Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128298909_128303722del | CA2843744814 | FBN2 | n.2585-633_2950+1908del n.2504-633_2869+1908del c.5801-633_6166+1908del c.5798-633_6163+1908del c.5648-633_6013+1908del | |
5 | g.128300880A>C | CA360766438 | FBN2 | n.2887T>G n.2806T>G c.6103T>G (p.Leu2035Val) c.6100T>G (p.Leu2034Val) c.5950T>G (p.Leu1984Val) | |
5 | g.128300880A>G | CA446309253 | FBN2 | n.2887T>C n.2806T>C c.6103T>C (p.Leu2035=) c.6100T>C (p.Leu2034=) c.5950T>C (p.Leu1984=) | |
5 | g.128300880A>T | CA360766437 | FBN2 | n.2887T>A n.2806T>A c.6103T>A (p.Leu2035Met) c.6100T>A (p.Leu2034Met) c.5950T>A (p.Leu1984Met) | |
5 | g.128300881A>C | CA360766440 | FBN2 | n.2886T>G n.2805T>G c.6102T>G (p.Asn2034Lys) c.6099T>G (p.Asn2033Lys) c.5949T>G (p.Asn1983Lys) | |
5 | g.128300881A>G | CA446309255 | FBN2 | n.2886T>C n.2805T>C c.6102T>C (p.Asn2034=) c.6099T>C (p.Asn2033=) c.5949T>C (p.Asn1983=) | |
5 | g.128300881A>T | CA360766442 | FBN2 | n.2886T>A n.2805T>A c.6102T>A (p.Asn2034Lys) c.6099T>A (p.Asn2033Lys) c.5949T>A (p.Asn1983Lys) | |
5 | g.128300882T>A | CA360766444 | FBN2 | n.2885A>T n.2804A>T c.6101A>T (p.Asn2034Ile) c.6098A>T (p.Asn2033Ile) c.5948A>T (p.Asn1983Ile) | |
5 | g.128300882T>C | CA360766446 | FBN2 | n.2885A>G n.2804A>G c.6101A>G (p.Asn2034Ser) c.6098A>G (p.Asn2033Ser) c.5948A>G (p.Asn1983Ser) | |
5 | g.128300882T>G | CA360766447 | FBN2 | n.2885A>C n.2804A>C c.6101A>C (p.Asn2034Thr) c.6098A>C (p.Asn2033Thr) c.5948A>C (p.Asn1983Thr) | |
5 | g.128300883T>A | CA360766449 | FBN2 | n.2884A>T n.2803A>T c.6100A>T (p.Asn2034Tyr) c.6097A>T (p.Asn2033Tyr) c.5947A>T (p.Asn1983Tyr) | |
5 | g.128300883T>C | CA360766451 | FBN2 | n.2884A>G n.2803A>G c.6100A>G (p.Asn2034Asp) c.6097A>G (p.Asn2033Asp) c.5947A>G (p.Asn1983Asp) | |
5 | g.128300883T>G | CA360766453 | FBN2 | n.2884A>C n.2803A>C c.6100A>C (p.Asn2034His) c.6097A>C (p.Asn2033His) c.5947A>C (p.Asn1983His) | |
5 | g.128300884C>A | CA360766455 | FBN2 | n.2883G>T n.2802G>T c.6099G>T (p.Gln2033His) c.6096G>T (p.Gln2032His) c.5946G>T (p.Gln1982His) | |
5 | g.128300884C>G | CA360766457 | FBN2 | n.2883G>C n.2802G>C c.6099G>C (p.Gln2033His) c.6096G>C (p.Gln2032His) c.5946G>C (p.Gln1982His) | |
5 | g.128300884C>T | CA446309256 | FBN2 | n.2883G>A n.2802G>A c.6099G>A (p.Gln2033=) c.6096G>A (p.Gln2032=) c.5946G>A (p.Gln1982=) | |
5 | g.128300885T>A | CA360766460 | FBN2 | n.2882A>T n.2801A>T c.6098A>T (p.Gln2033Leu) c.6095A>T (p.Gln2032Leu) c.5945A>T (p.Gln1982Leu) | |
5 | g.128300885T>C | CA360766461 | FBN2 | n.2882A>G n.2801A>G c.6098A>G (p.Gln2033Arg) c.6095A>G (p.Gln2032Arg) c.5945A>G (p.Gln1982Arg) | |
5 | g.128300885T>G | CA360766463 | FBN2 | n.2882A>C n.2801A>C c.6098A>C (p.Gln2033Pro) c.6095A>C (p.Gln2032Pro) c.5945A>C (p.Gln1982Pro) | |
5 | g.128300886G>A | CA360766468 | FBN2 | n.2881C>T n.2800C>T c.6097C>T (p.Gln2033Ter) c.6094C>T (p.Gln2032Ter) c.5944C>T (p.Gln1982Ter) | |
5 | g.128300886G>C | CA360766466 | FBN2 | n.2881C>G n.2800C>G c.6097C>G (p.Gln2033Glu) c.6094C>G (p.Gln2032Glu) c.5944C>G (p.Gln1982Glu) | |
5 | g.128300886G>T | CA360766465 | FBN2 | n.2881C>A n.2800C>A c.6097C>A (p.Gln2033Lys) c.6094C>A (p.Gln2032Lys) c.5944C>A (p.Gln1982Lys) | |
5 | g.128300887A= | CA1581253477 | FBN2 | n.2880T= n.2799T= c.6096T= (p.Cys2032=) c.6093T= (p.Cys2031=) c.5943T= (p.Cys1981=) | |
5 | g.128300887A>C | CA360766470 | FBN2 | n.2880T>G n.2799T>G c.6096T>G (p.Cys2032Trp) c.6093T>G (p.Cys2031Trp) c.5943T>G (p.Cys1981Trp) | |
5 | g.128300887A>G | CA3394501 | FBN2 | n.2880T>C n.2799T>C c.6096T>C (p.Cys2032=) c.6093T>C (p.Cys2031=) c.5943T>C (p.Cys1981=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128300887A>T | CA360766474 | FBN2 | n.2880T>A n.2799T>A c.6096T>A (p.Cys2032Ter) c.6093T>A (p.Cys2031Ter) c.5943T>A (p.Cys1981Ter) | |
5 | g.128300888C>A | CA360766476 | FBN2 | n.2879G>T n.2798G>T c.6095G>T (p.Cys2032Phe) c.6092G>T (p.Cys2031Phe) c.5942G>T (p.Cys1981Phe) | |
5 | g.128300888C>G | CA360766478 | FBN2 | n.2879G>C n.2798G>C c.6095G>C (p.Cys2032Ser) c.6092G>C (p.Cys2031Ser) c.5942G>C (p.Cys1981Ser) | |
5 | g.128300888C>T | CA360766480 | FBN2 | n.2879G>A n.2798G>A c.6095G>A (p.Cys2032Tyr) c.6092G>A (p.Cys2031Tyr) c.5942G>A (p.Cys1981Tyr) | gnomAD v4 |
5 | g.128300889A>C | CA360766486 | FBN2 | n.2878T>G n.2797T>G c.6094T>G (p.Cys2032Gly) c.6091T>G (p.Cys2031Gly) c.5941T>G (p.Cys1981Gly) | gnomAD v4 |
5 | g.128300889A>G | CA360766484 | FBN2 | n.2878T>C n.2797T>C c.6094T>C (p.Cys2032Arg) c.6091T>C (p.Cys2031Arg) c.5941T>C (p.Cys1981Arg) | |
5 | g.128300889A>T | CA360766482 | FBN2 | n.2878T>A n.2797T>A c.6094T>A (p.Cys2032Ser) c.6091T>A (p.Cys2031Ser) c.5941T>A (p.Cys1981Ser) | |
5 | g.128300890G>A | CA446309259 | FBN2 | n.2877C>T n.2796C>T c.6093C>T (p.Thr2031=) c.6090C>T (p.Thr2030=) c.5940C>T (p.Thr1980=) | |
5 | g.128300890G>C | CA446309260 | FBN2 | n.2877C>G n.2796C>G c.6093C>G (p.Thr2031=) c.6090C>G (p.Thr2030=) c.5940C>G (p.Thr1980=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128300890G= | CA1581253478 | FBN2 | n.2877C= n.2796C= c.6093C= (p.Thr2031=) c.6090C= (p.Thr2030=) c.5940C= (p.Thr1980=) | |
5 | g.128300890G>T | CA446309261 | FBN2 | n.2877C>A n.2796C>A c.6093C>A (p.Thr2031=) c.6090C>A (p.Thr2030=) c.5940C>A (p.Thr1980=) | |
5 | g.128300891G>A | CA360766488 | FBN2 | n.2876C>T n.2795C>T c.6092C>T (p.Thr2031Ile) c.6089C>T (p.Thr2030Ile) c.5939C>T (p.Thr1980Ile) | gnomAD v4 |
5 | g.128300891G>C | CA360766490 | FBN2 | n.2876C>G n.2795C>G c.6092C>G (p.Thr2031Ser) c.6089C>G (p.Thr2030Ser) c.5939C>G (p.Thr1980Ser) | |
5 | g.128300891G>T | CA360766491 | FBN2 | n.2876C>A n.2795C>A c.6092C>A (p.Thr2031Asn) c.6089C>A (p.Thr2030Asn) c.5939C>A (p.Thr1980Asn) | |
5 | g.128300892T>A | CA360766494 | FBN2 | n.2875A>T n.2794A>T c.6091A>T (p.Thr2031Ser) c.6088A>T (p.Thr2030Ser) c.5938A>T (p.Thr1980Ser) | |
5 | g.128300892T>C | CA360766496 | FBN2 | n.2875A>G n.2794A>G c.6091A>G (p.Thr2031Ala) c.6088A>G (p.Thr2030Ala) c.5938A>G (p.Thr1980Ala) | gnomAD v4 |
5 | g.128300892T>G | CA360766498 | FBN2 | n.2875A>C n.2794A>C c.6091A>C (p.Thr2031Pro) c.6088A>C (p.Thr2030Pro) c.5938A>C (p.Thr1980Pro) | |
5 | g.128300893A>C | CA446309262 | FBN2 | n.2874T>G n.2793T>G c.6090T>G (p.Gly2030=) c.6087T>G (p.Gly2029=) c.5937T>G (p.Gly1979=) | |
5 | g.128300893A>G | CA446309264 | FBN2 | n.2874T>C n.2793T>C c.6090T>C (p.Gly2030=) c.6087T>C (p.Gly2029=) c.5937T>C (p.Gly1979=) | |
5 | g.128300893A>T | CA446309266 | FBN2 | n.2874T>A n.2793T>A c.6090T>A (p.Gly2030=) c.6087T>A (p.Gly2029=) c.5937T>A (p.Gly1979=) | |
5 | g.128300894C>A | CA360766500 | FBN2 | n.2873G>T n.2792G>T c.6089G>T (p.Gly2030Val) c.6086G>T (p.Gly2029Val) c.5936G>T (p.Gly1979Val) | ClinVar |
5 | g.128300894C>G | CA360766503 | FBN2 | n.2873G>C n.2792G>C c.6089G>C (p.Gly2030Ala) c.6086G>C (p.Gly2029Ala) c.5936G>C (p.Gly1979Ala) | |
5 | g.128300894C>T | CA360766501 | FBN2 | n.2873G>A n.2792G>A c.6089G>A (p.Gly2030Asp) c.6086G>A (p.Gly2029Asp) c.5936G>A (p.Gly1979Asp) | |
5 | g.128300895C>A | CA360766504 | FBN2 | n.2872G>T n.2791G>T c.6088G>T (p.Gly2030Cys) c.6085G>T (p.Gly2029Cys) c.5935G>T (p.Gly1979Cys) | |
5 | g.128300895C>G | CA360766506 | FBN2 | n.2872G>C n.2791G>C c.6088G>C (p.Gly2030Arg) c.6085G>C (p.Gly2029Arg) c.5935G>C (p.Gly1979Arg) | |
5 | g.128300895C>T | CA360766507 | FBN2 | n.2872G>A n.2791G>A c.6088G>A (p.Gly2030Ser) c.6085G>A (p.Gly2029Ser) c.5935G>A (p.Gly1979Ser) | |
5 | g.128300896A= | CA1581253479 | FBN2 | n.2871T= n.2790T= c.6087T= (p.Pro2029=) c.6084T= (p.Pro2028=) c.5934T= (p.Pro1978=) | |
5 | g.128300896A>C | CA446309267 | FBN2 | n.2871T>G n.2790T>G c.6087T>G (p.Pro2029=) c.6084T>G (p.Pro2028=) c.5934T>G (p.Pro1978=) | ClinVar |
5 | g.128300896A>G | CA127043257 | FBN2 | n.2871T>C n.2790T>C c.6087T>C (p.Pro2029=) c.6084T>C (p.Pro2028=) c.5934T>C (p.Pro1978=) | dbSNP |
5 | g.128300896A>T | CA446309269 | FBN2 | n.2871T>A n.2790T>A c.6087T>A (p.Pro2029=) c.6084T>A (p.Pro2028=) c.5934T>A (p.Pro1978=) | |
5 | g.128300897G>A | CA360766510 | FBN2 | n.2870C>T n.2789C>T c.6086C>T (p.Pro2029Leu) c.6083C>T (p.Pro2028Leu) c.5933C>T (p.Pro1978Leu) | COSMIC COSMIC |
5 | g.128300897G>C | CA360766512 | FBN2 | n.2870C>G n.2789C>G c.6086C>G (p.Pro2029Arg) c.6083C>G (p.Pro2028Arg) c.5933C>G (p.Pro1978Arg) | |
5 | g.128300897G>T | CA360766514 | FBN2 | n.2870C>A n.2789C>A c.6086C>A (p.Pro2029His) c.6083C>A (p.Pro2028His) c.5933C>A (p.Pro1978His) | |
5 | g.128300898G>A | CA360766516 | FBN2 | n.2869C>T n.2788C>T c.6085C>T (p.Pro2029Ser) c.6082C>T (p.Pro2028Ser) c.5932C>T (p.Pro1978Ser) | |
5 | g.128300898G>C | CA360766518 | FBN2 | n.2869C>G n.2788C>G c.6085C>G (p.Pro2029Ala) c.6082C>G (p.Pro2028Ala) c.5932C>G (p.Pro1978Ala) | gnomAD v4 |
5 | g.128300898G>T | CA360766519 | FBN2 | n.2869C>A n.2788C>A c.6085C>A (p.Pro2029Thr) c.6082C>A (p.Pro2028Thr) c.5932C>A (p.Pro1978Thr) | |
5 | g.128300899A>C | CA446309274 | FBN2 | n.2868T>G n.2787T>G c.6084T>G (p.Ser2028=) c.6081T>G (p.Ser2027=) c.5931T>G (p.Ser1977=) | |
5 | g.128300899A>G | CA446309272 | FBN2 | n.2868T>C n.2787T>C c.6084T>C (p.Ser2028=) c.6081T>C (p.Ser2027=) c.5931T>C (p.Ser1977=) | |
5 | g.128300899A>T | CA446309273 | FBN2 | n.2868T>A n.2787T>A c.6084T>A (p.Ser2028=) c.6081T>A (p.Ser2027=) c.5931T>A (p.Ser1977=) | |
5 | g.128300900G>A | CA360766520 | FBN2 | n.2867C>T n.2786C>T c.6083C>T (p.Ser2028Phe) c.6080C>T (p.Ser2027Phe) c.5930C>T (p.Ser1977Phe) | dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.128300900G>C | CA360766522 | FBN2 | n.2867C>G n.2786C>G c.6083C>G (p.Ser2028Cys) c.6080C>G (p.Ser2027Cys) c.5930C>G (p.Ser1977Cys) | |
5 | g.128300900G= | CA1581253480 | FBN2 | n.2867C= n.2786C= c.6083C= (p.Ser2028=) c.6080C= (p.Ser2027=) c.5930C= (p.Ser1977=) | |
5 | g.128300900G>T | CA360766524 | FBN2 | n.2867C>A n.2786C>A c.6083C>A (p.Ser2028Tyr) c.6080C>A (p.Ser2027Tyr) c.5930C>A (p.Ser1977Tyr) | |
5 | g.128300901A>C | CA360766526 | FBN2 | n.2866T>G n.2785T>G c.6082T>G (p.Ser2028Ala) c.6079T>G (p.Ser2027Ala) c.5929T>G (p.Ser1977Ala) | |
5 | g.128300901A>G | CA360766530 | FBN2 | n.2866T>C n.2785T>C c.6082T>C (p.Ser2028Pro) c.6079T>C (p.Ser2027Pro) c.5929T>C (p.Ser1977Pro) | gnomAD v4 |
5 | g.128300901A>T | CA360766528 | FBN2 | n.2866T>A n.2785T>A c.6082T>A (p.Ser2028Thr) c.6079T>A (p.Ser2027Thr) c.5929T>A (p.Ser1977Thr) | |
5 | g.128300902G>A | CA446309275 | FBN2 | n.2865C>T n.2784C>T c.6081C>T (p.Cys2027=) c.6078C>T (p.Cys2026=) c.5928C>T (p.Cys1976=) | |
5 | g.128300902G>C | CA360766532 | FBN2 | n.2865C>G n.2784C>G c.6081C>G (p.Cys2027Trp) c.6078C>G (p.Cys2026Trp) c.5928C>G (p.Cys1976Trp) | |
5 | g.128300902G>T | CA360766534 | FBN2 | n.2865C>A n.2784C>A c.6081C>A (p.Cys2027Ter) c.6078C>A (p.Cys2026Ter) c.5928C>A (p.Cys1976Ter) | |
5 | g.128300903C>A | CA360766536 | FBN2 | n.2864G>T n.2783G>T c.6080G>T (p.Cys2027Phe) c.6077G>T (p.Cys2026Phe) c.5927G>T (p.Cys1976Phe) | |
5 | g.128300903C>G | CA360766537 | FBN2 | n.2864G>C n.2783G>C c.6080G>C (p.Cys2027Ser) c.6077G>C (p.Cys2026Ser) c.5927G>C (p.Cys1976Ser) | |
5 | g.128300903C>T | CA360766539 | FBN2 | n.2864G>A n.2783G>A c.6080G>A (p.Cys2027Tyr) c.6077G>A (p.Cys2026Tyr) c.5927G>A (p.Cys1976Tyr) | |
5 | g.128300904A>C | CA360766541 | FBN2 | n.2863T>G n.2782T>G c.6079T>G (p.Cys2027Gly) c.6076T>G (p.Cys2026Gly) c.5926T>G (p.Cys1976Gly) | |
5 | g.128300904A>G | CA360766542 | FBN2 | n.2863T>C n.2782T>C c.6079T>C (p.Cys2027Arg) c.6076T>C (p.Cys2026Arg) c.5926T>C (p.Cys1976Arg) | |
5 | g.128300904A>T | CA360766545 | FBN2 | n.2863T>A n.2782T>A c.6079T>A (p.Cys2027Ser) c.6076T>A (p.Cys2026Ser) c.5926T>A (p.Cys1976Ser) | |
5 | g.128300905A>C | CA446309280 | FBN2 | n.2862T>G n.2781T>G c.6078T>G (p.Ser2026=) c.6075T>G (p.Ser2025=) c.5925T>G (p.Ser1975=) | |
5 | g.128300905A>G | CA446309279 | FBN2 | n.2862T>C n.2781T>C c.6078T>C (p.Ser2026=) c.6075T>C (p.Ser2025=) c.5925T>C (p.Ser1975=) | gnomAD v4 |
5 | g.128300905A>T | CA446309281 | FBN2 | n.2862T>A n.2781T>A c.6078T>A (p.Ser2026=) c.6075T>A (p.Ser2025=) c.5925T>A (p.Ser1975=) | |
5 | g.128300906G>A | CA3394502 | FBN2 | n.2861C>T n.2780C>T c.6077C>T (p.Ser2026Phe) c.6074C>T (p.Ser2025Phe) c.5924C>T (p.Ser1975Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300906G>C | CA360766549 | FBN2 | n.2861C>G n.2780C>G c.6077C>G (p.Ser2026Cys) c.6074C>G (p.Ser2025Cys) c.5924C>G (p.Ser1975Cys) | |
5 | g.128300906G= | CA1581253481 | FBN2 | n.2861C= n.2780C= c.6077C= (p.Ser2026=) c.6074C= (p.Ser2025=) c.5924C= (p.Ser1975=) | |
5 | g.128300906G>T | CA360766551 | FBN2 | n.2861C>A n.2780C>A c.6077C>A (p.Ser2026Tyr) c.6074C>A (p.Ser2025Tyr) c.5924C>A (p.Ser1975Tyr) | |
5 | g.128300907A>C | CA360766557 | FBN2 | n.2860T>G n.2779T>G c.6076T>G (p.Ser2026Ala) c.6073T>G (p.Ser2025Ala) c.5923T>G (p.Ser1975Ala) | |
5 | g.128300907A>G | CA360766555 | FBN2 | n.2860T>C n.2779T>C c.6076T>C (p.Ser2026Pro) c.6073T>C (p.Ser2025Pro) c.5923T>C (p.Ser1975Pro) | |
5 | g.128300907A>T | CA360766553 | FBN2 | n.2860T>A n.2779T>A c.6076T>A (p.Ser2026Thr) c.6073T>A (p.Ser2025Thr) c.5923T>A (p.Ser1975Thr) | |
5 | g.128300908G>A | CA446309283 | FBN2 | n.2859C>T n.2778C>T c.6075C>T (p.Gly2025=) c.6072C>T (p.Gly2024=) c.5922C>T (p.Gly1974=) | ClinVar gnomAD v4 |
5 | g.128300908G>C | CA446309284 | FBN2 | n.2859C>G n.2778C>G c.6075C>G (p.Gly2025=) c.6072C>G (p.Gly2024=) c.5922C>G (p.Gly1974=) | |
5 | g.128300908G>T | CA446309285 | FBN2 | n.2859C>A n.2778C>A c.6075C>A (p.Gly2025=) c.6072C>A (p.Gly2024=) c.5922C>A (p.Gly1974=) | gnomAD v4 COSMIC COSMIC |
5 | g.128300909C>A | CA360766559 | FBN2 | n.2858G>T n.2777G>T c.6074G>T (p.Gly2025Val) c.6071G>T (p.Gly2024Val) c.5921G>T (p.Gly1974Val) | |
5 | g.128300909C= | CA1581253482 | FBN2 | n.2858G= n.2777G= c.6074G= (p.Gly2025=) c.6071G= (p.Gly2024=) c.5921G= (p.Gly1974=) | |
5 | g.128300909C>G | CA360766560 | FBN2 | n.2858G>C n.2777G>C c.6074G>C (p.Gly2025Ala) c.6071G>C (p.Gly2024Ala) c.5921G>C (p.Gly1974Ala) | |
5 | g.128300909C>T | CA3394503 | FBN2 | n.2858G>A n.2777G>A c.6074G>A (p.Gly2025Asp) c.6071G>A (p.Gly2024Asp) c.5921G>A (p.Gly1974Asp) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.128300910C>A | CA360766563 | FBN2 | n.2857G>T n.2776G>T c.6073G>T (p.Gly2025Cys) c.6070G>T (p.Gly2024Cys) c.5920G>T (p.Gly1974Cys) | |
5 | g.128300910C= | CA1581253483 | FBN2 | n.2857G= n.2776G= c.6073G= (p.Gly2025=) c.6070G= (p.Gly2024=) c.5920G= (p.Gly1974=) | |
5 | g.128300910C>G | CA360766564 | FBN2 | n.2857G>C n.2776G>C c.6073G>C (p.Gly2025Arg) c.6070G>C (p.Gly2024Arg) c.5920G>C (p.Gly1974Arg) | |
5 | g.128300910C>T | CA320255 | FBN2 | n.2857G>A n.2776G>A c.6073G>A (p.Gly2025Ser) c.6070G>A (p.Gly2024Ser) c.5920G>A (p.Gly1974Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300911G>A | CA3394504 | FBN2 | n.2856C>T n.2775C>T c.6072C>T (p.Pro2024=) c.6069C>T (p.Pro2023=) c.5919C>T (p.Pro1973=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300911G>C | CA446309287 | FBN2 | n.2856C>G n.2775C>G c.6072C>G (p.Pro2024=) c.6069C>G (p.Pro2023=) c.5919C>G (p.Pro1973=) | |
5 | g.128300911G= | CA1581253484 | FBN2 | n.2856C= n.2775C= c.6072C= (p.Pro2024=) c.6069C= (p.Pro2023=) c.5919C= (p.Pro1973=) | |
5 | g.128300911G>T | CA446309288 | FBN2 | n.2856C>A n.2775C>A c.6072C>A (p.Pro2024=) c.6069C>A (p.Pro2023=) c.5919C>A (p.Pro1973=) | |
5 | g.128300912G>A | CA360766568 | FBN2 | n.2855C>T n.2774C>T c.6071C>T (p.Pro2024Leu) c.6068C>T (p.Pro2023Leu) c.5918C>T (p.Pro1973Leu) | COSMIC COSMIC |
5 | g.128300912G>C | CA360766569 | FBN2 | n.2855C>G n.2774C>G c.6071C>G (p.Pro2024Arg) c.6068C>G (p.Pro2023Arg) c.5918C>G (p.Pro1973Arg) | |
5 | g.128300912G= | CA1581253485 | FBN2 | n.2855C= n.2774C= c.6071C= (p.Pro2024=) c.6068C= (p.Pro2023=) c.5918C= (p.Pro1973=) | |
5 | g.128300912G>T | CA3394505 | FBN2 | n.2855C>A n.2774C>A c.6071C>A (p.Pro2024His) c.6068C>A (p.Pro2023His) c.5918C>A (p.Pro1973His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128300913G>A | CA360766572 | FBN2 | n.2854C>T n.2773C>T c.6070C>T (p.Pro2024Ser) c.6067C>T (p.Pro2023Ser) c.5917C>T (p.Pro1973Ser) | |
5 | g.128300913G>C | CA360766573 | FBN2 | n.2854C>G n.2773C>G c.6070C>G (p.Pro2024Ala) c.6067C>G (p.Pro2023Ala) c.5917C>G (p.Pro1973Ala) | |
5 | g.128300913G>T | CA360766574 | FBN2 | n.2854C>A n.2773C>A c.6070C>A (p.Pro2024Thr) c.6067C>A (p.Pro2023Thr) c.5917C>A (p.Pro1973Thr) | |
5 | g.128300914A>C | CA446309289 | FBN2 | n.2853T>G n.2772T>G c.6069T>G (p.Leu2023=) c.6066T>G (p.Leu2022=) c.5916T>G (p.Leu1972=) | |
5 | g.128300914A>G | CA446309290 | FBN2 | n.2853T>C n.2772T>C c.6069T>C (p.Leu2023=) c.6066T>C (p.Leu2022=) c.5916T>C (p.Leu1972=) | |
5 | g.128300914A>T | CA446309291 | FBN2 | n.2853T>A n.2772T>A c.6069T>A (p.Leu2023=) c.6066T>A (p.Leu2022=) c.5916T>A (p.Leu1972=) | |
5 | g.128300915A>C | CA360766578 | FBN2 | n.2852T>G n.2771T>G c.6068T>G (p.Leu2023Arg) c.6065T>G (p.Leu2022Arg) c.5915T>G (p.Leu1972Arg) | |
5 | g.128300915A>G | CA360766581 | FBN2 | n.2852T>C n.2771T>C c.6068T>C (p.Leu2023Pro) c.6065T>C (p.Leu2022Pro) c.5915T>C (p.Leu1972Pro) | |
5 | g.128300915A>T | CA360766576 | FBN2 | n.2852T>A n.2771T>A c.6068T>A (p.Leu2023His) c.6065T>A (p.Leu2022His) c.5915T>A (p.Leu1972His) | |
5 | g.128300916G>A | CA360766583 | FBN2 | n.2851C>T n.2770C>T c.6067C>T (p.Leu2023Phe) c.6064C>T (p.Leu2022Phe) c.5914C>T (p.Leu1972Phe) | gnomAD v4 |
5 | g.128300916G>C | CA360766582 | FBN2 | n.2851C>G n.2770C>G c.6067C>G (p.Leu2023Val) c.6064C>G (p.Leu2022Val) c.5914C>G (p.Leu1972Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128300916G= | CA1581253486 | FBN2 | n.2851C= n.2770C= c.6067C= (p.Leu2023=) c.6064C= (p.Leu2022=) c.5914C= (p.Leu1972=) | |
5 | g.128300916G>T | CA3394506 | FBN2 | n.2851C>A n.2770C>A c.6067C>A (p.Leu2023Ile) c.6064C>A (p.Leu2022Ile) c.5914C>A (p.Leu1972Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300917G>A | CA446309296 | FBN2 | n.2850C>T n.2769C>T c.6066C>T (p.Ala2022=) c.6063C>T (p.Ala2021=) c.5913C>T (p.Ala1971=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128300917G>C | CA446309297 | FBN2 | n.2850C>G n.2769C>G c.6066C>G (p.Ala2022=) c.6063C>G (p.Ala2021=) c.5913C>G (p.Ala1971=) | |
5 | g.128300917G= | CA1581253487 | FBN2 | n.2850C= n.2769C= c.6066C= (p.Ala2022=) c.6063C= (p.Ala2021=) c.5913C= (p.Ala1971=) | |
5 | g.128300917G>T | CA446309298 | FBN2 | n.2850C>A n.2769C>A c.6066C>A (p.Ala2022=) c.6063C>A (p.Ala2021=) c.5913C>A (p.Ala1971=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128300918G>A | CA360766584 | FBN2 | n.2849C>T n.2768C>T c.6065C>T (p.Ala2022Val) c.6062C>T (p.Ala2021Val) c.5912C>T (p.Ala1971Val) | gnomAD v4 |
5 | g.128300918G>C | CA360766586 | FBN2 | n.2849C>G n.2768C>G c.6065C>G (p.Ala2022Gly) c.6062C>G (p.Ala2021Gly) c.5912C>G (p.Ala1971Gly) | |
5 | g.128300918G>T | CA360766585 | FBN2 | n.2849C>A n.2768C>A c.6065C>A (p.Ala2022Asp) c.6062C>A (p.Ala2021Asp) c.5912C>A (p.Ala1971Asp) | |
5 | g.128300919C>A | CA360766587 | FBN2 | n.2848G>T n.2767G>T c.6064G>T (p.Ala2022Ser) c.6061G>T (p.Ala2021Ser) c.5911G>T (p.Ala1971Ser) | |
5 | g.128300919C= | CA1581253488 | FBN2 | n.2848G= n.2767G= c.6064G= (p.Ala2022=) c.6061G= (p.Ala2021=) c.5911G= (p.Ala1971=) | |
5 | g.128300919C>G | CA360766588 | FBN2 | n.2848G>C n.2767G>C c.6064G>C (p.Ala2022Pro) c.6061G>C (p.Ala2021Pro) c.5911G>C (p.Ala1971Pro) | |
5 | g.128300919C>T | CA3394507 | FBN2 | n.2848G>A n.2767G>A c.6064G>A (p.Ala2022Thr) c.6061G>A (p.Ala2021Thr) c.5911G>A (p.Ala1971Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128300920G>A | CA321141 | FBN2 | n.2847C>T n.2766C>T c.6063C>T (p.Val2021=) c.6060C>T (p.Val2020=) c.5910C>T (p.Val1970=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128300920G>C | CA446309300 | FBN2 | n.2847C>G n.2766C>G c.6063C>G (p.Val2021=) c.6060C>G (p.Val2020=) c.5910C>G (p.Val1970=) | |
5 | g.128300920G= | CA1581253489 | FBN2 | n.2847C= n.2766C= c.6063C= (p.Val2021=) c.6060C= (p.Val2020=) c.5910C= (p.Val1970=) | |
5 | g.128300920G>T | CA446309301 | FBN2 | n.2847C>A n.2766C>A c.6063C>A (p.Val2021=) c.6060C>A (p.Val2020=) c.5910C>A (p.Val1970=) | dbSNP |
5 | g.128300921A>C | CA360766589 | FBN2 | n.2846T>G n.2765T>G c.6062T>G (p.Val2021Gly) c.6059T>G (p.Val2020Gly) c.5909T>G (p.Val1970Gly) | |
5 | g.128300921A>G | CA360766590 | FBN2 | n.2846T>C n.2765T>C c.6062T>C (p.Val2021Ala) c.6059T>C (p.Val2020Ala) c.5909T>C (p.Val1970Ala) | |
5 | g.128300921A>T | CA360766591 | FBN2 | n.2846T>A n.2765T>A c.6062T>A (p.Val2021Asp) c.6059T>A (p.Val2020Asp) c.5909T>A (p.Val1970Asp) | |
5 | g.128300922C>A | CA360766592 | FBN2 | n.2845G>T n.2764G>T c.6061G>T (p.Val2021Phe) c.6058G>T (p.Val2020Phe) c.5908G>T (p.Val1970Phe) | gnomAD v4 |
5 | g.128300922C= | CA1581253490 | FBN2 | n.2845G= n.2764G= c.6061G= (p.Val2021=) c.6058G= (p.Val2020=) c.5908G= (p.Val1970=) | |
5 | g.128300922C>G | CA360766593 | FBN2 | n.2845G>C n.2764G>C c.6061G>C (p.Val2021Leu) c.6058G>C (p.Val2020Leu) c.5908G>C (p.Val1970Leu) | |
5 | g.128300922C>T | CA360766594 | FBN2 | n.2845G>A n.2764G>A c.6061G>A (p.Val2021Ile) c.6058G>A (p.Val2020Ile) c.5908G>A (p.Val1970Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128300923A>C | CA360766595 | FBN2 | n.2844T>G n.2763T>G c.6060T>G (p.Cys2020Trp) c.6057T>G (p.Cys2019Trp) c.5907T>G (p.Cys1969Trp) | |
5 | g.128300923A>G | CA446309302 | FBN2 | n.2844T>C n.2763T>C c.6060T>C (p.Cys2020=) c.6057T>C (p.Cys2019=) c.5907T>C (p.Cys1969=) | |
5 | g.128300923A>T | CA360766596 | FBN2 | n.2844T>A n.2763T>A c.6060T>A (p.Cys2020Ter) c.6057T>A (p.Cys2019Ter) c.5907T>A (p.Cys1969Ter) | |
5 | g.128300924C>A | CA360766599 | FBN2 | n.2843G>T n.2762G>T c.6059G>T (p.Cys2020Phe) c.6056G>T (p.Cys2019Phe) c.5906G>T (p.Cys1969Phe) | |
5 | g.128300924C>G | CA360766597 | FBN2 | n.2843G>C n.2762G>C c.6059G>C (p.Cys2020Ser) c.6056G>C (p.Cys2019Ser) c.5906G>C (p.Cys1969Ser) | |
5 | g.128300924C>T | CA360766598 | FBN2 | n.2843G>A n.2762G>A c.6059G>A (p.Cys2020Tyr) c.6056G>A (p.Cys2019Tyr) c.5906G>A (p.Cys1969Tyr) | |
5 | g.128300925A>C | CA360766600 | FBN2 | n.2842T>G n.2761T>G c.6058T>G (p.Cys2020Gly) c.6055T>G (p.Cys2019Gly) c.5905T>G (p.Cys1969Gly) | |
5 | g.128300925A>G | CA360766601 | FBN2 | n.2842T>C n.2761T>C c.6058T>C (p.Cys2020Arg) c.6055T>C (p.Cys2019Arg) c.5905T>C (p.Cys1969Arg) | |
5 | g.128300925A>T | CA360766602 | FBN2 | n.2842T>A n.2761T>A c.6058T>A (p.Cys2020Ser) c.6055T>A (p.Cys2019Ser) c.5905T>A (p.Cys1969Ser) | |
5 | g.128300926C>A | CA360766603 | FBN2 | n.2841G>T n.2760G>T c.6057G>T (p.Glu2019Asp) c.6054G>T (p.Glu2018Asp) c.5904G>T (p.Glu1968Asp) | |
5 | g.128300926C= | CA1581253491 | FBN2 | n.2841G= n.2760G= c.6057G= (p.Glu2019=) c.6054G= (p.Glu2018=) c.5904G= (p.Glu1968=) | |
5 | g.128300926C>G | CA360766604 | FBN2 | n.2841G>C n.2760G>C c.6057G>C (p.Glu2019Asp) c.6054G>C (p.Glu2018Asp) c.5904G>C (p.Glu1968Asp) | |
5 | g.128300926C>T | CA3394508 | FBN2 | n.2841G>A n.2760G>A c.6057G>A (p.Glu2019=) c.6054G>A (p.Glu2018=) c.5904G>A (p.Glu1968=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300927T>A | CA360766605 | FBN2 | n.2840A>T n.2759A>T c.6056A>T (p.Glu2019Val) c.6053A>T (p.Glu2018Val) c.5903A>T (p.Glu1968Val) | |
5 | g.128300927T>C | CA360766606 | FBN2 | n.2840A>G n.2759A>G c.6056A>G (p.Glu2019Gly) c.6053A>G (p.Glu2018Gly) c.5903A>G (p.Glu1968Gly) | ClinVar dbSNP |
5 | g.128300927T>G | CA360766607 | FBN2 | n.2840A>C n.2759A>C c.6056A>C (p.Glu2019Ala) c.6053A>C (p.Glu2018Ala) c.5903A>C (p.Glu1968Ala) | |
5 | g.128300927T= | CA1581253492 | FBN2 | n.2840A= n.2759A= c.6056A= (p.Glu2019=) c.6053A= (p.Glu2018=) c.5903A= (p.Glu1968=) | |
5 | g.128300928C>A | CA360766608 | FBN2 | n.2839G>T n.2758G>T c.6055G>T (p.Glu2019Ter) c.6052G>T (p.Glu2018Ter) c.5902G>T (p.Glu1968Ter) | |
5 | g.128300928C= | CA1581253493 | FBN2 | n.2839G= n.2758G= c.6055G= (p.Glu2019=) c.6052G= (p.Glu2018=) c.5902G= (p.Glu1968=) | |
5 | g.128300928C>G | CA360766609 | FBN2 | n.2839G>C n.2758G>C c.6055G>C (p.Glu2019Gln) c.6052G>C (p.Glu2018Gln) c.5902G>C (p.Glu1968Gln) | |
5 | g.128300928C>T | CA360766610 | FBN2 | n.2839G>A n.2758G>A c.6055G>A (p.Glu2019Lys) c.6052G>A (p.Glu2018Lys) c.5902G>A (p.Glu1968Lys) | ClinVar dbSNP gnomAD v4 |
5 | g.128300929A>C | CA360766611 | FBN2 | n.2838T>G n.2757T>G c.6054T>G (p.Asn2018Lys) c.6051T>G (p.Asn2017Lys) c.5901T>G (p.Asn1967Lys) | |
5 | g.128300929A>G | CA446309303 | FBN2 | n.2838T>C n.2757T>C c.6054T>C (p.Asn2018=) c.6051T>C (p.Asn2017=) c.5901T>C (p.Asn1967=) | |
5 | g.128300929A>T | CA360766612 | FBN2 | n.2838T>A n.2757T>A c.6054T>A (p.Asn2018Lys) c.6051T>A (p.Asn2017Lys) c.5901T>A (p.Asn1967Lys) | |
5 | g.128300930T>A | CA360766613 | FBN2 | n.2837A>T n.2756A>T c.6053A>T (p.Asn2018Ile) c.6050A>T (p.Asn2017Ile) c.5900A>T (p.Asn1967Ile) | |
5 | g.128300930T>C | CA360766614 | FBN2 | n.2837A>G n.2756A>G c.6053A>G (p.Asn2018Ser) c.6050A>G (p.Asn2017Ser) c.5900A>G (p.Asn1967Ser) | ClinVar gnomAD v4 |
5 | g.128300930T>G | CA360766615 | FBN2 | n.2837A>C n.2756A>C c.6053A>C (p.Asn2018Thr) c.6050A>C (p.Asn2017Thr) c.5900A>C (p.Asn1967Thr) | |
5 | g.128300931T>A | CA360766616 | FBN2 | n.2836A>T n.2755A>T c.6052A>T (p.Asn2018Tyr) c.6049A>T (p.Asn2017Tyr) c.5899A>T (p.Asn1967Tyr) | |
5 | g.128300931T>C | CA360766617 | FBN2 | n.2836A>G n.2755A>G c.6052A>G (p.Asn2018Asp) c.6049A>G (p.Asn2017Asp) c.5899A>G (p.Asn1967Asp) | |
5 | g.128300931T>G | CA360766618 | FBN2 | n.2836A>C n.2755A>C c.6052A>C (p.Asn2018His) c.6049A>C (p.Asn2017His) c.5899A>C (p.Asn1967His) | |
5 | g.128300932A>C | CA446309304 | FBN2 | n.2835T>G n.2754T>G c.6051T>G (p.Thr2017=) c.6048T>G (p.Thr2016=) c.5898T>G (p.Thr1966=) | |
5 | g.128300932A>G | CA446309306 | FBN2 | n.2835T>C n.2754T>C c.6051T>C (p.Thr2017=) c.6048T>C (p.Thr2016=) c.5898T>C (p.Thr1966=) | |
5 | g.128300932A>T | CA446309305 | FBN2 | n.2835T>A n.2754T>A c.6051T>A (p.Thr2017=) c.6048T>A (p.Thr2016=) c.5898T>A (p.Thr1966=) | |
5 | g.128300933G>A | CA3394509 | FBN2 | n.2834C>T n.2753C>T c.6050C>T (p.Thr2017Ile) c.6047C>T (p.Thr2016Ile) c.5897C>T (p.Thr1966Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300933G>C | CA360766619 | FBN2 | n.2834C>G n.2753C>G c.6050C>G (p.Thr2017Ser) c.6047C>G (p.Thr2016Ser) c.5897C>G (p.Thr1966Ser) | gnomAD v4 |
5 | g.128300933G= | CA1581253494 | FBN2 | n.2834C= n.2753C= c.6050C= (p.Thr2017=) c.6047C= (p.Thr2016=) c.5897C= (p.Thr1966=) | |
5 | g.128300933G>T | CA360766620 | FBN2 | n.2834C>A n.2753C>A c.6050C>A (p.Thr2017Asn) c.6047C>A (p.Thr2016Asn) c.5897C>A (p.Thr1966Asn) | |
5 | g.128300934T>A | CA360766621 | FBN2 | n.2833A>T n.2752A>T c.6049A>T (p.Thr2017Ser) c.6046A>T (p.Thr2016Ser) c.5896A>T (p.Thr1966Ser) | |
5 | g.128300934T>C | CA127043366 | FBN2 | n.2833A>G n.2752A>G c.6049A>G (p.Thr2017Ala) c.6046A>G (p.Thr2016Ala) c.5896A>G (p.Thr1966Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128300934T>G | CA360766622 | FBN2 | n.2833A>C n.2752A>C c.6049A>C (p.Thr2017Pro) c.6046A>C (p.Thr2016Pro) c.5896A>C (p.Thr1966Pro) | |
5 | g.128300934T= | CA1581253495 | FBN2 | n.2833A= n.2752A= c.6049A= (p.Thr2017=) c.6046A= (p.Thr2016=) c.5896A= (p.Thr1966=) | |
5 | g.128300935G>A | CA446309307 | FBN2 | n.2832C>T n.2751C>T c.6048C>T (p.Asp2016=) c.6045C>T (p.Asp2015=) c.5895C>T (p.Asp1965=) | dbSNP gnomAD v4 |
5 | g.128300935G>C | CA360766623 | FBN2 | n.2832C>G n.2751C>G c.6048C>G (p.Asp2016Glu) c.6045C>G (p.Asp2015Glu) c.5895C>G (p.Asp1965Glu) | |
5 | g.128300935G= | CA1581253496 | FBN2 | n.2832C= n.2751C= c.6048C= (p.Asp2016=) c.6045C= (p.Asp2015=) c.5895C= (p.Asp1965=) | |
5 | g.128300935G>T | CA360766624 | FBN2 | n.2832C>A n.2751C>A c.6048C>A (p.Asp2016Glu) c.6045C>A (p.Asp2015Glu) c.5895C>A (p.Asp1965Glu) | |
5 | g.128300936T>A | CA360766625 | FBN2 | n.2831A>T n.2750A>T c.6047A>T (p.Asp2016Val) c.6044A>T (p.Asp2015Val) c.5894A>T (p.Asp1965Val) | gnomAD v4 |
5 | g.128300936T>C | CA360766627 | FBN2 | n.2831A>G n.2750A>G c.6047A>G (p.Asp2016Gly) c.6044A>G (p.Asp2015Gly) c.5894A>G (p.Asp1965Gly) | |
5 | g.128300936T>G | CA360766626 | FBN2 | n.2831A>C n.2750A>C c.6047A>C (p.Asp2016Ala) c.6044A>C (p.Asp2015Ala) c.5894A>C (p.Asp1965Ala) | |
5 | g.128300937C>A | CA360766628 | FBN2 | n.2831-1G>T n.2750-1G>T c.6047-1G>T (n.6047-1G>T) c.6044-1G>T (n.6044-1G>T) c.5894-1G>T (n.5894-1G>T) | |
5 | g.128300937C= | CA1581253497 | FBN2 | n.2831-1G= n.2750-1G= c.6047-1G= (n.6047-1G=) c.6044-1G= (n.6044-1G=) c.5894-1G= (n.5894-1G=) | |
5 | g.128300937C>G | CA360766629 | FBN2 | n.2831-1G>C n.2750-1G>C c.6047-1G>C (n.6047-1G>C) c.6044-1G>C (n.6044-1G>C) c.5894-1G>C (n.5894-1G>C) | |
5 | g.128300937C>T | CA360766630 | FBN2 | n.2831-1G>A n.2750-1G>A c.6047-1G>A (n.6047-1G>A) c.6044-1G>A (n.6044-1G>A) c.5894-1G>A (n.5894-1G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128300938T>A | CA360766631 | FBN2 | n.2831-2A>T n.2750-2A>T c.6047-2A>T (n.6047-2A>T) c.6044-2A>T (n.6044-2A>T) c.5894-2A>T (n.5894-2A>T) | |
5 | g.128300938T>C | CA360766632 | FBN2 | n.2831-2A>G n.2750-2A>G c.6047-2A>G (n.6047-2A>G) c.6044-2A>G (n.6044-2A>G) c.5894-2A>G (n.5894-2A>G) | |
5 | g.128300938T>G | CA360766633 | FBN2 | n.2831-2A>C n.2750-2A>C c.6047-2A>C (n.6047-2A>C) c.6044-2A>C (n.6044-2A>C) c.5894-2A>C (n.5894-2A>C) | |
5 | g.128300939_128300940del | CA2838032988 | FBN2 | n.2831-3_2831-2del n.2750-3_2750-2del c.6047-3_6047-2del (n.6047-3_6047-2del) c.6044-3_6044-2del (n.6044-3_6044-2del) c.5894-3_5894-2del (n.5894-3_5894-2del) | |
5 | g.128300939T>G | CA1581253499 | FBN2 | n.2831-3A>C n.2750-3A>C c.6047-3A>C (n.6047-3A>C) c.6044-3A>C (n.6044-3A>C) c.5894-3A>C (n.5894-3A>C) | dbSNP |
5 | g.128300939T= | CA1581253498 | FBN2 | n.2831-3A= n.2750-3A= c.6047-3A= (n.6047-3A=) c.6044-3A= (n.6044-3A=) c.5894-3A= (n.5894-3A=) | |
5 | g.128300940T>C | CA562717116 | FBN2 | n.2831-4A>G n.2750-4A>G c.6047-4A>G (n.6047-4A>G) c.6044-4A>G (n.6044-4A>G) c.5894-4A>G (n.5894-4A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128300940T= | CA1581253501 | FBN2 | n.2831-4A= n.2750-4A= c.6047-4A= (n.6047-4A=) c.6044-4A= (n.6044-4A=) c.5894-4A= (n.5894-4A=) | |
5 | g.128300940_128300951delinsTAGAGAAAAAGA | CA1581253500 | FBN2 | n.2831-15_2831-4delinsTCTTTTTCTCTA n.2750-15_2750-4delinsTCTTTTTCTCTA c.6047-15_6047-4delinsTCTTTTTCTCTA (n.6047-15_6047-4delinsTCTTTTTCTCTA) c.6044-15_6044-4delinsTCTTTTTCTCTA (n.6044-15_6044-4delinsTCTTTTTCTCTA) c.5894-15_5894-4delinsTCTTTTTCTCTA (n.5894-15_5894-4delinsTCTTTTTCTCTA) | |
5 | g.128300941_128300942insAA | CA2556331933 | FBN2 | n.2831-5_2831-4insTT n.2750-5_2750-4insTT c.6047-5_6047-4insTT (n.6047-5_6047-4insTT) c.6044-5_6044-4insTT (n.6044-5_6044-4insTT) c.5894-5_5894-4insTT (n.5894-5_5894-4insTT) | |
5 | g.128300950_128300960del | CA3394510 | FBN2 | n.2831-15_2831-5del n.2750-15_2750-5del c.6047-15_6047-5del (n.6047-15_6047-5del) c.6044-15_6044-5del (n.6044-15_6044-5del) c.5894-15_5894-5del (n.5894-15_5894-5del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128300944G>C | CA2768335082 | FBN2 | n.2831-8C>G n.2750-8C>G c.6047-8C>G (n.6047-8C>G) c.6044-8C>G (n.6044-8C>G) c.5894-8C>G (n.5894-8C>G) | |
5 | g.128300944_128300945delinsGA | CA1581253502 | FBN2 | n.2831-9_2831-8delinsTC n.2750-9_2750-8delinsTC c.6047-9_6047-8delinsTC (n.6047-9_6047-8delinsTC) c.6044-9_6044-8delinsTC (n.6044-9_6044-8delinsTC) c.5894-9_5894-8delinsTC (n.5894-9_5894-8delinsTC) | |
5 | g.128300945A= | CA1581253503 | FBN2 | n.2831-9T= n.2750-9T= c.6047-9T= (n.6047-9T=) c.6044-9T= (n.6044-9T=) c.5894-9T= (n.5894-9T=) | |
5 | g.128300945A>G | CA127043385 | FBN2 | n.2831-9T>C n.2750-9T>C c.6047-9T>C (n.6047-9T>C) c.6044-9T>C (n.6044-9T>C) c.5894-9T>C (n.5894-9T>C) | dbSNP |
5 | g.128300949del | CA803626887 | FBN2 | n.2831-9del n.2750-9del c.6047-9del (n.6047-9del) c.6044-9del (n.6044-9del) c.5894-9del (n.5894-9del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128300948A= | CA1581253504 | FBN2 | n.2831-12T= n.2750-12T= c.6047-12T= (n.6047-12T=) c.6044-12T= (n.6044-12T=) c.5894-12T= (n.5894-12T=) | |
5 | g.128300948A>C | CA1581253505 | FBN2 | n.2831-12T>G n.2750-12T>G c.6047-12T>G (n.6047-12T>G) c.6044-12T>G (n.6044-12T>G) c.5894-12T>G (n.5894-12T>G) | dbSNP |
5 | g.128300949A= | CA1581253506 | FBN2 | n.2831-13T= n.2750-13T= c.6047-13T= (n.6047-13T=) c.6044-13T= (n.6044-13T=) c.5894-13T= (n.5894-13T=) | |
5 | g.128300949A>G | CA3394511 | FBN2 | n.2831-13T>C n.2750-13T>C c.6047-13T>C (n.6047-13T>C) c.6044-13T>C (n.6044-13T>C) c.5894-13T>C (n.5894-13T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128300950_128300953del | CA2558107312 | FBN2 | n.2831-17_2831-14del n.2750-17_2750-14del c.6047-17_6047-14del (n.6047-17_6047-14del) c.6044-17_6044-14del (n.6044-17_6044-14del) c.5894-17_5894-14del (n.5894-17_5894-14del) | |
5 | g.128300952A= | CA1581253507 | FBN2 | n.2831-16T= n.2750-16T= c.6047-16T= (n.6047-16T=) c.6044-16T= (n.6044-16T=) c.5894-16T= (n.5894-16T=) | |
5 | g.128300952A>G | CA1581253508 | FBN2 | n.2831-16T>C n.2750-16T>C c.6047-16T>C (n.6047-16T>C) c.6044-16T>C (n.6044-16T>C) c.5894-16T>C (n.5894-16T>C) | dbSNP |
5 | g.128300953G>A | CA2551673456 | FBN2 | n.2831-17C>T n.2750-17C>T c.6047-17C>T (n.6047-17C>T) c.6044-17C>T (n.6044-17C>T) c.5894-17C>T (n.5894-17C>T) | gnomAD v4 |
5 | g.128300953G>C | CA562717117 | FBN2 | n.2831-17C>G n.2750-17C>G c.6047-17C>G (n.6047-17C>G) c.6044-17C>G (n.6044-17C>G) c.5894-17C>G (n.5894-17C>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128300953G= | CA1581253509 | FBN2 | n.2831-17C= n.2750-17C= c.6047-17C= (n.6047-17C=) c.6044-17C= (n.6044-17C=) c.5894-17C= (n.5894-17C=) | |
5 | g.128300955G>A | CA2675114094 | FBN2 | n.2831-19C>T n.2750-19C>T c.6047-19C>T (n.6047-19C>T) c.6044-19C>T (n.6044-19C>T) c.5894-19C>T (n.5894-19C>T) | gnomAD v4 |
5 | g.128300955G= | CA1581253510 | FBN2 | n.2831-19C= n.2750-19C= c.6047-19C= (n.6047-19C=) c.6044-19C= (n.6044-19C=) c.5894-19C= (n.5894-19C=) | |
5 | g.128300955G>T | CA3394512 | FBN2 | n.2831-19C>A n.2750-19C>A c.6047-19C>A (n.6047-19C>A) c.6044-19C>A (n.6044-19C>A) c.5894-19C>A (n.5894-19C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300961del | CA2675114095 | FBN2 | n.2831-20del n.2750-20del c.6047-20del (n.6047-20del) c.6044-20del (n.6044-20del) c.5894-20del (n.5894-20del) | gnomAD v4 |
5 | g.128300960A>G | CA2675114096 | FBN2 | n.2831-24T>C n.2750-24T>C c.6047-24T>C (n.6047-24T>C) c.6044-24T>C (n.6044-24T>C) c.5894-24T>C (n.5894-24T>C) | gnomAD v4 |
5 | g.128300961A>T | CA2675114097 | FBN2 | n.2831-25T>A n.2750-25T>A c.6047-25T>A (n.6047-25T>A) c.6044-25T>A (n.6044-25T>A) c.5894-25T>A (n.5894-25T>A) | gnomAD v4 |
5 | g.128300962T>C | CA127043393 | FBN2 | n.2831-26A>G n.2750-26A>G c.6047-26A>G (n.6047-26A>G) c.6044-26A>G (n.6044-26A>G) c.5894-26A>G (n.5894-26A>G) | dbSNP |
5 | g.128300962T= | CA1581253511 | FBN2 | n.2831-26A= n.2750-26A= c.6047-26A= (n.6047-26A=) c.6044-26A= (n.6044-26A=) c.5894-26A= (n.5894-26A=) | |
5 | g.128300963A>G | CA2520875136 | FBN2 | n.2831-27T>C n.2750-27T>C c.6047-27T>C (n.6047-27T>C) c.6044-27T>C (n.6044-27T>C) c.5894-27T>C (n.5894-27T>C) | gnomAD v4 |
5 | g.128300964A>C | CA2675114098 | FBN2 | n.2831-28T>G n.2750-28T>G c.6047-28T>G (n.6047-28T>G) c.6044-28T>G (n.6044-28T>G) c.5894-28T>G (n.5894-28T>G) | gnomAD v4 |
5 | g.128300964A>G | CA2675114099 | FBN2 | n.2831-28T>C n.2750-28T>C c.6047-28T>C (n.6047-28T>C) c.6044-28T>C (n.6044-28T>C) c.5894-28T>C (n.5894-28T>C) | gnomAD v4 |
5 | g.128300965T>A | CA2841878163 | FBN2 | n.2831-29A>T n.2750-29A>T c.6047-29A>T (n.6047-29A>T) c.6044-29A>T (n.6044-29A>T) c.5894-29A>T (n.5894-29A>T) | |
5 | g.128300967T>C | CA127043398 | FBN2 | n.2831-31A>G n.2750-31A>G c.6047-31A>G (n.6047-31A>G) c.6044-31A>G (n.6044-31A>G) c.5894-31A>G (n.5894-31A>G) | dbSNP gnomAD v4 |
5 | g.128300967T= | CA1581253512 | FBN2 | n.2831-31A= n.2750-31A= c.6047-31A= (n.6047-31A=) c.6044-31A= (n.6044-31A=) c.5894-31A= (n.5894-31A=) | |
5 | g.128300968A>G | CA2675114100 | FBN2 | n.2831-32T>C n.2750-32T>C c.6047-32T>C (n.6047-32T>C) c.6044-32T>C (n.6044-32T>C) c.5894-32T>C (n.5894-32T>C) | gnomAD v4 |
5 | g.128300968A>T | CA2675114101 | FBN2 | n.2831-32T>A n.2750-32T>A c.6047-32T>A (n.6047-32T>A) c.6044-32T>A (n.6044-32T>A) c.5894-32T>A (n.5894-32T>A) | gnomAD v4 |
5 | g.128300970G>A | CA2519650599 | FBN2 | n.2831-34C>T n.2750-34C>T c.6047-34C>T (n.6047-34C>T) c.6044-34C>T (n.6044-34C>T) c.5894-34C>T (n.5894-34C>T) | |
5 | g.128300970G>C | CA562717118 | FBN2 | n.2831-34C>G n.2750-34C>G c.6047-34C>G (n.6047-34C>G) c.6044-34C>G (n.6044-34C>G) c.5894-34C>G (n.5894-34C>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128300970G= | CA1581253513 | FBN2 | n.2831-34C= n.2750-34C= c.6047-34C= (n.6047-34C=) c.6044-34C= (n.6044-34C=) c.5894-34C= (n.5894-34C=) | |
5 | g.128300970G>T | CA2675114102 | FBN2 | n.2831-34C>A n.2750-34C>A c.6047-34C>A (n.6047-34C>A) c.6044-34C>A (n.6044-34C>A) c.5894-34C>A (n.5894-34C>A) | gnomAD v4 |
5 | g.128300971C>G | CA2505181585 | FBN2 | n.2831-35G>C n.2750-35G>C c.6047-35G>C (n.6047-35G>C) c.6044-35G>C (n.6044-35G>C) c.5894-35G>C (n.5894-35G>C) | |
5 | g.128300971C>T | CA2578395895 | FBN2 | n.2831-35G>A n.2750-35G>A c.6047-35G>A (n.6047-35G>A) c.6044-35G>A (n.6044-35G>A) c.5894-35G>A (n.5894-35G>A) | gnomAD v4 |
5 | g.128300972A= | CA1581253514 | FBN2 | n.2831-36T= n.2750-36T= c.6047-36T= (n.6047-36T=) c.6044-36T= (n.6044-36T=) c.5894-36T= (n.5894-36T=) | |
5 | g.128300972A>G | CA562717119 | FBN2 | n.2831-36T>C n.2750-36T>C c.6047-36T>C (n.6047-36T>C) c.6044-36T>C (n.6044-36T>C) c.5894-36T>C (n.5894-36T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300973T>C | CA2709776012 | FBN2 | n.2831-37A>G n.2750-37A>G c.6047-37A>G (n.6047-37A>G) c.6044-37A>G (n.6044-37A>G) c.5894-37A>G (n.5894-37A>G) | dbSNP |
5 | g.128300973T>G | CA1081357973 | FBN2 | n.2831-37A>C n.2750-37A>C c.6047-37A>C (n.6047-37A>C) c.6044-37A>C (n.6044-37A>C) c.5894-37A>C (n.5894-37A>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128300973T= | CA1581253515 | FBN2 | n.2831-37A= n.2750-37A= c.6047-37A= (n.6047-37A=) c.6044-37A= (n.6044-37A=) c.5894-37A= (n.5894-37A=) | |
5 | g.128300974G>A | CA2675114103 | FBN2 | n.2831-38C>T n.2750-38C>T c.6047-38C>T (n.6047-38C>T) c.6044-38C>T (n.6044-38C>T) c.5894-38C>T (n.5894-38C>T) | gnomAD v4 |
5 | g.128300974G>T | CA2675114104 | FBN2 | n.2831-38C>A n.2750-38C>A c.6047-38C>A (n.6047-38C>A) c.6044-38C>A (n.6044-38C>A) c.5894-38C>A (n.5894-38C>A) | gnomAD v4 |
5 | g.128300975A= | CA1581253516 | FBN2 | n.2831-39T= n.2750-39T= c.6047-39T= (n.6047-39T=) c.6044-39T= (n.6044-39T=) c.5894-39T= (n.5894-39T=) | |
5 | g.128300975A>T | CA127043407 | FBN2 | n.2831-39T>A n.2750-39T>A c.6047-39T>A (n.6047-39T>A) c.6044-39T>A (n.6044-39T>A) c.5894-39T>A (n.5894-39T>A) | dbSNP gnomAD v4 |
5 | g.128300976G= | CA1581253517 | FBN2 | n.2831-40C= n.2750-40C= c.6047-40C= (n.6047-40C=) c.6044-40C= (n.6044-40C=) c.5894-40C= (n.5894-40C=) | |
5 | g.128300976G>T | CA3394513 | FBN2 | n.2831-40C>A n.2750-40C>A c.6047-40C>A (n.6047-40C>A) c.6044-40C>A (n.6044-40C>A) c.5894-40C>A (n.5894-40C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300977A= | CA1581253518 | FBN2 | n.2831-41T= n.2750-41T= c.6047-41T= (n.6047-41T=) c.6044-41T= (n.6044-41T=) c.5894-41T= (n.5894-41T=) | |
5 | g.128300977A>G | CA3394514 | FBN2 | n.2831-41T>C n.2750-41T>C c.6047-41T>C (n.6047-41T>C) c.6044-41T>C (n.6044-41T>C) c.5894-41T>C (n.5894-41T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300977A>T | CA2675114105 | FBN2 | n.2831-41T>A n.2750-41T>A c.6047-41T>A (n.6047-41T>A) c.6044-41T>A (n.6044-41T>A) c.5894-41T>A (n.5894-41T>A) | gnomAD v4 |
5 | g.128300979A= | CA1581253519 | FBN2 | n.2831-43T= n.2750-43T= c.6047-43T= (n.6047-43T=) c.6044-43T= (n.6044-43T=) c.5894-43T= (n.5894-43T=) | |
5 | g.128300979A>T | CA562717211 | FBN2 | n.2831-43T>A n.2750-43T>A c.6047-43T>A (n.6047-43T>A) c.6044-43T>A (n.6044-43T>A) c.5894-43T>A (n.5894-43T>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128300980dup | CA2675114106 | FBN2 | n.2831-43dup n.2750-43dup c.6047-43dup (n.6047-43dup) c.6044-43dup (n.6044-43dup) c.5894-43dup (n.5894-43dup) | gnomAD v4 |
5 | g.128300980del | CA2675114107 | FBN2 | n.2831-43del n.2750-43del c.6047-43del (n.6047-43del) c.6044-43del (n.6044-43del) c.5894-43del (n.5894-43del) | gnomAD v4 |
5 | g.128300980A>T | CA2578395896 | FBN2 | n.2831-44T>A n.2750-44T>A c.6047-44T>A (n.6047-44T>A) c.6044-44T>A (n.6044-44T>A) c.5894-44T>A (n.5894-44T>A) |