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.48483927_48483938del | CA2580089573 | FBN1 | c.3721_3732del (p.Glu1241_Asp1244del) n.2395_2406del c.637-9285_637-9274del (n.637-9285_637-9274del) | ClinVar |
| 15 | g.48483927T>A | CA392324156 | FBN1 | c.3729A>T (p.Glu1243Asp) n.2403A>T c.637-9277A>T (n.637-9277A>T) | |
| 15 | g.48483927T>C | CA490017208 | FBN1 | c.3729A>G (p.Glu1243=) n.2403A>G c.637-9277A>G (n.637-9277A>G) | |
| 15 | g.48483927T>G | CA392324158 | FBN1 | c.3729A>C (p.Glu1243Asp) n.2403A>C c.637-9277A>C (n.637-9277A>C) | |
| 15 | g.48483928T>A | CA392324160 | FBN1 | c.3728A>T (p.Glu1243Val) n.2402A>T c.637-9278A>T (n.637-9278A>T) | |
| 15 | g.48483928T>C | CA392324163 | FBN1 | c.3728A>G (p.Glu1243Gly) n.2402A>G c.637-9278A>G (n.637-9278A>G) | ClinVar dbSNP |
| 15 | g.48483928T>G | CA392324161 | FBN1 | c.3728A>C (p.Glu1243Ala) n.2402A>C c.637-9278A>C (n.637-9278A>C) | |
| 15 | g.48483928T= | CA2175509714 | FBN1 | c.3728A= (p.Glu1243=) n.2402A= c.637-9278A= (n.637-9278A=) | |
| 15 | g.48483928_48483944delinsG | CA2695197285 | FBN1 | c.3713-1_3728delinsC n.2387-1_2402delinsC c.637-9294_637-9278delinsC (n.637-9294_637-9278delinsC) | ClinVar |
| 15 | g.48483929C>A | CA392324165 | FBN1 | c.3727G>T (p.Glu1243Ter) n.2401G>T c.637-9279G>T (n.637-9279G>T) | |
| 15 | g.48483929C>G | CA392324167 | FBN1 | c.3727G>C (p.Glu1243Gln) n.2401G>C c.637-9279G>C (n.637-9279G>C) | |
| 15 | g.48483929C>T | CA392324169 | FBN1 | c.3727G>A (p.Glu1243Lys) n.2401G>A c.637-9279G>A (n.637-9279G>A) | |
| 15 | g.48483930A>C | CA392324173 | FBN1 | c.3726T>G (p.Cys1242Trp) n.2400T>G c.637-9280T>G (n.637-9280T>G) | ClinVar |
| 15 | g.48483930A>G | CA490017213 | FBN1 | c.3726T>C (p.Cys1242=) n.2400T>C c.637-9280T>C (n.637-9280T>C) | |
| 15 | g.48483930A>T | CA392324174 | FBN1 | c.3726T>A (p.Cys1242Ter) n.2400T>A c.637-9280T>A (n.637-9280T>A) | |
| 15 | g.48483931C>A | CA392324177 | FBN1 | c.3725G>T (p.Cys1242Phe) n.2399G>T c.637-9281G>T (n.637-9281G>T) | |
| 15 | g.48483931C= | CA2175509726 | FBN1 | c.3725G= (p.Cys1242=) n.2399G= c.637-9281G= (n.637-9281G=) | |
| 15 | g.48483931C>G | CA392324180 | FBN1 | c.3725G>C (p.Cys1242Ser) n.2399G>C c.637-9281G>C (n.637-9281G>C) | |
| 15 | g.48483931C>T | CA014498 | FBN1 | c.3725G>A (p.Cys1242Tyr) n.2399G>A c.637-9281G>A (n.637-9281G>A) | ClinVar dbSNP |
| 15 | g.48483932A>C | CA392324184 | FBN1 | c.3724T>G (p.Cys1242Gly) n.2398T>G c.637-9282T>G (n.637-9282T>G) | |
| 15 | g.48483932A>G | CA392324186 | FBN1 | c.3724T>C (p.Cys1242Arg) n.2398T>C c.637-9282T>C (n.637-9282T>C) | ClinVar dbSNP |
| 15 | g.48483932A>T | CA392324187 | FBN1 | c.3724T>A (p.Cys1242Ser) n.2398T>A c.637-9282T>A (n.637-9282T>A) | |
| 15 | g.48483933C>A | CA392324190 | FBN1 | c.3723G>T (p.Glu1241Asp) n.2397G>T c.637-9283G>T (n.637-9283G>T) | |
| 15 | g.48483933C>G | CA392324192 | FBN1 | c.3723G>C (p.Glu1241Asp) n.2397G>C c.637-9283G>C (n.637-9283G>C) | |
| 15 | g.48483933C>T | CA490017215 | FBN1 | c.3723G>A (p.Glu1241=) n.2397G>A c.637-9283G>A (n.637-9283G>A) | gnomAD v4 |
| 15 | g.48483934T>A | CA392324195 | FBN1 | c.3722A>T (p.Glu1241Val) n.2396A>T c.637-9284A>T (n.637-9284A>T) | |
| 15 | g.48483934T>C | CA392324199 | FBN1 | c.3722A>G (p.Glu1241Gly) n.2396A>G c.637-9284A>G (n.637-9284A>G) | ClinVar dbSNP |
| 15 | g.48483934T>G | CA392324197 | FBN1 | c.3722A>C (p.Glu1241Ala) n.2396A>C c.637-9284A>C (n.637-9284A>C) | |
| 15 | g.48483934T= | CA2175509733 | FBN1 | c.3722A= (p.Glu1241=) n.2396A= c.637-9284A= (n.637-9284A=) | |
| 15 | g.48483935C>A | CA392324202 | FBN1 | c.3721G>T (p.Glu1241Ter) n.2395G>T c.637-9285G>T (n.637-9285G>T) | |
| 15 | g.48483935C>G | CA392324204 | FBN1 | c.3721G>C (p.Glu1241Gln) n.2395G>C c.637-9285G>C (n.637-9285G>C) | |
| 15 | g.48483935C>T | CA392324205 | FBN1 | c.3721G>A (p.Glu1241Lys) n.2395G>A c.637-9285G>A (n.637-9285G>A) | ClinVar |
| 15 | g.48483936A= | CA2175509734 | FBN1 | c.3720T= (p.Asp1240=) n.2394T= c.637-9286T= (n.637-9286T=) | |
| 15 | g.48483936A>C | CA392324209 | FBN1 | c.3720T>G (p.Asp1240Glu) n.2394T>G c.637-9286T>G (n.637-9286T>G) | |
| 15 | g.48483936A>G | CA490017219 | FBN1 | c.3720T>C (p.Asp1240=) n.2394T>C c.637-9286T>C (n.637-9286T>C) | gnomAD v4 |
| 15 | g.48483936A>T | CA392324210 | FBN1 | c.3720T>A (p.Asp1240Glu) n.2394T>A c.637-9286T>A (n.637-9286T>A) | dbSNP |
| 15 | g.48483937T>A | CA392324214 | FBN1 | c.3719A>T (p.Asp1240Val) n.2393A>T c.637-9287A>T (n.637-9287A>T) | |
| 15 | g.48483937T>C | CA392324216 | FBN1 | c.3719A>G (p.Asp1240Gly) n.2393A>G c.637-9287A>G (n.637-9287A>G) | |
| 15 | g.48483937T>G | CA392324219 | FBN1 | c.3719A>C (p.Asp1240Ala) n.2393A>C c.637-9287A>C (n.637-9287A>C) | |
| 15 | g.48483938C>A | CA392324222 | FBN1 | c.3718G>T (p.Asp1240Tyr) n.2392G>T c.637-9288G>T (n.637-9288G>T) | |
| 15 | g.48483938C= | CA2175509739 | FBN1 | c.3718G= (p.Asp1240=) n.2392G= c.637-9288G= (n.637-9288G=) | |
| 15 | g.48483938C>G | CA392324224 | FBN1 | c.3718G>C (p.Asp1240His) n.2392G>C c.637-9288G>C (n.637-9288G>C) | gnomAD v4 |
| 15 | g.48483938C>T | CA014486 | FBN1 | c.3718G>A (p.Asp1240Asn) n.2392G>A c.637-9288G>A (n.637-9288G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48483939G>A | CA051479 | FBN1 | c.3717C>T (p.Ile1239=) n.2391C>T c.637-9289C>T (n.637-9289C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48483939G>C | CA392324228 | FBN1 | c.3717C>G (p.Ile1239Met) n.2391C>G c.637-9289C>G (n.637-9289C>G) | |
| 15 | g.48483939G= | CA2175509744 | FBN1 | c.3717C= (p.Ile1239=) n.2391C= c.637-9289C= (n.637-9289C=) | |
| 15 | g.48483939G>T | CA490017221 | FBN1 | c.3717C>A (p.Ile1239=) n.2391C>A c.637-9289C>A (n.637-9289C>A) | gnomAD v4 |
| 15 | g.48483940A>C | CA392324233 | FBN1 | c.3716T>G (p.Ile1239Ser) n.2390T>G c.637-9290T>G (n.637-9290T>G) | |
| 15 | g.48483940A>G | CA392324237 | FBN1 | c.3716T>C (p.Ile1239Thr) n.2390T>C c.637-9290T>C (n.637-9290T>C) | gnomAD v4 |
| 15 | g.48483940A>T | CA392324235 | FBN1 | c.3716T>A (p.Ile1239Asn) n.2390T>A c.637-9290T>A (n.637-9290T>A) |