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.48497180G= | CA2175521260 | FBN1 | c.2293+86C= (n.2293+86C=) n.967+86C= c.637-22530C= (n.637-22530C=) | |
| 15 | g.48497180G>T | CA2575717421 | FBN1 | c.2293+86C>A (n.2293+86C>A) n.967+86C>A c.637-22530C>A (n.637-22530C>A) | gnomAD v4 |
| 15 | g.48497181C= | CA2175521263 | FBN1 | c.2293+85G= (n.2293+85G=) n.967+85G= c.637-22531G= (n.637-22531G=) | |
| 15 | g.48497181C>T | CA713410175 | FBN1 | c.2293+85G>A (n.2293+85G>A) n.967+85G>A c.637-22531G>A (n.637-22531G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497183_48497185dup | CA2175521262 | FBN1 | c.2293+83_2293+85dup (n.2293+83_2293+85dup) n.967+83_967+85dup c.637-22533_637-22531dup (n.637-22533_637-22531dup) | dbSNP gnomAD v4 |
| 15 | g.48497184C>A | CA2628335348 | FBN1 | c.2293+82G>T (n.2293+82G>T) n.967+82G>T c.637-22534G>T (n.637-22534G>T) | gnomAD v4 |
| 15 | g.48497184C= | CA2175521264 | FBN1 | c.2293+82G= (n.2293+82G=) n.967+82G= c.637-22534G= (n.637-22534G=) | |
| 15 | g.48497184C>G | CA969560282 | FBN1 | c.2293+82G>C (n.2293+82G>C) n.967+82G>C c.637-22534G>C (n.637-22534G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497185T>C | CA2628335349 | FBN1 | c.2293+81A>G (n.2293+81A>G) n.967+81A>G c.637-22535A>G (n.637-22535A>G) | gnomAD v4 |
| 15 | g.48497186C= | CA2175521265 | FBN1 | c.2293+80G= (n.2293+80G=) n.967+80G= c.637-22536G= (n.637-22536G=) | |
| 15 | g.48497186C>T | CA713410176 | FBN1 | c.2293+80G>A (n.2293+80G>A) n.967+80G>A c.637-22536G>A (n.637-22536G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497187A>G | CA2628335350 | FBN1 | c.2293+79T>C (n.2293+79T>C) n.967+79T>C c.637-22537T>C (n.637-22537T>C) | gnomAD v4 |
| 15 | g.48497188A>T | CA2628335351 | FBN1 | c.2293+78T>A (n.2293+78T>A) n.967+78T>A c.637-22538T>A (n.637-22538T>A) | gnomAD v4 |
| 15 | g.48497189A>C | CA2804071603 | FBN1 | c.2293+77T>G (n.2293+77T>G) n.967+77T>G c.637-22539T>G (n.637-22539T>G) | |
| 15 | g.48497191G>A | CA2628335352 | FBN1 | c.2293+75C>T (n.2293+75C>T) n.967+75C>T c.637-22541C>T (n.637-22541C>T) | gnomAD v4 |
| 15 | g.48497191G>C | CA2628335353 | FBN1 | c.2293+75C>G (n.2293+75C>G) n.967+75C>G c.637-22541C>G (n.637-22541C>G) | gnomAD v4 |
| 15 | g.48497191G>T | CA2628335354 | FBN1 | c.2293+75C>A (n.2293+75C>A) n.967+75C>A c.637-22541C>A (n.637-22541C>A) | gnomAD v4 |
| 15 | g.48497194G>A | CA2628335355 | FBN1 | c.2293+72C>T (n.2293+72C>T) n.967+72C>T c.637-22544C>T (n.637-22544C>T) | gnomAD v4 |
| 15 | g.48497196T>C | CA969560284 | FBN1 | c.2293+70A>G (n.2293+70A>G) n.967+70A>G c.637-22546A>G (n.637-22546A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497196T= | CA2175521267 | FBN1 | c.2293+70A= (n.2293+70A=) n.967+70A= c.637-22546A= (n.637-22546A=) | |
| 15 | g.48497197T>C | CA969560286 | FBN1 | c.2293+69A>G (n.2293+69A>G) n.967+69A>G c.637-22547A>G (n.637-22547A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497197T= | CA2175521268 | FBN1 | c.2293+69A= (n.2293+69A=) n.967+69A= c.637-22547A= (n.637-22547A=) | |
| 15 | g.48497199C= | CA2175521269 | FBN1 | c.2293+67G= (n.2293+67G=) n.967+67G= c.637-22549G= (n.637-22549G=) | |
| 15 | g.48497199C>T | CA713410177 | FBN1 | c.2293+67G>A (n.2293+67G>A) n.967+67G>A c.637-22549G>A (n.637-22549G>A) | dbSNP gnomAD v4 |
| 15 | g.48497201C>G | CA2628335356 | FBN1 | c.2293+65G>C (n.2293+65G>C) n.967+65G>C c.637-22551G>C (n.637-22551G>C) | gnomAD v4 |
| 15 | g.48497201C>T | CA2628335357 | FBN1 | c.2293+65G>A (n.2293+65G>A) n.967+65G>A c.637-22551G>A (n.637-22551G>A) | gnomAD v4 |
| 15 | g.48497203C>G | CA2804071604 | FBN1 | c.2293+63G>C (n.2293+63G>C) n.967+63G>C c.637-22553G>C (n.637-22553G>C) | |
| 15 | g.48497204A= | CA2175521270 | FBN1 | c.2293+62T= (n.2293+62T=) n.967+62T= c.637-22554T= (n.637-22554T=) | |
| 15 | g.48497204A>G | CA617838064 | FBN1 | c.2293+62T>C (n.2293+62T>C) n.967+62T>C c.637-22554T>C (n.637-22554T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497205G>C | CA2175521272 | FBN1 | c.2293+61C>G (n.2293+61C>G) n.967+61C>G c.637-22555C>G (n.637-22555C>G) | dbSNP |
| 15 | g.48497205G= | CA2175521271 | FBN1 | c.2293+61C= (n.2293+61C=) n.967+61C= c.637-22555C= (n.637-22555C=) | |
| 15 | g.48497205G>T | CA2628335358 | FBN1 | c.2293+61C>A (n.2293+61C>A) n.967+61C>A c.637-22555C>A (n.637-22555C>A) | gnomAD v4 |
| 15 | g.48497206C>T | CA2628335359 | FBN1 | c.2293+60G>A (n.2293+60G>A) n.967+60G>A c.637-22556G>A (n.637-22556G>A) | gnomAD v4 |
| 15 | g.48497207A>C | CA2628335360 | FBN1 | c.2293+59T>G (n.2293+59T>G) n.967+59T>G c.637-22557T>G (n.637-22557T>G) | gnomAD v4 |
| 15 | g.48497208A= | CA2175521273 | FBN1 | c.2293+58T= (n.2293+58T=) n.967+58T= c.637-22558T= (n.637-22558T=) | |
| 15 | g.48497208A>G | CA269539694 | FBN1 | c.2293+58T>C (n.2293+58T>C) n.967+58T>C c.637-22558T>C (n.637-22558T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497209T>C | CA2628335361 | FBN1 | c.2293+57A>G (n.2293+57A>G) n.967+57A>G c.637-22559A>G (n.637-22559A>G) | gnomAD v4 |
| 15 | g.48497210G= | CA2175521275 | FBN1 | c.2293+56C= (n.2293+56C=) n.967+56C= c.637-22560C= (n.637-22560C=) | |
| 15 | g.48497210G>T | CA2175521276 | FBN1 | c.2293+56C>A (n.2293+56C>A) n.967+56C>A c.637-22560C>A (n.637-22560C>A) | dbSNP |
| 15 | g.48497218G>A | CA047380 | FBN1 | c.2293+48C>T (n.2293+48C>T) n.967+48C>T c.637-22568C>T (n.637-22568C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497218G= | CA2175521277 | FBN1 | c.2293+48C= (n.2293+48C=) n.967+48C= c.637-22568C= (n.637-22568C=) | |
| 15 | g.48497220A>G | CA2628335362 | FBN1 | c.2293+46T>C (n.2293+46T>C) n.967+46T>C c.637-22570T>C (n.637-22570T>C) | gnomAD v4 |
| 15 | g.48497221T>C | CA617838065 | FBN1 | c.2293+45A>G (n.2293+45A>G) n.967+45A>G c.637-22571A>G (n.637-22571A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497221T= | CA2175521278 | FBN1 | c.2293+45A= (n.2293+45A=) n.967+45A= c.637-22571A= (n.637-22571A=) | |
| 15 | g.48497222G>C | CA713410181 | FBN1 | c.2293+44C>G (n.2293+44C>G) n.967+44C>G c.637-22572C>G (n.637-22572C>G) | dbSNP |
| 15 | g.48497222G= | CA2175521279 | FBN1 | c.2293+44C= (n.2293+44C=) n.967+44C= c.637-22572C= (n.637-22572C=) | |
| 15 | g.48497222G>T | CA2628335363 | FBN1 | c.2293+44C>A (n.2293+44C>A) n.967+44C>A c.637-22572C>A (n.637-22572C>A) | gnomAD v4 |
| 15 | g.48497224A= | CA2175521282 | FBN1 | c.2293+42T= (n.2293+42T=) n.967+42T= c.637-22574T= (n.637-22574T=) | |
| 15 | g.48497224A>G | CA617838066 | FBN1 | c.2293+42T>C (n.2293+42T>C) n.967+42T>C c.637-22574T>C (n.637-22574T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497225T>C | CA269539703 | FBN1 | c.2293+41A>G (n.2293+41A>G) n.967+41A>G c.637-22575A>G (n.637-22575A>G) | dbSNP gnomAD v4 |
| 15 | g.48497225T= | CA2175521283 | FBN1 | c.2293+41A= (n.2293+41A=) n.967+41A= c.637-22575A= (n.637-22575A=) | |
| 15 | g.48497226T>C | CA2175521285 | FBN1 | c.2293+40A>G (n.2293+40A>G) n.967+40A>G c.637-22576A>G (n.637-22576A>G) | dbSNP |
| 15 | g.48497226T= | CA2175521284 | FBN1 | c.2293+40A= (n.2293+40A=) n.967+40A= c.637-22576A= (n.637-22576A=) | |
| 15 | g.48497228T>G | CA047374 | FBN1 | c.2293+38A>C (n.2293+38A>C) n.967+38A>C c.637-22578A>C (n.637-22578A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497228T= | CA2175521286 | FBN1 | c.2293+38A= (n.2293+38A=) n.967+38A= c.637-22578A= (n.637-22578A=) | |
| 15 | g.48497230C= | CA2175521287 | FBN1 | c.2293+36G= (n.2293+36G=) n.967+36G= c.637-22580G= (n.637-22580G=) | |
| 15 | g.48497230C>T | CA047365 | FBN1 | c.2293+36G>A (n.2293+36G>A) n.967+36G>A c.637-22580G>A (n.637-22580G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497231del | CA2628335364 | FBN1 | c.2293+35del (n.2293+35del) n.967+35del c.637-22581del (n.637-22581del) | gnomAD v4 |
| 15 | g.48497231A>C | CA2628335365 | FBN1 | c.2293+35T>G (n.2293+35T>G) n.967+35T>G c.637-22581T>G (n.637-22581T>G) | gnomAD v4 |
| 15 | g.48497231_48497233delinsAGG | CA2175521288 | FBN1 | c.2293+33_2293+35delinsCCT (n.2293+33_2293+35delinsCCT) n.967+33_967+35delinsCCT c.637-22583_637-22581delinsCCT (n.637-22583_637-22581delinsCCT) | |
| 15 | g.48497232_48497233del | CA617838067 | FBN1 | c.2293+33_2293+34del (n.2293+33_2293+34del) n.967+33_967+34del c.637-22583_637-22582del (n.637-22583_637-22582del) | dbSNP gnomAD v2 |
| 15 | g.48497233G>A | CA2628335366 | FBN1 | c.2293+33C>T (n.2293+33C>T) n.967+33C>T c.637-22583C>T (n.637-22583C>T) | gnomAD v4 |
| 15 | g.48497233G>C | CA2575717423 | FBN1 | c.2293+33C>G (n.2293+33C>G) n.967+33C>G c.637-22583C>G (n.637-22583C>G) | |
| 15 | g.48497233G= | CA2175521290 | FBN1 | c.2293+33C= (n.2293+33C=) n.967+33C= c.637-22583C= (n.637-22583C=) | |
| 15 | g.48497233G>T | CA2175521291 | FBN1 | c.2293+33C>A (n.2293+33C>A) n.967+33C>A c.637-22583C>A (n.637-22583C>A) | dbSNP |
| 15 | g.48497234C>A | CA2730605198 | FBN1 | c.2293+32G>T (n.2293+32G>T) n.967+32G>T c.637-22584G>T (n.637-22584G>T) | dbSNP |
| 15 | g.48497234C= | CA2175521292 | FBN1 | c.2293+32G= (n.2293+32G=) n.967+32G= c.637-22584G= (n.637-22584G=) | |
| 15 | g.48497234C>T | CA617838068 | FBN1 | c.2293+32G>A (n.2293+32G>A) n.967+32G>A c.637-22584G>A (n.637-22584G>A) | dbSNP gnomAD v2 |
| 15 | g.48497235A= | CA2175521293 | FBN1 | c.2293+31T= (n.2293+31T=) n.967+31T= c.637-22585T= (n.637-22585T=) | |
| 15 | g.48497235A>G | CA2175521294 | FBN1 | c.2293+31T>C (n.2293+31T>C) n.967+31T>C c.637-22585T>C (n.637-22585T>C) | dbSNP |
| 15 | g.48497236A>C | CA2628335367 | FBN1 | c.2293+30T>G (n.2293+30T>G) n.967+30T>G c.637-22586T>G (n.637-22586T>G) | gnomAD v4 |
| 15 | g.48497236A>G | CA2628335368 | FBN1 | c.2293+30T>C (n.2293+30T>C) n.967+30T>C c.637-22586T>C (n.637-22586T>C) | gnomAD v4 |
| 15 | g.48497236_48497237del | CA2575717425 | FBN1 | c.2293+29_2293+30del (n.2293+29_2293+30del) n.967+29_967+30del c.637-22587_637-22586del (n.637-22587_637-22586del) | |
| 15 | g.48497237T>C | CA047358 | FBN1 | c.2293+29A>G (n.2293+29A>G) n.967+29A>G c.637-22587A>G (n.637-22587A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497237T= | CA2175521295 | FBN1 | c.2293+29A= (n.2293+29A=) n.967+29A= c.637-22587A= (n.637-22587A=) | |
| 15 | g.48497238G>A | CA2575717426 | FBN1 | c.2293+28C>T (n.2293+28C>T) n.967+28C>T c.637-22588C>T (n.637-22588C>T) | |
| 15 | g.48497238G>C | CA713410193 | FBN1 | c.2293+28C>G (n.2293+28C>G) n.967+28C>G c.637-22588C>G (n.637-22588C>G) | dbSNP |
| 15 | g.48497238G= | CA2175521297 | FBN1 | c.2293+28C= (n.2293+28C=) n.967+28C= c.637-22588C= (n.637-22588C=) | |
| 15 | g.48497238G>T | CA2628335369 | FBN1 | c.2293+28C>A (n.2293+28C>A) n.967+28C>A c.637-22588C>A (n.637-22588C>A) | gnomAD v4 |
| 15 | g.48497239T>C | CA047344 | FBN1 | c.2293+27A>G (n.2293+27A>G) n.967+27A>G c.637-22589A>G (n.637-22589A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497239T= | CA2175521298 | FBN1 | c.2293+27A= (n.2293+27A=) n.967+27A= c.637-22589A= (n.637-22589A=) | |
| 15 | g.48497241T>A | CA617838069 | FBN1 | c.2293+25A>T (n.2293+25A>T) n.967+25A>T c.637-22591A>T (n.637-22591A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497241T= | CA2175521299 | FBN1 | c.2293+25A= (n.2293+25A=) n.967+25A= c.637-22591A= (n.637-22591A=) | |
| 15 | g.48497243A>C | CA2628335370 | FBN1 | c.2293+23T>G (n.2293+23T>G) n.967+23T>G c.637-22593T>G (n.637-22593T>G) | gnomAD v4 |
| 15 | g.48497244G>C | CA2628335371 | FBN1 | c.2293+22C>G (n.2293+22C>G) n.967+22C>G c.637-22594C>G (n.637-22594C>G) | gnomAD v4 |
| 15 | g.48497247A>G | CA2730873977 | FBN1 | c.2293+19T>C (n.2293+19T>C) n.967+19T>C c.637-22597T>C (n.637-22597T>C) | dbSNP |
| 15 | g.48497249T>C | CA269539754 | FBN1 | c.2293+17A>G (n.2293+17A>G) n.967+17A>G c.637-22599A>G (n.637-22599A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497249T= | CA2175521300 | FBN1 | c.2293+17A= (n.2293+17A=) n.967+17A= c.637-22599A= (n.637-22599A=) | |
| 15 | g.48497250G>C | CA047339 | FBN1 | c.2293+16C>G (n.2293+16C>G) n.967+16C>G c.637-22600C>G (n.637-22600C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497250G= | CA2175521302 | FBN1 | c.2293+16C= (n.2293+16C=) n.967+16C= c.637-22600C= (n.637-22600C=) | |
| 15 | g.48497252del | CA2628335372 | FBN1 | c.2293+16del (n.2293+16del) n.967+16del c.637-22600del (n.637-22600del) | gnomAD v4 |
| 15 | g.48497251G>A | CA2740096664 | FBN1 | c.2293+15C>T (n.2293+15C>T) n.967+15C>T c.637-22601C>T (n.637-22601C>T) | ClinVar |
| 15 | g.48497251G>C | CA2628335373 | FBN1 | c.2293+15C>G (n.2293+15C>G) n.967+15C>G c.637-22601C>G (n.637-22601C>G) | gnomAD v4 |
| 15 | g.48497252G= | CA2175521303 | FBN1 | c.2293+14C= (n.2293+14C=) n.967+14C= c.637-22602C= (n.637-22602C=) | |
| 15 | g.48497252G>T | CA047327 | FBN1 | c.2293+14C>A (n.2293+14C>A) n.967+14C>A c.637-22602C>A (n.637-22602C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497254A>G | CA2730873980 | FBN1 | c.2293+12T>C (n.2293+12T>C) n.967+12T>C c.637-22604T>C (n.637-22604T>C) | dbSNP |
| 15 | g.48497258C>A | CA713410199 | FBN1 | c.2293+8G>T (n.2293+8G>T) n.967+8G>T c.637-22608G>T (n.637-22608G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497258C= | CA2175521304 | FBN1 | c.2293+8G= (n.2293+8G=) n.967+8G= c.637-22608G= (n.637-22608G=) | |
| 15 | g.48497258C>T | CA2580089651 | FBN1 | c.2293+8G>A (n.2293+8G>A) n.967+8G>A c.637-22608G>A (n.637-22608G>A) | ClinVar |
| 15 | g.48497260_48497262del | CA2575717429 | FBN1 | c.2293+6_2293+8del (n.2293+6_2293+8del) n.967+6_967+8del c.637-22610_637-22608del (n.637-22610_637-22608del) | |
| 15 | g.48497259T>A | CA2175521305 | FBN1 | c.2293+7A>T (n.2293+7A>T) n.967+7A>T c.637-22609A>T (n.637-22609A>T) | dbSNP |
| 15 | g.48497259T= | CA2175521306 | FBN1 | c.2293+7A= (n.2293+7A=) n.967+7A= c.637-22609A= (n.637-22609A=) | |
| 15 | g.48497261C= | CA2175521308 | FBN1 | c.2293+5G= (n.2293+5G=) n.967+5G= c.637-22611G= (n.637-22611G=) | |
| 15 | g.48497261C>G | CA2695220739 | FBN1 | c.2293+5G>C (n.2293+5G>C) n.967+5G>C c.637-22611G>C (n.637-22611G>C) | |
| 15 | g.48497261C>T | CA012929 | FBN1 | c.2293+5G>A (n.2293+5G>A) n.967+5G>A c.637-22611G>A (n.637-22611G>A) | ClinVar dbSNP |
| 15 | g.48497264A>C | CA392335570 | FBN1 | c.2293+2T>G (n.2293+2T>G) n.967+2T>G c.637-22614T>G (n.637-22614T>G) | |
| 15 | g.48497264A>G | CA392335571 | FBN1 | c.2293+2T>C (n.2293+2T>C) n.967+2T>C c.637-22614T>C (n.637-22614T>C) | |
| 15 | g.48497264A>T | CA392335572 | FBN1 | c.2293+2T>A (n.2293+2T>A) n.967+2T>A c.637-22614T>A (n.637-22614T>A) | |
| 15 | g.48497265C>A | CA392335573 | FBN1 | c.2293+1G>T (n.2293+1G>T) n.967+1G>T c.637-22615G>T (n.637-22615G>T) | |
| 15 | g.48497265C= | CA2175521310 | FBN1 | c.2293+1G= (n.2293+1G=) n.967+1G= c.637-22615G= (n.637-22615G=) | |
| 15 | g.48497265C>G | CA392335574 | FBN1 | c.2293+1G>C (n.2293+1G>C) n.967+1G>C c.637-22615G>C (n.637-22615G>C) | ClinVar dbSNP |
| 15 | g.48497265C>T | CA16614665 | FBN1 | c.2293+1G>A (n.2293+1G>A) n.967+1G>A c.637-22615G>A (n.637-22615G>A) | ClinVar dbSNP |
| 15 | g.48497266C>A | CA392335577 | FBN1 | c.2293G>T (p.Asp765Tyr) n.967G>T c.637-22616G>T (n.637-22616G>T) | |
| 15 | g.48497266C= | CA2175521312 | FBN1 | c.2293G= (p.Asp765=) n.967G= c.637-22616G= (n.637-22616G=) | |
| 15 | g.48497266C>G | CA392335576 | FBN1 | c.2293G>C (p.Asp765His) n.967G>C c.637-22616G>C (n.637-22616G>C) | |
| 15 | g.48497266C>T | CA392335575 | FBN1 | c.2293G>A (p.Asp765Asn) n.967G>A c.637-22616G>A (n.637-22616G>A) | ClinVar dbSNP |
| 15 | g.48497267A>C | CA490023586 | FBN1 | c.2292T>G (p.Val764=) n.966T>G c.637-22617T>G (n.637-22617T>G) | |
| 15 | g.48497267A>G | CA490023584 | FBN1 | c.2292T>C (p.Val764=) n.966T>C c.637-22617T>C (n.637-22617T>C) | |
| 15 | g.48497267A>T | CA490023585 | FBN1 | c.2292T>A (p.Val764=) n.966T>A c.637-22617T>A (n.637-22617T>A) | |
| 15 | g.48497268del | CA2573150827 | FBN1 | c.2292del (p.Asp765IlefsTer7) n.966del c.637-22617del (n.637-22617del) | ClinVar dbSNP |
| 15 | g.48497268A= | CA2175521314 | FBN1 | c.2291T= (p.Val764=) n.965T= c.637-22618T= (n.637-22618T=) | |
| 15 | g.48497268A>C | CA392335578 | FBN1 | c.2291T>G (p.Val764Gly) n.965T>G c.637-22618T>G (n.637-22618T>G) | |
| 15 | g.48497268A>G | CA047321 | FBN1 | c.2291T>C (p.Val764Ala) n.965T>C c.637-22618T>C (n.637-22618T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497268A>T | CA392335579 | FBN1 | c.2291T>A (p.Val764Asp) n.965T>A c.637-22618T>A (n.637-22618T>A) | |
| 15 | g.48497269C>A | CA392335580 | FBN1 | c.2290G>T (p.Val764Phe) n.964G>T c.637-22619G>T (n.637-22619G>T) | ClinVar gnomAD v4 |
| 15 | g.48497269C= | CA2175521317 | FBN1 | c.2290G= (p.Val764=) n.964G= c.637-22619G= (n.637-22619G=) | |
| 15 | g.48497269C>G | CA392335581 | FBN1 | c.2290G>C (p.Val764Leu) n.964G>C c.637-22619G>C (n.637-22619G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497269C>T | CA047304 | FBN1 | c.2290G>A (p.Val764Ile) n.964G>A c.637-22619G>A (n.637-22619G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48497270G>A | CA047257 | FBN1 | c.2289C>T (p.Cys763=) n.963C>T c.637-22620C>T (n.637-22620C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497270G>C | CA392335582 | FBN1 | c.2289C>G (p.Cys763Trp) n.963C>G c.637-22620C>G (n.637-22620C>G) | ClinVar dbSNP |
| 15 | g.48497270G= | CA2175521319 | FBN1 | c.2289C= (p.Cys763=) n.963C= c.637-22620C= (n.637-22620C=) | |
| 15 | g.48497270G>T | CA392335583 | FBN1 | c.2289C>A (p.Cys763Ter) n.963C>A c.637-22620C>A (n.637-22620C>A) | ClinVar |
| 15 | g.48497271C>A | CA392335584 | FBN1 | c.2288G>T (p.Cys763Phe) n.962G>T c.637-22621G>T (n.637-22621G>T) | COSMIC |
| 15 | g.48497271C>G | CA392335585 | FBN1 | c.2288G>C (p.Cys763Ser) n.962G>C c.637-22621G>C (n.637-22621G>C) | |
| 15 | g.48497271C>T | CA392335586 | FBN1 | c.2288G>A (p.Cys763Tyr) n.962G>A c.637-22621G>A (n.637-22621G>A) | |
| 15 | g.48497272A= | CA2175521322 | FBN1 | c.2287T= (p.Cys763=) n.961T= c.637-22622T= (n.637-22622T=) | |
| 15 | g.48497272A>C | CA392335588 | FBN1 | c.2287T>G (p.Cys763Gly) n.961T>G c.637-22622T>G (n.637-22622T>G) | ClinVar dbSNP |
| 15 | g.48497272A>G | CA392335589 | FBN1 | c.2287T>C (p.Cys763Arg) n.961T>C c.637-22622T>C (n.637-22622T>C) | ClinVar dbSNP |
| 15 | g.48497272A>T | CA392335587 | FBN1 | c.2287T>A (p.Cys763Ser) n.961T>A c.637-22622T>A (n.637-22622T>A) | |
| 15 | g.48497273G>A | CA490023587 | FBN1 | c.2286C>T (p.Asn762=) n.960C>T c.637-22623C>T (n.637-22623C>T) | |
| 15 | g.48497273G>C | CA392335590 | FBN1 | c.2286C>G (p.Asn762Lys) n.960C>G c.637-22623C>G (n.637-22623C>G) | ClinVar dbSNP |
| 15 | g.48497273G= | CA2175521324 | FBN1 | c.2286C= (p.Asn762=) n.960C= c.637-22623C= (n.637-22623C=) | |
| 15 | g.48497273G>T | CA392335591 | FBN1 | c.2286C>A (p.Asn762Lys) n.960C>A c.637-22623C>A (n.637-22623C>A) | |
| 15 | g.48497274T>A | CA392335592 | FBN1 | c.2285A>T (p.Asn762Ile) n.959A>T c.637-22624A>T (n.637-22624A>T) | |
| 15 | g.48497274T>C | CA392335593 | FBN1 | c.2285A>G (p.Asn762Ser) n.959A>G c.637-22624A>G (n.637-22624A>G) | |
| 15 | g.48497274T>G | CA392335594 | FBN1 | c.2285A>C (p.Asn762Thr) n.959A>C c.637-22624A>C (n.637-22624A>C) | |
| 15 | g.48497274_48497275insC | CA2695220740 | FBN1 | c.2284_2285insG (p.Asn762ArgfsTer4) n.958_959insG c.637-22625_637-22624insG (n.637-22625_637-22624insG) | |
| 15 | g.48497275T>A | CA392335597 | FBN1 | c.2284A>T (p.Asn762Tyr) n.958A>T c.637-22625A>T (n.637-22625A>T) | |
| 15 | g.48497275T>C | CA392335595 | FBN1 | c.2284A>G (p.Asn762Asp) n.958A>G c.637-22625A>G (n.637-22625A>G) | |
| 15 | g.48497275T>G | CA392335596 | FBN1 | c.2284A>C (p.Asn762His) n.958A>C c.637-22625A>C (n.637-22625A>C) | |
| 15 | g.48497276T>A | CA392335598 | FBN1 | c.2283A>T (p.Lys761Asn) n.957A>T c.637-22626A>T (n.637-22626A>T) | |
| 15 | g.48497276T>C | CA490023588 | FBN1 | c.2283A>G (p.Lys761=) n.957A>G c.637-22626A>G (n.637-22626A>G) | ClinVar dbSNP gnomAD v2 |
| 15 | g.48497276T>G | CA392335599 | FBN1 | c.2283A>C (p.Lys761Asn) n.957A>C c.637-22626A>C (n.637-22626A>C) | |
| 15 | g.48497276T= | CA2175521326 | FBN1 | c.2283A= (p.Lys761=) n.957A= c.637-22626A= (n.637-22626A=) | |
| 15 | g.48497277T>A | CA392335600 | FBN1 | c.2282A>T (p.Lys761Ile) n.956A>T c.637-22627A>T (n.637-22627A>T) | |
| 15 | g.48497277T>C | CA392335601 | FBN1 | c.2282A>G (p.Lys761Arg) n.956A>G c.637-22627A>G (n.637-22627A>G) | |
| 15 | g.48497277T>G | CA392335602 | FBN1 | c.2282A>C (p.Lys761Thr) n.956A>C c.637-22627A>C (n.637-22627A>C) | |
| 15 | g.48497278T>A | CA392335603 | FBN1 | c.2281A>T (p.Lys761Ter) n.955A>T c.637-22628A>T (n.637-22628A>T) | |
| 15 | g.48497278T>C | CA392335605 | FBN1 | c.2281A>G (p.Lys761Glu) n.955A>G c.637-22628A>G (n.637-22628A>G) | |
| 15 | g.48497278T>G | CA392335604 | FBN1 | c.2281A>C (p.Lys761Gln) n.955A>C c.637-22628A>C (n.637-22628A>C) | |
| 15 | g.48497279C>A | CA490023589 | FBN1 | c.2280G>T (p.Gly760=) n.954G>T c.637-22629G>T (n.637-22629G>T) | |
| 15 | g.48497279C= | CA2175521328 | FBN1 | c.2280G= (p.Gly760=) n.954G= c.637-22629G= (n.637-22629G=) | |
| 15 | g.48497279C>G | CA490023590 | FBN1 | c.2280G>C (p.Gly760=) n.954G>C c.637-22629G>C (n.637-22629G>C) | |
| 15 | g.48497279C>T | CA490023591 | FBN1 | c.2280G>A (p.Gly760=) n.954G>A c.637-22629G>A (n.637-22629G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497281del | CA2695220741 | FBN1 | c.2280del (p.Asn762ThrfsTer10) n.954del c.637-22629del (n.637-22629del) | |
| 15 | g.48497280C>A | CA392335606 | FBN1 | c.2279G>T (p.Gly760Val) n.953G>T c.637-22630G>T (n.637-22630G>T) | |
| 15 | g.48497280C>G | CA392335607 | FBN1 | c.2279G>C (p.Gly760Ala) n.953G>C c.637-22630G>C (n.637-22630G>C) | |
| 15 | g.48497280C>T | CA392335608 | FBN1 | c.2279G>A (p.Gly760Glu) n.953G>A c.637-22630G>A (n.637-22630G>A) | ClinVar dbSNP COSMIC |