ClinVar Miner

List of variants reported as uncertain significance for pancreas disorder by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 953
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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_001166108.2(PALLD):c.3301G>C (p.Val1101Leu) rs368806050 0.00051
NM_001626.6(AKT2):c.347G>C (p.Gly116Ala) rs141209878 0.00036
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn) rs143014431 0.00034
NM_001166108.2(PALLD):c.1965-12924C>T rs1048547337 0.00032
NM_001626.6(AKT2):c.623G>A (p.Arg208Lys) rs35817154 0.00029
NM_007272.3(CTRC):c.251T>C (p.Val84Ala) rs200369419 0.00028
NM_001166108.2(PALLD):c.1965-12812C>A rs532961259 0.00027
NM_001166108.2(PALLD):c.1965-12616C>T rs121908291 0.00026
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu) rs142560329 0.00022
NM_001166108.2(PALLD):c.2197C>G (p.Gln733Glu) rs140360991 0.00019
NM_001379610.1(SPINK1):c.-53C>T rs367798627 0.00019
NM_001626.6(AKT2):c.1399C>T (p.Arg467Trp) rs142926499 0.00019
NM_002769.5(PRSS1):c.453C>T (p.Gly151=) rs147765409 0.00018
NM_005327.7(HADH):c.809C>T (p.Thr270Met) rs577954688 0.00017
NM_003122.5(SPINK1):c.-142T>C rs755968566 0.00016
NM_001166108.2(PALLD):c.1965-12907G>A rs780516159 0.00013
NM_001166108.2(PALLD):c.2695T>A (p.Ser899Thr) rs182571219 0.00012
NM_001166108.2(PALLD):c.2414T>G (p.Ile805Ser) rs150764613 0.00011
NM_001626.6(AKT2):c.1115C>T (p.Thr372Met) rs139506765 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_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_001166108.2(PALLD):c.1966G>A (p.Gly656Arg) rs149631023 0.00009
NM_001166108.2(PALLD):c.2905C>T (p.Arg969Cys) rs374741161 0.00009
NM_002769.5(PRSS1):c.40+1G>A rs149125789 0.00009
NM_001166108.2(PALLD):c.2749G>A (p.Glu917Lys) rs372708613 0.00008
NM_002769.5(PRSS1):c.284G>A (p.Arg95His) rs375820192 0.00008
NM_001166108.2(PALLD):c.1965-12748G>C rs551131343 0.00007
NM_001166108.2(PALLD):c.1975A>G (p.Lys659Glu) rs370768506 0.00007
NM_001166108.2(PALLD):c.2627G>A (p.Arg876His) rs115274645 0.00007
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_001166108.2(PALLD):c.*108C>T rs863224704 0.00006
NM_001166108.2(PALLD):c.1965-12705C>T rs774034818 0.00006
NM_001166108.2(PALLD):c.2635T>G (p.Cys879Gly) rs368472947 0.00006
NM_001166108.2(PALLD):c.3134G>A (p.Arg1045Gln) rs758408204 0.00006
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_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613 0.00006
NM_005327.7(HADH):c.361G>A (p.Val121Met) rs377615662 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_001166108.2(PALLD):c.2645G>A (p.Arg882Gln) rs780692056 0.00005
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_001166108.2(PALLD):c.1965-12673C>T rs925242863 0.00004
NM_001166108.2(PALLD):c.1965-12777C>T rs864622140 0.00004
NM_001166108.2(PALLD):c.1965-12795C>T rs587780759 0.00004
NM_001166108.2(PALLD):c.1965-12928G>A rs587780753 0.00004
NM_001166108.2(PALLD):c.2072A>G (p.Lys691Arg) rs144380526 0.00004
NM_001166108.2(PALLD):c.2092G>T (p.Gly698Cys) rs143417961 0.00004
NM_001166108.2(PALLD):c.2356G>A (p.Val786Met) rs587780197 0.00004
NM_001166108.2(PALLD):c.2719C>G (p.Pro907Ala) rs141155457 0.00004
NM_001166108.2(PALLD):c.2894G>A (p.Gly965Glu) rs760392120 0.00004
NM_001166108.2(PALLD):c.2980C>T (p.Arg994Cys) rs151071844 0.00004
NM_001166108.2(PALLD):c.3218G>A (p.Arg1073Gln) rs376394488 0.00004
NM_001166108.2(PALLD):c.3269G>A (p.Gly1090Glu) rs587780756 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_001626.6(AKT2):c.19A>G (p.Ile7Val) rs199748431 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_005327.7(HADH):c.820G>A (p.Val274Met) rs543440046 0.00004
NM_005327.7(HADH):c.908G>T (p.Gly303Val) rs575378007 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_001166108.2(PALLD):c.1965-12637C>G rs878854264 0.00003
NM_001166108.2(PALLD):c.1965-12692_1965-12681dup rs778313832 0.00003
NM_001166108.2(PALLD):c.1965-12903C>G rs1476099718 0.00003
NM_001166108.2(PALLD):c.1965-12913A>C rs864622422 0.00003
NM_001166108.2(PALLD):c.2326G>C (p.Glu776Gln) rs559000839 0.00003
NM_001166108.2(PALLD):c.2651T>C (p.Met884Thr) rs587780200 0.00003
NM_001166108.2(PALLD):c.2790C>A (p.Phe930Leu) rs370652817 0.00003
NM_001166108.2(PALLD):c.2944G>A (p.Gly982Arg) rs115988233 0.00003
NM_001166108.2(PALLD):c.3229C>T (p.His1077Tyr) rs778210310 0.00003
NM_001166108.2(PALLD):c.3244G>A (p.Gly1082Ser) rs745362518 0.00003
NM_001626.6(AKT2):c.1112G>A (p.Arg371His) rs778561687 0.00003
NM_001626.6(AKT2):c.526C>T (p.Arg176Cys) rs757233968 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_005271.5(GLUD1):c.1568G>A (p.Arg523His) rs761933718 0.00003
NM_005327.7(HADH):c.325G>A (p.Val109Ile) rs199810422 0.00003
NM_005327.7(HADH):c.47C>T (p.Ser16Phe) rs374248298 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_001166108.2(PALLD):c.*153A>G rs535118290 0.00002
NM_001166108.2(PALLD):c.1965-12535A>C rs878854266 0.00002
NM_001166108.2(PALLD):c.1965-12552G>C rs557697540 0.00002
NM_001166108.2(PALLD):c.1965-12639C>G rs1313429903 0.00002
NM_001166108.2(PALLD):c.1965-12724C>T rs1311193979 0.00002
NM_001166108.2(PALLD):c.1965-12870T>C rs1474793366 0.00002
NM_001166108.2(PALLD):c.1965-12918A>G rs888513189 0.00002
NM_001166108.2(PALLD):c.1965-12937C>T rs863224705 0.00002
NM_001166108.2(PALLD):c.1965-13000G>T rs370602081 0.00002
NM_001166108.2(PALLD):c.2066G>A (p.Arg689His) rs758090588 0.00002
NM_001166108.2(PALLD):c.2285T>C (p.Ile762Thr) rs757164572 0.00002
NM_001166108.2(PALLD):c.2294T>C (p.Ile765Thr) rs749391847 0.00002
NM_001166108.2(PALLD):c.2303G>A (p.Arg768Lys) rs1385898569 0.00002
NM_001166108.2(PALLD):c.2312G>A (p.Arg771Lys) rs201707558 0.00002
NM_001166108.2(PALLD):c.2482T>C (p.Phe828Leu) rs1160463247 0.00002
NM_001166108.2(PALLD):c.2621A>G (p.Gln874Arg) rs761530979 0.00002
NM_001166108.2(PALLD):c.2797G>A (p.Ala933Thr) rs755556663 0.00002
NM_001166108.2(PALLD):c.2801C>T (p.Pro934Leu) rs756934356 0.00002
NM_001166108.2(PALLD):c.2815G>C (p.Val939Leu) rs778471055 0.00002
NM_001166108.2(PALLD):c.2891A>C (p.Asp964Ala) rs750112132 0.00002
NM_001166108.2(PALLD):c.2935C>T (p.Arg979Cys) rs367575623 0.00002
NM_001166108.2(PALLD):c.2999C>T (p.Thr1000Ile) rs201412478 0.00002
NM_001166108.2(PALLD):c.3089T>C (p.Ile1030Thr) rs774078101 0.00002
NM_001166108.2(PALLD):c.3133C>T (p.Arg1045Trp) rs753881003 0.00002
NM_001166108.2(PALLD):c.3357C>T (p.Tyr1119=) rs757791701 0.00002
NM_001626.6(AKT2):c.169G>A (p.Val57Ile) rs1407888862 0.00002
NM_001626.6(AKT2):c.550C>T (p.Arg184Trp) rs752597471 0.00002
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_005271.5(GLUD1):c.154C>A (p.His52Asn) rs750420022 0.00002
NM_005327.7(HADH):c.34G>A (p.Val12Met) rs139920805 0.00002
NM_005327.7(HADH):c.479C>T (p.Thr160Ile) rs780252799 0.00002
NM_005327.7(HADH):c.757G>A (p.Gly253Ser) rs749276908 0.00002
NM_005327.7(HADH):c.817A>G (p.Ile273Val) rs1404810726 0.00002
NM_005327.7(HADH):c.863A>C (p.Gln288Pro) rs751120678 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_001166108.2(PALLD):c.*110G>C rs577454433 0.00001
NM_001166108.2(PALLD):c.*127C>G rs1306250811 0.00001
NM_001166108.2(PALLD):c.*135C>T rs1314886283 0.00001
NM_001166108.2(PALLD):c.*185G>T rs1032243256 0.00001
NM_001166108.2(PALLD):c.*33C>A rs569054006 0.00001
NM_001166108.2(PALLD):c.*77C>T rs1060502976 0.00001
NM_001166108.2(PALLD):c.1965-12534C>A rs1162490423 0.00001
NM_001166108.2(PALLD):c.1965-12544A>G rs1244776142 0.00001
NM_001166108.2(PALLD):c.1965-12579C>T rs1009236606 0.00001
NM_001166108.2(PALLD):c.1965-12597C>A rs1221751077 0.00001
NM_001166108.2(PALLD):c.1965-12687C>T rs1201472346 0.00001
NM_001166108.2(PALLD):c.1965-12697C>T rs1752078843 0.00001
NM_001166108.2(PALLD):c.1965-12699C>T rs1752078030 0.00001
NM_001166108.2(PALLD):c.1965-12702T>G rs1560840468 0.00001
NM_001166108.2(PALLD):c.1965-12708T>G rs1281589180 0.00001
NM_001166108.2(PALLD):c.1965-12709T>C rs1043636321 0.00001
NM_001166108.2(PALLD):c.1965-12813T>C rs1290110172 0.00001
NM_001166108.2(PALLD):c.1965-12837C>G rs1581871066 0.00001
NM_001166108.2(PALLD):c.1965-12850T>G rs957770223 0.00001
NM_001166108.2(PALLD):c.1965-12931C>T rs1452134652 0.00001
NM_001166108.2(PALLD):c.2008G>A (p.Asp670Asn) rs767729090 0.00001
NM_001166108.2(PALLD):c.2012A>T (p.Glu671Val) rs753140123 0.00001
NM_001166108.2(PALLD):c.2057G>A (p.Arg686Gln) rs1031710807 0.00001
NM_001166108.2(PALLD):c.2099C>T (p.Pro700Leu) rs1255873290 0.00001
NM_001166108.2(PALLD):c.2125G>A (p.Ala709Thr) rs775439441 0.00001
NM_001166108.2(PALLD):c.2163T>G (p.Phe721Leu) rs768485147 0.00001
NM_001166108.2(PALLD):c.2176C>A (p.Pro726Thr) rs1553969553 0.00001
NM_001166108.2(PALLD):c.2199+4C>T rs1060502973 0.00001
NM_001166108.2(PALLD):c.2251G>A (p.Glu751Lys) rs759161069 0.00001
NM_001166108.2(PALLD):c.2267G>C (p.Ser756Thr) rs763802548 0.00001
NM_001166108.2(PALLD):c.2333G>T (p.Gly778Val) rs864622234 0.00001
NM_001166108.2(PALLD):c.2340A>C (p.Glu780Asp) rs1431975703 0.00001
NM_001166108.2(PALLD):c.2353G>T (p.Asp785Tyr) rs759105985 0.00001
NM_001166108.2(PALLD):c.2542G>A (p.Asp848Asn) rs746329925 0.00001
NM_001166108.2(PALLD):c.2626C>T (p.Arg876Cys) rs764242515 0.00001
NM_001166108.2(PALLD):c.2678G>A (p.Arg893Gln) rs747702421 0.00001
NM_001166108.2(PALLD):c.2693C>T (p.Pro898Leu) rs1216822754 0.00001
NM_001166108.2(PALLD):c.2704C>T (p.Pro902Ser) rs114673468 0.00001
NM_001166108.2(PALLD):c.2722C>T (p.Arg908Cys) rs369054918 0.00001
NM_001166108.2(PALLD):c.2740A>G (p.Ser914Gly) rs950480850 0.00001
NM_001166108.2(PALLD):c.2761A>G (p.Ile921Val) rs375970126 0.00001
NM_001166108.2(PALLD):c.2764C>G (p.Gln922Glu) rs960430324 0.00001
NM_001166108.2(PALLD):c.2771G>A (p.Arg924Gln) rs755336512 0.00001
NM_001166108.2(PALLD):c.2812A>T (p.Thr938Ser) rs1171944020 0.00001
NM_001166108.2(PALLD):c.2858G>A (p.Gly953Glu) rs753316618 0.00001
NM_001166108.2(PALLD):c.2867C>T (p.Thr956Ile) rs371498362 0.00001
NM_001166108.2(PALLD):c.2884C>G (p.Gln962Glu) rs1271164196 0.00001
NM_001166108.2(PALLD):c.2899C>T (p.Pro967Ser) rs1176026649 0.00001
NM_001166108.2(PALLD):c.2902G>A (p.Val968Ile) rs551420048 0.00001
NM_001166108.2(PALLD):c.2906G>A (p.Arg969His) rs769973229 0.00001
NM_001166108.2(PALLD):c.2914A>G (p.Ser972Gly) rs774568391 0.00001
NM_001166108.2(PALLD):c.3076C>A (p.Pro1026Thr) rs762353255 0.00001
NM_001166108.2(PALLD):c.3145C>T (p.Arg1049Cys) rs548068667 0.00001
NM_001166108.2(PALLD):c.3146G>A (p.Arg1049His) rs755223646 0.00001
NM_001166108.2(PALLD):c.3238A>C (p.Asn1080His) rs771536528 0.00001
NM_001166108.2(PALLD):c.3254G>A (p.Cys1085Tyr) rs771679229 0.00001
NM_001166108.2(PALLD):c.3282A>T (p.Glu1094Asp) rs1447433925 0.00001
NM_001166108.2(PALLD):c.3352G>A (p.Val1118Ile) rs781065277 0.00001
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_001626.6(AKT2):c.1036G>A (p.Gly346Ser) rs1169786300 0.00001
NM_001626.6(AKT2):c.1363C>T (p.Arg455Cys) rs757239082 0.00001
NM_001626.6(AKT2):c.268G>A (p.Val90Met) rs1160079555 0.00001
NM_001626.6(AKT2):c.337C>T (p.Arg113Trp) rs1054914884 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_005271.5(GLUD1):c.1181C>T (p.Pro394Leu) rs777564388 0.00001
NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr) rs780956934 0.00001
NM_005271.5(GLUD1):c.646+3A>G rs1846331910 0.00001
NM_005327.7(HADH):c.126T>G (p.Ile42Met) rs1264862903 0.00001
NM_005327.7(HADH):c.266G>A (p.Gly89Asp) rs1292646768 0.00001
NM_005327.7(HADH):c.280G>C (p.Glu94Gln) rs1274785101 0.00001
NM_005327.7(HADH):c.283A>G (p.Lys95Glu) rs536173298 0.00001
NM_005327.7(HADH):c.449C>T (p.Ser150Phe) rs1735809175 0.00001
NM_005327.7(HADH):c.494G>A (p.Arg165Gln) rs768880930 0.00001
NM_005327.7(HADH):c.707G>A (p.Arg236Gln) rs748945961 0.00001
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys) rs771071992 0.00001
NM_005327.7(HADH):c.889G>A (p.Val297Ile) rs376876153 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.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.752T>C (p.Val251Ala) rs1175956798 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_000004.11:g.(?_108816710)_(108955513_?)dup
NC_000004.11:g.(?_108911069)_(108955533_?)dup
NC_000004.11:g.(?_169799043)_(169847536_?)del
NC_000004.11:g.(?_169815658)_(169819885_?)del
NC_000004.12:g.(?_168877882)_(168926395_?)dup
NC_000004.12:g.(?_168877892)_(168926385_?)dup
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
NC_000010.10:g.(?_88811508)_(88822612_?)dup
NC_000010.10:g.(?_88854062)_(88854526_?)del
NC_000019.9:g.(?_39205089)_(40913839_?)dup
NM_001166108.2(PALLD):c.*155C>G rs1560940853
NM_001166108.2(PALLD):c.*161C>T rs1762577012
NM_001166108.2(PALLD):c.*168C>A
NM_001166108.2(PALLD):c.*182T>A
NM_001166108.2(PALLD):c.*194G>C rs893660432
NM_001166108.2(PALLD):c.*203T>A rs1762582426
NM_001166108.2(PALLD):c.*33C>T rs569054006
NM_001166108.2(PALLD):c.*37G>T
NM_001166108.2(PALLD):c.*40G>C rs2126617157
NM_001166108.2(PALLD):c.*41C>T rs2126617192
NM_001166108.2(PALLD):c.*57del
NM_001166108.2(PALLD):c.*60C>A
NM_001166108.2(PALLD):c.*63A>G
NM_001166108.2(PALLD):c.*69A>T rs2126617465
NM_001166108.2(PALLD):c.*71A>G rs2126617547
NM_001166108.2(PALLD):c.*71_*73dup
NM_001166108.2(PALLD):c.*73A>T
NM_001166108.2(PALLD):c.*93G>A
NM_001166108.2(PALLD):c.*96A>T
NM_001166108.2(PALLD):c.1964+44317_1964+44318inv
NM_001166108.2(PALLD):c.1965-12528C>T
NM_001166108.2(PALLD):c.1965-12532C>A rs979242789
NM_001166108.2(PALLD):c.1965-12540G>A
NM_001166108.2(PALLD):c.1965-12543A>G rs969187093
NM_001166108.2(PALLD):c.1965-12549T>C
NM_001166108.2(PALLD):c.1965-12550C>A
NM_001166108.2(PALLD):c.1965-12553G>A
NM_001166108.2(PALLD):c.1965-12570C>T rs587780761
NM_001166108.2(PALLD):c.1965-12571G>A
NM_001166108.2(PALLD):c.1965-12573C>G rs1220928329
NM_001166108.2(PALLD):c.1965-12580C>G rs1752110315
NM_001166108.2(PALLD):c.1965-12581GCC[2] rs1291430290
NM_001166108.2(PALLD):c.1965-12581GCC[4]
NM_001166108.2(PALLD):c.1965-12582_1965-12577dup
NM_001166108.2(PALLD):c.1965-12597C>G
NM_001166108.2(PALLD):c.1965-12597C>T rs1221751077
NM_001166108.2(PALLD):c.1965-12598G>C rs2151120162
NM_001166108.2(PALLD):c.1965-12601A>G
NM_001166108.2(PALLD):c.1965-12612C>A rs2151119973
NM_001166108.2(PALLD):c.1965-12620G>T
NM_001166108.2(PALLD):c.1965-12625_1965-12624delinsGC
NM_001166108.2(PALLD):c.1965-12626_1965-12625inv
NM_001166108.2(PALLD):c.1965-12627A>C
NM_001166108.2(PALLD):c.1965-12637C>A
NM_001166108.2(PALLD):c.1965-12640A>G
NM_001166108.2(PALLD):c.1965-12648C>T
NM_001166108.2(PALLD):c.1965-12658C>T
NM_001166108.2(PALLD):c.1965-12663C>T
NM_001166108.2(PALLD):c.1965-12678C>T
NM_001166108.2(PALLD):c.1965-12679C>G
NM_001166108.2(PALLD):c.1965-12684C>T
NM_001166108.2(PALLD):c.1965-12688C>T
NM_001166108.2(PALLD):c.1965-12693_1965-12682del
NM_001166108.2(PALLD):c.1965-12696C>T rs1752080178
NM_001166108.2(PALLD):c.1965-12698_1965-12690del rs1752077261
NM_001166108.2(PALLD):c.1965-12701GCC[6] rs748729107
NM_001166108.2(PALLD):c.1965-12713C>G
NM_001166108.2(PALLD):c.1965-12720T>A
NM_001166108.2(PALLD):c.1965-12723C>A
NM_001166108.2(PALLD):c.1965-12723C>T rs748894104
NM_001166108.2(PALLD):c.1965-12730G>A
NM_001166108.2(PALLD):c.1965-12735C>A rs1434151476
NM_001166108.2(PALLD):c.1965-12744T>C
NM_001166108.2(PALLD):c.1965-12753C>T
NM_001166108.2(PALLD):c.1965-12758_1965-12753del rs864622087
NM_001166108.2(PALLD):c.1965-12758_1965-12753dup rs864622087
NM_001166108.2(PALLD):c.1965-12761_1965-12756del rs730882137
NM_001166108.2(PALLD):c.1965-12762C>G
NM_001166108.2(PALLD):c.1965-12764_1965-12763insTCCCCG rs1201131054
NM_001166108.2(PALLD):c.1965-12766C>T
NM_001166108.2(PALLD):c.1965-12766_1965-12737del rs2151118113
NM_001166108.2(PALLD):c.1965-12769C>A rs1246689760
NM_001166108.2(PALLD):c.1965-12771C>T rs1560839872
NM_001166108.2(PALLD):c.1965-12772T>C rs1161219308
NM_001166108.2(PALLD):c.1965-12772delinsCCGCCCC rs1553965326
NM_001166108.2(PALLD):c.1965-12773_1965-12768dup
NM_001166108.2(PALLD):c.1965-12785CTC[2] rs1343996300
NM_001166108.2(PALLD):c.1965-12790_1965-12764del
NM_001166108.2(PALLD):c.1965-12792C>T
NM_001166108.2(PALLD):c.1965-12799G>A
NM_001166108.2(PALLD):c.1965-12802_1965-12797del rs1264657310
NM_001166108.2(PALLD):c.1965-12805G>C rs1553965295
NM_001166108.2(PALLD):c.1965-12811G>A
NM_001166108.2(PALLD):c.1965-12816C>T
NM_001166108.2(PALLD):c.1965-12821_1965-12807del rs2151117365
NM_001166108.2(PALLD):c.1965-12822C>A
NM_001166108.2(PALLD):c.1965-12822_1965-12811del
NM_001166108.2(PALLD):c.1965-12822_1965-12811dup
NM_001166108.2(PALLD):c.1965-12823G>A
NM_001166108.2(PALLD):c.1965-12823G>C
NM_001166108.2(PALLD):c.1965-12828C>T rs1060502974
NM_001166108.2(PALLD):c.1965-12832C>A rs1060502975
NM_001166108.2(PALLD):c.1965-12835G>A
NM_001166108.2(PALLD):c.1965-12838C>G rs1219099309
NM_001166108.2(PALLD):c.1965-12841G>A rs987780445
NM_001166108.2(PALLD):c.1965-12844C>G
NM_001166108.2(PALLD):c.1965-12847G>A
NM_001166108.2(PALLD):c.1965-12848C>G
NM_001166108.2(PALLD):c.1965-12859C>T rs1752033511
NM_001166108.2(PALLD):c.1965-12869G>A rs2151116805
NM_001166108.2(PALLD):c.1965-12873C>T
NM_001166108.2(PALLD):c.1965-12879C>G
NM_001166108.2(PALLD):c.1965-12879C>T rs958031030
NM_001166108.2(PALLD):c.1965-12880C>T rs1263751006
NM_001166108.2(PALLD):c.1965-12882T>A rs1752027354
NM_001166108.2(PALLD):c.1965-12883C>T
NM_001166108.2(PALLD):c.1965-12889T>C rs1553965214
NM_001166108.2(PALLD):c.1965-12901A>C
NM_001166108.2(PALLD):c.1965-12905_1965-12891del rs587780754
NM_001166108.2(PALLD):c.1965-12906C>A
NM_001166108.2(PALLD):c.1965-12909C>G
NM_001166108.2(PALLD):c.1965-12915G>A
NM_001166108.2(PALLD):c.1965-12916G>A
NM_001166108.2(PALLD):c.1965-12916G>T
NM_001166108.2(PALLD):c.1965-12918A>T
NM_001166108.2(PALLD):c.1965-12928G>C rs587780753
NM_001166108.2(PALLD):c.1965-12930C>T
NM_001166108.2(PALLD):c.1965-12934G>A
NM_001166108.2(PALLD):c.1965-12938C>A
NM_001166108.2(PALLD):c.1965-12945C>T
NM_001166108.2(PALLD):c.1965-12964C>T rs1752004838
NM_001166108.2(PALLD):c.1965-12969C>T
NM_001166108.2(PALLD):c.1965-12982_1965-12839del
NM_001166108.2(PALLD):c.1965-12985G>A
NM_001166108.2(PALLD):c.1965-12985G>C
NM_001166108.2(PALLD):c.1965-12987C>T rs1751999027
NM_001166108.2(PALLD):c.1965-12990C>A rs864622627
NM_001166108.2(PALLD):c.1965-12990C>T rs864622627
NM_001166108.2(PALLD):c.1965-12993A>G
NM_001166108.2(PALLD):c.1965-12993A>T
NM_001166108.2(PALLD):c.1965-12997A>T rs2151115353
NM_001166108.2(PALLD):c.1965-13000G>C rs370602081
NM_001166108.2(PALLD):c.1965-13001del rs1751995307
NM_001166108.2(PALLD):c.1965-13006G>A
NM_001166108.2(PALLD):c.1965-13012C>T
NM_001166108.2(PALLD):c.1965-13017C>T
NM_001166108.2(PALLD):c.1965-13018G>A
NM_001166108.2(PALLD):c.1965-13026G>A rs1751989868
NM_001166108.2(PALLD):c.1965-13028_1965-13016dup rs1751989521
NM_001166108.2(PALLD):c.1975AAG[1] (p.Lys660del) rs864622531
NM_001166108.2(PALLD):c.1976A>T (p.Lys659Met) rs766621175
NM_001166108.2(PALLD):c.1978_1979delinsGC (p.Lys660Ala)
NM_001166108.2(PALLD):c.1981G>C (p.Ala661Pro) rs878854267
NM_001166108.2(PALLD):c.1981G>T (p.Ala661Ser)
NM_001166108.2(PALLD):c.1984A>T (p.Ser662Cys) rs1279652646
NM_001166108.2(PALLD):c.1985G>A (p.Ser662Asn)
NM_001166108.2(PALLD):c.2006C>T (p.Ser669Phe)
NM_001166108.2(PALLD):c.2024G>A (p.Gly675Asp)
NM_001166108.2(PALLD):c.2032G>A (p.Asp678Asn) rs764564619
NM_001166108.2(PALLD):c.2045A>G (p.Gln682Arg)
NM_001166108.2(PALLD):c.2056C>T (p.Arg686Ter) rs1754079127
NM_001166108.2(PALLD):c.2065C>T (p.Arg689Cys)
NM_001166108.2(PALLD):c.2066G>C (p.Arg689Pro)
NM_001166108.2(PALLD):c.2100+5T>C
NM_001166108.2(PALLD):c.2100G>C (p.Pro700=) rs1553968628
NM_001166108.2(PALLD):c.2101-3T>C rs1350140320
NM_001166108.2(PALLD):c.2120G>C (p.Arg707Thr)
NM_001166108.2(PALLD):c.2128C>T (p.Arg710Cys)
NM_001166108.2(PALLD):c.2129G>A (p.Arg710His)
NM_001166108.2(PALLD):c.2144C>T (p.Ala715Val) rs878854268
NM_001166108.2(PALLD):c.2147A>T (p.Asp716Val)
NM_001166108.2(PALLD):c.2153C>T (p.Ala718Val)
NM_001166108.2(PALLD):c.2156C>T (p.Thr719Ile) rs1389047255
NM_001166108.2(PALLD):c.2158G>A (p.Val720Ile) rs1407253197
NM_001166108.2(PALLD):c.2176C>G (p.Pro726Ala)
NM_001166108.2(PALLD):c.2182G>C (p.Glu728Gln) rs1754736103
NM_001166108.2(PALLD):c.2198A>G (p.Gln733Arg)
NM_001166108.2(PALLD):c.2254T>C (p.Tyr752His)
NM_001166108.2(PALLD):c.2255A>T (p.Tyr752Phe)
NM_001166108.2(PALLD):c.2258A>G (p.Lys753Arg) rs1318598425
NM_001166108.2(PALLD):c.2260G>A (p.Val754Ile)
NM_001166108.2(PALLD):c.2264C>A (p.Ser755Tyr) rs1755762387
NM_001166108.2(PALLD):c.2266A>G (p.Ser756Gly)
NM_001166108.2(PALLD):c.2275C>A (p.Gln759Lys) rs1050591975
NM_001166108.2(PALLD):c.2275C>G (p.Gln759Glu) rs1050591975
NM_001166108.2(PALLD):c.2324A>C (p.Asp775Ala)
NM_001166108.2(PALLD):c.2338G>C (p.Glu780Gln) rs2151263543
NM_001166108.2(PALLD):c.2347T>G (p.Tyr783Asp) rs864622355
NM_001166108.2(PALLD):c.2357T>G (p.Val786Gly)
NM_001166108.2(PALLD):c.2358_2359insAATGGCACATTCCACATTT (p.Pro787fs)
NM_001166108.2(PALLD):c.2362G>T (p.Val788Leu) rs587780762
NM_001166108.2(PALLD):c.2366A>G (p.Glu789Gly)
NM_001166108.2(PALLD):c.2392A>G (p.Met798Val)
NM_001166108.2(PALLD):c.2399T>C (p.Leu800Pro) rs1298095064
NM_001166108.2(PALLD):c.2414T>C (p.Ile805Thr) rs150764613
NM_001166108.2(PALLD):c.2428C>T (p.Pro810Ser)
NM_001166108.2(PALLD):c.2429C>A (p.Pro810Gln)
NM_001166108.2(PALLD):c.2438T>G (p.Phe813Cys) rs1461519731
NM_001166108.2(PALLD):c.2453C>T (p.Ala818Val)
NM_001166108.2(PALLD):c.2472+5G>A
NM_001166108.2(PALLD):c.2477A>C (p.Tyr826Ser) rs372470150
NM_001166108.2(PALLD):c.2481G>A (p.Trp827Ter)
NM_001166108.2(PALLD):c.2491G>A (p.Gly831Arg)
NM_001166108.2(PALLD):c.2507C>G (p.Pro836Arg) rs1464837952
NM_001166108.2(PALLD):c.2513G>A (p.Ser838Asn) rs863224702
NM_001166108.2(PALLD):c.2516A>G (p.Asp839Gly)
NM_001166108.2(PALLD):c.2520C>A (p.His840Gln) rs864622316
NM_001166108.2(PALLD):c.2522A>G (p.Tyr841Cys)
NM_001166108.2(PALLD):c.2524A>G (p.Thr842Ala) rs1553973196
NM_001166108.2(PALLD):c.2527A>G (p.Ile843Val) rs587780198
NM_001166108.2(PALLD):c.2530C>A (p.Gln844Lys) rs1757056910
NM_001166108.2(PALLD):c.2531A>G (p.Gln844Arg)
NM_001166108.2(PALLD):c.2535A>T (p.Arg845Ser) rs1757058174
NM_001166108.2(PALLD):c.2539C>G (p.Leu847Val)
NM_001166108.2(PALLD):c.2549C>A (p.Thr850Asn) rs1380474191
NM_001166108.2(PALLD):c.2552G>T (p.Cys851Phe)
NM_001166108.2(PALLD):c.2576C>T (p.Thr859Ile) rs864622388
NM_001166108.2(PALLD):c.2584G>C (p.Asp862His) rs899774397
NM_001166108.2(PALLD):c.2602A>G (p.Ile868Val)
NM_001166108.2(PALLD):c.2622+3A>G
NM_001166108.2(PALLD):c.2635T>C (p.Cys879Arg)
NM_001166108.2(PALLD):c.2669A>G (p.Gln890Arg)
NM_001166108.2(PALLD):c.2670A>C (p.Gln890His)
NM_001166108.2(PALLD):c.2674G>A (p.Gly892Ser) rs1190472798
NM_001166108.2(PALLD):c.2675G>A (p.Gly892Asp) rs863224703
NM_001166108.2(PALLD):c.2686C>T (p.Arg896Trp) rs772889018
NM_001166108.2(PALLD):c.2687G>A (p.Arg896Gln) rs373500403
NM_001166108.2(PALLD):c.2696C>T (p.Ser899Leu)
NM_001166108.2(PALLD):c.2701C>T (p.His901Tyr) rs2151408223
NM_001166108.2(PALLD):c.2704C>A (p.Pro902Thr) rs114673468
NM_001166108.2(PALLD):c.2708A>G (p.His903Arg)
NM_001166108.2(PALLD):c.2718-3A>C
NM_001166108.2(PALLD):c.2723G>C (p.Arg908Pro) rs114171764
NM_001166108.2(PALLD):c.2745del (p.Asp916fs)
NM_001166108.2(PALLD):c.2747A>G (p.Asp916Gly)
NM_001166108.2(PALLD):c.2754T>A (p.Asn918Lys) rs927644209
NM_001166108.2(PALLD):c.2785C>A (p.His929Asn)
NM_001166108.2(PALLD):c.2800C>T (p.Pro934Ser)
NM_001166108.2(PALLD):c.2803G>A (p.Gly935Arg) rs2151424394
NM_001166108.2(PALLD):c.2804G>T (p.Gly935Val) rs2151424408
NM_001166108.2(PALLD):c.2808T>A (p.Asp936Glu)
NM_001166108.2(PALLD):c.2810T>A (p.Leu937Gln) rs1470434769
NM_001166108.2(PALLD):c.2810T>G (p.Leu937Arg) rs1470434769
NM_001166108.2(PALLD):c.2815G>A (p.Val939Ile)
NM_001166108.2(PALLD):c.2818C>A (p.Gln940Lys)
NM_001166108.2(PALLD):c.2819A>G (p.Gln940Arg)
NM_001166108.2(PALLD):c.2850+4A>C
NM_001166108.2(PALLD):c.2864C>T (p.Pro955Leu) rs2126493927
NM_001166108.2(PALLD):c.2873A>C (p.Asp958Ala) rs1761523394
NM_001166108.2(PALLD):c.2890G>C (p.Asp964His) rs1490808015
NM_001166108.2(PALLD):c.2923A>G (p.Lys975Glu) rs2126495446
NM_001166108.2(PALLD):c.2944G>C (p.Gly982Arg)
NM_001166108.2(PALLD):c.2951A>G (p.His984Arg)
NM_001166108.2(PALLD):c.2981G>A (p.Arg994His) rs1010581356
NM_001166108.2(PALLD):c.2983G>C (p.Asp995His) rs751364707
NM_001166108.2(PALLD):c.2987C>T (p.Ala996Val) rs190961769
NM_001166108.2(PALLD):c.2989G>A (p.Gly997Ser)
NM_001166108.2(PALLD):c.2992A>G (p.Ile998Val)
NM_001166108.2(PALLD):c.2998A>G (p.Thr1000Ala)
NM_001166108.2(PALLD):c.3005T>C (p.Ile1002Thr) rs1761543823
NM_001166108.2(PALLD):c.3017G>A (p.Arg1006Gln)
NM_001166108.2(PALLD):c.3046C>T (p.Leu1016Phe) rs1761546367
NM_001166108.2(PALLD):c.3050T>C (p.Val1017Ala) rs1560929667
NM_001166108.2(PALLD):c.3052G>A (p.Val1018Ile)
NM_001166108.2(PALLD):c.3077C>G (p.Pro1026Arg)
NM_001166108.2(PALLD):c.3087del (p.Phe1029fs)
NM_001166108.2(PALLD):c.3090T>G (p.Ile1030Met) rs767384375
NM_001166108.2(PALLD):c.3107C>T (p.Thr1036Ile) rs1324020366
NM_001166108.2(PALLD):c.3112G>C (p.Val1038Leu) rs1762161869
NM_001166108.2(PALLD):c.3124T>C (p.Tyr1042His)
NM_001166108.2(PALLD):c.3139G>A (p.Glu1047Lys) rs1202242941
NM_001166108.2(PALLD):c.3144_3145delinsCT (p.Arg1049Cys) rs1762165732
NM_001166108.2(PALLD):c.3158T>C (p.Val1053Ala) rs1582242284
NM_001166108.2(PALLD):c.3167C>T (p.Pro1056Leu)
NM_001166108.2(PALLD):c.3171G>C (p.Gln1057His)
NM_001166108.2(PALLD):c.3177T>A (p.Phe1059Leu) rs778134231
NM_001166108.2(PALLD):c.3185A>C (p.Lys1062Thr) rs1762171174
NM_001166108.2(PALLD):c.3199C>G (p.Leu1067Val) rs200399043
NM_001166108.2(PALLD):c.3224G>A (p.Ser1075Asn)
NM_001166108.2(PALLD):c.3226A>G (p.Met1076Val) rs1582249226
NM_001166108.2(PALLD):c.3254G>C (p.Cys1085Ser) rs771679229
NM_001166108.2(PALLD):c.3277A>G (p.Lys1093Glu) rs1553984987
NM_001166108.2(PALLD):c.3283G>C (p.Asp1095His)
NM_001166108.2(PALLD):c.3301G>A (p.Val1101Met) rs368806050
NM_001166108.2(PALLD):c.3322G>A (p.Gly1108Arg)
NM_001166108.2(PALLD):c.3326T>C (p.Ile1109Thr)
NM_001166108.2(PALLD):c.3335G>C (p.Cys1112Ser) rs754236496
NM_001166108.2(PALLD):c.3338C>T (p.Thr1113Ile)
NM_001166108.2(PALLD):c.3344G>A (p.Arg1115Lys)
NM_001166108.2(PALLD):c.3349G>A (p.Asp1117Asn) rs1389221540
NM_001166110.1(PALLD):c.640-?_960+?del
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.134C>G (p.Pro45Arg)
NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp) rs1379675813
NM_001379610.1(SPINK1):c.155A>G (p.Asn52Ser)
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.188A>G (p.Glu63Gly) rs1223176202
NM_001379610.1(SPINK1):c.194+5G>A
NM_001379610.1(SPINK1):c.215T>C (p.Leu72Pro) rs749558779
NM_001379610.1(SPINK1):c.220C>A (p.Gln74Lys)
NM_001379610.1(SPINK1):c.29G>A (p.Ser10Asn)
NM_001379610.1(SPINK1):c.30T>G (p.Ser10Arg)
NM_001379610.1(SPINK1):c.41T>G (p.Leu14Arg) rs104893939
NM_001379610.1(SPINK1):c.55+5G>A rs879076423
NM_001379610.1(SPINK1):c.56G>C (p.Gly19Ala)
NM_001379610.1(SPINK1):c.56G>T (p.Gly19Val) rs1411503462
NM_001379610.1(SPINK1):c.68C>T (p.Ala23Val)
NM_001379610.1(SPINK1):c.71A>C (p.Asp24Ala)
NM_001379610.1(SPINK1):c.83G>A (p.Arg28Lys)
NM_001379610.1(SPINK1):c.87+6G>C rs1554089890
NM_001379610.1(SPINK1):c.93_101del (p.Lys31_Tyr33del) rs767903021
NM_001626.6(AKT2):c.1039C>T (p.Arg347Cys)
NM_001626.6(AKT2):c.1040G>A (p.Arg347His)
NM_001626.6(AKT2):c.1090A>G (p.Met364Val)
NM_001626.6(AKT2):c.1103G>A (p.Arg368His)
NM_001626.6(AKT2):c.1195G>A (p.Asp399Asn)
NM_001626.6(AKT2):c.1237A>C (p.Asn413His)
NM_001626.6(AKT2):c.1286A>G (p.Gln429Arg) rs1399189737
NM_001626.6(AKT2):c.136G>A (p.Asp46Asn) rs1975583524
NM_001626.6(AKT2):c.208C>G (p.Pro70Ala) rs1170693725
NM_001626.6(AKT2):c.282C>G (p.Asp94Glu) rs139125633
NM_001626.6(AKT2):c.283G>A (p.Glu95Lys)
NM_001626.6(AKT2):c.301C>T (p.Arg101Trp)
NM_001626.6(AKT2):c.380C>T (p.Pro127Leu)
NM_001626.6(AKT2):c.401A>C (p.Glu134Ala)
NM_001626.6(AKT2):c.438A>G (p.Lys146=)
NM_001626.6(AKT2):c.44G>A (p.Arg15His) rs1976263420
NM_001626.6(AKT2):c.527G>T (p.Arg176Leu)
NM_001626.6(AKT2):c.572A>G (p.Lys191Arg)
NM_001626.6(AKT2):c.576T>G (p.Asp192Glu)
NM_001626.6(AKT2):c.641C>T (p.Ala214Val)
NM_001626.6(AKT2):c.671G>A (p.Arg224His)
NM_001626.6(AKT2):c.671G>T (p.Arg224Leu)
NM_001626.6(AKT2):c.709-3C>G
NM_001626.6(AKT2):c.709-3C>T
NM_001626.6(AKT2):c.758G>A (p.Arg253Gln)
NM_001626.6(AKT2):c.871A>G (p.Ile291Val)
NM_001626.6(AKT2):c.960+3G>T rs56165898
NM_001626.6(AKT2):c.961-2dup
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.167A>G (p.Gln56Arg)
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.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.200C>A (p.Ser67Tyr)
NM_002769.5(PRSS1):c.201-1G>A rs2116976495
NM_002769.5(PRSS1):c.201-7C>A
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.217C>A (p.Leu73Met)
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.313A>G (p.Asn105Asp)
NM_002769.5(PRSS1):c.318T>G (p.Asn106Lys)
NM_002769.5(PRSS1):c.325A>C (p.Met109Leu)
NM_002769.5(PRSS1):c.336G>C (p.Lys112Asn)
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.388A>G (p.Thr130Ala)
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.409A>C (p.Thr137Pro)
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.442G>A (p.Ala148Thr)
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.563T>A (p.Phe188Tyr)
NM_002769.5(PRSS1):c.564C>G (p.Phe188Leu) rs1250731677
NM_002769.5(PRSS1):c.565C>T (p.Leu189Phe)
NM_002769.5(PRSS1):c.58G>A (p.Asp20Asn) rs774895653
NM_002769.5(PRSS1):c.592-1G>C
NM_002769.5(PRSS1):c.595G>A (p.Asp199Asn)
NM_002769.5(PRSS1):c.5A>G (p.Asn2Ser)
NM_002769.5(PRSS1):c.601G>C (p.Gly201Arg)
NM_002769.5(PRSS1):c.602G>T (p.Gly201Val)
NM_002769.5(PRSS1):c.610G>A (p.Val204Met) rs1563263032
NM_002769.5(PRSS1):c.613G>A (p.Val205Ile)
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.710A>T (p.Lys237Ile)
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_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Leu359_Gly360insGluSerIleLeu) rs1845910499
NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)
NM_005271.5(GLUD1):c.1096C>T (p.Pro366Ser)
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val) rs1589358775
NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)
NM_005271.5(GLUD1):c.1197+5C>A
NM_005271.5(GLUD1):c.1198-11CT[2] rs753448342
NM_005271.5(GLUD1):c.1198-6T>C rs1415334667
NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)
NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile) rs2133794123
NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu) rs1169592069
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu) rs2133788907
NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu) rs2133788865
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser) rs121909733
NM_005271.5(GLUD1):c.1558-5T>A
NM_005271.5(GLUD1):c.1567C>T (p.Arg523Cys)
NM_005271.5(GLUD1):c.1568G>T (p.Arg523Leu)
NM_005271.5(GLUD1):c.1628T>C (p.Ile543Thr)
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala) rs2133773089
NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)
NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)
NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)
NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)
NM_005271.5(GLUD1):c.287A>G (p.Glu96Gly)
NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)
NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)
NM_005271.5(GLUD1):c.398A>G (p.Glu133Gly)
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile) rs1294286511
NM_005271.5(GLUD1):c.415C>T (p.His139Tyr) rs2133873984
NM_005271.5(GLUD1):c.455dup (p.Tyr152Ter)
NM_005271.5(GLUD1):c.49G>A (p.Ala17Thr)
NM_005271.5(GLUD1):c.500TGA[1] (p.Met168del)
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)
NM_005271.5(GLUD1):c.778A>G (p.Ile260Val)
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
NM_005271.5(GLUD1):c.806T>C (p.Ile269Thr)
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys) rs121909736
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr) rs121909736
NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)
NM_005271.5(GLUD1):c.962A>G (p.His321Arg)
NM_005327.7(HADH):c.100G>A (p.Gly34Ser) rs779135938
NM_005327.7(HADH):c.106G>C (p.Gly36Arg) rs994692222
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
NM_005327.7(HADH):c.220C>T (p.Leu74Phe) rs1735422340
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del) rs763318550
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
NM_005327.7(HADH):c.380A>G (p.Lys127Arg) rs1735626197
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
NM_005327.7(HADH):c.422A>G (p.His141Arg)
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
NM_005327.7(HADH):c.590T>G (p.Leu197Trp)
NM_005327.7(HADH):c.643C>T (p.Pro215Ser) rs140413151
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
NM_005327.7(HADH):c.715G>T (p.Ala239Ser) rs746680125
NM_005327.7(HADH):c.725A>G (p.Glu242Gly) rs1736337186
NM_005327.7(HADH):c.740C>T (p.Ala247Val) rs1736337431
NM_005327.7(HADH):c.796G>A (p.Gly266Arg)
NM_005327.7(HADH):c.805A>G (p.Thr269Ala) rs1736341112
NM_005327.7(HADH):c.806C>G (p.Thr269Ser) rs754403207
NM_005327.7(HADH):c.806C>T (p.Thr269Ile)
NM_005327.7(HADH):c.825T>C (p.Asp275=)
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
NM_005327.7(HADH):c.8T>C (p.Phe3Ser) rs2126215379
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)
NM_007272.3(CTRC):c.106G>T (p.Ala36Ser)
NM_007272.3(CTRC):c.11T>C (p.Ile4Thr)
NM_007272.3(CTRC):c.121T>A (p.Trp41Arg)
NM_007272.3(CTRC):c.130del (p.Gln44fs) rs1344551908
NM_007272.3(CTRC):c.145T>C (p.Tyr49His) rs78247007
NM_007272.3(CTRC):c.148C>T (p.Leu50Phe)
NM_007272.3(CTRC):c.173C>T (p.Thr58Met)
NM_007272.3(CTRC):c.176G>C (p.Cys59Ser)
NM_007272.3(CTRC):c.194C>T (p.Ala65Val) rs2103289502
NM_007272.3(CTRC):c.19C>T (p.Leu7Phe)
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.231_232insG (p.Asn78fs)
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>A (p.Arg83Ser)
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>G (p.Asn90Lys)
NM_007272.3(CTRC):c.271C>A (p.Leu91Met) rs1407562830
NM_007272.3(CTRC):c.272_273dup (p.Glu92fs)
NM_007272.3(CTRC):c.277G>C (p.Val93Leu)
NM_007272.3(CTRC):c.295T>A (p.Ser99Thr)
NM_007272.3(CTRC):c.308del (p.Gly103fs) rs773119534
NM_007272.3(CTRC):c.316A>G (p.Thr106Ala)
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.40+6C>T
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.422G>A (p.Cys141Tyr)
NM_007272.3(CTRC):c.437del (p.Asp146fs)
NM_007272.3(CTRC):c.442C>G (p.Leu148Val)
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.586G>A (p.Val196Met)
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.602T>A (p.Val201Glu)
NM_007272.3(CTRC):c.602T>C (p.Val201Ala)
NM_007272.3(CTRC):c.614G>A (p.Gly205Asp)
NM_007272.3(CTRC):c.614G>T (p.Gly205Val)
NM_007272.3(CTRC):c.622G>A (p.Val208Ile)
NM_007272.3(CTRC):c.625A>G (p.Ile209Val)
NM_007272.3(CTRC):c.625A>T (p.Ile209Phe)
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.683C>A (p.Ser228Tyr)
NM_007272.3(CTRC):c.691G>T (p.Val231Leu)
NM_007272.3(CTRC):c.716C>G (p.Ser239Cys)
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.774C>G (p.Tyr258Ter)
NM_007272.3(CTRC):c.778G>A (p.Asp260Asn)
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.789C>G (p.Asn263Lys)
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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