WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51138868T>A | CA495779807 | SALL1 | c.3354A>T (p.Thr1118=) c.3063A>T (p.Thr1021=) c.77-1316A>T (n.77-1316A>T) | gnomAD v4 |
| 16 | g.51138868T>C | CA495779808 | SALL1 | c.3354A>G (p.Thr1118=) c.3063A>G (p.Thr1021=) c.77-1316A>G (n.77-1316A>G) | gnomAD v4 |
| 16 | g.51138868T>G | CA495779809 | SALL1 | c.3354A>C (p.Thr1118=) c.3063A>C (p.Thr1021=) c.77-1316A>C (n.77-1316A>C) | |
| 16 | g.51138869G>A | CA395880537 | SALL1 | c.3353C>T (p.Thr1118Ile) c.3062C>T (p.Thr1021Ile) c.77-1317C>T (n.77-1317C>T) | |
| 16 | g.51138869G>C | CA395880540 | SALL1 | c.3353C>G (p.Thr1118Arg) c.3062C>G (p.Thr1021Arg) c.77-1317C>G (n.77-1317C>G) | |
| 16 | g.51138869G>T | CA395880543 | SALL1 | c.3353C>A (p.Thr1118Lys) c.3062C>A (p.Thr1021Lys) c.77-1317C>A (n.77-1317C>A) | |
| 16 | g.51138870T>A | CA395880546 | SALL1 | c.3352A>T (p.Thr1118Ser) c.3061A>T (p.Thr1021Ser) c.77-1318A>T (n.77-1318A>T) | |
| 16 | g.51138870T>C | CA395880559 | SALL1 | c.3352A>G (p.Thr1118Ala) c.3061A>G (p.Thr1021Ala) c.77-1318A>G (n.77-1318A>G) | dbSNP |
| 16 | g.51138870T>G | CA395880563 | SALL1 | c.3352A>C (p.Thr1118Pro) c.3061A>C (p.Thr1021Pro) c.77-1318A>C (n.77-1318A>C) | |
| 16 | g.51138870T= | CA2222016918 | SALL1 | c.3352A= (p.Thr1118=) c.3061A= (p.Thr1021=) c.77-1318A= (n.77-1318A=) | |
| 16 | g.51138871G>A | CA495779813 | SALL1 | c.3351C>T (p.Ala1117=) c.3060C>T (p.Ala1020=) c.77-1319C>T (n.77-1319C>T) | dbSNP |
| 16 | g.51138871G>C | CA495779812 | SALL1 | c.3351C>G (p.Ala1117=) c.3060C>G (p.Ala1020=) c.77-1319C>G (n.77-1319C>G) | |
| 16 | g.51138871G= | CA2222016925 | SALL1 | c.3351C= (p.Ala1117=) c.3060C= (p.Ala1020=) c.77-1319C= (n.77-1319C=) | |
| 16 | g.51138871G>T | CA495779811 | SALL1 | c.3351C>A (p.Ala1117=) c.3060C>A (p.Ala1020=) c.77-1319C>A (n.77-1319C>A) | |
| 16 | g.51138871_51138873dup | CA2553379064 | SALL1 | c.3349_3351dup (p.Ala1117_Thr1118insAla) c.3058_3060dup (p.Ala1020_Thr1021insAla) c.77-1321_77-1319dup (n.77-1321_77-1319dup) | |
| 16 | g.51138872G>A | CA395880570 | SALL1 | c.3350C>T (p.Ala1117Val) c.3059C>T (p.Ala1020Val) c.77-1320C>T (n.77-1320C>T) | |
| 16 | g.51138872G>C | CA395880566 | SALL1 | c.3350C>G (p.Ala1117Gly) c.3059C>G (p.Ala1020Gly) c.77-1320C>G (n.77-1320C>G) | |
| 16 | g.51138872G>T | CA395880568 | SALL1 | c.3350C>A (p.Ala1117Asp) c.3059C>A (p.Ala1020Asp) c.77-1320C>A (n.77-1320C>A) | |
| 16 | g.51138873C>A | CA395880573 | SALL1 | c.3349G>T (p.Ala1117Ser) c.3058G>T (p.Ala1020Ser) c.77-1321G>T (n.77-1321G>T) | |
| 16 | g.51138873C= | CA2222016927 | SALL1 | c.3349G= (p.Ala1117=) c.3058G= (p.Ala1020=) c.77-1321G= (n.77-1321G=) | |
| 16 | g.51138873C>G | CA395880576 | SALL1 | c.3349G>C (p.Ala1117Pro) c.3058G>C (p.Ala1020Pro) c.77-1321G>C (n.77-1321G>C) | |
| 16 | g.51138873C>T | CA395880580 | SALL1 | c.3349G>A (p.Ala1117Thr) c.3058G>A (p.Ala1020Thr) c.77-1321G>A (n.77-1321G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138874A>C | CA495779815 | SALL1 | c.3348T>G (p.Ser1116=) c.3057T>G (p.Ser1019=) c.77-1322T>G (n.77-1322T>G) | |
| 16 | g.51138874A>G | CA495779816 | SALL1 | c.3348T>C (p.Ser1116=) c.3057T>C (p.Ser1019=) c.77-1322T>C (n.77-1322T>C) | |
| 16 | g.51138874A>T | CA495779817 | SALL1 | c.3348T>A (p.Ser1116=) c.3057T>A (p.Ser1019=) c.77-1322T>A (n.77-1322T>A) | |
| 16 | g.51138875G>A | CA8052944 | SALL1 | c.3347C>T (p.Ser1116Phe) c.3056C>T (p.Ser1019Phe) c.77-1323C>T (n.77-1323C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138875G>C | CA395880583 | SALL1 | c.3347C>G (p.Ser1116Cys) c.3056C>G (p.Ser1019Cys) c.77-1323C>G (n.77-1323C>G) | |
| 16 | g.51138875G= | CA2222016931 | SALL1 | c.3347C= (p.Ser1116=) c.3056C= (p.Ser1019=) c.77-1323C= (n.77-1323C=) | |
| 16 | g.51138875G>T | CA395880585 | SALL1 | c.3347C>A (p.Ser1116Tyr) c.3056C>A (p.Ser1019Tyr) c.77-1323C>A (n.77-1323C>A) | |
| 16 | g.51138876A>C | CA395880588 | SALL1 | c.3346T>G (p.Ser1116Ala) c.3055T>G (p.Ser1019Ala) c.77-1324T>G (n.77-1324T>G) | |
| 16 | g.51138876A>G | CA395880590 | SALL1 | c.3346T>C (p.Ser1116Pro) c.3055T>C (p.Ser1019Pro) c.77-1324T>C (n.77-1324T>C) | |
| 16 | g.51138876A>T | CA395880593 | SALL1 | c.3346T>A (p.Ser1116Thr) c.3055T>A (p.Ser1019Thr) c.77-1324T>A (n.77-1324T>A) | |
| 16 | g.51138877G>A | CA495779819 | SALL1 | c.3345C>T (p.Ser1115=) c.3054C>T (p.Ser1018=) c.77-1325C>T (n.77-1325C>T) | |
| 16 | g.51138877G>C | CA495779821 | SALL1 | c.3345C>G (p.Ser1115=) c.3054C>G (p.Ser1018=) c.77-1325C>G (n.77-1325C>G) | gnomAD v4 |
| 16 | g.51138877G>T | CA495779820 | SALL1 | c.3345C>A (p.Ser1115=) c.3054C>A (p.Ser1018=) c.77-1325C>A (n.77-1325C>A) | |
| 16 | g.51138878G>A | CA395880595 | SALL1 | c.3344C>T (p.Ser1115Phe) c.3053C>T (p.Ser1018Phe) c.77-1326C>T (n.77-1326C>T) | |
| 16 | g.51138878G>C | CA395880597 | SALL1 | c.3344C>G (p.Ser1115Cys) c.3053C>G (p.Ser1018Cys) c.77-1326C>G (n.77-1326C>G) | |
| 16 | g.51138878G>T | CA395880598 | SALL1 | c.3344C>A (p.Ser1115Tyr) c.3053C>A (p.Ser1018Tyr) c.77-1326C>A (n.77-1326C>A) | |
| 16 | g.51138879A>C | CA395880608 | SALL1 | c.3343T>G (p.Ser1115Ala) c.3052T>G (p.Ser1018Ala) c.77-1327T>G (n.77-1327T>G) | |
| 16 | g.51138879A>G | CA395880605 | SALL1 | c.3343T>C (p.Ser1115Pro) c.3052T>C (p.Ser1018Pro) c.77-1327T>C (n.77-1327T>C) | gnomAD v4 |
| 16 | g.51138879A>T | CA395880602 | SALL1 | c.3343T>A (p.Ser1115Thr) c.3052T>A (p.Ser1018Thr) c.77-1327T>A (n.77-1327T>A) | |
| 16 | g.51138880A>C | CA495779824 | SALL1 | c.3342T>G (p.Ser1114=) c.3051T>G (p.Ser1017=) c.77-1328T>G (n.77-1328T>G) | COSMIC |
| 16 | g.51138880A>G | CA495779826 | SALL1 | c.3342T>C (p.Ser1114=) c.3051T>C (p.Ser1017=) c.77-1328T>C (n.77-1328T>C) | |
| 16 | g.51138880A>T | CA495779827 | SALL1 | c.3342T>A (p.Ser1114=) c.3051T>A (p.Ser1017=) c.77-1328T>A (n.77-1328T>A) | |
| 16 | g.51138881G>A | CA395880611 | SALL1 | c.3341C>T (p.Ser1114Phe) c.3050C>T (p.Ser1017Phe) c.77-1329C>T (n.77-1329C>T) | |
| 16 | g.51138881G>C | CA395880616 | SALL1 | c.3341C>G (p.Ser1114Cys) c.3050C>G (p.Ser1017Cys) c.77-1329C>G (n.77-1329C>G) | |
| 16 | g.51138881G>T | CA395880614 | SALL1 | c.3341C>A (p.Ser1114Tyr) c.3050C>A (p.Ser1017Tyr) c.77-1329C>A (n.77-1329C>A) | gnomAD v4 |
| 16 | g.51138882A>C | CA395880618 | SALL1 | c.3340T>G (p.Ser1114Ala) c.3049T>G (p.Ser1017Ala) c.77-1330T>G (n.77-1330T>G) | |
| 16 | g.51138882A>G | CA395880621 | SALL1 | c.3340T>C (p.Ser1114Pro) c.3049T>C (p.Ser1017Pro) c.77-1330T>C (n.77-1330T>C) | |
| 16 | g.51138882A>T | CA395880620 | SALL1 | c.3340T>A (p.Ser1114Thr) c.3049T>A (p.Ser1017Thr) c.77-1330T>A (n.77-1330T>A) |