Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48520695T>A | CA392347252 | FBN1 | c.1111A>T (p.Thr371Ser) c.636+17016A>T (n.636+17016A>T) | |
15 | g.48520695T>C | CA392347255 | FBN1 | c.1111A>G (p.Thr371Ala) c.636+17016A>G (n.636+17016A>G) | |
15 | g.48520695T>G | CA392347257 | FBN1 | c.1111A>C (p.Thr371Pro) c.636+17016A>C (n.636+17016A>C) | |
15 | g.48520696G>A | CA043533 | FBN1 | c.1110C>T (p.Val370=) c.636+17015C>T (n.636+17015C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48520696G>C | CA490028479 | FBN1 | c.1110C>G (p.Val370=) c.636+17015C>G (n.636+17015C>G) | |
15 | g.48520696G= | CA2175537466 | FBN1 | c.1110C= (p.Val370=) c.636+17015C= (n.636+17015C=) | |
15 | g.48520696G>T | CA490028478 | FBN1 | c.1110C>A (p.Val370=) c.636+17015C>A (n.636+17015C>A) | |
15 | g.48520696_48520697insC | CA2695220330 | FBN1 | c.1109_1110insG (p.Thr371HisfsTer5) c.636+17014_636+17015insG (n.636+17014_636+17015insG) | |
15 | g.48520697A>C | CA392347262 | FBN1 | c.1109T>G (p.Val370Gly) c.636+17014T>G (n.636+17014T>G) | |
15 | g.48520697A>G | CA392347269 | FBN1 | c.1109T>C (p.Val370Ala) c.636+17014T>C (n.636+17014T>C) | |
15 | g.48520697A>T | CA392347265 | FBN1 | c.1109T>A (p.Val370Asp) c.636+17014T>A (n.636+17014T>A) | gnomAD v4 |
15 | g.48520698C>A | CA392347275 | FBN1 | c.1108G>T (p.Val370Phe) c.636+17013G>T (n.636+17013G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48520698C= | CA2175537470 | FBN1 | c.1108G= (p.Val370=) c.636+17013G= (n.636+17013G=) | |
15 | g.48520698C>G | CA392347276 | FBN1 | c.1108G>C (p.Val370Leu) c.636+17013G>C (n.636+17013G>C) | |
15 | g.48520698C>T | CA392347279 | FBN1 | c.1108G>A (p.Val370Ile) c.636+17013G>A (n.636+17013G>A) | |
15 | g.48520699C>A | CA490028480 | FBN1 | c.1107G>T (p.Gly369=) c.636+17012G>T (n.636+17012G>T) | |
15 | g.48520699C= | CA2175537473 | FBN1 | c.1107G= (p.Gly369=) c.636+17012G= (n.636+17012G=) | |
15 | g.48520699C>G | CA490028481 | FBN1 | c.1107G>C (p.Gly369=) c.636+17012G>C (n.636+17012G>C) | |
15 | g.48520699C>T | CA043518 | FBN1 | c.1107G>A (p.Gly369=) c.636+17012G>A (n.636+17012G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48520700C>A | CA392347284 | FBN1 | c.1106G>T (p.Gly369Val) c.636+17011G>T (n.636+17011G>T) | |
15 | g.48520700C>G | CA392347294 | FBN1 | c.1106G>C (p.Gly369Ala) c.636+17011G>C (n.636+17011G>C) | ClinVar |
15 | g.48520700C>T | CA392347295 | FBN1 | c.1106G>A (p.Gly369Glu) c.636+17011G>A (n.636+17011G>A) | |
15 | g.48520701C>A | CA392347298 | FBN1 | c.1105G>T (p.Gly369Trp) c.636+17010G>T (n.636+17010G>T) | |
15 | g.48520701C= | CA2175537477 | FBN1 | c.1105G= (p.Gly369=) c.636+17010G= (n.636+17010G=) | |
15 | g.48520701C>G | CA392347301 | FBN1 | c.1105G>C (p.Gly369Arg) c.636+17010G>C (n.636+17010G>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48520701C>T | CA392347304 | FBN1 | c.1105G>A (p.Gly369Arg) c.636+17010G>A (n.636+17010G>A) | gnomAD v4 |
15 | g.48520702T>A | CA490028482 | FBN1 | c.1104A>T (p.Pro368=) c.636+17009A>T (n.636+17009A>T) | gnomAD v4 |
15 | g.48520702T>C | CA490028483 | FBN1 | c.1104A>G (p.Pro368=) c.636+17009A>G (n.636+17009A>G) | |
15 | g.48520702T>G | CA490028484 | FBN1 | c.1104A>C (p.Pro368=) c.636+17009A>C (n.636+17009A>C) | |
15 | g.48520703G>A | CA392347314 | FBN1 | c.1103C>T (p.Pro368Leu) c.636+17008C>T (n.636+17008C>T) | |
15 | g.48520703G>C | CA392347310 | FBN1 | c.1103C>G (p.Pro368Arg) c.636+17008C>G (n.636+17008C>G) | |
15 | g.48520703G>T | CA392347309 | FBN1 | c.1103C>A (p.Pro368Gln) c.636+17008C>A (n.636+17008C>A) | |
15 | g.48520704G>A | CA392347318 | FBN1 | c.1102C>T (p.Pro368Ser) c.636+17007C>T (n.636+17007C>T) | gnomAD v4 |
15 | g.48520704G>C | CA392347322 | FBN1 | c.1102C>G (p.Pro368Ala) c.636+17007C>G (n.636+17007C>G) | |
15 | g.48520704G>T | CA392347325 | FBN1 | c.1102C>A (p.Pro368Thr) c.636+17007C>A (n.636+17007C>A) | |
15 | g.48520705A>C | CA490028487 | FBN1 | c.1101T>G (p.Ser367=) c.636+17006T>G (n.636+17006T>G) | gnomAD v4 |
15 | g.48520705A>G | CA490028485 | FBN1 | c.1101T>C (p.Ser367=) c.636+17006T>C (n.636+17006T>C) | |
15 | g.48520705A>T | CA490028486 | FBN1 | c.1101T>A (p.Ser367=) c.636+17006T>A (n.636+17006T>A) | |
15 | g.48520706G>A | CA392347328 | FBN1 | c.1100C>T (p.Ser367Phe) c.636+17005C>T (n.636+17005C>T) | ClinVar dbSNP |
15 | g.48520706G>C | CA392347329 | FBN1 | c.1100C>G (p.Ser367Cys) c.636+17005C>G (n.636+17005C>G) | |
15 | g.48520706G= | CA2175537480 | FBN1 | c.1100C= (p.Ser367=) c.636+17005C= (n.636+17005C=) | |
15 | g.48520706G>T | CA392347332 | FBN1 | c.1100C>A (p.Ser367Tyr) c.636+17005C>A (n.636+17005C>A) | |
15 | g.48520707A= | CA2175537484 | FBN1 | c.1099T= (p.Ser367=) c.636+17004T= (n.636+17004T=) | |
15 | g.48520707A>C | CA392347337 | FBN1 | c.1099T>G (p.Ser367Ala) c.636+17004T>G (n.636+17004T>G) | |
15 | g.48520707A>G | CA392347340 | FBN1 | c.1099T>C (p.Ser367Pro) c.636+17004T>C (n.636+17004T>C) | ClinVar dbSNP |
15 | g.48520707A>T | CA392347346 | FBN1 | c.1099T>A (p.Ser367Thr) c.636+17004T>A (n.636+17004T>A) | |
15 | g.48520708C>A | CA392347350 | FBN1 | c.1098G>T (p.Trp366Cys) c.636+17003G>T (n.636+17003G>T) | ClinVar dbSNP |
15 | g.48520708C= | CA2175537493 | FBN1 | c.1098G= (p.Trp366=) c.636+17003G= (n.636+17003G=) | |
15 | g.48520708C>G | CA392347353 | FBN1 | c.1098G>C (p.Trp366Cys) c.636+17003G>C (n.636+17003G>C) | ClinVar dbSNP |
15 | g.48520708C>T | CA392347355 | FBN1 | c.1098G>A (p.Trp366Ter) c.636+17003G>A (n.636+17003G>A) |