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.48463935_48463953del | CA2580089542 | FBN1 | c.5013_5031del (p.Cys1672ThrfsTer4) n.3687_3705del c.12_30del (p.Cys5ThrfsTer4) c.*776_*794del (n.*776_*794del) c.320_338del | ClinVar |
| 15 | g.48463946_48463957del | CA2580089545 | FBN1 | c.5009_5020del (p.Tyr1670_Ile1673del) n.3683_3694del c.8_19del (p.Tyr3_Ile6del) c.*772_*783del (n.*772_*783del) c.316_327del | ClinVar |
| 15 | g.48463949_48463950dup | CA2695220534 | FBN1 | c.5015_5016dup (p.Ile1673ValfsTer10) n.3689_3690dup c.14_15dup (p.Ile6ValfsTer10) c.*778_*779dup (n.*778_*779dup) c.322_323dup | |
| 15 | g.48463949del | CA2695220535 | FBN1 | c.5015del (p.Cys1672LeufsTer10) n.3689del c.14del (p.Cys5LeufsTer10) c.*778del (n.*778del) c.322del | |
| 15 | g.48463949C>A | CA269548255 | FBN1 | c.5015G>T (p.Cys1672Phe) n.3689G>T c.14G>T (p.Cys5Phe) c.*778G>T (n.*778G>T) c.322G>T | ClinVar dbSNP |
| 15 | g.48463949C= | CA2175516173 | FBN1 | c.5015G= (p.Cys1672=) n.3689G= c.14G= (p.Cys5=) c.*778G= (n.*778G=) c.322G= | |
| 15 | g.48463949C>G | CA500016 | FBN1 | c.5015G>C (p.Cys1672Ser) n.3689G>C c.14G>C (p.Cys5Ser) c.*778G>C (n.*778G>C) c.322G>C | ClinVar dbSNP |
| 15 | g.48463949C>T | CA015547 | FBN1 | c.5015G>A (p.Cys1672Tyr) n.3689G>A c.14G>A (p.Cys5Tyr) c.*778G>A (n.*778G>A) c.322G>A | ClinVar dbSNP |
| 15 | g.48463950A= | CA2175516175 | FBN1 | c.5014T= (p.Cys1672=) n.3688T= c.13T= (p.Cys5=) c.*777T= (n.*777T=) c.321T= | |
| 15 | g.48463950A>C | CA269548272 | FBN1 | c.5014T>G (p.Cys1672Gly) n.3688T>G c.13T>G (p.Cys5Gly) c.*777T>G (n.*777T>G) c.321T>G | ClinVar dbSNP |
| 15 | g.48463950A>G | CA392349959 | FBN1 | c.5014T>C (p.Cys1672Arg) n.3688T>C c.13T>C (p.Cys5Arg) c.*777T>C (n.*777T>C) c.321T>C | ClinVar |
| 15 | g.48463950A>T | CA392349962 | FBN1 | c.5014T>A (p.Cys1672Ser) n.3688T>A c.13T>A (p.Cys5Ser) c.*777T>A (n.*777T>A) c.321T>A | |
| 15 | g.48463951G>A | CA054130 | FBN1 | c.5013C>T (p.Thr1671=) n.3687C>T c.12C>T (p.Thr4=) c.*776C>T (n.*776C>T) c.320C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48463951G>C | CA490025986 | FBN1 | c.5013C>G (p.Thr1671=) n.3687C>G c.12C>G (p.Thr4=) c.*776C>G (n.*776C>G) c.320C>G | |
| 15 | g.48463951G= | CA2175516177 | FBN1 | c.5013C= (p.Thr1671=) n.3687C= c.12C= (p.Thr4=) c.*776C= (n.*776C=) c.320C= | |
| 15 | g.48463951G>T | CA490025988 | FBN1 | c.5013C>A (p.Thr1671=) n.3687C>A c.12C>A (p.Thr4=) c.*776C>A (n.*776C>A) c.320C>A | |
| 15 | g.48463952G>A | CA392349978 | FBN1 | c.5012C>T (p.Thr1671Ile) n.3686C>T c.11C>T (p.Thr4Ile) c.*775C>T (n.*775C>T) c.319C>T | gnomAD v4 |
| 15 | g.48463952G>C | CA392349975 | FBN1 | c.5012C>G (p.Thr1671Ser) n.3686C>G c.11C>G (p.Thr4Ser) c.*775C>G (n.*775C>G) c.319C>G | |
| 15 | g.48463952G>T | CA392349972 | FBN1 | c.5012C>A (p.Thr1671Asn) n.3686C>A c.11C>A (p.Thr4Asn) c.*775C>A (n.*775C>A) c.319C>A | |
| 15 | g.48463953T>A | CA392349983 | FBN1 | c.5011A>T (p.Thr1671Ser) n.3685A>T c.10A>T (p.Thr4Ser) c.*774A>T (n.*774A>T) c.318A>T | gnomAD v4 |
| 15 | g.48463953T>C | CA392349987 | FBN1 | c.5011A>G (p.Thr1671Ala) n.3685A>G c.10A>G (p.Thr4Ala) c.*774A>G (n.*774A>G) c.318A>G | |
| 15 | g.48463953T>G | CA392349988 | FBN1 | c.5011A>C (p.Thr1671Pro) n.3685A>C c.10A>C (p.Thr4Pro) c.*774A>C (n.*774A>C) c.318A>C | ClinVar |
| 15 | g.48463954G>A | CA490025997 | FBN1 | c.5010C>T (p.Tyr1670=) n.3684C>T c.9C>T (p.Tyr3=) c.*773C>T (n.*773C>T) c.317C>T | gnomAD v4 |
| 15 | g.48463954G>C | CA392349992 | FBN1 | c.5010C>G (p.Tyr1670Ter) n.3684C>G c.9C>G (p.Tyr3Ter) c.*773C>G (n.*773C>G) c.317C>G | |
| 15 | g.48463954G>T | CA392349994 | FBN1 | c.5010C>A (p.Tyr1670Ter) n.3684C>A c.9C>A (p.Tyr3Ter) c.*773C>A (n.*773C>A) c.317C>A | |
| 15 | g.48463955T>A | CA392349997 | FBN1 | c.5009A>T (p.Tyr1670Phe) n.3683A>T c.8A>T (p.Tyr3Phe) c.*772A>T (n.*772A>T) c.316A>T | |
| 15 | g.48463955T>C | CA392350001 | FBN1 | c.5009A>G (p.Tyr1670Cys) n.3683A>G c.8A>G (p.Tyr3Cys) c.*772A>G (n.*772A>G) c.316A>G | ClinVar dbSNP |
| 15 | g.48463955T>G | CA392350004 | FBN1 | c.5009A>C (p.Tyr1670Ser) n.3683A>C c.8A>C (p.Tyr3Ser) c.*772A>C (n.*772A>C) c.316A>C | |
| 15 | g.48463955T= | CA2175516179 | FBN1 | c.5009A= (p.Tyr1670=) n.3683A= c.8A= (p.Tyr3=) c.*772A= (n.*772A=) c.316A= | |
| 15 | g.48463956A= | CA2175516181 | FBN1 | c.5008T= (p.Tyr1670=) n.3682T= c.7T= (p.Tyr3=) c.*771T= (n.*771T=) c.315T= | |
| 15 | g.48463956A>C | CA392350010 | FBN1 | c.5008T>G (p.Tyr1670Asp) n.3682T>G c.7T>G (p.Tyr3Asp) c.*771T>G (n.*771T>G) c.315T>G | |
| 15 | g.48463956A>G | CA392350015 | FBN1 | c.5008T>C (p.Tyr1670His) n.3682T>C c.7T>C (p.Tyr3His) c.*771T>C (n.*771T>C) c.315T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48463956A>T | CA392350017 | FBN1 | c.5008T>A (p.Tyr1670Asn) n.3682T>A c.7T>A (p.Tyr3Asn) c.*771T>A (n.*771T>A) c.315T>A | |
| 15 | g.48463957G>A | CA490026010 | FBN1 | c.5007C>T (p.Asn1669=) n.3681C>T c.6C>T (p.Asn2=) c.*770C>T (n.*770C>T) c.314C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48463957G>C | CA392350026 | FBN1 | c.5007C>G (p.Asn1669Lys) n.3681C>G c.6C>G (p.Asn2Lys) c.*770C>G (n.*770C>G) c.314C>G | |
| 15 | g.48463957G= | CA2175516182 | FBN1 | c.5007C= (p.Asn1669=) n.3681C= c.6C= (p.Asn2=) c.*770C= (n.*770C=) c.314C= | |
| 15 | g.48463957G>T | CA392350032 | FBN1 | c.5007C>A (p.Asn1669Lys) n.3681C>A c.6C>A (p.Asn2Lys) c.*770C>A (n.*770C>A) c.314C>A | |
| 15 | g.48463961_48463972del | CA2573150766 | FBN1 | c.4996_5007del (p.Thr1666_Asn1669del) n.3670_3681del c.*759_*770del (n.*759_*770del) c.303_314del | ClinVar dbSNP |
| 15 | g.48463957_48463958insACACTTAGAAGTACAGTTCACCAGCTGAACACAGAGCAATT | CA2741424790 | FBN1 | c.5006_5007insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT (p.Asn1669LysfsTer13) n.3680_3681insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT c.5_6insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT (p.Asn2LysfsTer13) c.*769_*770insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT (n.*769_*770insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT) c.313_314insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT | |
| 15 | g.48463958T>A | CA392350040 | FBN1 | c.5006A>T (p.Asn1669Ile) n.3680A>T c.5A>T (p.Asn2Ile) c.*769A>T (n.*769A>T) c.313A>T | |
| 15 | g.48463958T>C | CA392350043 | FBN1 | c.5006A>G (p.Asn1669Ser) n.3680A>G c.5A>G (p.Asn2Ser) c.*769A>G (n.*769A>G) c.313A>G | |
| 15 | g.48463958T>G | CA392350036 | FBN1 | c.5006A>C (p.Asn1669Thr) n.3680A>C c.5A>C (p.Asn2Thr) c.*769A>C (n.*769A>C) c.313A>C | |
| 15 | g.48463959T>A | CA392350046 | FBN1 | c.5005A>T (p.Asn1669Tyr) n.3679A>T c.4A>T (p.Asn2Tyr) c.*768A>T (n.*768A>T) c.312A>T | |
| 15 | g.48463959T>C | CA392350048 | FBN1 | c.5005A>G (p.Asn1669Asp) n.3679A>G c.4A>G (p.Asn2Asp) c.*768A>G (n.*768A>G) c.312A>G | |
| 15 | g.48463959T>G | CA392350047 | FBN1 | c.5005A>C (p.Asn1669His) n.3679A>C c.4A>C (p.Asn2His) c.*768A>C (n.*768A>C) c.312A>C | |
| 15 | g.48463960G>A | CA490026017 | FBN1 | c.5004C>T (p.Gly1668=) n.3678C>T c.3C>T (p.Gly1=) c.*767C>T (n.*767C>T) c.311C>T | gnomAD v4 |
| 15 | g.48463960G>C | CA490026019 | FBN1 | c.5004C>G (p.Gly1668=) n.3678C>G c.3C>G (p.Gly1=) c.*767C>G (n.*767C>G) c.311C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48463960G= | CA2175516184 | FBN1 | c.5004C= (p.Gly1668=) n.3678C= c.3C= (p.Gly1=) c.*767C= (n.*767C=) c.311C= | |
| 15 | g.48463960G>T | CA490026021 | FBN1 | c.5004C>A (p.Gly1668=) n.3678C>A c.3C>A (p.Gly1=) c.*767C>A (n.*767C>A) c.311C>A | |
| 15 | g.48463961C>A | CA392350053 | FBN1 | c.5003G>T (p.Gly1668Val) n.3677G>T c.2G>T (p.Gly1Val) c.*766G>T (n.*766G>T) c.310G>T |