Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23333861A>CCA387513151SACSc.9574T>G (p.Ser3192Ala)
c.10015T>G (p.Ser3339Ala)
c.10042T>G (p.Ser3348Ala)
c.10066T>G (p.Ser3356Ala)
c.10033T>G (p.Ser3345Ala)
c.10006T>G (p.Ser3336Ala)
c.7765T>G (p.Ser2589Ala)
n.1058-4377T>G (p.=)
n.2130-4377T>G
13g.23333861A>GCA387513152SACSc.9574T>C (p.Ser3192Pro)
c.10015T>C (p.Ser3339Pro)
c.10042T>C (p.Ser3348Pro)
c.10066T>C (p.Ser3356Pro)
c.10033T>C (p.Ser3345Pro)
c.10006T>C (p.Ser3336Pro)
c.7765T>C (p.Ser2589Pro)
n.1058-4377T>C (p.=)
n.2130-4377T>C
13g.23333861A>TCA387513153SACSc.9574T>A (p.Ser3192Thr)
c.10015T>A (p.Ser3339Thr)
c.10042T>A (p.Ser3348Thr)
c.10066T>A (p.Ser3356Thr)
c.10033T>A (p.Ser3345Thr)
c.10006T>A (p.Ser3336Thr)
c.7765T>A (p.Ser2589Thr)
n.1058-4377T>A (p.=)
n.2130-4377T>A
13g.23333862A>CCA387513154SACSc.9573T>G (p.Cys3191Trp)
c.10014T>G (p.Cys3338Trp)
c.10041T>G (p.Cys3347Trp)
c.10065T>G (p.Cys3355Trp)
c.10032T>G (p.Cys3344Trp)
c.10005T>G (p.Cys3335Trp)
c.7764T>G (p.Cys2588Trp)
n.1058-4378T>G (p.=)
n.2130-4378T>G
13g.23333862A>GCA483158857SACSc.9573T>C (p.Cys3191=)
c.10014T>C (p.Cys3338=)
c.10041T>C (p.Cys3347=)
c.10065T>C (p.Cys3355=)
c.10032T>C (p.Cys3344=)
c.10005T>C (p.Cys3335=)
c.7764T>C (p.Cys2588=)
n.1058-4378T>C (p.=)
n.2130-4378T>C
13g.23333862A>TCA387513155SACSc.9573T>A (p.Cys3191Ter)
c.10014T>A (p.Cys3338Ter)
c.10041T>A (p.Cys3347Ter)
c.10065T>A (p.Cys3355Ter)
c.10032T>A (p.Cys3344Ter)
c.10005T>A (p.Cys3335Ter)
c.7764T>A (p.Cys2588Ter)
n.1058-4378T>A (p.=)
n.2130-4378T>A
13g.23333863C>ACA387513156SACSc.9572G>T (p.Cys3191Phe)
c.10013G>T (p.Cys3338Phe)
c.10040G>T (p.Cys3347Phe)
c.10064G>T (p.Cys3355Phe)
c.10031G>T (p.Cys3344Phe)
c.10004G>T (p.Cys3335Phe)
c.7763G>T (p.Cys2588Phe)
n.1058-4379G>T (p.=)
n.2130-4379G>T
13g.23333863C>GCA6910524SACSc.9572G>C (p.Cys3191Ser)
c.10013G>C (p.Cys3338Ser)
c.10040G>C (p.Cys3347Ser)
c.10064G>C (p.Cys3355Ser)
c.10031G>C (p.Cys3344Ser)
c.10004G>C (p.Cys3335Ser)
c.7763G>C (p.Cys2588Ser)
n.1058-4379G>C (p.=)
n.2130-4379G>C
dbSNP ExAC gnomAD
13g.23333863C>TCA387513157SACSc.9572G>A (p.Cys3191Tyr)
c.10013G>A (p.Cys3338Tyr)
c.10040G>A (p.Cys3347Tyr)
c.10064G>A (p.Cys3355Tyr)
c.10031G>A (p.Cys3344Tyr)
c.10004G>A (p.Cys3335Tyr)
c.7763G>A (p.Cys2588Tyr)
n.1058-4379G>A (p.=)
n.2130-4379G>A
13g.23333864A>CCA387513158SACSc.9571T>G (p.Cys3191Gly)
c.10012T>G (p.Cys3338Gly)
c.10039T>G (p.Cys3347Gly)
c.10063T>G (p.Cys3355Gly)
c.10030T>G (p.Cys3344Gly)
c.10003T>G (p.Cys3335Gly)
c.7762T>G (p.Cys2588Gly)
n.1058-4380T>G (p.=)
n.2130-4380T>G
13g.23333864A>GCA387513159SACSc.9571T>C (p.Cys3191Arg)
c.10012T>C (p.Cys3338Arg)
c.10039T>C (p.Cys3347Arg)
c.10063T>C (p.Cys3355Arg)
c.10030T>C (p.Cys3344Arg)
c.10003T>C (p.Cys3335Arg)
c.7762T>C (p.Cys2588Arg)
n.1058-4380T>C (p.=)
n.2130-4380T>C
13g.23333864A>TCA387513160SACSc.9571T>A (p.Cys3191Ser)
c.10012T>A (p.Cys3338Ser)
c.10039T>A (p.Cys3347Ser)
c.10063T>A (p.Cys3355Ser)
c.10030T>A (p.Cys3344Ser)
c.10003T>A (p.Cys3335Ser)
c.7762T>A (p.Cys2588Ser)
n.1058-4380T>A (p.=)
n.2130-4380T>A
13g.23333865G>ACA6910525SACSc.9570C>T (p.Ile3190=)
c.10011C>T (p.Ile3337=)
c.10038C>T (p.Ile3346=)
c.10062C>T (p.Ile3354=)
c.10029C>T (p.Ile3343=)
c.10002C>T (p.Ile3334=)
c.7761C>T (p.Ile2587=)
n.1058-4381C>T (p.=)
n.2130-4381C>T
dbSNP ExAC gnomAD
13g.23333865G>CCA387513161SACSc.9570C>G (p.Ile3190Met)
c.10011C>G (p.Ile3337Met)
c.10038C>G (p.Ile3346Met)
c.10062C>G (p.Ile3354Met)
c.10029C>G (p.Ile3343Met)
c.10002C>G (p.Ile3334Met)
c.7761C>G (p.Ile2587Met)
n.1058-4381C>G (p.=)
n.2130-4381C>G
13g.23333865G>TCA483158861SACSc.9570C>A (p.Ile3190=)
c.10011C>A (p.Ile3337=)
c.10038C>A (p.Ile3346=)
c.10062C>A (p.Ile3354=)
c.10029C>A (p.Ile3343=)
c.10002C>A (p.Ile3334=)
c.7761C>A (p.Ile2587=)
n.1058-4381C>A (p.=)
n.2130-4381C>A
13g.23333866A>CCA387513162SACSc.9569T>G (p.Ile3190Ser)
c.10010T>G (p.Ile3337Ser)
c.10037T>G (p.Ile3346Ser)
c.10061T>G (p.Ile3354Ser)
c.10028T>G (p.Ile3343Ser)
c.10001T>G (p.Ile3334Ser)
c.7760T>G (p.Ile2587Ser)
n.1058-4382T>G (p.=)
n.2130-4382T>G
13g.23333866A>GCA387513163SACSc.9569T>C (p.Ile3190Thr)
c.10010T>C (p.Ile3337Thr)
c.10037T>C (p.Ile3346Thr)
c.10061T>C (p.Ile3354Thr)
c.10028T>C (p.Ile3343Thr)
c.10001T>C (p.Ile3334Thr)
c.7760T>C (p.Ile2587Thr)
n.1058-4382T>C (p.=)
n.2130-4382T>C
13g.23333866A>TCA387513164SACSc.9569T>A (p.Ile3190Asn)
c.10010T>A (p.Ile3337Asn)
c.10037T>A (p.Ile3346Asn)
c.10061T>A (p.Ile3354Asn)
c.10028T>A (p.Ile3343Asn)
c.10001T>A (p.Ile3334Asn)
c.7760T>A (p.Ile2587Asn)
n.1058-4382T>A (p.=)
n.2130-4382T>A
13g.23333867T>ACA387513166SACSc.9568A>T (p.Ile3190Phe)
c.10009A>T (p.Ile3337Phe)
c.10036A>T (p.Ile3346Phe)
c.10060A>T (p.Ile3354Phe)
c.10027A>T (p.Ile3343Phe)
c.10000A>T (p.Ile3334Phe)
c.7759A>T (p.Ile2587Phe)
n.1058-4383A>T (p.=)
n.2130-4383A>T
13g.23333867T>CCA387513167SACSc.9568A>G (p.Ile3190Val)
c.10009A>G (p.Ile3337Val)
c.10036A>G (p.Ile3346Val)
c.10060A>G (p.Ile3354Val)
c.10027A>G (p.Ile3343Val)
c.10000A>G (p.Ile3334Val)
c.7759A>G (p.Ile2587Val)
n.1058-4383A>G (p.=)
n.2130-4383A>G
COSMIC COSMIC
13g.23333867T>GCA387513165SACSc.9568A>C (p.Ile3190Leu)
c.10009A>C (p.Ile3337Leu)
c.10036A>C (p.Ile3346Leu)
c.10060A>C (p.Ile3354Leu)
c.10027A>C (p.Ile3343Leu)
c.10000A>C (p.Ile3334Leu)
c.7759A>C (p.Ile2587Leu)
n.1058-4383A>C (p.=)
n.2130-4383A>C
13g.23333868T>ACA387513168SACSc.9567A>T (p.Lys3189Asn)
c.10008A>T (p.Lys3336Asn)
c.10035A>T (p.Lys3345Asn)
c.10059A>T (p.Lys3353Asn)
c.10026A>T (p.Lys3342Asn)
c.9999A>T (p.Lys3333Asn)
c.7758A>T (p.Lys2586Asn)
n.1058-4384A>T (p.=)
n.2130-4384A>T
13g.23333868T>CCA6910526SACSc.9567A>G (p.Lys3189=)
c.10008A>G (p.Lys3336=)
c.10035A>G (p.Lys3345=)
c.10059A>G (p.Lys3353=)
c.10026A>G (p.Lys3342=)
c.9999A>G (p.Lys3333=)
c.7758A>G (p.Lys2586=)
n.1058-4384A>G (p.=)
n.2130-4384A>G
ClinVar dbSNP ExAC gnomAD
13g.23333868T>GCA387513169SACSc.9567A>C (p.Lys3189Asn)
c.10008A>C (p.Lys3336Asn)
c.10035A>C (p.Lys3345Asn)
c.10059A>C (p.Lys3353Asn)
c.10026A>C (p.Lys3342Asn)
c.9999A>C (p.Lys3333Asn)
c.7758A>C (p.Lys2586Asn)
n.1058-4384A>C (p.=)
n.2130-4384A>C
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

Number of alleles fetched