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.48446712A= | CA2175494867 | FBN1 | c.5782T= (p.Cys1928=) n.4456T= c.781T= (p.Cys261=) c.*1545T= (n.*1545T=) c.1089T= | |
| 15 | g.48446712A>C | CA392341017 | FBN1 | c.5782T>G (p.Cys1928Gly) n.4456T>G c.781T>G (p.Cys261Gly) c.*1545T>G (n.*1545T>G) c.1089T>G | |
| 15 | g.48446712A>G | CA16602236 | FBN1 | c.5782T>C (p.Cys1928Arg) n.4456T>C c.781T>C (p.Cys261Arg) c.*1545T>C (n.*1545T>C) c.1089T>C | ClinVar dbSNP |
| 15 | g.48446712A>T | CA392341019 | FBN1 | c.5782T>A (p.Cys1928Ser) n.4456T>A c.781T>A (p.Cys261Ser) c.*1545T>A (n.*1545T>A) c.1089T>A | |
| 15 | g.48446713G>A | CA490022961 | FBN1 | c.5781C>T (p.Asp1927=) n.4455C>T c.780C>T (p.Asp260=) c.*1544C>T (n.*1544C>T) c.1088C>T | |
| 15 | g.48446713G>C | CA392341021 | FBN1 | c.5781C>G (p.Asp1927Glu) n.4455C>G c.780C>G (p.Asp260Glu) c.*1544C>G (n.*1544C>G) c.1088C>G | |
| 15 | g.48446713G>T | CA392341022 | FBN1 | c.5781C>A (p.Asp1927Glu) n.4455C>A c.780C>A (p.Asp260Glu) c.*1544C>A (n.*1544C>A) c.1088C>A | gnomAD v4 |
| 15 | g.48446714T>A | CA392341025 | FBN1 | c.5780A>T (p.Asp1927Val) n.4454A>T c.779A>T (p.Asp260Val) c.*1543A>T (n.*1543A>T) c.1087A>T | |
| 15 | g.48446714T>C | CA392341027 | FBN1 | c.5780A>G (p.Asp1927Gly) n.4454A>G c.779A>G (p.Asp260Gly) c.*1543A>G (n.*1543A>G) c.1087A>G | |
| 15 | g.48446714T>G | CA392341029 | FBN1 | c.5780A>C (p.Asp1927Ala) n.4454A>C c.779A>C (p.Asp260Ala) c.*1543A>C (n.*1543A>C) c.1087A>C | |
| 15 | g.48446715C>A | CA392341031 | FBN1 | c.5779G>T (p.Asp1927Tyr) n.4453G>T c.778G>T (p.Asp260Tyr) c.*1542G>T (n.*1542G>T) c.1086G>T | gnomAD v4 |
| 15 | g.48446715C>G | CA392341033 | FBN1 | c.5779G>C (p.Asp1927His) n.4453G>C c.778G>C (p.Asp260His) c.*1542G>C (n.*1542G>C) c.1086G>C | |
| 15 | g.48446715C>T | CA392341035 | FBN1 | c.5779G>A (p.Asp1927Asn) n.4453G>A c.778G>A (p.Asp260Asn) c.*1542G>A (n.*1542G>A) c.1086G>A | |
| 15 | g.48446715_48446718delinsCATT | CA2175494876 | FBN1 | c.5776_5779delinsAATG (p.Asn1926=) n.4450_4453delinsAATG c.775_778delinsAATG (p.Asn259=) c.*1539_*1542delinsAATG (n.*1539_*1542delinsAATG) c.1083_1086delinsAATG | |
| 15 | g.48446716del | CA2695220253 | FBN1 | c.5778del (p.Asn1926LysfsTer4) n.4452del c.777del (p.Asn259LysfsTer4) c.*1541del (n.*1541del) c.1085del | |
| 15 | g.48446716A= | CA2175494884 | FBN1 | c.5778T= (p.Asn1926=) n.4452T= c.777T= (p.Asn259=) c.*1541T= (n.*1541T=) c.1085T= | |
| 15 | g.48446716A>C | CA392341037 | FBN1 | c.5778T>G (p.Asn1926Lys) n.4452T>G c.777T>G (p.Asn259Lys) c.*1541T>G (n.*1541T>G) c.1085T>G | ClinVar dbSNP |
| 15 | g.48446716A>G | CA490022962 | FBN1 | c.5778T>C (p.Asn1926=) n.4452T>C c.777T>C (p.Asn259=) c.*1541T>C (n.*1541T>C) c.1085T>C | |
| 15 | g.48446716A>T | CA392341040 | FBN1 | c.5778T>A (p.Asn1926Lys) n.4452T>A c.777T>A (p.Asn259Lys) c.*1541T>A (n.*1541T>A) c.1085T>A | |
| 15 | g.48446716_48446718del | CA10587812 | FBN1 | c.5776_5778del (p.Asn1926del) n.4450_4452del c.775_777del (p.Asn259del) c.*1539_*1541del (n.*1539_*1541del) c.1083_1085del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446717T>A | CA392341042 | FBN1 | c.5777A>T (p.Asn1926Ile) n.4451A>T c.776A>T (p.Asn259Ile) c.*1540A>T (n.*1540A>T) c.1084A>T | |
| 15 | g.48446717T>C | CA392341044 | FBN1 | c.5777A>G (p.Asn1926Ser) n.4451A>G c.776A>G (p.Asn259Ser) c.*1540A>G (n.*1540A>G) c.1084A>G | dbSNP gnomAD v4 |
| 15 | g.48446717T>G | CA392341046 | FBN1 | c.5777A>C (p.Asn1926Thr) n.4451A>C c.776A>C (p.Asn259Thr) c.*1540A>C (n.*1540A>C) c.1084A>C | |
| 15 | g.48446717T= | CA2175494895 | FBN1 | c.5777A= (p.Asn1926=) n.4451A= c.776A= (p.Asn259=) c.*1540A= (n.*1540A=) c.1084A= | |
| 15 | g.48446718T>A | CA392341048 | FBN1 | c.5776A>T (p.Asn1926Tyr) n.4450A>T c.775A>T (p.Asn259Tyr) c.*1539A>T (n.*1539A>T) c.1083A>T | |
| 15 | g.48446718T>C | CA16614411 | FBN1 | c.5776A>G (p.Asn1926Asp) n.4450A>G c.775A>G (p.Asn259Asp) c.*1539A>G (n.*1539A>G) c.1083A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446718T>G | CA392341050 | FBN1 | c.5776A>C (p.Asn1926His) n.4450A>C c.775A>C (p.Asn259His) c.*1539A>C (n.*1539A>C) c.1083A>C | |
| 15 | g.48446718T= | CA2175494907 | FBN1 | c.5776A= (p.Asn1926=) n.4450A= c.775A= (p.Asn259=) c.*1539A= (n.*1539A=) c.1083A= | |
| 15 | g.48446719G>A | CA490022964 | FBN1 | c.5775C>T (p.Asn1925=) n.4449C>T c.774C>T (p.Asn258=) c.*1538C>T (n.*1538C>T) c.1082C>T | gnomAD v4 |
| 15 | g.48446719G>C | CA392341051 | FBN1 | c.5775C>G (p.Asn1925Lys) n.4449C>G c.774C>G (p.Asn258Lys) c.*1538C>G (n.*1538C>G) c.1082C>G | |
| 15 | g.48446719G>T | CA392341053 | FBN1 | c.5775C>A (p.Asn1925Lys) n.4449C>A c.774C>A (p.Asn258Lys) c.*1538C>A (n.*1538C>A) c.1082C>A | |
| 15 | g.48446720T>A | CA392341055 | FBN1 | c.5774A>T (p.Asn1925Ile) n.4448A>T c.773A>T (p.Asn258Ile) c.*1537A>T (n.*1537A>T) c.1081A>T | |
| 15 | g.48446720T>C | CA055509 | FBN1 | c.5774A>G (p.Asn1925Ser) n.4448A>G c.773A>G (p.Asn258Ser) c.*1537A>G (n.*1537A>G) c.1081A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446720T>G | CA392341059 | FBN1 | c.5774A>C (p.Asn1925Thr) n.4448A>C c.773A>C (p.Asn258Thr) c.*1537A>C (n.*1537A>C) c.1081A>C | |
| 15 | g.48446720T= | CA2175494913 | FBN1 | c.5774A= (p.Asn1925=) n.4448A= c.773A= (p.Asn258=) c.*1537A= (n.*1537A=) c.1081A= | |
| 15 | g.48446721T>A | CA392341061 | FBN1 | c.5773A>T (p.Asn1925Tyr) n.4447A>T c.772A>T (p.Asn258Tyr) c.*1536A>T (n.*1536A>T) c.1080A>T | |
| 15 | g.48446721T>C | CA392341064 | FBN1 | c.5773A>G (p.Asn1925Asp) n.4447A>G c.772A>G (p.Asn258Asp) c.*1536A>G (n.*1536A>G) c.1080A>G | |
| 15 | g.48446721T>G | CA392341066 | FBN1 | c.5773A>C (p.Asn1925His) n.4447A>C c.772A>C (p.Asn258His) c.*1536A>C (n.*1536A>C) c.1080A>C | |
| 15 | g.48446722G>A | CA490022966 | FBN1 | c.5772C>T (p.His1924=) n.4446C>T c.771C>T (p.His257=) c.*1535C>T (n.*1535C>T) c.1079C>T | |
| 15 | g.48446722G>C | CA392341067 | FBN1 | c.5772C>G (p.His1924Gln) n.4446C>G c.771C>G (p.His257Gln) c.*1535C>G (n.*1535C>G) c.1079C>G | |
| 15 | g.48446722G>T | CA392341068 | FBN1 | c.5772C>A (p.His1924Gln) n.4446C>A c.771C>A (p.His257Gln) c.*1535C>A (n.*1535C>A) c.1079C>A | gnomAD v4 |
| 15 | g.48446723T>A | CA392341071 | FBN1 | c.5771A>T (p.His1924Leu) n.4445A>T c.770A>T (p.His257Leu) c.*1534A>T (n.*1534A>T) c.1078A>T | |
| 15 | g.48446723T>C | CA055499 | FBN1 | c.5771A>G (p.His1924Arg) n.4445A>G c.770A>G (p.His257Arg) c.*1534A>G (n.*1534A>G) c.1078A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446723T>G | CA392341072 | FBN1 | c.5771A>C (p.His1924Pro) n.4445A>C c.770A>C (p.His257Pro) c.*1534A>C (n.*1534A>C) c.1078A>C | |
| 15 | g.48446723T= | CA2175494919 | FBN1 | c.5771A= (p.His1924=) n.4445A= c.770A= (p.His257=) c.*1534A= (n.*1534A=) c.1078A= | |
| 15 | g.48446724G>A | CA392341075 | FBN1 | c.5770C>T (p.His1924Tyr) n.4444C>T c.769C>T (p.His257Tyr) c.*1533C>T (n.*1533C>T) c.1077C>T | |
| 15 | g.48446724G>C | CA392341076 | FBN1 | c.5770C>G (p.His1924Asp) n.4444C>G c.769C>G (p.His257Asp) c.*1533C>G (n.*1533C>G) c.1077C>G | |
| 15 | g.48446724G= | CA2175494936 | FBN1 | c.5770C= (p.His1924=) n.4444C= c.769C= (p.His257=) c.*1533C= (n.*1533C=) c.1077C= | |
| 15 | g.48446724G>T | CA392341078 | FBN1 | c.5770C>A (p.His1924Asn) n.4444C>A c.769C>A (p.His257Asn) c.*1533C>A (n.*1533C>A) c.1077C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446725A>C | CA490022967 | FBN1 | c.5769T>G (p.Ser1923=) n.4443T>G c.768T>G (p.Ser256=) c.*1532T>G (n.*1532T>G) c.1076T>G |