UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169541816C>A | CA343118744 | F5 | c.3274G>T (p.Gly1092Cys) c.3289G>T (p.Gly1097Cys) c.2863G>T (p.Gly955Cys) | |
| 1 | g.169541816C>G | CA343118742 | F5 | c.3274G>C (p.Gly1092Arg) c.3289G>C (p.Gly1097Arg) c.2863G>C (p.Gly955Arg) | |
| 1 | g.169541816C>T | CA343118741 | F5 | c.3274G>A (p.Gly1092Ser) c.3289G>A (p.Gly1097Ser) c.2863G>A (p.Gly955Ser) | |
| 1 | g.169541817A= | CA1206132463 | F5 | c.3273T= (p.Phe1091=) c.3288T= (p.Phe1096=) c.2862T= (p.Phe954=) | |
| 1 | g.169541817A>C | CA343118746 | F5 | c.3273T>G (p.Phe1091Leu) c.3288T>G (p.Phe1096Leu) c.2862T>G (p.Phe954Leu) | dbSNP |
| 1 | g.169541817A>G | CA421930683 | F5 | c.3273T>C (p.Phe1091=) c.3288T>C (p.Phe1096=) c.2862T>C (p.Phe954=) | gnomAD v4 |
| 1 | g.169541817A>T | CA343118748 | F5 | c.3273T>A (p.Phe1091Leu) c.3288T>A (p.Phe1096Leu) c.2862T>A (p.Phe954Leu) | |
| 1 | g.169541818A>C | CA343118750 | F5 | c.3272T>G (p.Phe1091Cys) c.3287T>G (p.Phe1096Cys) c.2861T>G (p.Phe954Cys) | |
| 1 | g.169541818A>G | CA343118751 | F5 | c.3272T>C (p.Phe1091Ser) c.3287T>C (p.Phe1096Ser) c.2861T>C (p.Phe954Ser) | |
| 1 | g.169541818A>T | CA343118753 | F5 | c.3272T>A (p.Phe1091Tyr) c.3287T>A (p.Phe1096Tyr) c.2861T>A (p.Phe954Tyr) | |
| 1 | g.169541819A= | CA1206132464 | F5 | c.3271T= (p.Phe1091=) c.3286T= (p.Phe1096=) c.2860T= (p.Phe954=) | |
| 1 | g.169541819A>C | CA343118755 | F5 | c.3271T>G (p.Phe1091Val) c.3286T>G (p.Phe1096Val) c.2860T>G (p.Phe954Val) | |
| 1 | g.169541819A>G | CA343118757 | F5 | c.3271T>C (p.Phe1091Leu) c.3286T>C (p.Phe1096Leu) c.2860T>C (p.Phe954Leu) | |
| 1 | g.169541819A>T | CA1233936 | F5 | c.3271T>A (p.Phe1091Ile) c.3286T>A (p.Phe1096Ile) c.2860T>A (p.Phe954Ile) | dbSNP ExAC gnomAD v2 |
| 1 | g.169541819_169541820insC | CA2746577668 | F5 | c.3270_3271insG (p.Phe1091ValfsTer9) c.3285_3286insG (p.Phe1096ValfsTer9) c.2859_2860insG (p.Phe954ValfsTer9) | |
| 1 | g.169541819_169541820insCACACCCAACAC | CA2746577669 | F5 | c.3270_3271insGTGTTGGGTGTG (p.Asp1090_Phe1091insValLeuGlyVal) c.3285_3286insGTGTTGGGTGTG (p.Asp1095_Phe1096insValLeuGlyVal) c.2859_2860insGTGTTGGGTGTG (p.Asp953_Phe954insValLeuGlyVal) | |
| 1 | g.169541820A>C | CA343118761 | F5 | c.3270T>G (p.Asp1090Glu) c.3285T>G (p.Asp1095Glu) c.2859T>G (p.Asp953Glu) | |
| 1 | g.169541820A>G | CA421930687 | F5 | c.3270T>C (p.Asp1090=) c.3285T>C (p.Asp1095=) c.2859T>C (p.Asp953=) | |
| 1 | g.169541820A>T | CA343118759 | F5 | c.3270T>A (p.Asp1090Glu) c.3285T>A (p.Asp1095Glu) c.2859T>A (p.Asp953Glu) | gnomAD v4 |
| 1 | g.169541821T>A | CA343118763 | F5 | c.3269A>T (p.Asp1090Val) c.3284A>T (p.Asp1095Val) c.2858A>T (p.Asp953Val) | |
| 1 | g.169541821T>C | CA343118764 | F5 | c.3269A>G (p.Asp1090Gly) c.3284A>G (p.Asp1095Gly) c.2858A>G (p.Asp953Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.169541821T>G | CA343118766 | F5 | c.3269A>C (p.Asp1090Ala) c.3284A>C (p.Asp1095Ala) c.2858A>C (p.Asp953Ala) | |
| 1 | g.169541821T= | CA1206132467 | F5 | c.3269A= (p.Asp1090=) c.3284A= (p.Asp1095=) c.2858A= (p.Asp953=) | |
| 1 | g.169541822C>A | CA343118768 | F5 | c.3268G>T (p.Asp1090Tyr) c.3283G>T (p.Asp1095Tyr) c.2857G>T (p.Asp953Tyr) | |
| 1 | g.169541822C>G | CA343118769 | F5 | c.3268G>C (p.Asp1090His) c.3283G>C (p.Asp1095His) c.2857G>C (p.Asp953His) | |
| 1 | g.169541822C>T | CA343118770 | F5 | c.3268G>A (p.Asp1090Asn) c.3283G>A (p.Asp1095Asn) c.2857G>A (p.Asp953Asn) | gnomAD v4 |
| 1 | g.169541823C>A | CA343118775 | F5 | c.3267G>T (p.Met1089Ile) c.3282G>T (p.Met1094Ile) c.2856G>T (p.Met952Ile) | |
| 1 | g.169541823C>G | CA343118772 | F5 | c.3267G>C (p.Met1089Ile) c.3282G>C (p.Met1094Ile) c.2856G>C (p.Met952Ile) | |
| 1 | g.169541823C>T | CA343118773 | F5 | c.3267G>A (p.Met1089Ile) c.3282G>A (p.Met1094Ile) c.2856G>A (p.Met952Ile) | gnomAD v4 |
| 1 | g.169541824A= | CA1206132468 | F5 | c.3266T= (p.Met1089=) c.3281T= (p.Met1094=) c.2855T= (p.Met952=) | |
| 1 | g.169541824A>C | CA343118777 | F5 | c.3266T>G (p.Met1089Arg) c.3281T>G (p.Met1094Arg) c.2855T>G (p.Met952Arg) | |
| 1 | g.169541824A>G | CA343118779 | F5 | c.3266T>C (p.Met1089Thr) c.3281T>C (p.Met1094Thr) c.2855T>C (p.Met952Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541824A>T | CA343118780 | F5 | c.3266T>A (p.Met1089Lys) c.3281T>A (p.Met1094Lys) c.2855T>A (p.Met952Lys) | |
| 1 | g.169541825_169541826del | CA2649035357 | F5 | c.3265_3266del (p.Met1089GlyfsTer10) c.3280_3281del (p.Met1094GlyfsTer10) c.2854_2855del (p.Met952GlyfsTer10) | gnomAD v4 |
| 1 | g.169541825T>A | CA343118782 | F5 | c.3265A>T (p.Met1089Leu) c.3280A>T (p.Met1094Leu) c.2854A>T (p.Met952Leu) | |
| 1 | g.169541825T>C | CA1233937 | F5 | c.3265A>G (p.Met1089Val) c.3280A>G (p.Met1094Val) c.2854A>G (p.Met952Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541825T>G | CA343118784 | F5 | c.3265A>C (p.Met1089Leu) c.3280A>C (p.Met1094Leu) c.2854A>C (p.Met952Leu) | |
| 1 | g.169541825T= | CA1206132469 | F5 | c.3265A= (p.Met1089=) c.3280A= (p.Met1094=) c.2854A= (p.Met952=) | |
| 1 | g.169541826A= | CA1206132471 | F5 | c.3264T= (p.Ser1088=) c.3279T= (p.Ser1093=) c.2853T= (p.Ser951=) | |
| 1 | g.169541826A>C | CA421930694 | F5 | c.3264T>G (p.Ser1088=) c.3279T>G (p.Ser1093=) c.2853T>G (p.Ser951=) | |
| 1 | g.169541826A>G | CA421930695 | F5 | c.3264T>C (p.Ser1088=) c.3279T>C (p.Ser1093=) c.2853T>C (p.Ser951=) | gnomAD v4 |
| 1 | g.169541826A>T | CA421930696 | F5 | c.3264T>A (p.Ser1088=) c.3279T>A (p.Ser1093=) c.2853T>A (p.Ser951=) | dbSNP gnomAD v2 |
| 1 | g.169541827G>A | CA343118786 | F5 | c.3263C>T (p.Ser1088Phe) c.3278C>T (p.Ser1093Phe) c.2852C>T (p.Ser951Phe) | |
| 1 | g.169541827G>C | CA1233938 | F5 | c.3263C>G (p.Ser1088Cys) c.3278C>G (p.Ser1093Cys) c.2852C>G (p.Ser951Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541827G= | CA1149138072 | F5 | c.3263C= (p.Ser1088=) c.3278C= (p.Ser1093=) c.2852C= (p.Ser951=) | |
| 1 | g.169541827G>T | CA343118788 | F5 | c.3263C>A (p.Ser1088Tyr) c.3278C>A (p.Ser1093Tyr) c.2852C>A (p.Ser951Tyr) | |
| 1 | g.169541828A>C | CA343118790 | F5 | c.3262T>G (p.Ser1088Ala) c.3277T>G (p.Ser1093Ala) c.2851T>G (p.Ser951Ala) | |
| 1 | g.169541828A>G | CA343118791 | F5 | c.3262T>C (p.Ser1088Pro) c.3277T>C (p.Ser1093Pro) c.2851T>C (p.Ser951Pro) | gnomAD v4 |
| 1 | g.169541828A>T | CA343118792 | F5 | c.3262T>A (p.Ser1088Thr) c.3277T>A (p.Ser1093Thr) c.2851T>A (p.Ser951Thr) | |
| 1 | g.169541829G>A | CA421930701 | F5 | c.3261C>T (p.Pro1087=) c.3276C>T (p.Pro1092=) c.2850C>T (p.Pro950=) |