Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48537771del | CA658824888 | FBN1 | c.577del (p.Gln193ArgfsTer?) c.577del (p.Gln193ArgfsTer23) | ClinVar dbSNP |
15 | g.48537771G>A | CA490090181 | FBN1 | c.576C>T (p.Asn192=) | dbSNP gnomAD v4 |
15 | g.48537771G>C | CA392446121 | FBN1 | c.576C>G (p.Asn192Lys) | gnomAD v4 |
15 | g.48537771G= | CA2175539565 | FBN1 | c.576C= (p.Asn192=) | |
15 | g.48537771G>T | CA392446122 | FBN1 | c.576C>A (p.Asn192Lys) | gnomAD v4 |
15 | g.48537772T>A | CA392446123 | FBN1 | c.575A>T (p.Asn192Ile) | |
15 | g.48537772T>C | CA055494 | FBN1 | c.575A>G (p.Asn192Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537772T>G | CA392446124 | FBN1 | c.575A>C (p.Asn192Thr) | |
15 | g.48537772T= | CA2175539568 | FBN1 | c.575A= (p.Asn192=) | |
15 | g.48537773T>A | CA392446125 | FBN1 | c.574A>T (p.Asn192Tyr) | |
15 | g.48537773T>C | CA392446127 | FBN1 | c.574A>G (p.Asn192Asp) | dbSNP |
15 | g.48537773T>G | CA392446126 | FBN1 | c.574A>C (p.Asn192His) | gnomAD v4 |
15 | g.48537773T= | CA2175539571 | FBN1 | c.574A= (p.Asn192=) | |
15 | g.48537774G>A | CA055479 | FBN1 | c.573C>T (p.Ser191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48537774G>C | CA392446129 | FBN1 | c.573C>G (p.Ser191Arg) | |
15 | g.48537774G= | CA2175539575 | FBN1 | c.573C= (p.Ser191=) | |
15 | g.48537774G>T | CA392446128 | FBN1 | c.573C>A (p.Ser191Arg) | |
15 | g.48537775C>A | CA055454 | FBN1 | c.572G>T (p.Ser191Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48537775C= | CA2175539577 | FBN1 | c.572G= (p.Ser191=) | |
15 | g.48537775C>G | CA392446130 | FBN1 | c.572G>C (p.Ser191Thr) | |
15 | g.48537775C>T | CA392446131 | FBN1 | c.572G>A (p.Ser191Asn) | |
15 | g.48537775_48537776insCCAGGGA | CA2695220430 | FBN1 | c.571_572insTCCCTGG (p.Ser191IlefsTer?) | |
15 | g.48537776T>A | CA392446132 | FBN1 | c.571A>T (p.Ser191Cys) | |
15 | g.48537776T>C | CA392446133 | FBN1 | c.571A>G (p.Ser191Gly) | gnomAD v4 |
15 | g.48537776T>G | CA392446134 | FBN1 | c.571A>C (p.Ser191Arg) | |
15 | g.48537777G>A | CA490090190 | FBN1 | c.570C>T (p.Ile190=) | ClinVar |
15 | g.48537777G>C | CA392446135 | FBN1 | c.570C>G (p.Ile190Met) | |
15 | g.48537777G>T | CA490090191 | FBN1 | c.570C>A (p.Ile190=) | |
15 | g.48537778A>C | CA392446136 | FBN1 | c.569T>G (p.Ile190Ser) | |
15 | g.48537778A>G | CA392446137 | FBN1 | c.569T>C (p.Ile190Thr) | |
15 | g.48537778A>T | CA392446138 | FBN1 | c.569T>A (p.Ile190Asn) | |
15 | g.48537779T>A | CA270013630 | FBN1 | c.568A>T (p.Ile190Phe) | dbSNP |
15 | g.48537779T>C | CA055422 | FBN1 | c.568A>G (p.Ile190Val) | dbSNP ExAC gnomAD v2 |
15 | g.48537779T>G | CA392446139 | FBN1 | c.568A>C (p.Ile190Leu) | ClinVar dbSNP |
15 | g.48537779T= | CA2175539581 | FBN1 | c.568A= (p.Ile190=) | |
15 | g.48537780C>A | CA490090198 | FBN1 | c.567G>T (p.Val189=) | |
15 | g.48537780C>G | CA490090197 | FBN1 | c.567G>C (p.Val189=) | |
15 | g.48537780C>T | CA490090195 | FBN1 | c.567G>A (p.Val189=) | |
15 | g.48537781A>C | CA392446140 | FBN1 | c.566T>G (p.Val189Gly) | gnomAD v4 |
15 | g.48537781A>G | CA392446141 | FBN1 | c.566T>C (p.Val189Ala) | |
15 | g.48537781A>T | CA392446142 | FBN1 | c.566T>A (p.Val189Glu) | |
15 | g.48537782del | CA2499223017 | FBN1 | c.565del (p.Val189Ter) | ClinVar dbSNP |
15 | g.48537782C>A | CA392446143 | FBN1 | c.565G>T (p.Val189Leu) | ClinVar dbSNP gnomAD v4 |
15 | g.48537782C= | CA2175539586 | FBN1 | c.565G= (p.Val189=) | |
15 | g.48537782C>G | CA392446144 | FBN1 | c.565G>C (p.Val189Leu) | |
15 | g.48537782C>T | CA392446145 | FBN1 | c.565G>A (p.Val189Met) | |
15 | g.48537783A>C | CA490090204 | FBN1 | c.564T>G (p.Thr188=) | |
15 | g.48537783A>G | CA490090202 | FBN1 | c.564T>C (p.Thr188=) | |
15 | g.48537783A>T | CA490090203 | FBN1 | c.564T>A (p.Thr188=) | |
15 | g.48537784G>A | CA392446146 | FBN1 | c.563C>T (p.Thr188Ile) | |
15 | g.48537784G>C | CA392446147 | FBN1 | c.563C>G (p.Thr188Ser) | |
15 | g.48537784G>T | CA392446148 | FBN1 | c.563C>A (p.Thr188Asn) | |
15 | g.48537785T>A | CA392446149 | FBN1 | c.562A>T (p.Thr188Ser) | |
15 | g.48537785T>C | CA392446150 | FBN1 | c.562A>G (p.Thr188Ala) | |
15 | g.48537785T>G | CA392446151 | FBN1 | c.562A>C (p.Thr188Pro) | |
15 | g.48537785_48537786delinsTA | CA2175539588 | FBN1 | c.561_562delinsTA (p.Phe187=) | |
15 | g.48537786A>C | CA392446152 | FBN1 | c.561T>G (p.Phe187Leu) | |
15 | g.48537786A>G | CA490090208 | FBN1 | c.561T>C (p.Phe187=) | |
15 | g.48537786A>T | CA392446153 | FBN1 | c.561T>A (p.Phe187Leu) | |
15 | g.48537789del | CA015919 | FBN1 | c.561del (p.Phe187LeufsTer3) | ClinVar dbSNP |
15 | g.48537787A= | CA2175539594 | FBN1 | c.560T= (p.Phe187=) | |
15 | g.48537787A>C | CA392446154 | FBN1 | c.560T>G (p.Phe187Cys) | |
15 | g.48537787A>G | CA392446155 | FBN1 | c.560T>C (p.Phe187Ser) | |
15 | g.48537787A>T | CA392446156 | FBN1 | c.560T>A (p.Phe187Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537788A>C | CA392446157 | FBN1 | c.559T>G (p.Phe187Val) | |
15 | g.48537788A>G | CA392446158 | FBN1 | c.559T>C (p.Phe187Leu) | |
15 | g.48537788A>T | CA392446159 | FBN1 | c.559T>A (p.Phe187Ile) | |
15 | g.48537789A= | CA2175539598 | FBN1 | c.558T= (p.Cys186=) | |
15 | g.48537789A>C | CA392446161 | FBN1 | c.558T>G (p.Cys186Trp) | |
15 | g.48537789A>G | CA490090212 | FBN1 | c.558T>C (p.Cys186=) | |
15 | g.48537789A>T | CA392446160 | FBN1 | c.558T>A (p.Cys186Ter) | ClinVar dbSNP |
15 | g.48537790C>A | CA392446162 | FBN1 | c.557G>T (p.Cys186Phe) | |
15 | g.48537790C>G | CA392446163 | FBN1 | c.557G>C (p.Cys186Ser) | |
15 | g.48537790C>T | CA392446164 | FBN1 | c.557G>A (p.Cys186Tyr) | ClinVar |
15 | g.48537790_48537793delinsCATG | CA2175539603 | FBN1 | c.554_557delinsCATG (p.Pro185=) | |
15 | g.48537791A= | CA2175539615 | FBN1 | c.556T= (p.Cys186=) | |
15 | g.48537791A>C | CA392446165 | FBN1 | c.556T>G (p.Cys186Gly) | |
15 | g.48537791A>G | CA015898 | FBN1 | c.556T>C (p.Cys186Arg) | ClinVar dbSNP |
15 | g.48537791A>T | CA392446166 | FBN1 | c.556T>A (p.Cys186Ser) | |
15 | g.48537791_48537793del | CA658824889 | FBN1 | c.554_556del (p.Pro185_Cys186delinsArg) | ClinVar dbSNP |
15 | g.48537792T>A | CA490090213 | FBN1 | c.555A>T (p.Pro185=) | |
15 | g.48537792T>C | CA490090214 | FBN1 | c.555A>G (p.Pro185=) | ClinVar dbSNP gnomAD v4 |
15 | g.48537792T>G | CA490090215 | FBN1 | c.555A>C (p.Pro185=) | |
15 | g.48537792T= | CA2175539620 | FBN1 | c.555A= (p.Pro185=) | |
15 | g.48537793G>A | CA392446167 | FBN1 | c.554C>T (p.Pro185Leu) | ClinVar dbSNP gnomAD v4 |
15 | g.48537793G>C | CA392446169 | FBN1 | c.554C>G (p.Pro185Arg) | |
15 | g.48537793G= | CA2175539624 | FBN1 | c.554C= (p.Pro185=) | |
15 | g.48537793G>T | CA392446168 | FBN1 | c.554C>A (p.Pro185Gln) | |
15 | g.48537795del | CA2695220432 | FBN1 | c.554del (p.Pro185HisfsTer5) | |
15 | g.48537794G>A | CA392446170 | FBN1 | c.553C>T (p.Pro185Ser) | |
15 | g.48537794G>C | CA392446171 | FBN1 | c.553C>G (p.Pro185Ala) | |
15 | g.48537794G>T | CA392446172 | FBN1 | c.553C>A (p.Pro185Thr) | |
15 | g.48537795G>A | CA490090217 | FBN1 | c.552C>T (p.Gly184=) | |
15 | g.48537795G>C | CA490090218 | FBN1 | c.552C>G (p.Gly184=) | |
15 | g.48537795G= | CA2175539627 | FBN1 | c.552C= (p.Gly184=) | |
15 | g.48537795G>T | CA490090219 | FBN1 | c.552C>A (p.Gly184=) | ClinVar dbSNP gnomAD v4 |
15 | g.48537796C>A | CA392446173 | FBN1 | c.551G>T (p.Gly184Val) | |
15 | g.48537796C>G | CA392446174 | FBN1 | c.551G>C (p.Gly184Ala) | |
15 | g.48537796C>T | CA392446175 | FBN1 | c.551G>A (p.Gly184Asp) | |
15 | g.48537797del | CA2740096695 | FBN1 | c.551del (p.Gly184AlafsTer6) | ClinVar |
15 | g.48537797C>A | CA392446176 | FBN1 | c.550G>T (p.Gly184Cys) | |
15 | g.48537797C>G | CA392446177 | FBN1 | c.550G>C (p.Gly184Arg) | |
15 | g.48537797C>T | CA392446178 | FBN1 | c.550G>A (p.Gly184Ser) | |
15 | g.48537798T>A | CA490090224 | FBN1 | c.549A>T (p.Thr183=) | |
15 | g.48537798T>C | CA490090226 | FBN1 | c.549A>G (p.Thr183=) | |
15 | g.48537798T>G | CA490090225 | FBN1 | c.549A>C (p.Thr183=) | |
15 | g.48537799G>A | CA392446179 | FBN1 | c.548C>T (p.Thr183Ile) | gnomAD v4 |
15 | g.48537799G>C | CA392446180 | FBN1 | c.548C>G (p.Thr183Arg) | |
15 | g.48537799G>T | CA392446181 | FBN1 | c.548C>A (p.Thr183Lys) | COSMIC |
15 | g.48537800T>A | CA392446182 | FBN1 | c.547A>T (p.Thr183Ser) | |
15 | g.48537800T>C | CA392446184 | FBN1 | c.547A>G (p.Thr183Ala) | gnomAD v4 |
15 | g.48537800T>G | CA392446183 | FBN1 | c.547A>C (p.Thr183Pro) | |
15 | g.48537801C>A | CA392446185 | FBN1 | c.546G>T (p.Arg182Ser) | |
15 | g.48537801C>G | CA392446186 | FBN1 | c.546G>C (p.Arg182Ser) | gnomAD v4 |
15 | g.48537801C>T | CA490090230 | FBN1 | c.546G>A (p.Arg182=) | gnomAD v4 |
15 | g.48537802C>A | CA392446187 | FBN1 | c.545G>T (p.Arg182Met) | |
15 | g.48537802C= | CA2175539634 | FBN1 | c.545G= (p.Arg182=) | |
15 | g.48537802C>G | CA392446189 | FBN1 | c.545G>C (p.Arg182Thr) | |
15 | g.48537802C>T | CA392446188 | FBN1 | c.545G>A (p.Arg182Lys) | ClinVar dbSNP |
15 | g.48537803T>A | CA392446190 | FBN1 | c.544A>T (p.Arg182Trp) | |
15 | g.48537803T>C | CA392446191 | FBN1 | c.544A>G (p.Arg182Gly) | |
15 | g.48537803T>G | CA490090232 | FBN1 | c.544A>C (p.Arg182=) | |
15 | g.48537804G>A | CA490090233 | FBN1 | c.543C>T (p.Tyr181=) | ClinVar dbSNP |
15 | g.48537804G>C | CA392446192 | FBN1 | c.543C>G (p.Tyr181Ter) | ClinVar dbSNP |
15 | g.48537804G= | CA2175539640 | FBN1 | c.543C= (p.Tyr181=) | |
15 | g.48537804G>T | CA392446193 | FBN1 | c.543C>A (p.Tyr181Ter) | |
15 | g.48537805T>A | CA392446194 | FBN1 | c.542A>T (p.Tyr181Phe) | |
15 | g.48537805T>C | CA392446195 | FBN1 | c.542A>G (p.Tyr181Cys) | |
15 | g.48537805T>G | CA392446196 | FBN1 | c.542A>C (p.Tyr181Ser) | |
15 | g.48537806A>C | CA392446197 | FBN1 | c.541T>G (p.Tyr181Asp) | |
15 | g.48537806A>G | CA392446198 | FBN1 | c.541T>C (p.Tyr181His) | |
15 | g.48537806A>T | CA392446199 | FBN1 | c.541T>A (p.Tyr181Asn) | |
15 | g.48537807A>C | CA392446200 | FBN1 | c.540T>G (p.Asp180Glu) | |
15 | g.48537807A>G | CA490090238 | FBN1 | c.540T>C (p.Asp180=) | |
15 | g.48537807A>T | CA392446201 | FBN1 | c.540T>A (p.Asp180Glu) | |
15 | g.48537808T>A | CA392446204 | FBN1 | c.539A>T (p.Asp180Val) | |
15 | g.48537808T>C | CA392446202 | FBN1 | c.539A>G (p.Asp180Gly) | |
15 | g.48537808T>G | CA392446203 | FBN1 | c.539A>C (p.Asp180Ala) | |
15 | g.48537809C>A | CA10603465 | FBN1 | c.539-1G>T (n.539-1G>T) | ClinVar dbSNP |
15 | g.48537809C= | CA2175539646 | FBN1 | c.539-1G= (n.539-1G=) | |
15 | g.48537809C>G | CA392446205 | FBN1 | c.539-1G>C (n.539-1G>C) | |
15 | g.48537809C>T | CA015791 | FBN1 | c.539-1G>A (n.539-1G>A) | ClinVar dbSNP |
15 | g.48537810T>A | CA392446206 | FBN1 | c.539-2A>T (n.539-2A>T) | |
15 | g.48537810T>C | CA392446207 | FBN1 | c.539-2A>G (n.539-2A>G) | ClinVar dbSNP |
15 | g.48537810T>G | CA392446208 | FBN1 | c.539-2A>C (n.539-2A>C) | |
15 | g.48537818A= | CA2175539651 | FBN1 | c.539-10T= (n.539-10T=) | |
15 | g.48537818A>G | CA054814 | FBN1 | c.539-10T>C (n.539-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48537819A>G | CA2628337612 | FBN1 | c.539-11T>C (n.539-11T>C) | gnomAD v4 |
15 | g.48537820_48537821insTAATGAACACCAC | CA2531249833 | FBN1 | c.539-13_539-12insGTGGTGTTCATTA (n.539-13_539-12insGTGGTGTTCATTA) | |
15 | g.48537821A= | CA2175539654 | FBN1 | c.539-13T= (n.539-13T=) | |
15 | g.48537821A>C | CA2628337613 | FBN1 | c.539-13T>G (n.539-13T>G) | gnomAD v4 |
15 | g.48537821A>G | CA054817 | FBN1 | c.539-13T>C (n.539-13T>C) | dbSNP ExAC gnomAD v2 |
15 | g.48537822A>C | CA2628337614 | FBN1 | c.539-14T>G (n.539-14T>G) | gnomAD v4 |
15 | g.48537822_48537823delinsAT | CA2175539655 | FBN1 | c.539-15_539-14delinsAT (n.539-15_539-14delinsAT) | |
15 | g.48537823del | CA015782 | FBN1 | c.539-15del (n.539-15del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537823T>A | CA054828 | FBN1 | c.539-15A>T (n.539-15A>T) | dbSNP ExAC gnomAD v4 |
15 | g.48537823T>C | CA2581215367 | FBN1 | c.539-15A>G (n.539-15A>G) | |
15 | g.48537823T>G | CA2581215366 | FBN1 | c.539-15A>C (n.539-15A>C) | |
15 | g.48537823T= | CA2175539659 | FBN1 | c.539-15A= (n.539-15A=) | |
15 | g.48537828del | CA392446209 | FBN1 | c.539-16del (n.539-16del) | |
15 | g.48537826A= | CA2175539662 | FBN1 | c.539-18T= (n.539-18T=) | |
15 | g.48537826A>G | CA2175539663 | FBN1 | c.539-18T>C (n.539-18T>C) | dbSNP |
15 | g.48537830C= | CA2175539665 | FBN1 | c.539-22G= (n.539-22G=) | |
15 | g.48537830C>G | CA2175539666 | FBN1 | c.539-22G>C (n.539-22G>C) | dbSNP |
15 | g.48537834T>A | CA2628337615 | FBN1 | c.539-26A>T (n.539-26A>T) | gnomAD v4 |
15 | g.48537834T>C | CA2575717766 | FBN1 | c.539-26A>G (n.539-26A>G) | gnomAD v4 |
15 | g.48537834T>G | CA2175539669 | FBN1 | c.539-26A>C (n.539-26A>C) | dbSNP |
15 | g.48537834T= | CA2175539667 | FBN1 | c.539-26A= (n.539-26A=) | |
15 | g.48537835G= | CA2175539670 | FBN1 | c.539-27C= (n.539-27C=) | |
15 | g.48537835G>T | CA713405939 | FBN1 | c.539-27C>A (n.539-27C>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537839dup | CA618011962 | FBN1 | c.539-28dup (n.539-28dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537841C>A | CA2730867511 | FBN1 | c.539-33G>T (n.539-33G>T) | dbSNP |
15 | g.48537847A>G | CA2730867830 | FBN1 | c.539-39T>C (n.539-39T>C) | dbSNP |
15 | g.48537848A>G | CA2628337616 | FBN1 | c.539-40T>C (n.539-40T>C) | gnomAD v4 |
15 | g.48537849G>A | CA270013658 | FBN1 | c.539-41C>T (n.539-41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537849G= | CA2175539674 | FBN1 | c.539-41C= (n.539-41C=) | |
15 | g.48537850C= | CA2175539676 | FBN1 | c.539-42G= (n.539-42G=) | |
15 | g.48537850C>T | CA969574508 | FBN1 | c.539-42G>A (n.539-42G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537857C>A | CA618011963 | FBN1 | c.539-49G>T (n.539-49G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537857C= | CA2175539679 | FBN1 | c.539-49G= (n.539-49G=) | |
15 | g.48537857C>T | CA2175539678 | FBN1 | c.539-49G>A (n.539-49G>A) | dbSNP |
15 | g.48537858A= | CA2175539682 | FBN1 | c.539-50T= (n.539-50T=) | |
15 | g.48537858A>G | CA270013663 | FBN1 | c.539-50T>C (n.539-50T>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48537859dup | CA2628337617 | FBN1 | c.539-51dup (n.539-51dup) | gnomAD v4 |
15 | g.48537860del | CA2730867833 | FBN1 | c.539-52del (n.539-52del) | dbSNP |
15 | g.48537860C>A | CA2628337618 | FBN1 | c.539-52G>T (n.539-52G>T) | gnomAD v4 |
15 | g.48537861A= | CA2175539684 | FBN1 | c.539-53T= (n.539-53T=) | |
15 | g.48537861A>G | CA2175539685 | FBN1 | c.539-53T>C (n.539-53T>C) | dbSNP gnomAD v4 |
15 | g.48537861_48537862insGATTTTTATTCTTTAT | CA2570321536 | FBN1 | c.539-54_539-53insATAAAGAATAAAAATC (n.539-54_539-53insATAAAGAATAAAAATC) | |
15 | g.48537862T>C | CA713405946 | FBN1 | c.539-54A>G (n.539-54A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537862T= | CA2175539687 | FBN1 | c.539-54A= (n.539-54A=) | |
15 | g.48537863G>A | CA2537806660 | FBN1 | c.539-55C>T (n.539-55C>T) | |
15 | g.48537863G= | CA2175539689 | FBN1 | c.539-55C= (n.539-55C=) | |
15 | g.48537863G>T | CA713405949 | FBN1 | c.539-55C>A (n.539-55C>A) | dbSNP gnomAD v4 |
15 | g.48537864C= | CA2175539690 | FBN1 | c.539-56G= (n.539-56G=) | |
15 | g.48537864C>T | CA2175539691 | FBN1 | c.539-56G>A (n.539-56G>A) | dbSNP gnomAD v4 |
15 | g.48537865A>G | CA2575717769 | FBN1 | c.539-57T>C (n.539-57T>C) | |
15 | g.48537868G>A | CA617942158 | FBN1 | c.539-60C>T (n.539-60C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537868G= | CA2175539693 | FBN1 | c.539-60C= (n.539-60C=) | |
15 | g.48537868G>T | CA2575717770 | FBN1 | c.539-60C>A (n.539-60C>A) | gnomAD v4 |
15 | g.48537871del | CA2575717771 | FBN1 | c.539-62del (n.539-62del) | |
15 | g.48537871A= | CA2175539696 | FBN1 | c.539-63T= (n.539-63T=) | |
15 | g.48537871A>G | CA969574516 | FBN1 | c.539-63T>C (n.539-63T>C) | dbSNP gnomAD v3 gnomAD v4 |