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.51788863T>A | CA409006437 | SALL4 | c.2740A>T (p.Lys914Ter) c.409A>T (p.Lys137Ter) c.1429A>T (p.Lys477Ter) c.2434A>T (p.Lys812Ter) c.2614A>T (p.Lys872Ter) | |
| 20 | g.51788863T>C | CA409006438 | SALL4 | c.2740A>G (p.Lys914Glu) c.409A>G (p.Lys137Glu) c.1429A>G (p.Lys477Glu) c.2434A>G (p.Lys812Glu) c.2614A>G (p.Lys872Glu) | |
| 20 | g.51788863T>G | CA409006439 | SALL4 | c.2740A>C (p.Lys914Gln) c.409A>C (p.Lys137Gln) c.1429A>C (p.Lys477Gln) c.2434A>C (p.Lys812Gln) c.2614A>C (p.Lys872Gln) | |
| 20 | g.51788864T>A | CA409006441 | SALL4 | c.2739A>T (p.Leu913Phe) c.408A>T (p.Leu136Phe) c.1428A>T (p.Leu476Phe) c.2433A>T (p.Leu811Phe) c.2613A>T (p.Leu871Phe) | |
| 20 | g.51788864T>C | CA511025671 | SALL4 | c.2739A>G (p.Leu913=) c.408A>G (p.Leu136=) c.1428A>G (p.Leu476=) c.2433A>G (p.Leu811=) c.2613A>G (p.Leu871=) | |
| 20 | g.51788864T>G | CA409006440 | SALL4 | c.2739A>C (p.Leu913Phe) c.408A>C (p.Leu136Phe) c.1428A>C (p.Leu476Phe) c.2433A>C (p.Leu811Phe) c.2613A>C (p.Leu871Phe) | |
| 20 | g.51788865A>C | CA409006442 | SALL4 | c.2738T>G (p.Leu913Ter) c.407T>G (p.Leu136Ter) c.1427T>G (p.Leu476Ter) c.2432T>G (p.Leu811Ter) c.2612T>G (p.Leu871Ter) | |
| 20 | g.51788865A>G | CA409006443 | SALL4 | c.2738T>C (p.Leu913Ser) c.407T>C (p.Leu136Ser) c.1427T>C (p.Leu476Ser) c.2432T>C (p.Leu811Ser) c.2612T>C (p.Leu871Ser) | |
| 20 | g.51788865A>T | CA409006444 | SALL4 | c.2738T>A (p.Leu913Ter) c.407T>A (p.Leu136Ter) c.1427T>A (p.Leu476Ter) c.2432T>A (p.Leu811Ter) c.2612T>A (p.Leu871Ter) | |
| 20 | g.51788866A>C | CA409006445 | SALL4 | c.2737T>G (p.Leu913Val) c.406T>G (p.Leu136Val) c.1426T>G (p.Leu476Val) c.2431T>G (p.Leu811Val) c.2611T>G (p.Leu871Val) | |
| 20 | g.51788866A>G | CA511025674 | SALL4 | c.2737T>C (p.Leu913=) c.406T>C (p.Leu136=) c.1426T>C (p.Leu476=) c.2431T>C (p.Leu811=) c.2611T>C (p.Leu871=) | |
| 20 | g.51788866A>T | CA409006446 | SALL4 | c.2737T>A (p.Leu913Ile) c.406T>A (p.Leu136Ile) c.1426T>A (p.Leu476Ile) c.2431T>A (p.Leu811Ile) c.2611T>A (p.Leu871Ile) | |
| 20 | g.51788867G>A | CA511025675 | SALL4 | c.2736C>T (p.Asn912=) c.405C>T (p.Asn135=) c.1425C>T (p.Asn475=) c.2430C>T (p.Asn810=) c.2610C>T (p.Asn870=) | |
| 20 | g.51788867G>C | CA409006447 | SALL4 | c.2736C>G (p.Asn912Lys) c.405C>G (p.Asn135Lys) c.1425C>G (p.Asn475Lys) c.2430C>G (p.Asn810Lys) c.2610C>G (p.Asn870Lys) | |
| 20 | g.51788867G>T | CA409006448 | SALL4 | c.2736C>A (p.Asn912Lys) c.405C>A (p.Asn135Lys) c.1425C>A (p.Asn475Lys) c.2430C>A (p.Asn810Lys) c.2610C>A (p.Asn870Lys) | |
| 20 | g.51788868T>A | CA409006449 | SALL4 | c.2735A>T (p.Asn912Ile) c.404A>T (p.Asn135Ile) c.1424A>T (p.Asn475Ile) c.2429A>T (p.Asn810Ile) c.2609A>T (p.Asn870Ile) | |
| 20 | g.51788868T>C | CA409006450 | SALL4 | c.2735A>G (p.Asn912Ser) c.404A>G (p.Asn135Ser) c.1424A>G (p.Asn475Ser) c.2429A>G (p.Asn810Ser) c.2609A>G (p.Asn870Ser) | dbSNP |
| 20 | g.51788868T>G | CA409006451 | SALL4 | c.2735A>C (p.Asn912Thr) c.404A>C (p.Asn135Thr) c.1424A>C (p.Asn475Thr) c.2429A>C (p.Asn810Thr) c.2609A>C (p.Asn870Thr) | |
| 20 | g.51788868T= | CA2369157321 | SALL4 | c.2735A= (p.Asn912=) c.404A= (p.Asn135=) c.1424A= (p.Asn475=) c.2429A= (p.Asn810=) c.2609A= (p.Asn870=) | |
| 20 | g.51788869T>A | CA409006452 | SALL4 | c.2734A>T (p.Asn912Tyr) c.403A>T (p.Asn135Tyr) c.1423A>T (p.Asn475Tyr) c.2428A>T (p.Asn810Tyr) c.2608A>T (p.Asn870Tyr) | |
| 20 | g.51788869T>C | CA409006453 | SALL4 | c.2734A>G (p.Asn912Asp) c.403A>G (p.Asn135Asp) c.1423A>G (p.Asn475Asp) c.2428A>G (p.Asn810Asp) c.2608A>G (p.Asn870Asp) | |
| 20 | g.51788869T>G | CA409006454 | SALL4 | c.2734A>C (p.Asn912His) c.403A>C (p.Asn135His) c.1423A>C (p.Asn475His) c.2428A>C (p.Asn810His) c.2608A>C (p.Asn870His) | |
| 20 | g.51788870G>A | CA511025676 | SALL4 | c.2733C>T (p.Gly911=) c.402C>T (p.Gly134=) c.1422C>T (p.Gly474=) c.2427C>T (p.Gly809=) c.2607C>T (p.Gly869=) | |
| 20 | g.51788870G>C | CA511025677 | SALL4 | c.2733C>G (p.Gly911=) c.402C>G (p.Gly134=) c.1422C>G (p.Gly474=) c.2427C>G (p.Gly809=) c.2607C>G (p.Gly869=) | |
| 20 | g.51788870G>T | CA511025678 | SALL4 | c.2733C>A (p.Gly911=) c.402C>A (p.Gly134=) c.1422C>A (p.Gly474=) c.2427C>A (p.Gly809=) c.2607C>A (p.Gly869=) | |
| 20 | g.51788871C>A | CA409006456 | SALL4 | c.2732G>T (p.Gly911Val) c.401G>T (p.Gly134Val) c.1421G>T (p.Gly474Val) c.2426G>T (p.Gly809Val) c.2606G>T (p.Gly869Val) | |
| 20 | g.51788871C>G | CA409006457 | SALL4 | c.2732G>C (p.Gly911Ala) c.401G>C (p.Gly134Ala) c.1421G>C (p.Gly474Ala) c.2426G>C (p.Gly809Ala) c.2606G>C (p.Gly869Ala) | |
| 20 | g.51788871C>T | CA409006455 | SALL4 | c.2732G>A (p.Gly911Asp) c.401G>A (p.Gly134Asp) c.1421G>A (p.Gly474Asp) c.2426G>A (p.Gly809Asp) c.2606G>A (p.Gly869Asp) | |
| 20 | g.51788872C>A | CA409006459 | SALL4 | c.2731G>T (p.Gly911Cys) c.400G>T (p.Gly134Cys) c.1420G>T (p.Gly474Cys) c.2425G>T (p.Gly809Cys) c.2605G>T (p.Gly869Cys) | |
| 20 | g.51788872C>G | CA409006458 | SALL4 | c.2731G>C (p.Gly911Arg) c.400G>C (p.Gly134Arg) c.1420G>C (p.Gly474Arg) c.2425G>C (p.Gly809Arg) c.2605G>C (p.Gly869Arg) | gnomAD v4 |
| 20 | g.51788872C>T | CA409006460 | SALL4 | c.2731G>A (p.Gly911Ser) c.400G>A (p.Gly134Ser) c.1420G>A (p.Gly474Ser) c.2425G>A (p.Gly809Ser) c.2605G>A (p.Gly869Ser) | |
| 20 | g.51788873T>A | CA409006461 | SALL4 | c.2730A>T (p.Lys910Asn) c.399A>T (p.Lys133Asn) c.1419A>T (p.Lys473Asn) c.2424A>T (p.Lys808Asn) c.2604A>T (p.Lys868Asn) | |
| 20 | g.51788873T>C | CA511025682 | SALL4 | c.2730A>G (p.Lys910=) c.399A>G (p.Lys133=) c.1419A>G (p.Lys473=) c.2424A>G (p.Lys808=) c.2604A>G (p.Lys868=) | |
| 20 | g.51788873T>G | CA409006462 | SALL4 | c.2730A>C (p.Lys910Asn) c.399A>C (p.Lys133Asn) c.1419A>C (p.Lys473Asn) c.2424A>C (p.Lys808Asn) c.2604A>C (p.Lys868Asn) | |
| 20 | g.51788874T>A | CA409006463 | SALL4 | c.2729A>T (p.Lys910Ile) c.398A>T (p.Lys133Ile) c.1418A>T (p.Lys473Ile) c.2423A>T (p.Lys808Ile) c.2603A>T (p.Lys868Ile) | |
| 20 | g.51788874T>C | CA409006464 | SALL4 | c.2729A>G (p.Lys910Arg) c.398A>G (p.Lys133Arg) c.1418A>G (p.Lys473Arg) c.2423A>G (p.Lys808Arg) c.2603A>G (p.Lys868Arg) | |
| 20 | g.51788874T>G | CA409006465 | SALL4 | c.2729A>C (p.Lys910Thr) c.398A>C (p.Lys133Thr) c.1418A>C (p.Lys473Thr) c.2423A>C (p.Lys808Thr) c.2603A>C (p.Lys868Thr) | |
| 20 | g.51788875T>A | CA409006466 | SALL4 | c.2728A>T (p.Lys910Ter) c.397A>T (p.Lys133Ter) c.1417A>T (p.Lys473Ter) c.2422A>T (p.Lys808Ter) c.2602A>T (p.Lys868Ter) | |
| 20 | g.51788875T>C | CA409006467 | SALL4 | c.2728A>G (p.Lys910Glu) c.397A>G (p.Lys133Glu) c.1417A>G (p.Lys473Glu) c.2422A>G (p.Lys808Glu) c.2602A>G (p.Lys868Glu) | |
| 20 | g.51788875T>G | CA409006468 | SALL4 | c.2728A>C (p.Lys910Gln) c.397A>C (p.Lys133Gln) c.1417A>C (p.Lys473Gln) c.2422A>C (p.Lys808Gln) c.2602A>C (p.Lys868Gln) | |
| 20 | g.51788876G>A | CA9912029 | SALL4 | c.2727C>T (p.Thr909=) c.396C>T (p.Thr132=) c.1416C>T (p.Thr472=) c.2421C>T (p.Thr807=) c.2601C>T (p.Thr867=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51788876G>C | CA511025686 | SALL4 | c.2727C>G (p.Thr909=) c.396C>G (p.Thr132=) c.1416C>G (p.Thr472=) c.2421C>G (p.Thr807=) c.2601C>G (p.Thr867=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51788876G= | CA2369157322 | SALL4 | c.2727C= (p.Thr909=) c.396C= (p.Thr132=) c.1416C= (p.Thr472=) c.2421C= (p.Thr807=) c.2601C= (p.Thr867=) | |
| 20 | g.51788876G>T | CA511025687 | SALL4 | c.2727C>A (p.Thr909=) c.396C>A (p.Thr132=) c.1416C>A (p.Thr472=) c.2421C>A (p.Thr807=) c.2601C>A (p.Thr867=) | |
| 20 | g.51788877G>A | CA409006469 | SALL4 | c.2726C>T (p.Thr909Ile) c.395C>T (p.Thr132Ile) c.1415C>T (p.Thr472Ile) c.2420C>T (p.Thr807Ile) c.2600C>T (p.Thr867Ile) | |
| 20 | g.51788877G>C | CA409006470 | SALL4 | c.2726C>G (p.Thr909Ser) c.395C>G (p.Thr132Ser) c.1415C>G (p.Thr472Ser) c.2420C>G (p.Thr807Ser) c.2600C>G (p.Thr867Ser) | |
| 20 | g.51788877G>T | CA409006471 | SALL4 | c.2726C>A (p.Thr909Asn) c.395C>A (p.Thr132Asn) c.1415C>A (p.Thr472Asn) c.2420C>A (p.Thr807Asn) c.2600C>A (p.Thr867Asn) | |
| 20 | g.51788878T>A | CA409006474 | SALL4 | c.2725A>T (p.Thr909Ser) c.394A>T (p.Thr132Ser) c.1414A>T (p.Thr472Ser) c.2419A>T (p.Thr807Ser) c.2599A>T (p.Thr867Ser) | |
| 20 | g.51788878T>C | CA409006472 | SALL4 | c.2725A>G (p.Thr909Ala) c.394A>G (p.Thr132Ala) c.1414A>G (p.Thr472Ala) c.2419A>G (p.Thr807Ala) c.2599A>G (p.Thr867Ala) | gnomAD v4 |
| 20 | g.51788878T>G | CA409006473 | SALL4 | c.2725A>C (p.Thr909Pro) c.394A>C (p.Thr132Pro) c.1414A>C (p.Thr472Pro) c.2419A>C (p.Thr807Pro) c.2599A>C (p.Thr867Pro) |