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 |
|---|---|---|---|---|---|
| 15 | g.48463892_48463896del | CA2695220530 | FBN1 | c.5065+3_5065+7del (n.5065+3_5065+7del) n.3739+3_3739+7del c.64+3_64+7del (n.64+3_64+7del) c.*828+3_*828+7del (n.*828+3_*828+7del) c.372+3_372+7del | |
| 15 | g.48463894C>A | CA2175516095 | FBN1 | c.5065+5G>T (n.5065+5G>T) n.3739+5G>T c.64+5G>T (n.64+5G>T) c.*828+5G>T (n.*828+5G>T) c.372+5G>T | dbSNP gnomAD v4 |
| 15 | g.48463894C= | CA2175516097 | FBN1 | c.5065+5G= (n.5065+5G=) n.3739+5G= c.64+5G= (n.64+5G=) c.*828+5G= (n.*828+5G=) c.372+5G= | |
| 15 | g.48463894C>T | CA054212 | FBN1 | c.5065+5G>A (n.5065+5G>A) n.3739+5G>A c.64+5G>A (n.64+5G>A) c.*828+5G>A (n.*828+5G>A) c.372+5G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48463895T>A | CA617839873 | FBN1 | c.5065+4A>T (n.5065+4A>T) n.3739+4A>T c.64+4A>T (n.64+4A>T) c.*828+4A>T (n.*828+4A>T) c.372+4A>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48463895T>C | CA054198 | FBN1 | c.5065+4A>G (n.5065+4A>G) n.3739+4A>G c.64+4A>G (n.64+4A>G) c.*828+4A>G (n.*828+4A>G) c.372+4A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48463895T= | CA2175516098 | FBN1 | c.5065+4A= (n.5065+4A=) n.3739+4A= c.64+4A= (n.64+4A=) c.*828+4A= (n.*828+4A=) c.372+4A= | |
| 15 | g.48463896T>A | CA2628332804 | FBN1 | c.5065+3A>T (n.5065+3A>T) n.3739+3A>T c.64+3A>T (n.64+3A>T) c.*828+3A>T (n.*828+3A>T) c.372+3A>T | gnomAD v4 |
| 15 | g.48463896T= | CA2175516100 | FBN1 | c.5065+3A= (n.5065+3A=) n.3739+3A= c.64+3A= (n.64+3A=) c.*828+3A= (n.*828+3A=) c.372+3A= | |
| 15 | g.48463897A>C | CA392349471 | FBN1 | c.5065+2T>G (n.5065+2T>G) n.3739+2T>G c.64+2T>G (n.64+2T>G) c.*828+2T>G (n.*828+2T>G) c.372+2T>G | |
| 15 | g.48463897A>G | CA392349469 | FBN1 | c.5065+2T>C (n.5065+2T>C) n.3739+2T>C c.64+2T>C (n.64+2T>C) c.*828+2T>C (n.*828+2T>C) c.372+2T>C | |
| 15 | g.48463897A>T | CA392349468 | FBN1 | c.5065+2T>A (n.5065+2T>A) n.3739+2T>A c.64+2T>A (n.64+2T>A) c.*828+2T>A (n.*828+2T>A) c.372+2T>A | |
| 15 | g.48463897dup | CA658798355 | FBN1 | c.5065+2dup (n.5065+2dup) n.3739+2dup c.64+2dup (n.64+2dup) c.*828+2dup (n.*828+2dup) c.372+2dup | ClinVar dbSNP |
| 15 | g.48463898C>A | CA392349477 | FBN1 | c.5065+1G>T (n.5065+1G>T) n.3739+1G>T c.64+1G>T (n.64+1G>T) c.*828+1G>T (n.*828+1G>T) c.372+1G>T | ClinVar dbSNP |
| 15 | g.48463898C= | CA2175516105 | FBN1 | c.5065+1G= (n.5065+1G=) n.3739+1G= c.64+1G= (n.64+1G=) c.*828+1G= (n.*828+1G=) c.372+1G= | |
| 15 | g.48463898C>G | CA392349479 | FBN1 | c.5065+1G>C (n.5065+1G>C) n.3739+1G>C c.64+1G>C (n.64+1G>C) c.*828+1G>C (n.*828+1G>C) c.372+1G>C | ClinVar dbSNP |
| 15 | g.48463898C>T | CA392349480 | FBN1 | c.5065+1G>A (n.5065+1G>A) n.3739+1G>A c.64+1G>A (n.64+1G>A) c.*828+1G>A (n.*828+1G>A) c.372+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48463900dup | CA2695220531 | FBN1 | c.5065+1dup n.3739+1dup c.64+1dup c.*828+1dup c.372+1dup | |
| 15 | g.48463899C>A | CA392349484 | FBN1 | c.5065G>T (p.Asp1689Tyr) n.3739G>T c.64G>T (p.Asp22Tyr) c.*828G>T (n.*828G>T) c.372G>T | |
| 15 | g.48463899C>G | CA392349486 | FBN1 | c.5065G>C (p.Asp1689His) n.3739G>C c.64G>C (p.Asp22His) c.*828G>C (n.*828G>C) c.372G>C | |
| 15 | g.48463899C>T | CA392349488 | FBN1 | c.5065G>A (p.Asp1689Asn) n.3739G>A c.64G>A (p.Asp22Asn) c.*828G>A (n.*828G>A) c.372G>A | |
| 15 | g.48463900C>A | CA392349490 | FBN1 | c.5064G>T (p.Met1688Ile) n.3738G>T c.63G>T (p.Met21Ile) c.*827G>T (n.*827G>T) c.371G>T | ClinVar dbSNP |
| 15 | g.48463900C>G | CA392349496 | FBN1 | c.5064G>C (p.Met1688Ile) n.3738G>C c.63G>C (p.Met21Ile) c.*827G>C (n.*827G>C) c.371G>C | |
| 15 | g.48463900C>T | CA392349492 | FBN1 | c.5064G>A (p.Met1688Ile) n.3738G>A c.63G>A (p.Met21Ile) c.*827G>A (n.*827G>A) c.371G>A | |
| 15 | g.48463901del | CA2695220532 | FBN1 | c.5063del (p.Met1688ArgfsTer3) n.3737del c.62del (p.Met21ArgfsTer3) c.*826del (n.*826del) c.370del | |
| 15 | g.48463901A= | CA2175516112 | FBN1 | c.5063T= (p.Met1688=) n.3737T= c.62T= (p.Met21=) c.*826T= (n.*826T=) c.370T= | |
| 15 | g.48463901A>C | CA392349497 | FBN1 | c.5063T>G (p.Met1688Arg) n.3737T>G c.62T>G (p.Met21Arg) c.*826T>G (n.*826T>G) c.370T>G | |
| 15 | g.48463901A>G | CA054155 | FBN1 | c.5063T>C (p.Met1688Thr) n.3737T>C c.62T>C (p.Met21Thr) c.*826T>C (n.*826T>C) c.370T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48463901A>T | CA392349498 | FBN1 | c.5063T>A (p.Met1688Lys) n.3737T>A c.62T>A (p.Met21Lys) c.*826T>A (n.*826T>A) c.370T>A | |
| 15 | g.48463901_48463902delinsAT | CA2175516110 | FBN1 | c.5062_5063delinsAT (p.Met1688=) n.3736_3737delinsAT c.61_62delinsAT (p.Met21=) c.*825_*826delinsAT (n.*825_*826delinsAT) c.369_370delinsAT | |
| 15 | g.48463902del | CA658798356 | FBN1 | c.5062del (p.Met1688TrpfsTer3) n.3736del c.61del (p.Met21TrpfsTer3) c.*825del (n.*825del) c.369del | ClinVar dbSNP |
| 15 | g.48463902T>A | CA392349503 | FBN1 | c.5062A>T (p.Met1688Leu) n.3736A>T c.61A>T (p.Met21Leu) c.*825A>T (n.*825A>T) c.369A>T | |
| 15 | g.48463902T>C | CA392349506 | FBN1 | c.5062A>G (p.Met1688Val) n.3736A>G c.61A>G (p.Met21Val) c.*825A>G (n.*825A>G) c.369A>G | ClinVar dbSNP |
| 15 | g.48463902T>G | CA392349509 | FBN1 | c.5062A>C (p.Met1688Leu) n.3736A>C c.61A>C (p.Met21Leu) c.*825A>C (n.*825A>C) c.369A>C | |
| 15 | g.48463902T= | CA2175516116 | FBN1 | c.5062A= (p.Met1688=) n.3736A= c.61A= (p.Met21=) c.*825A= (n.*825A=) c.369A= | |
| 15 | g.48463903G>A | CA490025824 | FBN1 | c.5061C>T (p.Cys1687=) n.3735C>T c.60C>T (p.Cys20=) c.*824C>T (n.*824C>T) c.368C>T | |
| 15 | g.48463903G>C | CA392349510 | FBN1 | c.5061C>G (p.Cys1687Trp) n.3735C>G c.60C>G (p.Cys20Trp) c.*824C>G (n.*824C>G) c.368C>G | |
| 15 | g.48463903G= | CA2175516122 | FBN1 | c.5061C= (p.Cys1687=) n.3735C= c.60C= (p.Cys20=) c.*824C= (n.*824C=) c.368C= | |
| 15 | g.48463903G>T | CA392349511 | FBN1 | c.5061C>A (p.Cys1687Ter) n.3735C>A c.60C>A (p.Cys20Ter) c.*824C>A (n.*824C>A) c.368C>A | ClinVar dbSNP |
| 15 | g.48463904C>A | CA392349513 | FBN1 | c.5060G>T (p.Cys1687Phe) n.3734G>T c.59G>T (p.Cys20Phe) c.*823G>T (n.*823G>T) c.367G>T | ClinVar |
| 15 | g.48463904C>G | CA392349515 | FBN1 | c.5060G>C (p.Cys1687Ser) n.3734G>C c.59G>C (p.Cys20Ser) c.*823G>C (n.*823G>C) c.367G>C | |
| 15 | g.48463904C>T | CA392349518 | FBN1 | c.5060G>A (p.Cys1687Tyr) n.3734G>A c.59G>A (p.Cys20Tyr) c.*823G>A (n.*823G>A) c.367G>A | ClinVar |
| 15 | g.48463905A>C | CA392349523 | FBN1 | c.5059T>G (p.Cys1687Gly) n.3733T>G c.58T>G (p.Cys20Gly) c.*822T>G (n.*822T>G) c.366T>G | |
| 15 | g.48463905A>G | CA392349529 | FBN1 | c.5059T>C (p.Cys1687Arg) n.3733T>C c.58T>C (p.Cys20Arg) c.*822T>C (n.*822T>C) c.366T>C | ClinVar dbSNP |
| 15 | g.48463905A>T | CA392349526 | FBN1 | c.5059T>A (p.Cys1687Ser) n.3733T>A c.58T>A (p.Cys20Ser) c.*822T>A (n.*822T>A) c.366T>A | |
| 15 | g.48463906A= | CA2175516125 | FBN1 | c.5058T= (p.Asn1686=) n.3732T= c.57T= (p.Asn19=) c.*821T= (n.*821T=) c.365T= | |
| 15 | g.48463906A>C | CA392349541 | FBN1 | c.5058T>G (p.Asn1686Lys) n.3732T>G c.57T>G (p.Asn19Lys) c.*821T>G (n.*821T>G) c.365T>G | |
| 15 | g.48463906A>G | CA490025836 | FBN1 | c.5058T>C (p.Asn1686=) n.3732T>C c.57T>C (p.Asn19=) c.*821T>C (n.*821T>C) c.365T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48463906A>T | CA392349545 | FBN1 | c.5058T>A (p.Asn1686Lys) n.3732T>A c.57T>A (p.Asn19Lys) c.*821T>A (n.*821T>A) c.365T>A | |
| 15 | g.48463906_48463907delinsAT | CA2175516128 | FBN1 | c.5057_5058delinsAT (p.Asn1686=) n.3731_3732delinsAT c.56_57delinsAT (p.Asn19=) c.*820_*821delinsAT (n.*820_*821delinsAT) c.364_365delinsAT |