Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48487155C>A | CA392325200 | FBN1 | c.3509G>T (p.Arg1170Leu) n.2183G>T c.637-12505G>T (n.637-12505G>T) | |
15 | g.48487155C= | CA2175514078 | FBN1 | c.3509G= (p.Arg1170=) n.2183G= c.637-12505G= (n.637-12505G=) | |
15 | g.48487155C>G | CA392325198 | FBN1 | c.3509G>C (p.Arg1170Pro) n.2183G>C c.637-12505G>C (n.637-12505G>C) | |
15 | g.48487155C>T | CA014215 | FBN1 | c.3509G>A (p.Arg1170His) n.2183G>A c.637-12505G>A (n.637-12505G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48487156G>A | CA392325203 | FBN1 | c.3508C>T (p.Arg1170Cys) n.2182C>T c.637-12506C>T (n.637-12506C>T) | ClinVar dbSNP gnomAD v4 |
15 | g.48487156G>C | CA392325205 | FBN1 | c.3508C>G (p.Arg1170Gly) n.2182C>G c.637-12506C>G (n.637-12506C>G) | gnomAD v4 |
15 | g.48487156G= | CA2175514085 | FBN1 | c.3508C= (p.Arg1170=) n.2182C= c.637-12506C= (n.637-12506C=) | |
15 | g.48487156G>T | CA392325207 | FBN1 | c.3508C>A (p.Arg1170Ser) n.2182C>A c.637-12506C>A (n.637-12506C>A) | |
15 | g.48487157del | CA2573054039 | FBN1 | c.3508del (p.Arg1170ValfsTer3) n.2182del c.637-12506del (n.637-12506del) | ClinVar dbSNP |
15 | g.48487157G>A | CA490017978 | FBN1 | c.3507C>T (p.Gly1169=) n.2181C>T c.637-12507C>T (n.637-12507C>T) | ClinVar dbSNP |
15 | g.48487157G>C | CA490017977 | FBN1 | c.3507C>G (p.Gly1169=) n.2181C>G c.637-12507C>G (n.637-12507C>G) | |
15 | g.48487157G= | CA2175514090 | FBN1 | c.3507C= (p.Gly1169=) n.2181C= c.637-12507C= (n.637-12507C=) | |
15 | g.48487157G>T | CA490017976 | FBN1 | c.3507C>A (p.Gly1169=) n.2181C>A c.637-12507C>A (n.637-12507C>A) | |
15 | g.48487158C>A | CA014204 | FBN1 | c.3506G>T (p.Gly1169Val) n.2180G>T c.637-12508G>T (n.637-12508G>T) | ClinVar dbSNP |
15 | g.48487158C= | CA2175514095 | FBN1 | c.3506G= (p.Gly1169=) n.2180G= c.637-12508G= (n.637-12508G=) | |
15 | g.48487158C>G | CA392325210 | FBN1 | c.3506G>C (p.Gly1169Ala) n.2180G>C c.637-12508G>C (n.637-12508G>C) | |
15 | g.48487158C>T | CA16614519 | FBN1 | c.3506G>A (p.Gly1169Asp) n.2180G>A c.637-12508G>A (n.637-12508G>A) | ClinVar dbSNP |
15 | g.48487159dup | CA2573332582 | FBN1 | c.3506dup (p.Arg1170ProfsTer23) n.2180dup c.637-12508dup (n.637-12508dup) | |
15 | g.48487159C>A | CA392325213 | FBN1 | c.3505G>T (p.Gly1169Cys) n.2179G>T c.637-12509G>T (n.637-12509G>T) | |
15 | g.48487159C>G | CA392325215 | FBN1 | c.3505G>C (p.Gly1169Arg) n.2179G>C c.637-12509G>C (n.637-12509G>C) | ClinVar |
15 | g.48487159C>T | CA392325217 | FBN1 | c.3505G>A (p.Gly1169Ser) n.2179G>A c.637-12509G>A (n.637-12509G>A) | |
15 | g.48487160A= | CA2175514107 | FBN1 | c.3504T= (p.Asn1168=) n.2178T= c.637-12510T= (n.637-12510T=) | |
15 | g.48487160A>C | CA392325219 | FBN1 | c.3504T>G (p.Asn1168Lys) n.2178T>G c.637-12510T>G (n.637-12510T>G) | |
15 | g.48487160A>G | CA050975 | FBN1 | c.3504T>C (p.Asn1168=) n.2178T>C c.637-12510T>C (n.637-12510T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48487160A>T | CA392325222 | FBN1 | c.3504T>A (p.Asn1168Lys) n.2178T>A c.637-12510T>A (n.637-12510T>A) | |
15 | g.48487161T>A | CA392325227 | FBN1 | c.3503A>T (p.Asn1168Ile) n.2177A>T c.637-12511A>T (n.637-12511A>T) | ClinVar |
15 | g.48487161T>C | CA050971 | FBN1 | c.3503A>G (p.Asn1168Ser) n.2177A>G c.637-12511A>G (n.637-12511A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48487161T>G | CA392325225 | FBN1 | c.3503A>C (p.Asn1168Thr) n.2177A>C c.637-12511A>C (n.637-12511A>C) | |
15 | g.48487161T= | CA2175514116 | FBN1 | c.3503A= (p.Asn1168=) n.2177A= c.637-12511A= (n.637-12511A=) | |
15 | g.48487162T>A | CA392325232 | FBN1 | c.3502A>T (p.Asn1168Tyr) n.2176A>T c.637-12512A>T (n.637-12512A>T) | |
15 | g.48487162T>C | CA392325229 | FBN1 | c.3502A>G (p.Asn1168Asp) n.2176A>G c.637-12512A>G (n.637-12512A>G) | |
15 | g.48487162T>G | CA392325231 | FBN1 | c.3502A>C (p.Asn1168His) n.2176A>C c.637-12512A>C (n.637-12512A>C) | |
15 | g.48487163G>A | CA490017983 | FBN1 | c.3501C>T (p.Pro1167=) n.2175C>T c.637-12513C>T (n.637-12513C>T) | dbSNP gnomAD v2 |
15 | g.48487163G>C | CA490017984 | FBN1 | c.3501C>G (p.Pro1167=) n.2175C>G c.637-12513C>G (n.637-12513C>G) | |
15 | g.48487163G= | CA2175514122 | FBN1 | c.3501C= (p.Pro1167=) n.2175C= c.637-12513C= (n.637-12513C=) | |
15 | g.48487163G>T | CA490017985 | FBN1 | c.3501C>A (p.Pro1167=) n.2175C>A c.637-12513C>A (n.637-12513C>A) | |
15 | g.48487164G>A | CA392325235 | FBN1 | c.3500C>T (p.Pro1167Leu) n.2174C>T c.637-12514C>T (n.637-12514C>T) | |
15 | g.48487164G>C | CA392325236 | FBN1 | c.3500C>G (p.Pro1167Arg) n.2174C>G c.637-12514C>G (n.637-12514C>G) | |
15 | g.48487164G>T | CA392325238 | FBN1 | c.3500C>A (p.Pro1167His) n.2174C>A c.637-12514C>A (n.637-12514C>A) | |
15 | g.48487165G>A | CA392325240 | FBN1 | c.3499C>T (p.Pro1167Ser) n.2173C>T c.637-12515C>T (n.637-12515C>T) | gnomAD v4 |
15 | g.48487165G>C | CA392325242 | FBN1 | c.3499C>G (p.Pro1167Ala) n.2173C>G c.637-12515C>G (n.637-12515C>G) | |
15 | g.48487165G>T | CA392325244 | FBN1 | c.3499C>A (p.Pro1167Thr) n.2173C>A c.637-12515C>A (n.637-12515C>A) | |
15 | g.48487166G>A | CA490017987 | FBN1 | c.3498C>T (p.Cys1166=) n.2172C>T c.637-12516C>T (n.637-12516C>T) | |
15 | g.48487166G>C | CA392325247 | FBN1 | c.3498C>G (p.Cys1166Trp) n.2172C>G c.637-12516C>G (n.637-12516C>G) | |
15 | g.48487166G>T | CA392325249 | FBN1 | c.3498C>A (p.Cys1166Ter) n.2172C>A c.637-12516C>A (n.637-12516C>A) | ClinVar |
15 | g.48487167C>A | CA392325251 | FBN1 | c.3497G>T (p.Cys1166Phe) n.2171G>T c.637-12517G>T (n.637-12517G>T) | |
15 | g.48487167C= | CA2175514129 | FBN1 | c.3497G= (p.Cys1166=) n.2171G= c.637-12517G= (n.637-12517G=) | |
15 | g.48487167C>G | CA392325253 | FBN1 | c.3497G>C (p.Cys1166Ser) n.2171G>C c.637-12517G>C (n.637-12517G>C) | |
15 | g.48487167C>T | CA392325255 | FBN1 | c.3497G>A (p.Cys1166Tyr) n.2171G>A c.637-12517G>A (n.637-12517G>A) | ClinVar dbSNP |
15 | g.48487168A= | CA2175514138 | FBN1 | c.3496T= (p.Cys1166=) n.2170T= c.637-12518T= (n.637-12518T=) |