Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48520734_48520806del | CA2695220334 | FBN1 | c.1001_1073del (p.Gly334AlafsTer?) c.636+16906_636+16978del (n.636+16906_636+16978del) | |
15 | g.48520773_48520809delinsAGCGCCCGTTTGTCAGAGCTGTGTAACAGTATCCTGG | CA2175537689 | FBN1 | c.997_1033delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT (p.Pro333=) c.636+16902_636+16938delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT (n.636+16902_636+16938delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT) | |
15 | g.48520777_48520812del | CA916082424 | FBN1 | c.997_1032del (p.Pro333_Arg344del) c.636+16902_636+16937del (n.636+16902_636+16937del) | ClinVar dbSNP |
15 | g.48520795G>A | CA490028544 | FBN1 | c.1011C>T (p.Tyr337=) c.636+16916C>T (n.636+16916C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48520795G>C | CA392347888 | FBN1 | c.1011C>G (p.Tyr337Ter) c.636+16916C>G (n.636+16916C>G) | |
15 | g.48520795G= | CA2175537764 | FBN1 | c.1011C= (p.Tyr337=) c.636+16916C= (n.636+16916C=) | |
15 | g.48520795G>T | CA16607110 | FBN1 | c.1011C>A (p.Tyr337Ter) c.636+16916C>A (n.636+16916C>A) | ClinVar dbSNP |
15 | g.48520796T>A | CA392347889 | FBN1 | c.1010A>T (p.Tyr337Phe) c.636+16915A>T (n.636+16915A>T) | |
15 | g.48520796T>C | CA392347890 | FBN1 | c.1010A>G (p.Tyr337Cys) c.636+16915A>G (n.636+16915A>G) | |
15 | g.48520796T>G | CA392347891 | FBN1 | c.1010A>C (p.Tyr337Ser) c.636+16915A>C (n.636+16915A>C) | |
15 | g.48520796dup | CA891844031 | FBN1 | c.1010dup (p.Tyr337Ter) c.636+16915dup (n.636+16915dup) | ClinVar dbSNP |
15 | g.48520797A>C | CA392347893 | FBN1 | c.1009T>G (p.Tyr337Asp) c.636+16914T>G (n.636+16914T>G) | |
15 | g.48520797A>G | CA392347894 | FBN1 | c.1009T>C (p.Tyr337His) c.636+16914T>C (n.636+16914T>C) | |
15 | g.48520797A>T | CA392347892 | FBN1 | c.1009T>A (p.Tyr337Asn) c.636+16914T>A (n.636+16914T>A) | |
15 | g.48520798A>C | CA392347896 | FBN1 | c.1008T>G (p.Cys336Trp) c.636+16913T>G (n.636+16913T>G) | |
15 | g.48520798A>G | CA490028545 | FBN1 | c.1008T>C (p.Cys336=) c.636+16913T>C (n.636+16913T>C) | |
15 | g.48520798A>T | CA392347895 | FBN1 | c.1008T>A (p.Cys336Ter) c.636+16913T>A (n.636+16913T>A) | |
15 | g.48520799C>A | CA392347899 | FBN1 | c.1007G>T (p.Cys336Phe) c.636+16912G>T (n.636+16912G>T) | |
15 | g.48520799C>G | CA392347897 | FBN1 | c.1007G>C (p.Cys336Ser) c.636+16912G>C (n.636+16912G>C) | |
15 | g.48520799C>T | CA392347898 | FBN1 | c.1007G>A (p.Cys336Tyr) c.636+16912G>A (n.636+16912G>A) | ClinVar dbSNP |
15 | g.48520800A= | CA2175537780 | FBN1 | c.1006T= (p.Cys336=) c.636+16911T= (n.636+16911T=) | |
15 | g.48520800A>C | CA392347900 | FBN1 | c.1006T>G (p.Cys336Gly) c.636+16911T>G (n.636+16911T>G) | ClinVar dbSNP |
15 | g.48520800A>G | CA392347901 | FBN1 | c.1006T>C (p.Cys336Arg) c.636+16911T>C (n.636+16911T>C) | ClinVar dbSNP gnomAD v4 |
15 | g.48520800A>T | CA392347902 | FBN1 | c.1006T>A (p.Cys336Ser) c.636+16911T>A (n.636+16911T>A) | |
15 | g.48520801G>A | CA490028546 | FBN1 | c.1005C>T (p.Tyr335=) c.636+16910C>T (n.636+16910C>T) | |
15 | g.48520801G>C | CA392347903 | FBN1 | c.1005C>G (p.Tyr335Ter) c.636+16910C>G (n.636+16910C>G) | |
15 | g.48520801G>T | CA392347904 | FBN1 | c.1005C>A (p.Tyr335Ter) c.636+16910C>A (n.636+16910C>A) | |
15 | g.48520802T>A | CA392347905 | FBN1 | c.1004A>T (p.Tyr335Phe) c.636+16909A>T (n.636+16909A>T) | |
15 | g.48520802T>C | CA043325 | FBN1 | c.1004A>G (p.Tyr335Cys) c.636+16909A>G (n.636+16909A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48520802T>G | CA392347906 | FBN1 | c.1004A>C (p.Tyr335Ser) c.636+16909A>C (n.636+16909A>C) | |
15 | g.48520802T= | CA2175537785 | FBN1 | c.1004A= (p.Tyr335=) c.636+16909A= (n.636+16909A=) | |
15 | g.48520803_48520804del | CA2573150790 | FBN1 | c.1003_1004del (p.Tyr335LeufsTer12) c.636+16908_636+16909del (n.636+16908_636+16909del) | ClinVar dbSNP |
15 | g.48520803A>C | CA392347907 | FBN1 | c.1003T>G (p.Tyr335Asp) c.636+16908T>G (n.636+16908T>G) | |
15 | g.48520803A>G | CA392347908 | FBN1 | c.1003T>C (p.Tyr335His) c.636+16908T>C (n.636+16908T>C) | |
15 | g.48520803A>T | CA392347909 | FBN1 | c.1003T>A (p.Tyr335Asn) c.636+16908T>A (n.636+16908T>A) | |
15 | g.48520804T>A | CA269562575 | FBN1 | c.1002A>T (p.Gly334=) c.636+16907A>T (n.636+16907A>T) | dbSNP |
15 | g.48520804T>C | CA490028547 | FBN1 | c.1002A>G (p.Gly334=) c.636+16907A>G (n.636+16907A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48520804T>G | CA490028548 | FBN1 | c.1002A>C (p.Gly334=) c.636+16907A>C (n.636+16907A>C) | |
15 | g.48520804T= | CA2175537790 | FBN1 | c.1002A= (p.Gly334=) c.636+16907A= (n.636+16907A=) | |
15 | g.48520805C>A | CA392347910 | FBN1 | c.1001G>T (p.Gly334Val) c.636+16906G>T (n.636+16906G>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48520805C= | CA2175537795 | FBN1 | c.1001G= (p.Gly334=) c.636+16906G= (n.636+16906G=) | |
15 | g.48520805C>G | CA392347912 | FBN1 | c.1001G>C (p.Gly334Ala) c.636+16906G>C (n.636+16906G>C) | |
15 | g.48520805C>T | CA392347911 | FBN1 | c.1001G>A (p.Gly334Glu) c.636+16906G>A (n.636+16906G>A) | |
15 | g.48520806C>A | CA392347913 | FBN1 | c.1000G>T (p.Gly334Ter) c.636+16905G>T (n.636+16905G>T) | |
15 | g.48520806C>G | CA392347914 | FBN1 | c.1000G>C (p.Gly334Arg) c.636+16905G>C (n.636+16905G>C) | |
15 | g.48520806C>T | CA392347915 | FBN1 | c.1000G>A (p.Gly334Arg) c.636+16905G>A (n.636+16905G>A) | |
15 | g.48520807T>A | CA490028549 | FBN1 | c.999A>T (p.Pro333=) c.636+16904A>T (n.636+16904A>T) | |
15 | g.48520807T>C | CA490028550 | FBN1 | c.999A>G (p.Pro333=) c.636+16904A>G (n.636+16904A>G) | |
15 | g.48520807T>G | CA269562576 | FBN1 | c.999A>C (p.Pro333=) c.636+16904A>C (n.636+16904A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48520807T= | CA2175537799 | FBN1 | c.999A= (p.Pro333=) c.636+16904A= (n.636+16904A=) |