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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.80152466_80152532del | CA2804914970 | |||
| 15 | g.80152470_80152571del | CA971892794 | gnomAD v3 gnomAD v4 | ||
| 15 | g.80152476_80152577del | CA971892841 | gnomAD v3 gnomAD v4 | ||
| 15 | g.80152495_80152779del | CA2804914975 | |||
| 15 | g.80152480_80152546del | CA2507797179 | |||
| 15 | g.80152478_80152561del | CA971892863 | 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.80152480_80152613delinsGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA | CA2190326472 | |||
| 15 | g.80152489_80152621del | CA971892884 | dbSNP gnomAD v3 gnomAD v4 | ||
| 15 | g.80152482_80152549del | CA2629872412 | gnomAD v4 | ||
| 15 | g.80152487_80152554del | CA2804914979 | |||
| 15 | g.80152508_80152574del | CA619266122 | gnomAD v2 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.80152491_80152556del | CA971892998 | FAH | c.-84_-30+11del | 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_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.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.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.80152519_80152585del | CA971893187 | FAH | c.-56_-30+40del | gnomAD v3 gnomAD v4 |
| 15 | g.80152518_80152522del | CA971893195 | FAH | c.-57_-53del (n.-57_-53del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152519_80152525del | CA2804914996 | FAH | c.-56_-50del (n.-56_-50del) | |
| 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) | |
| 15 | g.80152563G>T | CA2629872477 | FAH | c.-30+18G>T (n.-30+18G>T) | gnomAD v4 |
| 15 | g.80152566del | CA971893363 | FAH | c.-30+21del (n.-30+21del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152564_80152566del | CA971893365 | FAH | c.-30+19_-30+21del (n.-30+19_-30+21del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152575_80152792del | CA971893366 | FAH | c.-30+30_-29-234del (n.-30+30_-29-234del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152564G>T | CA2629872478 | FAH | c.-30+19G>T (n.-30+19G>T) | gnomAD v4 |
| 15 | g.80152565G>A | CA2629872479 | FAH | c.-30+20G>A (n.-30+20G>A) | gnomAD v4 |
| 15 | g.80152565G>C | CA971893372 | FAH | c.-30+20G>C (n.-30+20G>C) | 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.80152566G>A | CA2629872480 | FAH | c.-30+21G>A (n.-30+21G>A) | gnomAD v4 |
| 15 | g.80152566G>T | CA2629872481 | FAH | c.-30+21G>T (n.-30+21G>T) | gnomAD v4 |
| 15 | g.80152567C>A | CA2629872482 | FAH | c.-30+22C>A (n.-30+22C>A) | gnomAD v4 |
| 15 | g.80152567C= | CA2190326762 | FAH | c.-30+22C= (n.-30+22C=) | |
| 15 | g.80152567C>G | CA971893395 | FAH | c.-30+22C>G (n.-30+22C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.80152567C>T | CA2522713115 | FAH | c.-30+22C>T (n.-30+22C>T) | gnomAD v4 |
| 15 | g.80152568G>A | CA971893404 | FAH | c.-30+23G>A (n.-30+23G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.80152568G>C | CA971893405 | FAH | c.-30+23G>C (n.-30+23G>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152568G>T | CA2629872483 | FAH | c.-30+23G>T (n.-30+23G>T) | gnomAD v4 |
| 15 | g.80152569G>A | CA2190326765 | FAH | c.-30+24G>A (n.-30+24G>A) | dbSNP gnomAD v4 |
| 15 | g.80152569G= | CA2190326766 | FAH | c.-30+24G= (n.-30+24G=) | |
| 15 | g.80152569G>T | CA971893407 | FAH | c.-30+24G>T (n.-30+24G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.80152570G>A | CA2629872484 | FAH | c.-30+25G>A (n.-30+25G>A) | gnomAD v4 |
| 15 | g.80152570_80152571insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTA | CA2629872488 | FAH | c.-30+25_-30+26insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTA (n.-30+25_-30+26insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTA) | gnomAD v4 |
| 15 | g.80152571G>A | CA2629872486 | FAH | c.-30+26G>A (n.-30+26G>A) | gnomAD v4 |
| 15 | g.80152571G>T | CA2629872487 | FAH | c.-30+26G>T (n.-30+26G>T) | gnomAD v4 |
| 15 | g.80152571_80152574del | CA2629872485 | FAH | c.-30+26_-30+29del (n.-30+26_-30+29del) | gnomAD v4 |
| 15 | g.80152571_80152572insTGTT | CA971893427 | FAH | c.-30+26_-30+27insTGTT (n.-30+26_-30+27insTGTT) | gnomAD v3 gnomAD v4 |
| 15 | g.80152572C>A | CA2629872489 | FAH | c.-30+27C>A (n.-30+27C>A) | gnomAD v4 |
| 15 | g.80152572C>G | CA2629872490 | FAH | c.-30+27C>G (n.-30+27C>G) | gnomAD v4 |
| 15 | g.80152572_80152573insACGGTGAGACCAAAAG | CA971893431 | FAH | c.-30+27_-30+28insACGGTGAGACCAAAAG (n.-30+27_-30+28insACGGTGAGACCAAAAG) | gnomAD v3 gnomAD v4 |
| 15 | g.80152572_80152573insCGGGCCTGACCACAGCGGCCGAGT | CA2523886697 | FAH | c.-30+27_-30+28insCGGGCCTGACCACAGCGGCCGAGT (n.-30+27_-30+28insCGGGCCTGACCACAGCGGCCGAGT) | |
| 15 | g.80152573del | CA971893435 | FAH | c.-30+28del (n.-30+28del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152573T>A | CA2190326772 | FAH | c.-30+28T>A (n.-30+28T>A) | dbSNP |
| 15 | g.80152573T>C | CA971893437 | FAH | c.-30+28T>C (n.-30+28T>C) | gnomAD v3 gnomAD v4 |
| 15 | g.80152573T>G | CA619266138 | FAH | c.-30+28T>G (n.-30+28T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152573T= | CA2190326771 | FAH | c.-30+28T= (n.-30+28T=) | |
| 15 | g.80152573_80152577del | CA971893436 | FAH | c.-30+28_-30+32del (n.-30+28_-30+32del) | gnomAD v3 gnomAD v4 |
| 15 | g.80152574C>A | CA619266139 | FAH | c.-30+29C>A (n.-30+29C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80152574C= | CA2190326778 | FAH | c.-30+29C= (n.-30+29C=) | |
| 15 | g.80152574C>G | CA2629872492 | FAH | c.-30+29C>G (n.-30+29C>G) | gnomAD v4 |
| 15 | g.80152574C>T | CA2629872491 | FAH | c.-30+29C>T (n.-30+29C>T) | 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) |