UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51141007A= | CA2222021154 | SALL1 | c.1215T= (p.Pro405=) c.924T= (p.Pro308=) c.77-3455T= (n.77-3455T=) | |
| 16 | g.51141007A>C | CA495781212 | SALL1 | c.1215T>G (p.Pro405=) c.924T>G (p.Pro308=) c.77-3455T>G (n.77-3455T>G) | |
| 16 | g.51141007A>G | CA495781211 | SALL1 | c.1215T>C (p.Pro405=) c.924T>C (p.Pro308=) c.77-3455T>C (n.77-3455T>C) | |
| 16 | g.51141007A>T | CA495781210 | SALL1 | c.1215T>A (p.Pro405=) c.924T>A (p.Pro308=) c.77-3455T>A (n.77-3455T>A) | |
| 16 | g.51141008G>A | CA395889159 | SALL1 | c.1214C>T (p.Pro405Leu) c.923C>T (p.Pro308Leu) c.77-3456C>T (n.77-3456C>T) | dbSNP gnomAD v4 |
| 16 | g.51141008G>C | CA395889160 | SALL1 | c.1214C>G (p.Pro405Arg) c.923C>G (p.Pro308Arg) c.77-3456C>G (n.77-3456C>G) | |
| 16 | g.51141008G= | CA2222021179 | SALL1 | c.1214C= (p.Pro405=) c.923C= (p.Pro308=) c.77-3456C= (n.77-3456C=) | |
| 16 | g.51141008G>T | CA395889161 | SALL1 | c.1214C>A (p.Pro405His) c.923C>A (p.Pro308His) c.77-3456C>A (n.77-3456C>A) | |
| 16 | g.51141010dup | CA658658470 | SALL1 | c.1214dup (p.Leu406PhefsTer?) c.923dup (p.Leu309PhefsTer?) c.77-3456dup (n.77-3456dup) | ClinVar dbSNP |
| 16 | g.51141009G>A | CA395889164 | SALL1 | c.1213C>T (p.Pro405Ser) c.922C>T (p.Pro308Ser) c.77-3457C>T (n.77-3457C>T) | dbSNP gnomAD v4 |
| 16 | g.51141009G>C | CA395889162 | SALL1 | c.1213C>G (p.Pro405Ala) c.922C>G (p.Pro308Ala) c.77-3457C>G (n.77-3457C>G) | |
| 16 | g.51141009G= | CA2222021183 | SALL1 | c.1213C= (p.Pro405=) c.922C= (p.Pro308=) c.77-3457C= (n.77-3457C=) | |
| 16 | g.51141009G>T | CA395889163 | SALL1 | c.1213C>A (p.Pro405Thr) c.922C>A (p.Pro308Thr) c.77-3457C>A (n.77-3457C>A) | |
| 16 | g.51141010G>A | CA8053316 | SALL1 | c.1212C>T (p.Ser404=) c.921C>T (p.Ser307=) c.77-3458C>T (n.77-3458C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141010G>C | CA395889165 | SALL1 | c.1212C>G (p.Ser404Arg) c.921C>G (p.Ser307Arg) c.77-3458C>G (n.77-3458C>G) | |
| 16 | g.51141010G= | CA2222021191 | SALL1 | c.1212C= (p.Ser404=) c.921C= (p.Ser307=) c.77-3458C= (n.77-3458C=) | |
| 16 | g.51141010G>T | CA395889166 | SALL1 | c.1212C>A (p.Ser404Arg) c.921C>A (p.Ser307Arg) c.77-3458C>A (n.77-3458C>A) | |
| 16 | g.51141011C>A | CA395889167 | SALL1 | c.1211G>T (p.Ser404Ile) c.920G>T (p.Ser307Ile) c.77-3459G>T (n.77-3459G>T) | |
| 16 | g.51141011C>G | CA395889168 | SALL1 | c.1211G>C (p.Ser404Thr) c.920G>C (p.Ser307Thr) c.77-3459G>C (n.77-3459G>C) | |
| 16 | g.51141011C>T | CA395889169 | SALL1 | c.1211G>A (p.Ser404Asn) c.920G>A (p.Ser307Asn) c.77-3459G>A (n.77-3459G>A) | |
| 16 | g.51141012T>A | CA395889170 | SALL1 | c.1210A>T (p.Ser404Cys) c.919A>T (p.Ser307Cys) c.77-3460A>T (n.77-3460A>T) | |
| 16 | g.51141012T>C | CA395889171 | SALL1 | c.1210A>G (p.Ser404Gly) c.919A>G (p.Ser307Gly) c.77-3460A>G (n.77-3460A>G) | |
| 16 | g.51141012T>G | CA8053317 | SALL1 | c.1210A>C (p.Ser404Arg) c.919A>C (p.Ser307Arg) c.77-3460A>C (n.77-3460A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141012T= | CA2222021199 | SALL1 | c.1210A= (p.Ser404=) c.919A= (p.Ser307=) c.77-3460A= (n.77-3460A=) | |
| 16 | g.51141013G>A | CA495781218 | SALL1 | c.1209C>T (p.Pro403=) c.918C>T (p.Pro306=) c.77-3461C>T (n.77-3461C>T) | |
| 16 | g.51141013G>C | CA495781220 | SALL1 | c.1209C>G (p.Pro403=) c.918C>G (p.Pro306=) c.77-3461C>G (n.77-3461C>G) | |
| 16 | g.51141013G= | CA2222021203 | SALL1 | c.1209C= (p.Pro403=) c.918C= (p.Pro306=) c.77-3461C= (n.77-3461C=) | |
| 16 | g.51141013G>T | CA495781219 | SALL1 | c.1209C>A (p.Pro403=) c.918C>A (p.Pro306=) c.77-3461C>A (n.77-3461C>A) | dbSNP gnomAD v4 |
| 16 | g.51141016del | CA2695223379 | SALL1 | c.1209del (p.Ser404AlafsTer13) c.918del (p.Ser307AlafsTer13) c.77-3461del (n.77-3461del) | |
| 16 | g.51141014G>A | CA395889172 | SALL1 | c.1208C>T (p.Pro403Leu) c.917C>T (p.Pro306Leu) c.77-3462C>T (n.77-3462C>T) | |
| 16 | g.51141014G>C | CA395889173 | SALL1 | c.1208C>G (p.Pro403Arg) c.917C>G (p.Pro306Arg) c.77-3462C>G (n.77-3462C>G) | gnomAD v4 |
| 16 | g.51141014G>T | CA395889174 | SALL1 | c.1208C>A (p.Pro403His) c.917C>A (p.Pro306His) c.77-3462C>A (n.77-3462C>A) | |
| 16 | g.51141015G>A | CA8053318 | SALL1 | c.1207C>T (p.Pro403Ser) c.916C>T (p.Pro306Ser) c.77-3463C>T (n.77-3463C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141015G>C | CA395889176 | SALL1 | c.1207C>G (p.Pro403Ala) c.916C>G (p.Pro306Ala) c.77-3463C>G (n.77-3463C>G) | |
| 16 | g.51141015G= | CA2222021204 | SALL1 | c.1207C= (p.Pro403=) c.916C= (p.Pro306=) c.77-3463C= (n.77-3463C=) | |
| 16 | g.51141015G>T | CA395889175 | SALL1 | c.1207C>A (p.Pro403Thr) c.916C>A (p.Pro306Thr) c.77-3463C>A (n.77-3463C>A) | |
| 16 | g.51141016G>A | CA495781225 | SALL1 | c.1206C>T (p.Phe402=) c.915C>T (p.Phe305=) c.77-3464C>T (n.77-3464C>T) | gnomAD v4 |
| 16 | g.51141016G>C | CA395889178 | SALL1 | c.1206C>G (p.Phe402Leu) c.915C>G (p.Phe305Leu) c.77-3464C>G (n.77-3464C>G) | |
| 16 | g.51141016G>T | CA395889177 | SALL1 | c.1206C>A (p.Phe402Leu) c.915C>A (p.Phe305Leu) c.77-3464C>A (n.77-3464C>A) | |
| 16 | g.51141018_51141024del | CA2695223380 | SALL1 | c.1200_1206del (p.Val401ProfsTer14) c.909_915del (p.Val304ProfsTer14) c.77-3470_77-3464del (n.77-3470_77-3464del) | |
| 16 | g.51141017A>C | CA395889181 | SALL1 | c.1205T>G (p.Phe402Cys) c.914T>G (p.Phe305Cys) c.77-3465T>G (n.77-3465T>G) | |
| 16 | g.51141017A>G | CA395889179 | SALL1 | c.1205T>C (p.Phe402Ser) c.914T>C (p.Phe305Ser) c.77-3465T>C (n.77-3465T>C) | gnomAD v4 |
| 16 | g.51141017A>T | CA395889180 | SALL1 | c.1205T>A (p.Phe402Tyr) c.914T>A (p.Phe305Tyr) c.77-3465T>A (n.77-3465T>A) | |
| 16 | g.51141018A>C | CA395889182 | SALL1 | c.1204T>G (p.Phe402Val) c.913T>G (p.Phe305Val) c.77-3466T>G (n.77-3466T>G) | |
| 16 | g.51141018A>G | CA395889183 | SALL1 | c.1204T>C (p.Phe402Leu) c.913T>C (p.Phe305Leu) c.77-3466T>C (n.77-3466T>C) | |
| 16 | g.51141018A>T | CA395889184 | SALL1 | c.1204T>A (p.Phe402Ile) c.913T>A (p.Phe305Ile) c.77-3466T>A (n.77-3466T>A) | |
| 16 | g.51141019A>C | CA495781230 | SALL1 | c.1203T>G (p.Val401=) c.912T>G (p.Val304=) c.77-3467T>G (n.77-3467T>G) | |
| 16 | g.51141019A>G | CA495781231 | SALL1 | c.1203T>C (p.Val401=) c.912T>C (p.Val304=) c.77-3467T>C (n.77-3467T>C) | |
| 16 | g.51141019A>T | CA495781232 | SALL1 | c.1203T>A (p.Val401=) c.912T>A (p.Val304=) c.77-3467T>A (n.77-3467T>A) | |
| 16 | g.51141020A= | CA2222021207 | SALL1 | c.1202T= (p.Val401=) c.911T= (p.Val304=) c.77-3468T= (n.77-3468T=) |