Supplementary table 1. List of variants described by the BBS-ALMS1 mutation array.

Gene Name/ (Synonyms) / exon/ intron / NUCLEOTIDE_Change_ cDNA / AMINO_ACID_ Change / SNP _ID
BBS1 / intron1 / IVS1+59C/T / intronic / -
BBS1 / exon2 / 104A>G / H35R / -
BBS1 / exon4 / 378G/A / L126L / rs2298806
BBS1 / exon4 / 382C>T / Q128X / -
BBS1 / exon5 / 436C>T / R146X / -
BBS1 / exon5 / 442G>A / D148N / -
BBS1 / exon5 / 479G>A / R160Q / -
BBS1 / intron6 / IVS6+55C/T / intronic / rs2276406
BBS1 / exon8 / 700G>A / E234K / rs35520756
BBS1 / intron8 / IVS8-8G/C / intronic / rs10896125
BBS1 / intron9 / IVS9-3C>G / intronic / -
BBS1 / exon10 / 851delA / Y284X / -
BBS1 / exon10 / 871C>T / Q291X / -
BBS1 / exon10 / 913G>A / G305S / -
BBS1 / exon12 / 1150G>T / E384X / -
BBS1 / exon12 / 1169T>G / M390R / -
BBS1 / intron12 / IVS12+116T/C / intronic / rs3819247
BBS1 / exon13 / 1285C>T / R429X / -
BBS1 / exon13 / 1318C>T / R440X / -
BBS1 / intron13 / IVS13-2A>G / intronic / -
BBS1 / exon14 / 1413C/T / L471L / rs3816492
BBS1 / exon14 / 1447C>T / R483X / -
BBS1 / exon15 / 1553T>C / L518P / -
BBS1 / intron15 / IVS15+95C/T / intronic / rs2305532
BBS1 / exon16 / 1645G>T / E549X / -
BBS1 / DDP3_exon18 / 2068G/A / K690E / rs12421620
BBS2 / 5'UTR / IVS1-1G>C / intronic / -
BBS2 / exon1 / 72C>G / Y24X / -
BBS2 / exon2 / 175C>T / Q59X / -
BBS2 / exon2 / 209A>G / N70S / -
BBS2 / exon2 / 266A>G / Y89C / -
BBS2 / exon2 / 311A>C / D104A / -
BBS2 / exon3 / 367A/G / V123I / rs11373
BBS2 / exon3 / 402delT / P134fsX200 / -
BBS2 / intron4 / IVS4+1G>C / intronic / -
BBS2 / intron5 / IVS5-54C/G / intronic / rs4784675
BBS2 / exon6 / 627delTT / L209fsX229 / -
BBS2 / exon6 / 646C>T / R216X / -
BBS2 / intron6 / IVS6+50G/A / intronic / -
BBS2 / exon8 / 823C>T / R275X / -
BBS2 / exon9 / 944G>A / R315Q / -
BBS2 / exon9 / 1046T>G / L349W / -
BBS2 / exon12 / 1413A/C / V471V / rs35294865
BBS2 / exon14 / 1673C>T / T558I / -
BBS2 / exon15 / 1895G>C / R632P / -
BBS2 / intron16 / IVS16+79A/T / intronic / rs8062526
BBS3/(ARL6) / exon3 / 4G>T / G2X / -
BBS3/(ARL6) / exon3 / 92C>T / T31R / -
BBS3/(ARL6) / exon3 / 92C>G / T31M / -
BBS3/(ARL6) / intron3 / T/G / intronic / rs13075229
BBS3/(ARL6) / intron5 / IVS5+127A/T / intronic / rs10935082
BBS3/(ARL6) / intron5 / IVS5-49A/G / intronic / -
BBS3/(ARL6) / exon8 / 506G>C / G169A / -
BBS3/(ARL6) / exon8 / 509T>G / L170W / -
BBS3/(ARL6) / intron8 / A/G / intronic / rs10511163
BBS3/(ARL6) / 3'UTR / 1139G/C / 3'UTR / rs4857294
BBS4 / exon1 / 17C/T / 5'UTR / rs56368716
BBS4 / intron2 / IVS2+3258A/G / intronic / rs13379630
BBS4 / intron2 / IVS2-6G>A / intronic / rs8033604
BBS4 / intron4 / IVS4+91G/A / intronic / rs33923961
BBS4 / intron6 / IVS6+17C/T / intronic / -
BBS4 / exon8 / 493A>C / N165H / -
BBS4 / exon12 / 980T>C / L327P / -
BBS4 / exon13 / 1052T>G / L351R / -
BBS4 / exon13 / 1095C/T / T354I / rs2277598
BBS4 / exon13 / 1091C>A / A364E / -
BBS4 / exon15 / 1370G>T / S457I / -
BBS4 / exon15 / 1414A>G / M472V / -
BBS4 / intron15 / 1450+2delTAGG / intronic / -
BBS4 / intron15 / IVS15-45T/C / intronic / -
BBS5 / 5'UTR / 5' upstr -556A/C / intronic / rs4260206
BBS5 / 5'UTR / 5' upstr -22C/T / intronic / -
BBS5 / exon2 / 108C/T / S36S / rs16823066
BBS5 / exon3 / 177G>A / W59X / -
BBS5 / intron5 / IVS5+1214T/A / intronic / rs12996512
BBS5 / exon6 / 425T>G / L142X / -
BBS5 / intron6 / 522+3A>G / intronic / -
BBS5 / exon7 / 551A>G / N184S / -
BBS5 / exon8 / 620G>A / R207H / -
BBS5 / intron10 / IVS10-48G/C / intronic / -
BBS5 / intron2 / IVS2-150G/T / intronic / rs13428077
BBS6/(MKKS) / exon3 / 110A>G / Y37C / -
BBS6/(MKKS) / exon3 / 169A>G / T57A / -
BBS6/(MKKS) / exon3 / 442C>T / Q148X / -
BBS6/(MKKS) / exon3 / 706T>C / S236P / -
BBS6/(MKKS) / exon3 / 709A>C / T237P / -
BBS6/(MKKS) / exon3 / 724G>T / A242S / -
BBS6/(MKKS) / exon3 / 1507G>A / G250R / -
BBS6/(MKKS) / exon3 / 830T>C / L277P / -
BBS6/(MKKS) / exon3 / 857A>C / D286A / -
BBS6/(MKKS) / exon3 / 973A>C / T325P / -
BBS6/(MKKS) / intron5 / IVS5+437A/G / intronic / rs7344015
BBS6/(MKKS) / exon6 / 2120T>C / L454P / -
BBS6/(MKKS) / exon6 / 1436C>G / S479X / -
BBS6/(MKKS) / exon6 / 1531T>G / S511A / -
BBS6/(MKKS) / intron1 / IVS1-9645A/G / intronic / rs7363678
BBS6/(MKKS) / exon6 / 1553G>A / R518H / -
BBS6/(MKKS) / exon6 / 1569A>G / Q523Q / -
BBS6/(MKKS) / 3'UTR / IVS6+261C/T / intronic / rs6108550
BBS7 / - / C/T / - / -
BBS7 / intron3 / IVS3-45C/T / intronic / rs56159666
BBS7 / exon4 / 196A>T / I66F / -
BBS7 / exon7 / 632C>T / T211I / -
BBS7 / exon10 / 968A>G / H323R / -
BBS7 / intron17 / IVS17+16G/A / intronic / rs1507994
BBS7 / intron18 / IVS18-966C/T / intronic / rs6818199
BBS8/(TTC8) / intron3 / IVS3+48T/C / intronic / rs17700296
BBS8/(TTC8) / intron7 / IVS7-81A/G / intronic / rs2273657
BBS8/(TTC8) / intron10 / IVS10+4866A/G / intronic / rs17124926
BBS8/(TTC8) / 3'UTR / 1597+994T/C / 3’ downstream / rs17124935
BBS9 / exon5 / 421G>A / G141R / -
BBS9 / intron5 / IVS5+1G>C / intronic / -
BBS9 / exon10 / 1063C>T / Q355X / -
BBS9 / intron17 / IVS17+1G>A / intronic / -
BBS9 / exon18 / 1792C>T / R598X / -
BBS9 / exon18 / 1877_1880delAACA / K626fsX647 / -
BBS9 / exon19 / 2046insC / K683fsX687 / -
BBS10 / exon1 / 32T>G / V11G / -
BBS10 / exon1 / 37_44delGCGGCGTT / A13fsX81 / -
BBS10 / exon1 / 101G>C / R34P / -
BBS10 / exon1 / 145C>T / R49W / -
BBS10 / exon2 / 219_229delCAGTCATCTCA / S73fsX91 / -
BBS10 / exon2 / 234A>C / K78N / -
BBS10 / exon2 / 271_272insT / C91fsX95 / -
BBS10 / exon2 / 273C>G / C91W / -
BBS10 / exon2 / 424G>A / D142N / -
BBS10 / exon2 / 509T>C / L170S / -
BBS10 / exon2 / 585T>G / C195W / -
BBS10 / exon2 / 590A>G / Y197C / -
BBS10 / exon2 / 594_596delTTT / F199del / -
BBS10 / exon2 / 687delT / V230fsX236 / -
BBS10 / exon2 / 719T>G / V240G / -
BBS10 / exon2 / 724delC / Q242fsX258 / -
BBS10 / exon2 / 728_731delAAGA / K243fsX258 / -
BBS10 / exon2 / 821_822insGGATCAGA / F275fsX281 / -
BBS10 / exon2 / 909_912delTCAG / S303fsX305 / -
BBS10 / exon2 / 924G>T / L308F / -
BBS10 / exon2 / 931T>G / S311A / -
BBS10 / exon2 / 323T>G / Y321X / -
BBS10 / exon2 / 986C>T / S329L / -
BBS10 / exon2 / 1043_1045delTT / L348fsX360 / -
BBS10 / exon2 / 1088C>T / P363L / -
BBS10 / exon2 / 1101_1102delGGinsT / L367fsX368 / -
BBS10 / exon2 / 1241T>C / L414S / -
BBS10 / exon2 / 1420_1432delGCAGAGAACAAAG / A474fsX483 / -
BBS10 / exon2 / 1616C>T / P539L / rs35676114
BBS10 / exon2 / 1631A>G / N544S / rs34737974
BBS10 / exon2 / 1677delC / Y559fsX576 / -
BBS10 / exon2 / 1736A>G / K579R / -
BBS10 / exon2 / 1838A>G / Y613C / -
BBS10 / exon2 / 2030G>T / G677V / -
BBS10 / exon2 / 2065A>C / T689P / -
BBS10 / exon2 / 2118_2119delTG / V707fsX708 / -
BBS12 / exon2 / 372delTT / F372fsX373 / -
BBS12 / exon2 / 322C>T / P108L / -
PHF6 / intron1 / IVS1-131G/T / intronic / rs12836503
PHF6 / exon2 / 2T>C / M1T / -
PHF6 / exon2 / 22A>T / K8X / -
PHF6 / exon2 / 27_28insA / G10fsX21 / -
PHF6 / exon2 / 134G>A / C45Y / -
PHF6 / exon2 / IVS2-8A>G / M46fs (del ex3) / -
PHF6 / exon4 / 296G>T / C99F / -
PHF6 / exon7 / 686A>G / H229R / -
PHF6 / exon7 / 700A>G / K234E / -
PHF6 / exon8 / 769A>G / R257G / -
PHF6 / exon9 / 940A>G / I314V / -
PHF6 / exon10 / 999_1001delTGA / D333del / -
PHF6 / exon10 / 1024C>T / R342X / -
PHF6 / 3'UTR / 3182G/A / 3'UTR / rs6638230
PHF6 / 3'UTR / 4653T/G / 3'UTR / rs12846482
PHF6 / 3'UTR / 4759+34T/C / 3'downstream / rs17324657
ALMS1 / exon5 / 1177C/T / R393C / rs3813227
ALMS1 / exon6 / 1270G>A / V424I / -
ALMS1 / exon8 / 1735delA / R579fs*22 / -
ALMS1 / exon8 / 1769T>A / L590X / -
ALMS1 / exon8 / 2141delCT / S714fs / -
ALMS1 / exon8 / 2164A>T / K722X / -
ALMS1 / exon8 / 2179insT / Y727fs / -
ALMS1 / exon8 / 2225insA / T742Nfs*2 / -
ALMS1 / exon8 / 3425C>G / S1142X / -
ALMS1 / exon8 / 4937C>A / S1646X / -
ALMS1 / exon8 / 5154G>C / K1718N / rs45621233
ALMS1 / exon8 / 5283delA / S1762Ifs*24 / -
ALMS1 / exon8 / 6294_6295delCA / H2098fs*15 / -
ALMS1 / exon8 / 6305C>A / S2102X / -
ALMS1 / exon8 / 6305C>T / S2102L / rs28730854
ALMS1 / exon8 / 6571delTCAC / S2191fs / -
ALMS1 / exon8 / 6590delA / K2197fs / -
ALMS1 / exon8 / 6648T>G / S2216R / rs45588931
ALMS1 / exon8 / 6800T>A / L2276X / -
ALMS1 / exon8 / 7132insA / T2378fs / -
ALMS1 / exon8 / 7304_7305delAG / E2435fs / -
ALMS1 / exon8 / 7373C>T / T2458I / rs45494894
ALMS1 / exon8 / 7374_7375delAG / T2458del / -
ALMS1 / exon8 / 7534C>T / R2512X / -
ALMS1 / exon10 / 7765C>T / R2589W / rs45544032
ALMS1 / exon10 / 7942C>T / Q2648X / -
ALMS1 / exon10 / 8008C>T / R2670X / -
ALMS1 / exon10 / 8039G>A / W2680X / -
ALMS1 / exon10 / 8045C>G / S2682X / -
ALMS1 / exon10 / 8177_8187del / C2726fs / -
ALMS1 / exon10 / 8164C>T / R2722X / -
ALMS1 / exon10 / 8315delC / P2772fs / -
ALMS1 / exon10 / 8506G>T / E2836X / -
ALMS1 / exon10 / 8033A/C / D2678A / rs2017119
ALMS1 / exon10 / 8383C>T / Gln2795X / -
ALMS1 / exon10 / 8395insA / fs6 / -
ALMS1 / exon10 / 8656C>T / R2886X / -
ALMS1 / exon10 / 8728C>T / Q2910X / -
ALMS1 / exon10 / 8782C>T / R2928X / -
ALMS1 / exon10 / 8938C>T / Q2980X / -
ALMS1 / exon10 / 8987T>G / V2996G / rs45552033
ALMS1 / exon10 / 9001C>T / Q3001X / -
ALMS1 / exon10 / 9011_9021del / P3004fs / -
ALMS1 / exon10 / 9163A>T / K3055X / -
ALMS1 / exon10 / 9194T>G / L3065X / -
ALMS1 / exon10 / 9199G>T / E3067X / -
ALMS1 / exon10 / 9254delA / N3085fs / -
ALMS1 / exon10 / 9328C>T / Q3110X / -
ALMS1 / exon10 / 9517G>T / E3173X / -
ALMS1 / exon10 / 9541C>T / R3181X / -
ALMS1 / exon10 / 9541C>G / R3181G / -
ALMS1 / exon12 / 9901_9902insC / S3301fs / -
ALMS1 / exon16 / 10483C>T / Q3495X / -
ALMS1 / exon16 / 10483delC / Q3495Kfs*14 / -
ALMS1 / exon16 / 10535ins(n)19 / fs7 / -
ALMS1 / exon16 / 10609delGAinsT / fs5 / -
ALMS1 / exon16 / 10499A>T / E3500V / rs45567331
ALMS1 / exon16 / 10535G>A / W3512X / -
ALMS1 / exon16 / 10549C>T / Q3517X / -
ALMS1 / exon16 / 10568_10569delAT / H3523fs / -
ALMS1 / exon16 / 10579_10580delAT / M3527fs / -
ALMS1 / exon16 / 10614G>A / K3538K / -
ALMS1 / exon16 / 10674_10677delAGAA / E3559fs / -
ALMS1 / exon16 / 10753C>T / Q3585X / -
ALMS1 / exon16 / 10775delC / T3592fs / -
ALMS1 / exon16 / 10790_10791delTG / V3597fs / -
ALMS1 / exon16 / 10825C>T / R3609X / -
ALMS1 / exon16 / 10831_10832delAG / R3611fs / -
ALMS1 / exon16 / 10843_10844delCA / Q3615fs / -
ALMS1 / exon16 / 10849G>T / E3617X / -
ALMS1 / exon16 / 10885C>T / R3629X / -
ALMS1 / exon16 / 10945G>T / E3649X / -
ALMS1 / exon16 / 10975C>T / R3659X / -
ALMS1 / exon16 / 10992G>A / W3664X / -
ALMS1 / exon16 / 11005C>T / Q3669X / -
ALMS1 / exon16 / 11080A>T / K3694X / -
ALMS1 / exon16 / 11107C>T / R3703X / -
ALMS1 / exon16 / 11116_11135del / R3706fs / -
ALMS1 / exon16 / 11207C>A / S3736X / -
ALMS1 / exon16 / 11313_11316delTAGA / D3771fs / -
ALMS1 / exon16 / 11314insA / R3772fs / -
ALMS1 / exon16 / 11316_11319delAGAG / R3772fs / -
ALMS1 / exon16 / 11385delT / F3795fs / -
ALMS1 / exon16 / 11416C>T / R3806X / -
ALMS1 / exon16 / 11449C>T / E3817X / -
ALMS1 / exon16 / 11460C>G / Y3820X / -
ALMS1 / exon17 / 11644C>T / H3882Y / -
ALMS1 / exon17 / 11663T>C / I3888T / rs45630562
ALMS1 / exon18 / 11726delC / T3909Ifs*18 / -
ALMS1 / exon18 / 11856delC / N3952fs / -
ALMS1 / exon20 / 12178C>T / L4060L / rs1052162
GNAS1 / exon3 / 144-145insT / fs3 / -
GNAS1 / exon3 / 160A>G / S54G / -
GNAS1 / exon3 / 191A>C / H64P / -
GNAS1 / exon5 / 275T>A / V92E / -
GNAS1 / exon5 / 275-312+8del43 / fs4 / -
GNAS1 / exon5 / 296T>C / L99P / -
GNAS1 / exon5 / 298delAAAGAGGCinsGT / fs16 / -
GNAS1 / exon5 / 299A>T / K100I / -
GNAS1 / exon5 / 301_302delGA / fs5 / -
GNAS1 / exon5 / 305C>T / A102V / -
GNAS1 / exon5 / 305C>A / A102E / -
GNAS1 / exon5 / 308T>C / I103T / -
GNAS1 / exon6 / 317T>C / I106T / -
ALMS1 / exon 8 / 5574_5575delTG / fs8
ALMS1 / exon 9 / 7574_7587delATTGTGGATACTCC / fs9
GNAS1 / exon6 / 348delC / fs6 / -
GNAS1 / exon6 / 393C>T / I131I / rs7121
GNAS1 / exon6 / 395T>C / L132P / -
GNAS1 / intron6 / 432+1G>A / intronic / -
GNAS1 / exon7 / 473_474insG / fs7 / -
GNAS1 / exon7 / 478C>T / R160C / -
GNAS1 / exon7 / 489C>G / Y163X / -
GNAS1 / exon7 / 493C>T / R165C / -
GNAS1 / intron7 / IVS7-269A/G / intronic / rs234629
GNAS1 / exon8 / 565_568delGACT* / fs8 / -
GNAS1 / exon9 / 617_618delGA / fs9 / -
GNAS1 / exon9 / 640_643delGTGG / fs10 / -
GNAS1 / exon10 / 692G>A / R231H / -
GNAS1 / exon11 / 750C>G / S250R / -
GNAS1 / exon11 / 772C>T / R258W / -
GNAS1 / exon11 / 776A>T / E259V / -
GNAS1 / exon11 / 790A>C / N264H / -
GNAS1 / exon11 / 799_800insC / fs11 / -
GNAS1 / exon11 / 814delC / fs12 / -
GNAS1 / intron11 / 839+1G>C / intronic / -
GNAS1 / exon12 / 845T>C / L282P / -
GNAS1 / exon12 / 878A>G / K293R / -
GNAS1 / exon12 / 880C>T / Q294X / -
GNAS1 / exon12 / 909_910insT / fs13 / -
GNAS1 / exon13 / 985G>A / G329R / -
GNAS1 / exon13 / 1024C>T / R342X / -
GNAS1 / exon14 / 1106_1107delCT / fs14 / -
GNAS1 / exon14 / 1107_1108delTG / fs15 / -
GNAS1 / exon14 / 1154G>A / R385H / -
GNAS1 / exon14 / 1173delCGAGCTGCTCTAAGA / fs17 / -
ALMS1 / exon16 / 10780C>T / Q3594X / -
ALMS1 / exon10 / 8224C>T / Q2742X / -
ALMS1 / exon16 / 11414delG / R3805fsX28 / -
ALMS1 / exon8 / 5869delCAGA / P1957fsX1965 / -
ALMS1 / intron18 / IVS18-2A>T / intronic / -

Table 2. Likely polymorphisms detected by the BBS-ALMS1 mutation array.