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.48485420_48485485del | CA2695220670 | FBN1 | c.3603_3668del (p.Ser1202_Cys1223del) n.2277_2342del c.637-10833_637-10768del (n.637-10833_637-10768del) | |
| 15 | g.48485451C>A | CA392324544 | FBN1 | c.3635G>T (p.Cys1212Phe) n.2309G>T c.637-10801G>T (n.637-10801G>T) | |
| 15 | g.48485451C= | CA2175511932 | FBN1 | c.3635G= (p.Cys1212=) n.2309G= c.637-10801G= (n.637-10801G=) | |
| 15 | g.48485451C>G | CA16606967 | FBN1 | c.3635G>C (p.Cys1212Ser) n.2309G>C c.637-10801G>C (n.637-10801G>C) | ClinVar dbSNP |
| 15 | g.48485451C>T | CA392324546 | FBN1 | c.3635G>A (p.Cys1212Tyr) n.2309G>A c.637-10801G>A (n.637-10801G>A) | ClinVar dbSNP |
| 15 | g.48485451_48485454delinsCAGA | CA2175511934 | FBN1 | c.3632_3635delinsTCTG (p.Phe1211=) n.2306_2309delinsTCTG c.637-10804_637-10801delinsTCTG (n.637-10804_637-10801delinsTCTG) | |
| 15 | g.48485452A= | CA2175511943 | FBN1 | c.3634T= (p.Cys1212=) n.2308T= c.637-10802T= (n.637-10802T=) | |
| 15 | g.48485452A>C | CA392324549 | FBN1 | c.3634T>G (p.Cys1212Gly) n.2308T>G c.637-10802T>G (n.637-10802T>G) | |
| 15 | g.48485452A>G | CA392324550 | FBN1 | c.3634T>C (p.Cys1212Arg) n.2308T>C c.637-10802T>C (n.637-10802T>C) | ClinVar dbSNP |
| 15 | g.48485452A>T | CA392324552 | FBN1 | c.3634T>A (p.Cys1212Ser) n.2308T>A c.637-10802T>A (n.637-10802T>A) | |
| 15 | g.48485454_48485456del | CA658824437 | FBN1 | c.3632_3634del (p.Phe1211del) n.2306_2308del c.637-10804_637-10802del (n.637-10804_637-10802del) | ClinVar dbSNP |
| 15 | g.48485453G>A | CA490017613 | FBN1 | c.3633C>T (p.Phe1211=) n.2307C>T c.637-10803C>T (n.637-10803C>T) | gnomAD v4 |
| 15 | g.48485453G>C | CA392324554 | FBN1 | c.3633C>G (p.Phe1211Leu) n.2307C>G c.637-10803C>G (n.637-10803C>G) | |
| 15 | g.48485453G= | CA2175511948 | FBN1 | c.3633C= (p.Phe1211=) n.2307C= c.637-10803C= (n.637-10803C=) | |
| 15 | g.48485453G>T | CA392324556 | FBN1 | c.3633C>A (p.Phe1211Leu) n.2307C>A c.637-10803C>A (n.637-10803C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48485454A>C | CA392324558 | FBN1 | c.3632T>G (p.Phe1211Cys) n.2306T>G c.637-10804T>G (n.637-10804T>G) | |
| 15 | g.48485454A>G | CA392324562 | FBN1 | c.3632T>C (p.Phe1211Ser) n.2306T>C c.637-10804T>C (n.637-10804T>C) | ClinVar gnomAD v4 |
| 15 | g.48485454A>T | CA392324560 | FBN1 | c.3632T>A (p.Phe1211Tyr) n.2306T>A c.637-10804T>A (n.637-10804T>A) | |
| 15 | g.48485455A>C | CA392324564 | FBN1 | c.3631T>G (p.Phe1211Val) n.2305T>G c.637-10805T>G (n.637-10805T>G) | |
| 15 | g.48485455A>G | CA392324565 | FBN1 | c.3631T>C (p.Phe1211Leu) n.2305T>C c.637-10805T>C (n.637-10805T>C) | |
| 15 | g.48485455A>T | CA392324567 | FBN1 | c.3631T>A (p.Phe1211Ile) n.2305T>A c.637-10805T>A (n.637-10805T>A) | |
| 15 | g.48485456G>A | CA490017629 | FBN1 | c.3630C>T (p.Thr1210=) n.2304C>T c.637-10806C>T (n.637-10806C>T) | dbSNP |
| 15 | g.48485456G>C | CA490017626 | FBN1 | c.3630C>G (p.Thr1210=) n.2304C>G c.637-10806C>G (n.637-10806C>G) | |
| 15 | g.48485456G>T | CA490017625 | FBN1 | c.3630C>A (p.Thr1210=) n.2304C>A c.637-10806C>A (n.637-10806C>A) | |
| 15 | g.48485457del | CA2695220672 | FBN1 | c.3630del (p.Phe1211SerfsTer19) n.2304del c.637-10806del (n.637-10806del) | |
| 15 | g.48485457G>A | CA392324569 | FBN1 | c.3629C>T (p.Thr1210Ile) n.2303C>T c.637-10807C>T (n.637-10807C>T) | gnomAD v4 |
| 15 | g.48485457G>C | CA392324571 | FBN1 | c.3629C>G (p.Thr1210Ser) n.2303C>G c.637-10807C>G (n.637-10807C>G) | |
| 15 | g.48485457G>T | CA392324573 | FBN1 | c.3629C>A (p.Thr1210Asn) n.2303C>A c.637-10807C>A (n.637-10807C>A) | |
| 15 | g.48485458T>A | CA392324574 | FBN1 | c.3628A>T (p.Thr1210Ser) n.2302A>T c.637-10808A>T (n.637-10808A>T) | |
| 15 | g.48485458T>C | CA392324576 | FBN1 | c.3628A>G (p.Thr1210Ala) n.2302A>G c.637-10808A>G (n.637-10808A>G) | dbSNP |
| 15 | g.48485458T>G | CA392324578 | FBN1 | c.3628A>C (p.Thr1210Pro) n.2302A>C c.637-10808A>C (n.637-10808A>C) | gnomAD v4 |
| 15 | g.48485458T= | CA2175511952 | FBN1 | c.3628A= (p.Thr1210=) n.2302A= c.637-10808A= (n.637-10808A=) | |
| 15 | g.48485459T>A | CA392324579 | FBN1 | c.3627A>T (p.Glu1209Asp) n.2301A>T c.637-10809A>T (n.637-10809A>T) | |
| 15 | g.48485459T>C | CA490017636 | FBN1 | c.3627A>G (p.Glu1209=) n.2301A>G c.637-10809A>G (n.637-10809A>G) | |
| 15 | g.48485459T>G | CA392324581 | FBN1 | c.3627A>C (p.Glu1209Asp) n.2301A>C c.637-10809A>C (n.637-10809A>C) | |
| 15 | g.48485459_48485461dup | CA2740096709 | FBN1 | c.3625_3627dup (p.Glu1209_Thr1210insGlu) n.2299_2301dup c.637-10811_637-10809dup (n.637-10811_637-10809dup) | ClinVar |
| 15 | g.48485460T>A | CA392324587 | FBN1 | c.3626A>T (p.Glu1209Val) n.2300A>T c.637-10810A>T (n.637-10810A>T) | ClinVar dbSNP |
| 15 | g.48485460T>C | CA392324585 | FBN1 | c.3626A>G (p.Glu1209Gly) n.2300A>G c.637-10810A>G (n.637-10810A>G) | |
| 15 | g.48485460T>G | CA392324584 | FBN1 | c.3626A>C (p.Glu1209Ala) n.2300A>C c.637-10810A>C (n.637-10810A>C) | |
| 15 | g.48485460T= | CA2175511957 | FBN1 | c.3626A= (p.Glu1209=) n.2300A= c.637-10810A= (n.637-10810A=) | |
| 15 | g.48485461C>A | CA392324590 | FBN1 | c.3625G>T (p.Glu1209Ter) n.2299G>T c.637-10811G>T (n.637-10811G>T) | |
| 15 | g.48485461C>G | CA392324591 | FBN1 | c.3625G>C (p.Glu1209Gln) n.2299G>C c.637-10811G>C (n.637-10811G>C) | |
| 15 | g.48485461C>T | CA392324593 | FBN1 | c.3625G>A (p.Glu1209Lys) n.2299G>A c.637-10811G>A (n.637-10811G>A) | |
| 15 | g.48485462A= | CA2175511963 | FBN1 | c.3624T= (p.Cys1208=) n.2298T= c.637-10812T= (n.637-10812T=) | |
| 15 | g.48485462A>C | CA392324596 | FBN1 | c.3624T>G (p.Cys1208Trp) n.2298T>G c.637-10812T>G (n.637-10812T>G) | ClinVar |
| 15 | g.48485462A>G | CA269527202 | FBN1 | c.3624T>C (p.Cys1208=) n.2298T>C c.637-10812T>C (n.637-10812T>C) | dbSNP |
| 15 | g.48485462A>T | CA392324599 | FBN1 | c.3624T>A (p.Cys1208Ter) n.2298T>A c.637-10812T>A (n.637-10812T>A) | ClinVar dbSNP |
| 15 | g.48485462_48485463delinsAC | CA2175511966 | FBN1 | c.3623_3624delinsGT (p.Cys1208=) n.2297_2298delinsGT c.637-10813_637-10812delinsGT (n.637-10813_637-10812delinsGT) | |
| 15 | g.48485463del | CA658824438 | FBN1 | c.3623del (p.Cys1208LeufsTer22) n.2297del c.637-10813del (n.637-10813del) | ClinVar dbSNP |
| 15 | g.48485463C>A | CA392324601 | FBN1 | c.3623G>T (p.Cys1208Phe) n.2297G>T c.637-10813G>T (n.637-10813G>T) | ClinVar dbSNP |