Supplementary materials and methods

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Rosamund Walton
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1 Supplementary materials and methods Targeted resequencing RNA probes complementary in sequence to the coding exons (+ 2bp) of target genes were designed using e-array ( and manufactured as part of custom SureSelect kits (Agilent Santa Clara CA). A tiling frequency of 2x was selected during kit design and small target intervals were extended such that all intervals were targeted by at least 2 distinct probes. Paired end Illumina sequencing libraries were prepared for 444 cases and 3 controls using DNA extracted from venous blood (KBioscience Herts England). Libraries were subsequently enriched for target sequences using the custom SureSelect kits. Library preparation and target enrichment was performed as per the SureSelect Target Enrichment System for Illumina Paired-End Sequencing Library protocol version 2.3 protocol with the following modifications. ) Only µg of DNA was used in library preparations. 2) DNA fragmentation was performed either using a Covaris system (Covaris Woburn MA) as per the manufacturer's instructions enzymatically or through sonication. Where enzymatic fragmentation was performed 5.8 µl of DNA (63.3 ng/µl) was incubated with 2 µl NEBNext dsdna fragmentase (New England Biolabs Ipswich MA) in NEBNext fragmentase reaction 3 C for 2 min. 5 µl of.5 M EDTA was then used to stop the reaction. Where fragmentation was performed through sonication µl of DNA ( ng/µl) was subjected to 6 min of sonication (3 sec on 3 sec off) using a Bioruptor (Diagenode Liège Belgium) at low power. 3) Extended Illumina adapters including 6 bp indexes were used in place of standard adapters (Metabion Martinsried Germany). All indexes were at least an edit distance of 2 from one another. 4) Following adapter ligation libraries were subjected to electrophoresis through a 2% Low Range Ultra agarose gel (BioRad Hercules CA) stained with SYBR Green nucleic acid gel stain (Sigma Arklow Ireland) for 9 4 V. Fragments of 3 4 bp were manually

2 excised from gel using a Safe Imager 2. Blue Light Transilluminator (Invitrogen Carlsbad CA) for visualization. DNA was extracted from gel slices using QIAquick Gel Extraction Kits (Qiagen West Sussex UK) as per the manufacturer's instructions. 5) 5 cycles of PCR were performed instead of 4 prior to target enrichment and Phusion (New England Biolabs) was used for all PCR reactions. 6) Libraries labelled with distinct indexes were pooled prior to target enrichment such that the expected sequence coverage of target intervals would have a mean of ~ 3x per sample. 23 case libraries were resequenced by 8 bp paired-end resequencing on an Illumina Genome Analyzer II at TrinSeq Institute of Molecular Medicine Trinity College Dublin Ireland. The remainder of libraries were resequenced by bp single-end sequencing on a HiSeq 2 at GATC Biotech AG Konstanz Switzerland. Analysis of sequence data Sequencing reads were aligned using BWA to build GRCh37 of the human genome ( ). Alignments were annotated with sample of origin based on detected adapter indexes. SAMtools was used to sort and index alignment files. Picard was used to merge alignment files and remove PCR duplicates. The GATK was used to perform local indel realignment recalibrate base quality (BQ) scores determine per sample depth of coverage across target intervals call variants and assign sample genotypes. Base calls were only considered for depth of coverage analyses or variant calling when they were associated with BQ scores >= 2 and alignment mapping quality scores >=2. Variant annotation and quality control

3 The effects of variants at the protein level were predicted using Variant Effect Predictor version 2.7 ( and Ensembl 69 ( Predictions were based only on transcripts annotated as protein coding and included PolyPhen and SIFT pathogenicity classifications. Genotype frequencies within external control cohorts were imported from the March 22 release of the genomes project ( and the ESP65 release of the NHLBI exome sequencing project (Exome Variant Server NHLBI Exome Sequencing Project (ESP) Seattle WA (URL: [Accessed 22 Jul 8]). Variants were assigned a status of either pass or fail based on whether they met a series of quality control criteria. These criteria included a minimum variant quality score of 3 a genotype call rate >% and QD FS ReadPosRankSum and HaplotypeScore values within the range observed for the subset of variants noted also to have been reported by the genomes or NHLBI Exome Sequencing projects. Additionally novel case variants which were observed to occur only in cis with other novel case variants were interpreted as possible misalignments and assigned a status of fail. Variant quality score QD FS ReadPosRankSum and HaplotypeScore values were calculated using the GATK. Genotype calls associated with genotype quality scores <5 were reset to missing prior to variant quality control. Estimation of variant detection power For each target position per sample sequence coverage was used to calculate the expected total of resequenced chromosomes. The probability of including a mutated chromosome among this total was then calculated for a range of minor allele frequencies using R version 2.4. ( Both the sampling of patients from the Irish ALS population and the sampling of chromosomes during resequencing were assumed to follow binomial distributions.

9 Figure S: Variant detection power The horizontal axes denote position within the coding sequence of each target gene. The vertical axes denote the probability that a variant with an allele frequency of 5% (blue line).5% (yellow line) or.% (red line) among Irish ALS patients was sampled during resequencing. The coding sequence of a target gene refers to the union of all coding transcripts reported in Ensembl 69. Exon boundaries are demarcated by vertical dotted lines.

10 Table S: Target gene resequencing Gene Designation % Sequenced (>= X coverage) Mean Case Coverage ALS2 Mendelian ANG Mendelian ATXN2 Low penetrance/ tenative C9orf72 Mendelian CHMP2B Low penetrance/ tenative DCTN Low penetrance/ tenative DPP6 Low penetrance/ tenative ELP3 Low penetrance/ tenative FGGY Low penetrance/ tenative FIG4 Low penetrance/ tenative FUS Mendelian GRN Low penetrance/ tenative HFE Low penetrance/ tenative IFNK Low penetrance/ tenative ITPR2 Low penetrance/ tenative MAPT Low penetrance/ tenative MOB3B Low penetrance/ tenative NEFH Low penetrance/ tenative NIPA Low penetrance/ tenative OPTN Mendelian PARK7 Low penetrance/ tenative PON Low penetrance/ tenative

11 PON2 Low penetrance/ tenative PON3 Low penetrance/ tenative PRPH Low penetrance/ tenative Mendelian SIGMAR Low penetrance/ tenative SOD Mendelian SPG Low penetrance/ tenative TARDBP Mendelian UNC3A Low penetrance/ tenative VAPB Mendelian VCP Mendelian

12 Table S2: ALS gene variants Gene ALS2 Class Transcript DNA Amino.Acid SIFT *ENST ENST c.2g>a c.2g>a p.val368met p.val368met Poly Phen fals sals Irish European Global ALS2 splice region *ENST c.5c>g p.pro372arg ALS2 *ENST c.226c>g p.ala49gly ALS2 *ENST c.265t>c p.met422thr ALS2 *ENST c.283c>a p.thr428asn ALS2 *ENST c.627g>a p.asp543asn ALS2 splice region *ENST c.64g>a ALS2 *ENST c.228a>g ALS2 *ENST c.298a>g p.thr7ala ENST c.34a>g p.thr2ala ALS2 *ENST c.255c>t p.pro79ser ENST c.9c>t p.pro3ser ALS2 *ENST c.226c>t p.ala739val ENST c.52c>t p.ala5val ALS2 *ENST c.224c>t ENST c.77c>t ALS2 *ENST c.248a>g p.lys83arg ENST c.344a>g p.lys5arg ALS2 *ENST c.2466g>a ENST c.42g>a ALS2 *ENST c.2566a>g p.thr856ala ENST c.52a>g p.thr68ala ALS2 *ENST c.266a>c p.gln869pro ENST c.542a>c p.gln8pro ALS2 *ENST c.2796c>t ENST c.732c>t ALS2 *ENST c.28a>g p.ile94val ENST c.28a>g p.ile94val

13 ENST49632 ENST452 c.28a>g c.28a>g p.ile94val p.ile94val ALS2 *ENST c.2992c>a ENST c.928c>a ALS2 *ENST c.346c>g p.pro6ala ENST c.982c>g p.pro328ala ALS2 *ENST c.394c>t p.arg32cys ENST c.3c>t p.arg344cys ALS2 *ENST c.329c>g ENST c.65c>g ALS2 splice donor c.382+2t >G *ENST >G ENST c.8+2t ALS2 *ENST c.325t>g p.tyr84asp splice region ENST c.86t>g p.tyr396asp ALS2 *ENST c.337c>a p.his3asn ENST c.243c>a p.his45asn ALS2 *ENST c.374t>g ALS2 *ENST c.3863c>t p.pro288leu ALS2 *ENST c.3885g>a ALS2 *ENST c.45c>t ALS2 *ENST c.47g>a ALS2 *ENST c.49a>g p.ile373met ALS2 *ENST c.435c>a p.pro379thr ALS2 *ENST c.4382g>a p.arg46gln ALS2 *ENST c.464g>a ALS2 *ENST c.4957c>t p.arg653cys ANG *ENST3368 c.22a>t p.lys4ile ENST39799 c.22a>t p.lys4ile ANG *ENST3368 c.28a>g p.ile7val ENST39799 c.28a>g p.ile7val ANG *ENST3368 c.33t>g ENST39799 c.33t>g ANG *ENST3368 c.363a>t

14 ATXN2 ATXN2 ATXN2 ATXN2 ATXN2 ATXN2 splice region ENST39799 *ENST37767 ENST ENST554 ENST ENST47866 ENST38953 ENST *ENST37767 ENST ENST554 ENST ENST38953 *ENST37767 ENST ENST554 ENST38953 ENST38954 ENST ENST *ENST37767 ENST554 *ENST37767 ENST55844 ENST38954 ENST ENST38953 *ENST37767 ENST ENST55844 ENST ENST38954 ENST38953 ENST ENST55889 c.363a>t c.23g>a c.256g>a c.23g>a c.328g>a c.5g>a c.328g>a c.352g>a c.472a>g c.65a>g c.472a>g c.677a>g c.677a>g c.3a>g c.225a>g c.2939a>g c.22a>g c.65a>g c.233a>g c.57a>g c.39c>g c.39c>g c.3322c>t c.97c>t c.487c>t c.2527c>t c.2533c>t c.34c>t c.249c>t c.86c>t c.266c>t c.576c>t c.2622c>t c.44c>t c.65c>t p.asp375asn p.asp86asn p.asp375asn p.aspasn p.asp5asn p.aspasn p.asp8asn p.asn49ser p.asn22ser p.asn49ser p.asn226ser p.asn226ser p.tyr98cys p.leu7val p.leu7val p.pro8ser p.pro33ser p.pro63ser p.pro843ser p.pro845ser p.thr22met

15 ATXN2 ATXN2 *ENST37767 ENST55844 ENST38954 ENST ENST55889 ENST38953 ENST ENST *ENST37767 ENST38954 ENST55844 ENST ENST38953 ENST ENST *ENST37767 ENST554 c.349g>a c.266g>a c.656g>a c.494g>a c.45g>a c.272g>a c.257g>a c.2696g>a c.378g>a c.873g>a c.483g>a c.293g>a c.299g>a c.2787g>a c.7g>a c.743g>a c.743g>a p.ser64asn p.ser89asn p.ser29asn p.ser65asn p.val49ile p.ser9asn p.ser857asn p.ser899asn ATXN2 p.ser248asn p.ser248asn C9orf72 *ENST383 c.275g>a C9orf72 *ENST383 c.44c>t C9orf72 *ENST383 c.62a>g p.asn27ser ENST c.62a>g p.asn27ser ENST c.62a>g p.asn27ser C9orf72 *ENST383 c.87c>t CHMP2 *ENST26378 c.8a>g p.lys4glu B ENST49498 c.8a>g p.lys4glu CHMP2 *ENST26378 c.23g>t p.gln4his B ENST49498 c.23g>t p.gln4his CHMP2 *ENST26378 c.27c>t B ENST49498 c.27c>t CHMP2 *ENST26378 c.32t>c B ENST4766 c.89t>c *ENST26378 c.372a>c CHMP2 ENST4766 c.249a>c B ENST49498 c.282a>c DCTN *ENST36874 c.59c>t

16 DCTN DCTN DCTN DCTN ENST3943 ENST49438 ENST49567 ENST49868 ENST47639 ENST4924 *ENST36874 ENST49567 ENST47639 ENST49438 ENST4924 ENST3943 ENST49868 *ENST36874 ENST49438 ENST3943 ENST47639 ENST49567 ENST4924 ENST49868 *ENST36874 ENST49868 ENST49567 ENST4924 ENST3943 ENST49438 ENST47639 *ENST36874 ENST49868 c.38c>t c.657c>t c.999c>t c.8c>t c.657c>t c.948c>t c.6g>a c.g>a c.658g>a c.658g>a c.949g>a c.39g>a c.9g>a c.23c>a c.829c>a c.2c>a c.829c>a c.7c>a c.2c>a c.8c>a c.48g>a c.429g>a c.42g>a c.369g>a c.459g>a c.78g>a c.78g>a c.484g>a c.433g>a p.ala354thr p.ala334thr p.ala22thr p.ala22thr p.ala37thr p.ala347thr p.ala337thr p.arg4ser p.arg277ser p.arg44ser p.arg277ser p.arg39ser p.arg374ser p.arg394ser p.ala494thr p.ala477thr p.ala474thr p.ala457thr p.ala487thr p.ala36thr p.ala36thr p.arg495gln p.arg478gln

17 DCTN DCTN DCTN DCTN DCTN ENST49567 ENST3943 ENST4924 ENST47639 ENST49438 *ENST36874 ENST3943 ENST49868 ENST49567 ENST47639 ENST4924 ENST49438 *ENST36874 ENST49567 ENST4924 ENST47639 ENST49438 ENST49868 ENST3943 *ENST36874 ENST47639 ENST49438 ENST49868 ENST49567 ENST3943 ENST4924 *ENST36874 ENST49438 ENST47639 ENST3943 ENST4924 ENST49868 ENST49567 *ENST36874 ENST49438 c.424g>a c.463g>a c.373g>a c.82g>a c.82g>a c.29c>t c.998c>t c.968c>t c.959c>t c.67c>t c.98c>t c.67c>t c.229g>c c.249g>c c.298g>c c.87g>c c.87g>c c.258g>c c.288g>c c.2339t>c c.937t>c c.937t>c c.2288t>c c.2279t>c c.238t>c c.2228t>c c.2353c>t c.95c>t c.95c>t c.2332c>t c.2242c>t c.232c>t c.2293c>t c.2448a>g c.246a>g p.arg475gln p.arg488gln p.arg458gln p.arg36gln p.arg36gln p.glu737gln p.glu77gln p.glu7gln p.glu63gln p.glu63gln p.glu72gln p.glu73gln p.ile78thr p.ile646thr p.ile646thr p.ile763thr p.ile76thr p.ile773thr p.ile743thr p.arg785trp p.arg65trp p.arg65trp p.arg778trp p.arg748trp p.arg768trp p.arg765trp

18 DCTN DCTN DCTN DCTN splice acceptor ENST49868 ENST47639 ENST4924 ENST3943 ENST49567 *ENST36874 ENST49438 ENST47639 ENST4924 ENST3943 ENST49868 ENST49567 *ENST36874 ENST4924 ENST47639 ENST49567 ENST49868 ENST3943 ENST49438 *ENST36874 ENST49868 ENST49567 ENST3943 ENST49438 ENST47639 ENST4924 *ENST36874 ENST49567 c.2397a>g c.246a>g c.2337a>g c.2427a>g c.2388a>g c.255c>g c.249c>g c.249c>g c.244c>g c.253c>g c.25c>g c.249c>g c.2559c>t c.2448c>t c.257c>t c.2499c>t c.258c>t c.2538c>t c.257c>t c a>g c a>g c a>g c a>g c a>g c a>g c a>g c.2952c>g c.2892c>g p.leu85val p.leu77val p.leu77val p.leu84val p.leu844val p.leu834val p.leu83val

19 DCTN DCTN DCTN DCTN ENST49868 ENST4924 ENST49438 ENST47639 ENST3943 *ENST36874 ENST49438 ENST3943 ENST4924 ENST47639 ENST49868 ENST49567 *ENST36874 ENST49868 ENST49567 ENST49438 ENST47639 ENST3943 ENST4924 *ENST36874 ENST47639 ENST4924 ENST3943 ENST49438 ENST49868 ENST49567 *ENST36874 ENST49438 ENST47639 ENST49868 ENST3943 c.29c>g c.284c>g c.255c>g c.255c>g c.293c>g c.346g>a c.2744g>a c.325g>a c.335g>a c.2744g>a c.395g>a c.386g>a c.35c>t c.3435c>t c.3426c>t c.384c>t c.399c>t c.348c>t c.3375c>t c.3746c>t c.3344c>t c.362c>t c.3725c>t c.3329c>t c.368c>t c.367c>t c.3788t>g c.337t>g c.3386t>g c.3722t>g c.3767t>g p.arg49gln p.arg95gln p.arg42gln p.arg2gln p.arg95gln p.arg32gln p.arg29gln p.thr249ile p.thr5ile p.thr27ile p.thr242ile p.thrile p.thr227ile p.thr224ile p.val263gly p.val24gly p.val29gly

20 DCTN DCTN DCTN DCTN ENST49567 ENST4924 *ENST36874 ENST3943 ENST49567 ENST ENST479 *ENST36874 ENST47639 ENST49567 ENST4924 ENST49438 ENST3943 ENST49868 *ENST36874 ENST49868 ENST49567 ENST49438 ENST4924 ENST3943 ENST47639 *ENST36874 ENST3943 ENST49868 ENST49438 ENST4924 ENST49567 ENST47639 c.373t>g c.3662t>g c.42c>t c.42c>t c.42c>t c.63c>t c.54c>t c.586a>g c.84a>g c.526a>g c.475a>g c.84a>g c.565a>g c.535a>g c.597g>a c.546g>a c.537g>a c.95g>a c.486g>a c.576g>a c.95g>a c.73g>t c.692g>t c.662g>t c.3g>t c.62g>t c.653g>t c.3g>t p.val24gly p.val256gly p.val238gly p.val22gly p.ile96val p.ile62val p.ile76val p.ile59val p.ile62val p.ile89val p.ile79val p.arg238leu p.arg23leu p.arg22leu p.arg4leu p.arg2leu p.arg28leu p.arg4leu DCTN *ENST36874 c.8g>a

21 DCTN DPP6 DPP6 DPP6 DPP6 DPP6 ENST47639 ENST49567 ENST49438 ENST3943 ENST49868 ENST4924 *ENST36874 ENST ENST479 ENST49868 ENST43 ENST ENST3943 ENST42392 ENST44727 ENST4549 ENST49567 ENST4924 ENST *ENST37777 ENST46326 *ENST37777 ENST3327 ENST4439 ENST *ENST37777 ENST3327 ENST ENST4439 *ENST37777 ENST ENST3327 ENST4439 *ENST37777 ENST4439 c.399g>a c.74g>a c.399g>a c.78g>a c.75g>a c.69g>a c.82c>t c.3c>t c.94c>t c.3c>t c.3c>t c.3c>t c.82c>t c.3c>t c.3c>t c.3c>t c.82c>t c.3c>t c.3c>t c.4c>t c.4c>t c.458c>t c.272c>t c.266c>t c.37c>t c.459g>a c.273g>a c.38g>a c.267g>a c.66t>c c.295t>c c.43t>c c.424t>c c.7a>c c.59a>c p.arg28trp p.arg35trp p.arg32trp p.argtrp p.argtrp p.argtrp p.arg28trp p.argtrp p.argtrp p.argtrp p.arg28trp p.argtrp p.argtrp p.val487met p.val425met p.val38met p.val423met p.phe539ser p.phe432ser p.phe477ser p.phe475ser p.lys57gln p.lys57gln

22 DPP6 DPP6 DPP6 DPP6 DPP6 DPP6 DPP6 DPP6 splice acceptor ENST ENST3327 *ENST37777 ENST ENST3327 ENST4439 *ENST37777 ENST3327 ENST ENST4439 *ENST37777 ENST3327 ENST4439 ENST *ENST37777 ENST ENST4439 ENST3327 *ENST37777 ENST4439 ENST ENST3327 *ENST37777 ENST4439 ENST ENST3327 *ENST37777 ENST4439 ENST3327 ENST *ENST37777 ENST3327 c.39a>c c.525a>c c.896a>g c.575a>g c.7a>g c.74a>g c.9g>a c.725g>a c.59g>a c.79g>a c.227t>c c.94t>c c.935t>c c.86t>c c.225c>t c.884c>t c.23c>t c.29c>t c.2295a>g c.23a>g c.974a>g c.29a>g c.233c>t c.239c>t c.2c>t c.245c>t c.2373c>t c.28c>t c.287c>t c.252c>t c G>A p.lys464gln p.lys59gln

23 DPP6 DPP6 DPP6 DPP6 DPP6 ENST ENST4439 *ENST37777 ENST ENST3327 ENST4439 *ENST37777 ENST3327 ENST4439 ENST *ENST37777 ENST4439 ENST3327 *ENST37777 ENST4439 ENST3327 *ENST37777 ENST3327 ENST4439 c.292- G>A c.257- G>A c.286- G>A c.2427g>a c.26g>a c.224g>a c.2235g>a c.256t>c c.2375t>c c.2369t>c c.224t>c c.657c>t c.465c>t c.47c>t c.666c>t c.474c>t c.48c>t c.723a>g c.537a>g c.53a>g p.leu854pro p.leu792pro p.leu79pro p.leu747pro DPP6 * ENST46326 c.785c>t p.ser262leu *ENST37777 c.879t>c DPP6 ENST4439 c.687t>c ENST3327 c.693t>c ENST c.558t>c DPP6 DPP6 splice region *ENST37777 ENST3327 ENST ENST4439 *ENST37777 ENST3327 ENST c.883g>a c.697g>a c.562g>a c.69g>a c.945c>t c.759c>t c.624c>t p.glu295lys p.glu233lys p.glu88lys p.glu23lys

24 ENST4439 c.753c>t *ENST37777 c.948c>t DPP6 ENST4439 c.756c>t ENST c.627c>t ENST3327 c.762c>t DPP6 * ENST46326 c.982t>g p.cys328gly *ENST c.68g>a ELP3 ENST5243 c.852g>a ENST38353 c.792g>a ENST c.7g>a ENST525 c.26g>a ENST5428 c.68g>a ELP3 ELP3 ELP3 *ENST ENST57975 ENST ENST38353 ENST5243 ENST525 ENST ENST5428 *ENST ENST525 ENST5257 ENST52424 ENST5299 ENST52288 ENST5227 *ENST ENST38353 ENST525 ENST5428 ENST5243 ENST ENST c.38g>a c.97g>a c.5g>a c.42g>a c.2g>a c.276g>a c.96g>a c.93g>a c.39g>a c.97g>a c.97g>a c.39g>a c.97g>a c.97g>a c.97g>a c.459c>t c.83c>t c.47c>t c.72c>t c.243c>t c.256c>t c.2c>t p.glu44lys p.glu33lys p.glu39lys p.glu348lys p.glu368lys p.glu426lys p.glu32lys p.glu3lys p.ala47thr p.ala33thr p.ala33thr p.ala47thr p.ala33thr p.ala33thr p.ala33thr p.arg487trp p.arg395trp p.arg473trp p.arg358trp p.arg45trp p.arg86trp p.arg368trp ELP3 *ENST c.26g>t p.arg69leu

25 ELP3 ELP3 FGGY FGGY FGGY initiator codon splice region splice donor ENST52288 ENST5257 ENST525 ENST5299 ENST52424 ENST5227 *ENST ENST5299 ENST5243 ENST38353 ENST52288 ENST5428 ENST5257 ENST52424 ENST525 ENST5227 ENST c.64g>t c.64g>t c.64g>t c.64g>t c.26g>t c.64g>t c.326g>a c.284g>a c.g>a c.5g>a c.284g>a c.3g>a c.284g>a c.326g>a c.284g>a c.284g>a c.33g>a p.arg55leu p.arg55leu p.arg55leu p.arg55leu p.arg69leu p.arg55leu p.cys9tyr p.cys95tyr p.cys37tyr p.cys7tyr p.cys95tyr p.met? p.cys95tyr p.cys9tyr p.cys95tyr p.cys95tyr p.metile * ENST c.366g>a *ENST3728 ENST3372 ENST372 ENST3722 *ENST3728 ENST3372 ENST3722 ENST372 *ENST3728 ENST ENST43489 c.53a>g c.53a>g c.56a>g c.789a>g c.22+2t >C c.22+2t >C c.957+2t> C c.324+2t> C c.29t>g c.29t>g c.29t>g p.asn43lys p.asn43lys p.asn43lys

26 FGGY FGGY FGGY FGGY FGGY FGGY FGGY FGGY feature elongation frameshift ENST3372 ENST3722 *ENST3728 ENST3372 ENST3722 ENST372 *ENST3728 ENST372 ENST3372 ENST3722 *ENST3728 ENST43489 ENST3372 ENST3722 *ENST3728 ENST3372 ENST43489 *ENST3728 ENST3372 ENST3722 ENST ENST43489 *ENST3728 ENST3722 ENST43489 ENST3372 *ENST3728 ENST43489 ENST3722 ENST3372 *ENST3728 ENST3372 c.29t>g c.29t>g c.56c>t c.488c>t c.224c>t c.59c>t c.76g>a c.747g>a c.644g>a c.38g>a c.88g>c c.88g>c c.88g>c c.88g>c c.4_42i nsg c.4_42i nsg c.4_42i nsg c.49g>a c.49g>a c.49g>a c.49g>a c.49g>a c.56g>a c.252g>a c.56g>a c.56g>a c.56g>c c.56g>c c.252g>c c.56g>c c.64g>a c.64g>a p.asn43lys p.asn43lys p.met572ile p.met249ile p.met548ile p.met46ile p.cys63ser p.cys63ser p.cys63ser p.cys63ser p.val4glyf sx25 p.val4glyf sx25 p.val4glyf sx25 p.val7ile p.val7ile p.val7ile p.val7ile p.val7ile p.ser25asn p.ser25asn

27 FGGY FGGY FGGY FGGY FGGY FGGY FIG4 FIG4 FIG4 FIG4 FIG4 FIG4 FIG4 splice region splice region ENST3722 c.35g>a p.ser7asn *ENST3728 c.622a>g p.lys28glu ENST3372 c.622a>g p.lys28glu ENST3722 c.358a>g p.lys2glu *ENST3728 ENST3722 ENST3372 *ENST3728 ENST3722 ENST3372 *ENST3728 ENST3372 ENST3722 *ENST3728 ENST3722 ENST3372 ENST372 *ENST3728 ENST3372 ENST3722 ENST372 *ENST2324 ENST44478 *ENST2324 ENST45425 *ENST2324 ENST44478 *ENST2324 ENST44478 *ENST2324 ENST44478 *ENST2324 ENST44478 *ENST2324 ENST44478 c.63t>a c.366t>a c.63t>a c.8g>t c.536g>t c.8g>t c.857c>t c.857c>t c.593c>t c.93g>t c.639g>t c.93g>t c.6g>t c.979a>c c.979a>c c.75a>c c.82a>c c.9a>t c.259a>t c.22t>c c.59t>c c.35g>c c.474g>c c.426c>t c.595c>t c.525c>t c.694c>t c.527g>a c.696g>a c.793t>a c.962t>a p.gly267val p.gly79val p.gly267val p.thr286met p.thr286met p.thr98met p.asn327his p.asn327his p.asn239his p.asn28his p.met364leu p.met87leu p.ile4thr p.ile2thr p.arg476cys p.arg99cys p.phe598tyr p.phe32tyr

28 FIG4 FIG4 FIG4 FIG4 FUS FUS FUS FUS FUS FUS splice acceptor inframe deletion ENST4598 c.2t>a p.phe7tyr *ENST2324 c.96t>c p.val654ala ENST44478 c.3t>c p.val377ala *ENST2324 c.22g>a p.glu734lys ENST4995 c.2g>a p.glu4lys ENST44478 c.369g>a p.glu457lys *ENST2324 c.2559g>a ENST44478 c.64g>a *ENST2324 ENST45425 ENST44478 ENST36894 *ENST2548 ENST38244 ENST *ENST2548 ENST ENST38244 *ENST2548 ENST38244 ENST *ENST2548 ENST38244 ENST *ENST2548 ENST ENST38244 *ENST2548 ENST38244 ENST c.447-2a>t c.384-2a>t c.9-2a>t c.26-2a>t c.8c>t c.77c>t c.83c>t c.24_2 6delAGT c.27_2 9delAGT c.2_2 3delAGT c.32c>t c.32c>t c.32c>t c.47c>a c.47c>a c.47c>a c.53c>t c.53c>t c.53c>t c.545t>g c.542t>g c.548t>g p.ser42del p.ser43del p.ser4del

29 FUS FUS FUS FUS FUS FUS FUS FUS FUS FUS FUS inframe deletion *ENST2548 ENST ENST38244 *ENST2548 ENST ENST38244 *ENST2548 ENST ENST38244 *ENST2548 ENST38244 ENST *ENST2548 ENST ENST38244 *ENST2548 ENST ENST38244 *ENST2548 ENST ENST38244 *ENST2548 ENST38244 ENST *ENST2548 ENST38244 ENST *ENST2548 ENST38244 ENST *ENST2548 ENST38244 c.566g>a c.569g>a c.563g>a c.574c>t c.577c>t c.57c>t c.65_67 delttc c.65_67 delttc c.65_67 delttc c.23g>c c.228g>c c.23g>c c.232a>c c.232a>c c.229a>c c.234t>c c.234t>c c.23t>c c.29c>t c.29c>t c.288c>t c.339c>t c.336c>t c.339c>t c.422a>c c.49a>c c.422a>c c.423a>t c.42a>t c.423a>t c.74a>g c.74a>g p.pro525leu p.pro526leu p.pro524leu p.ser56del p.ser56del p.ser56del p.thr78pro p.thr78pro p.thr77pro p.gln4pro p.gln4pro p.gln4pro p.gln4his p.gln4his p.gln4his p.tyr25cys p.tyr25cys

30 GRN GRN GRN GRN GRN GRN GRN GRN ENST c.74a>g p.tyr25cys *ENST53867 c.297c>t p.arg433trp ENST c.738c>t p.arg247trp ENST c.826c>t p.arg276trp *ENST53867 c.695c>t ENST c.224c>t *ENST53867 c.762g>t p.ala588ser ENST c.29g>t p.ala43ser *ENST53867 ENST ENST5974 ENST58758 ENST59367 ENST58843 ENST ENST *ENST53867 ENST ENST *ENST53867 ENST ENST *ENST53867 ENST ENST *ENST53867 ENST58552 ENST ENST59367 ENST ENST58758 ENST5879 ENST5974 ENST58843 ENST c.384t>c c.384t>c c.384t>c c.384t>c c.384t>c c.384t>c c.384t>c c.426t>c c.693c>g c.34c>g c.495c>g c.75c>a c.46c>a c.57c>a c.97g>a c.499g>a c.4g>a c.99c>t c.99c>t c.99c>t c.99c>t c.99c>t c.99c>t c.99c>t c.99c>t c.99c>t c.99c>t p.cys23trp p.cys45trp p.cys65trp p.ala324thr p.ala67thr p.ala38thr

31 HFE HFE HFE HFE HFE ENST ENST *ENST35768 ENST37896 ENST46397 ENST39234 ENST4749 ENST *ENST35768 ENST39234 ENST ENST37896 ENST46397 ENST4749 ENST39722 *ENST35768 ENST39722 ENST39234 ENST46397 ENST4749 ENST37896 ENST *ENST35768 ENST35347 ENST39234 ENST48899 ENST ENST ENST46397 ENST4749 ENST ENST37896 ENST39722 *ENST35768 ENST37896 c.99c>t c.99c>t c.38g>a c.38g>a c.38g>a c.38g>a c.38g>a c.38g>a c.57g>a c.57g>a c.57g>a c.57g>a c.57g>a c.57g>a c.88g>a c.87c>g c.8c>g c.87c>g c.87c>g c.87c>g c.87c>g c.87c>g c.8g>c c.8g>c c.8g>c c.8g>c c.8g>c c.8g>c c.8g>c c.8g>c c.8g>c c.8g>c c.8g>c c.93a>t c.93a>t p.val53met p.val53met p.val53met p.val53met p.val53met p.val53met p.val3met p.his63asp p.his4asp p.his63asp p.his63asp p.his63asp p.his63asp p.his63asp p.arg6ser p.arg6ser p.arg6ser p.arg6ser p.arg6ser p.arg6ser p.arg6ser p.arg6ser p.arg6ser p.arg6ser p.arg6ser p.ser65cys p.ser65cys

32 HFE HFE HFE HFE ENST4749 ENST ENST39722 ENST39234 ENST46397 *ENST35768 ENST48899 ENST ENST39234 ENST46397 ENST4749 ENST39722 *ENST35768 ENST ENST39234 ENST35347 ENST46397 ENST4749 ENST48899 ENST ENST37896 ENST39722 ENST *ENST35768 ENST ENST4749 ENST37896 ENST39234 ENST39722 ENST35347 ENST48899 ENST ENST46397 *ENST35768 ENST37896 c.93a>t c.93a>t c.24a>t c.93a>t c.93a>t c.52g>c c.238g>c c.238g>c c.52g>c c.52g>c c.52g>c c.433g>c c.5c>t c.5c>t c.5c>t c.5c>t c.5c>t c.5c>t c.5c>t c.5c>t c.5c>t c.5c>t c.5c>t c.67c>t c.352c>t c.66c>t c.394c>t c.67c>t c.6c>t c.3c>t c.364c>t c.46c>t c.628c>t c.68g>a c.68g>a p.ser65cys p.ser65cys p.ser42cys p.ser65cys p.ser65cys p.glu68gln p.glu8gln p.glu8gln p.glu68gln p.glu68gln p.glu68gln p.glu45gln p.thr7ile p.thr7ile p.thr7ile p.thr7ile p.thr7ile p.thr7ile p.thr7ile p.thr7ile p.thr7ile p.thr7ile p.thr7ile p.arg224trp p.arg8trp p.arg22trp p.arg32trp p.arg224trp p.arg2trp p.arg44trp p.arg22trp p.arg36trp p.arg2trp p.arg23his p.arg23his

33 HFE HFE HFE ENST39234 ENST4749 ENST ENST39722 ENST ENST35347 ENST48899 ENST ENST46397 *ENST35768 ENST35347 ENST ENST39234 ENST46397 ENST48899 ENST ENST39722 ENST37896 ENST4749 *ENST35768 ENST ENST48899 ENST37896 ENST39234 ENST4749 ENST39722 ENST46397 ENST35347 ENST *ENST35768 ENST48899 ENST37896 ENST4749 ENST39234 ENST c.68g>a c.68g>a c.68g>a c.68g>a c.68g>a c.68g>a c.68g>a c.68g>a c.68g>a c.766g>a c.226g>a c.52g>a c.766g>a c.724g>a c.46g>a c.448g>a c.697g>a c.49g>a c.757g>a c.829g>a c.565g>a c.523g>a c.553g>a c.829g>a c.82g>a c.76g>a c.787g>a c.289g>a c.5g>a c.845g>a c.539g>a c.569g>a c.836g>a c.845g>a c.58g>a p.arg23his p.arg23his p.arg23his p.arg23his p.arg23his p.arg23his p.arg23his p.arg23his p.arg23his p.val256ile p.val76ile p.val68ile p.val256ile p.val242ile p.val54ile p.val5ile p.val233ile p.val64ile p.val253ile p.glu277lys p.glu89lys p.glu75lys p.glu85lys p.glu277lys p.glu274lys p.glu254lys p.glu263lys p.glu97lys p.glu7lys p.cys282tyr p.cys8tyr p.cys9tyr p.cys279tyr p.cys282tyr p.cys94tyr

34 ENST ENST46397 ENST35347 ENST39722 c.527g>a c.83g>a c.35g>a c.776g>a p.cys76tyr p.cys268tyr p.cys2tyr p.cys259tyr IFNK *ENST c.263a>g p.tyr88cys IFNK *ENST c.279g>a IFNK *ENST c.282c>t IFNK feature elongation frameshift *ENST c.3_3ins TGTT p.trp3phefs X IFNK *ENST c.397a>g p.lys33glu IFNK stop gained *ENST c.43g>t p.glu5x IFNK *ENST c.486g>c ITPR2 stop gained *ENST3834 c.38c>t p.arg44x ITPR2 *ENST3834 c.358c>t p.ala453val ITPR2 *ENST3834 c.674c>t ITPR2 *ENST3834 c.857c>t ITPR2 *ENST3834 c.95a>g ITPR2 *ENST3834 c.26a>c ITPR2 *ENST3834 c.28t>c p.met673thr ITPR2 *ENST3834 c.255a>g ITPR2 *ENST3834 c.2262a>c ITPR2 *ENST3834 c.2358c>t ITPR2 *ENST3834 c.2694c>t ITPR2 *ENST3834 c.2854c>t p.pro952ser ITPR2 *ENST3834 c.2883c>t ITPR2 *ENST3834 c.37g>a ITPR2 stop gained *ENST3834 c.3358c>t p.arg2x ITPR2 *ENST3834 c.3369a>g ITPR2 *ENST3834 c.3485t>g p.val62gly ITPR2 *ENST3834 c.3539g>a p.arg8gln ITPR2 *ENST3834 c.364g>a p.arg25gln ITPR2 *ENST3834 c.3635c>t p.ala22val

35 ITPR2 *ENST3834 c.3824g>a p.arg275gln ITPR2 *ENST3834 c.423c>t ITPR2 *ENST3834 c.425c>t ITPR2 *ENST3834 c.4239c>t ITPR2 *ENST3834 c.435a>g ITPR2 *ENST3834 c.447a>g ITPR2 *ENST3834 c.4482c>t ITPR2 splice region *ENST3834 c.4962g>a ITPR2 *ENST3834 c.58t>c ITPR2 *ENST3834 c.575g>a ITPR2 *ENST3834 c.533c>t ITPR2 *ENST3834 c.5569c>t ITPR2 *ENST3834 c.57g>c ITPR2 *ENST3834 c.622g>a p.ala28thr ITPR2 *ENST3834 c.6346g>c p.ala26pro ITPR2 *ENST3834 c.6389c>t p.ser23leu ITPR2 *ENST3834 c.639g>a ITPR2 *ENST3834 c.6529a>c p.lys277gln ITPR2 *ENST3834 c.6833t>c p.leu2278pro ITPR2 *ENST3834 c.6966t>c ITPR2 splice region *ENST3834 c.74t>g ITPR2 *ENST3834 c.758g>a ITPR2 *ENST3834 c.765a>g ITPR2 *ENST3834 c.798g>a ITPR2 *ENST3834 c.82g>a p.ala2668thr *ENST34429 c.8c>t p.arg37trp MAPT ENST2624 c.8c>t p.arg37trp 2 ENST4563 c.8c>t p.arg37trp ENST57987 c.8c>t p.arg37trp MAPT *ENST34429 ENST4563 c.28c>t c.28c>t p.ser427phe p.ser427phe

36 MAPT MAPT MAPT MAPT MAPT ENST57987 ENST2624 *ENST34429 ENST4563 ENST2624 ENST57987 *ENST34429 ENST57987 ENST4563 ENST2624 *ENST34429 ENST57987 ENST4563 ENST2624 *ENST34429 ENST4563 ENST35559 ENST34799 ENST57987 ENST42682 ENST ENST57658 ENST438 ENST44636 ENST ENST ENST ENST2624 *ENST34429 ENST57658 ENST ENST ENST42682 ENST c.28c>t c.28c>t c.36c>a c.36c>a c.36c>a c.36c>a c.32t>c c.32t>c c.32t>c c.32t>c c.339t>c c.339t>c c.339t>c c.339t>c c.45g>a c.45g>a c.454g>a c.367g>a c.45g>a c.367g>a c.454g>a c.247g>a c.454g>a c.28g>a c.72g>a c.454g>a c.28g>a c.45g>a c.479g>a c.32g>a c.246g>a c.528g>a c.44g>a c.354g>a p.ser427phe p.ser427phe p.pro436thr p.pro436thr p.pro436thr p.pro436thr p.tyr44his p.tyr44his p.tyr44his p.tyr44his p.ser447pro p.ser447pro p.ser447pro p.ser447pro p.ala469thr p.ala469thr p.ala52thr p.ala23thr p.ala469thr p.ala23thr p.ala52thr p.ala83thr p.ala52thr p.ala94thr p.ala58thr p.ala52thr p.ala94thr p.ala469thr

37 MAPT MAPT MAPT ENST ENST2624 ENST438 ENST44636 ENST35559 ENST57987 ENST4563 ENST34799 *ENST34429 ENST4563 *ENST34429 ENST57987 ENST35559 ENST34799 ENST4563 ENST ENST438 ENST44636 ENST57658 ENST2624 ENST ENST ENST42682 ENST *ENST34429 ENST ENST42682 ENST57987 ENST ENST4563 ENST35559 ENST2624 ENST44636 ENST438 ENST34799 c.528g>a c.479g>a c.528g>a c.354g>a c.528g>a c.479g>a c.479g>a c.44g>a c.52t>c c.52t>c c.686a>g c.632a>g c.68a>g c.594a>g c.686a>g c.57a>g c.68a>g c.57a>g c.474a>g c.632a>g c.68a>g c.399a>g c.594a>g c.68a>g c.72g>a c.433g>a c.628g>a c.666g>a c.54g>a c.72g>a c.75g>a c.666g>a c.54g>a c.75g>a c.628g>a p.ala574thr p.ala45thr p.ala2thr p.ala556thr p.ala8thr p.ala574thr p.ala239thr p.ala556thr p.ala8thr p.ala239thr p.ala2thr

38 MAPT MAPT MAPT ENST ENST57658 ENST *ENST34429 ENST35559 ENST44636 ENST ENST34799 ENST ENST ENST2624 ENST57658 ENST438 ENST ENST57987 ENST42682 ENST4563 *ENST34429 ENST44636 ENST ENST35559 ENST57987 ENST ENST42682 ENST ENST34799 ENST57658 ENST ENST438 ENST4563 ENST2624 *ENST34429 ENST44636 ENST57987 ENST42682 c.75g>a c.58g>a c.75g>a c.77t>c c.765t>c c.59t>c c.765t>c c.678t>c c.59t>c c.765t>c c.76t>c c.558t>c c.765t>c c.483t>c c.76t>c c.678t>c c.77t>c c.85g>a c.636g>a c.8g>a c.8g>a c.76g>a c.636g>a c.723g>a c.528g>a c.723g>a c.63g>a c.8g>a c.8g>a c.85g>a c.76g>a c.278g>a c.999g>a c.224g>a c.86g>a p.ala239thr p.ala7thr p.ala239thr

39 MAPT MAPT MAPT MAPT MAPT ENST ENST ENST57658 ENST4563 ENST34799 ENST35559 ENST438 ENST ENST2624 ENST *ENST34429 ENST438 ENST2624 ENST57987 ENST ENST ENST35559 ENST4563 *ENST34429 ENST4563 ENST57987 ENST2624 *ENST34429 ENST2624 ENST4563 ENST57987 *ENST34429 ENST4563 ENST2624 ENST57987 *ENST34429 ENST2624 ENST4563 ENST57987 c.96g>a c.8g>a c.873g>a c.278g>a c.86g>a c.73g>a c.8g>a c.798g>a c.224g>a c.73g>a c.284c>t c.284c>t c.284c>t c.284c>t c.284c>t c.284c>t c.284c>t c.284c>t c.65c>t c.65c>t c.65c>t c.65c>t c.67t>g c.67t>g c.67t>g c.67t>g c.689a>g c.689a>g c.689a>g c.689a>g c.698c>t c.698c>t c.698c>t c.698c>t p.thr95met p.thr95met p.thr95met p.thr95met p.thr95met p.thr95met p.thr95met p.thr95met p.pro22leu p.pro22leu p.pro22leu p.pro22leu p.val224gly p.val224gly p.val224gly p.val224gly p.gln23arg p.gln23arg p.gln23arg p.gln23arg p.pro233leu p.pro233leu p.pro233leu p.pro233leu MAPT stop gained * ENST57658 c.7a>t p.lys3x

40 MAPT MAPT MAPT *ENST34429 ENST57987 ENST2624 ENST4563 *ENST34429 ENST2624 ENST57987 ENST4563 *ENST34429 ENST4563 ENST2624 ENST57987 c.853g>a c.853g>a c.853g>a c.853g>a c.855c>t c.855c>t c.855c>t c.855c>t c.866t>c c.866t>c c.866t>c c.866t>c p.asp285asn p.asp285asn p.asp285asn p.asp285asn p.val289ala p.val289ala p.val289ala p.val289ala MOB3B *ENST c.44c>t MOB3B *ENST c.65g>a MOB3B *ENST c.98g>a p.arg33gln NEFH *ENST3624 c.54c>a p.arg352ser NEFH *ENST3624 c.5g>a p.ala369thr NEFH *ENST3624 c.2c>t NEFH *ENST3624 c.387g>a p.glu463lys NEFH *ENST3624 c.58c>t p.pro527leu NEFH *ENST3624 c.74c>t NEFH *ENST3624 c.844c>t p.pro65leu NEFH *ENST3624 c.933g>a p.glu645lys NEFH feature elongation frameshift *ENST3624 c.935_9 36insG p.ala646glyf sx NEFH *ENST3624 c.935a>g NEFH *ENST3624 c.938a>c NEFH *ENST3624 c.965a>t NEFH inframe deletion *ENST3624 c.97_9 75delAGG AAG p.glu658_glu 659del NEFH *ENST3624 c.973a>c p.glu658ala NEFH *ENST3624 c.974a>c p.glu658asp NEFH *ENST3624 c.975g>a p.glu659lys

41 NEFH *ENST3624 c.989t>a NEFH *ENST3624 c.282c>t NEFH *ENST3624 c.2232t>c NEFH inframe c.2368_23 *ENST3624 deletion 7delAAG p.lys79del NEFH *ENST3624 c.244a>c p.glu85ala NEFH *ENST3624 c.2646c>t NEFH *ENST3624 c.274g>a p.val94met NEFH *ENST3624 c.2757c>t NEFH *ENST3624 c.2784a>g NEFH *ENST3624 c.2977a>g p.lys993glu NIPA NIPA OPTN OPTN OPTN *ENST ENST43792 ENST5683 *ENST ENST43792 ENST5683 *ENST26336 ENST ENST ENST ENST ENST *ENST26336 ENST ENST ENST ENST ENST *ENST26336 ENST ENST ENST ENST ENST c.233t>g c.8t>g c.8t>g c.44a>g c.26a>g c.26a>g c.2g>a c.2g>a c.2g>a c.2g>a c.2g>a c.2g>a c.92c>g c.74c>g c.92c>g c.74c>g c.92c>g c.92c>g c.23g>a c.23g>a c.23g>a c.23g>a c.23g>a c.23g>a p.val78gly p.val3gly p.val3gly p.gln398glu p.gln392glu p.gln398glu p.gln392glu p.gln398glu p.gln398glu

42 OPTN OPTN OPTN OPTN OPTN *ENST26336 ENST ENST ENST ENST ENST *ENST26336 ENST ENST ENST ENST438 ENST ENST *ENST26336 ENST ENST438 ENST ENST ENST ENST *ENST26336 ENST ENST ENST438 ENST ENST ENST *ENST26336 ENST ENST ENST438 ENST ENST ENST c.569g>a c.569g>a c.55g>a c.569g>a c.55g>a c.569g>a c.87c>a c.87c>a c.87c>a c.87c>a c.6c>a c.87c>a c.87c>a c.23g>a c.23g>a c.42g>a c.23g>a c.23g>a c.23g>a c.23g>a c.287g>a c.287g>a c.287g>a c.6g>a c.287g>a c.287g>a c.287g>a c.293t>a c.293t>a c.293t>a c.22t>a c.293t>a c.293t>a c.293t>a p.gln63lys p.gln63lys p.gln63lys p.gln63lys p.gln6lys p.gln63lys p.gln63lys p.arg96his p.arg96his p.arg96his p.arg39his p.arg96his p.arg96his p.arg96his p.met98lys p.met98lys p.met98lys p.met4lys p.met98lys p.met98lys p.met98lys OPTN *ENST26336 c.489a>g

43 OPTN OPTN PARK7 PARK7 PARK7 ENST ENST ENST438 ENST ENST ENST *ENST26336 ENST ENST438 ENST ENST ENST ENST *ENST26336 ENST ENST ENST ENST ENST *ENST ENST ENST37749 ENST ENST ENST *ENST ENST ENST ENST ENST ENST ENST37749 *ENST ENST ENST c.489a>g c.489a>g c.38a>g c.489a>g c.489a>g c.489a>g c.53c>t c.53c>t c.342c>t c.53c>t c.53c>t c.53c>t c.53c>t c.964a>g c.964a>g c.964a>g c.964a>g c.946a>g c.946a>g c.234c>t c.7c>t c.234c>t c.234c>t c.234c>t c.234c>t c.293g>a c.293g>a c.233g>a c.76g>a c.293g>a c.293g>a c.293g>a c.49a>c c.49a>c c.49a>c p.lys322glu p.lys322glu p.lys322glu p.lys322glu p.lys36glu p.lys36glu p.arg98gln p.arg98gln p.arg78gln p.arg59gln p.arg98gln p.arg98gln p.arg98gln p.met7leu p.met7leu p.met7leu

44 PARK7 PARK7 PON PON PON PON PON PON PON PON PON3 feature elongation frameshift ENST ENST ENST37749 *ENST ENST ENST ENST ENST ENST37749 ENST *ENST ENST ENST37749 ENST ENST ENST ENST *ENST22238 ENST *ENST22238 ENST *ENST22238 ENST *ENST22238 ENST *ENST22238 ENST *ENST22238 ENST *ENST22238 ENST *ENST ENST c.49a>c c.49a>c c.49a>c c.5a>g c.5a>g c.44a>g c.44a>g c.5a>g c.5a>g c.5a>g c.535g>a c.475g>a c.535g>a c.448g>a c.535g>a c.535g>a c.535g>a c.63t>a c.63t>a c.39dupg c.39dupg c.468a>g c.468a>g c.575a>g c.575a>g c.62c>t c.62c>t c.63g>a c.63g>a c.953c>t c.953c>t c.63c>t c.63c>t p.met7leu p.met7leu p.met7leu p.ala79thr p.ala59thr p.ala79thr p.ala5thr p.ala79thr p.ala79thr p.ala79thr p.leu55met p.leu55met p.val3glyf sx5 p.val3glyf sx p.gln92arg p.gln92arg p.ala2val p.ala2val p.thr38ile p.thr38ile

45 PON PON3 PON2 PON2 PON2 PON2 PON2 PON2 PON2 stop gained feature truncation frameshift ENST *ENST ENST ENST *ENST ENST4339 ENST53683 *ENST ENST4339 ENST53683 *ENST ENST53683 ENST4339 *ENST ENST4339 ENST53683 *ENST ENST4339 ENST53683 *ENST ENST53683 ENST4339 *ENST ENST4339 ENST53683 *ENST ENST *ENST ENST *ENST ENST c.63c>t c.94c>t c.94c>t c.94c>t c.286dela c.286dela c.349dela c.359t>g c.359t>g c.422t>g c.443c>g c.56c>g c.47c>g c.66t>g c.625t>g c.724t>g c.827c>t c.79c>t c.89c>t c.93c>t c.976c>t c.877c>t c.932c>g c.896c>g c.995c>g p.arg32x p.arg32x p.arg32x p.arg96glyfs X5 p.arg96glyfs X5 p.arg7glyf sx5 p.ile2arg p.ile2arg p.ile4arg p.ala48gly p.ala69gly p.ala36gly p.ser22ala p.ser29ala p.ser242ala p.ser276leu p.ser264leu p.ser297leu p.arg35cys p.arg326cys p.arg293cys p.ser3cys p.ser299cys p.ser332cys c.262a>g p.met88val PON c.262a>g p.met88val c.297g>a PON c.297g>a 2 6 c.48g>t p.met36ile PON c.48g>t p.met36ile PON3 *ENST c.69t>c

46 ENST c.69t>c PON3 *ENST c.89t>c PON3 *ENST c.954c>t PON3 *ENST c.97g>a p.gly324asp PRPH *ENST25786 c.83c>g ENST c.268c>g PRPH *ENST25786 c.4a>g ENST c.289a>g PRPH *ENST25786 c.7a>g ENST c.292a>g PRPH *ENST25786 c.225g>a p.val49met ENST c.4g>a p.val38met PRPH *ENST25786 c.23g>a p.val4ile ENST c.46g>a p.val4ile PRPH *ENST25786 c.33c>t p.arg435trp ENST c.488c>t p.arg64trp PRPH *ENST25786 c.26g>a p.arg9gln PRPH *ENST25786 c.322t>c p.phe8leu ENST4589 c.79t>c p.phe27leu PRPH *ENST25786 c.63c>t PRPH *ENST25786 c.829g>a p.ala277thr ENST c.4g>a p.ala6thr *ENST2244 c.77t>c ENST37269 c.77t>c ENST39322 c.77t>c *ENST2244 ENST37269 ENST39322 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST37269 ENST39322 c.655a>c c.655a>c c.655a>c c.75c>g c.75c>g c.75c>g c.869a>c c.869a>c c.869a>c p.gln552pro p.gln552pro p.gln552pro p.leu584val p.leu584val p.leu584val p.glu623asp p.glu623asp p.glu623asp *ENST2244 c.92a>g

47 ENST39322 ENST37269 *ENST2244 ENST39322 ENST37269 * ENST43644 ENST37269 *ENST2244 ENST39322 ENST37269 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST39322 ENST37269 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST39322 ENST37269 c.92a>g c.92a>g c.979c>g c.979c>g c.979c>g c.295c>t c.7369c>t c.234g>a c.234g>a c.234g>a c.24t>c c.24t>c c.24t>c c.2479a>g c.2479a>g c.2479a>g c.277c>t c.277c>t c.277c>t c.2755g>c c.2755g>c c.2755g>c c.2842c>a c.2842c>a c.2842c>a c.2964a>g c.2964a>g c.2964a>g c.2975a>g c.2975a>g c.2975a>g c.347c>t c.347c>t c.347c>t p.ala66gly p.ala66gly p.ala66gly p.leu699phe p.leu2457ph e p.leu84ser p.leu84ser p.leu84ser p.lys827glu p.lys827glu p.lys827glu p.ser96leu p.ser96leu p.ser96leu p.val99leu p.val99leu p.val99leu p.pro948thr p.pro948thr p.pro948thr p.lys992arg p.lys992arg p.lys992arg

48 feature elongation frameshift *ENST2244 ENST37269 ENST39322 *ENST2244 ENST39322 ENST37269 *ENST2244 ENST39322 ENST37269 *ENST2244 ENST39322 ENST37269 *ENST2244 ENST39322 ENST37269 *ENST2244 ENST39322 ENST37269 *ENST2244 ENST37269 ENST39322 c.322a>g c.322a>g c.322a>g c.3229g>a c.3229g>a c.3229g>a c.3336t>c c.3336t>c c.3336t>c c.3455t>g c.3455t>g c.3455t>g c.3576t>g c.3576t>g c.3576t>g c.3754g>a c.3754g>a c.3754g>a c.393dup A c.393dup A c.393dup p.glu74gly p.glu74gly p.glu74gly p.asp77as n p.asp77as n p.asp77as n p.phe52cy s p.phe52cy s p.phe52cy s p.asp92glu p.asp92glu p.asp92glu p.gly252arg p.gly252arg p.gly252arg p.arg3thr fsx2 p.arg3thr fsx2 p.arg3thr

49 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST39322 ENST37269 *ENST2244 ENST39322 ENST37269 *ENST2244 ENST39322 ENST37269 *ENST2244 ENST43644 ENST37269 ENST39322 *ENST2244 ENST37269 ENST39322 *ENST2244 ENST43644 ENST37269 ENST39322 A c.456a>g c.456a>g c.456a>g c.466t>g c.466t>g c.466t>g c.477t>c c.477t>c c.477t>c c.472t>g c.472t>g c.472t>g c.4755t>g c.4755t>g c.4755t>g c.56g>a c.56g>a c.56g>a c.527a>g c.527a>g c.527a>g c.5283a>g c.9a>g c.5283a>g c.5283a>g c.54a>g c.54a>g c.54a>g c.5563a>g c.289a>g c.5563a>g c.5563a>g fsx2 p.ile386val p.ile386val p.ile386val p.cys554gly p.cys554gly p.cys554gly p.leu58val p.leu58val p.leu58val p.arg69his p.arg69his p.arg69his p.thr855ala p.thr97ala p.thr855ala p.thr855ala

50 *ENST2244 ENST37269 ENST43644 ENST39322 *ENST2244 ENST37269 ENST39322 ENST43644 *ENST2244 ENST37269 ENST43644 ENST39322 *ENST2244 ENST39322 ENST37269 ENST43644 *ENST2244 ENST39322 ENST37269 *ENST2244 ENST39322 ENST37269 ENST43644 *ENST2244 ENST39322 ENST37269 ENST43644 c.5587a>g c.5587a>g c.33a>g c.5587a>g c.58t>c c.58t>c c.58t>c c.537t>c c.5842a>g c.5842a>g c.568a>g c.5842a>g c.5998c>g c.5998c>g c.5998c>g c.724c>g c.59g>a c.59g>a c.59g>a c.65g>a c.65g>a c.65g>a c.73g>a c.624t>c c.624t>c c.624t>c c.75t>c p.thr863ala p.thr863ala p.thr5ala p.thr863ala p.met948va l p.met948va l p.met9val p.met948va l p.gln2glu p.gln2glu p.gln2glu p.gln242glu p.arg2his p.arg2his p.arg2his p.arg22his p.arg22his p.arg22his p.arg244his *ENST2244 c.649a>g p.met27va

Names for ABO (ISBT 001) Blood Group Alleles

Names for ABO (ISBT 001) blood group alleles v1.1 1102 Names for ABO (ISBT 001) Blood Group Alleles General description: The ABO system was discovered as in 1900 and is considered the first and clinically