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 |
|---|---|---|---|---|---|
| 2 | g.26475353C>A | CA2658236844 | OTOF | c.3126+6G>T (n.3126+6G>T) c.885+6G>T (n.885+6G>T) c.1056+6G>T (n.1056+6G>T) c.3171+6G>T (n.3171+6G>T) | gnomAD v4 |
| 2 | g.26475354C>T | CA2586968810 | OTOF | c.3126+5G>A (n.3126+5G>A) c.885+5G>A (n.885+5G>A) c.1056+5G>A (n.1056+5G>A) c.3171+5G>A (n.3171+5G>A) | |
| 2 | g.26475355A>G | CA2658236845 | OTOF | c.3126+4T>C (n.3126+4T>C) c.885+4T>C (n.885+4T>C) c.1056+4T>C (n.1056+4T>C) c.3171+4T>C (n.3171+4T>C) | gnomAD v4 |
| 2 | g.26475357A= | CA1239827053 | OTOF | c.3126+2T= (n.3126+2T=) c.885+2T= (n.885+2T=) c.1056+2T= (n.1056+2T=) c.3171+2T= (n.3171+2T=) | |
| 2 | g.26475357A>C | CA346109720 | OTOF | c.3126+2T>G (n.3126+2T>G) c.885+2T>G (n.885+2T>G) c.1056+2T>G (n.1056+2T>G) c.3171+2T>G (n.3171+2T>G) | |
| 2 | g.26475357A>G | CA44397597 | OTOF | c.3126+2T>C (n.3126+2T>C) c.885+2T>C (n.885+2T>C) c.1056+2T>C (n.1056+2T>C) c.3171+2T>C (n.3171+2T>C) | ClinVar dbSNP gnomAD v4 |
| 2 | g.26475357A>T | CA346109729 | OTOF | c.3126+2T>A (n.3126+2T>A) c.885+2T>A (n.885+2T>A) c.1056+2T>A (n.1056+2T>A) c.3171+2T>A (n.3171+2T>A) | |
| 2 | g.26475358C>A | CA346109731 | OTOF | c.3126+1G>T (n.3126+1G>T) c.885+1G>T (n.885+1G>T) c.1056+1G>T (n.1056+1G>T) c.3171+1G>T (n.3171+1G>T) | |
| 2 | g.26475358C>G | CA346109733 | OTOF | c.3126+1G>C (n.3126+1G>C) c.885+1G>C (n.885+1G>C) c.1056+1G>C (n.1056+1G>C) c.3171+1G>C (n.3171+1G>C) | gnomAD v4 |
| 2 | g.26475358C>T | CA346109735 | OTOF | c.3126+1G>A (n.3126+1G>A) c.885+1G>A (n.885+1G>A) c.1056+1G>A (n.1056+1G>A) c.3171+1G>A (n.3171+1G>A) | |
| 2 | g.26475359C>A | CA346109737 | OTOF | c.3126G>T (p.Met1042Ile) c.885G>T (p.Met295Ile) c.1056G>T (p.Met352Ile) c.3171G>T (p.Met1057Ile) | |
| 2 | g.26475359C>G | CA346109739 | OTOF | c.3126G>C (p.Met1042Ile) c.885G>C (p.Met295Ile) c.1056G>C (p.Met352Ile) c.3171G>C (p.Met1057Ile) | |
| 2 | g.26475359C>T | CA346109740 | OTOF | c.3126G>A (p.Met1042Ile) c.885G>A (p.Met295Ile) c.1056G>A (p.Met352Ile) c.3171G>A (p.Met1057Ile) | |
| 2 | g.26475360A>C | CA346109749 | OTOF | c.3125T>G (p.Met1042Arg) c.884T>G (p.Met295Arg) c.1055T>G (p.Met352Arg) c.3170T>G (p.Met1057Arg) | |
| 2 | g.26475360A>G | CA346109742 | OTOF | c.3125T>C (p.Met1042Thr) c.884T>C (p.Met295Thr) c.1055T>C (p.Met352Thr) c.3170T>C (p.Met1057Thr) | gnomAD v4 |
| 2 | g.26475360A>T | CA346109744 | OTOF | c.3125T>A (p.Met1042Lys) c.884T>A (p.Met295Lys) c.1055T>A (p.Met352Lys) c.3170T>A (p.Met1057Lys) | |
| 2 | g.26475361T>A | CA346109752 | OTOF | c.3124A>T (p.Met1042Leu) c.883A>T (p.Met295Leu) c.1054A>T (p.Met352Leu) c.3169A>T (p.Met1057Leu) | |
| 2 | g.26475361T>C | CA185178 | OTOF | c.3124A>G (p.Met1042Val) c.883A>G (p.Met295Val) c.1054A>G (p.Met352Val) c.3169A>G (p.Met1057Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26475361T>G | CA346109754 | OTOF | c.3124A>C (p.Met1042Leu) c.883A>C (p.Met295Leu) c.1054A>C (p.Met352Leu) c.3169A>C (p.Met1057Leu) | |
| 2 | g.26475361T= | CA1239827058 | OTOF | c.3124A= (p.Met1042=) c.883A= (p.Met295=) c.1054A= (p.Met352=) c.3169A= (p.Met1057=) | |
| 2 | g.26475362G>A | CA425204003 | OTOF | c.3123C>T (p.Ser1041=) c.882C>T (p.Ser294=) c.1053C>T (p.Ser351=) c.3168C>T (p.Ser1056=) | gnomAD v4 |
| 2 | g.26475362G>C | CA425204004 | OTOF | c.3123C>G (p.Ser1041=) c.882C>G (p.Ser294=) c.1053C>G (p.Ser351=) c.3168C>G (p.Ser1056=) | |
| 2 | g.26475362G>T | CA425204005 | OTOF | c.3123C>A (p.Ser1041=) c.882C>A (p.Ser294=) c.1053C>A (p.Ser351=) c.3168C>A (p.Ser1056=) | |
| 2 | g.26475363G>A | CA44397601 | OTOF | c.3122C>T (p.Ser1041Phe) c.881C>T (p.Ser294Phe) c.1052C>T (p.Ser351Phe) c.3167C>T (p.Ser1056Phe) | dbSNP |
| 2 | g.26475363G>C | CA346109759 | OTOF | c.3122C>G (p.Ser1041Cys) c.881C>G (p.Ser294Cys) c.1052C>G (p.Ser351Cys) c.3167C>G (p.Ser1056Cys) | |
| 2 | g.26475363G= | CA1239827065 | OTOF | c.3122C= (p.Ser1041=) c.881C= (p.Ser294=) c.1052C= (p.Ser351=) c.3167C= (p.Ser1056=) | |
| 2 | g.26475363G>T | CA346109761 | OTOF | c.3122C>A (p.Ser1041Tyr) c.881C>A (p.Ser294Tyr) c.1052C>A (p.Ser351Tyr) c.3167C>A (p.Ser1056Tyr) | |
| 2 | g.26475364A>C | CA346109764 | OTOF | c.3121T>G (p.Ser1041Ala) c.880T>G (p.Ser294Ala) c.1051T>G (p.Ser351Ala) c.3166T>G (p.Ser1056Ala) | |
| 2 | g.26475364A>G | CA346109768 | OTOF | c.3121T>C (p.Ser1041Pro) c.880T>C (p.Ser294Pro) c.1051T>C (p.Ser351Pro) c.3166T>C (p.Ser1056Pro) | |
| 2 | g.26475364A>T | CA346109771 | OTOF | c.3121T>A (p.Ser1041Thr) c.880T>A (p.Ser294Thr) c.1051T>A (p.Ser351Thr) c.3166T>A (p.Ser1056Thr) | |
| 2 | g.26475365A>C | CA346109772 | OTOF | c.3120T>G (p.Asp1040Glu) c.879T>G (p.Asp293Glu) c.1050T>G (p.Asp350Glu) c.3165T>G (p.Asp1055Glu) | |
| 2 | g.26475365A>G | CA425204006 | OTOF | c.3120T>C (p.Asp1040=) c.879T>C (p.Asp293=) c.1050T>C (p.Asp350=) c.3165T>C (p.Asp1055=) | |
| 2 | g.26475365A>T | CA346109773 | OTOF | c.3120T>A (p.Asp1040Glu) c.879T>A (p.Asp293Glu) c.1050T>A (p.Asp350Glu) c.3165T>A (p.Asp1055Glu) | |
| 2 | g.26475366T>A | CA346109780 | OTOF | c.3119A>T (p.Asp1040Val) c.878A>T (p.Asp293Val) c.1049A>T (p.Asp350Val) c.3164A>T (p.Asp1055Val) | |
| 2 | g.26475366T>C | CA346109783 | OTOF | c.3119A>G (p.Asp1040Gly) c.878A>G (p.Asp293Gly) c.1049A>G (p.Asp350Gly) c.3164A>G (p.Asp1055Gly) | dbSNP |
| 2 | g.26475366T>G | CA346109778 | OTOF | c.3119A>C (p.Asp1040Ala) c.878A>C (p.Asp293Ala) c.1049A>C (p.Asp350Ala) c.3164A>C (p.Asp1055Ala) | |
| 2 | g.26475366T= | CA1239827069 | OTOF | c.3119A= (p.Asp1040=) c.878A= (p.Asp293=) c.1049A= (p.Asp350=) c.3164A= (p.Asp1055=) | |
| 2 | g.26475367C>A | CA346109784 | OTOF | c.3118G>T (p.Asp1040Tyr) c.877G>T (p.Asp293Tyr) c.1048G>T (p.Asp350Tyr) c.3163G>T (p.Asp1055Tyr) | |
| 2 | g.26475367C>G | CA346109785 | OTOF | c.3118G>C (p.Asp1040His) c.877G>C (p.Asp293His) c.1048G>C (p.Asp350His) c.3163G>C (p.Asp1055His) | |
| 2 | g.26475367C>T | CA346109786 | OTOF | c.3118G>A (p.Asp1040Asn) c.877G>A (p.Asp293Asn) c.1048G>A (p.Asp350Asn) c.3163G>A (p.Asp1055Asn) | gnomAD v4 |
| 2 | g.26475368C>A | CA346109791 | OTOF | c.3117G>T (p.Gln1039His) c.876G>T (p.Gln292His) c.1047G>T (p.Gln349His) c.3162G>T (p.Gln1054His) | |
| 2 | g.26475368C>G | CA346109792 | OTOF | c.3117G>C (p.Gln1039His) c.876G>C (p.Gln292His) c.1047G>C (p.Gln349His) c.3162G>C (p.Gln1054His) | |
| 2 | g.26475368C>T | CA425204007 | OTOF | c.3117G>A (p.Gln1039=) c.876G>A (p.Gln292=) c.1047G>A (p.Gln349=) c.3162G>A (p.Gln1054=) | |
| 2 | g.26475369T>A | CA346109801 | OTOF | c.3116A>T (p.Gln1039Leu) c.875A>T (p.Gln292Leu) c.1046A>T (p.Gln349Leu) c.3161A>T (p.Gln1054Leu) | |
| 2 | g.26475369T>C | CA346109796 | OTOF | c.3116A>G (p.Gln1039Arg) c.875A>G (p.Gln292Arg) c.1046A>G (p.Gln349Arg) c.3161A>G (p.Gln1054Arg) | gnomAD v4 |
| 2 | g.26475369T>G | CA346109798 | OTOF | c.3116A>C (p.Gln1039Pro) c.875A>C (p.Gln292Pro) c.1046A>C (p.Gln349Pro) c.3161A>C (p.Gln1054Pro) | |
| 2 | g.26475370G>A | CA346109804 | OTOF | c.3115C>T (p.Gln1039Ter) c.874C>T (p.Gln292Ter) c.1045C>T (p.Gln349Ter) c.3160C>T (p.Gln1054Ter) | |
| 2 | g.26475370G>C | CA346109807 | OTOF | c.3115C>G (p.Gln1039Glu) c.874C>G (p.Gln292Glu) c.1045C>G (p.Gln349Glu) c.3160C>G (p.Gln1054Glu) | |
| 2 | g.26475370G>T | CA346109809 | OTOF | c.3115C>A (p.Gln1039Lys) c.874C>A (p.Gln292Lys) c.1045C>A (p.Gln349Lys) c.3160C>A (p.Gln1054Lys) | |
| 2 | g.26475371del | CA2539487511 | OTOF | c.3115del (p.Gln1039ArgfsTer19) c.874del (p.Gln292ArgfsTer19) c.1045del (p.Gln349ArgfsTer19) c.3160del (p.Gln1054ArgfsTer19) |