ClinVar Miner

List of variants in gene C2CD3 reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 290
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HGVS dbSNP gnomAD frequency
NM_001286577.2(C2CD3):c.3742C>T (p.Arg1248Cys) rs139665472 0.00025
NM_001286577.2(C2CD3):c.1259C>T (p.Ser420Phe) rs147709320 0.00024
NM_001286577.2(C2CD3):c.265A>G (p.Arg89Gly) rs141212532 0.00022
NM_001286577.2(C2CD3):c.421C>G (p.His141Asp) rs150433820 0.00020
NM_001286577.2(C2CD3):c.5506A>G (p.Thr1836Ala) rs139827923 0.00018
NM_001286577.2(C2CD3):c.3641A>G (p.Lys1214Arg) rs533372301 0.00017
NM_001286577.2(C2CD3):c.4568T>C (p.Leu1523Pro) rs764966083 0.00017
NM_001286577.2(C2CD3):c.1862G>A (p.Arg621Gln) rs374842274 0.00012
NM_001286577.2(C2CD3):c.5203C>G (p.Leu1735Val) rs754010522 0.00012
NM_001286577.2(C2CD3):c.112C>T (p.Arg38Cys) rs764051582 0.00011
NM_001286577.2(C2CD3):c.5882-332A>G rs200146492 0.00011
NM_001286577.2(C2CD3):c.1830A>C (p.Lys610Asn) rs374899528 0.00010
NM_001286577.2(C2CD3):c.3961G>A (p.Val1321Ile) rs199813738 0.00010
NM_001286577.2(C2CD3):c.503C>T (p.Pro168Leu) rs775805153 0.00010
NM_001286577.2(C2CD3):c.5495+4A>G rs375920052 0.00010
NM_001286577.2(C2CD3):c.1344G>T (p.Glu448Asp) rs201378099 0.00009
NM_001286577.2(C2CD3):c.1349T>C (p.Leu450Ser) rs147117792 0.00009
NM_001286577.2(C2CD3):c.1615C>T (p.His539Tyr) rs772943189 0.00009
NM_001286577.2(C2CD3):c.208T>G (p.Ser70Ala) rs145021728 0.00009
NM_001286577.2(C2CD3):c.3223A>C (p.Ser1075Arg) rs764477521 0.00009
NM_001286577.2(C2CD3):c.325+5G>A rs201756732 0.00009
NM_001286577.2(C2CD3):c.4499A>G (p.Asn1500Ser) rs113074900 0.00008
NM_001286577.2(C2CD3):c.1814G>A (p.Arg605Gln) rs143218843 0.00007
NM_001286577.2(C2CD3):c.3509A>G (p.Gln1170Arg) rs768518035 0.00007
NM_001286577.2(C2CD3):c.1973T>C (p.Ile658Thr) rs111351931 0.00006
NM_001286577.2(C2CD3):c.3026A>G (p.His1009Arg) rs572627915 0.00006
NM_001286577.2(C2CD3):c.3361G>A (p.Val1121Met) rs148338171 0.00006
NM_001286577.2(C2CD3):c.5014G>A (p.Asp1672Asn) rs139653763 0.00006
NM_001286577.2(C2CD3):c.6332C>G (p.Ser2111Cys) rs780147528 0.00006
NM_001286577.2(C2CD3):c.2621T>C (p.Leu874Pro) rs1036887650 0.00005
NM_001286577.2(C2CD3):c.3345A>G (p.Arg1115=) rs141518273 0.00005
NM_001286577.2(C2CD3):c.3424A>G (p.Thr1142Ala) rs746953208 0.00005
NM_001286577.2(C2CD3):c.4637A>G (p.Asn1546Ser) rs200851757 0.00005
NM_001286577.2(C2CD3):c.4901C>T (p.Thr1634Met) rs559034596 0.00005
NM_001286577.2(C2CD3):c.5929C>T (p.Arg1977Ter) rs748668786 0.00005
NM_001286577.2(C2CD3):c.2339C>T (p.Thr780Ile) rs763001401 0.00004
NM_001286577.2(C2CD3):c.2375A>G (p.Asn792Ser) rs369089792 0.00004
NM_001286577.2(C2CD3):c.4643C>T (p.Ser1548Leu) rs770247152 0.00004
NM_001286577.2(C2CD3):c.6655G>A (p.Gly2219Ser) rs746070169 0.00004
NM_001286577.2(C2CD3):c.8A>C (p.Gln3Pro) rs370689810 0.00004
NM_001286577.2(C2CD3):c.983G>A (p.Arg328His) rs759547604 0.00004
NM_001286577.2(C2CD3):c.1315G>A (p.Asp439Asn) rs200812791 0.00003
NM_001286577.2(C2CD3):c.1342G>C (p.Glu448Gln) rs755981597 0.00003
NM_001286577.2(C2CD3):c.1529T>C (p.Val510Ala) rs374144478 0.00003
NM_001286577.2(C2CD3):c.1543C>G (p.Leu515Val) rs370684410 0.00003
NM_001286577.2(C2CD3):c.2085+5G>A rs773882554 0.00003
NM_001286577.2(C2CD3):c.2351C>T (p.Thr784Met) rs776326633 0.00003
NM_001286577.2(C2CD3):c.2448T>G (p.Asp816Glu) rs140093956 0.00003
NM_001286577.2(C2CD3):c.2452A>G (p.Ile818Val) rs778751243 0.00003
NM_001286577.2(C2CD3):c.2750G>A (p.Arg917His) rs765019392 0.00003
NM_001286577.2(C2CD3):c.2843G>A (p.Arg948Gln) rs768909968 0.00003
NM_001286577.2(C2CD3):c.3258G>C (p.Glu1086Asp) rs1437827235 0.00003
NM_001286577.2(C2CD3):c.3342C>T (p.Cys1114=) rs147520824 0.00003
NM_001286577.2(C2CD3):c.3415A>G (p.Met1139Val) rs753713943 0.00003
NM_001286577.2(C2CD3):c.4589C>T (p.Thr1530Met) rs145271806 0.00003
NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln) rs542660333 0.00003
NM_001286577.2(C2CD3):c.4951+6C>T rs767978670 0.00003
NM_001286577.2(C2CD3):c.5555G>A (p.Arg1852Gln) rs181373128 0.00003
NM_001286577.2(C2CD3):c.5906C>T (p.Ser1969Leu) rs1468115926 0.00003
NM_001286577.2(C2CD3):c.6358A>G (p.Arg2120Gly) rs966963125 0.00003
NM_001286577.2(C2CD3):c.6526C>G (p.Pro2176Ala) rs907375143 0.00003
NM_001286577.2(C2CD3):c.6535A>G (p.Thr2179Ala) rs762200604 0.00003
NM_001286577.2(C2CD3):c.6564G>A (p.Thr2188=) rs569409956 0.00003
NM_001286577.2(C2CD3):c.6719A>G (p.Asn2240Ser) rs975967216 0.00003
NM_001286577.2(C2CD3):c.686G>T (p.Ser229Ile) rs781516719 0.00003
NM_001286577.2(C2CD3):c.1808T>C (p.Val603Ala) rs766499226 0.00002
NM_001286577.2(C2CD3):c.2465C>A (p.Ser822Tyr) rs1235091167 0.00002
NM_001286577.2(C2CD3):c.2636T>A (p.Met879Lys) rs765863409 0.00002
NM_001286577.2(C2CD3):c.2707C>T (p.Leu903Phe) rs1271887670 0.00002
NM_001286577.2(C2CD3):c.283G>A (p.Ala95Thr) rs756745599 0.00002
NM_001286577.2(C2CD3):c.3916G>A (p.Asp1306Asn) rs755284572 0.00002
NM_001286577.2(C2CD3):c.3970C>G (p.Pro1324Ala) rs370274241 0.00002
NM_001286577.2(C2CD3):c.4276C>T (p.His1426Tyr) rs1316867457 0.00002
NM_001286577.2(C2CD3):c.4600A>G (p.Ser1534Gly) rs139881411 0.00002
NM_001286577.2(C2CD3):c.5904T>G (p.Asp1968Glu) rs773654473 0.00002
NM_001286577.2(C2CD3):c.5930G>A (p.Arg1977Gln) rs775042648 0.00002
NM_001286577.2(C2CD3):c.5980A>G (p.Thr1994Ala) rs1310852348 0.00002
NM_001286577.2(C2CD3):c.6512A>C (p.Asn2171Thr) rs1365583390 0.00002
NM_001286577.2(C2CD3):c.6646A>C (p.Ser2216Arg) rs1199108847 0.00002
NM_001286577.2(C2CD3):c.731C>T (p.Ala244Val) rs566199606 0.00002
NM_001286577.2(C2CD3):c.101A>C (p.Glu34Ala) rs2496711811 0.00001
NM_001286577.2(C2CD3):c.1127T>C (p.Ile376Thr) rs762131748 0.00001
NM_001286577.2(C2CD3):c.1197_1199dup (p.Ile400_Gln401insIle) rs1263269285 0.00001
NM_001286577.2(C2CD3):c.1375A>G (p.Thr459Ala) rs141826355 0.00001
NM_001286577.2(C2CD3):c.1394T>G (p.Leu465Arg) rs764866687 0.00001
NM_001286577.2(C2CD3):c.1538A>G (p.Gln513Arg) rs1418216331 0.00001
NM_001286577.2(C2CD3):c.1577C>T (p.Thr526Ile) rs375030806 0.00001
NM_001286577.2(C2CD3):c.163C>T (p.Pro55Ser) rs761301135 0.00001
NM_001286577.2(C2CD3):c.1643T>C (p.Met548Thr) rs200786233 0.00001
NM_001286577.2(C2CD3):c.1691A>G (p.Tyr564Cys) rs1236911583 0.00001
NM_001286577.2(C2CD3):c.1731-3T>C rs762728911 0.00001
NM_001286577.2(C2CD3):c.1825A>G (p.Ser609Gly) rs1201510064 0.00001
NM_001286577.2(C2CD3):c.2068C>G (p.Pro690Ala) rs1000605555 0.00001
NM_001286577.2(C2CD3):c.2074G>T (p.Gly692Cys) rs1388599958 0.00001
NM_001286577.2(C2CD3):c.2085+3A>G rs761194875 0.00001
NM_001286577.2(C2CD3):c.2363A>G (p.His788Arg) rs372902550 0.00001
NM_001286577.2(C2CD3):c.2428A>G (p.Met810Val) rs1053015048 0.00001
NM_001286577.2(C2CD3):c.2514C>A (p.Ser838Arg) rs749379470 0.00001
NM_001286577.2(C2CD3):c.258A>C (p.Lys86Asn) rs547911655 0.00001
NM_001286577.2(C2CD3):c.2662C>T (p.Arg888Trp) rs759392938 0.00001
NM_001286577.2(C2CD3):c.2689G>A (p.Gly897Arg) rs771221676 0.00001
NM_001286577.2(C2CD3):c.269C>G (p.Thr90Arg) rs749067754 0.00001
NM_001286577.2(C2CD3):c.2704C>A (p.Pro902Thr) rs990276989 0.00001
NM_001286577.2(C2CD3):c.2705C>A (p.Pro902His) rs747237481 0.00001
NM_001286577.2(C2CD3):c.2724G>A (p.Met908Ile) rs1310309493 0.00001
NM_001286577.2(C2CD3):c.2747C>A (p.Ser916Tyr) rs767041191 0.00001
NM_001286577.2(C2CD3):c.2836A>G (p.Ser946Gly) rs1956179325 0.00001
NM_001286577.2(C2CD3):c.2861G>C (p.Gly954Ala) rs926344902 0.00001
NM_001286577.2(C2CD3):c.3028A>G (p.Ile1010Val) rs201022343 0.00001
NM_001286577.2(C2CD3):c.3259G>T (p.Val1087Phe) rs773620547 0.00001
NM_001286577.2(C2CD3):c.3379G>A (p.Ala1127Thr) rs200638603 0.00001
NM_001286577.2(C2CD3):c.3506A>G (p.Asn1169Ser) rs773972982 0.00001
NM_001286577.2(C2CD3):c.3550A>C (p.Ser1184Arg) rs1230173012 0.00001
NM_001286577.2(C2CD3):c.3605A>G (p.Gln1202Arg) rs377120452 0.00001
NM_001286577.2(C2CD3):c.3620G>A (p.Cys1207Tyr) rs1955862520 0.00001
NM_001286577.2(C2CD3):c.3743G>A (p.Arg1248His) rs750302216 0.00001
NM_001286577.2(C2CD3):c.3873A>C (p.Glu1291Asp) rs1392348694 0.00001
NM_001286577.2(C2CD3):c.395A>G (p.Asn132Ser) rs776545230 0.00001
NM_001286577.2(C2CD3):c.4009G>A (p.Gly1337Arg) rs767852213 0.00001
NM_001286577.2(C2CD3):c.4016A>G (p.Tyr1339Cys) rs1184333480 0.00001
NM_001286577.2(C2CD3):c.4078G>A (p.Val1360Met) rs752075218 0.00001
NM_001286577.2(C2CD3):c.4313G>A (p.Arg1438His) rs774090141 0.00001
NM_001286577.2(C2CD3):c.464A>G (p.Lys155Arg) rs111283673 0.00001
NM_001286577.2(C2CD3):c.4678T>C (p.Ser1560Pro) rs780023065 0.00001
NM_001286577.2(C2CD3):c.4679C>G (p.Ser1560Cys) rs756063516 0.00001
NM_001286577.2(C2CD3):c.4721T>C (p.Met1574Thr) rs1954942376 0.00001
NM_001286577.2(C2CD3):c.4738A>G (p.Ser1580Gly) rs906240521 0.00001
NM_001286577.2(C2CD3):c.4829C>G (p.Thr1610Ser) rs576006031 0.00001
NM_001286577.2(C2CD3):c.4871C>T (p.Thr1624Met) rs774712341 0.00001
NM_001286577.2(C2CD3):c.4933A>G (p.Met1645Val) rs984349444 0.00001
NM_001286577.2(C2CD3):c.5104C>G (p.Leu1702Val) rs1408523651 0.00001
NM_001286577.2(C2CD3):c.5143T>C (p.Trp1715Arg) rs745530467 0.00001
NM_001286577.2(C2CD3):c.5156A>T (p.Asp1719Val) rs776408638 0.00001
NM_001286577.2(C2CD3):c.523A>G (p.Ser175Gly) rs768231788 0.00001
NM_001286577.2(C2CD3):c.530A>G (p.His177Arg) rs779761794 0.00001
NM_001286577.2(C2CD3):c.5329G>A (p.Ala1777Thr) rs370890163 0.00001
NM_001286577.2(C2CD3):c.553A>G (p.Thr185Ala) rs553137509 0.00001
NM_001286577.2(C2CD3):c.5552G>A (p.Arg1851His) rs1347542964 0.00001
NM_001286577.2(C2CD3):c.5554C>T (p.Arg1852Trp) rs774763565 0.00001
NM_001286577.2(C2CD3):c.5923T>A (p.Ser1975Thr) rs772407650 0.00001
NM_001286577.2(C2CD3):c.5998C>T (p.Arg2000Ter) rs990243491 0.00001
NM_001286577.2(C2CD3):c.6001del (p.Cys2001fs) rs1398494529 0.00001
NM_001286577.2(C2CD3):c.6020C>T (p.Pro2007Leu) rs1952627039 0.00001
NM_001286577.2(C2CD3):c.6291C>A (p.Val2097=) rs955784510 0.00001
NM_001286577.2(C2CD3):c.6385T>C (p.Phe2129Leu) rs1048420989 0.00001
NM_001286577.2(C2CD3):c.6389T>C (p.Leu2130Pro) rs1436816333 0.00001
NM_001286577.2(C2CD3):c.642C>A (p.Asp214Glu) rs1957981741 0.00001
NM_001286577.2(C2CD3):c.6445C>G (p.Gln2149Glu) rs1342457603 0.00001
NM_001286577.2(C2CD3):c.6563C>T (p.Thr2188Met) rs975773925 0.00001
NM_001286577.2(C2CD3):c.670G>A (p.Glu224Lys) rs913159343 0.00001
NM_001286577.2(C2CD3):c.6786G>A (p.Thr2262=) rs866076262 0.00001
NM_001286577.2(C2CD3):c.6798G>C (p.Gln2266His) rs1254317820 0.00001
NM_001286577.2(C2CD3):c.6807G>T (p.Leu2269=) rs947208973 0.00001
NM_001286577.2(C2CD3):c.6815G>T (p.Gly2272Val) rs1056578921 0.00001
NM_001286577.2(C2CD3):c.6931G>A (p.Glu2311Lys) rs768947405 0.00001
NM_001286577.2(C2CD3):c.77C>T (p.Ser26Phe) rs1367907014 0.00001
NC_000011.9:g.(?_73745643)_(73881837_?)dup
NM_001286577.2(C2CD3):c.1010A>G (p.Lys337Arg) rs2135537518
NM_001286577.2(C2CD3):c.1018C>T (p.Pro340Ser) rs2496579603
NM_001286577.2(C2CD3):c.1072C>T (p.Leu358Phe)
NM_001286577.2(C2CD3):c.1089-10C>G rs2496577356
NM_001286577.2(C2CD3):c.1092C>G (p.Ile364Met) rs746593780
NM_001286577.2(C2CD3):c.1158T>A (p.Asn386Lys) rs2496577023
NM_001286577.2(C2CD3):c.1337T>C (p.Leu446Pro) rs766239750
NM_001286577.2(C2CD3):c.1390T>C (p.Phe464Leu) rs2496516158
NM_001286577.2(C2CD3):c.1404G>T (p.Glu468Asp) rs2496516105
NM_001286577.2(C2CD3):c.1528G>A (p.Val510Ile) rs1334794713
NM_001286577.2(C2CD3):c.1533ACA[1] (p.Gln513del) rs767287310
NM_001286577.2(C2CD3):c.158C>A (p.Ala53Glu) rs2135578312
NM_001286577.2(C2CD3):c.1616A>C (p.His539Pro) rs748536133
NM_001286577.2(C2CD3):c.1655_1656inv (p.Pro552Leu)
NM_001286577.2(C2CD3):c.1730+5G>A rs745456767
NM_001286577.2(C2CD3):c.1732A>T (p.Thr578Ser) rs200249364
NM_001286577.2(C2CD3):c.1819G>A (p.Ala607Thr) rs775190326
NM_001286577.2(C2CD3):c.181G>C (p.Val61Leu) rs1856947628
NM_001286577.2(C2CD3):c.1844-14G>A rs1565303932
NM_001286577.2(C2CD3):c.1851G>T (p.Lys617Asn)
NM_001286577.2(C2CD3):c.1880A>G (p.Gln627Arg) rs2496471331
NM_001286577.2(C2CD3):c.2034T>G (p.Asp678Glu)
NM_001286577.2(C2CD3):c.205A>G (p.Thr69Ala) rs2496711225
NM_001286577.2(C2CD3):c.2110A>G (p.Asn704Asp) rs2496450209
NM_001286577.2(C2CD3):c.2143A>G (p.Ser715Gly) rs2496450030
NM_001286577.2(C2CD3):c.2214A>C (p.Gln738His) rs2496449546
NM_001286577.2(C2CD3):c.2302C>G (p.Arg768Gly) rs758969612
NM_001286577.2(C2CD3):c.2359_2360delinsAT (p.Ser787Ile) rs2135496748
NM_001286577.2(C2CD3):c.2483G>T (p.Cys828Phe) rs746652473
NM_001286577.2(C2CD3):c.2677G>A (p.Asp893Asn) rs2135493279
NM_001286577.2(C2CD3):c.2752CTG[2] (p.Leu920del)
NM_001286577.2(C2CD3):c.2755C>G (p.Leu919Val) rs17132707
NM_001286577.2(C2CD3):c.2900A>G (p.Asn967Ser) rs777109415
NM_001286577.2(C2CD3):c.2914C>G (p.Leu972Val) rs1247645589
NM_001286577.2(C2CD3):c.2926A>G (p.Ser976Gly) rs2496429780
NM_001286577.2(C2CD3):c.3050C>T (p.Ala1017Val) rs2135487259
NM_001286577.2(C2CD3):c.3062C>T (p.Ala1021Val) rs570668370
NM_001286577.2(C2CD3):c.3106C>G (p.Pro1036Ala) rs748898911
NM_001286577.2(C2CD3):c.3131T>C (p.Val1044Ala) rs557383222
NM_001286577.2(C2CD3):c.3160+3A>G rs368605500
NM_001286577.2(C2CD3):c.3182G>C (p.Arg1061Thr) rs747425739
NM_001286577.2(C2CD3):c.3209A>C (p.Asp1070Ala)
NM_001286577.2(C2CD3):c.3226G>C (p.Glu1076Gln) rs1956002965
NM_001286577.2(C2CD3):c.330G>A (p.Met110Ile) rs1057523498
NM_001286577.2(C2CD3):c.330G>C (p.Met110Ile) rs1057523498
NM_001286577.2(C2CD3):c.3336C>G (p.Ile1112Met) rs1190257016
NM_001286577.2(C2CD3):c.3344+5A>G rs1955995237
NM_001286577.2(C2CD3):c.3365G>T (p.Arg1122Ile) rs767204368
NM_001286577.2(C2CD3):c.3391T>G (p.Leu1131Val) rs763520995
NM_001286577.2(C2CD3):c.3403A>G (p.Arg1135Gly) rs2135483791
NM_001286577.2(C2CD3):c.3434G>A (p.Arg1145His) rs779085623
NM_001286577.2(C2CD3):c.3548G>A (p.Arg1183His) rs200609720
NM_001286577.2(C2CD3):c.3548G>T (p.Arg1183Leu) rs200609720
NM_001286577.2(C2CD3):c.3562G>A (p.Ala1188Thr) rs1955865348
NM_001286577.2(C2CD3):c.3652G>A (p.Glu1218Lys) rs2496387940
NM_001286577.2(C2CD3):c.3689G>A (p.Gly1230Glu) rs749650151
NM_001286577.2(C2CD3):c.377T>C (p.Ile126Thr) rs199662661
NM_001286577.2(C2CD3):c.378T>G (p.Ile126Met) rs1455775263
NM_001286577.2(C2CD3):c.3911C>T (p.Ala1304Val) rs778996305
NM_001286577.2(C2CD3):c.4001-2del rs2135466135
NM_001286577.2(C2CD3):c.400C>A (p.Leu134Ile) rs1304816416
NM_001286577.2(C2CD3):c.4038C>G (p.Asp1346Glu) rs777632461
NM_001286577.2(C2CD3):c.4039G>T (p.Gly1347Trp) rs758231091
NM_001286577.2(C2CD3):c.4077C>G (p.Ile1359Met) rs762177409
NM_001286577.2(C2CD3):c.4112A>T (p.His1371Leu) rs1955182487
NM_001286577.2(C2CD3):c.4123A>G (p.Arg1375Gly) rs2496362212
NM_001286577.2(C2CD3):c.4144G>C (p.Ala1382Pro) rs763561048
NM_001286577.2(C2CD3):c.4213G>A (p.Ala1405Thr) rs2496361864
NM_001286577.2(C2CD3):c.4263GCT[3] (p.Leu1423_Ala1424insLeu) rs1239289498
NM_001286577.2(C2CD3):c.4365G>T (p.Lys1455Asn) rs746683707
NM_001286577.2(C2CD3):c.4374_4394del (p.Asn1459_Val1465del) rs761331220
NM_001286577.2(C2CD3):c.4397C>T (p.Thr1466Ile)
NM_001286577.2(C2CD3):c.441T>A (p.Phe147Leu)
NM_001286577.2(C2CD3):c.4550A>G (p.Tyr1517Cys) rs1048880011
NM_001286577.2(C2CD3):c.4718C>G (p.Ser1573Cys) rs142361614
NM_001286577.2(C2CD3):c.4720A>G (p.Met1574Val) rs749292854
NM_001286577.2(C2CD3):c.4744T>A (p.Ser1582Thr) rs1425333901
NM_001286577.2(C2CD3):c.4832A>G (p.Gln1611Arg) rs1406236021
NM_001286577.2(C2CD3):c.4860A>C (p.Glu1620Asp) rs1198702891
NM_001286577.2(C2CD3):c.4897G>A (p.Gly1633Arg)
NM_001286577.2(C2CD3):c.4928G>A (p.Arg1643Lys) rs2496344745
NM_001286577.2(C2CD3):c.4955G>A (p.Ser1652Asn) rs1954013275
NM_001286577.2(C2CD3):c.5090G>A (p.Arg1697Lys) rs746177285
NM_001286577.2(C2CD3):c.5102A>G (p.Glu1701Gly) rs2135436222
NM_001286577.2(C2CD3):c.5241C>G (p.Ile1747Met) rs1953565712
NM_001286577.2(C2CD3):c.5361+3A>T
NM_001286577.2(C2CD3):c.5361+4T>C rs762028403
NM_001286577.2(C2CD3):c.5402C>T (p.Thr1801Met) rs370540388
NM_001286577.2(C2CD3):c.5405A>G (p.Tyr1802Cys) rs1285522367
NM_001286577.2(C2CD3):c.5413T>G (p.Phe1805Val) rs2496253546
NM_001286577.2(C2CD3):c.5425A>G (p.Met1809Val) rs1225013280
NM_001286577.2(C2CD3):c.5457T>G (p.His1819Gln) rs1953484566
NM_001286577.2(C2CD3):c.5462C>T (p.Ser1821Phe) rs886580617
NM_001286577.2(C2CD3):c.5496A>T (p.Arg1832Ser)
NM_001286577.2(C2CD3):c.5507C>G (p.Thr1836Arg) rs2135422143
NM_001286577.2(C2CD3):c.5516A>G (p.Gln1839Arg) rs1396731358
NM_001286577.2(C2CD3):c.5551C>T (p.Arg1851Cys) rs1232565234
NM_001286577.2(C2CD3):c.5566T>C (p.Ser1856Pro) rs1953094328
NM_001286577.2(C2CD3):c.5605G>A (p.Asp1869Asn) rs1953090734
NM_001286577.2(C2CD3):c.5903A>T (p.Asp1968Val) rs981438992
NM_001286577.2(C2CD3):c.5994A>G (p.Gln1998=) rs2496202845
NM_001286577.2(C2CD3):c.6067C>G (p.Pro2023Ala) rs2135413179
NM_001286577.2(C2CD3):c.6092G>A (p.Gly2031Glu) rs2496202442
NM_001286577.2(C2CD3):c.6128C>T (p.Pro2043Leu) rs1346783084
NM_001286577.2(C2CD3):c.6139A>G (p.Met2047Val) rs2135413138
NM_001286577.2(C2CD3):c.6156C>T (p.Asp2052=) rs2496202199
NM_001286577.2(C2CD3):c.6206T>A (p.Ile2069Asn) rs1396704756
NM_001286577.2(C2CD3):c.6233C>T (p.Thr2078Ile) rs2496201913
NM_001286577.2(C2CD3):c.6267T>A (p.Ser2089Arg) rs2496201819
NM_001286577.2(C2CD3):c.6320G>A (p.Arg2107Lys) rs2496201696
NM_001286577.2(C2CD3):c.6340T>C (p.Ser2114Pro) rs2496201623
NM_001286577.2(C2CD3):c.6406G>A (p.Ala2136Thr) rs2496201474
NM_001286577.2(C2CD3):c.6434G>A (p.Gly2145Asp) rs541932402
NM_001286577.2(C2CD3):c.6454G>A (p.Val2152Ile) rs1255004843
NM_001286577.2(C2CD3):c.6455T>C (p.Val2152Ala) rs2496201323
NM_001286577.2(C2CD3):c.6472G>T (p.Ala2158Ser) rs2496201256
NM_001286577.2(C2CD3):c.6509C>T (p.Ala2170Val) rs979984361
NM_001286577.2(C2CD3):c.6515C>T (p.Pro2172Leu) rs2496201079
NM_001286577.2(C2CD3):c.653T>C (p.Ile218Thr) rs2496601228
NM_001286577.2(C2CD3):c.6572G>A (p.Gly2191Glu) rs140242195
NM_001286577.2(C2CD3):c.6573A>T (p.Gly2191=) rs1054491022
NM_001286577.2(C2CD3):c.6590C>T (p.Thr2197Ile) rs2135412756
NM_001286577.2(C2CD3):c.6632A>G (p.Asn2211Ser) rs2496200660
NM_001286577.2(C2CD3):c.6668A>G (p.Asp2223Gly) rs1367667186
NM_001286577.2(C2CD3):c.6827T>C (p.Val2276Ala) rs760617771
NM_001286577.2(C2CD3):c.6920A>C (p.Gln2307Pro) rs913920515
NM_001286577.2(C2CD3):c.6951C>T (p.Leu2317=) rs2496145464
NM_001286577.2(C2CD3):c.6991C>T (p.Leu2331Phe) rs534735031
NM_001286577.2(C2CD3):c.707G>A (p.Arg236Lys) rs1957978556
NM_001286577.2(C2CD3):c.709G>A (p.Gly237Arg) rs1263201153
NM_001286577.2(C2CD3):c.86T>C (p.Leu29Pro) rs1373866300
NM_001286577.2(C2CD3):c.982C>G (p.Arg328Gly) rs769847567
NM_001286577.2(C2CD3):c.982C>T (p.Arg328Cys) rs769847567

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