ClinVar Miner

List of variants reported as uncertain significance for Hereditary pancreatitis by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 341
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HGVS dbSNP gnomAD frequency
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00075
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn) rs143014431 0.00034
NM_007272.3(CTRC):c.251T>C (p.Val84Ala) rs200369419 0.00028
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu) rs142560329 0.00022
NM_001379610.1(SPINK1):c.-53C>T rs367798627 0.00019
NM_002769.5(PRSS1):c.453C>T (p.Gly151=) rs147765409 0.00018
NM_003122.5(SPINK1):c.-142T>C rs755968566 0.00016
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564 0.00010
NM_002769.5(PRSS1):c.283C>T (p.Arg95Cys) rs201775810 0.00010
NM_002769.5(PRSS1):c.40+1G>A rs149125789 0.00009
NM_002769.5(PRSS1):c.284G>A (p.Arg95His) rs375820192 0.00008
NM_007272.3(CTRC):c.355C>T (p.Arg119Cys) rs768853400 0.00007
NM_007272.3(CTRC):c.484C>T (p.Arg162Cys) rs764908785 0.00007
NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr) rs373011963 0.00006
NM_002769.5(PRSS1):c.541A>G (p.Ser181Gly) rs376907511 0.00006
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg) rs541223359 0.00006
NM_007272.3(CTRC):c.161C>T (p.Thr54Met) rs559326793 0.00006
NM_007272.3(CTRC):c.39T>C (p.Cys13=) rs747431847 0.00006
NM_002769.5(PRSS1):c.107C>G (p.Pro36Arg) rs769459903 0.00005
NM_002769.5(PRSS1):c.447C>A (p.Ser149Arg) rs372698855 0.00005
NM_002769.5(PRSS1):c.626A>G (p.Gln209Arg) rs576596527 0.00005
NM_007272.3(CTRC):c.52G>A (p.Gly18Arg) rs200576965 0.00005
NM_007272.3(CTRC):c.641G>A (p.Gly214Glu) rs1013133526 0.00005
NM_001379610.1(SPINK1):c.126A>G (p.Ile42Met) rs370266754 0.00004
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg) rs760077990 0.00004
NM_002769.5(PRSS1):c.247G>C (p.Gly83Arg) rs372411481 0.00004
NM_002769.5(PRSS1):c.400G>A (p.Ala134Thr) rs752456117 0.00004
NM_002769.5(PRSS1):c.548T>C (p.Met183Thr) rs762123204 0.00004
NM_002769.5(PRSS1):c.6T>A (p.Asn2Lys) rs140591237 0.00004
NM_007272.3(CTRC):c.139C>T (p.Leu47Phe) rs769324644 0.00004
NM_007272.3(CTRC):c.286G>A (p.Glu96Lys) rs144286923 0.00004
NM_007272.3(CTRC):c.356G>A (p.Arg119His) rs748221308 0.00004
NM_007272.3(CTRC):c.493+3G>A rs772436044 0.00004
NM_007272.3(CTRC):c.767C>G (p.Ser256Cys) rs772573958 0.00004
NM_002769.5(PRSS1):c.256C>T (p.Gln86Ter) rs146398318 0.00003
NM_002769.5(PRSS1):c.31G>A (p.Ala11Thr) rs1276830284 0.00003
NM_002769.5(PRSS1):c.364C>G (p.Arg122Gly) rs111033568 0.00003
NM_002769.5(PRSS1):c.422T>A (p.Ile141Asn) rs748208676 0.00003
NM_002769.5(PRSS1):c.455C>G (p.Ala152Gly) rs770315312 0.00003
NM_002769.5(PRSS1):c.457G>A (p.Asp153Asn) rs61735002 0.00003
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg) rs769482036 0.00003
NM_007272.3(CTRC):c.205G>A (p.Val69Ile) rs760911831 0.00003
NM_007272.3(CTRC):c.356+1G>A rs151102347 0.00003
NM_007272.3(CTRC):c.485G>A (p.Arg162His) rs775404479 0.00003
NM_007272.3(CTRC):c.616G>A (p.Asp206Asn) rs780097120 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe) rs765342413 0.00002
NM_002769.5(PRSS1):c.35C>T (p.Ala12Val) rs772363999 0.00002
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr) rs199422123 0.00002
NM_002769.5(PRSS1):c.443C>G (p.Ala148Gly) rs762545562 0.00002
NM_002769.5(PRSS1):c.454G>A (p.Ala152Thr) rs766731858 0.00002
NM_002769.5(PRSS1):c.605G>C (p.Gly202Ala) rs199531292 0.00002
NM_002769.5(PRSS1):c.702C>A (p.Asn234Lys) rs773353079 0.00002
NM_002769.5(PRSS1):c.73G>A (p.Val25Ile) rs768051473 0.00002
NM_007272.3(CTRC):c.109C>T (p.Arg37Trp) rs770675516 0.00002
NM_007272.3(CTRC):c.230+6C>T rs1331333297 0.00002
NM_007272.3(CTRC):c.247C>G (p.Arg83Gly) rs747679121 0.00002
NM_007272.3(CTRC):c.35C>T (p.Ala12Val) rs1318452999 0.00002
NM_007272.3(CTRC):c.599T>C (p.Met200Thr) rs1004695259 0.00002
NM_007272.3(CTRC):c.607G>A (p.Ala203Thr) rs750408563 0.00002
NM_007272.3(CTRC):c.82G>A (p.Ala28Thr) rs768414501 0.00002
NM_001379610.1(SPINK1):c.109A>C (p.Asn37His) rs761739859 0.00001
NM_001379610.1(SPINK1):c.136G>C (p.Val46Leu) rs772387015 0.00001
NM_001379610.1(SPINK1):c.14G>A (p.Gly5Asp) rs759869911 0.00001
NM_001379610.1(SPINK1):c.175G>A (p.Val59Met) rs781162491 0.00001
NM_001379610.1(SPINK1):c.190A>G (p.Asn64Asp) rs1261616345 0.00001
NM_001379610.1(SPINK1):c.193C>T (p.Arg65Trp) rs536203389 0.00001
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) rs515726208 0.00001
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile) rs576564400 0.00001
NM_001379610.1(SPINK1):c.224A>T (p.Lys75Ile) rs1163281900 0.00001
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val) rs770387107 0.00001
NM_001379610.1(SPINK1):c.82A>G (p.Arg28Gly) rs375368064 0.00001
NM_001379610.1(SPINK1):c.8T>C (p.Val3Ala) rs768306142 0.00001
NM_002769.5(PRSS1):c.112C>G (p.Gln38Glu) rs775259109 0.00001
NM_002769.5(PRSS1):c.163G>C (p.Glu55Gln) rs1365488828 0.00001
NM_002769.5(PRSS1):c.203G>T (p.Arg68Leu) rs757111793 0.00001
NM_002769.5(PRSS1):c.261C>A (p.Phe87Leu) rs767354237 0.00001
NM_002769.5(PRSS1):c.264C>G (p.Ile88Met) rs199836666 0.00001
NM_002769.5(PRSS1):c.304A>G (p.Lys102Glu) rs754618801 0.00001
NM_002769.5(PRSS1):c.38C>T (p.Ala13Val) rs773357729 0.00001
NM_002769.5(PRSS1):c.40+3G>A rs762998940 0.00001
NM_002769.5(PRSS1):c.455-3C>A rs760226452 0.00001
NM_002769.5(PRSS1):c.529G>A (p.Gly177Arg) rs1240508430 0.00001
NM_002769.5(PRSS1):c.653A>T (p.Asp218Val) rs199878511 0.00001
NM_002769.5(PRSS1):c.721A>G (p.Asn241Asp) rs141554682 0.00001
NM_002769.5(PRSS1):c.76G>C (p.Gly26Arg) rs766579839 0.00001
NM_007272.3(CTRC):c.143A>G (p.Gln48Arg) rs536812916 0.00001
NM_007272.3(CTRC):c.154A>G (p.Asn52Asp) rs1199793577 0.00001
NM_007272.3(CTRC):c.202T>A (p.Phe68Ile) rs772513025 0.00001
NM_007272.3(CTRC):c.22G>A (p.Ala8Thr) rs767349844 0.00001
NM_007272.3(CTRC):c.256G>A (p.Val86Met) rs367979183 0.00001
NM_007272.3(CTRC):c.26C>T (p.Ala9Val) rs772818172 0.00001
NM_007272.3(CTRC):c.320T>C (p.Ile107Thr) rs1708151410 0.00001
NM_007272.3(CTRC):c.325G>A (p.Val109Ile) rs372127821 0.00001
NM_007272.3(CTRC):c.331A>C (p.Lys111Gln) rs1460120830 0.00001
NM_007272.3(CTRC):c.40+4A>G rs1222161661 0.00001
NM_007272.3(CTRC):c.40+7G>A rs369827801 0.00001
NM_007272.3(CTRC):c.46A>G (p.Ser16Gly) rs765777463 0.00001
NM_007272.3(CTRC):c.473C>T (p.Thr158Ile) rs1238171999 0.00001
NM_007272.3(CTRC):c.494-1G>C rs766917452 0.00001
NM_007272.3(CTRC):c.538G>A (p.Val180Met) rs780050276 0.00001
NM_007272.3(CTRC):c.569A>G (p.Asp190Gly) rs765613993 0.00001
NM_007272.3(CTRC):c.572G>T (p.Trp191Leu) rs753236329 0.00001
NM_007272.3(CTRC):c.58C>T (p.Pro20Ser) rs757630885 0.00001
NM_007272.3(CTRC):c.618T>A (p.Asp206Glu) rs749204330 0.00001
NM_007272.3(CTRC):c.631G>A (p.Ala211Thr) rs747965069 0.00001
NM_007272.3(CTRC):c.679G>A (p.Gly227Ser) rs567745213 0.00001
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu) rs533967597 0.00001
NM_007272.3(CTRC):c.719G>A (p.Arg240Gln) rs760962602 0.00001
NM_007272.3(CTRC):c.71C>T (p.Pro24Leu) rs1241494944 0.00001
NM_007272.3(CTRC):c.721C>T (p.Arg241Trp) rs771229796 0.00001
NM_007272.3(CTRC):c.769G>A (p.Ala257Thr) rs200406696 0.00001
NM_007272.3(CTRC):c.86G>A (p.Arg29Gln) rs772024986 0.00001
GRCh38/hg38 1p36.21(chr1:15438455-15438514)
NC_000001.10:g.(?_15764902)_(15773084_?)dup
NC_000001.10:g.(?_15764951)_(15773094_?)dup
NC_000001.11:g.15445598_15445607del
NC_000005.9:g.(?_147204204)_(147211355_?)dup
NC_000005.9:g.(?_147204224)_(147211355_?)dup
NC_000007.13:g.(?_142456998)_(142457385_?)del
NC_000007.13:g.(?_142457336)_(142460871_?)del
NC_000007.13:g.(?_142458396)_(142460871_?)del
NC_000007.13:g.(?_142458396)_(142460871_?)dup
NC_000007.13:g.(?_142459605)_(142460438_?)dup
NC_000007.13:g.(?_142459605)_(142460871_?)del
NC_000007.13:g.(?_142459625)_(142460927_?)dup
NC_000007.13:g.(?_142460272)_(142460871_?)del
NC_000007.13:g.(?_142460272)_(142460871_?)dup
NC_000007.14:g.(?_142749281)_(142753040_?)del
NC_000007.14:g.142749147T>G
NM_001379610.1(SPINK1):c.127T>C (p.Tyr43His) rs2127133850
NM_001379610.1(SPINK1):c.129_131dup (p.Asp44dup) rs878854607
NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp) rs1379675813
NM_001379610.1(SPINK1):c.168T>A (p.Asn56Lys) rs1756441667
NM_001379610.1(SPINK1):c.16A>T (p.Ile6Phe)
NM_001379610.1(SPINK1):c.170A>G (p.Glu57Gly)
NM_001379610.1(SPINK1):c.182del (p.Cys61fs)
NM_001379610.1(SPINK1):c.215T>C (p.Leu72Pro) rs749558779
NM_001379610.1(SPINK1):c.29G>A (p.Ser10Asn)
NM_001379610.1(SPINK1):c.55+5G>A rs879076423
NM_001379610.1(SPINK1):c.56G>C (p.Gly19Ala)
NM_001379610.1(SPINK1):c.71A>C (p.Asp24Ala)
NM_001379610.1(SPINK1):c.87+6G>C rs1554089890
NM_002769.5(PRSS1):c.103G>C (p.Val35Leu) rs1286351441
NM_002769.5(PRSS1):c.103G>T (p.Val35Phe) rs1286351441
NM_002769.5(PRSS1):c.112C>A (p.Gln38Lys)
NM_002769.5(PRSS1):c.119C>A (p.Ser40Tyr) rs768277012
NM_002769.5(PRSS1):c.119C>G (p.Ser40Cys)
NM_002769.5(PRSS1):c.119C>T (p.Ser40Phe)
NM_002769.5(PRSS1):c.136_138del (p.His46del)
NM_002769.5(PRSS1):c.163G>A (p.Glu55Lys) rs1365488828
NM_002769.5(PRSS1):c.16A>T (p.Ile6Phe) rs1585972378
NM_002769.5(PRSS1):c.172G>A (p.Val58Met)
NM_002769.5(PRSS1):c.178T>C (p.Ser60Pro)
NM_002769.5(PRSS1):c.185G>T (p.Gly62Val)
NM_002769.5(PRSS1):c.186C>T (p.Gly62=)
NM_002769.5(PRSS1):c.190T>G (p.Cys64Gly) rs1798627075
NM_002769.5(PRSS1):c.196A>T (p.Lys66Ter)
NM_002769.5(PRSS1):c.197A>G (p.Lys66Arg)
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.200+1G>C
NM_002769.5(PRSS1):c.200+6T>C rs763073587
NM_002769.5(PRSS1):c.201-1G>A rs2116976495
NM_002769.5(PRSS1):c.201-8C>A
NM_002769.5(PRSS1):c.202C>A (p.Arg68Ser) rs145867820
NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys) rs145867820
NM_002769.5(PRSS1):c.203G>A (p.Arg68His) rs757111793
NM_002769.5(PRSS1):c.205A>G (p.Ile69Val)
NM_002769.5(PRSS1):c.207C>G (p.Ile69Met) rs1431688642
NM_002769.5(PRSS1):c.238G>A (p.Val80Ile)
NM_002769.5(PRSS1):c.239T>G (p.Val80Gly) rs1798760073
NM_002769.5(PRSS1):c.23C>T (p.Thr8Ile)
NM_002769.5(PRSS1):c.248G>A (p.Gly83Glu)
NM_002769.5(PRSS1):c.256C>A (p.Gln86Lys)
NM_002769.5(PRSS1):c.257A>C (p.Gln86Pro)
NM_002769.5(PRSS1):c.266A>T (p.Asn89Ile) rs1446407497
NM_002769.5(PRSS1):c.269C>T (p.Ala90Val) rs984312649
NM_002769.5(PRSS1):c.276G>C (p.Lys92Asn)
NM_002769.5(PRSS1):c.283C>A (p.Arg95Ser)
NM_002769.5(PRSS1):c.292_305delinsAAATACAACAGCCG (p.Gln98_Lys102delinsLysTyrAsnSerArg) rs1563261113
NM_002769.5(PRSS1):c.294A>T (p.Gln98His) rs1563261128
NM_002769.5(PRSS1):c.295T>C (p.Tyr99His) rs1798766944
NM_002769.5(PRSS1):c.297C>A (p.Tyr99Ter) rs373659879
NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)
NM_002769.5(PRSS1):c.298G>C (p.Asp100His) rs199507985
NM_002769.5(PRSS1):c.298G>T (p.Asp100Tyr)
NM_002769.5(PRSS1):c.2T>G (p.Met1Arg)
NM_002769.5(PRSS1):c.338T>A (p.Leu113His)
NM_002769.5(PRSS1):c.347G>A (p.Arg116His) rs199769221
NM_002769.5(PRSS1):c.350C>G (p.Ala117Gly)
NM_002769.5(PRSS1):c.350C>T (p.Ala117Val) rs1798772289
NM_002769.5(PRSS1):c.362C>T (p.Ala121Val) rs1798773882
NM_002769.5(PRSS1):c.365G>C (p.Arg122Pro) rs111033565
NM_002769.5(PRSS1):c.367G>A (p.Val123Met) rs144403091
NM_002769.5(PRSS1):c.367G>C (p.Val123Leu)
NM_002769.5(PRSS1):c.367G>T (p.Val123Leu) rs144403091
NM_002769.5(PRSS1):c.370T>C (p.Ser124Pro) rs1798775039
NM_002769.5(PRSS1):c.382_383del (p.Leu128fs)
NM_002769.5(PRSS1):c.386C>T (p.Pro129Leu) rs768673799
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile) rs193922655
NM_002769.5(PRSS1):c.391G>A (p.Ala131Thr) rs141011596
NM_002769.5(PRSS1):c.395C>A (p.Pro132His) rs759452330
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg) rs193922656
NM_002769.5(PRSS1):c.40+3_40+6del rs897784116
NM_002769.5(PRSS1):c.402_403inv (p.Thr135Ala)
NM_002769.5(PRSS1):c.406G>A (p.Gly136Ser)
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052
NM_002769.5(PRSS1):c.40C>T (p.Leu14Phe) rs747228052
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser) rs397507440
NM_002769.5(PRSS1):c.440C>A (p.Thr147Asn)
NM_002769.5(PRSS1):c.452G>T (p.Gly151Val) rs1563261623
NM_002769.5(PRSS1):c.460T>C (p.Tyr154His)
NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu)
NM_002769.5(PRSS1):c.469G>A (p.Glu157Lys) rs200890507
NM_002769.5(PRSS1):c.469G>C (p.Glu157Gln) rs200890507
NM_002769.5(PRSS1):c.476A>G (p.Gln159Arg)
NM_002769.5(PRSS1):c.479G>A (p.Cys160Tyr) rs778796800
NM_002769.5(PRSS1):c.484G>A (p.Asp162Asn)
NM_002769.5(PRSS1):c.486T>A (p.Asp162Glu) rs6666
NM_002769.5(PRSS1):c.486T>G (p.Asp162Glu) rs6666
NM_002769.5(PRSS1):c.486_487inv (p.Ala163Thr)
NM_002769.5(PRSS1):c.488C>T (p.Ala163Val)
NM_002769.5(PRSS1):c.491del (p.Pro164fs) rs766199324
NM_002769.5(PRSS1):c.49C>G (p.Pro17Ala) rs770782578
NM_002769.5(PRSS1):c.4A>C (p.Asn2His)
NM_002769.5(PRSS1):c.500G>C (p.Ser167Thr) rs1232891794
NM_002769.5(PRSS1):c.502C>A (p.Gln168Lys)
NM_002769.5(PRSS1):c.50C>G (p.Pro17Arg)
NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu) rs776401461
NM_002769.5(PRSS1):c.523T>A (p.Tyr175Asn) rs756821075
NM_002769.5(PRSS1):c.523T>C (p.Tyr175His)
NM_002769.5(PRSS1):c.539C>G (p.Thr180Ser)
NM_002769.5(PRSS1):c.54del (p.Phe18fs) rs779352917
NM_002769.5(PRSS1):c.551T>C (p.Phe184Ser)
NM_002769.5(PRSS1):c.564C>G (p.Phe188Leu) rs1250731677
NM_002769.5(PRSS1):c.58G>A (p.Asp20Asn) rs774895653
NM_002769.5(PRSS1):c.601G>C (p.Gly201Arg)
NM_002769.5(PRSS1):c.610G>A (p.Val204Met) rs1563263032
NM_002769.5(PRSS1):c.619A>C (p.Asn207His)
NM_002769.5(PRSS1):c.620A>G (p.Asn207Ser)
NM_002769.5(PRSS1):c.649G>A (p.Gly217Ser)
NM_002769.5(PRSS1):c.64G>A (p.Asp22Asn) rs1563258794
NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr) rs1554499629
NM_002769.5(PRSS1):c.652G>A (p.Asp218Asn)
NM_002769.5(PRSS1):c.653_655dup (p.Asp218_Gly219insAsp)
NM_002769.5(PRSS1):c.669G>C (p.Lys223Asn) rs1439609895
NM_002769.5(PRSS1):c.66C>G (p.Asp22Glu) rs1585978624
NM_002769.5(PRSS1):c.672C>G (p.Asn224Lys) rs1184689147
NM_002769.5(PRSS1):c.721A>T (p.Asn241Tyr) rs141554682
NM_002769.5(PRSS1):c.728T>C (p.Ile243Thr) rs1554499664
NM_002769.5(PRSS1):c.731C>T (p.Ala244Val)
NM_002769.5(PRSS1):c.734C>T (p.Ala245Val) rs1798882939
NM_002769.5(PRSS1):c.73G>C (p.Val25Leu)
NM_002769.5(PRSS1):c.740G>A (p.Ser247Asn) rs1479014593
NM_002769.5(PRSS1):c.80G>A (p.Gly27Asp) rs1798618982
NM_002769.5(PRSS1):c.86A>G (p.Asn29Ser)
NM_002769.5(PRSS1):c.87C>G (p.Asn29Lys) rs747010881
NM_002769.5(PRSS1):c.88T>A (p.Cys30Ser)
NM_002769.5(PRSS1):c.91G>A (p.Glu31Lys) rs700323
NM_002769.5(PRSS1):c.91GAG[1] (p.Glu32del) rs1317719683
NM_002769.5(PRSS1):c.96G>C (p.Glu32Asp) rs1253944625
NM_007272.3(CTRC):c.106G>T (p.Ala36Ser)
NM_007272.3(CTRC):c.130del (p.Gln44fs) rs1344551908
NM_007272.3(CTRC):c.145T>C (p.Tyr49His) rs78247007
NM_007272.3(CTRC):c.173C>T (p.Thr58Met)
NM_007272.3(CTRC):c.194C>T (p.Ala65Val) rs2103289502
NM_007272.3(CTRC):c.1A>G (p.Met1Val)
NM_007272.3(CTRC):c.215C>T (p.Ala72Val)
NM_007272.3(CTRC):c.217G>T (p.Ala73Ser) rs515726209
NM_007272.3(CTRC):c.220C>T (p.His74Tyr) rs1557508393
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.238C>T (p.Arg80Trp) rs779643710
NM_007272.3(CTRC):c.239G>A (p.Arg80Gln)
NM_007272.3(CTRC):c.247C>T (p.Arg83Cys) rs747679121
NM_007272.3(CTRC):c.248G>A (p.Arg83His) rs781768384
NM_007272.3(CTRC):c.248G>T (p.Arg83Leu) rs781768384
NM_007272.3(CTRC):c.271C>A (p.Leu91Met) rs1407562830
NM_007272.3(CTRC):c.272_273dup (p.Glu92fs)
NM_007272.3(CTRC):c.295T>A (p.Ser99Thr)
NM_007272.3(CTRC):c.308del (p.Gly103fs) rs773119534
NM_007272.3(CTRC):c.328del (p.His110fs)
NM_007272.3(CTRC):c.347T>C (p.Leu116Pro)
NM_007272.3(CTRC):c.355C>G (p.Arg119Gly)
NM_007272.3(CTRC):c.362A>G (p.Asp121Gly)
NM_007272.3(CTRC):c.365T>C (p.Ile122Thr)
NM_007272.3(CTRC):c.372C>T (p.Leu124=)
NM_007272.3(CTRC):c.379C>T (p.Leu127Phe)
NM_007272.3(CTRC):c.403G>A (p.Asp135Asn)
NM_007272.3(CTRC):c.405C>G (p.Asp135Glu)
NM_007272.3(CTRC):c.407C>T (p.Thr136Ile) rs1302946061
NM_007272.3(CTRC):c.409A>C (p.Ile137Leu) rs2103291436
NM_007272.3(CTRC):c.437del (p.Asp146fs)
NM_007272.3(CTRC):c.445C>T (p.Leu149Phe)
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
NM_007272.3(CTRC):c.490T>C (p.Trp164Arg)
NM_007272.3(CTRC):c.490_491del (p.Trp164fs) rs2103291536
NM_007272.3(CTRC):c.494-1G>A
NM_007272.3(CTRC):c.494-2A>G rs1708187577
NM_007272.3(CTRC):c.496A>C (p.Asn166His)
NM_007272.3(CTRC):c.497A>G (p.Asn166Ser)
NM_007272.3(CTRC):c.499G>A (p.Gly167Ser) rs141205711
NM_007272.3(CTRC):c.522G>C (p.Gln174His) rs2103292282
NM_007272.3(CTRC):c.527G>A (p.Gly176Asp)
NM_007272.3(CTRC):c.554C>T (p.Thr185Met)
NM_007272.3(CTRC):c.560C>G (p.Ser187Cys) rs1355039968
NM_007272.3(CTRC):c.583A>G (p.Arg195Gly) rs1708189840
NM_007272.3(CTRC):c.595A>G (p.Thr199Ala)
NM_007272.3(CTRC):c.598A>G (p.Met200Val)
NM_007272.3(CTRC):c.5T>G (p.Leu2Trp)
NM_007272.3(CTRC):c.614G>A (p.Gly205Asp)
NM_007272.3(CTRC):c.622G>A (p.Val208Ile)
NM_007272.3(CTRC):c.625A>G (p.Ile209Val)
NM_007272.3(CTRC):c.628T>C (p.Ser210Pro) rs1570785775
NM_007272.3(CTRC):c.635G>A (p.Cys212Tyr)
NM_007272.3(CTRC):c.643G>A (p.Asp215Asn) rs1708203951
NM_007272.3(CTRC):c.645C>A (p.Asp215Glu)
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_007272.3(CTRC):c.656C>T (p.Pro219Leu)
NM_007272.3(CTRC):c.664T>C (p.Cys222Arg) rs1570786538
NM_007272.3(CTRC):c.669G>C (p.Gln223His) rs752651686
NM_007272.3(CTRC):c.718C>T (p.Arg240Trp)
NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)
NM_007272.3(CTRC):c.725G>A (p.Gly242Asp)
NM_007272.3(CTRC):c.753_754insAACACCCGCAAGAAGCCGGTACTC (p.Val251_Tyr252insAsnThrArgLysLysProValLeu)
NM_007272.3(CTRC):c.758C>T (p.Thr253Ile) rs780783336
NM_007272.3(CTRC):c.761G>A (p.Arg254Gln) rs755811899
NM_007272.3(CTRC):c.761G>C (p.Arg254Pro) rs755811899
NM_007272.3(CTRC):c.763G>A (p.Val255Met)
NM_007272.3(CTRC):c.763G>C (p.Val255Leu)
NM_007272.3(CTRC):c.778G>T (p.Asp260Tyr) rs540753875
NM_007272.3(CTRC):c.783G>A (p.Trp261Ter)
NM_007272.3(CTRC):c.788A>C (p.Asn263Thr)
NM_007272.3(CTRC):c.791A>G (p.Glu264Gly)
NM_007272.3(CTRC):c.793-18T>A rs1708224385
NM_007272.3(CTRC):c.797T>G (p.Met266Arg) rs1708224626
NM_007272.3(CTRC):c.805T>C (p.Ter269Arg) rs1570787652
NM_007272.3(CTRC):c.86G>C (p.Arg29Pro)
NM_007272.3(CTRC):c.95G>A (p.Gly32Glu)
Single allele

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