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.48446678T>C | CA055592 | FBN1 | c.5788+28A>G (n.5788+28A>G) n.4462+28A>G c.787+28A>G (n.787+28A>G) c.*1551+28A>G (n.*1551+28A>G) c.1095+28A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446678T= | CA2175494714 | FBN1 | c.5788+28A= (n.5788+28A=) n.4462+28A= c.787+28A= (n.787+28A=) c.*1551+28A= (n.*1551+28A=) c.1095+28A= | |
| 15 | g.48446680G>T | CA2628347776 | FBN1 | c.5788+26C>A (n.5788+26C>A) n.4462+26C>A c.787+26C>A (n.787+26C>A) c.*1551+26C>A (n.*1551+26C>A) c.1095+26C>A | gnomAD v4 |
| 15 | g.48446681C>T | CA2628347777 | FBN1 | c.5788+25G>A (n.5788+25G>A) n.4462+25G>A c.787+25G>A (n.787+25G>A) c.*1551+25G>A (n.*1551+25G>A) c.1095+25G>A | gnomAD v4 |
| 15 | g.48446683G>A | CA2575716781 | FBN1 | c.5788+23C>T (n.5788+23C>T) n.4462+23C>T c.787+23C>T (n.787+23C>T) c.*1551+23C>T (n.*1551+23C>T) c.1095+23C>T | gnomAD v4 |
| 15 | g.48446683G>T | CA2575716782 | FBN1 | c.5788+23C>A (n.5788+23C>A) n.4462+23C>A c.787+23C>A (n.787+23C>A) c.*1551+23C>A (n.*1551+23C>A) c.1095+23C>A | gnomAD v4 |
| 15 | g.48446686G>A | CA055587 | FBN1 | c.5788+20C>T (n.5788+20C>T) n.4462+20C>T c.787+20C>T (n.787+20C>T) c.*1551+20C>T (n.*1551+20C>T) c.1095+20C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446686G= | CA2175494718 | FBN1 | c.5788+20C= (n.5788+20C=) n.4462+20C= c.787+20C= (n.787+20C=) c.*1551+20C= (n.*1551+20C=) c.1095+20C= | |
| 15 | g.48446686G>T | CA2628347778 | FBN1 | c.5788+20C>A (n.5788+20C>A) n.4462+20C>A c.787+20C>A (n.787+20C>A) c.*1551+20C>A (n.*1551+20C>A) c.1095+20C>A | gnomAD v4 |
| 15 | g.48446687C= | CA2175494724 | FBN1 | c.5788+19G= (n.5788+19G=) n.4462+19G= c.787+19G= (n.787+19G=) c.*1551+19G= (n.*1551+19G=) c.1095+19G= | |
| 15 | g.48446687C>T | CA055580 | FBN1 | c.5788+19G>A (n.5788+19G>A) n.4462+19G>A c.787+19G>A (n.787+19G>A) c.*1551+19G>A (n.*1551+19G>A) c.1095+19G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446689C= | CA2175494728 | FBN1 | c.5788+17G= (n.5788+17G=) n.4462+17G= c.787+17G= (n.787+17G=) c.*1551+17G= (n.*1551+17G=) c.1095+17G= | |
| 15 | g.48446689C>T | CA2175494729 | FBN1 | c.5788+17G>A (n.5788+17G>A) n.4462+17G>A c.787+17G>A (n.787+17G>A) c.*1551+17G>A (n.*1551+17G>A) c.1095+17G>A | dbSNP gnomAD v4 |
| 15 | g.48446691A= | CA2175494736 | FBN1 | c.5788+15T= (n.5788+15T=) n.4462+15T= c.787+15T= (n.787+15T=) c.*1551+15T= (n.*1551+15T=) c.1095+15T= | |
| 15 | g.48446691A>G | CA055570 | FBN1 | c.5788+15T>C (n.5788+15T>C) n.4462+15T>C c.787+15T>C (n.787+15T>C) c.*1551+15T>C (n.*1551+15T>C) c.1095+15T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446691A>T | CA055565 | FBN1 | c.5788+15T>A (n.5788+15T>A) n.4462+15T>A c.787+15T>A (n.787+15T>A) c.*1551+15T>A (n.*1551+15T>A) c.1095+15T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446691_48446693delinsATT | CA2175494741 | FBN1 | c.5788+13_5788+15delinsAAT (n.5788+13_5788+15delinsAAT) n.4462+13_4462+15delinsAAT c.787+13_787+15delinsAAT (n.787+13_787+15delinsAAT) c.*1551+13_*1551+15delinsAAT (n.*1551+13_*1551+15delinsAAT) c.1095+13_1095+15delinsAAT | |
| 15 | g.48446692T>C | CA055556 | FBN1 | c.5788+14A>G (n.5788+14A>G) n.4462+14A>G c.787+14A>G (n.787+14A>G) c.*1551+14A>G (n.*1551+14A>G) c.1095+14A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446692T= | CA2175494758 | FBN1 | c.5788+14A= (n.5788+14A=) n.4462+14A= c.787+14A= (n.787+14A=) c.*1551+14A= (n.*1551+14A=) c.1095+14A= | |
| 15 | g.48446694_48446695del | CA10587201 | FBN1 | c.5788+13_5788+14del (n.5788+13_5788+14del) n.4462+13_4462+14del c.787+13_787+14del (n.787+13_787+14del) c.*1551+13_*1551+14del (n.*1551+13_*1551+14del) c.1095+13_1095+14del | ClinVar dbSNP |
| 15 | g.48446694T>C | CA2628347779 | FBN1 | c.5788+12A>G (n.5788+12A>G) n.4462+12A>G c.787+12A>G (n.787+12A>G) c.*1551+12A>G (n.*1551+12A>G) c.1095+12A>G | gnomAD v4 |
| 15 | g.48446695_48446696delinsTG | CA2175494764 | FBN1 | c.5788+10_5788+11delinsCA (n.5788+10_5788+11delinsCA) n.4462+10_4462+11delinsCA c.787+10_787+11delinsCA (n.787+10_787+11delinsCA) c.*1551+10_*1551+11delinsCA (n.*1551+10_*1551+11delinsCA) c.1095+10_1095+11delinsCA | |
| 15 | g.48446696del | CA055545 | FBN1 | c.5788+10del (n.5788+10del) n.4462+10del c.787+10del (n.787+10del) c.*1551+10del (n.*1551+10del) c.1095+10del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446696G>A | CA2804070507 | FBN1 | c.5788+10C>T (n.5788+10C>T) n.4462+10C>T c.787+10C>T (n.787+10C>T) c.*1551+10C>T (n.*1551+10C>T) c.1095+10C>T | |
| 15 | g.48446696G= | CA2175494779 | FBN1 | c.5788+10C= (n.5788+10C=) n.4462+10C= c.787+10C= (n.787+10C=) c.*1551+10C= (n.*1551+10C=) c.1095+10C= | |
| 15 | g.48446696G>T | CA016056 | FBN1 | c.5788+10C>A (n.5788+10C>A) n.4462+10C>A c.787+10C>A (n.787+10C>A) c.*1551+10C>A (n.*1551+10C>A) c.1095+10C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446697C= | CA2175494783 | FBN1 | c.5788+9G= (n.5788+9G=) n.4462+9G= c.787+9G= (n.787+9G=) c.*1551+9G= (n.*1551+9G=) c.1095+9G= | |
| 15 | g.48446697C>T | CA617837404 | FBN1 | c.5788+9G>A (n.5788+9G>A) n.4462+9G>A c.787+9G>A (n.787+9G>A) c.*1551+9G>A (n.*1551+9G>A) c.1095+9G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446698A>G | CA2628347780 | FBN1 | c.5788+8T>C (n.5788+8T>C) n.4462+8T>C c.787+8T>C (n.787+8T>C) c.*1551+8T>C (n.*1551+8T>C) c.1095+8T>C | gnomAD v4 |
| 15 | g.48446699C>T | CA2628347781 | FBN1 | c.5788+7G>A (n.5788+7G>A) n.4462+7G>A c.787+7G>A (n.787+7G>A) c.*1551+7G>A (n.*1551+7G>A) c.1095+7G>A | gnomAD v4 |
| 15 | g.48446700A= | CA2175494786 | FBN1 | c.5788+6T= (n.5788+6T=) n.4462+6T= c.787+6T= (n.787+6T=) c.*1551+6T= (n.*1551+6T=) c.1095+6T= | |
| 15 | g.48446700A>C | CA891844488 | FBN1 | c.5788+6T>G (n.5788+6T>G) n.4462+6T>G c.787+6T>G (n.787+6T>G) c.*1551+6T>G (n.*1551+6T>G) c.1095+6T>G | ClinVar dbSNP |
| 15 | g.48446701C>A | CA016073 | FBN1 | c.5788+5G>T (n.5788+5G>T) n.4462+5G>T c.787+5G>T (n.787+5G>T) c.*1551+5G>T (n.*1551+5G>T) c.1095+5G>T | ClinVar dbSNP |
| 15 | g.48446701C= | CA2175494798 | FBN1 | c.5788+5G= (n.5788+5G=) n.4462+5G= c.787+5G= (n.787+5G=) c.*1551+5G= (n.*1551+5G=) c.1095+5G= | |
| 15 | g.48446701C>G | CA2695220247 | FBN1 | c.5788+5G>C (n.5788+5G>C) n.4462+5G>C c.787+5G>C (n.787+5G>C) c.*1551+5G>C (n.*1551+5G>C) c.1095+5G>C | ClinVar |
| 15 | g.48446701C>T | CA016065 | FBN1 | c.5788+5G>A (n.5788+5G>A) n.4462+5G>A c.787+5G>A (n.787+5G>A) c.*1551+5G>A (n.*1551+5G>A) c.1095+5G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446702G>A | CA055647 | FBN1 | c.5788+4C>T (n.5788+4C>T) n.4462+4C>T c.787+4C>T (n.787+4C>T) c.*1551+4C>T (n.*1551+4C>T) c.1095+4C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446702G= | CA2175494814 | FBN1 | c.5788+4C= (n.5788+4C=) n.4462+4C= c.787+4C= (n.787+4C=) c.*1551+4C= (n.*1551+4C=) c.1095+4C= | |
| 15 | g.48446702G>T | CA055644 | FBN1 | c.5788+4C>A (n.5788+4C>A) n.4462+4C>A c.787+4C>A (n.787+4C>A) c.*1551+4C>A (n.*1551+4C>A) c.1095+4C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446703C= | CA2175494821 | FBN1 | c.5788+3G= (n.5788+3G=) n.4462+3G= c.787+3G= (n.787+3G=) c.*1551+3G= (n.*1551+3G=) c.1095+3G= | |
| 15 | g.48446703C>T | CA055616 | FBN1 | c.5788+3G>A (n.5788+3G>A) n.4462+3G>A c.787+3G>A (n.787+3G>A) c.*1551+3G>A (n.*1551+3G>A) c.1095+3G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446704A= | CA2175494827 | FBN1 | c.5788+2T= (n.5788+2T=) n.4462+2T= c.787+2T= (n.787+2T=) c.*1551+2T= (n.*1551+2T=) c.1095+2T= | |
| 15 | g.48446704A>C | CA392340986 | FBN1 | c.5788+2T>G (n.5788+2T>G) n.4462+2T>G c.787+2T>G (n.787+2T>G) c.*1551+2T>G (n.*1551+2T>G) c.1095+2T>G | |
| 15 | g.48446704A>G | CA392340988 | FBN1 | c.5788+2T>C (n.5788+2T>C) n.4462+2T>C c.787+2T>C (n.787+2T>C) c.*1551+2T>C (n.*1551+2T>C) c.1095+2T>C | ClinVar dbSNP |
| 15 | g.48446704A>T | CA392340990 | FBN1 | c.5788+2T>A (n.5788+2T>A) n.4462+2T>A c.787+2T>A (n.787+2T>A) c.*1551+2T>A (n.*1551+2T>A) c.1095+2T>A | |
| 15 | g.48446705C>A | CA392340993 | FBN1 | c.5788+1G>T (n.5788+1G>T) n.4462+1G>T c.787+1G>T (n.787+1G>T) c.*1551+1G>T (n.*1551+1G>T) c.1095+1G>T | ClinVar dbSNP |
| 15 | g.48446705C= | CA2175494832 | FBN1 | c.5788+1G= (n.5788+1G=) n.4462+1G= c.787+1G= (n.787+1G=) c.*1551+1G= (n.*1551+1G=) c.1095+1G= | |
| 15 | g.48446705C>G | CA392340996 | FBN1 | c.5788+1G>C (n.5788+1G>C) n.4462+1G>C c.787+1G>C (n.787+1G>C) c.*1551+1G>C (n.*1551+1G>C) c.1095+1G>C | |
| 15 | g.48446705C>T | CA392340994 | FBN1 | c.5788+1G>A (n.5788+1G>A) n.4462+1G>A c.787+1G>A (n.787+1G>A) c.*1551+1G>A (n.*1551+1G>A) c.1095+1G>A | ClinVar dbSNP |
| 15 | g.48446706C>A | CA392340998 | FBN1 | c.5788G>T (p.Asp1930Tyr) n.4462G>T c.787G>T (p.Asp263Tyr) c.*1551G>T (n.*1551G>T) c.1095G>T | ClinVar dbSNP |
| 15 | g.48446706C= | CA2175494848 | FBN1 | c.5788G= (p.Asp1930=) n.4462G= c.787G= (p.Asp263=) c.*1551G= (n.*1551G=) c.1095G= | |
| 15 | g.48446706C>G | CA392341000 | FBN1 | c.5788G>C (p.Asp1930His) n.4462G>C c.787G>C (p.Asp263His) c.*1551G>C (n.*1551G>C) c.1095G>C | ClinVar dbSNP |
| 15 | g.48446706C>T | CA392341002 | FBN1 | c.5788G>A (p.Asp1930Asn) n.4462G>A c.787G>A (p.Asp263Asn) c.*1551G>A (n.*1551G>A) c.1095G>A | ClinVar dbSNP |
| 15 | g.48446707T>A | CA490022954 | FBN1 | c.5787A>T (p.Ile1929=) n.4461A>T c.786A>T (p.Ile262=) c.*1550A>T (n.*1550A>T) c.1094A>T | |
| 15 | g.48446707T>C | CA392341003 | FBN1 | c.5787A>G (p.Ile1929Met) n.4461A>G c.786A>G (p.Ile262Met) c.*1550A>G (n.*1550A>G) c.1094A>G | |
| 15 | g.48446707T>G | CA490022955 | FBN1 | c.5787A>C (p.Ile1929=) n.4461A>C c.786A>C (p.Ile262=) c.*1550A>C (n.*1550A>C) c.1094A>C | |
| 15 | g.48446708A= | CA2175494849 | FBN1 | c.5786T= (p.Ile1929=) n.4460T= c.785T= (p.Ile262=) c.*1549T= (n.*1549T=) c.1093T= | |
| 15 | g.48446708A>C | CA392341004 | FBN1 | c.5786T>G (p.Ile1929Arg) n.4460T>G c.785T>G (p.Ile262Arg) c.*1549T>G (n.*1549T>G) c.1093T>G | |
| 15 | g.48446708A>G | CA055522 | FBN1 | c.5786T>C (p.Ile1929Thr) n.4460T>C c.785T>C (p.Ile262Thr) c.*1549T>C (n.*1549T>C) c.1093T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446708A>T | CA392341007 | FBN1 | c.5786T>A (p.Ile1929Lys) n.4460T>A c.785T>A (p.Ile262Lys) c.*1549T>A (n.*1549T>A) c.1093T>A | |
| 15 | g.48446709T>A | CA392341009 | FBN1 | c.5785A>T (p.Ile1929Leu) n.4459A>T c.784A>T (p.Ile262Leu) c.*1548A>T (n.*1548A>T) c.1092A>T | |
| 15 | g.48446709T>C | CA055517 | FBN1 | c.5785A>G (p.Ile1929Val) n.4459A>G c.784A>G (p.Ile262Val) c.*1548A>G (n.*1548A>G) c.1092A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446709T>G | CA392341012 | FBN1 | c.5785A>C (p.Ile1929Leu) n.4459A>C c.784A>C (p.Ile262Leu) c.*1548A>C (n.*1548A>C) c.1092A>C | |
| 15 | g.48446709T= | CA2175494853 | FBN1 | c.5785A= (p.Ile1929=) n.4459A= c.784A= (p.Ile262=) c.*1548A= (n.*1548A=) c.1092A= | |
| 15 | g.48446710A>C | CA392341013 | FBN1 | c.5784T>G (p.Cys1928Trp) n.4458T>G c.783T>G (p.Cys261Trp) c.*1547T>G (n.*1547T>G) c.1091T>G | |
| 15 | g.48446710A>G | CA490022959 | FBN1 | c.5784T>C (p.Cys1928=) n.4458T>C c.783T>C (p.Cys261=) c.*1547T>C (n.*1547T>C) c.1091T>C | COSMIC |
| 15 | g.48446710A>T | CA392341014 | FBN1 | c.5784T>A (p.Cys1928Ter) n.4458T>A c.783T>A (p.Cys261Ter) c.*1547T>A (n.*1547T>A) c.1091T>A | |
| 15 | g.48446710dup | CA2628347782 | FBN1 | c.5784dup (p.Ile1929TyrfsTer4) n.4458dup c.783dup (p.Ile262TyrfsTer4) c.*1547dup (n.*1547dup) c.1091dup | gnomAD v4 |
| 15 | g.48446711C>A | CA016047 | FBN1 | c.5783G>T (p.Cys1928Phe) n.4457G>T c.782G>T (p.Cys261Phe) c.*1546G>T (n.*1546G>T) c.1090G>T | ClinVar dbSNP |
| 15 | g.48446711C= | CA2175494859 | FBN1 | c.5783G= (p.Cys1928=) n.4457G= c.782G= (p.Cys261=) c.*1546G= (n.*1546G=) c.1090G= | |
| 15 | g.48446711C>G | CA392341015 | FBN1 | c.5783G>C (p.Cys1928Ser) n.4457G>C c.782G>C (p.Cys261Ser) c.*1546G>C (n.*1546G>C) c.1090G>C | |
| 15 | g.48446711C>T | CA392341016 | FBN1 | c.5783G>A (p.Cys1928Tyr) n.4457G>A c.782G>A (p.Cys261Tyr) c.*1546G>A (n.*1546G>A) c.1090G>A | ClinVar dbSNP gnomAD v4 |
| 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 | |
| 15 | g.48446725A>G | CA490022969 | FBN1 | c.5769T>C (p.Ser1923=) n.4443T>C c.768T>C (p.Ser256=) c.*1532T>C (n.*1532T>C) c.1076T>C | |
| 15 | g.48446725A>T | CA490022970 | FBN1 | c.5769T>A (p.Ser1923=) n.4443T>A c.768T>A (p.Ser256=) c.*1532T>A (n.*1532T>A) c.1076T>A | |
| 15 | g.48446726G>A | CA392341080 | FBN1 | c.5768C>T (p.Ser1923Phe) n.4442C>T c.767C>T (p.Ser256Phe) c.*1531C>T (n.*1531C>T) c.1075C>T | |
| 15 | g.48446726G>C | CA392341082 | FBN1 | c.5768C>G (p.Ser1923Cys) n.4442C>G c.767C>G (p.Ser256Cys) c.*1531C>G (n.*1531C>G) c.1075C>G | |
| 15 | g.48446726G>T | CA392341084 | FBN1 | c.5768C>A (p.Ser1923Tyr) n.4442C>A c.767C>A (p.Ser256Tyr) c.*1531C>A (n.*1531C>A) c.1075C>A | |
| 15 | g.48446727A= | CA2175494943 | FBN1 | c.5767T= (p.Ser1923=) n.4441T= c.766T= (p.Ser256=) c.*1530T= (n.*1530T=) c.1074T= | |
| 15 | g.48446727A>C | CA392341086 | FBN1 | c.5767T>G (p.Ser1923Ala) n.4441T>G c.766T>G (p.Ser256Ala) c.*1530T>G (n.*1530T>G) c.1074T>G | |
| 15 | g.48446727A>G | CA016036 | FBN1 | c.5767T>C (p.Ser1923Pro) n.4441T>C c.766T>C (p.Ser256Pro) c.*1530T>C (n.*1530T>C) c.1074T>C | ClinVar dbSNP |
| 15 | g.48446727A>T | CA392341089 | FBN1 | c.5767T>A (p.Ser1923Thr) n.4441T>A c.766T>A (p.Ser256Thr) c.*1530T>A (n.*1530T>A) c.1074T>A | |
| 15 | g.48446728A>C | CA490022971 | FBN1 | c.5766T>G (p.Leu1922=) n.4440T>G c.765T>G (p.Leu255=) c.*1529T>G (n.*1529T>G) c.1073T>G | |
| 15 | g.48446728A>G | CA490022972 | FBN1 | c.5766T>C (p.Leu1922=) n.4440T>C c.765T>C (p.Leu255=) c.*1529T>C (n.*1529T>C) c.1073T>C | |
| 15 | g.48446728A>T | CA490022973 | FBN1 | c.5766T>A (p.Leu1922=) n.4440T>A c.765T>A (p.Leu255=) c.*1529T>A (n.*1529T>A) c.1073T>A | |
| 15 | g.48446729A>C | CA392341091 | FBN1 | c.5765T>G (p.Leu1922Arg) n.4439T>G c.764T>G (p.Leu255Arg) c.*1528T>G (n.*1528T>G) c.1072T>G | |
| 15 | g.48446729A>G | CA392341093 | FBN1 | c.5765T>C (p.Leu1922Pro) n.4439T>C c.764T>C (p.Leu255Pro) c.*1528T>C (n.*1528T>C) c.1072T>C | |
| 15 | g.48446729A>T | CA392341095 | FBN1 | c.5765T>A (p.Leu1922His) n.4439T>A c.764T>A (p.Leu255His) c.*1528T>A (n.*1528T>A) c.1072T>A | |
| 15 | g.48446730G>A | CA392341097 | FBN1 | c.5764C>T (p.Leu1922Phe) n.4438C>T c.763C>T (p.Leu255Phe) c.*1527C>T (n.*1527C>T) c.1071C>T | |
| 15 | g.48446730G>C | CA392341101 | FBN1 | c.5764C>G (p.Leu1922Val) n.4438C>G c.763C>G (p.Leu255Val) c.*1527C>G (n.*1527C>G) c.1071C>G | gnomAD v4 |
| 15 | g.48446730G>T | CA392341099 | FBN1 | c.5764C>A (p.Leu1922Ile) n.4438C>A c.763C>A (p.Leu255Ile) c.*1527C>A (n.*1527C>A) c.1071C>A | |
| 15 | g.48446731G>A | CA269533720 | FBN1 | c.5763C>T (p.Ile1921=) n.4437C>T c.762C>T (p.Ile254=) c.*1526C>T (n.*1526C>T) c.1070C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48446731G>C | CA392341103 | FBN1 | c.5763C>G (p.Ile1921Met) n.4437C>G c.762C>G (p.Ile254Met) c.*1526C>G (n.*1526C>G) c.1070C>G | |
| 15 | g.48446731G= | CA2175494959 | FBN1 | c.5763C= (p.Ile1921=) n.4437C= c.762C= (p.Ile254=) c.*1526C= (n.*1526C=) c.1070C= | |
| 15 | g.48446731G>T | CA490022974 | FBN1 | c.5763C>A (p.Ile1921=) n.4437C>A c.762C>A (p.Ile254=) c.*1526C>A (n.*1526C>A) c.1070C>A | |
| 15 | g.48446732A= | CA2175494964 | FBN1 | c.5762T= (p.Ile1921=) n.4436T= c.761T= (p.Ile254=) c.*1525T= (n.*1525T=) c.1069T= | |
| 15 | g.48446732A>C | CA392341106 | FBN1 | c.5762T>G (p.Ile1921Ser) n.4436T>G c.761T>G (p.Ile254Ser) c.*1525T>G (n.*1525T>G) c.1069T>G | ClinVar gnomAD v4 |
| 15 | g.48446732A>G | CA392341107 | FBN1 | c.5762T>C (p.Ile1921Thr) n.4436T>C c.761T>C (p.Ile254Thr) c.*1525T>C (n.*1525T>C) c.1069T>C | dbSNP |
| 15 | g.48446732A>T | CA392341109 | FBN1 | c.5762T>A (p.Ile1921Asn) n.4436T>A c.761T>A (p.Ile254Asn) c.*1525T>A (n.*1525T>A) c.1069T>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446733T>A | CA392341112 | FBN1 | c.5761A>T (p.Ile1921Phe) n.4435A>T c.760A>T (p.Ile254Phe) c.*1524A>T (n.*1524A>T) c.1068A>T | |
| 15 | g.48446733T>C | CA392341113 | FBN1 | c.5761A>G (p.Ile1921Val) n.4435A>G c.760A>G (p.Ile254Val) c.*1524A>G (n.*1524A>G) c.1068A>G | |
| 15 | g.48446733T>G | CA392341116 | FBN1 | c.5761A>C (p.Ile1921Leu) n.4435A>C c.760A>C (p.Ile254Leu) c.*1524A>C (n.*1524A>C) c.1068A>C | |
| 15 | g.48446734G>A | CA490022975 | FBN1 | c.5760C>T (p.Phe1920=) n.4434C>T c.759C>T (p.Phe253=) c.*1523C>T (n.*1523C>T) c.1067C>T | |
| 15 | g.48446734G>C | CA392341118 | FBN1 | c.5760C>G (p.Phe1920Leu) n.4434C>G c.759C>G (p.Phe253Leu) c.*1523C>G (n.*1523C>G) c.1067C>G | |
| 15 | g.48446734G>T | CA392341119 | FBN1 | c.5760C>A (p.Phe1920Leu) n.4434C>A c.759C>A (p.Phe253Leu) c.*1523C>A (n.*1523C>A) c.1067C>A | COSMIC |
| 15 | g.48446735A>C | CA392341122 | FBN1 | c.5759T>G (p.Phe1920Cys) n.4433T>G c.758T>G (p.Phe253Cys) c.*1522T>G (n.*1522T>G) c.1066T>G | |
| 15 | g.48446735A>G | CA392341123 | FBN1 | c.5759T>C (p.Phe1920Ser) n.4433T>C c.758T>C (p.Phe253Ser) c.*1522T>C (n.*1522T>C) c.1066T>C | |
| 15 | g.48446735A>T | CA392341125 | FBN1 | c.5759T>A (p.Phe1920Tyr) n.4433T>A c.758T>A (p.Phe253Tyr) c.*1522T>A (n.*1522T>A) c.1066T>A | |
| 15 | g.48446736A>C | CA392341130 | FBN1 | c.5758T>G (p.Phe1920Val) n.4432T>G c.757T>G (p.Phe253Val) c.*1521T>G (n.*1521T>G) c.1065T>G | |
| 15 | g.48446736A>G | CA392341128 | FBN1 | c.5758T>C (p.Phe1920Leu) n.4432T>C c.757T>C (p.Phe253Leu) c.*1521T>C (n.*1521T>C) c.1065T>C | |
| 15 | g.48446736A>T | CA392341129 | FBN1 | c.5758T>A (p.Phe1920Ile) n.4432T>A c.757T>A (p.Phe253Ile) c.*1521T>A (n.*1521T>A) c.1065T>A | |
| 15 | g.48446737A= | CA2175494971 | FBN1 | c.5757T= (p.Gly1919=) n.4431T= c.756T= (p.Gly252=) c.*1520T= (n.*1520T=) c.1064T= | |
| 15 | g.48446737A>C | CA490022976 | FBN1 | c.5757T>G (p.Gly1919=) n.4431T>G c.756T>G (p.Gly252=) c.*1520T>G (n.*1520T>G) c.1064T>G | |
| 15 | g.48446737A>G | CA055488 | FBN1 | c.5757T>C (p.Gly1919=) n.4431T>C c.756T>C (p.Gly252=) c.*1520T>C (n.*1520T>C) c.1064T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446737A>T | CA490022977 | FBN1 | c.5757T>A (p.Gly1919=) n.4431T>A c.756T>A (p.Gly252=) c.*1520T>A (n.*1520T>A) c.1064T>A | |
| 15 | g.48446737_48446738delinsAC | CA2175494974 | FBN1 | c.5756_5757delinsGT (p.Gly1919=) n.4430_4431delinsGT c.755_756delinsGT (p.Gly252=) c.*1519_*1520delinsGT (n.*1519_*1520delinsGT) c.1063_1064delinsGT | |
| 15 | g.48446738C>A | CA392341134 | FBN1 | c.5756G>T (p.Gly1919Val) n.4430G>T c.755G>T (p.Gly252Val) c.*1519G>T (n.*1519G>T) c.1063G>T | |
| 15 | g.48446738C>G | CA392341135 | FBN1 | c.5756G>C (p.Gly1919Ala) n.4430G>C c.755G>C (p.Gly252Ala) c.*1519G>C (n.*1519G>C) c.1063G>C | ClinVar dbSNP |
| 15 | g.48446738C>T | CA392341137 | FBN1 | c.5756G>A (p.Gly1919Asp) n.4430G>A c.755G>A (p.Gly252Asp) c.*1519G>A (n.*1519G>A) c.1063G>A | |
| 15 | g.48446739del | CA658798345 | FBN1 | c.5756del (p.Gly1919ValfsTer11) n.4430del c.755del (p.Gly252ValfsTer11) c.*1519del (n.*1519del) c.1063del | ClinVar dbSNP |
| 15 | g.48446739C>A | CA269533721 | FBN1 | c.5755G>T (p.Gly1919Cys) n.4429G>T c.754G>T (p.Gly252Cys) c.*1518G>T (n.*1518G>T) c.1062G>T | dbSNP |
| 15 | g.48446739C= | CA2175494997 | FBN1 | c.5755G= (p.Gly1919=) n.4429G= c.754G= (p.Gly252=) c.*1518G= (n.*1518G=) c.1062G= | |
| 15 | g.48446739C>G | CA392341139 | FBN1 | c.5755G>C (p.Gly1919Arg) n.4429G>C c.754G>C (p.Gly252Arg) c.*1518G>C (n.*1518G>C) c.1062G>C | |
| 15 | g.48446739C>T | CA392341141 | FBN1 | c.5755G>A (p.Gly1919Ser) n.4429G>A c.754G>A (p.Gly252Ser) c.*1518G>A (n.*1518G>A) c.1062G>A | ClinVar dbSNP |
| 15 | g.48446740A= | CA2175495005 | FBN1 | c.5754T= (p.His1918=) n.4428T= c.753T= (p.His251=) c.*1517T= (n.*1517T=) c.1061T= | |
| 15 | g.48446740A>C | CA392341143 | FBN1 | c.5754T>G (p.His1918Gln) n.4428T>G c.753T>G (p.His251Gln) c.*1517T>G (n.*1517T>G) c.1061T>G | |
| 15 | g.48446740A>G | CA490022979 | FBN1 | c.5754T>C (p.His1918=) n.4428T>C c.753T>C (p.His251=) c.*1517T>C (n.*1517T>C) c.1061T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446740A>T | CA392341145 | FBN1 | c.5754T>A (p.His1918Gln) n.4428T>A c.753T>A (p.His251Gln) c.*1517T>A (n.*1517T>A) c.1061T>A | |
| 15 | g.48446741T>A | CA392341147 | FBN1 | c.5753A>T (p.His1918Leu) n.4427A>T c.752A>T (p.His251Leu) c.*1516A>T (n.*1516A>T) c.1060A>T | |
| 15 | g.48446741T>C | CA269533722 | FBN1 | c.5753A>G (p.His1918Arg) n.4427A>G c.752A>G (p.His251Arg) c.*1516A>G (n.*1516A>G) c.1060A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446741T>G | CA392341149 | FBN1 | c.5753A>C (p.His1918Pro) n.4427A>C c.752A>C (p.His251Pro) c.*1516A>C (n.*1516A>C) c.1060A>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446741T= | CA2175495010 | FBN1 | c.5753A= (p.His1918=) n.4427A= c.752A= (p.His251=) c.*1516A= (n.*1516A=) c.1060A= | |
| 15 | g.48446742G>A | CA392341155 | FBN1 | c.5752C>T (p.His1918Tyr) n.4426C>T c.751C>T (p.His251Tyr) c.*1515C>T (n.*1515C>T) c.1059C>T | |
| 15 | g.48446742G>C | CA392341152 | FBN1 | c.5752C>G (p.His1918Asp) n.4426C>G c.751C>G (p.His251Asp) c.*1515C>G (n.*1515C>G) c.1059C>G | |
| 15 | g.48446742G>T | CA392341154 | FBN1 | c.5752C>A (p.His1918Asn) n.4426C>A c.751C>A (p.His251Asn) c.*1515C>A (n.*1515C>A) c.1059C>A | |
| 15 | g.48446743A>C | CA392341157 | FBN1 | c.5751T>G (p.Asn1917Lys) n.4425T>G c.750T>G (p.Asn250Lys) c.*1514T>G (n.*1514T>G) c.1058T>G | |
| 15 | g.48446743A>G | CA490022980 | FBN1 | c.5751T>C (p.Asn1917=) n.4425T>C c.750T>C (p.Asn250=) c.*1514T>C (n.*1514T>C) c.1058T>C | |
| 15 | g.48446743A>T | CA392341159 | FBN1 | c.5751T>A (p.Asn1917Lys) n.4425T>A c.750T>A (p.Asn250Lys) c.*1514T>A (n.*1514T>A) c.1058T>A | |
| 15 | g.48446744T>A | CA392341161 | FBN1 | c.5750A>T (p.Asn1917Ile) n.4424A>T c.749A>T (p.Asn250Ile) c.*1513A>T (n.*1513A>T) c.1057A>T | |
| 15 | g.48446744T>C | CA392341162 | FBN1 | c.5750A>G (p.Asn1917Ser) n.4424A>G c.749A>G (p.Asn250Ser) c.*1513A>G (n.*1513A>G) c.1057A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446744T>G | CA392341165 | FBN1 | c.5750A>C (p.Asn1917Thr) n.4424A>C c.749A>C (p.Asn250Thr) c.*1513A>C (n.*1513A>C) c.1057A>C | |
| 15 | g.48446744T= | CA2175495016 | FBN1 | c.5750A= (p.Asn1917=) n.4424A= c.749A= (p.Asn250=) c.*1513A= (n.*1513A=) c.1057A= | |
| 15 | g.48446745T>A | CA392341167 | FBN1 | c.5749A>T (p.Asn1917Tyr) n.4423A>T c.748A>T (p.Asn250Tyr) c.*1512A>T (n.*1512A>T) c.1056A>T | |
| 15 | g.48446745T>C | CA392341168 | FBN1 | c.5749A>G (p.Asn1917Asp) n.4423A>G c.748A>G (p.Asn250Asp) c.*1512A>G (n.*1512A>G) c.1056A>G | |
| 15 | g.48446745T>G | CA392341171 | FBN1 | c.5749A>C (p.Asn1917His) n.4423A>C c.748A>C (p.Asn250His) c.*1512A>C (n.*1512A>C) c.1056A>C | |
| 15 | g.48446745T= | CA2175495022 | FBN1 | c.5749A= (p.Asn1917=) n.4423A= c.748A= (p.Asn250=) c.*1512A= (n.*1512A=) c.1056A= | |
| 15 | g.48446746G>A | CA490022981 | FBN1 | c.5748C>T (p.Cys1916=) n.4422C>T c.747C>T (p.Cys249=) c.*1511C>T (n.*1511C>T) c.1055C>T | gnomAD v4 |
| 15 | g.48446746G>C | CA392341172 | FBN1 | c.5748C>G (p.Cys1916Trp) n.4422C>G c.747C>G (p.Cys249Trp) c.*1511C>G (n.*1511C>G) c.1055C>G | |
| 15 | g.48446746G>T | CA392341173 | FBN1 | c.5748C>A (p.Cys1916Ter) n.4422C>A c.747C>A (p.Cys249Ter) c.*1511C>A (n.*1511C>A) c.1055C>A | |
| 15 | g.48446748_48446750dup | CA915945985 | FBN1 | c.5746_5748dup (p.Cys1916_Asn1917insCys) n.4420_4422dup c.745_747dup (p.Cys249_Asn250insCys) c.*1509_*1511dup (n.*1509_*1511dup) c.1053_1055dup | ClinVar dbSNP |
| 15 | g.48446747C>A | CA392341176 | FBN1 | c.5747G>T (p.Cys1916Phe) n.4421G>T c.746G>T (p.Cys249Phe) c.*1510G>T (n.*1510G>T) c.1054G>T | ClinVar dbSNP |
| 15 | g.48446747C= | CA2175495042 | FBN1 | c.5747G= (p.Cys1916=) n.4421G= c.746G= (p.Cys249=) c.*1510G= (n.*1510G=) c.1054G= | |
| 15 | g.48446747C>G | CA392341177 | FBN1 | c.5747G>C (p.Cys1916Ser) n.4421G>C c.746G>C (p.Cys249Ser) c.*1510G>C (n.*1510G>C) c.1054G>C | |
| 15 | g.48446747C>T | CA016026 | FBN1 | c.5747G>A (p.Cys1916Tyr) n.4421G>A c.746G>A (p.Cys249Tyr) c.*1510G>A (n.*1510G>A) c.1054G>A | ClinVar dbSNP |
| 15 | g.48446748A= | CA2175495046 | FBN1 | c.5746T= (p.Cys1916=) n.4420T= c.745T= (p.Cys249=) c.*1509T= (n.*1509T=) c.1053T= | |
| 15 | g.48446748A>C | CA392341183 | FBN1 | c.5746T>G (p.Cys1916Gly) n.4420T>G c.745T>G (p.Cys249Gly) c.*1509T>G (n.*1509T>G) c.1053T>G | ClinVar dbSNP |
| 15 | g.48446748A>G | CA016016 | FBN1 | c.5746T>C (p.Cys1916Arg) n.4420T>C c.745T>C (p.Cys249Arg) c.*1509T>C (n.*1509T>C) c.1053T>C | ClinVar dbSNP |
| 15 | g.48446748A>T | CA392341181 | FBN1 | c.5746T>A (p.Cys1916Ser) n.4420T>A c.745T>A (p.Cys249Ser) c.*1509T>A (n.*1509T>A) c.1053T>A | |
| 15 | g.48446749G>A | CA490022982 | FBN1 | c.5745C>T (p.Arg1915=) n.4419C>T c.744C>T (p.Arg248=) c.*1508C>T (n.*1508C>T) c.1052C>T | gnomAD v4 |
| 15 | g.48446749G>C | CA490022983 | FBN1 | c.5745C>G (p.Arg1915=) n.4419C>G c.744C>G (p.Arg248=) c.*1508C>G (n.*1508C>G) c.1052C>G | |
| 15 | g.48446749G>T | CA490022984 | FBN1 | c.5745C>A (p.Arg1915=) n.4419C>A c.744C>A (p.Arg248=) c.*1508C>A (n.*1508C>A) c.1052C>A | |
| 15 | g.48446750C>A | CA392341185 | FBN1 | c.5744G>T (p.Arg1915Leu) n.4418G>T c.743G>T (p.Arg248Leu) c.*1507G>T (n.*1507G>T) c.1051G>T | gnomAD v4 |
| 15 | g.48446750C= | CA2175495051 | FBN1 | c.5744G= (p.Arg1915=) n.4418G= c.743G= (p.Arg248=) c.*1507G= (n.*1507G=) c.1051G= | |
| 15 | g.48446750C>G | CA392341186 | FBN1 | c.5744G>C (p.Arg1915Pro) n.4418G>C c.743G>C (p.Arg248Pro) c.*1507G>C (n.*1507G>C) c.1051G>C | |
| 15 | g.48446750C>T | CA392341188 | FBN1 | c.5744G>A (p.Arg1915His) n.4418G>A c.743G>A (p.Arg248His) c.*1507G>A (n.*1507G>A) c.1051G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48446750_48446751insA | CA645584728 | FBN1 | c.5743_5744insT (p.Arg1915LeufsTer13) n.4417_4418insT c.742_743insT (p.Arg248LeufsTer13) c.*1506_*1507insT (n.*1506_*1507insT) c.1050_1051insT | COSMIC |
| 15 | g.48446751G>A | CA392341191 | FBN1 | c.5743C>T (p.Arg1915Cys) n.4417C>T c.742C>T (p.Arg248Cys) c.*1506C>T (n.*1506C>T) c.1050C>T | ClinVar dbSNP |
| 15 | g.48446751G>C | CA392341192 | FBN1 | c.5743C>G (p.Arg1915Gly) n.4417C>G c.742C>G (p.Arg248Gly) c.*1506C>G (n.*1506C>G) c.1050C>G | |
| 15 | g.48446751G= | CA2175495064 | FBN1 | c.5743C= (p.Arg1915=) n.4417C= c.742C= (p.Arg248=) c.*1506C= (n.*1506C=) c.1050C= | |
| 15 | g.48446751G>T | CA392341194 | FBN1 | c.5743C>A (p.Arg1915Ser) n.4417C>A c.742C>A (p.Arg248Ser) c.*1506C>A (n.*1506C>A) c.1050C>A | ClinVar dbSNP |
| 15 | g.48446751_48446752insT | CA490022987 | FBN1 | c.5742_5743insA (p.Arg1915ThrfsTer13) n.4416_4417insA c.741_742insA (p.Arg248ThrfsTer13) c.*1505_*1506insA (n.*1505_*1506insA) c.1049_1050insA | |
| 15 | g.48446752G>A | CA490022986 | FBN1 | c.5742C>T (p.Cys1914=) n.4416C>T c.741C>T (p.Cys247=) c.*1505C>T (n.*1505C>T) c.1049C>T | |
| 15 | g.48446752G>C | CA392341196 | FBN1 | c.5742C>G (p.Cys1914Trp) n.4416C>G c.741C>G (p.Cys247Trp) c.*1505C>G (n.*1505C>G) c.1049C>G | |
| 15 | g.48446752G>T | CA392341198 | FBN1 | c.5742C>A (p.Cys1914Ter) n.4416C>A c.741C>A (p.Cys247Ter) c.*1505C>A (n.*1505C>A) c.1049C>A | |
| 15 | g.48446753C>A | CA392341200 | FBN1 | c.5741G>T (p.Cys1914Phe) n.4415G>T c.740G>T (p.Cys247Phe) c.*1504G>T (n.*1504G>T) c.1048G>T | ClinVar dbSNP |
| 15 | g.48446753C= | CA2175495075 | FBN1 | c.5741G= (p.Cys1914=) n.4415G= c.740G= (p.Cys247=) c.*1504G= (n.*1504G=) c.1048G= | |
| 15 | g.48446753C>G | CA392341201 | FBN1 | c.5741G>C (p.Cys1914Ser) n.4415G>C c.740G>C (p.Cys247Ser) c.*1504G>C (n.*1504G>C) c.1048G>C | |
| 15 | g.48446753C>T | CA392341202 | FBN1 | c.5741G>A (p.Cys1914Tyr) n.4415G>A c.740G>A (p.Cys247Tyr) c.*1504G>A (n.*1504G>A) c.1048G>A | ClinVar |
| 15 | g.48446754A>C | CA392341204 | FBN1 | c.5740T>G (p.Cys1914Gly) n.4414T>G c.739T>G (p.Cys247Gly) c.*1503T>G (n.*1503T>G) c.1047T>G | ClinVar dbSNP |
| 15 | g.48446754A>G | CA392341206 | FBN1 | c.5740T>C (p.Cys1914Arg) n.4414T>C c.739T>C (p.Cys247Arg) c.*1503T>C (n.*1503T>C) c.1047T>C | |
| 15 | g.48446754A>T | CA392341208 | FBN1 | c.5740T>A (p.Cys1914Ser) n.4414T>A c.739T>A (p.Cys247Ser) c.*1503T>A (n.*1503T>A) c.1047T>A | |
| 15 | g.48446754_48446769delinsTTCAACTG | CA2695220258 | FBN1 | c.5725_5740delinsCAGTTGAA (p.Ile1909GlnfsTer16) n.4399_4414delinsCAGTTGAA c.724_739delinsCAGTTGAA (p.Ile242GlnfsTer16) c.*1488_*1503delinsCAGTTGAA (n.*1488_*1503delinsCAGTTGAA) c.1032_1047delinsCAGTTGAA | |
| 15 | g.48446755G>A | CA055472 | FBN1 | c.5739C>T (p.Asn1913=) n.4413C>T c.738C>T (p.Asn246=) c.*1502C>T (n.*1502C>T) c.1046C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48446755G>C | CA392341210 | FBN1 | c.5739C>G (p.Asn1913Lys) n.4413C>G c.738C>G (p.Asn246Lys) c.*1502C>G (n.*1502C>G) c.1046C>G | |
| 15 | g.48446755G= | CA2175495082 | FBN1 | c.5739C= (p.Asn1913=) n.4413C= c.738C= (p.Asn246=) c.*1502C= (n.*1502C=) c.1046C= | |
| 15 | g.48446755G>T | CA392341209 | FBN1 | c.5739C>A (p.Asn1913Lys) n.4413C>A c.738C>A (p.Asn246Lys) c.*1502C>A (n.*1502C>A) c.1046C>A | |
| 15 | g.48446756T>A | CA392341213 | FBN1 | c.5738A>T (p.Asn1913Ile) n.4412A>T c.737A>T (p.Asn246Ile) c.*1501A>T (n.*1501A>T) c.1045A>T | |
| 15 | g.48446756T>C | CA055467 | FBN1 | c.5738A>G (p.Asn1913Ser) n.4412A>G c.737A>G (p.Asn246Ser) c.*1501A>G (n.*1501A>G) c.1045A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446756T>G | CA392341215 | FBN1 | c.5738A>C (p.Asn1913Thr) n.4412A>C c.737A>C (p.Asn246Thr) c.*1501A>C (n.*1501A>C) c.1045A>C | |
| 15 | g.48446756T= | CA2175495091 | FBN1 | c.5738A= (p.Asn1913=) n.4412A= c.737A= (p.Asn246=) c.*1501A= (n.*1501A=) c.1045A= | |
| 15 | g.48446757T>A | CA392341217 | FBN1 | c.5737A>T (p.Asn1913Tyr) n.4411A>T c.736A>T (p.Asn246Tyr) c.*1500A>T (n.*1500A>T) c.1044A>T | |
| 15 | g.48446757T>C | CA392341218 | FBN1 | c.5737A>G (p.Asn1913Asp) n.4411A>G c.736A>G (p.Asn246Asp) c.*1500A>G (n.*1500A>G) c.1044A>G | |
| 15 | g.48446757T>G | CA392341220 | FBN1 | c.5737A>C (p.Asn1913His) n.4411A>C c.736A>C (p.Asn246His) c.*1500A>C (n.*1500A>C) c.1044A>C | |
| 15 | g.48446758del | CA2695220260 | FBN1 | c.5736del (p.Phe1912LeufsTer18) n.4410del c.735del (p.Phe245LeufsTer18) c.*1499del (n.*1499del) c.1043del | |
| 15 | g.48446758G>A | CA490022988 | FBN1 | c.5736C>T (p.Phe1912=) n.4410C>T c.735C>T (p.Phe245=) c.*1499C>T (n.*1499C>T) c.1043C>T | |
| 15 | g.48446758G>C | CA392341224 | FBN1 | c.5736C>G (p.Phe1912Leu) n.4410C>G c.735C>G (p.Phe245Leu) c.*1499C>G (n.*1499C>G) c.1043C>G | ClinVar dbSNP |
| 15 | g.48446758G= | CA2175495095 | FBN1 | c.5736C= (p.Phe1912=) n.4410C= c.735C= (p.Phe245=) c.*1499C= (n.*1499C=) c.1043C= | |
| 15 | g.48446758G>T | CA392341223 | FBN1 | c.5736C>A (p.Phe1912Leu) n.4410C>A c.735C>A (p.Phe245Leu) c.*1499C>A (n.*1499C>A) c.1043C>A | |
| 15 | g.48446758_48446759delinsGA | CA2175495093 | FBN1 | c.5735_5736delinsTC (p.Phe1912=) n.4409_4410delinsTC c.734_735delinsTC (p.Phe245=) c.*1498_*1499delinsTC (n.*1498_*1499delinsTC) c.1042_1043delinsTC | |
| 15 | g.48446759_48446761del | CA916084365 | FBN1 | c.5734_5736del (p.Phe1912del) n.4408_4410del c.733_735del (p.Phe245del) c.*1497_*1499del (n.*1497_*1499del) c.1041_1043del | ClinVar |
| 15 | g.48446759A= | CA2175495103 | FBN1 | c.5735T= (p.Phe1912=) n.4409T= c.734T= (p.Phe245=) c.*1498T= (n.*1498T=) c.1042T= | |
| 15 | g.48446759A>C | CA392341226 | FBN1 | c.5735T>G (p.Phe1912Cys) n.4409T>G c.734T>G (p.Phe245Cys) c.*1498T>G (n.*1498T>G) c.1042T>G | ClinVar dbSNP |
| 15 | g.48446759A>G | CA392341229 | FBN1 | c.5735T>C (p.Phe1912Ser) n.4409T>C c.734T>C (p.Phe245Ser) c.*1498T>C (n.*1498T>C) c.1042T>C | ClinVar dbSNP |
| 15 | g.48446759A>T | CA392341231 | FBN1 | c.5735T>A (p.Phe1912Tyr) n.4409T>A c.734T>A (p.Phe245Tyr) c.*1498T>A (n.*1498T>A) c.1042T>A | |
| 15 | g.48446760del | CA16619950 | FBN1 | c.5735del (p.Phe1912SerfsTer18) n.4409del c.734del (p.Phe245SerfsTer18) c.*1498del (n.*1498del) c.1042del | ClinVar dbSNP |
| 15 | g.48446760A>C | CA392341233 | FBN1 | c.5734T>G (p.Phe1912Val) n.4408T>G c.733T>G (p.Phe245Val) c.*1497T>G (n.*1497T>G) c.1041T>G | |
| 15 | g.48446760A>G | CA392341234 | FBN1 | c.5734T>C (p.Phe1912Leu) n.4408T>C c.733T>C (p.Phe245Leu) c.*1497T>C (n.*1497T>C) c.1041T>C | ClinVar dbSNP |
| 15 | g.48446760A>T | CA392341236 | FBN1 | c.5734T>A (p.Phe1912Ile) n.4408T>A c.733T>A (p.Phe245Ile) c.*1497T>A (n.*1497T>A) c.1041T>A | |
| 15 | g.48446761G>A | CA490022991 | FBN1 | c.5733C>T (p.Ser1911=) n.4407C>T c.732C>T (p.Ser244=) c.*1496C>T (n.*1496C>T) c.1040C>T | |
| 15 | g.48446761G>C | CA490022989 | FBN1 | c.5733C>G (p.Ser1911=) n.4407C>G c.732C>G (p.Ser244=) c.*1496C>G (n.*1496C>G) c.1040C>G | |
| 15 | g.48446761G>T | CA490022990 | FBN1 | c.5733C>A (p.Ser1911=) n.4407C>A c.732C>A (p.Ser244=) c.*1496C>A (n.*1496C>A) c.1040C>A | |
| 15 | g.48446762G>A | CA392341238 | FBN1 | c.5732C>T (p.Ser1911Phe) n.4406C>T c.731C>T (p.Ser244Phe) c.*1495C>T (n.*1495C>T) c.1039C>T | COSMIC |
| 15 | g.48446762G>C | CA392341242 | FBN1 | c.5732C>G (p.Ser1911Cys) n.4406C>G c.731C>G (p.Ser244Cys) c.*1495C>G (n.*1495C>G) c.1039C>G | |
| 15 | g.48446762G>T | CA392341240 | FBN1 | c.5732C>A (p.Ser1911Tyr) n.4406C>A c.731C>A (p.Ser244Tyr) c.*1495C>A (n.*1495C>A) c.1039C>A | |
| 15 | g.48446763A>C | CA392341244 | FBN1 | c.5731T>G (p.Ser1911Ala) n.4405T>G c.730T>G (p.Ser244Ala) c.*1494T>G (n.*1494T>G) c.1038T>G | |
| 15 | g.48446763A>G | CA392341246 | FBN1 | c.5731T>C (p.Ser1911Pro) n.4405T>C c.730T>C (p.Ser244Pro) c.*1494T>C (n.*1494T>C) c.1038T>C | |
| 15 | g.48446763A>T | CA392341248 | FBN1 | c.5731T>A (p.Ser1911Thr) n.4405T>A c.730T>A (p.Ser244Thr) c.*1494T>A (n.*1494T>A) c.1038T>A | |
| 15 | g.48446764A>C | CA490022992 | FBN1 | c.5730T>G (p.Gly1910=) n.4404T>G c.729T>G (p.Gly243=) c.*1493T>G (n.*1493T>G) c.1037T>G | |
| 15 | g.48446764A>G | CA490022993 | FBN1 | c.5730T>C (p.Gly1910=) n.4404T>C c.729T>C (p.Gly243=) c.*1493T>C (n.*1493T>C) c.1037T>C | |
| 15 | g.48446764A>T | CA490022994 | FBN1 | c.5730T>A (p.Gly1910=) n.4404T>A c.729T>A (p.Gly243=) c.*1493T>A (n.*1493T>A) c.1037T>A | |
| 15 | g.48446765C>A | CA392341250 | FBN1 | c.5729G>T (p.Gly1910Val) n.4403G>T c.728G>T (p.Gly243Val) c.*1492G>T (n.*1492G>T) c.1036G>T | ClinVar |
| 15 | g.48446765C= | CA2175495113 | FBN1 | c.5729G= (p.Gly1910=) n.4403G= c.728G= (p.Gly243=) c.*1492G= (n.*1492G=) c.1036G= | |
| 15 | g.48446765C>G | CA392341251 | FBN1 | c.5729G>C (p.Gly1910Ala) n.4403G>C c.728G>C (p.Gly243Ala) c.*1492G>C (n.*1492G>C) c.1036G>C | |
| 15 | g.48446765C>T | CA392341252 | FBN1 | c.5729G>A (p.Gly1910Asp) n.4403G>A c.728G>A (p.Gly243Asp) c.*1492G>A (n.*1492G>A) c.1036G>A | ClinVar dbSNP |
| 15 | g.48446766C>A | CA392341254 | FBN1 | c.5728G>T (p.Gly1910Cys) n.4402G>T c.727G>T (p.Gly243Cys) c.*1491G>T (n.*1491G>T) c.1035G>T | ClinVar dbSNP |
| 15 | g.48446766C= | CA2175495121 | FBN1 | c.5728G= (p.Gly1910=) n.4402G= c.727G= (p.Gly243=) c.*1491G= (n.*1491G=) c.1035G= | |
| 15 | g.48446766C>G | CA392341256 | FBN1 | c.5728G>C (p.Gly1910Arg) n.4402G>C c.727G>C (p.Gly243Arg) c.*1491G>C (n.*1491G>C) c.1035G>C | |
| 15 | g.48446766C>T | CA392341258 | FBN1 | c.5728G>A (p.Gly1910Ser) n.4402G>A c.727G>A (p.Gly243Ser) c.*1491G>A (n.*1491G>A) c.1035G>A | |
| 15 | g.48446767A>C | CA392341260 | FBN1 | c.5727T>G (p.Ile1909Met) n.4401T>G c.726T>G (p.Ile242Met) c.*1490T>G (n.*1490T>G) c.1034T>G | |
| 15 | g.48446767A>G | CA490022995 | FBN1 | c.5727T>C (p.Ile1909=) n.4401T>C c.726T>C (p.Ile242=) c.*1490T>C (n.*1490T>C) c.1034T>C | |
| 15 | g.48446767A>T | CA490022996 | FBN1 | c.5727T>A (p.Ile1909=) n.4401T>A c.726T>A (p.Ile242=) c.*1490T>A (n.*1490T>A) c.1034T>A | |
| 15 | g.48446768A= | CA2175495127 | FBN1 | c.5726T= (p.Ile1909=) n.4400T= c.725T= (p.Ile242=) c.*1489T= (n.*1489T=) c.1033T= | |
| 15 | g.48446768A>C | CA392341263 | FBN1 | c.5726T>G (p.Ile1909Ser) n.4400T>G c.725T>G (p.Ile242Ser) c.*1489T>G (n.*1489T>G) c.1033T>G | |
| 15 | g.48446768A>G | CA016007 | FBN1 | c.5726T>C (p.Ile1909Thr) n.4400T>C c.725T>C (p.Ile242Thr) c.*1489T>C (n.*1489T>C) c.1033T>C | ClinVar dbSNP COSMIC |
| 15 | g.48446768A>T | CA392341264 | FBN1 | c.5726T>A (p.Ile1909Asn) n.4400T>A c.725T>A (p.Ile242Asn) c.*1489T>A (n.*1489T>A) c.1033T>A | |
| 15 | g.48446769T>A | CA392341268 | FBN1 | c.5725A>T (p.Ile1909Phe) n.4399A>T c.724A>T (p.Ile242Phe) c.*1488A>T (n.*1488A>T) c.1032A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446769T>C | CA269533742 | FBN1 | c.5725A>G (p.Ile1909Val) n.4399A>G c.724A>G (p.Ile242Val) c.*1488A>G (n.*1488A>G) c.1032A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446769T>G | CA10587810 | FBN1 | c.5725A>C (p.Ile1909Leu) n.4399A>C c.724A>C (p.Ile242Leu) c.*1488A>C (n.*1488A>C) c.1032A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446769T= | CA2175495137 | FBN1 | c.5725A= (p.Ile1909=) n.4399A= c.724A= (p.Ile242=) c.*1488A= (n.*1488A=) c.1032A= | |
| 15 | g.48446770T>A | CA490022997 | FBN1 | c.5724A>T (p.Thr1908=) n.4398A>T c.723A>T (p.Thr241=) c.*1487A>T (n.*1487A>T) c.1031A>T | |
| 15 | g.48446770T>C | CA055450 | FBN1 | c.5724A>G (p.Thr1908=) n.4398A>G c.723A>G (p.Thr241=) c.*1487A>G (n.*1487A>G) c.1031A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446770T>G | CA490022998 | FBN1 | c.5724A>C (p.Thr1908=) n.4398A>C c.723A>C (p.Thr241=) c.*1487A>C (n.*1487A>C) c.1031A>C | |
| 15 | g.48446770T= | CA2175495181 | FBN1 | c.5724A= (p.Thr1908=) n.4398A= c.723A= (p.Thr241=) c.*1487A= (n.*1487A=) c.1031A= | |
| 15 | g.48446771G>A | CA392341272 | FBN1 | c.5723C>T (p.Thr1908Ile) n.4397C>T c.722C>T (p.Thr241Ile) c.*1486C>T (n.*1486C>T) c.1030C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446771G>C | CA392341273 | FBN1 | c.5723C>G (p.Thr1908Arg) n.4397C>G c.722C>G (p.Thr241Arg) c.*1486C>G (n.*1486C>G) c.1030C>G | COSMIC |
| 15 | g.48446771G= | CA2175495195 | FBN1 | c.5723C= (p.Thr1908=) n.4397C= c.722C= (p.Thr241=) c.*1486C= (n.*1486C=) c.1030C= | |
| 15 | g.48446771G>T | CA392341275 | FBN1 | c.5723C>A (p.Thr1908Lys) n.4397C>A c.722C>A (p.Thr241Lys) c.*1486C>A (n.*1486C>A) c.1030C>A | |
| 15 | g.48446772del | CA2695220263 | FBN1 | c.5722del (p.Thr1908GlnfsTer22) n.4396del c.721del (p.Thr241GlnfsTer22) c.*1485del (n.*1485del) c.1029del | |
| 15 | g.48446772T>A | CA392341278 | FBN1 | c.5722A>T (p.Thr1908Ser) n.4396A>T c.721A>T (p.Thr241Ser) c.*1485A>T (n.*1485A>T) c.1029A>T | |
| 15 | g.48446772T>C | CA392341279 | FBN1 | c.5722A>G (p.Thr1908Ala) n.4396A>G c.721A>G (p.Thr241Ala) c.*1485A>G (n.*1485A>G) c.1029A>G | |
| 15 | g.48446772T>G | CA392341281 | FBN1 | c.5722A>C (p.Thr1908Pro) n.4396A>C c.721A>C (p.Thr241Pro) c.*1485A>C (n.*1485A>C) c.1029A>C | ClinVar dbSNP |
| 15 | g.48446772T= | CA2175495203 | FBN1 | c.5722A= (p.Thr1908=) n.4396A= c.721A= (p.Thr241=) c.*1485A= (n.*1485A=) c.1029A= | |
| 15 | g.48446773G>A | CA490022999 | FBN1 | c.5721C>T (p.Asn1907=) n.4395C>T c.720C>T (p.Asn240=) c.*1484C>T (n.*1484C>T) c.1028C>T | dbSNP |
| 15 | g.48446773G>C | CA015998 | FBN1 | c.5721C>G (p.Asn1907Lys) n.4395C>G c.720C>G (p.Asn240Lys) c.*1484C>G (n.*1484C>G) c.1028C>G | ClinVar dbSNP |
| 15 | g.48446773G= | CA2175495215 | FBN1 | c.5721C= (p.Asn1907=) n.4395C= c.720C= (p.Asn240=) c.*1484C= (n.*1484C=) c.1028C= | |
| 15 | g.48446773G>T | CA392341284 | FBN1 | c.5721C>A (p.Asn1907Lys) n.4395C>A c.720C>A (p.Asn240Lys) c.*1484C>A (n.*1484C>A) c.1028C>A | |
| 15 | g.48446773_48446774delinsGT | CA2175495226 | FBN1 | c.5720_5721delinsAC (p.Asn1907=) n.4394_4395delinsAC c.719_720delinsAC (p.Asn240=) c.*1483_*1484delinsAC (n.*1483_*1484delinsAC) c.1027_1028delinsAC | |
| 15 | g.48446774T>A | CA392341287 | FBN1 | c.5720A>T (p.Asn1907Ile) n.4394A>T c.719A>T (p.Asn240Ile) c.*1483A>T (n.*1483A>T) c.1027A>T | |
| 15 | g.48446774T>C | CA16614507 | FBN1 | c.5720A>G (p.Asn1907Ser) n.4394A>G c.719A>G (p.Asn240Ser) c.*1483A>G (n.*1483A>G) c.1027A>G | ClinVar dbSNP |
| 15 | g.48446774T>G | CA392341288 | FBN1 | c.5720A>C (p.Asn1907Thr) n.4394A>C c.719A>C (p.Asn240Thr) c.*1483A>C (n.*1483A>C) c.1027A>C | |
| 15 | g.48446774T= | CA2175495239 | FBN1 | c.5720A= (p.Asn1907=) n.4394A= c.719A= (p.Asn240=) c.*1483A= (n.*1483A=) c.1027A= | |
| 15 | g.48446775del | CA10587809 | FBN1 | c.5720del (p.Asn1907ThrfsTer23) n.4394del c.719del (p.Asn240ThrfsTer23) c.*1483del (n.*1483del) c.1027del | ClinVar dbSNP |
| 15 | g.48446775T>A | CA392341292 | FBN1 | c.5719A>T (p.Asn1907Tyr) n.4393A>T c.718A>T (p.Asn240Tyr) c.*1482A>T (n.*1482A>T) c.1026A>T | |
| 15 | g.48446775T>C | CA015987 | FBN1 | c.5719A>G (p.Asn1907Asp) n.4393A>G c.718A>G (p.Asn240Asp) c.*1482A>G (n.*1482A>G) c.1026A>G | ClinVar dbSNP |
| 15 | g.48446775T>G | CA392341290 | FBN1 | c.5719A>C (p.Asn1907His) n.4393A>C c.718A>C (p.Asn240His) c.*1482A>C (n.*1482A>C) c.1026A>C | |
| 15 | g.48446775T= | CA2175495250 | FBN1 | c.5719A= (p.Asn1907=) n.4393A= c.718A= (p.Asn240=) c.*1482A= (n.*1482A=) c.1026A= | |
| 15 | g.48446776C>A | CA490023000 | FBN1 | c.5718G>T (p.Arg1906=) n.4392G>T c.717G>T (p.Arg239=) c.*1481G>T (n.*1481G>T) c.1025G>T | |
| 15 | g.48446776C= | CA2175495252 | FBN1 | c.5718G= (p.Arg1906=) n.4392G= c.717G= (p.Arg239=) c.*1481G= (n.*1481G=) c.1025G= | |
| 15 | g.48446776C>G | CA490023001 | FBN1 | c.5718G>C (p.Arg1906=) n.4392G>C c.717G>C (p.Arg239=) c.*1481G>C (n.*1481G>C) c.1025G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.48446776C>T | CA490023002 | FBN1 | c.5718G>A (p.Arg1906=) n.4392G>A c.717G>A (p.Arg239=) c.*1481G>A (n.*1481G>A) c.1025G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446777del | CA2695220265 | FBN1 | c.5718del (p.Asn1907ThrfsTer23) n.4392del c.717del (p.Asn240ThrfsTer23) c.*1481del (n.*1481del) c.1025del | |
| 15 | g.48446777C>A | CA392341294 | FBN1 | c.5717G>T (p.Arg1906Leu) n.4391G>T c.716G>T (p.Arg239Leu) c.*1480G>T (n.*1480G>T) c.1024G>T | |
| 15 | g.48446777C= | CA2175495269 | FBN1 | c.5717G= (p.Arg1906=) n.4391G= c.716G= (p.Arg239=) c.*1480G= (n.*1480G=) c.1024G= | |
| 15 | g.48446777C>G | CA392341295 | FBN1 | c.5717G>C (p.Arg1906Pro) n.4391G>C c.716G>C (p.Arg239Pro) c.*1480G>C (n.*1480G>C) c.1024G>C | |
| 15 | g.48446777C>T | CA055444 | FBN1 | c.5717G>A (p.Arg1906Gln) n.4391G>A c.716G>A (p.Arg239Gln) c.*1480G>A (n.*1480G>A) c.1024G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48446778G>A | CA055439 | FBN1 | c.5716C>T (p.Arg1906Trp) n.4390C>T c.715C>T (p.Arg239Trp) c.*1479C>T (n.*1479C>T) c.1023C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446778G>C | CA392341300 | FBN1 | c.5716C>G (p.Arg1906Gly) n.4390C>G c.715C>G (p.Arg239Gly) c.*1479C>G (n.*1479C>G) c.1023C>G | ClinVar dbSNP |
| 15 | g.48446778G= | CA2175495273 | FBN1 | c.5716C= (p.Arg1906=) n.4390C= c.715C= (p.Arg239=) c.*1479C= (n.*1479C=) c.1023C= | |
| 15 | g.48446778G>T | CA490023003 | FBN1 | c.5716C>A (p.Arg1906=) n.4390C>A c.715C>A (p.Arg239=) c.*1479C>A (n.*1479C>A) c.1023C>A | |
| 15 | g.48446779del | CA2499222980 | FBN1 | c.5716del (p.Arg1906GlyfsTer24) n.4390del c.715del (p.Arg239GlyfsTer24) c.*1479del (n.*1479del) c.1023del | ClinVar dbSNP |