uniprotkb_accession gene_name protein_name data_source dbsnp_id cosmic_id description cytogenetic_band chromosome_id position ref_allele alt_allele ref_aa alt_aa begin_aa_pos end_aa_pos frequency mutation_type polyphen_score polyphen_prediction sift_score sift_prediction somatic_status disease disease_description disease_xrefs P35475 IDUA Alpha-L-iduronidase cosmic curated,gnomAD rs558683362 COSV56104269 4p16.3 NC_000004.12 1000895 G A M ? 1 1 0.000002054 missense 0.959 probably damaging 0.0 deleterious 1 probably damaging P35475 IDUA Alpha-L-iduronidase cosmic curated COSV99925560 NC_000004.12 1000911 C A H N 7 7 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56103566 NC_000004.12 1000946 T A F L 18 18 missense 1 P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,TOPMed,cosmic curated,dbSNP,gnomAD rs1459786307 COSV108015336 [ClinVar]: Inborn genetic diseases 4p16.3 NC_000004.12 1000959 T G L V 23 23 0.0 missense 0.963 probably damaging 0.0 deleterious 1 probably damaging Inborn genetic diseases P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56107570 NC_000004.12 1000966 C T S F 25 25 missense 1 P35475 IDUA Alpha-L-iduronidase TOPMed,cosmic curated rs1713794298 COSV56105442 4p16.3 NC_000004.12 987184 G A V M 34 34 7.57E-7 missense 0.993 probably damaging 0.0 deleterious 1 probably damaging P35475 IDUA Alpha-L-iduronidase TOPMed,cosmic curated rs1715067539 COSV104372403 4p16.3 NC_000004.12 1001474 A G Y C 35 35 6.85E-7 missense 0.999 probably damaging 0.0 deleterious 1 probably damaging P35475 IDUA Alpha-L-iduronidase TOPMed,cosmic curated rs1416906351 COSV56106044 4p16.3 NC_000004.12 1001473 T C Y H 35 35 missense 0.998 probably damaging 0.0 deleterious 1 probably damaging P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56103860 NC_000004.12 1001539 G C D H 57 57 missense 1 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,cosmic curated,gnomAD rs746908649 COSV108015329 4p16.3 NC_000004.12 1001545 G A V I 59 59 6.84E-7 missense 0.224 benign 0.16 tolerated 1 tolerated P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ExAC,TOPMed,cosmic curated,dbSNP,gnomAD rs763375487 COSV56107157 [ClinVar]: Mucopolysaccharidosis, MPS-I-S,[ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1001689 C G N K 68 68 0.000020 missense 0.868 possibly damaging 0.03 deleterious 1 possibly damaging Hurler syndrome P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,Ensembl,cosmic curated,dbSNP rs2153021978 COSV56107272 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1001697 A G D G 71 71 0.000001381 missense 0.994 probably damaging 0.0 deleterious 1 probably damaging Mucopolysaccharidosis type 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56104146 NC_000004.12 1001709 A G E G 75 75 missense 1 P35475 IDUA Alpha-L-iduronidase TOPMed,cosmic curated,gnomAD rs992408218 COSV56104879 4p16.3 NC_000004.12 1001717 C T R C 78 78 6.91E-7 missense 0.969 probably damaging 0.0 deleterious 1 probably damaging P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,TOPMed,cosmic curated,dbSNP,gnomAD rs1178237301 COSV105062180 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1001738 C T R W 85 85 0.000010 missense 0.937 probably damaging 0.01 deleterious 1 probably damaging Mucopolysaccharidosis type 1 P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,NCI-TCGA Cosmic,TOPMed,UniProt,dbSNP,gnomAD rs121965029 COSV99926580 [UniProt]: MPS1S,[ClinVar]: Hurler syndrome,[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.,[ClinVar]: Mucopolysaccharidosis type 1,[ClinVar]: Mucopolysaccharidosis, MPS-I-S,[ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 NC_000004.12 987916 G A R Q 89 89 0.000009155 missense 0 Fibromatous Neoplasms P35475 IDUA Alpha-L-iduronidase cosmic curated COSV106326613 NC_000004.12 1001750 C T P S 89 89 missense 1 P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,TOPMed,dbSNP,gnomAD rs1258131965 COSV99926548 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 987933 G A E K 95 95 missense 0.528 possibly damaging 0.01 deleterious 0 possibly damaging Squamous Cell Neoplasms P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,cosmic curated,gnomAD rs760900176 COSV56102880 4p16.3 NC_000004.12 1001775 C T P L 97 97 0.00000138 missense 0.49 possibly damaging 0.02 deleterious 1 possibly damaging P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ExAC,NCI-TCGA Cosmic,TOPMed,dbSNP,gnomAD rs779553529 COSV56103555 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.,[ClinVar]: Mucopolysaccharidosis type 1,[ClinVar]: Inborn genetic diseases 4p16.3 NC_000004.12 1000625 C T R W 105 105 0.00002397 missense 0.003 benign 0.11 tolerated 0 tolerated Inborn genetic diseases P35475 IDUA Alpha-L-iduronidase TOPMed,cosmic curated rs1715097037 COSV56105564 4p16.3 NC_000004.12 1001811 G A C Y 109 109 missense 1.0 probably damaging 0.0 deleterious 1 probably damaging P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56103175 NC_000004.12 1001833 C G F L 116 116 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56101631 NC_000004.12 1001849 G T V L 122 122 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV105854415 NC_000004.12 1001849 G A V M 122 122 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56102832 NC_000004.12 1001864 A G I V 127 127 missense 1 P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,TOPMed,cosmic curated,dbSNP,gnomAD rs990612149 COSV56104924 4p16.3 NC_000004.12 1001877 G A R K 131 131 0.000010 missense 0.001 benign 1.0 tolerated 1 tolerated P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56103731 NC_000004.12 1001877 G T R M 131 131 missense 1 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ClinGen,ClinVar,ESP,ExAC,TOPMed,cosmic curated,dbSNP,gnomAD rs112571714 COSV99925775 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.,[ClinVar]: Mucopolysaccharidosis type 1,[ClinVar]: Inborn genetic diseases 4p16.3 NC_000004.12 1000902 G A A T 136 136 0.0001039 missense 0.085 benign 0.01 deleterious 1 deleterious Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV56102067 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1000916 C A F L 140 140 missense 0.984 probably damaging 0.0 deleterious 1 probably damaging Epithelial Neoplasms, NOS P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV99925805 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1000930 A G D G 145 145 missense 0.97 probably damaging 0.01 deleterious 1 probably damaging Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase cosmic curated COSV107213732 NC_000004.12 1002019 A G K R 145 145 missense 1 P35475 IDUA Alpha-L-iduronidase Ensembl,cosmic curated rs1715115080 COSV56106164 4p16.3 NC_000004.12 1002028 C T A V 148 148 0.000002075 missense 0.003 benign 1.0 tolerated 1 tolerated P35475 IDUA Alpha-L-iduronidase cosmic curated COSV99926320 NC_000004.12 1002052 C A P H 156 156 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56106420 NC_000004.12 1002066 A C T P 161 161 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV99070849 NC_000004.12 1002084 G C E Q 167 167 missense 1 P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV99925757 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1001477 G A G E 168 168 missense 1.0 probably damaging 0.0 deleterious 1 probably damaging Nevi and Melanomas P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ExAC,NCI-TCGA Cosmic,TOPMed,cosmic curated,dbSNP,gnomAD rs764394402 COSV56107079 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.,[ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1001483 C T A V 170 170 0.00001196 missense 0.131 benign 0.25 tolerated 1 tolerated Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated,dbSNP,gnomAD rs1181224287 COSV99925818 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1001492 C T S F 173 173 missense 0.975 probably damaging 0.0 deleterious 1 probably damaging Nevi and Melanomas P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,Ensembl,NCI-TCGA Cosmic,cosmic curated,dbSNP rs875989946 COSV99926077 [ClinVar]: Hurler syndrome,[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.,[ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1001497 T C W R 175 175 missense 1.0 probably damaging 0.0 deleterious 1 probably damaging Hurler syndrome P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,NCI-TCGA Cosmic,TOPMed,UniProt,cosmic curated,dbSNP,gnomAD rs992336192 COSV56103464 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.,[UniProt]: MPS1H/S,[ClinVar]: Mucopolysaccharidosis type 1,[ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 NC_000004.12 1001506 G A E K 178 178 6.84E-7 missense 1 Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ExAC,NCI-TCGA Cosmic,TOPMed,cosmic curated,dbSNP,gnomAD rs776098539 COSV99926122 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.,[ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1001510 C T T M 179 179 0.00003586 missense 0.993 probably damaging 0.0 deleterious 1 probably damaging Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ExAC,cosmic curated,dbSNP,gnomAD rs755445369 COSV56101172 [ClinVar]: Hurler syndrome 4p16.3 NC_000004.12 1002135 G A V M 184 184 0.000040 missense 0.944 probably damaging 0.0 deleterious 1 probably damaging Hurler syndrome P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ExAC,TOPMed,cosmic curated,dbSNP,gnomAD rs781534097 COSV56101872 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1002145 C T A V 187 187 0.0 missense 0.999 probably damaging 0.0 deleterious 1 probably damaging Mucopolysaccharidosis type 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV99925607 NC_000004.12 1002275 G A A T 195 195 missense 1 P35475 IDUA Alpha-L-iduronidase Ensembl,cosmic curated rs2153022317 COSV56101466 4p16.3 NC_000004.12 1002276 C T A V 195 195 0.000004113 missense 0.096 benign 0.21 tolerated 1 tolerated P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,TOPMed,UniProt,cosmic curated,dbSNP,gnomAD rs1430681871 COSV56102257 [ClinVar]: Hurler syndrome,[UniProt]: MPS1H,[ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1001712 G A G D 208 208 0.000010 missense 1 Hurler syndrome P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ESP,ExAC,TOPMed,cosmic curated,dbSNP,gnomAD rs371021597 COSV99926270 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1002321 C A P H 210 210 0.000010 missense 0.113 benign 0.03 deleterious 1 deleterious Mucopolysaccharidosis type 1 P35475 IDUA Alpha-L-iduronidase cosmic curated,gnomAD rs1462289312 COSV108015338 4p16.3 NC_000004.12 1002320 C T P S 210 210 0.000002054 missense 0.003 benign 0.04 deleterious 1 deleterious P35475 IDUA Alpha-L-iduronidase 1000Genomes,ClinGen,ClinVar,ExAC,TOPMed,cosmic curated,dbSNP,gnomAD rs202191662 COSV56105863 [ClinVar]: Mucopolysaccharidosis type 1,[ClinVar]: Inborn genetic diseases 4p16.3 NC_000004.12 1002327 C G A G 212 212 0.00060 missense 0.003 benign 0.01 deleterious 1 deleterious Inborn genetic diseases P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ExAC,NCI-TCGA,TOPMed,cosmic curated,dbSNP,gnomAD rs754095810 COSV56101616 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.,[ClinVar]: Inborn genetic diseases 4p16.3 NC_000004.12 1001723 G A A T 212 212 0.000040 missense 0.999 probably damaging 0.01 deleterious 1 probably damaging Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ExAC,cosmic curated,dbSNP,gnomAD rs772448566 COSV56104905 4p16.3 NC_000004.12 1002350 T C F L 220 220 0.000010 missense 0.965 probably damaging 0.0 deleterious 1 probably damaging P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56102502 NC_000004.12 1002365 C G P A 225 225 missense 1 P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV99926431 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1001769 C G T S 227 227 missense 0.009 benign 0.34 tolerated 1 tolerated Squamous Cell Neoplasms P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,Ensembl,NCI-TCGA Cosmic,cosmic curated,dbSNP rs1715144653 COSV56104739 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 4p16.3 NC_000004.12 1001777 C T R * 230 230 missense 1 Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,Ensembl,cosmic curated,dbSNP rs121965032 COSV108015326 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1002387 C A T K 232 232 missense 0.988 probably damaging 0.0 deleterious 1 probably damaging Mucopolysaccharidosis type 1 P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV56102765 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1001804 C T R C 239 239 missense 0.007 benign 0.12 tolerated 1 tolerated Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase ExAC,cosmic curated,gnomAD rs775816150 COSV56101301 4p16.3 NC_000004.12 1002416 A C T P 242 242 missense 0.996 probably damaging 0.0 deleterious 1 probably damaging P35475 IDUA Alpha-L-iduronidase ExAC,cosmic curated,gnomAD rs765432091 COSV56102022 4p16.3 NC_000004.12 1002429 A G H R 246 246 7.05E-7 missense 0.619 possibly damaging 0.0 deleterious 1 possibly damaging P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,TOPMed,cosmic curated,dbSNP,gnomAD rs983573900 COSV56101605 [ClinVar]: Inborn genetic diseases 4p16.3 NC_000004.12 1002471 T A L Q 260 260 0.000010 missense 0.991 probably damaging 0.0 deleterious 1 probably damaging Inborn genetic diseases P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV56107309 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1002027 G A A T 280 280 missense 0.129 benign 0.01 deleterious 1 deleterious Cystic, Mucinous and Serous Neoplasms P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV56101391 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1002031 A C Q P 281 281 missense 0.366 benign 0.13 tolerated 1 tolerated Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase TOPMed,cosmic curated,gnomAD rs1464048268 COSV56102818 4p16.3 NC_000004.12 1002792 C T T M 285 285 0.000001519 missense 0.265 benign 0.03 deleterious 1 deleterious P35475 IDUA Alpha-L-iduronidase cosmic curated COSV104558262 NC_000004.12 1002806 G A A T 290 290 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV105062214 NC_000004.12 1002821 C T P S 295 295 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated,gnomAD rs1259428940 COSV105854449 4p16.3 NC_000004.12 1002851 G A A T 305 305 missense 0.007 benign 1.0 tolerated 1 tolerated P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,NCI-TCGA Cosmic,cosmic curated,dbSNP,gnomAD rs1170717159 COSV99926476 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.,[ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1002139 C T T I 317 317 0.000010 missense 0.989 probably damaging 0.06 tolerated 1 probably damaging Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56102441 NC_000004.12 1002897 G A R H 320 320 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV99926646 NC_000004.12 1002924 G A R H 329 329 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV106326666 NC_000004.12 1003053 C A R S 342 342 missense 1 P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV99925725 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1002327 C T A V 344 344 missense 0.003 benign 0.15 tolerated 1 tolerated Squamous Cell Neoplasms P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ESP,ExAC,TOPMed,UniProt,cosmic curated,dbSNP,gnomAD rs368454909 COSV56103314 [UniProt]: MPS1H,[ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1002341 G A D N 349 349 0.000010 missense 1 Mucopolysaccharidosis 1H (MPS1H) P35475 IDUA Alpha-L-iduronidase cosmic curated COSV99925721 NC_000004.12 1003083 G A D N 352 352 missense 1 P35475 IDUA Alpha-L-iduronidase Ensembl,cosmic curated rs1715210435 COSV107213738 4p16.3 NC_000004.12 1003094 G T W C 355 355 missense 0.811 possibly damaging 0.0 deleterious 1 possibly damaging P35475 IDUA Alpha-L-iduronidase 1000Genomes,ClinGen,ClinVar,ESP,ExAC,TOPMed,UniProt,cosmic curated,dbSNP,gnomAD rs6831280 COSV56101293 [ClinVar]: Hurler syndrome,[ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1002377 G A A T 361 361 0.21765 missense 1 Hurler syndrome P35475 IDUA Alpha-L-iduronidase cosmic curated COSV108749089 NC_000004.12 1003122 A C T P 365 365 missense 1 P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ExAC,NCI-TCGA Cosmic,TOPMed,cosmic curated,dbSNP,gnomAD rs754681846 COSV56102568 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1002398 C T R C 368 368 0.000010 missense 0.485 possibly damaging 0.0 deleterious 1 possibly damaging Lymphoid Leukemias P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV99926027 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1002404 C A Q K 370 370 missense 0.874 possibly damaging 0.0 deleterious 1 possibly damaging Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase cosmic curated COSV105062120 NC_000004.12 1003144 T G M R 372 372 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56101585 NC_000004.12 1003147 G A R H 373 373 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56104606 NC_000004.12 1003361 C T A V 382 382 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV106326648 NC_000004.12 1003385 G A G D 390 390 missense 1 P35475 IDUA Alpha-L-iduronidase TOPMed,cosmic curated rs1715240366 COSV105062216 4p16.3 NC_000004.12 1003403 C T P L 396 396 missense 0.01 benign 0.75 tolerated 1 tolerated P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56101906 NC_000004.12 1003411 C T R W 399 399 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56102106 NC_000004.12 1003426 T A L M 404 404 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56103705 NC_000004.12 1003442 G A C Y 409 409 missense 1 P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV56105679 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1002779 G A D N 413 413 missense 0.419 benign 0.15 tolerated 1 tolerated Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56101428 NC_000004.12 1003463-1003464 CC AA P Q 416 416 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56101236 NC_000004.12 1003582 G T G W 430 430 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV109560479 NC_000004.12 1003610 A C E A 439 439 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated,gnomAD rs1417716357 COSV99925949 4p16.3 NC_000004.12 1003618 G T G C 442 442 6.85E-7 missense 0.757 possibly damaging 0.04 deleterious 1 possibly damaging P35475 IDUA Alpha-L-iduronidase cosmic curated COSV105062211 NC_000004.12 1004021 G A W * 447 447 missense 1 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ClinGen,ClinVar,ExAC,TOPMed,UniProt,cosmic curated,dbSNP,gnomAD rs532731688 COSV56107221 [ClinVar]: IDUA-related disorder,[ClinVar]: Mucopolysaccharidosis type 1,[ClinVar]: Inborn genetic diseases 4p16.3 NC_000004.12 1002887 C A H N 449 449 0.00020 missense 1 IDUA-related disorder P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ExAC,TOPMed,cosmic curated,dbSNP,gnomAD rs762037549 COSV56101247 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1004028 G A E K 450 450 0.000010 missense 0.931 probably damaging 0.02 deleterious 1 probably damaging Mucopolysaccharidosis type 1 P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV99925829 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1002903 T G V G 454 454 missense 0.067 benign 0.41 tolerated 1 tolerated Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase 1000Genomes,ClinGen,ClinVar,ExAC,TOPMed,UniProt,cosmic curated,dbSNP,gnomAD rs73066479 COSV107213736 [ClinVar]: Hurler syndrome,[ClinVar]: Mucopolysaccharidosis, MPS-I-S,[ClinVar]: Mucopolysaccharidosis type 1,[ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 NC_000004.12 1002902 G A V I 454 454 0.21865 missense 1 Hurler syndrome P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56106012 NC_000004.12 1004043 C T Q * 455 455 missense 1 P35475 IDUA Alpha-L-iduronidase TOPMed,cosmic curated,gnomAD rs1358182793 COSV105062187 4p16.3 NC_000004.12 1004049-1004050 GG AT G I 457 457 8.13E-7 missense 0.027 benign 0.05 deleterious 1 deleterious P35475 IDUA Alpha-L-iduronidase 1000Genomes,cosmic curated rs2153023180 COSV99926183 4p16.3 NC_000004.12 1004052 A G K E 458 458 missense 0.001 benign 0.61 tolerated 1 tolerated P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56102190 NC_000004.12 1004056 C A A E 459 459 missense 1 P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ESP,ExAC,TOPMed,cosmic curated,dbSNP,gnomAD rs143621769 COSV56106439 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1004065 C T P L 462 462 0.00011 missense 0.001 benign 0.12 tolerated 1 tolerated Mucopolysaccharidosis type 1 P35475 IDUA Alpha-L-iduronidase Ensembl,cosmic curated rs2153023199 COSV56101736 4p16.3 NC_000004.12 1004077 A C K T 466 466 missense 0.204 benign 0.11 tolerated 1 tolerated P35475 IDUA Alpha-L-iduronidase cosmic curated,gnomAD rs867456178 COSV56105366 4p16.3 NC_000004.12 1004083 C T S L 468 468 0.000001369 missense 0.012 benign 0.14 tolerated 1 tolerated P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV56107098 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1003054 G A R H 474 474 missense 0.003 benign 0.16 tolerated 1 tolerated Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56102625 NC_000004.12 1004110-1004111> CT D * 478 478 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV105062213 NC_000004.12 1004269 C G A G 481 481 missense 1 P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,NCI-TCGA Cosmic,cosmic curated,dbSNP,gnomAD rs1356329915 COSV99925632 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact.,[ClinVar]: Hurler syndrome,[ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1003089 G T E * 486 486 0.000006502 missense 1 Hurler syndrome P35475 IDUA Alpha-L-iduronidase cosmic curated COSV106052724 NC_000004.12 1004283 T Y TFS*? 486 486 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV106052725 NC_000004.12 1004287 G C R P 487 487 missense 1 P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ESP,ExAC,TOPMed,cosmic curated,dbSNP,gnomAD rs121965025 COSV56102412 [ClinVar]: Hurler syndrome,[ClinVar]: Mucopolysaccharidosis type 1,[ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 NC_000004.12 1004292 C T R * 489 489 0.000013709 missense 1 Hurler syndrome P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated,dbSNP,gnomAD rs1375839111 COSV56107118 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1003098 C T R C 489 489 missense 0.862 possibly damaging 0.02 deleterious 1 possibly damaging Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase ESP,TOPMed,cosmic curated,gnomAD rs375422485 COSV105854430 4p16.3 NC_000004.12 1004296 C T A V 490 490 0.000002741 missense 0.809 possibly damaging 0.03 deleterious 1 possibly damaging P35475 IDUA Alpha-L-iduronidase Ensembl,cosmic curated rs1715311906 COSV56102269 4p16.3 NC_000004.12 1004301 G A D N 492 492 0.000001371 missense 0.767 possibly damaging 0.04 deleterious 1 possibly damaging P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,cosmic curated,dbSNP,gnomAD rs1456090810 COSV56101536 [ClinVar]: Mucopolysaccharidosis type 1,[ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 NC_000004.12 1004308 G A W * 494 494 0.0 missense 1 Hurler syndrome P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56103491 NC_000004.12 1004309 G T W C 494 494 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56106317 NC_000004.12 1004323 C T P L 499 499 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56104867 NC_000004.12 1004337 G V CFS*? 504 504 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56106695 NC_000004.12 1004346 C L WFS*? 507 507 missense 1 P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,Ensembl,cosmic curated,dbSNP rs1553917764 COSV99925933 [ClinVar]: Hurler syndrome 4p16.3 NC_000004.12 1004349 G T E * 508 508 missense 1 Hurler syndrome P35475 IDUA Alpha-L-iduronidase cosmic curated COSV99925788 NC_000004.12 1004356 C A P H 510 510 missense 1 P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,TOPMed,cosmic curated,dbSNP,gnomAD rs1379718691 COSV56105997 [ClinVar]: Inborn genetic diseases 4p16.3 NC_000004.12 1004355 C T P S 510 510 0.00000137 missense 0.0 unknown 0.08 tolerated - low confidence 1 unknown Inborn genetic diseases P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56101154 NC_000004.12 1004358 G A V M 511 511 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated,gnomAD rs1445443102 COSV108749090 4p16.3 NC_000004.12 1004370 C T P S 515 515 6.86E-7 missense 0.0 unknown 0.19 tolerated - low confidence 1 unknown P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56101929 NC_000004.12 1004374 C P HFS*? 516 516 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56107496 NC_000004.12 1004380 C G P R 518 518 missense 1 P35475 IDUA Alpha-L-iduronidase cosmic curated COSV56101675 NC_000004.12 1004389 C T P L 521 521 missense 1 P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,NCI-TCGA Cosmic,TOPMed,cosmic curated,dbSNP,gnomAD rs920228043 COSV56105224 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.,[ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1003412 G A R Q 531 531 0.000020 missense 0.24 benign 0.31 tolerated 1 tolerated Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,ExAC,NCI-TCGA Cosmic,TOPMed,cosmic curated,dbSNP,gnomAD rs752800292 COSV99925975 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact.,[ClinVar]: Mucopolysaccharidosis type 1 4p16.3 NC_000004.12 1003579 C T Q * 561 561 missense 1 Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic COSV56106012 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1004043 C G Q E 587 587 missense 0.0 benign 0.82 tolerated 1 tolerated Ductal and Lobular Neoplasms P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV99925760 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1004075 G C R S 597 597 missense 0.014 benign 0.71 tolerated 1 tolerated Nevi and Melanomas P35475 IDUA Alpha-L-iduronidase Ensembl,NCI-TCGA Cosmic,cosmic curated,dbSNP rs780813368 COSV56103610 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1004269 C T A V 613 613 0.000004801 missense 0.0 benign 0.37 tolerated 1 tolerated Adenomas and Adenocarcinomas P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV99925926 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1004322 C T P S 631 631 missense 0.05 benign 0.66 tolerated 1 tolerated Fibromatous Neoplasms P35475 IDUA Alpha-L-iduronidase ClinGen,ClinVar,NCI-TCGA Cosmic,cosmic curated,dbSNP,gnomAD rs886043347 COSV56102323 [ClinVar]: Hurler syndrome,[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.,[ClinVar]: Mucopolysaccharidosis, MPS-I-S,[ClinVar]: Mucopolysaccharidosis type 1,[ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 NC_000004.12 1004329 C T S L 633 633 0.00001205 missense 0.998 probably damaging 0.0 deleterious 1 probably damaging Hurler syndrome P35475 IDUA Alpha-L-iduronidase NCI-TCGA Cosmic,cosmic curated COSV56104867 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 NC_000004.12 1004337 G T V L 636 636 missense 0.038 benign 0.1 tolerated 1 tolerated Squamous Cell Neoplasms