OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48445379C>A | CA392339926 | FBN1 | c.5914G>T (p.Val1972Leu) n.4588G>T c.913G>T (p.Val305Leu) c.*1677G>T (n.*1677G>T) c.1221G>T n.34G>T | |
| 15 | g.48445379C>G | CA392339924 | FBN1 | c.5914G>C (p.Val1972Leu) n.4588G>C c.913G>C (p.Val305Leu) c.*1677G>C (n.*1677G>C) c.1221G>C n.34G>C | |
| 15 | g.48445379C>T | CA392339925 | FBN1 | c.5914G>A (p.Val1972Met) n.4588G>A c.913G>A (p.Val305Met) c.*1677G>A (n.*1677G>A) c.1221G>A n.34G>A | gnomAD v4 |
| 15 | g.48445380A>C | CA392339927 | FBN1 | c.5913T>G (p.Cys1971Trp) n.4587T>G c.912T>G (p.Cys304Trp) c.*1676T>G (n.*1676T>G) c.1220T>G n.33T>G | |
| 15 | g.48445380A>G | CA490022236 | FBN1 | c.5913T>C (p.Cys1971=) n.4587T>C c.912T>C (p.Cys304=) c.*1676T>C (n.*1676T>C) c.1220T>C n.33T>C | |
| 15 | g.48445380A>T | CA392339928 | FBN1 | c.5913T>A (p.Cys1971Ter) n.4587T>A c.912T>A (p.Cys304Ter) c.*1676T>A (n.*1676T>A) c.1220T>A n.33T>A | |
| 15 | g.48445380_48445381delinsAC | CA2175492299 | FBN1 | c.5912_5913delinsGT (p.Cys1971=) n.4586_4587delinsGT c.911_912delinsGT (p.Cys304=) c.*1675_*1676delinsGT (n.*1675_*1676delinsGT) c.1219_1220delinsGT n.32_33delinsGT | |
| 15 | g.48445380_48445395delinsACAGGTCCTCCCATCT | CA2175492297 | FBN1 | c.5898_5913delinsAGATGGGAGGACCTGT (p.Pro1966=) n.4572_4587delinsAGATGGGAGGACCTGT c.897_912delinsAGATGGGAGGACCTGT (p.Pro299=) c.*1661_*1676delinsAGATGGGAGGACCTGT (n.*1661_*1676delinsAGATGGGAGGACCTGT) c.1205_1220delinsAGATGGGAGGACCTGT n.18_33delinsAGATGGGAGGACCTGT | |
| 15 | g.48445381del | CA916082418 | FBN1 | c.5912del (p.Cys1971LeufsTer9) n.4586del c.911del (p.Cys304LeufsTer9) c.*1675del (n.*1675del) c.1219del n.32del | ClinVar dbSNP |
| 15 | g.48445381C>A | CA392339929 | FBN1 | c.5912G>T (p.Cys1971Phe) n.4586G>T c.911G>T (p.Cys304Phe) c.*1675G>T (n.*1675G>T) c.1219G>T n.32G>T | ClinVar |
| 15 | g.48445381C= | CA2175492307 | FBN1 | c.5912G= (p.Cys1971=) n.4586G= c.911G= (p.Cys304=) c.*1675G= (n.*1675G=) c.1219G= n.32G= | |
| 15 | g.48445381C>G | CA269532803 | FBN1 | c.5912G>C (p.Cys1971Ser) n.4586G>C c.911G>C (p.Cys304Ser) c.*1675G>C (n.*1675G>C) c.1219G>C n.32G>C | dbSNP |
| 15 | g.48445381C>T | CA392339930 | FBN1 | c.5912G>A (p.Cys1971Tyr) n.4586G>A c.911G>A (p.Cys304Tyr) c.*1675G>A (n.*1675G>A) c.1219G>A n.32G>A | ClinVar dbSNP |
| 15 | g.48445381_48445395del | CA658683890 | FBN1 | c.5898_5912del (p.Asp1967_Cys1971del) n.4572_4586del c.897_911del (p.Asp300_Cys304del) c.*1661_*1675del (n.*1661_*1675del) c.1205_1219del n.18_32del | ClinVar dbSNP |
| 15 | g.48445382A= | CA2175492316 | FBN1 | c.5911T= (p.Cys1971=) n.4585T= c.910T= (p.Cys304=) c.*1674T= (n.*1674T=) c.1218T= n.31T= | |
| 15 | g.48445382A>C | CA392339931 | FBN1 | c.5911T>G (p.Cys1971Gly) n.4585T>G c.910T>G (p.Cys304Gly) c.*1674T>G (n.*1674T>G) c.1218T>G n.31T>G | ClinVar dbSNP |
| 15 | g.48445382A>G | CA392339933 | FBN1 | c.5911T>C (p.Cys1971Arg) n.4585T>C c.910T>C (p.Cys304Arg) c.*1674T>C (n.*1674T>C) c.1218T>C n.31T>C | ClinVar dbSNP |
| 15 | g.48445382A>T | CA392339932 | FBN1 | c.5911T>A (p.Cys1971Ser) n.4585T>A c.910T>A (p.Cys304Ser) c.*1674T>A (n.*1674T>A) c.1218T>A n.31T>A | |
| 15 | g.48445383G>A | CA490022250 | FBN1 | c.5910C>T (p.Thr1970=) n.4584C>T c.909C>T (p.Thr303=) c.*1673C>T (n.*1673C>T) c.1217C>T n.30C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48445383G>C | CA490022248 | FBN1 | c.5910C>G (p.Thr1970=) n.4584C>G c.909C>G (p.Thr303=) c.*1673C>G (n.*1673C>G) c.1217C>G n.30C>G | |
| 15 | g.48445383G= | CA2175492321 | FBN1 | c.5910C= (p.Thr1970=) n.4584C= c.909C= (p.Thr303=) c.*1673C= (n.*1673C=) c.1217C= n.30C= | |
| 15 | g.48445383G>T | CA490022246 | FBN1 | c.5910C>A (p.Thr1970=) n.4584C>A c.909C>A (p.Thr303=) c.*1673C>A (n.*1673C>A) c.1217C>A n.30C>A | |
| 15 | g.48445384G>A | CA392339934 | FBN1 | c.5909C>T (p.Thr1970Ile) n.4583C>T c.908C>T (p.Thr303Ile) c.*1672C>T (n.*1672C>T) c.1216C>T n.29C>T | |
| 15 | g.48445384G>C | CA392339935 | FBN1 | c.5909C>G (p.Thr1970Ser) n.4583C>G c.908C>G (p.Thr303Ser) c.*1672C>G (n.*1672C>G) c.1216C>G n.29C>G | |
| 15 | g.48445384G>T | CA392339936 | FBN1 | c.5909C>A (p.Thr1970Asn) n.4583C>A c.908C>A (p.Thr303Asn) c.*1672C>A (n.*1672C>A) c.1216C>A n.29C>A | |
| 15 | g.48445385T>A | CA392339937 | FBN1 | c.5908A>T (p.Thr1970Ser) n.4582A>T c.907A>T (p.Thr303Ser) c.*1671A>T (n.*1671A>T) c.1215A>T n.28A>T | gnomAD v4 |
| 15 | g.48445385T>C | CA392339938 | FBN1 | c.5908A>G (p.Thr1970Ala) n.4582A>G c.907A>G (p.Thr303Ala) c.*1671A>G (n.*1671A>G) c.1215A>G n.28A>G | |
| 15 | g.48445385T>G | CA392339939 | FBN1 | c.5908A>C (p.Thr1970Pro) n.4582A>C c.907A>C (p.Thr303Pro) c.*1671A>C (n.*1671A>C) c.1215A>C n.28A>C | |
| 15 | g.48445386C>A | CA392339940 | FBN1 | c.5907G>T (p.Arg1969Ser) n.4581G>T c.906G>T (p.Arg302Ser) c.*1670G>T (n.*1670G>T) c.1214G>T n.27G>T | |
| 15 | g.48445386C>G | CA392339941 | FBN1 | c.5907G>C (p.Arg1969Ser) n.4581G>C c.906G>C (p.Arg302Ser) c.*1670G>C (n.*1670G>C) c.1214G>C n.27G>C | |
| 15 | g.48445386C>T | CA490022263 | FBN1 | c.5907G>A (p.Arg1969=) n.4581G>A c.906G>A (p.Arg302=) c.*1670G>A (n.*1670G>A) c.1214G>A n.27G>A | |
| 15 | g.48445387C>A | CA392339942 | FBN1 | c.5906G>T (p.Arg1969Met) n.4580G>T c.905G>T (p.Arg302Met) c.*1669G>T (n.*1669G>T) c.1213G>T n.26G>T | ClinVar |
| 15 | g.48445387C>G | CA392339943 | FBN1 | c.5906G>C (p.Arg1969Thr) n.4580G>C c.905G>C (p.Arg302Thr) c.*1669G>C (n.*1669G>C) c.1213G>C n.26G>C | |
| 15 | g.48445387C>T | CA392339944 | FBN1 | c.5906G>A (p.Arg1969Lys) n.4580G>A c.905G>A (p.Arg302Lys) c.*1669G>A (n.*1669G>A) c.1213G>A n.26G>A | |
| 15 | g.48445387_48445388delinsCT | CA2175492326 | FBN1 | c.5905_5906delinsAG (p.Arg1969=) n.4579_4580delinsAG c.904_905delinsAG (p.Arg302=) c.*1668_*1669delinsAG (n.*1668_*1669delinsAG) c.1212_1213delinsAG n.25_26delinsAG | |
| 15 | g.48445388_48445389dup | CA2695220222 | FBN1 | c.5905_5906dup (p.Thr1970GlyfsTer11) n.4579_4580dup c.904_905dup (p.Thr303GlyfsTer11) c.*1668_*1669dup (n.*1668_*1669dup) c.1212_1213dup n.25_26dup | |
| 15 | g.48445388del | CA913190350 | FBN1 | c.5905del (p.Arg1969GlyfsTer11) n.4579del c.904del (p.Arg302GlyfsTer11) c.*1668del (n.*1668del) c.1212del n.25del | ClinVar dbSNP |
| 15 | g.48445388T>A | CA392339945 | FBN1 | c.5905A>T (p.Arg1969Trp) n.4579A>T c.904A>T (p.Arg302Trp) c.*1668A>T (n.*1668A>T) c.1212A>T n.25A>T | |
| 15 | g.48445388T>C | CA392339946 | FBN1 | c.5905A>G (p.Arg1969Gly) n.4579A>G c.904A>G (p.Arg302Gly) c.*1668A>G (n.*1668A>G) c.1212A>G n.25A>G | |
| 15 | g.48445388T>G | CA490022273 | FBN1 | c.5905A>C (p.Arg1969=) n.4579A>C c.904A>C (p.Arg302=) c.*1668A>C (n.*1668A>C) c.1212A>C n.25A>C | |
| 15 | g.48445389C>A | CA490022280 | FBN1 | c.5904G>T (p.Gly1968=) n.4578G>T c.903G>T (p.Gly301=) c.*1667G>T (n.*1667G>T) c.1211G>T n.24G>T | gnomAD v4 |
| 15 | g.48445389C>G | CA490022277 | FBN1 | c.5904G>C (p.Gly1968=) n.4578G>C c.903G>C (p.Gly301=) c.*1667G>C (n.*1667G>C) c.1211G>C n.24G>C | gnomAD v4 |
| 15 | g.48445389C>T | CA490022275 | FBN1 | c.5904G>A (p.Gly1968=) n.4578G>A c.903G>A (p.Gly301=) c.*1667G>A (n.*1667G>A) c.1211G>A n.24G>A | |
| 15 | g.48445390C>A | CA392339947 | FBN1 | c.5903G>T (p.Gly1968Val) n.4577G>T c.902G>T (p.Gly301Val) c.*1666G>T (n.*1666G>T) c.1210G>T n.23G>T | |
| 15 | g.48445390C= | CA2175492333 | FBN1 | c.5903G= (p.Gly1968=) n.4577G= c.902G= (p.Gly301=) c.*1666G= (n.*1666G=) c.1210G= n.23G= | |
| 15 | g.48445390C>G | CA392339949 | FBN1 | c.5903G>C (p.Gly1968Ala) n.4577G>C c.902G>C (p.Gly301Ala) c.*1666G>C (n.*1666G>C) c.1210G>C n.23G>C | |
| 15 | g.48445390C>T | CA392339948 | FBN1 | c.5903G>A (p.Gly1968Glu) n.4577G>A c.902G>A (p.Gly301Glu) c.*1666G>A (n.*1666G>A) c.1210G>A n.23G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445391C>A | CA392339950 | FBN1 | c.5902G>T (p.Gly1968Trp) n.4576G>T c.901G>T (p.Gly301Trp) c.*1665G>T (n.*1665G>T) c.1209G>T n.22G>T | |
| 15 | g.48445391C= | CA2175492356 | FBN1 | c.5902G= (p.Gly1968=) n.4576G= c.901G= (p.Gly301=) c.*1665G= (n.*1665G=) c.1209G= n.22G= | |
| 15 | g.48445391C>G | CA392339951 | FBN1 | c.5902G>C (p.Gly1968Arg) n.4576G>C c.901G>C (p.Gly301Arg) c.*1665G>C (n.*1665G>C) c.1209G>C n.22G>C | |
| 15 | g.48445391C>T | CA055795 | FBN1 | c.5902G>A (p.Gly1968Arg) n.4576G>A c.901G>A (p.Gly301Arg) c.*1665G>A (n.*1665G>A) c.1209G>A n.22G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445392A= | CA2175492364 | FBN1 | c.5901T= (p.Asp1967=) n.4575T= c.900T= (p.Asp300=) c.*1664T= (n.*1664T=) c.1208T= n.21T= | |
| 15 | g.48445392A>C | CA392339952 | FBN1 | c.5901T>G (p.Asp1967Glu) n.4575T>G c.900T>G (p.Asp300Glu) c.*1664T>G (n.*1664T>G) c.1208T>G n.21T>G | gnomAD v4 |
| 15 | g.48445392A>G | CA490022289 | FBN1 | c.5901T>C (p.Asp1967=) n.4575T>C c.900T>C (p.Asp300=) c.*1664T>C (n.*1664T>C) c.1208T>C n.21T>C | |
| 15 | g.48445392A>T | CA392339953 | FBN1 | c.5901T>A (p.Asp1967Glu) n.4575T>A c.900T>A (p.Asp300Glu) c.*1664T>A (n.*1664T>A) c.1208T>A n.21T>A | ClinVar dbSNP |
| 15 | g.48445393T>A | CA392339954 | FBN1 | c.5900A>T (p.Asp1967Val) n.4574A>T c.899A>T (p.Asp300Val) c.*1663A>T (n.*1663A>T) c.1207A>T n.20A>T | |
| 15 | g.48445393T>C | CA392339955 | FBN1 | c.5900A>G (p.Asp1967Gly) n.4574A>G c.899A>G (p.Asp300Gly) c.*1663A>G (n.*1663A>G) c.1207A>G n.20A>G | gnomAD v4 |
| 15 | g.48445393T>G | CA392339956 | FBN1 | c.5900A>C (p.Asp1967Ala) n.4574A>C c.899A>C (p.Asp300Ala) c.*1663A>C (n.*1663A>C) c.1207A>C n.20A>C | |
| 15 | g.48445394C>A | CA055790 | FBN1 | c.5899G>T (p.Asp1967Tyr) n.4573G>T c.898G>T (p.Asp300Tyr) c.*1662G>T (n.*1662G>T) c.1206G>T n.19G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445394C= | CA2175492368 | FBN1 | c.5899G= (p.Asp1967=) n.4573G= c.898G= (p.Asp300=) c.*1662G= (n.*1662G=) c.1206G= n.19G= | |
| 15 | g.48445394C>G | CA392339957 | FBN1 | c.5899G>C (p.Asp1967His) n.4573G>C c.898G>C (p.Asp300His) c.*1662G>C (n.*1662G>C) c.1206G>C n.19G>C | |
| 15 | g.48445394C>T | CA392339958 | FBN1 | c.5899G>A (p.Asp1967Asn) n.4573G>A c.898G>A (p.Asp300Asn) c.*1662G>A (n.*1662G>A) c.1206G>A n.19G>A | |
| 15 | g.48445394_48445395delinsCT | CA2175492371 | FBN1 | c.5898_5899delinsAG (p.Pro1966=) n.4572_4573delinsAG c.897_898delinsAG (p.Pro299=) c.*1661_*1662delinsAG (n.*1661_*1662delinsAG) c.1205_1206delinsAG n.18_19delinsAG | |
| 15 | g.48445395del | CA658824292 | FBN1 | c.5898del (p.Asp1967MetfsTer13) n.4572del c.897del (p.Asp300MetfsTer13) c.*1661del (n.*1661del) c.1205del n.18del | ClinVar dbSNP |
| 15 | g.48445395T>A | CA490022302 | FBN1 | c.5898A>T (p.Pro1966=) n.4572A>T c.897A>T (p.Pro299=) c.*1661A>T (n.*1661A>T) c.1205A>T n.18A>T | |
| 15 | g.48445395T>C | CA055781 | FBN1 | c.5898A>G (p.Pro1966=) n.4572A>G c.897A>G (p.Pro299=) c.*1661A>G (n.*1661A>G) c.1205A>G n.18A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445395T>G | CA490022305 | FBN1 | c.5898A>C (p.Pro1966=) n.4572A>C c.897A>C (p.Pro299=) c.*1661A>C (n.*1661A>C) c.1205A>C n.18A>C | |
| 15 | g.48445395T= | CA2175492383 | FBN1 | c.5898A= (p.Pro1966=) n.4572A= c.897A= (p.Pro299=) c.*1661A= (n.*1661A=) c.1205A= n.18A= | |
| 15 | g.48445396G>A | CA392339961 | FBN1 | c.5897C>T (p.Pro1966Leu) n.4571C>T c.896C>T (p.Pro299Leu) c.*1660C>T (n.*1660C>T) c.1204C>T n.17C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48445396G>C | CA392339960 | FBN1 | c.5897C>G (p.Pro1966Arg) n.4571C>G c.896C>G (p.Pro299Arg) c.*1660C>G (n.*1660C>G) c.1204C>G n.17C>G | |
| 15 | g.48445396G= | CA2175492384 | FBN1 | c.5897C= (p.Pro1966=) n.4571C= c.896C= (p.Pro299=) c.*1660C= (n.*1660C=) c.1204C= n.17C= | |
| 15 | g.48445396G>T | CA392339959 | FBN1 | c.5897C>A (p.Pro1966Gln) n.4571C>A c.896C>A (p.Pro299Gln) c.*1660C>A (n.*1660C>A) c.1204C>A n.17C>A | |
| 15 | g.48445397G>A | CA392339962 | FBN1 | c.5896C>T (p.Pro1966Ser) n.4570C>T c.895C>T (p.Pro299Ser) c.*1659C>T (n.*1659C>T) c.1203C>T n.16C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445397G>C | CA392339963 | FBN1 | c.5896C>G (p.Pro1966Ala) n.4570C>G c.895C>G (p.Pro299Ala) c.*1659C>G (n.*1659C>G) c.1203C>G n.16C>G | ClinVar |
| 15 | g.48445397G>T | CA392339964 | FBN1 | c.5896C>A (p.Pro1966Thr) n.4570C>A c.895C>A (p.Pro299Thr) c.*1659C>A (n.*1659C>A) c.1203C>A n.16C>A | |
| 15 | g.48445398A>C | CA490022315 | FBN1 | c.5895T>G (p.Ala1965=) n.4569T>G c.894T>G (p.Ala298=) c.*1658T>G (n.*1658T>G) c.1202T>G n.15T>G | |
| 15 | g.48445398A>G | CA490022318 | FBN1 | c.5895T>C (p.Ala1965=) n.4569T>C c.894T>C (p.Ala298=) c.*1658T>C (n.*1658T>C) c.1202T>C n.15T>C | |
| 15 | g.48445398A>T | CA490022321 | FBN1 | c.5895T>A (p.Ala1965=) n.4569T>A c.894T>A (p.Ala298=) c.*1658T>A (n.*1658T>A) c.1202T>A n.15T>A | |
| 15 | g.48445402_48445412del | CA2695220223 | FBN1 | c.5885_5895del (p.Tyr1962SerfsTer11) n.4559_4569del c.884_894del (p.Tyr295SerfsTer11) c.*1648_*1658del (n.*1648_*1658del) c.1192_1202del n.5_15del | |
| 15 | g.48445399G>A | CA392339965 | FBN1 | c.5894C>T (p.Ala1965Val) n.4568C>T c.893C>T (p.Ala298Val) c.*1657C>T (n.*1657C>T) c.1201C>T n.14C>T | gnomAD v4 |
| 15 | g.48445399G>C | CA392339966 | FBN1 | c.5894C>G (p.Ala1965Gly) n.4568C>G c.893C>G (p.Ala298Gly) c.*1657C>G (n.*1657C>G) c.1201C>G n.14C>G | ClinVar |
| 15 | g.48445399G>T | CA392339967 | FBN1 | c.5894C>A (p.Ala1965Asp) n.4568C>A c.893C>A (p.Ala298Asp) c.*1657C>A (n.*1657C>A) c.1201C>A n.14C>A | |
| 15 | g.48445399_48445400delinsGC | CA2175492387 | FBN1 | c.5893_5894delinsGC (p.Ala1965=) n.4567_4568delinsGC c.892_893delinsGC (p.Ala298=) c.*1656_*1657delinsGC (n.*1656_*1657delinsGC) c.1200_1201delinsGC n.13_14delinsGC | |
| 15 | g.48445400C>A | CA392339968 | FBN1 | c.5893G>T (p.Ala1965Ser) n.4567G>T c.892G>T (p.Ala298Ser) c.*1656G>T (n.*1656G>T) c.1200G>T n.13G>T | |
| 15 | g.48445400C>G | CA392339969 | FBN1 | c.5893G>C (p.Ala1965Pro) n.4567G>C c.892G>C (p.Ala298Pro) c.*1656G>C (n.*1656G>C) c.1200G>C n.13G>C | |
| 15 | g.48445400C>T | CA392339970 | FBN1 | c.5893G>A (p.Ala1965Thr) n.4567G>A c.892G>A (p.Ala298Thr) c.*1656G>A (n.*1656G>A) c.1200G>A n.13G>A | |
| 15 | g.48445401del | CA016157 | FBN1 | c.5893del (p.Ala1965LeufsTer15) n.4567del c.892del (p.Ala298LeufsTer15) c.*1656del (n.*1656del) c.1200del n.13del | ClinVar dbSNP |
| 15 | g.48445401C>A | CA490022337 | FBN1 | c.5892G>T (p.Val1964=) n.4566G>T c.891G>T (p.Val297=) c.*1655G>T (n.*1655G>T) c.1199G>T n.12G>T | |
| 15 | g.48445401C>G | CA490022339 | FBN1 | c.5892G>C (p.Val1964=) n.4566G>C c.891G>C (p.Val297=) c.*1655G>C (n.*1655G>C) c.1199G>C n.12G>C | |
| 15 | g.48445401C>T | CA490022340 | FBN1 | c.5892G>A (p.Val1964=) n.4566G>A c.891G>A (p.Val297=) c.*1655G>A (n.*1655G>A) c.1199G>A n.12G>A | ClinVar |
| 15 | g.48445402A= | CA2175492398 | FBN1 | c.5891T= (p.Val1964=) n.4565T= c.890T= (p.Val297=) c.*1654T= (n.*1654T=) c.1198T= n.11T= | |
| 15 | g.48445402A>C | CA392339971 | FBN1 | c.5891T>G (p.Val1964Gly) n.4565T>G c.890T>G (p.Val297Gly) c.*1654T>G (n.*1654T>G) c.1198T>G n.11T>G | |
| 15 | g.48445402A>G | CA392339972 | FBN1 | c.5891T>C (p.Val1964Ala) n.4565T>C c.890T>C (p.Val297Ala) c.*1654T>C (n.*1654T>C) c.1198T>C n.11T>C | ClinVar dbSNP |
| 15 | g.48445402A>T | CA392339973 | FBN1 | c.5891T>A (p.Val1964Glu) n.4565T>A c.890T>A (p.Val297Glu) c.*1654T>A (n.*1654T>A) c.1198T>A n.11T>A | |
| 15 | g.48445403C>A | CA392339975 | FBN1 | c.5890G>T (p.Val1964Leu) n.4564G>T c.889G>T (p.Val297Leu) c.*1653G>T (n.*1653G>T) c.1197G>T n.10G>T | gnomAD v4 |
| 15 | g.48445403C>G | CA392339976 | FBN1 | c.5890G>C (p.Val1964Leu) n.4564G>C c.889G>C (p.Val297Leu) c.*1653G>C (n.*1653G>C) c.1197G>C n.10G>C | |
| 15 | g.48445403C>T | CA392339974 | FBN1 | c.5890G>A (p.Val1964Met) n.4564G>A c.889G>A (p.Val297Met) c.*1653G>A (n.*1653G>A) c.1197G>A n.10G>A | gnomAD v4 |
| 15 | g.48445404C>A | CA392339977 | FBN1 | c.5889G>T (p.Glu1963Asp) n.4563G>T c.888G>T (p.Glu296Asp) c.*1652G>T (n.*1652G>T) c.1196G>T n.9G>T | |
| 15 | g.48445404C>G | CA392339978 | FBN1 | c.5889G>C (p.Glu1963Asp) n.4563G>C c.888G>C (p.Glu296Asp) c.*1652G>C (n.*1652G>C) c.1196G>C n.9G>C | |
| 15 | g.48445404C>T | CA490022349 | FBN1 | c.5889G>A (p.Glu1963=) n.4563G>A c.888G>A (p.Glu296=) c.*1652G>A (n.*1652G>A) c.1196G>A n.9G>A | |
| 15 | g.48445404_48445405delinsCT | CA2175492406 | FBN1 | c.5888_5889delinsAG (p.Glu1963=) n.4562_4563delinsAG c.887_888delinsAG (p.Glu296=) c.*1651_*1652delinsAG (n.*1651_*1652delinsAG) c.1195_1196delinsAG n.8_9delinsAG | |
| 15 | g.48445405del | CA016147 | FBN1 | c.5888del (p.Glu1963GlyfsTer17) n.4562del c.887del (p.Glu296GlyfsTer17) c.*1651del (n.*1651del) c.1195del n.8del | ClinVar dbSNP |
| 15 | g.48445405T>A | CA392339979 | FBN1 | c.5888A>T (p.Glu1963Val) n.4562A>T c.887A>T (p.Glu296Val) c.*1651A>T (n.*1651A>T) c.1195A>T n.8A>T | |
| 15 | g.48445405T>C | CA392339980 | FBN1 | c.5888A>G (p.Glu1963Gly) n.4562A>G c.887A>G (p.Glu296Gly) c.*1651A>G (n.*1651A>G) c.1195A>G n.8A>G | |
| 15 | g.48445405T>G | CA392339981 | FBN1 | c.5888A>C (p.Glu1963Ala) n.4562A>C c.887A>C (p.Glu296Ala) c.*1651A>C (n.*1651A>C) c.1195A>C n.8A>C | |
| 15 | g.48445406C>A | CA392339982 | FBN1 | c.5887G>T (p.Glu1963Ter) n.4561G>T c.886G>T (p.Glu296Ter) c.*1650G>T (n.*1650G>T) c.1194G>T n.7G>T | |
| 15 | g.48445406C= | CA2175492419 | FBN1 | c.5887G= (p.Glu1963=) n.4561G= c.886G= (p.Glu296=) c.*1650G= (n.*1650G=) c.1194G= n.7G= | |
| 15 | g.48445406C>G | CA392339983 | FBN1 | c.5887G>C (p.Glu1963Gln) n.4561G>C c.886G>C (p.Glu296Gln) c.*1650G>C (n.*1650G>C) c.1194G>C n.7G>C | |
| 15 | g.48445406C>T | CA392339984 | FBN1 | c.5887G>A (p.Glu1963Lys) n.4561G>A c.886G>A (p.Glu296Lys) c.*1650G>A (n.*1650G>A) c.1194G>A n.7G>A | dbSNP gnomAD v4 |
| 15 | g.48445406_48445408delinsCAT | CA2175492416 | FBN1 | c.5885_5887delinsATG (p.Tyr1962=) n.4559_4561delinsATG c.884_886delinsATG (p.Tyr295=) c.*1648_*1650delinsATG (n.*1648_*1650delinsATG) c.1192_1194delinsATG n.5_7delinsATG | |
| 15 | g.48445407A>C | CA392339985 | FBN1 | c.5886T>G (p.Tyr1962Ter) n.4560T>G c.885T>G (p.Tyr295Ter) c.*1649T>G (n.*1649T>G) c.1193T>G n.6T>G | gnomAD v4 |
| 15 | g.48445407A>G | CA490022365 | FBN1 | c.5886T>C (p.Tyr1962=) n.4560T>C c.885T>C (p.Tyr295=) c.*1649T>C (n.*1649T>C) c.1193T>C n.6T>C | |
| 15 | g.48445407A>T | CA392339986 | FBN1 | c.5886T>A (p.Tyr1962Ter) n.4560T>A c.885T>A (p.Tyr295Ter) c.*1649T>A (n.*1649T>A) c.1193T>A n.6T>A | |
| 15 | g.48445408_48445409del | CA055770 | FBN1 | c.5885_5886del (p.Tyr1962Ter) n.4559_4560del c.884_885del (p.Tyr295Ter) c.*1648_*1649del (n.*1648_*1649del) c.1192_1193del n.5_6del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445408del | CA2695220225 | FBN1 | c.5885del (p.Tyr1962LeufsTer18) n.4559del c.884del (p.Tyr295LeufsTer18) c.*1648del (n.*1648del) c.1192del n.5del | |
| 15 | g.48445408T>A | CA392339989 | FBN1 | c.5885A>T (p.Tyr1962Phe) n.4559A>T c.884A>T (p.Tyr295Phe) c.*1648A>T (n.*1648A>T) c.1192A>T n.5A>T | |
| 15 | g.48445408T>C | CA392339987 | FBN1 | c.5885A>G (p.Tyr1962Cys) n.4559A>G c.884A>G (p.Tyr295Cys) c.*1648A>G (n.*1648A>G) c.1192A>G n.5A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445408T>G | CA392339988 | FBN1 | c.5885A>C (p.Tyr1962Ser) n.4559A>C c.884A>C (p.Tyr295Ser) c.*1648A>C (n.*1648A>C) c.1192A>C n.5A>C | gnomAD v4 |
| 15 | g.48445408T= | CA2175492425 | FBN1 | c.5885A= (p.Tyr1962=) n.4559A= c.884A= (p.Tyr295=) c.*1648A= (n.*1648A=) c.1192A= n.5A= | |
| 15 | g.48445408dup | CA2580089685 | FBN1 | c.5885dup (p.Tyr1962Ter) n.4559dup c.884dup (p.Tyr295Ter) c.*1648dup (n.*1648dup) c.1192dup n.5dup | ClinVar |
| 15 | g.48445409A= | CA2175492430 | FBN1 | c.5884T= (p.Tyr1962=) n.4558T= c.883T= (p.Tyr295=) c.*1647T= (n.*1647T=) c.1191T= n.4T= | |
| 15 | g.48445409A>C | CA392339990 | FBN1 | c.5884T>G (p.Tyr1962Asp) n.4558T>G c.883T>G (p.Tyr295Asp) c.*1647T>G (n.*1647T>G) c.1191T>G n.4T>G | |
| 15 | g.48445409A>G | CA392339991 | FBN1 | c.5884T>C (p.Tyr1962His) n.4558T>C c.883T>C (p.Tyr295His) c.*1647T>C (n.*1647T>C) c.1191T>C n.4T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445409A>T | CA392339992 | FBN1 | c.5884T>A (p.Tyr1962Asn) n.4558T>A c.883T>A (p.Tyr295Asn) c.*1647T>A (n.*1647T>A) c.1191T>A n.4T>A | |
| 15 | g.48445410G>A | CA490022376 | FBN1 | c.5883C>T (p.Gly1961=) n.4557C>T c.882C>T (p.Gly294=) c.*1646C>T (n.*1646C>T) c.1190C>T n.3C>T | |
| 15 | g.48445410G>C | CA490022380 | FBN1 | c.5883C>G (p.Gly1961=) n.4557C>G c.882C>G (p.Gly294=) c.*1646C>G (n.*1646C>G) c.1190C>G n.3C>G | |
| 15 | g.48445410G>T | CA490022378 | FBN1 | c.5883C>A (p.Gly1961=) n.4557C>A c.882C>A (p.Gly294=) c.*1646C>A (n.*1646C>A) c.1190C>A n.3C>A | |
| 15 | g.48445411C>A | CA055767 | FBN1 | c.5882G>T (p.Gly1961Val) n.4556G>T c.881G>T (p.Gly294Val) c.*1645G>T (n.*1645G>T) c.1189G>T n.2G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445411C= | CA2175492434 | FBN1 | c.5882G= (p.Gly1961=) n.4556G= c.881G= (p.Gly294=) c.*1645G= (n.*1645G=) c.1189G= n.2G= | |
| 15 | g.48445411C>G | CA392339993 | FBN1 | c.5882G>C (p.Gly1961Ala) n.4556G>C c.881G>C (p.Gly294Ala) c.*1645G>C (n.*1645G>C) c.1189G>C n.2G>C | |
| 15 | g.48445411C>T | CA392339994 | FBN1 | c.5882G>A (p.Gly1961Asp) n.4556G>A c.881G>A (p.Gly294Asp) c.*1645G>A (n.*1645G>A) c.1189G>A n.2G>A | |
| 15 | g.48445412C>A | CA392339995 | FBN1 | c.5881G>T (p.Gly1961Cys) n.4555G>T c.880G>T (p.Gly294Cys) c.*1644G>T (n.*1644G>T) c.1188G>T n.1G>T | |
| 15 | g.48445412C>G | CA392339996 | FBN1 | c.5881G>C (p.Gly1961Arg) n.4555G>C c.880G>C (p.Gly294Arg) c.*1644G>C (n.*1644G>C) c.1188G>C n.1G>C | |
| 15 | g.48445412C>T | CA392339997 | FBN1 | c.5881G>A (p.Gly1961Ser) n.4555G>A c.880G>A (p.Gly294Ser) c.*1644G>A (n.*1644G>A) c.1188G>A n.1G>A | |
| 15 | g.48445413T>A | CA392339998 | FBN1 | c.5880A>T (p.Glu1960Asp) n.4554A>T c.879A>T (p.Glu293Asp) c.*1643A>T (n.*1643A>T) c.1187A>T | |
| 15 | g.48445413T>C | CA490022391 | FBN1 | c.5880A>G (p.Glu1960=) n.4554A>G c.879A>G (p.Glu293=) c.*1643A>G (n.*1643A>G) c.1187A>G | gnomAD v4 |
| 15 | g.48445413T>G | CA392339999 | FBN1 | c.5880A>C (p.Glu1960Asp) n.4554A>C c.879A>C (p.Glu293Asp) c.*1643A>C (n.*1643A>C) c.1187A>C | |
| 15 | g.48445414T>A | CA392340001 | FBN1 | c.5879A>T (p.Glu1960Val) n.4553A>T c.878A>T (p.Glu293Val) c.*1642A>T (n.*1642A>T) c.1186A>T | |
| 15 | g.48445414T>C | CA392340002 | FBN1 | c.5879A>G (p.Glu1960Gly) n.4553A>G c.878A>G (p.Glu293Gly) c.*1642A>G (n.*1642A>G) c.1186A>G | |
| 15 | g.48445414T>G | CA392340000 | FBN1 | c.5879A>C (p.Glu1960Ala) n.4553A>C c.878A>C (p.Glu293Ala) c.*1642A>C (n.*1642A>C) c.1186A>C | |
| 15 | g.48445415C>A | CA392340005 | FBN1 | c.5878G>T (p.Glu1960Ter) n.4552G>T c.877G>T (p.Glu293Ter) c.*1641G>T (n.*1641G>T) c.1185G>T | |
| 15 | g.48445415C>G | CA392340003 | FBN1 | c.5878G>C (p.Glu1960Gln) n.4552G>C c.877G>C (p.Glu293Gln) c.*1641G>C (n.*1641G>C) c.1185G>C | |
| 15 | g.48445415C>T | CA392340004 | FBN1 | c.5878G>A (p.Glu1960Lys) n.4552G>A c.877G>A (p.Glu293Lys) c.*1641G>A (n.*1641G>A) c.1185G>A | |
| 15 | g.48445416A= | CA2175492440 | FBN1 | c.5877T= (p.Asn1959=) n.4551T= c.876T= (p.Asn292=) c.*1640T= (n.*1640T=) c.1184T= | |
| 15 | g.48445416A>C | CA392340006 | FBN1 | c.5877T>G (p.Asn1959Lys) n.4551T>G c.876T>G (p.Asn292Lys) c.*1640T>G (n.*1640T>G) c.1184T>G | |
| 15 | g.48445416A>G | CA490022404 | FBN1 | c.5877T>C (p.Asn1959=) n.4551T>C c.876T>C (p.Asn292=) c.*1640T>C (n.*1640T>C) c.1184T>C | |
| 15 | g.48445416A>T | CA392340007 | FBN1 | c.5877T>A (p.Asn1959Lys) n.4551T>A c.876T>A (p.Asn292Lys) c.*1640T>A (n.*1640T>A) c.1184T>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445417T>A | CA392340008 | FBN1 | c.5876A>T (p.Asn1959Ile) n.4550A>T c.875A>T (p.Asn292Ile) c.*1639A>T (n.*1639A>T) c.1183A>T | |
| 15 | g.48445417T>C | CA055759 | FBN1 | c.5876A>G (p.Asn1959Ser) n.4550A>G c.875A>G (p.Asn292Ser) c.*1639A>G (n.*1639A>G) c.1183A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445417T>G | CA392340009 | FBN1 | c.5876A>C (p.Asn1959Thr) n.4550A>C c.875A>C (p.Asn292Thr) c.*1639A>C (n.*1639A>C) c.1183A>C | |
| 15 | g.48445417T= | CA2175492447 | FBN1 | c.5876A= (p.Asn1959=) n.4550A= c.875A= (p.Asn292=) c.*1639A= (n.*1639A=) c.1183A= | |
| 15 | g.48445418T>A | CA392340010 | FBN1 | c.5875A>T (p.Asn1959Tyr) n.4549A>T c.874A>T (p.Asn292Tyr) c.*1638A>T (n.*1638A>T) c.1182A>T | |
| 15 | g.48445418T>C | CA269532829 | FBN1 | c.5875A>G (p.Asn1959Asp) n.4549A>G c.874A>G (p.Asn292Asp) c.*1638A>G (n.*1638A>G) c.1182A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48445418T>G | CA392340011 | FBN1 | c.5875A>C (p.Asn1959His) n.4549A>C c.874A>C (p.Asn292His) c.*1638A>C (n.*1638A>C) c.1182A>C | ClinVar dbSNP |
| 15 | g.48445418T= | CA2175492453 | FBN1 | c.5875A= (p.Asn1959=) n.4549A= c.874A= (p.Asn292=) c.*1638A= (n.*1638A=) c.1182A= | |
| 15 | g.48445419G>A | CA490022418 | FBN1 | c.5874C>T (p.Cys1958=) n.4548C>T c.873C>T (p.Cys291=) c.*1637C>T (n.*1637C>T) c.1181C>T | gnomAD v4 |
| 15 | g.48445419G>C | CA392340012 | FBN1 | c.5874C>G (p.Cys1958Trp) n.4548C>G c.873C>G (p.Cys291Trp) c.*1637C>G (n.*1637C>G) c.1181C>G | |
| 15 | g.48445419G= | CA2175492461 | FBN1 | c.5874C= (p.Cys1958=) n.4548C= c.873C= (p.Cys291=) c.*1637C= (n.*1637C=) c.1181C= | |
| 15 | g.48445419G>T | CA392340013 | FBN1 | c.5874C>A (p.Cys1958Ter) n.4548C>A c.873C>A (p.Cys291Ter) c.*1637C>A (n.*1637C>A) c.1181C>A | ClinVar dbSNP |
| 15 | g.48445426_48445431del | CA2580612800 | FBN1 | c.5869_5874del (p.Gln1957_Cys1958del) n.4543_4548del c.868_873del (p.Gln290_Cys291del) c.*1632_*1637del (n.*1632_*1637del) c.1176_1181del | ClinVar |
| 15 | g.48445420C>A | CA392340015 | FBN1 | c.5873G>T (p.Cys1958Phe) n.4547G>T c.872G>T (p.Cys291Phe) c.*1636G>T (n.*1636G>T) c.1180G>T | |
| 15 | g.48445420C>G | CA392340016 | FBN1 | c.5873G>C (p.Cys1958Ser) n.4547G>C c.872G>C (p.Cys291Ser) c.*1636G>C (n.*1636G>C) c.1180G>C | |
| 15 | g.48445420C>T | CA392340014 | FBN1 | c.5873G>A (p.Cys1958Tyr) n.4547G>A c.872G>A (p.Cys291Tyr) c.*1636G>A (n.*1636G>A) c.1180G>A | ClinVar dbSNP |
| 15 | g.48445421A>C | CA392340017 | FBN1 | c.5872T>G (p.Cys1958Gly) n.4546T>G c.871T>G (p.Cys291Gly) c.*1635T>G (n.*1635T>G) c.1179T>G | |
| 15 | g.48445421A>G | CA392340018 | FBN1 | c.5872T>C (p.Cys1958Arg) n.4546T>C c.871T>C (p.Cys291Arg) c.*1635T>C (n.*1635T>C) c.1179T>C | |
| 15 | g.48445421A>T | CA392340019 | FBN1 | c.5872T>A (p.Cys1958Ser) n.4546T>A c.871T>A (p.Cys291Ser) c.*1635T>A (n.*1635T>A) c.1179T>A | ClinVar dbSNP |
| 15 | g.48445422C>A | CA392340020 | FBN1 | c.5871G>T (p.Gln1957His) n.4545G>T c.870G>T (p.Gln290His) c.*1634G>T (n.*1634G>T) c.1178G>T | |
| 15 | g.48445422C= | CA2175492465 | FBN1 | c.5871G= (p.Gln1957=) n.4545G= c.870G= (p.Gln290=) c.*1634G= (n.*1634G=) c.1178G= | |
| 15 | g.48445422C>G | CA392340021 | FBN1 | c.5871G>C (p.Gln1957His) n.4545G>C c.870G>C (p.Gln290His) c.*1634G>C (n.*1634G>C) c.1178G>C | dbSNP |
| 15 | g.48445422C>T | CA490022431 | FBN1 | c.5871G>A (p.Gln1957=) n.4545G>A c.870G>A (p.Gln290=) c.*1634G>A (n.*1634G>A) c.1178G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445423T>A | CA392340024 | FBN1 | c.5870A>T (p.Gln1957Leu) n.4544A>T c.869A>T (p.Gln290Leu) c.*1633A>T (n.*1633A>T) c.1177A>T | |
| 15 | g.48445423T>C | CA392340022 | FBN1 | c.5870A>G (p.Gln1957Arg) n.4544A>G c.869A>G (p.Gln290Arg) c.*1633A>G (n.*1633A>G) c.1177A>G | |
| 15 | g.48445423T>G | CA392340023 | FBN1 | c.5870A>C (p.Gln1957Pro) n.4544A>C c.869A>C (p.Gln290Pro) c.*1633A>C (n.*1633A>C) c.1177A>C | |
| 15 | g.48445424G>A | CA016139 | FBN1 | c.5869C>T (p.Gln1957Ter) n.4543C>T c.868C>T (p.Gln290Ter) c.*1632C>T (n.*1632C>T) c.1176C>T | ClinVar dbSNP |
| 15 | g.48445424G>C | CA392340025 | FBN1 | c.5869C>G (p.Gln1957Glu) n.4543C>G c.868C>G (p.Gln290Glu) c.*1632C>G (n.*1632C>G) c.1176C>G | gnomAD v4 |
| 15 | g.48445424G= | CA2175492466 | FBN1 | c.5869C= (p.Gln1957=) n.4543C= c.868C= (p.Gln290=) c.*1632C= (n.*1632C=) c.1176C= | |
| 15 | g.48445424G>T | CA392340026 | FBN1 | c.5869C>A (p.Gln1957Lys) n.4543C>A c.868C>A (p.Gln290Lys) c.*1632C>A (n.*1632C>A) c.1176C>A | |
| 15 | g.48445425G>A | CA490022444 | FBN1 | c.5868C>T (p.Cys1956=) n.4542C>T c.867C>T (p.Cys289=) c.*1631C>T (n.*1631C>T) c.1175C>T | |
| 15 | g.48445425G>C | CA392340027 | FBN1 | c.5868C>G (p.Cys1956Trp) n.4542C>G c.867C>G (p.Cys289Trp) c.*1631C>G (n.*1631C>G) c.1175C>G | |
| 15 | g.48445425G>T | CA392340028 | FBN1 | c.5868C>A (p.Cys1956Ter) n.4542C>A c.867C>A (p.Cys289Ter) c.*1631C>A (n.*1631C>A) c.1175C>A | |
| 15 | g.48445426C>A | CA392340031 | FBN1 | c.5867G>T (p.Cys1956Phe) n.4541G>T c.866G>T (p.Cys289Phe) c.*1630G>T (n.*1630G>T) c.1174G>T | |
| 15 | g.48445426C>G | CA392340030 | FBN1 | c.5867G>C (p.Cys1956Ser) n.4541G>C c.866G>C (p.Cys289Ser) c.*1630G>C (n.*1630G>C) c.1174G>C | |
| 15 | g.48445426C>T | CA392340029 | FBN1 | c.5867G>A (p.Cys1956Tyr) n.4541G>A c.866G>A (p.Cys289Tyr) c.*1630G>A (n.*1630G>A) c.1174G>A | |
| 15 | g.48445427A>C | CA392340032 | FBN1 | c.5866T>G (p.Cys1956Gly) n.4540T>G c.865T>G (p.Cys289Gly) c.*1629T>G (n.*1629T>G) c.1173T>G | |
| 15 | g.48445427A>G | CA392340033 | FBN1 | c.5866T>C (p.Cys1956Arg) n.4540T>C c.865T>C (p.Cys289Arg) c.*1629T>C (n.*1629T>C) c.1173T>C | |
| 15 | g.48445427A>T | CA392340034 | FBN1 | c.5866T>A (p.Cys1956Ser) n.4540T>A c.865T>A (p.Cys289Ser) c.*1629T>A (n.*1629T>A) c.1173T>A | |
| 15 | g.48445428C>A | CA392340035 | FBN1 | c.5865G>T (p.Gln1955His) n.4539G>T c.864G>T (p.Gln288His) c.*1628G>T (n.*1628G>T) c.1172G>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445428C= | CA2175492479 | FBN1 | c.5865G= (p.Gln1955=) n.4539G= c.864G= (p.Gln288=) c.*1628G= (n.*1628G=) c.1172G= | |
| 15 | g.48445428C>G | CA392340036 | FBN1 | c.5865G>C (p.Gln1955His) n.4539G>C c.864G>C (p.Gln288His) c.*1628G>C (n.*1628G>C) c.1172G>C | |
| 15 | g.48445428C>T | CA490022456 | FBN1 | c.5865G>A (p.Gln1955=) n.4539G>A c.864G>A (p.Gln288=) c.*1628G>A (n.*1628G>A) c.1172G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445429T>A | CA392340037 | FBN1 | c.5864A>T (p.Gln1955Leu) n.4538A>T c.863A>T (p.Gln288Leu) c.*1627A>T (n.*1627A>T) c.1171A>T | |
| 15 | g.48445429T>C | CA392340038 | FBN1 | c.5864A>G (p.Gln1955Arg) n.4538A>G c.863A>G (p.Gln288Arg) c.*1627A>G (n.*1627A>G) c.1171A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445429T>G | CA392340039 | FBN1 | c.5864A>C (p.Gln1955Pro) n.4538A>C c.863A>C (p.Gln288Pro) c.*1627A>C (n.*1627A>C) c.1171A>C | |
| 15 | g.48445429T= | CA2175492489 | FBN1 | c.5864A= (p.Gln1955=) n.4538A= c.863A= (p.Gln288=) c.*1627A= (n.*1627A=) c.1171A= | |
| 15 | g.48445429_48445430delinsTG | CA2175492488 | FBN1 | c.5863_5864delinsCA (p.Gln1955=) n.4537_4538delinsCA c.862_863delinsCA (p.Gln288=) c.*1626_*1627delinsCA (n.*1626_*1627delinsCA) c.1170_1171delinsCA | |
| 15 | g.48445430G>A | CA016131 | FBN1 | c.5863C>T (p.Gln1955Ter) n.4537C>T c.862C>T (p.Gln288Ter) c.*1626C>T (n.*1626C>T) c.1170C>T | ClinVar dbSNP |
| 15 | g.48445430G>C | CA392340040 | FBN1 | c.5863C>G (p.Gln1955Glu) n.4537C>G c.862C>G (p.Gln288Glu) c.*1626C>G (n.*1626C>G) c.1170C>G | |
| 15 | g.48445430G= | CA2175492501 | FBN1 | c.5863C= (p.Gln1955=) n.4537C= c.862C= (p.Gln288=) c.*1626C= (n.*1626C=) c.1170C= | |
| 15 | g.48445430G>T | CA392340041 | FBN1 | c.5863C>A (p.Gln1955Lys) n.4537C>A c.862C>A (p.Gln288Lys) c.*1626C>A (n.*1626C>A) c.1170C>A | |
| 15 | g.48445431del | CA658824293 | FBN1 | c.5863del (p.Gln1955SerfsTer25) n.4537del c.862del (p.Gln288SerfsTer25) c.*1626del (n.*1626del) c.1170del | ClinVar dbSNP |
| 15 | g.48445430_48445433dup | CA916082419 | FBN1 | c.5860_5863dup (p.Gln1955LeufsTer7) n.4534_4537dup c.859_862dup (p.Gln288LeufsTer7) c.*1623_*1626dup (n.*1623_*1626dup) c.1167_1170dup | ClinVar dbSNP |
| 15 | g.48445431G>A | CA490022466 | FBN1 | c.5862C>T (p.Phe1954=) n.4536C>T c.861C>T (p.Phe287=) c.*1625C>T (n.*1625C>T) c.1169C>T | |
| 15 | g.48445431G>C | CA392340042 | FBN1 | c.5862C>G (p.Phe1954Leu) n.4536C>G c.861C>G (p.Phe287Leu) c.*1625C>G (n.*1625C>G) c.1169C>G | ClinVar dbSNP |
| 15 | g.48445431G= | CA2175492506 | FBN1 | c.5862C= (p.Phe1954=) n.4536C= c.861C= (p.Phe287=) c.*1625C= (n.*1625C=) c.1169C= | |
| 15 | g.48445431G>T | CA392340043 | FBN1 | c.5862C>A (p.Phe1954Leu) n.4536C>A c.861C>A (p.Phe287Leu) c.*1625C>A (n.*1625C>A) c.1169C>A | |
| 15 | g.48445431_48445432delinsGA | CA2175492507 | FBN1 | c.5861_5862delinsTC (p.Phe1954=) n.4535_4536delinsTC c.860_861delinsTC (p.Phe287=) c.*1624_*1625delinsTC (n.*1624_*1625delinsTC) c.1168_1169delinsTC | |
| 15 | g.48445432A= | CA2175492513 | FBN1 | c.5861T= (p.Phe1954=) n.4535T= c.860T= (p.Phe287=) c.*1624T= (n.*1624T=) c.1168T= | |
| 15 | g.48445432A>C | CA016122 | FBN1 | c.5861T>G (p.Phe1954Cys) n.4535T>G c.860T>G (p.Phe287Cys) c.*1624T>G (n.*1624T>G) c.1168T>G | ClinVar dbSNP |
| 15 | g.48445432A>G | CA392340045 | FBN1 | c.5861T>C (p.Phe1954Ser) n.4535T>C c.860T>C (p.Phe287Ser) c.*1624T>C (n.*1624T>C) c.1168T>C | gnomAD v4 |
| 15 | g.48445432A>T | CA392340044 | FBN1 | c.5861T>A (p.Phe1954Tyr) n.4535T>A c.860T>A (p.Phe287Tyr) c.*1624T>A (n.*1624T>A) c.1168T>A | dbSNP |
| 15 | g.48445434del | CA658798343 | FBN1 | c.5861del (p.Phe1954SerfsTer26) n.4535del c.860del (p.Phe287SerfsTer26) c.*1624del (n.*1624del) c.1168del | ClinVar dbSNP |
| 15 | g.48445433A>C | CA392340046 | FBN1 | c.5860T>G (p.Phe1954Val) n.4534T>G c.859T>G (p.Phe287Val) c.*1623T>G (n.*1623T>G) c.1167T>G | |
| 15 | g.48445433A>G | CA392340047 | FBN1 | c.5860T>C (p.Phe1954Leu) n.4534T>C c.859T>C (p.Phe287Leu) c.*1623T>C (n.*1623T>C) c.1167T>C | |
| 15 | g.48445433A>T | CA392340048 | FBN1 | c.5860T>A (p.Phe1954Ile) n.4534T>A c.859T>A (p.Phe287Ile) c.*1623T>A (n.*1623T>A) c.1167T>A | |
| 15 | g.48445434A= | CA2175492524 | FBN1 | c.5859T= (p.Ser1953=) n.4533T= c.858T= (p.Ser286=) c.*1622T= (n.*1622T=) c.1166T= | |
| 15 | g.48445434A>C | CA490022484 | FBN1 | c.5859T>G (p.Ser1953=) n.4533T>G c.858T>G (p.Ser286=) c.*1622T>G (n.*1622T>G) c.1166T>G | |
| 15 | g.48445434A>G | CA490022486 | FBN1 | c.5859T>C (p.Ser1953=) n.4533T>C c.858T>C (p.Ser286=) c.*1622T>C (n.*1622T>C) c.1166T>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445434A>T | CA490022481 | FBN1 | c.5859T>A (p.Ser1953=) n.4533T>A c.858T>A (p.Ser286=) c.*1622T>A (n.*1622T>A) c.1166T>A | |
| 15 | g.48445435G>A | CA392340049 | FBN1 | c.5858C>T (p.Ser1953Phe) n.4532C>T c.857C>T (p.Ser286Phe) c.*1621C>T (n.*1621C>T) c.1165C>T | |
| 15 | g.48445435G>C | CA392340050 | FBN1 | c.5858C>G (p.Ser1953Cys) n.4532C>G c.857C>G (p.Ser286Cys) c.*1621C>G (n.*1621C>G) c.1165C>G | |
| 15 | g.48445435G= | CA2175492532 | FBN1 | c.5858C= (p.Ser1953=) n.4532C= c.857C= (p.Ser286=) c.*1621C= (n.*1621C=) c.1165C= | |
| 15 | g.48445435G>T | CA392340051 | FBN1 | c.5858C>A (p.Ser1953Tyr) n.4532C>A c.857C>A (p.Ser286Tyr) c.*1621C>A (n.*1621C>A) c.1165C>A | |
| 15 | g.48445436A>C | CA392340052 | FBN1 | c.5857T>G (p.Ser1953Ala) n.4531T>G c.856T>G (p.Ser286Ala) c.*1620T>G (n.*1620T>G) c.1164T>G | |
| 15 | g.48445436A>G | CA392340054 | FBN1 | c.5857T>C (p.Ser1953Pro) n.4531T>C c.856T>C (p.Ser286Pro) c.*1620T>C (n.*1620T>C) c.1164T>C | |
| 15 | g.48445436A>T | CA392340053 | FBN1 | c.5857T>A (p.Ser1953Thr) n.4531T>A c.856T>A (p.Ser286Thr) c.*1620T>A (n.*1620T>A) c.1164T>A | |
| 15 | g.48445436dup | CA658824294 | FBN1 | c.5857dup (p.Ser1953PhefsTer8) n.4531dup c.856dup (p.Ser286PhefsTer8) c.*1620dup (n.*1620dup) c.1164dup | ClinVar dbSNP |
| 15 | g.48445437C>A | CA055751 | FBN1 | c.5856G>T (p.Gly1952=) n.4530G>T c.855G>T (p.Gly285=) c.*1619G>T (n.*1619G>T) c.1163G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445437C= | CA2175492558 | FBN1 | c.5856G= (p.Gly1952=) n.4530G= c.855G= (p.Gly285=) c.*1619G= (n.*1619G=) c.1163G= | |
| 15 | g.48445437C>G | CA490022496 | FBN1 | c.5856G>C (p.Gly1952=) n.4530G>C c.855G>C (p.Gly285=) c.*1619G>C (n.*1619G>C) c.1163G>C | ClinVar dbSNP |
| 15 | g.48445437C>T | CA490022499 | FBN1 | c.5856G>A (p.Gly1952=) n.4530G>A c.855G>A (p.Gly285=) c.*1619G>A (n.*1619G>A) c.1163G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48445440del | CA2695220231 | FBN1 | c.5856del (p.Ser1953LeufsTer27) n.4530del c.855del (p.Ser286LeufsTer27) c.*1619del (n.*1619del) c.1163del | ClinVar |
| 15 | g.48445438C>A | CA392340055 | FBN1 | c.5855G>T (p.Gly1952Val) n.4529G>T c.854G>T (p.Gly285Val) c.*1618G>T (n.*1618G>T) c.1162G>T | ClinVar dbSNP |
| 15 | g.48445438C>G | CA392340056 | FBN1 | c.5855G>C (p.Gly1952Ala) n.4529G>C c.854G>C (p.Gly285Ala) c.*1618G>C (n.*1618G>C) c.1162G>C | |
| 15 | g.48445438C>T | CA392340057 | FBN1 | c.5855G>A (p.Gly1952Glu) n.4529G>A c.854G>A (p.Gly285Glu) c.*1618G>A (n.*1618G>A) c.1162G>A | gnomAD v4 |
| 15 | g.48445439C>A | CA392340058 | FBN1 | c.5854G>T (p.Gly1952Trp) n.4528G>T c.853G>T (p.Gly285Trp) c.*1617G>T (n.*1617G>T) c.1161G>T | |
| 15 | g.48445439C= | CA2175492568 | FBN1 | c.5854G= (p.Gly1952=) n.4528G= c.853G= (p.Gly285=) c.*1617G= (n.*1617G=) c.1161G= | |
| 15 | g.48445439C>G | CA392340060 | FBN1 | c.5854G>C (p.Gly1952Arg) n.4528G>C c.853G>C (p.Gly285Arg) c.*1617G>C (n.*1617G>C) c.1161G>C | |
| 15 | g.48445439C>T | CA392340059 | FBN1 | c.5854G>A (p.Gly1952Arg) n.4528G>A c.853G>A (p.Gly285Arg) c.*1617G>A (n.*1617G>A) c.1161G>A | dbSNP |
| 15 | g.48445440C>A | CA490022506 | FBN1 | c.5853G>T (p.Val1951=) n.4527G>T c.852G>T (p.Val284=) c.*1616G>T (n.*1616G>T) c.1160G>T | |
| 15 | g.48445440C>G | CA490022508 | FBN1 | c.5853G>C (p.Val1951=) n.4527G>C c.852G>C (p.Val284=) c.*1616G>C (n.*1616G>C) c.1160G>C | |
| 15 | g.48445440C>T | CA490022511 | FBN1 | c.5853G>A (p.Val1951=) n.4527G>A c.852G>A (p.Val284=) c.*1616G>A (n.*1616G>A) c.1160G>A | |
| 15 | g.48445441A= | CA2175492575 | FBN1 | c.5852T= (p.Val1951=) n.4526T= c.851T= (p.Val284=) c.*1615T= (n.*1615T=) c.1159T= | |
| 15 | g.48445441A>C | CA392340061 | FBN1 | c.5852T>G (p.Val1951Gly) n.4526T>G c.851T>G (p.Val284Gly) c.*1615T>G (n.*1615T>G) c.1159T>G | |
| 15 | g.48445441A>G | CA392340063 | FBN1 | c.5852T>C (p.Val1951Ala) n.4526T>C c.851T>C (p.Val284Ala) c.*1615T>C (n.*1615T>C) c.1159T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48445441A>T | CA392340062 | FBN1 | c.5852T>A (p.Val1951Glu) n.4526T>A c.851T>A (p.Val284Glu) c.*1615T>A (n.*1615T>A) c.1159T>A | |
| 15 | g.48445442C>A | CA392340064 | FBN1 | c.5851G>T (p.Val1951Leu) n.4525G>T c.850G>T (p.Val284Leu) c.*1614G>T (n.*1614G>T) c.1158G>T | |
| 15 | g.48445442C= | CA2175492581 | FBN1 | c.5851G= (p.Val1951=) n.4525G= c.850G= (p.Val284=) c.*1614G= (n.*1614G=) c.1158G= | |
| 15 | g.48445442C>G | CA392340066 | FBN1 | c.5851G>C (p.Val1951Leu) n.4525G>C c.850G>C (p.Val284Leu) c.*1614G>C (n.*1614G>C) c.1158G>C | |
| 15 | g.48445442C>T | CA392340065 | FBN1 | c.5851G>A (p.Val1951Met) n.4525G>A c.850G>A (p.Val284Met) c.*1614G>A (n.*1614G>A) c.1158G>A | |
| 15 | g.48445443T>A | CA490022522 | FBN1 | c.5850A>T (p.Thr1950=) n.4524A>T c.849A>T (p.Thr283=) c.*1613A>T (n.*1613A>T) c.1157A>T | gnomAD v4 |
| 15 | g.48445443T>C | CA490022525 | FBN1 | c.5850A>G (p.Thr1950=) n.4524A>G c.849A>G (p.Thr283=) c.*1613A>G (n.*1613A>G) c.1157A>G | ClinVar dbSNP |
| 15 | g.48445443T>G | CA490022527 | FBN1 | c.5850A>C (p.Thr1950=) n.4524A>C c.849A>C (p.Thr283=) c.*1613A>C (n.*1613A>C) c.1157A>C | |
| 15 | g.48445443T= | CA2175492588 | FBN1 | c.5850A= (p.Thr1950=) n.4524A= c.849A= (p.Thr283=) c.*1613A= (n.*1613A=) c.1157A= | |
| 15 | g.48445444_48445448dup | CA916082420 | FBN1 | c.5846_5850dup (p.Val1951IlefsTer31) n.4520_4524dup c.845_849dup (p.Val284IlefsTer31) c.*1609_*1613dup (n.*1609_*1613dup) c.1153_1157dup | ClinVar dbSNP |
| 15 | g.48445444G>A | CA392340067 | FBN1 | c.5849C>T (p.Thr1950Ile) n.4523C>T c.848C>T (p.Thr283Ile) c.*1612C>T (n.*1612C>T) c.1156C>T | |
| 15 | g.48445444G>C | CA392340069 | FBN1 | c.5849C>G (p.Thr1950Arg) n.4523C>G c.848C>G (p.Thr283Arg) c.*1612C>G (n.*1612C>G) c.1156C>G | |
| 15 | g.48445444G>T | CA392340068 | FBN1 | c.5849C>A (p.Thr1950Lys) n.4523C>A c.848C>A (p.Thr283Lys) c.*1612C>A (n.*1612C>A) c.1156C>A | |
| 15 | g.48445445T>A | CA392340070 | FBN1 | c.5848A>T (p.Thr1950Ser) n.4522A>T c.847A>T (p.Thr283Ser) c.*1611A>T (n.*1611A>T) c.1155A>T | |
| 15 | g.48445445T>C | CA392340072 | FBN1 | c.5848A>G (p.Thr1950Ala) n.4522A>G c.847A>G (p.Thr283Ala) c.*1611A>G (n.*1611A>G) c.1155A>G | ClinVar gnomAD v4 |
| 15 | g.48445445T>G | CA392340071 | FBN1 | c.5848A>C (p.Thr1950Pro) n.4522A>C c.847A>C (p.Thr283Pro) c.*1611A>C (n.*1611A>C) c.1155A>C | |
| 15 | g.48445447_48445449del | CA2695220234 | FBN1 | c.5846_5848del (p.Asn1949del) n.4520_4522del c.845_847del (p.Asn282del) c.*1609_*1611del (n.*1609_*1611del) c.1153_1155del | |
| 15 | g.48445446A>C | CA392340073 | FBN1 | c.5847T>G (p.Asn1949Lys) n.4521T>G c.846T>G (p.Asn282Lys) c.*1610T>G (n.*1610T>G) c.1154T>G | |
| 15 | g.48445446A>G | CA490022536 | FBN1 | c.5847T>C (p.Asn1949=) n.4521T>C c.846T>C (p.Asn282=) c.*1610T>C (n.*1610T>C) c.1154T>C | |
| 15 | g.48445446A>T | CA392340074 | FBN1 | c.5847T>A (p.Asn1949Lys) n.4521T>A c.846T>A (p.Asn282Lys) c.*1610T>A (n.*1610T>A) c.1154T>A | |
| 15 | g.48445447T>A | CA392340075 | FBN1 | c.5846A>T (p.Asn1949Ile) n.4520A>T c.845A>T (p.Asn282Ile) c.*1609A>T (n.*1609A>T) c.1153A>T | |
| 15 | g.48445447T>C | CA392340077 | FBN1 | c.5846A>G (p.Asn1949Ser) n.4520A>G c.845A>G (p.Asn282Ser) c.*1609A>G (n.*1609A>G) c.1153A>G | |
| 15 | g.48445447T>G | CA392340076 | FBN1 | c.5846A>C (p.Asn1949Thr) n.4520A>C c.845A>C (p.Asn282Thr) c.*1609A>C (n.*1609A>C) c.1153A>C | |
| 15 | g.48445448T>A | CA392340078 | FBN1 | c.5845A>T (p.Asn1949Tyr) n.4519A>T c.844A>T (p.Asn282Tyr) c.*1608A>T (n.*1608A>T) c.1152A>T | |
| 15 | g.48445448T>C | CA392340080 | FBN1 | c.5845A>G (p.Asn1949Asp) n.4519A>G c.844A>G (p.Asn282Asp) c.*1608A>G (n.*1608A>G) c.1152A>G | |
| 15 | g.48445448T>G | CA392340079 | FBN1 | c.5845A>C (p.Asn1949His) n.4519A>C c.844A>C (p.Asn282His) c.*1608A>C (n.*1608A>C) c.1152A>C | |
| 15 | g.48445449A>C | CA392340081 | FBN1 | c.5844T>G (p.Ile1948Met) n.4518T>G c.843T>G (p.Ile281Met) c.*1607T>G (n.*1607T>G) c.1151T>G | |
| 15 | g.48445449A>G | CA490022547 | FBN1 | c.5844T>C (p.Ile1948=) n.4518T>C c.843T>C (p.Ile281=) c.*1607T>C (n.*1607T>C) c.1151T>C | |
| 15 | g.48445449A>T | CA490022549 | FBN1 | c.5844T>A (p.Ile1948=) n.4518T>A c.843T>A (p.Ile281=) c.*1607T>A (n.*1607T>A) c.1151T>A | |
| 15 | g.48445450A>C | CA392340084 | FBN1 | c.5843T>G (p.Ile1948Ser) n.4517T>G c.842T>G (p.Ile281Ser) c.*1606T>G (n.*1606T>G) c.1150T>G | |
| 15 | g.48445450A>G | CA392340082 | FBN1 | c.5843T>C (p.Ile1948Thr) n.4517T>C c.842T>C (p.Ile281Thr) c.*1606T>C (n.*1606T>C) c.1150T>C | |
| 15 | g.48445450A>T | CA392340083 | FBN1 | c.5843T>A (p.Ile1948Asn) n.4517T>A c.842T>A (p.Ile281Asn) c.*1606T>A (n.*1606T>A) c.1150T>A | |
| 15 | g.48445451T>A | CA392340085 | FBN1 | c.5842A>T (p.Ile1948Phe) n.4516A>T c.841A>T (p.Ile281Phe) c.*1605A>T (n.*1605A>T) c.1149A>T | |
| 15 | g.48445451T>C | CA055746 | FBN1 | c.5842A>G (p.Ile1948Val) n.4516A>G c.841A>G (p.Ile281Val) c.*1605A>G (n.*1605A>G) c.1149A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445451T>G | CA392340086 | FBN1 | c.5842A>C (p.Ile1948Leu) n.4516A>C c.841A>C (p.Ile281Leu) c.*1605A>C (n.*1605A>C) c.1149A>C | |
| 15 | g.48445451T= | CA2175492598 | FBN1 | c.5842A= (p.Ile1948=) n.4516A= c.841A= (p.Ile281=) c.*1605A= (n.*1605A=) c.1149A= | |
| 15 | g.48445452G>A | CA055740 | FBN1 | c.5841C>T (p.Cys1947=) n.4515C>T c.840C>T (p.Cys280=) c.*1604C>T (n.*1604C>T) c.1148C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445452G>C | CA392340087 | FBN1 | c.5841C>G (p.Cys1947Trp) n.4515C>G c.840C>G (p.Cys280Trp) c.*1604C>G (n.*1604C>G) c.1148C>G | |
| 15 | g.48445452G= | CA2175492605 | FBN1 | c.5841C= (p.Cys1947=) n.4515C= c.840C= (p.Cys280=) c.*1604C= (n.*1604C=) c.1148C= | |
| 15 | g.48445452G>T | CA392340088 | FBN1 | c.5841C>A (p.Cys1947Ter) n.4515C>A c.840C>A (p.Cys280Ter) c.*1604C>A (n.*1604C>A) c.1148C>A | |
| 15 | g.48445453C>A | CA392340089 | FBN1 | c.5840G>T (p.Cys1947Phe) n.4514G>T c.839G>T (p.Cys280Phe) c.*1603G>T (n.*1603G>T) c.1147G>T | ClinVar dbSNP |
| 15 | g.48445453C= | CA2175492619 | FBN1 | c.5840G= (p.Cys1947=) n.4514G= c.839G= (p.Cys280=) c.*1603G= (n.*1603G=) c.1147G= | |
| 15 | g.48445453C>G | CA392340090 | FBN1 | c.5840G>C (p.Cys1947Ser) n.4514G>C c.839G>C (p.Cys280Ser) c.*1603G>C (n.*1603G>C) c.1147G>C | |
| 15 | g.48445453C>T | CA016110 | FBN1 | c.5840G>A (p.Cys1947Tyr) n.4514G>A c.839G>A (p.Cys280Tyr) c.*1603G>A (n.*1603G>A) c.1147G>A | ClinVar dbSNP |
| 15 | g.48445454A= | CA2175492634 | FBN1 | c.5839T= (p.Cys1947=) n.4513T= c.838T= (p.Cys280=) c.*1602T= (n.*1602T=) c.1146T= | |
| 15 | g.48445454A>C | CA392340093 | FBN1 | c.5839T>G (p.Cys1947Gly) n.4513T>G c.838T>G (p.Cys280Gly) c.*1602T>G (n.*1602T>G) c.1146T>G | ClinVar dbSNP |
| 15 | g.48445454A>G | CA392340092 | FBN1 | c.5839T>C (p.Cys1947Arg) n.4513T>C c.838T>C (p.Cys280Arg) c.*1602T>C (n.*1602T>C) c.1146T>C | ClinVar dbSNP |
| 15 | g.48445454A>T | CA392340091 | FBN1 | c.5839T>A (p.Cys1947Ser) n.4513T>A c.838T>A (p.Cys280Ser) c.*1602T>A (n.*1602T>A) c.1146T>A | ClinVar dbSNP |
| 15 | g.48445455T>A | CA392340094 | FBN1 | c.5838A>T (p.Gln1946His) n.4512A>T c.837A>T (p.Gln279His) c.*1601A>T (n.*1601A>T) c.1145A>T | |
| 15 | g.48445455T>C | CA055736 | FBN1 | c.5838A>G (p.Gln1946=) n.4512A>G c.837A>G (p.Gln279=) c.*1601A>G (n.*1601A>G) c.1145A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445455T>G | CA392340095 | FBN1 | c.5838A>C (p.Gln1946His) n.4512A>C c.837A>C (p.Gln279His) c.*1601A>C (n.*1601A>C) c.1145A>C | |
| 15 | g.48445455T= | CA2175492644 | FBN1 | c.5838A= (p.Gln1946=) n.4512A= c.837A= (p.Gln279=) c.*1601A= (n.*1601A=) c.1145A= | |
| 15 | g.48445456T>A | CA392340096 | FBN1 | c.5837A>T (p.Gln1946Leu) n.4511A>T c.836A>T (p.Gln279Leu) c.*1600A>T (n.*1600A>T) c.1144A>T | |
| 15 | g.48445456T>C | CA392340097 | FBN1 | c.5837A>G (p.Gln1946Arg) n.4511A>G c.836A>G (p.Gln279Arg) c.*1600A>G (n.*1600A>G) c.1144A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445456T>G | CA392340098 | FBN1 | c.5837A>C (p.Gln1946Pro) n.4511A>C c.836A>C (p.Gln279Pro) c.*1600A>C (n.*1600A>C) c.1144A>C | |
| 15 | g.48445456T= | CA2175492649 | FBN1 | c.5837A= (p.Gln1946=) n.4511A= c.836A= (p.Gln279=) c.*1600A= (n.*1600A=) c.1144A= | |
| 15 | g.48445457G>A | CA392340099 | FBN1 | c.5836C>T (p.Gln1946Ter) n.4510C>T c.835C>T (p.Gln279Ter) c.*1599C>T (n.*1599C>T) c.1143C>T | ClinVar |
| 15 | g.48445457G>C | CA392340100 | FBN1 | c.5836C>G (p.Gln1946Glu) n.4510C>G c.835C>G (p.Gln279Glu) c.*1599C>G (n.*1599C>G) c.1143C>G | |
| 15 | g.48445457G>T | CA392340101 | FBN1 | c.5836C>A (p.Gln1946Lys) n.4510C>A c.835C>A (p.Gln279Lys) c.*1599C>A (n.*1599C>A) c.1143C>A | |
| 15 | g.48445458del | CA2573150957 | FBN1 | c.5836del (p.Gln1946AsnfsTer?) n.4510del c.835del (p.Gln279AsnfsTer?) c.*1599del (n.*1599del) c.1143del | ClinVar dbSNP |
| 15 | g.48445458G>A | CA490022591 | FBN1 | c.5835C>T (p.Gly1945=) n.4509C>T c.834C>T (p.Gly278=) c.*1598C>T (n.*1598C>T) c.1142C>T | |
| 15 | g.48445458G>C | CA490022593 | FBN1 | c.5835C>G (p.Gly1945=) n.4509C>G c.834C>G (p.Gly278=) c.*1598C>G (n.*1598C>G) c.1142C>G | |
| 15 | g.48445458G>T | CA490022596 | FBN1 | c.5835C>A (p.Gly1945=) n.4509C>A c.834C>A (p.Gly278=) c.*1598C>A (n.*1598C>A) c.1142C>A | gnomAD v4 |
| 15 | g.48445459C>A | CA392340102 | FBN1 | c.5834G>T (p.Gly1945Val) n.4508G>T c.833G>T (p.Gly278Val) c.*1597G>T (n.*1597G>T) c.1141G>T | |
| 15 | g.48445459C= | CA2175492654 | FBN1 | c.5834G= (p.Gly1945=) n.4508G= c.833G= (p.Gly278=) c.*1597G= (n.*1597G=) c.1141G= | |
| 15 | g.48445459C>G | CA392340103 | FBN1 | c.5834G>C (p.Gly1945Ala) n.4508G>C c.833G>C (p.Gly278Ala) c.*1597G>C (n.*1597G>C) c.1141G>C | |
| 15 | g.48445459C>T | CA392340104 | FBN1 | c.5834G>A (p.Gly1945Asp) n.4508G>A c.833G>A (p.Gly278Asp) c.*1597G>A (n.*1597G>A) c.1141G>A | ClinVar dbSNP |
| 15 | g.48445460C>A | CA392340106 | FBN1 | c.5833G>T (p.Gly1945Cys) n.4507G>T c.832G>T (p.Gly278Cys) c.*1596G>T (n.*1596G>T) c.1140G>T | |
| 15 | g.48445460C>G | CA392340107 | FBN1 | c.5833G>C (p.Gly1945Arg) n.4507G>C c.832G>C (p.Gly278Arg) c.*1596G>C (n.*1596G>C) c.1140G>C | |
| 15 | g.48445460C>T | CA392340105 | FBN1 | c.5833G>A (p.Gly1945Ser) n.4507G>A c.832G>A (p.Gly278Ser) c.*1596G>A (n.*1596G>A) c.1140G>A | |
| 15 | g.48445461A= | CA2175492660 | FBN1 | c.5832T= (p.Asn1944=) n.4506T= c.831T= (p.Asn277=) c.*1595T= (n.*1595T=) c.1139T= | |
| 15 | g.48445461A>C | CA392340108 | FBN1 | c.5832T>G (p.Asn1944Lys) n.4506T>G c.831T>G (p.Asn277Lys) c.*1595T>G (n.*1595T>G) c.1139T>G | |
| 15 | g.48445461A>G | CA490022607 | FBN1 | c.5832T>C (p.Asn1944=) n.4506T>C c.831T>C (p.Asn277=) c.*1595T>C (n.*1595T>C) c.1139T>C | |
| 15 | g.48445461A>T | CA392340109 | FBN1 | c.5832T>A (p.Asn1944Lys) n.4506T>A c.831T>A (p.Asn277Lys) c.*1595T>A (n.*1595T>A) c.1139T>A | |
| 15 | g.48445462T>A | CA392340110 | FBN1 | c.5831A>T (p.Asn1944Ile) n.4505A>T c.830A>T (p.Asn277Ile) c.*1594A>T (n.*1594A>T) c.1138A>T | |
| 15 | g.48445462T>C | CA392340111 | FBN1 | c.5831A>G (p.Asn1944Ser) n.4505A>G c.830A>G (p.Asn277Ser) c.*1594A>G (n.*1594A>G) c.1138A>G | |
| 15 | g.48445462T>G | CA392340112 | FBN1 | c.5831A>C (p.Asn1944Thr) n.4505A>C c.830A>C (p.Asn277Thr) c.*1594A>C (n.*1594A>C) c.1138A>C | |
| 15 | g.48445463_48445464dup | CA1139663931 | FBN1 | c.5830_5831dup (p.Asn1944LysfsTer?) n.4504_4505dup c.829_830dup (p.Asn277LysfsTer?) c.*1593_*1594dup (n.*1593_*1594dup) c.1137_1138dup | ClinVar dbSNP |
| 15 | g.48445464del | CA2580089691 | FBN1 | c.5831del (p.Asn1944MetfsTer?) n.4505del c.830del (p.Asn277MetfsTer?) c.*1594del (n.*1594del) c.1138del | ClinVar |
| 15 | g.48445463T>A | CA392340113 | FBN1 | c.5830A>T (p.Asn1944Tyr) n.4504A>T c.829A>T (p.Asn277Tyr) c.*1593A>T (n.*1593A>T) c.1137A>T | |
| 15 | g.48445463T>C | CA392340114 | FBN1 | c.5830A>G (p.Asn1944Asp) n.4504A>G c.829A>G (p.Asn277Asp) c.*1593A>G (n.*1593A>G) c.1137A>G | |
| 15 | g.48445463T>G | CA392340115 | FBN1 | c.5830A>C (p.Asn1944His) n.4504A>C c.829A>C (p.Asn277His) c.*1593A>C (n.*1593A>C) c.1137A>C | gnomAD v4 |
| 15 | g.48445464T>A | CA392340116 | FBN1 | c.5829A>T (p.Arg1943Ser) n.4503A>T c.828A>T (p.Arg276Ser) c.*1592A>T (n.*1592A>T) c.1136A>T | |
| 15 | g.48445464T>C | CA490022621 | FBN1 | c.5829A>G (p.Arg1943=) n.4503A>G c.828A>G (p.Arg276=) c.*1592A>G (n.*1592A>G) c.1136A>G | |
| 15 | g.48445464T>G | CA392340117 | FBN1 | c.5829A>C (p.Arg1943Ser) n.4503A>C c.828A>C (p.Arg276Ser) c.*1592A>C (n.*1592A>C) c.1136A>C | |
| 15 | g.48445465C>A | CA392340118 | FBN1 | c.5828G>T (p.Arg1943Ile) n.4502G>T c.827G>T (p.Arg276Ile) c.*1591G>T (n.*1591G>T) c.1135G>T | ClinVar dbSNP |
| 15 | g.48445465C= | CA2175492673 | FBN1 | c.5828G= (p.Arg1943=) n.4502G= c.827G= (p.Arg276=) c.*1591G= (n.*1591G=) c.1135G= | |
| 15 | g.48445465C>G | CA392340119 | FBN1 | c.5828G>C (p.Arg1943Thr) n.4502G>C c.827G>C (p.Arg276Thr) c.*1591G>C (n.*1591G>C) c.1135G>C | |
| 15 | g.48445465C>T | CA392340120 | FBN1 | c.5828G>A (p.Arg1943Lys) n.4502G>A c.827G>A (p.Arg276Lys) c.*1591G>A (n.*1591G>A) c.1135G>A | |
| 15 | g.48445466T>A | CA392340122 | FBN1 | c.5827A>T (p.Arg1943Ter) n.4501A>T c.826A>T (p.Arg276Ter) c.*1590A>T (n.*1590A>T) c.1134A>T | |
| 15 | g.48445466T>C | CA392340121 | FBN1 | c.5827A>G (p.Arg1943Gly) n.4501A>G c.826A>G (p.Arg276Gly) c.*1590A>G (n.*1590A>G) c.1134A>G | |
| 15 | g.48445466T>G | CA490022629 | FBN1 | c.5827A>C (p.Arg1943=) n.4501A>C c.826A>C (p.Arg276=) c.*1590A>C (n.*1590A>C) c.1134A>C | |
| 15 | g.48445467G>A | CA490022634 | FBN1 | c.5826C>T (p.Cys1942=) n.4500C>T c.825C>T (p.Cys275=) c.*1589C>T (n.*1589C>T) c.1133C>T | |
| 15 | g.48445467G>C | CA392340123 | FBN1 | c.5826C>G (p.Cys1942Trp) n.4500C>G c.825C>G (p.Cys275Trp) c.*1589C>G (n.*1589C>G) c.1133C>G | |
| 15 | g.48445467G= | CA2175492685 | FBN1 | c.5826C= (p.Cys1942=) n.4500C= c.825C= (p.Cys275=) c.*1589C= (n.*1589C=) c.1133C= | |
| 15 | g.48445467G>T | CA269532860 | FBN1 | c.5826C>A (p.Cys1942Ter) n.4500C>A c.825C>A (p.Cys275Ter) c.*1589C>A (n.*1589C>A) c.1133C>A | ClinVar dbSNP |
| 15 | g.48445468C>A | CA016098 | FBN1 | c.5825G>T (p.Cys1942Phe) n.4499G>T c.824G>T (p.Cys275Phe) c.*1588G>T (n.*1588G>T) c.1132G>T | ClinVar dbSNP |
| 15 | g.48445468C= | CA2175492703 | FBN1 | c.5825G= (p.Cys1942=) n.4499G= c.824G= (p.Cys275=) c.*1588G= (n.*1588G=) c.1132G= | |
| 15 | g.48445468C>G | CA10587808 | FBN1 | c.5825G>C (p.Cys1942Ser) n.4499G>C c.824G>C (p.Cys275Ser) c.*1588G>C (n.*1588G>C) c.1132G>C | ClinVar dbSNP |
| 15 | g.48445468C>T | CA392340124 | FBN1 | c.5825G>A (p.Cys1942Tyr) n.4499G>A c.824G>A (p.Cys275Tyr) c.*1588G>A (n.*1588G>A) c.1132G>A | ClinVar dbSNP |
| 15 | g.48445468_48445470delinsCAA | CA2175492697 | FBN1 | c.5823_5825delinsTTG (p.Leu1941=) n.4497_4499delinsTTG c.822_824delinsTTG (p.Leu274=) c.*1586_*1588delinsTTG (n.*1586_*1588delinsTTG) c.1130_1132delinsTTG | |
| 15 | g.48445469A= | CA2175492757 | FBN1 | c.5824T= (p.Cys1942=) n.4498T= c.823T= (p.Cys275=) c.*1587T= (n.*1587T=) c.1131T= | |
| 15 | g.48445469A>C | CA392340125 | FBN1 | c.5824T>G (p.Cys1942Gly) n.4498T>G c.823T>G (p.Cys275Gly) c.*1587T>G (n.*1587T>G) c.1131T>G | ClinVar dbSNP |
| 15 | g.48445469A>G | CA392340126 | FBN1 | c.5824T>C (p.Cys1942Arg) n.4498T>C c.823T>C (p.Cys275Arg) c.*1587T>C (n.*1587T>C) c.1131T>C | ClinVar dbSNP |
| 15 | g.48445469A>T | CA392340127 | FBN1 | c.5824T>A (p.Cys1942Ser) n.4498T>A c.823T>A (p.Cys275Ser) c.*1587T>A (n.*1587T>A) c.1131T>A | ClinVar dbSNP |
| 15 | g.48445470_48445471del | CA16614638 | FBN1 | c.5823_5824del (p.Cys1942GlnfsTer7) n.4497_4498del c.822_823del (p.Cys275GlnfsTer7) c.*1586_*1587del (n.*1586_*1587del) c.1130_1131del | ClinVar dbSNP |
| 15 | g.48445470A>C | CA490022648 | FBN1 | c.5823T>G (p.Leu1941=) n.4497T>G c.822T>G (p.Leu274=) c.*1586T>G (n.*1586T>G) c.1130T>G | |
| 15 | g.48445470A>G | CA490022650 | FBN1 | c.5823T>C (p.Leu1941=) n.4497T>C c.822T>C (p.Leu274=) c.*1586T>C (n.*1586T>C) c.1130T>C | |
| 15 | g.48445470A>T | CA490022651 | FBN1 | c.5823T>A (p.Leu1941=) n.4497T>A c.822T>A (p.Leu274=) c.*1586T>A (n.*1586T>A) c.1130T>A | |
| 15 | g.48445471A>C | CA392340130 | FBN1 | c.5822T>G (p.Leu1941Arg) n.4496T>G c.821T>G (p.Leu274Arg) c.*1585T>G (n.*1585T>G) c.1129T>G | |
| 15 | g.48445471A>G | CA392340132 | FBN1 | c.5822T>C (p.Leu1941Pro) n.4496T>C c.821T>C (p.Leu274Pro) c.*1585T>C (n.*1585T>C) c.1129T>C | |
| 15 | g.48445471A>T | CA392340133 | FBN1 | c.5822T>A (p.Leu1941His) n.4496T>A c.821T>A (p.Leu274His) c.*1585T>A (n.*1585T>A) c.1129T>A | |
| 15 | g.48445472G>A | CA392340135 | FBN1 | c.5821C>T (p.Leu1941Phe) n.4495C>T c.820C>T (p.Leu274Phe) c.*1584C>T (n.*1584C>T) c.1128C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445472G>C | CA392340136 | FBN1 | c.5821C>G (p.Leu1941Val) n.4495C>G c.820C>G (p.Leu274Val) c.*1584C>G (n.*1584C>G) c.1128C>G | |
| 15 | g.48445472G= | CA2175492775 | FBN1 | c.5821C= (p.Leu1941=) n.4495C= c.820C= (p.Leu274=) c.*1584C= (n.*1584C=) c.1128C= | |
| 15 | g.48445472G>T | CA392340138 | FBN1 | c.5821C>A (p.Leu1941Ile) n.4495C>A c.820C>A (p.Leu274Ile) c.*1584C>A (n.*1584C>A) c.1128C>A | COSMIC |
| 15 | g.48445473A>C | CA392340143 | FBN1 | c.5820T>G (p.Asn1940Lys) n.4494T>G c.819T>G (p.Asn273Lys) c.*1583T>G (n.*1583T>G) c.1127T>G | |
| 15 | g.48445473A>G | CA490022669 | FBN1 | c.5820T>C (p.Asn1940=) n.4494T>C c.819T>C (p.Asn273=) c.*1583T>C (n.*1583T>C) c.1127T>C | |
| 15 | g.48445473A>T | CA392340141 | FBN1 | c.5820T>A (p.Asn1940Lys) n.4494T>A c.819T>A (p.Asn273Lys) c.*1583T>A (n.*1583T>A) c.1127T>A | |
| 15 | g.48445474T>A | CA392340145 | FBN1 | c.5819A>T (p.Asn1940Ile) n.4493A>T c.818A>T (p.Asn273Ile) c.*1582A>T (n.*1582A>T) c.1126A>T | |
| 15 | g.48445474T>C | CA392340147 | FBN1 | c.5819A>G (p.Asn1940Ser) n.4493A>G c.818A>G (p.Asn273Ser) c.*1582A>G (n.*1582A>G) c.1126A>G | |
| 15 | g.48445474T>G | CA392340148 | FBN1 | c.5819A>C (p.Asn1940Thr) n.4493A>C c.818A>C (p.Asn273Thr) c.*1582A>C (n.*1582A>C) c.1126A>C | |
| 15 | g.48445475T>A | CA392340151 | FBN1 | c.5818A>T (p.Asn1940Tyr) n.4492A>T c.817A>T (p.Asn273Tyr) c.*1581A>T (n.*1581A>T) c.1125A>T | |
| 15 | g.48445475T>C | CA392340153 | FBN1 | c.5818A>G (p.Asn1940Asp) n.4492A>G c.817A>G (p.Asn273Asp) c.*1581A>G (n.*1581A>G) c.1125A>G | |
| 15 | g.48445475T>G | CA392340154 | FBN1 | c.5818A>C (p.Asn1940His) n.4492A>C c.817A>C (p.Asn273His) c.*1581A>C (n.*1581A>C) c.1125A>C | |
| 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 | ClinVar 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 | ClinVar |
| 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 |