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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.80152476_80152577del | CA971892841 | gnomAD v3 gnomAD v4 | ||
| 15 | g.80152495_80152779del | CA2804914975 | |||
| 15 | g.80152489_80152638del | CA971892872 | gnomAD v3 gnomAD v4 | ||
| 15 | g.80152489_80152655del | CA971892871 | gnomAD v3 gnomAD v4 | ||
| 15 | g.80152480_80152613delinsGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA | CA2190326472 | |||
| 15 | g.80152489_80152621del | CA971892884 | dbSNP 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.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.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.80152506_80152621del | CA971893059 | FAH | c.-69_-30+76del | gnomAD v3 gnomAD v4 |
| 15 | g.80152508_80152575delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCA | CA2190326585 | FAH | c.-67_-30+30delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCA | |
| 15 | g.80152508_80152658delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA | CA2190326586 | FAH | c.-67_-30+113delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA | |
| 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.80152514_80152658del | CA971893183 | FAH | c.-61_-30+113del | gnomAD v3 gnomAD v4 |
| 15 | g.80152519_80152585del | CA971893187 | FAH | c.-56_-30+40del | gnomAD v3 gnomAD v4 |
| 15 | g.80152532_80152614del | CA2804915001 | FAH | c.-43_-30+69del | |
| 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.80152556_80152639delinsCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG | CA2190326724 | FAH | c.-30+11_-30+94delinsCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG (n.-30+11_-30+94delinsCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG) | |
| 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.80152566_80152665del | CA2804915015 | FAH | c.-30+21_-30+120del (n.-30+21_-30+120del) | |
| 15 | g.80152562_80152780delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC | CA2190326750 | FAH | c.-30+17_-30+235delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC (n.-30+17_-30+235delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC) | |
| 15 | g.80152575_80152792del | CA971893366 | FAH | c.-30+30_-29-234del (n.-30+30_-29-234del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152573_80152621del | CA971893371 | FAH | c.-30+28_-30+76del (n.-30+28_-30+76del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152573_80152577del | CA971893436 | FAH | c.-30+28_-30+32del (n.-30+28_-30+32del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152575A= | CA2190326786 | FAH | c.-30+30A= (n.-30+30A=) | |
| 15 | g.80152575A>C | CA2629872493 | FAH | c.-30+30A>C (n.-30+30A>C) | gnomAD v4 |
| 15 | g.80152575A>G | CA619266140 | FAH | c.-30+30A>G (n.-30+30A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152575A>T | CA619266141 | FAH | c.-30+30A>T (n.-30+30A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152585_80152588dup | CA971893442 | FAH | c.-30+40_-30+43dup (n.-30+40_-30+43dup) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152585_80152588del | CA971893446 | FAH | c.-30+40_-30+43del (n.-30+40_-30+43del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152576G>T | CA971893454 | FAH | c.-30+31G>T (n.-30+31G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152578del | CA2629872494 | FAH | c.-30+33del (n.-30+33del) | gnomAD v4 |
| 15 | g.80152578G>A | CA619266142 | FAH | c.-30+33G>A (n.-30+33G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152578G>C | CA2804915016 | FAH | c.-30+33G>C (n.-30+33G>C) | |
| 15 | g.80152578G= | CA2190326789 | FAH | c.-30+33G= (n.-30+33G=) | |
| 15 | g.80152578G>T | CA2629872495 | FAH | c.-30+33G>T (n.-30+33G>T) | gnomAD v4 |
| 15 | g.80152578_80152579insTT | CA971893468 | FAH | c.-30+33_-30+34insTT (n.-30+33_-30+34insTT) | gnomAD v3 gnomAD v4 |
| 15 | g.80152579A= | CA2190326792 | FAH | c.-30+34A= (n.-30+34A=) | |
| 15 | g.80152579A>C | CA971893470 | FAH | c.-30+34A>C (n.-30+34A>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152579A>G | CA2190326793 | FAH | c.-30+34A>G (n.-30+34A>G) | dbSNP gnomAD v4 |
| 15 | g.80152579A>T | CA2596753441 | FAH | c.-30+34A>T (n.-30+34A>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152580G>A | CA2629872496 | FAH | c.-30+35G>A (n.-30+35G>A) | gnomAD v4 |
| 15 | g.80152582dup | CA971893476 | FAH | c.-30+37dup (n.-30+37dup) | gnomAD v3 gnomAD v4 |
| 15 | g.80152581_80152586del | CA2804915017 | FAH | c.-30+36_-30+41del (n.-30+36_-30+41del) | |
| 15 | g.80152581G>A | CA274010650 | FAH | c.-30+36G>A (n.-30+36G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152581G= | CA2190326797 | FAH | c.-30+36G= (n.-30+36G=) | |
| 15 | g.80152581_80152613delinsGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA | CA2190326796 | FAH | c.-30+36_-30+68delinsGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA (n.-30+36_-30+68delinsGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA) | |
| 15 | g.80152583_80152615del | CA2804915019 | FAH | c.-30+38_-30+70del (n.-30+38_-30+70del) | |
| 15 | g.80152583_80152660del | CA971893480 | FAH | c.-30+38_-30+115del (n.-30+38_-30+115del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152582G>A | CA2629872497 | FAH | c.-30+37G>A (n.-30+37G>A) | gnomAD v4 |
| 15 | g.80152582G>C | CA2629872498 | FAH | c.-30+37G>C (n.-30+37G>C) | gnomAD v4 |
| 15 | g.80152582G>T | CA2804915021 | FAH | c.-30+37G>T (n.-30+37G>T) | |
| 15 | g.80152583_80152584del | CA971893487 | FAH | c.-30+38_-30+39del (n.-30+38_-30+39del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152583_80152614del | CA971893488 | FAH | c.-30+38_-30+69del (n.-30+38_-30+69del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152583del | CA971893489 | FAH | c.-30+38del (n.-30+38del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152583A= | CA2190326800 | FAH | c.-30+38A= (n.-30+38A=) | |
| 15 | g.80152583A>C | CA619266143 | FAH | c.-30+38A>C (n.-30+38A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152583A>G | CA971893492 | FAH | c.-30+38A>G (n.-30+38A>G) | gnomAD v3 gnomAD v4 |
| 15 | g.80152583A>T | CA2541671205 | FAH | c.-30+38A>T (n.-30+38A>T) | |
| 15 | g.80152583_80152584delinsAG | CA2190326802 | FAH | c.-30+38_-30+39delinsAG (n.-30+38_-30+39delinsAG) | |
| 15 | g.80152584G>A | CA2190326812 | FAH | c.-30+39G>A (n.-30+39G>A) | dbSNP |
| 15 | g.80152584G= | CA2190326808 | FAH | c.-30+39G= (n.-30+39G=) | |
| 15 | g.80152584G>T | CA2629872499 | FAH | c.-30+39G>T (n.-30+39G>T) | gnomAD v4 |
| 15 | g.80152586del | CA619266144 | FAH | c.-30+41del (n.-30+41del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152584_80152585insT | CA2629872500 | FAH | c.-30+39_-30+40insT (n.-30+39_-30+40insT) | gnomAD v4 |
| 15 | g.80152585G>A | CA2190326817 | FAH | c.-30+40G>A (n.-30+40G>A) | dbSNP gnomAD v4 |
| 15 | g.80152585G= | CA2190326816 | FAH | c.-30+40G= (n.-30+40G=) | |
| 15 | g.80152585G>T | CA2629872501 | FAH | c.-30+40G>T (n.-30+40G>T) | gnomAD v4 |
| 15 | g.80152597_80152747del | CA971893494 | FAH | c.-30+52_-30+202del (n.-30+52_-30+202del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152586G>A | CA2190326824 | FAH | c.-30+41G>A (n.-30+41G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152586G>C | CA2629872502 | FAH | c.-30+41G>C (n.-30+41G>C) | gnomAD v4 |
| 15 | g.80152586G= | CA2190326822 | FAH | c.-30+41G= (n.-30+41G=) | |
| 15 | g.80152586G>T | CA2527336690 | FAH | c.-30+41G>T (n.-30+41G>T) | |
| 15 | g.80152588_80152591dup | CA2190326820 | FAH | c.-30+43_-30+46dup (n.-30+43_-30+46dup) | dbSNP |
| 15 | g.80152586_80152592del | CA2804915023 | FAH | c.-30+41_-30+47del (n.-30+41_-30+47del) | |
| 15 | g.80152586_80152612del | CA971893495 | FAH | c.-30+41_-30+67del (n.-30+41_-30+67del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152587_80152614del | CA971893496 | FAH | c.-30+42_-30+69del (n.-30+42_-30+69del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152587del | CA971893498 | FAH | c.-30+42del (n.-30+42del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152587A= | CA2190326832 | FAH | c.-30+42A= (n.-30+42A=) | |
| 15 | g.80152587A>C | CA716102385 | FAH | c.-30+42A>C (n.-30+42A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152587A>G | CA274010659 | FAH | c.-30+42A>G (n.-30+42A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152587A>T | CA971893501 | FAH | c.-30+42A>T (n.-30+42A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152588G>T | CA971893503 | FAH | c.-30+43G>T (n.-30+43G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152589A= | CA2190326834 | FAH | c.-30+44A= (n.-30+44A=) | |
| 15 | g.80152589A>C | CA2629872503 | FAH | c.-30+44A>C (n.-30+44A>C) | gnomAD v4 |
| 15 | g.80152589A>G | CA971893505 | FAH | c.-30+44A>G (n.-30+44A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152589A>T | CA2629872504 | FAH | c.-30+44A>T (n.-30+44A>T) | dbSNP gnomAD v4 |
| 15 | g.80152590G>A | CA2629872505 | FAH | c.-30+45G>A (n.-30+45G>A) | gnomAD v4 |
| 15 | g.80152590G>T | CA2629872506 | FAH | c.-30+45G>T (n.-30+45G>T) | gnomAD v4 |
| 15 | g.80152591A>C | CA971893509 | FAH | c.-30+46A>C (n.-30+46A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152591A>G | CA2629872507 | FAH | c.-30+46A>G (n.-30+46A>G) | gnomAD v4 |
| 15 | g.80152591_80152592insGTGTGTAGGAG | CA2804915024 | FAH | c.-30+46_-30+47insGTGTGTAGGAG (n.-30+46_-30+47insGTGTGTAGGAG) | |
| 15 | g.80152592C>A | CA2629872508 | FAH | c.-30+47C>A (n.-30+47C>A) | gnomAD v4 |
| 15 | g.80152592C>G | CA2804915025 | FAH | c.-30+47C>G (n.-30+47C>G) | |
| 15 | g.80152592C>T | CA2629872509 | FAH | c.-30+47C>T (n.-30+47C>T) | gnomAD v4 |
| 15 | g.80152593T>C | CA2190326843 | FAH | c.-30+48T>C (n.-30+48T>C) | dbSNP gnomAD v4 |
| 15 | g.80152593T>G | CA971893516 | FAH | c.-30+48T>G (n.-30+48T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152593T= | CA2190326838 | FAH | c.-30+48T= (n.-30+48T=) | |
| 15 | g.80152593_80152594dup | CA971893515 | FAH | c.-30+48_-30+49dup (n.-30+48_-30+49dup) | gnomAD v3 gnomAD v4 |
| 15 | g.80152594G>A | CA971893518 | FAH | c.-30+49G>A (n.-30+49G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152595G>A | CA2629872510 | FAH | c.-30+50G>A (n.-30+50G>A) | gnomAD v4 |
| 15 | g.80152595G>C | CA2629872511 | FAH | c.-30+50G>C (n.-30+50G>C) | gnomAD v4 |
| 15 | g.80152595G= | CA2190326848 | FAH | c.-30+50G= (n.-30+50G=) | |
| 15 | g.80152595G>T | CA2190326850 | FAH | c.-30+50G>T (n.-30+50G>T) | dbSNP gnomAD v4 |
| 15 | g.80152596A>C | CA2629872512 | FAH | c.-30+51A>C (n.-30+51A>C) | gnomAD v4 |
| 15 | g.80152596A>G | CA971893520 | FAH | c.-30+51A>G (n.-30+51A>G) | gnomAD v3 gnomAD v4 |
| 15 | g.80152597T>A | CA2629872513 | FAH | c.-30+52T>A (n.-30+52T>A) | gnomAD v4 |
| 15 | g.80152597T>G | CA619266145 | FAH | c.-30+52T>G (n.-30+52T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152597T= | CA2190326854 | FAH | c.-30+52T= (n.-30+52T=) | |
| 15 | g.80152597_80152602del | CA2804915026 | FAH | c.-30+52_-30+57del (n.-30+52_-30+57del) | |
| 15 | g.80152598G>T | CA2629872514 | FAH | c.-30+53G>T (n.-30+53G>T) | gnomAD v4 |
| 15 | g.80152604_80152754del | CA2804915027 | FAH | c.-30+59_-30+209del (n.-30+59_-30+209del) | |
| 15 | g.80152599A>C | CA2731514917 | FAH | c.-30+54A>C (n.-30+54A>C) | dbSNP |
| 15 | g.80152599A>T | CA2629872515 | FAH | c.-30+54A>T (n.-30+54A>T) | gnomAD v4 |
| 15 | g.80152600C>A | CA971893525 | FAH | c.-30+55C>A (n.-30+55C>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152600C>G | CA2629872516 | FAH | c.-30+55C>G (n.-30+55C>G) | gnomAD v4 |
| 15 | g.80152601del | CA2629872517 | FAH | c.-30+56del (n.-30+56del) | gnomAD v4 |
| 15 | g.80152601C>A | CA971893526 | FAH | c.-30+56C>A (n.-30+56C>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152601C= | CA2190326856 | FAH | c.-30+56C= (n.-30+56C=) | |
| 15 | g.80152601C>T | CA716102389 | FAH | c.-30+56C>T (n.-30+56C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152602T>A | CA2629872518 | FAH | c.-30+57T>A (n.-30+57T>A) | gnomAD v4 |
| 15 | g.80152602T>C | CA971893531 | FAH | c.-30+57T>C (n.-30+57T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152602T>G | CA716102392 | FAH | c.-30+57T>G (n.-30+57T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152602T= | CA2190326863 | FAH | c.-30+57T= (n.-30+57T=) | |
| 15 | g.80152602_80152603del | CA2804915028 | FAH | c.-30+57_-30+58del (n.-30+57_-30+58del) | |
| 15 | g.80152603G>C | CA971893537 | FAH | c.-30+58G>C (n.-30+58G>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152603G>T | CA2629872521 | FAH | c.-30+58G>T (n.-30+58G>T) | gnomAD v4 |
| 15 | g.80152606del | CA2629872519 | FAH | c.-30+61del (n.-30+61del) | gnomAD v4 |
| 15 | g.80152609_80152656del | CA2629872520 | FAH | c.-30+64_-30+111del (n.-30+64_-30+111del) | gnomAD v4 |
| 15 | g.80152604G>A | CA619266146 | FAH | c.-30+59G>A (n.-30+59G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152604G>C | CA971893545 | FAH | c.-30+59G>C (n.-30+59G>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152604G= | CA2190326878 | FAH | c.-30+59G= (n.-30+59G=) | |
| 15 | g.80152604G>T | CA2804915029 | FAH | c.-30+59G>T (n.-30+59G>T) | |
| 15 | g.80152605G>A | CA716102393 | FAH | c.-30+60G>A (n.-30+60G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152605G= | CA2190326886 | FAH | c.-30+60G= (n.-30+60G=) | |
| 15 | g.80152606G>A | CA2629872522 | FAH | c.-30+61G>A (n.-30+61G>A) | gnomAD v4 |
| 15 | g.80152606G>C | CA2629872523 | FAH | c.-30+61G>C (n.-30+61G>C) | gnomAD v4 |
| 15 | g.80152606_80152607insAC | CA2804915030 | FAH | c.-30+61_-30+62insAC (n.-30+61_-30+62insAC) | |
| 15 | g.80152607C>A | CA2629872524 | FAH | c.-30+62C>A (n.-30+62C>A) | gnomAD v4 |
| 15 | g.80152608T>A | CA2596753446 | FAH | c.-30+63T>A (n.-30+63T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152608T>C | CA2629872525 | FAH | c.-30+63T>C (n.-30+63T>C) | gnomAD v4 |
| 15 | g.80152608T>G | CA2190326889 | FAH | c.-30+63T>G (n.-30+63T>G) | dbSNP |
| 15 | g.80152608T= | CA2190326888 | FAH | c.-30+63T= (n.-30+63T=) | |
| 15 | g.80152609T>A | CA971893549 | FAH | c.-30+64T>A (n.-30+64T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152609T>C | CA971893548 | FAH | c.-30+64T>C (n.-30+64T>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152609T>G | CA2629872526 | FAH | c.-30+64T>G (n.-30+64T>G) | gnomAD v4 |
| 15 | g.80152610G>A | CA2629872527 | FAH | c.-30+65G>A (n.-30+65G>A) | gnomAD v4 |
| 15 | g.80152610G>C | CA971893550 | FAH | c.-30+65G>C (n.-30+65G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152610G= | CA2190326892 | FAH | c.-30+65G= (n.-30+65G=) | |
| 15 | g.80152610G>T | CA2629872528 | FAH | c.-30+65G>T (n.-30+65G>T) | gnomAD v4 |
| 15 | g.80152611C>A | CA2629872529 | FAH | c.-30+66C>A (n.-30+66C>A) | gnomAD v4 |
| 15 | g.80152611C>T | CA2629872530 | FAH | c.-30+66C>T (n.-30+66C>T) | gnomAD v4 |
| 15 | g.80152612A= | CA2190326894 | FAH | c.-30+67A= (n.-30+67A=) | |
| 15 | g.80152612A>C | CA2629872532 | FAH | c.-30+67A>C (n.-30+67A>C) | gnomAD v4 |
| 15 | g.80152612A>G | CA971893552 | FAH | c.-30+67A>G (n.-30+67A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152612A>T | CA971893572 | FAH | c.-30+67A>T (n.-30+67A>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152612_80152613del | CA2629872531 | FAH | c.-30+67_-30+68del (n.-30+67_-30+68del) | gnomAD v4 |
| 15 | g.80152613A= | CA2190326903 | FAH | c.-30+68A= (n.-30+68A=) | |
| 15 | g.80152613A>C | CA971893576 | FAH | c.-30+68A>C (n.-30+68A>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152613A>G | CA2190326900 | FAH | c.-30+68A>G (n.-30+68A>G) | dbSNP gnomAD v4 |
| 15 | g.80152613A>T | CA2804915031 | FAH | c.-30+68A>T (n.-30+68A>T) | |
| 15 | g.80152613_80152630delinsAGGCGGGGCGAGGGGAGG | CA2190326902 | FAH | c.-30+68_-30+85delinsAGGCGGGGCGAGGGGAGG (n.-30+68_-30+85delinsAGGCGGGGCGAGGGGAGG) | |
| 15 | g.80152613_80152765delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGG | CA2190326899 | FAH | c.-30+68_-30+220delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGG (n.-30+68_-30+220delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGG) | |
| 15 | g.80152613_80152782delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGG | CA2190326896 | FAH | c.-30+68_-30+237delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGG (n.-30+68_-30+237delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGG) | |
| 15 | g.80152614G>A | CA2629872533 | FAH | c.-30+69G>A (n.-30+69G>A) | gnomAD v4 |
| 15 | g.80152614_80152615del | CA2804915033 | FAH | c.-30+69_-30+70del (n.-30+69_-30+70del) | |
| 15 | g.80152615_80152616insAGGGGCGAGGGGAGGGG | CA2596753452 | FAH | c.-30+70_-30+71insAGGGGCGAGGGGAGGGG (n.-30+70_-30+71insAGGGGCGAGGGGAGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152615_80152616insGGGGGCGAGGGGAGGGG | CA2629872534 | FAH | c.-30+70_-30+71insGGGGGCGAGGGGAGGGG (n.-30+70_-30+71insGGGGGCGAGGGGAGGGG) | gnomAD v4 |
| 15 | g.80152621_80152622insTAGGGGAGGGGCGGGGC | CA2596753450 | FAH | c.-30+76_-30+77insTAGGGGAGGGGCGGGGC (n.-30+76_-30+77insTAGGGGAGGGGCGGGGC) | gnomAD v3 gnomAD v4 |
| 15 | g.80152622_80152623insCGGGGAGGGGCGGGGCG | CA971893600 | FAH | c.-30+77_-30+78insCGGGGAGGGGCGGGGCG (n.-30+77_-30+78insCGGGGAGGGGCGGGGCG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152622_80152623insGGGGGAGGGGCGGGGCG | CA2629872539 | FAH | c.-30+77_-30+78insGGGGGAGGGGCGGGGCG (n.-30+77_-30+78insGGGGGAGGGGCGGGGCG) | gnomAD v4 |
| 15 | g.80152622_80152623insTGGGGAGGGGCGGGGCG | CA2804915034 | FAH | c.-30+77_-30+78insTGGGGAGGGGCGGGGCG (n.-30+77_-30+78insTGGGGAGGGGCGGGGCG) | |
| 15 | g.80152626_80152627insTAGGGGCGGGGCGAGGG | CA971893598 | FAH | c.-30+81_-30+82insTAGGGGCGGGGCGAGGG (n.-30+81_-30+82insTAGGGGCGGGGCGAGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152627_80152628insCGGGGCGGGGCGAGGGG | CA2523659386 | FAH | c.-30+82_-30+83insCGGGGCGGGGCGAGGGG (n.-30+82_-30+83insCGGGGCGGGGCGAGGGG) | gnomAD v4 |
| 15 | g.80152627_80152628insGGGGGCGGGGCGAGGGG | CA971893591 | FAH | c.-30+82_-30+83insGGGGGCGGGGCGAGGGG (n.-30+82_-30+83insGGGGGCGGGGCGAGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152628_80152629insAGGGCGGGGCGAGGGGA | CA2629872535 | FAH | c.-30+83_-30+84insAGGGCGGGGCGAGGGGA (n.-30+83_-30+84insAGGGCGGGGCGAGGGGA) | gnomAD v4 |
| 15 | g.80152629_80152630insCGGCGGGGCGAGGGGAG | CA2629872538 | FAH | c.-30+84_-30+85insCGGCGGGGCGAGGGGAG (n.-30+84_-30+85insCGGCGGGGCGAGGGGAG) | gnomAD v4 |
| 15 | g.80152632_80152633insAGGGGCGGGGCGAGGGGAGGGG | CA2629872537 | FAH | c.-30+87_-30+88insAGGGGCGGGGCGAGGGGAGGGG (n.-30+87_-30+88insAGGGGCGGGGCGAGGGGAGGGG) | gnomAD v4 |
| 15 | g.80152634_80152635insAGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCG | CA2804915036 | FAH | c.-30+89_-30+90insAGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCG (n.-30+89_-30+90insAGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCG) | |
| 15 | g.80152639_80152640insGGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCG | CA2629872536 | FAH | c.-30+94_-30+95insGGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCG (n.-30+94_-30+95insGGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCG) | gnomAD v4 |
| 15 | g.80152640_80152641insTGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGA | CA2804915035 | FAH | c.-30+95_-30+96insTGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGA (n.-30+95_-30+96insTGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGA) | |
| 15 | g.80152639_80152655dup | CA619266148 | FAH | c.-30+94_-30+110dup (n.-30+94_-30+110dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152622_80152655dup | CA971893582 | FAH | c.-30+77_-30+110dup (n.-30+77_-30+110dup) | gnomAD v3 gnomAD v4 |
| 15 | g.80152639_80152655del | CA619266147 | FAH | c.-30+94_-30+110del (n.-30+94_-30+110del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152622_80152655del | CA971893602 | FAH | c.-30+77_-30+110del (n.-30+77_-30+110del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152622_80152724del | CA971893603 | FAH | c.-30+77_-30+179del (n.-30+77_-30+179del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152622_80152773del | CA971893604 | FAH | c.-30+77_-30+228del (n.-30+77_-30+228del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152622_80152790del | CA971893607 | FAH | c.-30+77_-29-236del (n.-30+77_-29-236del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152615G>A | CA2190326924 | FAH | c.-30+70G>A (n.-30+70G>A) | dbSNP |
| 15 | g.80152615G= | CA2190326921 | FAH | c.-30+70G= (n.-30+70G=) | |
| 15 | g.80152615_80152616insGGT | CA2629872540 | FAH | c.-30+70_-30+71insGGT (n.-30+70_-30+71insGGT) | gnomAD v4 |
| 15 | g.80152616C>G | CA2804915038 | FAH | c.-30+71C>G (n.-30+71C>G) | |
| 15 | g.80152622_80152707del | CA971893613 | FAH | c.-30+77_-30+162del (n.-30+77_-30+162del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152617G>A | CA971893615 | FAH | c.-30+72G>A (n.-30+72G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152617G>C | CA2629872542 | FAH | c.-30+72G>C (n.-30+72G>C) | gnomAD v4 |
| 15 | g.80152617G= | CA2190326926 | FAH | c.-30+72G= (n.-30+72G=) | |
| 15 | g.80152617G>T | CA2190326931 | FAH | c.-30+72G>T (n.-30+72G>T) | dbSNP |
| 15 | g.80152623_80152651del | CA2629872541 | FAH | c.-30+78_-30+106del (n.-30+78_-30+106del) | gnomAD v4 |
| 15 | g.80152622_80152692del | CA2567018510 | FAH | c.-30+77_-30+147del (n.-30+77_-30+147del) | gnomAD v4 |
| 15 | g.80152617_80152618insAC | CA2804915039 | FAH | c.-30+72_-30+73insAC (n.-30+72_-30+73insAC) | |
| 15 | g.80152618G>T | CA2629872543 | FAH | c.-30+73G>T (n.-30+73G>T) | gnomAD v4 |
| 15 | g.80152619_80152622del | CA2553112347 | FAH | c.-30+74_-30+77del (n.-30+74_-30+77del) | |
| 15 | g.80152618_80152692del | CA2804915040 | FAH | c.-30+73_-30+147del (n.-30+73_-30+147del) | |
| 15 | g.80152619G>T | CA2629872544 | FAH | c.-30+74G>T (n.-30+74G>T) | gnomAD v4 |
| 15 | g.80152620G>A | CA2804915042 | FAH | c.-30+75G>A (n.-30+75G>A) | |
| 15 | g.80152621_80152629del | CA2804915041 | FAH | c.-30+76_-30+84del (n.-30+76_-30+84del) | |
| 15 | g.80152621C= | CA2190326937 | FAH | c.-30+76C= (n.-30+76C=) | |
| 15 | g.80152621C>G | CA2190326940 | FAH | c.-30+76C>G (n.-30+76C>G) | dbSNP gnomAD v4 |
| 15 | g.80152621C>T | CA2190326938 | FAH | c.-30+76C>T (n.-30+76C>T) | dbSNP gnomAD v4 |
| 15 | g.80152621_80152622insTCTG | CA971893619 | FAH | c.-30+76_-30+77insTCTG (n.-30+76_-30+77insTCTG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152622G>A | CA971893624 | FAH | c.-30+77G>A (n.-30+77G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152622G>C | CA971893625 | FAH | c.-30+77G>C (n.-30+77G>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152622G>T | CA971893627 | FAH | c.-30+77G>T (n.-30+77G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152628_80152632del | CA2629872546 | FAH | c.-30+83_-30+87del (n.-30+83_-30+87del) | gnomAD v4 |
| 15 | g.80152637_80152638insGGAGGGGAGGGGCGGGG | CA2629872545 | FAH | c.-30+92_-30+93insGGAGGGGAGGGGCGGGG (n.-30+92_-30+93insGGAGGGGAGGGGCGGGG) | gnomAD v4 |
| 15 | g.80152628_80152649dup | CA2565783945 | FAH | c.-30+83_-30+104dup (n.-30+83_-30+104dup) | |
| 15 | g.80152623A= | CA2190326942 | FAH | c.-30+78A= (n.-30+78A=) | |
| 15 | g.80152623A>C | CA971893634 | FAH | c.-30+78A>C (n.-30+78A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152623A>G | CA971893638 | FAH | c.-30+78A>G (n.-30+78A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152623A>T | CA2190326945 | FAH | c.-30+78A>T (n.-30+78A>T) | dbSNP |
| 15 | g.80152639_80152724del | CA971893631 | FAH | c.-30+94_-30+179del (n.-30+94_-30+179del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152624G>A | CA971893655 | FAH | c.-30+79G>A (n.-30+79G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152624G>C | CA2804915044 | FAH | c.-30+79G>C (n.-30+79G>C) | |
| 15 | g.80152627_80152628insGGGGGCGGGGCGGGGGG | CA2804915043 | FAH | c.-30+82_-30+83insGGGGGCGGGGCGGGGGG (n.-30+82_-30+83insGGGGGCGGGGCGGGGGG) | |
| 15 | g.80152627_80152628insGGGGGGGGGGGGGGGGG | CA2804915045 | FAH | c.-30+82_-30+83insGGGGGGGGGGGGGGGGG (n.-30+82_-30+83insGGGGGGGGGGGGGGGGG) | |
| 15 | g.80152627del | CA2629872547 | FAH | c.-30+82del (n.-30+82del) | gnomAD v4 |
| 15 | g.80152625_80152632del | CA2731515004 | FAH | c.-30+80_-30+87del (n.-30+80_-30+87del) | dbSNP |
| 15 | g.80152625_80152637del | CA2509348432 | FAH | c.-30+80_-30+92del (n.-30+80_-30+92del) | |
| 15 | g.80152639_80152640insCGGGGAGGGGCGGGGCG | CA971893643 | FAH | c.-30+94_-30+95insCGGGGAGGGGCGGGGCG (n.-30+94_-30+95insCGGGGAGGGGCGGGGCG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152639_80152640insGGGGGAGGGGCGGGGCG | CA971893644 | FAH | c.-30+94_-30+95insGGGGGAGGGGCGGGGCG (n.-30+94_-30+95insGGGGGAGGGGCGGGGCG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152639_80152640insTGGGGAGGGGCGGGGCG | CA971893646 | FAH | c.-30+94_-30+95insTGGGGAGGGGCGGGGCG (n.-30+94_-30+95insTGGGGAGGGGCGGGGCG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152634_80152856del | CA971893648 | FAH | c.-30+89_-29-170del (n.-30+89_-29-170del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152625G= | CA2190326951 | FAH | c.-30+80G= (n.-30+80G=) | |
| 15 | g.80152625G>T | CA619266149 | FAH | c.-30+80G>T (n.-30+80G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152639_80152640insCTGGGAGGGGCGGGGCG | CA2629872548 | FAH | c.-30+94_-30+95insCTGGGAGGGGCGGGGCG (n.-30+94_-30+95insCTGGGAGGGGCGGGGCG) | gnomAD v4 |
| 15 | g.80152632_80152665del | CA971893664 | FAH | c.-30+87_-30+120del (n.-30+87_-30+120del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152632_80152734del | CA971893662 | FAH | c.-30+87_-30+189del (n.-30+87_-30+189del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152626G>C | CA2190326957 | FAH | c.-30+81G>C (n.-30+81G>C) | dbSNP |
| 15 | g.80152626G= | CA2190326956 | FAH | c.-30+81G= (n.-30+81G=) | |
| 15 | g.80152626G>T | CA2629872549 | FAH | c.-30+81G>T (n.-30+81G>T) | gnomAD v4 |
| 15 | g.80152627G>T | CA2629872550 | FAH | c.-30+82G>T (n.-30+82G>T) | gnomAD v4 |
| 15 | g.80152633_80152644dup | CA2190326959 | FAH | c.-30+88_-30+99dup (n.-30+88_-30+99dup) | dbSNP |
| 15 | g.80152628A= | CA2190326962 | FAH | c.-30+83A= (n.-30+83A=) | |
| 15 | g.80152628A>C | CA971893666 | FAH | c.-30+83A>C (n.-30+83A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152628A>G | CA274010664 | FAH | c.-30+83A>G (n.-30+83A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152628A>T | CA2190326966 | FAH | c.-30+83A>T (n.-30+83A>T) | dbSNP |
| 15 | g.80152629G>A | CA971893682 | FAH | c.-30+84G>A (n.-30+84G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152629G>T | CA2556865666 | FAH | c.-30+84G>T (n.-30+84G>T) | |
| 15 | g.80152632_80152633insGGGGGCGGGGGGGGGGG | CA2629872553 | FAH | c.-30+87_-30+88insGGGGGCGGGGGGGGGGG (n.-30+87_-30+88insGGGGGCGGGGGGGGGGG) | gnomAD v4 |
| 15 | g.80152635_80152639dup | CA971893668 | FAH | c.-30+90_-30+94dup (n.-30+90_-30+94dup) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152644_80152645insCGGGGCGGGGCGAGGGG | CA2629872551 | FAH | c.-30+99_-30+100insCGGGGCGGGGCGAGGGG (n.-30+99_-30+100insCGGGGCGGGGCGAGGGG) | gnomAD v4 |
| 15 | g.80152644_80152645insGGGGGCGGGGCGAGGGG | CA2629872552 | FAH | c.-30+99_-30+100insGGGGGCGGGGCGAGGGG (n.-30+99_-30+100insGGGGGCGGGGCGAGGGG) | gnomAD v4 |
| 15 | g.80152632_80152700del | CA971893671 | FAH | c.-30+87_-30+155del (n.-30+87_-30+155del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152639_80152790del | CA971893681 | FAH | c.-30+94_-29-236del (n.-30+94_-29-236del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152631G>C | CA2629872556 | FAH | c.-30+86G>C (n.-30+86G>C) | gnomAD v4 |
| 15 | g.80152631G>T | CA2629872557 | FAH | c.-30+86G>T (n.-30+86G>T) | gnomAD v4 |
| 15 | g.80152632_80152639del | CA2629872555 | FAH | c.-30+87_-30+94del (n.-30+87_-30+94del) | gnomAD v4 |
| 15 | g.80152646_80152647insAGGCGGGGCGAGGGGAG | CA2629872554 | FAH | c.-30+101_-30+102insAGGCGGGGCGAGGGGAG (n.-30+101_-30+102insAGGCGGGGCGAGGGGAG) | gnomAD v4 |
| 15 | g.80152632G>A | CA2629872558 | FAH | c.-30+87G>A (n.-30+87G>A) | gnomAD v4 |
| 15 | g.80152632G= | CA2190326972 | FAH | c.-30+87G= (n.-30+87G=) | |
| 15 | g.80152632G>T | CA716102401 | FAH | c.-30+87G>T (n.-30+87G>T) | dbSNP gnomAD v4 |
| 15 | g.80152633_80152634del | CA2629872559 | FAH | c.-30+88_-30+89del (n.-30+88_-30+89del) | gnomAD v4 |
| 15 | g.80152633_80152639del | CA2629872561 | FAH | c.-30+88_-30+94del (n.-30+88_-30+94del) | gnomAD v4 |
| 15 | g.80152647_80152648insTGCGGGGCGAGGGGAGG | CA2629872560 | FAH | c.-30+102_-30+103insTGCGGGGCGAGGGGAGG (n.-30+102_-30+103insTGCGGGGCGAGGGGAGG) | gnomAD v4 |
| 15 | g.80152632_80152701delinsGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT | CA2190326975 | FAH | c.-30+87_-30+156delinsGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT (n.-30+87_-30+156delinsGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT) | |
| 15 | g.80152633C>A | CA971893685 | FAH | c.-30+88C>A (n.-30+88C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152633C= | CA2190326977 | FAH | c.-30+88C= (n.-30+88C=) | |
| 15 | g.80152633C>G | CA2190326978 | FAH | c.-30+88C>G (n.-30+88C>G) | dbSNP gnomAD v4 |
| 15 | g.80152633C>T | CA2629872562 | FAH | c.-30+88C>T (n.-30+88C>T) | gnomAD v4 |
| 15 | g.80152633dup | CA2534971113 | FAH | c.-30+88dup (n.-30+88dup) | |
| 15 | g.80152639_80152707del | CA971893686 | FAH | c.-30+94_-30+162del (n.-30+94_-30+162del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152634G>A | CA619266150 | FAH | c.-30+89G>A (n.-30+89G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152634G>C | CA2540927661 | FAH | c.-30+89G>C (n.-30+89G>C) | |
| 15 | g.80152634G>T | CA971893691 | FAH | c.-30+89G>T (n.-30+89G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152639_80152640insCGGGGGGGGGGGGGGCG | CA2804915047 | FAH | c.-30+94_-30+95insCGGGGGGGGGGGGGGCG (n.-30+94_-30+95insCGGGGGGGGGGGGGGCG) | |
| 15 | g.80152640_80152641insTGGGAGGGGGGGGGCGA | CA2629872564 | FAH | c.-30+95_-30+96insTGGGAGGGGGGGGGCGA (n.-30+95_-30+96insTGGGAGGGGGGGGGCGA) | gnomAD v4 |
| 15 | g.80152636_80152644del | CA2731515046 | FAH | c.-30+91_-30+99del (n.-30+91_-30+99del) | dbSNP |
| 15 | g.80152649_80152650insGGGGGCGAGGGGAGGGG | CA971893687 | FAH | c.-30+104_-30+105insGGGGGCGAGGGGAGGGG (n.-30+104_-30+105insGGGGGCGAGGGGAGGGG) | gnomAD v4 |
| 15 | g.80152640_80152651dup | CA2629872563 | FAH | c.-30+95_-30+106dup (n.-30+95_-30+106dup) | gnomAD v4 |
| 15 | g.80152636_80152669del | CA2629872565 | FAH | c.-30+91_-30+124del (n.-30+91_-30+124del) | gnomAD v4 |
| 15 | g.80152640_80152720del | CA2629872566 | FAH | c.-30+95_-30+175del (n.-30+95_-30+175del) | gnomAD v4 |
| 15 | g.80152635G>C | CA2731515065 | FAH | c.-30+90G>C (n.-30+90G>C) | dbSNP |
| 15 | g.80152635G>T | CA971893693 | FAH | c.-30+90G>T (n.-30+90G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152650_80152651insTGGGCGAGGGGAGGGGC | CA2629872567 | FAH | c.-30+105_-30+106insTGGGCGAGGGGAGGGGC (n.-30+105_-30+106insTGGGCGAGGGGAGGGGC) | gnomAD v4 |
| 15 | g.80152636G>A | CA716102408 | FAH | c.-30+91G>A (n.-30+91G>A) | dbSNP gnomAD v4 |
| 15 | g.80152636G>C | CA2629872568 | FAH | c.-30+91G>C (n.-30+91G>C) | gnomAD v4 |
| 15 | g.80152636G= | CA2190326981 | FAH | c.-30+91G= (n.-30+91G=) | |
| 15 | g.80152651_80152652insTGGCGAGGGGAGGGGCG | CA971893695 | FAH | c.-30+106_-30+107insTGGCGAGGGGAGGGGCG (n.-30+106_-30+107insTGGCGAGGGGAGGGGCG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152636_80152637insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCC | CA2505768190 | FAH | c.-30+91_-30+92insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCC (n.-30+91_-30+92insCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCC) | |
| 15 | g.80152636_80152637insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGT | CA2629872569 | FAH | c.-30+91_-30+92insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGT (n.-30+91_-30+92insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGT) | gnomAD v4 |
| 15 | g.80152637G>A | CA716102409 | FAH | c.-30+92G>A (n.-30+92G>A) | dbSNP |
| 15 | g.80152637G= | CA2190326985 | FAH | c.-30+92G= (n.-30+92G=) | |
| 15 | g.80152637G>T | CA2629872570 | FAH | c.-30+92G>T (n.-30+92G>T) | gnomAD v4 |
| 15 | g.80152638_80152639del | CA971893698 | FAH | c.-30+93_-30+94del (n.-30+93_-30+94del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152637_80152638insAGT | CA2629872574 | FAH | c.-30+92_-30+93insAGT (n.-30+92_-30+93insAGT) | gnomAD v4 |
| 15 | g.80152637_80152638insTGTTCA | CA2804915050 | FAH | c.-30+92_-30+93insTGTTCA (n.-30+92_-30+93insTGTTCA) | |
| 15 | g.80152637_80152638insAGTGGAGT | CA2804915049 | FAH | c.-30+92_-30+93insAGTGGAGT (n.-30+92_-30+93insAGTGGAGT) | |
| 15 | g.80152638C>A | CA2629872572 | FAH | c.-30+93C>A (n.-30+93C>A) | gnomAD v4 |
| 15 | g.80152638C>G | CA2543382890 | FAH | c.-30+93C>G (n.-30+93C>G) | gnomAD v4 |
| 15 | g.80152638C>T | CA2629872571 | FAH | c.-30+93C>T (n.-30+93C>T) | gnomAD v4 |
| 15 | g.80152638_80152639insCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC | CA2559322006 | FAH | c.-30+93_-30+94insCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC (n.-30+93_-30+94insCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCAC) | |
| 15 | g.80152638_80152640del | CA2629872573 | FAH | c.-30+93_-30+95del (n.-30+93_-30+95del) | gnomAD v4 |
| 15 | g.80152638_80152639insTCA | CA2731515126 | FAH | c.-30+93_-30+94insTCA (n.-30+93_-30+94insTCA) | dbSNP |
| 15 | g.80152638_80152639insTCTG | CA971893700 | FAH | c.-30+93_-30+94insTCTG (n.-30+93_-30+94insTCTG) | gnomAD v4 |
| 15 | g.80152639G>A | CA971893720 | FAH | c.-30+94G>A (n.-30+94G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152639G>C | CA971893717 | FAH | c.-30+94G>C (n.-30+94G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152639G= | CA2190326990 | FAH | c.-30+94G= (n.-30+94G=) | |
| 15 | g.80152639G>T | CA971893705 | FAH | c.-30+94G>T (n.-30+94G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152640_80152643del | CA2804915054 | FAH | c.-30+95_-30+98del (n.-30+95_-30+98del) | |
| 15 | g.80152639_80152649del | CA2804915052 | FAH | c.-30+94_-30+104del (n.-30+94_-30+104del) | |
| 15 | g.80152640_80152649del | CA2629872576 | FAH | c.-30+95_-30+104del (n.-30+95_-30+104del) | gnomAD v4 |
| 15 | g.80152654_80152655insGGAGGGGAGGGGCGGGG | CA2629872575 | FAH | c.-30+109_-30+110insGGAGGGGAGGGGCGGGG (n.-30+109_-30+110insGGAGGGGAGGGGCGGGG) | gnomAD v4 |
| 15 | g.80152639_80152640insGTGAGACCAAA | CA2804915055 | FAH | c.-30+94_-30+95insGTGAGACCAAA (n.-30+94_-30+95insGTGAGACCAAA) | |
| 15 | g.80152640A= | CA2190327003 | FAH | c.-30+95A= (n.-30+95A=) | |
| 15 | g.80152640A>C | CA971893726 | FAH | c.-30+95A>C (n.-30+95A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152640A>G | CA274010668 | FAH | c.-30+95A>G (n.-30+95A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152640A>T | CA2629872577 | FAH | c.-30+95A>T (n.-30+95A>T) | gnomAD v4 |
| 15 | g.80152669_80152737del | CA971893725 | FAH | c.-30+124_-30+192del (n.-30+124_-30+192del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152641G>A | CA2190327013 | FAH | c.-30+96G>A (n.-30+96G>A) | dbSNP gnomAD v4 |
| 15 | g.80152641G= | CA2190327011 | FAH | c.-30+96G= (n.-30+96G=) | |
| 15 | g.80152641G>T | CA716102415 | FAH | c.-30+96G>T (n.-30+96G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152641_80152644del | CA971893727 | FAH | c.-30+96_-30+99del (n.-30+96_-30+99del) | |
| 15 | g.80152644del | CA2629872579 | FAH | c.-30+99del (n.-30+99del) | gnomAD v4 |
| 15 | g.80152646_80152647insTGGCGGGGCGGGGGGAG | CA2629872578 | FAH | c.-30+101_-30+102insTGGCGGGGCGGGGGGAG (n.-30+101_-30+102insTGGCGGGGCGGGGGGAG) | gnomAD v4 |
| 15 | g.80152641_80152658delinsGGGGAGGGGCGGGGCTCA | CA2190327008 | FAH | c.-30+96_-30+113delinsGGGGAGGGGCGGGGCTCA (n.-30+96_-30+113delinsGGGGAGGGGCGGGGCTCA) | |
| 15 | g.80152642G>A | CA2190327025 | FAH | c.-30+97G>A (n.-30+97G>A) | dbSNP gnomAD v4 |
| 15 | g.80152642G>C | CA2629872580 | FAH | c.-30+97G>C (n.-30+97G>C) | gnomAD v4 |
| 15 | g.80152642G= | CA2190327022 | FAH | c.-30+97G= (n.-30+97G=) | |
| 15 | g.80152642G>T | CA971893733 | FAH | c.-30+97G>T (n.-30+97G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152649_80152665dup | CA971893731 | FAH | c.-30+104_-30+120dup (n.-30+104_-30+120dup) | gnomAD v3 gnomAD v4 |
| 15 | g.80152649_80152665del | CA619266151 | FAH | c.-30+104_-30+120del (n.-30+104_-30+120del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152649_80152734del | CA2512159832 | FAH | c.-30+104_-30+189del (n.-30+104_-30+189del) | |
| 15 | g.80152643G>A | CA2629872581 | FAH | c.-30+98G>A (n.-30+98G>A) | gnomAD v4 |
| 15 | g.80152644G>A | CA716102427 | FAH | c.-30+99G>A (n.-30+99G>A) | dbSNP gnomAD v4 |
| 15 | g.80152644G= | CA2190327027 | FAH | c.-30+99G= (n.-30+99G=) | |
| 15 | g.80152644G>T | CA2629872582 | FAH | c.-30+99G>T (n.-30+99G>T) | gnomAD v4 |
| 15 | g.80152644_80152645insTTC | CA971893737 | FAH | c.-30+99_-30+100insTTC (n.-30+99_-30+100insTTC) | gnomAD v3 gnomAD v4 |
| 15 | g.80152645del | CA2629872583 | FAH | c.-30+100del (n.-30+100del) | gnomAD v4 |
| 15 | g.80152645A= | CA2190327035 | FAH | c.-30+100A= (n.-30+100A=) | |
| 15 | g.80152645A>C | CA716102428 | FAH | c.-30+100A>C (n.-30+100A>C) | dbSNP gnomAD v4 |
| 15 | g.80152645A>G | CA274010678 | FAH | c.-30+100A>G (n.-30+100A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152645A>T | CA2629872584 | FAH | c.-30+100A>T (n.-30+100A>T) | gnomAD v4 |
| 15 | g.80152645_80152655del | CA2804915056 | FAH | c.-30+100_-30+110del (n.-30+100_-30+110del) | |
| 15 | g.80152646G>A | CA2629872586 | FAH | c.-30+101G>A (n.-30+101G>A) | gnomAD v4 |
| 15 | g.80152646G>T | CA2629872587 | FAH | c.-30+101G>T (n.-30+101G>T) | gnomAD v4 |
| 15 | g.80152651_80152707del | CA2629872585 | FAH | c.-30+106_-30+162del (n.-30+106_-30+162del) | gnomAD v4 |
| 15 | g.80152647G>T | CA971893739 | FAH | c.-30+102G>T (n.-30+102G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152648G>A | CA2629872588 | FAH | c.-30+103G>A (n.-30+103G>A) | gnomAD v4 |
| 15 | g.80152649G>A | CA971893741 | FAH | c.-30+104G>A (n.-30+104G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152649G>C | CA2629872589 | FAH | c.-30+104G>C (n.-30+104G>C) | gnomAD v4 |
| 15 | g.80152649G>T | CA971893746 | FAH | c.-30+104G>T (n.-30+104G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152649_80152701delinsGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT | CA2190327037 | FAH | c.-30+104_-30+156delinsGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT (n.-30+104_-30+156delinsGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT) | |
| 15 | g.80152650del | CA2629872590 | FAH | c.-30+105del (n.-30+105del) | gnomAD v4 |
| 15 | g.80152650C>A | CA274010696 | FAH | c.-30+105C>A (n.-30+105C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152650C= | CA2190327046 | FAH | c.-30+105C= (n.-30+105C=) | |
| 15 | g.80152650C>G | CA274010691 | FAH | c.-30+105C>G (n.-30+105C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152650C>T | CA2190327049 | FAH | c.-30+105C>T (n.-30+105C>T) | dbSNP gnomAD v4 |
| 15 | g.80152656_80152707del | CA971893754 | FAH | c.-30+111_-30+162del (n.-30+111_-30+162del) | dbSNP |
| 15 | g.80152651G>A | CA2629872591 | FAH | c.-30+106G>A (n.-30+106G>A) | gnomAD v4 |
| 15 | g.80152655_80152656insGAGGGGAGGGGAGGGGC | CA2804915057 | FAH | c.-30+110_-30+111insGAGGGGAGGGGAGGGGC (n.-30+110_-30+111insGAGGGGAGGGGAGGGGC) | |
| 15 | g.80152655_80152656insGAGGGGAGGGCGGGTGGGGC | CA2629872592 | FAH | c.-30+110_-30+111insGAGGGGAGGGCGGGTGGGGC (n.-30+110_-30+111insGAGGGGAGGGCGGGTGGGGC) | gnomAD v4 |
| 15 | g.80152652G>A | CA2629872594 | FAH | c.-30+107G>A (n.-30+107G>A) | gnomAD v4 |
| 15 | g.80152652G>T | CA971893757 | FAH | c.-30+107G>T (n.-30+107G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152655_80152656insGAGGGGAGGGGCTGGGC | CA2804915058 | FAH | c.-30+110_-30+111insGAGGGGAGGGGCTGGGC (n.-30+110_-30+111insGAGGGGAGGGGCTGGGC) | |
| 15 | g.80152655_80152661del | CA2629872593 | FAH | c.-30+110_-30+116del (n.-30+110_-30+116del) | gnomAD v4 |
| 15 | g.80152654G= | CA2190327053 | FAH | c.-30+109G= (n.-30+109G=) | |
| 15 | g.80152654G>T | CA716102430 | FAH | c.-30+109G>T (n.-30+109G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152654_80152655del | CA971893761 | FAH | c.-30+109_-30+110del (n.-30+109_-30+110del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152654_80152657del | CA971893762 | FAH | c.-30+109_-30+112del (n.-30+109_-30+112del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152654_80152658delinsGCTCA | CA2190327056 | FAH | c.-30+109_-30+113delinsGCTCA (n.-30+109_-30+113delinsGCTCA) | |
| 15 | g.80152655_80152659del | CA2629872595 | FAH | c.-30+110_-30+114del (n.-30+110_-30+114del) | gnomAD v4 |
| 15 | g.80152655del | CA2629872600 | FAH | c.-30+110del (n.-30+110del) | gnomAD v4 |
| 15 | g.80152655C>G | CA2629872597 | FAH | c.-30+110C>G (n.-30+110C>G) | gnomAD v4 |
| 15 | g.80152655C>T | CA2804915059 | FAH | c.-30+110C>T (n.-30+110C>T) | |
| 15 | g.80152655_80152656delinsCT | CA2190327058 | FAH | c.-30+110_-30+111delinsCT (n.-30+110_-30+111delinsCT) | |
| 15 | g.80152655_80152657del | CA2629872598 | FAH | c.-30+110_-30+112del (n.-30+110_-30+112del) | gnomAD v4 |
| 15 | g.80152656_80152657del | CA2629872599 | FAH | c.-30+111_-30+112del (n.-30+111_-30+112del) | gnomAD v4 |
| 15 | g.80152655_80152658del | CA919600662 | FAH | c.-30+110_-30+113del (n.-30+110_-30+113del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152655_80152660delinsCTCAGG | CA2190327059 | FAH | c.-30+110_-30+115delinsCTCAGG (n.-30+110_-30+115delinsCTCAGG) | |
| 15 | g.80152655_80152670del | CA2629872596 | FAH | c.-30+110_-30+125del (n.-30+110_-30+125del) | gnomAD v4 |
| 15 | g.80152655_80152656insG | CA2629872608 | FAH | c.-30+110_-30+111insG (n.-30+110_-30+111insG) | gnomAD v4 |
| 15 | g.80152655_80152656insGA | CA2629872607 | FAH | c.-30+110_-30+111insGA (n.-30+110_-30+111insGA) | gnomAD v4 |
| 15 | g.80152655_80152656insGAG | CA2629872606 | FAH | c.-30+110_-30+111insGAG (n.-30+110_-30+111insGAG) | gnomAD v4 |
| 15 | g.80152655_80152656insGAGGGGAGGG | CA2629872605 | FAH | c.-30+110_-30+111insGAGGGGAGGG (n.-30+110_-30+111insGAGGGGAGGG) | gnomAD v4 |
| 15 | g.80152655_80152656insGGGGGGAGGG | CA971893775 | FAH | c.-30+110_-30+111insGGGGGGAGGG (n.-30+110_-30+111insGGGGGGAGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152655_80152656insGAGGGGAGGGGGGG | CA971893773 | FAH | c.-30+110_-30+111insGAGGGGAGGGGGGG (n.-30+110_-30+111insGAGGGGAGGGGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152655_80152656insGAGGGGAGGGGCGGG | CA2629872604 | FAH | c.-30+110_-30+111insGAGGGGAGGGGCGGG (n.-30+110_-30+111insGAGGGGAGGGGCGGG) | gnomAD v4 |
| 15 | g.80152655_80152656insGAGGGGAGGGGCGGGGG | CA2804915061 | FAH | c.-30+110_-30+111insGAGGGGAGGGGCGGGGG (n.-30+110_-30+111insGAGGGGAGGGGCGGGGG) | |
| 15 | g.80152655_80152656insGAGGGGAGGGGCGGGGCGA | CA2804915062 | FAH | c.-30+110_-30+111insGAGGGGAGGGGCGGGGCGA (n.-30+110_-30+111insGAGGGGAGGGGCGGGGCGA) | |
| 15 | g.80152655_80152656insGGGGGGAGGGGCGGGGCGAGGGGAGGGGGGG | CA2629872602 | FAH | c.-30+110_-30+111insGGGGGGAGGGGCGGGGCGAGGGGAGGGGGGG (n.-30+110_-30+111insGGGGGGAGGGGCGGGGCGAGGGGAGGGGGGG) | gnomAD v4 |
| 15 | g.80152655_80152656insGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGG | CA2629872603 | FAH | c.-30+110_-30+111insGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGG (n.-30+110_-30+111insGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGG) | gnomAD v4 |
| 15 | g.80152655_80152656insGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGG | CA2629872601 | FAH | c.-30+110_-30+111insGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGG (n.-30+110_-30+111insGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGG) | gnomAD v4 |
| 15 | g.80152655_80152656insGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCG | CA2804915060 | FAH | c.-30+110_-30+111insGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCG (n.-30+110_-30+111insGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCG) | |
| 15 | g.80152656del | CA619266153 | FAH | c.-30+111del (n.-30+111del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152656T>C | CA2190327064 | FAH | c.-30+111T>C (n.-30+111T>C) | dbSNP gnomAD v4 |
| 15 | g.80152656T>G | CA274010705 | FAH | c.-30+111T>G (n.-30+111T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152656T= | CA2190327067 | FAH | c.-30+111T= (n.-30+111T=) | |
| 15 | g.80152656_80152658del | CA971893777 | FAH | c.-30+111_-30+113del (n.-30+111_-30+113del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152656_80152660del | CA619266152 | FAH | c.-30+111_-30+115del (n.-30+111_-30+115del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152656_80152712del | CA971893770 | FAH | c.-30+111_-30+167del (n.-30+111_-30+167del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152656_80152657insGGGG | CA2629872612 | FAH | c.-30+111_-30+112insGGGG (n.-30+111_-30+112insGGGG) | gnomAD v4 |
| 15 | g.80152656_80152657insGGAGGGG | CA2629872613 | FAH | c.-30+111_-30+112insGGAGGGG (n.-30+111_-30+112insGGAGGGG) | gnomAD v4 |
| 15 | g.80152656_80152657insGGGGAGGGG | CA2629872611 | FAH | c.-30+111_-30+112insGGGGAGGGG (n.-30+111_-30+112insGGGGAGGGG) | gnomAD v4 |
| 15 | g.80152657del | CA2629872610 | FAH | c.-30+112del (n.-30+112del) | gnomAD v4 |
| 15 | g.80152657C>A | CA274010711 | FAH | c.-30+112C>A (n.-30+112C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152657C= | CA2190327075 | FAH | c.-30+112C= (n.-30+112C=) | |
| 15 | g.80152657C>G | CA619266154 | FAH | c.-30+112C>G (n.-30+112C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152657C>T | CA2190327078 | FAH | c.-30+112C>T (n.-30+112C>T) | dbSNP gnomAD v4 |
| 15 | g.80152657_80152658del | CA2629872609 | FAH | c.-30+112_-30+113del (n.-30+112_-30+113del) | gnomAD v4 |
| 15 | g.80152657_80152658insG | CA971893785 | FAH | c.-30+112_-30+113insG (n.-30+112_-30+113insG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152657_80152658insGGGG | CA971893791 | FAH | c.-30+112_-30+113insGGGG (n.-30+112_-30+113insGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152657_80152658insGGGGCG | CA971893792 | FAH | c.-30+112_-30+113insGGGGCG (n.-30+112_-30+113insGGGGCG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152657_80152658insGGGGCTG | CA2629872615 | FAH | c.-30+112_-30+113insGGGGCTG (n.-30+112_-30+113insGGGGCTG) | gnomAD v4 |
| 15 | g.80152658A= | CA2190327084 | FAH | c.-30+113A= (n.-30+113A=) | |
| 15 | g.80152658A>C | CA2629872614 | FAH | c.-30+113A>C (n.-30+113A>C) | gnomAD v4 |
| 15 | g.80152658A>G | CA274010718 | FAH | c.-30+113A>G (n.-30+113A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152658A>T | CA971893796 | FAH | c.-30+113A>T (n.-30+113A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152658_80152659insAG | CA2629872620 | FAH | c.-30+113_-30+114insAG (n.-30+113_-30+114insAG) | gnomAD v4 |
| 15 | g.80152658_80152659insCGAG | CA971893849 | FAH | c.-30+113_-30+114insCGAG (n.-30+113_-30+114insCGAG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152659G>A | CA2190327096 | FAH | c.-30+114G>A (n.-30+114G>A) | dbSNP |
| 15 | g.80152659G= | CA2190327094 | FAH | c.-30+114G= (n.-30+114G=) | |
| 15 | g.80152659_80152660insAGG | CA2629872621 | FAH | c.-30+114_-30+115insAGG (n.-30+114_-30+115insAGG) | gnomAD v4 |
| 15 | g.80152659_80152660insAGGGGAGGGGCGGGGCGAGG | CA2629872616 | FAH | c.-30+114_-30+115insAGGGGAGGGGCGGGGCGAGG (n.-30+114_-30+115insAGGGGAGGGGCGGGGCGAGG) | gnomAD v4 |
| 15 | g.80152661_80152662insCGAGGGG | CA2629872622 | FAH | c.-30+116_-30+117insCGAGGGG (n.-30+116_-30+117insCGAGGGG) | gnomAD v4 |
| 15 | g.80152661_80152662insGCGGGGCGAGGGG | CA971893829 | FAH | c.-30+116_-30+117insGCGGGGCGAGGGG (n.-30+116_-30+117insGCGGGGCGAGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGCGGGGCGAGGGG | CA2629872623 | FAH | c.-30+116_-30+117insGAGGGCGGGGCGAGGGG (n.-30+116_-30+117insGAGGGCGGGGCGAGGGG) | gnomAD v4 |
| 15 | g.80152661_80152662insGAAGGGCGGGGCGAGGGG | CA971893855 | FAH | c.-30+116_-30+117insGAAGGGCGGGGCGAGGGG (n.-30+116_-30+117insGAAGGGCGGGGCGAGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGAGCGGCGGGGCGAGGGG | CA2629872624 | FAH | c.-30+116_-30+117insGAGCGGCGGGGCGAGGGG (n.-30+116_-30+117insGAGCGGCGGGGCGAGGGG) | gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGAGGGGCGAGGGG | CA2804915064 | FAH | c.-30+116_-30+117insGAGGGGAGGGGCGAGGGG (n.-30+116_-30+117insGAGGGGAGGGGCGAGGGG) | |
| 15 | g.80152661_80152662insGAGGGGCGCGGCGAGGGG | CA971893861 | FAH | c.-30+116_-30+117insGAGGGGCGCGGCGAGGGG (n.-30+116_-30+117insGAGGGGCGCGGCGAGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGCGGGGAGAGGGG | CA2629872625 | FAH | c.-30+116_-30+117insGAGGGGCGGGGAGAGGGG (n.-30+116_-30+117insGAGGGGCGGGGAGAGGGG) | gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGCGGGGCGACGGG | CA2804915063 | FAH | c.-30+116_-30+117insGAGGGGCGGGGCGACGGG (n.-30+116_-30+117insGAGGGGCGGGGCGACGGG) | |
| 15 | g.80152661_80152662insGAGGGGCGGGGCGAGGGG | CA619266155 | FAH | c.-30+116_-30+117insGAGGGGCGGGGCGAGGGG (n.-30+116_-30+117insGAGGGGCGGGGCGAGGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGCGGGGCGGGGGG | CA971893838 | FAH | c.-30+116_-30+117insGAGGGGCGGGGCGGGGGG (n.-30+116_-30+117insGAGGGGCGGGGCGGGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGGGGGGCGAGGGG | CA2629872617 | FAH | c.-30+116_-30+117insGAGGGGGGGGGCGAGGGG (n.-30+116_-30+117insGAGGGGGGGGGCGAGGGG) | gnomAD v4 |
| 15 | g.80152661_80152662insGCGGGGCGGGGCGAGGGG | CA971893811 | FAH | c.-30+116_-30+117insGCGGGGCGGGGCGAGGGG (n.-30+116_-30+117insGCGGGGCGGGGCGAGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGGGGGGCGGGGCGAGGGG | CA971893808 | FAH | c.-30+116_-30+117insGGGGGGCGGGGCGAGGGG (n.-30+116_-30+117insGGGGGGCGGGGCGAGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGCGGGGCGAGGGGGGGG | CA2629872619 | FAH | c.-30+116_-30+117insGAGGGGCGGGGCGAGGGGGGGG (n.-30+116_-30+117insGAGGGGCGGGGCGAGGGGGGGG) | gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG | CA2629872618 | FAH | c.-30+116_-30+117insGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG (n.-30+116_-30+117insGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG) | gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG | CA619266156 | FAH | c.-30+116_-30+117insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG (n.-30+116_-30+117insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG | CA619266157 | FAH | c.-30+116_-30+117insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG (n.-30+116_-30+117insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG | CA2596753470 | FAH | c.-30+116_-30+117insGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG (n.-30+116_-30+117insGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG | CA971893845 | FAH | c.-30+116_-30+117insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG (n.-30+116_-30+117insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG | CA971893843 | FAH | c.-30+116_-30+117insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG (n.-30+116_-30+117insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG | CA2596753472 | FAH | c.-30+116_-30+117insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG (n.-30+116_-30+117insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152661dup | CA971893851 | FAH | c.-30+116dup (n.-30+116dup) | gnomAD v3 gnomAD v4 |
| 15 | g.80152660_80152661dup | CA971893854 | FAH | c.-30+115_-30+116dup (n.-30+115_-30+116dup) | gnomAD v3 gnomAD v4 |
| 15 | g.80152659_80152660insT | CA2629872626 | FAH | c.-30+114_-30+115insT (n.-30+114_-30+115insT) | gnomAD v4 |
| 15 | g.80152660G>A | CA2190327101 | FAH | c.-30+115G>A (n.-30+115G>A) | dbSNP |
| 15 | g.80152660G= | CA2190327103 | FAH | c.-30+115G= (n.-30+115G=) | |
| 15 | g.80152660G>T | CA2804915065 | FAH | c.-30+115G>T (n.-30+115G>T) | |
| 15 | g.80152660_80152708del | CA619266158 | FAH | c.-30+115_-30+163del (n.-30+115_-30+163del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152660_80152661insA | CA2629872627 | FAH | c.-30+115_-30+116insA (n.-30+115_-30+116insA) | gnomAD v4 |
| 15 | g.80152661G>A | CA971893877 | FAH | c.-30+116G>A (n.-30+116G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152661_80152662insGAGGGGCGGGGCGAGGAG | CA2629872628 | FAH | c.-30+116_-30+117insGAGGGGCGGGGCGAGGAG (n.-30+116_-30+117insGAGGGGCGGGGCGAGGAG) | gnomAD v4 |
| 15 | g.80152661_80152662insGC | CA2629872629 | FAH | c.-30+116_-30+117insGC (n.-30+116_-30+117insGC) | gnomAD v4 |
| 15 | g.80152662del | CA2629872630 | FAH | c.-30+117del (n.-30+117del) | gnomAD v4 |
| 15 | g.80152662A= | CA2190327107 | FAH | c.-30+117A= (n.-30+117A=) | |
| 15 | g.80152662A>C | CA971893878 | FAH | c.-30+117A>C (n.-30+117A>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152662A>G | CA619266159 | FAH | c.-30+117A>G (n.-30+117A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152662A>T | CA2629872631 | FAH | c.-30+117A>T (n.-30+117A>T) | gnomAD v4 |
| 15 | g.80152663G>T | CA971893886 | FAH | c.-30+118G>T (n.-30+118G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGGG | CA2804915068 | FAH | c.-30+120_-30+121insGCGGGGGG (n.-30+120_-30+121insGCGGGGGG) | |
| 15 | g.80152665_80152666insGCGGGGCGAGGGG | CA2629872636 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGG (n.-30+120_-30+121insGCGGGGCGAGGGG) | gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGCGGG | CA2596753480 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGCGGG (n.-30+120_-30+121insGCGGGGCGAGGGGCGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGGGGG | CA971893884 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGGGGG (n.-30+120_-30+121insGCGGGGCGAGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGTGGG | CA2804915066 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGTGGG (n.-30+120_-30+121insGCGGGGCGAGGGGTGGG) | |
| 15 | g.80152665_80152666insGCGGGGCGGGGGGCGGG | CA2629872634 | FAH | c.-30+120_-30+121insGCGGGGCGGGGGGCGGG (n.-30+120_-30+121insGCGGGGCGGGGGGCGGG) | gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGGGGGGGGGG | CA2629872633 | FAH | c.-30+120_-30+121insGCGGGGCGGGGGGGGGG (n.-30+120_-30+121insGCGGGGCGGGGGGGGGG) | gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGGGAGGGGGGGG | CA2629872632 | FAH | c.-30+120_-30+121insGCGGGGGGAGGGGGGGG (n.-30+120_-30+121insGCGGGGGGAGGGGGGGG) | gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGG | CA2629872635 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGG (n.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGG) | gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGCGAGGGGGGGG | CA2804915067 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGCGAGGGGGGGG (n.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGCGAGGGGGGGG) | |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGGGGCGAGGGGCGGG | CA2804915069 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGGGGCGAGGGGCGGG (n.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGGGGCGAGGGGCGGG) | |
| 15 | g.80152665dup | CA971893881 | FAH | c.-30+120dup (n.-30+120dup) | gnomAD v3 gnomAD v4 |
| 15 | g.80152664G>A | CA2629872639 | FAH | c.-30+119G>A (n.-30+119G>A) | gnomAD v4 |
| 15 | g.80152664G>C | CA971893890 | FAH | c.-30+119G>C (n.-30+119G>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGG | CA2629872637 | FAH | c.-30+120_-30+121insGCGGGGCGG (n.-30+120_-30+121insGCGGGGCGG) | gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGAGAGG | CA2507261879 | FAH | c.-30+120_-30+121insGCGGGGCGAGAGG (n.-30+120_-30+121insGCGGGGCGAGAGG) | |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGATGG | CA2629872638 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGATGG (n.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGATGG) | gnomAD v4 |
| 15 | g.80152666_80152729del | CA2596753481 | FAH | c.-30+121_-30+184del (n.-30+121_-30+184del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152665G>A | CA2804915070 | FAH | c.-30+120G>A (n.-30+120G>A) | |
| 15 | g.80152665G>T | CA971893891 | FAH | c.-30+120G>T (n.-30+120G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCG | CA971893908 | FAH | c.-30+120_-30+121insGCGGGGCG (n.-30+120_-30+121insGCGGGGCG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152665_80152666insGCGGTGCG | CA2629872640 | FAH | c.-30+120_-30+121insGCGGTGCG (n.-30+120_-30+121insGCGGTGCG) | gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGAGAG | CA2629872642 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGAGAG (n.-30+120_-30+121insGCGGGGCGAGGGGAGAG) | gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGAGCG | CA2629872641 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGAGCG (n.-30+120_-30+121insGCGGGGCGAGGGGAGCG) | gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGAGTG | CA971893903 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGAGTG (n.-30+120_-30+121insGCGGGGCGAGGGGAGTG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152665_80152670delinsGAGGGT | CA2190327111 | FAH | c.-30+120_-30+125delinsGAGGGT (n.-30+120_-30+125delinsGAGGGT) | |
| 15 | g.80152666_80152679del | CA971893905 | FAH | c.-30+121_-30+134del (n.-30+121_-30+134del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152665_80152666insGC | CA971893910 | FAH | c.-30+120_-30+121insGC (n.-30+120_-30+121insGC) | gnomAD v3 gnomAD v4 |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGAGGT | CA2804915071 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGAGGT (n.-30+120_-30+121insGCGGGGCGAGGGGAGGT) | |
| 15 | g.80152665_80152666insGCGGGGCGAGGGGAGGGGCGGGGCGTGCGGCGGC | CA2629872644 | FAH | c.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGGCGTGCGGCGGC (n.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGGCGTGCGGCGGC) | gnomAD v4 |
| 15 | g.80152666del | CA971893914 | FAH | c.-30+121del (n.-30+121del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152666A= | CA2190327114 | FAH | c.-30+121A= (n.-30+121A=) | |
| 15 | g.80152666A>C | CA971893911 | FAH | c.-30+121A>C (n.-30+121A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152666A>G | CA619266160 | FAH | c.-30+121A>G (n.-30+121A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152666A>T | CA2629872643 | FAH | c.-30+121A>T (n.-30+121A>T) | gnomAD v4 |
| 15 | g.80152666_80152670del | CA971893913 | FAH | c.-30+121_-30+125del (n.-30+121_-30+125del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152667G>C | CA619266161 | FAH | c.-30+122G>C (n.-30+122G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152667G= | CA2190327120 | FAH | c.-30+122G= (n.-30+122G=) | |
| 15 | g.80152669_80152670insGAGCGCGGG | CA2629872649 | FAH | c.-30+124_-30+125insGAGCGCGGG (n.-30+124_-30+125insGAGCGCGGG) | gnomAD v4 |
| 15 | g.80152669_80152670insGGGGGCGGG | CA971893923 | FAH | c.-30+124_-30+125insGGGGGCGGG (n.-30+124_-30+125insGGGGGCGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152669_80152670insGGGGGGGGG | CA971893928 | FAH | c.-30+124_-30+125insGGGGGGGGG (n.-30+124_-30+125insGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152669_80152670insGGGGGAGGGGG | CA2629872646 | FAH | c.-30+124_-30+125insGGGGGAGGGGG (n.-30+124_-30+125insGGGGGAGGGGG) | gnomAD v4 |
| 15 | g.80152669_80152670insGAGGGGCGGGGCGAGGGGGGGGGGGG | CA2804915073 | FAH | c.-30+124_-30+125insGAGGGGCGGGGCGAGGGGGGGGGGGG (n.-30+124_-30+125insGAGGGGCGGGGCGAGGGGGGGGGGGG) | |
| 15 | g.80152669_80152670insGAGGGGGGGGGCGAGGGGGGGGGGGG | CA2629872648 | FAH | c.-30+124_-30+125insGAGGGGGGGGGCGAGGGGGGGGGGGG (n.-30+124_-30+125insGAGGGGGGGGGCGAGGGGGGGGGGGG) | gnomAD v4 |
| 15 | g.80152669_80152670insGAGGGGGGGTGAGACTGTGGAGGACCTGGGG | CA2629872647 | FAH | c.-30+124_-30+125insGAGGGGGGGTGAGACTGTGGAGGACCTGGGG (n.-30+124_-30+125insGAGGGGGGGTGAGACTGTGGAGGACCTGGGG) | gnomAD v4 |
| 15 | g.80152669_80152670insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG | CA971893921 | FAH | c.-30+124_-30+125insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG (n.-30+124_-30+125insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152669dup | CA2629872645 | FAH | c.-30+124dup (n.-30+124dup) | gnomAD v4 |
| 15 | g.80152669del | CA971893929 | FAH | c.-30+124del (n.-30+124del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152667_80152668insC | CA971893934 | FAH | c.-30+122_-30+123insC (n.-30+122_-30+123insC) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152668G>T | CA2629872651 | FAH | c.-30+123G>T (n.-30+123G>T) | gnomAD v4 |
| 15 | g.80152669_80152670insGCGG | CA2629872650 | FAH | c.-30+124_-30+125insGCGG (n.-30+124_-30+125insGCGG) | gnomAD v4 |
| 15 | g.80152669_80152670insGAGGGCGG | CA2804915074 | FAH | c.-30+124_-30+125insGAGGGCGG (n.-30+124_-30+125insGAGGGCGG) | |
| 15 | g.80152669_80152671del | CA971893937 | FAH | c.-30+124_-30+126del (n.-30+124_-30+126del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152669G>C | CA2804915075 | FAH | c.-30+124G>C (n.-30+124G>C) | |
| 15 | g.80152669G= | CA2190327129 | FAH | c.-30+124G= (n.-30+124G=) | |
| 15 | g.80152669G>T | CA2190327128 | FAH | c.-30+124G>T (n.-30+124G>T) | dbSNP gnomAD v4 |
| 15 | g.80152669_80152670insGAGTGAGTG | CA2629872652 | FAH | c.-30+124_-30+125insGAGTGAGTG (n.-30+124_-30+125insGAGTGAGTG) | gnomAD v4 |
| 15 | g.80152669_80152670delinsGT | CA2190327127 | FAH | c.-30+124_-30+125delinsGT (n.-30+124_-30+125delinsGT) | |
| 15 | g.80152669_80152676delinsGTGAGACT | CA2190327125 | FAH | c.-30+124_-30+131delinsGTGAGACT (n.-30+124_-30+131delinsGTGAGACT) | |
| 15 | g.80152670del | CA971893966 | FAH | c.-30+125del (n.-30+125del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152670T>A | CA619266162 | FAH | c.-30+125T>A (n.-30+125T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152670T>C | CA971893951 | FAH | c.-30+125T>C (n.-30+125T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152670T>G | CA619266163 | FAH | c.-30+125T>G (n.-30+125T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152670T= | CA2190327133 | FAH | c.-30+125T= (n.-30+125T=) | |
| 15 | g.80152670_80152676del | CA971893949 | FAH | c.-30+125_-30+131del (n.-30+125_-30+131del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152670_80152687del | CA971893964 | FAH | c.-30+125_-30+142del (n.-30+125_-30+142del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152671G>A | CA971893985 | FAH | c.-30+126G>A (n.-30+126G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152671G>C | CA2629872653 | FAH | c.-30+126G>C (n.-30+126G>C) | gnomAD v4 |
| 15 | g.80152671G>T | CA2804915078 | FAH | c.-30+126G>T (n.-30+126G>T) | |
| 15 | g.80152671dup | CA2804915076 | FAH | c.-30+126dup (n.-30+126dup) | |
| 15 | g.80152673_80152674del | CA2804915077 | FAH | c.-30+128_-30+129del (n.-30+128_-30+129del) | |
| 15 | g.80152672A>C | CA619266164 | FAH | c.-30+127A>C (n.-30+127A>C) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152672A>G | CA971893989 | FAH | c.-30+127A>G (n.-30+127A>G) | gnomAD v3 gnomAD v4 |
| 15 | g.80152672A>T | CA2629872654 | FAH | c.-30+127A>T (n.-30+127A>T) | gnomAD v4 |
| 15 | g.80152673G>A | CA971893993 | FAH | c.-30+128G>A (n.-30+128G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152673G>C | CA2629872657 | FAH | c.-30+128G>C (n.-30+128G>C) | gnomAD v4 |
| 15 | g.80152673G= | CA2190327136 | FAH | c.-30+128G= (n.-30+128G=) | |
| 15 | g.80152673G>T | CA971893992 | FAH | c.-30+128G>T (n.-30+128G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152673_80152674insGGGGGGGGCG | CA2629872655 | FAH | c.-30+128_-30+129insGGGGGGGGCG (n.-30+128_-30+129insGGGGGGGGCG) | gnomAD v4 |
| 15 | g.80152673_80152674insGGGGGGGGGG | CA971893991 | FAH | c.-30+128_-30+129insGGGGGGGGGG (n.-30+128_-30+129insGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152673_80152675delinsGAC | CA2190327137 | FAH | c.-30+128_-30+130delinsGAC (n.-30+128_-30+130delinsGAC) | |
| 15 | g.80152674_80152688del | CA2629872656 | FAH | c.-30+129_-30+143del (n.-30+129_-30+143del) | gnomAD v4 |
| 15 | g.80152673_80152674insGGCGGGTGGT | CA2629872658 | FAH | c.-30+128_-30+129insGGCGGGTGGT (n.-30+128_-30+129insGGCGGGTGGT) | gnomAD v4 |
| 15 | g.80152674del | CA2502586808 | FAH | c.-30+129del (n.-30+129del) | |
| 15 | g.80152674A>C | CA2629872659 | FAH | c.-30+129A>C (n.-30+129A>C) | gnomAD v4 |
| 15 | g.80152674A>G | CA971893996 | FAH | c.-30+129A>G (n.-30+129A>G) | gnomAD v3 gnomAD v4 |
| 15 | g.80152674A>T | CA2559598051 | FAH | c.-30+129A>T (n.-30+129A>T) | gnomAD v4 |
| 15 | g.80152674_80152675del | CA2190327139 | FAH | c.-30+129_-30+130del (n.-30+129_-30+130del) | dbSNP gnomAD v4 |
| 15 | g.80152674_80152676del | CA971893995 | FAH | c.-30+129_-30+131del (n.-30+129_-30+131del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152674_80152675insAAC | CA971893998 | FAH | c.-30+129_-30+130insAAC (n.-30+129_-30+130insAAC) | gnomAD v3 gnomAD v4 |
| 15 | g.80152675C>A | CA2533339667 | FAH | c.-30+130C>A (n.-30+130C>A) | gnomAD v4 |
| 15 | g.80152675C>G | CA971893997 | FAH | c.-30+130C>G (n.-30+130C>G) | gnomAD v3 gnomAD v4 |
| 15 | g.80152675C>T | CA2629872660 | FAH | c.-30+130C>T (n.-30+130C>T) | gnomAD v4 |
| 15 | g.80152675_80152677delinsCTG | CA2190327141 | FAH | c.-30+130_-30+132delinsCTG (n.-30+130_-30+132delinsCTG) |