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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.80152459_80152479del | CA2524196436 | |||
| 15 | g.80152458_80152469del | CA2629872383 | 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 | |
| 15 | g.80152508_80152509insTTCC | CA2804914993 | FAH | c.-67_-66insTTCC (n.-67_-66insTTCC) | |
| 15 | g.80152509G>A | CA2629872438 | FAH | c.-66G>A (n.-66G>A) | gnomAD v4 |
| 15 | g.80152509G>T | CA2629872439 | FAH | c.-66G>T (n.-66G>T) | gnomAD v4 |
| 15 | g.80152509_80152556del | CA2524935846 | FAH | c.-66_-30+11del | gnomAD v4 |
| 15 | g.80152514_80152580del | CA971893142 | FAH | c.-61_-30+35del | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152514_80152663del | CA971893139 | FAH | c.-61_-30+118del | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152510G>A | CA2629872440 | FAH | c.-65G>A (n.-65G>A) | gnomAD v4 |
| 15 | g.80152510G>T | CA2629872441 | FAH | c.-65G>T (n.-65G>T) | gnomAD v4 |
| 15 | g.80152512_80152518del | CA971893146 | FAH | c.-63_-57del (n.-63_-57del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152510_80152511insCGGGC | CA2572817241 | FAH | c.-65_-64insCGGGC (n.-65_-64insCGGGC) | |
| 15 | g.80152511G>A | CA971893151 | FAH | c.-64G>A (n.-64G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152511G>C | CA2629872442 | FAH | c.-64G>C (n.-64G>C) | gnomAD v4 |
| 15 | g.80152511G= | CA2190326594 | FAH | c.-64G= (n.-64G=) | |
| 15 | g.80152511G>T | CA2629872443 | FAH | c.-64G>T (n.-64G>T) | gnomAD v4 |
| 15 | g.80152511_80152512insTTCGGGGGC | CA971893157 | FAH | c.-64_-63insTTCGGGGGC (n.-64_-63insTTCGGGGGC) | gnomAD v3 gnomAD v4 |
| 15 | g.80152512A= | CA2190326596 | FAH | c.-63A= (n.-63A=) | |
| 15 | g.80152512A>C | CA2596753426 | FAH | c.-63A>C (n.-63A>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152512A>G | CA2629872444 | FAH | c.-63A>G (n.-63A>G) | gnomAD v4 |
| 15 | g.80152512A>T | CA2190326598 | FAH | c.-63A>T (n.-63A>T) | dbSNP gnomAD v4 |
| 15 | g.80152514del | CA971893164 | FAH | c.-61del (n.-61del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152514T>A | CA971893168 | FAH | c.-61T>A (n.-61T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152514T>C | CA2629872445 | FAH | c.-61T>C (n.-61T>C) | gnomAD v4 |
| 15 | g.80152514T>G | CA619266128 | FAH | c.-61T>G (n.-61T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152514T= | CA2190326603 | FAH | c.-61T= (n.-61T=) | |
| 15 | g.80152514_80152516del | CA971893163 | FAH | c.-61_-59del (n.-61_-59del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152514_80152525del | CA971893169 | FAH | c.-61_-50del (n.-61_-50del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152514_80152658del | CA971893183 | FAH | c.-61_-30+113del | gnomAD v3 gnomAD v4 |
| 15 | g.80152515G>C | CA2629872446 | FAH | c.-60G>C (n.-60G>C) | gnomAD v4 |
| 15 | g.80152515_80152520delinsGAGGCA | CA2190326611 | FAH | c.-60_-55delinsGAGGCA (n.-60_-55delinsGAGGCA) | |
| 15 | g.80152519_80152585del | CA971893187 | FAH | c.-56_-30+40del | gnomAD v3 gnomAD v4 |
| 15 | g.80152515_80152516insC | CA971893190 | FAH | c.-60_-59insC (n.-60_-59insC) | gnomAD v3 gnomAD v4 |
| 15 | g.80152516del | CA971893193 | FAH | c.-59del (n.-59del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152516A= | CA2190326612 | FAH | c.-59A= (n.-59A=) | |
| 15 | g.80152516A>C | CA971893208 | FAH | c.-59A>C (n.-59A>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152516A>G | CA971893209 | FAH | c.-59A>G (n.-59A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152518_80152522del | CA971893195 | FAH | c.-57_-53del (n.-57_-53del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152517G>A | CA2190326615 | FAH | c.-58G>A (n.-58G>A) | dbSNP |
| 15 | g.80152517G= | CA2190326616 | FAH | c.-58G= (n.-58G=) | |
| 15 | g.80152518dup | CA274010632 | FAH | c.-57dup (n.-57dup) | dbSNP |
| 15 | g.80152518G>A | CA2629872447 | FAH | c.-57G>A (n.-57G>A) | gnomAD v4 |
| 15 | g.80152518G>T | CA2629872448 | FAH | c.-57G>T (n.-57G>T) | gnomAD v4 |
| 15 | g.80152518_80152520del | CA971893216 | FAH | c.-57_-55del (n.-57_-55del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152519C>A | CA619266129 | FAH | c.-56C>A (n.-56C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152519C= | CA2190326617 | FAH | c.-56C= (n.-56C=) | |
| 15 | g.80152519C>G | CA971893234 | FAH | c.-56C>G (n.-56C>G) | gnomAD v3 gnomAD v4 |
| 15 | g.80152519_80152520del | CA971893225 | FAH | c.-56_-55del (n.-56_-55del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152519_80152525del | CA2804914996 | FAH | c.-56_-50del (n.-56_-50del) | |
| 15 | g.80152520A= | CA2190326621 | FAH | c.-55A= (n.-55A=) | |
| 15 | g.80152520A>C | CA2629872449 | FAH | c.-55A>C (n.-55A>C) | gnomAD v4 |
| 15 | g.80152520A>G | CA619266130 | FAH | c.-55A>G (n.-55A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152520A>T | CA716102354 | FAH | c.-55A>T (n.-55A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152520_80152521insG | CA2804914999 | FAH | c.-55_-54insG (n.-55_-54insG) | |
| 15 | g.80152521A>C | CA971893248 | FAH | c.-54A>C (n.-54A>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152521A>G | CA971893249 | FAH | c.-54A>G (n.-54A>G) | gnomAD v3 gnomAD v4 |
| 15 | g.80152523_80152558del | CA971893243 | FAH | c.-52_-30+13del | gnomAD v3 gnomAD v4 |
| 15 | g.80152522G= | CA2190326625 | FAH | c.-53G= (n.-53G=) | |
| 15 | g.80152522G>T | CA716102356 | FAH | c.-53G>T (n.-53G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152523A= | CA2190326631 | FAH | c.-52A= (n.-52A=) | |
| 15 | g.80152523A>C | CA2596753431 | FAH | c.-52A>C (n.-52A>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152523A>G | CA971893253 | FAH | c.-52A>G (n.-52A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152523_80152525del | CA971893251 | FAH | c.-52_-50del (n.-52_-50del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152524C>A | CA2190326636 | FAH | c.-51C>A (n.-51C>A) | dbSNP |
| 15 | g.80152524C= | CA2190326635 | FAH | c.-51C= (n.-51C=) | |
| 15 | g.80152525T>C | CA2629872450 | FAH | c.-50T>C (n.-50T>C) | gnomAD v4 |
| 15 | g.80152525T>G | CA2190326639 | FAH | c.-50T>G (n.-50T>G) | dbSNP |
| 15 | g.80152525T= | CA2190326640 | FAH | c.-50T= (n.-50T=) | |
| 15 | g.80152525_80152526dup | CA971893254 | FAH | c.-50_-49dup (n.-50_-49dup) | gnomAD v3 gnomAD v4 |
| 15 | g.80152526G>A | CA2190326644 | FAH | c.-49G>A (n.-49G>A) | dbSNP |
| 15 | g.80152526G= | CA2190326643 | FAH | c.-49G= (n.-49G=) | |
| 15 | g.80152527G>A | CA716102357 | FAH | c.-48G>A (n.-48G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152527G>C | CA716102358 | FAH | c.-48G>C (n.-48G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152527G= | CA2190326648 | FAH | c.-48G= (n.-48G=) | |
| 15 | g.80152527G>T | CA619266131 | FAH | c.-48G>T (n.-48G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152528A= | CA2190326651 | FAH | c.-47A= (n.-47A=) | |
| 15 | g.80152528A>C | CA971893262 | FAH | c.-47A>C (n.-47A>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152528A>G | CA971893264 | FAH | c.-47A>G (n.-47A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152528A>T | CA971893259 | FAH | c.-47A>T (n.-47A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152529G>A | CA2629872452 | FAH | c.-46G>A (n.-46G>A) | gnomAD v4 |
| 15 | g.80152529G>T | CA2629872451 | FAH | c.-46G>T (n.-46G>T) | gnomAD v4 |
| 15 | g.80152530G>A | CA2629872453 | FAH | c.-45G>A (n.-45G>A) | gnomAD v4 |
| 15 | g.80152531G>A | CA274010637 | FAH | c.-44G>A (n.-44G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152531G>C | CA716102362 | FAH | c.-44G>C (n.-44G>C) | dbSNP |
| 15 | g.80152531G= | CA2190326654 | FAH | c.-44G= (n.-44G=) | |
| 15 | g.80152531G>T | CA2190326655 | FAH | c.-44G>T (n.-44G>T) | dbSNP |
| 15 | g.80152532_80152614del | CA2804915001 | FAH | c.-43_-30+69del | |
| 15 | g.80152532C>A | CA2804915002 | FAH | c.-43C>A (n.-43C>A) | |
| 15 | g.80152532C>G | CA2629872454 | FAH | c.-43C>G (n.-43C>G) | gnomAD v4 |
| 15 | g.80152533C>A | CA2629872455 | FAH | c.-42C>A (n.-42C>A) | gnomAD v4 |
| 15 | g.80152533C>T | CA2629872456 | FAH | c.-42C>T (n.-42C>T) | gnomAD v4 |
| 15 | g.80152534T>C | CA716102363 | FAH | c.-41T>C (n.-41T>C) | dbSNP gnomAD v4 |
| 15 | g.80152534T>G | CA716102364 | FAH | c.-41T>G (n.-41T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152534T= | CA2190326658 | FAH | c.-41T= (n.-41T=) | |
| 15 | g.80152535G>C | CA2190326663 | FAH | c.-40G>C (n.-40G>C) | dbSNP |
| 15 | g.80152535G= | CA2190326662 | FAH | c.-40G= (n.-40G=) | |
| 15 | g.80152535G>T | CA2629872457 | FAH | c.-40G>T (n.-40G>T) | gnomAD v4 |
| 15 | g.80152536_80152537del | CA971893272 | FAH | c.-39_-38del (n.-39_-38del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152536G>A | CA971893276 | FAH | c.-39G>A (n.-39G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152536G>T | CA2629872458 | FAH | c.-39G>T (n.-39G>T) | gnomAD v4 |
| 15 | g.80152537G>A | CA716102366 | FAH | c.-38G>A (n.-38G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152537G= | CA2190326667 | FAH | c.-38G= (n.-38G=) | |
| 15 | g.80152537G>T | CA2629872459 | FAH | c.-38G>T (n.-38G>T) | gnomAD v4 |
| 15 | g.80152538A= | CA2190326671 | FAH | c.-37A= (n.-37A=) | |
| 15 | g.80152538A>C | CA971893280 | FAH | c.-37A>C (n.-37A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152538A>G | CA971893281 | FAH | c.-37A>G (n.-37A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152539C>T | CA2629872460 | FAH | c.-36C>T (n.-36C>T) | gnomAD v4 |
| 15 | g.80152539_80152551del | CA971893282 | FAH | c.-36_-30+6del | gnomAD v3 gnomAD v4 |
| 15 | g.80152540T>A | CA2804915004 | FAH | c.-35T>A (n.-35T>A) | |
| 15 | g.80152540T>C | CA971893284 | FAH | c.-35T>C (n.-35T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152540T= | CA2190326674 | FAH | c.-35T= (n.-35T=) | |
| 15 | g.80152541C= | CA2190326675 | FAH | c.-34C= (n.-34C=) | |
| 15 | g.80152541C>G | CA2190326676 | FAH | c.-34C>G (n.-34C>G) | dbSNP gnomAD v4 |
| 15 | g.80152542T>A | CA971893287 | FAH | c.-33T>A (n.-33T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152542T>G | CA971893288 | FAH | c.-33T>G (n.-33T>G) | gnomAD v3 gnomAD v4 |
| 15 | g.80152543C>A | CA274010644 | FAH | c.-32C>A (n.-32C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152543C= | CA2190326678 | FAH | c.-32C= (n.-32C=) | |
| 15 | g.80152543C>G | CA2190326681 | FAH | c.-32C>G (n.-32C>G) | dbSNP |
| 15 | g.80152543C>T | CA716102367 | FAH | c.-32C>T (n.-32C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152544G>A | CA2629872461 | FAH | c.-31G>A (n.-31G>A) | gnomAD v4 |
| 15 | g.80152544G>C | CA2499704720 | FAH | c.-31G>C (n.-31G>C) | |
| 15 | g.80152544G= | CA2190326686 | FAH | c.-31G= (n.-31G=) | |
| 15 | g.80152544G>T | CA971893292 | FAH | c.-31G>T (n.-31G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152545G>A | CA2190326690 | FAH | c.-30G>A (n.-30G>A) | dbSNP |
| 15 | g.80152545G= | CA2190326689 | FAH | c.-30G= (n.-30G=) | |
| 15 | g.80152546G>A | CA971893294 | FAH | c.-30+1G>A (n.-30+1G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152547T>C | CA2629872462 | FAH | c.-30+2T>C (n.-30+2T>C) | gnomAD v4 |
| 15 | g.80152547T>G | CA971893299 | FAH | c.-30+2T>G (n.-30+2T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152547T= | CA2190326698 | FAH | c.-30+2T= (n.-30+2T=) | |
| 15 | g.80152547_80152549del | CA2731514747 | FAH | c.-30+2_-30+4del (n.-30+2_-30+4del) | dbSNP |
| 15 | g.80152548A= | CA2190326702 | FAH | c.-30+3A= (n.-30+3A=) | |
| 15 | g.80152548A>C | CA971893304 | FAH | c.-30+3A>C (n.-30+3A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152548A>G | CA971893306 | FAH | c.-30+3A>G (n.-30+3A>G) | gnomAD v3 gnomAD v4 |
| 15 | g.80152549C>A | CA2629872463 | FAH | c.-30+4C>A (n.-30+4C>A) | gnomAD v4 |
| 15 | g.80152549C>G | CA2629872464 | FAH | c.-30+4C>G (n.-30+4C>G) | gnomAD v4 |
| 15 | g.80152550C>A | CA619266132 | FAH | c.-30+5C>A (n.-30+5C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152550C= | CA2190326705 | FAH | c.-30+5C= (n.-30+5C=) | |
| 15 | g.80152551C>A | CA2629872465 | FAH | c.-30+6C>A (n.-30+6C>A) | gnomAD v4 |
| 15 | g.80152551C= | CA2190326708 | FAH | c.-30+6C= (n.-30+6C=) | |
| 15 | g.80152551C>G | CA971893312 | FAH | c.-30+6C>G (n.-30+6C>G) | dbSNP |
| 15 | g.80152551C>T | CA971893315 | FAH | c.-30+6C>T (n.-30+6C>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152552G>A | CA2629872467 | FAH | c.-30+7G>A (n.-30+7G>A) | gnomAD v4 |
| 15 | g.80152552G>C | CA716102370 | FAH | c.-30+7G>C (n.-30+7G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152552G= | CA2190326713 | FAH | c.-30+7G= (n.-30+7G=) | |
| 15 | g.80152552G>T | CA619266133 | FAH | c.-30+7G>T (n.-30+7G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152554dup | CA971893322 | FAH | c.-30+9dup (n.-30+9dup) | gnomAD v3 gnomAD v4 |
| 15 | g.80152554del | CA2804915007 | FAH | c.-30+9del (n.-30+9del) | |
| 15 | g.80152555_80152565del | CA2629872466 | FAH | c.-30+10_-30+20del (n.-30+10_-30+20del) | gnomAD v4 |
| 15 | g.80152556_80152621del | CA2629872468 | FAH | c.-30+11_-30+76del (n.-30+11_-30+76del) | gnomAD v4 |
| 15 | g.80152556_80152638del | CA971893325 | FAH | c.-30+11_-30+93del (n.-30+11_-30+93del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152556_80152707del | CA971893327 | FAH | c.-30+11_-30+162del (n.-30+11_-30+162del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152562_80152779del | CA971893330 | FAH | c.-30+17_-30+234del (n.-30+17_-30+234del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152553G>A | CA619266134 | FAH | c.-30+8G>A (n.-30+8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152553G= | CA2190326715 | FAH | c.-30+8G= (n.-30+8G=) | |
| 15 | g.80152553G>T | CA2629872469 | FAH | c.-30+8G>T (n.-30+8G>T) | gnomAD v4 |
| 15 | g.80152554G>T | CA2629872470 | FAH | c.-30+9G>T (n.-30+9G>T) | gnomAD v4 |
| 15 | g.80152555C>A | CA2629872471 | FAH | c.-30+10C>A (n.-30+10C>A) | gnomAD v4 |
| 15 | g.80152555C= | CA2190326717 | FAH | c.-30+10C= (n.-30+10C=) | |
| 15 | g.80152555C>G | CA2190326718 | FAH | c.-30+10C>G (n.-30+10C>G) | dbSNP gnomAD v4 |
| 15 | g.80152555C>T | CA2549273827 | FAH | c.-30+10C>T (n.-30+10C>T) | gnomAD v4 |
| 15 | g.80152556C>A | CA619266135 | FAH | c.-30+11C>A (n.-30+11C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152556C= | CA2190326721 | FAH | c.-30+11C= (n.-30+11C=) | |
| 15 | g.80152556C>G | CA716102372 | FAH | c.-30+11C>G (n.-30+11C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152556C>T | CA971893340 | FAH | c.-30+11C>T (n.-30+11C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152556_80152639delinsCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG | CA2190326724 | FAH | c.-30+11_-30+94delinsCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG (n.-30+11_-30+94delinsCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG) | |
| 15 | g.80152557A= | CA2190326729 | FAH | c.-30+12A= (n.-30+12A=) | |
| 15 | g.80152557A>C | CA2629872472 | FAH | c.-30+12A>C (n.-30+12A>C) | gnomAD v4 |
| 15 | g.80152557A>G | CA716102375 | FAH | c.-30+12A>G (n.-30+12A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152557A>T | CA2596753437 | FAH | c.-30+12A>T (n.-30+12A>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152573_80152638del | CA971893345 | FAH | c.-30+28_-30+93del (n.-30+28_-30+93del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152587_80152669del | CA971893349 | FAH | c.-30+42_-30+124del (n.-30+42_-30+124del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152586_80152737del | CA619266136 | FAH | c.-30+41_-30+192del (n.-30+41_-30+192del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152558G>A | CA2190326731 | FAH | c.-30+13G>A (n.-30+13G>A) | dbSNP |
| 15 | g.80152558G= | CA2190326733 | FAH | c.-30+13G= (n.-30+13G=) | |
| 15 | g.80152558G>T | CA2596753438 | FAH | c.-30+13G>T (n.-30+13G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152561del | CA971893356 | FAH | c.-30+16del (n.-30+16del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152559G>A | CA716102377 | FAH | c.-30+14G>A (n.-30+14G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152559G= | CA2190326739 | FAH | c.-30+14G= (n.-30+14G=) | |
| 15 | g.80152559G>T | CA2629872473 | FAH | c.-30+14G>T (n.-30+14G>T) | gnomAD v4 |
| 15 | g.80152566_80152665del | CA2804915015 | FAH | c.-30+21_-30+120del (n.-30+21_-30+120del) | |
| 15 | g.80152560G>A | CA2629872474 | FAH | c.-30+15G>A (n.-30+15G>A) | gnomAD v4 |
| 15 | g.80152561G>A | CA716102378 | FAH | c.-30+16G>A (n.-30+16G>A) | dbSNP |
| 15 | g.80152561G= | CA2190326742 | FAH | c.-30+16G= (n.-30+16G=) | |
| 15 | g.80152561G>T | CA2629872475 | FAH | c.-30+16G>T (n.-30+16G>T) | gnomAD v4 |
| 15 | g.80152562A= | CA2190326746 | FAH | c.-30+17A= (n.-30+17A=) | |
| 15 | g.80152562A>C | CA619266137 | FAH | c.-30+17A>C (n.-30+17A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152562A>G | CA716102379 | FAH | c.-30+17A>G (n.-30+17A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152562A>T | CA2629872476 | FAH | c.-30+17A>T (n.-30+17A>T) | gnomAD v4 |
| 15 | g.80152562_80152563delinsAG | CA2190326748 | FAH | c.-30+17_-30+18delinsAG (n.-30+17_-30+18delinsAG) | |
| 15 | g.80152562_80152780delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC | CA2190326750 | FAH | c.-30+17_-30+235delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC (n.-30+17_-30+235delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC) |