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.51784350T>A | CA409005725 | SALL4 | c.3077A>T (p.Asp1026Val) c.746A>T (p.Asp249Val) c.1766A>T (p.Asp589Val) c.2771A>T (p.Asp924Val) c.2951A>T (p.Asp984Val) | |
| 20 | g.51784350T>C | CA409005727 | SALL4 | c.3077A>G (p.Asp1026Gly) c.746A>G (p.Asp249Gly) c.1766A>G (p.Asp589Gly) c.2771A>G (p.Asp924Gly) c.2951A>G (p.Asp984Gly) | |
| 20 | g.51784350T>G | CA409005726 | SALL4 | c.3077A>C (p.Asp1026Ala) c.746A>C (p.Asp249Ala) c.1766A>C (p.Asp589Ala) c.2771A>C (p.Asp924Ala) c.2951A>C (p.Asp984Ala) | |
| 20 | g.51784351C>A | CA409005728 | SALL4 | c.3076G>T (p.Asp1026Tyr) c.745G>T (p.Asp249Tyr) c.1765G>T (p.Asp589Tyr) c.2770G>T (p.Asp924Tyr) c.2950G>T (p.Asp984Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784351C= | CA2369155230 | SALL4 | c.3076G= (p.Asp1026=) c.745G= (p.Asp249=) c.1765G= (p.Asp589=) c.2770G= (p.Asp924=) c.2950G= (p.Asp984=) | |
| 20 | g.51784351C>G | CA409005729 | SALL4 | c.3076G>C (p.Asp1026His) c.745G>C (p.Asp249His) c.1765G>C (p.Asp589His) c.2770G>C (p.Asp924His) c.2950G>C (p.Asp984His) | |
| 20 | g.51784351C>T | CA409005730 | SALL4 | c.3076G>A (p.Asp1026Asn) c.745G>A (p.Asp249Asn) c.1765G>A (p.Asp589Asn) c.2770G>A (p.Asp924Asn) c.2950G>A (p.Asp984Asn) | |
| 20 | g.51784352T>A | CA511025638 | SALL4 | c.3075A>T (p.Ala1025=) c.744A>T (p.Ala248=) c.1764A>T (p.Ala588=) c.2769A>T (p.Ala923=) c.2949A>T (p.Ala983=) | |
| 20 | g.51784352T>C | CA9911927 | SALL4 | c.3075A>G (p.Ala1025=) c.744A>G (p.Ala248=) c.1764A>G (p.Ala588=) c.2769A>G (p.Ala923=) c.2949A>G (p.Ala983=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.51784352T>G | CA511025639 | SALL4 | c.3075A>C (p.Ala1025=) c.744A>C (p.Ala248=) c.1764A>C (p.Ala588=) c.2769A>C (p.Ala923=) c.2949A>C (p.Ala983=) | |
| 20 | g.51784352T= | CA2369155231 | SALL4 | c.3075A= (p.Ala1025=) c.744A= (p.Ala248=) c.1764A= (p.Ala588=) c.2769A= (p.Ala923=) c.2949A= (p.Ala983=) | |
| 20 | g.51784353G>A | CA409005731 | SALL4 | c.3074C>T (p.Ala1025Val) c.743C>T (p.Ala248Val) c.1763C>T (p.Ala588Val) c.2768C>T (p.Ala923Val) c.2948C>T (p.Ala983Val) | |
| 20 | g.51784353G>C | CA409005732 | SALL4 | c.3074C>G (p.Ala1025Gly) c.743C>G (p.Ala248Gly) c.1763C>G (p.Ala588Gly) c.2768C>G (p.Ala923Gly) c.2948C>G (p.Ala983Gly) | |
| 20 | g.51784353G= | CA2369155232 | SALL4 | c.3074C= (p.Ala1025=) c.743C= (p.Ala248=) c.1763C= (p.Ala588=) c.2768C= (p.Ala923=) c.2948C= (p.Ala983=) | |
| 20 | g.51784353G>T | CA409005733 | SALL4 | c.3074C>A (p.Ala1025Glu) c.743C>A (p.Ala248Glu) c.1763C>A (p.Ala588Glu) c.2768C>A (p.Ala923Glu) c.2948C>A (p.Ala983Glu) | dbSNP |
| 20 | g.51784354C>A | CA409005734 | SALL4 | c.3073G>T (p.Ala1025Ser) c.742G>T (p.Ala248Ser) c.1762G>T (p.Ala588Ser) c.2767G>T (p.Ala923Ser) c.2947G>T (p.Ala983Ser) | |
| 20 | g.51784354C>G | CA409005735 | SALL4 | c.3073G>C (p.Ala1025Pro) c.742G>C (p.Ala248Pro) c.1762G>C (p.Ala588Pro) c.2767G>C (p.Ala923Pro) c.2947G>C (p.Ala983Pro) | |
| 20 | g.51784354C>T | CA409005736 | SALL4 | c.3073G>A (p.Ala1025Thr) c.742G>A (p.Ala248Thr) c.1762G>A (p.Ala588Thr) c.2767G>A (p.Ala923Thr) c.2947G>A (p.Ala983Thr) | |
| 20 | g.51784355A= | CA2369155233 | SALL4 | c.3072T= (p.Ser1024=) c.741T= (p.Ser247=) c.1761T= (p.Ser587=) c.2766T= (p.Ser922=) c.2946T= (p.Ser982=) | |
| 20 | g.51784355A>C | CA409005737 | SALL4 | c.3072T>G (p.Ser1024Arg) c.741T>G (p.Ser247Arg) c.1761T>G (p.Ser587Arg) c.2766T>G (p.Ser922Arg) c.2946T>G (p.Ser982Arg) | |
| 20 | g.51784355A>G | CA511025643 | SALL4 | c.3072T>C (p.Ser1024=) c.741T>C (p.Ser247=) c.1761T>C (p.Ser587=) c.2766T>C (p.Ser922=) c.2946T>C (p.Ser982=) | |
| 20 | g.51784355A>T | CA9911928 | SALL4 | c.3072T>A (p.Ser1024Arg) c.741T>A (p.Ser247Arg) c.1761T>A (p.Ser587Arg) c.2766T>A (p.Ser922Arg) c.2946T>A (p.Ser982Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784356C>A | CA315365765 | SALL4 | c.3071G>T (p.Ser1024Ile) c.740G>T (p.Ser247Ile) c.1760G>T (p.Ser587Ile) c.2765G>T (p.Ser922Ile) c.2945G>T (p.Ser982Ile) | dbSNP |
| 20 | g.51784356C= | CA2369155234 | SALL4 | c.3071G= (p.Ser1024=) c.740G= (p.Ser247=) c.1760G= (p.Ser587=) c.2765G= (p.Ser922=) c.2945G= (p.Ser982=) | |
| 20 | g.51784356C>G | CA409005739 | SALL4 | c.3071G>C (p.Ser1024Thr) c.740G>C (p.Ser247Thr) c.1760G>C (p.Ser587Thr) c.2765G>C (p.Ser922Thr) c.2945G>C (p.Ser982Thr) | |
| 20 | g.51784356C>T | CA409005738 | SALL4 | c.3071G>A (p.Ser1024Asn) c.740G>A (p.Ser247Asn) c.1760G>A (p.Ser587Asn) c.2765G>A (p.Ser922Asn) c.2945G>A (p.Ser982Asn) | |
| 20 | g.51784357T>A | CA409005740 | SALL4 | c.3070A>T (p.Ser1024Cys) c.739A>T (p.Ser247Cys) c.1759A>T (p.Ser587Cys) c.2764A>T (p.Ser922Cys) c.2944A>T (p.Ser982Cys) | |
| 20 | g.51784357T>C | CA409005741 | SALL4 | c.3070A>G (p.Ser1024Gly) c.739A>G (p.Ser247Gly) c.1759A>G (p.Ser587Gly) c.2764A>G (p.Ser922Gly) c.2944A>G (p.Ser982Gly) | |
| 20 | g.51784357T>G | CA409005742 | SALL4 | c.3070A>C (p.Ser1024Arg) c.739A>C (p.Ser247Arg) c.1759A>C (p.Ser587Arg) c.2764A>C (p.Ser922Arg) c.2944A>C (p.Ser982Arg) | |
| 20 | g.51784358G>A | CA9911929 | SALL4 | c.3069C>T (p.Ile1023=) c.738C>T (p.Ile246=) c.1758C>T (p.Ile586=) c.2763C>T (p.Ile921=) c.2943C>T (p.Ile981=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784358G>C | CA409005743 | SALL4 | c.3069C>G (p.Ile1023Met) c.738C>G (p.Ile246Met) c.1758C>G (p.Ile586Met) c.2763C>G (p.Ile921Met) c.2943C>G (p.Ile981Met) | |
| 20 | g.51784358G= | CA2369155235 | SALL4 | c.3069C= (p.Ile1023=) c.738C= (p.Ile246=) c.1758C= (p.Ile586=) c.2763C= (p.Ile921=) c.2943C= (p.Ile981=) | |
| 20 | g.51784358G>T | CA9911930 | SALL4 | c.3069C>A (p.Ile1023=) c.738C>A (p.Ile246=) c.1758C>A (p.Ile586=) c.2763C>A (p.Ile921=) c.2943C>A (p.Ile981=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784359A= | CA2369155236 | SALL4 | c.3068T= (p.Ile1023=) c.737T= (p.Ile246=) c.1757T= (p.Ile586=) c.2762T= (p.Ile921=) c.2942T= (p.Ile981=) | |
| 20 | g.51784359A>C | CA409005746 | SALL4 | c.3068T>G (p.Ile1023Ser) c.737T>G (p.Ile246Ser) c.1757T>G (p.Ile586Ser) c.2762T>G (p.Ile921Ser) c.2942T>G (p.Ile981Ser) | |
| 20 | g.51784359A>G | CA409005744 | SALL4 | c.3068T>C (p.Ile1023Thr) c.737T>C (p.Ile246Thr) c.1757T>C (p.Ile586Thr) c.2762T>C (p.Ile921Thr) c.2942T>C (p.Ile981Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784359A>T | CA409005745 | SALL4 | c.3068T>A (p.Ile1023Asn) c.737T>A (p.Ile246Asn) c.1757T>A (p.Ile586Asn) c.2762T>A (p.Ile921Asn) c.2942T>A (p.Ile981Asn) | |
| 20 | g.51784360T>A | CA409005747 | SALL4 | c.3067A>T (p.Ile1023Phe) c.736A>T (p.Ile246Phe) c.1756A>T (p.Ile586Phe) c.2761A>T (p.Ile921Phe) c.2941A>T (p.Ile981Phe) | dbSNP |
| 20 | g.51784360T>C | CA409005748 | SALL4 | c.3067A>G (p.Ile1023Val) c.736A>G (p.Ile246Val) c.1756A>G (p.Ile586Val) c.2761A>G (p.Ile921Val) c.2941A>G (p.Ile981Val) | dbSNP gnomAD v4 |
| 20 | g.51784360T>G | CA409005749 | SALL4 | c.3067A>C (p.Ile1023Leu) c.736A>C (p.Ile246Leu) c.1756A>C (p.Ile586Leu) c.2761A>C (p.Ile921Leu) c.2941A>C (p.Ile981Leu) | |
| 20 | g.51784360T= | CA2369155237 | SALL4 | c.3067A= (p.Ile1023=) c.736A= (p.Ile246=) c.1756A= (p.Ile586=) c.2761A= (p.Ile921=) c.2941A= (p.Ile981=) | |
| 20 | g.51784361A>C | CA511025650 | SALL4 | c.3066T>G (p.Gly1022=) c.735T>G (p.Gly245=) c.1755T>G (p.Gly585=) c.2760T>G (p.Gly920=) c.2940T>G (p.Gly980=) | |
| 20 | g.51784361A>G | CA511025651 | SALL4 | c.3066T>C (p.Gly1022=) c.735T>C (p.Gly245=) c.1755T>C (p.Gly585=) c.2760T>C (p.Gly920=) c.2940T>C (p.Gly980=) | |
| 20 | g.51784361A>T | CA511025649 | SALL4 | c.3066T>A (p.Gly1022=) c.735T>A (p.Gly245=) c.1755T>A (p.Gly585=) c.2760T>A (p.Gly920=) c.2940T>A (p.Gly980=) | gnomAD v4 |
| 20 | g.51784362C>A | CA409005750 | SALL4 | c.3065G>T (p.Gly1022Val) c.734G>T (p.Gly245Val) c.1754G>T (p.Gly585Val) c.2759G>T (p.Gly920Val) c.2939G>T (p.Gly980Val) | gnomAD v4 |
| 20 | g.51784362C= | CA2369155238 | SALL4 | c.3065G= (p.Gly1022=) c.734G= (p.Gly245=) c.1754G= (p.Gly585=) c.2759G= (p.Gly920=) c.2939G= (p.Gly980=) | |
| 20 | g.51784362C>G | CA315365790 | SALL4 | c.3065G>C (p.Gly1022Ala) c.734G>C (p.Gly245Ala) c.1754G>C (p.Gly585Ala) c.2759G>C (p.Gly920Ala) c.2939G>C (p.Gly980Ala) | dbSNP gnomAD v4 |
| 20 | g.51784362C>T | CA409005751 | SALL4 | c.3065G>A (p.Gly1022Asp) c.734G>A (p.Gly245Asp) c.1754G>A (p.Gly585Asp) c.2759G>A (p.Gly920Asp) c.2939G>A (p.Gly980Asp) | dbSNP |
| 20 | g.51784363C>A | CA409005752 | SALL4 | c.3064G>T (p.Gly1022Cys) c.733G>T (p.Gly245Cys) c.1753G>T (p.Gly585Cys) c.2758G>T (p.Gly920Cys) c.2938G>T (p.Gly980Cys) |