ClinVar Miner

List of variants studied for Hereditary pancreatitis by Invitae

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ClinVar version:
Total variants: 634
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.142749281A>C rs4726576 0.56847
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04434
NM_001379610.1(SPINK1):c.-41G>A rs79438751 0.03918
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_007272.3(CTRC):c.*86A>G rs760937 0.02983
NM_007272.3(CTRC):c.514A>G (p.Lys172Glu) rs34949635 0.02786
NM_007272.3(CTRC):c.*83T>C rs75456156 0.02717
NM_007272.3(CTRC):c.285C>T (p.Asp95=) rs41307798 0.02352
NM_001379610.1(SPINK1):c.194+184T>A rs114094661 0.01063
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_007272.3(CTRC):c.156C>T (p.Asn52=) rs77373944 0.00830
NM_001379610.1(SPINK1):c.231G>A (p.Gly77=) rs34809998 0.00827
NM_007272.3(CTRC):c.690G>A (p.Glu230=) rs75971387 0.00820
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_002769.5(PRSS1):c.592-79G>A rs531271210 0.00775
NM_001379610.1(SPINK1):c.56-37T>C rs17107318 0.00736
NM_002769.5(PRSS1):c.279C>T (p.Ile93=) rs139664510 0.00489
NM_002769.5(PRSS1):c.567T>C (p.Leu189=) rs377124851 0.00444
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00133
NM_002769.5(PRSS1):c.592-11C>T rs183791770 0.00131
NM_002769.5(PRSS1):c.592-8C>T rs200381474 0.00131
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202 0.00097
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00075
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_002769.5(PRSS1):c.40+10A>G rs199613498 0.00066
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_001379610.1(SPINK1):c.-22C>T rs190219062 0.00051
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00048
NM_007272.3(CTRC):c.231-14C>T rs374364850 0.00046
NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn) rs143014431 0.00034
NM_002769.5(PRSS1):c.121C>T (p.Leu41=) rs369646357 0.00034
NM_002769.5(PRSS1):c.417C>T (p.Cys139=) rs141847266 0.00032
NM_007272.3(CTRC):c.110G>A (p.Arg37Gln) rs145868278 0.00032
NM_007272.3(CTRC):c.231-15C>G rs1298564824 0.00029
NM_007272.3(CTRC):c.251T>C (p.Val84Ala) rs200369419 0.00028
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu) rs142560329 0.00022
NM_007272.3(CTRC):c.540G>T (p.Val180=) rs371479067 0.00021
NM_002769.5(PRSS1):c.621T>C (p.Asn207=) rs146995038 0.00020
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_001379610.1(SPINK1):c.-53C>T rs367798627 0.00019
NM_007272.3(CTRC):c.216C>T (p.Ala72=) rs140059353 0.00019
NM_002769.5(PRSS1):c.453C>T (p.Gly151=) rs147765409 0.00018
NM_002769.5(PRSS1):c.40+13C>T rs368872847 0.00016
NM_003122.5(SPINK1):c.-142T>C rs755968566 0.00016
NM_007272.3(CTRC):c.27G>A (p.Ala9=) rs374821228 0.00016
NM_002769.5(PRSS1):c.642C>A (p.Val214=) rs141697925 0.00015
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415 0.00012
NM_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209 0.00012
NM_001379610.1(SPINK1):c.192T>C (p.Asn64=) rs765307896 0.00011
NM_002769.5(PRSS1):c.243G>C (p.Leu81=) rs142476093 0.00011
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.47C>T (p.Ala16Val) rs202003805 0.00009
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594 0.00009
NM_007272.3(CTRC):c.792+12C>A rs371799801 0.00009
NM_002769.5(PRSS1):c.284G>A (p.Arg95His) rs375820192 0.00008
NM_007272.3(CTRC):c.40+10G>A rs564455614 0.00008
NM_007272.3(CTRC):c.355C>T (p.Arg119Cys) rs768853400 0.00007
NM_007272.3(CTRC):c.356+17C>G rs376786664 0.00007
NM_007272.3(CTRC):c.484C>T (p.Arg162Cys) rs764908785 0.00007
NM_007272.3(CTRC):c.531G>A (p.Leu177=) rs751747891 0.00007
NM_001379610.1(SPINK1):c.110A>G (p.Asn37Ser) rs200142833 0.00006
NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr) rs373011963 0.00006
NM_002769.5(PRSS1):c.132C>G (p.Gly44=) rs761068371 0.00006
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00006
NM_002769.5(PRSS1):c.541A>G (p.Ser181Gly) rs376907511 0.00006
NM_002769.5(PRSS1):c.591+8G>C rs371601976 0.00006
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg) rs541223359 0.00006
NM_002769.5(PRSS1):c.75T>C (p.Val25=) rs1249340827 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_007272.3(CTRC):c.41-5C>A rs781284605 0.00006
NM_007272.3(CTRC):c.678C>T (p.Asn226=) rs777608312 0.00006
NM_002769.5(PRSS1):c.107C>G (p.Pro36Arg) rs769459903 0.00005
NM_002769.5(PRSS1):c.366C>T (p.Arg122=) rs201487096 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.111T>C (p.Asn37=) rs769216699 0.00004
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.291C>G (p.Pro97=) rs200763933 0.00004
NM_002769.5(PRSS1):c.400G>A (p.Ala134Thr) rs752456117 0.00004
NM_002769.5(PRSS1):c.456C>T (p.Ala152=) rs777261723 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.549C>T (p.His183=) rs554399153 0.00004
NM_007272.3(CTRC):c.640-13C>T rs368477746 0.00004
NM_007272.3(CTRC):c.767C>G (p.Ser256Cys) rs772573958 0.00004
NM_007272.3(CTRC):c.81C>T (p.Ser27=) rs749455108 0.00004
NM_001379610.1(SPINK1):c.56-15C>T rs1172632130 0.00003
NM_002769.5(PRSS1):c.200+10G>T rs200217253 0.00003
NM_002769.5(PRSS1):c.200+18G>A rs778658500 0.00003
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_002769.5(PRSS1):c.615C>T (p.Val205=) rs771252966 0.00003
NM_007272.3(CTRC):c.174G>A (p.Thr58=) rs746721892 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.356+7G>C rs773334021 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_007272.3(CTRC):c.69G>A (p.Pro23=) rs756394210 0.00003
NM_007272.3(CTRC):c.84C>T (p.Ala28=) rs779009847 0.00003
NM_001379610.1(SPINK1):c.27del (p.Ser10fs) rs193922659 0.00002
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe) rs765342413 0.00002
NM_002769.5(PRSS1):c.240C>T (p.Val80=) rs772622287 0.00002
NM_002769.5(PRSS1):c.297C>T (p.Tyr99=) rs373659879 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.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_002769.5(PRSS1):c.443C>G (p.Ala148Gly) rs762545562 0.00002
NM_002769.5(PRSS1):c.454+19C>A rs1414385892 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.645C>T (p.Ser215=) rs764659707 0.00002
NM_002769.5(PRSS1):c.681A>G (p.Gly227=) rs780015944 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.133-19C>G rs777418401 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.493+10G>A rs766857870 0.00002
NM_007272.3(CTRC):c.493+13C>G rs754270976 0.00002
NM_007272.3(CTRC):c.494-13A>G rs762842599 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.768C>T (p.Ser256=) rs778166573 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.177G>A (p.Val59=) rs750670272 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.194+15G>C rs371154048 0.00001
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) rs515726208 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 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.55+12A>G rs779623718 0.00001
NM_001379610.1(SPINK1):c.72C>T (p.Asp24=) rs1422602705 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.138C>T (p.His46=) rs929867235 0.00001
NM_002769.5(PRSS1):c.163G>C (p.Glu55Gln) rs1365488828 0.00001
NM_002769.5(PRSS1):c.200+8T>C rs886038518 0.00001
NM_002769.5(PRSS1):c.200+9G>A rs1390484900 0.00001
NM_002769.5(PRSS1):c.203G>T (p.Arg68Leu) rs757111793 0.00001
NM_002769.5(PRSS1):c.234C>T (p.Ile78=) rs200801370 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.342C>T (p.Ser114=) rs776924834 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002769.5(PRSS1):c.375C>A (p.Thr125=) rs1798775403 0.00001
NM_002769.5(PRSS1):c.384G>A (p.Leu128=) rs549140095 0.00001
NM_002769.5(PRSS1):c.38C>T (p.Ala13Val) rs773357729 0.00001
NM_002769.5(PRSS1):c.40+18C>A rs753283798 0.00001
NM_002769.5(PRSS1):c.40+3G>A rs762998940 0.00001
NM_002769.5(PRSS1):c.41-9C>G rs1268009079 0.00001
NM_002769.5(PRSS1):c.454+7G>A rs755175379 0.00001
NM_002769.5(PRSS1):c.455-3C>A rs760226452 0.00001
NM_002769.5(PRSS1):c.462C>T (p.Tyr154=) rs763292560 0.00001
NM_002769.5(PRSS1):c.529G>A (p.Gly177Arg) rs1240508430 0.00001
NM_002769.5(PRSS1):c.561C>T (p.Gly187=) rs1804561 0.00001
NM_002769.5(PRSS1):c.570G>A (p.Glu190=) rs766441257 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_002769.5(PRSS1):c.81C>T (p.Gly27=) rs1403836546 0.00001
NM_002769.5(PRSS1):c.93G>A (p.Glu31=) rs745623963 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.15T>C (p.Thr5=) rs1060504817 0.00001
NM_007272.3(CTRC):c.202T>A (p.Phe68Ile) rs772513025 0.00001
NM_007272.3(CTRC):c.210C>A (p.Leu70=) rs766739002 0.00001
NM_007272.3(CTRC):c.22G>A (p.Ala8Thr) rs767349844 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 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.352T>C (p.Leu118=) rs557582431 0.00001
NM_007272.3(CTRC):c.369C>T (p.Ala123=) rs749606141 0.00001
NM_007272.3(CTRC):c.40+12G>C rs781396039 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.41-6C>T rs372788092 0.00001
NM_007272.3(CTRC):c.462C>T (p.Pro154=) rs776457510 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.474C>T (p.Thr158=) rs759334187 0.00001
NM_007272.3(CTRC):c.493+9C>T rs199736095 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.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_007272.3(CTRC):c.606C>T (p.Cys202=) rs543348635 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.777C>T (p.Ile259=) rs947267758 0.00001
NM_007272.3(CTRC):c.789C>T (p.Asn263=) rs762952174 0.00001
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter) rs747905422 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_000001.10:g.(?_15764955)_(15773090_?)del
NC_000001.10:g.(?_15764961)_(16063358_?)del
NC_000001.11:g.15445598_15445607del
NC_000005.10:g.(?_147824641)_(147831792_?)del
NC_000005.10:g.(?_147824655)_(147831583_?)del
NC_000005.10:g.(?_147824661)_(147831792_?)del
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.(?_142457132)_(142457395_?)dup
NC_000007.13:g.(?_142457132)_(142460438_?)dup
NC_000007.13:g.(?_142457132)_(142460891_?)dup
NC_000007.13:g.(?_142457319)_(142460927_?)dup
NC_000007.13:g.(?_142457330)_(142460424_?)dup
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)_(142460891_?)dup
NC_000007.13:g.(?_142459615)_(142460871_?)dup
NC_000007.13:g.(?_142459615)_(142460881_?)dup
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.(?_142749147)_(142753020_?)dup
NC_000007.14:g.(?_142749281)_(142753040_?)del
NC_000007.14:g.(?_142749475)_(142753030_?)dup
NC_000007.14:g.142749147T>G
NM_001379610.1(SPINK1):c.114A>G (p.Gly38=) rs1561605325
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.162T>C (p.Tyr54=)
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.186T>C (p.Phe62=)
NM_001379610.1(SPINK1):c.194+19T>G
NM_001379610.1(SPINK1):c.195-15dup
NM_001379610.1(SPINK1):c.195-70_195-67dup rs554919880
NM_001379610.1(SPINK1):c.204G>A (p.Gln68=)
NM_001379610.1(SPINK1):c.210T>C (p.Ser70=)
NM_001379610.1(SPINK1):c.215T>C (p.Leu72Pro) rs749558779
NM_001379610.1(SPINK1):c.216C>T (p.Leu72=)
NM_001379610.1(SPINK1):c.29G>A (p.Ser10Asn)
NM_001379610.1(SPINK1):c.55+11C>A
NM_001379610.1(SPINK1):c.55+5G>A rs879076423
NM_001379610.1(SPINK1):c.56-19A>G
NM_001379610.1(SPINK1):c.56G>C (p.Gly19Ala)
NM_001379610.1(SPINK1):c.71A>C (p.Asp24Ala)
NM_001379610.1(SPINK1):c.75C>G (p.Ser25=)
NM_001379610.1(SPINK1):c.87+10T>C rs955053963
NM_001379610.1(SPINK1):c.87+18A>G
NM_001379610.1(SPINK1):c.87+6G>C rs1554089890
NM_001379610.1(SPINK1):c.87+7A>G rs1756473313
NM_001379610.1(SPINK1):c.87+7A>T rs1756473313
NM_001379610.1(SPINK1):c.88-10C>T
NM_001379610.1(SPINK1):c.88-20C>A
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
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.116T>C (p.Val39Ala) rs397507439
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.146G>T (p.Gly49Val) rs138464021
NM_002769.5(PRSS1):c.153C>T (p.Ser51=) rs1554498506
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.162C>T (p.Asn54=) rs148440491
NM_002769.5(PRSS1):c.163G>A (p.Glu55Lys) rs1365488828
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter) rs147366981
NM_002769.5(PRSS1):c.16A>T (p.Ile6Phe) rs1585972378
NM_002769.5(PRSS1):c.172G>A (p.Val58Met)
NM_002769.5(PRSS1):c.177A>G (p.Val59=)
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.195C>T (p.Tyr65=) rs2116960834
NM_002769.5(PRSS1):c.196A>T (p.Lys66Ter)
NM_002769.5(PRSS1):c.197A>G (p.Lys66Arg)
NM_002769.5(PRSS1):c.200+17C>T rs200688125
NM_002769.5(PRSS1):c.200+17_200+18delinsGA rs2116961269
NM_002769.5(PRSS1):c.200+17del
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.200+1G>C
NM_002769.5(PRSS1):c.200+20C>T rs1585979340
NM_002769.5(PRSS1):c.200+6T>C rs763073587
NM_002769.5(PRSS1):c.200+7G>A rs374455072
NM_002769.5(PRSS1):c.201-12C>T
NM_002769.5(PRSS1):c.201-1G>A rs2116976495
NM_002769.5(PRSS1):c.201-8C>A
NM_002769.5(PRSS1):c.201-8C>T rs1397404221
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.252T>C (p.Asn84=)
NM_002769.5(PRSS1):c.255G>A (p.Glu85=) rs376671702
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.267T>C (p.Asn89=) rs779618969
NM_002769.5(PRSS1):c.269C>T (p.Ala90Val) rs984312649
NM_002769.5(PRSS1):c.270A>G (p.Ala90=) rs371037592
NM_002769.5(PRSS1):c.276G>C (p.Lys92Asn)
NM_002769.5(PRSS1):c.283C>A (p.Arg95Ser)
NM_002769.5(PRSS1):c.285C>A (p.Arg95=)
NM_002769.5(PRSS1):c.285C>T (p.Arg95=)
NM_002769.5(PRSS1):c.288C>T (p.His96=) rs1209409723
NM_002769.5(PRSS1):c.291C>T (p.Pro97=)
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.300C>T (p.Asp100=) rs753600288
NM_002769.5(PRSS1):c.338T>A (p.Leu113His)
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
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.360C>T (p.Asn120=) rs606231348
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.372C>G (p.Ser124=)
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+13C>A
NM_002769.5(PRSS1):c.40+15C>G
NM_002769.5(PRSS1):c.40+15C>T rs760370254
NM_002769.5(PRSS1):c.40+16T>C rs2116945673
NM_002769.5(PRSS1):c.40+3_40+6del rs897784116
NM_002769.5(PRSS1):c.40+40del rs748794481
NM_002769.5(PRSS1):c.402_403inv (p.Thr135Ala)
NM_002769.5(PRSS1):c.406G>A (p.Gly136Ser)
NM_002769.5(PRSS1):c.408C>A (p.Gly136=) rs1585986936
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.41-14C>A
NM_002769.5(PRSS1):c.41-14C>T rs757743939
NM_002769.5(PRSS1):c.41-49C>T
NM_002769.5(PRSS1):c.411G>A (p.Thr137=) rs369013081
NM_002769.5(PRSS1):c.411G>C (p.Thr137=)
NM_002769.5(PRSS1):c.414G>A (p.Lys138=) rs749482440
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser) rs397507440
NM_002769.5(PRSS1):c.420C>T (p.Leu140=)
NM_002769.5(PRSS1):c.426T>C (p.Ser142=)
NM_002769.5(PRSS1):c.440C>A (p.Thr147Asn)
NM_002769.5(PRSS1):c.444G>A (p.Ala148=) rs11553844
NM_002769.5(PRSS1):c.452G>T (p.Gly151Val) rs1563261623
NM_002769.5(PRSS1):c.454+157C>G rs371236770
NM_002769.5(PRSS1):c.454+16A>G
NM_002769.5(PRSS1):c.454+16A>T rs377570765
NM_002769.5(PRSS1):c.454+36T>C
NM_002769.5(PRSS1):c.454+75A>G rs1376416883
NM_002769.5(PRSS1):c.460T>C (p.Tyr154His)
NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu)
NM_002769.5(PRSS1):c.468C>T (p.Asp156=) rs146076691
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>C (p.Asp162=) 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.498G>A (p.Leu166=)
NM_002769.5(PRSS1):c.498G>C (p.Leu166=)
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.510G>A (p.Lys170=) rs750427023
NM_002769.5(PRSS1):c.51C>A (p.Pro17=)
NM_002769.5(PRSS1):c.522C>T (p.Ser174=)
NM_002769.5(PRSS1):c.523T>A (p.Tyr175Asn) rs756821075
NM_002769.5(PRSS1):c.523T>C (p.Tyr175His)
NM_002769.5(PRSS1):c.534G>A (p.Lys178=) rs267601347
NM_002769.5(PRSS1):c.539C>G (p.Thr180Ser)
NM_002769.5(PRSS1):c.540C>T (p.Thr180=) rs769319141
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.579G>A (p.Lys193=) rs1457186819
NM_002769.5(PRSS1):c.588T>C (p.Cys196=) rs751264273
NM_002769.5(PRSS1):c.58G>A (p.Asp20Asn) rs774895653
NM_002769.5(PRSS1):c.591+9A>C rs755746222
NM_002769.5(PRSS1):c.592-14C>G
NM_002769.5(PRSS1):c.592-17T>G
NM_002769.5(PRSS1):c.592-3dup
NM_002769.5(PRSS1):c.592-4C>T
NM_002769.5(PRSS1):c.592-7C>T rs1443925968
NM_002769.5(PRSS1):c.601G>C (p.Gly201Arg)
NM_002769.5(PRSS1):c.60T>C (p.Asp20=) rs1585978558
NM_002769.5(PRSS1):c.610G>A (p.Val204Met) rs1563263032
NM_002769.5(PRSS1):c.612G>A (p.Val204=)
NM_002769.5(PRSS1):c.617G>C (p.Cys206Ser) rs150930992
NM_002769.5(PRSS1):c.619A>C (p.Asn207His)
NM_002769.5(PRSS1):c.620A>G (p.Asn207Ser)
NM_002769.5(PRSS1):c.625C>G (p.Gln209Glu)
NM_002769.5(PRSS1):c.630C>T (p.Leu210=)
NM_002769.5(PRSS1):c.637G>A (p.Val213Ile) rs200902389
NM_002769.5(PRSS1):c.649G>A (p.Gly217Ser)
NM_002769.5(PRSS1):c.64G>A (p.Asp22Asn) rs1563258794
NM_002769.5(PRSS1):c.651T>C (p.Gly217=) rs562372415
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.672C>T (p.Asn224=)
NM_002769.5(PRSS1):c.681A>C (p.Gly227=) rs780015944
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) rs111033567
NM_002769.5(PRSS1):c.699C>T (p.Tyr233=) rs2116990190
NM_002769.5(PRSS1):c.705T>C (p.Tyr235=)
NM_002769.5(PRSS1):c.721A>T (p.Asn241Tyr) rs141554682
NM_002769.5(PRSS1):c.726C>G (p.Thr242=)
NM_002769.5(PRSS1):c.728T>C (p.Ile243Thr) rs1554499664
NM_002769.5(PRSS1):c.72C>T (p.Ile24=) rs372637371
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.743A>G (p.Ter248=) rs1798883437
NM_002769.5(PRSS1):c.75T>G (p.Val25=)
NM_002769.5(PRSS1):c.80G>A (p.Gly27Asp) rs1798618982
NM_002769.5(PRSS1):c.86A>G (p.Asn29Ser)
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002769.5(PRSS1):c.87C>G (p.Asn29Lys) rs747010881
NM_002769.5(PRSS1):c.87C>T (p.Asn29=) 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_002769.5(PRSS1):c.9A>G (p.Pro3=) rs2116945188
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007272.3(CTRC):c.106G>T (p.Ala36Ser)
NM_007272.3(CTRC):c.130del (p.Gln44fs) rs1344551908
NM_007272.3(CTRC):c.132+15G>A
NM_007272.3(CTRC):c.132+16G>C
NM_007272.3(CTRC):c.132+16G>T
NM_007272.3(CTRC):c.132+20G>A
NM_007272.3(CTRC):c.133-15C>T
NM_007272.3(CTRC):c.133-1G>T rs1557508272
NM_007272.3(CTRC):c.145T>C (p.Tyr49His) rs78247007
NM_007272.3(CTRC):c.150C>G (p.Leu50=)
NM_007272.3(CTRC):c.162G>A (p.Thr54=)
NM_007272.3(CTRC):c.162G>C (p.Thr54=) rs756090858
NM_007272.3(CTRC):c.162G>T (p.Thr54=)
NM_007272.3(CTRC):c.173C>T (p.Thr58Met)
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.180C>T (p.Gly60=) rs497078
NM_007272.3(CTRC):c.194C>T (p.Ala65Val) rs2103289502
NM_007272.3(CTRC):c.1A>G (p.Met1Val)
NM_007272.3(CTRC):c.204C>T (p.Phe68=)
NM_007272.3(CTRC):c.215C>T (p.Ala72Val)
NM_007272.3(CTRC):c.217G>T (p.Ala73Ser) rs515726209
NM_007272.3(CTRC):c.21C>T (p.Leu7=) rs1279354220
NM_007272.3(CTRC):c.220C>T (p.His74Tyr) rs1557508393
NM_007272.3(CTRC):c.230+17C>G
NM_007272.3(CTRC):c.231-11C>A
NM_007272.3(CTRC):c.231-17C>T
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.231-4C>A
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.270C>T (p.Asn90=)
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.356+17C>T
NM_007272.3(CTRC):c.362A>G (p.Asp121Gly)
NM_007272.3(CTRC):c.365T>C (p.Ile122Thr)
NM_007272.3(CTRC):c.369C>G (p.Ala123=)
NM_007272.3(CTRC):c.372C>T (p.Leu124=)
NM_007272.3(CTRC):c.379C>T (p.Leu127Phe)
NM_007272.3(CTRC):c.40+14T>C
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.41-11T>C
NM_007272.3(CTRC):c.437del (p.Asp146fs)
NM_007272.3(CTRC):c.445C>T (p.Leu149Phe)
NM_007272.3(CTRC):c.459C>T (p.Tyr153=)
NM_007272.3(CTRC):c.477C>T (p.Gly159=)
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.494-19C>G
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.528C>T (p.Gly176=)
NM_007272.3(CTRC):c.537C>G (p.Pro179=)
NM_007272.3(CTRC):c.552C>G (p.Ala184=) rs888159659
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.585G>A (p.Arg195=)
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.639+13G>A
NM_007272.3(CTRC):c.640-11G>T
NM_007272.3(CTRC):c.640-6G>A
NM_007272.3(CTRC):c.642G>A (p.Gly214=) rs1265655451
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.660G>A (p.Leu220=)
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.672G>A (p.Leu224=) rs2103293066
NM_007272.3(CTRC):c.675G>A (p.Glu225=)
NM_007272.3(CTRC):c.681T>A (p.Gly227=) rs1389820334
NM_007272.3(CTRC):c.702C>T (p.Ile234=)
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.737G>T (p.Arg246Leu) rs147925927
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
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.765G>A (p.Val255=) rs1570786781
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.788A>G (p.Asn263Ser) rs769975164
NM_007272.3(CTRC):c.791A>G (p.Glu264Gly)
NM_007272.3(CTRC):c.792+10G>A rs1301778392
NM_007272.3(CTRC):c.792+13T>A
NM_007272.3(CTRC):c.792+19G>A
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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