| Variant | dbSNP id | Gene | Type | cDNA change | AA change | Exon/intron | Classification | # patients | # controls |
chr18:21111539 C>T | rs375254375 | NPC1 | 3_prime_UTR_variant | c.*627G>A | | 25 | 3 (unknown significance) | 0 | 1 | chr18:21111649 T>G | rs144687654 | NPC1 | 3_prime_UTR_variant | c.*517A>C | | 25 | 3 (unknown significance) | 0 | 4 | chr18:21111650 G>A | rs369574306 | NPC1 | 3_prime_UTR_variant | c.*516C>T | | 25 | 3 (unknown significance) | 0 | 1 | chr18:21111675 TTGC>T | rs753774377 | NPC1 | 3_prime_UTR_variant | c.*488_*490delGCA | | 25 | n/a | 0 | 0 | chr18:21111696 ATG>A | rs778754906 | NPC1 | 3_prime_UTR_variant | c.*468_*469delCA | | 25 | n/a | 0 | 0 | chr18:21112120 C>CG | rs771802872 | NPC1 | 3_prime_UTR_variant | c.*45dupC | | 25 | 3 (unknown significance) | 0 | 2 | chr18:21112120 C>T | rs376559201 | NPC1 | 3_prime_UTR_variant | c.*46G>A | | 25 | 3 (unknown significance) | 0 | 2 | chr18:21112133 GAC>G | rs543952304 | NPC1 | 3_prime_UTR_variant | c.*31_*32delGT | | 25 | n/a | 0 | 0 | chr18:21112182 C>T | rs151305963 | NPC1 | missense_variant | c.3821G>A | p.Arg1274Gln | 25 | 2 (likely benign) | 0 | 4 | chr18:21112185 T>C | rs374032318 | NPC1 | missense_variant | c.3818A>G | p.Glu1273Gly | 25 | 2 (likely benign) | 0 | 1 | chr18:21112189 G>A | rs200264267 | NPC1 | missense_variant | c.3814C>T | p.Arg1272Cys | 25 | 3 (unknown significance) | 0 | 1 | chr18:21112192 C>G | rs140527006 | NPC1 | missense_variant | c.3811G>C | p.Glu1271Gln | 25 | 2 (likely benign) | 0 | 1 | chr18:21112204 A>C | rs373435628 | NPC1 | missense_variant | c.3799T>G | p.Tyr1267Asp | 25 | 2 (likely benign) | 0 | 1 | chr18:21112206 C>T | rs1805084 | NPC1 | missense_variant | c.3797G>A | p.Arg1266Gln | 25 | 1 (benign) | 1 | 1275 | chr18:21112207 G>A | rs376164368 | NPC1 | stop_gained | c.3796C>T | p.Arg1266* | 25 | 5 (pathogenic) | 0 | 1 | chr18:21112252 T>TGA | rs760529810 | NPC1 | splice_region_variant&intron_variant | c.3755-6_3755-5dupTC | | 24 | 2 (likely benign) | 0 | 4 | chr18:21112252 TGAGA>T | rs776191700 | NPC1 | splice_region_variant&intron_variant | c.3755-8_3755-5delTCTC | | 24 | n/a | 0 | 0 | chr18:21112268 TTTC>T | rs771573180 | NPC1 | intron_variant | c.3755-23_3755-21delGAA | | 24 | n/a | 0 | 0 | chr18:21112284 G>T | rs370854351 | NPC1 | intron_variant | c.3755-36C>A | | 24 | 3 (unknown significance) | 0 | 1 | chr18:21112300 T>C | rs181852638 | NPC1 | intron_variant | c.3755-52A>G | | 24 | 1 (benign) | 0 | 6 | chr18:21112323 C>T | rs568058790 | NPC1 | intron_variant | c.3755-75G>A | | 24 | 3 (unknown significance) | 1 | 0 | chr18:21112337 T>C | | NPC1 | intron_variant | c.3755-89A>G | | 24 | 3 (unknown significance) | 1 | 0 | chr18:21112371 G>A | | NPC1 | intron_variant | c.3755-123C>T | | 24 | 3 (unknown significance) | 1 | 0 | chr18:21113244 A>T | | NPC1 | intron_variant | c.3754+75T>A | | 24 | 3 (unknown significance) | 1 | 0 | chr18:21113318 C>G | | NPC1 | splice_donor_variant&intron_variant | c.3754+1G>C | | 24 | 3 (unknown significance) | 1 | 0 | chr18:21113319 C>G | | NPC1 | missense_variant&splice_region_variant | c.3754G>C | p.Gly1252Arg | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113319 C>T | | NPC1 | missense_variant&splice_region_variant | c.3754G>A | p.Gly1252Arg | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113325 AACTG>A | | NPC1 | frameshift_variant | c.3744_3747delCAGT | p.Ser1249fs | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113327 CTGAG>C | rs774943545 | NPC1 | frameshift_variant | c.3742_3745delCTCA | p.Leu1248fs | 24 | 3 (unknown significance) | 0 | 2 | chr18:21113328 T>C | | NPC1 | missense_variant | c.3745A>G | p.Ser1249Gly | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113335 GAC>G | rs767959682 | NPC1 | frameshift_variant | c.3736_3737delGT | p.Val1246fs | 24 | n/a | 0 | 0 | chr18:21113337 CAG>C | | NPC1 | frameshift_variant | c.3734_3735delCT | p.Pro1245fs | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113341 G>A | rs1621962 | NPC1 | synonymous_variant | c.3732C>T | p.Leu1244Leu | 24 | 2 (likely benign) | 1 | 3 | chr18:21113342 A>G | | NPC1 | missense_variant | c.3731T>C | p.Leu1244Pro | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113355 C>T | rs745892286 | NPC1 | missense_variant | c.3718G>A | p.Gly1240Arg | 24 | 5 (pathogenic) | 2 | 0 | chr18:21113356 G>A | rs34624018 | NPC1 | synonymous_variant | c.3717C>T | p.His1239His | 24 | 2 (likely benign) | 0 | 2 | chr18:21113366 C>T | rs761653115 | NPC1 | missense_variant | c.3707G>A | p.Gly1236Glu | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113384 A>G | rs374150662 | NPC1 | missense_variant | c.3689T>C | p.Leu1230Ser | 24 | 3 (unknown significance) | 0 | 1 | chr18:21113401 G>C | | NPC1 | missense_variant | c.3672C>G | p.Phe1224Leu | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113406 T>C | rs368658600 | NPC1 | missense_variant | c.3667A>G | p.Ile1223Val | 24 | 2 (likely benign) | 0 | 1 | chr18:21113410 GA>G | rs786200878 | NPC1 | frameshift_variant | c.3662delT | p.Phe1221fs | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113414 A>G | | NPC1 | missense_variant | c.3659T>C | p.Ile1220Thr | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113426 G>A | | NPC1 | missense_variant | c.3647C>T | p.Ala1216Val | 24 | 3 (unknown significance) | 1 | 0 | chr18:21113434 C>G | rs120074131 | NPC1 | missense_variant | c.3639G>C | p.Leu1213Phe | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113436 A>C | rs766178353 | NPC1 | missense_variant | c.3637T>G | p.Leu1213Val | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113439 C>A | rs753419933 | NPC1 | missense_variant | c.3634G>T | p.Val1212Leu | 24 | 4 (likely pathogenic) | 2 | 0 | chr18:21113447 C>T | | NPC1 | missense_variant | c.3626G>A | p.Gly1209Glu | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113454 A>G | rs140827681 | NPC1 | missense_variant | c.3619T>C | p.Phe1207Leu | 24 | 3 (unknown significance) | 0 | 1 | chr18:21113454 AT>A | | NPC1 | frameshift_variant | c.3618delA | p.Lys1206fs | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113458 TGTAA>T | rs786200879 | NPC1 | frameshift_variant | c.3611_3614delTTAC | p.Leu1204fs | 24 | 3 (unknown significance) | 0 | 1 | chr18:21113459 G>C | | NPC1 | missense_variant | c.3614C>G | p.Thr1205Arg | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113459 G>T | rs758902805 | NPC1 | missense_variant | c.3614C>A | p.Thr1205Lys | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113460 TA>C | | NPC1 | frameshift_variant&missense_variant | c.3612_3613delTAinsG | p.Thr1205fs | 24 | 4 (likely pathogenic) | 1 | 0 | chr18:21113475 T>C | rs35248744 | NPC1 | missense_variant | c.3598A>G | p.Ser1200Gly | 24 | 3 (unknown significance) | 1 | 61 | chr18:21113485 AAAG>A | rs764142835 | NPC1 | splice_region_variant&intron_variant | c.3592-7_3592-5delCTT | | 23 | n/a | 0 | 0 | chr18:21113488 G>C | | NPC1 | splice_region_variant&intron_variant | c.3592-7C>G | | 23 | 3 (unknown significance) | 1 | 0 | chr18:21113517 A>G | rs372196014 | NPC1 | intron_variant | c.3592-36T>C | | 23 | 3 (unknown significance) | 0 | 1 | chr18:21113523 C>G | rs149111199 | NPC1 | intron_variant | c.3592-42G>C | | 23 | 1 (benign) | 0 | 34 | chr18:21114375 G>A | rs62093275 | NPC1 | intron_variant | c.3591+35C>T | | 23 | 1 (benign) | 0 | 28 | chr18:21114392 C>CCT | rs757225912 | NPC1 | splice_region_variant&intron_variant | c.3591+16_3591+17dupAG | | 23 | 3 (unknown significance) | 0 | 1 | chr18:21114405 C>T | | NPC1 | splice_region_variant&intron_variant | c.3591+5G>A | | 23 | 4 (likely pathogenic) | 1 | 0 | chr18:21114405 CT>C | rs794727371 | NPC1 | splice_region_variant&intron_variant | c.3591+4delA | | 23 | 3 (unknown significance) | 1 | 0 | chr18:21114407 C>G | | NPC1 | splice_region_variant&intron_variant | c.3591+3G>C | | 23 | 3 (unknown significance) | 1 | 0 | chr18:21114409 C>T | rs786200877 | NPC1 | splice_donor_variant&intron_variant | c.3591+1G>A | | 23 | 3 (unknown significance) | 1 | 0 | chr18:21114410 G>A | rs191776973 | NPC1 | splice_region_variant&synonymous_variant | c.3591C>T | p.Ser1197Ser | 23 | 2 (likely benign) | 0 | 2 | chr18:21114417 C>A | | NPC1 | missense_variant | c.3584G>T | p.Gly1195Val | 23 | 3 (unknown significance) | 1 | 0 | chr18:21114424 G>A | rs375309094 | NPC1 | missense_variant | c.3577C>T | p.His1193Tyr | 23 | 2 (likely benign) | 0 | 1 | chr18:21114427 C>CAAGT | rs750323164 | NPC1 | frameshift_variant | c.3570_3573dupACTT | p.Ala1192fs | 23 | 4 (likely pathogenic) | 1 | 0 | chr18:21114430 G>A | | NPC1 | missense_variant | c.3571C>T | p.Leu1191Phe | 23 | 5 (pathogenic) | 2 | 0 | chr18:21114435 T>C | rs369098773 | NPC1 | missense_variant | c.3566A>G | p.Glu1189Gly | 23 | 4 (likely pathogenic) | 1 | 1 | chr18:21114438 TC>T | rs758231839 | NPC1 | frameshift_variant | c.3562delG | p.Glu1188fs | 23 | 4 (likely pathogenic) | 1 | 0 | chr18:21114439 C>A | rs776701050 | NPC1 | stop_gained | c.3562G>T | p.Glu1188* | 23 | 5 (pathogenic) | 1 | 0 | chr18:21114440 C>A | rs55724504 | NPC1 | synonymous_variant | c.3561G>T | p.Ala1187Ala | 23 | 1 (benign) | 1 | 34 | chr18:21114441 G>A | rs113371321 | NPC1 | missense_variant | c.3560C>T | p.Ala1187Val | 23 | 4 (likely pathogenic) | 1 | 0 | chr18:21114441 G>C | | NPC1 | missense_variant | c.3560C>G | p.Ala1187Gly | 23 | 4 (likely pathogenic) | 1 | 0 | chr18:21114443 G>A | rs141659629 | NPC1 | synonymous_variant | c.3558C>T | p.Arg1186Arg | 23 | 2 (likely benign) | 0 | 2 | chr18:21114443 GCGCT>G | | NPC1 | frameshift_variant | c.3554_3557delAGCG | p.Glu1185fs | 23 | 4 (likely pathogenic) | 1 | 0 | chr18:21114444 C>T | rs200444084 | NPC1 | missense_variant | c.3557G>A | p.Arg1186His | 23 | 4 (likely pathogenic) | 1 | 1 | chr18:21114445 G>A | rs145297180 | NPC1 | missense_variant | c.3556C>T | p.Arg1186Cys | 23 | 3 (unknown significance) | 0 | 2 | chr18:21114445 G>C | | NPC1 | missense_variant | c.3556C>G | p.Arg1186Gly | 23 | 4 (likely pathogenic) | 1 | 0 | chr18:21114453 C>T | rs148035987 | NPC1 | missense_variant | c.3548G>A | p.Arg1183His | 23 | 3 (unknown significance) | 0 | 7 | chr18:21114466 T>C | rs61731969 | NPC1 | missense_variant | c.3535A>G | p.Met1179Val | 23 | 1 (benign) | 0 | 54 | chr18:21114473 C>T | rs150602021 | NPC1 | synonymous_variant | c.3528G>A | p.Thr1176Thr | 23 | 2 (likely benign) | 0 | 2 | chr18:21114480 G>A | rs780175800 | NPC1 | missense_variant | c.3521C>T | p.Ala1174Val | 23 | 3 (unknown significance) | 1 | 0 | chr18:21114495 C>A | rs139612110 | NPC1 | missense_variant | c.3506G>T | p.Ser1169Ile | 23 | 3 (unknown significance) | 0 | 2 | chr18:21114498 C>T | | NPC1 | missense_variant | c.3503G>A | p.Cys1168Tyr | 23 | 5 (pathogenic) | 4 | 0 | chr18:21114502 A>C | | NPC1 | missense_variant | c.3499T>G | p.Phe1167Val | 23 | 4 (likely pathogenic) | 1 | 0 | chr18:21114502 A>G | | NPC1 | missense_variant | c.3499T>C | p.Phe1167Leu | 23 | 5 (pathogenic) | 2 | 0 | chr18:21114508 C>T | rs748862167 | NPC1 | missense_variant | c.3493G>A | p.Val1165Met | 23 | 4 (likely pathogenic) | 1 | 0 | chr18:21114516 C>A | | NPC1 | missense_variant | c.3485G>T | p.Gly1162Val | 23 | 4 (likely pathogenic) | 1 | 0 | chr18:21114516 C>G | | NPC1 | missense_variant | c.3485G>C | p.Gly1162Ala | 23 | 5 (pathogenic) | 4 | 0 | chr18:21114551 GCT>G | rs779803787 | NPC1 | intron_variant | c.3478-30_3478-29delAG | | 22 | n/a | 0 | 0 | chr18:21115402 A>G | rs370106510 | NPC1 | intron_variant | c.3477+31T>C | | 22 | 2 (likely benign) | 0 | 3 | chr18:21115410 A>G | rs370968750 | NPC1 | intron_variant | c.3477+23T>C | | 22 | 3 (unknown significance) | 0 | 1 | chr18:21115411 CTG>C | rs754658312 | NPC1 | splice_region_variant&intron_variant | c.3477+20_3477+21delCA | | 22 | n/a | 0 | 0 | chr18:21115412 T>A | rs373365816 | NPC1 | intron_variant | c.3477+21A>T | | 22 | 3 (unknown significance) | 0 | 1 | chr18:21115414 A>G | rs375942184 | NPC1 | splice_region_variant&intron_variant | c.3477+19T>C | | 22 | 2 (likely benign) | 0 | 4 | chr18:21115418 T>C | rs369049242 | NPC1 | splice_region_variant&intron_variant | c.3477+15A>G | | 22 | 3 (unknown significance) | 0 | 1 | chr18:21115419 G>A | rs56043719 | NPC1 | splice_region_variant&intron_variant | c.3477+14C>T | | 22 | 2 (likely benign) | 0 | 3 | chr18:21115429 T>C | rs114073738 | NPC1 | splice_region_variant&intron_variant | c.3477+4A>G | | 22 | 1 (benign) | 0 | 28 | chr18:21115432 C>T | | NPC1 | splice_donor_variant&intron_variant | c.3477+1G>A | | 22 | 3 (unknown significance) | 1 | 0 | chr18:21115438 C>T | | NPC1 | missense_variant | c.3472G>A | p.Val1158Met | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115440 A>G | | NPC1 | missense_variant | c.3470T>C | p.Leu1157Pro | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115443 T>A | | NPC1 | missense_variant | c.3467A>T | p.Asn1156Ile | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115443 T>C | rs28942105 | NPC1 | missense_variant | c.3467A>G | p.Asn1156Ser | 22 | 5 (pathogenic) | 7 | 0 | chr18:21115449 A>T | | NPC1 | stop_gained | c.3461T>A | p.Leu1154* | 22 | 5 (pathogenic) | 1 | 0 | chr18:21115459 C>T | rs765729815 | NPC1 | missense_variant | c.3451G>A | p.Ala1151Thr | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115460 G>A | rs34715591 | NPC1 | synonymous_variant | c.3450C>T | p.Asn1150Asn | 22 | 1 (benign) | 0 | 63 | chr18:21115460 G>T | | NPC1 | missense_variant | c.3450C>A | p.Asn1150Lys | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115463 C>T | rs147249773 | NPC1 | synonymous_variant | c.3447G>A | p.Leu1149Leu | 22 | 2 (likely benign) | 0 | 1 | chr18:21115469 G>A | rs116436235 | NPC1 | synonymous_variant | c.3441C>T | p.Ile1147Ile | 22 | 1 (benign) | 0 | 58 | chr18:21115477 A>G | | NPC1 | missense_variant | c.3433T>C | p.Trp1145Arg | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115478 G>C | rs191526202 | NPC1 | synonymous_variant | c.3432C>G | p.Leu1144Leu | 22 | 2 (likely benign) | 0 | 1 | chr18:21115482 C>T | | NPC1 | stop_gained | c.3428G>A | p.Trp1143* | 22 | 5 (pathogenic) | 1 | 0 | chr18:21115485 A>G | rs778878523 | NPC1 | missense_variant | c.3425T>C | p.Met1142Thr | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115488 A>C | rs144725473 | NPC1 | missense_variant | c.3422T>G | p.Val1141Gly | 22 | 3 (unknown significance) | 0 | 1 | chr18:21115491 C>A | | NPC1 | missense_variant | c.3419G>T | p.Gly1140Val | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115500 T>A | | NPC1 | missense_variant | c.3410A>T | p.Asn1137Ile | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115514 G>A | rs145740512 | NPC1 | synonymous_variant | c.3396C>T | p.Ala1132Ala | 22 | 2 (likely benign) | 0 | 1 | chr18:21115546 A>G | rs148571882 | NPC1 | missense_variant | c.3364T>C | p.Trp1122Arg | 22 | 2 (likely benign) | 0 | 1 | chr18:21115561 GGA>G | | NPC1 | frameshift_variant | c.3347_3348delTC | p.Leu1116fs | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115567 C>A | rs34226296 | NPC1 | missense_variant | c.3343G>T | p.Val1115Phe | 22 | 1 (benign) | 0 | 34 | chr18:21115579 G>A | rs151125564 | NPC1 | synonymous_variant | c.3331C>T | p.Leu1111Leu | 22 | 1 (benign) | 0 | 30 | chr18:21115586 C>T | rs373245725 | NPC1 | synonymous_variant | c.3324G>A | p.Ala1108Ala | 22 | 2 (likely benign) | 0 | 1 | chr18:21115587 G>A | rs765146280 | NPC1 | missense_variant | c.3323C>T | p.Ala1108Val | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115589 G>T | rs376210355 | NPC1 | synonymous_variant | c.3321C>A | p.Gly1107Gly | 22 | 2 (likely benign) | 0 | 1 | chr18:21115591 C>G | | NPC1 | missense_variant | c.3319G>C | p.Gly1107Arg | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115592 C>T | | NPC1 | synonymous_variant | c.3318G>A | p.Leu1106Leu | 22 | 2 (likely benign) | 1 | 0 | chr18:21115593 A>G | | NPC1 | missense_variant | c.3317T>C | p.Leu1106Pro | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115606 G>A | | NPC1 | missense_variant | c.3304C>T | p.Leu1102Phe | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115621 C>T | rs758829443 | NPC1 | missense_variant | c.3289G>A | p.Asp1097Asn | 22 | 3 (unknown significance) | 1 | 0 | chr18:21115622 G>A | rs371093388 | NPC1 | synonymous_variant | c.3288C>T | p.Asp1096Asp | 22 | 2 (likely benign) | 0 | 1 | chr18:21115629 A>G | | NPC1 | missense_variant | c.3281T>C | p.Ile1094Thr | 22 | 4 (likely pathogenic) | 4 | 4 | chr18:21115645 C>A | | NPC1 | stop_gained | c.3265G>T | p.Glu1089* | 22 | 5 (pathogenic) | 1 | 0 | chr18:21115645 C>T | rs374526072 | NPC1 | missense_variant | c.3265G>A | p.Glu1089Lys | 22 | 4 (likely pathogenic) | 1 | 1 | chr18:21115647 T>C | rs28942106 | NPC1 | missense_variant | c.3263A>G | p.Tyr1088Cys | 22 | 5 (pathogenic) | 2 | 0 | chr18:21115651 A>G | rs746715353 | NPC1 | missense_variant | c.3259T>C | p.Phe1087Leu | 22 | 4 (likely pathogenic) | 1 | 0 | chr18:21115658 A>G | | NPC1 | synonymous_variant | c.3252T>C | p.Phe1084Phe | 22 | 2 (likely benign) | 1 | 0 | chr18:21115666 T>C | | NPC1 | splice_acceptor_variant&intron_variant | c.3246-2A>G | | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21115672 G>A | rs145227129 | NPC1 | splice_region_variant&intron_variant | c.3246-8C>T | | 21 | 2 (likely benign) | 0 | 4 | chr18:21115684 C>T | rs6507717 | NPC1 | splice_region_variant&intron_variant | c.3246-20G>A | | 21 | 1 (benign) | 0 | 155 | chr18:21115700 TCTCA>T | rs780645716 | NPC1 | intron_variant | c.3246-40_3246-37delTGAG | | 21 | n/a | 0 | 0 | chr18:21115709 C>T | rs368246991 | NPC1 | intron_variant | c.3246-45G>A | | 21 | 2 (likely benign) | 1 | 4 | chr18:21115710 G>A | rs117851153 | NPC1 | intron_variant | c.3246-46C>T | | 21 | 1 (benign) | 0 | 16 | chr18:21115944 C>T | | NPC1 | intron_variant | c.3246-280G>A | | 21 | 3 (unknown significance) | 1 | 0 | chr18:21115969 CA>C | | NPC1 | intron_variant | c.3246-306delT | | 21 | 3 (unknown significance) | 1 | 0 | chr18:21116601 G>C | rs374203451 | NPC1 | intron_variant | c.3245+36C>G | | 21 | 3 (unknown significance) | 0 | 1 | chr18:21116627 C>T | rs375928251 | NPC1 | splice_region_variant&intron_variant | c.3245+10G>A | | 21 | 3 (unknown significance) | 0 | 1 | chr18:21116628 A>G | rs371124772 | NPC1 | splice_region_variant&intron_variant | c.3245+9T>C | | 21 | 3 (unknown significance) | 0 | 1 | chr18:21116635 A>AC | | NPC1 | splice_donor_variant&intron_variant | c.3245+1dupG | | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21116646 A>G | | NPC1 | missense_variant | c.3236T>C | p.Phe1079Ser | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21116647 A>G | | NPC1 | missense_variant | c.3235T>C | p.Phe1079Leu | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21116652 C>T | rs534280005 | NPC1 | missense_variant | c.3230G>A | p.Arg1077Gln | 21 | 3 (unknown significance) | 1 | 0 | chr18:21116665 C>T | rs141440861 | NPC1 | missense_variant | c.3217G>A | p.Gly1073Ser | 21 | 1 (benign) | 0 | 18 | chr18:21116684 G>A | rs145145840 | NPC1 | synonymous_variant | c.3198C>T | p.Thr1066Thr | 21 | 1 (benign) | 0 | 14 | chr18:21116685 G>T | rs772622214 | NPC1 | missense_variant | c.3197C>A | p.Thr1066Asn | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21116688 A>C | | NPC1 | missense_variant | c.3194T>G | p.Val1065Gly | 21 | 2 (likely benign) | 1 | 0 | chr18:21116697 G>A | | NPC1 | missense_variant | c.3185C>T | p.Ala1062Val | 21 | 3 (unknown significance) | 1 | 0 | chr18:21116698 C>T | rs369960141 | NPC1 | missense_variant | c.3184G>A | p.Ala1062Thr | 21 | 3 (unknown significance) | 0 | 1 | chr18:21116700 A>G | rs80358259 | NPC1 | missense_variant | c.3182T>C | p.Ile1061Thr | 21 | 5 (pathogenic) | 67 | 5 | chr18:21116706 C>T | rs771000314 | NPC1 | missense_variant | c.3176G>A | p.Arg1059Gln | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21116707 G>A | rs786204455 | NPC1 | stop_gained | c.3175C>T | p.Arg1059* | 21 | 5 (pathogenic) | 1 | 0 | chr18:21116722 C>T | rs80358258 | NPC1 | missense_variant | c.3160G>A | p.Ala1054Thr | 21 | 5 (pathogenic) | 3 | 0 | chr18:21116723 G>A | rs201460899 | NPC1 | synonymous_variant | c.3159C>T | p.Asp1053Asp | 21 | 2 (likely benign) | 0 | 1 | chr18:21116727 A>C | | NPC1 | missense_variant | c.3155T>G | p.Ile1052Ser | 21 | 3 (unknown significance) | 1 | 0 | chr18:21116736 G>A | | NPC1 | missense_variant | c.3146C>T | p.Ala1049Val | 21 | 3 (unknown significance) | 1 | 0 | chr18:21116748 A>G | | NPC1 | missense_variant | c.3134T>C | p.Leu1045Pro | 21 | n/a | 1 | 0 | chr18:21116750 C>T | rs138054593 | NPC1 | synonymous_variant | c.3132G>A | p.Val1044Val | 21 | 2 (likely benign) | 0 | 1 | chr18:21116775 G>A | rs28942104 | NPC1 | missense_variant | c.3107C>T | p.Thr1036Met | 21 | 5 (pathogenic) | 2 | 0 | chr18:21116775 G>T | | NPC1 | missense_variant | c.3107C>A | p.Thr1036Lys | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21116776 T>C | | NPC1 | missense_variant | c.3106A>G | p.Thr1036Ala | 21 | n/a | 1 | 0 | chr18:21116778 G>A | rs28942107 | NPC1 | missense_variant | c.3104C>T | p.Ala1035Val | 21 | 5 (pathogenic) | 4 | 0 | chr18:21116782 C>T | | NPC1 | missense_variant | c.3100G>A | p.Gly1034Arg | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21116784 ACC>A | | NPC1 | frameshift_variant | c.3096_3097delGG | p.Arg1032fs | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21116814 A>C | | NPC1 | missense_variant | c.3068T>G | p.Val1023Gly | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21116823 C>G | rs374719153 | NPC1 | missense_variant | c.3059G>C | p.Ser1020Thr | 21 | 2 (likely benign) | 0 | 1 | chr18:21116826 T>C | rs781261962 | NPC1 | missense_variant | c.3056A>G | p.Tyr1019Cys | 21 | 5 (pathogenic) | 4 | 0 | chr18:21116830 C>T | rs146666146 | NPC1 | missense_variant | c.3052G>A | p.Ala1018Thr | 21 | 3 (unknown significance) | 0 | 2 | chr18:21116834 A>G | rs369362891 | NPC1 | synonymous_variant | c.3048T>C | p.His1016His | 21 | 2 (likely benign) | 0 | 1 | chr18:21116835 T>A | | NPC1 | missense_variant | c.3047A>T | p.His1016Leu | 21 | 4 (likely pathogenic) | 2 | 0 | chr18:21116835 T>C | rs140211089 | NPC1 | missense_variant | c.3047A>G | p.His1016Arg | 21 | 3 (unknown significance) | 1 | 1 | chr18:21116838 C>A | rs761773567 | NPC1 | missense_variant&splice_region_variant | c.3044G>T | p.Gly1015Val | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21116838 C>G | | NPC1 | missense_variant&splice_region_variant | c.3044G>C | p.Gly1015Ala | 21 | 4 (likely pathogenic) | 1 | 0 | chr18:21116841 CT>C | rs797044431 | NPC1 | splice_acceptor_variant&intron_variant | c.3042-2delA | | 20 | 3 (unknown significance) | 1 | 0 | chr18:21116864 AAG>A | rs370682520 | NPC1 | intron_variant | c.3042-26_3042-25delCT | | 20 | n/a | 0 | 0 | chr18:21118455 T>A | rs373559428 | NPC1 | intron_variant | c.3041+51A>T | | 20 | 3 (unknown significance) | 0 | 1 | chr18:21118512 C>T | | NPC1 | missense_variant | c.3035G>A | p.Gly1012Asp | 20 | 4 (likely pathogenic) | 2 | 1 | chr18:21118519 T>G | rs191876836 | NPC1 | missense_variant | c.3028A>C | p.Lys1010Gln | 20 | 2 (likely benign) | 0 | 1 | chr18:21118527 G>A | rs764789542 | NPC1 | missense_variant | c.3020C>T | p.Pro1007Leu | 20 | 5 (pathogenic) | 3 | 2 | chr18:21118527 G>C | | NPC1 | missense_variant | c.3020C>G | p.Pro1007Arg | 20 | 3 (unknown significance) | 1 | 0 | chr18:21118528 G>C | rs80358257 | NPC1 | missense_variant | c.3019C>G | p.Pro1007Ala | 20 | 5 (pathogenic) | 16 | 2 | chr18:21118535 C>T | rs182413311 | NPC1 | synonymous_variant | c.3012G>A | p.Ser1004Ser | 20 | 2 (likely benign) | 0 | 1 | chr18:21118536 G>A | rs150334966 | NPC1 | missense_variant | c.3011C>T | p.Ser1004Leu | 20 | 2 (likely benign) | 1 | 8 | chr18:21118537 A>G | | NPC1 | missense_variant | c.3010T>C | p.Ser1004Pro | 20 | 4 (likely pathogenic) | 1 | 0 | chr18:21118545 A>G | | NPC1 | missense_variant | c.3002T>C | p.Met1001Thr | 20 | 3 (unknown significance) | 1 | 0 | chr18:21118546 T>C | | NPC1 | missense_variant | c.3001A>G | p.Met1001Val | 20 | 3 (unknown significance) | 1 | 0 | chr18:21118560 A>C | | NPC1 | missense_variant | c.2987T>G | p.Met996Arg | 20 | 3 (unknown significance) | 1 | 0 | chr18:21118564 A>G | | NPC1 | missense_variant | c.2983T>C | p.Phe995Leu | 20 | 4 (likely pathogenic) | 1 | 0 | chr18:21118568 TC>T | rs775915490 | NPC1 | frameshift_variant | c.2978delG | p.Gly993fs | 20 | 4 (likely pathogenic) | 1 | 0 | chr18:21118568 TCCCCCC>T | | NPC1 | disruptive_inframe_deletion | c.2973_2978delGGGGGG | p.Gly992_Gly993del | 20 | 4 (likely pathogenic) | 1 | 0 | chr18:21118572 C>G | rs757534240 | NPC1 | missense_variant | c.2975G>C | p.Gly992Ala | 20 | 2 (likely benign) | 1 | 0 | chr18:21118573 C>A | rs80358254 | NPC1 | missense_variant | c.2974G>T | p.Gly992Trp | 20 | 5 (pathogenic) | 12 | 1 | chr18:21118573 C>G | rs80358254 | NPC1 | missense_variant | c.2974G>C | p.Gly992Arg | 20 | 4 (likely pathogenic) | 2 | 0 | chr18:21118573 C>T | rs80358254 | NPC1 | missense_variant | c.2974G>A | p.Gly992Arg | 20 | 3 (unknown significance) | 1 | 0 | chr18:21118573 CCT>C | rs756815030 | NPC1 | frameshift_variant | c.2972_2973delAG | p.Gln991fs | 20 | 4 (likely pathogenic) | 1 | 0 | chr18:21118574 CT>C | | NPC1 | frameshift_variant | c.2972delA | p.Gln991fs | 20 | 4 (likely pathogenic) | 1 | 0 | chr18:21118591 C>T | | NPC1 | missense_variant | c.2956G>A | p.Gly986Ser | 20 | 3 (unknown significance) | 1 | 0 | chr18:21118610 G>A | rs199900435 | NPC1 | synonymous_variant | c.2937C>T | p.Cys979Cys | 20 | 2 (likely benign) | 0 | 1 | chr18:21118615 G>A | rs28942108 | NPC1 | missense_variant | c.2932C>T | p.Arg978Cys | 20 | 4 (likely pathogenic) | 1 | 0 | chr18:21118619 G>A | rs370766410 | NPC1 | synonymous_variant | c.2928C>T | p.Cys976Cys | 20 | 2 (likely benign) | 0 | 1 | chr18:21118621 A>G | | NPC1 | missense_variant | c.2926T>C | p.Cys976Arg | 20 | 4 (likely pathogenic) | 1 | 0 | chr18:21118634 C>T | rs367911777 | NPC1 | splice_region_variant&synonymous_variant | c.2913G>A | p.Val971Val | 20 | 2 (likely benign) | 0 | 1 | chr18:21118635 A>C | | NPC1 | missense_variant&splice_region_variant | c.2912T>G | p.Val971Gly | 20 | 3 (unknown significance) | 1 | 0 | chr18:21118638 G>C | rs483352892 | NPC1 | splice_region_variant&intron_variant | c.2912-3C>G | | 19 | 3 (unknown significance) | 1 | 0 | chr18:21118640 C>T | rs369985476 | NPC1 | splice_region_variant&intron_variant | c.2912-5G>A | | 19 | 3 (unknown significance) | 0 | 1 | chr18:21118663 TAGA>T | rs776667273 | NPC1 | intron_variant | c.2912-31_2912-29delTCT | | 19 | n/a | 0 | 0 | chr18:21118673 G>C | rs374411154 | NPC1 | intron_variant | c.2912-38C>G | | 19 | 3 (unknown significance) | 0 | 1 | chr18:21119291 A>G | rs6507720 | NPC1 | intron_variant | c.2911+28T>C | | 19 | 1 (benign) | 1 | 7131 | chr18:21119309 G>A | rs370382673 | NPC1 | splice_region_variant&intron_variant | c.2911+10C>T | | 19 | 3 (unknown significance) | 0 | 1 | chr18:21119315 G>A | rs186588103 | NPC1 | splice_region_variant&intron_variant | c.2911+4C>T | | 19 | 2 (likely benign) | 0 | 3 | chr18:21119319 C>G | | NPC1 | missense_variant&splice_region_variant | c.2911G>C | p.Val971Leu | 19 | 2 (likely benign) | 1 | 0 | chr18:21119321 G>GAA | rs761910746 | NPC1 | frameshift_variant | c.2907_2908dupTT | p.Ser970fs | 19 | 3 (unknown significance) | 0 | 1 | chr18:21119327 T>C | rs773767253 | NPC1 | missense_variant | c.2903A>G | p.Asn968Ser | 19 | 3 (unknown significance) | 1 | 0 | chr18:21119337 G>A | rs786204586 | NPC1 | stop_gained | c.2893C>T | p.Gln965* | 19 | 5 (pathogenic) | 1 | 0 | chr18:21119348 T>C | rs34084984 | NPC1 | missense_variant | c.2882A>G | p.Asn961Ser | 19 | 1 (benign) | 1 | 56 | chr18:21119354 A>T | | NPC1 | missense_variant | c.2876T>A | p.Val959Glu | 19 | 3 (unknown significance) | 1 | 0 | chr18:21119357 C>A | | NPC1 | missense_variant | c.2873G>T | p.Arg958Leu | 19 | 4 (likely pathogenic) | 1 | 0 | chr18:21119357 C>T | rs120074132 | NPC1 | missense_variant | c.2873G>A | p.Arg958Gln | 19 | 5 (pathogenic) | 3 | 1 | chr18:21119358 G>A | rs759826138 | NPC1 | stop_gained | c.2872C>T | p.Arg958* | 19 | 5 (pathogenic) | 1 | 0 | chr18:21119363 C>T | | NPC1 | missense_variant | c.2867G>A | p.Cys956Tyr | 19 | 4 (likely pathogenic) | 1 | 0 | chr18:21119368 C>T | rs373517774 | NPC1 | synonymous_variant | c.2862G>A | p.Ser954Ser | 19 | 2 (likely benign) | 0 | 1 | chr18:21119369 G>A | rs543206298 | NPC1 | missense_variant | c.2861C>T | p.Ser954Leu | 19 | 4 (likely pathogenic) | 4 | 0 | chr18:21119382 C>T | rs120074135 | NPC1 | missense_variant | c.2848G>A | p.Val950Met | 19 | 3 (unknown significance) | 1 | 0 | chr18:21119388 C>A | | NPC1 | missense_variant | c.2842G>T | p.Asp948Tyr | 19 | 4 (likely pathogenic) | 1 | 0 | chr18:21119388 C>G | | NPC1 | missense_variant | c.2842G>C | p.Asp948His | 19 | 4 (likely pathogenic) | 1 | 0 | chr18:21119388 C>T | | NPC1 | missense_variant | c.2842G>A | p.Asp948Asn | 19 | 5 (pathogenic) | 3 | 0 | chr18:21119397 C>T | | NPC1 | missense_variant | c.2833G>A | p.Asp945Asn | 19 | 4 (likely pathogenic) | 1 | 0 | chr18:21119400 C>T | rs748837410 | NPC1 | missense_variant | c.2830G>A | p.Asp944Asn | 19 | 4 (likely pathogenic) | 1 | 0 | chr18:21119401 G>C | | NPC1 | missense_variant | c.2829C>G | p.Ile943Met | 19 | 4 (likely pathogenic) | 2 | 0 | chr18:21119411 G>A | rs143124972 | NPC1 | missense_variant | c.2819C>T | p.Ser940Leu | 19 | 5 (pathogenic) | 4 | 1 | chr18:21119411 G>T | | NPC1 | stop_gained | c.2819C>A | p.Ser940* | 19 | 5 (pathogenic) | 2 | 0 | chr18:21119429 C>T | rs786204714 | NPC1 | missense_variant | c.2801G>A | p.Arg934Gln | 19 | 4 (likely pathogenic) | 5 | 0 | chr18:21119430 G>A | rs370721218 | NPC1 | stop_gained | c.2800C>T | p.Arg934* | 19 | 5 (pathogenic) | 1 | 1 | chr18:21119438 G>A | rs374406578 | NPC1 | splice_region_variant&intron_variant | c.2796-4C>T | | 18 | 3 (unknown significance) | 0 | 1 | chr18:21119730 A>C | rs200892837 | NPC1 | intron_variant | c.2795+45T>G | | 18 | 3 (unknown significance) | 0 | 1 | chr18:21119739 C>T | rs373528365 | NPC1 | intron_variant | c.2795+36G>A | | 18 | 3 (unknown significance) | 0 | 1 | chr18:21119756 A>G | rs200103695 | NPC1 | splice_region_variant&intron_variant | c.2795+19T>C | | 18 | 1 (benign) | 0 | 48 | chr18:21119770 C>T | | NPC1 | splice_region_variant&intron_variant | c.2795+5G>A | | 18 | 4 (likely pathogenic) | 1 | 0 | chr18:21119774 C>G | | NPC1 | splice_donor_variant&intron_variant | c.2795+1G>C | | 18 | 3 (unknown significance) | 2 | 0 | chr18:21119777 G>A | rs1140458 | NPC1 | splice_region_variant&synonymous_variant | c.2793C>T | p.Asn931Asn | 18 | 1 (benign) | 30 | 5749 | chr18:21119784 A>G | | NPC1 | missense_variant | c.2786T>C | p.Leu929Pro | 18 | 3 (unknown significance) | 1 | 0 | chr18:21119787 T>G | rs28940897 | NPC1 | missense_variant | c.2783A>C | p.Gln928Pro | 18 | 3 (unknown significance) | 1 | 0 | chr18:21119790 G>A | rs753768576 | NPC1 | missense_variant | c.2780C>T | p.Ala927Val | 18 | 4 (likely pathogenic) | 2 | 0 | chr18:21119793 G>A | rs730880963 | NPC1 | missense_variant | c.2777C>T | p.Ala926Val | 18 | 4 (likely pathogenic) | 1 | 0 | chr18:21119794 C>T | rs564631426 | NPC1 | missense_variant | c.2776G>A | p.Ala926Thr | 18 | 4 (likely pathogenic) | 1 | 0 | chr18:21119795 G>A | rs147419225 | NPC1 | synonymous_variant | c.2775C>T | p.Asn925Asn | 18 | 2 (likely benign) | 0 | 1 | chr18:21119800 A>G | | NPC1 | missense_variant | c.2770T>C | p.Phe924Leu | 18 | 3 (unknown significance) | 1 | 0 | chr18:21119803 T>C | | NPC1 | missense_variant | c.2767A>G | p.Ile923Val | 18 | 4 (likely pathogenic) | 1 | 0 | chr18:21119806 G>A | rs786204641 | NPC1 | stop_gained | c.2764C>T | p.Gln922* | 18 | 5 (pathogenic) | 2 | 0 | chr18:21119808 T>G | | NPC1 | missense_variant | c.2762A>C | p.Gln921Pro | 18 | 5 (pathogenic) | 4 | 0 | chr18:21119809 G>A | rs786204512 | NPC1 | stop_gained | c.2761C>T | p.Gln921* | 18 | 5 (pathogenic) | 1 | 0 | chr18:21119812 C>T | | NPC1 | missense_variant | c.2758G>A | p.Val920Met | 18 | 4 (likely pathogenic) | 1 | 0 | chr18:21119817 GA>G | | NPC1 | frameshift_variant | c.2752delT | p.Ser918fs | 18 | 5 (pathogenic) | 1 | 0 | chr18:21119821 C>A | | NPC1 | missense_variant | c.2749G>T | p.Asp917Tyr | 18 | 2 (likely benign) | 1 | 0 | chr18:21119821 CATT>C | | NPC1 | conservative_inframe_deletion | c.2746_2748delAAT | p.Asn916del | 18 | 3 (unknown significance) | 1 | 0 | chr18:21119839 C>T | rs34302553 | NPC1 | missense_variant | c.2731G>A | p.Gly911Ser | 18 | 1 (benign) | 0 | 63 | chr18:21119842 C>T | rs768999208 | NPC1 | missense_variant | c.2728G>A | p.Gly910Ser | 18 | 4 (likely pathogenic) | 1 | 0 | chr18:21119865 G>C | rs374656358 | NPC1 | missense_variant | c.2705C>G | p.Ser902Cys | 18 | 2 (likely benign) | 0 | 1 | chr18:21119875 A>C | | NPC1 | missense_variant | c.2695T>G | p.Tyr899Asp | 18 | 4 (likely pathogenic) | 1 | 0 | chr18:21119881 G>T | | NPC1 | missense_variant | c.2689C>A | p.His897Asn | 18 | 3 (unknown significance) | 1 | 0 | chr18:21119887 C>T | | NPC1 | missense_variant | c.2683G>A | p.Glu895Lys | 18 | 3 (unknown significance) | 1 | 0 | chr18:21119900 G>C | rs780592540 | NPC1 | stop_gained | c.2670C>G | p.Tyr890* | 18 | 5 (pathogenic) | 1 | 0 | chr18:21119901 T>C | | NPC1 | missense_variant | c.2669A>G | p.Tyr890Cys | 18 | 4 (likely pathogenic) | 1 | 0 | chr18:21119905 C>T | rs120074130 | NPC1 | missense_variant | c.2665G>A | p.Val889Met | 18 | 4 (likely pathogenic) | 1 | 0 | chr18:21119908 G>A | | NPC1 | missense_variant | c.2662C>T | p.Pro888Ser | 18 | 4 (likely pathogenic) | 1 | 0 | chr18:21119909 C>T | rs9949660 | NPC1 | synonymous_variant | c.2661G>A | p.Pro887Pro | 18 | 1 (benign) | 1 | 66 | chr18:21119910 G>A | | NPC1 | missense_variant | c.2660C>T | p.Pro887Leu | 18 | 4 (likely pathogenic) | 2 | 0 | chr18:21119914 C>G | | NPC1 | missense_variant | c.2656G>C | p.Gly886Arg | 18 | 4 (likely pathogenic) | 1 | 0 | chr18:21119949 T>A | rs372030650 | NPC1 | missense_variant | c.2621A>T | p.Asp874Val | 18 | 4 (likely pathogenic) | 1 | 1 | chr18:21119958 T>G | | NPC1 | missense_variant | c.2612A>C | p.Tyr871Ser | 18 | 3 (unknown significance) | 1 | 0 | chr18:21120011 A>G | rs372589931 | NPC1 | intron_variant | c.2605-46T>C | | 17 | 3 (unknown significance) | 0 | 1 | chr18:21120035 T>C | rs7239575 | NPC1 | intron_variant | c.2605-70A>G | | 17 | 3 (unknown significance) | 1 | 0 | chr18:21120367 T>G | rs375625929 | NPC1 | intron_variant | c.2604+45A>C | | 17 | 3 (unknown significance) | 0 | 1 | chr18:21120381 TA>T | rs750769471 | NPC1 | intron_variant | c.2604+30delT | | 17 | 3 (unknown significance) | 1 | 0 | chr18:21120381 TAAA>T | rs747718529 | NPC1 | intron_variant | c.2604+28_2604+30delTTT | | 17 | n/a | 0 | 0 | chr18:21120381 TAAAA>T | rs780923854 | NPC1 | intron_variant | c.2604+27_2604+30delTTTT | | 17 | n/a | 0 | 0 | chr18:21120407 C>T | | NPC1 | splice_region_variant&intron_variant | c.2604+5G>A | | 17 | 4 (likely pathogenic) | 1 | 0 | chr18:21120417 G>A | | NPC1 | missense_variant | c.2599C>T | p.Pro867Ser | 17 | 3 (unknown significance) | 1 | 0 | chr18:21120422 G>A | | NPC1 | missense_variant | c.2594C>T | p.Ser865Leu | 17 | 4 (likely pathogenic) | 1 | 0 | chr18:21120431 T>A | | NPC1 | missense_variant | c.2585A>T | p.Gln862Leu | 17 | 3 (unknown significance) | 1 | 0 | chr18:21120444 T>C | rs1805082 | NPC1 | missense_variant | c.2572A>G | p.Ile858Val | 17 | 1 (benign) | 28 | 5758 | chr18:21120465 C>T | rs139297968 | NPC1 | missense_variant | c.2551G>A | p.Ala851Thr | 17 | 3 (unknown significance) | 0 | 2 | chr18:21120470 C>A | | NPC1 | missense_variant | c.2546G>T | p.Ser849Ile | 17 | 4 (likely pathogenic) | 1 | 0 | chr18:21120491 A>G | rs374068891 | NPC1 | missense_variant | c.2525T>C | p.Phe842Ser | 17 | 3 (unknown significance) | 0 | 1 | chr18:21120492 A>G | rs190298665 | NPC1 | missense_variant | c.2524T>C | p.Phe842Leu | 17 | 3 (unknown significance) | 0 | 1 | chr18:21120522 T>TA | rs751722320 | NPC1 | intron_variant | c.2515-22dupT | | 16 | 1 (benign) | 0 | 13 | chr18:21120551 T>G | rs371150397 | NPC1 | intron_variant | c.2515-50A>C | | 16 | 3 (unknown significance) | 0 | 1 | chr18:21120553 C>T | rs374713465 | NPC1 | intron_variant | c.2515-52G>A | | 16 | 3 (unknown significance) | 0 | 1 | chr18:21120869 A>G | rs1788821 | NPC1 | intron_variant | c.2514+163T>C | | 16 | 3 (unknown significance) | 1 | 0 | chr18:21121026 G>A | rs73392120 | NPC1 | splice_region_variant&intron_variant | c.2514+6C>T | | 16 | 2 (likely benign) | 0 | 213 | chr18:21121035 A>G | rs369793282 | NPC1 | synonymous_variant | c.2511T>C | p.Ile837Ile | 16 | 2 (likely benign) | 0 | 1 | chr18:21121036 AT>A | | NPC1 | frameshift_variant | c.2509delA | p.Ile837fs | 16 | 4 (likely pathogenic) | 1 | 0 | chr18:21121037 T>C | rs756239485 | NPC1 | missense_variant | c.2509A>G | p.Ile837Val | 16 | 2 (likely benign) | 1 | 0 | chr18:21121045 A>G | rs373435883 | NPC1 | missense_variant | c.2501T>C | p.Met834Thr | 16 | 2 (likely benign) | 0 | 1 | chr18:21121048 C>T | | NPC1 | stop_gained | c.2498G>A | p.Trp833* | 16 | 5 (pathogenic) | 1 | 0 | chr18:21121053 C>T | rs150000422 | NPC1 | synonymous_variant | c.2493G>A | p.Lys831Lys | 16 | 2 (likely benign) | 0 | 1 | chr18:21121057 A>G | | NPC1 | missense_variant | c.2489T>C | p.Leu830Pro | 16 | 3 (unknown significance) | 1 | 0 | chr18:21121072 T>C | rs550562774 | NPC1 | missense_variant | c.2474A>G | p.Tyr825Cys | 16 | 5 (pathogenic) | 2 | 0 | chr18:21121097 A>G | rs376980859 | NPC1 | synonymous_variant | c.2449T>C | p.Leu817Leu | 16 | 2 (likely benign) | 0 | 1 | chr18:21121108 G>C | | NPC1 | stop_gained | c.2438C>G | p.Ser813* | 16 | 5 (pathogenic) | 1 | 0 | chr18:21121118 C>A | rs145362908 | NPC1 | missense_variant | c.2428G>T | p.Val810Phe | 16 | 2 (likely benign) | 0 | 5 | chr18:21121148 A>G | | NPC1 | missense_variant | c.2398T>C | p.Cys800Arg | 16 | 4 (likely pathogenic) | 1 | 0 | chr18:21121172 T>C | rs767901474 | NPC1 | missense_variant&splice_region_variant | c.2374A>G | p.Lys792Glu | 16 | 3 (unknown significance) | 1 | 0 | chr18:21121192 CAA>C | rs762957434 | NPC1 | intron_variant | c.2374-22_2374-21delTT | | 15 | n/a | 0 | 0 | chr18:21121205 C>T | rs370805297 | NPC1 | intron_variant | c.2374-33G>A | | 15 | 3 (unknown significance) | 0 | 1 | chr18:21121213 G>A | rs113038890 | NPC1 | intron_variant | c.2374-41C>T | | 15 | 2 (likely benign) | 0 | 13 | chr18:21121228 T>C | rs368665311 | NPC1 | intron_variant | c.2373+42A>G | | 15 | 3 (unknown significance) | 0 | 1 | chr18:21121245 G>A | rs370996413 | NPC1 | intron_variant | c.2373+25C>T | | 15 | 3 (unknown significance) | 0 | 1 | chr18:21121277 C>T | rs483352891 | NPC1 | missense_variant | c.2366G>A | p.Arg789His | 15 | 4 (likely pathogenic) | 1 | 0 | chr18:21121278 G>A | | NPC1 | missense_variant | c.2365C>T | p.Arg789Cys | 15 | 4 (likely pathogenic) | 1 | 0 | chr18:21121278 G>C | | NPC1 | missense_variant | c.2365C>G | p.Arg789Gly | 15 | 4 (likely pathogenic) | 1 | 0 | chr18:21121291 C>G | rs140103678 | NPC1 | synonymous_variant | c.2352G>C | p.Gly784Gly | 15 | 2 (likely benign) | 0 | 2 | chr18:21121296 A>G | rs200384578 | NPC1 | synonymous_variant | c.2347T>C | p.Leu783Leu | 15 | 2 (likely benign) | 0 | 1 | chr18:21121304 A>C | | NPC1 | missense_variant | c.2339T>G | p.Val780Gly | 15 | 4 (likely pathogenic) | 1 | 0 | chr18:21121305 C>T | rs193182840 | NPC1 | missense_variant | c.2338G>A | p.Val780Met | 15 | 3 (unknown significance) | 0 | 1 | chr18:21121306 G>A | rs367654655 | NPC1 | synonymous_variant | c.2337C>T | p.Phe779Phe | 15 | 2 (likely benign) | 0 | 1 | chr18:21121308 A>G | | NPC1 | missense_variant | c.2335T>C | p.Phe779Leu | 15 | 4 (likely pathogenic) | 1 | 0 | chr18:21121319 T>G | rs80358253 | NPC1 | missense_variant | c.2324A>C | p.Gln775Pro | 15 | 5 (pathogenic) | 5 | 0 | chr18:21121320 G>A | | NPC1 | stop_gained | c.2323C>T | p.Gln775* | 15 | 5 (pathogenic) | 1 | 0 | chr18:21121339 G>A | rs183935795 | NPC1 | synonymous_variant | c.2304C>T | p.Val768Val | 15 | 2 (likely benign) | 0 | 1 | chr18:21121340 A>AC | rs483352881 | NPC1 | frameshift_variant | c.2302dupG | p.Val768fs | 15 | 4 (likely pathogenic) | 1 | 0 | chr18:21121343 G>A | | NPC1 | missense_variant | c.2300C>T | p.Ala767Val | 15 | 4 (likely pathogenic) | 1 | 0 | chr18:21121351 C>T | rs772565983 | NPC1 | synonymous_variant | c.2292G>A | p.Ala764Ala | 15 | 2 (likely benign) | 16 | 0 | chr18:21121352 G>A | rs773765255 | NPC1 | missense_variant | c.2291C>T | p.Ala764Val | 15 | 4 (likely pathogenic) | 2 | 0 | chr18:21121356 A>G | | NPC1 | missense_variant | c.2287T>C | p.Phe763Leu | 15 | 2 (likely benign) | 1 | 0 | chr18:21121357 G>A | rs372431637 | NPC1 | synonymous_variant | c.2286C>T | p.Leu762Leu | 15 | 2 (likely benign) | 0 | 1 | chr18:21121373 A>G | | NPC1 | missense_variant | c.2270T>C | p.Val757Ala | 15 | 4 (likely pathogenic) | 1 | 0 | chr18:21121382 A>T | | NPC1 | missense_variant | c.2261T>A | p.Met754Lys | 15 | 4 (likely pathogenic) | 1 | 0 | chr18:21121386 C>T | rs146874573 | NPC1 | missense_variant | c.2257G>A | p.Val753Met | 15 | 2 (likely benign) | 0 | 2 | chr18:21121387 G>C | rs199641393 | NPC1 | synonymous_variant | c.2256C>G | p.Ser752Ser | 15 | 2 (likely benign) | 0 | 1 | chr18:21121399 T>C | | NPC1 | splice_acceptor_variant&intron_variant | c.2246-2A>G | | 14 | 3 (unknown significance) | 1 | 0 | chr18:21121421 C>T | | NPC1 | intron_variant | c.2246-24G>A | | 14 | 3 (unknown significance) | 1 | 0 | chr18:21123311 GA>G | | NPC1 | intron_variant | c.2245+107delT | | 14 | 3 (unknown significance) | 1 | 0 | chr18:21123400 G>A | rs374377081 | NPC1 | splice_region_variant&intron_variant | c.2245+19C>T | | 14 | 3 (unknown significance) | 0 | 1 | chr18:21123418 C>T | | NPC1 | splice_donor_variant&intron_variant | c.2245+1G>A | | 14 | 3 (unknown significance) | 1 | 0 | chr18:21123423 G>A | rs2510342 | NPC1 | synonymous_variant | c.2241C>T | p.Phe747Phe | 14 | 2 (likely benign) | 1 | 0 | chr18:21123423 GA>G | | NPC1 | frameshift_variant | c.2240delT | p.Phe747fs | 14 | 4 (likely pathogenic) | 1 | 0 | chr18:21123430 G>T | rs752386083 | NPC1 | missense_variant | c.2234C>A | p.Ala745Glu | 14 | 4 (likely pathogenic) | 1 | 0 | chr18:21123432 TAC>T | rs483352882 | NPC1 | frameshift_variant | c.2230_2231delGT | p.Val744fs | 14 | 4 (likely pathogenic) | 1 | 0 | chr18:21123438 C>T | | NPC1 | synonymous_variant | c.2226G>A | p.Glu742Glu | 14 | 2 (likely benign) | 1 | 0 | chr18:21123440 C>T | | NPC1 | missense_variant | c.2224G>A | p.Glu742Lys | 14 | 4 (likely pathogenic) | 1 | 0 | chr18:21123441 AGAAAAG>A | | NPC1 | disruptive_inframe_deletion | c.2217_2222delCTTTTC | p.Phe740_Ser741del | 14 | 3 (unknown significance) | 1 | 0 | chr18:21123451 G>T | rs777286835 | NPC1 | stop_gained | c.2213C>A | p.Ser738* | 14 | 5 (pathogenic) | 2 | 0 | chr18:21123463 C>A | rs757475924 | NPC1 | missense_variant | c.2201G>T | p.Ser734Ile | 14 | 4 (likely pathogenic) | 1 | 0 | chr18:21123478 C>T | | NPC1 | missense_variant | c.2186G>A | p.Gly729Glu | 14 | 4 (likely pathogenic) | 1 | 0 | chr18:21123485 C>A | | NPC1 | missense_variant | c.2179G>T | p.Val727Phe | 14 | 4 (likely pathogenic) | 1 | 0 | chr18:21123487 C>G | rs483352890 | NPC1 | missense_variant | c.2177G>C | p.Arg726Thr | 14 | 4 (likely pathogenic) | 1 | 0 | chr18:21123493 A>G | | NPC1 | missense_variant | c.2171T>C | p.Leu724Pro | 14 | 3 (unknown significance) | 1 | 0 | chr18:21123523 C>T | rs375047023 | NPC1 | missense_variant | c.2141G>A | p.Arg714His | 14 | 3 (unknown significance) | 0 | 2 | chr18:21123534 C>G | | NPC1 | splice_acceptor_variant&intron_variant | c.2131-1G>C | | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21123536 TA>T | rs533551695;rs560653962;rs796757567 | NPC1 | splice_region_variant&intron_variant | c.2131-4delT | | 13 | 3 (unknown significance) | 1 | 0 | chr18:21123536 TAAA>T | rs554261783 | NPC1 | splice_region_variant&intron_variant | c.2131-6_2131-4delTTT | | 13 | n/a | 0 | 0 | chr18:21123536 TAAAA>T | rs777498131 | NPC1 | splice_region_variant&intron_variant | c.2131-7_2131-4delTTTT | | 13 | n/a | 0 | 0 | chr18:21123717 C>T | | NPC1 | intron_variant | c.2131-184G>A | | 13 | 3 (unknown significance) | 1 | 0 | chr18:21123738 A>T | | NPC1 | intron_variant | c.2131-205T>A | | 13 | 3 (unknown significance) | 1 | 0 | chr18:21123875 T>C | | NPC1 | intron_variant | c.2131-342A>G | | 13 | 3 (unknown significance) | 1 | 0 | chr18:21124285 C>G | rs369194182 | NPC1 | intron_variant | c.2130+23G>C | | 13 | 3 (unknown significance) | 0 | 1 | chr18:21124308 CT>C | | NPC1 | frameshift_variant&splice_region_variant | c.2129delA | p.Gln710fs | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124310 G>A | rs483352889 | NPC1 | stop_gained&splice_region_variant | c.2128C>T | p.Gln710* | 13 | 5 (pathogenic) | 1 | 0 | chr18:21124330 A>G | | NPC1 | missense_variant | c.2108T>C | p.Phe703Ser | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124335 G>A | rs7227375 | NPC1 | synonymous_variant | c.2103C>T | p.Asn701Asn | 13 | 1 (benign) | 1 | 167 | chr18:21124338 G>A | rs372517881 | NPC1 | synonymous_variant | c.2100C>T | p.Asp700Asp | 13 | 2 (likely benign) | 0 | 2 | chr18:21124340 C>T | | NPC1 | missense_variant | c.2098G>A | p.Asp700Asn | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124350 A>G | rs377179697 | NPC1 | synonymous_variant | c.2088T>C | p.Ala696Ala | 13 | 2 (likely benign) | 0 | 2 | chr18:21124355 G>C | rs370323921 | NPC1 | missense_variant | c.2083C>G | p.Leu695Val | 13 | 4 (likely pathogenic) | 1 | 1 | chr18:21124362 GA>G | | NPC1 | frameshift_variant | c.2075delT | p.Phe692fs | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124365 C>CGGGA | | NPC1 | frameshift_variant | c.2069_2072dupTCCC | p.Phe692fs | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124365 C>T | rs113013085 | NPC1 | synonymous_variant | c.2073G>A | p.Pro691Pro | 13 | 1 (benign) | 0 | 62 | chr18:21124366 G>A | | NPC1 | missense_variant | c.2072C>T | p.Pro691Leu | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124367 G>A | | NPC1 | missense_variant | c.2071C>T | p.Pro691Ser | 13 | 5 (pathogenic) | 2 | 0 | chr18:21124384 A>G | rs483352888 | NPC1 | missense_variant | c.2054T>C | p.Ile685Thr | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124388 G>A | | NPC1 | missense_variant | c.2050C>T | p.Leu684Phe | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124400 AC>A | | NPC1 | frameshift_variant | c.2037delG | p.Leu680fs | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124416 GAC>G | rs769114894 | NPC1 | frameshift_variant | c.2020_2021delGT | p.Val674fs | 13 | n/a | 0 | 0 | chr18:21124420 C>A | | NPC1 | missense_variant | c.2018G>T | p.Gly673Val | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124428 G>C | | NPC1 | missense_variant | c.2010C>G | p.Cys670Trp | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124438 G>A | | NPC1 | missense_variant | c.2000C>T | p.Ser667Leu | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124438 G>C | | NPC1 | missense_variant | c.2000C>G | p.Ser667Trp | 13 | 3 (unknown significance) | 1 | 0 | chr18:21124440 G>A | rs373250439 | NPC1 | synonymous_variant | c.1998C>T | p.Ser666Ser | 13 | 2 (likely benign) | 0 | 3 | chr18:21124441 C>T | rs750480579 | NPC1 | missense_variant | c.1997G>A | p.Ser666Asn | 13 | 3 (unknown significance) | 1 | 0 | chr18:21124448 C>T | rs376213990 | NPC1 | missense_variant | c.1990G>A | p.Val664Met | 13 | 4 (likely pathogenic) | 1 | 1 | chr18:21124458 G>A | rs150967430 | NPC1 | synonymous_variant | c.1980C>T | p.Gly660Gly | 13 | 2 (likely benign) | 0 | 1 | chr18:21124460 C>T | | NPC1 | missense_variant | c.1978G>A | p.Gly660Ser | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124462 G>A | rs140786703 | NPC1 | missense_variant | c.1976C>T | p.Ala659Val | 13 | 2 (likely benign) | 0 | 1 | chr18:21124468 C>G | | NPC1 | missense_variant | c.1970G>C | p.Gly657Ala | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124483 G>C | | NPC1 | missense_variant | c.1955C>G | p.Ser652Trp | 13 | 4 (likely pathogenic) | 1 | 0 | chr18:21124501 C>T | rs371122321 | NPC1 | splice_region_variant&intron_variant | c.1948-11G>A | | 12 | 2 (likely benign) | 0 | 3 | chr18:21124537 T>C | rs375574447 | NPC1 | intron_variant | c.1948-47A>G | | 12 | 3 (unknown significance) | 0 | 2 | chr18:21124877 G>A | rs200667921 | NPC1 | intron_variant | c.1947+47C>T | | 12 | 1 (benign) | 0 | 16 | chr18:21124895 AGAACAT>A | rs748436211 | NPC1 | intron_variant | c.1947+23_1947+28delATGTTC | | 12 | n/a | 0 | 0 | chr18:21124907 A>AC | rs3837910;rs55809701 | NPC1 | splice_region_variant&intron_variant | c.1947+16dupG | | 12 | 3 (unknown significance) | 0 | 1 | chr18:21124908 C>CCG | rs72283949 | NPC1 | splice_region_variant&intron_variant | c.1947+15_1947+16insCG | | 12 | 1 (benign) | 0 | 2460 | chr18:21124914 C>CG | | NPC1 | splice_region_variant&intron_variant | c.1947+9_1947+10insC | | 12 | 1 (benign) | 0 | 70 | chr18:21124914 C>G | rs71534236 | NPC1 | splice_region_variant&intron_variant | c.1947+10G>C | | 12 | 1 (benign) | 0 | 73 | chr18:21124916 C>G | rs66620415 | NPC1 | splice_region_variant&intron_variant | c.1947+8G>C | | 12 | 3 (unknown significance) | 1 | 0 | chr18:21124922 A>C | rs764472245 | NPC1 | splice_donor_variant&intron_variant | c.1947+2T>G | | 12 | 3 (unknown significance) | 1 | 0 | chr18:21124928 A>T | | NPC1 | missense_variant | c.1943T>A | p.Leu648His | 12 | 4 (likely pathogenic) | 1 | 0 | chr18:21124934 C>T | rs112387560 | NPC1 | missense_variant | c.1937G>A | p.Arg646His | 12 | 2 (likely benign) | 0 | 4 | chr18:21124935 G>A | rs368129141 | NPC1 | missense_variant | c.1936C>T | p.Arg646Cys | 12 | 2 (likely benign) | 0 | 1 | chr18:21124936 A>T | | NPC1 | stop_gained | c.1935T>A | p.Cys645* | 12 | 5 (pathogenic) | 1 | 0 | chr18:21124945 C>G | rs1788799 | NPC1 | missense_variant | c.1926G>C | p.Met642Ile | 12 | 1 (benign) | 38 | 9555 | chr18:21124953 C>T | | NPC1 | missense_variant | c.1918G>A | p.Gly640Arg | 12 | 4 (likely pathogenic) | 1 | 1 | chr18:21124955 A>G | | NPC1 | missense_variant | c.1916T>C | p.Leu639Ser | 12 | 3 (unknown significance) | 1 | 0 | chr18:21124964 G>A | | NPC1 | missense_variant | c.1907C>T | p.Ser636Phe | 12 | 4 (likely pathogenic) | 1 | 0 | chr18:21124969 A>G | rs141293476 | NPC1 | synonymous_variant | c.1902T>C | p.Tyr634Tyr | 12 | 2 (likely benign) | 0 | 2 | chr18:21124970 T>C | rs202140203 | NPC1 | missense_variant | c.1901A>G | p.Tyr634Cys | 12 | 4 (likely pathogenic) | 1 | 0 | chr18:21124979 A>C | | NPC1 | missense_variant | c.1892T>G | p.Met631Arg | 12 | 4 (likely pathogenic) | 1 | 0 | chr18:21124988 T>C | | NPC1 | missense_variant | c.1883A>G | p.Tyr628Cys | 12 | 4 (likely pathogenic) | 1 | 0 | chr18:21124998 CAACGGTG>C | rs756605670 | NPC1 | frameshift_variant | c.1866_1872delCACCGTT | p.Phe622fs | 12 | n/a | 0 | 0 | chr18:21125001 C>T | rs76615690 | NPC1 | missense_variant | c.1870G>A | p.Val624Ile | 12 | 2 (likely benign) | 0 | 1 | chr18:21125027 C>A | rs773351341 | NPC1 | missense_variant | c.1844G>T | p.Arg615Leu | 12 | 5 (pathogenic) | 2 | 0 | chr18:21125027 C>T | | NPC1 | missense_variant | c.1844G>A | p.Arg615His | 12 | 4 (likely pathogenic) | 1 | 0 | chr18:21125028 G>A | rs745777805 | NPC1 | missense_variant | c.1843C>T | p.Arg615Cys | 12 | 4 (likely pathogenic) | 1 | 0 | chr18:21125034 G>A | rs147281003 | NPC1 | synonymous_variant | c.1837C>T | p.Leu613Leu | 12 | 2 (likely benign) | 0 | 1 | chr18:21125035 T>G | | NPC1 | missense_variant | c.1836A>C | p.Glu612Asp | 12 | 4 (likely pathogenic) | 1 | 0 | chr18:21125039 T>C | rs483352887 | NPC1 | missense_variant | c.1832A>G | p.Asp611Gly | 12 | 4 (likely pathogenic) | 3 | 0 | chr18:21125046 T>A | | NPC1 | missense_variant | c.1825A>T | p.Ile609Phe | 12 | 3 (unknown significance) | 1 | 0 | chr18:21125052 G>A | | NPC1 | stop_gained | c.1819C>T | p.Arg607* | 12 | 5 (pathogenic) | 1 | 0 | chr18:21125052 G>T | rs377130051 | NPC1 | synonymous_variant | c.1819C>A | p.Arg607Arg | 12 | 2 (likely benign) | 0 | 2 | chr18:21125057 G>A | | NPC1 | missense_variant | c.1814C>T | p.Ala605Val | 12 | 3 (unknown significance) | 1 | 0 | chr18:21125070 TG>T | rs483352879 | NPC1 | frameshift_variant | c.1800delC | p.Ile601fs | 12 | 4 (likely pathogenic) | 1 | 0 | chr18:21125078 T>C | rs201236716 | NPC1 | missense_variant | c.1793A>G | p.Asn598Ser | 12 | 3 (unknown significance) | 0 | 1 | chr18:21125090 T>TA | rs867996982 | NPC1 | frameshift_variant | c.1780dupT | p.Tyr594fs | 12 | 3 (unknown significance) | 0 | 1 | chr18:21125105 T>C | rs147021046 | NPC1 | missense_variant | c.1766A>G | p.Asn589Ser | 12 | 1 (benign) | 0 | 7 | chr18:21125135 A>G | rs368241878 | NPC1 | intron_variant | c.1758-22T>C | | 11 | 2 (likely benign) | 0 | 9 | chr18:21127870 T>C | | NPC1 | intron_variant | c.1757+100A>G | | 11 | 3 (unknown significance) | 1 | 0 | chr18:21127932 A>G | rs372263688 | NPC1 | intron_variant | c.1757+38T>C | | 11 | 3 (unknown significance) | 0 | 1 | chr18:21127942 A>G | rs376778798 | NPC1 | intron_variant | c.1757+28T>C | | 11 | 3 (unknown significance) | 0 | 1 | chr18:21127971 C>T | rs369753548 | NPC1 | missense_variant&splice_region_variant | c.1756G>A | p.Glu586Lys | 11 | 2 (likely benign) | 0 | 2 | chr18:21127972 T>C | | NPC1 | splice_region_variant&synonymous_variant | c.1755A>G | p.Lys585Lys | 11 | 2 (likely benign) | 1 | 0 | chr18:21127987 G>C | | NPC1 | synonymous_variant | c.1740C>G | p.Ala580Ala | 11 | 2 (likely benign) | 1 | 0 | chr18:21128000 T>C | rs761660695 | NPC1 | missense_variant | c.1727A>G | p.Lys576Arg | 11 | 3 (unknown significance) | 1 | 0 | chr18:21128015 T>C | rs750033860 | NPC1 | missense_variant | c.1712A>G | p.Tyr571Cys | 11 | 3 (unknown significance) | 1 | 0 | chr18:21128032 G>A | rs373094778 | NPC1 | synonymous_variant | c.1695C>T | p.Phe565Phe | 11 | 2 (likely benign) | 0 | 1 | chr18:21128041 C>T | | NPC1 | synonymous_variant | c.1686G>A | p.Val562Val | 11 | 2 (likely benign) | 1 | 0 | chr18:21128053 G>GC | | NPC1 | frameshift_variant | c.1673_1674insG | p.Thr559fs | 11 | 4 (likely pathogenic) | 1 | 0 | chr18:21128055 C>A | rs201156397 | NPC1 | missense_variant | c.1672G>T | p.Ala558Ser | 11 | 4 (likely pathogenic) | 1 | 0 | chr18:21128055 C>T | rs201156397 | NPC1 | missense_variant | c.1672G>A | p.Ala558Thr | 11 | 4 (likely pathogenic) | 1 | 0 | chr18:21128073 C>T | | NPC1 | splice_acceptor_variant&intron_variant | c.1655-1G>A | | 10 | 4 (likely pathogenic) | 1 | 0 | chr18:21131544 C>T | rs374903116 | NPC1 | intron_variant | c.1654+47G>A | | 10 | 3 (unknown significance) | 0 | 1 | chr18:21131590 C>A | | NPC1 | splice_donor_variant&intron_variant | c.1654+1G>T | | 10 | 3 (unknown significance) | 1 | 0 | chr18:21131599 C>A | | NPC1 | missense_variant | c.1646G>T | p.Gly549Val | 10 | 4 (likely pathogenic) | 1 | 0 | chr18:21131616 CG>C | | NPC1 | frameshift_variant | c.1628delC | p.Pro543fs | 10 | 4 (likely pathogenic) | 1 | 0 | chr18:21131617 G>A | rs369368181 | NPC1 | missense_variant | c.1628C>T | p.Pro543Leu | 10 | 4 (likely pathogenic) | 1 | 1 | chr18:21131633 C>G | | NPC1 | missense_variant | c.1612G>C | p.Gly538Arg | 10 | 3 (unknown significance) | 1 | 0 | chr18:21131634 A>T | | NPC1 | missense_variant | c.1611T>A | p.Phe537Leu | 10 | 2 (likely benign) | 1 | 0 | chr18:21131637 C>T | rs372770463 | NPC1 | synonymous_variant | c.1608G>A | p.Thr536Thr | 10 | 2 (likely benign) | 0 | 3 | chr18:21131638 G>A | rs781523948 | NPC1 | missense_variant | c.1607C>T | p.Thr536Met | 10 | 4 (likely pathogenic) | 1 | 0 | chr18:21131641 C>A | | NPC1 | missense_variant | c.1604G>T | p.Gly535Val | 10 | 4 (likely pathogenic) | 1 | 0 | chr18:21131650 G>A | | NPC1 | missense_variant | c.1595C>T | p.Pro532Leu | 10 | 4 (likely pathogenic) | 2 | 0 | chr18:21131684 C>A | rs138184115 | NPC1 | missense_variant | c.1561G>T | p.Ala521Ser | 10 | 2 (likely benign) | 1 | 9 | chr18:21131739 C>T | rs375873137 | NPC1 | intron_variant | c.1554-48G>A | | 9 | 3 (unknown significance) | 0 | 1 | chr18:21134685 G>A | rs370814007 | NPC1 | intron_variant | c.1553+37C>T | | 9 | 3 (unknown significance) | 0 | 2 | chr18:21134704 T>C | rs373017634 | NPC1 | splice_region_variant&intron_variant | c.1553+18A>G | | 9 | 2 (likely benign) | 0 | 6 | chr18:21134721 C>G | | NPC1 | splice_donor_variant&intron_variant | c.1553+1G>C | | 9 | 3 (unknown significance) | 1 | 0 | chr18:21134722 C>T | rs483352886 | NPC1 | missense_variant&splice_region_variant | c.1553G>A | p.Arg518Gln | 9 | 4 (likely pathogenic) | 7 | 0 | chr18:21134723 G>A | rs377515417 | NPC1 | missense_variant&splice_region_variant | c.1552C>T | p.Arg518Trp | 9 | 4 (likely pathogenic) | 7 | 2 | chr18:21134726 C>T | rs201791992 | NPC1 | missense_variant | c.1549G>A | p.Val517Ile | 9 | 2 (likely benign) | 0 | 1 | chr18:21134733 C>T | rs371076898 | NPC1 | synonymous_variant | c.1542G>A | p.Leu514Leu | 9 | 2 (likely benign) | 0 | 1 | chr18:21134740 T>C | | NPC1 | missense_variant | c.1535A>G | p.His512Arg | 9 | 3 (unknown significance) | 1 | 0 | chr18:21134743 G>A | rs13381670 | NPC1 | missense_variant | c.1532C>T | p.Thr511Met | 9 | 2 (likely benign) | 1 | 42 | chr18:21134746 T>G | | NPC1 | missense_variant | c.1529A>C | p.His510Pro | 9 | 4 (likely pathogenic) | 2 | 0 | chr18:21134749 T>C | | NPC1 | missense_variant | c.1526A>G | p.Tyr509Cys | 9 | 3 (unknown significance) | 1 | 0 | chr18:21134749 T>G | | NPC1 | missense_variant | c.1526A>C | p.Tyr509Ser | 9 | 4 (likely pathogenic) | 1 | 0 | chr18:21134769 G>C | rs191537721 | NPC1 | missense_variant | c.1506C>G | p.Asp502Glu | 9 | 2 (likely benign) | 0 | 1 | chr18:21134772 G>A | rs116046557 | NPC1 | synonymous_variant | c.1503C>T | p.Asp501Asp | 9 | 1 (benign) | 0 | 223 | chr18:21134773 T>A | rs483352885 | NPC1 | missense_variant | c.1502A>T | p.Asp501Val | 9 | 4 (likely pathogenic) | 1 | 0 | chr18:21134774 C>A | | NPC1 | missense_variant | c.1501G>T | p.Asp501Tyr | 9 | 4 (likely pathogenic) | 1 | 0 | chr18:21134795 C>T | rs199812609 | NPC1 | missense_variant | c.1480G>A | p.Val494Met | 9 | 2 (likely benign) | 0 | 1 | chr18:21134796 G>A | rs148078801 | NPC1 | synonymous_variant | c.1479C>T | p.Ser493Ser | 9 | 2 (likely benign) | 0 | 1 | chr18:21134803 C>T | rs370758521 | NPC1 | missense_variant | c.1472G>A | p.Ser491Asn | 9 | 2 (likely benign) | 0 | 1 | chr18:21134832 AATGGTG>A | | NPC1 | disruptive_inframe_deletion | c.1437_1442delCACCAT | p.Thr480_Ile481del | 9 | 3 (unknown significance) | 1 | 0 | chr18:21134839 C>T | | NPC1 | missense_variant | c.1436G>A | p.Cys479Tyr | 9 | 4 (likely pathogenic) | 1 | 0 | chr18:21134842 T>G | | NPC1 | missense_variant | c.1433A>C | p.Asn478Thr | 9 | 4 (likely pathogenic) | 1 | 0 | chr18:21134844 C>T | rs375307057 | NPC1 | synonymous_variant | c.1431G>A | p.Thr477Thr | 9 | 2 (likely benign) | 0 | 4 | chr18:21134853 C>T | rs367900403 | NPC1 | synonymous_variant | c.1422G>A | p.Pro474Pro | 9 | 2 (likely benign) | 0 | 1 | chr18:21134854 G>A | rs372445155 | NPC1 | missense_variant | c.1421C>T | p.Pro474Leu | 9 | 4 (likely pathogenic) | 3 | 1 | chr18:21134855 G>C | | NPC1 | missense_variant | c.1420C>G | p.Pro474Ala | 9 | 4 (likely pathogenic) | 1 | 0 | chr18:21134858 A>G | | NPC1 | missense_variant | c.1417T>C | p.Ser473Pro | 9 | 3 (unknown significance) | 1 | 0 | chr18:21134860 A>G | | NPC1 | missense_variant | c.1415T>C | p.Leu472Pro | 9 | 4 (likely pathogenic) | 1 | 0 | chr18:21134860 A>T | | NPC1 | missense_variant | c.1415T>A | p.Leu472His | 9 | 4 (likely pathogenic) | 1 | 0 | chr18:21134863 G>A | rs201226297 | NPC1 | missense_variant | c.1412C>T | p.Pro471Leu | 9 | 3 (unknown significance) | 0 | 1 | chr18:21134867 C>G | | NPC1 | missense_variant | c.1408G>C | p.Ala470Pro | 9 | 3 (unknown significance) | 1 | 0 | chr18:21134908 G>A | rs374159264 | NPC1 | missense_variant | c.1367C>T | p.Ser456Phe | 9 | 2 (likely benign) | 0 | 1 | chr18:21134919 GT>G | | NPC1 | frameshift_variant | c.1355delA | p.Asn452fs | 9 | 4 (likely pathogenic) | 1 | 0 | chr18:21134924 C>T | rs781065429 | NPC1 | missense_variant | c.1351G>A | p.Glu451Lys | 9 | 4 (likely pathogenic) | 2 | 0 | chr18:21134925 G>A | rs368945671 | NPC1 | synonymous_variant | c.1350C>T | p.Ile450Ile | 9 | 2 (likely benign) | 0 | 1 | chr18:21134927 T>C | rs141892620 | NPC1 | missense_variant | c.1348A>G | p.Ile450Val | 9 | 2 (likely benign) | 0 | 3 | chr18:21134929 G>A | rs372289265 | NPC1 | missense_variant | c.1346C>T | p.Ala449Val | 9 | 2 (likely benign) | 0 | 1 | chr18:21134936 G>A | | NPC1 | stop_gained | c.1339C>T | p.Gln447* | 9 | 5 (pathogenic) | 2 | 0 | chr18:21134952 AAAG>A | rs758597983 | NPC1 | splice_region_variant&intron_variant | c.1327-7_1327-5delCTT | | 8 | n/a | 0 | 0 | chr18:21134957 A>T | rs375922122 | NPC1 | splice_region_variant&intron_variant | c.1327-9T>A | | 8 | 3 (unknown significance) | 0 | 1 | chr18:21134987 C>T | rs368990902 | NPC1 | intron_variant | c.1327-39G>A | | 8 | 3 (unknown significance) | 0 | 1 | chr18:21136232 G>A | rs774333145 | NPC1 | missense_variant | c.1301C>T | p.Pro434Leu | 8 | 3 (unknown significance) | 1 | 0 | chr18:21136233 G>A | rs61731962 | NPC1 | missense_variant | c.1300C>T | p.Pro434Ser | 8 | 1 (benign) | 0 | 189 | chr18:21136235 G>A | | NPC1 | missense_variant | c.1298C>T | p.Pro433Leu | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136258 C>T | rs190032589 | NPC1 | synonymous_variant | c.1275G>A | p.Ser425Ser | 8 | 2 (likely benign) | 0 | 1 | chr18:21136259 G>A | rs140149624 | NPC1 | missense_variant | c.1274C>T | p.Ser425Leu | 8 | 2 (likely benign) | 1 | 1 | chr18:21136259 G>T | | NPC1 | stop_gained | c.1274C>A | p.Ser425* | 8 | 5 (pathogenic) | 1 | 0 | chr18:21136263 G>C | rs143797098 | NPC1 | missense_variant | c.1270C>G | p.Pro424Ala | 8 | 2 (likely benign) | 0 | 1 | chr18:21136272 G>A | | NPC1 | stop_gained | c.1261C>T | p.Gln421* | 8 | 5 (pathogenic) | 1 | 0 | chr18:21136290 TGA>T | | NPC1 | frameshift_variant | c.1241_1242delTC | p.Leu414fs | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136301 C>T | rs77080672 | NPC1 | missense_variant | c.1232G>A | p.Arg411Gln | 8 | 1 (benign) | 0 | 26 | chr18:21136322 C>G | | NPC1 | missense_variant | c.1211G>C | p.Arg404Pro | 8 | 3 (unknown significance) | 1 | 0 | chr18:21136322 C>T | rs139751448 | NPC1 | missense_variant | c.1211G>A | p.Arg404Gln | 8 | 5 (pathogenic) | 2 | 1 | chr18:21136323 G>A | | NPC1 | missense_variant | c.1210C>T | p.Arg404Trp | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136325 A>G | rs371234970 | NPC1 | missense_variant | c.1208T>C | p.Phe403Ser | 8 | 3 (unknown significance) | 0 | 1 | chr18:21136331 G>A | | NPC1 | missense_variant | c.1202C>T | p.Pro401Leu | 8 | 5 (pathogenic) | 2 | 0 | chr18:21136332 G>T | | NPC1 | missense_variant | c.1201C>A | p.Pro401Thr | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136335 C>G | | NPC1 | missense_variant | c.1198G>C | p.Gly400Arg | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136341 G>A | | NPC1 | missense_variant | c.1192C>T | p.His398Tyr | 8 | 3 (unknown significance) | 1 | 0 | chr18:21136342 C>T | rs374959321 | NPC1 | synonymous_variant | c.1191G>A | p.Gln397Gln | 8 | 2 (likely benign) | 0 | 1 | chr18:21136344 G>A | | NPC1 | stop_gained | c.1189C>T | p.Gln397* | 8 | 5 (pathogenic) | 1 | 0 | chr18:21136361 T>C | | NPC1 | missense_variant | c.1172A>G | p.Glu391Gly | 8 | n/a | 1 | 0 | chr18:21136363 C>T | rs369109734 | NPC1 | synonymous_variant | c.1170G>A | p.Leu390Leu | 8 | 2 (likely benign) | 0 | 2 | chr18:21136367 C>A | | NPC1 | missense_variant | c.1166G>T | p.Arg389Leu | 8 | 4 (likely pathogenic) | 2 | 0 | chr18:21136367 C>T | rs373751051 | NPC1 | missense_variant | c.1166G>A | p.Arg389His | 8 | 2 (likely benign) | 0 | 0 | chr18:21136368 G>A | | NPC1 | missense_variant | c.1165C>T | p.Arg389Cys | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136370 G>A | | NPC1 | missense_variant | c.1163C>T | p.Ala388Val | 8 | 5 (pathogenic) | 1 | 0 | chr18:21136371 C>G | | NPC1 | missense_variant | c.1162G>C | p.Ala388Pro | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136390 C>G | | NPC1 | missense_variant | c.1143G>C | p.Trp381Cys | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136395 G>A | | NPC1 | missense_variant | c.1138C>T | p.Leu380Phe | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136400 A>G | rs120074134 | NPC1 | missense_variant | c.1133T>C | p.Val378Ala | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136402 TG>T | | NPC1 | frameshift_variant | c.1130delC | p.Pro377fs | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136416 C>G | | NPC1 | missense_variant | c.1117G>C | p.Val373Leu | 8 | n/a | 1 | 0 | chr18:21136418 C>T | rs150053420 | NPC1 | missense_variant | c.1115G>A | p.Arg372Gln | 8 | 2 (likely benign) | 0 | 1 | chr18:21136419 G>A | | NPC1 | missense_variant | c.1114C>T | p.Arg372Trp | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136420 GA>G | | NPC1 | frameshift_variant | c.1112delT | p.Val371fs | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136438 C>T | rs150597260 | NPC1 | synonymous_variant | c.1095G>A | p.Ser365Ser | 8 | 2 (likely benign) | 0 | 1 | chr18:21136440 A>G | | NPC1 | missense_variant | c.1093T>C | p.Ser365Pro | 8 | n/a | 1 | 0 | chr18:21136462 C>T | rs61731964 | NPC1 | synonymous_variant | c.1071G>A | p.Ser357Ser | 8 | 1 (benign) | 0 | 53 | chr18:21136463 G>A | | NPC1 | missense_variant | c.1070C>T | p.Ser357Leu | 8 | n/a | 1 | 0 | chr18:21136474 G>A | rs138567139 | NPC1 | synonymous_variant | c.1059C>T | p.Val353Val | 8 | 2 (likely benign) | 0 | 1 | chr18:21136478 C>A | rs149020783 | NPC1 | missense_variant | c.1055G>T | p.Cys352Phe | 8 | 2 (likely benign) | 0 | 2 | chr18:21136491 G>A | | NPC1 | stop_gained | c.1042C>T | p.Arg348* | 8 | 5 (pathogenic) | 1 | 0 | chr18:21136494 C>T | rs376741451 | NPC1 | missense_variant | c.1039G>A | p.Val347Ile | 8 | 2 (likely benign) | 0 | 2 | chr18:21136495 G>A | rs142119577 | NPC1 | synonymous_variant | c.1038C>T | p.Cys346Cys | 8 | 2 (likely benign) | 0 | 1 | chr18:21136502 GA>G | rs483352883 | NPC1 | frameshift_variant | c.1030delT | p.Ser344fs | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136511 C>G | rs370181667 | NPC1 | missense_variant | c.1022G>C | p.Arg341Pro | 8 | 2 (likely benign) | 0 | 1 | chr18:21136522 C>A | rs147795644 | NPC1 | synonymous_variant | c.1011G>T | p.Arg337Arg | 8 | 2 (likely benign) | 0 | 5 | chr18:21136523 C>T | rs373390781 | NPC1 | missense_variant | c.1010G>A | p.Arg337Gln | 8 | 2 (likely benign) | 0 | 1 | chr18:21136535 C>T | | NPC1 | missense_variant | c.998G>A | p.Gly333Asp | 8 | 3 (unknown significance) | 1 | 0 | chr18:21136554 C>T | rs141361998 | NPC1 | missense_variant | c.979G>A | p.Val327Ile | 8 | 2 (likely benign) | 0 | 1 | chr18:21136558 G>GTC | | NPC1 | frameshift_variant | c.973_974dupGA | p.Asp325fs | 8 | 4 (likely pathogenic) | 1 | 0 | chr18:21136567 G>A | rs61731965 | NPC1 | synonymous_variant | c.966C>T | p.Ser322Ser | 8 | 1 (benign) | 0 | 180 | chr18:21136571 G>A | rs138079168 | NPC1 | missense_variant | c.962C>T | p.Ala321Val | 8 | 2 (likely benign) | 0 | 1 | chr18:21136607 G>A | rs369916983 | NPC1 | intron_variant | c.956-30C>T | | 7 | 3 (unknown significance) | 0 | 2 | chr18:21136608 A>C | rs372170535 | NPC1 | intron_variant | c.956-31T>G | | 7 | 3 (unknown significance) | 0 | 1 | chr18:21136622 G>A | rs375855008 | NPC1 | intron_variant | c.956-45C>T | | 7 | 3 (unknown significance) | 0 | 1 | chr18:21136624 C>T | rs368982805 | NPC1 | intron_variant | c.956-47G>A | | 7 | 3 (unknown significance) | 0 | 1 | chr18:21136625 G>A | rs373455910 | NPC1 | intron_variant | c.956-48C>T | | 7 | 3 (unknown significance) | 0 | 1 | chr18:21137031 TGACA>T | rs764603220 | NPC1 | intron_variant | c.955+46_955+49delTGTC | | 7 | n/a | 0 | 0 | chr18:21137071 A>T | rs377697871 | NPC1 | splice_region_variant&intron_variant | c.955+10T>A | | 7 | 3 (unknown significance) | 0 | 1 | chr18:21137076 C>T | | NPC1 | splice_region_variant&intron_variant | c.955+5G>A | | 7 | 3 (unknown significance) | 1 | 0 | chr18:21137080 C>T | | NPC1 | splice_donor_variant&intron_variant | c.955+1G>A | | 7 | 3 (unknown significance) | 1 | 0 | chr18:21137081 C>T | | NPC1 | missense_variant&splice_region_variant | c.955G>A | p.Gly319Arg | 7 | 3 (unknown significance) | 1 | 0 | chr18:21137100 A>C | rs377568493 | NPC1 | synonymous_variant | c.936T>G | p.Ser312Ser | 7 | 2 (likely benign) | 0 | 1 | chr18:21137124 G>A | rs140894981 | NPC1 | synonymous_variant | c.912C>T | p.Pro304Pro | 7 | 2 (likely benign) | 0 | 3 | chr18:21137135 C>T | rs150154006 | NPC1 | missense_variant | c.901G>A | p.Glu301Lys | 7 | 2 (likely benign) | 0 | 1 | chr18:21137136 G>A | rs377728310 | NPC1 | synonymous_variant | c.900C>T | p.Ser300Ser | 7 | 2 (likely benign) | 0 | 2 | chr18:21137147 A>T | | NPC1 | missense_variant | c.889T>A | p.Tyr297Asn | 7 | n/a | 1 | 0 | chr18:21137148 C>T | rs369775984 | NPC1 | synonymous_variant | c.888G>A | p.Arg296Arg | 7 | 2 (likely benign) | 0 | 2 | chr18:21137182 T>A | | NPC1 | intron_variant | c.882-28A>T | | 6 | 3 (unknown significance) | 1 | 0 | chr18:21137182 T>C | | NPC1 | intron_variant | c.882-28A>G | | 6 | 3 (unknown significance) | 1 | 0 | chr18:21137194 A>T | rs144469784 | NPC1 | intron_variant | c.882-40T>A | | 6 | 1 (benign) | 0 | 48 | chr18:21137201 T>G | | NPC1 | intron_variant | c.882-47A>C | | 6 | 3 (unknown significance) | 1 | 0 | chr18:21140158 G>C | rs142700149 | NPC1 | intron_variant | c.881+37C>G | | 6 | 1 (benign) | 0 | 53 | chr18:21140203 C>A | rs138151007 | NPC1 | missense_variant | c.873G>T | p.Trp291Cys | 6 | 3 (unknown significance) | 0 | 7 | chr18:21140206 C>T | rs149559712 | NPC1 | synonymous_variant | c.870G>A | p.Val290Val | 6 | 2 (likely benign) | 0 | 1 | chr18:21140223 CA>C | | NPC1 | frameshift_variant | c.852delT | p.Phe284fs | 6 | 4 (likely pathogenic) | 7 | 0 | chr18:21140229 A>G | | NPC1 | missense_variant | c.847T>C | p.Phe283Leu | 6 | 3 (unknown significance) | 1 | 0 | chr18:21140230 CA>C | | NPC1 | frameshift_variant | c.845delT | p.Val282fs | 6 | 4 (likely pathogenic) | 1 | 0 | chr18:21140235 G>A | rs377132020 | NPC1 | missense_variant | c.841C>T | p.Leu281Phe | 6 | 2 (likely benign) | 0 | 1 | chr18:21140242 C>T | rs146105340 | NPC1 | synonymous_variant | c.834G>A | p.Ala278Ala | 6 | 2 (likely benign) | 0 | 1 | chr18:21140250 AG>A | rs765613304 | NPC1 | frameshift_variant | c.825delC | p.Tyr276fs | 6 | n/a | 1 | 0 | chr18:21140260 CATG>C | | NPC1 | disruptive_inframe_deletion | c.813_815delCAT | p.Ile271del | 6 | 3 (unknown significance) | 1 | 0 | chr18:21140261 A>C | | NPC1 | missense_variant | c.815T>G | p.Met272Arg | 6 | 4 (likely pathogenic) | 2 | 0 | chr18:21140265 T>C | rs370810779 | NPC1 | missense_variant | c.811A>G | p.Ile271Val | 6 | 2 (likely benign) | 0 | 1 | chr18:21140278 G>A | rs199887728 | NPC1 | synonymous_variant | c.798C>T | p.Asp266Asp | 6 | 2 (likely benign) | 0 | 1 | chr18:21140279 T>C | rs370188327 | NPC1 | missense_variant | c.797A>G | p.Asp266Gly | 6 | 3 (unknown significance) | 0 | 1 | chr18:21140290 G>A | rs138856517 | NPC1 | synonymous_variant | c.786C>T | p.Ile262Ile | 6 | 2 (likely benign) | 0 | 2 | chr18:21140294 G>A | rs374169117 | NPC1 | missense_variant | c.782C>T | p.Thr261Met | 6 | 2 (likely benign) | 0 | 1 | chr18:21140296 C>T | | NPC1 | stop_gained | c.780G>A | p.Trp260* | 6 | 5 (pathogenic) | 1 | 0 | chr18:21140304 CAGG>C | rs750666927 | NPC1 | conservative_inframe_deletion | c.769_771delCCT | p.Pro257del | 6 | n/a | 0 | 0 | chr18:21140307 G>A | rs368776731 | NPC1 | missense_variant | c.769C>T | p.Pro257Ser | 6 | 2 (likely benign) | 0 | 1 | chr18:21140312 G>C | rs371023983 | NPC1 | missense_variant | c.764C>G | p.Pro255Arg | 6 | 2 (likely benign) | 0 | 1 | chr18:21140313 G>A | rs373815982 | NPC1 | missense_variant | c.763C>T | p.Pro255Ser | 6 | 2 (likely benign) | 0 | 1 | chr18:21140333 C>A | | NPC1 | missense_variant | c.743G>T | p.Gly248Val | 6 | 4 (likely pathogenic) | 1 | 0 | chr18:21140336 C>T | | NPC1 | missense_variant | c.740G>A | p.Cys247Tyr | 6 | 4 (likely pathogenic) | 1 | 0 | chr18:21140352 C>G | | NPC1 | missense_variant | c.724G>C | p.Asp242His | 6 | 4 (likely pathogenic) | 1 | 0 | chr18:21140352 C>T | | NPC1 | missense_variant | c.724G>A | p.Asp242Asn | 6 | 4 (likely pathogenic) | 1 | 0 | chr18:21140364 A>G | | NPC1 | missense_variant | c.712T>C | p.Cys238Arg | 6 | n/a | 1 | 0 | chr18:21140366 G>A | | NPC1 | missense_variant | c.710C>T | p.Pro237Leu | 6 | 1 (benign) | 1 | 0 | chr18:21140367 G>A | rs80358251 | NPC1 | missense_variant | c.709C>T | p.Pro237Ser | 6 | 1 (benign) | 4 | 150 | chr18:21140381 T>C | rs201956601 | NPC1 | missense_variant | c.695A>G | p.Asp232Gly | 6 | 2 (likely benign) | 0 | 1 | chr18:21140382 CCA>C | | NPC1 | frameshift_variant | c.692_693delTG | p.Val231fs | 6 | n/a | 1 | 0 | chr18:21140382 CCACAGA>C | rs758687942 | NPC1 | conservative_inframe_deletion | c.688_693delTCTGTG | p.Ser230_Val231del | 6 | 3 (unknown significance) | 0 | 3 | chr18:21140384 A>C | | NPC1 | missense_variant | c.692T>G | p.Val231Gly | 6 | 3 (unknown significance) | 1 | 0 | chr18:21140404 G>A | rs146370165 | NPC1 | synonymous_variant | c.672C>T | p.Thr224Thr | 6 | 2 (likely benign) | 0 | 1 | chr18:21140411 T>C | rs55680026 | NPC1 | missense_variant | c.665A>G | p.Asn222Ser | 6 | 1 (benign) | 1 | 59 | chr18:21140432 T>C | rs1805081 | NPC1 | missense_variant | c.644A>G | p.His215Arg | 6 | 1 (benign) | 27 | 3849 | chr18:21140439 GA>G | | NPC1 | frameshift_variant | c.636delT | p.Pro213fs | 6 | 4 (likely pathogenic) | 1 | 0 | chr18:21140477 CAATT>C | rs751704610 | NPC1 | intron_variant | c.632-37_632-34delAATT | | 5 | n/a | 0 | 0 | chr18:21140480 T>C | rs199959757 | NPC1 | intron_variant | c.632-36A>G | | 5 | 1 (benign) | 0 | 15 | chr18:21141305 T>C | rs371704068 | NPC1 | splice_region_variant&intron_variant | c.631+19A>G | | 5 | 2 (likely benign) | 0 | 4 | chr18:21141307 G>A | rs115397659 | NPC1 | splice_region_variant&intron_variant | c.631+17C>T | | 5 | 2 (likely benign) | 0 | 12 | chr18:21141324 C>A | rs367851289 | NPC1 | missense_variant&splice_region_variant | c.631G>T | p.Asp211Tyr | 5 | 3 (unknown significance) | 0 | 1 | chr18:21141326 G>T | | NPC1 | stop_gained&splice_region_variant | c.629C>A | p.Ser210* | 5 | 5 (pathogenic) | 1 | 0 | chr18:21141333 C>G | rs372416248 | NPC1 | missense_variant | c.622G>C | p.Val208Leu | 5 | 2 (likely benign) | 0 | 1 | chr18:21141335 GGAGT>G | | NPC1 | frameshift_variant | c.616_619delACTC | p.Thr206fs | 5 | 4 (likely pathogenic) | 1 | 0 | chr18:21141343 G>A | rs151084683 | NPC1 | synonymous_variant | c.612C>T | p.Thr204Thr | 5 | 1 (benign) | 1 | 17 | chr18:21141350 GGTGCCT>G | | NPC1 | disruptive_inframe_deletion | c.599_604delAGGCAC | p.Gln200_Ala201del | 5 | 3 (unknown significance) | 1 | 0 | chr18:21141388 C>T | | NPC1 | stop_gained | c.567G>A | p.Trp189* | 5 | 5 (pathogenic) | 1 | 0 | chr18:21141392 T>C | rs549048534 | NPC1 | missense_variant | c.563A>G | p.Asn188Ser | 5 | n/a | 1 | 0 | chr18:21141402 T>C | rs139485263 | NPC1 | missense_variant | c.553A>G | p.Asn185Asp | 5 | 2 (likely benign) | 0 | 3 | chr18:21141407 G>A | rs192963719 | NPC1 | missense_variant | c.548C>T | p.Ala183Val | 5 | 2 (likely benign) | 0 | 1 | chr18:21141408 C>T | rs111256741 | NPC1 | missense_variant | c.547G>A | p.Ala183Thr | 5 | 2 (likely benign) | 0 | 4 | chr18:21141411 C>T | rs201021988 | NPC1 | missense_variant | c.544G>A | p.Asp182Asn | 5 | 2 (likely benign) | 0 | 1 | chr18:21141415 G>A | rs143656971 | NPC1 | synonymous_variant | c.540C>T | p.Asp180Asp | 5 | 1 (benign) | 1 | 25 | chr18:21141425 C>T | rs80358252 | NPC1 | missense_variant | c.530G>A | p.Cys177Tyr | 5 | 5 (pathogenic) | 2 | 0 | chr18:21141426 A>C | | NPC1 | missense_variant | c.529T>G | p.Cys177Gly | 5 | 4 (likely pathogenic) | 1 | 0 | chr18:21141435 C>G | rs370098528 | NPC1 | missense_variant | c.520G>C | p.Gly174Arg | 5 | 2 (likely benign) | 0 | 1 | chr18:21141458 G>A | | NPC1 | missense_variant | c.497C>T | p.Pro166Leu | 5 | 3 (unknown significance) | 1 | 0 | chr18:21141459 G>A | rs866966704 | NPC1 | missense_variant | c.496C>T | p.Pro166Ser | 5 | 4 (likely pathogenic) | 1 | 0 | chr18:21141461 G>A | | NPC1 | missense_variant | c.494C>T | p.Ala165Val | 5 | n/a | 1 | 0 | chr18:21141474 G>A | rs141243713 | NPC1 | missense_variant | c.481C>T | p.Arg161Trp | 5 | 3 (unknown significance) | 0 | 2 | chr18:21141484 G>A | rs145101354 | NPC1 | synonymous_variant | c.471C>T | p.Tyr157Tyr | 5 | 2 (likely benign) | 0 | 5 | chr18:21141488 A>G | rs147615070 | NPC1 | missense_variant | c.467T>C | p.Met156Thr | 5 | 2 (likely benign) | 0 | 1 | chr18:21141489 T>C | rs149074243 | NPC1 | missense_variant&splice_region_variant | c.466A>G | p.Met156Val | 5 | 2 (likely benign) | 0 | 6 | chr18:21141493 T>G | | NPC1 | splice_acceptor_variant&intron_variant | c.464-2A>C | | 4 | 4 (likely pathogenic) | 1 | 0 | chr18:21148768 T>C | rs117512587 | NPC1 | splice_region_variant&intron_variant | c.463+19A>G | | 4 | 1 (benign) | 0 | 33 | chr18:21148772 TAA>T | rs777614426 | NPC1 | splice_region_variant&intron_variant | c.463+13_463+14delTT | | 4 | 2 (likely benign) | 0 | 4 | chr18:21148797 ACT>A | rs749012588 | NPC1 | frameshift_variant | c.451_452delAG | p.Ser151fs | 4 | 4 (likely pathogenic) | 1 | 0 | chr18:21148799 T>C | rs17855819 | NPC1 | missense_variant | c.451A>G | p.Ser151Gly | 4 | 3 (unknown significance) | 1 | 0 | chr18:21148801 T>C | rs375940577 | NPC1 | missense_variant | c.449A>G | p.Gln150Arg | 4 | 2 (likely benign) | 0 | 1 | chr18:21148805 C>T | rs143205855 | NPC1 | missense_variant | c.445G>A | p.Gly149Arg | 4 | 2 (likely benign) | 0 | 1 | chr18:21148808 C>G | rs200323346 | NPC1 | missense_variant | c.442G>C | p.Val148Leu | 4 | 2 (likely benign) | 0 | 1 | chr18:21148812 G>C | | NPC1 | stop_gained | c.438C>G | p.Tyr146* | 4 | n/a | 1 | 0 | chr18:21148821 CTCTT>C | rs770580241 | NPC1 | frameshift_variant | c.425_428delAAGA | p.Lys142fs | 4 | 4 (likely pathogenic) | 1 | 0 | chr18:21148825 T>TTC | rs773941375 | NPC1 | frameshift_variant | c.423_424dupGA | p.Lys142fs | 4 | 4 (likely pathogenic) | 1 | 0 | chr18:21148830 A>G | rs369039319 | NPC1 | synonymous_variant | c.420T>C | p.Asn140Asn | 4 | 2 (likely benign) | 0 | 1 | chr18:21148840 G>A | rs372947142 | NPC1 | missense_variant | c.410C>T | p.Thr137Met | 4 | 3 (unknown significance) | 1 | 1 | chr18:21148854 AG>A | | NPC1 | frameshift_variant | c.395delC | p.Pro132fs | 4 | 4 (likely pathogenic) | 1 | 0 | chr18:21148863 A>G | rs12970899 | NPC1 | synonymous_variant | c.387T>C | p.Tyr129Tyr | 4 | 1 (benign) | 17 | 1796 | chr18:21148896 ACT>A | rs759075595 | NPC1 | frameshift_variant | c.352_353delAG | p.Gln119fs | 4 | 4 (likely pathogenic) | 2 | 1 | chr18:21148903 C>T | rs140952850 | NPC1 | missense_variant | c.347G>A | p.Arg116Gln | 4 | 2 (likely benign) | 0 | 2 | chr18:21148904 G>A | rs144973225 | NPC1 | stop_gained | c.346C>T | p.Arg116* | 4 | 5 (pathogenic) | 2 | 1 | chr18:21148913 A>G | rs120074136 | NPC1 | missense_variant | c.337T>C | p.Cys113Arg | 4 | 4 (likely pathogenic) | 1 | 0 | chr18:21148926 A>G | rs138795996 | NPC1 | synonymous_variant | c.324T>C | p.Phe108Phe | 4 | 2 (likely benign) | 0 | 1 | chr18:21148952 A>T | | NPC1 | missense_variant | c.298T>A | p.Cys100Ser | 4 | 4 (likely pathogenic) | 1 | 0 | chr18:21148953 G>C | rs142065882 | NPC1 | synonymous_variant | c.297C>G | p.Ser99Ser | 4 | 2 (likely benign) | 0 | 1 | chr18:21148964 TAAAGGA>T | | NPC1 | splice_region_variant&intron_variant | c.288-8_288-3delTCCTTT | | 3 | 3 (unknown significance) | 1 | 0 | chr18:21149012 C>CA | rs771538870 | NPC1 | intron_variant | c.288-51dupT | | 3 | 3 (unknown significance) | 0 | 1 | chr18:21151988 G>C | rs376539562 | NPC1 | intron_variant | c.287+50C>G | | 3 | 3 (unknown significance) | 0 | 1 | chr18:21152019 TTTC>T | rs762368544 | NPC1 | splice_region_variant&intron_variant | c.287+16_287+18delGAA | | 3 | n/a | 0 | 0 | chr18:21152050 T>C | | NPC1 | missense_variant | c.275A>G | p.Gln92Arg | 3 | 3 (unknown significance) | 1 | 0 | chr18:21152052 T>C | rs370718676 | NPC1 | synonymous_variant | c.273A>G | p.Leu91Leu | 3 | 2 (likely benign) | 0 | 1 | chr18:21152087 G>C | | NPC1 | missense_variant | c.238C>G | p.Leu80Val | 3 | 3 (unknown significance) | 1 | 0 | chr18:21152092 C>T | rs373274825 | NPC1 | missense_variant | c.233G>A | p.Arg78Gln | 3 | 2 (likely benign) | 0 | 1 | chr18:21152104 C>T | | NPC1 | missense_variant | c.221G>A | p.Cys74Tyr | 3 | 4 (likely pathogenic) | 1 | 0 | chr18:21152116 T>C | rs200291759 | NPC1 | missense_variant | c.209A>G | p.Asn70Ser | 3 | 2 (likely benign) | 0 | 1 | chr18:21152138 A>G | rs747049347 | NPC1 | missense_variant | c.187T>C | p.Cys63Arg | 3 | 5 (pathogenic) | 3 | 0 | chr18:21152147 T>C | rs371126954 | NPC1 | splice_region_variant&intron_variant | c.181-3A>G | | 2 | 3 (unknown significance) | 0 | 1 | chr18:21152148 T>G | rs374571310 | NPC1 | splice_region_variant&intron_variant | c.181-4A>C | | 2 | 3 (unknown significance) | 0 | 2 | chr18:21152159 A>G | rs375367730 | NPC1 | splice_region_variant&intron_variant | c.181-15T>C | | 2 | 3 (unknown significance) | 0 | 2 | chr18:21152182 CAGTT>C | rs750805309 | NPC1 | intron_variant | c.181-42_181-39delAACT | | 2 | n/a | 0 | 0 | chr18:21152193 A>C | rs370208287 | NPC1 | intron_variant | c.181-49T>G | | 2 | 3 (unknown significance) | 0 | 2 | chr18:21153378 G>A | rs374140883 | NPC1 | intron_variant | c.180+38C>T | | 2 | 3 (unknown significance) | 0 | 1 | chr18:21153416 C>A | rs145666943 | NPC1 | missense_variant&splice_region_variant | c.180G>T | p.Gln60His | 2 | 2 (likely benign) | 0 | 4 | chr18:21153428 A>G | rs368182150 | NPC1 | synonymous_variant | c.168T>C | p.Tyr56Tyr | 2 | 2 (likely benign) | 0 | 1 | chr18:21153469 C>T | rs138277307 | NPC1 | missense_variant | c.127G>A | p.Glu43Lys | 2 | 2 (likely benign) | 0 | 1 | chr18:21153470 G>A | rs149612530 | NPC1 | synonymous_variant | c.126C>T | p.Cys42Cys | 2 | 2 (likely benign) | 0 | 2 | chr18:21153473 ATTGTACCTC>A | | NPC1 | disruptive_inframe_deletion | c.114_122delGAGGTACAA | p.Lys38_Tyr40del | 2 | n/a | 1 | 0 | chr18:21153495 G>A | | NPC1 | missense_variant | c.101C>T | p.Ala34Val | 2 | 3 (unknown significance) | 1 | 0 | chr18:21153501 CCA>C | | NPC1 | frameshift_variant | c.93_94delTG | p.Cys31fs | 2 | 4 (likely pathogenic) | 2 | 0 | chr18:21153523 AG>A | | NPC1 | frameshift_variant | c.72delC | p.Cys25fs | 2 | 4 (likely pathogenic) | 1 | 0 | chr18:21153530 T>C | rs144415945 | NPC1 | synonymous_variant | c.66A>G | p.Ser22Ser | 2 | 1 (benign) | 0 | 10 | chr18:21153536 C>T | rs372042178 | NPC1 | splice_region_variant&synonymous_variant | c.60G>A | p.Val20Val | 2 | 2 (likely benign) | 0 | 1 | chr18:21153541 A>C | | NPC1 | splice_region_variant&intron_variant | c.58-3T>G | | 1 | 5 (pathogenic) | 1 | 0 | chr18:21153543 A>C | rs377124729 | NPC1 | splice_region_variant&intron_variant | c.58-5T>G | | 1 | 3 (unknown significance) | 0 | 1 | chr18:21166249 A>G | | NPC1 | splice_donor_variant&intron_variant | c.57+2T>C | | 1 | n/a | 1 | 0 | chr18:21166301 C>T | rs752896980 | NPC1 | missense_variant | c.7G>A | p.Ala3Thr | 1 | 4 (likely pathogenic) | 2 | 0 |
692 variants (after filtering)
