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.51784450dup | CA9911953 | SALL4 | c.2983dup (p.Val995GlyfsTer16) c.652dup (p.Val218GlyfsTer16) c.1672dup (p.Val558GlyfsTer16) c.2677dup (p.Val893GlyfsTer16) c.2857dup (p.Val953GlyfsTer16) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784450del | CA9911954 | SALL4 | c.2983del (p.Val995PhefsTer14) c.652del (p.Val218PhefsTer14) c.1672del (p.Val558PhefsTer14) c.2677del (p.Val893PhefsTer14) c.2857del (p.Val953PhefsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51784450C>A | CA9911957 | SALL4 | c.2977G>T (p.Gly993Trp) c.646G>T (p.Gly216Trp) c.1666G>T (p.Gly556Trp) c.2671G>T (p.Gly891Trp) c.2851G>T (p.Gly951Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784450C= | CA2369155284 | SALL4 | c.2977G= (p.Gly993=) c.646G= (p.Gly216=) c.1666G= (p.Gly556=) c.2671G= (p.Gly891=) c.2851G= (p.Gly951=) | |
| 20 | g.51784450C>G | CA9911958 | SALL4 | c.2977G>C (p.Gly993Arg) c.646G>C (p.Gly216Arg) c.1666G>C (p.Gly556Arg) c.2671G>C (p.Gly891Arg) c.2851G>C (p.Gly951Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784450C>T | CA245393 | SALL4 | c.2977G>A (p.Gly993Arg) c.646G>A (p.Gly216Arg) c.1666G>A (p.Gly556Arg) c.2671G>A (p.Gly891Arg) c.2851G>A (p.Gly951Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784451A= | CA2369155285 | SALL4 | c.2976T= (p.Ser992=) c.645T= (p.Ser215=) c.1665T= (p.Ser555=) c.2670T= (p.Ser890=) c.2850T= (p.Ser950=) | |
| 20 | g.51784451A>C | CA409005923 | SALL4 | c.2976T>G (p.Ser992Arg) c.645T>G (p.Ser215Arg) c.1665T>G (p.Ser555Arg) c.2670T>G (p.Ser890Arg) c.2850T>G (p.Ser950Arg) | dbSNP gnomAD v2 |
| 20 | g.51784451A>G | CA511025812 | SALL4 | c.2976T>C (p.Ser992=) c.645T>C (p.Ser215=) c.1665T>C (p.Ser555=) c.2670T>C (p.Ser890=) c.2850T>C (p.Ser950=) | COSMIC |
| 20 | g.51784451A>T | CA409005924 | SALL4 | c.2976T>A (p.Ser992Arg) c.645T>A (p.Ser215Arg) c.1665T>A (p.Ser555Arg) c.2670T>A (p.Ser890Arg) c.2850T>A (p.Ser950Arg) | |
| 20 | g.51784452C>A | CA409005925 | SALL4 | c.2975G>T (p.Ser992Ile) c.644G>T (p.Ser215Ile) c.1664G>T (p.Ser555Ile) c.2669G>T (p.Ser890Ile) c.2849G>T (p.Ser950Ile) | gnomAD v4 |
| 20 | g.51784452C>G | CA409005927 | SALL4 | c.2975G>C (p.Ser992Thr) c.644G>C (p.Ser215Thr) c.1664G>C (p.Ser555Thr) c.2669G>C (p.Ser890Thr) c.2849G>C (p.Ser950Thr) | |
| 20 | g.51784452C>T | CA409005926 | SALL4 | c.2975G>A (p.Ser992Asn) c.644G>A (p.Ser215Asn) c.1664G>A (p.Ser555Asn) c.2669G>A (p.Ser890Asn) c.2849G>A (p.Ser950Asn) | |
| 20 | g.51784453T>A | CA409005928 | SALL4 | c.2974A>T (p.Ser992Cys) c.643A>T (p.Ser215Cys) c.1663A>T (p.Ser555Cys) c.2668A>T (p.Ser890Cys) c.2848A>T (p.Ser950Cys) | |
| 20 | g.51784453T>C | CA9911959 | SALL4 | c.2974A>G (p.Ser992Gly) c.643A>G (p.Ser215Gly) c.1663A>G (p.Ser555Gly) c.2668A>G (p.Ser890Gly) c.2848A>G (p.Ser950Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784453T>G | CA409005929 | SALL4 | c.2974A>C (p.Ser992Arg) c.643A>C (p.Ser215Arg) c.1663A>C (p.Ser555Arg) c.2668A>C (p.Ser890Arg) c.2848A>C (p.Ser950Arg) | COSMIC |
| 20 | g.51784453T= | CA2369155286 | SALL4 | c.2974A= (p.Ser992=) c.643A= (p.Ser215=) c.1663A= (p.Ser555=) c.2668A= (p.Ser890=) c.2848A= (p.Ser950=) | |
| 20 | g.51784454C>A | CA409005930 | SALL4 | c.2973G>T (p.Gln991His) c.642G>T (p.Gln214His) c.1662G>T (p.Gln554His) c.2667G>T (p.Gln889His) c.2847G>T (p.Gln949His) | |
| 20 | g.51784454C= | CA2369155287 | SALL4 | c.2973G= (p.Gln991=) c.642G= (p.Gln214=) c.1662G= (p.Gln554=) c.2667G= (p.Gln889=) c.2847G= (p.Gln949=) | |
| 20 | g.51784454C>G | CA409005931 | SALL4 | c.2973G>C (p.Gln991His) c.642G>C (p.Gln214His) c.1662G>C (p.Gln554His) c.2667G>C (p.Gln889His) c.2847G>C (p.Gln949His) | |
| 20 | g.51784454C>T | CA511025817 | SALL4 | c.2973G>A (p.Gln991=) c.642G>A (p.Gln214=) c.1662G>A (p.Gln554=) c.2667G>A (p.Gln889=) c.2847G>A (p.Gln949=) | dbSNP |
| 20 | g.51784455T>A | CA409005932 | SALL4 | c.2972A>T (p.Gln991Leu) c.641A>T (p.Gln214Leu) c.1661A>T (p.Gln554Leu) c.2666A>T (p.Gln889Leu) c.2846A>T (p.Gln949Leu) | |
| 20 | g.51784455T>C | CA409005933 | SALL4 | c.2972A>G (p.Gln991Arg) c.641A>G (p.Gln214Arg) c.1661A>G (p.Gln554Arg) c.2666A>G (p.Gln889Arg) c.2846A>G (p.Gln949Arg) | |
| 20 | g.51784455T>G | CA409005934 | SALL4 | c.2972A>C (p.Gln991Pro) c.641A>C (p.Gln214Pro) c.1661A>C (p.Gln554Pro) c.2666A>C (p.Gln889Pro) c.2846A>C (p.Gln949Pro) | |
| 20 | g.51784456G>A | CA409005935 | SALL4 | c.2971C>T (p.Gln991Ter) c.640C>T (p.Gln214Ter) c.1660C>T (p.Gln554Ter) c.2665C>T (p.Gln889Ter) c.2845C>T (p.Gln949Ter) | |
| 20 | g.51784456G>C | CA409005936 | SALL4 | c.2971C>G (p.Gln991Glu) c.640C>G (p.Gln214Glu) c.1660C>G (p.Gln554Glu) c.2665C>G (p.Gln889Glu) c.2845C>G (p.Gln949Glu) | |
| 20 | g.51784456G>T | CA409005937 | SALL4 | c.2971C>A (p.Gln991Lys) c.640C>A (p.Gln214Lys) c.1660C>A (p.Gln554Lys) c.2665C>A (p.Gln889Lys) c.2845C>A (p.Gln949Lys) | |
| 20 | g.51784457G>A | CA511025823 | SALL4 | c.2970C>T (p.Ile990=) c.639C>T (p.Ile213=) c.1659C>T (p.Ile553=) c.2664C>T (p.Ile888=) c.2844C>T (p.Ile948=) | |
| 20 | g.51784457G>C | CA409005938 | SALL4 | c.2970C>G (p.Ile990Met) c.639C>G (p.Ile213Met) c.1659C>G (p.Ile553Met) c.2664C>G (p.Ile888Met) c.2844C>G (p.Ile948Met) | |
| 20 | g.51784457G>T | CA511025822 | SALL4 | c.2970C>A (p.Ile990=) c.639C>A (p.Ile213=) c.1659C>A (p.Ile553=) c.2664C>A (p.Ile888=) c.2844C>A (p.Ile948=) | gnomAD v4 |
| 20 | g.51784458A>C | CA409005941 | SALL4 | c.2969T>G (p.Ile990Ser) c.638T>G (p.Ile213Ser) c.1658T>G (p.Ile553Ser) c.2663T>G (p.Ile888Ser) c.2843T>G (p.Ile948Ser) | |
| 20 | g.51784458A>G | CA409005939 | SALL4 | c.2969T>C (p.Ile990Thr) c.638T>C (p.Ile213Thr) c.1658T>C (p.Ile553Thr) c.2663T>C (p.Ile888Thr) c.2843T>C (p.Ile948Thr) | |
| 20 | g.51784458A>T | CA409005940 | SALL4 | c.2969T>A (p.Ile990Asn) c.638T>A (p.Ile213Asn) c.1658T>A (p.Ile553Asn) c.2663T>A (p.Ile888Asn) c.2843T>A (p.Ile948Asn) | |
| 20 | g.51784459T>A | CA409005942 | SALL4 | c.2968A>T (p.Ile990Phe) c.637A>T (p.Ile213Phe) c.1657A>T (p.Ile553Phe) c.2662A>T (p.Ile888Phe) c.2842A>T (p.Ile948Phe) | |
| 20 | g.51784459T>C | CA409005943 | SALL4 | c.2968A>G (p.Ile990Val) c.637A>G (p.Ile213Val) c.1657A>G (p.Ile553Val) c.2662A>G (p.Ile888Val) c.2842A>G (p.Ile948Val) | gnomAD v4 |
| 20 | g.51784459T>G | CA409005944 | SALL4 | c.2968A>C (p.Ile990Leu) c.637A>C (p.Ile213Leu) c.1657A>C (p.Ile553Leu) c.2662A>C (p.Ile888Leu) c.2842A>C (p.Ile948Leu) | |
| 20 | g.51784460C>A | CA511025824 | SALL4 | c.2967G>T (p.Val989=) c.636G>T (p.Val212=) c.1656G>T (p.Val552=) c.2661G>T (p.Val887=) c.2841G>T (p.Val947=) | COSMIC |
| 20 | g.51784460C>G | CA511025825 | SALL4 | c.2967G>C (p.Val989=) c.636G>C (p.Val212=) c.1656G>C (p.Val552=) c.2661G>C (p.Val887=) c.2841G>C (p.Val947=) | |
| 20 | g.51784460C>T | CA511025826 | SALL4 | c.2967G>A (p.Val989=) c.636G>A (p.Val212=) c.1656G>A (p.Val552=) c.2661G>A (p.Val887=) c.2841G>A (p.Val947=) | gnomAD v4 |
| 20 | g.51784461A>C | CA409005945 | SALL4 | c.2966T>G (p.Val989Gly) c.635T>G (p.Val212Gly) c.1655T>G (p.Val552Gly) c.2660T>G (p.Val887Gly) c.2840T>G (p.Val947Gly) | |
| 20 | g.51784461A>G | CA409005946 | SALL4 | c.2966T>C (p.Val989Ala) c.635T>C (p.Val212Ala) c.1655T>C (p.Val552Ala) c.2660T>C (p.Val887Ala) c.2840T>C (p.Val947Ala) | |
| 20 | g.51784461A>T | CA409005947 | SALL4 | c.2966T>A (p.Val989Glu) c.635T>A (p.Val212Glu) c.1655T>A (p.Val552Glu) c.2660T>A (p.Val887Glu) c.2840T>A (p.Val947Glu) | |
| 20 | g.51784462C>A | CA409005948 | SALL4 | c.2965G>T (p.Val989Leu) c.634G>T (p.Val212Leu) c.1654G>T (p.Val552Leu) c.2659G>T (p.Val887Leu) c.2839G>T (p.Val947Leu) | |
| 20 | g.51784462C>G | CA409005949 | SALL4 | c.2965G>C (p.Val989Leu) c.634G>C (p.Val212Leu) c.1654G>C (p.Val552Leu) c.2659G>C (p.Val887Leu) c.2839G>C (p.Val947Leu) | |
| 20 | g.51784462C>T | CA409005950 | SALL4 | c.2965G>A (p.Val989Met) c.634G>A (p.Val212Met) c.1654G>A (p.Val552Met) c.2659G>A (p.Val887Met) c.2839G>A (p.Val947Met) | |
| 20 | g.51784463A>C | CA511025827 | SALL4 | c.2964T>G (p.Ser988=) c.633T>G (p.Ser211=) c.1653T>G (p.Ser551=) c.2658T>G (p.Ser886=) c.2838T>G (p.Ser946=) | |
| 20 | g.51784463A>G | CA511025828 | SALL4 | c.2964T>C (p.Ser988=) c.633T>C (p.Ser211=) c.1653T>C (p.Ser551=) c.2658T>C (p.Ser886=) c.2838T>C (p.Ser946=) | |
| 20 | g.51784463A>T | CA511025830 | SALL4 | c.2964T>A (p.Ser988=) c.633T>A (p.Ser211=) c.1653T>A (p.Ser551=) c.2658T>A (p.Ser886=) c.2838T>A (p.Ser946=) | |
| 20 | g.51784464G>A | CA409005951 | SALL4 | c.2963C>T (p.Ser988Phe) c.632C>T (p.Ser211Phe) c.1652C>T (p.Ser551Phe) c.2657C>T (p.Ser886Phe) c.2837C>T (p.Ser946Phe) |