Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51141255G>A | CA118793 | SALL1 | c.967C>T (p.Gln323Ter) c.676C>T (p.Gln226Ter) c.77-3703C>T (n.77-3703C>T) | ClinVar dbSNP |
16 | g.51141255G>C | CA395890219 | SALL1 | c.967C>G (p.Gln323Glu) c.676C>G (p.Gln226Glu) c.77-3703C>G (n.77-3703C>G) | |
16 | g.51141255G= | CA2222021771 | SALL1 | c.967C= (p.Gln323=) c.676C= (p.Gln226=) c.77-3703C= (n.77-3703C=) | |
16 | g.51141255G>T | CA395890221 | SALL1 | c.967C>A (p.Gln323Lys) c.676C>A (p.Gln226Lys) c.77-3703C>A (n.77-3703C>A) | |
16 | g.51141256A>C | CA495781281 | SALL1 | c.966T>G (p.Pro322=) c.675T>G (p.Pro225=) c.77-3704T>G (n.77-3704T>G) | |
16 | g.51141256A>G | CA495781282 | SALL1 | c.966T>C (p.Pro322=) c.675T>C (p.Pro225=) c.77-3704T>C (n.77-3704T>C) | |
16 | g.51141256A>T | CA495781283 | SALL1 | c.966T>A (p.Pro322=) c.675T>A (p.Pro225=) c.77-3704T>A (n.77-3704T>A) | |
16 | g.51141257G>A | CA395890223 | SALL1 | c.965C>T (p.Pro322Leu) c.674C>T (p.Pro225Leu) c.77-3705C>T (n.77-3705C>T) | |
16 | g.51141257G>C | CA395890224 | SALL1 | c.965C>G (p.Pro322Arg) c.674C>G (p.Pro225Arg) c.77-3705C>G (n.77-3705C>G) | |
16 | g.51141257G= | CA2222021775 | SALL1 | c.965C= (p.Pro322=) c.674C= (p.Pro225=) c.77-3705C= (n.77-3705C=) | |
16 | g.51141257G>T | CA395890226 | SALL1 | c.965C>A (p.Pro322His) c.674C>A (p.Pro225His) c.77-3705C>A (n.77-3705C>A) | dbSNP gnomAD v2 |
16 | g.51141258G>A | CA395890227 | SALL1 | c.964C>T (p.Pro322Ser) c.673C>T (p.Pro225Ser) c.77-3706C>T (n.77-3706C>T) | COSMIC |
16 | g.51141258G>C | CA395890229 | SALL1 | c.964C>G (p.Pro322Ala) c.673C>G (p.Pro225Ala) c.77-3706C>G (n.77-3706C>G) | |
16 | g.51141258G>T | CA395890231 | SALL1 | c.964C>A (p.Pro322Thr) c.673C>A (p.Pro225Thr) c.77-3706C>A (n.77-3706C>A) | |
16 | g.51141259T>A | CA495781285 | SALL1 | c.963A>T (p.Leu321=) c.672A>T (p.Leu224=) c.77-3707A>T (n.77-3707A>T) | |
16 | g.51141259T>C | CA495781286 | SALL1 | c.963A>G (p.Leu321=) c.672A>G (p.Leu224=) c.77-3707A>G (n.77-3707A>G) | gnomAD v4 |
16 | g.51141259T>G | CA495781287 | SALL1 | c.963A>C (p.Leu321=) c.672A>C (p.Leu224=) c.77-3707A>C (n.77-3707A>C) | |
16 | g.51141260A>C | CA395890232 | SALL1 | c.962T>G (p.Leu321Arg) c.671T>G (p.Leu224Arg) c.77-3708T>G (n.77-3708T>G) | |
16 | g.51141260A>G | CA395890234 | SALL1 | c.962T>C (p.Leu321Pro) c.671T>C (p.Leu224Pro) c.77-3708T>C (n.77-3708T>C) | |
16 | g.51141260A>T | CA395890235 | SALL1 | c.962T>A (p.Leu321Gln) c.671T>A (p.Leu224Gln) c.77-3708T>A (n.77-3708T>A) | |
16 | g.51141261G>A | CA495781289 | SALL1 | c.961C>T (p.Leu321=) c.670C>T (p.Leu224=) c.77-3709C>T (n.77-3709C>T) | |
16 | g.51141261G>C | CA395890237 | SALL1 | c.961C>G (p.Leu321Val) c.670C>G (p.Leu224Val) c.77-3709C>G (n.77-3709C>G) | |
16 | g.51141261G>T | CA395890238 | SALL1 | c.961C>A (p.Leu321Ile) c.670C>A (p.Leu224Ile) c.77-3709C>A (n.77-3709C>A) | |
16 | g.51141262C>A | CA395890241 | SALL1 | c.960G>T (p.Gln320His) c.669G>T (p.Gln223His) c.77-3710G>T (n.77-3710G>T) | |
16 | g.51141262C>G | CA395890242 | SALL1 | c.960G>C (p.Gln320His) c.669G>C (p.Gln223His) c.77-3710G>C (n.77-3710G>C) | |
16 | g.51141262C>T | CA495781290 | SALL1 | c.960G>A (p.Gln320=) c.669G>A (p.Gln223=) c.77-3710G>A (n.77-3710G>A) | |
16 | g.51141263T>A | CA395890244 | SALL1 | c.959A>T (p.Gln320Leu) c.668A>T (p.Gln223Leu) c.77-3711A>T (n.77-3711A>T) | |
16 | g.51141263T>C | CA395890245 | SALL1 | c.959A>G (p.Gln320Arg) c.668A>G (p.Gln223Arg) c.77-3711A>G (n.77-3711A>G) | |
16 | g.51141263T>G | CA395890246 | SALL1 | c.959A>C (p.Gln320Pro) c.668A>C (p.Gln223Pro) c.77-3711A>C (n.77-3711A>C) | |
16 | g.51141264G>A | CA395890248 | SALL1 | c.958C>T (p.Gln320Ter) c.667C>T (p.Gln223Ter) c.77-3712C>T (n.77-3712C>T) | ClinVar dbSNP |
16 | g.51141264G>C | CA395890250 | SALL1 | c.958C>G (p.Gln320Glu) c.667C>G (p.Gln223Glu) c.77-3712C>G (n.77-3712C>G) | |
16 | g.51141264G= | CA2222021780 | SALL1 | c.958C= (p.Gln320=) c.667C= (p.Gln223=) c.77-3712C= (n.77-3712C=) | |
16 | g.51141264G>T | CA395890251 | SALL1 | c.958C>A (p.Gln320Lys) c.667C>A (p.Gln223Lys) c.77-3712C>A (n.77-3712C>A) | |
16 | g.51141265G>A | CA495781292 | SALL1 | c.957C>T (p.Ile319=) c.666C>T (p.Ile222=) c.77-3713C>T (n.77-3713C>T) | COSMIC |
16 | g.51141265G>C | CA395890253 | SALL1 | c.957C>G (p.Ile319Met) c.666C>G (p.Ile222Met) c.77-3713C>G (n.77-3713C>G) | |
16 | g.51141265G>T | CA495781295 | SALL1 | c.957C>A (p.Ile319=) c.666C>A (p.Ile222=) c.77-3713C>A (n.77-3713C>A) | |
16 | g.51141266A>C | CA395890255 | SALL1 | c.956T>G (p.Ile319Ser) c.665T>G (p.Ile222Ser) c.77-3714T>G (n.77-3714T>G) | |
16 | g.51141266A>G | CA395890256 | SALL1 | c.956T>C (p.Ile319Thr) c.665T>C (p.Ile222Thr) c.77-3714T>C (n.77-3714T>C) | |
16 | g.51141266A>T | CA395890257 | SALL1 | c.956T>A (p.Ile319Asn) c.665T>A (p.Ile222Asn) c.77-3714T>A (n.77-3714T>A) | |
16 | g.51141267T>A | CA395890262 | SALL1 | c.955A>T (p.Ile319Phe) c.664A>T (p.Ile222Phe) c.77-3715A>T (n.77-3715A>T) | |
16 | g.51141267T>C | CA395890260 | SALL1 | c.955A>G (p.Ile319Val) c.664A>G (p.Ile222Val) c.77-3715A>G (n.77-3715A>G) | gnomAD v4 |
16 | g.51141267T>G | CA395890259 | SALL1 | c.955A>C (p.Ile319Leu) c.664A>C (p.Ile222Leu) c.77-3715A>C (n.77-3715A>C) | |
16 | g.51141268T>A | CA495781296 | SALL1 | c.954A>T (p.Pro318=) c.663A>T (p.Pro221=) c.77-3716A>T (n.77-3716A>T) | |
16 | g.51141268T>C | CA495781297 | SALL1 | c.954A>G (p.Pro318=) c.663A>G (p.Pro221=) c.77-3716A>G (n.77-3716A>G) | |
16 | g.51141268T>G | CA495781298 | SALL1 | c.954A>C (p.Pro318=) c.663A>C (p.Pro221=) c.77-3716A>C (n.77-3716A>C) | |
16 | g.51141269G>A | CA281302815 | SALL1 | c.953C>T (p.Pro318Leu) c.662C>T (p.Pro221Leu) c.77-3717C>T (n.77-3717C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141269G>C | CA395890266 | SALL1 | c.953C>G (p.Pro318Arg) c.662C>G (p.Pro221Arg) c.77-3717C>G (n.77-3717C>G) | |
16 | g.51141269G= | CA2222021784 | SALL1 | c.953C= (p.Pro318=) c.662C= (p.Pro221=) c.77-3717C= (n.77-3717C=) | |
16 | g.51141269G>T | CA395890264 | SALL1 | c.953C>A (p.Pro318Gln) c.662C>A (p.Pro221Gln) c.77-3717C>A (n.77-3717C>A) | dbSNP gnomAD v4 COSMIC |
16 | g.51141270G>A | CA395890267 | SALL1 | c.952C>T (p.Pro318Ser) c.661C>T (p.Pro221Ser) c.77-3718C>T (n.77-3718C>T) | dbSNP |