| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48483867G>A | CA490017038 | FBN1 | c.3789C>T (p.Cys1263=) n.2463C>T c.637-9217C>T (n.637-9217C>T) | |
| 15 | g.48483867G>C | CA16042964 | FBN1 | c.3789C>G (p.Cys1263Trp) n.2463C>G c.637-9217C>G (n.637-9217C>G) | ClinVar dbSNP |
| 15 | g.48483867G= | CA2175509494 | FBN1 | c.3789C= (p.Cys1263=) n.2463C= c.637-9217C= (n.637-9217C=) | |
| 15 | g.48483867G>T | CA392323823 | FBN1 | c.3789C>A (p.Cys1263Ter) n.2463C>A c.637-9217C>A (n.637-9217C>A) | |
| 15 | g.48483868C>A | CA392323827 | FBN1 | c.3788G>T (p.Cys1263Phe) n.2462G>T c.637-9218G>T (n.637-9218G>T) | ClinVar gnomAD v4 |
| 15 | g.48483868C>G | CA392323829 | FBN1 | c.3788G>C (p.Cys1263Ser) n.2462G>C c.637-9218G>C (n.637-9218G>C) | |
| 15 | g.48483868C>T | CA392323831 | FBN1 | c.3788G>A (p.Cys1263Tyr) n.2462G>A c.637-9218G>A (n.637-9218G>A) | |
| 15 | g.48483869_48483870dup | CA2695220664 | FBN1 | c.3787_3788dup (p.Leu1264AlafsTer13) n.2461_2462dup c.637-9219_637-9218dup (n.637-9219_637-9218dup) | |
| 15 | g.48483869A>C | CA392323834 | FBN1 | c.3787T>G (p.Cys1263Gly) n.2461T>G c.637-9219T>G (n.637-9219T>G) | |
| 15 | g.48483869A>G | CA392323836 | FBN1 | c.3787T>C (p.Cys1263Arg) n.2461T>C c.637-9219T>C (n.637-9219T>C) | |
| 15 | g.48483869A>T | CA392323838 | FBN1 | c.3787T>A (p.Cys1263Ser) n.2461T>A c.637-9219T>A (n.637-9219T>A) | |
| 15 | g.48483870C>A | CA392323843 | FBN1 | c.3786G>T (p.Arg1262Ser) n.2460G>T c.637-9220G>T (n.637-9220G>T) | ClinVar dbSNP |
| 15 | g.48483870C= | CA2175509507 | FBN1 | c.3786G= (p.Arg1262=) n.2460G= c.637-9220G= (n.637-9220G=) | |
| 15 | g.48483870C>G | CA392323840 | FBN1 | c.3786G>C (p.Arg1262Ser) n.2460G>C c.637-9220G>C (n.637-9220G>C) | |
| 15 | g.48483870C>T | CA490017055 | FBN1 | c.3786G>A (p.Arg1262=) n.2460G>A c.637-9220G>A (n.637-9220G>A) | ClinVar dbSNP |
| 15 | g.48483871C>A | CA392323845 | FBN1 | c.3785G>T (p.Arg1262Met) n.2459G>T c.637-9221G>T (n.637-9221G>T) | |
| 15 | g.48483871C= | CA2175509516 | FBN1 | c.3785G= (p.Arg1262=) n.2459G= c.637-9221G= (n.637-9221G=) | |
| 15 | g.48483871C>G | CA392323848 | FBN1 | c.3785G>C (p.Arg1262Thr) n.2459G>C c.637-9221G>C (n.637-9221G>C) | |
| 15 | g.48483871C>T | CA051513 | FBN1 | c.3785G>A (p.Arg1262Lys) n.2459G>A c.637-9221G>A (n.637-9221G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483872T>A | CA392323851 | FBN1 | c.3784A>T (p.Arg1262Trp) n.2458A>T c.637-9222A>T (n.637-9222A>T) | |
| 15 | g.48483872T>C | CA392323853 | FBN1 | c.3784A>G (p.Arg1262Gly) n.2458A>G c.637-9222A>G (n.637-9222A>G) | |
| 15 | g.48483872T>G | CA490017061 | FBN1 | c.3784A>C (p.Arg1262=) n.2458A>C c.637-9222A>C (n.637-9222A>C) | |
| 15 | g.48483872_48483873delinsTG | CA2175509523 | FBN1 | c.3783_3784delinsCA (p.Tyr1261=) n.2457_2458delinsCA c.637-9223_637-9222delinsCA (n.637-9223_637-9222delinsCA) | |
| 15 | g.48483873del | CA658824435 | FBN1 | c.3783del (p.Tyr1261Ter) n.2457del c.637-9223del (n.637-9223del) | ClinVar dbSNP |
| 15 | g.48483873G>A | CA490017063 | FBN1 | c.3783C>T (p.Tyr1261=) n.2457C>T c.637-9223C>T (n.637-9223C>T) | gnomAD v4 |
| 15 | g.48483873G>C | CA392323856 | FBN1 | c.3783C>G (p.Tyr1261Ter) n.2457C>G c.637-9223C>G (n.637-9223C>G) | |
| 15 | g.48483873G>T | CA392323858 | FBN1 | c.3783C>A (p.Tyr1261Ter) n.2457C>A c.637-9223C>A (n.637-9223C>A) | |
| 15 | g.48483874T>A | CA392323861 | FBN1 | c.3782A>T (p.Tyr1261Phe) n.2456A>T c.637-9224A>T (n.637-9224A>T) | |
| 15 | g.48483874T>C | CA392323863 | FBN1 | c.3782A>G (p.Tyr1261Cys) n.2456A>G c.637-9224A>G (n.637-9224A>G) | |
| 15 | g.48483874T>G | CA392323864 | FBN1 | c.3782A>C (p.Tyr1261Ser) n.2456A>C c.637-9224A>C (n.637-9224A>C) | |
| 15 | g.48483875A>C | CA392323867 | FBN1 | c.3781T>G (p.Tyr1261Asp) n.2455T>G c.637-9225T>G (n.637-9225T>G) | |
| 15 | g.48483875A>G | CA392323868 | FBN1 | c.3781T>C (p.Tyr1261His) n.2455T>C c.637-9225T>C (n.637-9225T>C) | |
| 15 | g.48483875A>T | CA392323872 | FBN1 | c.3781T>A (p.Tyr1261Asn) n.2455T>A c.637-9225T>A (n.637-9225T>A) | |
| 15 | g.48483876C>A | CA392323875 | FBN1 | c.3780G>T (p.Glu1260Asp) n.2454G>T c.637-9226G>T (n.637-9226G>T) | |
| 15 | g.48483876C= | CA2175509537 | FBN1 | c.3780G= (p.Glu1260=) n.2454G= c.637-9226G= (n.637-9226G=) | |
| 15 | g.48483876C>G | CA392323877 | FBN1 | c.3780G>C (p.Glu1260Asp) n.2454G>C c.637-9226G>C (n.637-9226G>C) | |
| 15 | g.48483876C>T | CA490017068 | FBN1 | c.3780G>A (p.Glu1260=) n.2454G>A c.637-9226G>A (n.637-9226G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48483877T>A | CA392323880 | FBN1 | c.3779A>T (p.Glu1260Val) n.2453A>T c.637-9227A>T (n.637-9227A>T) | |
| 15 | g.48483877T>C | CA392323882 | FBN1 | c.3779A>G (p.Glu1260Gly) n.2453A>G c.637-9227A>G (n.637-9227A>G) | dbSNP |
| 15 | g.48483877T>G | CA392323884 | FBN1 | c.3779A>C (p.Glu1260Ala) n.2453A>C c.637-9227A>C (n.637-9227A>C) | |
| 15 | g.48483877T= | CA2175509543 | FBN1 | c.3779A= (p.Glu1260=) n.2453A= c.637-9227A= (n.637-9227A=) | |
| 15 | g.48483878C>A | CA392323887 | FBN1 | c.3778G>T (p.Glu1260Ter) n.2452G>T c.637-9228G>T (n.637-9228G>T) | ClinVar dbSNP |
| 15 | g.48483878C= | CA2175509549 | FBN1 | c.3778G= (p.Glu1260=) n.2452G= c.637-9228G= (n.637-9228G=) | |
| 15 | g.48483878C>G | CA392323889 | FBN1 | c.3778G>C (p.Glu1260Gln) n.2452G>C c.637-9228G>C (n.637-9228G>C) | |
| 15 | g.48483878C>T | CA392323891 | FBN1 | c.3778G>A (p.Glu1260Lys) n.2452G>A c.637-9228G>A (n.637-9228G>A) | |
| 15 | g.48483879T>A | CA490017075 | FBN1 | c.3777A>T (p.Gly1259=) n.2451A>T c.637-9229A>T (n.637-9229A>T) | |
| 15 | g.48483879T>C | CA490017076 | FBN1 | c.3777A>G (p.Gly1259=) n.2451A>G c.637-9229A>G (n.637-9229A>G) | gnomAD v4 |
| 15 | g.48483879T>G | CA490017079 | FBN1 | c.3777A>C (p.Gly1259=) n.2451A>C c.637-9229A>C (n.637-9229A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48483879T= | CA2175509553 | FBN1 | c.3777A= (p.Gly1259=) n.2451A= c.637-9229A= (n.637-9229A=) | |
| 15 | g.48483880C>A | CA392323893 | FBN1 | c.3776G>T (p.Gly1259Val) n.2450G>T c.637-9230G>T (n.637-9230G>T) |