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.80152497_80152513del | CA971892997 | FAH | c.-78_-62del (n.-78_-62del)
| gnomAD v3 gnomAD v4 |
15 | g.80152491_80152556del | CA971892998 | FAH | c.-84_-30+11del
| gnomAD v3 gnomAD v4 |
15 | g.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.80152495_80152508delinsAGGGGCGGGGCTCG | CA2190326545 | FAH | c.-80_-67delinsAGGGGCGGGGCTCG (n.-80_-67delinsAGGGGCGGGGCTCG)
| |
15 | g.80152499_80152511del | CA971893034 | FAH | c.-76_-64del (n.-76_-64del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152506_80152621del | CA971893059 | FAH | c.-69_-30+76del
| gnomAD v3 gnomAD v4 |
15 | g.80152502_80152512delinsGGGCTCGGGGA | CA2190326564 | FAH | c.-73_-63delinsGGGCTCGGGGA (n.-73_-63delinsGGGCTCGGGGA)
| |
15 | g.80152504_80152513del | CA971893099 | FAH | c.-71_-62del (n.-71_-62del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152506_80152510del | CA971893121 | FAH | c.-69_-65del (n.-69_-65del)
| gnomAD v3 gnomAD v4 |
15 | g.80152506_80152514del | CA2804914986 | FAH | c.-69_-61del (n.-69_-61del)
| |
15 | g.80152507_80152508delinsCG | CA2190326573 | FAH | c.-68_-67delinsCG (n.-68_-67delinsCG)
| |
15 | g.80152507_80152509del | CA2804914988 | FAH | c.-68_-66del (n.-68_-66del)
| |
15 | g.80152508G>A | CA619266126 | FAH | c.-67G>A (n.-67G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152508G>C | CA2629872437 | FAH | c.-67G>C (n.-67G>C)
| gnomAD v4 |
15 | g.80152508G= | CA2190326579 | FAH | c.-67G= (n.-67G=)
| |
15 | g.80152508G>T | CA619266127 | FAH | c.-67G>T (n.-67G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152511_80152512insTTCGGGGG | CA2804914990 | FAH | c.-64_-63insTTCGGGGG (n.-64_-63insTTCGGGGG)
| |
15 | g.80152511del | CA2190326577 | FAH | c.-64del (n.-64del)
| dbSNP |
15 | g.80152508_80152513del | CA971893129 | FAH | c.-67_-62del (n.-67_-62del)
| gnomAD v3 gnomAD v4 |
15 | g.80152508_80152527del | CA2804914991 | FAH | c.-67_-48del (n.-67_-48del)
| |
15 | g.80152508_80152575delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCA | CA2190326585 | FAH | c.-67_-30+30delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCA
| |
15 | g.80152508_80152658delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA | CA2190326586 | FAH | c.-67_-30+113delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA
| |
15 | g.80152508_80152509insTTCC | CA2804914993 | FAH | c.-67_-66insTTCC (n.-67_-66insTTCC)
| |
15 | g.80152509G>A | CA2629872438 | FAH | c.-66G>A (n.-66G>A)
| gnomAD v4 |
15 | g.80152509G>T | CA2629872439 | FAH | c.-66G>T (n.-66G>T)
| gnomAD v4 |
15 | g.80152509_80152556del | CA2524935846 | FAH | c.-66_-30+11del
| gnomAD v4 |
15 | g.80152514_80152580del | CA971893142 | FAH | c.-61_-30+35del
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152514_80152663del | CA971893139 | FAH | c.-61_-30+118del
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152510G>A | CA2629872440 | FAH | c.-65G>A (n.-65G>A)
| gnomAD v4 |
15 | g.80152510G>T | CA2629872441 | FAH | c.-65G>T (n.-65G>T)
| gnomAD v4 |
15 | g.80152512_80152518del | CA971893146 | FAH | c.-63_-57del (n.-63_-57del)
| gnomAD v3 gnomAD v4 |
15 | g.80152510_80152511insCGGGC | CA2572817241 | FAH | c.-65_-64insCGGGC (n.-65_-64insCGGGC)
| |
15 | g.80152511G>A | CA971893151 | FAH | c.-64G>A (n.-64G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152511G>C | CA2629872442 | FAH | c.-64G>C (n.-64G>C)
| gnomAD v4 |
15 | g.80152511G= | CA2190326594 | FAH | c.-64G= (n.-64G=)
| |
15 | g.80152511G>T | CA2629872443 | FAH | c.-64G>T (n.-64G>T)
| gnomAD v4 |
15 | g.80152511_80152512insTTCGGGGGC | CA971893157 | FAH | c.-64_-63insTTCGGGGGC (n.-64_-63insTTCGGGGGC)
| gnomAD v3 gnomAD v4 |
15 | g.80152512A= | CA2190326596 | FAH | c.-63A= (n.-63A=)
| |
15 | g.80152512A>C | CA2596753426 | FAH | c.-63A>C (n.-63A>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152512A>G | CA2629872444 | FAH | c.-63A>G (n.-63A>G)
| gnomAD v4 |
15 | g.80152512A>T | CA2190326598 | FAH | c.-63A>T (n.-63A>T)
| dbSNP gnomAD v4 |
15 | g.80152514del | CA971893164 | FAH | c.-61del (n.-61del)
| gnomAD v3 gnomAD v4 |
15 | g.80152514T>A | CA971893168 | FAH | c.-61T>A (n.-61T>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152514T>C | CA2629872445 | FAH | c.-61T>C (n.-61T>C)
| gnomAD v4 |
15 | g.80152514T>G | CA619266128 | FAH | c.-61T>G (n.-61T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152514T= | CA2190326603 | FAH | c.-61T= (n.-61T=)
| |
15 | g.80152514_80152516del | CA971893163 | FAH | c.-61_-59del (n.-61_-59del)
| gnomAD v3 gnomAD v4 |
15 | g.80152514_80152525del | CA971893169 | FAH | c.-61_-50del (n.-61_-50del)
| gnomAD v3 gnomAD v4 |
15 | g.80152514_80152658del | CA971893183 | FAH | c.-61_-30+113del
| gnomAD v3 gnomAD v4 |
15 | g.80152515G>C | CA2629872446 | FAH | c.-60G>C (n.-60G>C)
| gnomAD v4 |
15 | g.80152515_80152520delinsGAGGCA | CA2190326611 | FAH | c.-60_-55delinsGAGGCA (n.-60_-55delinsGAGGCA)
| |
15 | g.80152519_80152585del | CA971893187 | FAH | c.-56_-30+40del
| gnomAD v3 gnomAD v4 |
15 | g.80152515_80152516insC | CA971893190 | FAH | c.-60_-59insC (n.-60_-59insC)
| gnomAD v3 gnomAD v4 |
15 | g.80152516del | CA971893193 | FAH | c.-59del (n.-59del)
| gnomAD v3 gnomAD v4 |
15 | g.80152516A= | CA2190326612 | FAH | c.-59A= (n.-59A=)
| |
15 | g.80152516A>C | CA971893208 | FAH | c.-59A>C (n.-59A>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152516A>G | CA971893209 | FAH | c.-59A>G (n.-59A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152518_80152522del | CA971893195 | FAH | c.-57_-53del (n.-57_-53del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152517G>A | CA2190326615 | FAH | c.-58G>A (n.-58G>A)
| dbSNP |
15 | g.80152517G= | CA2190326616 | FAH | c.-58G= (n.-58G=)
| |
15 | g.80152518dup | CA274010632 | FAH | c.-57dup (n.-57dup)
| dbSNP |
15 | g.80152518G>A | CA2629872447 | FAH | c.-57G>A (n.-57G>A)
| gnomAD v4 |
15 | g.80152518G>T | CA2629872448 | FAH | c.-57G>T (n.-57G>T)
| gnomAD v4 |
15 | g.80152518_80152520del | CA971893216 | FAH | c.-57_-55del (n.-57_-55del)
| gnomAD v3 gnomAD v4 |
15 | g.80152519C>A | CA619266129 | FAH | c.-56C>A (n.-56C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152519C= | CA2190326617 | FAH | c.-56C= (n.-56C=)
| |
15 | g.80152519C>G | CA971893234 | FAH | c.-56C>G (n.-56C>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152519_80152520del | CA971893225 | FAH | c.-56_-55del (n.-56_-55del)
| gnomAD v3 gnomAD v4 |
15 | g.80152519_80152525del | CA2804914996 | FAH | c.-56_-50del (n.-56_-50del)
| |
15 | g.80152520A= | CA2190326621 | FAH | c.-55A= (n.-55A=)
| |
15 | g.80152520A>C | CA2629872449 | FAH | c.-55A>C (n.-55A>C)
| gnomAD v4 |
15 | g.80152520A>G | CA619266130 | FAH | c.-55A>G (n.-55A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152520A>T | CA716102354 | FAH | c.-55A>T (n.-55A>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152520_80152521insG | CA2804914999 | FAH | c.-55_-54insG (n.-55_-54insG)
| |
15 | g.80152521A>C | CA971893248 | FAH | c.-54A>C (n.-54A>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152521A>G | CA971893249 | FAH | c.-54A>G (n.-54A>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152523_80152558del | CA971893243 | FAH | c.-52_-30+13del
| gnomAD v3 gnomAD v4 |
15 | g.80152522G= | CA2190326625 | FAH | c.-53G= (n.-53G=)
| |
15 | g.80152522G>T | CA716102356 | FAH | c.-53G>T (n.-53G>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152523A= | CA2190326631 | FAH | c.-52A= (n.-52A=)
| |
15 | g.80152523A>C | CA2596753431 | FAH | c.-52A>C (n.-52A>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152523A>G | CA971893253 | FAH | c.-52A>G (n.-52A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152523_80152525del | CA971893251 | FAH | c.-52_-50del (n.-52_-50del)
| gnomAD v3 gnomAD v4 |
15 | g.80152524C>A | CA2190326636 | FAH | c.-51C>A (n.-51C>A)
| dbSNP |
15 | g.80152524C= | CA2190326635 | FAH | c.-51C= (n.-51C=)
| |
15 | g.80152525T>C | CA2629872450 | FAH | c.-50T>C (n.-50T>C)
| gnomAD v4 |
15 | g.80152525T>G | CA2190326639 | FAH | c.-50T>G (n.-50T>G)
| dbSNP |
15 | g.80152525T= | CA2190326640 | FAH | c.-50T= (n.-50T=)
| |
15 | g.80152525_80152526dup | CA971893254 | FAH | c.-50_-49dup (n.-50_-49dup)
| gnomAD v3 gnomAD v4 |
15 | g.80152526G>A | CA2190326644 | FAH | c.-49G>A (n.-49G>A)
| dbSNP |
15 | g.80152526G= | CA2190326643 | FAH | c.-49G= (n.-49G=)
| |
15 | g.80152527G>A | CA716102357 | FAH | c.-48G>A (n.-48G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152527G>C | CA716102358 | FAH | c.-48G>C (n.-48G>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152527G= | CA2190326648 | FAH | c.-48G= (n.-48G=)
| |
15 | g.80152527G>T | CA619266131 | FAH | c.-48G>T (n.-48G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152528A= | CA2190326651 | FAH | c.-47A= (n.-47A=)
| |
15 | g.80152528A>C | CA971893262 | FAH | c.-47A>C (n.-47A>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152528A>G | CA971893264 | FAH | c.-47A>G (n.-47A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152528A>T | CA971893259 | FAH | c.-47A>T (n.-47A>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152529G>A | CA2629872452 | FAH | c.-46G>A (n.-46G>A)
| gnomAD v4 |
15 | g.80152529G>T | CA2629872451 | FAH | c.-46G>T (n.-46G>T)
| gnomAD v4 |
15 | g.80152530G>A | CA2629872453 | FAH | c.-45G>A (n.-45G>A)
| gnomAD v4 |
15 | g.80152531G>A | CA274010637 | FAH | c.-44G>A (n.-44G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152531G>C | CA716102362 | FAH | c.-44G>C (n.-44G>C)
| dbSNP |
15 | g.80152531G= | CA2190326654 | FAH | c.-44G= (n.-44G=)
| |
15 | g.80152531G>T | CA2190326655 | FAH | c.-44G>T (n.-44G>T)
| dbSNP |
15 | g.80152532_80152614del | CA2804915001 | FAH | c.-43_-30+69del
| |
15 | g.80152532C>A | CA2804915002 | FAH | c.-43C>A (n.-43C>A)
| |
15 | g.80152532C>G | CA2629872454 | FAH | c.-43C>G (n.-43C>G)
| gnomAD v4 |
15 | g.80152533C>A | CA2629872455 | FAH | c.-42C>A (n.-42C>A)
| gnomAD v4 |
15 | g.80152533C>T | CA2629872456 | FAH | c.-42C>T (n.-42C>T)
| gnomAD v4 |
15 | g.80152534T>C | CA716102363 | FAH | c.-41T>C (n.-41T>C)
| dbSNP gnomAD v4 |
15 | g.80152534T>G | CA716102364 | FAH | c.-41T>G (n.-41T>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152534T= | CA2190326658 | FAH | c.-41T= (n.-41T=)
| |
15 | g.80152535G>C | CA2190326663 | FAH | c.-40G>C (n.-40G>C)
| dbSNP |
15 | g.80152535G= | CA2190326662 | FAH | c.-40G= (n.-40G=)
| |
15 | g.80152535G>T | CA2629872457 | FAH | c.-40G>T (n.-40G>T)
| gnomAD v4 |
15 | g.80152536_80152537del | CA971893272 | FAH | c.-39_-38del (n.-39_-38del)
| gnomAD v3 gnomAD v4 |
15 | g.80152536G>A | CA971893276 | FAH | c.-39G>A (n.-39G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152536G>T | CA2629872458 | FAH | c.-39G>T (n.-39G>T)
| gnomAD v4 |
15 | g.80152537G>A | CA716102366 | FAH | c.-38G>A (n.-38G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152537G= | CA2190326667 | FAH | c.-38G= (n.-38G=)
| |
15 | g.80152537G>T | CA2629872459 | FAH | c.-38G>T (n.-38G>T)
| gnomAD v4 |
15 | g.80152538A= | CA2190326671 | FAH | c.-37A= (n.-37A=)
| |
15 | g.80152538A>C | CA971893280 | FAH | c.-37A>C (n.-37A>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152538A>G | CA971893281 | FAH | c.-37A>G (n.-37A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152539C>T | CA2629872460 | FAH | c.-36C>T (n.-36C>T)
| gnomAD v4 |
15 | g.80152539_80152551del | CA971893282 | FAH | c.-36_-30+6del
| gnomAD v3 gnomAD v4 |
15 | g.80152540T>A | CA2804915004 | FAH | c.-35T>A (n.-35T>A)
| |
15 | g.80152540T>C | CA971893284 | FAH | c.-35T>C (n.-35T>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152540T= | CA2190326674 | FAH | c.-35T= (n.-35T=)
| |
15 | g.80152541C= | CA2190326675 | FAH | c.-34C= (n.-34C=)
| |
15 | g.80152541C>G | CA2190326676 | FAH | c.-34C>G (n.-34C>G)
| dbSNP gnomAD v4 |
15 | g.80152542T>A | CA971893287 | FAH | c.-33T>A (n.-33T>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152542T>G | CA971893288 | FAH | c.-33T>G (n.-33T>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152543C>A | CA274010644 | FAH | c.-32C>A (n.-32C>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152543C= | CA2190326678 | FAH | c.-32C= (n.-32C=)
| |
15 | g.80152543C>G | CA2190326681 | FAH | c.-32C>G (n.-32C>G)
| dbSNP |
15 | g.80152543C>T | CA716102367 | FAH | c.-32C>T (n.-32C>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152544G>A | CA2629872461 | FAH | c.-31G>A (n.-31G>A)
| gnomAD v4 |
15 | g.80152544G>C | CA2499704720 | FAH | c.-31G>C (n.-31G>C)
| |
15 | g.80152544G= | CA2190326686 | FAH | c.-31G= (n.-31G=)
| |
15 | g.80152544G>T | CA971893292 | FAH | c.-31G>T (n.-31G>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152545G>A | CA2190326690 | FAH | c.-30G>A (n.-30G>A)
| dbSNP |
15 | g.80152545G= | CA2190326689 | FAH | c.-30G= (n.-30G=)
| |
15 | g.80152546G>A | CA971893294 | FAH | c.-30+1G>A (n.-30+1G>A)
| gnomAD v3 gnomAD v4 |
15 | g.80152547T>C | CA2629872462 | FAH | c.-30+2T>C (n.-30+2T>C)
| gnomAD v4 |
15 | g.80152547T>G | CA971893299 | FAH | c.-30+2T>G (n.-30+2T>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152547T= | CA2190326698 | FAH | c.-30+2T= (n.-30+2T=)
| |
15 | g.80152547_80152549del | CA2731514747 | FAH | c.-30+2_-30+4del (n.-30+2_-30+4del)
| dbSNP |
15 | g.80152548A= | CA2190326702 | FAH | c.-30+3A= (n.-30+3A=)
| |
15 | g.80152548A>C | CA971893304 | FAH | c.-30+3A>C (n.-30+3A>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152548A>G | CA971893306 | FAH | c.-30+3A>G (n.-30+3A>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152549C>A | CA2629872463 | FAH | c.-30+4C>A (n.-30+4C>A)
| gnomAD v4 |
15 | g.80152549C>G | CA2629872464 | FAH | c.-30+4C>G (n.-30+4C>G)
| gnomAD v4 |
15 | g.80152550C>A | CA619266132 | FAH | c.-30+5C>A (n.-30+5C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152550C= | CA2190326705 | FAH | c.-30+5C= (n.-30+5C=)
| |
15 | g.80152551C>A | CA2629872465 | FAH | c.-30+6C>A (n.-30+6C>A)
| gnomAD v4 |
15 | g.80152551C= | CA2190326708 | FAH | c.-30+6C= (n.-30+6C=)
| |
15 | g.80152551C>G | CA971893312 | FAH | c.-30+6C>G (n.-30+6C>G)
| dbSNP |
15 | g.80152551C>T | CA971893315 | FAH | c.-30+6C>T (n.-30+6C>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152552G>A | CA2629872467 | FAH | c.-30+7G>A (n.-30+7G>A)
| gnomAD v4 |
15 | g.80152552G>C | CA716102370 | FAH | c.-30+7G>C (n.-30+7G>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152552G= | CA2190326713 | FAH | c.-30+7G= (n.-30+7G=)
| |
15 | g.80152552G>T | CA619266133 | FAH | c.-30+7G>T (n.-30+7G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152554dup | CA971893322 | FAH | c.-30+9dup (n.-30+9dup)
| gnomAD v3 gnomAD v4 |
15 | g.80152554del | CA2804915007 | FAH | c.-30+9del (n.-30+9del)
| |
15 | g.80152555_80152565del | CA2629872466 | FAH | c.-30+10_-30+20del (n.-30+10_-30+20del)
| gnomAD v4 |
15 | g.80152556_80152621del | CA2629872468 | FAH | c.-30+11_-30+76del (n.-30+11_-30+76del)
| gnomAD v4 |
15 | g.80152556_80152638del | CA971893325 | FAH | c.-30+11_-30+93del (n.-30+11_-30+93del)
| gnomAD v3 gnomAD v4 |
15 | g.80152556_80152707del | CA971893327 | FAH | c.-30+11_-30+162del (n.-30+11_-30+162del)
| gnomAD v3 gnomAD v4 |
15 | g.80152562_80152779del | CA971893330 | FAH | c.-30+17_-30+234del (n.-30+17_-30+234del)
| gnomAD v3 gnomAD v4 |
15 | g.80152553G>A | CA619266134 | FAH | c.-30+8G>A (n.-30+8G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152553G= | CA2190326715 | FAH | c.-30+8G= (n.-30+8G=)
| |
15 | g.80152553G>T | CA2629872469 | FAH | c.-30+8G>T (n.-30+8G>T)
| gnomAD v4 |
15 | g.80152554G>T | CA2629872470 | FAH | c.-30+9G>T (n.-30+9G>T)
| gnomAD v4 |
15 | g.80152555C>A | CA2629872471 | FAH | c.-30+10C>A (n.-30+10C>A)
| gnomAD v4 |
15 | g.80152555C= | CA2190326717 | FAH | c.-30+10C= (n.-30+10C=)
| |
15 | g.80152555C>G | CA2190326718 | FAH | c.-30+10C>G (n.-30+10C>G)
| dbSNP gnomAD v4 |
15 | g.80152555C>T | CA2549273827 | FAH | c.-30+10C>T (n.-30+10C>T)
| gnomAD v4 |
15 | g.80152556C>A | CA619266135 | FAH | c.-30+11C>A (n.-30+11C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152556C= | CA2190326721 | FAH | c.-30+11C= (n.-30+11C=)
| |
15 | g.80152556C>G | CA716102372 | FAH | c.-30+11C>G (n.-30+11C>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152556C>T | CA971893340 | FAH | c.-30+11C>T (n.-30+11C>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152556_80152639delinsCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG | CA2190326724 | FAH | c.-30+11_-30+94delinsCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG (n.-30+11_-30+94delinsCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG)
| |
15 | g.80152557A= | CA2190326729 | FAH | c.-30+12A= (n.-30+12A=)
| |
15 | g.80152557A>C | CA2629872472 | FAH | c.-30+12A>C (n.-30+12A>C)
| gnomAD v4 |
15 | g.80152557A>G | CA716102375 | FAH | c.-30+12A>G (n.-30+12A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152557A>T | CA2596753437 | FAH | c.-30+12A>T (n.-30+12A>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152573_80152638del | CA971893345 | FAH | c.-30+28_-30+93del (n.-30+28_-30+93del)
| gnomAD v3 gnomAD v4 |
15 | g.80152587_80152669del | CA971893349 | FAH | c.-30+42_-30+124del (n.-30+42_-30+124del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152586_80152737del | CA619266136 | FAH | c.-30+41_-30+192del (n.-30+41_-30+192del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152558G>A | CA2190326731 | FAH | c.-30+13G>A (n.-30+13G>A)
| dbSNP |
15 | g.80152558G= | CA2190326733 | FAH | c.-30+13G= (n.-30+13G=)
| |
15 | g.80152558G>T | CA2596753438 | FAH | c.-30+13G>T (n.-30+13G>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152561del | CA971893356 | FAH | c.-30+16del (n.-30+16del)
| gnomAD v3 gnomAD v4 |
15 | g.80152559G>A | CA716102377 | FAH | c.-30+14G>A (n.-30+14G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152559G= | CA2190326739 | FAH | c.-30+14G= (n.-30+14G=)
| |
15 | g.80152559G>T | CA2629872473 | FAH | c.-30+14G>T (n.-30+14G>T)
| gnomAD v4 |
15 | g.80152566_80152665del | CA2804915015 | FAH | c.-30+21_-30+120del (n.-30+21_-30+120del)
| |
15 | g.80152560G>A | CA2629872474 | FAH | c.-30+15G>A (n.-30+15G>A)
| gnomAD v4 |
15 | g.80152561G>A | CA716102378 | FAH | c.-30+16G>A (n.-30+16G>A)
| dbSNP |
15 | g.80152561G= | CA2190326742 | FAH | c.-30+16G= (n.-30+16G=)
| |
15 | g.80152561G>T | CA2629872475 | FAH | c.-30+16G>T (n.-30+16G>T)
| gnomAD v4 |
15 | g.80152562A= | CA2190326746 | FAH | c.-30+17A= (n.-30+17A=)
| |
15 | g.80152562A>C | CA619266137 | FAH | c.-30+17A>C (n.-30+17A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152562A>G | CA716102379 | FAH | c.-30+17A>G (n.-30+17A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152562A>T | CA2629872476 | FAH | c.-30+17A>T (n.-30+17A>T)
| gnomAD v4 |
15 | g.80152562_80152563delinsAG | CA2190326748 | FAH | c.-30+17_-30+18delinsAG (n.-30+17_-30+18delinsAG)
| |
15 | g.80152562_80152780delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC | CA2190326750 | FAH | c.-30+17_-30+235delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC (n.-30+17_-30+235delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC)
| |
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=)
| |