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 |
|---|---|---|---|---|---|
| 20 | g.51784304_51785229delinsCTAAGGCAGGAGAATCACTTGAACCCAGAAT | CA645610833 | SALL4 | c.2743-545_3123delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.412-545_792delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.1432-545_1812delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2437-545_2817delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2617-545_2997delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG | COSMIC |
| 20 | g.51784492C>A | CA409006010 | SALL4 | c.2935G>T (p.Gly979Cys) c.604G>T (p.Gly202Cys) c.1624G>T (p.Gly542Cys) c.2629G>T (p.Gly877Cys) c.2809G>T (p.Gly937Cys) | dbSNP |
| 20 | g.51784492C= | CA2369155301 | SALL4 | c.2935G= (p.Gly979=) c.604G= (p.Gly202=) c.1624G= (p.Gly542=) c.2629G= (p.Gly877=) c.2809G= (p.Gly937=) | |
| 20 | g.51784492C>G | CA409006011 | SALL4 | c.2935G>C (p.Gly979Arg) c.604G>C (p.Gly202Arg) c.1624G>C (p.Gly542Arg) c.2629G>C (p.Gly877Arg) c.2809G>C (p.Gly937Arg) | |
| 20 | g.51784492C>T | CA9911966 | SALL4 | c.2935G>A (p.Gly979Ser) c.604G>A (p.Gly202Ser) c.1624G>A (p.Gly542Ser) c.2629G>A (p.Gly877Ser) c.2809G>A (p.Gly937Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784493G>A | CA9911967 | SALL4 | c.2934C>T (p.Gly978=) c.603C>T (p.Gly201=) c.1623C>T (p.Gly541=) c.2628C>T (p.Gly876=) c.2808C>T (p.Gly936=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784493G>C | CA511025657 | SALL4 | c.2934C>G (p.Gly978=) c.603C>G (p.Gly201=) c.1623C>G (p.Gly541=) c.2628C>G (p.Gly876=) c.2808C>G (p.Gly936=) | |
| 20 | g.51784493G= | CA2369155302 | SALL4 | c.2934C= (p.Gly978=) c.603C= (p.Gly201=) c.1623C= (p.Gly541=) c.2628C= (p.Gly876=) c.2808C= (p.Gly936=) | |
| 20 | g.51784493G>T | CA9911968 | SALL4 | c.2934C>A (p.Gly978=) c.603C>A (p.Gly201=) c.1623C>A (p.Gly541=) c.2628C>A (p.Gly876=) c.2808C>A (p.Gly936=) | dbSNP ExAC gnomAD v2 |
| 20 | g.51784494C>A | CA409006012 | SALL4 | c.2933G>T (p.Gly978Val) c.602G>T (p.Gly201Val) c.1622G>T (p.Gly541Val) c.2627G>T (p.Gly876Val) c.2807G>T (p.Gly936Val) | |
| 20 | g.51784494C>G | CA409006014 | SALL4 | c.2933G>C (p.Gly978Ala) c.602G>C (p.Gly201Ala) c.1622G>C (p.Gly541Ala) c.2627G>C (p.Gly876Ala) c.2807G>C (p.Gly936Ala) | |
| 20 | g.51784494C>T | CA409006013 | SALL4 | c.2933G>A (p.Gly978Asp) c.602G>A (p.Gly201Asp) c.1622G>A (p.Gly541Asp) c.2627G>A (p.Gly876Asp) c.2807G>A (p.Gly936Asp) | |
| 20 | g.51784495C>A | CA409006015 | SALL4 | c.2932G>T (p.Gly978Cys) c.601G>T (p.Gly201Cys) c.1621G>T (p.Gly541Cys) c.2626G>T (p.Gly876Cys) c.2806G>T (p.Gly936Cys) | |
| 20 | g.51784495C= | CA2369155303 | SALL4 | c.2932G= (p.Gly978=) c.601G= (p.Gly201=) c.1621G= (p.Gly541=) c.2626G= (p.Gly876=) c.2806G= (p.Gly936=) | |
| 20 | g.51784495C>G | CA409006016 | SALL4 | c.2932G>C (p.Gly978Arg) c.601G>C (p.Gly201Arg) c.1621G>C (p.Gly541Arg) c.2626G>C (p.Gly876Arg) c.2806G>C (p.Gly936Arg) | |
| 20 | g.51784495C>T | CA10652629 | SALL4 | c.2932G>A (p.Gly978Ser) c.601G>A (p.Gly201Ser) c.1621G>A (p.Gly541Ser) c.2626G>A (p.Gly876Ser) c.2806G>A (p.Gly936Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784496A= | CA2369155304 | SALL4 | c.2931T= (p.Asn977=) c.600T= (p.Asn200=) c.1620T= (p.Asn540=) c.2625T= (p.Asn875=) c.2805T= (p.Asn935=) | |
| 20 | g.51784496A>C | CA409006017 | SALL4 | c.2931T>G (p.Asn977Lys) c.600T>G (p.Asn200Lys) c.1620T>G (p.Asn540Lys) c.2625T>G (p.Asn875Lys) c.2805T>G (p.Asn935Lys) | |
| 20 | g.51784496A>G | CA511025659 | SALL4 | c.2931T>C (p.Asn977=) c.600T>C (p.Asn200=) c.1620T>C (p.Asn540=) c.2625T>C (p.Asn875=) c.2805T>C (p.Asn935=) | dbSNP |
| 20 | g.51784496A>T | CA409006018 | SALL4 | c.2931T>A (p.Asn977Lys) c.600T>A (p.Asn200Lys) c.1620T>A (p.Asn540Lys) c.2625T>A (p.Asn875Lys) c.2805T>A (p.Asn935Lys) | |
| 20 | g.51784497T>A | CA409006019 | SALL4 | c.2930A>T (p.Asn977Ile) c.599A>T (p.Asn200Ile) c.1619A>T (p.Asn540Ile) c.2624A>T (p.Asn875Ile) c.2804A>T (p.Asn935Ile) | gnomAD v4 |
| 20 | g.51784497T>C | CA9911969 | SALL4 | c.2930A>G (p.Asn977Ser) c.599A>G (p.Asn200Ser) c.1619A>G (p.Asn540Ser) c.2624A>G (p.Asn875Ser) c.2804A>G (p.Asn935Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784497T>G | CA409006020 | SALL4 | c.2930A>C (p.Asn977Thr) c.599A>C (p.Asn200Thr) c.1619A>C (p.Asn540Thr) c.2624A>C (p.Asn875Thr) c.2804A>C (p.Asn935Thr) | |
| 20 | g.51784497T= | CA2369155305 | SALL4 | c.2930A= (p.Asn977=) c.599A= (p.Asn200=) c.1619A= (p.Asn540=) c.2624A= (p.Asn875=) c.2804A= (p.Asn935=) | |
| 20 | g.51784498T>A | CA409006021 | SALL4 | c.2929A>T (p.Asn977Tyr) c.598A>T (p.Asn200Tyr) c.1618A>T (p.Asn540Tyr) c.2623A>T (p.Asn875Tyr) c.2803A>T (p.Asn935Tyr) | |
| 20 | g.51784498T>C | CA409006022 | SALL4 | c.2929A>G (p.Asn977Asp) c.598A>G (p.Asn200Asp) c.1618A>G (p.Asn540Asp) c.2623A>G (p.Asn875Asp) c.2803A>G (p.Asn935Asp) | gnomAD v4 |
| 20 | g.51784498T>G | CA409006023 | SALL4 | c.2929A>C (p.Asn977His) c.598A>C (p.Asn200His) c.1618A>C (p.Asn540His) c.2623A>C (p.Asn875His) c.2803A>C (p.Asn935His) | gnomAD v4 |
| 20 | g.51784499G>A | CA511025665 | SALL4 | c.2928C>T (p.Leu976=) c.597C>T (p.Leu199=) c.1617C>T (p.Leu539=) c.2622C>T (p.Leu874=) c.2802C>T (p.Leu934=) | |
| 20 | g.51784499G>C | CA511025664 | SALL4 | c.2928C>G (p.Leu976=) c.597C>G (p.Leu199=) c.1617C>G (p.Leu539=) c.2622C>G (p.Leu874=) c.2802C>G (p.Leu934=) | |
| 20 | g.51784499G>T | CA511025662 | SALL4 | c.2928C>A (p.Leu976=) c.597C>A (p.Leu199=) c.1617C>A (p.Leu539=) c.2622C>A (p.Leu874=) c.2802C>A (p.Leu934=) | |
| 20 | g.51784500A>C | CA409006024 | SALL4 | c.2927T>G (p.Leu976Arg) c.596T>G (p.Leu199Arg) c.1616T>G (p.Leu539Arg) c.2621T>G (p.Leu874Arg) c.2801T>G (p.Leu934Arg) | |
| 20 | g.51784500A>G | CA409006025 | SALL4 | c.2927T>C (p.Leu976Pro) c.596T>C (p.Leu199Pro) c.1616T>C (p.Leu539Pro) c.2621T>C (p.Leu874Pro) c.2801T>C (p.Leu934Pro) | |
| 20 | g.51784500A>T | CA409006026 | SALL4 | c.2927T>A (p.Leu976His) c.596T>A (p.Leu199His) c.1616T>A (p.Leu539His) c.2621T>A (p.Leu874His) c.2801T>A (p.Leu934His) | |
| 20 | g.51784501G>A | CA409006027 | SALL4 | c.2926C>T (p.Leu976Phe) c.595C>T (p.Leu199Phe) c.1615C>T (p.Leu539Phe) c.2620C>T (p.Leu874Phe) c.2800C>T (p.Leu934Phe) | |
| 20 | g.51784501G>C | CA409006028 | SALL4 | c.2926C>G (p.Leu976Val) c.595C>G (p.Leu199Val) c.1615C>G (p.Leu539Val) c.2620C>G (p.Leu874Val) c.2800C>G (p.Leu934Val) | |
| 20 | g.51784501G>T | CA409006029 | SALL4 | c.2926C>A (p.Leu976Ile) c.595C>A (p.Leu199Ile) c.1615C>A (p.Leu539Ile) c.2620C>A (p.Leu874Ile) c.2800C>A (p.Leu934Ile) | |
| 20 | g.51784502C>A | CA409006030 | SALL4 | c.2925G>T (p.Met975Ile) c.594G>T (p.Met198Ile) c.1614G>T (p.Met538Ile) c.2619G>T (p.Met873Ile) c.2799G>T (p.Met933Ile) | |
| 20 | g.51784502C>G | CA409006031 | SALL4 | c.2925G>C (p.Met975Ile) c.594G>C (p.Met198Ile) c.1614G>C (p.Met538Ile) c.2619G>C (p.Met873Ile) c.2799G>C (p.Met933Ile) | |
| 20 | g.51784502C>T | CA409006032 | SALL4 | c.2925G>A (p.Met975Ile) c.594G>A (p.Met198Ile) c.1614G>A (p.Met538Ile) c.2619G>A (p.Met873Ile) c.2799G>A (p.Met933Ile) | |
| 20 | g.51784503A>C | CA409006035 | SALL4 | c.2924T>G (p.Met975Arg) c.593T>G (p.Met198Arg) c.1613T>G (p.Met538Arg) c.2618T>G (p.Met873Arg) c.2798T>G (p.Met933Arg) | |
| 20 | g.51784503A>G | CA409006033 | SALL4 | c.2924T>C (p.Met975Thr) c.593T>C (p.Met198Thr) c.1613T>C (p.Met538Thr) c.2618T>C (p.Met873Thr) c.2798T>C (p.Met933Thr) | gnomAD v4 |
| 20 | g.51784503A>T | CA409006034 | SALL4 | c.2924T>A (p.Met975Lys) c.593T>A (p.Met198Lys) c.1613T>A (p.Met538Lys) c.2618T>A (p.Met873Lys) c.2798T>A (p.Met933Lys) | |
| 20 | g.51784504T>A | CA409006036 | SALL4 | c.2923A>T (p.Met975Leu) c.592A>T (p.Met198Leu) c.1612A>T (p.Met538Leu) c.2617A>T (p.Met873Leu) c.2797A>T (p.Met933Leu) | |
| 20 | g.51784504T>C | CA409006037 | SALL4 | c.2923A>G (p.Met975Val) c.592A>G (p.Met198Val) c.1612A>G (p.Met538Val) c.2617A>G (p.Met873Val) c.2797A>G (p.Met933Val) | |
| 20 | g.51784504T>G | CA409006038 | SALL4 | c.2923A>C (p.Met975Leu) c.592A>C (p.Met198Leu) c.1612A>C (p.Met538Leu) c.2617A>C (p.Met873Leu) c.2797A>C (p.Met933Leu) | |
| 20 | g.51784505G>A | CA511025670 | SALL4 | c.2922C>T (p.Ser974=) c.591C>T (p.Ser197=) c.1611C>T (p.Ser537=) c.2616C>T (p.Ser872=) c.2796C>T (p.Ser932=) | gnomAD v4 |
| 20 | g.51784505G>C | CA409006039 | SALL4 | c.2922C>G (p.Ser974Arg) c.591C>G (p.Ser197Arg) c.1611C>G (p.Ser537Arg) c.2616C>G (p.Ser872Arg) c.2796C>G (p.Ser932Arg) | |
| 20 | g.51784505G>T | CA409006040 | SALL4 | c.2922C>A (p.Ser974Arg) c.591C>A (p.Ser197Arg) c.1611C>A (p.Ser537Arg) c.2616C>A (p.Ser872Arg) c.2796C>A (p.Ser932Arg) | |
| 20 | g.51784506C>A | CA409006041 | SALL4 | c.2921G>T (p.Ser974Ile) c.590G>T (p.Ser197Ile) c.1610G>T (p.Ser537Ile) c.2615G>T (p.Ser872Ile) c.2795G>T (p.Ser932Ile) | |
| 20 | g.51784506C= | CA2369155306 | SALL4 | c.2921G= (p.Ser974=) c.590G= (p.Ser197=) c.1610G= (p.Ser537=) c.2615G= (p.Ser872=) c.2795G= (p.Ser932=) |