OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48516130_48516131delinsAT | CA2175533339 | FBN1 | c.1327+52_1327+53delinsAT (n.1327+52_1327+53delinsAT) c.636+21580_636+21581delinsAT (n.636+21580_636+21581delinsAT) | |
| 15 | g.48516131del | CA713421138 | FBN1 | c.1327+52del (n.1327+52del) c.636+21580del (n.636+21580del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48516131T>A | CA2575717504 | FBN1 | c.1327+52A>T (n.1327+52A>T) c.636+21580A>T (n.636+21580A>T) | gnomAD v4 |
| 15 | g.48516131T>C | CA269559616 | FBN1 | c.1327+52A>G (n.1327+52A>G) c.636+21580A>G (n.636+21580A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48516131T= | CA2175533342 | FBN1 | c.1327+52A= (n.1327+52A=) c.636+21580A= (n.636+21580A=) | |
| 15 | g.48516134T>A | CA969566596 | FBN1 | c.1327+49A>T (n.1327+49A>T) c.636+21577A>T (n.636+21577A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48516134T= | CA2175533345 | FBN1 | c.1327+49A= (n.1327+49A=) c.636+21577A= (n.636+21577A=) | |
| 15 | g.48516136del | CA2628336488 | FBN1 | c.1327+48del (n.1327+48del) c.636+21576del (n.636+21576del) | gnomAD v4 |
| 15 | g.48516137C= | CA2175533347 | FBN1 | c.1327+46G= (n.1327+46G=) c.636+21574G= (n.636+21574G=) | |
| 15 | g.48516137C>T | CA269559621 | FBN1 | c.1327+46G>A (n.1327+46G>A) c.636+21574G>A (n.636+21574G>A) | dbSNP gnomAD v4 |
| 15 | g.48516138T>C | CA044336 | FBN1 | c.1327+45A>G (n.1327+45A>G) c.636+21573A>G (n.636+21573A>G) | dbSNP ExAC gnomAD v2 |
| 15 | g.48516138T>G | CA618009346 | FBN1 | c.1327+45A>C (n.1327+45A>C) c.636+21573A>C (n.636+21573A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516138T= | CA2175533352 | FBN1 | c.1327+45A= (n.1327+45A=) c.636+21573A= (n.636+21573A=) | |
| 15 | g.48516139T>C | CA2175533357 | FBN1 | c.1327+44A>G (n.1327+44A>G) c.636+21572A>G (n.636+21572A>G) | dbSNP gnomAD v4 |
| 15 | g.48516139T>G | CA044323 | FBN1 | c.1327+44A>C (n.1327+44A>C) c.636+21572A>C (n.636+21572A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48516139T= | CA2175533355 | FBN1 | c.1327+44A= (n.1327+44A=) c.636+21572A= (n.636+21572A=) | |
| 15 | g.48516140G>A | CA2575717505 | FBN1 | c.1327+43C>T (n.1327+43C>T) c.636+21571C>T (n.636+21571C>T) | gnomAD v4 |
| 15 | g.48516140G>C | CA2628336489 | FBN1 | c.1327+43C>G (n.1327+43C>G) c.636+21571C>G (n.636+21571C>G) | gnomAD v4 |
| 15 | g.48516140G>T | CA2628336490 | FBN1 | c.1327+43C>A (n.1327+43C>A) c.636+21571C>A (n.636+21571C>A) | gnomAD v4 |
| 15 | g.48516142A>G | CA2628336491 | FBN1 | c.1327+41T>C (n.1327+41T>C) c.636+21569T>C (n.636+21569T>C) | gnomAD v4 |
| 15 | g.48516145A= | CA2175533359 | FBN1 | c.1327+38T= (n.1327+38T=) c.636+21566T= (n.636+21566T=) | |
| 15 | g.48516145A>C | CA618009347 | FBN1 | c.1327+38T>G (n.1327+38T>G) c.636+21566T>G (n.636+21566T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48516145A>G | CA2628336492 | FBN1 | c.1327+38T>C (n.1327+38T>C) c.636+21566T>C (n.636+21566T>C) | gnomAD v4 |
| 15 | g.48516146T>C | CA713421141 | FBN1 | c.1327+37A>G (n.1327+37A>G) c.636+21565A>G (n.636+21565A>G) | dbSNP gnomAD v4 |
| 15 | g.48516146T= | CA2175533360 | FBN1 | c.1327+37A= (n.1327+37A=) c.636+21565A= (n.636+21565A=) | |
| 15 | g.48516147G>T | CA2628336493 | FBN1 | c.1327+36C>A (n.1327+36C>A) c.636+21564C>A (n.636+21564C>A) | gnomAD v4 |
| 15 | g.48516148C>A | CA044309 | FBN1 | c.1327+35G>T (n.1327+35G>T) c.636+21563G>T (n.636+21563G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516148C= | CA2175533362 | FBN1 | c.1327+35G= (n.1327+35G=) c.636+21563G= (n.636+21563G=) | |
| 15 | g.48516148C>T | CA618009348 | FBN1 | c.1327+35G>A (n.1327+35G>A) c.636+21563G>A (n.636+21563G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48516151G>A | CA2804072874 | FBN1 | c.1327+32C>T (n.1327+32C>T) c.636+21560C>T (n.636+21560C>T) | |
| 15 | g.48516151G>T | CA2575717506 | FBN1 | c.1327+32C>A (n.1327+32C>A) c.636+21560C>A (n.636+21560C>A) | |
| 15 | g.48516151_48516152delinsGA | CA2175533363 | FBN1 | c.1327+31_1327+32delinsTC (n.1327+31_1327+32delinsTC) c.636+21559_636+21560delinsTC (n.636+21559_636+21560delinsTC) | |
| 15 | g.48516156del | CA044297 | FBN1 | c.1327+31del (n.1327+31del) c.636+21559del (n.636+21559del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516153A= | CA2175533366 | FBN1 | c.1327+30T= (n.1327+30T=) c.636+21558T= (n.636+21558T=) | |
| 15 | g.48516153A>C | CA969566600 | FBN1 | c.1327+30T>G (n.1327+30T>G) c.636+21558T>G (n.636+21558T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48516158A= | CA2175533368 | FBN1 | c.1327+25T= (n.1327+25T=) c.636+21553T= (n.636+21553T=) | |
| 15 | g.48516158A>T | CA969566601 | FBN1 | c.1327+25T>A (n.1327+25T>A) c.636+21553T>A (n.636+21553T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48516160C>A | CA2628336494 | FBN1 | c.1327+23G>T (n.1327+23G>T) c.636+21551G>T (n.636+21551G>T) | gnomAD v4 |
| 15 | g.48516161T>C | CA618009349 | FBN1 | c.1327+22A>G (n.1327+22A>G) c.636+21550A>G (n.636+21550A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516161T= | CA2175533369 | FBN1 | c.1327+22A= (n.1327+22A=) c.636+21550A= (n.636+21550A=) | |
| 15 | g.48516162A>G | CA2628336495 | FBN1 | c.1327+21T>C (n.1327+21T>C) c.636+21549T>C (n.636+21549T>C) | gnomAD v4 |
| 15 | g.48516163G>C | CA618009350 | FBN1 | c.1327+20C>G (n.1327+20C>G) c.636+21548C>G (n.636+21548C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516163G= | CA2175533370 | FBN1 | c.1327+20C= (n.1327+20C=) c.636+21548C= (n.636+21548C=) | |
| 15 | g.48516163G>T | CA2628336496 | FBN1 | c.1327+20C>A (n.1327+20C>A) c.636+21548C>A (n.636+21548C>A) | gnomAD v4 |
| 15 | g.48516165T>A | CA2628336497 | FBN1 | c.1327+18A>T (n.1327+18A>T) c.636+21546A>T (n.636+21546A>T) | gnomAD v4 |
| 15 | g.48516165T>C | CA618009351 | FBN1 | c.1327+18A>G (n.1327+18A>G) c.636+21546A>G (n.636+21546A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48516165T= | CA2175533372 | FBN1 | c.1327+18A= (n.1327+18A=) c.636+21546A= (n.636+21546A=) | |
| 15 | g.48516167A>G | CA2628336498 | FBN1 | c.1327+16T>C (n.1327+16T>C) c.636+21544T>C (n.636+21544T>C) | gnomAD v4 |
| 15 | g.48516168T>C | CA2628336499 | FBN1 | c.1327+15A>G (n.1327+15A>G) c.636+21543A>G (n.636+21543A>G) | gnomAD v4 |
| 15 | g.48516169T>A | CA16606979 | FBN1 | c.1327+14A>T (n.1327+14A>T) c.636+21542A>T (n.636+21542A>T) | ClinVar dbSNP |
| 15 | g.48516169T>C | CA2628336500 | FBN1 | c.1327+14A>G (n.1327+14A>G) c.636+21542A>G (n.636+21542A>G) | gnomAD v4 |
| 15 | g.48516169T= | CA2175533373 | FBN1 | c.1327+14A= (n.1327+14A=) c.636+21542A= (n.636+21542A=) | |
| 15 | g.48516171T>C | CA044293 | FBN1 | c.1327+12A>G (n.1327+12A>G) c.636+21540A>G (n.636+21540A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516171T>G | CA2804072875 | FBN1 | c.1327+12A>C (n.1327+12A>C) c.636+21540A>C (n.636+21540A>C) | |
| 15 | g.48516171T= | CA2175533375 | FBN1 | c.1327+12A= (n.1327+12A=) c.636+21540A= (n.636+21540A=) | |
| 15 | g.48516174A= | CA2175533377 | FBN1 | c.1327+9T= (n.1327+9T=) c.636+21537T= (n.636+21537T=) | |
| 15 | g.48516174A>C | CA2175533378 | FBN1 | c.1327+9T>G (n.1327+9T>G) c.636+21537T>G (n.636+21537T>G) | dbSNP gnomAD v4 |
| 15 | g.48516176T>C | CA044354 | FBN1 | c.1327+7A>G (n.1327+7A>G) c.636+21535A>G (n.636+21535A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516176T>G | CA044346 | FBN1 | c.1327+7A>C (n.1327+7A>C) c.636+21535A>C (n.636+21535A>C) | dbSNP ExAC gnomAD v2 |
| 15 | g.48516176T= | CA2175533382 | FBN1 | c.1327+7A= (n.1327+7A=) c.636+21535A= (n.636+21535A=) | |
| 15 | g.48516177T>C | CA2628336501 | FBN1 | c.1327+6A>G (n.1327+6A>G) c.636+21534A>G (n.636+21534A>G) | gnomAD v4 |
| 15 | g.48516181A>C | CA392345063 | FBN1 | c.1327+2T>G (n.1327+2T>G) c.636+21530T>G (n.636+21530T>G) | |
| 15 | g.48516181A>G | CA392345065 | FBN1 | c.1327+2T>C (n.1327+2T>C) c.636+21530T>C (n.636+21530T>C) | |
| 15 | g.48516181A>T | CA392345070 | FBN1 | c.1327+2T>A (n.1327+2T>A) c.636+21530T>A (n.636+21530T>A) | |
| 15 | g.48516182C>A | CA392345075 | FBN1 | c.1327+1G>T (n.1327+1G>T) c.636+21529G>T (n.636+21529G>T) | |
| 15 | g.48516182C>G | CA392345080 | FBN1 | c.1327+1G>C (n.1327+1G>C) c.636+21529G>C (n.636+21529G>C) | |
| 15 | g.48516182C>T | CA392345085 | FBN1 | c.1327+1G>A (n.1327+1G>A) c.636+21529G>A (n.636+21529G>A) | |
| 15 | g.48516183T>A | CA392345092 | FBN1 | c.1327A>T (p.Arg443Trp) c.636+21528A>T (n.636+21528A>T) | |
| 15 | g.48516183T>C | CA392345110 | FBN1 | c.1327A>G (p.Arg443Gly) c.636+21528A>G (n.636+21528A>G) | |
| 15 | g.48516183T>G | CA490028318 | FBN1 | c.1327A>C (p.Arg443=) c.636+21528A>C (n.636+21528A>C) | |
| 15 | g.48516184T>A | CA490028319 | FBN1 | c.1326A>T (p.Pro442=) c.636+21527A>T (n.636+21527A>T) | |
| 15 | g.48516184T>C | CA490028321 | FBN1 | c.1326A>G (p.Pro442=) c.636+21527A>G (n.636+21527A>G) | |
| 15 | g.48516184T>G | CA490028320 | FBN1 | c.1326A>C (p.Pro442=) c.636+21527A>C (n.636+21527A>C) | |
| 15 | g.48516187_48516189del | CA2628336502 | FBN1 | c.1324_1326del (p.Pro442del) c.636+21525_636+21527del (n.636+21525_636+21527del) | gnomAD v4 |
| 15 | g.48516185G>A | CA392345115 | FBN1 | c.1325C>T (p.Pro442Leu) c.636+21526C>T (n.636+21526C>T) | |
| 15 | g.48516185G>C | CA392345118 | FBN1 | c.1325C>G (p.Pro442Arg) c.636+21526C>G (n.636+21526C>G) | |
| 15 | g.48516185G>T | CA392345113 | FBN1 | c.1325C>A (p.Pro442Gln) c.636+21526C>A (n.636+21526C>A) | |
| 15 | g.48516186G>A | CA044287 | FBN1 | c.1324C>T (p.Pro442Ser) c.636+21525C>T (n.636+21525C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516186G>C | CA392345119 | FBN1 | c.1324C>G (p.Pro442Ala) c.636+21525C>G (n.636+21525C>G) | |
| 15 | g.48516186G= | CA2175533385 | FBN1 | c.1324C= (p.Pro442=) c.636+21525C= (n.636+21525C=) | |
| 15 | g.48516186G>T | CA392345120 | FBN1 | c.1324C>A (p.Pro442Thr) c.636+21525C>A (n.636+21525C>A) | |
| 15 | g.48516187T>A | CA490028322 | FBN1 | c.1323A>T (p.Pro441=) c.636+21524A>T (n.636+21524A>T) | |
| 15 | g.48516187T>C | CA044269 | FBN1 | c.1323A>G (p.Pro441=) c.636+21524A>G (n.636+21524A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516187T>G | CA490028323 | FBN1 | c.1323A>C (p.Pro441=) c.636+21524A>C (n.636+21524A>C) | |
| 15 | g.48516187T= | CA2175533391 | FBN1 | c.1323A= (p.Pro441=) c.636+21524A= (n.636+21524A=) | |
| 15 | g.48516188G>A | CA392345125 | FBN1 | c.1322C>T (p.Pro441Leu) c.636+21523C>T (n.636+21523C>T) | ClinVar gnomAD v4 |
| 15 | g.48516188G>C | CA392345129 | FBN1 | c.1322C>G (p.Pro441Arg) c.636+21523C>G (n.636+21523C>G) | |
| 15 | g.48516188G>T | CA392345130 | FBN1 | c.1322C>A (p.Pro441Gln) c.636+21523C>A (n.636+21523C>A) | gnomAD v4 |
| 15 | g.48516189G>A | CA392345133 | FBN1 | c.1321C>T (p.Pro441Ser) c.636+21522C>T (n.636+21522C>T) | |
| 15 | g.48516189G>C | CA269559674 | FBN1 | c.1321C>G (p.Pro441Ala) c.636+21522C>G (n.636+21522C>G) | dbSNP |
| 15 | g.48516189G= | CA2175533395 | FBN1 | c.1321C= (p.Pro441=) c.636+21522C= (n.636+21522C=) | |
| 15 | g.48516189G>T | CA392345131 | FBN1 | c.1321C>A (p.Pro441Thr) c.636+21522C>A (n.636+21522C>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48516190C>A | CA392345145 | FBN1 | c.1320G>T (p.Glu440Asp) c.636+21521G>T (n.636+21521G>T) | |
| 15 | g.48516190C>G | CA392345148 | FBN1 | c.1320G>C (p.Glu440Asp) c.636+21521G>C (n.636+21521G>C) | |
| 15 | g.48516190C>T | CA490028324 | FBN1 | c.1320G>A (p.Glu440=) c.636+21521G>A (n.636+21521G>A) | |
| 15 | g.48516191T>A | CA392345153 | FBN1 | c.1319A>T (p.Glu440Val) c.636+21520A>T (n.636+21520A>T) | |
| 15 | g.48516191T>C | CA392345164 | FBN1 | c.1319A>G (p.Glu440Gly) c.636+21520A>G (n.636+21520A>G) | COSMIC |
| 15 | g.48516191T>G | CA392345166 | FBN1 | c.1319A>C (p.Glu440Ala) c.636+21520A>C (n.636+21520A>C) | |
| 15 | g.48516192C>A | CA392345170 | FBN1 | c.1318G>T (p.Glu440Ter) c.636+21519G>T (n.636+21519G>T) | ClinVar dbSNP |
| 15 | g.48516192C= | CA2175533400 | FBN1 | c.1318G= (p.Glu440=) c.636+21519G= (n.636+21519G=) | |
| 15 | g.48516192C>G | CA392345177 | FBN1 | c.1318G>C (p.Glu440Gln) c.636+21519G>C (n.636+21519G>C) | |
| 15 | g.48516192C>T | CA392345172 | FBN1 | c.1318G>A (p.Glu440Lys) c.636+21519G>A (n.636+21519G>A) | |
| 15 | g.48516193C>A | CA490028325 | FBN1 | c.1317G>T (p.Arg439=) c.636+21518G>T (n.636+21518G>T) | |
| 15 | g.48516193C= | CA2175533406 | FBN1 | c.1317G= (p.Arg439=) c.636+21518G= (n.636+21518G=) | |
| 15 | g.48516193C>G | CA490028326 | FBN1 | c.1317G>C (p.Arg439=) c.636+21518G>C (n.636+21518G>C) | |
| 15 | g.48516193C>T | CA490028327 | FBN1 | c.1317G>A (p.Arg439=) c.636+21518G>A (n.636+21518G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48516194C>A | CA392345181 | FBN1 | c.1316G>T (p.Arg439Leu) c.636+21517G>T (n.636+21517G>T) | |
| 15 | g.48516194C= | CA2175533411 | FBN1 | c.1316G= (p.Arg439=) c.636+21517G= (n.636+21517G=) | |
| 15 | g.48516194C>G | CA392345190 | FBN1 | c.1316G>C (p.Arg439Pro) c.636+21517G>C (n.636+21517G>C) | |
| 15 | g.48516194C>T | CA044257 | FBN1 | c.1316G>A (p.Arg439Gln) c.636+21517G>A (n.636+21517G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516195G>A | CA392345194 | FBN1 | c.1315C>T (p.Arg439Trp) c.636+21516C>T (n.636+21516C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48516195G>C | CA392345195 | FBN1 | c.1315C>G (p.Arg439Gly) c.636+21516C>G (n.636+21516C>G) | |
| 15 | g.48516195G= | CA2175533413 | FBN1 | c.1315C= (p.Arg439=) c.636+21516C= (n.636+21516C=) | |
| 15 | g.48516195G>T | CA490028328 | FBN1 | c.1315C>A (p.Arg439=) c.636+21516C>A (n.636+21516C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516196A>C | CA490028329 | FBN1 | c.1314T>G (p.Ser438=) c.636+21515T>G (n.636+21515T>G) | |
| 15 | g.48516196A>G | CA490028330 | FBN1 | c.1314T>C (p.Ser438=) c.636+21515T>C (n.636+21515T>C) | gnomAD v4 |
| 15 | g.48516196A>T | CA490028331 | FBN1 | c.1314T>A (p.Ser438=) c.636+21515T>A (n.636+21515T>A) | |
| 15 | g.48516197G>A | CA392345200 | FBN1 | c.1313C>T (p.Ser438Phe) c.636+21514C>T (n.636+21514C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48516197G>C | CA392345203 | FBN1 | c.1313C>G (p.Ser438Cys) c.636+21514C>G (n.636+21514C>G) | ClinVar dbSNP |
| 15 | g.48516197G= | CA2175533416 | FBN1 | c.1313C= (p.Ser438=) c.636+21514C= (n.636+21514C=) | |
| 15 | g.48516197G>T | CA392345207 | FBN1 | c.1313C>A (p.Ser438Tyr) c.636+21514C>A (n.636+21514C>A) | |
| 15 | g.48516198A>C | CA392345216 | FBN1 | c.1312T>G (p.Ser438Ala) c.636+21513T>G (n.636+21513T>G) | |
| 15 | g.48516198A>G | CA392345225 | FBN1 | c.1312T>C (p.Ser438Pro) c.636+21513T>C (n.636+21513T>C) | |
| 15 | g.48516198A>T | CA392345228 | FBN1 | c.1312T>A (p.Ser438Thr) c.636+21513T>A (n.636+21513T>A) | |
| 15 | g.48516199T>A | CA490028332 | FBN1 | c.1311A>T (p.Pro437=) c.636+21512A>T (n.636+21512A>T) | |
| 15 | g.48516199T>C | CA490028333 | FBN1 | c.1311A>G (p.Pro437=) c.636+21512A>G (n.636+21512A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516199T>G | CA490028334 | FBN1 | c.1311A>C (p.Pro437=) c.636+21512A>C (n.636+21512A>C) | |
| 15 | g.48516199T= | CA2175533419 | FBN1 | c.1311A= (p.Pro437=) c.636+21512A= (n.636+21512A=) | |
| 15 | g.48516200G>A | CA392345243 | FBN1 | c.1310C>T (p.Pro437Leu) c.636+21511C>T (n.636+21511C>T) | |
| 15 | g.48516200G>C | CA392345242 | FBN1 | c.1310C>G (p.Pro437Arg) c.636+21511C>G (n.636+21511C>G) | |
| 15 | g.48516200G>T | CA392345233 | FBN1 | c.1310C>A (p.Pro437Gln) c.636+21511C>A (n.636+21511C>A) | |
| 15 | g.48516201del | CA2695220397 | FBN1 | c.1310del (p.Pro437HisfsTer11) c.636+21511del (n.636+21511del) | |
| 15 | g.48516201G>A | CA392345244 | FBN1 | c.1309C>T (p.Pro437Ser) c.636+21510C>T (n.636+21510C>T) | |
| 15 | g.48516201G>C | CA392345247 | FBN1 | c.1309C>G (p.Pro437Ala) c.636+21510C>G (n.636+21510C>G) | gnomAD v4 |
| 15 | g.48516201G>T | CA392345253 | FBN1 | c.1309C>A (p.Pro437Thr) c.636+21510C>A (n.636+21510C>A) | |
| 15 | g.48516202A>C | CA392345257 | FBN1 | c.1308T>G (p.Tyr436Ter) c.636+21509T>G (n.636+21509T>G) | |
| 15 | g.48516202A>G | CA490028335 | FBN1 | c.1308T>C (p.Tyr436=) c.636+21509T>C (n.636+21509T>C) | gnomAD v4 |
| 15 | g.48516202A>T | CA392345258 | FBN1 | c.1308T>A (p.Tyr436Ter) c.636+21509T>A (n.636+21509T>A) | |
| 15 | g.48516203T>A | CA044249 | FBN1 | c.1307A>T (p.Tyr436Phe) c.636+21508A>T (n.636+21508A>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48516203T>C | CA392345262 | FBN1 | c.1307A>G (p.Tyr436Cys) c.636+21508A>G (n.636+21508A>G) | |
| 15 | g.48516203T>G | CA392345266 | FBN1 | c.1307A>C (p.Tyr436Ser) c.636+21508A>C (n.636+21508A>C) | |
| 15 | g.48516203T= | CA2175533422 | FBN1 | c.1307A= (p.Tyr436=) c.636+21508A= (n.636+21508A=) | |
| 15 | g.48516204A>C | CA392345269 | FBN1 | c.1306T>G (p.Tyr436Asp) c.636+21507T>G (n.636+21507T>G) | |
| 15 | g.48516204A>G | CA392345273 | FBN1 | c.1306T>C (p.Tyr436His) c.636+21507T>C (n.636+21507T>C) | |
| 15 | g.48516204A>T | CA392345275 | FBN1 | c.1306T>A (p.Tyr436Asn) c.636+21507T>A (n.636+21507T>A) | |
| 15 | g.48516205C>A | CA490028337 | FBN1 | c.1305G>T (p.Leu435=) c.636+21506G>T (n.636+21506G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48516205C= | CA2175533425 | FBN1 | c.1305G= (p.Leu435=) c.636+21506G= (n.636+21506G=) | |
| 15 | g.48516205C>G | CA490028336 | FBN1 | c.1305G>C (p.Leu435=) c.636+21506G>C (n.636+21506G>C) | |
| 15 | g.48516205C>T | CA044236 | FBN1 | c.1305G>A (p.Leu435=) c.636+21506G>A (n.636+21506G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48516206A>C | CA392345283 | FBN1 | c.1304T>G (p.Leu435Arg) c.636+21505T>G (n.636+21505T>G) | |
| 15 | g.48516206A>G | CA392345285 | FBN1 | c.1304T>C (p.Leu435Pro) c.636+21505T>C (n.636+21505T>C) | ClinVar |
| 15 | g.48516206A>T | CA392345280 | FBN1 | c.1304T>A (p.Leu435Gln) c.636+21505T>A (n.636+21505T>A) | |
| 15 | g.48516207G>A | CA490028338 | FBN1 | c.1303C>T (p.Leu435=) c.636+21504C>T (n.636+21504C>T) | |
| 15 | g.48516207G>C | CA392345286 | FBN1 | c.1303C>G (p.Leu435Val) c.636+21504C>G (n.636+21504C>G) | |
| 15 | g.48516207G>T | CA392345287 | FBN1 | c.1303C>A (p.Leu435Met) c.636+21504C>A (n.636+21504C>A) | |
| 15 | g.48516208A= | CA2175533430 | FBN1 | c.1302T= (p.Tyr434=) c.636+21503T= (n.636+21503T=) | |
| 15 | g.48516208A>C | CA392345292 | FBN1 | c.1302T>G (p.Tyr434Ter) c.636+21503T>G (n.636+21503T>G) | |
| 15 | g.48516208A>G | CA490028339 | FBN1 | c.1302T>C (p.Tyr434=) c.636+21503T>C (n.636+21503T>C) | |
| 15 | g.48516208A>T | CA392345297 | FBN1 | c.1302T>A (p.Tyr434Ter) c.636+21503T>A (n.636+21503T>A) | ClinVar dbSNP |
| 15 | g.48516210_48516211del | CA2695220398 | FBN1 | c.1301_1302del (p.Tyr434SerfsTer17) c.636+21502_636+21503del (n.636+21502_636+21503del) | |
| 15 | g.48516209T>A | CA392345310 | FBN1 | c.1301A>T (p.Tyr434Phe) c.636+21502A>T (n.636+21502A>T) | |
| 15 | g.48516209T>C | CA392345305 | FBN1 | c.1301A>G (p.Tyr434Cys) c.636+21502A>G (n.636+21502A>G) | gnomAD v4 |
| 15 | g.48516209T>G | CA392345302 | FBN1 | c.1301A>C (p.Tyr434Ser) c.636+21502A>C (n.636+21502A>C) | |
| 15 | g.48516209T= | CA2175533434 | FBN1 | c.1301A= (p.Tyr434=) c.636+21502A= (n.636+21502A=) | |
| 15 | g.48516210A>C | CA392345337 | FBN1 | c.1300T>G (p.Tyr434Asp) c.636+21501T>G (n.636+21501T>G) | |
| 15 | g.48516210A>G | CA392345342 | FBN1 | c.1300T>C (p.Tyr434His) c.636+21501T>C (n.636+21501T>C) | |
| 15 | g.48516210A>T | CA392345347 | FBN1 | c.1300T>A (p.Tyr434Asn) c.636+21501T>A (n.636+21501T>A) | |
| 15 | g.48516210_48516213dup | CA304408 | FBN1 | c.1297_1300dup (p.Tyr434Ter) c.636+21498_636+21501dup (n.636+21498_636+21501dup) | ClinVar dbSNP |
| 15 | g.48516211T>A | CA392345367 | FBN1 | c.1299A>T (p.Glu433Asp) c.636+21500A>T (n.636+21500A>T) | |
| 15 | g.48516211T>C | CA490028340 | FBN1 | c.1299A>G (p.Glu433=) c.636+21500A>G (n.636+21500A>G) | |
| 15 | g.48516211T>G | CA392345370 | FBN1 | c.1299A>C (p.Glu433Asp) c.636+21500A>C (n.636+21500A>C) | |
| 15 | g.48516212dup | CA2573150839 | FBN1 | c.1299dup (p.Tyr434IlefsTer18) c.636+21500dup (n.636+21500dup) | ClinVar dbSNP |
| 15 | g.48516212T>A | CA392345387 | FBN1 | c.1298A>T (p.Glu433Val) c.636+21499A>T (n.636+21499A>T) | |
| 15 | g.48516212T>C | CA392345389 | FBN1 | c.1298A>G (p.Glu433Gly) c.636+21499A>G (n.636+21499A>G) | |
| 15 | g.48516212T>G | CA392345376 | FBN1 | c.1298A>C (p.Glu433Ala) c.636+21499A>C (n.636+21499A>C) | |
| 15 | g.48516213C>A | CA392345400 | FBN1 | c.1297G>T (p.Glu433Ter) c.636+21498G>T (n.636+21498G>T) | ClinVar dbSNP |
| 15 | g.48516213C>G | CA392345398 | FBN1 | c.1297G>C (p.Glu433Gln) c.636+21498G>C (n.636+21498G>C) | |
| 15 | g.48516213C>T | CA392345405 | FBN1 | c.1297G>A (p.Glu433Lys) c.636+21498G>A (n.636+21498G>A) | gnomAD v4 |
| 15 | g.48516214C>A | CA044222 | FBN1 | c.1296G>T (p.Val432=) c.636+21497G>T (n.636+21497G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48516214C= | CA2175533441 | FBN1 | c.1296G= (p.Val432=) c.636+21497G= (n.636+21497G=) | |
| 15 | g.48516214C>G | CA490028341 | FBN1 | c.1296G>C (p.Val432=) c.636+21497G>C (n.636+21497G>C) | |
| 15 | g.48516214C>T | CA490028342 | FBN1 | c.1296G>A (p.Val432=) c.636+21497G>A (n.636+21497G>A) | dbSNP gnomAD v4 |
| 15 | g.48516215A>C | CA392345414 | FBN1 | c.1295T>G (p.Val432Gly) c.636+21496T>G (n.636+21496T>G) | |
| 15 | g.48516215A>G | CA392345418 | FBN1 | c.1295T>C (p.Val432Ala) c.636+21496T>C (n.636+21496T>C) | |
| 15 | g.48516215A>T | CA392345419 | FBN1 | c.1295T>A (p.Val432Glu) c.636+21496T>A (n.636+21496T>A) | |
| 15 | g.48516216C>A | CA392345421 | FBN1 | c.1294G>T (p.Val432Leu) c.636+21495G>T (n.636+21495G>T) | |
| 15 | g.48516216C>G | CA392345423 | FBN1 | c.1294G>C (p.Val432Leu) c.636+21495G>C (n.636+21495G>C) | |
| 15 | g.48516216C>T | CA392345425 | FBN1 | c.1294G>A (p.Val432Met) c.636+21495G>A (n.636+21495G>A) | |
| 15 | g.48516217T>A | CA490028343 | FBN1 | c.1293A>T (p.Pro431=) c.636+21494A>T (n.636+21494A>T) | |
| 15 | g.48516217T>C | CA490028344 | FBN1 | c.1293A>G (p.Pro431=) c.636+21494A>G (n.636+21494A>G) | |
| 15 | g.48516217T>G | CA490028345 | FBN1 | c.1293A>C (p.Pro431=) c.636+21494A>C (n.636+21494A>C) | |
| 15 | g.48516218G>A | CA392345427 | FBN1 | c.1292C>T (p.Pro431Leu) c.636+21493C>T (n.636+21493C>T) | ClinVar dbSNP |
| 15 | g.48516218G>C | CA392345431 | FBN1 | c.1292C>G (p.Pro431Arg) c.636+21493C>G (n.636+21493C>G) | |
| 15 | g.48516218G>T | CA392345429 | FBN1 | c.1292C>A (p.Pro431Gln) c.636+21493C>A (n.636+21493C>A) | gnomAD v4 |
| 15 | g.48516219G>A | CA392345434 | FBN1 | c.1291C>T (p.Pro431Ser) c.636+21492C>T (n.636+21492C>T) | gnomAD v4 |
| 15 | g.48516219G>C | CA392345436 | FBN1 | c.1291C>G (p.Pro431Ala) c.636+21492C>G (n.636+21492C>G) | |
| 15 | g.48516219G>T | CA392345439 | FBN1 | c.1291C>A (p.Pro431Thr) c.636+21492C>A (n.636+21492C>A) | |
| 15 | g.48516220T>A | CA490028346 | FBN1 | c.1290A>T (p.Pro430=) c.636+21491A>T (n.636+21491A>T) | |
| 15 | g.48516220T>C | CA044212 | FBN1 | c.1290A>G (p.Pro430=) c.636+21491A>G (n.636+21491A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48516220T>G | CA490028347 | FBN1 | c.1290A>C (p.Pro430=) c.636+21491A>C (n.636+21491A>C) | |
| 15 | g.48516220T= | CA2175533446 | FBN1 | c.1290A= (p.Pro430=) c.636+21491A= (n.636+21491A=) | |
| 15 | g.48516221G>A | CA044189 | FBN1 | c.1289C>T (p.Pro430Leu) c.636+21490C>T (n.636+21490C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516221G>C | CA392345446 | FBN1 | c.1289C>G (p.Pro430Arg) c.636+21490C>G (n.636+21490C>G) | |
| 15 | g.48516221G= | CA2175533450 | FBN1 | c.1289C= (p.Pro430=) c.636+21490C= (n.636+21490C=) | |
| 15 | g.48516221G>T | CA392345444 | FBN1 | c.1289C>A (p.Pro430Gln) c.636+21490C>A (n.636+21490C>A) | |
| 15 | g.48516222G>A | CA392345449 | FBN1 | c.1288C>T (p.Pro430Ser) c.636+21489C>T (n.636+21489C>T) | |
| 15 | g.48516222G>C | CA392345451 | FBN1 | c.1288C>G (p.Pro430Ala) c.636+21489C>G (n.636+21489C>G) | |
| 15 | g.48516222G= | CA2175533455 | FBN1 | c.1288C= (p.Pro430=) c.636+21489C= (n.636+21489C=) | |
| 15 | g.48516222G>T | CA392345453 | FBN1 | c.1288C>A (p.Pro430Thr) c.636+21489C>A (n.636+21489C>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48516223T>A | CA490028348 | FBN1 | c.1287A>T (p.Arg429=) c.636+21488A>T (n.636+21488A>T) | |
| 15 | g.48516223T>C | CA490028349 | FBN1 | c.1287A>G (p.Arg429=) c.636+21488A>G (n.636+21488A>G) | gnomAD v4 |
| 15 | g.48516223T>G | CA490028350 | FBN1 | c.1287A>C (p.Arg429=) c.636+21488A>C (n.636+21488A>C) | dbSNP |
| 15 | g.48516223T= | CA2175533461 | FBN1 | c.1287A= (p.Arg429=) c.636+21488A= (n.636+21488A=) | |
| 15 | g.48516223dup | CA658656495 | FBN1 | c.1287dup (p.Pro430ThrfsTer22) c.636+21488dup (n.636+21488dup) | ClinVar dbSNP |
| 15 | g.48516224C>A | CA392345455 | FBN1 | c.1286G>T (p.Arg429Leu) c.636+21487G>T (n.636+21487G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516224C= | CA2175533463 | FBN1 | c.1286G= (p.Arg429=) c.636+21487G= (n.636+21487G=) | |
| 15 | g.48516224C>G | CA392345457 | FBN1 | c.1286G>C (p.Arg429Pro) c.636+21487G>C (n.636+21487G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48516224C>T | CA012066 | FBN1 | c.1286G>A (p.Arg429Gln) c.636+21487G>A (n.636+21487G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48516225G>A | CA012048 | FBN1 | c.1285C>T (p.Arg429Ter) c.636+21486C>T (n.636+21486C>T) | ClinVar dbSNP |
| 15 | g.48516225G>C | CA392345458 | FBN1 | c.1285C>G (p.Arg429Gly) c.636+21486C>G (n.636+21486C>G) | |
| 15 | g.48516225G= | CA2175533469 | FBN1 | c.1285C= (p.Arg429=) c.636+21486C= (n.636+21486C=) | |
| 15 | g.48516225G>T | CA490028351 | FBN1 | c.1285C>A (p.Arg429=) c.636+21486C>A (n.636+21486C>A) | |
| 15 | g.48516226A>C | CA490028352 | FBN1 | c.1284T>G (p.Pro428=) c.636+21485T>G (n.636+21485T>G) | |
| 15 | g.48516226A>G | CA490028354 | FBN1 | c.1284T>C (p.Pro428=) c.636+21485T>C (n.636+21485T>C) | |
| 15 | g.48516226A>T | CA490028353 | FBN1 | c.1284T>A (p.Pro428=) c.636+21485T>A (n.636+21485T>A) | |
| 15 | g.48516227G>A | CA392345460 | FBN1 | c.1283C>T (p.Pro428Leu) c.636+21484C>T (n.636+21484C>T) | gnomAD v4 |
| 15 | g.48516227G>C | CA392345461 | FBN1 | c.1283C>G (p.Pro428Arg) c.636+21484C>G (n.636+21484C>G) | ClinVar |
| 15 | g.48516227G>T | CA392345463 | FBN1 | c.1283C>A (p.Pro428His) c.636+21484C>A (n.636+21484C>A) | |
| 15 | g.48516228G>A | CA392345468 | FBN1 | c.1282C>T (p.Pro428Ser) c.636+21483C>T (n.636+21483C>T) | dbSNP COSMIC |
| 15 | g.48516228G>C | CA392345467 | FBN1 | c.1282C>G (p.Pro428Ala) c.636+21483C>G (n.636+21483C>G) | |
| 15 | g.48516228G= | CA2175533475 | FBN1 | c.1282C= (p.Pro428=) c.636+21483C= (n.636+21483C=) | |
| 15 | g.48516228G>T | CA16619975 | FBN1 | c.1282C>A (p.Pro428Thr) c.636+21483C>A (n.636+21483C>A) | ClinVar dbSNP |
| 15 | g.48516229G>A | CA490028355 | FBN1 | c.1281C>T (p.Val427=) c.636+21482C>T (n.636+21482C>T) | gnomAD v4 COSMIC |
| 15 | g.48516229G>C | CA044160 | FBN1 | c.1281C>G (p.Val427=) c.636+21482C>G (n.636+21482C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48516229G= | CA2175533481 | FBN1 | c.1281C= (p.Val427=) c.636+21482C= (n.636+21482C=) | |
| 15 | g.48516229G>T | CA490028356 | FBN1 | c.1281C>A (p.Val427=) c.636+21482C>A (n.636+21482C>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48516230A>C | CA392345471 | FBN1 | c.1280T>G (p.Val427Gly) c.636+21481T>G (n.636+21481T>G) | |
| 15 | g.48516230A>G | CA392345472 | FBN1 | c.1280T>C (p.Val427Ala) c.636+21481T>C (n.636+21481T>C) | |
| 15 | g.48516230A>T | CA392345473 | FBN1 | c.1280T>A (p.Val427Asp) c.636+21481T>A (n.636+21481T>A) | |
| 15 | g.48516231C>A | CA392345474 | FBN1 | c.1279G>T (p.Val427Phe) c.636+21480G>T (n.636+21480G>T) | gnomAD v4 |
| 15 | g.48516231C>G | CA392345475 | FBN1 | c.1279G>C (p.Val427Leu) c.636+21480G>C (n.636+21480G>C) | |
| 15 | g.48516231C>T | CA392345476 | FBN1 | c.1279G>A (p.Val427Ile) c.636+21480G>A (n.636+21480G>A) | COSMIC |