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.169541909C>A | CA343119099 | F5 | c.3181G>T (p.Glu1061Ter) c.3196G>T (p.Glu1066Ter) c.2770G>T (p.Glu924Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541909C= | CA1206132520 | F5 | c.3181G= (p.Glu1061=) c.3196G= (p.Glu1066=) c.2770G= (p.Glu924=) | |
| 1 | g.169541909C>G | CA343119101 | F5 | c.3181G>C (p.Glu1061Gln) c.3196G>C (p.Glu1066Gln) c.2770G>C (p.Glu924Gln) | COSMIC |
| 1 | g.169541909C>T | CA343119102 | F5 | c.3181G>A (p.Glu1061Lys) c.3196G>A (p.Glu1066Lys) c.2770G>A (p.Glu924Lys) | |
| 1 | g.169541910T>A | CA421930629 | F5 | c.3180A>T (p.Ser1060=) c.3195A>T (p.Ser1065=) c.2769A>T (p.Ser923=) | |
| 1 | g.169541910T>C | CA421930630 | F5 | c.3180A>G (p.Ser1060=) c.3195A>G (p.Ser1065=) c.2769A>G (p.Ser923=) | dbSNP gnomAD v4 |
| 1 | g.169541910T>G | CA421930631 | F5 | c.3180A>C (p.Ser1060=) c.3195A>C (p.Ser1065=) c.2769A>C (p.Ser923=) | |
| 1 | g.169541910T= | CA1206132521 | F5 | c.3180A= (p.Ser1060=) c.3195A= (p.Ser1065=) c.2769A= (p.Ser923=) | |
| 1 | g.169541911G>A | CA343119103 | F5 | c.3179C>T (p.Ser1060Leu) c.3194C>T (p.Ser1065Leu) c.2768C>T (p.Ser923Leu) | |
| 1 | g.169541911G>C | CA343119105 | F5 | c.3179C>G (p.Ser1060Ter) c.3194C>G (p.Ser1065Ter) c.2768C>G (p.Ser923Ter) | |
| 1 | g.169541911G>T | CA343119107 | F5 | c.3179C>A (p.Ser1060Ter) c.3194C>A (p.Ser1065Ter) c.2768C>A (p.Ser923Ter) | |
| 1 | g.169541912A= | CA1206132523 | F5 | c.3178T= (p.Ser1060=) c.3193T= (p.Ser1065=) c.2767T= (p.Ser923=) | |
| 1 | g.169541912A>C | CA343119110 | F5 | c.3178T>G (p.Ser1060Ala) c.3193T>G (p.Ser1065Ala) c.2767T>G (p.Ser923Ala) | |
| 1 | g.169541912A>G | CA1233957 | F5 | c.3178T>C (p.Ser1060Pro) c.3193T>C (p.Ser1065Pro) c.2767T>C (p.Ser923Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541912A>T | CA343119109 | F5 | c.3178T>A (p.Ser1060Thr) c.3193T>A (p.Ser1065Thr) c.2767T>A (p.Ser923Thr) | |
| 1 | g.169541912_169541913insCCATAATCAGAATTCCTC | CA2517932995 | F5 | c.3177_3178insGAGGAATTCTGATTATGG c.3192_3193insGAGGAATTCTGATTATGG c.2766_2767insGAGGAATTCTGATTATGG | |
| 1 | g.169541913A>C | CA343119111 | F5 | c.3177T>G (p.Phe1059Leu) c.3192T>G (p.Phe1064Leu) c.2766T>G (p.Phe922Leu) | |
| 1 | g.169541913A>G | CA421930635 | F5 | c.3177T>C (p.Phe1059=) c.3192T>C (p.Phe1064=) c.2766T>C (p.Phe922=) | |
| 1 | g.169541913A>T | CA343119112 | F5 | c.3177T>A (p.Phe1059Leu) c.3192T>A (p.Phe1064Leu) c.2766T>A (p.Phe922Leu) | |
| 1 | g.169541914A>C | CA343119113 | F5 | c.3176T>G (p.Phe1059Cys) c.3191T>G (p.Phe1064Cys) c.2765T>G (p.Phe922Cys) | |
| 1 | g.169541914A>G | CA343119114 | F5 | c.3176T>C (p.Phe1059Ser) c.3191T>C (p.Phe1064Ser) c.2765T>C (p.Phe922Ser) | |
| 1 | g.169541914A>T | CA343119115 | F5 | c.3176T>A (p.Phe1059Tyr) c.3191T>A (p.Phe1064Tyr) c.2765T>A (p.Phe922Tyr) | |
| 1 | g.169541915A>C | CA343119116 | F5 | c.3175T>G (p.Phe1059Val) c.3190T>G (p.Phe1064Val) c.2764T>G (p.Phe922Val) | |
| 1 | g.169541915A>G | CA343119118 | F5 | c.3175T>C (p.Phe1059Leu) c.3190T>C (p.Phe1064Leu) c.2764T>C (p.Phe922Leu) | |
| 1 | g.169541915A>T | CA343119117 | F5 | c.3175T>A (p.Phe1059Ile) c.3190T>A (p.Phe1064Ile) c.2764T>A (p.Phe922Ile) | |
| 1 | g.169541915_169541920delinsATGTGT | CA1206132524 | F5 | c.3170_3175delinsACACAT (p.Asn1057=) c.3185_3190delinsACACAT (p.Asn1062=) c.2759_2764delinsACACAT (p.Asn920=) | |
| 1 | g.169541916T>A | CA421930638 | F5 | c.3174A>T (p.Thr1058=) c.3189A>T (p.Thr1063=) c.2763A>T (p.Thr921=) | dbSNP |
| 1 | g.169541916T>C | CA1233958 | F5 | c.3174A>G (p.Thr1058=) c.3189A>G (p.Thr1063=) c.2763A>G (p.Thr921=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541916T>G | CA421930639 | F5 | c.3174A>C (p.Thr1058=) c.3189A>C (p.Thr1063=) c.2763A>C (p.Thr921=) | |
| 1 | g.169541916T= | CA1148296537 | F5 | c.3174A= (p.Thr1058=) c.3189A= (p.Thr1063=) c.2763A= (p.Thr921=) | |
| 1 | g.169541919_169541923del | CA915943655 | F5 | c.3170_3174del (p.Asn1057IlefsTer7) c.3185_3189del (p.Asn1062IlefsTer7) c.2759_2763del (p.Asn920IlefsTer7) | ClinVar dbSNP |
| 1 | g.169541917G>A | CA1233959 | F5 | c.3173C>T (p.Thr1058Ile) c.3188C>T (p.Thr1063Ile) c.2762C>T (p.Thr921Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541917G>C | CA343119119 | F5 | c.3173C>G (p.Thr1058Arg) c.3188C>G (p.Thr1063Arg) c.2762C>G (p.Thr921Arg) | |
| 1 | g.169541917G= | CA1206132528 | F5 | c.3173C= (p.Thr1058=) c.3188C= (p.Thr1063=) c.2762C= (p.Thr921=) | |
| 1 | g.169541917G>T | CA343119120 | F5 | c.3173C>A (p.Thr1058Lys) c.3188C>A (p.Thr1063Lys) c.2762C>A (p.Thr921Lys) | dbSNP gnomAD v4 |
| 1 | g.169541918T>A | CA343119121 | F5 | c.3172A>T (p.Thr1058Ser) c.3187A>T (p.Thr1063Ser) c.2761A>T (p.Thr921Ser) | gnomAD v4 |
| 1 | g.169541918T>C | CA343119122 | F5 | c.3172A>G (p.Thr1058Ala) c.3187A>G (p.Thr1063Ala) c.2761A>G (p.Thr921Ala) | |
| 1 | g.169541918T>G | CA343119123 | F5 | c.3172A>C (p.Thr1058Pro) c.3187A>C (p.Thr1063Pro) c.2761A>C (p.Thr921Pro) | |
| 1 | g.169541919G>A | CA421930641 | F5 | c.3171C>T (p.Asn1057=) c.3186C>T (p.Asn1062=) c.2760C>T (p.Asn920=) | |
| 1 | g.169541919G>C | CA343119124 | F5 | c.3171C>G (p.Asn1057Lys) c.3186C>G (p.Asn1062Lys) c.2760C>G (p.Asn920Lys) | |
| 1 | g.169541919G>T | CA343119125 | F5 | c.3171C>A (p.Asn1057Lys) c.3186C>A (p.Asn1062Lys) c.2760C>A (p.Asn920Lys) | COSMIC |
| 1 | g.169541920T>A | CA343119126 | F5 | c.3170A>T (p.Asn1057Ile) c.3185A>T (p.Asn1062Ile) c.2759A>T (p.Asn920Ile) | |
| 1 | g.169541920T>C | CA343119127 | F5 | c.3170A>G (p.Asn1057Ser) c.3185A>G (p.Asn1062Ser) c.2759A>G (p.Asn920Ser) | |
| 1 | g.169541920T>G | CA343119128 | F5 | c.3170A>C (p.Asn1057Thr) c.3185A>C (p.Asn1062Thr) c.2759A>C (p.Asn920Thr) | |
| 1 | g.169541921T>A | CA343119130 | F5 | c.3169A>T (p.Asn1057Tyr) c.3184A>T (p.Asn1062Tyr) c.2758A>T (p.Asn920Tyr) | |
| 1 | g.169541921T>C | CA343119131 | F5 | c.3169A>G (p.Asn1057Asp) c.3184A>G (p.Asn1062Asp) c.2758A>G (p.Asn920Asp) | |
| 1 | g.169541921T>G | CA343119129 | F5 | c.3169A>C (p.Asn1057His) c.3184A>C (p.Asn1062His) c.2758A>C (p.Asn920His) | |
| 1 | g.169541922G>A | CA421930644 | F5 | c.3168C>T (p.Tyr1056=) c.3183C>T (p.Tyr1061=) c.2757C>T (p.Tyr919=) | ClinVar |
| 1 | g.169541922G>C | CA343119133 | F5 | c.3168C>G (p.Tyr1056Ter) c.3183C>G (p.Tyr1061Ter) c.2757C>G (p.Tyr919Ter) | |
| 1 | g.169541922G= | CA1206132529 | F5 | c.3168C= (p.Tyr1056=) c.3183C= (p.Tyr1061=) c.2757C= (p.Tyr919=) |