15 | g.80152408A= | CA2190326240 | | | |
15 | g.80152408A>C | CA2629872328 | | | gnomAD v4 |
15 | g.80152408A>T | CA274010573 | | | dbSNP |
15 | g.80152409G>A | CA2190326244 | | | dbSNP |
15 | g.80152409G= | CA2190326241 | | | |
15 | g.80152409G>T | CA2629872329 | | | gnomAD v4 |
15 | g.80152410C>A | CA2190326247 | | | dbSNP |
15 | g.80152410C= | CA2190326245 | | | |
15 | g.80152410C>T | CA2629872330 | | | gnomAD v4 |
15 | g.80152411T>C | CA2629872331 | | | gnomAD v4 |
15 | g.80152412G>A | CA2629872332 | | | gnomAD v4 |
15 | g.80152412G= | CA2190326250 | | | |
15 | g.80152412G>T | CA716102292 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152413C>A | CA2190326258 | | | dbSNP |
15 | g.80152413C= | CA2190326253 | | | |
15 | g.80152413C>T | CA274010575 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152416dup | CA2629872333 | | | gnomAD v4 |
15 | g.80152414C>A | CA2629872334 | | | gnomAD v4 |
15 | g.80152414C= | CA2190326264 | | | |
15 | g.80152414C>T | CA971892769 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152415C>A | CA2629872335 | | | gnomAD v4 |
15 | g.80152415C= | CA2190326267 | | | |
15 | g.80152415C>G | CA971892774 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152416C>A | CA2629872337 | | | gnomAD v4 |
15 | g.80152416C= | CA2190326273 | | | |
15 | g.80152416C>G | CA716102299 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152416C>T | CA2629872336 | | | gnomAD v4 |
15 | g.80152417G>A | CA274010576 | | | dbSNP gnomAD v4 |
15 | g.80152417G>C | CA2804914965 | | | |
15 | g.80152417G= | CA2190326274 | | | |
15 | g.80152417G>T | CA2629872338 | | | gnomAD v4 |
15 | g.80152418A>C | CA2629872339 | | | gnomAD v4 |
15 | g.80152419G>C | CA2190326277 | | | dbSNP |
15 | g.80152419G= | CA2190326276 | | | |
15 | g.80152419G>T | CA2629872340 | | | gnomAD v4 |
15 | g.80152420C>A | CA2190326281 | | | dbSNP gnomAD v4 |
15 | g.80152420C= | CA2190326280 | | | |
15 | g.80152420C>G | CA274010577 | | | dbSNP |
15 | g.80152420C>T | CA2629872341 | | | gnomAD v4 |
15 | g.80152421G>A | CA2629872343 | | | gnomAD v4 |
15 | g.80152421G>C | CA716102306 | | | dbSNP gnomAD v4 |
15 | g.80152421G= | CA2190326292 | | | |
15 | g.80152421G>T | CA274010585 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152425dup | CA716102304 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152425del | CA2629872342 | | | gnomAD v4 |
15 | g.80152422G>A | CA2629872344 | | | gnomAD v4 |
15 | g.80152422G>C | CA2629872345 | | | gnomAD v4 |
15 | g.80152422G>T | CA2629872346 | | | gnomAD v4 |
15 | g.80152423G>A | CA716102308 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152423G= | CA2190326297 | | | |
15 | g.80152423G>T | CA2629872347 | | | gnomAD v4 |
15 | g.80152424G>A | CA619266116 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152424G= | CA2190326301 | | | |
15 | g.80152424G>T | CA2629872348 | | | gnomAD v4 |
15 | g.80152425G>A | CA716102311 | | | dbSNP gnomAD v4 |
15 | g.80152425G= | CA2190326315 | | | |
15 | g.80152425G>T | CA619266117 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152426C>G | CA2629872349 | | | gnomAD v4 |
15 | g.80152426C>T | CA2629872350 | | | gnomAD v4 |
15 | g.80152427T>C | CA2629872351 | | | gnomAD v4 |
15 | g.80152427T>G | CA619266118 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152427T= | CA2190326319 | | | |
15 | g.80152428G>A | CA2629872353 | | | gnomAD v4 |
15 | g.80152428G>T | CA2629872352 | | | gnomAD v4 |
15 | g.80152429G>A | CA2629872354 | | | gnomAD v4 |
15 | g.80152429G>T | CA2629872355 | | | gnomAD v4 |
15 | g.80152430A>C | CA2629872356 | | | gnomAD v4 |
15 | g.80152430A>G | CA2629872357 | | | gnomAD v4 |
15 | g.80152431A>C | CA2629872358 | | | gnomAD v4 |
15 | g.80152431_80152432delinsAC | CA2190326322 | | | |
15 | g.80152432C>G | CA2629872359 | | | gnomAD v4 |
15 | g.80152433del | CA971892784 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152433C= | CA2190326324 | | | |
15 | g.80152433C>G | CA2190326326 | | | dbSNP |
15 | g.80152434A>C | CA2629872360 | | | gnomAD v4 |
15 | g.80152435G>C | CA2190326332 | | | dbSNP |
15 | g.80152435G= | CA2190326329 | | | |
15 | g.80152435G>T | CA2629872361 | | | gnomAD v4 |
15 | g.80152436A= | CA2190326333 | | | |
15 | g.80152436A>G | CA2190326334 | | | dbSNP |
15 | g.80152437T>C | CA2629872362 | | | gnomAD v4 |
15 | g.80152437T>G | CA2629872363 | | | gnomAD v4 |
15 | g.80152438C>A | CA971892785 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152438C= | CA2190326339 | | | |
15 | g.80152438C>T | CA2629872364 | | | gnomAD v4 |
15 | g.80152438_80152439delinsCT | CA2190326336 | | | |
15 | g.80152439del | CA274010590 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152439T>C | CA2190326349 | | | dbSNP |
15 | g.80152439T>G | CA2546628206 | | | |
15 | g.80152439T= | CA2190326345 | | | |
15 | g.80152439_80152440insTCCCCCCCCCCCCCCCC | CA2629872365 | | | gnomAD v4 |
15 | g.80152440C= | CA2190326353 | | | |
15 | g.80152440C>G | CA2190326356 | | | dbSNP |
15 | g.80152440C>T | CA16510905 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152444del | CA2629872366 | | | gnomAD v4 |
15 | g.80152441C>A | CA2190326367 | | | dbSNP gnomAD v4 |
15 | g.80152441C= | CA2190326369 | | | |
15 | g.80152442C>A | CA2629872367 | | | gnomAD v4 |
15 | g.80152442C= | CA2190326372 | | | |
15 | g.80152442C>T | CA2190326373 | | | dbSNP gnomAD v4 |
15 | g.80152443C= | CA2190326374 | | | |
15 | g.80152443C>T | CA2190326375 | | | dbSNP |
15 | g.80152444C>A | CA274010599 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152444C= | CA2190326378 | | | |
15 | g.80152444C>G | CA716102318 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152444C>T | CA716102321 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152445A>C | CA2629872368 | | | gnomAD v4 |
15 | g.80152446C>A | CA274010602 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152446C= | CA2190326383 | | | |
15 | g.80152446C>G | CA2629872370 | | | gnomAD v4 |
15 | g.80152446C>T | CA2629872369 | | | gnomAD v4 |
15 | g.80152447G>A | CA2629872372 | | | gnomAD v4 |
15 | g.80152447G>C | CA2629872373 | | | gnomAD v4 |
15 | g.80152447G= | CA2190326386 | | | |
15 | g.80152447G>T | CA2190326387 | | | dbSNP |
15 | g.80152447_80152451del | CA2629872371 | | | gnomAD v4 |
15 | g.80152448T>C | CA2629872374 | | | gnomAD v4 |
15 | g.80152448T>G | CA2190326391 | | | dbSNP gnomAD v4 |
15 | g.80152448T= | CA2190326390 | | | |
15 | g.80152449G>A | CA2629872375 | | | gnomAD v4 |
15 | g.80152449G>C | CA2731514643 | | | dbSNP |
15 | g.80152449G>T | CA2629872376 | | | gnomAD v4 |
15 | g.80152450G>A | CA716102322 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152450G= | CA2190326392 | | | |
15 | g.80152450G>T | CA2629872377 | | | gnomAD v4 |
15 | g.80152451A>G | CA2629872378 | | | gnomAD v4 |
15 | g.80152452C>A | CA716102323 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152452C= | CA2190326398 | | | |
15 | g.80152453T>C | CA2629872379 | | | gnomAD v4 |
15 | g.80152454C>A | CA2629872380 | | | gnomAD v4 |
15 | g.80152455G>C | CA2629872381 | | | gnomAD v4 |
15 | g.80152456C>A | CA2629872382 | | | gnomAD v4 |
15 | g.80152456C= | CA2190326400 | | | |
15 | g.80152456C>G | CA2190326401 | | | dbSNP |
15 | g.80152456C>T | CA2190326402 | | | dbSNP gnomAD v4 |
15 | g.80152459_80152479del | CA2524196436 | | | |
15 | g.80152457G>A | CA2629872384 | | | gnomAD v4 |
15 | g.80152457G>T | CA2629872385 | | | gnomAD v4 |
15 | g.80152458_80152469del | CA2629872383 | | | gnomAD v4 |
15 | g.80152458G>C | CA2629872386 | | | gnomAD v4 |
15 | g.80152458G>T | CA2629872387 | | | gnomAD v4 |
15 | g.80152459A>C | CA2629872388 | | | gnomAD v4 |
15 | g.80152459A>G | CA2629872389 | | | gnomAD v4 |
15 | g.80152460C>A | CA2629872390 | | | gnomAD v4 |
15 | g.80152460C= | CA2190326405 | | | |
15 | g.80152460C>T | CA2190326406 | | | dbSNP |
15 | g.80152461A= | CA2190326409 | | | |
15 | g.80152461A>C | CA2629872391 | | | gnomAD v4 |
15 | g.80152461A>G | CA2190326411 | | | dbSNP gnomAD v4 |
15 | g.80152461A>T | CA2629872392 | | | gnomAD v4 |
15 | g.80152466_80152532del | CA2804914970 | | | |
15 | g.80152462G>A | CA2629872393 | | | gnomAD v4 |
15 | g.80152462G>C | CA2190326417 | | | dbSNP |
15 | g.80152462G= | CA2190326414 | | | |
15 | g.80152462G>T | CA2629872394 | | | gnomAD v4 |
15 | g.80152470_80152487del | CA2804914973 | | | |
15 | g.80152470_80152504del | CA971892792 | | | gnomAD v3 gnomAD v4 |
15 | g.80152470_80152571del | CA971892794 | | | gnomAD v3 gnomAD v4 |
15 | g.80152463G>T | CA2629872395 | | | gnomAD v4 |
15 | g.80152464G>A | CA2629872396 | | | gnomAD v4 |
15 | g.80152464G>C | CA971892801 | | | gnomAD v3 gnomAD v4 |
15 | g.80152464G= | CA2190326420 | | | |
15 | g.80152464G>T | CA716102324 | | | dbSNP gnomAD v4 |
15 | g.80152465del | CA2629872397 | | | gnomAD v4 |
15 | g.80152465C>A | CA716102325 | | | dbSNP gnomAD v4 |
15 | g.80152465C= | CA2190326429 | | | |
15 | g.80152465C>G | CA2190326425 | | | dbSNP gnomAD v4 |
15 | g.80152465C>T | CA2190326426 | | | dbSNP gnomAD v4 |
15 | g.80152466G>A | CA971892806 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152466G= | CA2190326434 | | | |
15 | g.80152466G>T | CA2629872398 | | | gnomAD v4 |
15 | g.80152469del | CA2731514648 | | | dbSNP |
15 | g.80152467G>A | CA2629872399 | | | gnomAD v4 |
15 | g.80152467G>T | CA971892810 | | | gnomAD v3 gnomAD v4 |
15 | g.80152468G>A | CA619266119 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152468G= | CA2190326440 | | | |
15 | g.80152468G>T | CA716102327 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152469G>A | CA2629872400 | | | gnomAD v4 |
15 | g.80152469G>C | CA971892818 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152469G= | CA2190326442 | | | |
15 | g.80152469G>T | CA2523056628 | | | |
15 | g.80152470A>C | CA971892824 | | | gnomAD v3 gnomAD v4 |
15 | g.80152470A>G | CA2629872401 | | | gnomAD v4 |
15 | g.80152471T>C | CA2190326447 | | | dbSNP gnomAD v4 |
15 | g.80152471T>G | CA2629872402 | | | gnomAD v4 |
15 | g.80152471T= | CA2190326445 | | | |
15 | g.80152476_80152577del | CA971892841 | | | gnomAD v3 gnomAD v4 |
15 | g.80152472C>A | CA2629872403 | | | gnomAD v4 |
15 | g.80152472_80152483dup | CA619266120 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152473A>G | CA2629872404 | | | gnomAD v4 |
15 | g.80152473A>T | CA2596753411 | | | gnomAD v3 gnomAD v4 |
15 | g.80152474G>A | CA619266121 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152474G= | CA2190326451 | | | |
15 | g.80152474G>T | CA2629872405 | | | gnomAD v4 |
15 | g.80152475G>A | CA2629872406 | | | gnomAD v4 |
15 | g.80152475G>C | CA971892852 | | | gnomAD v3 gnomAD v4 |
15 | g.80152475G= | CA2190326453 | | | |
15 | g.80152475G>T | CA716102331 | | | dbSNP |
15 | g.80152476A= | CA2190326456 | | | |
15 | g.80152476A>C | CA716102333 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152495_80152779del | CA2804914975 | | | |
15 | g.80152477C>A | CA971892855 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152477C= | CA2190326459 | | | |
15 | g.80152477C>G | CA2190326462 | | | dbSNP |
15 | g.80152477C>T | CA971892857 | | | gnomAD v3 gnomAD v4 |
15 | g.80152482_80152487del | CA2629872407 | | | gnomAD v4 |
15 | g.80152478G>A | CA971892865 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152478G= | CA2190326468 | | | |
15 | g.80152478G>T | CA2629872409 | | | gnomAD v4 |
15 | g.80152482del | CA2629872408 | | | gnomAD v4 |
15 | g.80152480_80152546del | CA2507797179 | | | |
15 | g.80152478_80152561del | CA971892863 | | | gnomAD v3 gnomAD v4 |
15 | g.80152479G>A | CA971892870 | | | gnomAD v3 gnomAD v4 |
15 | g.80152479G>T | CA2629872410 | | | gnomAD v4 |
15 | g.80152484_80152488del | CA971892879 | | | gnomAD v3 gnomAD v4 |
15 | g.80152489_80152505del | CA971892874 | | | gnomAD v3 gnomAD v4 |
15 | g.80152489_80152572del | CA971892881 | | | gnomAD v3 gnomAD v4 |
15 | g.80152489_80152638del | CA971892872 | | | gnomAD v3 gnomAD v4 |
15 | g.80152489_80152655del | CA971892871 | | | gnomAD v3 gnomAD v4 |
15 | g.80152480G>A | CA971892883 | | | gnomAD v3 gnomAD v4 |
15 | g.80152480G>T | CA2804914978 | | | |
15 | g.80152480_80152613delinsGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA | CA2190326472 | | | |
15 | g.80152481G>C | CA2629872411 | | | gnomAD v4 |
15 | g.80152481_80152483delinsGGC | CA2190326473 | | | |
15 | g.80152489_80152621del | CA971892884 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152482G>A | CA971892889 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152482G>C | CA971892891 | | | gnomAD v3 gnomAD v4 |
15 | g.80152482G= | CA2190326477 | | | |
15 | g.80152482G>T | CA971892897 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152483_80152484del | CA274010625 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152482_80152505del | CA971892888 | | | gnomAD v3 gnomAD v4 |
15 | g.80152482_80152549del | CA2629872412 | | | gnomAD v4 |
15 | g.80152483C>A | CA716102337 | | | dbSNP gnomAD v4 |
15 | g.80152483C= | CA2190326482 | | | |
15 | g.80152483C>G | CA716102339 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152483C>T | CA971892903 | | | gnomAD v3 gnomAD v4 |
15 | g.80152487_80152554del | CA2804914979 | | | |
15 | g.80152484G>A | CA716102341 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152484G>C | CA971892906 | | | gnomAD v3 gnomAD v4 |
15 | g.80152484G= | CA2190326491 | | | |
15 | g.80152484G>T | CA2629872413 | | | gnomAD v4 |
15 | g.80152485G>A | CA2629872414 | | | gnomAD v4 |
15 | g.80152508_80152574del | CA619266122 | | | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152486G>A | CA2629872415 | | | gnomAD v4 |
15 | g.80152486G= | CA2190326495 | | | |
15 | g.80152486G>T | CA2190326497 | | | dbSNP gnomAD v4 |
15 | g.80152486_80152487insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCC | CA2565283627 | | | |
15 | g.80152487G>A | CA2629872416 | | | gnomAD v4 |
15 | g.80152487G>C | CA2629872417 | | | gnomAD v4 |
15 | g.80152487G= | CA2190326500 | | | |
15 | g.80152487G>T | CA2629872418 | | | gnomAD v4 |
15 | g.80152487_80152488del | CA971892907 | | | gnomAD v3 gnomAD v4 |
15 | g.80152487_80152488insTGT | CA971892909 | | | gnomAD v3 gnomAD v4 |
15 | g.80152487_80152488insTGTT | CA971892910 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152487_80152488insTGTTCACGGTGAGA | CA2544407237 | | | gnomAD v3 gnomAD v4 |
15 | g.80152488C>A | CA2629872420 | | | gnomAD v4 |
15 | g.80152488C= | CA2190326505 | | | |
15 | g.80152488C>T | CA971892912 | | | gnomAD v3 gnomAD v4 |
15 | g.80152488_80152489del | CA2629872419 | | | gnomAD v4 |
15 | g.80152489del | CA971892911 | | | gnomAD v3 gnomAD v4 |
15 | g.80152488_80152489insT | CA971892921 | | | gnomAD v3 gnomAD v4 |
15 | g.80152488_80152489insACGGTGAGACCAAAAGT | CA971892917 | | | gnomAD v3 gnomAD v4 |
15 | g.80152489C>A | CA971892932 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152489C= | CA2190326514 | | | |
15 | g.80152489C>G | CA971892939 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152489C>T | CA971892940 | | | gnomAD v3 gnomAD v4 |
15 | g.80152489_80152490insGGGCCTGACCAC | CA971892920 | | | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152489_80152493del | CA971892923 | | | gnomAD v3 gnomAD v4 |
15 | g.80152494_80152578del | CA971892926 | | | gnomAD v3 gnomAD v4 |
15 | g.80152489_80152639delinsCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG | CA2190326520 | | | |
15 | g.80152489_80152708delinsCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCA | CA2190326523 | | | |
15 | g.80152489_80152490insGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT | CA971892965 | FAH | c.-85-1_-85insGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT (n.-85-1_-85insGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTT)
| gnomAD v3 gnomAD v4 |
15 | g.80152490A= | CA2190326528 | FAH | c.-85A= (n.-85A=)
| |
15 | g.80152490A>C | CA971892954 | FAH | c.-85A>C (n.-85A>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152490A>G | CA716102344 | FAH | c.-85A>G (n.-85A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152490A>T | CA971892948 | FAH | c.-85A>T (n.-85A>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152506_80152638del | CA2596753418 | FAH | c.-69_-30+93del
| gnomAD v3 gnomAD v4 |
15 | g.80152508_80152657del | CA971892957 | FAH | c.-67_-30+112del
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152508_80152726del | CA971892971 | FAH | c.-67_-30+181del
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152490_80152491insAAAGTCAGGTAGGAGCCTCCGGGGTCCCT | CA2596753420 | FAH | c.-85_-84insAAAGTCAGGTAGGAGCCTCCGGGGTCCCT (n.-85_-84insAAAGTCAGGTAGGAGCCTCCGGGGTCCCT)
| gnomAD v3 gnomAD v4 |
15 | g.80152490_80152491insAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCC | CA2528196305 | FAH | c.-85_-84insAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCC (n.-85_-84insAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCC)
| |
15 | g.80152491G>T | CA2515093422 | FAH | c.-84G>T (n.-84G>T)
| gnomAD v4 |
15 | g.80152494dup | CA2190326533 | FAH | c.-81dup (n.-81dup)
| dbSNP |
15 | g.80152493_80152494dup | CA2518114014 | FAH | c.-82_-81dup (n.-82_-81dup)
| |
15 | g.80152494del | CA971892983 | FAH | c.-81del (n.-81del)
| gnomAD v3 gnomAD v4 |
15 | g.80152493_80152494del | CA971892991 | FAH | c.-82_-81del (n.-82_-81del)
| gnomAD v3 gnomAD v4 |
15 | g.80152494_80152499del | CA2804914981 | FAH | c.-81_-76del (n.-81_-76del)
| |
15 | g.80152497_80152513del | CA971892997 | FAH | c.-78_-62del (n.-78_-62del)
| gnomAD v3 gnomAD v4 |
15 | g.80152491_80152556del | CA971892998 | FAH | c.-84_-30+11del
| gnomAD v3 gnomAD v4 |
15 | g.80152492G>T | CA971893016 | FAH | c.-83G>T (n.-83G>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152499_80152582del | CA971893013 | FAH | c.-76_-30+37del
| gnomAD v3 gnomAD v4 |
15 | g.80152499_80152665del | CA971893014 | FAH | c.-76_-30+120del
| gnomAD v3 gnomAD v4 |
15 | g.80152492_80152493insCCT | CA2804914983 | FAH | c.-83_-82insCCT (n.-83_-82insCCT)
| |
15 | g.80152492_80152493insCCCGCAGCCGT | CA2568899612 | FAH | c.-83_-82insCCCGCAGCCGT (n.-83_-82insCCCGCAGCCGT)
| |
15 | g.80152492_80152493insCCTGACCACAGC | CA2536282616 | FAH | c.-83_-82insCCTGACCACAGC (n.-83_-82insCCTGACCACAGC)
| |
15 | g.80152492_80152493insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC | CA971893018 | FAH | c.-83_-82insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC (n.-83_-82insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC)
| gnomAD v3 gnomAD v4 |
15 | g.80152494G>A | CA2530546367 | FAH | c.-81G>A (n.-81G>A)
| |
15 | g.80152494G>C | CA971893020 | FAH | c.-81G>C (n.-81G>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152494G>T | CA2629872421 | FAH | c.-81G>T (n.-81G>T)
| gnomAD v4 |
15 | g.80152494_80152495insCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGC | CA2505222089 | FAH | c.-81_-80insCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGC (n.-81_-80insCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGC)
| |
15 | g.80152495A= | CA2190326543 | FAH | c.-80A= (n.-80A=)
| |
15 | g.80152495A>C | CA619266123 | FAH | c.-80A>C (n.-80A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152495A>G | CA619266124 | FAH | c.-80A>G (n.-80A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152495A>T | CA2731281638 | FAH | c.-80A>T (n.-80A>T)
| dbSNP |
15 | g.80152495_80152508delinsAGGGGCGGGGCTCG | CA2190326545 | FAH | c.-80_-67delinsAGGGGCGGGGCTCG (n.-80_-67delinsAGGGGCGGGGCTCG)
| |
15 | g.80152496G>A | CA971893048 | FAH | c.-79G>A (n.-79G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152496G>C | CA619266125 | FAH | c.-79G>C (n.-79G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152496G= | CA2190326554 | FAH | c.-79G= (n.-79G=)
| |
15 | g.80152496G>T | CA971893026 | FAH | c.-79G>T (n.-79G>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152499_80152511del | CA971893034 | FAH | c.-76_-64del (n.-76_-64del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152497G>T | CA2629872422 | FAH | c.-78G>T (n.-78G>T)
| gnomAD v4 |
15 | g.80152498G>A | CA2629872423 | FAH | c.-77G>A (n.-77G>A)
| gnomAD v4 |
15 | g.80152498G>T | CA2629872424 | FAH | c.-77G>T (n.-77G>T)
| gnomAD v4 |
15 | g.80152506_80152621del | CA971893059 | FAH | c.-69_-30+76del
| gnomAD v3 gnomAD v4 |
15 | g.80152499G>A | CA971893069 | FAH | c.-76G>A (n.-76G>A)
| gnomAD v4 |
15 | g.80152499G>C | CA2629872425 | FAH | c.-76G>C (n.-76G>C)
| gnomAD v4 |
15 | g.80152499G>T | CA2629872426 | FAH | c.-76G>T (n.-76G>T)
| gnomAD v4 |
15 | g.80152500C>A | CA2629872427 | FAH | c.-75C>A (n.-75C>A)
| gnomAD v4 |
15 | g.80152500C= | CA2190326558 | FAH | c.-75C= (n.-75C=)
| |
15 | g.80152500C>G | CA971893075 | FAH | c.-75C>G (n.-75C>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152500C>T | CA971893086 | FAH | c.-75C>T (n.-75C>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152501G>A | CA716102350 | FAH | c.-74G>A (n.-74G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152501G= | CA2190326561 | FAH | c.-74G= (n.-74G=)
| |
15 | g.80152502G>T | CA971893096 | FAH | c.-73G>T (n.-73G>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152502_80152512delinsGGGCTCGGGGA | CA2190326564 | FAH | c.-73_-63delinsGGGCTCGGGGA (n.-73_-63delinsGGGCTCGGGGA)
| |
15 | g.80152503G>A | CA2538941299 | FAH | c.-72G>A (n.-72G>A)
| gnomAD v4 |
15 | g.80152503G>T | CA2515094855 | FAH | c.-72G>T (n.-72G>T)
| gnomAD v4 |
15 | g.80152503_80152504insATGGAG | CA2629872428 | FAH | c.-72_-71insATGGAG (n.-72_-71insATGGAG)
| gnomAD v4 |
15 | g.80152504_80152513del | CA971893099 | FAH | c.-71_-62del (n.-71_-62del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152503_80152504insAT | CA2629872429 | FAH | c.-72_-71insAT (n.-72_-71insAT)
| gnomAD v4 |
15 | g.80152504G>A | CA2629872431 | FAH | c.-71G>A (n.-71G>A)
| gnomAD v4 |
15 | g.80152504G>C | CA2629872430 | FAH | c.-71G>C (n.-71G>C)
| gnomAD v4 |
15 | g.80152504_80152505insGAGGCTTGTGCCATTTTT | CA2629872432 | FAH | c.-71_-70insGAGGCTTGTGCCATTTTT (n.-71_-70insGAGGCTTGTGCCATTTTT)
| gnomAD v4 |
15 | g.80152505C>A | CA2629872433 | FAH | c.-70C>A (n.-70C>A)
| gnomAD v4 |
15 | g.80152505C>G | CA2629872434 | FAH | c.-70C>G (n.-70C>G)
| gnomAD v4 |
15 | g.80152505C>T | CA2804914984 | FAH | c.-70C>T (n.-70C>T)
| |
15 | g.80152506_80152507del | CA2556700145 | FAH | c.-69_-68del (n.-69_-68del)
| gnomAD v4 |
15 | g.80152505_80152506insCGGGCCTGACCACAGCGGCCGAGT | CA2804914985 | FAH | c.-70_-69insCGGGCCTGACCACAGCGGCCGAGT (n.-70_-69insCGGGCCTGACCACAGCGGCCGAGT)
| |
15 | g.80152506del | CA971893100 | FAH | c.-69del (n.-69del)
| gnomAD v3 gnomAD v4 |
15 | g.80152506T>A | CA2629872435 | FAH | c.-69T>A (n.-69T>A)
| gnomAD v4 |
15 | g.80152506T>C | CA971893103 | FAH | c.-69T>C (n.-69T>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152506T>G | CA971893101 | FAH | c.-69T>G (n.-69T>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152506T= | CA2190326569 | FAH | c.-69T= (n.-69T=)
| |
15 | g.80152506_80152510del | CA971893121 | FAH | c.-69_-65del (n.-69_-65del)
| gnomAD v3 gnomAD v4 |
15 | g.80152506_80152514del | CA2804914986 | FAH | c.-69_-61del (n.-69_-61del)
| |
15 | g.80152507C>A | CA716102351 | FAH | c.-68C>A (n.-68C>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152507C= | CA2190326570 | FAH | c.-68C= (n.-68C=)
| |
15 | g.80152507C>G | CA2190326572 | FAH | c.-68C>G (n.-68C>G)
| dbSNP gnomAD v4 |
15 | g.80152507C>T | CA2629872436 | FAH | c.-68C>T (n.-68C>T)
| gnomAD v4 |
15 | g.80152507_80152508delinsCG | CA2190326573 | FAH | c.-68_-67delinsCG (n.-68_-67delinsCG)
| |
15 | g.80152507_80152509del | CA2804914988 | FAH | c.-68_-66del (n.-68_-66del)
| |
15 | g.80152507_80152508insTGGAA | CA2503850913 | FAH | c.-68_-67insTGGAA (n.-68_-67insTGGAA)
| |
15 | g.80152508G>A | CA619266126 | FAH | c.-67G>A (n.-67G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152508G>C | CA2629872437 | FAH | c.-67G>C (n.-67G>C)
| gnomAD v4 |
15 | g.80152508G= | CA2190326579 | FAH | c.-67G= (n.-67G=)
| |
15 | g.80152508G>T | CA619266127 | FAH | c.-67G>T (n.-67G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152511_80152512insTTCGGGGG | CA2804914990 | FAH | c.-64_-63insTTCGGGGG (n.-64_-63insTTCGGGGG)
| |
15 | g.80152511del | CA2190326577 | FAH | c.-64del (n.-64del)
| dbSNP |
15 | g.80152508_80152513del | CA971893129 | FAH | c.-67_-62del (n.-67_-62del)
| gnomAD v3 gnomAD v4 |
15 | g.80152508_80152527del | CA2804914991 | FAH | c.-67_-48del (n.-67_-48del)
| |
15 | g.80152508_80152575delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCA | CA2190326585 | FAH | c.-67_-30+30delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCA
| |
15 | g.80152508_80152658delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA | CA2190326586 | FAH | c.-67_-30+113delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA
| |