Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23333856T>ACA387513140SACSc.9579A>T (p.Lys3193Asn)
c.10020A>T (p.Lys3340Asn)
c.10047A>T (p.Lys3349Asn)
c.10071A>T (p.Lys3357Asn)
c.10038A>T (p.Lys3346Asn)
c.10011A>T (p.Lys3337Asn)
c.7770A>T (p.Lys2590Asn)
n.1058-4372A>T (p.=)
n.2130-4372A>T
13g.23333856T>CCA483158852SACSc.9579A>G (p.Lys3193=)
c.10020A>G (p.Lys3340=)
c.10047A>G (p.Lys3349=)
c.10071A>G (p.Lys3357=)
c.10038A>G (p.Lys3346=)
c.10011A>G (p.Lys3337=)
c.7770A>G (p.Lys2590=)
n.1058-4372A>G (p.=)
n.2130-4372A>G
13g.23333856T>GCA387513141SACSc.9579A>C (p.Lys3193Asn)
c.10020A>C (p.Lys3340Asn)
c.10047A>C (p.Lys3349Asn)
c.10071A>C (p.Lys3357Asn)
c.10038A>C (p.Lys3346Asn)
c.10011A>C (p.Lys3337Asn)
c.7770A>C (p.Lys2590Asn)
n.1058-4372A>C (p.=)
n.2130-4372A>C
13g.23333857T>ACA387513142SACSc.9578A>T (p.Lys3193Ile)
c.10019A>T (p.Lys3340Ile)
c.10046A>T (p.Lys3349Ile)
c.10070A>T (p.Lys3357Ile)
c.10037A>T (p.Lys3346Ile)
c.10010A>T (p.Lys3337Ile)
c.7769A>T (p.Lys2590Ile)
n.1058-4373A>T (p.=)
n.2130-4373A>T
13g.23333857T>CCA387513143SACSc.9578A>G (p.Lys3193Arg)
c.10019A>G (p.Lys3340Arg)
c.10046A>G (p.Lys3349Arg)
c.10070A>G (p.Lys3357Arg)
c.10037A>G (p.Lys3346Arg)
c.10010A>G (p.Lys3337Arg)
c.7769A>G (p.Lys2590Arg)
n.1058-4373A>G (p.=)
n.2130-4373A>G
13g.23333857T>GCA387513144SACSc.9578A>C (p.Lys3193Thr)
c.10019A>C (p.Lys3340Thr)
c.10046A>C (p.Lys3349Thr)
c.10070A>C (p.Lys3357Thr)
c.10037A>C (p.Lys3346Thr)
c.10010A>C (p.Lys3337Thr)
c.7769A>C (p.Lys2590Thr)
n.1058-4373A>C (p.=)
n.2130-4373A>C
13g.23333858T>ACA387513145SACSc.9577A>T (p.Lys3193Ter)
c.10018A>T (p.Lys3340Ter)
c.10045A>T (p.Lys3349Ter)
c.10069A>T (p.Lys3357Ter)
c.10036A>T (p.Lys3346Ter)
c.10009A>T (p.Lys3337Ter)
c.7768A>T (p.Lys2590Ter)
n.1058-4374A>T (p.=)
n.2130-4374A>T
13g.23333858T>CCA387513146SACSc.9577A>G (p.Lys3193Glu)
c.10018A>G (p.Lys3340Glu)
c.10045A>G (p.Lys3349Glu)
c.10069A>G (p.Lys3357Glu)
c.10036A>G (p.Lys3346Glu)
c.10009A>G (p.Lys3337Glu)
c.7768A>G (p.Lys2590Glu)
n.1058-4374A>G (p.=)
n.2130-4374A>G
13g.23333858T>GCA387513147SACSc.9577A>C (p.Lys3193Gln)
c.10018A>C (p.Lys3340Gln)
c.10045A>C (p.Lys3349Gln)
c.10069A>C (p.Lys3357Gln)
c.10036A>C (p.Lys3346Gln)
c.10009A>C (p.Lys3337Gln)
c.7768A>C (p.Lys2590Gln)
n.1058-4374A>C (p.=)
n.2130-4374A>C
13g.23333859G>ACA483158854SACSc.9576C>T (p.Ser3192=)
c.10017C>T (p.Ser3339=)
c.10044C>T (p.Ser3348=)
c.10068C>T (p.Ser3356=)
c.10035C>T (p.Ser3345=)
c.10008C>T (p.Ser3336=)
c.7767C>T (p.Ser2589=)
n.1058-4375C>T (p.=)
n.2130-4375C>T
13g.23333859G>CCA483158855SACSc.9576C>G (p.Ser3192=)
c.10017C>G (p.Ser3339=)
c.10044C>G (p.Ser3348=)
c.10068C>G (p.Ser3356=)
c.10035C>G (p.Ser3345=)
c.10008C>G (p.Ser3336=)
c.7767C>G (p.Ser2589=)
n.1058-4375C>G (p.=)
n.2130-4375C>G
13g.23333859G>TCA483158856SACSc.9576C>A (p.Ser3192=)
c.10017C>A (p.Ser3339=)
c.10044C>A (p.Ser3348=)
c.10068C>A (p.Ser3356=)
c.10035C>A (p.Ser3345=)
c.10008C>A (p.Ser3336=)
c.7767C>A (p.Ser2589=)
n.1058-4375C>A (p.=)
n.2130-4375C>A
13g.23333860G>ACA387513148SACSc.9575C>T (p.Ser3192Phe)
c.10016C>T (p.Ser3339Phe)
c.10043C>T (p.Ser3348Phe)
c.10067C>T (p.Ser3356Phe)
c.10034C>T (p.Ser3345Phe)
c.10007C>T (p.Ser3336Phe)
c.7766C>T (p.Ser2589Phe)
n.1058-4376C>T (p.=)
n.2130-4376C>T
13g.23333860G>CCA387513149SACSc.9575C>G (p.Ser3192Cys)
c.10016C>G (p.Ser3339Cys)
c.10043C>G (p.Ser3348Cys)
c.10067C>G (p.Ser3356Cys)
c.10034C>G (p.Ser3345Cys)
c.10007C>G (p.Ser3336Cys)
c.7766C>G (p.Ser2589Cys)
n.1058-4376C>G (p.=)
n.2130-4376C>G
13g.23333860G>TCA387513150SACSc.9575C>A (p.Ser3192Tyr)
c.10016C>A (p.Ser3339Tyr)
c.10043C>A (p.Ser3348Tyr)
c.10067C>A (p.Ser3356Tyr)
c.10034C>A (p.Ser3345Tyr)
c.10007C>A (p.Ser3336Tyr)
c.7766C>A (p.Ser2589Tyr)
n.1058-4376C>A (p.=)
n.2130-4376C>A
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

Number of alleles fetched