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.48534048_48534049del | CA2628337403 | FBN1 | c.862+33_862+34del (n.862+33_862+34del) c.636+3664_636+3665del (n.636+3664_636+3665del) | gnomAD v4 |
| 15 | g.48534048A= | CA2175536846 | FBN1 | c.862+32T= (n.862+32T=) c.636+3663T= (n.636+3663T=) | |
| 15 | g.48534048A>G | CA2175536847 | FBN1 | c.862+32T>C (n.862+32T>C) c.636+3663T>C (n.636+3663T>C) | dbSNP |
| 15 | g.48534048A>T | CA2628337406 | FBN1 | c.862+32T>A (n.862+32T>A) c.636+3663T>A (n.636+3663T>A) | gnomAD v4 |
| 15 | g.48534048_48534049delinsAC | CA2175536845 | FBN1 | c.862+31_862+32delinsGT (n.862+31_862+32delinsGT) c.636+3662_636+3663delinsGT (n.636+3662_636+3663delinsGT) | |
| 15 | g.48534049C>A | CA060248 | FBN1 | c.862+31G>T (n.862+31G>T) c.636+3662G>T (n.636+3662G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534049C= | CA2175536848 | FBN1 | c.862+31G= (n.862+31G=) c.636+3662G= (n.636+3662G=) | |
| 15 | g.48534049C>G | CA2175536849 | FBN1 | c.862+31G>C (n.862+31G>C) c.636+3662G>C (n.636+3662G>C) | dbSNP |
| 15 | g.48534049C>T | CA2575717680 | FBN1 | c.862+31G>A (n.862+31G>A) c.636+3662G>A (n.636+3662G>A) | |
| 15 | g.48534054dup | CA2628337407 | FBN1 | c.862+31dup (n.862+31dup) c.636+3662dup (n.636+3662dup) | gnomAD v4 |
| 15 | g.48534054del | CA060247 | FBN1 | c.862+31del (n.862+31del) c.636+3662del (n.636+3662del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.48534050C>A | CA2628337408 | FBN1 | c.862+30G>T (n.862+30G>T) c.636+3661G>T (n.636+3661G>T) | gnomAD v4 |
| 15 | g.48534050C= | CA2175536850 | FBN1 | c.862+30G= (n.862+30G=) c.636+3661G= (n.636+3661G=) | |
| 15 | g.48534050C>T | CA060244 | FBN1 | c.862+30G>A (n.862+30G>A) c.636+3661G>A (n.636+3661G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534052C>A | CA060236 | FBN1 | c.862+28G>T (n.862+28G>T) c.636+3659G>T (n.636+3659G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534052C= | CA2175536851 | FBN1 | c.862+28G= (n.862+28G=) c.636+3659G= (n.636+3659G=) | |
| 15 | g.48534052C>T | CA2628337409 | FBN1 | c.862+28G>A (n.862+28G>A) c.636+3659G>A (n.636+3659G>A) | dbSNP gnomAD v4 |
| 15 | g.48534053C>A | CA2628337410 | FBN1 | c.862+27G>T (n.862+27G>T) c.636+3658G>T (n.636+3658G>T) | gnomAD v4 |
| 15 | g.48534053C= | CA2175536852 | FBN1 | c.862+27G= (n.862+27G=) c.636+3658G= (n.636+3658G=) | |
| 15 | g.48534053C>G | CA617841875 | FBN1 | c.862+27G>C (n.862+27G>C) c.636+3658G>C (n.636+3658G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534055A>C | CA656136147 | FBN1 | c.862+25T>G (n.862+25T>G) c.636+3656T>G (n.636+3656T>G) | COSMIC |
| 15 | g.48534055A>T | CA2628337411 | FBN1 | c.862+25T>A (n.862+25T>A) c.636+3656T>A (n.636+3656T>A) | gnomAD v4 |
| 15 | g.48534056del | CA2804072001 | FBN1 | c.862+25del (n.862+25del) c.636+3656del (n.636+3656del) | |
| 15 | g.48534056A= | CA2175536853 | FBN1 | c.862+24T= (n.862+24T=) c.636+3655T= (n.636+3655T=) | |
| 15 | g.48534056A>G | CA060232 | FBN1 | c.862+24T>C (n.862+24T>C) c.636+3655T>C (n.636+3655T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534057C>A | CA060228 | FBN1 | c.862+23G>T (n.862+23G>T) c.636+3654G>T (n.636+3654G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534057C= | CA2175536854 | FBN1 | c.862+23G= (n.862+23G=) c.636+3654G= (n.636+3654G=) | |
| 15 | g.48534057C>T | CA2175536855 | FBN1 | c.862+23G>A (n.862+23G>A) c.636+3654G>A (n.636+3654G>A) | dbSNP |
| 15 | g.48534058T>A | CA2575717681 | FBN1 | c.862+22A>T (n.862+22A>T) c.636+3653A>T (n.636+3653A>T) | gnomAD v4 |
| 15 | g.48534058T>C | CA656136148 | FBN1 | c.862+22A>G (n.862+22A>G) c.636+3653A>G (n.636+3653A>G) | COSMIC |
| 15 | g.48534058T>G | CA2804072005 | FBN1 | c.862+22A>C (n.862+22A>C) c.636+3653A>C (n.636+3653A>C) | |
| 15 | g.48534059G= | CA2175536856 | FBN1 | c.862+21C= (n.862+21C=) c.636+3652C= (n.636+3652C=) | |
| 15 | g.48534059G>T | CA060226 | FBN1 | c.862+21C>A (n.862+21C>A) c.636+3652C>A (n.636+3652C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534060C>T | CA2628337412 | FBN1 | c.862+20G>A (n.862+20G>A) c.636+3651G>A (n.636+3651G>A) | gnomAD v4 |
| 15 | g.48534061A>C | CA656136149 | FBN1 | c.862+19T>G (n.862+19T>G) c.636+3650T>G (n.636+3650T>G) | COSMIC |
| 15 | g.48534062A>C | CA656136150 | FBN1 | c.862+18T>G (n.862+18T>G) c.636+3649T>G (n.636+3649T>G) | gnomAD v4 COSMIC |
| 15 | g.48534063A= | CA2175536857 | FBN1 | c.862+17T= (n.862+17T=) c.636+3648T= (n.636+3648T=) | |
| 15 | g.48534063A>G | CA617841876 | FBN1 | c.862+17T>C (n.862+17T>C) c.636+3648T>C (n.636+3648T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534064G>A | CA060220 | FBN1 | c.862+16C>T (n.862+16C>T) c.636+3647C>T (n.636+3647C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534064G= | CA2175536858 | FBN1 | c.862+16C= (n.862+16C=) c.636+3647C= (n.636+3647C=) | |
| 15 | g.48534065C= | CA2175536859 | FBN1 | c.862+15G= (n.862+15G=) c.636+3646G= (n.636+3646G=) | |
| 15 | g.48534065C>T | CA617841877 | FBN1 | c.862+15G>A (n.862+15G>A) c.636+3646G>A (n.636+3646G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534066A>C | CA2580089551 | FBN1 | c.862+14T>G (n.862+14T>G) c.636+3645T>G (n.636+3645T>G) | ClinVar gnomAD v4 |
| 15 | g.48534066A>G | CA2628337413 | FBN1 | c.862+14T>C (n.862+14T>C) c.636+3645T>C (n.636+3645T>C) | gnomAD v4 |
| 15 | g.48534066A>T | CA2575717682 | FBN1 | c.862+14T>A (n.862+14T>A) c.636+3645T>A (n.636+3645T>A) | gnomAD v4 |
| 15 | g.48534067T>C | CA2175536861 | FBN1 | c.862+13A>G (n.862+13A>G) c.636+3644A>G (n.636+3644A>G) | dbSNP gnomAD v4 |
| 15 | g.48534067T>G | CA2573150819 | FBN1 | c.862+13A>C (n.862+13A>C) c.636+3644A>C (n.636+3644A>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48534067T= | CA2175536860 | FBN1 | c.862+13A= (n.862+13A=) c.636+3644A= (n.636+3644A=) | |
| 15 | g.48534068A>G | CA2804072007 | FBN1 | c.862+12T>C (n.862+12T>C) c.636+3643T>C (n.636+3643T>C) | |
| 15 | g.48534069A>C | CA2628337414 | FBN1 | c.862+11T>G (n.862+11T>G) c.636+3642T>G (n.636+3642T>G) | gnomAD v4 |
| 15 | g.48534069A>G | CA2628337415 | FBN1 | c.862+11T>C (n.862+11T>C) c.636+3642T>C (n.636+3642T>C) | gnomAD v4 |
| 15 | g.48534070G>T | CA2804072008 | FBN1 | c.862+10C>A (n.862+10C>A) c.636+3641C>A (n.636+3641C>A) | |
| 15 | g.48534072T>G | CA2628337416 | FBN1 | c.862+8A>C (n.862+8A>C) c.636+3639A>C (n.636+3639A>C) | gnomAD v4 |
| 15 | g.48534073T>G | CA2628337417 | FBN1 | c.862+7A>C (n.862+7A>C) c.636+3638A>C (n.636+3638A>C) | gnomAD v4 |
| 15 | g.48534076T>C | CA713403489 | FBN1 | c.862+4A>G (n.862+4A>G) c.636+3635A>G (n.636+3635A>G) | dbSNP gnomAD v4 |
| 15 | g.48534076T= | CA2175536862 | FBN1 | c.862+4A= (n.862+4A=) c.636+3635A= (n.636+3635A=) | |
| 15 | g.48534077T>C | CA658824883 | FBN1 | c.862+3A>G (n.862+3A>G) c.636+3634A>G (n.636+3634A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534077T= | CA2175536863 | FBN1 | c.862+3A= (n.862+3A=) c.636+3634A= (n.636+3634A=) | |
| 15 | g.48534078A>C | CA392352223 | FBN1 | c.862+2T>G (n.862+2T>G) c.636+3633T>G (n.636+3633T>G) | |
| 15 | g.48534078A>G | CA392352220 | FBN1 | c.862+2T>C (n.862+2T>C) c.636+3633T>C (n.636+3633T>C) | |
| 15 | g.48534078A>T | CA392352222 | FBN1 | c.862+2T>A (n.862+2T>A) c.636+3633T>A (n.636+3633T>A) | gnomAD v4 |
| 15 | g.48534079C>A | CA392352225 | FBN1 | c.862+1G>T (n.862+1G>T) c.636+3632G>T (n.636+3632G>T) | |
| 15 | g.48534079C>G | CA392352227 | FBN1 | c.862+1G>C (n.862+1G>C) c.636+3632G>C (n.636+3632G>C) | |
| 15 | g.48534079C>T | CA392352229 | FBN1 | c.862+1G>A (n.862+1G>A) c.636+3632G>A (n.636+3632G>A) | |
| 15 | g.48534080C>A | CA392352231 | FBN1 | c.862G>T (p.Asp288Tyr) c.636+3631G>T (n.636+3631G>T) | |
| 15 | g.48534080C>G | CA392352232 | FBN1 | c.862G>C (p.Asp288His) c.636+3631G>C (n.636+3631G>C) | |
| 15 | g.48534080C>T | CA392352233 | FBN1 | c.862G>A (p.Asp288Asn) c.636+3631G>A (n.636+3631G>A) | ClinVar |
| 15 | g.48534081_48534083del | CA2628337418 | FBN1 | c.860_862del (p.Glu287del) c.636+3629_636+3631del (n.636+3629_636+3631del) | gnomAD v4 |
| 15 | g.48534081T>A | CA392352236 | FBN1 | c.861A>T (p.Glu287Asp) c.636+3630A>T (n.636+3630A>T) | |
| 15 | g.48534081T>C | CA490028639 | FBN1 | c.861A>G (p.Glu287=) c.636+3630A>G (n.636+3630A>G) | |
| 15 | g.48534081T>G | CA392352238 | FBN1 | c.861A>C (p.Glu287Asp) c.636+3630A>C (n.636+3630A>C) | |
| 15 | g.48534082T>A | CA392352240 | FBN1 | c.860A>T (p.Glu287Val) c.636+3629A>T (n.636+3629A>T) | |
| 15 | g.48534082T>C | CA392352242 | FBN1 | c.860A>G (p.Glu287Gly) c.636+3629A>G (n.636+3629A>G) | ClinVar dbSNP |
| 15 | g.48534082T>G | CA392352244 | FBN1 | c.860A>C (p.Glu287Ala) c.636+3629A>C (n.636+3629A>C) | |
| 15 | g.48534082T= | CA2175536864 | FBN1 | c.860A= (p.Glu287=) c.636+3629A= (n.636+3629A=) | |
| 15 | g.48534083C>A | CA392352248 | FBN1 | c.859G>T (p.Glu287Ter) c.636+3628G>T (n.636+3628G>T) | ClinVar dbSNP |
| 15 | g.48534083C= | CA2175536865 | FBN1 | c.859G= (p.Glu287=) c.636+3628G= (n.636+3628G=) | |
| 15 | g.48534083C>G | CA392352252 | FBN1 | c.859G>C (p.Glu287Gln) c.636+3628G>C (n.636+3628G>C) | |
| 15 | g.48534083C>T | CA392352249 | FBN1 | c.859G>A (p.Glu287Lys) c.636+3628G>A (n.636+3628G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48534084A>C | CA392352255 | FBN1 | c.858T>G (p.Cys286Trp) c.636+3627T>G (n.636+3627T>G) | |
| 15 | g.48534084A>G | CA490028640 | FBN1 | c.858T>C (p.Cys286=) c.636+3627T>C (n.636+3627T>C) | |
| 15 | g.48534084A>T | CA392352256 | FBN1 | c.858T>A (p.Cys286Ter) c.636+3627T>A (n.636+3627T>A) | gnomAD v4 |
| 15 | g.48534085C>A | CA392352258 | FBN1 | c.857G>T (p.Cys286Phe) c.636+3626G>T (n.636+3626G>T) | |
| 15 | g.48534085C>G | CA392352261 | FBN1 | c.857G>C (p.Cys286Ser) c.636+3626G>C (n.636+3626G>C) | |
| 15 | g.48534085C>T | CA392352262 | FBN1 | c.857G>A (p.Cys286Tyr) c.636+3626G>A (n.636+3626G>A) | |
| 15 | g.48534086A>C | CA392352263 | FBN1 | c.856T>G (p.Cys286Gly) c.636+3625T>G (n.636+3625T>G) | |
| 15 | g.48534086A>G | CA392352265 | FBN1 | c.856T>C (p.Cys286Arg) c.636+3625T>C (n.636+3625T>C) | |
| 15 | g.48534086A>T | CA392352267 | FBN1 | c.856T>A (p.Cys286Ser) c.636+3625T>A (n.636+3625T>A) | |
| 15 | g.48534087T>A | CA392352269 | FBN1 | c.855A>T (p.Lys285Asn) c.636+3624A>T (n.636+3624A>T) | |
| 15 | g.48534087T>C | CA490028641 | FBN1 | c.855A>G (p.Lys285=) c.636+3624A>G (n.636+3624A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534087T>G | CA392352271 | FBN1 | c.855A>C (p.Lys285Asn) c.636+3624A>C (n.636+3624A>C) | gnomAD v4 |
| 15 | g.48534087T= | CA2175536866 | FBN1 | c.855A= (p.Lys285=) c.636+3624A= (n.636+3624A=) | |
| 15 | g.48534091dup | CA2573054043 | FBN1 | c.855dup (p.Cys286MetfsTer2) c.636+3624dup (n.636+3624dup) | ClinVar dbSNP |
| 15 | g.48534091del | CA2573150820 | FBN1 | c.855del (p.Lys285AsnfsTer?) c.636+3624del (n.636+3624del) | ClinVar dbSNP |
| 15 | g.48534088T>A | CA392352276 | FBN1 | c.854A>T (p.Lys285Ile) c.636+3623A>T (n.636+3623A>T) | |
| 15 | g.48534088T>C | CA392352278 | FBN1 | c.854A>G (p.Lys285Arg) c.636+3623A>G (n.636+3623A>G) | |
| 15 | g.48534088T>G | CA392352274 | FBN1 | c.854A>C (p.Lys285Thr) c.636+3623A>C (n.636+3623A>C) | gnomAD v4 |
| 15 | g.48534089T>A | CA392352280 | FBN1 | c.853A>T (p.Lys285Ter) c.636+3622A>T (n.636+3622A>T) | |
| 15 | g.48534089T>C | CA392352283 | FBN1 | c.853A>G (p.Lys285Glu) c.636+3622A>G (n.636+3622A>G) | |
| 15 | g.48534089T>G | CA392352285 | FBN1 | c.853A>C (p.Lys285Gln) c.636+3622A>C (n.636+3622A>C) | |
| 15 | g.48534090T>A | CA392352288 | FBN1 | c.852A>T (p.Gln284His) c.636+3621A>T (n.636+3621A>T) | |
| 15 | g.48534090T>C | CA490028642 | FBN1 | c.852A>G (p.Gln284=) c.636+3621A>G (n.636+3621A>G) | |
| 15 | g.48534090T>G | CA392352289 | FBN1 | c.852A>C (p.Gln284His) c.636+3621A>C (n.636+3621A>C) | |
| 15 | g.48534091T>A | CA392352296 | FBN1 | c.851A>T (p.Gln284Leu) c.636+3620A>T (n.636+3620A>T) | |
| 15 | g.48534091T>C | CA392352294 | FBN1 | c.851A>G (p.Gln284Arg) c.636+3620A>G (n.636+3620A>G) | |
| 15 | g.48534091T>G | CA392352292 | FBN1 | c.851A>C (p.Gln284Pro) c.636+3620A>C (n.636+3620A>C) | |
| 15 | g.48534092G>A | CA392352298 | FBN1 | c.850C>T (p.Gln284Ter) c.636+3619C>T (n.636+3619C>T) | |
| 15 | g.48534092G>C | CA392352300 | FBN1 | c.850C>G (p.Gln284Glu) c.636+3619C>G (n.636+3619C>G) | |
| 15 | g.48534092G= | CA2175536867 | FBN1 | c.850C= (p.Gln284=) c.636+3619C= (n.636+3619C=) | |
| 15 | g.48534092G>T | CA392352302 | FBN1 | c.850C>A (p.Gln284Lys) c.636+3619C>A (n.636+3619C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534093T>A | CA490028643 | FBN1 | c.849A>T (p.Ser283=) c.636+3618A>T (n.636+3618A>T) | |
| 15 | g.48534093T>C | CA490028644 | FBN1 | c.849A>G (p.Ser283=) c.636+3618A>G (n.636+3618A>G) | ClinVar dbSNP |
| 15 | g.48534093T>G | CA490028645 | FBN1 | c.849A>C (p.Ser283=) c.636+3618A>C (n.636+3618A>C) | |
| 15 | g.48534094G>A | CA392352304 | FBN1 | c.848C>T (p.Ser283Leu) c.636+3617C>T (n.636+3617C>T) | |
| 15 | g.48534094G>C | CA392352306 | FBN1 | c.848C>G (p.Ser283Ter) c.636+3617C>G (n.636+3617C>G) | |
| 15 | g.48534094G= | CA2175536868 | FBN1 | c.848C= (p.Ser283=) c.636+3617C= (n.636+3617C=) | |
| 15 | g.48534094G>T | CA392352309 | FBN1 | c.848C>A (p.Ser283Ter) c.636+3617C>A (n.636+3617C>A) | dbSNP COSMIC |
| 15 | g.48534095A>C | CA392352311 | FBN1 | c.847T>G (p.Ser283Ala) c.636+3616T>G (n.636+3616T>G) | |
| 15 | g.48534095A>G | CA392352314 | FBN1 | c.847T>C (p.Ser283Pro) c.636+3616T>C (n.636+3616T>C) | |
| 15 | g.48534095A>T | CA392352313 | FBN1 | c.847T>A (p.Ser283Thr) c.636+3616T>A (n.636+3616T>A) | |
| 15 | g.48534096C>A | CA490028647 | FBN1 | c.846G>T (p.Val282=) c.636+3615G>T (n.636+3615G>T) | |
| 15 | g.48534096C= | CA2175536869 | FBN1 | c.846G= (p.Val282=) c.636+3615G= (n.636+3615G=) | |
| 15 | g.48534096C>G | CA490028648 | FBN1 | c.846G>C (p.Val282=) c.636+3615G>C (n.636+3615G>C) | |
| 15 | g.48534096C>T | CA490028646 | FBN1 | c.846G>A (p.Val282=) c.636+3615G>A (n.636+3615G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48534097A>C | CA392352316 | FBN1 | c.845T>G (p.Val282Gly) c.636+3614T>G (n.636+3614T>G) | |
| 15 | g.48534097A>G | CA392352317 | FBN1 | c.845T>C (p.Val282Ala) c.636+3614T>C (n.636+3614T>C) | |
| 15 | g.48534097A>T | CA392352319 | FBN1 | c.845T>A (p.Val282Glu) c.636+3614T>A (n.636+3614T>A) | |
| 15 | g.48534098C>A | CA392352325 | FBN1 | c.844G>T (p.Val282Leu) c.636+3613G>T (n.636+3613G>T) | |
| 15 | g.48534098C= | CA2175536871 | FBN1 | c.844G= (p.Val282=) c.636+3613G= (n.636+3613G=) | |
| 15 | g.48534098C>G | CA392352327 | FBN1 | c.844G>C (p.Val282Leu) c.636+3613G>C (n.636+3613G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534098C>T | CA392352329 | FBN1 | c.844G>A (p.Val282Met) c.636+3613G>A (n.636+3613G>A) | |
| 15 | g.48534098_48534102delinsCTTCA | CA2175536870 | FBN1 | c.840_844delinsTGAAG (p.Asn280=) c.636+3609_636+3613delinsTGAAG (n.636+3609_636+3613delinsTGAAG) | |
| 15 | g.48534099T>A | CA392352332 | FBN1 | c.843A>T (p.Glu281Asp) c.636+3612A>T (n.636+3612A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534099T>C | CA490028649 | FBN1 | c.843A>G (p.Glu281=) c.636+3612A>G (n.636+3612A>G) | dbSNP |
| 15 | g.48534099T>G | CA060012 | FBN1 | c.843A>C (p.Glu281Asp) c.636+3612A>C (n.636+3612A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534099T= | CA2175536872 | FBN1 | c.843A= (p.Glu281=) c.636+3612A= (n.636+3612A=) | |
| 15 | g.48534101_48534104del | CA16043495 | FBN1 | c.840_843del (p.Asn280LysfsTer?) c.636+3609_636+3612del (n.636+3609_636+3612del) | ClinVar dbSNP |
| 15 | g.48534100T>A | CA392352338 | FBN1 | c.842A>T (p.Glu281Val) c.636+3611A>T (n.636+3611A>T) | |
| 15 | g.48534100T>C | CA392352341 | FBN1 | c.842A>G (p.Glu281Gly) c.636+3611A>G (n.636+3611A>G) | |
| 15 | g.48534100T>G | CA392352343 | FBN1 | c.842A>C (p.Glu281Ala) c.636+3611A>C (n.636+3611A>C) | |
| 15 | g.48534100T= | CA2175536873 | FBN1 | c.842A= (p.Glu281=) c.636+3611A= (n.636+3611A=) | |
| 15 | g.48534100_48534101insA | CA10587859 | FBN1 | c.841_842insT (p.Glu281ValfsTer7) c.636+3610_636+3611insT (n.636+3610_636+3611insT) | ClinVar dbSNP |
| 15 | g.48534101C>A | CA392352350 | FBN1 | c.841G>T (p.Glu281Ter) c.636+3610G>T (n.636+3610G>T) | |
| 15 | g.48534101C>G | CA392352348 | FBN1 | c.841G>C (p.Glu281Gln) c.636+3610G>C (n.636+3610G>C) | |
| 15 | g.48534101C>T | CA392352346 | FBN1 | c.841G>A (p.Glu281Lys) c.636+3610G>A (n.636+3610G>A) | |
| 15 | g.48534102A>C | CA392352354 | FBN1 | c.840T>G (p.Asn280Lys) c.636+3609T>G (n.636+3609T>G) | COSMIC |
| 15 | g.48534102A>G | CA490028650 | FBN1 | c.840T>C (p.Asn280=) c.636+3609T>C (n.636+3609T>C) | |
| 15 | g.48534102A>T | CA392352353 | FBN1 | c.840T>A (p.Asn280Lys) c.636+3609T>A (n.636+3609T>A) | |
| 15 | g.48534103T>A | CA392352358 | FBN1 | c.839A>T (p.Asn280Ile) c.636+3608A>T (n.636+3608A>T) | |
| 15 | g.48534103T>C | CA392352357 | FBN1 | c.839A>G (p.Asn280Ser) c.636+3608A>G (n.636+3608A>G) | |
| 15 | g.48534103T>G | CA392352360 | FBN1 | c.839A>C (p.Asn280Thr) c.636+3608A>C (n.636+3608A>C) | gnomAD v4 |
| 15 | g.48534104T>A | CA392352362 | FBN1 | c.838A>T (p.Asn280Tyr) c.636+3607A>T (n.636+3607A>T) | |
| 15 | g.48534104T>C | CA392352364 | FBN1 | c.838A>G (p.Asn280Asp) c.636+3607A>G (n.636+3607A>G) | |
| 15 | g.48534104T>G | CA392352366 | FBN1 | c.838A>C (p.Asn280His) c.636+3607A>C (n.636+3607A>C) | |
| 15 | g.48534105A= | CA2175536874 | FBN1 | c.837T= (p.Leu279=) c.636+3606T= (n.636+3606T=) | |
| 15 | g.48534105A>C | CA490028651 | FBN1 | c.837T>G (p.Leu279=) c.636+3606T>G (n.636+3606T>G) | |
| 15 | g.48534105A>G | CA490028652 | FBN1 | c.837T>C (p.Leu279=) c.636+3606T>C (n.636+3606T>C) | |
| 15 | g.48534105A>T | CA490028653 | FBN1 | c.837T>A (p.Leu279=) c.636+3606T>A (n.636+3606T>A) | ClinVar dbSNP |
| 15 | g.48534106A>C | CA392352368 | FBN1 | c.836T>G (p.Leu279Arg) c.636+3605T>G (n.636+3605T>G) | gnomAD v4 |
| 15 | g.48534106A>G | CA392352370 | FBN1 | c.836T>C (p.Leu279Pro) c.636+3605T>C (n.636+3605T>C) | |
| 15 | g.48534106A>T | CA392352372 | FBN1 | c.836T>A (p.Leu279His) c.636+3605T>A (n.636+3605T>A) | |
| 15 | g.48534107G>A | CA392352374 | FBN1 | c.835C>T (p.Leu279Phe) c.636+3604C>T (n.636+3604C>T) | |
| 15 | g.48534107G>C | CA392352378 | FBN1 | c.835C>G (p.Leu279Val) c.636+3604C>G (n.636+3604C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534107G= | CA2175536875 | FBN1 | c.835C= (p.Leu279=) c.636+3604C= (n.636+3604C=) | |
| 15 | g.48534107G>T | CA392352380 | FBN1 | c.835C>A (p.Leu279Ile) c.636+3604C>A (n.636+3604C>A) | |
| 15 | g.48534108T>A | CA392352383 | FBN1 | c.834A>T (p.Lys278Asn) c.636+3603A>T (n.636+3603A>T) | |
| 15 | g.48534108T>C | CA490028654 | FBN1 | c.834A>G (p.Lys278=) c.636+3603A>G (n.636+3603A>G) | gnomAD v4 |
| 15 | g.48534108T>G | CA392352384 | FBN1 | c.834A>C (p.Lys278Asn) c.636+3603A>C (n.636+3603A>C) | |
| 15 | g.48534109T>A | CA392352385 | FBN1 | c.833A>T (p.Lys278Ile) c.636+3602A>T (n.636+3602A>T) | |
| 15 | g.48534109T>C | CA392352386 | FBN1 | c.833A>G (p.Lys278Arg) c.636+3602A>G (n.636+3602A>G) | |
| 15 | g.48534109T>G | CA392352388 | FBN1 | c.833A>C (p.Lys278Thr) c.636+3602A>C (n.636+3602A>C) | |
| 15 | g.48534110T>A | CA392352394 | FBN1 | c.832A>T (p.Lys278Ter) c.636+3601A>T (n.636+3601A>T) | |
| 15 | g.48534110T>C | CA059948 | FBN1 | c.832A>G (p.Lys278Glu) c.636+3601A>G (n.636+3601A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534110T>G | CA392352391 | FBN1 | c.832A>C (p.Lys278Gln) c.636+3601A>C (n.636+3601A>C) | |
| 15 | g.48534110T= | CA2175536876 | FBN1 | c.832A= (p.Lys278=) c.636+3601A= (n.636+3601A=) | |
| 15 | g.48534110_48534111delinsTG | CA2175536877 | FBN1 | c.831_832delinsCA (p.His277=) c.636+3600_636+3601delinsCA (n.636+3600_636+3601delinsCA) | |
| 15 | g.48534111del | CA916082426 | FBN1 | c.831del (p.His277GlnfsTer?) c.636+3600del (n.636+3600del) | ClinVar dbSNP |
| 15 | g.48534111G>A | CA490028655 | FBN1 | c.831C>T (p.His277=) c.636+3600C>T (n.636+3600C>T) | |
| 15 | g.48534111G>C | CA392352396 | FBN1 | c.831C>G (p.His277Gln) c.636+3600C>G (n.636+3600C>G) | |
| 15 | g.48534111G>T | CA392352398 | FBN1 | c.831C>A (p.His277Gln) c.636+3600C>A (n.636+3600C>A) | ClinVar |
| 15 | g.48534112T>A | CA392352400 | FBN1 | c.830A>T (p.His277Leu) c.636+3599A>T (n.636+3599A>T) | ClinVar |
| 15 | g.48534112T>C | CA392352402 | FBN1 | c.830A>G (p.His277Arg) c.636+3599A>G (n.636+3599A>G) | |
| 15 | g.48534112T>G | CA392352404 | FBN1 | c.830A>C (p.His277Pro) c.636+3599A>C (n.636+3599A>C) | |
| 15 | g.48534113G>A | CA392352406 | FBN1 | c.829C>T (p.His277Tyr) c.636+3598C>T (n.636+3598C>T) | |
| 15 | g.48534113G>C | CA392352408 | FBN1 | c.829C>G (p.His277Asp) c.636+3598C>G (n.636+3598C>G) | |
| 15 | g.48534113G>T | CA392352410 | FBN1 | c.829C>A (p.His277Asn) c.636+3598C>A (n.636+3598C>A) | |
| 15 | g.48534114T>A | CA490028656 | FBN1 | c.828A>T (p.Gly276=) c.636+3597A>T (n.636+3597A>T) | |
| 15 | g.48534114T>C | CA490028657 | FBN1 | c.828A>G (p.Gly276=) c.636+3597A>G (n.636+3597A>G) | |
| 15 | g.48534114T>G | CA490028658 | FBN1 | c.828A>C (p.Gly276=) c.636+3597A>C (n.636+3597A>C) | |
| 15 | g.48534115C>A | CA392352412 | FBN1 | c.827G>T (p.Gly276Val) c.636+3596G>T (n.636+3596G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534115C= | CA2175536878 | FBN1 | c.827G= (p.Gly276=) c.636+3596G= (n.636+3596G=) | |
| 15 | g.48534115C>G | CA392352414 | FBN1 | c.827G>C (p.Gly276Ala) c.636+3596G>C (n.636+3596G>C) | |
| 15 | g.48534115C>T | CA059889 | FBN1 | c.827G>A (p.Gly276Glu) c.636+3596G>A (n.636+3596G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48534116C>A | CA392352419 | FBN1 | c.826G>T (p.Gly276Ter) c.636+3595G>T (n.636+3595G>T) | |
| 15 | g.48534116C= | CA2175536879 | FBN1 | c.826G= (p.Gly276=) c.636+3595G= (n.636+3595G=) | |
| 15 | g.48534116C>G | CA392352420 | FBN1 | c.826G>C (p.Gly276Arg) c.636+3595G>C (n.636+3595G>C) | |
| 15 | g.48534116C>T | CA392352423 | FBN1 | c.826G>A (p.Gly276Arg) c.636+3595G>A (n.636+3595G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48534117A>C | CA490028661 | FBN1 | c.825T>G (p.Ala275=) c.636+3594T>G (n.636+3594T>G) | |
| 15 | g.48534117A>G | CA490028659 | FBN1 | c.825T>C (p.Ala275=) c.636+3594T>C (n.636+3594T>C) | |
| 15 | g.48534117A>T | CA490028660 | FBN1 | c.825T>A (p.Ala275=) c.636+3594T>A (n.636+3594T>A) | |
| 15 | g.48534118G>A | CA392352426 | FBN1 | c.824C>T (p.Ala275Val) c.636+3593C>T (n.636+3593C>T) | COSMIC |
| 15 | g.48534118G>C | CA392352428 | FBN1 | c.824C>G (p.Ala275Gly) c.636+3593C>G (n.636+3593C>G) | |
| 15 | g.48534118G= | CA2175536880 | FBN1 | c.824C= (p.Ala275=) c.636+3593C= (n.636+3593C=) | |
| 15 | g.48534118G>T | CA059881 | FBN1 | c.824C>A (p.Ala275Asp) c.636+3593C>A (n.636+3593C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534119C>A | CA392352430 | FBN1 | c.823G>T (p.Ala275Ser) c.636+3592G>T (n.636+3592G>T) | |
| 15 | g.48534119C= | CA2175536881 | FBN1 | c.823G= (p.Ala275=) c.636+3592G= (n.636+3592G=) | |
| 15 | g.48534119C>G | CA392352432 | FBN1 | c.823G>C (p.Ala275Pro) c.636+3592G>C (n.636+3592G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534119C>T | CA392352434 | FBN1 | c.823G>A (p.Ala275Thr) c.636+3592G>A (n.636+3592G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534120A= | CA2175536882 | FBN1 | c.822T= (p.Pro274=) c.636+3591T= (n.636+3591T=) | |
| 15 | g.48534120A>C | CA490028662 | FBN1 | c.822T>G (p.Pro274=) c.636+3591T>G (n.636+3591T>G) | |
| 15 | g.48534120A>G | CA490028663 | FBN1 | c.822T>C (p.Pro274=) c.636+3591T>C (n.636+3591T>C) | dbSNP |
| 15 | g.48534120A>T | CA490028664 | FBN1 | c.822T>A (p.Pro274=) c.636+3591T>A (n.636+3591T>A) | |
| 15 | g.48534121G>A | CA392352441 | FBN1 | c.821C>T (p.Pro274Leu) c.636+3590C>T (n.636+3590C>T) | |
| 15 | g.48534121G>C | CA392352443 | FBN1 | c.821C>G (p.Pro274Arg) c.636+3590C>G (n.636+3590C>G) | |
| 15 | g.48534121G= | CA2175536883 | FBN1 | c.821C= (p.Pro274=) c.636+3590C= (n.636+3590C=) | |
| 15 | g.48534121G>T | CA392352445 | FBN1 | c.821C>A (p.Pro274His) c.636+3590C>A (n.636+3590C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534123del | CA2695220363 | FBN1 | c.821del (p.Pro274LeufsTer?) c.636+3590del (n.636+3590del) | |
| 15 | g.48534122G>A | CA392352453 | FBN1 | c.820C>T (p.Pro274Ser) c.636+3589C>T (n.636+3589C>T) | |
| 15 | g.48534122G>C | CA392352449 | FBN1 | c.820C>G (p.Pro274Ala) c.636+3589C>G (n.636+3589C>G) | |
| 15 | g.48534122G>T | CA392352451 | FBN1 | c.820C>A (p.Pro274Thr) c.636+3589C>A (n.636+3589C>A) | gnomAD v4 |
| 15 | g.48534123G>A | CA490028665 | FBN1 | c.819C>T (p.Cys273=) c.636+3588C>T (n.636+3588C>T) | ClinVar dbSNP |
| 15 | g.48534123G>C | CA392352456 | FBN1 | c.819C>G (p.Cys273Trp) c.636+3588C>G (n.636+3588C>G) | |
| 15 | g.48534123G= | CA2175536884 | FBN1 | c.819C= (p.Cys273=) c.636+3588C= (n.636+3588C=) | |
| 15 | g.48534123G>T | CA392352457 | FBN1 | c.819C>A (p.Cys273Ter) c.636+3588C>A (n.636+3588C>A) | ClinVar |
| 15 | g.48534124C>A | CA392352460 | FBN1 | c.818G>T (p.Cys273Phe) c.636+3587G>T (n.636+3587G>T) | |
| 15 | g.48534124C>G | CA392352462 | FBN1 | c.818G>C (p.Cys273Ser) c.636+3587G>C (n.636+3587G>C) | |
| 15 | g.48534124C>T | CA392352465 | FBN1 | c.818G>A (p.Cys273Tyr) c.636+3587G>A (n.636+3587G>A) | |
| 15 | g.48534125A>C | CA392352467 | FBN1 | c.817T>G (p.Cys273Gly) c.636+3586T>G (n.636+3586T>G) | |
| 15 | g.48534125A>G | CA392352471 | FBN1 | c.817T>C (p.Cys273Arg) c.636+3586T>C (n.636+3586T>C) | |
| 15 | g.48534125A>T | CA392352469 | FBN1 | c.817T>A (p.Cys273Ser) c.636+3586T>A (n.636+3586T>A) | |
| 15 | g.48534126T>A | CA392352473 | FBN1 | c.816A>T (p.Lys272Asn) c.636+3585A>T (n.636+3585A>T) | |
| 15 | g.48534126T>C | CA490028666 | FBN1 | c.816A>G (p.Lys272=) c.636+3585A>G (n.636+3585A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534126T>G | CA392352475 | FBN1 | c.816A>C (p.Lys272Asn) c.636+3585A>C (n.636+3585A>C) | |
| 15 | g.48534126T= | CA2175536885 | FBN1 | c.816A= (p.Lys272=) c.636+3585A= (n.636+3585A=) | |
| 15 | g.48534127T>A | CA392352477 | FBN1 | c.815A>T (p.Lys272Ile) c.636+3584A>T (n.636+3584A>T) | |
| 15 | g.48534127T>C | CA059693 | FBN1 | c.815A>G (p.Lys272Arg) c.636+3584A>G (n.636+3584A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534127T>G | CA392352481 | FBN1 | c.815A>C (p.Lys272Thr) c.636+3584A>C (n.636+3584A>C) | |
| 15 | g.48534127T= | CA2175536886 | FBN1 | c.815A= (p.Lys272=) c.636+3584A= (n.636+3584A=) | |
| 15 | g.48534127_48534128delinsTT | CA2175536887 | FBN1 | c.814_815delinsAA (p.Lys272=) c.636+3583_636+3584delinsAA (n.636+3583_636+3584delinsAA) | |
| 15 | g.48534128T>A | CA392352484 | FBN1 | c.814A>T (p.Lys272Ter) c.636+3583A>T (n.636+3583A>T) | |
| 15 | g.48534128T>C | CA392352486 | FBN1 | c.814A>G (p.Lys272Glu) c.636+3583A>G (n.636+3583A>G) | |
| 15 | g.48534128T>G | CA017572 | FBN1 | c.814A>C (p.Lys272Gln) c.636+3583A>C (n.636+3583A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534128T= | CA2175536888 | FBN1 | c.814A= (p.Lys272=) c.636+3583A= (n.636+3583A=) | |
| 15 | g.48534128delinsAAGTTTGTGTCCAGCAGGGCATTGTGTCCA | CA915946610 | FBN1 | c.814delinsTGGACACAATGCCCTGCTGGACACAAACTT (p.Lys272TrpfsTer?) c.636+3583delinsTGGACACAATGCCCTGCTGGACACAAACTT (n.636+3583delinsTGGACACAATGCCCTGCTGGACACAAACTT) | ClinVar dbSNP |
| 15 | g.48534129G>A | CA490028667 | FBN1 | c.813C>T (p.Cys271=) c.636+3582C>T (n.636+3582C>T) | gnomAD v4 |
| 15 | g.48534129G>C | CA059648 | FBN1 | c.813C>G (p.Cys271Trp) c.636+3582C>G (n.636+3582C>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.48534129G= | CA2175536889 | FBN1 | c.813C= (p.Cys271=) c.636+3582C= (n.636+3582C=) | |
| 15 | g.48534129G>T | CA017565 | FBN1 | c.813C>A (p.Cys271Ter) c.636+3582C>A (n.636+3582C>A) | dbSNP |
| 15 | g.48534130C>A | CA392352496 | FBN1 | c.812G>T (p.Cys271Phe) c.636+3581G>T (n.636+3581G>T) | |
| 15 | g.48534130C>G | CA392352499 | FBN1 | c.812G>C (p.Cys271Ser) c.636+3581G>C (n.636+3581G>C) | |
| 15 | g.48534130C>T | CA392352498 | FBN1 | c.812G>A (p.Cys271Tyr) c.636+3581G>A (n.636+3581G>A) | ClinVar |
| 15 | g.48534130_48534139delinsCACTCAAAAG | CA2175536890 | FBN1 | c.803_812delinsCTTTTGAGTG (p.Ser268=) c.636+3572_636+3581delinsCTTTTGAGTG (n.636+3572_636+3581delinsCTTTTGAGTG) | |
| 15 | g.48534131A= | CA2175536891 | FBN1 | c.811T= (p.Cys271=) c.636+3580T= (n.636+3580T=) | |
| 15 | g.48534131A>C | CA16614684 | FBN1 | c.811T>G (p.Cys271Gly) c.636+3580T>G (n.636+3580T>G) | ClinVar dbSNP |
| 15 | g.48534131A>G | CA392352503 | FBN1 | c.811T>C (p.Cys271Arg) c.636+3580T>C (n.636+3580T>C) | |
| 15 | g.48534131A>T | CA392352506 | FBN1 | c.811T>A (p.Cys271Ser) c.636+3580T>A (n.636+3580T>A) | ClinVar |
| 15 | g.48534133_48534141del | CA017523 | FBN1 | c.803_811del (p.Ser268_Glu270del) c.636+3572_636+3580del (n.636+3572_636+3580del) | ClinVar dbSNP |
| 15 | g.48534132C>A | CA392352512 | FBN1 | c.810G>T (p.Glu270Asp) c.636+3579G>T (n.636+3579G>T) | |
| 15 | g.48534132C>G | CA392352514 | FBN1 | c.810G>C (p.Glu270Asp) c.636+3579G>C (n.636+3579G>C) | |
| 15 | g.48534132C>T | CA490028668 | FBN1 | c.810G>A (p.Glu270=) c.636+3579G>A (n.636+3579G>A) | ClinVar |
| 15 | g.48534132_48534146del | CA2580089570 | FBN1 | c.796_810del (p.Val266_Glu270del) c.636+3565_636+3579del (n.636+3565_636+3579del) | ClinVar |
| 15 | g.48534133T>A | CA392352521 | FBN1 | c.809A>T (p.Glu270Val) c.636+3578A>T (n.636+3578A>T) | |
| 15 | g.48534133T>C | CA392352518 | FBN1 | c.809A>G (p.Glu270Gly) c.636+3578A>G (n.636+3578A>G) | |
| 15 | g.48534133T>G | CA392352520 | FBN1 | c.809A>C (p.Glu270Ala) c.636+3578A>C (n.636+3578A>C) | |
| 15 | g.48534134C>A | CA392352522 | FBN1 | c.808G>T (p.Glu270Ter) c.636+3577G>T (n.636+3577G>T) | |
| 15 | g.48534134C= | CA2175536892 | FBN1 | c.808G= (p.Glu270=) c.636+3577G= (n.636+3577G=) | |
| 15 | g.48534134C>G | CA392352523 | FBN1 | c.808G>C (p.Glu270Gln) c.636+3577G>C (n.636+3577G>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48534134C>T | CA392352526 | FBN1 | c.808G>A (p.Glu270Lys) c.636+3577G>A (n.636+3577G>A) | gnomAD v4 |
| 15 | g.48534135A>C | CA392352528 | FBN1 | c.807T>G (p.Phe269Leu) c.636+3576T>G (n.636+3576T>G) | |
| 15 | g.48534135A>G | CA490028669 | FBN1 | c.807T>C (p.Phe269=) c.636+3576T>C (n.636+3576T>C) | |
| 15 | g.48534135A>T | CA392352530 | FBN1 | c.807T>A (p.Phe269Leu) c.636+3576T>A (n.636+3576T>A) | ClinVar gnomAD v4 |
| 15 | g.48534136A= | CA2175536893 | FBN1 | c.806T= (p.Phe269=) c.636+3575T= (n.636+3575T=) | |
| 15 | g.48534136A>C | CA392352537 | FBN1 | c.806T>G (p.Phe269Cys) c.636+3575T>G (n.636+3575T>G) | |
| 15 | g.48534136A>G | CA269573077 | FBN1 | c.806T>C (p.Phe269Ser) c.636+3575T>C (n.636+3575T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534136A>T | CA392352535 | FBN1 | c.806T>A (p.Phe269Tyr) c.636+3575T>A (n.636+3575T>A) | |
| 15 | g.48534136_48534143delinsAAAGACCC | CA2175536894 | FBN1 | c.799_806delinsGGGTCTTT (p.Gly267=) c.636+3568_636+3575delinsGGGTCTTT (n.636+3568_636+3575delinsGGGTCTTT) | |
| 15 | g.48534137A>C | CA392352540 | FBN1 | c.805T>G (p.Phe269Val) c.636+3574T>G (n.636+3574T>G) | |
| 15 | g.48534137A>G | CA392352542 | FBN1 | c.805T>C (p.Phe269Leu) c.636+3574T>C (n.636+3574T>C) | gnomAD v4 |
| 15 | g.48534137A>T | CA392352544 | FBN1 | c.805T>A (p.Phe269Ile) c.636+3574T>A (n.636+3574T>A) | |
| 15 | g.48534139_48534145del | CA16614686 | FBN1 | c.799_805del (p.Gly267LeufsTer?) c.636+3568_636+3574del (n.636+3568_636+3574del) | ClinVar dbSNP |
| 15 | g.48534138A>C | CA490028670 | FBN1 | c.804T>G (p.Ser268=) c.636+3573T>G (n.636+3573T>G) | |
| 15 | g.48534138A>G | CA490028672 | FBN1 | c.804T>C (p.Ser268=) c.636+3573T>C (n.636+3573T>C) | |
| 15 | g.48534138A>T | CA490028671 | FBN1 | c.804T>A (p.Ser268=) c.636+3573T>A (n.636+3573T>A) | |
| 15 | g.48534139G>A | CA392352545 | FBN1 | c.803C>T (p.Ser268Phe) c.636+3572C>T (n.636+3572C>T) | COSMIC |
| 15 | g.48534139G>C | CA392352546 | FBN1 | c.803C>G (p.Ser268Cys) c.636+3572C>G (n.636+3572C>G) | |
| 15 | g.48534139G>T | CA392352547 | FBN1 | c.803C>A (p.Ser268Tyr) c.636+3572C>A (n.636+3572C>A) | gnomAD v4 |
| 15 | g.48534140A>C | CA392352548 | FBN1 | c.802T>G (p.Ser268Ala) c.636+3571T>G (n.636+3571T>G) | ClinVar |
| 15 | g.48534140A>G | CA392352549 | FBN1 | c.802T>C (p.Ser268Pro) c.636+3571T>C (n.636+3571T>C) | ClinVar |
| 15 | g.48534140A>T | CA392352550 | FBN1 | c.802T>A (p.Ser268Thr) c.636+3571T>A (n.636+3571T>A) | |
| 15 | g.48534140_48534141delinsAC | CA2175536895 | FBN1 | c.801_802delinsGT (p.Gly267=) c.636+3570_636+3571delinsGT (n.636+3570_636+3571delinsGT) | |
| 15 | g.48534140_48534165delinsACCCAACAGTATTAATGCAATTTCCT | CA2175536896 | FBN1 | c.777_802delinsAGGAAATTGCATTAATACTGTTGGGT (p.Gly259=) c.636+3546_636+3571delinsAGGAAATTGCATTAATACTGTTGGGT (n.636+3546_636+3571delinsAGGAAATTGCATTAATACTGTTGGGT) | |
| 15 | g.48534141C>A | CA490028673 | FBN1 | c.801G>T (p.Gly267=) c.636+3570G>T (n.636+3570G>T) | |
| 15 | g.48534141C>G | CA490028674 | FBN1 | c.801G>C (p.Gly267=) c.636+3570G>C (n.636+3570G>C) | |
| 15 | g.48534141C>T | CA490028675 | FBN1 | c.801G>A (p.Gly267=) c.636+3570G>A (n.636+3570G>A) | |
| 15 | g.48534143del | CA16614839 | FBN1 | c.801del (p.Ser268LeufsTer?) c.636+3570del (n.636+3570del) | ClinVar dbSNP |
| 15 | g.48534144_48534168del | CA1139663904 | FBN1 | c.777_801del (p.Gly260LeufsTer?) c.636+3546_636+3570del (n.636+3546_636+3570del) | ClinVar dbSNP |
| 15 | g.48534142C>A | CA392352552 | FBN1 | c.800G>T (p.Gly267Val) c.636+3569G>T (n.636+3569G>T) | |
| 15 | g.48534142C>G | CA392352553 | FBN1 | c.800G>C (p.Gly267Ala) c.636+3569G>C (n.636+3569G>C) | |
| 15 | g.48534142C>T | CA392352554 | FBN1 | c.800G>A (p.Gly267Glu) c.636+3569G>A (n.636+3569G>A) | |
| 15 | g.48534143C>A | CA392352555 | FBN1 | c.799G>T (p.Gly267Trp) c.636+3568G>T (n.636+3568G>T) | |
| 15 | g.48534143C>G | CA392352558 | FBN1 | c.799G>C (p.Gly267Arg) c.636+3568G>C (n.636+3568G>C) | ClinVar dbSNP |
| 15 | g.48534143C>T | CA392352556 | FBN1 | c.799G>A (p.Gly267Arg) c.636+3568G>A (n.636+3568G>A) | |
| 15 | g.48534144A>C | CA490028676 | FBN1 | c.798T>G (p.Val266=) c.636+3567T>G (n.636+3567T>G) | |
| 15 | g.48534144A>G | CA490028678 | FBN1 | c.798T>C (p.Val266=) c.636+3567T>C (n.636+3567T>C) | |
| 15 | g.48534144A>T | CA490028677 | FBN1 | c.798T>A (p.Val266=) c.636+3567T>A (n.636+3567T>A) | |
| 15 | g.48534145A= | CA2175536897 | FBN1 | c.797T= (p.Val266=) c.636+3566T= (n.636+3566T=) | |
| 15 | g.48534145A>C | CA392352559 | FBN1 | c.797T>G (p.Val266Gly) c.636+3566T>G (n.636+3566T>G) | |
| 15 | g.48534145A>G | CA392352561 | FBN1 | c.797T>C (p.Val266Ala) c.636+3566T>C (n.636+3566T>C) | dbSNP gnomAD v4 |
| 15 | g.48534145A>T | CA392352562 | FBN1 | c.797T>A (p.Val266Asp) c.636+3566T>A (n.636+3566T>A) | |
| 15 | g.48534146C>A | CA392352564 | FBN1 | c.796G>T (p.Val266Phe) c.636+3565G>T (n.636+3565G>T) | ClinVar |
| 15 | g.48534146C= | CA2175536898 | FBN1 | c.796G= (p.Val266=) c.636+3565G= (n.636+3565G=) | |
| 15 | g.48534146C>G | CA392352566 | FBN1 | c.796G>C (p.Val266Leu) c.636+3565G>C (n.636+3565G>C) | gnomAD v4 |
| 15 | g.48534146C>T | CA059396 | FBN1 | c.796G>A (p.Val266Ile) c.636+3565G>A (n.636+3565G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534147del | CA2573150823 | FBN1 | c.795del (p.Val266LeufsTer?) c.636+3564del (n.636+3564del) | ClinVar dbSNP |
| 15 | g.48534147A>C | CA490028681 | FBN1 | c.795T>G (p.Thr265=) c.636+3564T>G (n.636+3564T>G) | |
| 15 | g.48534147A>G | CA490028680 | FBN1 | c.795T>C (p.Thr265=) c.636+3564T>C (n.636+3564T>C) | gnomAD v4 |
| 15 | g.48534147A>T | CA490028679 | FBN1 | c.795T>A (p.Thr265=) c.636+3564T>A (n.636+3564T>A) | |
| 15 | g.48534147_48534148insATAC | CA2695220371 | FBN1 | c.794_795insGTAT (p.Val266TyrfsTer6) c.636+3563_636+3564insGTAT (n.636+3563_636+3564insGTAT) | |
| 15 | g.48534148G>A | CA059360 | FBN1 | c.794C>T (p.Thr265Ile) c.636+3563C>T (n.636+3563C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534148G>C | CA392352574 | FBN1 | c.794C>G (p.Thr265Ser) c.636+3563C>G (n.636+3563C>G) | |
| 15 | g.48534148G= | CA2175536899 | FBN1 | c.794C= (p.Thr265=) c.636+3563C= (n.636+3563C=) | |
| 15 | g.48534148G>T | CA392352577 | FBN1 | c.794C>A (p.Thr265Asn) c.636+3563C>A (n.636+3563C>A) |