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.48445475_48445476delinsTC | CA2175492780 | FBN1 | c.5817_5818delinsGA (p.Gly1939=) n.4491_4492delinsGA c.816_817delinsGA (p.Gly272=) c.*1580_*1581delinsGA (n.*1580_*1581delinsGA) c.1124_1125delinsGA | |
| 15 | g.48445476C>A | CA490022679 | FBN1 | c.5817G>T (p.Gly1939=) n.4491G>T c.816G>T (p.Gly272=) c.*1580G>T (n.*1580G>T) c.1124G>T | |
| 15 | g.48445476C= | CA2175492792 | FBN1 | c.5817G= (p.Gly1939=) n.4491G= c.816G= (p.Gly272=) c.*1580G= (n.*1580G=) c.1124G= | |
| 15 | g.48445476C>G | CA269532868 | FBN1 | c.5817G>C (p.Gly1939=) n.4491G>C c.816G>C (p.Gly272=) c.*1580G>C (n.*1580G>C) c.1124G>C | dbSNP gnomAD v4 |
| 15 | g.48445476C>T | CA055731 | FBN1 | c.5817G>A (p.Gly1939=) n.4491G>A c.816G>A (p.Gly272=) c.*1580G>A (n.*1580G>A) c.1124G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445478del | CA016091 | FBN1 | c.5817del (p.Asn1940IlefsTer?) n.4491del c.816del (p.Asn273IlefsTer?) c.*1580del (n.*1580del) c.1124del | ClinVar dbSNP |
| 15 | g.48445477C>A | CA392340160 | FBN1 | c.5816G>T (p.Gly1939Val) n.4490G>T c.815G>T (p.Gly272Val) c.*1579G>T (n.*1579G>T) c.1123G>T | |
| 15 | g.48445477C= | CA2175492799 | FBN1 | c.5816G= (p.Gly1939=) n.4490G= c.815G= (p.Gly272=) c.*1579G= (n.*1579G=) c.1123G= | |
| 15 | g.48445477C>G | CA392340163 | FBN1 | c.5816G>C (p.Gly1939Ala) n.4490G>C c.815G>C (p.Gly272Ala) c.*1579G>C (n.*1579G>C) c.1123G>C | dbSNP |
| 15 | g.48445477C>T | CA055723 | FBN1 | c.5816G>A (p.Gly1939Glu) n.4490G>A c.815G>A (p.Gly272Glu) c.*1579G>A (n.*1579G>A) c.1123G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445478C>A | CA392340165 | FBN1 | c.5815G>T (p.Gly1939Trp) n.4489G>T c.814G>T (p.Gly272Trp) c.*1578G>T (n.*1578G>T) c.1122G>T | |
| 15 | g.48445478C>G | CA392340166 | FBN1 | c.5815G>C (p.Gly1939Arg) n.4489G>C c.814G>C (p.Gly272Arg) c.*1578G>C (n.*1578G>C) c.1122G>C | COSMIC |
| 15 | g.48445478C>T | CA392340168 | FBN1 | c.5815G>A (p.Gly1939Arg) n.4489G>A c.814G>A (p.Gly272Arg) c.*1578G>A (n.*1578G>A) c.1122G>A | gnomAD v4 |
| 15 | g.48445479A>C | CA392340171 | FBN1 | c.5814T>G (p.Asn1938Lys) n.4488T>G c.813T>G (p.Asn271Lys) c.*1577T>G (n.*1577T>G) c.1121T>G | |
| 15 | g.48445479A>G | CA490022689 | FBN1 | c.5814T>C (p.Asn1938=) n.4488T>C c.813T>C (p.Asn271=) c.*1577T>C (n.*1577T>C) c.1121T>C | |
| 15 | g.48445479A>T | CA392340172 | FBN1 | c.5814T>A (p.Asn1938Lys) n.4488T>A c.813T>A (p.Asn271Lys) c.*1577T>A (n.*1577T>A) c.1121T>A | |
| 15 | g.48445479_48445480delinsAT | CA2175492805 | FBN1 | c.5813_5814delinsAT (p.Asn1938=) n.4487_4488delinsAT c.812_813delinsAT (p.Asn271=) c.*1576_*1577delinsAT (n.*1576_*1577delinsAT) c.1120_1121delinsAT | |
| 15 | g.48445480T>A | CA392340175 | FBN1 | c.5813A>T (p.Asn1938Ile) n.4487A>T c.812A>T (p.Asn271Ile) c.*1576A>T (n.*1576A>T) c.1120A>T | |
| 15 | g.48445480T>C | CA392340180 | FBN1 | c.5813A>G (p.Asn1938Ser) n.4487A>G c.812A>G (p.Asn271Ser) c.*1576A>G (n.*1576A>G) c.1120A>G | |
| 15 | g.48445480T>G | CA392340178 | FBN1 | c.5813A>C (p.Asn1938Thr) n.4487A>C c.812A>C (p.Asn271Thr) c.*1576A>C (n.*1576A>C) c.1120A>C | |
| 15 | g.48445482del | CA055708 | FBN1 | c.5813del (p.Asn1938MetfsTer?) n.4487del c.812del (p.Asn271MetfsTer?) c.*1576del (n.*1576del) c.1120del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445481T>A | CA392340182 | FBN1 | c.5812A>T (p.Asn1938Tyr) n.4486A>T c.811A>T (p.Asn271Tyr) c.*1575A>T (n.*1575A>T) c.1119A>T | |
| 15 | g.48445481T>C | CA392340184 | FBN1 | c.5812A>G (p.Asn1938Asp) n.4486A>G c.811A>G (p.Asn271Asp) c.*1575A>G (n.*1575A>G) c.1119A>G | |
| 15 | g.48445481T>G | CA392340185 | FBN1 | c.5812A>C (p.Asn1938His) n.4486A>C c.811A>C (p.Asn271His) c.*1575A>C (n.*1575A>C) c.1119A>C | |
| 15 | g.48445482T>A | CA490022713 | FBN1 | c.5811A>T (p.Gly1937=) n.4485A>T c.810A>T (p.Gly270=) c.*1574A>T (n.*1574A>T) c.1118A>T | |
| 15 | g.48445482T>C | CA490022708 | FBN1 | c.5811A>G (p.Gly1937=) n.4485A>G c.810A>G (p.Gly270=) c.*1574A>G (n.*1574A>G) c.1118A>G | |
| 15 | g.48445482T>G | CA490022706 | FBN1 | c.5811A>C (p.Gly1937=) n.4485A>C c.810A>C (p.Gly270=) c.*1574A>C (n.*1574A>C) c.1118A>C | |
| 15 | g.48445483C>A | CA392340187 | FBN1 | c.5810G>T (p.Gly1937Val) n.4484G>T c.809G>T (p.Gly270Val) c.*1573G>T (n.*1573G>T) c.1117G>T | |
| 15 | g.48445483C= | CA2175492811 | FBN1 | c.5810G= (p.Gly1937=) n.4484G= c.809G= (p.Gly270=) c.*1573G= (n.*1573G=) c.1117G= | |
| 15 | g.48445483C>G | CA392340189 | FBN1 | c.5810G>C (p.Gly1937Ala) n.4484G>C c.809G>C (p.Gly270Ala) c.*1573G>C (n.*1573G>C) c.1117G>C | ClinVar dbSNP |
| 15 | g.48445483C>T | CA392340190 | FBN1 | c.5810G>A (p.Gly1937Glu) n.4484G>A c.809G>A (p.Gly270Glu) c.*1573G>A (n.*1573G>A) c.1117G>A | ClinVar dbSNP |
| 15 | g.48445484C>A | CA392340192 | FBN1 | c.5809G>T (p.Gly1937Ter) n.4483G>T c.808G>T (p.Gly270Ter) c.*1572G>T (n.*1572G>T) c.1116G>T | ClinVar dbSNP |
| 15 | g.48445484C= | CA2175492818 | FBN1 | c.5809G= (p.Gly1937=) n.4483G= c.808G= (p.Gly270=) c.*1572G= (n.*1572G=) c.1116G= | |
| 15 | g.48445484C>G | CA392340193 | FBN1 | c.5809G>C (p.Gly1937Arg) n.4483G>C c.808G>C (p.Gly270Arg) c.*1572G>C (n.*1572G>C) c.1116G>C | |
| 15 | g.48445484C>T | CA392340194 | FBN1 | c.5809G>A (p.Gly1937Arg) n.4483G>A c.808G>A (p.Gly270Arg) c.*1572G>A (n.*1572G>A) c.1116G>A | gnomAD v4 |
| 15 | g.48445485A>C | CA392340196 | FBN1 | c.5808T>G (p.Ser1936Arg) n.4482T>G c.807T>G (p.Ser269Arg) c.*1571T>G (n.*1571T>G) c.1115T>G | |
| 15 | g.48445485A>G | CA490022725 | FBN1 | c.5808T>C (p.Ser1936=) n.4482T>C c.807T>C (p.Ser269=) c.*1571T>C (n.*1571T>C) c.1115T>C | |
| 15 | g.48445485A>T | CA392340198 | FBN1 | c.5808T>A (p.Ser1936Arg) n.4482T>A c.807T>A (p.Ser269Arg) c.*1571T>A (n.*1571T>A) c.1115T>A | |
| 15 | g.48445486C>A | CA392340200 | FBN1 | c.5807G>T (p.Ser1936Ile) n.4481G>T c.806G>T (p.Ser269Ile) c.*1570G>T (n.*1570G>T) c.1114G>T | |
| 15 | g.48445486C>G | CA392340203 | FBN1 | c.5807G>C (p.Ser1936Thr) n.4481G>C c.806G>C (p.Ser269Thr) c.*1570G>C (n.*1570G>C) c.1114G>C | COSMIC |
| 15 | g.48445486C>T | CA392340201 | FBN1 | c.5807G>A (p.Ser1936Asn) n.4481G>A c.806G>A (p.Ser269Asn) c.*1570G>A (n.*1570G>A) c.1114G>A | gnomAD v4 COSMIC |
| 15 | g.48445487T>A | CA392340204 | FBN1 | c.5806A>T (p.Ser1936Cys) n.4480A>T c.805A>T (p.Ser269Cys) c.*1569A>T (n.*1569A>T) c.1113A>T | |
| 15 | g.48445487T>C | CA353660 | FBN1 | c.5806A>G (p.Ser1936Gly) n.4480A>G c.805A>G (p.Ser269Gly) c.*1569A>G (n.*1569A>G) c.1113A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445487T>G | CA392340206 | FBN1 | c.5806A>C (p.Ser1936Arg) n.4480A>C c.805A>C (p.Ser269Arg) c.*1569A>C (n.*1569A>C) c.1113A>C | |
| 15 | g.48445487T= | CA2175492830 | FBN1 | c.5806A= (p.Ser1936=) n.4480A= c.805A= (p.Ser269=) c.*1569A= (n.*1569A=) c.1113A= | |
| 15 | g.48445488T>A | CA490022739 | FBN1 | c.5805A>T (p.Ala1935=) n.4479A>T c.804A>T (p.Ala268=) c.*1568A>T (n.*1568A>T) c.1112A>T | |
| 15 | g.48445488T>C | CA490022742 | FBN1 | c.5805A>G (p.Ala1935=) n.4479A>G c.804A>G (p.Ala268=) c.*1568A>G (n.*1568A>G) c.1112A>G | |
| 15 | g.48445488T>G | CA055704 | FBN1 | c.5805A>C (p.Ala1935=) n.4479A>C c.804A>C (p.Ala268=) c.*1568A>C (n.*1568A>C) c.1112A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445488T= | CA2175492836 | FBN1 | c.5805A= (p.Ala1935=) n.4479A= c.804A= (p.Ala268=) c.*1568A= (n.*1568A=) c.1112A= | |
| 15 | g.48445489G>A | CA392340209 | FBN1 | c.5804C>T (p.Ala1935Val) n.4478C>T c.803C>T (p.Ala268Val) c.*1567C>T (n.*1567C>T) c.1111C>T | |
| 15 | g.48445489G>C | CA392340211 | FBN1 | c.5804C>G (p.Ala1935Gly) n.4478C>G c.803C>G (p.Ala268Gly) c.*1567C>G (n.*1567C>G) c.1111C>G | |
| 15 | g.48445489G>T | CA392340212 | FBN1 | c.5804C>A (p.Ala1935Glu) n.4478C>A c.803C>A (p.Ala268Glu) c.*1567C>A (n.*1567C>A) c.1111C>A | |
| 15 | g.48445490C>A | CA392340213 | FBN1 | c.5803G>T (p.Ala1935Ser) n.4477G>T c.802G>T (p.Ala268Ser) c.*1566G>T (n.*1566G>T) c.1110G>T | |
| 15 | g.48445490C>G | CA392340214 | FBN1 | c.5803G>C (p.Ala1935Pro) n.4477G>C c.802G>C (p.Ala268Pro) c.*1566G>C (n.*1566G>C) c.1110G>C | |
| 15 | g.48445490C>T | CA392340215 | FBN1 | c.5803G>A (p.Ala1935Thr) n.4477G>A c.802G>A (p.Ala268Thr) c.*1566G>A (n.*1566G>A) c.1110G>A | gnomAD v4 |
| 15 | g.48445491A>C | CA392340217 | FBN1 | c.5802T>G (p.Cys1934Trp) n.4476T>G c.801T>G (p.Cys267Trp) c.*1565T>G (n.*1565T>G) c.1109T>G | ClinVar dbSNP |
| 15 | g.48445491A>G | CA490022755 | FBN1 | c.5802T>C (p.Cys1934=) n.4476T>C c.801T>C (p.Cys267=) c.*1565T>C (n.*1565T>C) c.1109T>C | |
| 15 | g.48445491A>T | CA392340219 | FBN1 | c.5802T>A (p.Cys1934Ter) n.4476T>A c.801T>A (p.Cys267Ter) c.*1565T>A (n.*1565T>A) c.1109T>A | |
| 15 | g.48445492C>A | CA392340222 | FBN1 | c.5801G>T (p.Cys1934Phe) n.4475G>T c.800G>T (p.Cys267Phe) c.*1564G>T (n.*1564G>T) c.1108G>T | |
| 15 | g.48445492C= | CA2175492844 | FBN1 | c.5801G= (p.Cys1934=) n.4475G= c.800G= (p.Cys267=) c.*1564G= (n.*1564G=) c.1108G= | |
| 15 | g.48445492C>G | CA392340225 | FBN1 | c.5801G>C (p.Cys1934Ser) n.4475G>C c.800G>C (p.Cys267Ser) c.*1564G>C (n.*1564G>C) c.1108G>C | ClinVar dbSNP |
| 15 | g.48445492C>T | CA016083 | FBN1 | c.5801G>A (p.Cys1934Tyr) n.4475G>A c.800G>A (p.Cys267Tyr) c.*1564G>A (n.*1564G>A) c.1108G>A | ClinVar dbSNP |
| 15 | g.48445493A= | CA2175492851 | FBN1 | c.5800T= (p.Cys1934=) n.4474T= c.799T= (p.Cys267=) c.*1563T= (n.*1563T=) c.1107T= | |
| 15 | g.48445493A>C | CA392340227 | FBN1 | c.5800T>G (p.Cys1934Gly) n.4474T>G c.799T>G (p.Cys267Gly) c.*1563T>G (n.*1563T>G) c.1107T>G | |
| 15 | g.48445493A>G | CA392340228 | FBN1 | c.5800T>C (p.Cys1934Arg) n.4474T>C c.799T>C (p.Cys267Arg) c.*1563T>C (n.*1563T>C) c.1107T>C | ClinVar dbSNP |
| 15 | g.48445493A>T | CA392340230 | FBN1 | c.5800T>A (p.Cys1934Ser) n.4474T>A c.799T>A (p.Cys267Ser) c.*1563T>A (n.*1563T>A) c.1107T>A | ClinVar dbSNP |
| 15 | g.48445494T>A | CA392340232 | FBN1 | c.5799A>T (p.Glu1933Asp) n.4473A>T c.798A>T (p.Glu266Asp) c.*1562A>T (n.*1562A>T) c.1106A>T | gnomAD v4 |
| 15 | g.48445494T>C | CA490022773 | FBN1 | c.5799A>G (p.Glu1933=) n.4473A>G c.798A>G (p.Glu266=) c.*1562A>G (n.*1562A>G) c.1106A>G | dbSNP |
| 15 | g.48445494T>G | CA392340234 | FBN1 | c.5799A>C (p.Glu1933Asp) n.4473A>C c.798A>C (p.Glu266Asp) c.*1562A>C (n.*1562A>C) c.1106A>C | |
| 15 | g.48445494T= | CA2175492856 | FBN1 | c.5799A= (p.Glu1933=) n.4473A= c.798A= (p.Glu266=) c.*1562A= (n.*1562A=) c.1106A= | |
| 15 | g.48445495T>A | CA392340240 | FBN1 | c.5798A>T (p.Glu1933Val) n.4472A>T c.797A>T (p.Glu266Val) c.*1561A>T (n.*1561A>T) c.1105A>T | |
| 15 | g.48445495T>C | CA392340236 | FBN1 | c.5798A>G (p.Glu1933Gly) n.4472A>G c.797A>G (p.Glu266Gly) c.*1561A>G (n.*1561A>G) c.1105A>G | |
| 15 | g.48445495T>G | CA392340238 | FBN1 | c.5798A>C (p.Glu1933Ala) n.4472A>C c.797A>C (p.Glu266Ala) c.*1561A>C (n.*1561A>C) c.1105A>C | |
| 15 | g.48445498_48445500del | CA2695220239 | FBN1 | c.5796_5798del (p.Asp1932del) n.4470_4472del c.795_797del (p.Asp265del) c.*1559_*1561del (n.*1559_*1561del) c.1103_1105del | |
| 15 | g.48445496del | CA2695220241 | FBN1 | c.5797del (p.Glu1933AsnfsTer?) n.4471del c.796del (p.Glu266AsnfsTer?) c.*1560del (n.*1560del) c.1104del | |
| 15 | g.48445496C>A | CA392340242 | FBN1 | c.5797G>T (p.Glu1933Ter) n.4471G>T c.796G>T (p.Glu266Ter) c.*1560G>T (n.*1560G>T) c.1104G>T | |
| 15 | g.48445496C>G | CA392340244 | FBN1 | c.5797G>C (p.Glu1933Gln) n.4471G>C c.796G>C (p.Glu266Gln) c.*1560G>C (n.*1560G>C) c.1104G>C | |
| 15 | g.48445496C>T | CA392340245 | FBN1 | c.5797G>A (p.Glu1933Lys) n.4471G>A c.796G>A (p.Glu266Lys) c.*1560G>A (n.*1560G>A) c.1104G>A | ClinVar dbSNP |
| 15 | g.48445497A>C | CA392340248 | FBN1 | c.5796T>G (p.Asp1932Glu) n.4470T>G c.795T>G (p.Asp265Glu) c.*1559T>G (n.*1559T>G) c.1103T>G | |
| 15 | g.48445497A>G | CA490022778 | FBN1 | c.5796T>C (p.Asp1932=) n.4470T>C c.795T>C (p.Asp265=) c.*1559T>C (n.*1559T>C) c.1103T>C | |
| 15 | g.48445497A>T | CA392340250 | FBN1 | c.5796T>A (p.Asp1932Glu) n.4470T>A c.795T>A (p.Asp265Glu) c.*1559T>A (n.*1559T>A) c.1103T>A | |
| 15 | g.48445498T>A | CA392340251 | FBN1 | c.5795A>T (p.Asp1932Val) n.4469A>T c.794A>T (p.Asp265Val) c.*1558A>T (n.*1558A>T) c.1102A>T | |
| 15 | g.48445498T>C | CA392340255 | FBN1 | c.5795A>G (p.Asp1932Gly) n.4469A>G c.794A>G (p.Asp265Gly) c.*1558A>G (n.*1558A>G) c.1102A>G | dbSNP |
| 15 | g.48445498T>G | CA392340253 | FBN1 | c.5795A>C (p.Asp1932Ala) n.4469A>C c.794A>C (p.Asp265Ala) c.*1558A>C (n.*1558A>C) c.1102A>C | ClinVar dbSNP |
| 15 | g.48445498T= | CA2175492868 | FBN1 | c.5795A= (p.Asp1932=) n.4469A= c.794A= (p.Asp265=) c.*1558A= (n.*1558A=) c.1102A= | |
| 15 | g.48445499C>A | CA392340257 | FBN1 | c.5794G>T (p.Asp1932Tyr) n.4468G>T c.793G>T (p.Asp265Tyr) c.*1557G>T (n.*1557G>T) c.1101G>T | |
| 15 | g.48445499C>G | CA392340261 | FBN1 | c.5794G>C (p.Asp1932His) n.4468G>C c.793G>C (p.Asp265His) c.*1557G>C (n.*1557G>C) c.1101G>C | |
| 15 | g.48445499C>T | CA392340259 | FBN1 | c.5794G>A (p.Asp1932Asn) n.4468G>A c.793G>A (p.Asp265Asn) c.*1557G>A (n.*1557G>A) c.1101G>A | |
| 15 | g.48445501_48445503del | CA2695220242 | FBN1 | c.5792_5794del (p.Val1931del) n.4466_4468del c.791_793del (p.Val264del) c.*1555_*1557del (n.*1555_*1557del) c.1099_1101del | |
| 15 | g.48445499_48445512delinsCAACATCTGCAGAA | CA2175492875 | FBN1 | c.5789-8_5794delinsTTCTGCAGATGTTG n.4463-8_4468delinsTTCTGCAGATGTTG c.788-8_793delinsTTCTGCAGATGTTG c.*1552-8_*1557delinsTTCTGCAGATGTTG c.1096-8_1101delinsTTCTGCAGATGTTG | |
| 15 | g.48445500A>C | CA490022788 | FBN1 | c.5793T>G (p.Val1931=) n.4467T>G c.792T>G (p.Val264=) c.*1556T>G (n.*1556T>G) c.1100T>G | |
| 15 | g.48445500A>G | CA490022790 | FBN1 | c.5793T>C (p.Val1931=) n.4467T>C c.792T>C (p.Val264=) c.*1556T>C (n.*1556T>C) c.1100T>C | |
| 15 | g.48445500A>T | CA490022791 | FBN1 | c.5793T>A (p.Val1931=) n.4467T>A c.792T>A (p.Val264=) c.*1556T>A (n.*1556T>A) c.1100T>A | |
| 15 | g.48445502_48445514del | CA16619949 | FBN1 | c.5789-8_5793del n.4463-8_4467del c.788-8_792del c.*1552-8_*1556del c.1096-8_1100del | ClinVar dbSNP |
| 15 | g.48445501A>C | CA392340263 | FBN1 | c.5792T>G (p.Val1931Gly) n.4466T>G c.791T>G (p.Val264Gly) c.*1555T>G (n.*1555T>G) c.1099T>G | |
| 15 | g.48445501A>G | CA392340267 | FBN1 | c.5792T>C (p.Val1931Ala) n.4466T>C c.791T>C (p.Val264Ala) c.*1555T>C (n.*1555T>C) c.1099T>C | |
| 15 | g.48445501A>T | CA392340265 | FBN1 | c.5792T>A (p.Val1931Asp) n.4466T>A c.791T>A (p.Val264Asp) c.*1555T>A (n.*1555T>A) c.1099T>A | |
| 15 | g.48445502C>A | CA392340270 | FBN1 | c.5791G>T (p.Val1931Phe) n.4465G>T c.790G>T (p.Val264Phe) c.*1554G>T (n.*1554G>T) c.1098G>T | |
| 15 | g.48445502C= | CA2175492890 | FBN1 | c.5791G= (p.Val1931=) n.4465G= c.790G= (p.Val264=) c.*1554G= (n.*1554G=) c.1098G= | |
| 15 | g.48445502C>G | CA392340271 | FBN1 | c.5791G>C (p.Val1931Leu) n.4465G>C c.790G>C (p.Val264Leu) c.*1554G>C (n.*1554G>C) c.1098G>C | |
| 15 | g.48445502C>T | CA392340272 | FBN1 | c.5791G>A (p.Val1931Ile) n.4465G>A c.790G>A (p.Val264Ile) c.*1554G>A (n.*1554G>A) c.1098G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445503A>C | CA392340275 | FBN1 | c.5790T>G (p.Asp1930Glu) n.4464T>G c.789T>G (p.Asp263Glu) c.*1553T>G (n.*1553T>G) c.1097T>G | |
| 15 | g.48445503A>G | CA490022801 | FBN1 | c.5790T>C (p.Asp1930=) n.4464T>C c.789T>C (p.Asp263=) c.*1553T>C (n.*1553T>C) c.1097T>C | |
| 15 | g.48445503A>T | CA392340276 | FBN1 | c.5790T>A (p.Asp1930Glu) n.4464T>A c.789T>A (p.Asp263Glu) c.*1553T>A (n.*1553T>A) c.1097T>A | |
| 15 | g.48445504T>A | CA392340278 | FBN1 | c.5789A>T (p.Asp1930Val) n.4463A>T c.788A>T (p.Asp263Val) c.*1552A>T (n.*1552A>T) c.1096A>T | |
| 15 | g.48445504T>C | CA392340280 | FBN1 | c.5789A>G (p.Asp1930Gly) n.4463A>G c.788A>G (p.Asp263Gly) c.*1552A>G (n.*1552A>G) c.1096A>G | ClinVar |
| 15 | g.48445504T>G | CA392340283 | FBN1 | c.5789A>C (p.Asp1930Ala) n.4463A>C c.788A>C (p.Asp263Ala) c.*1552A>C (n.*1552A>C) c.1096A>C | |
| 15 | g.48445505C>A | CA392340285 | FBN1 | c.5789-1G>T (n.5789-1G>T) n.4463-1G>T c.788-1G>T (n.788-1G>T) c.*1552-1G>T (n.*1552-1G>T) c.1096-1G>T | |
| 15 | g.48445505C= | CA2175492902 | FBN1 | c.5789-1G= (n.5789-1G=) n.4463-1G= c.788-1G= (n.788-1G=) c.*1552-1G= (n.*1552-1G=) c.1096-1G= | |
| 15 | g.48445505C>G | CA392340286 | FBN1 | c.5789-1G>C (n.5789-1G>C) n.4463-1G>C c.788-1G>C (n.788-1G>C) c.*1552-1G>C (n.*1552-1G>C) c.1096-1G>C | |
| 15 | g.48445505C>T | CA392340288 | FBN1 | c.5789-1G>A (n.5789-1G>A) n.4463-1G>A c.788-1G>A (n.788-1G>A) c.*1552-1G>A (n.*1552-1G>A) c.1096-1G>A | ClinVar dbSNP |
| 15 | g.48445506T>A | CA392340293 | FBN1 | c.5789-2A>T (n.5789-2A>T) n.4463-2A>T c.788-2A>T (n.788-2A>T) c.*1552-2A>T (n.*1552-2A>T) c.1096-2A>T | |
| 15 | g.48445506T>C | CA10587813 | FBN1 | c.5789-2A>G (n.5789-2A>G) n.4463-2A>G c.788-2A>G (n.788-2A>G) c.*1552-2A>G (n.*1552-2A>G) c.1096-2A>G | ClinVar dbSNP |
| 15 | g.48445506T>G | CA392340291 | FBN1 | c.5789-2A>C (n.5789-2A>C) n.4463-2A>C c.788-2A>C (n.788-2A>C) c.*1552-2A>C (n.*1552-2A>C) c.1096-2A>C | |
| 15 | g.48445506T= | CA2175492907 | FBN1 | c.5789-2A= (n.5789-2A=) n.4463-2A= c.788-2A= (n.788-2A=) c.*1552-2A= (n.*1552-2A=) c.1096-2A= | |
| 15 | g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATT | CA2628347635 | FBN1 | c.5789-2_5789-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA (n.5789-2_5789-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA) n.4463-2_4463-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA c.788-2_788-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA (n.788-2_788-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA) c.*1552-2_*1552-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA (n.*1552-2_*1552-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA) c.1096-2_1096-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA | gnomAD v4 |
| 15 | g.48445506_48445507insATACA | CA2628347637 | FBN1 | c.5789-3_5789-2insTGTAT (n.5789-3_5789-2insTGTAT) n.4463-3_4463-2insTGTAT c.788-3_788-2insTGTAT (n.788-3_788-2insTGTAT) c.*1552-3_*1552-2insTGTAT (n.*1552-3_*1552-2insTGTAT) c.1096-3_1096-2insTGTAT | gnomAD v4 |
| 15 | g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCG | CA2628347638 | FBN1 | c.5789-3_5789-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.5789-3_5789-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) n.4463-3_4463-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT c.788-3_788-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.788-3_788-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.*1552-3_*1552-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.*1552-3_*1552-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.1096-3_1096-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT | gnomAD v4 |
| 15 | g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCG | CA2628347636 | FBN1 | c.5789-3_5789-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.5789-3_5789-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) n.4463-3_4463-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT c.788-3_788-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.788-3_788-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.*1552-3_*1552-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.*1552-3_*1552-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.1096-3_1096-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT | gnomAD v4 |
| 15 | g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAG | CA617837075 | FBN1 | c.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) n.4463-3_4463-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT c.788-3_788-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.788-3_788-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.*1552-3_*1552-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.*1552-3_*1552-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.1096-3_1096-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT | gnomAD v2 gnomAD v4 |
| 15 | g.48445507G>A | CA617837076 | FBN1 | c.5789-3C>T (n.5789-3C>T) n.4463-3C>T c.788-3C>T (n.788-3C>T) c.*1552-3C>T (n.*1552-3C>T) c.1096-3C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445507G= | CA2175492911 | FBN1 | c.5789-3C= (n.5789-3C=) n.4463-3C= c.788-3C= (n.788-3C=) c.*1552-3C= (n.*1552-3C=) c.1096-3C= | |
| 15 | g.48445507G>T | CA2695220244 | FBN1 | c.5789-3C>A (n.5789-3C>A) n.4463-3C>A c.788-3C>A (n.788-3C>A) c.*1552-3C>A (n.*1552-3C>A) c.1096-3C>A | |
| 15 | g.48445507_48445508insTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCA | CA2628347639 | FBN1 | c.5789-4_5789-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA (n.5789-4_5789-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA) n.4463-4_4463-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA c.788-4_788-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA (n.788-4_788-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA) c.*1552-4_*1552-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA (n.*1552-4_*1552-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA) c.1096-4_1096-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA | gnomAD v4 |
| 15 | g.48445508C>T | CA2575716715 | FBN1 | c.5789-4G>A (n.5789-4G>A) n.4463-4G>A c.788-4G>A (n.788-4G>A) c.*1552-4G>A (n.*1552-4G>A) c.1096-4G>A | |
| 15 | g.48445510G>A | CA2175492915 | FBN1 | c.5789-6C>T (n.5789-6C>T) n.4463-6C>T c.788-6C>T (n.788-6C>T) c.*1552-6C>T (n.*1552-6C>T) c.1096-6C>T | dbSNP |
| 15 | g.48445510G= | CA2175492914 | FBN1 | c.5789-6C= (n.5789-6C=) n.4463-6C= c.788-6C= (n.788-6C=) c.*1552-6C= (n.*1552-6C=) c.1096-6C= | |
| 15 | g.48445510_48445511insCGG | CA2628347640 | FBN1 | c.5789-6_5789-5insCGC (n.5789-6_5789-5insCGC) n.4463-6_4463-5insCGC c.788-6_788-5insCGC (n.788-6_788-5insCGC) c.*1552-6_*1552-5insCGC (n.*1552-6_*1552-5insCGC) c.1096-6_1096-5insCGC | gnomAD v4 |
| 15 | g.48445511A>G | CA2575716718 | FBN1 | c.5789-7T>C (n.5789-7T>C) n.4463-7T>C c.788-7T>C (n.788-7T>C) c.*1552-7T>C (n.*1552-7T>C) c.1096-7T>C | |
| 15 | g.48445513_48445519delinsT | CA2695220245 | FBN1 | c.5789-15_5789-9delinsA (n.5789-15_5789-9delinsA) n.4463-15_4463-9delinsA c.788-15_788-9delinsA (n.788-15_788-9delinsA) c.*1552-15_*1552-9delinsA (n.*1552-15_*1552-9delinsA) c.1096-15_1096-9delinsA | |
| 15 | g.48445514A>T | CA2573150958 | FBN1 | c.5789-10T>A (n.5789-10T>A) n.4463-10T>A c.788-10T>A (n.788-10T>A) c.*1552-10T>A (n.*1552-10T>A) c.1096-10T>A | ClinVar dbSNP |
| 15 | g.48445515A>C | CA2740096636 | FBN1 | c.5789-11T>G (n.5789-11T>G) n.4463-11T>G c.788-11T>G (n.788-11T>G) c.*1552-11T>G (n.*1552-11T>G) c.1096-11T>G | ClinVar |
| 15 | g.48445517C>A | CA055672 | FBN1 | c.5789-13G>T (n.5789-13G>T) n.4463-13G>T c.788-13G>T (n.788-13G>T) c.*1552-13G>T (n.*1552-13G>T) c.1096-13G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445517C= | CA2175492920 | FBN1 | c.5789-13G= (n.5789-13G=) n.4463-13G= c.788-13G= (n.788-13G=) c.*1552-13G= (n.*1552-13G=) c.1096-13G= | |
| 15 | g.48445517C>T | CA055665 | FBN1 | c.5789-13G>A (n.5789-13G>A) n.4463-13G>A c.788-13G>A (n.788-13G>A) c.*1552-13G>A (n.*1552-13G>A) c.1096-13G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445518C>T | CA2740096637 | FBN1 | c.5789-14G>A (n.5789-14G>A) n.4463-14G>A c.788-14G>A (n.788-14G>A) c.*1552-14G>A (n.*1552-14G>A) c.1096-14G>A | ClinVar |
| 15 | g.48445519C>T | CA2695220246 | FBN1 | c.5789-15G>A (n.5789-15G>A) n.4463-15G>A c.788-15G>A (n.788-15G>A) c.*1552-15G>A (n.*1552-15G>A) c.1096-15G>A | |
| 15 | g.48445521A= | CA2175492927 | FBN1 | c.5789-17T= (n.5789-17T=) n.4463-17T= c.788-17T= (n.788-17T=) c.*1552-17T= (n.*1552-17T=) c.1096-17T= | |
| 15 | g.48445521A>G | CA617837079 | FBN1 | c.5789-17T>C (n.5789-17T>C) n.4463-17T>C c.788-17T>C (n.788-17T>C) c.*1552-17T>C (n.*1552-17T>C) c.1096-17T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445523C>A | CA2628347641 | FBN1 | c.5789-19G>T (n.5789-19G>T) n.4463-19G>T c.788-19G>T (n.788-19G>T) c.*1552-19G>T (n.*1552-19G>T) c.1096-19G>T | gnomAD v4 |
| 15 | g.48445523C= | CA2175492929 | FBN1 | c.5789-19G= (n.5789-19G=) n.4463-19G= c.788-19G= (n.788-19G=) c.*1552-19G= (n.*1552-19G=) c.1096-19G= | |
| 15 | g.48445523C>G | CA617837081 | FBN1 | c.5789-19G>C (n.5789-19G>C) n.4463-19G>C c.788-19G>C (n.788-19G>C) c.*1552-19G>C (n.*1552-19G>C) c.1096-19G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445526T>C | CA2628347642 | FBN1 | c.5789-22A>G (n.5789-22A>G) n.4463-22A>G c.788-22A>G (n.788-22A>G) c.*1552-22A>G (n.*1552-22A>G) c.1096-22A>G | gnomAD v4 |
| 15 | g.48445528C>T | CA2628347643 | FBN1 | c.5789-24G>A (n.5789-24G>A) n.4463-24G>A c.788-24G>A (n.788-24G>A) c.*1552-24G>A (n.*1552-24G>A) c.1096-24G>A | gnomAD v4 |
| 15 | g.48445529T>G | CA2741427169 | FBN1 | c.5789-25A>C (n.5789-25A>C) n.4463-25A>C c.788-25A>C (n.788-25A>C) c.*1552-25A>C (n.*1552-25A>C) c.1096-25A>C | |
| 15 | g.48445529_48445531del | CA2804070419 | FBN1 | c.5789-27_5789-25del (n.5789-27_5789-25del) n.4463-27_4463-25del c.788-27_788-25del (n.788-27_788-25del) c.*1552-27_*1552-25del (n.*1552-27_*1552-25del) c.1096-27_1096-25del | |
| 15 | g.48445531del | CA2804070418 | FBN1 | c.5789-25del (n.5789-25del) n.4463-25del c.788-25del (n.788-25del) c.*1552-25del (n.*1552-25del) c.1096-25del | |
| 15 | g.48445533A>G | CA2628347644 | FBN1 | c.5789-29T>C (n.5789-29T>C) n.4463-29T>C c.788-29T>C (n.788-29T>C) c.*1552-29T>C (n.*1552-29T>C) c.1096-29T>C | gnomAD v4 |
| 15 | g.48445534T>C | CA2628347645 | FBN1 | c.5789-30A>G (n.5789-30A>G) n.4463-30A>G c.788-30A>G (n.788-30A>G) c.*1552-30A>G (n.*1552-30A>G) c.1096-30A>G | gnomAD v4 |
| 15 | g.48445535A= | CA2175492935 | FBN1 | c.5789-31T= (n.5789-31T=) n.4463-31T= c.788-31T= (n.788-31T=) c.*1552-31T= (n.*1552-31T=) c.1096-31T= | |
| 15 | g.48445535A>G | CA055679 | FBN1 | c.5789-31T>C (n.5789-31T>C) n.4463-31T>C c.788-31T>C (n.788-31T>C) c.*1552-31T>C (n.*1552-31T>C) c.1096-31T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445536T>C | CA2175492943 | FBN1 | c.5789-32A>G (n.5789-32A>G) n.4463-32A>G c.788-32A>G (n.788-32A>G) c.*1552-32A>G (n.*1552-32A>G) c.1096-32A>G | dbSNP gnomAD v4 |
| 15 | g.48445536T>G | CA2628347646 | FBN1 | c.5789-32A>C (n.5789-32A>C) n.4463-32A>C c.788-32A>C (n.788-32A>C) c.*1552-32A>C (n.*1552-32A>C) c.1096-32A>C | gnomAD v4 |
| 15 | g.48445536T= | CA2175492940 | FBN1 | c.5789-32A= (n.5789-32A=) n.4463-32A= c.788-32A= (n.788-32A=) c.*1552-32A= (n.*1552-32A=) c.1096-32A= | |
| 15 | g.48445538T>C | CA2628347647 | FBN1 | c.5789-34A>G (n.5789-34A>G) n.4463-34A>G c.788-34A>G (n.788-34A>G) c.*1552-34A>G (n.*1552-34A>G) c.1096-34A>G | gnomAD v4 |
| 15 | g.48445541C>T | CA2628347648 | FBN1 | c.5789-37G>A (n.5789-37G>A) n.4463-37G>A c.788-37G>A (n.788-37G>A) c.*1552-37G>A (n.*1552-37G>A) c.1096-37G>A | gnomAD v4 |
| 15 | g.48445542A= | CA2175492945 | FBN1 | c.5789-38T= (n.5789-38T=) n.4463-38T= c.788-38T= (n.788-38T=) c.*1552-38T= (n.*1552-38T=) c.1096-38T= | |
| 15 | g.48445542A>C | CA617837083 | FBN1 | c.5789-38T>G (n.5789-38T>G) n.4463-38T>G c.788-38T>G (n.788-38T>G) c.*1552-38T>G (n.*1552-38T>G) c.1096-38T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445543A= | CA2175492949 | FBN1 | c.5789-39T= (n.5789-39T=) n.4463-39T= c.788-39T= (n.788-39T=) c.*1552-39T= (n.*1552-39T=) c.1096-39T= | |
| 15 | g.48445543A>C | CA617837084 | FBN1 | c.5789-39T>G (n.5789-39T>G) n.4463-39T>G c.788-39T>G (n.788-39T>G) c.*1552-39T>G (n.*1552-39T>G) c.1096-39T>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445543A>G | CA055686 | FBN1 | c.5789-39T>C (n.5789-39T>C) n.4463-39T>C c.788-39T>C (n.788-39T>C) c.*1552-39T>C (n.*1552-39T>C) c.1096-39T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445545G>A | CA713394420 | FBN1 | c.5789-41C>T (n.5789-41C>T) n.4463-41C>T c.788-41C>T (n.788-41C>T) c.*1552-41C>T (n.*1552-41C>T) c.1096-41C>T | dbSNP |
| 15 | g.48445545G= | CA2175492956 | FBN1 | c.5789-41C= (n.5789-41C=) n.4463-41C= c.788-41C= (n.788-41C=) c.*1552-41C= (n.*1552-41C=) c.1096-41C= | |
| 15 | g.48445546A= | CA2175492962 | FBN1 | c.5789-42T= (n.5789-42T=) n.4463-42T= c.788-42T= (n.788-42T=) c.*1552-42T= (n.*1552-42T=) c.1096-42T= | |
| 15 | g.48445546A>G | CA617837085 | FBN1 | c.5789-42T>C (n.5789-42T>C) n.4463-42T>C c.788-42T>C (n.788-42T>C) c.*1552-42T>C (n.*1552-42T>C) c.1096-42T>C | dbSNP gnomAD v2 |
| 15 | g.48445546A>T | CA2804070422 | FBN1 | c.5789-42T>A (n.5789-42T>A) n.4463-42T>A c.788-42T>A (n.788-42T>A) c.*1552-42T>A (n.*1552-42T>A) c.1096-42T>A | |
| 15 | g.48445548G>T | CA2628347649 | FBN1 | c.5789-44C>A (n.5789-44C>A) n.4463-44C>A c.788-44C>A (n.788-44C>A) c.*1552-44C>A (n.*1552-44C>A) c.1096-44C>A | gnomAD v4 |
| 15 | g.48445549T>A | CA055695 | FBN1 | c.5789-45A>T (n.5789-45A>T) n.4463-45A>T c.788-45A>T (n.788-45A>T) c.*1552-45A>T (n.*1552-45A>T) c.1096-45A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445549T>C | CA2628347650 | FBN1 | c.5789-45A>G (n.5789-45A>G) n.4463-45A>G c.788-45A>G (n.788-45A>G) c.*1552-45A>G (n.*1552-45A>G) c.1096-45A>G | gnomAD v4 |
| 15 | g.48445549T= | CA2175492973 | FBN1 | c.5789-45A= (n.5789-45A=) n.4463-45A= c.788-45A= (n.788-45A=) c.*1552-45A= (n.*1552-45A=) c.1096-45A= | |
| 15 | g.48445550C>A | CA2628347651 | FBN1 | c.5789-46G>T (n.5789-46G>T) n.4463-46G>T c.788-46G>T (n.788-46G>T) c.*1552-46G>T (n.*1552-46G>T) c.1096-46G>T | gnomAD v4 |
| 15 | g.48445554A>T | CA2628347652 | FBN1 | c.5789-50T>A (n.5789-50T>A) n.4463-50T>A c.788-50T>A (n.788-50T>A) c.*1552-50T>A (n.*1552-50T>A) c.1096-50T>A | gnomAD v4 |
| 15 | g.48445556C>A | CA2628347653 | FBN1 | c.5789-52G>T (n.5789-52G>T) n.4463-52G>T c.788-52G>T (n.788-52G>T) c.*1552-52G>T (n.*1552-52G>T) c.1096-52G>T | gnomAD v4 |
| 15 | g.48445556C= | CA2175492977 | FBN1 | c.5789-52G= (n.5789-52G=) n.4463-52G= c.788-52G= (n.788-52G=) c.*1552-52G= (n.*1552-52G=) c.1096-52G= | |
| 15 | g.48445556C>T | CA617837088 | FBN1 | c.5789-52G>A (n.5789-52G>A) n.4463-52G>A c.788-52G>A (n.788-52G>A) c.*1552-52G>A (n.*1552-52G>A) c.1096-52G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445558del | CA2575716729 | FBN1 | c.5789-52del (n.5789-52del) n.4463-52del c.788-52del (n.788-52del) c.*1552-52del (n.*1552-52del) c.1096-52del | |
| 15 | g.48445557C= | CA2175492981 | FBN1 | c.5789-53G= (n.5789-53G=) n.4463-53G= c.788-53G= (n.788-53G=) c.*1552-53G= (n.*1552-53G=) c.1096-53G= | |
| 15 | g.48445557C>T | CA2175492984 | FBN1 | c.5789-53G>A (n.5789-53G>A) n.4463-53G>A c.788-53G>A (n.788-53G>A) c.*1552-53G>A (n.*1552-53G>A) c.1096-53G>A | dbSNP gnomAD v4 |
| 15 | g.48445558C>T | CA2628347654 | FBN1 | c.5789-54G>A (n.5789-54G>A) n.4463-54G>A c.788-54G>A (n.788-54G>A) c.*1552-54G>A (n.*1552-54G>A) c.1096-54G>A | gnomAD v4 |
| 15 | g.48445559A>G | CA2628347655 | FBN1 | c.5789-55T>C (n.5789-55T>C) n.4463-55T>C c.788-55T>C (n.788-55T>C) c.*1552-55T>C (n.*1552-55T>C) c.1096-55T>C | gnomAD v4 |
| 15 | g.48445560G>A | CA2628347657 | FBN1 | c.5789-56C>T (n.5789-56C>T) n.4463-56C>T c.788-56C>T (n.788-56C>T) c.*1552-56C>T (n.*1552-56C>T) c.1096-56C>T | gnomAD v4 |
| 15 | g.48445560G>T | CA2628347656 | FBN1 | c.5789-56C>A (n.5789-56C>A) n.4463-56C>A c.788-56C>A (n.788-56C>A) c.*1552-56C>A (n.*1552-56C>A) c.1096-56C>A | gnomAD v4 |
| 15 | g.48445561C>A | CA2175492990 | FBN1 | c.5789-57G>T (n.5789-57G>T) n.4463-57G>T c.788-57G>T (n.788-57G>T) c.*1552-57G>T (n.*1552-57G>T) c.1096-57G>T | dbSNP gnomAD v4 |
| 15 | g.48445561C= | CA2175492987 | FBN1 | c.5789-57G= (n.5789-57G=) n.4463-57G= c.788-57G= (n.788-57G=) c.*1552-57G= (n.*1552-57G=) c.1096-57G= | |
| 15 | g.48445561C>T | CA656135643 | FBN1 | c.5789-57G>A (n.5789-57G>A) n.4463-57G>A c.788-57G>A (n.788-57G>A) c.*1552-57G>A (n.*1552-57G>A) c.1096-57G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48445564T>C | CA2628347658 | FBN1 | c.5789-60A>G (n.5789-60A>G) n.4463-60A>G c.788-60A>G (n.788-60A>G) c.*1552-60A>G (n.*1552-60A>G) c.1096-60A>G | gnomAD v4 |
| 15 | g.48445567T>A | CA2628347659 | FBN1 | c.5789-63A>T (n.5789-63A>T) n.4463-63A>T c.788-63A>T (n.788-63A>T) c.*1552-63A>T (n.*1552-63A>T) c.1096-63A>T | gnomAD v4 |
| 15 | g.48445567T>G | CA2175492997 | FBN1 | c.5789-63A>C (n.5789-63A>C) n.4463-63A>C c.788-63A>C (n.788-63A>C) c.*1552-63A>C (n.*1552-63A>C) c.1096-63A>C | dbSNP gnomAD v4 |
| 15 | g.48445567T= | CA2175492995 | FBN1 | c.5789-63A= (n.5789-63A=) n.4463-63A= c.788-63A= (n.788-63A=) c.*1552-63A= (n.*1552-63A=) c.1096-63A= | |
| 15 | g.48445568C>A | CA2628347660 | FBN1 | c.5789-64G>T (n.5789-64G>T) n.4463-64G>T c.788-64G>T (n.788-64G>T) c.*1552-64G>T (n.*1552-64G>T) c.1096-64G>T | gnomAD v4 |
| 15 | g.48445568C= | CA2175493000 | FBN1 | c.5789-64G= (n.5789-64G=) n.4463-64G= c.788-64G= (n.788-64G=) c.*1552-64G= (n.*1552-64G=) c.1096-64G= | |
| 15 | g.48445568C>T | CA713394430 | FBN1 | c.5789-64G>A (n.5789-64G>A) n.4463-64G>A c.788-64G>A (n.788-64G>A) c.*1552-64G>A (n.*1552-64G>A) c.1096-64G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48445570A= | CA2175493004 | FBN1 | c.5789-66T= (n.5789-66T=) n.4463-66T= c.788-66T= (n.788-66T=) c.*1552-66T= (n.*1552-66T=) c.1096-66T= | |
| 15 | g.48445570A>T | CA2175493008 | FBN1 | c.5789-66T>A (n.5789-66T>A) n.4463-66T>A c.788-66T>A (n.788-66T>A) c.*1552-66T>A (n.*1552-66T>A) c.1096-66T>A | dbSNP gnomAD v4 |
| 15 | g.48445570_48445571insT | CA2628347661 | FBN1 | c.5789-67_5789-66insA (n.5789-67_5789-66insA) n.4463-67_4463-66insA c.788-67_788-66insA (n.788-67_788-66insA) c.*1552-67_*1552-66insA (n.*1552-67_*1552-66insA) c.1096-67_1096-66insA | gnomAD v4 |
| 15 | g.48445571A= | CA2175493011 | FBN1 | c.5789-67T= (n.5789-67T=) n.4463-67T= c.788-67T= (n.788-67T=) c.*1552-67T= (n.*1552-67T=) c.1096-67T= | |
| 15 | g.48445571A>T | CA2175493012 | FBN1 | c.5789-67T>A (n.5789-67T>A) n.4463-67T>A c.788-67T>A (n.788-67T>A) c.*1552-67T>A (n.*1552-67T>A) c.1096-67T>A | dbSNP |
| 15 | g.48445572A= | CA2175493016 | FBN1 | c.5789-68T= (n.5789-68T=) n.4463-68T= c.788-68T= (n.788-68T=) c.*1552-68T= (n.*1552-68T=) c.1096-68T= | |
| 15 | g.48445572A>T | CA269532924 | FBN1 | c.5789-68T>A (n.5789-68T>A) n.4463-68T>A c.788-68T>A (n.788-68T>A) c.*1552-68T>A (n.*1552-68T>A) c.1096-68T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445572_48445573insT | CA2628347662 | FBN1 | c.5789-69_5789-68insA (n.5789-69_5789-68insA) n.4463-69_4463-68insA c.788-69_788-68insA (n.788-69_788-68insA) c.*1552-69_*1552-68insA (n.*1552-69_*1552-68insA) c.1096-69_1096-68insA | gnomAD v4 |
| 15 | g.48445572_48445573insATCTT | CA2175493023 | FBN1 | c.5789-69_5789-68insAAGAT (n.5789-69_5789-68insAAGAT) n.4463-69_4463-68insAAGAT c.788-69_788-68insAAGAT (n.788-69_788-68insAAGAT) c.*1552-69_*1552-68insAAGAT (n.*1552-69_*1552-68insAAGAT) c.1096-69_1096-68insAAGAT | dbSNP |
| 15 | g.48445573C>A | CA2628347664 | FBN1 | c.5789-69G>T (n.5789-69G>T) n.4463-69G>T c.788-69G>T (n.788-69G>T) c.*1552-69G>T (n.*1552-69G>T) c.1096-69G>T | gnomAD v4 |
| 15 | g.48445573C= | CA2175493026 | FBN1 | c.5789-69G= (n.5789-69G=) n.4463-69G= c.788-69G= (n.788-69G=) c.*1552-69G= (n.*1552-69G=) c.1096-69G= | |
| 15 | g.48445573C>G | CA2628347665 | FBN1 | c.5789-69G>C (n.5789-69G>C) n.4463-69G>C c.788-69G>C (n.788-69G>C) c.*1552-69G>C (n.*1552-69G>C) c.1096-69G>C | gnomAD v4 |
| 15 | g.48445573C>T | CA713394432 | FBN1 | c.5789-69G>A (n.5789-69G>A) n.4463-69G>A c.788-69G>A (n.788-69G>A) c.*1552-69G>A (n.*1552-69G>A) c.1096-69G>A | dbSNP gnomAD v4 |
| 15 | g.48445573_48445577del | CA2628347663 | FBN1 | c.5789-73_5789-69del (n.5789-73_5789-69del) n.4463-73_4463-69del c.788-73_788-69del (n.788-73_788-69del) c.*1552-73_*1552-69del (n.*1552-73_*1552-69del) c.1096-73_1096-69del | gnomAD v4 |
| 15 | g.48445575_48445576insTTT | CA2628347666 | FBN1 | c.5789-70_5789-69insAAA (n.5789-70_5789-69insAAA) n.4463-70_4463-69insAAA c.788-70_788-69insAAA (n.788-70_788-69insAAA) c.*1552-70_*1552-69insAAA (n.*1552-70_*1552-69insAAA) c.1096-70_1096-69insAAA | gnomAD v4 |
| 15 | g.48445576C>A | CA2628347667 | FBN1 | c.5789-72G>T (n.5789-72G>T) n.4463-72G>T c.788-72G>T (n.788-72G>T) c.*1552-72G>T (n.*1552-72G>T) c.1096-72G>T | gnomAD v4 |