ClinVar Miner

List of variants in gene COL27A1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1924
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HGVS dbSNP gnomAD frequency
NM_032888.4(COL27A1):c.3786T>C (p.Tyr1262=) rs2787330 0.79146
NM_032888.4(COL27A1):c.3570T>C (p.Leu1190=) rs4143245 0.41634
NM_032888.4(COL27A1):c.4476+18A>G rs1249738 0.40945
NM_032888.4(COL27A1):c.4846-17G>A rs1546048 0.37018
NM_032888.4(COL27A1):c.1831A>T (p.Ile611Phe) rs2567705 0.33152
NM_032888.4(COL27A1):c.2745C>T (p.Ile915=) rs2014134 0.32914
NM_032888.4(COL27A1):c.3718-19G>T rs2636879 0.32501
NM_032888.4(COL27A1):c.4872+17C>G rs10817586 0.31217
NM_032888.4(COL27A1):c.1610T>C (p.Ile537Thr) rs2808770 0.27554
NM_032888.4(COL27A1):c.1902C>T (p.Gly634=) rs2808771 0.27430
NM_032888.4(COL27A1):c.359A>G (p.Gln120Arg) rs2567706 0.27032
NM_032888.4(COL27A1):c.265G>A (p.Val89Ile) rs2567707 0.21138
NM_032888.4(COL27A1):c.2224-20C>T rs41312204 0.10098
NM_032888.4(COL27A1):c.2334C>T (p.Gly778=) rs34350265 0.07313
NM_032888.4(COL27A1):c.1932A>G (p.Leu644=) rs3810930 0.05539
NM_032888.4(COL27A1):c.4746G>A (p.Ser1582=) rs73656040 0.05318
NM_032888.4(COL27A1):c.5422A>G (p.Met1808Val) rs3736252 0.04628
NM_032888.4(COL27A1):c.2169+12A>G rs41306490 0.04609
NM_032888.4(COL27A1):c.2835+20T>A rs41305461 0.03667
NM_032888.4(COL27A1):c.4368+16C>T rs1249739 0.02982
NM_032888.4(COL27A1):c.2766C>T (p.Gly922=) rs6478073 0.02846
NM_032888.4(COL27A1):c.5154C>T (p.Ile1718=) rs1388095 0.02258
NM_032888.4(COL27A1):c.4965G>A (p.Val1655=) rs1249762 0.02171
NM_032888.4(COL27A1):c.3576T>C (p.Gly1192=) rs34412510 0.02042
NM_032888.4(COL27A1):c.793G>A (p.Ala265Thr) rs34578955 0.01748
NM_032888.4(COL27A1):c.2781+13C>T rs73564683 0.01695
NM_032888.4(COL27A1):c.3888G>A (p.Pro1296=) rs113772516 0.01491
NM_032888.4(COL27A1):c.178G>A (p.Gly60Arg) rs74339956 0.01473
NM_032888.4(COL27A1):c.3878C>T (p.Thr1293Met) rs116496505 0.01423
NM_032888.4(COL27A1):c.939G>A (p.Ala313=) rs35739679 0.01343
NM_032888.4(COL27A1):c.3195+8G>A rs75890035 0.01150
NM_032888.4(COL27A1):c.258G>A (p.Thr86=) rs79824663 0.01124
NM_032888.4(COL27A1):c.3717+19T>A rs111806113 0.01051
NM_032888.4(COL27A1):c.815T>C (p.Leu272Ser) rs151023386 0.00711
NM_032888.4(COL27A1):c.408C>T (p.Val136=) rs146589272 0.00622
NM_032888.4(COL27A1):c.2115G>A (p.Pro705=) rs10982098 0.00603
NM_032888.4(COL27A1):c.785C>A (p.Ser262Tyr) rs148242800 0.00577
NM_032888.4(COL27A1):c.3448-13C>T rs74964165 0.00536
NM_032888.4(COL27A1):c.1617G>A (p.Ser539=) rs145936685 0.00534
NM_032888.4(COL27A1):c.573C>T (p.Leu191=) rs138434112 0.00533
NM_032888.4(COL27A1):c.1045C>T (p.Arg349Cys) rs34973417 0.00522
NM_032888.4(COL27A1):c.2466+15G>T rs72762630 0.00443
NM_032888.4(COL27A1):c.2620-18G>C rs138043453 0.00389
NM_032888.4(COL27A1):c.5058C>T (p.Pro1686=) rs41278651 0.00381
NM_032888.4(COL27A1):c.2295C>T (p.Phe765=) rs138060609 0.00338
NM_032888.4(COL27A1):c.3972A>T (p.Gly1324=) rs147328458 0.00286
NM_032888.4(COL27A1):c.1854G>A (p.Thr618=) rs114789352 0.00277
NM_032888.4(COL27A1):c.2988G>A (p.Met996Ile) rs143876527 0.00271
NM_032888.4(COL27A1):c.1310C>T (p.Pro437Leu) rs139358226 0.00258
NM_032888.4(COL27A1):c.2980-3T>C rs7045877 0.00257
NM_032888.4(COL27A1):c.3250-18G>A rs190841467 0.00250
NM_032888.4(COL27A1):c.4701+17C>T rs200938073 0.00222
NM_032888.4(COL27A1):c.1655G>A (p.Arg552Gln) rs148833602 0.00185
NM_032888.4(COL27A1):c.370C>G (p.Leu124Val) rs149948860 0.00185
NM_032888.4(COL27A1):c.5063G>A (p.Arg1688Gln) rs149629527 0.00184
NM_032888.4(COL27A1):c.3610-18T>G rs374625430 0.00180
NM_032888.4(COL27A1):c.5034G>A (p.Thr1678=) rs150455755 0.00178
NM_032888.4(COL27A1):c.2858C>T (p.Pro953Leu) rs41277743 0.00177
NM_032888.4(COL27A1):c.1455T>C (p.Thr485=) rs148709250 0.00163
NM_032888.4(COL27A1):c.619G>A (p.Val207Ile) rs143912297 0.00163
NM_032888.4(COL27A1):c.3535C>G (p.Gln1179Glu) rs114770711 0.00152
NM_032888.4(COL27A1):c.840G>T (p.Gly280=) rs139782831 0.00147
NM_032888.4(COL27A1):c.3702C>T (p.Gly1234=) rs62640054 0.00111
NM_032888.4(COL27A1):c.3715C>T (p.Arg1239Trp) rs143724625 0.00108
NM_032888.4(COL27A1):c.3142-16T>C rs372385762 0.00100
NM_032888.4(COL27A1):c.397G>A (p.Gly133Ser) rs146793976 0.00091
NM_032888.4(COL27A1):c.2071-13C>T rs376995958 0.00085
NM_032888.4(COL27A1):c.276C>T (p.Ala92=) rs142192832 0.00085
NM_032888.4(COL27A1):c.2120G>A (p.Arg707Gln) rs181825632 0.00074
NM_032888.4(COL27A1):c.2268+7G>A rs200504966 0.00073
NM_032888.4(COL27A1):c.3281G>A (p.Arg1094Gln) rs140192759 0.00063
NM_032888.4(COL27A1):c.3524C>A (p.Thr1175Asn) rs139237104 0.00063
NM_032888.4(COL27A1):c.2646C>T (p.Pro882=) rs148588078 0.00061
NM_032888.4(COL27A1):c.4831C>A (p.Arg1611=) rs139690392 0.00057
NM_032888.4(COL27A1):c.4904C>T (p.Thr1635Met) rs149110795 0.00055
NM_032888.4(COL27A1):c.3092A>G (p.His1031Arg) rs7038559 0.00054
NM_032888.4(COL27A1):c.405G>A (p.Thr135=) rs147026086 0.00053
NM_032888.4(COL27A1):c.5168A>G (p.Asn1723Ser) rs146977141 0.00052
NM_032888.4(COL27A1):c.1032T>C (p.Ser344=) rs188197626 0.00051
NM_032888.4(COL27A1):c.152G>A (p.Arg51Gln) rs141549766 0.00051
NM_032888.4(COL27A1):c.5217+12C>T rs141796506 0.00045
NM_032888.4(COL27A1):c.2301G>A (p.Leu767=) rs148061840 0.00043
NM_032888.4(COL27A1):c.3690C>T (p.Pro1230=) rs79011279 0.00043
NM_032888.4(COL27A1):c.364C>T (p.Arg122Cys) rs372265305 0.00041
NM_032888.4(COL27A1):c.947G>A (p.Gly316Asp) rs113786411 0.00041
NM_032888.4(COL27A1):c.3777C>G (p.Ala1259=) rs182885514 0.00040
NM_032888.4(COL27A1):c.1076T>C (p.Ile359Thr) rs145777803 0.00039
NM_032888.4(COL27A1):c.36A>G (p.Thr12=) rs982589829 0.00039
NM_032888.4(COL27A1):c.4255G>A (p.Val1419Ile) rs138242713 0.00039
NM_032888.4(COL27A1):c.2724C>T (p.Pro908=) rs142957409 0.00038
NM_032888.4(COL27A1):c.4728C>T (p.Leu1576=) rs141655747 0.00036
NM_032888.4(COL27A1):c.1163C>T (p.Thr388Ile) rs150803564 0.00033
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) rs140950220 0.00033
NM_032888.4(COL27A1):c.4836C>T (p.Pro1612=) rs142505089 0.00033
NM_032888.4(COL27A1):c.133+9C>G rs147411821 0.00031
NM_032888.4(COL27A1):c.1829C>T (p.Ser610Leu) rs144786117 0.00031
NM_032888.4(COL27A1):c.2323-8C>T rs376355086 0.00031
NM_032888.4(COL27A1):c.2524C>T (p.Leu842=) rs149837237 0.00031
NM_032888.4(COL27A1):c.863C>A (p.Pro288His) rs376805833 0.00030
NM_032888.4(COL27A1):c.893C>T (p.Thr298Ile) rs148990468 0.00030
NM_032888.4(COL27A1):c.1602G>C (p.Lys534Asn) rs142652014 0.00029
NM_032888.4(COL27A1):c.63-4C>A rs200654328 0.00028
NM_032888.4(COL27A1):c.3196-20G>A rs368497374 0.00027
NM_032888.4(COL27A1):c.2113C>T (p.Pro705Ser) rs139039113 0.00026
NM_032888.4(COL27A1):c.2856G>A (p.Gly952=) rs140149941 0.00026
NM_032888.4(COL27A1):c.3934-6C>G rs374167148 0.00026
NM_032888.4(COL27A1):c.428G>A (p.Arg143His) rs377686014 0.00025
NM_032888.4(COL27A1):c.612G>A (p.Pro204=) rs147140199 0.00025
NM_032888.4(COL27A1):c.4320C>T (p.Ile1440=) rs201732921 0.00021
NM_032888.4(COL27A1):c.4939-7G>A rs369108345 0.00021
NM_032888.4(COL27A1):c.3276G>A (p.Pro1092=) rs140175927 0.00019
NM_032888.4(COL27A1):c.2169+20C>T rs202119417 0.00017
NM_032888.4(COL27A1):c.4494C>T (p.Pro1498=) rs145117909 0.00017
NM_032888.4(COL27A1):c.2444C>T (p.Pro815Leu) rs745566747 0.00016
NM_032888.4(COL27A1):c.2832C>T (p.Pro944=) rs146710122 0.00016
NM_032888.4(COL27A1):c.399C>A (p.Gly133=) rs140539074 0.00016
NM_032888.4(COL27A1):c.4476+20A>C rs530838223 0.00016
NM_032888.4(COL27A1):c.1502C>T (p.Thr501Ile) rs576505138 0.00015
NM_032888.4(COL27A1):c.3056C>A (p.Pro1019His) rs529922047 0.00015
NM_032888.4(COL27A1):c.5177A>G (p.His1726Arg) rs200848931 0.00015
NM_032888.4(COL27A1):c.1653C>T (p.Pro551=) rs200891723 0.00014
NM_032888.4(COL27A1):c.4967T>C (p.Leu1656Pro) rs145069844 0.00014
NM_032888.4(COL27A1):c.5197A>G (p.Lys1733Glu) rs148068880 0.00014
NM_032888.4(COL27A1):c.459C>T (p.Asp153=) rs143341894 0.00013
NM_032888.4(COL27A1):c.570A>G (p.Ala190=) rs138532151 0.00013
NM_032888.4(COL27A1):c.3064G>A (p.Val1022Met) rs141446597 0.00012
NM_032888.4(COL27A1):c.672C>T (p.Val224=) rs374669935 0.00012
NM_032888.4(COL27A1):c.739G>A (p.Gly247Arg) rs144068722 0.00012
NM_032888.4(COL27A1):c.3716G>A (p.Arg1239Gln) rs148109242 0.00011
NM_032888.4(COL27A1):c.932A>G (p.His311Arg) rs374532154 0.00011
NM_032888.4(COL27A1):c.938C>T (p.Ala313Val) rs779082252 0.00011
NM_032888.4(COL27A1):c.20G>T (p.Arg7Leu) rs558566848 0.00010
NM_032888.4(COL27A1):c.304C>T (p.Leu102=) rs369829082 0.00010
NM_032888.4(COL27A1):c.3262C>A (p.Pro1088Thr) rs146162741 0.00010
NM_032888.4(COL27A1):c.4539G>A (p.Thr1513=) rs138940294 0.00010
NM_032888.4(COL27A1):c.4761G>A (p.Pro1587=) rs144269050 0.00010
NM_032888.4(COL27A1):c.5517C>T (p.Asp1839=) rs144613533 0.00010
NM_032888.4(COL27A1):c.133+17T>C rs764327380 0.00009
NM_032888.4(COL27A1):c.1782G>A (p.Pro594=) rs541446954 0.00009
NM_032888.4(COL27A1):c.1890G>A (p.Lys630=) rs372788077 0.00009
NM_032888.4(COL27A1):c.2031C>T (p.Asp677=) rs375942807 0.00009
NM_032888.4(COL27A1):c.2466+10T>C rs374540360 0.00009
NM_032888.4(COL27A1):c.2661G>A (p.Lys887=) rs768337703 0.00009
NM_032888.4(COL27A1):c.2865G>C (p.Gly955=) rs138017693 0.00009
NM_032888.4(COL27A1):c.3747C>T (p.Gly1249=) rs200162485 0.00009
NM_032888.4(COL27A1):c.4968G>A (p.Leu1656=) rs138859831 0.00009
NM_032888.4(COL27A1):c.989G>A (p.Ser330Asn) rs577008971 0.00009
NM_032888.4(COL27A1):c.1635C>T (p.Ala545=) rs552089615 0.00008
NM_032888.4(COL27A1):c.2237C>T (p.Pro746Leu) rs745396604 0.00008
NM_032888.4(COL27A1):c.3568C>T (p.Leu1190Phe) rs748068839 0.00008
NM_032888.4(COL27A1):c.4261-5C>T rs1022357631 0.00008
NM_032888.4(COL27A1):c.4682G>A (p.Arg1561Gln) rs748090537 0.00008
NM_032888.4(COL27A1):c.961C>T (p.Pro321Ser) rs781383926 0.00008
NM_032888.4(COL27A1):c.1952G>A (p.Arg651His) rs376853468 0.00007
NM_032888.4(COL27A1):c.2835+6A>G rs749800594 0.00007
NM_032888.4(COL27A1):c.3933+10T>A rs752657028 0.00007
NM_032888.4(COL27A1):c.722C>T (p.Thr241Met) rs148448277 0.00007
NM_032888.4(COL27A1):c.1030T>A (p.Ser344Thr) rs183475885 0.00006
NM_032888.4(COL27A1):c.1052C>T (p.Ala351Val) rs142594229 0.00006
NM_032888.4(COL27A1):c.1056C>T (p.Ala352=) rs763626897 0.00006
NM_032888.4(COL27A1):c.1159C>A (p.Pro387Thr) rs767888747 0.00006
NM_032888.4(COL27A1):c.117C>A (p.Thr39=) rs200096843 0.00006
NM_032888.4(COL27A1):c.1182T>C (p.Ser394=) rs375425742 0.00006
NM_032888.4(COL27A1):c.1302G>A (p.Arg434=) rs777397773 0.00006
NM_032888.4(COL27A1):c.1375C>T (p.Arg459Trp) rs139974066 0.00006
NM_032888.4(COL27A1):c.1530A>G (p.Pro510=) rs756789715 0.00006
NM_032888.4(COL27A1):c.1620A>G (p.Glu540=) rs758895314 0.00006
NM_032888.4(COL27A1):c.2073T>C (p.Gly691=) rs1222854553 0.00006
NM_032888.4(COL27A1):c.2157C>T (p.His719=) rs140601688 0.00006
NM_032888.4(COL27A1):c.2654G>A (p.Arg885Gln) rs199597099 0.00006
NM_032888.4(COL27A1):c.2815C>T (p.Arg939Cys) rs200705000 0.00006
NM_032888.4(COL27A1):c.3033+7G>A rs780731796 0.00006
NM_032888.4(COL27A1):c.4350C>T (p.Asp1450=) rs371179881 0.00006
NM_032888.4(COL27A1):c.4440C>T (p.Ala1480=) rs367640996 0.00006
NM_032888.4(COL27A1):c.456C>T (p.His152=) rs757275050 0.00006
NM_032888.4(COL27A1):c.786C>T (p.Ser262=) rs201345287 0.00006
NM_032888.4(COL27A1):c.882C>T (p.Pro294=) rs776884092 0.00006
NM_032888.4(COL27A1):c.2547C>T (p.Pro849=) rs144760825 0.00005
NM_032888.4(COL27A1):c.2961G>A (p.Pro987=) rs376303544 0.00005
NM_032888.4(COL27A1):c.345C>T (p.Phe115=) rs749400167 0.00005
NM_032888.4(COL27A1):c.391C>T (p.Leu131Phe) rs111969026 0.00005
NM_032888.4(COL27A1):c.396C>T (p.Pro132=) rs753062733 0.00005
NM_032888.4(COL27A1):c.4958G>T (p.Arg1653Leu) rs751681660 0.00005
NM_032888.4(COL27A1):c.5202C>A (p.Pro1734=) rs766405367 0.00005
NM_032888.4(COL27A1):c.5430C>T (p.Gly1810=) rs780740644 0.00005
NM_032888.4(COL27A1):c.702G>A (p.Lys234=) rs546860616 0.00005
NM_032888.4(COL27A1):c.787G>A (p.Asp263Asn) rs200344636 0.00005
NM_032888.4(COL27A1):c.993C>T (p.Asn331=) rs562855199 0.00005
NM_032888.4(COL27A1):c.1170A>G (p.Lys390=) rs372140058 0.00004
NM_032888.4(COL27A1):c.1413G>A (p.Pro471=) rs762347705 0.00004
NM_032888.4(COL27A1):c.144C>T (p.Ile48=) rs747870284 0.00004
NM_032888.4(COL27A1):c.1495A>G (p.Arg499Gly) rs200519980 0.00004
NM_032888.4(COL27A1):c.1518G>A (p.Thr506=) rs139976325 0.00004
NM_032888.4(COL27A1):c.1669C>T (p.Leu557Phe) rs956892736 0.00004
NM_032888.4(COL27A1):c.1784C>T (p.Ala595Val) rs756393374 0.00004
NM_032888.4(COL27A1):c.2160C>T (p.Pro720=) rs146410522 0.00004
NM_032888.4(COL27A1):c.241C>T (p.Arg81Trp) rs143398547 0.00004
NM_032888.4(COL27A1):c.2427A>G (p.Glu809=) rs377387408 0.00004
NM_032888.4(COL27A1):c.2457C>T (p.Pro819=) rs748462871 0.00004
NM_032888.4(COL27A1):c.2467-5C>T rs770121086 0.00004
NM_032888.4(COL27A1):c.2482T>C (p.Leu828=) rs771526098 0.00004
NM_032888.4(COL27A1):c.2535C>A (p.Ser845Arg) rs751042704 0.00004
NM_032888.4(COL27A1):c.2566-10G>A rs372617716 0.00004
NM_032888.4(COL27A1):c.2736A>C (p.Pro912=) rs769151275 0.00004
NM_032888.4(COL27A1):c.27C>G (p.Ala9=) rs759255537 0.00004
NM_032888.4(COL27A1):c.2808G>A (p.Pro936=) rs753347288 0.00004
NM_032888.4(COL27A1):c.2877G>A (p.Leu959=) rs761767872 0.00004
NM_032888.4(COL27A1):c.2881-17C>A rs369216744 0.00004
NM_032888.4(COL27A1):c.296C>T (p.Ala99Val) rs150759476 0.00004
NM_032888.4(COL27A1):c.2995A>G (p.Ile999Val) rs760730049 0.00004
NM_032888.4(COL27A1):c.303G>A (p.Val101=) rs375672077 0.00004
NM_032888.4(COL27A1):c.3195+7C>T rs772132287 0.00004
NM_032888.4(COL27A1):c.3448-12G>A rs559285602 0.00004
NM_032888.4(COL27A1):c.3492C>T (p.Ala1164=) rs145938099 0.00004
NM_032888.4(COL27A1):c.3493G>A (p.Gly1165Arg) rs746974047 0.00004
NM_032888.4(COL27A1):c.3681C>T (p.Asp1227=) rs1298694490 0.00004
NM_032888.4(COL27A1):c.3772-17C>A rs367589669 0.00004
NM_032888.4(COL27A1):c.3772-9C>T rs765939200 0.00004
NM_032888.4(COL27A1):c.417C>T (p.Leu139=) rs369477310 0.00004
NM_032888.4(COL27A1):c.447C>T (p.Leu149=) rs764478171 0.00004
NM_032888.4(COL27A1):c.4643C>T (p.Pro1548Leu) rs750599765 0.00004
NM_032888.4(COL27A1):c.4644G>A (p.Pro1548=) rs758523198 0.00004
NM_032888.4(COL27A1):c.5033C>T (p.Thr1678Met) rs766329166 0.00004
NM_032888.4(COL27A1):c.5190G>A (p.Thr1730=) rs565315568 0.00004
NM_032888.4(COL27A1):c.5218-5T>C rs771892998 0.00004
NM_032888.4(COL27A1):c.665C>T (p.Thr222Met) rs372325271 0.00004
NM_032888.4(COL27A1):c.1041G>C (p.Thr347=) rs774426205 0.00003
NM_032888.4(COL27A1):c.1289C>T (p.Pro430Leu) rs193166789 0.00003
NM_032888.4(COL27A1):c.1608C>T (p.Pro536=) rs939116118 0.00003
NM_032888.4(COL27A1):c.171G>A (p.Thr57=) rs775896019 0.00003
NM_032888.4(COL27A1):c.1998C>T (p.Pro666=) rs767404590 0.00003
NM_032888.4(COL27A1):c.2097C>T (p.Ser699=) rs570640809 0.00003
NM_032888.4(COL27A1):c.216G>A (p.Ser72=) rs201660579 0.00003
NM_032888.4(COL27A1):c.231G>A (p.Thr77=) rs190770493 0.00003
NM_032888.4(COL27A1):c.2323-15G>C rs554464911 0.00003
NM_032888.4(COL27A1):c.235C>T (p.Arg79Trp) rs747530985 0.00003
NM_032888.4(COL27A1):c.249G>A (p.Gln83=) rs372211916 0.00003
NM_032888.4(COL27A1):c.2620-7C>A rs767956787 0.00003
NM_032888.4(COL27A1):c.264C>T (p.Thr88=) rs201917514 0.00003
NM_032888.4(COL27A1):c.2682C>T (p.Val894=) rs543598704 0.00003
NM_032888.4(COL27A1):c.2709C>T (p.Pro903=) rs776782702 0.00003
NM_032888.4(COL27A1):c.2859G>T (p.Pro953=) rs747181763 0.00003
NM_032888.4(COL27A1):c.2916C>T (p.Pro972=) rs372764232 0.00003
NM_032888.4(COL27A1):c.3084G>A (p.Ser1028=) rs769992108 0.00003
NM_032888.4(COL27A1):c.323G>A (p.Arg108Gln) rs764962397 0.00003
NM_032888.4(COL27A1):c.3303T>G (p.Ala1101=) rs760003621 0.00003
NM_032888.4(COL27A1):c.3771+9C>A rs764002672 0.00003
NM_032888.4(COL27A1):c.3810C>T (p.Gly1270=) rs757677417 0.00003
NM_032888.4(COL27A1):c.3893G>T (p.Arg1298Leu) rs201438078 0.00003
NM_032888.4(COL27A1):c.4285C>T (p.Arg1429Trp) rs200170613 0.00003
NM_032888.4(COL27A1):c.441C>T (p.Phe147=) rs575113764 0.00003
NM_032888.4(COL27A1):c.4588G>A (p.Asp1530Asn) rs762106089 0.00003
NM_032888.4(COL27A1):c.4629C>T (p.Phe1543=) rs764545546 0.00003
NM_032888.4(COL27A1):c.4735C>T (p.Leu1579=) rs369039093 0.00003
NM_032888.4(COL27A1):c.5107+18C>T rs767762396 0.00003
NM_032888.4(COL27A1):c.5208G>A (p.Thr1736=) rs563579546 0.00003
NM_032888.4(COL27A1):c.5571G>A (p.Ala1857=) rs576834803 0.00003
NM_032888.4(COL27A1):c.1026C>T (p.Gly342=) rs762892390 0.00002
NM_032888.4(COL27A1):c.1101C>T (p.Ser367=) rs777844587 0.00002
NM_032888.4(COL27A1):c.1119G>A (p.Ser373=) rs200912572 0.00002
NM_032888.4(COL27A1):c.1290G>A (p.Pro430=) rs201849595 0.00002
NM_032888.4(COL27A1):c.134-17T>C rs367798942 0.00002
NM_032888.4(COL27A1):c.1401T>C (p.His467=) rs770579353 0.00002
NM_032888.4(COL27A1):c.177C>T (p.Ala59=) rs138977561 0.00002
NM_032888.4(COL27A1):c.1963-7C>G rs773244793 0.00002
NM_032888.4(COL27A1):c.2250C>T (p.Pro750=) rs373974606 0.00002
NM_032888.4(COL27A1):c.2269-4C>T rs970715359 0.00002
NM_032888.4(COL27A1):c.2269-8T>C rs770774660 0.00002
NM_032888.4(COL27A1):c.2269-9C>G rs763162022 0.00002
NM_032888.4(COL27A1):c.2601C>T (p.Pro867=) rs760432031 0.00002
NM_032888.4(COL27A1):c.2841T>C (p.Asp947=) rs756559559 0.00002
NM_032888.4(COL27A1):c.2934+14G>C rs549785266 0.00002
NM_032888.4(COL27A1):c.295G>A (p.Ala99Thr) rs748194962 0.00002
NM_032888.4(COL27A1):c.3090T>C (p.Gly1030=) rs1351264483 0.00002
NM_032888.4(COL27A1):c.3191G>A (p.Arg1064His) rs368823650 0.00002
NM_032888.4(COL27A1):c.3225G>C (p.Gly1075=) rs758470466 0.00002
NM_032888.4(COL27A1):c.3393+8C>A rs556817433 0.00002
NM_032888.4(COL27A1):c.3406C>A (p.Pro1136Thr) rs199763065 0.00002
NM_032888.4(COL27A1):c.3473C>T (p.Pro1158Leu) rs201303864 0.00002
NM_032888.4(COL27A1):c.3554G>A (p.Arg1185Gln) rs374160108 0.00002
NM_032888.4(COL27A1):c.3669G>A (p.Leu1223=) rs745526511 0.00002
NM_032888.4(COL27A1):c.3772-7G>C rs1393466660 0.00002
NM_032888.4(COL27A1):c.3879+7A>G rs774269901 0.00002
NM_032888.4(COL27A1):c.4407C>T (p.Gly1469=) rs1043887735 0.00002
NM_032888.4(COL27A1):c.4455A>C (p.Ala1485=) rs748276652 0.00002
NM_032888.4(COL27A1):c.4683G>A (p.Arg1561=) rs370893949 0.00002
NM_032888.4(COL27A1):c.4701+10C>T rs1244792106 0.00002
NM_032888.4(COL27A1):c.4806G>A (p.Pro1602=) rs147409979 0.00002
NM_032888.4(COL27A1):c.5207C>T (p.Thr1736Met) rs372335521 0.00002
NM_032888.4(COL27A1):c.522C>T (p.Cys174=) rs1350972747 0.00002
NM_032888.4(COL27A1):c.5244G>A (p.Gln1748=) rs373599694 0.00002
NM_032888.4(COL27A1):c.5265A>G (p.Leu1755=) rs756236155 0.00002
NM_032888.4(COL27A1):c.5529T>C (p.Pro1843=) rs1220510532 0.00002
NM_032888.4(COL27A1):c.62+7A>G rs755190082 0.00002
NM_032888.4(COL27A1):c.888G>A (p.Thr296=) rs973209904 0.00002
NM_032888.4(COL27A1):c.1023T>C (p.Val341=) rs780521930 0.00001
NM_032888.4(COL27A1):c.1050T>G (p.Pro350=) rs774816263 0.00001
NM_032888.4(COL27A1):c.1065A>G (p.Pro355=) rs751932068 0.00001
NM_032888.4(COL27A1):c.1071G>A (p.Gln357=) rs755426142 0.00001
NM_032888.4(COL27A1):c.1095C>T (p.Pro365=) rs1222323350 0.00001
NM_032888.4(COL27A1):c.1116T>A (p.Pro372=) rs750902736 0.00001
NM_032888.4(COL27A1):c.1200C>T (p.Ala400=) rs1256649557 0.00001
NM_032888.4(COL27A1):c.1263C>T (p.Pro421=) rs369387928 0.00001
NM_032888.4(COL27A1):c.1311G>A (p.Pro437=) rs1280331514 0.00001
NM_032888.4(COL27A1):c.133+12T>C rs1848591778 0.00001
NM_032888.4(COL27A1):c.134-9C>A rs751040547 0.00001
NM_032888.4(COL27A1):c.1545C>T (p.Ser515=) rs373483873 0.00001
NM_032888.4(COL27A1):c.1641C>T (p.Pro547=) rs1445017350 0.00001
NM_032888.4(COL27A1):c.1668C>T (p.Pro556=) rs1206581813 0.00001
NM_032888.4(COL27A1):c.1704G>A (p.Leu568=) rs750860049 0.00001
NM_032888.4(COL27A1):c.1707C>T (p.Ser569=) rs758899812 0.00001
NM_032888.4(COL27A1):c.1764G>A (p.Pro588=) rs762087400 0.00001
NM_032888.4(COL27A1):c.1773A>C (p.Val591=) rs139889452 0.00001
NM_032888.4(COL27A1):c.1785G>A (p.Ala595=) rs781558892 0.00001
NM_032888.4(COL27A1):c.1809G>A (p.Arg603=) rs774855050 0.00001
NM_032888.4(COL27A1):c.1815G>A (p.Thr605=) rs989121410 0.00001
NM_032888.4(COL27A1):c.1830G>A (p.Ser610=) rs200537997 0.00001
NM_032888.4(COL27A1):c.1833C>T (p.Ile611=) rs986333583 0.00001
NM_032888.4(COL27A1):c.1839C>T (p.His613=) rs1849150741 0.00001
NM_032888.4(COL27A1):c.186T>C (p.Pro62=) rs765454716 0.00001
NM_032888.4(COL27A1):c.1896C>T (p.Asp632=) rs774568783 0.00001
NM_032888.4(COL27A1):c.1914_1922dup (p.641LPG[3]) rs759981220 0.00001
NM_032888.4(COL27A1):c.1920G>A (p.Gly640=) rs762171990 0.00001
NM_032888.4(COL27A1):c.1962+1G>A rs1387536593 0.00001
NM_032888.4(COL27A1):c.1980T>C (p.Tyr660=) rs1382174375 0.00001
NM_032888.4(COL27A1):c.2007T>G (p.Pro669=) rs1307968839 0.00001
NM_032888.4(COL27A1):c.2058C>T (p.His686=) rs767457458 0.00001
NM_032888.4(COL27A1):c.2175G>A (p.Gln725=) rs1829908487 0.00001
NM_032888.4(COL27A1):c.2199G>C (p.Gly733=) rs531360369 0.00001
NM_032888.4(COL27A1):c.2238G>A (p.Pro746=) rs771500139 0.00001
NM_032888.4(COL27A1):c.2323-17C>T rs375296921 0.00001
NM_032888.4(COL27A1):c.2343C>A (p.Gly781=) rs1249796457 0.00001
NM_032888.4(COL27A1):c.2399C>T (p.Pro800Leu) rs150829647 0.00001
NM_032888.4(COL27A1):c.240C>A (p.Ala80=) rs776631973 0.00001
NM_032888.4(COL27A1):c.2436G>A (p.Leu812=) rs1831162626 0.00001
NM_032888.4(COL27A1):c.2490G>A (p.Pro830=) rs374233169 0.00001
NM_032888.4(COL27A1):c.24G>C (p.Gly8=) rs770480240 0.00001
NM_032888.4(COL27A1):c.2520+7A>G rs1477399215 0.00001
NM_032888.4(COL27A1):c.2532C>T (p.Gly844=) rs765915523 0.00001
NM_032888.4(COL27A1):c.2541G>A (p.Gly847=) rs1291007387 0.00001
NM_032888.4(COL27A1):c.2553G>A (p.Leu851=) rs780026251 0.00001
NM_032888.4(COL27A1):c.2667G>A (p.Gly889=) rs761565970 0.00001
NM_032888.4(COL27A1):c.2712G>A (p.Gly904=) rs761727886 0.00001
NM_032888.4(COL27A1):c.2715C>T (p.Pro905=) rs765351566 0.00001
NM_032888.4(COL27A1):c.2728-18C>T rs775858139 0.00001
NM_032888.4(COL27A1):c.2797C>T (p.Arg933Ter) rs940642841 0.00001
NM_032888.4(COL27A1):c.2892C>G (p.Gly964=) rs747879528 0.00001
NM_032888.4(COL27A1):c.2925T>C (p.Asp975=) rs762339239 0.00001
NM_032888.4(COL27A1):c.2935-8C>T rs1175513952 0.00001
NM_032888.4(COL27A1):c.2958G>A (p.Arg986=) rs1213916657 0.00001
NM_032888.4(COL27A1):c.2970G>A (p.Val990=) rs544915140 0.00001
NM_032888.4(COL27A1):c.2982A>T (p.Gly994=) rs1314384469 0.00001
NM_032888.4(COL27A1):c.300G>A (p.Leu100=) rs773468575 0.00001
NM_032888.4(COL27A1):c.3141+4A>C rs1306432842 0.00001
NM_032888.4(COL27A1):c.318C>T (p.Ser106=) rs753526489 0.00001
NM_032888.4(COL27A1):c.3192T>C (p.Arg1064=) rs1834107027 0.00001
NM_032888.4(COL27A1):c.3198C>A (p.Gly1066=) rs764581319 0.00001
NM_032888.4(COL27A1):c.3213C>T (p.Asp1071=) rs887146990 0.00001
NM_032888.4(COL27A1):c.3231A>G (p.Gln1077=) rs1834579007 0.00001
NM_032888.4(COL27A1):c.3249+1G>T rs747841271 0.00001
NM_032888.4(COL27A1):c.3249+8C>T rs1161487233 0.00001
NM_032888.4(COL27A1):c.3324C>T (p.Gly1108=) rs1172751208 0.00001
NM_032888.4(COL27A1):c.3348G>A (p.Pro1116=) rs779262299 0.00001
NM_032888.4(COL27A1):c.3378C>A (p.Gly1126=) rs748408416 0.00001
NM_032888.4(COL27A1):c.3393+9C>G rs1272045890 0.00001
NM_032888.4(COL27A1):c.3439G>T (p.Gly1147Ter) rs1328051341 0.00001
NM_032888.4(COL27A1):c.3460G>A (p.Ala1154Thr) rs757353994 0.00001
NM_032888.4(COL27A1):c.3501+9G>C rs564627616 0.00001
NM_032888.4(COL27A1):c.3534G>A (p.Glu1178=) rs1469619164 0.00001
NM_032888.4(COL27A1):c.3556-9C>A rs202138098 0.00001
NM_032888.4(COL27A1):c.3609+9C>G rs768929542 0.00001
NM_032888.4(COL27A1):c.3616del (p.Arg1206fs) rs1835450838 0.00001
NM_032888.4(COL27A1):c.3630G>A (p.Gly1210=) rs756863578 0.00001
NM_032888.4(COL27A1):c.3684G>A (p.Gly1228=) rs1386688842 0.00001
NM_032888.4(COL27A1):c.3717+8T>C rs1421670099 0.00001
NM_032888.4(COL27A1):c.3772-8T>C rs372680749 0.00001
NM_032888.4(COL27A1):c.3837C>G (p.Gly1279=) rs747151412 0.00001
NM_032888.4(COL27A1):c.3867C>T (p.Ser1289=) rs1271026454 0.00001
NM_032888.4(COL27A1):c.3880-10C>T rs777630861 0.00001
NM_032888.4(COL27A1):c.3880-5T>C rs770688614 0.00001
NM_032888.4(COL27A1):c.3880-7C>T rs1455531316 0.00001
NM_032888.4(COL27A1):c.3914C>T (p.Pro1305Leu) rs536227229 0.00001
NM_032888.4(COL27A1):c.3915G>A (p.Pro1305=) rs753514092 0.00001
NM_032888.4(COL27A1):c.3930T>C (p.Tyr1310=) rs377083574 0.00001
NM_032888.4(COL27A1):c.3934-5T>C rs200942565 0.00001
NM_032888.4(COL27A1):c.393C>T (p.Leu131=) rs377185109 0.00001
NM_032888.4(COL27A1):c.3951G>A (p.Val1317=) rs758174752 0.00001
NM_032888.4(COL27A1):c.3982G>A (p.Glu1328Lys) rs769508193 0.00001
NM_032888.4(COL27A1):c.3987+9T>A rs755571956 0.00001
NM_032888.4(COL27A1):c.4207-10G>C rs752092305 0.00001
NM_032888.4(COL27A1):c.4238C>A (p.Ala1413Asp) rs752888020 0.00001
NM_032888.4(COL27A1):c.4254G>T (p.Gly1418=) rs1193812382 0.00001
NM_032888.4(COL27A1):c.4278A>T (p.Pro1426=) rs1827818758 0.00001
NM_032888.4(COL27A1):c.4287G>A (p.Arg1429=) rs1464416833 0.00001
NM_032888.4(COL27A1):c.4290C>T (p.Gly1430=) rs575474490 0.00001
NM_032888.4(COL27A1):c.4293G>A (p.Val1431=) rs1332924250 0.00001
NM_032888.4(COL27A1):c.4335G>C (p.Gly1445=) rs772289658 0.00001
NM_032888.4(COL27A1):c.4368+7G>A rs909874370 0.00001
NM_032888.4(COL27A1):c.4383C>T (p.Asp1461=) rs1199082188 0.00001
NM_032888.4(COL27A1):c.4464C>T (p.Pro1488=) rs1265322353 0.00001
NM_032888.4(COL27A1):c.4530G>A (p.Glu1510=) rs749536750 0.00001
NM_032888.4(COL27A1):c.4545C>A (p.Leu1515=) rs1412585463 0.00001
NM_032888.4(COL27A1):c.4559G>A (p.Gly1520Glu) rs1240342306 0.00001
NM_032888.4(COL27A1):c.4584+10C>T rs763676344 0.00001
NM_032888.4(COL27A1):c.4584+8A>G rs760465347 0.00001
NM_032888.4(COL27A1):c.4665A>G (p.Lys1555=) rs780188969 0.00001
NM_032888.4(COL27A1):c.4701+9C>T rs374574395 0.00001
NM_032888.4(COL27A1):c.4716C>T (p.Ile1572=) rs770374638 0.00001
NM_032888.4(COL27A1):c.4719C>T (p.Val1573=) rs1245178440 0.00001
NM_032888.4(COL27A1):c.4752C>G (p.Leu1584=) rs182652506 0.00001
NM_032888.4(COL27A1):c.4756-15C>T rs551374988 0.00001
NM_032888.4(COL27A1):c.4792-5T>G rs1828622899 0.00001
NM_032888.4(COL27A1):c.4809+1G>C rs766405509 0.00001
NM_032888.4(COL27A1):c.4810-10G>T rs777481360 0.00001
NM_032888.4(COL27A1):c.4824C>T (p.Pro1608=) rs937408618 0.00001
NM_032888.4(COL27A1):c.4872+8G>A rs1010945154 0.00001
NM_032888.4(COL27A1):c.4917C>T (p.Thr1639=) rs1828899794 0.00001
NM_032888.4(COL27A1):c.4938+9A>C rs760940536 0.00001
NM_032888.4(COL27A1):c.4939-8C>T rs765827451 0.00001
NM_032888.4(COL27A1):c.4947C>T (p.Ser1649=) rs1453551719 0.00001
NM_032888.4(COL27A1):c.501A>G (p.Thr167=) rs774093023 0.00001
NM_032888.4(COL27A1):c.5059G>A (p.Ala1687Thr) rs755869669 0.00001
NM_032888.4(COL27A1):c.5094G>A (p.Gln1698=) rs1250224526 0.00001
NM_032888.4(COL27A1):c.5130C>T (p.Asn1710=) rs1405798136 0.00001
NM_032888.4(COL27A1):c.5178T>C (p.His1726=) rs1321917854 0.00001
NM_032888.4(COL27A1):c.5217+6C>T rs529163366 0.00001
NM_032888.4(COL27A1):c.5217+9C>T rs765530594 0.00001
NM_032888.4(COL27A1):c.5218-4A>G rs576235817 0.00001
NM_032888.4(COL27A1):c.5220C>T (p.Val1740=) rs886514953 0.00001
NM_032888.4(COL27A1):c.5253C>T (p.Phe1751=) rs767903261 0.00001
NM_032888.4(COL27A1):c.5289C>T (p.Ile1763=) rs916291602 0.00001
NM_032888.4(COL27A1):c.5313C>T (p.Thr1771=) rs372432322 0.00001
NM_032888.4(COL27A1):c.5355C>T (p.Ala1785=) rs377141342 0.00001
NM_032888.4(COL27A1):c.5412C>T (p.Pro1804=) rs750281633 0.00001
NM_032888.4(COL27A1):c.5418G>A (p.Val1806=) rs756143860 0.00001
NM_032888.4(COL27A1):c.54G>A (p.Ala18=) rs762262249 0.00001
NM_032888.4(COL27A1):c.5580C>T (p.Leu1860=) rs757035473 0.00001
NM_032888.4(COL27A1):c.60G>T (p.Gly20=) rs758537611 0.00001
NM_032888.4(COL27A1):c.62+9G>T rs781496001 0.00001
NM_032888.4(COL27A1):c.636T>C (p.Ala212=) rs766546940 0.00001
NM_032888.4(COL27A1):c.666G>A (p.Thr222=) rs745911804 0.00001
NM_032888.4(COL27A1):c.66G>T (p.Gly22=) rs1402569482 0.00001
NM_032888.4(COL27A1):c.681T>C (p.Asn227=) rs538713049 0.00001
NM_032888.4(COL27A1):c.723G>A (p.Thr241=) rs574675570 0.00001
NM_032888.4(COL27A1):c.792C>T (p.Leu264=) rs557055064 0.00001
NM_032888.4(COL27A1):c.819C>T (p.Thr273=) rs750381925 0.00001
NM_032888.4(COL27A1):c.835C>T (p.Leu279=) rs1023942074 0.00001
NM_032888.4(COL27A1):c.865A>C (p.Arg289=) rs1007867062 0.00001
NM_032888.4(COL27A1):c.912C>T (p.Ser304=) rs1292792104 0.00001
NM_032888.4(COL27A1):c.915C>T (p.Pro305=) rs1197599768 0.00001
NM_032888.4(COL27A1):c.963G>A (p.Pro321=) rs770066087 0.00001
NC_000009.11:g.(?_116917341)_(116918270_?)del
NC_000009.11:g.(?_117037921)_(117072975_?)dup
NC_000009.11:g.(?_117044259)_(117046337_?)del
NC_000009.11:g.(?_117046993)_(117072977_?)dup
NC_000009.11:g.(?_117050715)_(117072975_?)dup
NC_000009.12:g.114162718del
NC_000009.12:g.114205103del
NC_000009.12:g.114231822_114231832del
NC_000009.12:g.114258542_114258551del
NC_000009.12:g.114290059del
NM_032888.4(COL27A1):c.1002T>C (p.Asp334=)
NM_032888.4(COL27A1):c.1009C>T (p.Leu337Phe)
NM_032888.4(COL27A1):c.1017C>G (p.Ala339=)
NM_032888.4(COL27A1):c.1017C>T (p.Ala339=)
NM_032888.4(COL27A1):c.1020T>C (p.Ser340=)
NM_032888.4(COL27A1):c.1026C>A (p.Gly342=)
NM_032888.4(COL27A1):c.102T>C (p.Cys34=) rs1564409858
NM_032888.4(COL27A1):c.1040C>T (p.Thr347Met) rs562109049
NM_032888.4(COL27A1):c.1041G>A (p.Thr347=) rs774426205
NM_032888.4(COL27A1):c.1046G>A (p.Arg349His)
NM_032888.4(COL27A1):c.1053G>C (p.Ala351=)
NM_032888.4(COL27A1):c.105C>T (p.His35=) rs2135027968
NM_032888.4(COL27A1):c.1060C>T (p.Gln354Ter) rs1849075301
NM_032888.4(COL27A1):c.1061A>G (p.Gln354Arg)
NM_032888.4(COL27A1):c.1063C>T (p.Pro355Ser)
NM_032888.4(COL27A1):c.1064C>A (p.Pro355Gln)
NM_032888.4(COL27A1):c.1086C>T (p.Thr362=) rs2135079987
NM_032888.4(COL27A1):c.1104C>G (p.Leu368=)
NM_032888.4(COL27A1):c.1104C>T (p.Leu368=) rs749589243
NM_032888.4(COL27A1):c.1113G>C (p.Lys371Asn)
NM_032888.4(COL27A1):c.1116T>C (p.Pro372=)
NM_032888.4(COL27A1):c.1135A>T (p.Ile379Phe) rs200179131
NM_032888.4(COL27A1):c.1143C>T (p.Pro381=) rs2135080576
NM_032888.4(COL27A1):c.114C>T (p.Ser38=)
NM_032888.4(COL27A1):c.1154C>T (p.Pro385Leu)
NM_032888.4(COL27A1):c.1155C>T (p.Pro385=) rs2135080748
NM_032888.4(COL27A1):c.1164C>T (p.Thr388=)
NM_032888.4(COL27A1):c.1166A>G (p.Gln389Arg)
NM_032888.4(COL27A1):c.116C>T (p.Thr39Ile)
NM_032888.4(COL27A1):c.1179A>G (p.Pro393=) rs1382532191
NM_032888.4(COL27A1):c.1194G>A (p.Lys398=) rs758266288
NM_032888.4(COL27A1):c.11G>C (p.Gly4Ala) rs1848091276
NM_032888.4(COL27A1):c.1201C>T (p.Leu401=)
NM_032888.4(COL27A1):c.1208C>T (p.Thr403Ile) rs367573546
NM_032888.4(COL27A1):c.1209T>A (p.Thr403=)
NM_032888.4(COL27A1):c.1216C>T (p.Gln406Ter) rs1849088219
NM_032888.4(COL27A1):c.1218A>C (p.Gln406His)
NM_032888.4(COL27A1):c.1226C>A (p.Pro409His)
NM_032888.4(COL27A1):c.1226C>T (p.Pro409Leu)
NM_032888.4(COL27A1):c.1234C>T (p.Arg412Cys)
NM_032888.4(COL27A1):c.1235G>C (p.Arg412Pro)
NM_032888.4(COL27A1):c.1235G>T (p.Arg412Leu) rs148184700
NM_032888.4(COL27A1):c.1245T>C (p.Pro415=)
NM_032888.4(COL27A1):c.1251_1252del (p.Arg417fs)
NM_032888.4(COL27A1):c.1254C>G (p.Val418=)
NM_032888.4(COL27A1):c.1258C>G (p.Arg420Gly)
NM_032888.4(COL27A1):c.1258C>T (p.Arg420Cys) rs375099559
NM_032888.4(COL27A1):c.1264G>A (p.Ala422Thr) rs2241671
NM_032888.4(COL27A1):c.1275C>T (p.Pro425=)
NM_032888.4(COL27A1):c.1287C>T (p.Asn429=) rs754901557
NM_032888.4(COL27A1):c.1289del (p.Pro430fs)
NM_032888.4(COL27A1):c.1290G>C (p.Pro430=)
NM_032888.4(COL27A1):c.1299C>T (p.Pro433=) rs769351304
NM_032888.4(COL27A1):c.12A>G (p.Gly4=) rs1848091410
NM_032888.4(COL27A1):c.1300A>C (p.Arg434=) rs1849093908
NM_032888.4(COL27A1):c.1308A>G (p.Pro436=)
NM_032888.4(COL27A1):c.1314C>T (p.Pro438=)
NM_032888.4(COL27A1):c.1320C>T (p.Thr440=)
NM_032888.4(COL27A1):c.1322G>A (p.Arg441Gln)
NM_032888.4(COL27A1):c.1323G>T (p.Arg441=)
NM_032888.4(COL27A1):c.1329A>G (p.Leu443=)
NM_032888.4(COL27A1):c.133+9C>T
NM_032888.4(COL27A1):c.1332T>A (p.Pro444=) rs2135082673
NM_032888.4(COL27A1):c.1332T>G (p.Pro444=)
NM_032888.4(COL27A1):c.134-14T>C
NM_032888.4(COL27A1):c.134-5C>T
NM_032888.4(COL27A1):c.134-7C>T
NM_032888.4(COL27A1):c.134-8C>T
NM_032888.4(COL27A1):c.1341C>T (p.Thr447=) rs2135082748
NM_032888.4(COL27A1):c.1345_1346delinsAA (p.Ser449Asn) rs2135082816
NM_032888.4(COL27A1):c.1346C>T (p.Ser449Phe)
NM_032888.4(COL27A1):c.1356A>G (p.Lys452=)
NM_032888.4(COL27A1):c.1359C>T (p.Pro453=) rs1199488790
NM_032888.4(COL27A1):c.1365C>A (p.Pro455=) rs751335161
NM_032888.4(COL27A1):c.1368A>G (p.Thr456=) rs2135083150
NM_032888.4(COL27A1):c.1373del (p.Ala458fs) rs2135083222
NM_032888.4(COL27A1):c.1374T>G (p.Ala458=) rs2135083240
NM_032888.4(COL27A1):c.1388A>G (p.Lys463Arg)
NM_032888.4(COL27A1):c.1410G>A (p.Lys470=)
NM_032888.4(COL27A1):c.1412C>T (p.Pro471Leu)
NM_032888.4(COL27A1):c.1413G>T (p.Pro471=) rs762347705
NM_032888.4(COL27A1):c.141C>T (p.Asp47=) rs1023106800
NM_032888.4(COL27A1):c.1431C>T (p.Ser477=)
NM_032888.4(COL27A1):c.1440A>G (p.Lys480=)
NM_032888.4(COL27A1):c.1444C>G (p.Pro482Ala) rs759321031
NM_032888.4(COL27A1):c.1450T>C (p.Phe484Leu) rs1179572837
NM_032888.4(COL27A1):c.1459T>C (p.Leu487=) rs1934909426
NM_032888.4(COL27A1):c.1467A>G (p.Ser489=)
NM_032888.4(COL27A1):c.147C>T (p.Leu49=) rs141061686
NM_032888.4(COL27A1):c.1488T>C (p.Gly496=)
NM_032888.4(COL27A1):c.1497G>T (p.Arg499Ser)
NM_032888.4(COL27A1):c.1504C>A (p.Arg502=) rs142260452
NM_032888.4(COL27A1):c.1505G>A (p.Arg502Gln)
NM_032888.4(COL27A1):c.1506G>C (p.Arg502=)
NM_032888.4(COL27A1):c.150G>A (p.Gln50=)
NM_032888.4(COL27A1):c.1517C>G (p.Thr506Arg) rs1290281761
NM_032888.4(COL27A1):c.1518G>T (p.Thr506=)
NM_032888.4(COL27A1):c.1521_1523del (p.Met507_Val508delinsIle) rs2135084775
NM_032888.4(COL27A1):c.1524A>C (p.Val508=) rs2135084828
NM_032888.4(COL27A1):c.1536G>C (p.Ser512=)
NM_032888.4(COL27A1):c.153G>T (p.Arg51=)
NM_032888.4(COL27A1):c.1551C>T (p.Pro517=)
NM_032888.4(COL27A1):c.1557A>G (p.Thr519=)
NM_032888.4(COL27A1):c.1560A>G (p.Ala520=) rs778337016
NM_032888.4(COL27A1):c.1563T>A (p.Pro521=)
NM_032888.4(COL27A1):c.1566C>G (p.Ala522=) rs145560419
NM_032888.4(COL27A1):c.1566C>T (p.Ala522=) rs145560419
NM_032888.4(COL27A1):c.1567G>A (p.Val523Ile)
NM_032888.4(COL27A1):c.1567G>C (p.Val523Leu) rs143993841
NM_032888.4(COL27A1):c.1572C>T (p.Pro524=) rs1849124554
NM_032888.4(COL27A1):c.1575T>A (p.Thr525=)
NM_032888.4(COL27A1):c.1587T>A (p.Ala529=) rs1849125680
NM_032888.4(COL27A1):c.159C>G (p.Gly53=)
NM_032888.4(COL27A1):c.15G>A (p.Ser5=)
NM_032888.4(COL27A1):c.1602G>A (p.Lys534=)
NM_032888.4(COL27A1):c.1612G>A (p.Gly538Arg) rs1257764160
NM_032888.4(COL27A1):c.1629G>A (p.Lys543=) rs2135086137
NM_032888.4(COL27A1):c.162C>T (p.Leu54=)
NM_032888.4(COL27A1):c.1635C>G (p.Ala545=) rs552089615
NM_032888.4(COL27A1):c.1638A>T (p.Gly546=)
NM_032888.4(COL27A1):c.1644G>A (p.Lys548=)
NM_032888.4(COL27A1):c.1650C>T (p.Ser550=)
NM_032888.4(COL27A1):c.1653C>A (p.Pro551=)
NM_032888.4(COL27A1):c.1654C>A (p.Arg552=) rs199557870
NM_032888.4(COL27A1):c.1654C>T (p.Arg552Trp)
NM_032888.4(COL27A1):c.1656G>A (p.Arg552=) rs533567544
NM_032888.4(COL27A1):c.165C>T (p.Ser55=) rs1848988918
NM_032888.4(COL27A1):c.1663G>C (p.Val555Leu)
NM_032888.4(COL27A1):c.1665C>A (p.Val555=)
NM_032888.4(COL27A1):c.1665C>T (p.Val555=) rs1301585833
NM_032888.4(COL27A1):c.1677T>C (p.Pro559=)
NM_032888.4(COL27A1):c.1686A>G (p.Ala562=)
NM_032888.4(COL27A1):c.168G>A (p.Trp56Ter)
NM_032888.4(COL27A1):c.1692G>A (p.Arg564=)
NM_032888.4(COL27A1):c.1698C>G (p.Val566=)
NM_032888.4(COL27A1):c.1699C>T (p.Pro567Ser)
NM_032888.4(COL27A1):c.1701C>T (p.Pro567=) rs2135087154
NM_032888.4(COL27A1):c.1702T>C (p.Leu568=)
NM_032888.4(COL27A1):c.1708G>T (p.Asp570Tyr)
NM_032888.4(COL27A1):c.170C>T (p.Thr57Met) rs150242638
NM_032888.4(COL27A1):c.1711C>T (p.Leu571=)
NM_032888.4(COL27A1):c.1713G>A (p.Leu571=) rs2135087291
NM_032888.4(COL27A1):c.1719C>G (p.Thr573=)
NM_032888.4(COL27A1):c.1719C>T (p.Thr573=)
NM_032888.4(COL27A1):c.1722G>A (p.Arg574=) rs2135087430
NM_032888.4(COL27A1):c.1727G>C (p.Ser576Thr) rs148019836
NM_032888.4(COL27A1):c.1727G>T (p.Ser576Ile) rs148019836
NM_032888.4(COL27A1):c.1728C>T (p.Ser576=)
NM_032888.4(COL27A1):c.1734_1743dup (p.Pro582fs) rs2135087452
NM_032888.4(COL27A1):c.1740C>G (p.Pro580=)
NM_032888.4(COL27A1):c.1745C>A (p.Pro582His)
NM_032888.4(COL27A1):c.1746C>T (p.Pro582=)
NM_032888.4(COL27A1):c.174G>A (p.Lys58=)
NM_032888.4(COL27A1):c.1753C>G (p.Gln585Glu)
NM_032888.4(COL27A1):c.1758C>A (p.Thr586=)
NM_032888.4(COL27A1):c.1758C>T (p.Thr586=)
NM_032888.4(COL27A1):c.1761C>T (p.Thr587=) rs767097455
NM_032888.4(COL27A1):c.1763C>T (p.Pro588Leu)
NM_032888.4(COL27A1):c.1764G>T (p.Pro588=) rs762087400
NM_032888.4(COL27A1):c.1765G>T (p.Ala589Ser)
NM_032888.4(COL27A1):c.1767C>G (p.Ala589=)
NM_032888.4(COL27A1):c.1771G>A (p.Val591Ile)
NM_032888.4(COL27A1):c.1774T>C (p.Leu592=)
NM_032888.4(COL27A1):c.1780C>T (p.Pro594Ser)
NM_032888.4(COL27A1):c.1782G>C (p.Pro594=) rs541446954
NM_032888.4(COL27A1):c.1788A>G (p.Gln596=)
NM_032888.4(COL27A1):c.1794G>A (p.Leu598=) rs1294827331
NM_032888.4(COL27A1):c.1803C>T (p.Ser601=) rs749060672
NM_032888.4(COL27A1):c.1805C>T (p.Pro602Leu)
NM_032888.4(COL27A1):c.1806C>T (p.Pro602=)
NM_032888.4(COL27A1):c.1807C>T (p.Arg603Trp)
NM_032888.4(COL27A1):c.180G>A (p.Gly60=) rs564819689
NM_032888.4(COL27A1):c.1812C>A (p.Pro604=) rs372386328
NM_032888.4(COL27A1):c.1814C>T (p.Thr605Met)
NM_032888.4(COL27A1):c.1815G>C (p.Thr605=) rs989121410
NM_032888.4(COL27A1):c.1815G>T (p.Thr605=) rs989121410
NM_032888.4(COL27A1):c.1821T>C (p.Ser607=) rs2135088677
NM_032888.4(COL27A1):c.1827T>C (p.Tyr609=)
NM_032888.4(COL27A1):c.1830G>T (p.Ser610=)
NM_032888.4(COL27A1):c.1840C>A (p.Leu614Met)
NM_032888.4(COL27A1):c.1840C>T (p.Leu614=)
NM_032888.4(COL27A1):c.1845A>G (p.Ala615=)
NM_032888.4(COL27A1):c.1853C>T (p.Thr618Met)
NM_032888.4(COL27A1):c.1854G>T (p.Thr618=) rs114789352
NM_032888.4(COL27A1):c.1857T>C (p.Pro619=) rs1849152119
NM_032888.4(COL27A1):c.1864C>T (p.Leu622=)
NM_032888.4(COL27A1):c.1865del (p.Leu622fs)
NM_032888.4(COL27A1):c.1866G>C (p.Leu622=)
NM_032888.4(COL27A1):c.1869G>A (p.Leu623=)
NM_032888.4(COL27A1):c.1869G>C (p.Leu623=) rs757059453
NM_032888.4(COL27A1):c.1869G>T (p.Leu623=)
NM_032888.4(COL27A1):c.1875G>A (p.Gly625=)
NM_032888.4(COL27A1):c.1881G>A (p.Pro627=)
NM_032888.4(COL27A1):c.1884A>G (p.Gly628=)
NM_032888.4(COL27A1):c.1884A>T (p.Gly628=) rs768324770
NM_032888.4(COL27A1):c.1891_1908+1dup rs1849155569
NM_032888.4(COL27A1):c.18G>A (p.Ala6=)
NM_032888.4(COL27A1):c.1902C>G (p.Gly634=) rs2808771
NM_032888.4(COL27A1):c.1908+15G>A
NM_032888.4(COL27A1):c.1908+16G>T
NM_032888.4(COL27A1):c.1908+17T>C
NM_032888.4(COL27A1):c.1908+18C>T
NM_032888.4(COL27A1):c.1908+1G>A
NM_032888.4(COL27A1):c.1908+7C>T rs754044631
NM_032888.4(COL27A1):c.1908+9G>A
NM_032888.4(COL27A1):c.1909-13G>A
NM_032888.4(COL27A1):c.1909-13G>C rs774821525
NM_032888.4(COL27A1):c.1909-13G>T
NM_032888.4(COL27A1):c.1909-15T>C
NM_032888.4(COL27A1):c.1909-3C>T
NM_032888.4(COL27A1):c.1909-6C>T rs2135144902
NM_032888.4(COL27A1):c.1915C>G (p.Pro639Ala)
NM_032888.4(COL27A1):c.1920G>C (p.Gly640=)
NM_032888.4(COL27A1):c.1920GCTACCTGG[1] (p.641LPG[1])
NM_032888.4(COL27A1):c.1921C>T (p.Leu641=) rs1827624980
NM_032888.4(COL27A1):c.1929G>A (p.Gly643=)
NM_032888.4(COL27A1):c.192C>G (p.Pro64=)
NM_032888.4(COL27A1):c.192C>T (p.Pro64=)
NM_032888.4(COL27A1):c.1950A>G (p.Ala650=) rs2135145354
NM_032888.4(COL27A1):c.1959T>C (p.Pro653=)
NM_032888.4(COL27A1):c.195G>A (p.Pro65=)
NM_032888.4(COL27A1):c.1960C>T (p.Arg654Trp)
NM_032888.4(COL27A1):c.1962+14C>T
NM_032888.4(COL27A1):c.1962+16C>G
NM_032888.4(COL27A1):c.1962+17T>C
NM_032888.4(COL27A1):c.1962+20C>T
NM_032888.4(COL27A1):c.1962+8A>T rs2135145511
NM_032888.4(COL27A1):c.1963-15C>T
NM_032888.4(COL27A1):c.1963-16T>C
NM_032888.4(COL27A1):c.1963-2A>G
NM_032888.4(COL27A1):c.1963-6_1963-3del
NM_032888.4(COL27A1):c.1963-7C>T rs773244793
NM_032888.4(COL27A1):c.1963-9C>T
NM_032888.4(COL27A1):c.1966C>T (p.Pro656Ser) rs1344379232
NM_032888.4(COL27A1):c.1988C>T (p.Pro663Leu) rs1416870152
NM_032888.4(COL27A1):c.1989A>C (p.Pro663=)
NM_032888.4(COL27A1):c.1995C>A (p.Leu665=)
NM_032888.4(COL27A1):c.1999G>A (p.Gly667Ser)
NM_032888.4(COL27A1):c.199G>A (p.Val67Ile)
NM_032888.4(COL27A1):c.2010A>G (p.Gly670=)
NM_032888.4(COL27A1):c.2013C>G (p.Ala671=)
NM_032888.4(COL27A1):c.2016+10T>C rs1828060298
NM_032888.4(COL27A1):c.2016+16A>C
NM_032888.4(COL27A1):c.2016+20G>A
NM_032888.4(COL27A1):c.2016+2_2016+3del
NM_032888.4(COL27A1):c.2016+7_2016+10del
NM_032888.4(COL27A1):c.2016+9_2016+19dup
NM_032888.4(COL27A1):c.2017-13G>T
NM_032888.4(COL27A1):c.2017-17A>G
NM_032888.4(COL27A1):c.2017-8T>C
NM_032888.4(COL27A1):c.2026G>A (p.Gly676Arg) rs2135241121
NM_032888.4(COL27A1):c.2040C>G (p.Leu680=) rs1588631185
NM_032888.4(COL27A1):c.2055C>A (p.Ala685=) rs145414281
NM_032888.4(COL27A1):c.205C>A (p.Pro69Thr) rs1848992758
NM_032888.4(COL27A1):c.2064G>A (p.Gly688=) rs1417598438
NM_032888.4(COL27A1):c.2065del (p.Ala689fs) rs2135241404
NM_032888.4(COL27A1):c.2070+11A>C
NM_032888.4(COL27A1):c.2070+13G>T
NM_032888.4(COL27A1):c.2070+14G>A rs2135241581
NM_032888.4(COL27A1):c.2070+18C>T
NM_032888.4(COL27A1):c.2070+19C>A
NM_032888.4(COL27A1):c.2070+8T>C
NM_032888.4(COL27A1):c.2070+8del rs936857790
NM_032888.4(COL27A1):c.2071-20A>G
NM_032888.4(COL27A1):c.2071-2A>G rs1829092348
NM_032888.4(COL27A1):c.2071-7C>T rs2135249350
NM_032888.4(COL27A1):c.2076C>T (p.Asp692=)
NM_032888.4(COL27A1):c.2088T>A (p.Pro696=)
NM_032888.4(COL27A1):c.2098G>A (p.Gly700Arg)
NM_032888.4(COL27A1):c.2114C>T (p.Pro705Leu) rs549850855
NM_032888.4(COL27A1):c.2119C>A (p.Arg707=)
NM_032888.4(COL27A1):c.2119C>T (p.Arg707Ter) rs1401322428
NM_032888.4(COL27A1):c.2121A>G (p.Arg707=) rs1588634633
NM_032888.4(COL27A1):c.2124+2T>C
NM_032888.4(COL27A1):c.2124+3A>T
NM_032888.4(COL27A1):c.2124+7T>C
NM_032888.4(COL27A1):c.2125-16C>G
NM_032888.4(COL27A1):c.2125-16C>T
NM_032888.4(COL27A1):c.2125-17T>C
NM_032888.4(COL27A1):c.2125-2del
NM_032888.4(COL27A1):c.2125-6C>T
NM_032888.4(COL27A1):c.2125-8T>G
NM_032888.4(COL27A1):c.2125-9C>A rs2135298358
NM_032888.4(COL27A1):c.2125-9C>T rs2135298358
NM_032888.4(COL27A1):c.2136C>T (p.Gly712=) rs2135298537
NM_032888.4(COL27A1):c.2139T>A (p.Tyr713Ter) rs2135298547
NM_032888.4(COL27A1):c.2142T>C (p.Pro714=) rs1458354131
NM_032888.4(COL27A1):c.2145A>G (p.Gly715=) rs2135298589
NM_032888.4(COL27A1):c.2148G>A (p.Pro716=) rs13290696
NM_032888.4(COL27A1):c.2148G>T (p.Pro716=) rs13290696
NM_032888.4(COL27A1):c.2153G>C (p.Gly718Ala)
NM_032888.4(COL27A1):c.2159C>G (p.Pro720Arg) rs35446342
NM_032888.4(COL27A1):c.2159C>T (p.Pro720Leu)
NM_032888.4(COL27A1):c.215C>T (p.Ser72Leu)
NM_032888.4(COL27A1):c.2160C>G (p.Pro720=)
NM_032888.4(COL27A1):c.2161G>A (p.Gly721Arg)
NM_032888.4(COL27A1):c.2169+11C>T rs2135298910
NM_032888.4(COL27A1):c.2169+16T>C
NM_032888.4(COL27A1):c.2169+18A>G
NM_032888.4(COL27A1):c.2169+1G>T
NM_032888.4(COL27A1):c.2169+22del
NM_032888.4(COL27A1):c.2169+2T>A
NM_032888.4(COL27A1):c.2169+7GCCTCA[3] rs2135298884
NM_032888.4(COL27A1):c.2169+8C>G
NM_032888.4(COL27A1):c.2169+8C>T rs371511114
NM_032888.4(COL27A1):c.2170-12G>A
NM_032888.4(COL27A1):c.2170-13T>C
NM_032888.4(COL27A1):c.2170-13T>G
NM_032888.4(COL27A1):c.2170-19T>C
NM_032888.4(COL27A1):c.2170-20T>G
NM_032888.4(COL27A1):c.2170-8C>T rs2135302860
NM_032888.4(COL27A1):c.2170-9C>G rs1348597490
NM_032888.4(COL27A1):c.2172G>A (p.Gly724=) rs2135302934
NM_032888.4(COL27A1):c.2172G>T (p.Gly724=)
NM_032888.4(COL27A1):c.2178A>G (p.Pro726=) rs1564466617
NM_032888.4(COL27A1):c.2180G>A (p.Gly727Glu)
NM_032888.4(COL27A1):c.2181A>G (p.Gly727=) rs755262175
NM_032888.4(COL27A1):c.2187G>A (p.Glu729=)
NM_032888.4(COL27A1):c.2190C>T (p.Gly730=)
NM_032888.4(COL27A1):c.2196A>G (p.Pro732=) rs1829909724
NM_032888.4(COL27A1):c.219C>T (p.Gly73=) rs2135070060
NM_032888.4(COL27A1):c.21G>C (p.Arg7=) rs2134975477
NM_032888.4(COL27A1):c.2211C>T (p.Tyr737=)
NM_032888.4(COL27A1):c.2214T>C (p.Pro738=)
NM_032888.4(COL27A1):c.2223+10A>G
NM_032888.4(COL27A1):c.2223+11T>C
NM_032888.4(COL27A1):c.2223+17C>G
NM_032888.4(COL27A1):c.2224-13T>C
NM_032888.4(COL27A1):c.2224-14G>A
NM_032888.4(COL27A1):c.2224-16G>A
NM_032888.4(COL27A1):c.2224-19T>G rs1829958199
NM_032888.4(COL27A1):c.2226G>A (p.Gly742=)
NM_032888.4(COL27A1):c.2226G>T (p.Gly742=) rs2135306511
NM_032888.4(COL27A1):c.2227T>C (p.Leu743=)
NM_032888.4(COL27A1):c.2235A>G (p.Gly745=) rs2135306533
NM_032888.4(COL27A1):c.2238G>T (p.Pro746=)
NM_032888.4(COL27A1):c.2244A>G (p.Gly748=) rs1829960539
NM_032888.4(COL27A1):c.2264G>A (p.Ser755Asn)
NM_032888.4(COL27A1):c.2268+13T>G
NM_032888.4(COL27A1):c.2268+15G>T
NM_032888.4(COL27A1):c.2268+16C>T
NM_032888.4(COL27A1):c.2268+17C>T
NM_032888.4(COL27A1):c.2268+1G>A
NM_032888.4(COL27A1):c.2268+1G>T
NM_032888.4(COL27A1):c.2268+7G>T
NM_032888.4(COL27A1):c.2269-19C>G
NM_032888.4(COL27A1):c.2269-2A>G
NM_032888.4(COL27A1):c.2269-5C>T rs2135328120
NM_032888.4(COL27A1):c.2269-6T>C rs2135328107
NM_032888.4(COL27A1):c.2275A>C (p.Ile759Leu) rs138572438
NM_032888.4(COL27A1):c.228T>C (p.Phe76=)
NM_032888.4(COL27A1):c.2296G>A (p.Gly766Ser)
NM_032888.4(COL27A1):c.2299C>T (p.Leu767=)
NM_032888.4(COL27A1):c.2303C>T (p.Pro768Leu)
NM_032888.4(COL27A1):c.2304A>G (p.Pro768=)
NM_032888.4(COL27A1):c.2305G>C (p.Gly769Arg)
NM_032888.4(COL27A1):c.230C>T (p.Thr77Met)
NM_032888.4(COL27A1):c.2313T>C (p.Asp771=) rs2135328589
NM_032888.4(COL27A1):c.2319A>G (p.Glu773=) rs1830218259
NM_032888.4(COL27A1):c.2320C>T (p.Arg774Ter) rs1465820080
NM_032888.4(COL27A1):c.2322+10C>T
NM_032888.4(COL27A1):c.2322+9G>C rs2135328709
NM_032888.4(COL27A1):c.2323-10T>C rs756561869
NM_032888.4(COL27A1):c.2323-16del
NM_032888.4(COL27A1):c.2323-17_2323-16del
NM_032888.4(COL27A1):c.2323-18C>T
NM_032888.4(COL27A1):c.2323-19C>T
NM_032888.4(COL27A1):c.2323-6C>T rs2135336493
NM_032888.4(COL27A1):c.2323-6del rs2135336457
NM_032888.4(COL27A1):c.2323-8C>A rs376355086
NM_032888.4(COL27A1):c.2323-9C>T rs1296957713
NM_032888.4(COL27A1):c.2324G>T (p.Gly775Val)
NM_032888.4(COL27A1):c.2328G>C (p.Leu776=) rs779051348
NM_032888.4(COL27A1):c.2335G>A (p.Val779Ile)
NM_032888.4(COL27A1):c.2337T>C (p.Val779=) rs1013679868
NM_032888.4(COL27A1):c.2346G>A (p.Lys782=)
NM_032888.4(COL27A1):c.2367+13C>T
NM_032888.4(COL27A1):c.2367+14G>C
NM_032888.4(COL27A1):c.2367+15T>C
NM_032888.4(COL27A1):c.2367+15del
NM_032888.4(COL27A1):c.2367+17T>C
NM_032888.4(COL27A1):c.2367+18C>A
NM_032888.4(COL27A1):c.2367+20A>G
NM_032888.4(COL27A1):c.2367+2T>C rs2135336813
NM_032888.4(COL27A1):c.2367+7del
NM_032888.4(COL27A1):c.2367G>A (p.Pro789=) rs1830319943
NM_032888.4(COL27A1):c.2368-10T>C rs758623319
NM_032888.4(COL27A1):c.2368-12C>T
NM_032888.4(COL27A1):c.2368-13T>G
NM_032888.4(COL27A1):c.2368-7C>T
NM_032888.4(COL27A1):c.2368-8C>A
NM_032888.4(COL27A1):c.2370G>A (p.Gly790=) rs543032990
NM_032888.4(COL27A1):c.2370G>T (p.Gly790=)
NM_032888.4(COL27A1):c.2374C>A (p.Pro792Thr) rs2135381720
NM_032888.4(COL27A1):c.2382C>T (p.Val794=) rs2135381748
NM_032888.4(COL27A1):c.2394A>G (p.Arg798=)
NM_032888.4(COL27A1):c.2403T>C (p.Pro801=)
NM_032888.4(COL27A1):c.2412T>C (p.Asp804=)
NM_032888.4(COL27A1):c.2418T>C (p.Asn806=) rs1830955214
NM_032888.4(COL27A1):c.2421+12A>C
NM_032888.4(COL27A1):c.2421+14G>A
NM_032888.4(COL27A1):c.2421+15T>A
NM_032888.4(COL27A1):c.2421+16C>G
NM_032888.4(COL27A1):c.2421+19T>C
NM_032888.4(COL27A1):c.2421+20G>C
NM_032888.4(COL27A1):c.2422-14C>T
NM_032888.4(COL27A1):c.2422-17TC[2]
NM_032888.4(COL27A1):c.2422-17TC[3]
NM_032888.4(COL27A1):c.2422-19G>A
NM_032888.4(COL27A1):c.2422-8A>C
NM_032888.4(COL27A1):c.2422-9T>C
NM_032888.4(COL27A1):c.2442C>A (p.Gly814=) rs200237175
NM_032888.4(COL27A1):c.2442C>G (p.Gly814=) rs200237175
NM_032888.4(COL27A1):c.2445C>G (p.Pro815=) rs1170255573
NM_032888.4(COL27A1):c.2446_2447delinsA (p.Pro816fs)
NM_032888.4(COL27A1):c.2461C>T (p.Leu821Phe)
NM_032888.4(COL27A1):c.2466+11T>C
NM_032888.4(COL27A1):c.2466+11_2466+12insA
NM_032888.4(COL27A1):c.2466+15G>C
NM_032888.4(COL27A1):c.2466+1G>T rs1831165670
NM_032888.4(COL27A1):c.2467-11T>C
NM_032888.4(COL27A1):c.2467-19del
NM_032888.4(COL27A1):c.2467-6C>T rs2135430358
NM_032888.4(COL27A1):c.2467-7C>T rs2135430352
NM_032888.4(COL27A1):c.2472C>T (p.Asp824=) rs749801104
NM_032888.4(COL27A1):c.24G>A (p.Gly8=)
NM_032888.4(COL27A1):c.2501C>T (p.Pro834Leu)
NM_032888.4(COL27A1):c.2502G>A (p.Pro834=)
NM_032888.4(COL27A1):c.2502G>T (p.Pro834=)
NM_032888.4(COL27A1):c.2508C>T (p.Pro836=) rs2135430684
NM_032888.4(COL27A1):c.2511G>A (p.Lys837=) rs2135430719
NM_032888.4(COL27A1):c.2516T>C (p.Met839Thr)
NM_032888.4(COL27A1):c.2520+10G>A
NM_032888.4(COL27A1):c.2520+13T>A
NM_032888.4(COL27A1):c.2520+17C>T
NM_032888.4(COL27A1):c.2520+19C>T
NM_032888.4(COL27A1):c.2521-2A>C rs2135433834
NM_032888.4(COL27A1):c.2521-4G>A
NM_032888.4(COL27A1):c.2521-7C>T
NM_032888.4(COL27A1):c.2527A>T (p.Met843Leu)
NM_032888.4(COL27A1):c.2535C>T (p.Ser845=) rs751042704
NM_032888.4(COL27A1):c.2536G>A (p.Val846Met)
NM_032888.4(COL27A1):c.2536G>T (p.Val846Leu)
NM_032888.4(COL27A1):c.2538G>A (p.Val846=) rs757766671
NM_032888.4(COL27A1):c.2538G>C (p.Val846=) rs757766671
NM_032888.4(COL27A1):c.2538G>T (p.Val846=) rs757766671
NM_032888.4(COL27A1):c.2542del (p.Glu848fs) rs2135434002
NM_032888.4(COL27A1):c.2547C>G (p.Pro849=)
NM_032888.4(COL27A1):c.2553G>T (p.Leu851=)
NM_032888.4(COL27A1):c.2562T>C (p.Asp854=) rs2135434196
NM_032888.4(COL27A1):c.2565+15C>T
NM_032888.4(COL27A1):c.2565+16C>G
NM_032888.4(COL27A1):c.2565+17C>A
NM_032888.4(COL27A1):c.2565+1G>A
NM_032888.4(COL27A1):c.2566-12G>A
NM_032888.4(COL27A1):c.2568T>C (p.Gly856=) rs2135453069
NM_032888.4(COL27A1):c.2576_2577insT (p.Val860fs) rs2135453120
NM_032888.4(COL27A1):c.2580T>A (p.Val860=) rs1832329625
NM_032888.4(COL27A1):c.2589G>A (p.Val863=) rs2135453160
NM_032888.4(COL27A1):c.2589G>C (p.Val863=)
NM_032888.4(COL27A1):c.2589G>T (p.Val863=)
NM_032888.4(COL27A1):c.258G>C (p.Thr86=) rs79824663
NM_032888.4(COL27A1):c.2601C>G (p.Pro867=)
NM_032888.4(COL27A1):c.2610A>G (p.Gln870=)
NM_032888.4(COL27A1):c.2619+12A>G
NM_032888.4(COL27A1):c.2619+19C>T
NM_032888.4(COL27A1):c.2619+1G>T
NM_032888.4(COL27A1):c.2620-11A>G
NM_032888.4(COL27A1):c.2620-17C>T
NM_032888.4(COL27A1):c.2622G>T (p.Gly874=) rs752780701
NM_032888.4(COL27A1):c.2625C>T (p.Ser875=) rs1832443116
NM_032888.4(COL27A1):c.2631G>C (p.Gly877=) rs2135459724
NM_032888.4(COL27A1):c.2637A>G (p.Pro879=)
NM_032888.4(COL27A1):c.2639G>C (p.Gly880Ala)
NM_032888.4(COL27A1):c.2649T>G (p.Gly883=)
NM_032888.4(COL27A1):c.2653C>T (p.Arg885Trp)
NM_032888.4(COL27A1):c.2670T>C (p.Pro890=)
NM_032888.4(COL27A1):c.2673+10T>C rs2135460148
NM_032888.4(COL27A1):c.2673+8C>T
NM_032888.4(COL27A1):c.2674-16C>T
NM_032888.4(COL27A1):c.2674-6C>T
NM_032888.4(COL27A1):c.2679A>G (p.Lys893=) rs2135462769
NM_032888.4(COL27A1):c.2694A>C (p.Gly898=) rs2135462855
NM_032888.4(COL27A1):c.269T>C (p.Ile90Thr) rs1041670066
NM_032888.4(COL27A1):c.2715C>G (p.Pro905=)
NM_032888.4(COL27A1):c.2718T>C (p.Pro906=)
NM_032888.4(COL27A1):c.2724C>A (p.Pro908=)
NM_032888.4(COL27A1):c.2724C>G (p.Pro908=)
NM_032888.4(COL27A1):c.2727+13C>T
NM_032888.4(COL27A1):c.2727+18T>G
NM_032888.4(COL27A1):c.2727+19C>T
NM_032888.4(COL27A1):c.2727+19_2727+22dup
NM_032888.4(COL27A1):c.2728-11C>T
NM_032888.4(COL27A1):c.2728-16C>G
NM_032888.4(COL27A1):c.2736A>G (p.Pro912=)
NM_032888.4(COL27A1):c.273T>G (p.Pro91=)
NM_032888.4(COL27A1):c.2748C>A (p.Gly916=)
NM_032888.4(COL27A1):c.2748C>T (p.Gly916=) rs1295220355
NM_032888.4(COL27A1):c.2751C>T (p.Pro917=) rs2135474072
NM_032888.4(COL27A1):c.2754T>C (p.Pro918=)
NM_032888.4(COL27A1):c.2757C>A (p.Gly919=) rs558379555
NM_032888.4(COL27A1):c.2763T>C (p.Asn921=) rs2135474187
NM_032888.4(COL27A1):c.2769A>G (p.Pro923=) rs766658136
NM_032888.4(COL27A1):c.2775C>T (p.Gly925=)
NM_032888.4(COL27A1):c.2778G>A (p.Met926Ile) rs1832667521
NM_032888.4(COL27A1):c.277G>A (p.Ala93Thr)
NM_032888.4(COL27A1):c.2781+13C>G
NM_032888.4(COL27A1):c.2781+15A>C
NM_032888.4(COL27A1):c.2781+16G>A
NM_032888.4(COL27A1):c.2781+16G>C
NM_032888.4(COL27A1):c.2781+9C>T
NM_032888.4(COL27A1):c.2781+9del rs767282205
NM_032888.4(COL27A1):c.2782-11C>A
NM_032888.4(COL27A1):c.2782-13C>T
NM_032888.4(COL27A1):c.2782-15T>C
NM_032888.4(COL27A1):c.2782-16G>A
NM_032888.4(COL27A1):c.2782-18T>G
NM_032888.4(COL27A1):c.2782-4C>T
NM_032888.4(COL27A1):c.2782-5C>T
NM_032888.4(COL27A1):c.2782-6C>T
NM_032888.4(COL27A1):c.2796C>A (p.Ala932=)
NM_032888.4(COL27A1):c.279C>G (p.Ala93=)
NM_032888.4(COL27A1):c.2805G>A (p.Leu935=) rs2135475310
NM_032888.4(COL27A1):c.2807C>T (p.Pro936Leu)
NM_032888.4(COL27A1):c.2808G>T (p.Pro936=)
NM_032888.4(COL27A1):c.2809G>A (p.Gly937Arg)
NM_032888.4(COL27A1):c.2809G>T (p.Gly937Ter) rs1832681636
NM_032888.4(COL27A1):c.2811A>G (p.Gly937=) rs2135475385
NM_032888.4(COL27A1):c.2819G>A (p.Gly940Glu)
NM_032888.4(COL27A1):c.2823G>C (p.Gln941His) rs2135475521
NM_032888.4(COL27A1):c.2826G>A (p.Leu942=)
NM_032888.4(COL27A1):c.2830C>T (p.Pro944Ser)
NM_032888.4(COL27A1):c.2832C>A (p.Pro944=)
NM_032888.4(COL27A1):c.2832C>G (p.Pro944=)
NM_032888.4(COL27A1):c.2835+10T>G rs2135475676
NM_032888.4(COL27A1):c.2835+14G>C
NM_032888.4(COL27A1):c.2835+15C>T rs771185118
NM_032888.4(COL27A1):c.2835+19C>G
NM_032888.4(COL27A1):c.2835+9G>A
NM_032888.4(COL27A1):c.2836-15G>A
NM_032888.4(COL27A1):c.2836-17G>A
NM_032888.4(COL27A1):c.2836-18C>G
NM_032888.4(COL27A1):c.2836-18C>T
NM_032888.4(COL27A1):c.2836-6T>C
NM_032888.4(COL27A1):c.2836-9C>T rs1393331147
NM_032888.4(COL27A1):c.2848C>A (p.Pro950Thr)
NM_032888.4(COL27A1):c.2859G>A (p.Pro953=) rs747181763
NM_032888.4(COL27A1):c.2868C>T (p.Ala956=)
NM_032888.4(COL27A1):c.2875T>C (p.Leu959=) rs1328839541
NM_032888.4(COL27A1):c.2880+11C>A
NM_032888.4(COL27A1):c.2880+16C>T
NM_032888.4(COL27A1):c.2880+1G>A rs1832811905
NM_032888.4(COL27A1):c.2880+7G>T
NM_032888.4(COL27A1):c.2881-13C>G
NM_032888.4(COL27A1):c.2881-15G>A
NM_032888.4(COL27A1):c.2881-4G>T
NM_032888.4(COL27A1):c.2881-7G>A rs2135488905
NM_032888.4(COL27A1):c.2881-9C>G
NM_032888.4(COL27A1):c.2881-9C>T rs1209694693
NM_032888.4(COL27A1):c.2889T>G (p.Pro963=) rs958806026
NM_032888.4(COL27A1):c.2910G>A (p.Gly970=)
NM_032888.4(COL27A1):c.2914C>T (p.Pro972Ser)
NM_032888.4(COL27A1):c.2928C>G (p.Gly976=) rs149117643
NM_032888.4(COL27A1):c.2928C>T (p.Gly976=) rs149117643
NM_032888.4(COL27A1):c.2931G>A (p.Val977=) rs1832907715
NM_032888.4(COL27A1):c.2934+10C>T rs2135489332
NM_032888.4(COL27A1):c.2934+12T>C
NM_032888.4(COL27A1):c.2934+14G>A
NM_032888.4(COL27A1):c.2934+15A>G
NM_032888.4(COL27A1):c.2934+19C>A
NM_032888.4(COL27A1):c.2934+20C>T
NM_032888.4(COL27A1):c.2934+9del rs2135489321
NM_032888.4(COL27A1):c.2935-13T>C
NM_032888.4(COL27A1):c.2935-16C>T rs2135501253
NM_032888.4(COL27A1):c.2935-18C>T
NM_032888.4(COL27A1):c.2935-4G>C
NM_032888.4(COL27A1):c.2940A>G (p.Glu980=)
NM_032888.4(COL27A1):c.2956C>T (p.Arg986Trp)
NM_032888.4(COL27A1):c.2957G>C (p.Arg986Pro)
NM_032888.4(COL27A1):c.2958G>T (p.Arg986=) rs1213916657
NM_032888.4(COL27A1):c.2960C>T (p.Pro987Leu) rs138913107
NM_032888.4(COL27A1):c.2961G>C (p.Pro987=) rs376303544
NM_032888.4(COL27A1):c.2979+12A>G
NM_032888.4(COL27A1):c.2979+13C>G
NM_032888.4(COL27A1):c.2979+13C>T
NM_032888.4(COL27A1):c.2979+14G>A
NM_032888.4(COL27A1):c.2979+15G>T
NM_032888.4(COL27A1):c.2979+17C>G
NM_032888.4(COL27A1):c.2979+4A>G
NM_032888.4(COL27A1):c.297A>G (p.Ala99=)
NM_032888.4(COL27A1):c.2980-15G>A
NM_032888.4(COL27A1):c.2980-15G>C
NM_032888.4(COL27A1):c.2980-17G>A rs747824063
NM_032888.4(COL27A1):c.2980-17G>T
NM_032888.4(COL27A1):c.2980-18C>T
NM_032888.4(COL27A1):c.2980-18del
NM_032888.4(COL27A1):c.2980-2A>G rs2135522530
NM_032888.4(COL27A1):c.2980-4A>G
NM_032888.4(COL27A1):c.2980-5C>T rs2135522497
NM_032888.4(COL27A1):c.2980-5del
NM_032888.4(COL27A1):c.2980-8T>C
NM_032888.4(COL27A1):c.2980-9G>T rs1389530210
NM_032888.4(COL27A1):c.2985T>C (p.Phe995=)
NM_032888.4(COL27A1):c.3006C>T (p.Val1002=) rs761346888
NM_032888.4(COL27A1):c.3021C>T (p.Ile1007=)
NM_032888.4(COL27A1):c.3022G>A (p.Val1008Met) rs139143802
NM_032888.4(COL27A1):c.3033+13G>C
NM_032888.4(COL27A1):c.3033+16G>A
NM_032888.4(COL27A1):c.3033+17G>A rs774710723
NM_032888.4(COL27A1):c.3033+17G>T
NM_032888.4(COL27A1):c.3033+2T>G
NM_032888.4(COL27A1):c.3034-13G>C
NM_032888.4(COL27A1):c.3034-7A>G
NM_032888.4(COL27A1):c.3034-9C>T
NM_032888.4(COL27A1):c.3041G>A (p.Arg1014His)
NM_032888.4(COL27A1):c.3055C>T (p.Pro1019Ser)
NM_032888.4(COL27A1):c.3063C>A (p.Gly1021=) rs752893883
NM_032888.4(COL27A1):c.3078G>A (p.Lys1026=)
NM_032888.4(COL27A1):c.3083C>T (p.Ser1028Leu)
NM_032888.4(COL27A1):c.3083dup (p.Met1029fs) rs2135531602
NM_032888.4(COL27A1):c.3087+18A>G
NM_032888.4(COL27A1):c.3087+19T>C
NM_032888.4(COL27A1):c.3087+20C>T rs2135531701
NM_032888.4(COL27A1):c.3088-4G>A rs371259762
NM_032888.4(COL27A1):c.3088-4G>T rs371259762
NM_032888.4(COL27A1):c.3088-5G>C rs1443835101
NM_032888.4(COL27A1):c.3108T>C (p.Gly1036=)
NM_032888.4(COL27A1):c.311T>C (p.Leu104Pro)
NM_032888.4(COL27A1):c.3120C>A (p.Thr1040=) rs2135532727
NM_032888.4(COL27A1):c.3126A>G (p.Gly1042=) rs2135532810
NM_032888.4(COL27A1):c.3129G>A (p.Glu1043=)
NM_032888.4(COL27A1):c.3129_3130delinsTT (p.Glu1043_Pro1044delinsAspSer)
NM_032888.4(COL27A1):c.312C>G (p.Leu104=) rs760243902
NM_032888.4(COL27A1):c.3135A>G (p.Gly1045=)
NM_032888.4(COL27A1):c.3141+10G>A
NM_032888.4(COL27A1):c.3141+15C>T
NM_032888.4(COL27A1):c.3141+16G>A
NM_032888.4(COL27A1):c.3141+18G>T
NM_032888.4(COL27A1):c.3141+19A>G
NM_032888.4(COL27A1):c.3142-10C>A rs750140408
NM_032888.4(COL27A1):c.3142-11C>T
NM_032888.4(COL27A1):c.3142-15_3142-12del
NM_032888.4(COL27A1):c.3142-17C>T
NM_032888.4(COL27A1):c.3142-18T>C
NM_032888.4(COL27A1):c.3142-1G>A
NM_032888.4(COL27A1):c.3142-5C>T
NM_032888.4(COL27A1):c.3144T>C (p.Gly1048=)
NM_032888.4(COL27A1):c.3147T>C (p.Pro1049=) rs2135560523
NM_032888.4(COL27A1):c.3153A>C (p.Gly1051=) rs1352599738
NM_032888.4(COL27A1):c.3156T>C (p.Ser1052=)
NM_032888.4(COL27A1):c.3157C>T (p.Arg1053Ter)
NM_032888.4(COL27A1):c.3177G>A (p.Arg1059=) rs2135560741
NM_032888.4(COL27A1):c.3186G>A (p.Lys1062=)
NM_032888.4(COL27A1):c.3189A>T (p.Gly1063=) rs2135560763
NM_032888.4(COL27A1):c.3195+12C>A
NM_032888.4(COL27A1):c.3195+16C>T
NM_032888.4(COL27A1):c.3195+1G>A
NM_032888.4(COL27A1):c.3195+2T>G
NM_032888.4(COL27A1):c.3195+7C>G
NM_032888.4(COL27A1):c.3195+8G>T rs75890035
NM_032888.4(COL27A1):c.3196-16C>T
NM_032888.4(COL27A1):c.3196-1G>A rs1588816777
NM_032888.4(COL27A1):c.3196-4C>A
NM_032888.4(COL27A1):c.3196-8T>C
NM_032888.4(COL27A1):c.3196-8dup
NM_032888.4(COL27A1):c.3198C>T (p.Gly1066=)
NM_032888.4(COL27A1):c.3201C>G (p.Pro1067=) rs2135591234
NM_032888.4(COL27A1):c.3209C>T (p.Pro1070Leu)
NM_032888.4(COL27A1):c.3210G>A (p.Pro1070=) rs149608372
NM_032888.4(COL27A1):c.3210G>C (p.Pro1070=) rs149608372
NM_032888.4(COL27A1):c.321C>T (p.His107=) rs1380503649
NM_032888.4(COL27A1):c.3229C>G (p.Gln1077Glu) rs2135591451
NM_032888.4(COL27A1):c.322C>T (p.Arg108Trp)
NM_032888.4(COL27A1):c.3234G>A (p.Gly1078=)
NM_032888.4(COL27A1):c.3234G>C (p.Gly1078=)
NM_032888.4(COL27A1):c.323G>C (p.Arg108Pro)
NM_032888.4(COL27A1):c.3243C>T (p.Gly1081=)
NM_032888.4(COL27A1):c.3244C>T (p.Leu1082=)
NM_032888.4(COL27A1):c.3248del (p.Lys1083fs) rs2135591632
NM_032888.4(COL27A1):c.3249+16A>C
NM_032888.4(COL27A1):c.3249+18C>G
NM_032888.4(COL27A1):c.3249+4C>T
NM_032888.4(COL27A1):c.3249+9C>T rs1834584674
NM_032888.4(COL27A1):c.324G>A (p.Arg108=) rs2135071307
NM_032888.4(COL27A1):c.3250-10C>T rs2135594025
NM_032888.4(COL27A1):c.3250-11G>A
NM_032888.4(COL27A1):c.3250-15C>T
NM_032888.4(COL27A1):c.3250-19C>T
NM_032888.4(COL27A1):c.3250-2A>G rs2135594065
NM_032888.4(COL27A1):c.3258A>G (p.Pro1086=) rs1834629457
NM_032888.4(COL27A1):c.3265C>T (p.Gln1089Ter)
NM_032888.4(COL27A1):c.3276G>T (p.Pro1092=) rs140175927
NM_032888.4(COL27A1):c.3282G>A (p.Arg1094=) rs2135594301
NM_032888.4(COL27A1):c.3288A>G (p.Gly1096=)
NM_032888.4(COL27A1):c.3291G>A (p.Gln1097=) rs1434815944
NM_032888.4(COL27A1):c.3294+10G>T
NM_032888.4(COL27A1):c.3294+16G>A
NM_032888.4(COL27A1):c.3294+16G>C
NM_032888.4(COL27A1):c.3294+7C>T
NM_032888.4(COL27A1):c.3295-12A>G
NM_032888.4(COL27A1):c.3295-13C>T
NM_032888.4(COL27A1):c.3295-15C>G
NM_032888.4(COL27A1):c.3295-15C>T
NM_032888.4(COL27A1):c.3295-19C>A
NM_032888.4(COL27A1):c.3295-4C>G rs1834640611
NM_032888.4(COL27A1):c.3310C>T (p.Arg1104Ter)
NM_032888.4(COL27A1):c.3312A>G (p.Arg1104=)
NM_032888.4(COL27A1):c.3316C>T (p.His1106Tyr)
NM_032888.4(COL27A1):c.3318C>T (p.His1106=)
NM_032888.4(COL27A1):c.3319T>C (p.Leu1107=)
NM_032888.4(COL27A1):c.3321G>T (p.Leu1107Phe)
NM_032888.4(COL27A1):c.3327G>A (p.Ser1109=) rs201604319
NM_032888.4(COL27A1):c.3327G>C (p.Ser1109=) rs201604319
NM_032888.4(COL27A1):c.3327G>T (p.Ser1109=) rs201604319
NM_032888.4(COL27A1):c.3333C>G (p.Gly1111=)
NM_032888.4(COL27A1):c.3339+14del
NM_032888.4(COL27A1):c.3339+16T>C
NM_032888.4(COL27A1):c.3339+17C>A
NM_032888.4(COL27A1):c.3339+18T>G
NM_032888.4(COL27A1):c.3339+20G>A
NM_032888.4(COL27A1):c.3339+2T>C
NM_032888.4(COL27A1):c.3339+9_3339+10delinsTT rs2135595153
NM_032888.4(COL27A1):c.3340-10G>T
NM_032888.4(COL27A1):c.3340-4G>T
NM_032888.4(COL27A1):c.3340-8C>T
NM_032888.4(COL27A1):c.3347C>A (p.Pro1116Gln) rs7048607
NM_032888.4(COL27A1):c.3348G>T (p.Pro1116=) rs779262299
NM_032888.4(COL27A1):c.334G>A (p.Ala112Thr) rs2135071428
NM_032888.4(COL27A1):c.3354C>T (p.Pro1118=)
NM_032888.4(COL27A1):c.3360C>A (p.Gly1120=)
NM_032888.4(COL27A1):c.3361C>T (p.Pro1121Ser)
NM_032888.4(COL27A1):c.3365del (p.Pro1122fs)
NM_032888.4(COL27A1):c.3365dup (p.Gly1123fs) rs1431754712
NM_032888.4(COL27A1):c.3375G>A (p.Lys1125=)
NM_032888.4(COL27A1):c.3377del (p.Gly1126fs)
NM_032888.4(COL27A1):c.3378C>T (p.Gly1126=)
NM_032888.4(COL27A1):c.3392C>T (p.Pro1131Leu)
NM_032888.4(COL27A1):c.3393+17T>C rs2135597148
NM_032888.4(COL27A1):c.3393G>A (p.Pro1131=)
NM_032888.4(COL27A1):c.3394-13G>C
NM_032888.4(COL27A1):c.3394-18TGTC[2]
NM_032888.4(COL27A1):c.3394-18TGTC[4] rs1554820586
NM_032888.4(COL27A1):c.3402G>A (p.Gln1134=) rs2135601925
NM_032888.4(COL27A1):c.3419T>C (p.Ile1140Thr)
NM_032888.4(COL27A1):c.3423G>A (p.Gly1141=)
NM_032888.4(COL27A1):c.3423G>T (p.Gly1141=)
NM_032888.4(COL27A1):c.3441A>T (p.Gly1147=)
NM_032888.4(COL27A1):c.3447+11G>A
NM_032888.4(COL27A1):c.3447+13G>A
NM_032888.4(COL27A1):c.3447+17C>G
NM_032888.4(COL27A1):c.3447+17C>T
NM_032888.4(COL27A1):c.3447+17dup
NM_032888.4(COL27A1):c.3447+22_3447+30del
NM_032888.4(COL27A1):c.3447+2T>C
NM_032888.4(COL27A1):c.3448-14G>T
NM_032888.4(COL27A1):c.3448-16T>C
NM_032888.4(COL27A1):c.3450G>A (p.Gly1150=)
NM_032888.4(COL27A1):c.3453G>A (p.Pro1151=) rs377713952
NM_032888.4(COL27A1):c.3453G>T (p.Pro1151=) rs377713952
NM_032888.4(COL27A1):c.3459T>C (p.Gly1153=) rs1211942742
NM_032888.4(COL27A1):c.3462A>G (p.Ala1154=)
NM_032888.4(COL27A1):c.3474G>A (p.Pro1158=) rs930512491
NM_032888.4(COL27A1):c.3474G>C (p.Pro1158=) rs930512491
NM_032888.4(COL27A1):c.3477C>A (p.Gly1159=) rs571291463
NM_032888.4(COL27A1):c.3477C>G (p.Gly1159=)
NM_032888.4(COL27A1):c.3478C>T (p.Leu1160Phe)
NM_032888.4(COL27A1):c.3495G>A (p.Gly1165=) rs2135609810
NM_032888.4(COL27A1):c.3501+10G>A rs2135609916
NM_032888.4(COL27A1):c.3501+13G>A
NM_032888.4(COL27A1):c.3501+17G>C
NM_032888.4(COL27A1):c.3501+20G>A
NM_032888.4(COL27A1):c.3502-13C>T
NM_032888.4(COL27A1):c.3502-4C>G rs372355045
NM_032888.4(COL27A1):c.3502-5C>T rs1834956919
NM_032888.4(COL27A1):c.3502-7C>T rs2135622809
NM_032888.4(COL27A1):c.3502-8del rs2135622797
NM_032888.4(COL27A1):c.3518_3519insAGGG (p.Thr1175fs) rs2135622964
NM_032888.4(COL27A1):c.3525T>C (p.Thr1175=) rs2135623044
NM_032888.4(COL27A1):c.3536A>G (p.Gln1179Arg)
NM_032888.4(COL27A1):c.353G>A (p.Arg118His)
NM_032888.4(COL27A1):c.3543C>T (p.Leu1181=)
NM_032888.4(COL27A1):c.3549G>A (p.Gly1183=)
NM_032888.4(COL27A1):c.354C>T (p.Arg118=) rs775558821
NM_032888.4(COL27A1):c.3553C>T (p.Arg1185Trp)
NM_032888.4(COL27A1):c.3555+10A>G rs1588833658
NM_032888.4(COL27A1):c.3555+10del
NM_032888.4(COL27A1):c.3555+11G>C
NM_032888.4(COL27A1):c.3555+14A>G
NM_032888.4(COL27A1):c.3555+16T>G
NM_032888.4(COL27A1):c.3555+9_3555+20del rs2135623417
NM_032888.4(COL27A1):c.3556-9C>T
NM_032888.4(COL27A1):c.3556-9del rs1434567064
NM_032888.4(COL27A1):c.3567C>A (p.Gly1189=) rs781010065
NM_032888.4(COL27A1):c.3567C>G (p.Gly1189=) rs781010065
NM_032888.4(COL27A1):c.3573G>A (p.Glu1191=)
NM_032888.4(COL27A1):c.3576T>G (p.Gly1192=)
NM_032888.4(COL27A1):c.3577G>T (p.Asp1193Tyr) rs1343744535
NM_032888.4(COL27A1):c.3579C>T (p.Asp1193=)
NM_032888.4(COL27A1):c.3594A>T (p.Gly1198=)
NM_032888.4(COL27A1):c.3597T>C (p.Pro1199=)
NM_032888.4(COL27A1):c.3598G>C (p.Asp1200His)
NM_032888.4(COL27A1):c.3609+10C>G rs777002311
NM_032888.4(COL27A1):c.3609+10C>T rs777002311
NM_032888.4(COL27A1):c.3609+12T>C
NM_032888.4(COL27A1):c.3609+1G>T rs2135633751
NM_032888.4(COL27A1):c.3609+20del
NM_032888.4(COL27A1):c.3609+2T>A
NM_032888.4(COL27A1):c.3609+9C>T
NM_032888.4(COL27A1):c.3610-12C>A
NM_032888.4(COL27A1):c.3610-16A>T
NM_032888.4(COL27A1):c.3610-20C>A
NM_032888.4(COL27A1):c.3610-20C>T
NM_032888.4(COL27A1):c.3610-2A>G rs2135665946
NM_032888.4(COL27A1):c.3610-4C>G
NM_032888.4(COL27A1):c.3610-8C>T rs1346957370
NM_032888.4(COL27A1):c.3612G>A (p.Gly1204=)
NM_032888.4(COL27A1):c.3615C>T (p.Asp1205=) rs2135666072
NM_032888.4(COL27A1):c.3622G>C (p.Asp1208His)
NM_032888.4(COL27A1):c.3627A>C (p.Pro1209=) rs2135666179
NM_032888.4(COL27A1):c.3630G>C (p.Gly1210=) rs756863578
NM_032888.4(COL27A1):c.363A>G (p.Lys121=) rs1322505916
NM_032888.4(COL27A1):c.3642A>G (p.Glu1214=)
NM_032888.4(COL27A1):c.3645T>C (p.His1215=)
NM_032888.4(COL27A1):c.3651G>A (p.Glu1217=) rs868486393
NM_032888.4(COL27A1):c.365G>A (p.Arg122His)
NM_032888.4(COL27A1):c.3680_3692del (p.Asp1227fs) rs2135666480
NM_032888.4(COL27A1):c.3685C>T (p.Pro1229Ser)
NM_032888.4(COL27A1):c.3687C>T (p.Pro1229=)
NM_032888.4(COL27A1):c.3689_3690delinsAT (p.Pro1230His)
NM_032888.4(COL27A1):c.3690dup (p.Gly1231fs)
NM_032888.4(COL27A1):c.3693C>A (p.Gly1231=) rs1270271257
NM_032888.4(COL27A1):c.3693C>G (p.Gly1231=)
NM_032888.4(COL27A1):c.3693C>T (p.Gly1231=)
NM_032888.4(COL27A1):c.3698dup (p.Gly1234fs)
NM_032888.4(COL27A1):c.3699T>A (p.Pro1233=)
NM_032888.4(COL27A1):c.3699T>C (p.Pro1233=)
NM_032888.4(COL27A1):c.3700G>A (p.Gly1234Ser) rs2135666898
NM_032888.4(COL27A1):c.3703G>A (p.Val1235Ile)
NM_032888.4(COL27A1):c.3705C>T (p.Val1235=)
NM_032888.4(COL27A1):c.3717+11A>G
NM_032888.4(COL27A1):c.3717+16C>G
NM_032888.4(COL27A1):c.3717+16C>T
NM_032888.4(COL27A1):c.3717+17C>T
NM_032888.4(COL27A1):c.3717+20G>A
NM_032888.4(COL27A1):c.3718-12C>T
NM_032888.4(COL27A1):c.3718-13C>T
NM_032888.4(COL27A1):c.3718-15C>T
NM_032888.4(COL27A1):c.3718-6C>T rs2135701803
NM_032888.4(COL27A1):c.3718-7T>C rs1588865280
NM_032888.4(COL27A1):c.372G>T (p.Leu124=)
NM_032888.4(COL27A1):c.3735A>G (p.Ser1245=)
NM_032888.4(COL27A1):c.3738G>A (p.Gly1246=) rs531450041
NM_032888.4(COL27A1):c.3738G>C (p.Gly1246=)
NM_032888.4(COL27A1):c.373C>A (p.Gln125Lys)
NM_032888.4(COL27A1):c.3747C>G (p.Gly1249=)
NM_032888.4(COL27A1):c.3756C>A (p.Gly1252=) rs2135701982
NM_032888.4(COL27A1):c.3757C>T (p.Arg1253Cys)
NM_032888.4(COL27A1):c.3758G>A (p.Arg1253His) rs200928771
NM_032888.4(COL27A1):c.3758G>T (p.Arg1253Leu) rs200928771
NM_032888.4(COL27A1):c.3771+10C>G rs370592567
NM_032888.4(COL27A1):c.3771+10C>T rs370592567
NM_032888.4(COL27A1):c.3771+16T>C
NM_032888.4(COL27A1):c.3771+17G>T
NM_032888.4(COL27A1):c.3771+2T>C rs1436944837
NM_032888.4(COL27A1):c.3771+2_3771+3delinsAG rs2135702107
NM_032888.4(COL27A1):c.3772-10C>G rs1835978364
NM_032888.4(COL27A1):c.3772-12C>T
NM_032888.4(COL27A1):c.3774T>A (p.Gly1258=)
NM_032888.4(COL27A1):c.3780G>A (p.Lys1260=) rs2135702928
NM_032888.4(COL27A1):c.3783C>T (p.Gly1261=)
NM_032888.4(COL27A1):c.3786_3787delinsCT (p.Gln1263Ter)
NM_032888.4(COL27A1):c.3806T>C (p.Met1269Thr) rs2135703042
NM_032888.4(COL27A1):c.3811G>A (p.Val1271Ile)
NM_032888.4(COL27A1):c.3821A>T (p.Asp1274Val) rs2135703148
NM_032888.4(COL27A1):c.3825T>A (p.Pro1275=)
NM_032888.4(COL27A1):c.3834T>G (p.Pro1278=)
NM_032888.4(COL27A1):c.3840T>C (p.Thr1280=)
NM_032888.4(COL27A1):c.3849T>C (p.Pro1283=)
NM_032888.4(COL27A1):c.3863del (p.Gly1288fs)
NM_032888.4(COL27A1):c.3864C>T (p.Gly1288=)
NM_032888.4(COL27A1):c.3868C>T (p.Leu1290=)
NM_032888.4(COL27A1):c.3876A>G (p.Pro1292=) rs2135703556
NM_032888.4(COL27A1):c.3879+10C>G rs1835989104
NM_032888.4(COL27A1):c.3879+12C>G
NM_032888.4(COL27A1):c.3879+18G>A
NM_032888.4(COL27A1):c.3879+19G>C
NM_032888.4(COL27A1):c.3880-12C>T
NM_032888.4(COL27A1):c.3880-15C>G
NM_032888.4(COL27A1):c.3880-15CTC[2]
NM_032888.4(COL27A1):c.3880-17G>T
NM_032888.4(COL27A1):c.3880-18G>T
NM_032888.4(COL27A1):c.3880-6T>C rs370181634
NM_032888.4(COL27A1):c.3885T>C (p.Ala1295=) rs774308816
NM_032888.4(COL27A1):c.3887C>T (p.Pro1296Leu)
NM_032888.4(COL27A1):c.3906A>G (p.Gln1302=)
NM_032888.4(COL27A1):c.3917del (p.Gly1306fs) rs1836077490
NM_032888.4(COL27A1):c.3933+12T>C
NM_032888.4(COL27A1):c.3933+14A>C
NM_032888.4(COL27A1):c.3933+15C>A
NM_032888.4(COL27A1):c.3933+16C>T
NM_032888.4(COL27A1):c.3933+20C>G
NM_032888.4(COL27A1):c.3933+20C>T
NM_032888.4(COL27A1):c.3933+23del
NM_032888.4(COL27A1):c.3934-13T>C
NM_032888.4(COL27A1):c.3934-15_3934-13del
NM_032888.4(COL27A1):c.3934-17T>G
NM_032888.4(COL27A1):c.3934-19C>T
NM_032888.4(COL27A1):c.3934-4G>A
NM_032888.4(COL27A1):c.3950T>C (p.Val1317Ala)
NM_032888.4(COL27A1):c.3957C>T (p.Pro1319=) rs2131600635
NM_032888.4(COL27A1):c.395C>T (p.Pro132Leu)
NM_032888.4(COL27A1):c.3966T>A (p.Pro1322=)
NM_032888.4(COL27A1):c.3969T>C (p.Pro1323=) rs2131600708
NM_032888.4(COL27A1):c.3972A>C (p.Gly1324=) rs147328458
NM_032888.4(COL27A1):c.3972A>G (p.Gly1324=) rs147328458
NM_032888.4(COL27A1):c.3987+11G>A
NM_032888.4(COL27A1):c.3987+7G>A rs2131600827
NM_032888.4(COL27A1):c.399C>G (p.Gly133=)
NM_032888.4(COL27A1):c.39G>A (p.Ala13=)
NM_032888.4(COL27A1):c.408C>A (p.Val136=) rs146589272
NM_032888.4(COL27A1):c.408C>G (p.Val136=)
NM_032888.4(COL27A1):c.409G>A (p.Val137Ile)
NM_032888.4(COL27A1):c.411C>A (p.Val137=) rs2135072222
NM_032888.4(COL27A1):c.414C>T (p.His138=) rs2135072287
NM_032888.4(COL27A1):c.417C>A (p.Leu139=)
NM_032888.4(COL27A1):c.418G>A (p.Gly140Arg)
NM_032888.4(COL27A1):c.4207-18T>C
NM_032888.4(COL27A1):c.4207-2del
NM_032888.4(COL27A1):c.4207-4T>G
NM_032888.4(COL27A1):c.420G>T (p.Gly140=) rs1418892658
NM_032888.4(COL27A1):c.4210C>A (p.Pro1404Thr)
NM_032888.4(COL27A1):c.4215G>A (p.Lys1405=)
NM_032888.4(COL27A1):c.4230G>A (p.Lys1410=) rs2131623125
NM_032888.4(COL27A1):c.4236G>A (p.Gly1412=) rs2131623167
NM_032888.4(COL27A1):c.423C>T (p.Ser141=) rs2135072423
NM_032888.4(COL27A1):c.4246C>T (p.Arg1416Trp)
NM_032888.4(COL27A1):c.4247G>A (p.Arg1416Gln)
NM_032888.4(COL27A1):c.4248G>T (p.Arg1416=) rs2131623270
NM_032888.4(COL27A1):c.4251G>A (p.Arg1417=)
NM_032888.4(COL27A1):c.4255del (p.Val1419fs)
NM_032888.4(COL27A1):c.4257C>G (p.Val1419=) rs2131623350
NM_032888.4(COL27A1):c.4257C>T (p.Val1419=)
NM_032888.4(COL27A1):c.4260+13A>G
NM_032888.4(COL27A1):c.4260+14G>C
NM_032888.4(COL27A1):c.4260+15C>G
NM_032888.4(COL27A1):c.4260+17G>A
NM_032888.4(COL27A1):c.4261-11G>A
NM_032888.4(COL27A1):c.4261-19C>A
NM_032888.4(COL27A1):c.4261-19C>T
NM_032888.4(COL27A1):c.4261-3del rs1272299980
NM_032888.4(COL27A1):c.4261-3dup rs1272299980
NM_032888.4(COL27A1):c.4261-4C>T
NM_032888.4(COL27A1):c.4261-5C>G
NM_032888.4(COL27A1):c.4261-6C>T
NM_032888.4(COL27A1):c.4261-7C>A
NM_032888.4(COL27A1):c.4261-7C>T rs372705586
NM_032888.4(COL27A1):c.4261-8C>A
NM_032888.4(COL27A1):c.4261-9A>G
NM_032888.4(COL27A1):c.4263C>T (p.Gly1421=)
NM_032888.4(COL27A1):c.426G>A (p.Arg142=)
NM_032888.4(COL27A1):c.4272G>A (p.Gly1424=)
NM_032888.4(COL27A1):c.4275G>A (p.Leu1425=)
NM_032888.4(COL27A1):c.4275G>T (p.Leu1425=)
NM_032888.4(COL27A1):c.4276C>T (p.Pro1426Ser)
NM_032888.4(COL27A1):c.4281G>A (p.Gly1427=) rs2131624301
NM_032888.4(COL27A1):c.4285C>A (p.Arg1429=) rs200170613
NM_032888.4(COL27A1):c.4291G>A (p.Val1431Met)
NM_032888.4(COL27A1):c.4296G>A (p.Val1432=) rs1186150376
NM_032888.4(COL27A1):c.4299G>A (p.Gly1433=)
NM_032888.4(COL27A1):c.4299G>T (p.Gly1433=)
NM_032888.4(COL27A1):c.42G>A (p.Ala14=)
NM_032888.4(COL27A1):c.42G>T (p.Ala14=) rs1848094842
NM_032888.4(COL27A1):c.4300dup (p.Arg1434fs)
NM_032888.4(COL27A1):c.4305G>A (p.Gln1435=)
NM_032888.4(COL27A1):c.4308C>T (p.Gly1436=)
NM_032888.4(COL27A1):c.4311C>A (p.Leu1437=) rs769625189
NM_032888.4(COL27A1):c.4311C>G (p.Leu1437=) rs769625189
NM_032888.4(COL27A1):c.4311C>T (p.Leu1437=) rs769625189
NM_032888.4(COL27A1):c.4317C>T (p.Gly1439=)
NM_032888.4(COL27A1):c.4326A>G (p.Gly1442=) rs561100265
NM_032888.4(COL27A1):c.4339C>A (p.Pro1447Thr)
NM_032888.4(COL27A1):c.4347G>A (p.Arg1449=) rs2131624777
NM_032888.4(COL27A1):c.4351G>A (p.Gly1451Arg)
NM_032888.4(COL27A1):c.4351G>C (p.Gly1451Arg) rs761876047
NM_032888.4(COL27A1):c.4357dup (p.Ala1453fs)
NM_032888.4(COL27A1):c.4368+15G>C
NM_032888.4(COL27A1):c.4368+17_4368+32del
NM_032888.4(COL27A1):c.4369-11T>C
NM_032888.4(COL27A1):c.4369-13G>T
NM_032888.4(COL27A1):c.4369-19C>A
NM_032888.4(COL27A1):c.4369-2_4369-1del rs2131627071
NM_032888.4(COL27A1):c.4369-7T>C
NM_032888.4(COL27A1):c.4374G>A (p.Glu1458=) rs1827860254
NM_032888.4(COL27A1):c.4389G>C (p.Gly1463=)
NM_032888.4(COL27A1):c.438C>T (p.Ala146=)
NM_032888.4(COL27A1):c.4392C>T (p.Asp1464=)
NM_032888.4(COL27A1):c.4398C>A (p.Gly1466=) rs1238571660
NM_032888.4(COL27A1):c.4443C>T (p.Gly1481=)
NM_032888.4(COL27A1):c.4452A>G (p.Gly1484=) rs2131627370
NM_032888.4(COL27A1):c.4464C>G (p.Pro1488=)
NM_032888.4(COL27A1):c.4465C>A (p.Pro1489Thr)
NM_032888.4(COL27A1):c.4470A>G (p.Gly1490=) rs2131627480
NM_032888.4(COL27A1):c.4472T>C (p.Phe1491Ser)
NM_032888.4(COL27A1):c.4476+14del
NM_032888.4(COL27A1):c.4476+20A>G
NM_032888.4(COL27A1):c.4477-13G>T
NM_032888.4(COL27A1):c.4477-5T>C
NM_032888.4(COL27A1):c.4477-7C>A rs2131632589
NM_032888.4(COL27A1):c.4477-7C>T rs2131632589
NM_032888.4(COL27A1):c.4479T>A (p.Gly1493=) rs1588883937
NM_032888.4(COL27A1):c.4488G>A (p.Gly1496=) rs2131632666
NM_032888.4(COL27A1):c.4494C>G (p.Pro1498=)
NM_032888.4(COL27A1):c.4501C>T (p.Leu1501=)
NM_032888.4(COL27A1):c.4503G>A (p.Leu1501=)
NM_032888.4(COL27A1):c.4507C>T (p.Pro1503Ser)
NM_032888.4(COL27A1):c.4509C>T (p.Pro1503=)
NM_032888.4(COL27A1):c.4515C>A (p.Gly1505=)
NM_032888.4(COL27A1):c.4515C>G (p.Gly1505=) rs1215346305
NM_032888.4(COL27A1):c.4519C>T (p.Arg1507Ter) rs1289391715
NM_032888.4(COL27A1):c.4520G>A (p.Arg1507Gln)
NM_032888.4(COL27A1):c.4523G>T (p.Gly1508Val)
NM_032888.4(COL27A1):c.4526C>G (p.Thr1509Arg) rs777646313
NM_032888.4(COL27A1):c.4538C>T (p.Thr1513Met)
NM_032888.4(COL27A1):c.4542G>A (p.Gly1514=)
NM_032888.4(COL27A1):c.4550G>C (p.Gly1517Ala)
NM_032888.4(COL27A1):c.4551A>G (p.Gly1517=) rs774706427
NM_032888.4(COL27A1):c.4560G>A (p.Gly1520=) rs983216780
NM_032888.4(COL27A1):c.4560_4561del (p.Glu1521fs)
NM_032888.4(COL27A1):c.4561G>T (p.Glu1521Ter)
NM_032888.4(COL27A1):c.4569G>A (p.Gly1523=)
NM_032888.4(COL27A1):c.4569G>T (p.Gly1523=)
NM_032888.4(COL27A1):c.457G>A (p.Asp153Asn)
NM_032888.4(COL27A1):c.4583C>T (p.Pro1528Leu)
NM_032888.4(COL27A1):c.4584+10C>A
NM_032888.4(COL27A1):c.4584+11G>A
NM_032888.4(COL27A1):c.4584+11G>C
NM_032888.4(COL27A1):c.4584+14A>G
NM_032888.4(COL27A1):c.4584+2T>A
NM_032888.4(COL27A1):c.4584+2T>C
NM_032888.4(COL27A1):c.4585-11T>C
NM_032888.4(COL27A1):c.4585-12T>C
NM_032888.4(COL27A1):c.4585-13G>C
NM_032888.4(COL27A1):c.4585-4G>T
NM_032888.4(COL27A1):c.4585-5T>C rs776600654
NM_032888.4(COL27A1):c.4585-7C>G
NM_032888.4(COL27A1):c.4587C>T (p.Gly1529=)
NM_032888.4(COL27A1):c.4593T>A (p.Ser1531=) rs2131658983
NM_032888.4(COL27A1):c.4596C>A (p.Gly1532=)
NM_032888.4(COL27A1):c.45G>A (p.Ala15=) rs2134975860
NM_032888.4(COL27A1):c.4618G>A (p.Ala1540Thr)
NM_032888.4(COL27A1):c.4638+12C>G
NM_032888.4(COL27A1):c.4638+14C>G
NM_032888.4(COL27A1):c.4638+14C>T
NM_032888.4(COL27A1):c.4638+15G>A
NM_032888.4(COL27A1):c.4638+15G>T
NM_032888.4(COL27A1):c.4638+9T>C
NM_032888.4(COL27A1):c.4639-10C>T rs1289037697
NM_032888.4(COL27A1):c.4639-13C>T
NM_032888.4(COL27A1):c.4639-14T>A
NM_032888.4(COL27A1):c.4639-14T>G
NM_032888.4(COL27A1):c.4639-15C>A
NM_032888.4(COL27A1):c.4639-15C>T
NM_032888.4(COL27A1):c.4639-20C>T rs754309718
NM_032888.4(COL27A1):c.4639-7C>T rs2131661060
NM_032888.4(COL27A1):c.4639-9C>A
NM_032888.4(COL27A1):c.4639-9C>T
NM_032888.4(COL27A1):c.4644G>T (p.Pro1548=) rs758523198
NM_032888.4(COL27A1):c.4655T>C (p.Ile1552Thr)
NM_032888.4(COL27A1):c.4658G>T (p.Gly1553Val)
NM_032888.4(COL27A1):c.4662C>T (p.Phe1554=) rs1828551354
NM_032888.4(COL27A1):c.4669A>T (p.Ile1557Phe)
NM_032888.4(COL27A1):c.4671C>A (p.Ile1557=)
NM_032888.4(COL27A1):c.4672C>T (p.Gln1558Ter)
NM_032888.4(COL27A1):c.4680T>C (p.Pro1560=)
NM_032888.4(COL27A1):c.4686G>A (p.Gly1562=) rs773127115
NM_032888.4(COL27A1):c.4687C>T (p.Pro1563Ser)
NM_032888.4(COL27A1):c.4689A>G (p.Pro1563=) rs2131661311
NM_032888.4(COL27A1):c.4692T>C (p.Pro1564=) rs2131661320
NM_032888.4(COL27A1):c.4701+12C>A
NM_032888.4(COL27A1):c.4701+14C>T
NM_032888.4(COL27A1):c.4701+7T>A rs2131661346
NM_032888.4(COL27A1):c.4701+7T>C rs2131661346
NM_032888.4(COL27A1):c.4701+8C>A
NM_032888.4(COL27A1):c.4702-16T>C
NM_032888.4(COL27A1):c.4702-17del
NM_032888.4(COL27A1):c.4702-18C>T
NM_032888.4(COL27A1):c.4702-19G>A
NM_032888.4(COL27A1):c.4702-7C>G rs1315583860
NM_032888.4(COL27A1):c.4713C>A (p.Gly1571=)
NM_032888.4(COL27A1):c.4713C>T (p.Gly1571=)
NM_032888.4(COL27A1):c.4717G>A (p.Val1573Ile)
NM_032888.4(COL27A1):c.471C>T (p.His157=) rs2135072983
NM_032888.4(COL27A1):c.4722G>T (p.Gly1574=)
NM_032888.4(COL27A1):c.4728C>A (p.Leu1576=)
NM_032888.4(COL27A1):c.4729G>T (p.Gly1577Ter)
NM_032888.4(COL27A1):c.4737G>A (p.Leu1579=)
NM_032888.4(COL27A1):c.4741C>A (p.Pro1581Thr)
NM_032888.4(COL27A1):c.4746G>C (p.Ser1582=)
NM_032888.4(COL27A1):c.4752C>T (p.Leu1584=) rs182652506
NM_032888.4(COL27A1):c.4755+13A>T
NM_032888.4(COL27A1):c.4755+14T>C
NM_032888.4(COL27A1):c.4755+20A>G
NM_032888.4(COL27A1):c.4755+7G>A
NM_032888.4(COL27A1):c.4755+7G>T rs1043216733
NM_032888.4(COL27A1):c.4755G>C (p.Pro1585=)
NM_032888.4(COL27A1):c.4756-10T>A
NM_032888.4(COL27A1):c.4756-13dup
NM_032888.4(COL27A1):c.4756-14G>A
NM_032888.4(COL27A1):c.4756-16C>T
NM_032888.4(COL27A1):c.4756-17G>T
NM_032888.4(COL27A1):c.4756-4G>A
NM_032888.4(COL27A1):c.4756-4G>T
NM_032888.4(COL27A1):c.475C>T (p.Leu159=) rs1277126499
NM_032888.4(COL27A1):c.4760del (p.Pro1587fs) rs2131663679
NM_032888.4(COL27A1):c.4770C>T (p.Asp1590=)
NM_032888.4(COL27A1):c.4779C>T (p.Ser1593=) rs1291141123
NM_032888.4(COL27A1):c.4780C>T (p.Arg1594Cys)
NM_032888.4(COL27A1):c.4785G>A (p.Gly1595=)
NM_032888.4(COL27A1):c.4791+11G>C
NM_032888.4(COL27A1):c.4791+14C>G
NM_032888.4(COL27A1):c.4791+16G>A rs2131663858
NM_032888.4(COL27A1):c.4791+7G>A rs1416934709
NM_032888.4(COL27A1):c.4791+7G>C rs1416934709
NM_032888.4(COL27A1):c.4791+8G>A
NM_032888.4(COL27A1):c.4792-10C>A
NM_032888.4(COL27A1):c.4792-10C>T rs956818580
NM_032888.4(COL27A1):c.4792-4C>G rs1164984933
NM_032888.4(COL27A1):c.4792-7C>A
NM_032888.4(COL27A1):c.4792-8C>T rs2131664328
NM_032888.4(COL27A1):c.4795T>C (p.Leu1599=) rs1386392461
NM_032888.4(COL27A1):c.4797G>T (p.Leu1599Phe)
NM_032888.4(COL27A1):c.47C>T (p.Ala16Val)
NM_032888.4(COL27A1):c.4800A>G (p.Gln1600=) rs1588896002
NM_032888.4(COL27A1):c.4809+19A>G
NM_032888.4(COL27A1):c.4809+1G>A
NM_032888.4(COL27A1):c.4809+8G>C
NM_032888.4(COL27A1):c.4809+9G>A
NM_032888.4(COL27A1):c.4810-10G>A rs777481360
NM_032888.4(COL27A1):c.4810-13C>G
NM_032888.4(COL27A1):c.4810-15C>T
NM_032888.4(COL27A1):c.4810-22TCT[2] rs748731467
NM_032888.4(COL27A1):c.4813C>T (p.Pro1605Ser)
NM_032888.4(COL27A1):c.4818C>T (p.Pro1606=) rs529138775
NM_032888.4(COL27A1):c.4821C>T (p.Gly1607=)
NM_032888.4(COL27A1):c.4822C>T (p.Pro1608Ser)
NM_032888.4(COL27A1):c.4830G>A (p.Gly1610=)
NM_032888.4(COL27A1):c.4832G>A (p.Arg1611Gln)
NM_032888.4(COL27A1):c.4833G>T (p.Arg1611=) rs2131665657
NM_032888.4(COL27A1):c.483C>T (p.Leu161=) rs148339655
NM_032888.4(COL27A1):c.4840C>A (p.Pro1614Thr)
NM_032888.4(COL27A1):c.4842C>T (p.Pro1614=)
NM_032888.4(COL27A1):c.4844C>T (p.Pro1615Leu)
NM_032888.4(COL27A1):c.4845+13G>C
NM_032888.4(COL27A1):c.4845+15G>A
NM_032888.4(COL27A1):c.4845+17T>C
NM_032888.4(COL27A1):c.4845+20G>A
NM_032888.4(COL27A1):c.4845+20G>T
NM_032888.4(COL27A1):c.4845+7A>G rs2131665815
NM_032888.4(COL27A1):c.4846-14dup
NM_032888.4(COL27A1):c.4846-15A>T
NM_032888.4(COL27A1):c.4846-17G>T
NM_032888.4(COL27A1):c.4846-18C>T
NM_032888.4(COL27A1):c.4846-18_4846-16del
NM_032888.4(COL27A1):c.4846-19C>A
NM_032888.4(COL27A1):c.4846-20C>A
NM_032888.4(COL27A1):c.4846-2A>G rs2131667389
NM_032888.4(COL27A1):c.4846-6T>C rs571326418
NM_032888.4(COL27A1):c.484G>A (p.Glu162Lys) rs748184039
NM_032888.4(COL27A1):c.4854A>G (p.Pro1618=) rs1187684738
NM_032888.4(COL27A1):c.4863T>C (p.Pro1621=) rs2131667503
NM_032888.4(COL27A1):c.4869A>G (p.Gln1623=)
NM_032888.4(COL27A1):c.4872+11_4872+12del
NM_032888.4(COL27A1):c.4872+13C>T
NM_032888.4(COL27A1):c.4872+16_4872+27del
NM_032888.4(COL27A1):c.4872+19C>T
NM_032888.4(COL27A1):c.4872+20T>C
NM_032888.4(COL27A1):c.4873-10C>T
NM_032888.4(COL27A1):c.4873-11T>C
NM_032888.4(COL27A1):c.4873-15C>T
NM_032888.4(COL27A1):c.4873-3C>T
NM_032888.4(COL27A1):c.4873-3del
NM_032888.4(COL27A1):c.4873-8T>G rs2131678113
NM_032888.4(COL27A1):c.4873-8_4873-5dup rs2131678104
NM_032888.4(COL27A1):c.4873C>T (p.Gln1625Ter)
NM_032888.4(COL27A1):c.4880A>G (p.Asp1627Gly)
NM_032888.4(COL27A1):c.4881T>C (p.Asp1627=) rs2131678159
NM_032888.4(COL27A1):c.4891_4909del (p.Ala1631fs)
NM_032888.4(COL27A1):c.489C>A (p.Leu163=)
NM_032888.4(COL27A1):c.4905G>A (p.Thr1635=) rs746766906
NM_032888.4(COL27A1):c.4905G>C (p.Thr1635=) rs746766906
NM_032888.4(COL27A1):c.4905G>T (p.Thr1635=)
NM_032888.4(COL27A1):c.490C>T (p.Arg164Ter) rs2135073208
NM_032888.4(COL27A1):c.4920T>C (p.Ser1640=)
NM_032888.4(COL27A1):c.4922G>C (p.Gly1641Ala)
NM_032888.4(COL27A1):c.4924G>A (p.Ala1642Thr)
NM_032888.4(COL27A1):c.4929C>A (p.Leu1643=)
NM_032888.4(COL27A1):c.4929C>G (p.Leu1643=)
NM_032888.4(COL27A1):c.4932G>A (p.Arg1644=)
NM_032888.4(COL27A1):c.4935A>G (p.Pro1645=)
NM_032888.4(COL27A1):c.4936G>A (p.Glu1646Lys)
NM_032888.4(COL27A1):c.4938+11G>A
NM_032888.4(COL27A1):c.4938+13G>T
NM_032888.4(COL27A1):c.4938+19C>T
NM_032888.4(COL27A1):c.4938+1G>A rs1432130710
NM_032888.4(COL27A1):c.4938+1G>C rs1432130710
NM_032888.4(COL27A1):c.4938+1G>T rs1432130710
NM_032888.4(COL27A1):c.4938+2T>C rs1828901917
NM_032888.4(COL27A1):c.4938+2_4938+15del rs2131678418
NM_032888.4(COL27A1):c.4938+3A>G
NM_032888.4(COL27A1):c.4938+8C>T rs1828902542
NM_032888.4(COL27A1):c.4939-10C>T rs2131686497
NM_032888.4(COL27A1):c.4939-11C>A
NM_032888.4(COL27A1):c.4939-15C>A
NM_032888.4(COL27A1):c.4939-16C>A
NM_032888.4(COL27A1):c.4939-16C>T
NM_032888.4(COL27A1):c.4939-17C>A
NM_032888.4(COL27A1):c.4939-17C>T
NM_032888.4(COL27A1):c.4939-9T>A
NM_032888.4(COL27A1):c.4939-9T>G
NM_032888.4(COL27A1):c.4944C>T (p.Tyr1648=)
NM_032888.4(COL27A1):c.4946G>C (p.Ser1649Thr)
NM_032888.4(COL27A1):c.4958G>A (p.Arg1653Gln)
NM_032888.4(COL27A1):c.4962G>A (p.Leu1654=) rs1277485572
NM_032888.4(COL27A1):c.4965G>C (p.Val1655=)
NM_032888.4(COL27A1):c.4966C>T (p.Leu1656=)
NM_032888.4(COL27A1):c.4968G>C (p.Leu1656=)
NM_032888.4(COL27A1):c.4972C>T (p.Gln1658Ter)
NM_032888.4(COL27A1):c.4974G>A (p.Gln1658=)
NM_032888.4(COL27A1):c.4995C>T (p.Thr1665=) rs2131686950
NM_032888.4(COL27A1):c.4998A>G (p.Leu1666=) rs2131686965
NM_032888.4(COL27A1):c.5010C>T (p.Ser1670=) rs2131687032
NM_032888.4(COL27A1):c.5025C>A (p.Ser1675Arg)
NM_032888.4(COL27A1):c.5031G>A (p.Lys1677=)
NM_032888.4(COL27A1):c.5034G>C (p.Thr1678=) rs150455755
NM_032888.4(COL27A1):c.5034G>T (p.Thr1678=) rs150455755
NM_032888.4(COL27A1):c.5040G>A (p.Leu1680=)
NM_032888.4(COL27A1):c.504C>G (p.Val168=)
NM_032888.4(COL27A1):c.5052G>A (p.Glu1684=) rs1829068371
NM_032888.4(COL27A1):c.5061C>G (p.Ala1687=)
NM_032888.4(COL27A1):c.5061C>T (p.Ala1687=) rs1829069483
NM_032888.4(COL27A1):c.5062C>A (p.Arg1688=)
NM_032888.4(COL27A1):c.5064G>C (p.Arg1688=)
NM_032888.4(COL27A1):c.5070C>T (p.Cys1690=)
NM_032888.4(COL27A1):c.5073G>A (p.Arg1691=) rs778232133
NM_032888.4(COL27A1):c.5073G>T (p.Arg1691Ser)
NM_032888.4(COL27A1):c.5097G>A (p.Lys1699=) rs770006255
NM_032888.4(COL27A1):c.5103G>A (p.Val1701=) rs1441411577
NM_032888.4(COL27A1):c.5107+10C>T rs774471629
NM_032888.4(COL27A1):c.5107+13C>T
NM_032888.4(COL27A1):c.5107+18C>G
NM_032888.4(COL27A1):c.5107+19G>A
NM_032888.4(COL27A1):c.5107+19G>C
NM_032888.4(COL27A1):c.5107+23del
NM_032888.4(COL27A1):c.5108-10C>T rs2131692464
NM_032888.4(COL27A1):c.5108-11G>A
NM_032888.4(COL27A1):c.5108-12C>T
NM_032888.4(COL27A1):c.5108-15C>T
NM_032888.4(COL27A1):c.5108-16C>T
NM_032888.4(COL27A1):c.5108-20C>A
NM_032888.4(COL27A1):c.5124T>C (p.Asp1708=)
NM_032888.4(COL27A1):c.5125C>A (p.Pro1709Thr)
NM_032888.4(COL27A1):c.5129del (p.Asn1710fs)
NM_032888.4(COL27A1):c.513G>T (p.Val171=)
NM_032888.4(COL27A1):c.5148C>T (p.Asp1716=) rs772156182
NM_032888.4(COL27A1):c.5157G>A (p.Glu1719=)
NM_032888.4(COL27A1):c.5160C>T (p.Val1720=) rs747111643
NM_032888.4(COL27A1):c.5166C>T (p.Cys1722=)
NM_032888.4(COL27A1):c.5190G>T (p.Thr1730=) rs565315568
NM_032888.4(COL27A1):c.5199G>A (p.Lys1733=)
NM_032888.4(COL27A1):c.51G>A (p.Ala17=)
NM_032888.4(COL27A1):c.51G>C (p.Ala17=) rs2134975917
NM_032888.4(COL27A1):c.5202C>G (p.Pro1734=)
NM_032888.4(COL27A1):c.5211C>T (p.Ala1737=) rs1829161551
NM_032888.4(COL27A1):c.5214C>T (p.Ser1738=)
NM_032888.4(COL27A1):c.5217+12C>A
NM_032888.4(COL27A1):c.5217+13T>C
NM_032888.4(COL27A1):c.5217+17A>C
NM_032888.4(COL27A1):c.5217+18C>A
NM_032888.4(COL27A1):c.5217+1G>A
NM_032888.4(COL27A1):c.5218-11C>T
NM_032888.4(COL27A1):c.5218-12G>C
NM_032888.4(COL27A1):c.5218-12G>T
NM_032888.4(COL27A1):c.5218-15G>A rs778106434
NM_032888.4(COL27A1):c.5218-16C>T
NM_032888.4(COL27A1):c.5218-18G>A
NM_032888.4(COL27A1):c.5218-24_5218-15del rs529746417
NM_032888.4(COL27A1):c.5218-6C>T rs2131699184
NM_032888.4(COL27A1):c.5218-8C>A rs745749882
NM_032888.4(COL27A1):c.5218-8C>G
NM_032888.4(COL27A1):c.5218-8C>T rs745749882
NM_032888.4(COL27A1):c.521G>C (p.Cys174Ser) rs777003275
NM_032888.4(COL27A1):c.5238G>C (p.Arg1746=) rs2131699350
NM_032888.4(COL27A1):c.5241C>T (p.Val1747=)
NM_032888.4(COL27A1):c.5256G>T (p.Leu1752=)
NM_032888.4(COL27A1):c.5260C>T (p.Leu1754=) rs2131699458
NM_032888.4(COL27A1):c.5262G>T (p.Leu1754=)
NM_032888.4(COL27A1):c.5265A>T (p.Leu1755=) rs756236155
NM_032888.4(COL27A1):c.5271C>G (p.Ser1757=) rs369369527
NM_032888.4(COL27A1):c.5271C>T (p.Ser1757=) rs369369527
NM_032888.4(COL27A1):c.5280C>A (p.Thr1760=)
NM_032888.4(COL27A1):c.5281C>T (p.Gln1761Ter)
NM_032888.4(COL27A1):c.5283G>A (p.Gln1761=)
NM_032888.4(COL27A1):c.5289C>A (p.Ile1763=) rs916291602
NM_032888.4(COL27A1):c.528G>A (p.Gln176=)
NM_032888.4(COL27A1):c.5292C>T (p.Thr1764=)
NM_032888.4(COL27A1):c.5293A>C (p.Ile1765Leu)
NM_032888.4(COL27A1):c.5295C>A (p.Ile1765=) rs2131699738
NM_032888.4(COL27A1):c.5298C>T (p.His1766=)
NM_032888.4(COL27A1):c.5307C>T (p.Asn1769=) rs2131699783
NM_032888.4(COL27A1):c.530G>T (p.Arg177Leu) rs750487305
NM_032888.4(COL27A1):c.5325G>A (p.Glu1775=)
NM_032888.4(COL27A1):c.532C>T (p.Arg178Trp)
NM_032888.4(COL27A1):c.533G>A (p.Arg178Gln)
NM_032888.4(COL27A1):c.5349G>A (p.Lys1783=)
NM_032888.4(COL27A1):c.534G>A (p.Arg178=) rs1357631501
NM_032888.4(COL27A1):c.5355C>A (p.Ala1785=) rs377141342
NM_032888.4(COL27A1):c.5356G>A (p.Val1786Ile)
NM_032888.4(COL27A1):c.5359C>T (p.Arg1787Cys)
NM_032888.4(COL27A1):c.5370C>G (p.Ala1790=) rs1422999693
NM_032888.4(COL27A1):c.5373G>A (p.Trp1791Ter) rs2131700308
NM_032888.4(COL27A1):c.5376T>C (p.Asn1792=)
NM_032888.4(COL27A1):c.537G>A (p.Val179=) rs1338570858
NM_032888.4(COL27A1):c.5397G>C (p.Gly1799=)
NM_032888.4(COL27A1):c.5415G>A (p.Glu1805=) rs1270682536
NM_032888.4(COL27A1):c.5421_5422inv (p.Met1808Val)
NM_032888.4(COL27A1):c.5427T>C (p.Asp1809=)
NM_032888.4(COL27A1):c.5436+10A>G
NM_032888.4(COL27A1):c.5436+16C>A
NM_032888.4(COL27A1):c.5436+17C>G
NM_032888.4(COL27A1):c.5436+17C>T
NM_032888.4(COL27A1):c.5436+19C>T
NM_032888.4(COL27A1):c.5436+20C>G
NM_032888.4(COL27A1):c.5436+20C>T
NM_032888.4(COL27A1):c.5436+9C>G
NM_032888.4(COL27A1):c.5436+9C>T
NM_032888.4(COL27A1):c.5437-10C>A
NM_032888.4(COL27A1):c.5437-20A>C
NM_032888.4(COL27A1):c.5437-20A>G
NM_032888.4(COL27A1):c.5437-7C>T
NM_032888.4(COL27A1):c.5437-9T>C rs2131705016
NM_032888.4(COL27A1):c.5439C>T (p.Val1813=)
NM_032888.4(COL27A1):c.543C>A (p.Val181=) rs1588566349
NM_032888.4(COL27A1):c.543C>T (p.Val181=) rs1588566349
NM_032888.4(COL27A1):c.5442A>G (p.Gln1814=)
NM_032888.4(COL27A1):c.5445T>C (p.Asp1815=)
NM_032888.4(COL27A1):c.544C>T (p.Leu182=)
NM_032888.4(COL27A1):c.5466C>G (p.Leu1822=)
NM_032888.4(COL27A1):c.5475C>T (p.Phe1825=) rs1588912911
NM_032888.4(COL27A1):c.5478G>T (p.Arg1826=)
NM_032888.4(COL27A1):c.547C>T (p.Leu183=) rs140616075
NM_032888.4(COL27A1):c.5481C>A (p.Thr1827=) rs2131705192
NM_032888.4(COL27A1):c.5484A>C (p.Gln1828His)
NM_032888.4(COL27A1):c.5499G>T (p.Leu1833=)
NM_032888.4(COL27A1):c.549G>C (p.Leu183=) rs2135074008
NM_032888.4(COL27A1):c.5517C>A (p.Asp1839Glu)
NM_032888.4(COL27A1):c.5523C>T (p.Leu1841=) rs139634437
NM_032888.4(COL27A1):c.5526T>G (p.Pro1842=) rs2131705418
NM_032888.4(COL27A1):c.5531C>T (p.Ala1844Val)
NM_032888.4(COL27A1):c.5535A>G (p.Ser1845=) rs2131705485
NM_032888.4(COL27A1):c.5539G>T (p.Gly1847Trp) rs1342079378
NM_032888.4(COL27A1):c.5545C>A (p.Gln1849Lys)
NM_032888.4(COL27A1):c.554dup (p.His186fs) rs1849030350
NM_032888.4(COL27A1):c.5552G>A (p.Arg1851His)
NM_032888.4(COL27A1):c.5556G>A (p.Leu1852=)
NM_032888.4(COL27A1):c.5568T>C (p.Pro1856=) rs2131705637
NM_032888.4(COL27A1):c.5582G>A (p.Ter1861=) rs1829387527
NM_032888.4(COL27A1):c.558C>T (p.His186=)
NM_032888.4(COL27A1):c.564C>T (p.Asp188=) rs1188739966
NM_032888.4(COL27A1):c.569C>G (p.Ala190Gly)
NM_032888.4(COL27A1):c.570A>C (p.Ala190=)
NM_032888.4(COL27A1):c.574G>A (p.Asp192Asn)
NM_032888.4(COL27A1):c.576C>T (p.Asp192=) rs2135074231
NM_032888.4(COL27A1):c.579T>C (p.Pro193=) rs978575901
NM_032888.4(COL27A1):c.57C>G (p.Arg19=) rs941086447
NM_032888.4(COL27A1):c.584G>T (p.Gly195Val)
NM_032888.4(COL27A1):c.585C>A (p.Gly195=)
NM_032888.4(COL27A1):c.594C>T (p.Leu198=) rs745604906
NM_032888.4(COL27A1):c.597T>C (p.Phe199=) rs1450519152
NM_032888.4(COL27A1):c.60G>C (p.Gly20=) rs758537611
NM_032888.4(COL27A1):c.611dup (p.His205fs)
NM_032888.4(COL27A1):c.612G>T (p.Pro204=)
NM_032888.4(COL27A1):c.614A>T (p.His205Leu)
NM_032888.4(COL27A1):c.62+12C>T
NM_032888.4(COL27A1):c.62+17G>T
NM_032888.4(COL27A1):c.62+1G>C rs1848097390
NM_032888.4(COL27A1):c.62+1G>T rs1848097390
NM_032888.4(COL27A1):c.62+1del rs756877794
NM_032888.4(COL27A1):c.62+20C>T
NM_032888.4(COL27A1):c.62+5G>C rs2134976265
NM_032888.4(COL27A1):c.62+8C>G
NM_032888.4(COL27A1):c.62+9G>A rs781496001
NM_032888.4(COL27A1):c.624G>A (p.Gln208=)
NM_032888.4(COL27A1):c.63-11C>G
NM_032888.4(COL27A1):c.63-16G>T
NM_032888.4(COL27A1):c.63-18G>T
NM_032888.4(COL27A1):c.63-1G>A rs2135027384
NM_032888.4(COL27A1):c.63-3_77del
NM_032888.4(COL27A1):c.63-4C>T
NM_032888.4(COL27A1):c.63-6C>A
NM_032888.4(COL27A1):c.63-9G>C rs1848584596
NM_032888.4(COL27A1):c.633T>G (p.Gly211=)
NM_032888.4(COL27A1):c.636T>A (p.Ala212=)
NM_032888.4(COL27A1):c.663G>A (p.Val221=)
NM_032888.4(COL27A1):c.663G>C (p.Val221=) rs2135075118
NM_032888.4(COL27A1):c.673G>A (p.Ala225Thr)
NM_032888.4(COL27A1):c.676C>A (p.His226Asn) rs779610682
NM_032888.4(COL27A1):c.693C>T (p.His231=)
NM_032888.4(COL27A1):c.697_707del (p.Arg233fs) rs2135075507
NM_032888.4(COL27A1):c.698G>C (p.Arg233Thr)
NM_032888.4(COL27A1):c.699G>A (p.Arg233=) rs912387390
NM_032888.4(COL27A1):c.705G>A (p.Gln235=) rs2135075621
NM_032888.4(COL27A1):c.723G>C (p.Thr241=) rs574675570
NM_032888.4(COL27A1):c.723G>T (p.Thr241=)
NM_032888.4(COL27A1):c.732C>A (p.Ser244=) rs757163848
NM_032888.4(COL27A1):c.734del (p.Pro245fs)
NM_032888.4(COL27A1):c.735A>T (p.Pro245=)
NM_032888.4(COL27A1):c.750C>T (p.Phe250=) rs1849051191
NM_032888.4(COL27A1):c.759C>T (p.Asp253=)
NM_032888.4(COL27A1):c.761C>G (p.Ser254Cys)
NM_032888.4(COL27A1):c.769C>T (p.Pro257Ser)
NM_032888.4(COL27A1):c.770C>A (p.Pro257His)
NM_032888.4(COL27A1):c.775A>G (p.Thr259Ala)
NM_032888.4(COL27A1):c.777C>A (p.Thr259=) rs895361431
NM_032888.4(COL27A1):c.783G>A (p.Gln261=)
NM_032888.4(COL27A1):c.795C>T (p.Ala265=) rs1429725386
NM_032888.4(COL27A1):c.796C>T (p.Leu266=) rs2135076723
NM_032888.4(COL27A1):c.7G>A (p.Ala3Thr)
NM_032888.4(COL27A1):c.801A>G (p.Leu267=) rs1424081505
NM_032888.4(COL27A1):c.814T>C (p.Leu272=)
NM_032888.4(COL27A1):c.818C>G (p.Thr273Ser) rs2135076978
NM_032888.4(COL27A1):c.828A>G (p.Thr276=) rs2135077075
NM_032888.4(COL27A1):c.830C>T (p.Pro277Leu)
NM_032888.4(COL27A1):c.843A>T (p.Ser281=) rs765917131
NM_032888.4(COL27A1):c.846G>A (p.Leu282=)
NM_032888.4(COL27A1):c.860G>A (p.Gly287Glu)
NM_032888.4(COL27A1):c.870G>A (p.Gly290=) rs2135077472
NM_032888.4(COL27A1):c.873T>C (p.Thr291=) rs1248874423
NM_032888.4(COL27A1):c.883G>A (p.Ala295Thr)
NM_032888.4(COL27A1):c.885C>A (p.Ala295=)
NM_032888.4(COL27A1):c.891C>T (p.Pro297=) rs766440114
NM_032888.4(COL27A1):c.894C>A (p.Thr298=) rs1849062545
NM_032888.4(COL27A1):c.897G>A (p.Lys299=)
NM_032888.4(COL27A1):c.903A>G (p.Gln301=) rs2135078012
NM_032888.4(COL27A1):c.903_916del (p.Gln301fs)
NM_032888.4(COL27A1):c.90C>G (p.Val30=)
NM_032888.4(COL27A1):c.90C>T (p.Val30=) rs569764168
NM_032888.4(COL27A1):c.915C>A (p.Pro305=) rs1197599768
NM_032888.4(COL27A1):c.918A>C (p.Thr306=)
NM_032888.4(COL27A1):c.921C>T (p.Asn307=)
NM_032888.4(COL27A1):c.923C>G (p.Pro308Arg) rs767257782
NM_032888.4(COL27A1):c.924_927dup (p.Gln310fs) rs2135078208
NM_032888.4(COL27A1):c.930G>A (p.Gln310=) rs2135078263
NM_032888.4(COL27A1):c.93G>A (p.Ser31=) rs745344423
NM_032888.4(COL27A1):c.93G>T (p.Ser31=) rs745344423
NM_032888.4(COL27A1):c.944G>A (p.Gly315Glu)
NM_032888.4(COL27A1):c.951A>G (p.Pro317=)
NM_032888.4(COL27A1):c.957A>G (p.Gln319=) rs1849067227
NM_032888.4(COL27A1):c.969A>G (p.Leu323=)
NM_032888.4(COL27A1):c.981G>C (p.Leu327=)
NM_032888.4(COL27A1):c.994G>A (p.Ala332Thr)
NM_032888.4(COL27A1):c.996A>C (p.Ala332=)
NM_032888.4(COL27A1):c.99C>T (p.Ala33=) rs2135027901
NM_032888.4(COL27A1):c.99del (p.Cys34fs)

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