Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.51141273del | CA2740093329 | SALL1 | c.953del (p.Pro318GlnfsTer24) c.662del (p.Pro221GlnfsTer24) c.77-3717del (n.77-3717del) | ClinVar |
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 |
16 | g.51141270G>C | CA8053367 | SALL1 | c.952C>G (p.Pro318Ala) c.661C>G (p.Pro221Ala) c.77-3718C>G (n.77-3718C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141270G= | CA2222021793 | SALL1 | c.952C= (p.Pro318=) c.661C= (p.Pro221=) c.77-3718C= (n.77-3718C=) | |
16 | g.51141270G>T | CA395890269 | SALL1 | c.952C>A (p.Pro318Thr) c.661C>A (p.Pro221Thr) c.77-3718C>A (n.77-3718C>A) | dbSNP gnomAD v4 |
16 | g.51141271G>A | CA495781300 | SALL1 | c.951C>T (p.Pro317=) c.660C>T (p.Pro220=) c.77-3719C>T (n.77-3719C>T) | |
16 | g.51141271G>C | CA495781302 | SALL1 | c.951C>G (p.Pro317=) c.660C>G (p.Pro220=) c.77-3719C>G (n.77-3719C>G) | |
16 | g.51141271G>T | CA495781301 | SALL1 | c.951C>A (p.Pro317=) c.660C>A (p.Pro220=) c.77-3719C>A (n.77-3719C>A) | |
16 | g.51141272G>A | CA395890271 | SALL1 | c.950C>T (p.Pro317Leu) c.659C>T (p.Pro220Leu) c.77-3720C>T (n.77-3720C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141272G>C | CA395890272 | SALL1 | c.950C>G (p.Pro317Arg) c.659C>G (p.Pro220Arg) c.77-3720C>G (n.77-3720C>G) | |
16 | g.51141272G= | CA2222021802 | SALL1 | c.950C= (p.Pro317=) c.659C= (p.Pro220=) c.77-3720C= (n.77-3720C=) | |
16 | g.51141272G>T | CA8053368 | SALL1 | c.950C>A (p.Pro317His) c.659C>A (p.Pro220His) c.77-3720C>A (n.77-3720C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141273G>A | CA339760 | SALL1 | c.949C>T (p.Pro317Ser) c.658C>T (p.Pro220Ser) c.77-3721C>T (n.77-3721C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141273G>C | CA395890273 | SALL1 | c.949C>G (p.Pro317Ala) c.658C>G (p.Pro220Ala) c.77-3721C>G (n.77-3721C>G) | |
16 | g.51141273G= | CA2222021805 | SALL1 | c.949C= (p.Pro317=) c.658C= (p.Pro220=) c.77-3721C= (n.77-3721C=) | |
16 | g.51141273G>T | CA395890275 | SALL1 | c.949C>A (p.Pro317Thr) c.658C>A (p.Pro220Thr) c.77-3721C>A (n.77-3721C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141274T>A | CA495781306 | SALL1 | c.948A>T (p.Leu316=) c.657A>T (p.Leu219=) c.77-3722A>T (n.77-3722A>T) | |
16 | g.51141274T>C | CA8053369 | SALL1 | c.948A>G (p.Leu316=) c.657A>G (p.Leu219=) c.77-3722A>G (n.77-3722A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141274T>G | CA495781307 | SALL1 | c.948A>C (p.Leu316=) c.657A>C (p.Leu219=) c.77-3722A>C (n.77-3722A>C) | |
16 | g.51141274T= | CA2222021810 | SALL1 | c.948A= (p.Leu316=) c.657A= (p.Leu219=) c.77-3722A= (n.77-3722A=) | |
16 | g.51141275A= | CA2222021812 | SALL1 | c.947T= (p.Leu316=) c.656T= (p.Leu219=) c.77-3723T= (n.77-3723T=) | |
16 | g.51141275A>C | CA395890277 | SALL1 | c.947T>G (p.Leu316Arg) c.656T>G (p.Leu219Arg) c.77-3723T>G (n.77-3723T>G) | |
16 | g.51141275A>G | CA395890278 | SALL1 | c.947T>C (p.Leu316Pro) c.656T>C (p.Leu219Pro) c.77-3723T>C (n.77-3723T>C) | gnomAD v4 |
16 | g.51141275A>T | CA395890280 | SALL1 | c.947T>A (p.Leu316Gln) c.656T>A (p.Leu219Gln) c.77-3723T>A (n.77-3723T>A) | dbSNP |