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.48503882_48503891delinsAGCACCAA | CA2580089583 | FBN1 | c.2009_2018delinsTTGGTGCT (p.Cys670PhefsTer10) n.683_692delinsTTGGTGCT c.637-29241_637-29232delinsTTGGTGCT (n.637-29241_637-29232delinsTTGGTGCT) | ClinVar |
| 15 | g.48503885T>A | CA392338543 | FBN1 | c.2015A>T (p.Lys672Ile) n.689A>T c.637-29235A>T (n.637-29235A>T) | |
| 15 | g.48503885T>C | CA392338546 | FBN1 | c.2015A>G (p.Lys672Arg) n.689A>G c.637-29235A>G (n.637-29235A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503885T>G | CA392338549 | FBN1 | c.2015A>C (p.Lys672Thr) n.689A>C c.637-29235A>C (n.637-29235A>C) | |
| 15 | g.48503885T= | CA2175526651 | FBN1 | c.2015A= (p.Lys672=) n.689A= c.637-29235A= (n.637-29235A=) | |
| 15 | g.48503886T>A | CA392338554 | FBN1 | c.2014A>T (p.Lys672Ter) n.688A>T c.637-29236A>T (n.637-29236A>T) | |
| 15 | g.48503886T>C | CA392338557 | FBN1 | c.2014A>G (p.Lys672Glu) n.688A>G c.637-29236A>G (n.637-29236A>G) | |
| 15 | g.48503886T>G | CA392338560 | FBN1 | c.2014A>C (p.Lys672Gln) n.688A>C c.637-29236A>C (n.637-29236A>C) | |
| 15 | g.48503887G>A | CA490024254 | FBN1 | c.2013C>T (p.Ile671=) n.687C>T c.637-29237C>T (n.637-29237C>T) | |
| 15 | g.48503887G>C | CA392338563 | FBN1 | c.2013C>G (p.Ile671Met) n.687C>G c.637-29237C>G (n.637-29237C>G) | gnomAD v4 COSMIC |
| 15 | g.48503887G>T | CA490024249 | FBN1 | c.2013C>A (p.Ile671=) n.687C>A c.637-29237C>A (n.637-29237C>A) | |
| 15 | g.48503888A>C | CA392338565 | FBN1 | c.2012T>G (p.Ile671Ser) n.686T>G c.637-29238T>G (n.637-29238T>G) | |
| 15 | g.48503888A>G | CA392338568 | FBN1 | c.2012T>C (p.Ile671Thr) n.686T>C c.637-29238T>C (n.637-29238T>C) | |
| 15 | g.48503888A>T | CA392338571 | FBN1 | c.2012T>A (p.Ile671Asn) n.686T>A c.637-29238T>A (n.637-29238T>A) | |
| 15 | g.48503889T>A | CA392338575 | FBN1 | c.2011A>T (p.Ile671Phe) n.685A>T c.637-29239A>T (n.637-29239A>T) | |
| 15 | g.48503889T>C | CA392338576 | FBN1 | c.2011A>G (p.Ile671Val) n.685A>G c.637-29239A>G (n.637-29239A>G) | |
| 15 | g.48503889T>G | CA392338578 | FBN1 | c.2011A>C (p.Ile671Leu) n.685A>C c.637-29239A>C (n.637-29239A>C) | gnomAD v4 |
| 15 | g.48503890A>C | CA392338581 | FBN1 | c.2010T>G (p.Cys670Trp) n.684T>G c.637-29240T>G (n.637-29240T>G) | |
| 15 | g.48503890A>G | CA490024268 | FBN1 | c.2010T>C (p.Cys670=) n.684T>C c.637-29240T>C (n.637-29240T>C) | |
| 15 | g.48503890A>T | CA392338585 | FBN1 | c.2010T>A (p.Cys670Ter) n.684T>A c.637-29240T>A (n.637-29240T>A) | |
| 15 | g.48503891C>A | CA392338588 | FBN1 | c.2009G>T (p.Cys670Phe) n.683G>T c.637-29241G>T (n.637-29241G>T) | |
| 15 | g.48503891C>G | CA392338592 | FBN1 | c.2009G>C (p.Cys670Ser) n.683G>C c.637-29241G>C (n.637-29241G>C) | ClinVar |
| 15 | g.48503891C>T | CA392338594 | FBN1 | c.2009G>A (p.Cys670Tyr) n.683G>A c.637-29241G>A (n.637-29241G>A) | |
| 15 | g.48503892A= | CA2175526653 | FBN1 | c.2008T= (p.Cys670=) n.682T= c.637-29242T= (n.637-29242T=) | |
| 15 | g.48503892A>C | CA392338597 | FBN1 | c.2008T>G (p.Cys670Gly) n.682T>G c.637-29242T>G (n.637-29242T>G) | |
| 15 | g.48503892A>G | CA392338599 | FBN1 | c.2008T>C (p.Cys670Arg) n.682T>C c.637-29242T>C (n.637-29242T>C) | gnomAD v4 |
| 15 | g.48503892A>T | CA392338602 | FBN1 | c.2008T>A (p.Cys670Ser) n.682T>A c.637-29242T>A (n.637-29242T>A) | |
| 15 | g.48503893C>A | CA392338605 | FBN1 | c.2007G>T (p.Gln669His) n.681G>T c.637-29243G>T (n.637-29243G>T) | |
| 15 | g.48503893C>G | CA392338609 | FBN1 | c.2007G>C (p.Gln669His) n.681G>C c.637-29243G>C (n.637-29243G>C) | gnomAD v4 |
| 15 | g.48503893C>T | CA490024283 | FBN1 | c.2007G>A (p.Gln669=) n.681G>A c.637-29243G>A (n.637-29243G>A) | ClinVar |
| 15 | g.48503895_48503899dup | CA16619972 | FBN1 | c.2003_2007dup (p.Cys670AlafsTer?) n.677_681dup c.637-29247_637-29243dup (n.637-29247_637-29243dup) | ClinVar dbSNP |
| 15 | g.48503894T>A | CA269549043 | FBN1 | c.2006A>T (p.Gln669Leu) n.680A>T c.637-29244A>T (n.637-29244A>T) | dbSNP gnomAD v4 COSMIC |
| 15 | g.48503894T>C | CA392338615 | FBN1 | c.2006A>G (p.Gln669Arg) n.680A>G c.637-29244A>G (n.637-29244A>G) | ClinVar dbSNP |
| 15 | g.48503894T>G | CA392338619 | FBN1 | c.2006A>C (p.Gln669Pro) n.680A>C c.637-29244A>C (n.637-29244A>C) | ClinVar |
| 15 | g.48503894T= | CA2175526661 | FBN1 | c.2006A= (p.Gln669=) n.680A= c.637-29244A= (n.637-29244A=) | |
| 15 | g.48503895G>A | CA392338628 | FBN1 | c.2005C>T (p.Gln669Ter) n.679C>T c.637-29245C>T (n.637-29245C>T) | ClinVar |
| 15 | g.48503895G>C | CA392338626 | FBN1 | c.2005C>G (p.Gln669Glu) n.679C>G c.637-29245C>G (n.637-29245C>G) | |
| 15 | g.48503895G>T | CA392338623 | FBN1 | c.2005C>A (p.Gln669Lys) n.679C>A c.637-29245C>A (n.637-29245C>A) | |
| 15 | g.48503896G>A | CA490024297 | FBN1 | c.2004C>T (p.Gly668=) n.678C>T c.637-29246C>T (n.637-29246C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503896G>C | CA490024299 | FBN1 | c.2004C>G (p.Gly668=) n.678C>G c.637-29246C>G (n.637-29246C>G) | |
| 15 | g.48503896G= | CA2175526666 | FBN1 | c.2004C= (p.Gly668=) n.678C= c.637-29246C= (n.637-29246C=) | |
| 15 | g.48503896G>T | CA490024301 | FBN1 | c.2004C>A (p.Gly668=) n.678C>A c.637-29246C>A (n.637-29246C>A) | |
| 15 | g.48503896_48503897delinsGC | CA2175526667 | FBN1 | c.2003_2004delinsGC (p.Gly668=) n.677_678delinsGC c.637-29247_637-29246delinsGC (n.637-29247_637-29246delinsGC) | |
| 15 | g.48503897C>A | CA392338632 | FBN1 | c.2003G>T (p.Gly668Val) n.677G>T c.637-29247G>T (n.637-29247G>T) | COSMIC |
| 15 | g.48503897C>G | CA392338637 | FBN1 | c.2003G>C (p.Gly668Ala) n.677G>C c.637-29247G>C (n.637-29247G>C) | |
| 15 | g.48503897C>T | CA392338639 | FBN1 | c.2003G>A (p.Gly668Asp) n.677G>A c.637-29247G>A (n.637-29247G>A) | |
| 15 | g.48503897delinsATACA | CA658798347 | FBN1 | c.2003delinsTGTAT (p.Gly668ValfsTer14) n.677delinsTGTAT c.637-29247delinsTGTAT (n.637-29247delinsTGTAT) | ClinVar dbSNP |
| 15 | g.48503898C>A | CA392338645 | FBN1 | c.2002G>T (p.Gly668Cys) n.676G>T c.637-29248G>T (n.637-29248G>T) | |
| 15 | g.48503898C>G | CA392338648 | FBN1 | c.2002G>C (p.Gly668Arg) n.676G>C c.637-29248G>C (n.637-29248G>C) | |
| 15 | g.48503898C>T | CA392338649 | FBN1 | c.2002G>A (p.Gly668Ser) n.676G>A c.637-29248G>A (n.637-29248G>A) | gnomAD v4 |
| 15 | g.48503899T>A | CA392338652 | FBN1 | c.2001A>T (p.Arg667Ser) n.675A>T c.637-29249A>T (n.637-29249A>T) | |
| 15 | g.48503899T>C | CA490024315 | FBN1 | c.2001A>G (p.Arg667=) n.675A>G c.637-29249A>G (n.637-29249A>G) | ClinVar dbSNP |
| 15 | g.48503899T>G | CA392338655 | FBN1 | c.2001A>C (p.Arg667Ser) n.675A>C c.637-29249A>C (n.637-29249A>C) | |
| 15 | g.48503899T= | CA2175526677 | FBN1 | c.2001A= (p.Arg667=) n.675A= c.637-29249A= (n.637-29249A=) | |
| 15 | g.48503900C>A | CA392338660 | FBN1 | c.2000G>T (p.Arg667Ile) n.674G>T c.637-29250G>T (n.637-29250G>T) | |
| 15 | g.48503900C= | CA2175526681 | FBN1 | c.2000G= (p.Arg667=) n.674G= c.637-29250G= (n.637-29250G=) | |
| 15 | g.48503900C>G | CA392338662 | FBN1 | c.2000G>C (p.Arg667Thr) n.674G>C c.637-29250G>C (n.637-29250G>C) | |
| 15 | g.48503900C>T | CA392338666 | FBN1 | c.2000G>A (p.Arg667Lys) n.674G>A c.637-29250G>A (n.637-29250G>A) | ClinVar dbSNP |
| 15 | g.48503901T>A | CA392338673 | FBN1 | c.1999A>T (p.Arg667Ter) n.673A>T c.637-29251A>T (n.637-29251A>T) | ClinVar dbSNP |
| 15 | g.48503901T>C | CA392338679 | FBN1 | c.1999A>G (p.Arg667Gly) n.673A>G c.637-29251A>G (n.637-29251A>G) | |
| 15 | g.48503901T>G | CA490024324 | FBN1 | c.1999A>C (p.Arg667=) n.673A>C c.637-29251A>C (n.637-29251A>C) | |
| 15 | g.48503901T= | CA2175526688 | FBN1 | c.1999A= (p.Arg667=) n.673A= c.637-29251A= (n.637-29251A=) | |
| 15 | g.48503902C>A | CA392338682 | FBN1 | c.1998G>T (p.Lys666Asn) n.672G>T c.637-29252G>T (n.637-29252G>T) | |
| 15 | g.48503902C>G | CA392338684 | FBN1 | c.1998G>C (p.Lys666Asn) n.672G>C c.637-29252G>C (n.637-29252G>C) | dbSNP |
| 15 | g.48503902C>T | CA490024332 | FBN1 | c.1998G>A (p.Lys666=) n.672G>A c.637-29252G>A (n.637-29252G>A) | ClinVar |
| 15 | g.48503903T>A | CA392338689 | FBN1 | c.1997A>T (p.Lys666Met) n.671A>T c.637-29253A>T (n.637-29253A>T) | COSMIC |
| 15 | g.48503903T>C | CA392338692 | FBN1 | c.1997A>G (p.Lys666Arg) n.671A>G c.637-29253A>G (n.637-29253A>G) | gnomAD v4 |
| 15 | g.48503903T>G | CA392338695 | FBN1 | c.1997A>C (p.Lys666Thr) n.671A>C c.637-29253A>C (n.637-29253A>C) | |
| 15 | g.48503904T>A | CA392338697 | FBN1 | c.1996A>T (p.Lys666Ter) n.670A>T c.637-29254A>T (n.637-29254A>T) | |
| 15 | g.48503904T>C | CA392338700 | FBN1 | c.1996A>G (p.Lys666Glu) n.670A>G c.637-29254A>G (n.637-29254A>G) | |
| 15 | g.48503904T>G | CA392338703 | FBN1 | c.1996A>C (p.Lys666Gln) n.670A>C c.637-29254A>C (n.637-29254A>C) | |
| 15 | g.48503905G>A | CA490024345 | FBN1 | c.1995C>T (p.Tyr665=) n.669C>T c.637-29255C>T (n.637-29255C>T) | |
| 15 | g.48503905G>C | CA392338706 | FBN1 | c.1995C>G (p.Tyr665Ter) n.669C>G c.637-29255C>G (n.637-29255C>G) | ClinVar dbSNP |
| 15 | g.48503905G>T | CA392338708 | FBN1 | c.1995C>A (p.Tyr665Ter) n.669C>A c.637-29255C>A (n.637-29255C>A) | ClinVar dbSNP |
| 15 | g.48503906T>A | CA392338713 | FBN1 | c.1994A>T (p.Tyr665Phe) n.668A>T c.637-29256A>T (n.637-29256A>T) | |
| 15 | g.48503906T>C | CA392338715 | FBN1 | c.1994A>G (p.Tyr665Cys) n.668A>G c.637-29256A>G (n.637-29256A>G) | |
| 15 | g.48503906T>G | CA392338718 | FBN1 | c.1994A>C (p.Tyr665Ser) n.668A>C c.637-29256A>C (n.637-29256A>C) | |
| 15 | g.48503907A>C | CA392338727 | FBN1 | c.1993T>G (p.Tyr665Asp) n.667T>G c.637-29257T>G (n.637-29257T>G) | |
| 15 | g.48503907A>G | CA392338723 | FBN1 | c.1993T>C (p.Tyr665His) n.667T>C c.637-29257T>C (n.637-29257T>C) | |
| 15 | g.48503907A>T | CA392338721 | FBN1 | c.1993T>A (p.Tyr665Asn) n.667T>A c.637-29257T>A (n.637-29257T>A) | |
| 15 | g.48503908T>A | CA046571 | FBN1 | c.1992A>T (p.Gly664=) n.666A>T c.637-29258A>T (n.637-29258A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503908T>C | CA490024361 | FBN1 | c.1992A>G (p.Gly664=) n.666A>G c.637-29258A>G (n.637-29258A>G) | gnomAD v4 |
| 15 | g.48503908T>G | CA490024364 | FBN1 | c.1992A>C (p.Gly664=) n.666A>C c.637-29258A>C (n.637-29258A>C) | ClinVar |
| 15 | g.48503908T= | CA2175526695 | FBN1 | c.1992A= (p.Gly664=) n.666A= c.637-29258A= (n.637-29258A=) | |
| 15 | g.48503909C>A | CA392338740 | FBN1 | c.1991G>T (p.Gly664Val) n.665G>T c.637-29259G>T (n.637-29259G>T) | |
| 15 | g.48503909C= | CA2175526700 | FBN1 | c.1991G= (p.Gly664=) n.665G= c.637-29259G= (n.637-29259G=) | |
| 15 | g.48503909C>G | CA392338735 | FBN1 | c.1991G>C (p.Gly664Ala) n.665G>C c.637-29259G>C (n.637-29259G>C) | |
| 15 | g.48503909C>T | CA392338738 | FBN1 | c.1991G>A (p.Gly664Glu) n.665G>A c.637-29259G>A (n.637-29259G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503910C>A | CA392338741 | FBN1 | c.1990G>T (p.Gly664Ter) n.664G>T c.637-29260G>T (n.637-29260G>T) | |
| 15 | g.48503910C>G | CA392338743 | FBN1 | c.1990G>C (p.Gly664Arg) n.664G>C c.637-29260G>C (n.637-29260G>C) | gnomAD v4 |
| 15 | g.48503910C>T | CA392338745 | FBN1 | c.1990G>A (p.Gly664Arg) n.664G>A c.637-29260G>A (n.637-29260G>A) | |
| 15 | g.48503911A>C | CA490024377 | FBN1 | c.1989T>G (p.Gly663=) n.663T>G c.637-29261T>G (n.637-29261T>G) | |
| 15 | g.48503911A>G | CA490024378 | FBN1 | c.1989T>C (p.Gly663=) n.663T>C c.637-29261T>C (n.637-29261T>C) | |
| 15 | g.48503911A>T | CA490024381 | FBN1 | c.1989T>A (p.Gly663=) n.663T>A c.637-29261T>A (n.637-29261T>A) | |
| 15 | g.48503912C>A | CA392338748 | FBN1 | c.1988G>T (p.Gly663Val) n.662G>T c.637-29262G>T (n.637-29262G>T) | |
| 15 | g.48503912C>G | CA392338750 | FBN1 | c.1988G>C (p.Gly663Ala) n.662G>C c.637-29262G>C (n.637-29262G>C) | |
| 15 | g.48503912C>T | CA392338752 | FBN1 | c.1988G>A (p.Gly663Asp) n.662G>A c.637-29262G>A (n.637-29262G>A) | |
| 15 | g.48503913C>A | CA392338755 | FBN1 | c.1987G>T (p.Gly663Cys) n.661G>T c.637-29263G>T (n.637-29263G>T) | |
| 15 | g.48503913C>G | CA392338756 | FBN1 | c.1987G>C (p.Gly663Arg) n.661G>C c.637-29263G>C (n.637-29263G>C) | |
| 15 | g.48503913C>T | CA392338757 | FBN1 | c.1987G>A (p.Gly663Ser) n.661G>A c.637-29263G>A (n.637-29263G>A) | gnomAD v4 |
| 15 | g.48503914A>C | CA392338760 | FBN1 | c.1986T>G (p.Tyr662Ter) n.660T>G c.637-29264T>G (n.637-29264T>G) | |
| 15 | g.48503914A>G | CA490024396 | FBN1 | c.1986T>C (p.Tyr662=) n.660T>C c.637-29264T>C (n.637-29264T>C) | gnomAD v4 |
| 15 | g.48503914A>T | CA392338762 | FBN1 | c.1986T>A (p.Tyr662Ter) n.660T>A c.637-29264T>A (n.637-29264T>A) | |
| 15 | g.48503915T>A | CA392338769 | FBN1 | c.1985A>T (p.Tyr662Phe) n.659A>T c.637-29265A>T (n.637-29265A>T) | |
| 15 | g.48503915T>C | CA392338765 | FBN1 | c.1985A>G (p.Tyr662Cys) n.659A>G c.637-29265A>G (n.637-29265A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503915T>G | CA392338766 | FBN1 | c.1985A>C (p.Tyr662Ser) n.659A>C c.637-29265A>C (n.637-29265A>C) | |
| 15 | g.48503915T= | CA2175526704 | FBN1 | c.1985A= (p.Tyr662=) n.659A= c.637-29265A= (n.637-29265A=) | |
| 15 | g.48503916A= | CA2175526706 | FBN1 | c.1984T= (p.Tyr662=) n.658T= c.637-29266T= (n.637-29266T=) | |
| 15 | g.48503916A>C | CA392338771 | FBN1 | c.1984T>G (p.Tyr662Asp) n.658T>G c.637-29266T>G (n.637-29266T>G) | ClinVar |
| 15 | g.48503916A>G | CA392338775 | FBN1 | c.1984T>C (p.Tyr662His) n.658T>C c.637-29266T>C (n.637-29266T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503916A>T | CA392338777 | FBN1 | c.1984T>A (p.Tyr662Asn) n.658T>A c.637-29266T>A (n.637-29266T>A) | |
| 15 | g.48503917G>A | CA046561 | FBN1 | c.1983C>T (p.Cys661=) n.657C>T c.637-29267C>T (n.637-29267C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503917G>C | CA392338780 | FBN1 | c.1983C>G (p.Cys661Trp) n.657C>G c.637-29267C>G (n.637-29267C>G) | ClinVar dbSNP |
| 15 | g.48503917G= | CA2175526711 | FBN1 | c.1983C= (p.Cys661=) n.657C= c.637-29267C= (n.637-29267C=) | |
| 15 | g.48503917G>T | CA392338781 | FBN1 | c.1983C>A (p.Cys661Ter) n.657C>A c.637-29267C>A (n.637-29267C>A) | |
| 15 | g.48503918C>A | CA392338783 | FBN1 | c.1982G>T (p.Cys661Phe) n.656G>T c.637-29268G>T (n.637-29268G>T) | |
| 15 | g.48503918C= | CA2175526715 | FBN1 | c.1982G= (p.Cys661=) n.656G= c.637-29268G= (n.637-29268G=) | |
| 15 | g.48503918C>G | CA392338785 | FBN1 | c.1982G>C (p.Cys661Ser) n.656G>C c.637-29268G>C (n.637-29268G>C) | |
| 15 | g.48503918C>T | CA16614668 | FBN1 | c.1982G>A (p.Cys661Tyr) n.656G>A c.637-29268G>A (n.637-29268G>A) | ClinVar dbSNP |
| 15 | g.48503918_48503938delinsCATGTGCTCCGCATGTGTGTG | CA2175526716 | FBN1 | c.1962_1982delinsCACACACATGCGGAGCACATG (p.Asp654=) n.636_656delinsCACACACATGCGGAGCACATG c.637-29288_637-29268delinsCACACACATGCGGAGCACATG (n.637-29288_637-29268delinsCACACACATGCGGAGCACATG) | |
| 15 | g.48503919A>C | CA392338789 | FBN1 | c.1981T>G (p.Cys661Gly) n.655T>G c.637-29269T>G (n.637-29269T>G) | |
| 15 | g.48503919A>G | CA392338791 | FBN1 | c.1981T>C (p.Cys661Arg) n.655T>C c.637-29269T>C (n.637-29269T>C) | |
| 15 | g.48503919A>T | CA392338793 | FBN1 | c.1981T>A (p.Cys661Ser) n.655T>A c.637-29269T>A (n.637-29269T>A) | |
| 15 | g.48503919dup | CA916082405 | FBN1 | c.1981dup (p.Cys661LeufsTer20) n.655dup c.637-29269dup (n.637-29269dup) | ClinVar dbSNP |
| 15 | g.48503919_48503938delinsCT | CA915946595 | FBN1 | c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly) n.636_655delinsAG c.637-29288_637-29269delinsAG (n.637-29288_637-29269delinsAG) | ClinVar dbSNP |
| 15 | g.48503920del | CA2695220768 | FBN1 | c.1980del (p.Cys661AlafsTer?) n.654del c.637-29270del (n.637-29270del) | |
| 15 | g.48503920T>A | CA490024423 | FBN1 | c.1980A>T (p.Thr660=) n.654A>T c.637-29270A>T (n.637-29270A>T) | |
| 15 | g.48503920T>C | CA269549074 | FBN1 | c.1980A>G (p.Thr660=) n.654A>G c.637-29270A>G (n.637-29270A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503920T>G | CA490024425 | FBN1 | c.1980A>C (p.Thr660=) n.654A>C c.637-29270A>C (n.637-29270A>C) | |
| 15 | g.48503920T= | CA2175526724 | FBN1 | c.1980A= (p.Thr660=) n.654A= c.637-29270A= (n.637-29270A=) | |
| 15 | g.48503921del | CA2695220769 | FBN1 | c.1979del (p.Thr660AsnfsTer?) n.653del c.637-29271del (n.637-29271del) | |
| 15 | g.48503921G>A | CA392338803 | FBN1 | c.1979C>T (p.Thr660Ile) n.653C>T c.637-29271C>T (n.637-29271C>T) | |
| 15 | g.48503921G>C | CA392338798 | FBN1 | c.1979C>G (p.Thr660Arg) n.653C>G c.637-29271C>G (n.637-29271C>G) | |
| 15 | g.48503921G>T | CA392338801 | FBN1 | c.1979C>A (p.Thr660Lys) n.653C>A c.637-29271C>A (n.637-29271C>A) | |
| 15 | g.48503922T>A | CA392338806 | FBN1 | c.1978A>T (p.Thr660Ser) n.652A>T c.637-29272A>T (n.637-29272A>T) | |
| 15 | g.48503922T>C | CA392338808 | FBN1 | c.1978A>G (p.Thr660Ala) n.652A>G c.637-29272A>G (n.637-29272A>G) | |
| 15 | g.48503922T>G | CA392338810 | FBN1 | c.1978A>C (p.Thr660Pro) n.652A>C c.637-29272A>C (n.637-29272A>C) | |
| 15 | g.48503923G>A | CA046540 | FBN1 | c.1977C>T (p.Ser659=) n.651C>T c.637-29273C>T (n.637-29273C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503923G>C | CA392338815 | FBN1 | c.1977C>G (p.Ser659Arg) n.651C>G c.637-29273C>G (n.637-29273C>G) | |
| 15 | g.48503923G= | CA2175526726 | FBN1 | c.1977C= (p.Ser659=) n.651C= c.637-29273C= (n.637-29273C=) | |
| 15 | g.48503923G>T | CA392338813 | FBN1 | c.1977C>A (p.Ser659Arg) n.651C>A c.637-29273C>A (n.637-29273C>A) | |
| 15 | g.48503924C>A | CA392338818 | FBN1 | c.1976G>T (p.Ser659Ile) n.650G>T c.637-29274G>T (n.637-29274G>T) | |
| 15 | g.48503924C>G | CA392338820 | FBN1 | c.1976G>C (p.Ser659Thr) n.650G>C c.637-29274G>C (n.637-29274G>C) | |
| 15 | g.48503924C>T | CA392338822 | FBN1 | c.1976G>A (p.Ser659Asn) n.650G>A c.637-29274G>A (n.637-29274G>A) | |
| 15 | g.48503925T>A | CA392338825 | FBN1 | c.1975A>T (p.Ser659Cys) n.649A>T c.637-29275A>T (n.637-29275A>T) | |
| 15 | g.48503925T>C | CA392338827 | FBN1 | c.1975A>G (p.Ser659Gly) n.649A>G c.637-29275A>G (n.637-29275A>G) | |
| 15 | g.48503925T>G | CA392338829 | FBN1 | c.1975A>C (p.Ser659Arg) n.649A>C c.637-29275A>C (n.637-29275A>C) | |
| 15 | g.48503926C>A | CA490024454 | FBN1 | c.1974G>T (p.Arg658=) n.648G>T c.637-29276G>T (n.637-29276G>T) | |
| 15 | g.48503926C>G | CA490024459 | FBN1 | c.1974G>C (p.Arg658=) n.648G>C c.637-29276G>C (n.637-29276G>C) | |
| 15 | g.48503926C>T | CA490024457 | FBN1 | c.1974G>A (p.Arg658=) n.648G>A c.637-29276G>A (n.637-29276G>A) | |
| 15 | g.48503927C>A | CA392338832 | FBN1 | c.1973G>T (p.Arg658Leu) n.647G>T c.637-29277G>T (n.637-29277G>T) | |
| 15 | g.48503927C= | CA2175526730 | FBN1 | c.1973G= (p.Arg658=) n.647G= c.637-29277G= (n.637-29277G=) | |
| 15 | g.48503927C>G | CA392338836 | FBN1 | c.1973G>C (p.Arg658Pro) n.647G>C c.637-29277G>C (n.637-29277G>C) | |
| 15 | g.48503927C>T | CA012694 | FBN1 | c.1973G>A (p.Arg658Gln) n.647G>A c.637-29277G>A (n.637-29277G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503928G>A | CA046530 | FBN1 | c.1972C>T (p.Arg658Trp) n.646C>T c.637-29278C>T (n.637-29278C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503928G>C | CA392338845 | FBN1 | c.1972C>G (p.Arg658Gly) n.646C>G c.637-29278C>G (n.637-29278C>G) | |
| 15 | g.48503928G= | CA2175526734 | FBN1 | c.1972C= (p.Arg658=) n.646C= c.637-29278C= (n.637-29278C=) | |
| 15 | g.48503928G>T | CA490024471 | FBN1 | c.1972C>A (p.Arg658=) n.646C>A c.637-29278C>A (n.637-29278C>A) | |
| 15 | g.48503929C>A | CA392338847 | FBN1 | c.1971G>T (p.Met657Ile) n.645G>T c.637-29279G>T (n.637-29279G>T) | |
| 15 | g.48503929C>G | CA392338848 | FBN1 | c.1971G>C (p.Met657Ile) n.645G>C c.637-29279G>C (n.637-29279G>C) | |
| 15 | g.48503929C>T | CA392338850 | FBN1 | c.1971G>A (p.Met657Ile) n.645G>A c.637-29279G>A (n.637-29279G>A) | |
| 15 | g.48503929dup | CA2695220770 | FBN1 | c.1971dup (p.Arg658AlafsTer23) n.645dup c.637-29279dup (n.637-29279dup) | |
| 15 | g.48503930A= | CA2175526739 | FBN1 | c.1970T= (p.Met657=) n.644T= c.637-29280T= (n.637-29280T=) | |
| 15 | g.48503930A>C | CA392338852 | FBN1 | c.1970T>G (p.Met657Arg) n.644T>G c.637-29280T>G (n.637-29280T>G) | |
| 15 | g.48503930A>G | CA392338854 | FBN1 | c.1970T>C (p.Met657Thr) n.644T>C c.637-29280T>C (n.637-29280T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503930A>T | CA392338856 | FBN1 | c.1970T>A (p.Met657Lys) n.644T>A c.637-29280T>A (n.637-29280T>A) | |
| 15 | g.48503930_48503931del | CA2573150780 | FBN1 | c.1969_1970del (p.Met657AlafsTer23) n.643_644del c.637-29281_637-29280del (n.637-29281_637-29280del) | ClinVar dbSNP |
| 15 | g.48503930_48503932delinsATG | CA2175526737 | FBN1 | c.1968_1970delinsCAT (p.His656=) n.642_644delinsCAT c.637-29282_637-29280delinsCAT (n.637-29282_637-29280delinsCAT) | |
| 15 | g.48503931T>A | CA392338859 | FBN1 | c.1969A>T (p.Met657Leu) n.643A>T c.637-29281A>T (n.637-29281A>T) | |
| 15 | g.48503931T>C | CA392338861 | FBN1 | c.1969A>G (p.Met657Val) n.643A>G c.637-29281A>G (n.637-29281A>G) | |
| 15 | g.48503931T>G | CA392338863 | FBN1 | c.1969A>C (p.Met657Leu) n.643A>C c.637-29281A>C (n.637-29281A>C) | |
| 15 | g.48503938_48503939dup | CA2824998302 | FBN1 | c.1968_1969dup (p.Met657ThrfsTer?) n.642_643dup c.637-29282_637-29281dup (n.637-29282_637-29281dup) | |
| 15 | g.48503938_48503939del | CA658824472 | FBN1 | c.1968_1969del (p.Met657AlafsTer23) n.642_643del c.637-29282_637-29281del (n.637-29282_637-29281del) | ClinVar dbSNP |
| 15 | g.48503932G>A | CA490024488 | FBN1 | c.1968C>T (p.His656=) n.642C>T c.637-29282C>T (n.637-29282C>T) | ClinVar dbSNP |
| 15 | g.48503932G>C | CA392338868 | FBN1 | c.1968C>G (p.His656Gln) n.642C>G c.637-29282C>G (n.637-29282C>G) | |
| 15 | g.48503932G= | CA2175526746 | FBN1 | c.1968C= (p.His656=) n.642C= c.637-29282C= (n.637-29282C=) | |
| 15 | g.48503932G>T | CA392338866 | FBN1 | c.1968C>A (p.His656Gln) n.642C>A c.637-29282C>A (n.637-29282C>A) | |
| 15 | g.48503933T>A | CA392338871 | FBN1 | c.1967A>T (p.His656Leu) n.641A>T c.637-29283A>T (n.637-29283A>T) | |
| 15 | g.48503933T>C | CA392338875 | FBN1 | c.1967A>G (p.His656Arg) n.641A>G c.637-29283A>G (n.637-29283A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503933T>G | CA392338873 | FBN1 | c.1967A>C (p.His656Pro) n.641A>C c.637-29283A>C (n.637-29283A>C) | |
| 15 | g.48503933T= | CA2175526749 | FBN1 | c.1967A= (p.His656=) n.641A= c.637-29283A= (n.637-29283A=) | |
| 15 | g.48503934G>A | CA392338878 | FBN1 | c.1966C>T (p.His656Tyr) n.640C>T c.637-29284C>T (n.637-29284C>T) | |
| 15 | g.48503934G>C | CA392338882 | FBN1 | c.1966C>G (p.His656Asp) n.640C>G c.637-29284C>G (n.637-29284C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503934G= | CA2175526751 | FBN1 | c.1966C= (p.His656=) n.640C= c.637-29284C= (n.637-29284C=) | |
| 15 | g.48503934G>T | CA392338880 | FBN1 | c.1966C>A (p.His656Asn) n.640C>A c.637-29284C>A (n.637-29284C>A) | |
| 15 | g.48503935T>A | CA490024508 | FBN1 | c.1965A>T (p.Thr655=) n.639A>T c.637-29285A>T (n.637-29285A>T) | |
| 15 | g.48503935T>C | CA490024504 | FBN1 | c.1965A>G (p.Thr655=) n.639A>G c.637-29285A>G (n.637-29285A>G) | |
| 15 | g.48503935T>G | CA490024506 | FBN1 | c.1965A>C (p.Thr655=) n.639A>C c.637-29285A>C (n.637-29285A>C) | |
| 15 | g.48503936G>A | CA392338885 | FBN1 | c.1964C>T (p.Thr655Ile) n.638C>T c.637-29286C>T (n.637-29286C>T) | ClinVar |
| 15 | g.48503936G>C | CA046522 | FBN1 | c.1964C>G (p.Thr655Arg) n.638C>G c.637-29286C>G (n.637-29286C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503936G= | CA2175526752 | FBN1 | c.1964C= (p.Thr655=) n.638C= c.637-29286C= (n.637-29286C=) | |
| 15 | g.48503936G>T | CA392338888 | FBN1 | c.1964C>A (p.Thr655Lys) n.638C>A c.637-29286C>A (n.637-29286C>A) | |
| 15 | g.48503937T>A | CA392338892 | FBN1 | c.1963A>T (p.Thr655Ser) n.637A>T c.637-29287A>T (n.637-29287A>T) | |
| 15 | g.48503937T>C | CA392338894 | FBN1 | c.1963A>G (p.Thr655Ala) n.637A>G c.637-29287A>G (n.637-29287A>G) | ClinVar |
| 15 | g.48503937T>G | CA392338896 | FBN1 | c.1963A>C (p.Thr655Pro) n.637A>C c.637-29287A>C (n.637-29287A>C) | |
| 15 | g.48503938G>A | CA490024519 | FBN1 | c.1962C>T (p.Asp654=) n.636C>T c.637-29288C>T (n.637-29288C>T) | ClinVar |
| 15 | g.48503938G>C | CA392338898 | FBN1 | c.1962C>G (p.Asp654Glu) n.636C>G c.637-29288C>G (n.637-29288C>G) | |
| 15 | g.48503938G>T | CA392338900 | FBN1 | c.1962C>A (p.Asp654Glu) n.636C>A c.637-29288C>A (n.637-29288C>A) | gnomAD v4 |
| 15 | g.48503939T>A | CA392338903 | FBN1 | c.1961A>T (p.Asp654Val) n.635A>T c.637-29289A>T (n.637-29289A>T) | |
| 15 | g.48503939T>C | CA392338906 | FBN1 | c.1961A>G (p.Asp654Gly) n.635A>G c.637-29289A>G (n.637-29289A>G) | |
| 15 | g.48503939T>G | CA392338907 | FBN1 | c.1961A>C (p.Asp654Ala) n.635A>C c.637-29289A>C (n.637-29289A>C) | |
| 15 | g.48503940del | CA2695220771 | FBN1 | c.1961-1del (n.1961-1del) n.635-1del c.637-29290del (n.637-29290del) | |
| 15 | g.48503940C>A | CA392338910 | FBN1 | c.1961-1G>T (n.1961-1G>T) n.635-1G>T c.637-29290G>T (n.637-29290G>T) | COSMIC |
| 15 | g.48503940C= | CA2175526755 | FBN1 | c.1961-1G= (n.1961-1G=) n.635-1G= c.637-29290G= (n.637-29290G=) | |
| 15 | g.48503940C>G | CA392338912 | FBN1 | c.1961-1G>C (n.1961-1G>C) n.635-1G>C c.637-29290G>C (n.637-29290G>C) | |
| 15 | g.48503940C>T | CA392338914 | FBN1 | c.1961-1G>A (n.1961-1G>A) n.635-1G>A c.637-29290G>A (n.637-29290G>A) | ClinVar dbSNP |
| 15 | g.48503941T>A | CA392338920 | FBN1 | c.1961-2A>T (n.1961-2A>T) n.635-2A>T c.637-29291A>T (n.637-29291A>T) | COSMIC |
| 15 | g.48503941T>C | CA392338918 | FBN1 | c.1961-2A>G (n.1961-2A>G) n.635-2A>G c.637-29291A>G (n.637-29291A>G) | ClinVar dbSNP |
| 15 | g.48503941T>G | CA392338916 | FBN1 | c.1961-2A>C (n.1961-2A>C) n.635-2A>C c.637-29291A>C (n.637-29291A>C) | |
| 15 | g.48503941T= | CA2175526756 | FBN1 | c.1961-2A= (n.1961-2A=) n.635-2A= c.637-29291A= (n.637-29291A=) | |
| 15 | g.48503942A= | CA2175526758 | FBN1 | c.1961-3T= (n.1961-3T=) n.635-3T= c.637-29292T= (n.637-29292T=) | |
| 15 | g.48503942A>C | CA923726065 | FBN1 | c.1961-3T>G (n.1961-3T>G) n.635-3T>G c.637-29292T>G (n.637-29292T>G) | |
| 15 | g.48503942A>G | CA046495 | FBN1 | c.1961-3T>C (n.1961-3T>C) n.635-3T>C c.637-29292T>C (n.637-29292T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503942A>T | CA2628335791 | FBN1 | c.1961-3T>A (n.1961-3T>A) n.635-3T>A c.637-29292T>A (n.637-29292T>A) | gnomAD v4 |
| 15 | g.48503943A>G | CA2575717507 | FBN1 | c.1961-4T>C (n.1961-4T>C) n.635-4T>C c.637-29293T>C (n.637-29293T>C) | |
| 15 | g.48503944A= | CA2175526759 | FBN1 | c.1961-5T= (n.1961-5T=) n.635-5T= c.637-29294T= (n.637-29294T=) | |
| 15 | g.48503944A>G | CA269549140 | FBN1 | c.1961-5T>C (n.1961-5T>C) n.635-5T>C c.637-29294T>C (n.637-29294T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503945_48503946del | CA2580089602 | FBN1 | c.1961-6_1961-5del (n.1961-6_1961-5del) n.635-6_635-5del c.637-29295_637-29294del (n.637-29295_637-29294del) | ClinVar gnomAD v4 |
| 15 | g.48503946A= | CA2175526760 | FBN1 | c.1961-7T= (n.1961-7T=) n.635-7T= c.637-29296T= (n.637-29296T=) | |
| 15 | g.48503946A>G | CA10583252 | FBN1 | c.1961-7T>C (n.1961-7T>C) n.635-7T>C c.637-29296T>C (n.637-29296T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503947G>A | CA269549152 | FBN1 | c.1961-8C>T (n.1961-8C>T) n.635-8C>T c.637-29297C>T (n.637-29297C>T) | dbSNP |
| 15 | g.48503947G= | CA2175526763 | FBN1 | c.1961-8C= (n.1961-8C=) n.635-8C= c.637-29297C= (n.637-29297C=) | |
| 15 | g.48503948del | CA2804072075 | FBN1 | c.1961-8del (n.1961-8del) n.635-8del c.637-29297del (n.637-29297del) | |
| 15 | g.48503948G>C | CA617839087 | FBN1 | c.1961-9C>G (n.1961-9C>G) n.635-9C>G c.637-29298C>G (n.637-29298C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503948G= | CA2175526764 | FBN1 | c.1961-9C= (n.1961-9C=) n.635-9C= c.637-29298C= (n.637-29298C=) | |
| 15 | g.48503953A= | CA2175526766 | FBN1 | c.1961-14T= (n.1961-14T=) n.635-14T= c.637-29303T= (n.637-29303T=) | |
| 15 | g.48503953A>G | CA046443 | FBN1 | c.1961-14T>C (n.1961-14T>C) n.635-14T>C c.637-29303T>C (n.637-29303T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503954G>C | CA1139663975 | FBN1 | c.1961-15C>G (n.1961-15C>G) n.635-15C>G c.637-29304C>G (n.637-29304C>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503954G= | CA2175526767 | FBN1 | c.1961-15C= (n.1961-15C=) n.635-15C= c.637-29304C= (n.637-29304C=) | |
| 15 | g.48503954G>T | CA2628335792 | FBN1 | c.1961-15C>A (n.1961-15C>A) n.635-15C>A c.637-29304C>A (n.637-29304C>A) | gnomAD v4 |
| 15 | g.48503955C= | CA2175526769 | FBN1 | c.1961-16G= (n.1961-16G=) n.635-16G= c.637-29305G= (n.637-29305G=) | |
| 15 | g.48503955C>T | CA617839088 | FBN1 | c.1961-16G>A (n.1961-16G>A) n.635-16G>A c.637-29305G>A (n.637-29305G>A) | dbSNP gnomAD v2 |
| 15 | g.48503956A>G | CA2628335793 | FBN1 | c.1961-17T>C (n.1961-17T>C) n.635-17T>C c.637-29306T>C (n.637-29306T>C) | gnomAD v4 |
| 15 | g.48503957T>C | CA2628335794 | FBN1 | c.1961-18A>G (n.1961-18A>G) n.635-18A>G c.637-29307A>G (n.637-29307A>G) | ClinVar gnomAD v4 |
| 15 | g.48503958C>T | CA2628335795 | FBN1 | c.1961-19G>A (n.1961-19G>A) n.635-19G>A c.637-29308G>A (n.637-29308G>A) | gnomAD v4 |
| 15 | g.48503959T>C | CA656136115 | FBN1 | c.1961-20A>G (n.1961-20A>G) n.635-20A>G c.637-29309A>G (n.637-29309A>G) | COSMIC |
| 15 | g.48503959T>G | CA2175526771 | FBN1 | c.1961-20A>C (n.1961-20A>C) n.635-20A>C c.637-29309A>C (n.637-29309A>C) | dbSNP |
| 15 | g.48503959T= | CA2175526770 | FBN1 | c.1961-20A= (n.1961-20A=) n.635-20A= c.637-29309A= (n.637-29309A=) | |
| 15 | g.48503960G>A | CA2175526773 | FBN1 | c.1961-21C>T (n.1961-21C>T) n.635-21C>T c.637-29310C>T (n.637-29310C>T) | dbSNP gnomAD v4 |
| 15 | g.48503960G= | CA2175526772 | FBN1 | c.1961-21C= (n.1961-21C=) n.635-21C= c.637-29310C= (n.637-29310C=) | |
| 15 | g.48503961T>G | CA2575717508 | FBN1 | c.1961-22A>C (n.1961-22A>C) n.635-22A>C c.637-29311A>C (n.637-29311A>C) | |
| 15 | g.48503962C>A | CA2628335796 | FBN1 | c.1961-23G>T (n.1961-23G>T) n.635-23G>T c.637-29312G>T (n.637-29312G>T) | gnomAD v4 |
| 15 | g.48503963A>T | CA2628335797 | FBN1 | c.1961-24T>A (n.1961-24T>A) n.635-24T>A c.637-29313T>A (n.637-29313T>A) | gnomAD v4 |
| 15 | g.48503964T>C | CA046449 | FBN1 | c.1961-25A>G (n.1961-25A>G) n.635-25A>G c.637-29314A>G (n.637-29314A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48503964T= | CA2175526774 | FBN1 | c.1961-25A= (n.1961-25A=) n.635-25A= c.637-29314A= (n.637-29314A=) | |
| 15 | g.48503966A>C | CA2628335798 | FBN1 | c.1961-27T>G (n.1961-27T>G) n.635-27T>G c.637-29316T>G (n.637-29316T>G) | gnomAD v4 |
| 15 | g.48503967C>T | CA2558579544 | FBN1 | c.1961-28G>A (n.1961-28G>A) n.635-28G>A c.637-29317G>A (n.637-29317G>A) | gnomAD v4 |
| 15 | g.48503968A= | CA2175526776 | FBN1 | c.1961-29T= (n.1961-29T=) n.635-29T= c.637-29318T= (n.637-29318T=) | |
| 15 | g.48503968A>G | CA046455 | FBN1 | c.1961-29T>C (n.1961-29T>C) n.635-29T>C c.637-29318T>C (n.637-29318T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503968A>T | CA2628335799 | FBN1 | c.1961-29T>A (n.1961-29T>A) n.635-29T>A c.637-29318T>A (n.637-29318T>A) | gnomAD v4 |
| 15 | g.48503969C= | CA2175526777 | FBN1 | c.1961-30G= (n.1961-30G=) n.635-30G= c.637-29319G= (n.637-29319G=) | |
| 15 | g.48503969C>T | CA969562725 | FBN1 | c.1961-30G>A (n.1961-30G>A) n.635-30G>A c.637-29319G>A (n.637-29319G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503971G>A | CA046465 | FBN1 | c.1961-32C>T (n.1961-32C>T) n.635-32C>T c.637-29321C>T (n.637-29321C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503971G= | CA2175526778 | FBN1 | c.1961-32C= (n.1961-32C=) n.635-32C= c.637-29321C= (n.637-29321C=) | |
| 15 | g.48503972T>C | CA617839089 | FBN1 | c.1961-33A>G (n.1961-33A>G) n.635-33A>G c.637-29322A>G (n.637-29322A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503972T= | CA2175526779 | FBN1 | c.1961-33A= (n.1961-33A=) n.635-33A= c.637-29322A= (n.637-29322A=) | |
| 15 | g.48503973C>A | CA2628335800 | FBN1 | c.1961-34G>T (n.1961-34G>T) n.635-34G>T c.637-29323G>T (n.637-29323G>T) | gnomAD v4 |
| 15 | g.48503974A>G | CA2518098547 | FBN1 | c.1961-35T>C (n.1961-35T>C) n.635-35T>C c.637-29324T>C (n.637-29324T>C) | |
| 15 | g.48503975C>T | CA2575717509 | FBN1 | c.1961-36G>A (n.1961-36G>A) n.635-36G>A c.637-29325G>A (n.637-29325G>A) | |
| 15 | g.48503978C>A | CA713414078 | FBN1 | c.1961-39G>T (n.1961-39G>T) n.635-39G>T c.637-29328G>T (n.637-29328G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503978C= | CA2175526781 | FBN1 | c.1961-39G= (n.1961-39G=) n.635-39G= c.637-29328G= (n.637-29328G=) | |
| 15 | g.48503978C>G | CA046485 | FBN1 | c.1961-39G>C (n.1961-39G>C) n.635-39G>C c.637-29328G>C (n.637-29328G>C) | dbSNP ExAC gnomAD v2 |
| 15 | g.48503979A>C | CA2575717510 | FBN1 | c.1961-40T>G (n.1961-40T>G) n.635-40T>G c.637-29329T>G (n.637-29329T>G) | |
| 15 | g.48503980A>G | CA2628335801 | FBN1 | c.1961-41T>C (n.1961-41T>C) n.635-41T>C c.637-29330T>C (n.637-29330T>C) | gnomAD v4 |
| 15 | g.48503982C>A | CA2628335802 | FBN1 | c.1961-43G>T (n.1961-43G>T) n.635-43G>T c.637-29332G>T (n.637-29332G>T) | gnomAD v4 |
| 15 | g.48503983A= | CA2175526783 | FBN1 | c.1961-44T= (n.1961-44T=) n.635-44T= c.637-29333T= (n.637-29333T=) | |
| 15 | g.48503983A>C | CA269549225 | FBN1 | c.1961-44T>G (n.1961-44T>G) n.635-44T>G c.637-29333T>G (n.637-29333T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503983A>G | CA656136117 | FBN1 | c.1961-44T>C (n.1961-44T>C) n.635-44T>C c.637-29333T>C (n.637-29333T>C) | COSMIC |
| 15 | g.48503983A>T | CA2175526784 | FBN1 | c.1961-44T>A (n.1961-44T>A) n.635-44T>A c.637-29333T>A (n.637-29333T>A) | dbSNP gnomAD v4 |
| 15 | g.48503984G>A | CA617839090 | FBN1 | c.1961-45C>T (n.1961-45C>T) n.635-45C>T c.637-29334C>T (n.637-29334C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503984G= | CA2175526785 | FBN1 | c.1961-45C= (n.1961-45C=) n.635-45C= c.637-29334C= (n.637-29334C=) | |
| 15 | g.48503984G>T | CA617839091 | FBN1 | c.1961-45C>A (n.1961-45C>A) n.635-45C>A c.637-29334C>A (n.637-29334C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503985A= | CA2175526788 | FBN1 | c.1961-46T= (n.1961-46T=) n.635-46T= c.637-29335T= (n.637-29335T=) | |
| 15 | g.48503985A>G | CA2175526787 | FBN1 | c.1961-46T>C (n.1961-46T>C) n.635-46T>C c.637-29335T>C (n.637-29335T>C) | dbSNP |