A>C
13g.23333885G>ACA387513206SACSc.9550C>T (p.Gln3184Ter)
c.9991C>T (p.Gln3331Ter)
c.10018C>T (p.Gln3340Ter)
c.10042C>T (p.Gln3348Ter)
c.10009C>T (p.Gln3337Ter)
c.9982C>T (p.Gln3328Ter)
c.7741C>T (p.Gln2581Ter)
n.1058-4401C>T (p.=)
n.2130-4401C>T
13g.23333885G>CCA387513207SACSc.9550C>G (p.Gln3184Glu)
c.9991C>G (p.Gln3331Glu)
c.10018C>G (p.Gln3340Glu)
c.10042C>G (p.Gln3348Glu)
c.10009C>G (p.Gln3337Glu)
c.9982C>G (p.Gln3328Glu)
c.7741C>G (p.Gln2581Glu)
n.1058-4401C>G (p.=)
n.2130-4401C>G

Number of alleles fetched