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.48513536G>A | CA2175531372 | FBN1 | c.1588+13C>T (n.1588+13C>T) n.262+13C>T c.636+24175C>T (n.636+24175C>T) | dbSNP |
| 15 | g.48513536G= | CA2175531371 | FBN1 | c.1588+13C= (n.1588+13C=) n.262+13C= c.636+24175C= (n.636+24175C=) | |
| 15 | g.48513537C>G | CA2628336261 | FBN1 | c.1588+12G>C (n.1588+12G>C) n.262+12G>C c.636+24174G>C (n.636+24174G>C) | gnomAD v4 |
| 15 | g.48513537C>T | CA2628336262 | FBN1 | c.1588+12G>A (n.1588+12G>A) n.262+12G>A c.636+24174G>A (n.636+24174G>A) | gnomAD v4 |
| 15 | g.48513537_48513538insA | CA2741427197 | FBN1 | c.1588+11_1588+12insT (n.1588+11_1588+12insT) n.262+11_262+12insT c.636+24173_636+24174insT (n.636+24173_636+24174insT) | |
| 15 | g.48513538C= | CA2175531373 | FBN1 | c.1588+11G= (n.1588+11G=) n.262+11G= c.636+24173G= (n.636+24173G=) | |
| 15 | g.48513538C>T | CA617840434 | FBN1 | c.1588+11G>A (n.1588+11G>A) n.262+11G>A c.636+24173G>A (n.636+24173G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48513539A= | CA2175531374 | FBN1 | c.1588+10T= (n.1588+10T=) n.262+10T= c.636+24172T= (n.636+24172T=) | |
| 15 | g.48513539A>C | CA269557361 | FBN1 | c.1588+10T>G (n.1588+10T>G) n.262+10T>G c.636+24172T>G (n.636+24172T>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48513539A>G | CA045075 | FBN1 | c.1588+10T>C (n.1588+10T>C) n.262+10T>C c.636+24172T>C (n.636+24172T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48513539_48513540insCTCACGC | CA2741427198 | FBN1 | c.1588+9_1588+10insGCGTGAG (n.1588+9_1588+10insGCGTGAG) n.262+9_262+10insGCGTGAG c.636+24171_636+24172insGCGTGAG (n.636+24171_636+24172insGCGTGAG) | |
| 15 | g.48513540G>A | CA045159 | FBN1 | c.1588+9C>T (n.1588+9C>T) n.262+9C>T c.636+24171C>T (n.636+24171C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48513540G>C | CA915946604 | FBN1 | c.1588+9C>G (n.1588+9C>G) n.262+9C>G c.636+24171C>G (n.636+24171C>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48513540G= | CA2175531375 | FBN1 | c.1588+9C= (n.1588+9C=) n.262+9C= c.636+24171C= (n.636+24171C=) | |
| 15 | g.48513541G>A | CA269557378 | FBN1 | c.1588+8C>T (n.1588+8C>T) n.262+8C>T c.636+24170C>T (n.636+24170C>T) | dbSNP |
| 15 | g.48513541G>C | CA045154 | FBN1 | c.1588+8C>G (n.1588+8C>G) n.262+8C>G c.636+24170C>G (n.636+24170C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48513541G= | CA2175531376 | FBN1 | c.1588+8C= (n.1588+8C=) n.262+8C= c.636+24170C= (n.636+24170C=) | |
| 15 | g.48513542A= | CA2175531377 | FBN1 | c.1588+7T= (n.1588+7T=) n.262+7T= c.636+24169T= (n.636+24169T=) | |
| 15 | g.48513542A>T | CA2175531378 | FBN1 | c.1588+7T>A (n.1588+7T>A) n.262+7T>A c.636+24169T>A (n.636+24169T>A) | dbSNP gnomAD v4 |
| 15 | g.48513543C= | CA2175531379 | FBN1 | c.1588+6G= (n.1588+6G=) n.262+6G= c.636+24168G= (n.636+24168G=) | |
| 15 | g.48513543C>T | CA045145 | FBN1 | c.1588+6G>A (n.1588+6G>A) n.262+6G>A c.636+24168G>A (n.636+24168G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48513543_48513544insAG | CA2741427199 | FBN1 | c.1588+5_1588+6insCT (n.1588+5_1588+6insCT) n.262+5_262+6insCT c.636+24167_636+24168insCT (n.636+24167_636+24168insCT) | |
| 15 | g.48513544C>A | CA2741427200 | FBN1 | c.1588+5G>T (n.1588+5G>T) n.262+5G>T c.636+24167G>T (n.636+24167G>T) | |
| 15 | g.48513544C= | CA2175531380 | FBN1 | c.1588+5G= (n.1588+5G=) n.262+5G= c.636+24167G= (n.636+24167G=) | |
| 15 | g.48513544C>G | CA617840435 | FBN1 | c.1588+5G>C (n.1588+5G>C) n.262+5G>C c.636+24167G>C (n.636+24167G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48513545A>G | CA2628336263 | FBN1 | c.1588+4T>C (n.1588+4T>C) n.262+4T>C c.636+24166T>C (n.636+24166T>C) | gnomAD v4 |
| 15 | g.48513546T>C | CA2580089661 | FBN1 | c.1588+3A>G (n.1588+3A>G) n.262+3A>G c.636+24165A>G (n.636+24165A>G) | ClinVar |
| 15 | g.48513547A>C | CA392341924 | FBN1 | c.1588+2T>G (n.1588+2T>G) n.262+2T>G c.636+24164T>G (n.636+24164T>G) | |
| 15 | g.48513547A>G | CA392341927 | FBN1 | c.1588+2T>C (n.1588+2T>C) n.262+2T>C c.636+24164T>C (n.636+24164T>C) | |
| 15 | g.48513547A>T | CA392341929 | FBN1 | c.1588+2T>A (n.1588+2T>A) n.262+2T>A c.636+24164T>A (n.636+24164T>A) | |
| 15 | g.48513548C>A | CA392341933 | FBN1 | c.1588+1G>T (n.1588+1G>T) n.262+1G>T c.636+24163G>T (n.636+24163G>T) | |
| 15 | g.48513548C>G | CA392341936 | FBN1 | c.1588+1G>C (n.1588+1G>C) n.262+1G>C c.636+24163G>C (n.636+24163G>C) | |
| 15 | g.48513548C>T | CA392341938 | FBN1 | c.1588+1G>A (n.1588+1G>A) n.262+1G>A c.636+24163G>A (n.636+24163G>A) | ClinVar dbSNP |
| 15 | g.48513549C>A | CA392341948 | FBN1 | c.1588G>T (p.Asp530Tyr) n.262G>T c.636+24162G>T (n.636+24162G>T) | |
| 15 | g.48513549C>G | CA392341945 | FBN1 | c.1588G>C (p.Asp530His) n.262G>C c.636+24162G>C (n.636+24162G>C) | |
| 15 | g.48513549C>T | CA392341942 | FBN1 | c.1588G>A (p.Asp530Asn) n.262G>A c.636+24162G>A (n.636+24162G>A) | |
| 15 | g.48513550T>A | CA490027846 | FBN1 | c.1587A>T (p.Arg529=) n.261A>T c.636+24161A>T (n.636+24161A>T) | |
| 15 | g.48513550T>C | CA490027847 | FBN1 | c.1587A>G (p.Arg529=) n.261A>G c.636+24161A>G (n.636+24161A>G) | |
| 15 | g.48513550T>G | CA490027850 | FBN1 | c.1587A>C (p.Arg529=) n.261A>C c.636+24161A>C (n.636+24161A>C) | |
| 15 | g.48513551C>A | CA392341951 | FBN1 | c.1586G>T (p.Arg529Leu) n.260G>T c.636+24160G>T (n.636+24160G>T) | |
| 15 | g.48513551C= | CA2175531381 | FBN1 | c.1586G= (p.Arg529=) n.260G= c.636+24160G= (n.636+24160G=) | |
| 15 | g.48513551C>G | CA392341954 | FBN1 | c.1586G>C (p.Arg529Pro) n.260G>C c.636+24160G>C (n.636+24160G>C) | |
| 15 | g.48513551C>T | CA392341955 | FBN1 | c.1586G>A (p.Arg529Gln) n.260G>A c.636+24160G>A (n.636+24160G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48513552G>A | CA012291 | FBN1 | c.1585C>T (p.Arg529Ter) n.259C>T c.636+24159C>T (n.636+24159C>T) | ClinVar dbSNP |
| 15 | g.48513552G>C | CA392341957 | FBN1 | c.1585C>G (p.Arg529Gly) n.259C>G c.636+24159C>G (n.636+24159C>G) | |
| 15 | g.48513552G= | CA2175531382 | FBN1 | c.1585C= (p.Arg529=) n.259C= c.636+24159C= (n.636+24159C=) | |
| 15 | g.48513552G>T | CA490027859 | FBN1 | c.1585C>A (p.Arg529=) n.259C>A c.636+24159C>A (n.636+24159C>A) | |
| 15 | g.48513553G>A | CA490027861 | FBN1 | c.1584C>T (p.Cys528=) n.258C>T c.636+24158C>T (n.636+24158C>T) | |
| 15 | g.48513553G>C | CA392341960 | FBN1 | c.1584C>G (p.Cys528Trp) n.258C>G c.636+24158C>G (n.636+24158C>G) | |
| 15 | g.48513553G>T | CA392341963 | FBN1 | c.1584C>A (p.Cys528Ter) n.258C>A c.636+24158C>A (n.636+24158C>A) | ClinVar |
| 15 | g.48513554C>A | CA392341969 | FBN1 | c.1583G>T (p.Cys528Phe) n.257G>T c.636+24157G>T (n.636+24157G>T) | |
| 15 | g.48513554C= | CA2175531383 | FBN1 | c.1583G= (p.Cys528=) n.257G= c.636+24157G= (n.636+24157G=) | |
| 15 | g.48513554C>G | CA392341971 | FBN1 | c.1583G>C (p.Cys528Ser) n.257G>C c.636+24157G>C (n.636+24157G>C) | |
| 15 | g.48513554C>T | CA012283 | FBN1 | c.1583G>A (p.Cys528Tyr) n.257G>A c.636+24157G>A (n.636+24157G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48513555A>C | CA392341975 | FBN1 | c.1582T>G (p.Cys528Gly) n.256T>G c.636+24156T>G (n.636+24156T>G) | |
| 15 | g.48513555A>G | CA392341978 | FBN1 | c.1582T>C (p.Cys528Arg) n.256T>C c.636+24156T>C (n.636+24156T>C) | |
| 15 | g.48513555A>T | CA392341981 | FBN1 | c.1582T>A (p.Cys528Ser) n.256T>A c.636+24156T>A (n.636+24156T>A) | ClinVar |
| 15 | g.48513556T>A | CA392341983 | FBN1 | c.1581A>T (p.Glu527Asp) n.255A>T c.636+24155A>T (n.636+24155A>T) | |
| 15 | g.48513556T>C | CA490027874 | FBN1 | c.1581A>G (p.Glu527=) n.255A>G c.636+24155A>G (n.636+24155A>G) | |
| 15 | g.48513556T>G | CA392341985 | FBN1 | c.1581A>C (p.Glu527Asp) n.255A>C c.636+24155A>C (n.636+24155A>C) | |
| 15 | g.48513556_48513557insGG | CA2741427201 | FBN1 | c.1580_1581insCC (p.Glu527AspfsTer?) n.254_255insCC c.636+24154_636+24155insCC (n.636+24154_636+24155insCC) | |
| 15 | g.48513557T>A | CA392341991 | FBN1 | c.1580A>T (p.Glu527Val) n.254A>T c.636+24154A>T (n.636+24154A>T) | |
| 15 | g.48513557T>C | CA269557386 | FBN1 | c.1580A>G (p.Glu527Gly) n.254A>G c.636+24154A>G (n.636+24154A>G) | dbSNP |
| 15 | g.48513557T>G | CA392341994 | FBN1 | c.1580A>C (p.Glu527Ala) n.254A>C c.636+24154A>C (n.636+24154A>C) | |
| 15 | g.48513557T= | CA2175531384 | FBN1 | c.1580A= (p.Glu527=) n.254A= c.636+24154A= (n.636+24154A=) | |
| 15 | g.48513558C>A | CA392341998 | FBN1 | c.1579G>T (p.Glu527Ter) n.253G>T c.636+24153G>T (n.636+24153G>T) | ClinVar dbSNP |
| 15 | g.48513558C= | CA2175531385 | FBN1 | c.1579G= (p.Glu527=) n.253G= c.636+24153G= (n.636+24153G=) | |
| 15 | g.48513558C>G | CA392342001 | FBN1 | c.1579G>C (p.Glu527Gln) n.253G>C c.636+24153G>C (n.636+24153G>C) | |
| 15 | g.48513558C>T | CA392342003 | FBN1 | c.1579G>A (p.Glu527Lys) n.253G>A c.636+24153G>A (n.636+24153G>A) | gnomAD v4 |
| 15 | g.48513558dup | CA2741427202 | FBN1 | c.1579dup (p.Glu527GlyfsTer6) n.253dup c.636+24153dup (n.636+24153dup) | |
| 15 | g.48513559T>A | CA490027885 | FBN1 | c.1578A>T (p.Thr526=) n.252A>T c.636+24152A>T (n.636+24152A>T) | |
| 15 | g.48513559T>C | CA490027889 | FBN1 | c.1578A>G (p.Thr526=) n.252A>G c.636+24152A>G (n.636+24152A>G) | |
| 15 | g.48513559T>G | CA490027887 | FBN1 | c.1578A>C (p.Thr526=) n.252A>C c.636+24152A>C (n.636+24152A>C) | |
| 15 | g.48513560G>A | CA392342006 | FBN1 | c.1577C>T (p.Thr526Ile) n.251C>T c.636+24151C>T (n.636+24151C>T) | |
| 15 | g.48513560G>C | CA392342009 | FBN1 | c.1577C>G (p.Thr526Arg) n.251C>G c.636+24151C>G (n.636+24151C>G) | |
| 15 | g.48513560G>T | CA392342012 | FBN1 | c.1577C>A (p.Thr526Lys) n.251C>A c.636+24151C>A (n.636+24151C>A) | |
| 15 | g.48513560_48513561insGC | CA2741427203 | FBN1 | c.1576_1577insGC (p.Thr526SerfsTer?) n.250_251insGC c.636+24150_636+24151insGC (n.636+24150_636+24151insGC) | |
| 15 | g.48513561del | CA2740096672 | FBN1 | c.1576del (p.Thr526GlnfsTer?) n.250del c.636+24150del (n.636+24150del) | ClinVar |
| 15 | g.48513561T>A | CA392342016 | FBN1 | c.1576A>T (p.Thr526Ser) n.250A>T c.636+24150A>T (n.636+24150A>T) | |
| 15 | g.48513561T>C | CA392342017 | FBN1 | c.1576A>G (p.Thr526Ala) n.250A>G c.636+24150A>G (n.636+24150A>G) | |
| 15 | g.48513561T>G | CA392342020 | FBN1 | c.1576A>C (p.Thr526Pro) n.250A>C c.636+24150A>C (n.636+24150A>C) | |
| 15 | g.48513561_48513562delinsTC | CA2175531386 | FBN1 | c.1575_1576delinsGA (p.Arg525=) n.249_250delinsGA c.636+24149_636+24150delinsGA (n.636+24149_636+24150delinsGA) | |
| 15 | g.48513562C>A | CA490027899 | FBN1 | c.1575G>T (p.Arg525=) n.249G>T c.636+24149G>T (n.636+24149G>T) | |
| 15 | g.48513562C= | CA2175531387 | FBN1 | c.1575G= (p.Arg525=) n.249G= c.636+24149G= (n.636+24149G=) | |
| 15 | g.48513562C>G | CA490027901 | FBN1 | c.1575G>C (p.Arg525=) n.249G>C c.636+24149G>C (n.636+24149G>C) | |
| 15 | g.48513562C>T | CA490027903 | FBN1 | c.1575G>A (p.Arg525=) n.249G>A c.636+24149G>A (n.636+24149G>A) | dbSNP |
| 15 | g.48513563del | CA658824478 | FBN1 | c.1575del (p.Thr526GlnfsTer?) n.249del c.636+24149del (n.636+24149del) | ClinVar dbSNP |
| 15 | g.48513563C>A | CA392342025 | FBN1 | c.1574G>T (p.Arg525Leu) n.248G>T c.636+24148G>T (n.636+24148G>T) | |
| 15 | g.48513563C= | CA2175531388 | FBN1 | c.1574G= (p.Arg525=) n.248G= c.636+24148G= (n.636+24148G=) | |
| 15 | g.48513563C>G | CA392342026 | FBN1 | c.1574G>C (p.Arg525Pro) n.248G>C c.636+24148G>C (n.636+24148G>C) | |
| 15 | g.48513563C>T | CA269557387 | FBN1 | c.1574G>A (p.Arg525Gln) n.248G>A c.636+24148G>A (n.636+24148G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48513563_48513564insT | CA2741427204 | FBN1 | c.1573_1574insA (p.Arg525GlnfsTer8) n.247_248insA c.636+24147_636+24148insA (n.636+24147_636+24148insA) | |
| 15 | g.48513564G>A | CA045063 | FBN1 | c.1573C>T (p.Arg525Trp) n.247C>T c.636+24147C>T (n.636+24147C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48513564G>C | CA045052 | FBN1 | c.1573C>G (p.Arg525Gly) n.247C>G c.636+24147C>G (n.636+24147C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48513564G= | CA2175531389 | FBN1 | c.1573C= (p.Arg525=) n.247C= c.636+24147C= (n.636+24147C=) | |
| 15 | g.48513564G>T | CA490027913 | FBN1 | c.1573C>A (p.Arg525=) n.247C>A c.636+24147C>A (n.636+24147C>A) | |
| 15 | g.48513564_48513565delinsGC | CA2175531390 | FBN1 | c.1572_1573delinsGC (p.Thr524=) n.246_247delinsGC c.636+24146_636+24147delinsGC (n.636+24146_636+24147delinsGC) | |
| 15 | g.48513564_48513565insA | CA2741427205 | FBN1 | c.1572_1573insT (p.Arg525SerfsTer8) n.246_247insT c.636+24146_636+24147insT (n.636+24146_636+24147insT) | |
| 15 | g.48513565del | CA16614829 | FBN1 | c.1572del (p.Arg525GlyfsTer?) n.246del c.636+24146del (n.636+24146del) | ClinVar dbSNP |
| 15 | g.48513565C>A | CA490027916 | FBN1 | c.1572G>T (p.Thr524=) n.246G>T c.636+24146G>T (n.636+24146G>T) | |
| 15 | g.48513565C= | CA2175531392 | FBN1 | c.1572G= (p.Thr524=) n.246G= c.636+24146G= (n.636+24146G=) | |
| 15 | g.48513565C>G | CA490027918 | FBN1 | c.1572G>C (p.Thr524=) n.246G>C c.636+24146G>C (n.636+24146G>C) | |
| 15 | g.48513565C>T | CA490027920 | FBN1 | c.1572G>A (p.Thr524=) n.246G>A c.636+24146G>A (n.636+24146G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48513565_48513566delinsCG | CA2175531391 | FBN1 | c.1571_1572delinsCG (p.Thr524=) n.245_246delinsCG c.636+24145_636+24146delinsCG (n.636+24145_636+24146delinsCG) | |
| 15 | g.48513565_48513567delinsCGT | CA2175531393 | FBN1 | c.1570_1572delinsACG (p.Thr524=) n.244_246delinsACG c.636+24144_636+24146delinsACG (n.636+24144_636+24146delinsACG) | |
| 15 | g.48513566del | CA10587857 | FBN1 | c.1571del (p.Thr524SerfsTer?) n.245del c.636+24145del (n.636+24145del) | ClinVar dbSNP |
| 15 | g.48513566G>A | CA045042 | FBN1 | c.1571C>T (p.Thr524Met) n.245C>T c.636+24145C>T (n.636+24145C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48513566G>C | CA045020 | FBN1 | c.1571C>G (p.Thr524Arg) n.245C>G c.636+24145C>G (n.636+24145C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48513566G= | CA2175531394 | FBN1 | c.1571C= (p.Thr524=) n.245C= c.636+24145C= (n.636+24145C=) | |
| 15 | g.48513566G>T | CA392342037 | FBN1 | c.1571C>A (p.Thr524Lys) n.245C>A c.636+24145C>A (n.636+24145C>A) | ClinVar dbSNP |
| 15 | g.48513567_48513568del | CA916082423 | FBN1 | c.1570_1571del (p.Thr524AlafsTer8) n.244_245del c.636+24144_636+24145del (n.636+24144_636+24145del) | ClinVar dbSNP |
| 15 | g.48513567T>A | CA392342043 | FBN1 | c.1570A>T (p.Thr524Ser) n.244A>T c.636+24144A>T (n.636+24144A>T) | |
| 15 | g.48513567T>C | CA392342046 | FBN1 | c.1570A>G (p.Thr524Ala) n.244A>G c.636+24144A>G (n.636+24144A>G) | |
| 15 | g.48513567T>G | CA392342048 | FBN1 | c.1570A>C (p.Thr524Pro) n.244A>C c.636+24144A>C (n.636+24144A>C) | |
| 15 | g.48513567dup | CA645373009 | FBN1 | c.1570dup (p.Thr524AsnfsTer9) n.244dup c.636+24144dup (n.636+24144dup) | ClinVar dbSNP |
| 15 | g.48513568G>A | CA490027933 | FBN1 | c.1569C>T (p.Leu523=) n.243C>T c.636+24143C>T (n.636+24143C>T) | gnomAD v4 |
| 15 | g.48513568G>C | CA490027938 | FBN1 | c.1569C>G (p.Leu523=) n.243C>G c.636+24143C>G (n.636+24143C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48513568G= | CA2175531395 | FBN1 | c.1569C= (p.Leu523=) n.243C= c.636+24143C= (n.636+24143C=) | |
| 15 | g.48513568G>T | CA490027936 | FBN1 | c.1569C>A (p.Leu523=) n.243C>A c.636+24143C>A (n.636+24143C>A) | |
| 15 | g.48513568dup | CA2741427206 | FBN1 | c.1569dup (p.Thr524HisfsTer9) n.243dup c.636+24143dup (n.636+24143dup) | |
| 15 | g.48513569A>C | CA392342052 | FBN1 | c.1568T>G (p.Leu523Arg) n.242T>G c.636+24142T>G (n.636+24142T>G) | gnomAD v4 |
| 15 | g.48513569A>G | CA392342055 | FBN1 | c.1568T>C (p.Leu523Pro) n.242T>C c.636+24142T>C (n.636+24142T>C) | |
| 15 | g.48513569A>T | CA392342059 | FBN1 | c.1568T>A (p.Leu523His) n.242T>A c.636+24142T>A (n.636+24142T>A) | |
| 15 | g.48513570G>A | CA392342066 | FBN1 | c.1567C>T (p.Leu523Phe) n.241C>T c.636+24141C>T (n.636+24141C>T) | |
| 15 | g.48513570G>C | CA392342068 | FBN1 | c.1567C>G (p.Leu523Val) n.241C>G c.636+24141C>G (n.636+24141C>G) | |
| 15 | g.48513570G>T | CA392342073 | FBN1 | c.1567C>A (p.Leu523Ile) n.241C>A c.636+24141C>A (n.636+24141C>A) | |
| 15 | g.48513571T>A | CA10604763 | FBN1 | c.1566A>T (p.Thr522=) n.240A>T c.636+24140A>T (n.636+24140A>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48513571T>C | CA044994 | FBN1 | c.1566A>G (p.Thr522=) n.240A>G c.636+24140A>G (n.636+24140A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48513571T>G | CA490027948 | FBN1 | c.1566A>C (p.Thr522=) n.240A>C c.636+24140A>C (n.636+24140A>C) | |
| 15 | g.48513571T= | CA2175531396 | FBN1 | c.1566A= (p.Thr522=) n.240A= c.636+24140A= (n.636+24140A=) | |
| 15 | g.48513573_48513579del | CA2499223013 | FBN1 | c.1560_1566del (p.Gln520HisfsTer?) n.234_240del c.636+24134_636+24140del (n.636+24134_636+24140del) | ClinVar dbSNP |
| 15 | g.48513572G>A | CA392342079 | FBN1 | c.1565C>T (p.Thr522Ile) n.239C>T c.636+24139C>T (n.636+24139C>T) | dbSNP gnomAD v4 |
| 15 | g.48513572G>C | CA392342089 | FBN1 | c.1565C>G (p.Thr522Arg) n.239C>G c.636+24139C>G (n.636+24139C>G) | |
| 15 | g.48513572G= | CA2175531397 | FBN1 | c.1565C= (p.Thr522=) n.239C= c.636+24139C= (n.636+24139C=) | |
| 15 | g.48513572G>T | CA392342091 | FBN1 | c.1565C>A (p.Thr522Lys) n.239C>A c.636+24139C>A (n.636+24139C>A) | |
| 15 | g.48513573T>A | CA392342094 | FBN1 | c.1564A>T (p.Thr522Ser) n.238A>T c.636+24138A>T (n.636+24138A>T) | |
| 15 | g.48513573T>C | CA392342095 | FBN1 | c.1564A>G (p.Thr522Ala) n.238A>G c.636+24138A>G (n.636+24138A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48513573T>G | CA392342096 | FBN1 | c.1564A>C (p.Thr522Pro) n.238A>C c.636+24138A>C (n.636+24138A>C) | |
| 15 | g.48513573T= | CA2175531398 | FBN1 | c.1564A= (p.Thr522=) n.238A= c.636+24138A= (n.636+24138A=) | |
| 15 | g.48513574G>A | CA490027957 | FBN1 | c.1563C>T (p.Ser521=) n.237C>T c.636+24137C>T (n.636+24137C>T) | |
| 15 | g.48513574G>C | CA392342099 | FBN1 | c.1563C>G (p.Ser521Arg) n.237C>G c.636+24137C>G (n.636+24137C>G) | |
| 15 | g.48513574G= | CA2175531400 | FBN1 | c.1563C= (p.Ser521=) n.237C= c.636+24137C= (n.636+24137C=) | |
| 15 | g.48513574G>T | CA392342100 | FBN1 | c.1563C>A (p.Ser521Arg) n.237C>A c.636+24137C>A (n.636+24137C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48513574_48513576delinsGCT | CA2175531399 | FBN1 | c.1561_1563delinsAGC (p.Ser521=) n.235_237delinsAGC c.636+24135_636+24137delinsAGC (n.636+24135_636+24137delinsAGC) | |
| 15 | g.48513575C>A | CA392342107 | FBN1 | c.1562G>T (p.Ser521Ile) n.236G>T c.636+24136G>T (n.636+24136G>T) | |
| 15 | g.48513575C= | CA2175531401 | FBN1 | c.1562G= (p.Ser521=) n.236G= c.636+24136G= (n.636+24136G=) | |
| 15 | g.48513575C>G | CA392342118 | FBN1 | c.1562G>C (p.Ser521Thr) n.236G>C c.636+24136G>C (n.636+24136G>C) | dbSNP |
| 15 | g.48513575C>T | CA044982 | FBN1 | c.1562G>A (p.Ser521Asn) n.236G>A c.636+24136G>A (n.636+24136G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48513577_48513578del | CA012260 | FBN1 | c.1561_1562del (p.Ser521HisfsTer11) n.235_236del c.636+24135_636+24136del (n.636+24135_636+24136del) | ClinVar dbSNP |
| 15 | g.48513576T>A | CA392342137 | FBN1 | c.1561A>T (p.Ser521Cys) n.235A>T c.636+24135A>T (n.636+24135A>T) | |
| 15 | g.48513576T>C | CA392342133 | FBN1 | c.1561A>G (p.Ser521Gly) n.235A>G c.636+24135A>G (n.636+24135A>G) | |
| 15 | g.48513576T>G | CA392342129 | FBN1 | c.1561A>C (p.Ser521Arg) n.235A>C c.636+24135A>C (n.636+24135A>C) | |
| 15 | g.48513576_48513579dup | CA2695220361 | FBN1 | c.1558_1561dup (p.Ser521ThrfsTer13) n.232_235dup c.636+24132_636+24135dup (n.636+24132_636+24135dup) | |
| 15 | g.48513577C>A | CA392342142 | FBN1 | c.1560G>T (p.Gln520His) n.234G>T c.636+24134G>T (n.636+24134G>T) | |
| 15 | g.48513577C= | CA2175531402 | FBN1 | c.1560G= (p.Gln520=) n.234G= c.636+24134G= (n.636+24134G=) | |
| 15 | g.48513577C>G | CA044965 | FBN1 | c.1560G>C (p.Gln520His) n.234G>C c.636+24134G>C (n.636+24134G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48513577C>T | CA490027970 | FBN1 | c.1560G>A (p.Gln520=) n.234G>A c.636+24134G>A (n.636+24134G>A) | ClinVar |
| 15 | g.48513578T>A | CA392342151 | FBN1 | c.1559A>T (p.Gln520Leu) n.233A>T c.636+24133A>T (n.636+24133A>T) | |
| 15 | g.48513578T>C | CA392342156 | FBN1 | c.1559A>G (p.Gln520Arg) n.233A>G c.636+24133A>G (n.636+24133A>G) | |
| 15 | g.48513578T>G | CA392342160 | FBN1 | c.1559A>C (p.Gln520Pro) n.233A>C c.636+24133A>C (n.636+24133A>C) | |
| 15 | g.48513579G>A | CA392342164 | FBN1 | c.1558C>T (p.Gln520Ter) n.232C>T c.636+24132C>T (n.636+24132C>T) | ClinVar dbSNP |
| 15 | g.48513579G>C | CA392342170 | FBN1 | c.1558C>G (p.Gln520Glu) n.232C>G c.636+24132C>G (n.636+24132C>G) | |
| 15 | g.48513579G= | CA2175531403 | FBN1 | c.1558C= (p.Gln520=) n.232C= c.636+24132C= (n.636+24132C=) | |
| 15 | g.48513579G>T | CA392342172 | FBN1 | c.1558C>A (p.Gln520Lys) n.232C>A c.636+24132C>A (n.636+24132C>A) | |
| 15 | g.48513580A>C | CA392342175 | FBN1 | c.1557T>G (p.Tyr519Ter) n.231T>G c.636+24131T>G (n.636+24131T>G) | |
| 15 | g.48513580A>G | CA490027982 | FBN1 | c.1557T>C (p.Tyr519=) n.231T>C c.636+24131T>C (n.636+24131T>C) | |
| 15 | g.48513580A>T | CA392342178 | FBN1 | c.1557T>A (p.Tyr519Ter) n.231T>A c.636+24131T>A (n.636+24131T>A) | |
| 15 | g.48513581T>A | CA392342181 | FBN1 | c.1556A>T (p.Tyr519Phe) n.230A>T c.636+24130A>T (n.636+24130A>T) | |
| 15 | g.48513581T>C | CA392342185 | FBN1 | c.1556A>G (p.Tyr519Cys) n.230A>G c.636+24130A>G (n.636+24130A>G) | ClinVar dbSNP |
| 15 | g.48513581T>G | CA392342189 | FBN1 | c.1556A>C (p.Tyr519Ser) n.230A>C c.636+24130A>C (n.636+24130A>C) | |
| 15 | g.48513581T= | CA2175531404 | FBN1 | c.1556A= (p.Tyr519=) n.230A= c.636+24130A= (n.636+24130A=) | |
| 15 | g.48513582A>C | CA392342197 | FBN1 | c.1555T>G (p.Tyr519Asp) n.229T>G c.636+24129T>G (n.636+24129T>G) | |
| 15 | g.48513582A>G | CA392342200 | FBN1 | c.1555T>C (p.Tyr519His) n.229T>C c.636+24129T>C (n.636+24129T>C) | |
| 15 | g.48513582A>T | CA392342194 | FBN1 | c.1555T>A (p.Tyr519Asn) n.229T>A c.636+24129T>A (n.636+24129T>A) | |
| 15 | g.48513583T>A | CA490027992 | FBN1 | c.1554A>T (p.Gly518=) n.228A>T c.636+24128A>T (n.636+24128A>T) | |
| 15 | g.48513583T>C | CA490027994 | FBN1 | c.1554A>G (p.Gly518=) n.228A>G c.636+24128A>G (n.636+24128A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48513583T>G | CA490027996 | FBN1 | c.1554A>C (p.Gly518=) n.228A>C c.636+24128A>C (n.636+24128A>C) | dbSNP |
| 15 | g.48513583T= | CA2175531405 | FBN1 | c.1554A= (p.Gly518=) n.228A= c.636+24128A= (n.636+24128A=) | |
| 15 | g.48513584C>A | CA012250 | FBN1 | c.1553G>T (p.Gly518Val) n.227G>T c.636+24127G>T (n.636+24127G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48513584C= | CA2175531406 | FBN1 | c.1553G= (p.Gly518=) n.227G= c.636+24127G= (n.636+24127G=) | |
| 15 | g.48513584C>G | CA392342210 | FBN1 | c.1553G>C (p.Gly518Ala) n.227G>C c.636+24127G>C (n.636+24127G>C) | ClinVar dbSNP |
| 15 | g.48513584C>T | CA392342213 | FBN1 | c.1553G>A (p.Gly518Glu) n.227G>A c.636+24127G>A (n.636+24127G>A) | dbSNP |
| 15 | g.48513585dup | CA2695220362 | FBN1 | c.1553dup (p.Tyr519IlefsTer14) n.227dup c.636+24127dup (n.636+24127dup) | |
| 15 | g.48513585C>A | CA392342221 | FBN1 | c.1552G>T (p.Gly518Ter) n.226G>T c.636+24126G>T (n.636+24126G>T) | ClinVar dbSNP |
| 15 | g.48513585C= | CA2175531407 | FBN1 | c.1552G= (p.Gly518=) n.226G= c.636+24126G= (n.636+24126G=) | |
| 15 | g.48513585C>G | CA392342225 | FBN1 | c.1552G>C (p.Gly518Arg) n.226G>C c.636+24126G>C (n.636+24126G>C) | |
| 15 | g.48513585C>T | CA012241 | FBN1 | c.1552G>A (p.Gly518Arg) n.226G>A c.636+24126G>A (n.636+24126G>A) | ClinVar dbSNP |
| 15 | g.48513586A>C | CA490028005 | FBN1 | c.1551T>G (p.Ala517=) n.225T>G c.636+24125T>G (n.636+24125T>G) | |
| 15 | g.48513586A>G | CA490028007 | FBN1 | c.1551T>C (p.Ala517=) n.225T>C c.636+24125T>C (n.636+24125T>C) | |
| 15 | g.48513586A>T | CA490028009 | FBN1 | c.1551T>A (p.Ala517=) n.225T>A c.636+24125T>A (n.636+24125T>A) | |
| 15 | g.48513587G>A | CA392342233 | FBN1 | c.1550C>T (p.Ala517Val) n.224C>T c.636+24124C>T (n.636+24124C>T) | |
| 15 | g.48513587G>C | CA392342245 | FBN1 | c.1550C>G (p.Ala517Gly) n.224C>G c.636+24124C>G (n.636+24124C>G) | |
| 15 | g.48513587G>T | CA392342249 | FBN1 | c.1550C>A (p.Ala517Asp) n.224C>A c.636+24124C>A (n.636+24124C>A) | |
| 15 | g.48513588C>A | CA392342252 | FBN1 | c.1549G>T (p.Ala517Ser) n.223G>T c.636+24123G>T (n.636+24123G>T) | |
| 15 | g.48513588C>G | CA392342275 | FBN1 | c.1549G>C (p.Ala517Pro) n.223G>C c.636+24123G>C (n.636+24123G>C) | |
| 15 | g.48513588C>T | CA392342276 | FBN1 | c.1549G>A (p.Ala517Thr) n.223G>A c.636+24123G>A (n.636+24123G>A) | |
| 15 | g.48513588_48513589insATCATTGTATCTTATTTATTTCTGTTTTAGAAACTCAGTACATAAGAGTCATTTAATAAAAGGCATATTGGGTGGCT | CA044943 | FBN1 | c.1548_1549insAGCCACCCAATATGCCTTTTATTAAATGACTCTTATGTACTGAGTTTCTAAAACAGAAATAAATAAGATACAATGAT (p.Ala517SerfsTer17) n.222_223insAGCCACCCAATATGCCTTTTATTAAATGACTCTTATGTACTGAGTTTCTAAAACAGAAATAAATAAGATACAATGAT c.636+24122_636+24123insAGCCACCCAATATGCCTTTTATTAAATGACTCTTATGTACTGAGTTTCTAAAACAGAAATAAATAAGATACAATGAT (n.636+24122_636+24123insAGCCACCCAATATGCCTTTTATTAAATGACTCTTATGTACTGAGTTTCTAAAACAGAAATAAATAAGATACAATGAT) | ExAC |
| 15 | g.48513589T>A | CA490028021 | FBN1 | c.1548A>T (p.Arg516=) n.222A>T c.636+24122A>T (n.636+24122A>T) | |
| 15 | g.48513589T>C | CA490028017 | FBN1 | c.1548A>G (p.Arg516=) n.222A>G c.636+24122A>G (n.636+24122A>G) | |
| 15 | g.48513589T>G | CA490028019 | FBN1 | c.1548A>C (p.Arg516=) n.222A>C c.636+24122A>C (n.636+24122A>C) | |
| 15 | g.48513590C>A | CA392342285 | FBN1 | c.1547G>T (p.Arg516Leu) n.221G>T c.636+24121G>T (n.636+24121G>T) | |
| 15 | g.48513590C= | CA2175531408 | FBN1 | c.1547G= (p.Arg516=) n.221G= c.636+24121G= (n.636+24121G=) | |
| 15 | g.48513590C>G | CA392342289 | FBN1 | c.1547G>C (p.Arg516Pro) n.221G>C c.636+24121G>C (n.636+24121G>C) | |
| 15 | g.48513590C>T | CA044927 | FBN1 | c.1547G>A (p.Arg516Gln) n.221G>A c.636+24121G>A (n.636+24121G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48513591G>A | CA012230 | FBN1 | c.1546C>T (p.Arg516Ter) n.220C>T c.636+24120C>T (n.636+24120C>T) | ClinVar dbSNP |
| 15 | g.48513591G>C | CA392342292 | FBN1 | c.1546C>G (p.Arg516Gly) n.220C>G c.636+24120C>G (n.636+24120C>G) | |
| 15 | g.48513591G= | CA2175531409 | FBN1 | c.1546C= (p.Arg516=) n.220C= c.636+24120C= (n.636+24120C=) | |
| 15 | g.48513591G>T | CA490028029 | FBN1 | c.1546C>A (p.Arg516=) n.220C>A c.636+24120C>A (n.636+24120C>A) | dbSNP |
| 15 | g.48513591_48513592delinsCC | CA658683057 | FBN1 | c.1545_1546delinsGG (p.Cys515_Arg516delinsTrpGly) n.219_220delinsGG c.636+24119_636+24120delinsGG (n.636+24119_636+24120delinsGG) | ClinVar |
| 15 | g.48513592G>A | CA490028031 | FBN1 | c.1545C>T (p.Cys515=) n.219C>T c.636+24119C>T (n.636+24119C>T) | |
| 15 | g.48513592G>C | CA392342295 | FBN1 | c.1545C>G (p.Cys515Trp) n.219C>G c.636+24119C>G (n.636+24119C>G) | |
| 15 | g.48513592G>T | CA392342297 | FBN1 | c.1545C>A (p.Cys515Ter) n.219C>A c.636+24119C>A (n.636+24119C>A) | |
| 15 | g.48513593C>A | CA392342303 | FBN1 | c.1544G>T (p.Cys515Phe) n.218G>T c.636+24118G>T (n.636+24118G>T) | |
| 15 | g.48513593C>G | CA392342304 | FBN1 | c.1544G>C (p.Cys515Ser) n.218G>C c.636+24118G>C (n.636+24118G>C) | |
| 15 | g.48513593C>T | CA392342305 | FBN1 | c.1544G>A (p.Cys515Tyr) n.218G>A c.636+24118G>A (n.636+24118G>A) | gnomAD v4 |
| 15 | g.48513594A>C | CA392342306 | FBN1 | c.1543T>G (p.Cys515Gly) n.217T>G c.636+24117T>G (n.636+24117T>G) | |
| 15 | g.48513594A>G | CA392342307 | FBN1 | c.1543T>C (p.Cys515Arg) n.217T>C c.636+24117T>C (n.636+24117T>C) | |
| 15 | g.48513594A>T | CA392342310 | FBN1 | c.1543T>A (p.Cys515Ser) n.217T>A c.636+24117T>A (n.636+24117T>A) | |
| 15 | g.48513595C>A | CA392342315 | FBN1 | c.1542G>T (p.Gln514His) n.216G>T c.636+24116G>T (n.636+24116G>T) | |
| 15 | g.48513595C= | CA2175531410 | FBN1 | c.1542G= (p.Gln514=) n.216G= c.636+24116G= (n.636+24116G=) | |
| 15 | g.48513595C>G | CA392342320 | FBN1 | c.1542G>C (p.Gln514His) n.216G>C c.636+24116G>C (n.636+24116G>C) | |
| 15 | g.48513595C>T | CA490028042 | FBN1 | c.1542G>A (p.Gln514=) n.216G>A c.636+24116G>A (n.636+24116G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48513596T>A | CA392342322 | FBN1 | c.1541A>T (p.Gln514Leu) n.215A>T c.636+24115A>T (n.636+24115A>T) | |
| 15 | g.48513596T>C | CA392342323 | FBN1 | c.1541A>G (p.Gln514Arg) n.215A>G c.636+24115A>G (n.636+24115A>G) | |
| 15 | g.48513596T>G | CA392342328 | FBN1 | c.1541A>C (p.Gln514Pro) n.215A>C c.636+24115A>C (n.636+24115A>C) | |
| 15 | g.48513597G>A | CA392342350 | FBN1 | c.1540C>T (p.Gln514Ter) n.214C>T c.636+24114C>T (n.636+24114C>T) | ClinVar dbSNP |
| 15 | g.48513597G>C | CA392342332 | FBN1 | c.1540C>G (p.Gln514Glu) n.214C>G c.636+24114C>G (n.636+24114C>G) | ClinVar |
| 15 | g.48513597G>T | CA392342346 | FBN1 | c.1540C>A (p.Gln514Lys) n.214C>A c.636+24114C>A (n.636+24114C>A) | |
| 15 | g.48513598A>C | CA392342354 | FBN1 | c.1539T>G (p.Cys513Trp) n.213T>G c.636+24113T>G (n.636+24113T>G) | |
| 15 | g.48513598A>G | CA490028051 | FBN1 | c.1539T>C (p.Cys513=) n.213T>C c.636+24113T>C (n.636+24113T>C) | |
| 15 | g.48513598A>T | CA392342357 | FBN1 | c.1539T>A (p.Cys513Ter) n.213T>A c.636+24113T>A (n.636+24113T>A) | |
| 15 | g.48513599C>A | CA16614674 | FBN1 | c.1538G>T (p.Cys513Phe) n.212G>T c.636+24112G>T (n.636+24112G>T) | ClinVar dbSNP |
| 15 | g.48513599C= | CA2175531411 | FBN1 | c.1538G= (p.Cys513=) n.212G= c.636+24112G= (n.636+24112G=) | |
| 15 | g.48513599C>G | CA392342362 | FBN1 | c.1538G>C (p.Cys513Ser) n.212G>C c.636+24112G>C (n.636+24112G>C) | ClinVar dbSNP |
| 15 | g.48513599C>T | CA392342365 | FBN1 | c.1538G>A (p.Cys513Tyr) n.212G>A c.636+24112G>A (n.636+24112G>A) | ClinVar dbSNP |
| 15 | g.48513600A= | CA2175531412 | FBN1 | c.1537T= (p.Cys513=) n.211T= c.636+24111T= (n.636+24111T=) | |
| 15 | g.48513600A>C | CA392342382 | FBN1 | c.1537T>G (p.Cys513Gly) n.211T>G c.636+24111T>G (n.636+24111T>G) | |
| 15 | g.48513600A>G | CA392342384 | FBN1 | c.1537T>C (p.Cys513Arg) n.211T>C c.636+24111T>C (n.636+24111T>C) | ClinVar dbSNP |
| 15 | g.48513600A>T | CA392342387 | FBN1 | c.1537T>A (p.Cys513Ser) n.211T>A c.636+24111T>A (n.636+24111T>A) | |
| 15 | g.48513600dup | CA915946605 | FBN1 | c.1537dup (p.Cys513LeufsTer20) n.211dup c.636+24111dup (n.636+24111dup) | ClinVar dbSNP |
| 15 | g.48513601G>A | CA490028059 | FBN1 | c.1536C>T (p.Thr512=) n.210C>T c.636+24110C>T (n.636+24110C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48513601G>C | CA490028061 | FBN1 | c.1536C>G (p.Thr512=) n.210C>G c.636+24110C>G (n.636+24110C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48513601G= | CA2175531413 | FBN1 | c.1536C= (p.Thr512=) n.210C= c.636+24110C= (n.636+24110C=) | |
| 15 | g.48513601G>T | CA490028063 | FBN1 | c.1536C>A (p.Thr512=) n.210C>A c.636+24110C>A (n.636+24110C>A) | |
| 15 | g.48513602G>A | CA392342391 | FBN1 | c.1535C>T (p.Thr512Ile) n.209C>T c.636+24109C>T (n.636+24109C>T) | ClinVar dbSNP |
| 15 | g.48513602G>C | CA392342401 | FBN1 | c.1535C>G (p.Thr512Ser) n.209C>G c.636+24109C>G (n.636+24109C>G) | gnomAD v4 |
| 15 | g.48513602G= | CA2175531414 | FBN1 | c.1535C= (p.Thr512=) n.209C= c.636+24109C= (n.636+24109C=) | |
| 15 | g.48513602G>T | CA392342403 | FBN1 | c.1535C>A (p.Thr512Asn) n.209C>A c.636+24109C>A (n.636+24109C>A) | |
| 15 | g.48513603T>A | CA392342413 | FBN1 | c.1534A>T (p.Thr512Ser) n.208A>T c.636+24108A>T (n.636+24108A>T) | |
| 15 | g.48513603T>C | CA392342416 | FBN1 | c.1534A>G (p.Thr512Ala) n.208A>G c.636+24108A>G (n.636+24108A>G) | |
| 15 | g.48513603T>G | CA392342421 | FBN1 | c.1534A>C (p.Thr512Pro) n.208A>C c.636+24108A>C (n.636+24108A>C) | COSMIC |
| 15 | g.48513604G>A | CA16614531 | FBN1 | c.1533C>T (p.Tyr511=) n.207C>T c.636+24107C>T (n.636+24107C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48513604G>C | CA392342425 | FBN1 | c.1533C>G (p.Tyr511Ter) n.207C>G c.636+24107C>G (n.636+24107C>G) | |
| 15 | g.48513604G= | CA2175531415 | FBN1 | c.1533C= (p.Tyr511=) n.207C= c.636+24107C= (n.636+24107C=) | |
| 15 | g.48513604G>T | CA392342424 | FBN1 | c.1533C>A (p.Tyr511Ter) n.207C>A c.636+24107C>A (n.636+24107C>A) | |
| 15 | g.48513605T>A | CA392342426 | FBN1 | c.1532A>T (p.Tyr511Phe) n.206A>T c.636+24106A>T (n.636+24106A>T) | |
| 15 | g.48513605T>C | CA392342427 | FBN1 | c.1532A>G (p.Tyr511Cys) n.206A>G c.636+24106A>G (n.636+24106A>G) | ClinVar dbSNP |
| 15 | g.48513605T>G | CA392342428 | FBN1 | c.1532A>C (p.Tyr511Ser) n.206A>C c.636+24106A>C (n.636+24106A>C) | |
| 15 | g.48513605T= | CA2175531416 | FBN1 | c.1532A= (p.Tyr511=) n.206A= c.636+24106A= (n.636+24106A=) | |
| 15 | g.48513606del | CA2695220364 | FBN1 | c.1531del (p.Tyr511ThrfsTer?) n.205del c.636+24105del (n.636+24105del) | |
| 15 | g.48513606A>C | CA392342430 | FBN1 | c.1531T>G (p.Tyr511Asp) n.205T>G c.636+24105T>G (n.636+24105T>G) | |
| 15 | g.48513606A>G | CA392342431 | FBN1 | c.1531T>C (p.Tyr511His) n.205T>C c.636+24105T>C (n.636+24105T>C) | |
| 15 | g.48513606A>T | CA392342434 | FBN1 | c.1531T>A (p.Tyr511Asn) n.205T>A c.636+24105T>A (n.636+24105T>A) | |
| 15 | g.48513607C>A | CA044919 | FBN1 | c.1530G>T (p.Ser510=) n.204G>T c.636+24104G>T (n.636+24104G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48513607C= | CA2175531417 | FBN1 | c.1530G= (p.Ser510=) n.204G= c.636+24104G= (n.636+24104G=) | |
| 15 | g.48513607C>G | CA490028079 | FBN1 | c.1530G>C (p.Ser510=) n.204G>C c.636+24104G>C (n.636+24104G>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48513607C>T | CA044908 | FBN1 | c.1530G>A (p.Ser510=) n.204G>A c.636+24104G>A (n.636+24104G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48513608_48513612dup | CA2695220366 | FBN1 | c.1526_1530dup (p.Tyr511ValfsTer?) n.200_204dup c.636+24100_636+24104dup (n.636+24100_636+24104dup) | |
| 15 | g.48513608G>A | CA044894 | FBN1 | c.1529C>T (p.Ser510Leu) n.203C>T c.636+24103C>T (n.636+24103C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48513608G>C | CA392342464 | FBN1 | c.1529C>G (p.Ser510Trp) n.203C>G c.636+24103C>G (n.636+24103C>G) | |
| 15 | g.48513608G= | CA2175531418 | FBN1 | c.1529C= (p.Ser510=) n.203C= c.636+24103C= (n.636+24103C=) | |
| 15 | g.48513608G>T | CA392342468 | FBN1 | c.1529C>A (p.Ser510Ter) n.203C>A c.636+24103C>A (n.636+24103C>A) | |
| 15 | g.48513609A>C | CA392342472 | FBN1 | c.1528T>G (p.Ser510Ala) n.202T>G c.636+24102T>G (n.636+24102T>G) | |
| 15 | g.48513609A>G | CA392342475 | FBN1 | c.1528T>C (p.Ser510Pro) n.202T>C c.636+24102T>C (n.636+24102T>C) | |
| 15 | g.48513609A>T | CA392342479 | FBN1 | c.1528T>A (p.Ser510Thr) n.202T>A c.636+24102T>A (n.636+24102T>A) | |
| 15 | g.48513610A>C | CA490028093 | FBN1 | c.1527T>G (p.Gly509=) n.201T>G c.636+24101T>G (n.636+24101T>G) | |
| 15 | g.48513610A>G | CA490028090 | FBN1 | c.1527T>C (p.Gly509=) n.201T>C c.636+24101T>C (n.636+24101T>C) | |
| 15 | g.48513610A>T | CA490028091 | FBN1 | c.1527T>A (p.Gly509=) n.201T>A c.636+24101T>A (n.636+24101T>A) | gnomAD v4 |
| 15 | g.48513611C>A | CA392342483 | FBN1 | c.1526G>T (p.Gly509Val) n.200G>T c.636+24100G>T (n.636+24100G>T) | ClinVar dbSNP |
| 15 | g.48513611C>G | CA392342496 | FBN1 | c.1526G>C (p.Gly509Ala) n.200G>C c.636+24100G>C (n.636+24100G>C) | |
| 15 | g.48513611C>T | CA392342492 | FBN1 | c.1526G>A (p.Gly509Asp) n.200G>A c.636+24100G>A (n.636+24100G>A) | ClinVar |
| 15 | g.48513613del | CA2695220367 | FBN1 | c.1526del (p.Gly509ValfsTer?) n.200del c.636+24100del (n.636+24100del) | ClinVar |
| 15 | g.48513612C>A | CA16614676 | FBN1 | c.1525G>T (p.Gly509Cys) n.199G>T c.636+24099G>T (n.636+24099G>T) | ClinVar dbSNP |
| 15 | g.48513612C= | CA2175531419 | FBN1 | c.1525G= (p.Gly509=) n.199G= c.636+24099G= (n.636+24099G=) | |
| 15 | g.48513612C>G | CA392342506 | FBN1 | c.1525G>C (p.Gly509Arg) n.199G>C c.636+24099G>C (n.636+24099G>C) | |
| 15 | g.48513612C>T | CA392342503 | FBN1 | c.1525G>A (p.Gly509Ser) n.199G>A c.636+24099G>A (n.636+24099G>A) | |
| 15 | g.48513612_48513614del | CA2580089674 | FBN1 | c.1523_1525del (p.Gln508_Gly509delinsArg) n.197_199del c.636+24097_636+24099del (n.636+24097_636+24099del) | ClinVar |
| 15 | g.48513613C>A | CA392342507 | FBN1 | c.1524G>T (p.Gln508His) n.198G>T c.636+24098G>T (n.636+24098G>T) | |
| 15 | g.48513613C= | CA2175531420 | FBN1 | c.1524G= (p.Gln508=) n.198G= c.636+24098G= (n.636+24098G=) | |
| 15 | g.48513613C>G | CA392342508 | FBN1 | c.1524G>C (p.Gln508His) n.198G>C c.636+24098G>C (n.636+24098G>C) | ClinVar dbSNP |
| 15 | g.48513613C>T | CA490028103 | FBN1 | c.1524G>A (p.Gln508=) n.198G>A c.636+24098G>A (n.636+24098G>A) | ClinVar |
| 15 | g.48513614T>A | CA392342510 | FBN1 | c.1523A>T (p.Gln508Leu) n.197A>T c.636+24097A>T (n.636+24097A>T) | |
| 15 | g.48513614T>C | CA392342511 | FBN1 | c.1523A>G (p.Gln508Arg) n.197A>G c.636+24097A>G (n.636+24097A>G) | |
| 15 | g.48513614T>G | CA392342513 | FBN1 | c.1523A>C (p.Gln508Pro) n.197A>C c.636+24097A>C (n.636+24097A>C) | |
| 15 | g.48513615G>A | CA16606736 | FBN1 | c.1522C>T (p.Gln508Ter) n.196C>T c.636+24096C>T (n.636+24096C>T) | ClinVar dbSNP |
| 15 | g.48513615G>C | CA392342517 | FBN1 | c.1522C>G (p.Gln508Glu) n.196C>G c.636+24096C>G (n.636+24096C>G) | |
| 15 | g.48513615G= | CA2175531421 | FBN1 | c.1522C= (p.Gln508=) n.196C= c.636+24096C= (n.636+24096C=) | |
| 15 | g.48513615G>T | CA392342520 | FBN1 | c.1522C>A (p.Gln508Lys) n.196C>A c.636+24096C>A (n.636+24096C>A) | |
| 15 | g.48513616del | CA2695220368 | FBN1 | c.1522del (p.Gln508ArgfsTer?) n.196del c.636+24096del (n.636+24096del) | |
| 15 | g.48513616G>A | CA490028113 | FBN1 | c.1521C>T (p.Asn507=) n.195C>T c.636+24095C>T (n.636+24095C>T) | |
| 15 | g.48513616G>C | CA392342524 | FBN1 | c.1521C>G (p.Asn507Lys) n.195C>G c.636+24095C>G (n.636+24095C>G) | |
| 15 | g.48513616G>T | CA392342528 | FBN1 | c.1521C>A (p.Asn507Lys) n.195C>A c.636+24095C>A (n.636+24095C>A) | |
| 15 | g.48513619_48513621del | CA2573332584 | FBN1 | c.1519_1521del (p.Asn507del) n.193_195del c.636+24093_636+24095del (n.636+24093_636+24095del) | |
| 15 | g.48513617T>A | CA392342537 | FBN1 | c.1520A>T (p.Asn507Ile) n.194A>T c.636+24094A>T (n.636+24094A>T) | |
| 15 | g.48513617T>C | CA269557531 | FBN1 | c.1520A>G (p.Asn507Ser) n.194A>G c.636+24094A>G (n.636+24094A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48513617T>G | CA392342532 | FBN1 | c.1520A>C (p.Asn507Thr) n.194A>C c.636+24094A>C (n.636+24094A>C) | |
| 15 | g.48513617T= | CA2175531422 | FBN1 | c.1520A= (p.Asn507=) n.194A= c.636+24094A= (n.636+24094A=) | |
| 15 | g.48513618del | CA2580089675 | FBN1 | c.1520del (p.Asn507ThrfsTer?) n.194del c.636+24094del (n.636+24094del) | ClinVar |
| 15 | g.48513617_48513624del | CA2499223014 | FBN1 | c.1513_1520del (p.Ile505ProfsTer25) n.187_194del c.636+24087_636+24094del (n.636+24087_636+24094del) | ClinVar dbSNP |
| 15 | g.48513618T>A | CA392342540 | FBN1 | c.1519A>T (p.Asn507Tyr) n.193A>T c.636+24093A>T (n.636+24093A>T) | |
| 15 | g.48513618T>C | CA392342543 | FBN1 | c.1519A>G (p.Asn507Asp) n.193A>G c.636+24093A>G (n.636+24093A>G) | |
| 15 | g.48513618T>G | CA392342545 | FBN1 | c.1519A>C (p.Asn507His) n.193A>C c.636+24093A>C (n.636+24093A>C) | gnomAD v4 |
| 15 | g.48513619G>A | CA490028122 | FBN1 | c.1518C>T (p.Asn506=) n.192C>T c.636+24092C>T (n.636+24092C>T) | |
| 15 | g.48513619G>C | CA392342549 | FBN1 | c.1518C>G (p.Asn506Lys) n.192C>G c.636+24092C>G (n.636+24092C>G) | ClinVar |
| 15 | g.48513619G>T | CA392342552 | FBN1 | c.1518C>A (p.Asn506Lys) n.192C>A c.636+24092C>A (n.636+24092C>A) | |
| 15 | g.48513620T>A | CA392342555 | FBN1 | c.1517A>T (p.Asn506Ile) n.191A>T c.636+24091A>T (n.636+24091A>T) | |
| 15 | g.48513620T>C | CA392342558 | FBN1 | c.1517A>G (p.Asn506Ser) n.191A>G c.636+24091A>G (n.636+24091A>G) | |
| 15 | g.48513620T>G | CA392342560 | FBN1 | c.1517A>C (p.Asn506Thr) n.191A>C c.636+24091A>C (n.636+24091A>C) | |
| 15 | g.48513621del | CA2695220369 | FBN1 | c.1517del (p.Asn506ThrfsTer?) n.191del c.636+24091del (n.636+24091del) | |
| 15 | g.48513621T>A | CA392342564 | FBN1 | c.1516A>T (p.Asn506Tyr) n.190A>T c.636+24090A>T (n.636+24090A>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48513621T>C | CA392342566 | FBN1 | c.1516A>G (p.Asn506Asp) n.190A>G c.636+24090A>G (n.636+24090A>G) | |
| 15 | g.48513621T>G | CA392342568 | FBN1 | c.1516A>C (p.Asn506His) n.190A>C c.636+24090A>C (n.636+24090A>C) | |
| 15 | g.48513622A>C | CA392342573 | FBN1 | c.1515T>G (p.Ile505Met) n.189T>G c.636+24089T>G (n.636+24089T>G) | |
| 15 | g.48513622A>G | CA490028132 | FBN1 | c.1515T>C (p.Ile505=) n.189T>C c.636+24089T>C (n.636+24089T>C) | |
| 15 | g.48513622A>T | CA490028134 | FBN1 | c.1515T>A (p.Ile505=) n.189T>A c.636+24089T>A (n.636+24089T>A) | |
| 15 | g.48513623dup | CA2695220370 | FBN1 | c.1515dup (p.Asn506Ter) n.189dup c.636+24089dup (n.636+24089dup) | |
| 15 | g.48513623A>C | CA392342579 | FBN1 | c.1514T>G (p.Ile505Ser) n.188T>G c.636+24088T>G (n.636+24088T>G) | |
| 15 | g.48513623A>G | CA392342582 | FBN1 | c.1514T>C (p.Ile505Thr) n.188T>C c.636+24088T>C (n.636+24088T>C) | |
| 15 | g.48513623A>T | CA392342578 | FBN1 | c.1514T>A (p.Ile505Asn) n.188T>A c.636+24088T>A (n.636+24088T>A) | |
| 15 | g.48513624T>A | CA392342587 | FBN1 | c.1513A>T (p.Ile505Phe) n.187A>T c.636+24087A>T (n.636+24087A>T) | |
| 15 | g.48513624T>C | CA392342589 | FBN1 | c.1513A>G (p.Ile505Val) n.187A>G c.636+24087A>G (n.636+24087A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48513624T>G | CA392342592 | FBN1 | c.1513A>C (p.Ile505Leu) n.187A>C c.636+24087A>C (n.636+24087A>C) | |
| 15 | g.48513624T= | CA2175531423 | FBN1 | c.1513A= (p.Ile505=) n.187A= c.636+24087A= (n.636+24087A=) | |
| 15 | g.48513625A= | CA2175531424 | FBN1 | c.1512T= (p.Cys504=) n.186T= c.636+24086T= (n.636+24086T=) | |
| 15 | g.48513625A>C | CA392342602 | FBN1 | c.1512T>G (p.Cys504Trp) n.186T>G c.636+24086T>G (n.636+24086T>G) | |
| 15 | g.48513625A>G | CA490028143 | FBN1 | c.1512T>C (p.Cys504=) n.186T>C c.636+24086T>C (n.636+24086T>C) | |
| 15 | g.48513625A>T | CA392342603 | FBN1 | c.1512T>A (p.Cys504Ter) n.186T>A c.636+24086T>A (n.636+24086T>A) | ClinVar dbSNP |
| 15 | g.48513626C>A | CA392342606 | FBN1 | c.1511G>T (p.Cys504Phe) n.185G>T c.636+24085G>T (n.636+24085G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48513626C= | CA2175531425 | FBN1 | c.1511G= (p.Cys504=) n.185G= c.636+24085G= (n.636+24085G=) | |
| 15 | g.48513626C>G | CA392342609 | FBN1 | c.1511G>C (p.Cys504Ser) n.185G>C c.636+24085G>C (n.636+24085G>C) | ClinVar dbSNP |
| 15 | g.48513626C>T | CA392342611 | FBN1 | c.1511G>A (p.Cys504Tyr) n.185G>A c.636+24085G>A (n.636+24085G>A) | ClinVar dbSNP |
| 15 | g.48513627A= | CA2175531426 | FBN1 | c.1510T= (p.Cys504=) n.184T= c.636+24084T= (n.636+24084T=) | |
| 15 | g.48513627A>C | CA392342614 | FBN1 | c.1510T>G (p.Cys504Gly) n.184T>G c.636+24084T>G (n.636+24084T>G) | |
| 15 | g.48513627A>G | CA392342617 | FBN1 | c.1510T>C (p.Cys504Arg) n.184T>C c.636+24084T>C (n.636+24084T>C) | ClinVar dbSNP |
| 15 | g.48513627A>T | CA392342618 | FBN1 | c.1510T>A (p.Cys504Ser) n.184T>A c.636+24084T>A (n.636+24084T>A) | ClinVar dbSNP |
| 15 | g.48513628C>A | CA392342624 | FBN1 | c.1509G>T (p.Glu503Asp) n.183G>T c.636+24083G>T (n.636+24083G>T) | |
| 15 | g.48513628C>G | CA392342627 | FBN1 | c.1509G>C (p.Glu503Asp) n.183G>C c.636+24083G>C (n.636+24083G>C) | gnomAD v4 |
| 15 | g.48513628C>T | CA490028152 | FBN1 | c.1509G>A (p.Glu503=) n.183G>A c.636+24083G>A (n.636+24083G>A) | |
| 15 | g.48513629T>A | CA392342637 | FBN1 | c.1508A>T (p.Glu503Val) n.182A>T c.636+24082A>T (n.636+24082A>T) | |
| 15 | g.48513629T>C | CA392342634 | FBN1 | c.1508A>G (p.Glu503Gly) n.182A>G c.636+24082A>G (n.636+24082A>G) | |
| 15 | g.48513629T>G | CA392342631 | FBN1 | c.1508A>C (p.Glu503Ala) n.182A>C c.636+24082A>C (n.636+24082A>C) | |
| 15 | g.48513630C>A | CA392342640 | FBN1 | c.1507G>T (p.Glu503Ter) n.181G>T c.636+24081G>T (n.636+24081G>T) | |
| 15 | g.48513630C= | CA2175531427 | FBN1 | c.1507G= (p.Glu503=) n.181G= c.636+24081G= (n.636+24081G=) | |
| 15 | g.48513630C>G | CA392342644 | FBN1 | c.1507G>C (p.Glu503Gln) n.181G>C c.636+24081G>C (n.636+24081G>C) | |
| 15 | g.48513630C>T | CA269557545 | FBN1 | c.1507G>A (p.Glu503Lys) n.181G>A c.636+24081G>A (n.636+24081G>A) | dbSNP gnomAD v4 |
| 15 | g.48513631del | CA2695220372 | FBN1 | c.1506del (p.Glu503SerfsTer?) n.180del c.636+24080del (n.636+24080del) | |
| 15 | g.48513631A= | CA2175531428 | FBN1 | c.1506T= (p.Gly502=) n.180T= c.636+24080T= (n.636+24080T=) | |
| 15 | g.48513631A>C | CA490028163 | FBN1 | c.1506T>G (p.Gly502=) n.180T>G c.636+24080T>G (n.636+24080T>G) | |
| 15 | g.48513631A>G | CA269557552 | FBN1 | c.1506T>C (p.Gly502=) n.180T>C c.636+24080T>C (n.636+24080T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48513631A>T | CA490028166 | FBN1 | c.1506T>A (p.Gly502=) n.180T>A c.636+24080T>A (n.636+24080T>A) | gnomAD v4 |
| 15 | g.48513632C>A | CA392342650 | FBN1 | c.1505G>T (p.Gly502Val) n.179G>T c.636+24079G>T (n.636+24079G>T) | |
| 15 | g.48513632C>G | CA392342655 | FBN1 | c.1505G>C (p.Gly502Ala) n.179G>C c.636+24079G>C (n.636+24079G>C) | |
| 15 | g.48513632C>T | CA392342657 | FBN1 | c.1505G>A (p.Gly502Asp) n.179G>A c.636+24079G>A (n.636+24079G>A) | |
| 15 | g.48513633del | CA2573150830 | FBN1 | c.1505del (p.Gly502ValfsTer?) n.179del c.636+24079del (n.636+24079del) | ClinVar dbSNP |
| 15 | g.48513633C>A | CA392342660 | FBN1 | c.1504G>T (p.Gly502Cys) n.178G>T c.636+24078G>T (n.636+24078G>T) | ClinVar dbSNP |
| 15 | g.48513633C= | CA2175531429 | FBN1 | c.1504G= (p.Gly502=) n.178G= c.636+24078G= (n.636+24078G=) | |
| 15 | g.48513633C>G | CA392342662 | FBN1 | c.1504G>C (p.Gly502Arg) n.178G>C c.636+24078G>C (n.636+24078G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48513633C>T | CA044885 | FBN1 | c.1504G>A (p.Gly502Ser) n.178G>A c.636+24078G>A (n.636+24078G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48513634A>C | CA490028175 | FBN1 | c.1503T>G (p.Gly501=) n.177T>G c.636+24077T>G (n.636+24077T>G) | |
| 15 | g.48513634A>G | CA490028176 | FBN1 | c.1503T>C (p.Gly501=) n.177T>C c.636+24077T>C (n.636+24077T>C) | |
| 15 | g.48513634A>T | CA490028178 | FBN1 | c.1503T>A (p.Gly501=) n.177T>A c.636+24077T>A (n.636+24077T>A) | gnomAD v4 |
| 15 | g.48513635C>A | CA392342666 | FBN1 | c.1502G>T (p.Gly501Val) n.176G>T c.636+24076G>T (n.636+24076G>T) | ClinVar gnomAD v4 |
| 15 | g.48513635C= | CA2175531430 | FBN1 | c.1502G= (p.Gly501=) n.176G= c.636+24076G= (n.636+24076G=) | |
| 15 | g.48513635C>G | CA392342668 | FBN1 | c.1502G>C (p.Gly501Ala) n.176G>C c.636+24076G>C (n.636+24076G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48513635C>T | CA392342669 | FBN1 | c.1502G>A (p.Gly501Asp) n.176G>A c.636+24076G>A (n.636+24076G>A) | |
| 15 | g.48513636C>A | CA392342670 | FBN1 | c.1501G>T (p.Gly501Cys) n.175G>T c.636+24075G>T (n.636+24075G>T) | |
| 15 | g.48513636C>G | CA392342673 | FBN1 | c.1501G>C (p.Gly501Arg) n.175G>C c.636+24075G>C (n.636+24075G>C) | |
| 15 | g.48513636C>T | CA392342672 | FBN1 | c.1501G>A (p.Gly501Ser) n.175G>A c.636+24075G>A (n.636+24075G>A) |