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 |
|---|---|---|---|---|---|
| 7 | g.55146655C>A | CA367576563 | EGFR | c.315C>A (p.Asn105Lys) n.664C>A c.474C>A (p.Asn158Lys) c.424+3167C>A (n.424+3167C>A) c.89-9175C>A (n.89-9175C>A) | dbSNP |
| 7 | g.55146655C= | CA1708903385 | EGFR | c.315C= (p.Asn105=) n.664C= c.474C= (p.Asn158=) c.424+3167C= (n.424+3167C=) c.89-9175C= (n.89-9175C=) | |
| 7 | g.55146655C>G | CA367576564 | EGFR | c.315C>G (p.Asn105Lys) n.664C>G c.474C>G (p.Asn158Lys) c.424+3167C>G (n.424+3167C>G) c.89-9175C>G (n.89-9175C>G) | ClinVar dbSNP |
| 7 | g.55146655C>T | CA4265230 | EGFR | c.315C>T (p.Asn105=) n.664C>T c.474C>T (p.Asn158=) c.424+3167C>T (n.424+3167C>T) c.89-9175C>T (n.89-9175C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.55146656G>A | CA367576565 | EGFR | c.316G>A (p.Val106Met) n.665G>A c.475G>A (p.Val159Met) c.424+3168G>A (n.424+3168G>A) c.89-9174G>A (n.89-9174G>A) | ClinVar dbSNP |
| 7 | g.55146656G>C | CA367576566 | EGFR | c.316G>C (p.Val106Leu) n.665G>C c.475G>C (p.Val159Leu) c.424+3168G>C (n.424+3168G>C) c.89-9174G>C (n.89-9174G>C) | ClinVar dbSNP |
| 7 | g.55146656G>T | CA367576567 | EGFR | c.316G>T (p.Val106Leu) n.665G>T c.475G>T (p.Val159Leu) c.424+3168G>T (n.424+3168G>T) c.89-9174G>T (n.89-9174G>T) | |
| 7 | g.55146657T>A | CA367576568 | EGFR | c.317T>A (p.Val106Glu) n.666T>A c.476T>A (p.Val159Glu) c.424+3169T>A (n.424+3169T>A) c.89-9173T>A (n.89-9173T>A) | |
| 7 | g.55146657T>C | CA367576569 | EGFR | c.317T>C (p.Val106Ala) n.666T>C c.476T>C (p.Val159Ala) c.424+3169T>C (n.424+3169T>C) c.89-9173T>C (n.89-9173T>C) | dbSNP gnomAD v4 |
| 7 | g.55146657T>G | CA367576570 | EGFR | c.317T>G (p.Val106Gly) n.666T>G c.476T>G (p.Val159Gly) c.424+3169T>G (n.424+3169T>G) c.89-9173T>G (n.89-9173T>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.55146657T= | CA1708903389 | EGFR | c.317T= (p.Val106=) n.666T= c.476T= (p.Val159=) c.424+3169T= (n.424+3169T=) c.89-9173T= (n.89-9173T=) | |
| 7 | g.55146658G>A | CA454962898 | EGFR | c.318G>A (p.Val106=) n.667G>A c.477G>A (p.Val159=) c.424+3170G>A (n.424+3170G>A) c.89-9172G>A (n.89-9172G>A) | |
| 7 | g.55146658G>C | CA454962900 | EGFR | c.318G>C (p.Val106=) n.667G>C c.477G>C (p.Val159=) c.424+3170G>C (n.424+3170G>C) c.89-9172G>C (n.89-9172G>C) | |
| 7 | g.55146658G>T | CA454962902 | EGFR | c.318G>T (p.Val106=) n.667G>T c.477G>T (p.Val159=) c.424+3170G>T (n.424+3170G>T) c.89-9172G>T (n.89-9172G>T) | |
| 7 | g.55146659G>A | CA367576571 | EGFR | c.319G>A (p.Glu107Lys) n.668G>A c.478G>A (p.Glu160Lys) c.424+3171G>A (n.424+3171G>A) c.89-9171G>A (n.89-9171G>A) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 7 | g.55146659G>C | CA367576572 | EGFR | c.319G>C (p.Glu107Gln) n.668G>C c.478G>C (p.Glu160Gln) c.424+3171G>C (n.424+3171G>C) c.89-9171G>C (n.89-9171G>C) | dbSNP |
| 7 | g.55146659G>T | CA367576573 | EGFR | c.319G>T (p.Glu107Ter) n.668G>T c.478G>T (p.Glu160Ter) c.424+3171G>T (n.424+3171G>T) c.89-9171G>T (n.89-9171G>T) | dbSNP |
| 7 | g.55146660A>C | CA367576575 | EGFR | c.320A>C (p.Glu107Ala) n.669A>C c.479A>C (p.Glu160Ala) c.424+3172A>C (n.424+3172A>C) c.89-9170A>C (n.89-9170A>C) | |
| 7 | g.55146660A>G | CA367576576 | EGFR | c.320A>G (p.Glu107Gly) n.669A>G c.479A>G (p.Glu160Gly) c.424+3172A>G (n.424+3172A>G) c.89-9170A>G (n.89-9170A>G) | gnomAD v4 |
| 7 | g.55146660A>T | CA367576574 | EGFR | c.320A>T (p.Glu107Val) n.669A>T c.479A>T (p.Glu160Val) c.424+3172A>T (n.424+3172A>T) c.89-9170A>T (n.89-9170A>T) | |
| 7 | g.55146661G>A | CA454962910 | EGFR | c.321G>A (p.Glu107=) n.670G>A c.480G>A (p.Glu160=) c.424+3173G>A (n.424+3173G>A) c.89-9169G>A (n.89-9169G>A) | dbSNP COSMIC COSMIC |
| 7 | g.55146661G>C | CA367576577 | EGFR | c.321G>C (p.Glu107Asp) n.670G>C c.480G>C (p.Glu160Asp) c.424+3173G>C (n.424+3173G>C) c.89-9169G>C (n.89-9169G>C) | |
| 7 | g.55146661G>T | CA367576578 | EGFR | c.321G>T (p.Glu107Asp) n.670G>T c.480G>T (p.Glu160Asp) c.424+3173G>T (n.424+3173G>T) c.89-9169G>T (n.89-9169G>T) | gnomAD v4 |
| 7 | g.55146662A= | CA1708903391 | EGFR | c.322A= (p.Ser108=) n.671A= c.481A= (p.Ser161=) c.424+3174A= (n.424+3174A=) c.89-9168A= (n.89-9168A=) | |
| 7 | g.55146662A>C | CA367576579 | EGFR | c.322A>C (p.Ser108Arg) n.671A>C c.481A>C (p.Ser161Arg) c.424+3174A>C (n.424+3174A>C) c.89-9168A>C (n.89-9168A>C) | |
| 7 | g.55146662A>G | CA367576580 | EGFR | c.322A>G (p.Ser108Gly) n.671A>G c.481A>G (p.Ser161Gly) c.424+3174A>G (n.424+3174A>G) c.89-9168A>G (n.89-9168A>G) | dbSNP |
| 7 | g.55146662A>T | CA367576581 | EGFR | c.322A>T (p.Ser108Cys) n.671A>T c.481A>T (p.Ser161Cys) c.424+3174A>T (n.424+3174A>T) c.89-9168A>T (n.89-9168A>T) | dbSNP |
| 7 | g.55146663G>A | CA367576582 | EGFR | c.323G>A (p.Ser108Asn) n.672G>A c.482G>A (p.Ser161Asn) c.424+3175G>A (n.424+3175G>A) c.89-9167G>A (n.89-9167G>A) | dbSNP gnomAD v4 |
| 7 | g.55146663G>C | CA367576583 | EGFR | c.323G>C (p.Ser108Thr) n.672G>C c.482G>C (p.Ser161Thr) c.424+3175G>C (n.424+3175G>C) c.89-9167G>C (n.89-9167G>C) | dbSNP |
| 7 | g.55146663G= | CA1708903394 | EGFR | c.323G= (p.Ser108=) n.672G= c.482G= (p.Ser161=) c.424+3175G= (n.424+3175G=) c.89-9167G= (n.89-9167G=) | |
| 7 | g.55146663G>T | CA367576584 | EGFR | c.323G>T (p.Ser108Ile) n.672G>T c.482G>T (p.Ser161Ile) c.424+3175G>T (n.424+3175G>T) c.89-9167G>T (n.89-9167G>T) | dbSNP |
| 7 | g.55146664C>A | CA367576585 | EGFR | c.324C>A (p.Ser108Arg) n.673C>A c.483C>A (p.Ser161Arg) c.424+3176C>A (n.424+3176C>A) c.89-9166C>A (n.89-9166C>A) | dbSNP |
| 7 | g.55146664C= | CA1708903396 | EGFR | c.324C= (p.Ser108=) n.673C= c.483C= (p.Ser161=) c.424+3176C= (n.424+3176C=) c.89-9166C= (n.89-9166C=) | |
| 7 | g.55146664C>G | CA367576586 | EGFR | c.324C>G (p.Ser108Arg) n.673C>G c.483C>G (p.Ser161Arg) c.424+3176C>G (n.424+3176C>G) c.89-9166C>G (n.89-9166C>G) | dbSNP gnomAD v4 |
| 7 | g.55146664C>T | CA454962922 | EGFR | c.324C>T (p.Ser108=) n.673C>T c.483C>T (p.Ser161=) c.424+3176C>T (n.424+3176C>T) c.89-9166C>T (n.89-9166C>T) | dbSNP |
| 7 | g.55146665A>C | CA367576587 | EGFR | c.325A>C (p.Ile109Leu) n.674A>C c.484A>C (p.Ile162Leu) c.424+3177A>C (n.424+3177A>C) c.89-9165A>C (n.89-9165A>C) | ClinVar |
| 7 | g.55146665A>G | CA367576588 | EGFR | c.325A>G (p.Ile109Val) n.674A>G c.484A>G (p.Ile162Val) c.424+3177A>G (n.424+3177A>G) c.89-9165A>G (n.89-9165A>G) | |
| 7 | g.55146665A>T | CA367576589 | EGFR | c.325A>T (p.Ile109Phe) n.674A>T c.484A>T (p.Ile162Phe) c.424+3177A>T (n.424+3177A>T) c.89-9165A>T (n.89-9165A>T) | dbSNP |
| 7 | g.55146666T>A | CA367576592 | EGFR | c.326T>A (p.Ile109Asn) n.675T>A c.485T>A (p.Ile162Asn) c.424+3178T>A (n.424+3178T>A) c.89-9164T>A (n.89-9164T>A) | |
| 7 | g.55146666T>C | CA367576591 | EGFR | c.326T>C (p.Ile109Thr) n.675T>C c.485T>C (p.Ile162Thr) c.424+3178T>C (n.424+3178T>C) c.89-9164T>C (n.89-9164T>C) | |
| 7 | g.55146666T>G | CA367576590 | EGFR | c.326T>G (p.Ile109Ser) n.675T>G c.485T>G (p.Ile162Ser) c.424+3178T>G (n.424+3178T>G) c.89-9164T>G (n.89-9164T>G) | |
| 7 | g.55146667C>A | CA454962930 | EGFR | c.327C>A (p.Ile109=) n.676C>A c.486C>A (p.Ile162=) c.424+3179C>A (n.424+3179C>A) c.89-9163C>A (n.89-9163C>A) | dbSNP |
| 7 | g.55146667C>G | CA367576593 | EGFR | c.327C>G (p.Ile109Met) n.676C>G c.486C>G (p.Ile162Met) c.424+3179C>G (n.424+3179C>G) c.89-9163C>G (n.89-9163C>G) | dbSNP |
| 7 | g.55146667C>T | CA454962933 | EGFR | c.327C>T (p.Ile109=) n.676C>T c.486C>T (p.Ile162=) c.424+3179C>T (n.424+3179C>T) c.89-9163C>T (n.89-9163C>T) | dbSNP |
| 7 | g.55146668C>A | CA367576594 | EGFR | c.328C>A (p.Gln110Lys) n.677C>A c.487C>A (p.Gln163Lys) c.424+3180C>A (n.424+3180C>A) c.89-9162C>A (n.89-9162C>A) | dbSNP |
| 7 | g.55146668C>G | CA367576595 | EGFR | c.328C>G (p.Gln110Glu) n.677C>G c.487C>G (p.Gln163Glu) c.424+3180C>G (n.424+3180C>G) c.89-9162C>G (n.89-9162C>G) | dbSNP |
| 7 | g.55146668C>T | CA367576596 | EGFR | c.328C>T (p.Gln110Ter) n.677C>T c.487C>T (p.Gln163Ter) c.424+3180C>T (n.424+3180C>T) c.89-9162C>T (n.89-9162C>T) | dbSNP |
| 7 | g.55146673_55146692del | CA2580077251 | EGFR | c.333_352del (p.Trp111Ter) n.682_701del c.492_511del (p.Trp164Ter) c.424+3185_424+3204del (n.424+3185_424+3204del) c.89-9157_89-9138del (n.89-9157_89-9138del) | ClinVar |
| 7 | g.55146669A>C | CA367576597 | EGFR | c.329A>C (p.Gln110Pro) n.678A>C c.488A>C (p.Gln163Pro) c.424+3181A>C (n.424+3181A>C) c.89-9161A>C (n.89-9161A>C) | |
| 7 | g.55146669A>G | CA367576598 | EGFR | c.329A>G (p.Gln110Arg) n.678A>G c.488A>G (p.Gln163Arg) c.424+3181A>G (n.424+3181A>G) c.89-9161A>G (n.89-9161A>G) |