Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128537475_128537489dup | CA2739275011 | FBN2 | c.116_130dup (p.Pro43_Pro44insArgProGlnProPro) n.736_750dup | ClinVar |
5 | g.128537483G>A | CA360762699 | FBN2 | c.121C>T (p.Gln41Ter) n.741C>T | gnomAD v4 |
5 | g.128537483G>C | CA127059013 | FBN2 | c.121C>G (p.Gln41Glu) n.741C>G | dbSNP gnomAD v2 |
5 | g.128537483G= | CA1581363552 | FBN2 | c.121C= (p.Gln41=) n.741C= | |
5 | g.128537483G>T | CA360762706 | FBN2 | c.121C>A (p.Gln41Lys) n.741C>A | gnomAD v4 |
5 | g.128537486del | CA2675122314 | FBN2 | c.121del (p.Gln41SerfsTer19) n.741del | gnomAD v4 |
5 | g.128537484G>A | CA446308965 | FBN2 | c.120C>T (p.Pro40=) n.740C>T | ClinVar dbSNP gnomAD v4 |
5 | g.128537484G>C | CA446308967 | FBN2 | c.120C>G (p.Pro40=) n.740C>G | |
5 | g.128537484G= | CA1581363553 | FBN2 | c.120C= (p.Pro40=) n.740C= | |
5 | g.128537484G>T | CA446308966 | FBN2 | c.120C>A (p.Pro40=) n.740C>A | gnomAD v4 |
5 | g.128537485G>A | CA3396219 | FBN2 | c.119C>T (p.Pro40Leu) n.739C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537485G>C | CA360762717 | FBN2 | c.119C>G (p.Pro40Arg) n.739C>G | |
5 | g.128537485G= | CA1581363554 | FBN2 | c.119C= (p.Pro40=) n.739C= | |
5 | g.128537485G>T | CA360762713 | FBN2 | c.119C>A (p.Pro40His) n.739C>A | gnomAD v4 |
5 | g.128537486G>A | CA360762723 | FBN2 | c.118C>T (p.Pro40Ser) n.738C>T | ClinVar dbSNP |
5 | g.128537486G>C | CA360762726 | FBN2 | c.118C>G (p.Pro40Ala) n.738C>G | |
5 | g.128537486G>T | CA360762730 | FBN2 | c.118C>A (p.Pro40Thr) n.738C>A | gnomAD v4 |
5 | g.128537487C>A | CA3396220 | FBN2 | c.117G>T (p.Arg39=) n.737G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537487C= | CA1581363555 | FBN2 | c.117G= (p.Arg39=) n.737G= | |
5 | g.128537487C>G | CA446308968 | FBN2 | c.117G>C (p.Arg39=) n.737G>C | |
5 | g.128537487C>T | CA446308969 | FBN2 | c.117G>A (p.Arg39=) n.737G>A | gnomAD v4 |
5 | g.128537488del | CA2697546459 | FBN2 | c.117del (p.Gln41SerfsTer19) n.737del | ClinVar |
5 | g.128537488C>A | CA360762734 | FBN2 | c.116G>T (p.Arg39Leu) n.736G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537488C= | CA1581363556 | FBN2 | c.116G= (p.Arg39=) n.736G= | |
5 | g.128537488C>G | CA360762737 | FBN2 | c.116G>C (p.Arg39Pro) n.736G>C | ClinVar gnomAD v4 |
5 | g.128537488C>T | CA3396221 | FBN2 | c.116G>A (p.Arg39Gln) n.736G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537489G>A | CA360762740 | FBN2 | c.115C>T (p.Arg39Trp) n.735C>T | gnomAD v4 |
5 | g.128537489G>C | CA16618113 | FBN2 | c.115C>G (p.Arg39Gly) n.735C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537489G= | CA1581363557 | FBN2 | c.115C= (p.Arg39=) n.735C= | |
5 | g.128537489G>T | CA3396222 | FBN2 | c.115C>A (p.Arg39=) n.735C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537492del | CA2675122315 | FBN2 | c.115del (p.Arg39GlyfsTer21) n.735del | gnomAD v4 |
5 | g.128537490G>A | CA3396223 | FBN2 | c.114C>T (p.Pro38=) n.734C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537490G>C | CA446308970 | FBN2 | c.114C>G (p.Pro38=) n.734C>G | |
5 | g.128537490G= | CA1581363558 | FBN2 | c.114C= (p.Pro38=) n.734C= | |
5 | g.128537490G>T | CA127059065 | FBN2 | c.114C>A (p.Pro38=) n.734C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537491G>A | CA360762754 | FBN2 | c.113C>T (p.Pro38Leu) n.733C>T | gnomAD v4 |
5 | g.128537491G>C | CA360762758 | FBN2 | c.113C>G (p.Pro38Arg) n.733C>G | |
5 | g.128537491G>T | CA360762773 | FBN2 | c.113C>A (p.Pro38His) n.733C>A | |
5 | g.128537492G>A | CA127059067 | FBN2 | c.112C>T (p.Pro38Ser) n.732C>T | ClinVar dbSNP gnomAD v4 |
5 | g.128537492G>C | CA360762779 | FBN2 | c.112C>G (p.Pro38Ala) n.732C>G | |
5 | g.128537492G= | CA1581363559 | FBN2 | c.112C= (p.Pro38=) n.732C= | |
5 | g.128537492G>T | CA360762785 | FBN2 | c.112C>A (p.Pro38Thr) n.732C>A | |
5 | g.128537493C>A | CA446308972 | FBN2 | c.111G>T (p.Pro37=) n.731G>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537493C= | CA1581363560 | FBN2 | c.111G= (p.Pro37=) n.731G= | |
5 | g.128537493C>G | CA446308971 | FBN2 | c.111G>C (p.Pro37=) n.731G>C | ClinVar dbSNP gnomAD v4 |
5 | g.128537493C>T | CA152819 | FBN2 | c.111G>A (p.Pro37=) n.731G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537494G>A | CA360762802 | FBN2 | c.110C>T (p.Pro37Leu) n.730C>T | gnomAD v4 |
5 | g.128537494G>C | CA360762793 | FBN2 | c.110C>G (p.Pro37Arg) n.730C>G | |
5 | g.128537494G= | CA1581363561 | FBN2 | c.110C= (p.Pro37=) n.730C= | |
5 | g.128537494G>T | CA238729 | FBN2 | c.110C>A (p.Pro37Gln) n.730C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537495G>A | CA360762809 | FBN2 | c.109C>T (p.Pro37Ser) n.729C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537495G>C | CA360762819 | FBN2 | c.109C>G (p.Pro37Ala) n.729C>G | |
5 | g.128537495G= | CA1581363562 | FBN2 | c.109C= (p.Pro37=) n.729C= | |
5 | g.128537495G>T | CA360762813 | FBN2 | c.109C>A (p.Pro37Thr) n.729C>A | |
5 | g.128537495_128537496del | CA2604175762 | FBN2 | c.108_109del (p.Lys36AsnfsTer19) n.728_729del | gnomAD v3 gnomAD v4 |
5 | g.128537496C>A | CA360762825 | FBN2 | c.108G>T (p.Lys36Asn) n.728G>T | |
5 | g.128537496C= | CA1581363563 | FBN2 | c.108G= (p.Lys36=) n.728G= | |
5 | g.128537496C>G | CA360762829 | FBN2 | c.108G>C (p.Lys36Asn) n.728G>C | dbSNP |
5 | g.128537496C>T | CA446308973 | FBN2 | c.108G>A (p.Lys36=) n.728G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537497T>A | CA360762835 | FBN2 | c.107A>T (p.Lys36Met) n.727A>T | |
5 | g.128537497T>C | CA360762840 | FBN2 | c.107A>G (p.Lys36Arg) n.727A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128537497T>G | CA360762843 | FBN2 | c.107A>C (p.Lys36Thr) n.727A>C | |
5 | g.128537497T= | CA1581363564 | FBN2 | c.107A= (p.Lys36=) n.727A= | |
5 | g.128537498T>A | CA360762849 | FBN2 | c.106A>T (p.Lys36Ter) n.726A>T | |
5 | g.128537498T>C | CA3396224 | FBN2 | c.106A>G (p.Lys36Glu) n.726A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537498T>G | CA127059082 | FBN2 | c.106A>C (p.Lys36Gln) n.726A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537498T= | CA1581363565 | FBN2 | c.106A= (p.Lys36=) n.726A= | |
5 | g.128537498_128537500del | CA2604175763 | FBN2 | c.104_106del (p.Pro35_Lys36delinsGln) n.724_726del | gnomAD v3 gnomAD v4 |
5 | g.128537499G>A | CA446308974 | FBN2 | c.105C>T (p.Pro35=) n.725C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537499G>C | CA446308975 | FBN2 | c.105C>G (p.Pro35=) n.725C>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537499G= | CA1581363566 | FBN2 | c.105C= (p.Pro35=) n.725C= | |
5 | g.128537499G>T | CA446308976 | FBN2 | c.105C>A (p.Pro35=) n.725C>A | gnomAD v4 |
5 | g.128537500G>A | CA360762857 | FBN2 | c.104C>T (p.Pro35Leu) n.724C>T | ClinVar dbSNP |
5 | g.128537500G>C | CA360762862 | FBN2 | c.104C>G (p.Pro35Arg) n.724C>G | |
5 | g.128537500G>T | CA360762870 | FBN2 | c.104C>A (p.Pro35His) n.724C>A | gnomAD v4 |
5 | g.128537501G>A | CA360762881 | FBN2 | c.103C>T (p.Pro35Ser) n.723C>T | |
5 | g.128537501G>C | CA360762877 | FBN2 | c.103C>G (p.Pro35Ala) n.723C>G | |
5 | g.128537501G>T | CA360762874 | FBN2 | c.103C>A (p.Pro35Thr) n.723C>A | |
5 | g.128537502C>A | CA446308977 | FBN2 | c.102G>T (p.Pro34=) n.722G>T | gnomAD v4 |
5 | g.128537502C>G | CA446308978 | FBN2 | c.102G>C (p.Pro34=) n.722G>C | |
5 | g.128537502C>T | CA446308979 | FBN2 | c.102G>A (p.Pro34=) n.722G>A | ClinVar gnomAD v4 |
5 | g.128537503G>A | CA3396225 | FBN2 | c.101C>T (p.Pro34Leu) n.721C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537503G>C | CA360762882 | FBN2 | c.101C>G (p.Pro34Arg) n.721C>G | |
5 | g.128537503G= | CA1581363567 | FBN2 | c.101C= (p.Pro34=) n.721C= | |
5 | g.128537503G>T | CA360762883 | FBN2 | c.101C>A (p.Pro34Gln) n.721C>A | gnomAD v4 |
5 | g.128537508_128537510del | CA2768336807 | FBN2 | c.99_101del (p.Pro34del) n.719_721del | |
5 | g.128537504G>A | CA3396226 | FBN2 | c.100C>T (p.Pro34Ser) n.720C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537504G>C | CA360762887 | FBN2 | c.100C>G (p.Pro34Ala) n.720C>G | |
5 | g.128537504G= | CA1581363568 | FBN2 | c.100C= (p.Pro34=) n.720C= | |
5 | g.128537504G>T | CA3396227 | FBN2 | c.100C>A (p.Pro34Thr) n.720C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537505A= | CA1581363569 | FBN2 | c.99T= (p.Pro33=) n.719T= | |
5 | g.128537505A>C | CA446308980 | FBN2 | c.99T>G (p.Pro33=) n.719T>G | |
5 | g.128537505A>G | CA446308981 | FBN2 | c.99T>C (p.Pro33=) n.719T>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537505A>T | CA446308982 | FBN2 | c.99T>A (p.Pro33=) n.719T>A | |
5 | g.128537506G>A | CA127059128 | FBN2 | c.98C>T (p.Pro33Leu) n.718C>T | dbSNP gnomAD v4 |
5 | g.128537506G>C | CA360762894 | FBN2 | c.98C>G (p.Pro33Arg) n.718C>G | |
5 | g.128537506G= | CA1581363570 | FBN2 | c.98C= (p.Pro33=) n.718C= | |
5 | g.128537506G>T | CA360762895 | FBN2 | c.98C>A (p.Pro33His) n.718C>A | gnomAD v4 |
5 | g.128537507G>A | CA360762896 | FBN2 | c.97C>T (p.Pro33Ser) n.717C>T | gnomAD v4 |
5 | g.128537507G>C | CA360762898 | FBN2 | c.97C>G (p.Pro33Ala) n.717C>G | |
5 | g.128537507G>T | CA360762901 | FBN2 | c.97C>A (p.Pro33Thr) n.717C>A | gnomAD v4 |
5 | g.128537514_128537519dup | CA2578396991 | FBN2 | c.92_97dup (p.Pro32_Pro33insGlnPro) n.712_717dup | |
5 | g.128537508A= | CA1581363571 | FBN2 | c.96T= (p.Pro32=) n.716T= | |
5 | g.128537508A>C | CA446308983 | FBN2 | c.96T>G (p.Pro32=) n.716T>G | |
5 | g.128537508A>G | CA446308984 | FBN2 | c.96T>C (p.Pro32=) n.716T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537508A>T | CA446308985 | FBN2 | c.96T>A (p.Pro32=) n.716T>A | gnomAD v4 |
5 | g.128537509G>A | CA3396228 | FBN2 | c.95C>T (p.Pro32Leu) n.715C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537509G>C | CA360762918 | FBN2 | c.95C>G (p.Pro32Arg) n.715C>G | gnomAD v4 |
5 | g.128537509G= | CA1581363572 | FBN2 | c.95C= (p.Pro32=) n.715C= | |
5 | g.128537509G>T | CA360762912 | FBN2 | c.95C>A (p.Pro32His) n.715C>A | gnomAD v4 |
5 | g.128537510G>A | CA360762933 | FBN2 | c.94C>T (p.Pro32Ser) n.714C>T | dbSNP gnomAD v4 |
5 | g.128537510G>C | CA360762925 | FBN2 | c.94C>G (p.Pro32Ala) n.714C>G | |
5 | g.128537510G= | CA1581363573 | FBN2 | c.94C= (p.Pro32=) n.714C= | |
5 | g.128537510G>T | CA360762931 | FBN2 | c.94C>A (p.Pro32Thr) n.714C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537511C>A | CA3396229 | FBN2 | c.93G>T (p.Gln31His) n.713G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537511C= | CA1581363574 | FBN2 | c.93G= (p.Gln31=) n.713G= | |
5 | g.128537511C>G | CA360762942 | FBN2 | c.93G>C (p.Gln31His) n.713G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537511C>T | CA446308986 | FBN2 | c.93G>A (p.Gln31=) n.713G>A | gnomAD v4 |
5 | g.128537512T>A | CA360762947 | FBN2 | c.92A>T (p.Gln31Leu) n.712A>T | |
5 | g.128537512T>C | CA360762950 | FBN2 | c.92A>G (p.Gln31Arg) n.712A>G | |
5 | g.128537512T>G | CA360762951 | FBN2 | c.92A>C (p.Gln31Pro) n.712A>C | dbSNP gnomAD v4 |
5 | g.128537512T= | CA1581363575 | FBN2 | c.92A= (p.Gln31=) n.712A= | |
5 | g.128537513G>A | CA360762952 | FBN2 | c.91C>T (p.Gln31Ter) n.711C>T | ClinVar |
5 | g.128537513G>C | CA360762955 | FBN2 | c.91C>G (p.Gln31Glu) n.711C>G | |
5 | g.128537513G>T | CA360762953 | FBN2 | c.91C>A (p.Gln31Lys) n.711C>A | gnomAD v4 |
5 | g.128537514A= | CA1581363576 | FBN2 | c.90T= (p.Pro30=) n.710T= | |
5 | g.128537514A>C | CA446308988 | FBN2 | c.90T>G (p.Pro30=) n.710T>G | |
5 | g.128537514A>G | CA3396230 | FBN2 | c.90T>C (p.Pro30=) n.710T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537514A>T | CA446308987 | FBN2 | c.90T>A (p.Pro30=) n.710T>A | |
5 | g.128537514_128537517dup | CA2578396992 | FBN2 | c.87_90dup (p.Gln31AlafsTer26) n.707_710dup | |
5 | g.128537515G>A | CA3396231 | FBN2 | c.89C>T (p.Pro30Leu) n.709C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537515G>C | CA360762971 | FBN2 | c.89C>G (p.Pro30Arg) n.709C>G | |
5 | g.128537515G= | CA1581363577 | FBN2 | c.89C= (p.Pro30=) n.709C= | |
5 | g.128537515G>T | CA360762979 | FBN2 | c.89C>A (p.Pro30His) n.709C>A | |
5 | g.128537516_128537517insTTGG | CA2578396993 | FBN2 | c.89_90insAACC (p.Gln31ThrfsTer26) n.709_710insAACC | |
5 | g.128537518_128537521dup | CA2675122316 | FBN2 | c.86_89dup (p.Gln31AlafsTer26) n.706_709dup | gnomAD v4 |
5 | g.128537516G>A | CA360762982 | FBN2 | c.88C>T (p.Pro30Ser) n.708C>T | gnomAD v4 |
5 | g.128537516G>C | CA360762989 | FBN2 | c.88C>G (p.Pro30Ala) n.708C>G | gnomAD v4 |
5 | g.128537516G>T | CA360762986 | FBN2 | c.88C>A (p.Pro30Thr) n.708C>A | gnomAD v4 |
5 | g.128537517C>A | CA360762993 | FBN2 | c.87G>T (p.Gln29His) n.707G>T | gnomAD v4 |
5 | g.128537517C>G | CA360762996 | FBN2 | c.87G>C (p.Gln29His) n.707G>C | |
5 | g.128537517C>T | CA446308989 | FBN2 | c.87G>A (p.Gln29=) n.707G>A | |
5 | g.128537518T>A | CA360763000 | FBN2 | c.86A>T (p.Gln29Leu) n.706A>T | |
5 | g.128537518T>C | CA360763001 | FBN2 | c.86A>G (p.Gln29Arg) n.706A>G | |
5 | g.128537518T>G | CA3396232 | FBN2 | c.86A>C (p.Gln29Pro) n.706A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537518T= | CA1581363578 | FBN2 | c.86A= (p.Gln29=) n.706A= | |
5 | g.128537519G>A | CA360763004 | FBN2 | c.85C>T (p.Gln29Ter) n.705C>T | gnomAD v4 |
5 | g.128537519G>C | CA360763007 | FBN2 | c.85C>G (p.Gln29Glu) n.705C>G | |
5 | g.128537519G>T | CA360763010 | FBN2 | c.85C>A (p.Gln29Lys) n.705C>A | gnomAD v4 |
5 | g.128537520G>A | CA446309002 | FBN2 | c.84C>T (p.Gly28=) n.704C>T | gnomAD v4 |
5 | g.128537520G>C | CA446309003 | FBN2 | c.84C>G (p.Gly28=) n.704C>G | |
5 | g.128537520G= | CA1581363579 | FBN2 | c.84C= (p.Gly28=) n.704C= | |
5 | g.128537520G>T | CA446309004 | FBN2 | c.84C>A (p.Gly28=) n.704C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537521C>A | CA360763017 | FBN2 | c.83G>T (p.Gly28Val) n.703G>T | |
5 | g.128537521C= | CA1581363580 | FBN2 | c.83G= (p.Gly28=) n.703G= | |
5 | g.128537521C>G | CA360763021 | FBN2 | c.83G>C (p.Gly28Ala) n.703G>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537521C>T | CA127059171 | FBN2 | c.83G>A (p.Gly28Asp) n.703G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537522C>A | CA3396233 | FBN2 | c.82G>T (p.Gly28Cys) n.702G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537522C= | CA1581363581 | FBN2 | c.82G= (p.Gly28=) n.702G= | |
5 | g.128537522C>G | CA360763033 | FBN2 | c.82G>C (p.Gly28Arg) n.702G>C | ClinVar dbSNP gnomAD v4 |
5 | g.128537522C>T | CA360763026 | FBN2 | c.82G>A (p.Gly28Ser) n.702G>A | gnomAD v4 |
5 | g.128537523G>A | CA319917 | FBN2 | c.81C>T (p.Ala27=) n.701C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537523G>C | CA446309008 | FBN2 | c.81C>G (p.Ala27=) n.701C>G | dbSNP gnomAD v4 |
5 | g.128537523G= | CA1581363582 | FBN2 | c.81C= (p.Ala27=) n.701C= | |
5 | g.128537523G>T | CA127059204 | FBN2 | c.81C>A (p.Ala27=) n.701C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537524G>A | CA360763050 | FBN2 | c.80C>T (p.Ala27Val) n.700C>T | ClinVar dbSNP gnomAD v4 |
5 | g.128537524G>C | CA360763042 | FBN2 | c.80C>G (p.Ala27Gly) n.700C>G | gnomAD v4 |
5 | g.128537524G= | CA1581363583 | FBN2 | c.80C= (p.Ala27=) n.700C= | |
5 | g.128537524G>T | CA360763046 | FBN2 | c.80C>A (p.Ala27Asp) n.700C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537525C>A | CA360763051 | FBN2 | c.79G>T (p.Ala27Ser) n.699G>T | |
5 | g.128537525C>G | CA360763052 | FBN2 | c.79G>C (p.Ala27Pro) n.699G>C | |
5 | g.128537525C>T | CA360763053 | FBN2 | c.79G>A (p.Ala27Thr) n.699G>A | |
5 | g.128537526C>A | CA446309009 | FBN2 | c.78G>T (p.Thr26=) n.698G>T | ClinVar gnomAD v4 COSMIC COSMIC |
5 | g.128537526C= | CA1581363584 | FBN2 | c.78G= (p.Thr26=) n.698G= | |
5 | g.128537526C>G | CA446309010 | FBN2 | c.78G>C (p.Thr26=) n.698G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537526C>T | CA446309011 | FBN2 | c.78G>A (p.Thr26=) n.698G>A | gnomAD v4 |
5 | g.128537527G>A | CA360763057 | FBN2 | c.77C>T (p.Thr26Met) n.697C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537527G>C | CA360763059 | FBN2 | c.77C>G (p.Thr26Arg) n.697C>G | |
5 | g.128537527G= | CA1581363585 | FBN2 | c.77C= (p.Thr26=) n.697C= | |
5 | g.128537527G>T | CA360763064 | FBN2 | c.77C>A (p.Thr26Lys) n.697C>A | gnomAD v4 |
5 | g.128537528T>A | CA360763067 | FBN2 | c.76A>T (p.Thr26Ser) n.696A>T | |
5 | g.128537528T>C | CA322091 | FBN2 | c.76A>G (p.Thr26Ala) n.696A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537528T>G | CA360763074 | FBN2 | c.76A>C (p.Thr26Pro) n.696A>C | |
5 | g.128537528T= | CA1581363586 | FBN2 | c.76A= (p.Thr26=) n.696A= | |
5 | g.128537529G>A | CA446309015 | FBN2 | c.75C>T (p.Gly25=) n.695C>T | |
5 | g.128537529G>C | CA446309016 | FBN2 | c.75C>G (p.Gly25=) n.695C>G | |
5 | g.128537529G= | CA1581363587 | FBN2 | c.75C= (p.Gly25=) n.695C= | |
5 | g.128537529G>T | CA3396234 | FBN2 | c.75C>A (p.Gly25=) n.695C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537530C>A | CA360763088 | FBN2 | c.74G>T (p.Gly25Val) n.694G>T | gnomAD v4 |
5 | g.128537530C>G | CA360763091 | FBN2 | c.74G>C (p.Gly25Ala) n.694G>C | |
5 | g.128537530C>T | CA360763093 | FBN2 | c.74G>A (p.Gly25Asp) n.694G>A | ClinVar dbSNP gnomAD v4 |
5 | g.128537531C>A | CA360763096 | FBN2 | c.73G>T (p.Gly25Cys) n.693G>T | |
5 | g.128537531C= | CA1581363588 | FBN2 | c.73G= (p.Gly25=) n.693G= | |
5 | g.128537531C>G | CA360763099 | FBN2 | c.73G>C (p.Gly25Arg) n.693G>C | |
5 | g.128537531C>T | CA3396235 | FBN2 | c.73G>A (p.Gly25Ser) n.693G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537532C>A | CA360763102 | FBN2 | c.72G>T (p.Gln24His) n.692G>T | |
5 | g.128537532C= | CA1581363589 | FBN2 | c.72G= (p.Gln24=) n.692G= | |
5 | g.128537532C>G | CA360763106 | FBN2 | c.72G>C (p.Gln24His) n.692G>C | |
5 | g.128537532C>T | CA446309019 | FBN2 | c.72G>A (p.Gln24=) n.692G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537533T>A | CA3396236 | FBN2 | c.71A>T (p.Gln24Leu) n.691A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537533T>C | CA16604804 | FBN2 | c.71A>G (p.Gln24Arg) n.691A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537533T>G | CA360763117 | FBN2 | c.71A>C (p.Gln24Pro) n.691A>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537533T= | CA1581363590 | FBN2 | c.71A= (p.Gln24=) n.691A= | |
5 | g.128537534G>A | CA360763125 | FBN2 | c.70C>T (p.Gln24Ter) n.690C>T | |
5 | g.128537534G>C | CA360763130 | FBN2 | c.70C>G (p.Gln24Glu) n.690C>G | |
5 | g.128537534G>T | CA360763141 | FBN2 | c.70C>A (p.Gln24Lys) n.690C>A | gnomAD v4 |
5 | g.128537535C>A | CA3396237 | FBN2 | c.69G>T (p.Ala23=) n.689G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537535C= | CA1581363591 | FBN2 | c.69G= (p.Ala23=) n.689G= | |
5 | g.128537535C>G | CA446309022 | FBN2 | c.69G>C (p.Ala23=) n.689G>C | |
5 | g.128537535C>T | CA446309021 | FBN2 | c.69G>A (p.Ala23=) n.689G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537536G>A | CA360763150 | FBN2 | c.68C>T (p.Ala23Val) n.688C>T | dbSNP gnomAD v4 |
5 | g.128537536G>C | CA323989 | FBN2 | c.68C>G (p.Ala23Gly) n.688C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537536G= | CA1581363592 | FBN2 | c.68C= (p.Ala23=) n.688C= | |
5 | g.128537536G>T | CA360763165 | FBN2 | c.68C>A (p.Ala23Glu) n.688C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537537C>A | CA360763172 | FBN2 | c.67G>T (p.Ala23Ser) n.687G>T | dbSNP gnomAD v4 |
5 | g.128537537C= | CA1581363593 | FBN2 | c.67G= (p.Ala23=) n.687G= | |
5 | g.128537537C>G | CA127059254 | FBN2 | c.67G>C (p.Ala23Pro) n.687G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537537C>T | CA127059259 | FBN2 | c.67G>A (p.Ala23Thr) n.687G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537538C>A | CA360763177 | FBN2 | c.66G>T (p.Trp22Cys) n.686G>T | dbSNP gnomAD v4 |
5 | g.128537538C= | CA1581363594 | FBN2 | c.66G= (p.Trp22=) n.686G= | |
5 | g.128537538C>G | CA3396238 | FBN2 | c.66G>C (p.Trp22Cys) n.686G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537538C>T | CA360763181 | FBN2 | c.66G>A (p.Trp22Ter) n.686G>A | |
5 | g.128537539C>A | CA360763182 | FBN2 | c.65G>T (p.Trp22Leu) n.685G>T | gnomAD v4 |
5 | g.128537539C= | CA1581363595 | FBN2 | c.65G= (p.Trp22=) n.685G= | |
5 | g.128537539C>G | CA127059263 | FBN2 | c.65G>C (p.Trp22Ser) n.685G>C | dbSNP |
5 | g.128537539C>T | CA360763184 | FBN2 | c.65G>A (p.Trp22Ter) n.685G>A | |
5 | g.128537540A= | CA1581363596 | FBN2 | c.64T= (p.Trp22=) n.684T= | |
5 | g.128537540A>C | CA360763186 | FBN2 | c.64T>G (p.Trp22Gly) n.684T>G | gnomAD v4 |
5 | g.128537540A>G | CA360763188 | FBN2 | c.64T>C (p.Trp22Arg) n.684T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537540A>T | CA360763190 | FBN2 | c.64T>A (p.Trp22Arg) n.684T>A | |
5 | g.128537541G>A | CA446309024 | FBN2 | c.63C>T (p.Leu21=) n.683C>T | |
5 | g.128537541G>C | CA446309026 | FBN2 | c.63C>G (p.Leu21=) n.683C>G | ClinVar dbSNP gnomAD v4 |
5 | g.128537541G>T | CA446309028 | FBN2 | c.63C>A (p.Leu21=) n.683C>A | |
5 | g.128537542A= | CA1581363597 | FBN2 | c.62T= (p.Leu21=) n.682T= | |
5 | g.128537542A>C | CA360763197 | FBN2 | c.62T>G (p.Leu21Arg) n.682T>G | dbSNP |
5 | g.128537542A>G | CA360763198 | FBN2 | c.62T>C (p.Leu21Pro) n.682T>C | dbSNP gnomAD v4 |
5 | g.128537542A>T | CA360763201 | FBN2 | c.62T>A (p.Leu21His) n.682T>A | |
5 | g.128537543G>A | CA3396239 | FBN2 | c.61C>T (p.Leu21Phe) n.681C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537543G>C | CA360763203 | FBN2 | c.61C>G (p.Leu21Val) n.681C>G | |
5 | g.128537543G= | CA1581363598 | FBN2 | c.61C= (p.Leu21=) n.681C= | |
5 | g.128537543G>T | CA360763207 | FBN2 | c.61C>A (p.Leu21Ile) n.681C>A | gnomAD v4 |
5 | g.128537544C>A | CA446309030 | FBN2 | c.60G>T (p.Val20=) n.680G>T | gnomAD v4 |
5 | g.128537544C>G | CA446309031 | FBN2 | c.60G>C (p.Val20=) n.680G>C | ClinVar |
5 | g.128537544C>T | CA446309032 | FBN2 | c.60G>A (p.Val20=) n.680G>A | gnomAD v4 |
5 | g.128537545A>C | CA360763217 | FBN2 | c.59T>G (p.Val20Gly) n.679T>G | |
5 | g.128537545A>G | CA360763219 | FBN2 | c.59T>C (p.Val20Ala) n.679T>C | |
5 | g.128537545A>T | CA360763221 | FBN2 | c.59T>A (p.Val20Glu) n.679T>A | |
5 | g.128537546C>A | CA360763223 | FBN2 | c.58G>T (p.Val20Leu) n.678G>T | ClinVar dbSNP |
5 | g.128537546C= | CA1581363599 | FBN2 | c.58G= (p.Val20=) n.678G= | |
5 | g.128537546C>G | CA360763226 | FBN2 | c.58G>C (p.Val20Leu) n.678G>C | |
5 | g.128537546C>T | CA3396240 | FBN2 | c.58G>A (p.Val20Met) n.678G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537547C>A | CA446309033 | FBN2 | c.57G>T (p.Val19=) n.677G>T | gnomAD v4 |
5 | g.128537547C= | CA1581363600 | FBN2 | c.57G= (p.Val19=) n.677G= | |
5 | g.128537547C>G | CA446309035 | FBN2 | c.57G>C (p.Val19=) n.677G>C | |
5 | g.128537547C>T | CA446309034 | FBN2 | c.57G>A (p.Val19=) n.677G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537548A>C | CA360763228 | FBN2 | c.56T>G (p.Val19Gly) n.676T>G | |
5 | g.128537548A>G | CA360763229 | FBN2 | c.56T>C (p.Val19Ala) n.676T>C | gnomAD v4 |
5 | g.128537548A>T | CA360763230 | FBN2 | c.56T>A (p.Val19Glu) n.676T>A | |
5 | g.128537549C>A | CA360763236 | FBN2 | c.55G>T (p.Val19Leu) n.675G>T | dbSNP |
5 | g.128537549C= | CA1581363601 | FBN2 | c.55G= (p.Val19=) n.675G= | |
5 | g.128537549C>G | CA360763241 | FBN2 | c.55G>C (p.Val19Leu) n.675G>C | |
5 | g.128537549C>T | CA360763244 | FBN2 | c.55G>A (p.Val19Met) n.675G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537550A>C | CA360763254 | FBN2 | c.54T>G (p.Cys18Trp) n.674T>G | |
5 | g.128537550A>G | CA446309036 | FBN2 | c.54T>C (p.Cys18=) n.674T>C | |
5 | g.128537550A>T | CA360763257 | FBN2 | c.54T>A (p.Cys18Ter) n.674T>A | |
5 | g.128537551C>A | CA360763258 | FBN2 | c.53G>T (p.Cys18Phe) n.673G>T | gnomAD v4 |
5 | g.128537551C>G | CA360763260 | FBN2 | c.53G>C (p.Cys18Ser) n.673G>C | |
5 | g.128537551C>T | CA360763259 | FBN2 | c.53G>A (p.Cys18Tyr) n.673G>A | gnomAD v4 |
5 | g.128537552A= | CA1581363602 | FBN2 | c.52T= (p.Cys18=) n.672T= | |
5 | g.128537552A>C | CA360763264 | FBN2 | c.52T>G (p.Cys18Gly) n.672T>G | |
5 | g.128537552A>G | CA360763265 | FBN2 | c.52T>C (p.Cys18Arg) n.672T>C | |
5 | g.128537552A>T | CA127059272 | FBN2 | c.52T>A (p.Cys18Ser) n.672T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537553G>A | CA446309037 | FBN2 | c.51C>T (p.Gly17=) n.671C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537553G>C | CA446309039 | FBN2 | c.51C>G (p.Gly17=) n.671C>G | gnomAD v4 |
5 | g.128537553G= | CA1581363603 | FBN2 | c.51C= (p.Gly17=) n.671C= | |
5 | g.128537553G>T | CA446309038 | FBN2 | c.51C>A (p.Gly17=) n.671C>A | |
5 | g.128537554C>A | CA360763267 | FBN2 | c.50G>T (p.Gly17Val) n.670G>T | dbSNP |
5 | g.128537554C= | CA1581363604 | FBN2 | c.50G= (p.Gly17=) n.670G= | |
5 | g.128537554C>G | CA360763270 | FBN2 | c.50G>C (p.Gly17Ala) n.670G>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537554C>T | CA360763272 | FBN2 | c.50G>A (p.Gly17Asp) n.670G>A | gnomAD v4 |
5 | g.128537555C>A | CA360763277 | FBN2 | c.49G>T (p.Gly17Cys) n.669G>T | dbSNP gnomAD v4 |
5 | g.128537555C= | CA1581363605 | FBN2 | c.49G= (p.Gly17=) n.669G= | |
5 | g.128537555C>G | CA360763281 | FBN2 | c.49G>C (p.Gly17Arg) n.669G>C | |
5 | g.128537555C>T | CA360763286 | FBN2 | c.49G>A (p.Gly17Ser) n.669G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537556C>A | CA446309040 | FBN2 | c.48G>T (p.Leu16=) n.668G>T | COSMIC COSMIC |
5 | g.128537556C>G | CA446309041 | FBN2 | c.48G>C (p.Leu16=) n.668G>C | |
5 | g.128537556C>T | CA446309042 | FBN2 | c.48G>A (p.Leu16=) n.668G>A | gnomAD v4 |
5 | g.128537557A>C | CA360763288 | FBN2 | c.47T>G (p.Leu16Arg) n.667T>G | |
5 | g.128537557A>G | CA360763292 | FBN2 | c.47T>C (p.Leu16Pro) n.667T>C | |
5 | g.128537557A>T | CA360763296 | FBN2 | c.47T>A (p.Leu16Gln) n.667T>A | |
5 | g.128537558G>A | CA446309044 | FBN2 | c.46C>T (p.Leu16=) n.666C>T | |
5 | g.128537558G>C | CA360763300 | FBN2 | c.46C>G (p.Leu16Val) n.666C>G | gnomAD v4 |
5 | g.128537558G>T | CA360763299 | FBN2 | c.46C>A (p.Leu16Met) n.666C>A | gnomAD v4 |
5 | g.128537559C>A | CA360763301 | FBN2 | c.45G>T (p.Trp15Cys) n.665G>T | gnomAD v4 |
5 | g.128537559C>G | CA360763303 | FBN2 | c.45G>C (p.Trp15Cys) n.665G>C | |
5 | g.128537559C>T | CA360763305 | FBN2 | c.45G>A (p.Trp15Ter) n.665G>A | gnomAD v4 |
5 | g.128537560C>A | CA360763311 | FBN2 | c.44G>T (p.Trp15Leu) n.664G>T | |
5 | g.128537560C>G | CA360763314 | FBN2 | c.44G>C (p.Trp15Ser) n.664G>C | |
5 | g.128537560C>T | CA360763315 | FBN2 | c.44G>A (p.Trp15Ter) n.664G>A | |
5 | g.128537561A>C | CA360763317 | FBN2 | c.43T>G (p.Trp15Gly) n.663T>G | |
5 | g.128537561A>G | CA360763319 | FBN2 | c.43T>C (p.Trp15Arg) n.663T>C | |
5 | g.128537561A>T | CA360763321 | FBN2 | c.43T>A (p.Trp15Arg) n.663T>A | |
5 | g.128537562C>A | CA3396241 | FBN2 | c.42G>T (p.Leu14=) n.662G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537562C= | CA1581363606 | FBN2 | c.42G= (p.Leu14=) n.662G= | |
5 | g.128537562C>G | CA446309046 | FBN2 | c.42G>C (p.Leu14=) n.662G>C | |
5 | g.128537562C>T | CA446309047 | FBN2 | c.42G>A (p.Leu14=) n.662G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537563A>C | CA360763326 | FBN2 | c.41T>G (p.Leu14Arg) n.661T>G | |
5 | g.128537563A>G | CA360763329 | FBN2 | c.41T>C (p.Leu14Pro) n.661T>C | gnomAD v4 COSMIC COSMIC |
5 | g.128537563A>T | CA360763333 | FBN2 | c.41T>A (p.Leu14Gln) n.661T>A | |
5 | g.128537564G>A | CA446309048 | FBN2 | c.40C>T (p.Leu14=) n.660C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537564G>C | CA360763337 | FBN2 | c.40C>G (p.Leu14Val) n.660C>G | |
5 | g.128537564G= | CA1581363607 | FBN2 | c.40C= (p.Leu14=) n.660C= | |
5 | g.128537564G>T | CA360763339 | FBN2 | c.40C>A (p.Leu14Met) n.660C>A | gnomAD v4 COSMIC COSMIC |
5 | g.128537565G>A | CA446309049 | FBN2 | c.39C>T (p.Phe13=) n.659C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128537565G>C | CA360763342 | FBN2 | c.39C>G (p.Phe13Leu) n.659C>G | |
5 | g.128537565G= | CA1581363608 | FBN2 | c.39C= (p.Phe13=) n.659C= | |
5 | g.128537565G>T | CA360763345 | FBN2 | c.39C>A (p.Phe13Leu) n.659C>A | |
5 | g.128537566A>C | CA360763358 | FBN2 | c.38T>G (p.Phe13Cys) n.658T>G | |
5 | g.128537566A>G | CA360763360 | FBN2 | c.38T>C (p.Phe13Ser) n.658T>C | |
5 | g.128537566A>T | CA360763366 | FBN2 | c.38T>A (p.Phe13Tyr) n.658T>A | |
5 | g.128537567A= | CA1581363609 | FBN2 | c.37T= (p.Phe13=) n.657T= | |
5 | g.128537567A>C | CA360763369 | FBN2 | c.37T>G (p.Phe13Val) n.657T>G | |
5 | g.128537567A>G | CA127059276 | FBN2 | c.37T>C (p.Phe13Leu) n.657T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537567A>T | CA360763370 | FBN2 | c.37T>A (p.Phe13Ile) n.657T>A | |
5 | g.128537568G>A | CA446309050 | FBN2 | c.36C>T (p.Tyr12=) n.656C>T | ClinVar dbSNP gnomAD v4 |
5 | g.128537568G>C | CA360763372 | FBN2 | c.36C>G (p.Tyr12Ter) n.656C>G | |
5 | g.128537568G= | CA1581363610 | FBN2 | c.36C= (p.Tyr12=) n.656C= | |
5 | g.128537568G>T | CA360763374 | FBN2 | c.36C>A (p.Tyr12Ter) n.656C>A | gnomAD v4 |
5 | g.128537569T>A | CA3396242 | FBN2 | c.35A>T (p.Tyr12Phe) n.655A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537569T>C | CA360763387 | FBN2 | c.35A>G (p.Tyr12Cys) n.655A>G | gnomAD v4 |
5 | g.128537569T>G | CA360763389 | FBN2 | c.35A>C (p.Tyr12Ser) n.655A>C | gnomAD v4 |
5 | g.128537569T= | CA1581363611 | FBN2 | c.35A= (p.Tyr12=) n.655A= | |
5 | g.128537570A>C | CA360763406 | FBN2 | c.34T>G (p.Tyr12Asp) n.654T>G | |
5 | g.128537570A>G | CA360763397 | FBN2 | c.34T>C (p.Tyr12His) n.654T>C | gnomAD v4 |
5 | g.128537570A>T | CA360763402 | FBN2 | c.34T>A (p.Tyr12Asn) n.654T>A | |
5 | g.128537571G>A | CA446309051 | FBN2 | c.33C>T (p.Leu11=) n.653C>T | ClinVar gnomAD v4 |
5 | g.128537571G>C | CA446309052 | FBN2 | c.33C>G (p.Leu11=) n.653C>G | ClinVar dbSNP |
5 | g.128537571G= | CA1581363612 | FBN2 | c.33C= (p.Leu11=) n.653C= | |
5 | g.128537571G>T | CA446309053 | FBN2 | c.33C>A (p.Leu11=) n.653C>A | gnomAD v4 |
5 | g.128537572A>C | CA360763409 | FBN2 | c.32T>G (p.Leu11Arg) n.652T>G | |
5 | g.128537572A>G | CA360763411 | FBN2 | c.32T>C (p.Leu11Pro) n.652T>C | |
5 | g.128537572A>T | CA360763412 | FBN2 | c.32T>A (p.Leu11His) n.652T>A | |
5 | g.128537573G>A | CA360763417 | FBN2 | c.31C>T (p.Leu11Phe) n.651C>T | gnomAD v4 |
5 | g.128537573G>C | CA360763418 | FBN2 | c.31C>G (p.Leu11Val) n.651C>G | |
5 | g.128537573G>T | CA360763428 | FBN2 | c.31C>A (p.Leu11Ile) n.651C>A | gnomAD v4 |
5 | g.128537574C>A | CA360763431 | FBN2 | c.30G>T (p.Gln10His) n.650G>T | |
5 | g.128537574C>G | CA360763432 | FBN2 | c.30G>C (p.Gln10His) n.650G>C | ClinVar |
5 | g.128537574C>T | CA446309054 | FBN2 | c.30G>A (p.Gln10=) n.650G>A | gnomAD v4 |
5 | g.128537575T>A | CA360763433 | FBN2 | c.29A>T (p.Gln10Leu) n.649A>T | |
5 | g.128537575T>C | CA3396243 | FBN2 | c.29A>G (p.Gln10Arg) n.649A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537575T>G | CA360763437 | FBN2 | c.29A>C (p.Gln10Pro) n.649A>C | |
5 | g.128537575T= | CA1581363613 | FBN2 | c.29A= (p.Gln10=) n.649A= | |
5 | g.128537576G>A | CA360763443 | FBN2 | c.28C>T (p.Gln10Ter) n.648C>T | |
5 | g.128537576G>C | CA360763456 | FBN2 | c.28C>G (p.Gln10Glu) n.648C>G | |
5 | g.128537576G>T | CA360763447 | FBN2 | c.28C>A (p.Gln10Lys) n.648C>A | gnomAD v4 |
5 | g.128537577G>A | CA127059282 | FBN2 | c.27C>T (p.Leu9=) n.647C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537577G>C | CA3396244 | FBN2 | c.27C>G (p.Leu9=) n.647C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537577G= | CA1581363614 | FBN2 | c.27C= (p.Leu9=) n.647C= | |
5 | g.128537577G>T | CA446309058 | FBN2 | c.27C>A (p.Leu9=) n.647C>A | gnomAD v4 |
5 | g.128537578A>C | CA360763461 | FBN2 | c.26T>G (p.Leu9Arg) n.646T>G | |
5 | g.128537578A>G | CA360763460 | FBN2 | c.26T>C (p.Leu9Pro) n.646T>C | |
5 | g.128537578A>T | CA360763464 | FBN2 | c.26T>A (p.Leu9His) n.646T>A | |
5 | g.128537579G>A | CA360763468 | FBN2 | c.25C>T (p.Leu9Phe) n.645C>T | |
5 | g.128537579G>C | CA360763478 | FBN2 | c.25C>G (p.Leu9Val) n.645C>G | |
5 | g.128537579G>T | CA360763474 | FBN2 | c.25C>A (p.Leu9Ile) n.645C>A | gnomAD v4 |
5 | g.128537580A= | CA1581363615 | FBN2 | c.24T= (p.Cys8=) n.644T= | |
5 | g.128537580A>C | CA360763483 | FBN2 | c.24T>G (p.Cys8Trp) n.644T>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537580A>G | CA446309059 | FBN2 | c.24T>C (p.Cys8=) n.644T>C | |
5 | g.128537580A>T | CA360763486 | FBN2 | c.24T>A (p.Cys8Ter) n.644T>A | |
5 | g.128537581C>A | CA127059293 | FBN2 | c.23G>T (p.Cys8Phe) n.643G>T | dbSNP gnomAD v4 |
5 | g.128537581C= | CA1581363616 | FBN2 | c.23G= (p.Cys8=) n.643G= | |
5 | g.128537581C>G | CA360763509 | FBN2 | c.23G>C (p.Cys8Ser) n.643G>C | |
5 | g.128537581C>T | CA360763515 | FBN2 | c.23G>A (p.Cys8Tyr) n.643G>A | gnomAD v4 |
5 | g.128537582A= | CA1581363617 | FBN2 | c.22T= (p.Cys8=) n.642T= | |
5 | g.128537582A>C | CA360763522 | FBN2 | c.22T>G (p.Cys8Gly) n.642T>G | |
5 | g.128537582A>G | CA360763533 | FBN2 | c.22T>C (p.Cys8Arg) n.642T>C | gnomAD v4 |
5 | g.128537582A>T | CA360763536 | FBN2 | c.22T>A (p.Cys8Ser) n.642T>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537583C>A | CA446309062 | FBN2 | c.21G>T (p.Leu7=) n.641G>T | |
5 | g.128537583C= | CA1581363618 | FBN2 | c.21G= (p.Leu7=) n.641G= | |
5 | g.128537583C>G | CA446309061 | FBN2 | c.21G>C (p.Leu7=) n.641G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537583C>T | CA127059301 | FBN2 | c.21G>A (p.Leu7=) n.641G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |