ClinVar Miner

List of variants studied for Joubert syndrome 17

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1027
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_015631.6(TCTN3):c.1204-43T>C rs17461546 0.27142
NM_015631.6(TCTN3):c.1453-28A>G rs12784530 0.21461
NM_015631.6(TCTN3):c.500-11A>T rs11188434 0.18618
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17594
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577 0.10199
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652 0.04935
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=) rs73750958 0.03087
NM_001384732.1(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949 0.02942
NM_001384732.1(CPLANE1):c.94G>A (p.Val32Ile) rs73750959 0.02866
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147 0.02316
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg) rs7702892 0.02310
NM_001384732.1(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518 0.02308
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758 0.02238
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_001384732.1(CPLANE1):c.*889A>G rs75549748 0.01830
NM_001384732.1(CPLANE1):c.5900+7G>T rs78315844 0.01816
NM_001384732.1(CPLANE1):c.*641C>T rs116744214 0.01809
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173 0.01809
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186 0.01627
NM_001384732.1(CPLANE1):c.3795T>A (p.Val1265=) rs74478954 0.01626
NM_001384732.1(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632 0.01487
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=) rs61745362 0.01450
NM_001384732.1(CPLANE1):c.1737G>A (p.Ala579=) rs13356183 0.01427
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130 0.01420
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_001384732.1(CPLANE1):c.8664-3A>T rs58401892 0.01389
NM_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950 0.01291
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00645
NM_001384732.1(CPLANE1):c.*396T>C rs115541718 0.00638
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735 0.00627
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_001384732.1(CPLANE1):c.*807A>G rs78011227 0.00418
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_001384732.1(CPLANE1):c.4719C>T (p.Asp1573=) rs143084362 0.00368
NM_002601.4(PDE6D):c.371+8A>C rs75242814 0.00367
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_023073.3(CPLANE1):c.*1369C>A rs116197379 0.00344
NM_015631.6(TCTN3):c.21G>A (p.Ala7=) rs61737888 0.00320
NM_001384732.1(CPLANE1):c.*518T>C rs556117030 0.00315
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_001384732.1(CPLANE1):c.7234-7C>G rs141575785 0.00285
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn) rs146510084 0.00224
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_001384732.1(CPLANE1):c.9093A>G (p.Ser3031=) rs141014620 0.00190
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=) rs117995360 0.00189
NM_001384732.1(CPLANE1):c.5738-6C>T rs148634159 0.00186
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn) rs142298615 0.00181
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282 0.00175
NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=) rs145215555 0.00174
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=) rs148005445 0.00167
NM_003611.3(OFD1):c.1654+14T>A rs192720874 0.00131
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949 0.00118
NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=) rs186970259 0.00113
NM_001384732.1(CPLANE1):c.8374-15G>A rs74881219 0.00111
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_015631.6(TCTN3):c.1591-5C>T rs181107730 0.00109
NM_001384732.1(CPLANE1):c.*642G>A rs543018376 0.00108
NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly) rs144427399 0.00106
NM_001384732.1(CPLANE1):c.*714T>A rs191724705 0.00105
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326 0.00104
NM_001384732.1(CPLANE1):c.994A>G (p.Met332Val) rs369404481 0.00098
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg) rs144081297 0.00090
NM_001384732.1(CPLANE1):c.-151C>T rs769827950 0.00088
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_002601.4(PDE6D):c.140-3C>T rs368073853 0.00079
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451 0.00076
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys) rs150556877 0.00076
NM_015631.6(TCTN3):c.500-6T>C rs201444392 0.00076
NM_015631.6(TCTN3):c.1764C>T (p.Val588=) rs137856303 0.00071
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) rs144543830 0.00065
NM_015631.6(TCTN3):c.280T>C (p.Leu94=) rs367982164 0.00062
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001384732.1(CPLANE1):c.2855A>G (p.Asn952Ser) rs554483416 0.00057
NM_001384732.1(CPLANE1):c.*18G>T rs200332492 0.00053
NM_001384732.1(CPLANE1):c.4460G>A (p.Ser1487Asn) rs138157520 0.00053
NM_001384732.1(CPLANE1):c.6328A>G (p.Asn2110Asp) rs139528477 0.00053
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579 0.00048
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388 0.00046
NM_001384732.1(CPLANE1):c.7920C>T (p.Ser2640=) rs141486731 0.00045
NM_001384732.1(CPLANE1):c.8580C>T (p.Ala2860=) rs145347771 0.00044
NM_001384732.1(CPLANE1):c.3012T>C (p.Tyr1004=) rs546670307 0.00043
NM_001384732.1(CPLANE1):c.4954C>T (p.Leu1652=) rs141109938 0.00043
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=) rs201122718 0.00042
NM_001384732.1(CPLANE1):c.1116G>A (p.Thr372=) rs551066377 0.00041
NM_001384732.1(CPLANE1):c.6860G>A (p.Ser2287Asn) rs147451628 0.00039
NM_015631.6(TCTN3):c.1567C>T (p.Leu523=) rs150579201 0.00039
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995 0.00036
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly) rs116198390 0.00036
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=) rs137899908 0.00035
NM_002601.4(PDE6D):c.258C>T (p.Cys86=) rs151191604 0.00034
NM_001384732.1(CPLANE1):c.*833T>C rs553022771 0.00031
NM_001384732.1(CPLANE1):c.3150-12A>G rs755478099 0.00031
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024 0.00031
NM_015631.6(TCTN3):c.1317C>T (p.Cys439=) rs34474203 0.00031
NM_001384732.1(CPLANE1):c.7596A>G (p.Leu2532=) rs201502145 0.00029
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_015631.6(TCTN3):c.1403C>T (p.Ala468Val) rs140103426 0.00026
NM_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=) rs141425550 0.00024
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro) rs749447795 0.00024
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782 0.00023
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284 0.00022
NM_001384732.1(CPLANE1):c.9579+7A>G rs369166609 0.00022
NM_015631.6(TCTN3):c.1096-14C>A rs41291568 0.00022
NM_001384732.1(CPLANE1):c.4074C>T (p.Ile1358=) rs145018253 0.00021
NM_001384732.1(CPLANE1):c.5820+8A>G rs181096718 0.00021
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val) rs139496915 0.00019
NM_001384732.1(CPLANE1):c.5651A>C (p.Lys1884Thr) rs373865796 0.00019
NM_001384732.1(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520 0.00019
NM_001384732.1(CPLANE1):c.82-14G>A rs180804052 0.00019
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_001384732.1(CPLANE1):c.3812-5T>G rs375780513 0.00018
NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser) rs183021118 0.00017
NM_015631.6(TCTN3):c.537T>C (p.Asn179=) rs141346992 0.00017
NM_001384732.1(CPLANE1):c.1096C>T (p.Pro366Ser) rs376489487 0.00016
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile) rs202103224 0.00016
NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys) rs888502576 0.00016
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_015631.6(TCTN3):c.821C>G (p.Ala274Gly) rs377047502 0.00015
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540 0.00014
NM_001384732.1(CPLANE1):c.420T>C (p.Leu140=) rs1056117590 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001384732.1(CPLANE1):c.7298T>C (p.Leu2433Pro) rs372655878 0.00014
NM_001384732.1(CPLANE1):c.8908G>A (p.Ala2970Thr) rs369585190 0.00013
NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser) rs149728983 0.00013
NM_001384732.1(CPLANE1):c.1271G>A (p.Arg424Gln) rs369204500 0.00012
NM_001384732.1(CPLANE1):c.1487A>G (p.Glu496Gly) rs938547995 0.00012
NM_001384732.1(CPLANE1):c.338C>A (p.Ala113Glu) rs534807606 0.00012
NM_001384732.1(CPLANE1):c.834+15G>A rs373984590 0.00012
NM_001384732.1(CPLANE1):c.9307C>T (p.His3103Tyr) rs145378102 0.00012
NM_015631.6(TCTN3):c.1575G>A (p.Gln525=) rs768137956 0.00012
NM_015631.6(TCTN3):c.159G>A (p.Ala53=) rs540555381 0.00012
NM_015631.6(TCTN3):c.878A>G (p.Gln293Arg) rs141231095 0.00012
NM_001384732.1(CPLANE1):c.*872A>C rs886060568 0.00011
NM_001384732.1(CPLANE1):c.1645A>G (p.Met549Val) rs563502625 0.00011
NM_001384732.1(CPLANE1):c.1872C>T (p.Ser624=) rs886060582 0.00011
NM_001384732.1(CPLANE1):c.4953A>G (p.Val1651=) rs373122844 0.00011
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00011
NM_015631.6(TCTN3):c.1452+16T>C rs779934498 0.00011
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg) rs373479905 0.00011
NM_001384732.1(CPLANE1):c.*408G>A rs145945346 0.00010
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp) rs189796608 0.00010
NM_001384732.1(CPLANE1):c.3747C>T (p.Ile1249=) rs145484347 0.00010
NM_001384732.1(CPLANE1):c.5195A>G (p.Asp1732Gly) rs756274300 0.00010
NM_001384732.1(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299 0.00010
NM_003611.3(OFD1):c.2928+18A>G rs756838502 0.00010
NM_015631.6(TCTN3):c.1299-11T>C rs532774999 0.00010
NM_015631.6(TCTN3):c.1569A>G (p.Leu523=) rs201367852 0.00010
NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn) rs780308423 0.00010
NM_001384732.1(CPLANE1):c.2446C>G (p.Leu816Val) rs192335673 0.00009
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169 0.00009
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln) rs377742483 0.00009
NM_001384732.1(CPLANE1):c.9700A>T (p.Met3234Leu) rs770395082 0.00009
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser) rs532274932 0.00009
NM_015631.6(TCTN3):c.576C>T (p.Gly192=) rs143020764 0.00009
NM_001384732.1(CPLANE1):c.*813A>G rs187198752 0.00008
NM_001384732.1(CPLANE1):c.3130C>T (p.Arg1044Cys) rs376987361 0.00008
NM_001384732.1(CPLANE1):c.8474C>T (p.Thr2825Ile) rs142316931 0.00008
NM_001384732.1(CPLANE1):c.9031G>A (p.Glu3011Lys) rs200358545 0.00008
NM_001384732.1(CPLANE1):c.9524C>T (p.Thr3175Met) rs587783354 0.00008
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846 0.00008
NM_015631.6(TCTN3):c.1695A>G (p.Lys565=) rs370069674 0.00008
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile) rs201493612 0.00008
NM_015631.6(TCTN3):c.933G>T (p.Leu311=) rs371380545 0.00008
NM_001384732.1(CPLANE1):c.1472A>T (p.Lys491Ile) rs761746624 0.00007
NM_001384732.1(CPLANE1):c.3428G>A (p.Arg1143Lys) rs377503881 0.00007
NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter) rs749421099 0.00007
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985 0.00007
NM_001384732.1(CPLANE1):c.8739C>T (p.Asp2913=) rs376535591 0.00007
NM_001384732.1(CPLANE1):c.9155C>G (p.Ser3052Cys) rs557372169 0.00007
NM_001384732.1(CPLANE1):c.9371C>T (p.Ala3124Val) rs372396805 0.00007
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=) rs184805842 0.00007
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) rs375708075 0.00007
NM_001384732.1(CPLANE1):c.*1318A>G rs145399031 0.00006
NM_001384732.1(CPLANE1):c.1123C>T (p.Pro375Ser) rs774016809 0.00006
NM_001384732.1(CPLANE1):c.1303A>G (p.Met435Val) rs1184764389 0.00006
NM_001384732.1(CPLANE1):c.1371+5A>G rs794727005 0.00006
NM_001384732.1(CPLANE1):c.1680G>A (p.Glu560=) rs749473632 0.00006
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572 0.00006
NM_001384732.1(CPLANE1):c.1969G>A (p.Val657Met) rs529419886 0.00006
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter) rs776886962 0.00006
NM_001384732.1(CPLANE1):c.2831G>A (p.Arg944His) rs863225165 0.00006
NM_001384732.1(CPLANE1):c.3474A>G (p.Pro1158=) rs148286269 0.00006
NM_001384732.1(CPLANE1):c.4355C>T (p.Ser1452Phe) rs138792462 0.00006
NM_001384732.1(CPLANE1):c.5729A>C (p.Asp1910Ala) rs759558910 0.00006
NM_001384732.1(CPLANE1):c.6644A>G (p.His2215Arg) rs556705113 0.00006
NM_001384732.1(CPLANE1):c.7296A>G (p.Lys2432=) rs374320265 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_001384732.1(CPLANE1):c.7940C>T (p.Ser2647Leu) rs202140926 0.00006
NM_001384732.1(CPLANE1):c.7958A>G (p.Tyr2653Cys) rs371374142 0.00006
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His) rs771622959 0.00006
NM_001384732.1(CPLANE1):c.9252G>A (p.Pro3084=) rs371595122 0.00006
NM_001384732.1(CPLANE1):c.938+20T>C rs1391242118 0.00006
NM_001384732.1(CPLANE1):c.93C>T (p.Ala31=) rs200942752 0.00006
NM_002601.4(PDE6D):c.201G>A (p.Ser67=) rs764377846 0.00006
NM_002601.4(PDE6D):c.408C>T (p.Asp136=) rs547505745 0.00006
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661 0.00006
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys) rs772233258 0.00006
NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg) rs151123934 0.00006
NM_015631.6(TCTN3):c.1096-13C>T rs372991715 0.00006
NM_015631.6(TCTN3):c.1680C>T (p.Pro560=) rs761227686 0.00006
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys) rs780304630 0.00006
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile) rs769275482 0.00006
NM_001384732.1(CPLANE1):c.1545C>T (p.Asn515=) rs773819961 0.00005
NM_001384732.1(CPLANE1):c.3100A>G (p.Ile1034Val) rs965483152 0.00005
NM_001384732.1(CPLANE1):c.3897A>G (p.Ala1299=) rs372380629 0.00005
NM_001384732.1(CPLANE1):c.5311T>C (p.Tyr1771His) rs748355456 0.00005
NM_001384732.1(CPLANE1):c.532_534del (p.Lys178del) rs886043021 0.00005
NM_001384732.1(CPLANE1):c.7099A>G (p.Lys2367Glu) rs778278672 0.00005
NM_001384732.1(CPLANE1):c.8197C>T (p.Arg2733Trp) rs142792453 0.00005
NM_001384732.1(CPLANE1):c.8674C>T (p.His2892Tyr) rs201404524 0.00005
NM_001384732.1(CPLANE1):c.9386T>C (p.Val3129Ala) rs1347117644 0.00005
NM_002601.4(PDE6D):c.174A>G (p.Ala58=) rs139835658 0.00005
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) rs151287373 0.00005
NM_015631.6(TCTN3):c.1452+17A>G rs376162804 0.00005
NM_015631.6(TCTN3):c.1591-4G>A rs376757601 0.00005
NM_015631.6(TCTN3):c.488A>G (p.His163Arg) rs376756059 0.00005
NM_015631.6(TCTN3):c.888+10T>C rs746513472 0.00005
NM_001384732.1(CPLANE1):c.1136C>T (p.Thr379Met) rs373606997 0.00004
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302 0.00004
NM_001384732.1(CPLANE1):c.1312C>T (p.Leu438Phe) rs774184345 0.00004
NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter) rs863225163 0.00004
NM_001384732.1(CPLANE1):c.2544G>C (p.Gln848His) rs199749415 0.00004
NM_001384732.1(CPLANE1):c.2611C>T (p.Arg871Cys) rs760906097 0.00004
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys) rs1012462823 0.00004
NM_001384732.1(CPLANE1):c.3620T>C (p.Val1207Ala) rs763642816 0.00004
NM_001384732.1(CPLANE1):c.3839G>A (p.Cys1280Tyr) rs149685637 0.00004
NM_001384732.1(CPLANE1):c.4054A>G (p.Ile1352Val) rs146808769 0.00004
NM_001384732.1(CPLANE1):c.4633C>T (p.Arg1545Cys) rs775743007 0.00004
NM_001384732.1(CPLANE1):c.5141C>T (p.Thr1714Ile) rs1424442518 0.00004
NM_001384732.1(CPLANE1):c.5203T>G (p.Leu1735Val) rs369286097 0.00004
NM_001384732.1(CPLANE1):c.6027G>T (p.Leu2009=) rs772082205 0.00004
NM_001384732.1(CPLANE1):c.6123G>A (p.Ser2041=) rs369977822 0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala) rs370118778 0.00004
NM_001384732.1(CPLANE1):c.7080G>A (p.Pro2360=) rs769298457 0.00004
NM_001384732.1(CPLANE1):c.7154C>T (p.Thr2385Ile) rs369361493 0.00004
NM_001384732.1(CPLANE1):c.7578C>T (p.Asp2526=) rs561079089 0.00004
NM_001384732.1(CPLANE1):c.7589-12A>C rs767934439 0.00004
NM_001384732.1(CPLANE1):c.7764G>A (p.Met2588Ile) rs760750533 0.00004
NM_001384732.1(CPLANE1):c.8120-6A>G rs373606578 0.00004
NM_001384732.1(CPLANE1):c.8514T>C (p.Thr2838=) rs760623510 0.00004
NM_001384732.1(CPLANE1):c.8747C>G (p.Ser2916Cys) rs1454812528 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001384732.1(CPLANE1):c.8930A>G (p.His2977Arg) rs767695592 0.00004
NM_001384732.1(CPLANE1):c.9038A>G (p.Tyr3013Cys) rs143453963 0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter) rs150242262 0.00004
NM_001384732.1(CPLANE1):c.9063C>T (p.Tyr3021=) rs377142277 0.00004
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile) rs766118708 0.00004
NM_002601.4(PDE6D):c.50+16C>A rs993589615 0.00004
NM_003611.3(OFD1):c.1490A>C (p.His497Pro) rs772474080 0.00004
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) rs756793358 0.00004
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter) rs387907273 0.00004
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs) rs755903123 0.00004
NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser) rs755942179 0.00004
NM_015631.6(TCTN3):c.1590+4A>T rs756071891 0.00004
NM_015631.6(TCTN3):c.1591-12T>C rs373643964 0.00004
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr) rs143758863 0.00004
NM_015631.6(TCTN3):c.381-19C>G rs759096352 0.00004
NM_015631.6(TCTN3):c.627+6C>T rs190843846 0.00004
NM_001384732.1(CPLANE1):c.1055C>T (p.Thr352Ile) rs1443893630 0.00003
NM_001384732.1(CPLANE1):c.1745T>C (p.Ile582Thr) rs1260722151 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.1964A>C (p.Gln655Pro) rs923514393 0.00003
NM_001384732.1(CPLANE1):c.2428T>G (p.Cys810Gly) rs886060581 0.00003
NM_001384732.1(CPLANE1):c.2902C>T (p.Pro968Ser) rs980413221 0.00003
NM_001384732.1(CPLANE1):c.2923C>T (p.Gln975Ter) rs863225166 0.00003
NM_001384732.1(CPLANE1):c.3090G>A (p.Thr1030=) rs768564404 0.00003
NM_001384732.1(CPLANE1):c.3364G>A (p.Asp1122Asn) rs775457117 0.00003
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_001384732.1(CPLANE1):c.4055T>C (p.Ile1352Thr) rs759005825 0.00003
NM_001384732.1(CPLANE1):c.4156C>T (p.Leu1386Phe) rs769304117 0.00003
NM_001384732.1(CPLANE1):c.4678T>C (p.Tyr1560His) rs772945484 0.00003
NM_001384732.1(CPLANE1):c.570+12C>T rs1339498232 0.00003
NM_001384732.1(CPLANE1):c.5733T>G (p.Tyr1911Ter) rs770770257 0.00003
NM_001384732.1(CPLANE1):c.6538C>G (p.Gln2180Glu) rs138088605 0.00003
NM_001384732.1(CPLANE1):c.7331G>A (p.Gly2444Glu) rs751548147 0.00003
NM_001384732.1(CPLANE1):c.8432C>T (p.Ala2811Val) rs140657139 0.00003
NM_001384732.1(CPLANE1):c.8594G>A (p.Ser2865Asn) rs752341833 0.00003
NM_001384732.1(CPLANE1):c.8679G>A (p.Pro2893=) rs370303703 0.00003
NM_001384732.1(CPLANE1):c.9227G>A (p.Gly3076Glu) rs376064818 0.00003
NM_001384732.1(CPLANE1):c.9263A>G (p.His3088Arg) rs547370426 0.00003
NM_001384732.1(CPLANE1):c.9633dup (p.Val3212fs) rs765432713 0.00003
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) rs373704405 0.00003
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00003
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357 0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) rs770131832 0.00003
NM_015631.6(TCTN3):c.1134T>G (p.Pro378=) rs771848227 0.00003
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu) rs535199429 0.00003
NM_015631.6(TCTN3):c.153A>G (p.Ser51=) rs937027387 0.00003
NM_015631.6(TCTN3):c.178G>A (p.Val60Met) rs557962090 0.00003
NM_015631.6(TCTN3):c.18C>T (p.Leu6=) rs879694012 0.00003
NM_001384732.1(CPLANE1):c.1348T>G (p.Tyr450Asp) rs1204605921 0.00002
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548 0.00002
NM_001384732.1(CPLANE1):c.1623A>G (p.Glu541=) rs1420586506 0.00002
NM_001384732.1(CPLANE1):c.2354G>A (p.Arg785Gln) rs535811932 0.00002
NM_001384732.1(CPLANE1):c.3450C>T (p.Phe1150=) rs200449169 0.00002
NM_001384732.1(CPLANE1):c.3508-19A>G rs754906346 0.00002
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427 0.00002
NM_001384732.1(CPLANE1):c.3595C>T (p.Arg1199Trp) rs374075447 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001384732.1(CPLANE1):c.4248G>A (p.Val1416=) rs758567108 0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063 0.00002
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724 0.00002
NM_001384732.1(CPLANE1):c.5066A>G (p.Gln1689Arg) rs761691903 0.00002
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter) rs766699868 0.00002
NM_001384732.1(CPLANE1):c.5738-5G>A rs570312147 0.00002
NM_001384732.1(CPLANE1):c.5960C>T (p.Thr1987Met) rs141126113 0.00002
NM_001384732.1(CPLANE1):c.6511C>T (p.Arg2171Trp) rs371324866 0.00002
NM_001384732.1(CPLANE1):c.6734G>T (p.Ser2245Ile) rs750897841 0.00002
NM_001384732.1(CPLANE1):c.7079C>T (p.Pro2360Leu) rs779569678 0.00002
NM_001384732.1(CPLANE1):c.7562C>G (p.Pro2521Arg) rs922260468 0.00002
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter) rs147416429 0.00002
NM_001384732.1(CPLANE1):c.8791A>G (p.Arg2931Gly) rs953624404 0.00002
NM_001384732.1(CPLANE1):c.8828C>T (p.Thr2943Ile) rs778535345 0.00002
NM_001384732.1(CPLANE1):c.8894A>G (p.Tyr2965Cys) rs374005945 0.00002
NM_001384732.1(CPLANE1):c.9574C>G (p.Leu3192Val) rs886060572 0.00002
NM_002601.4(PDE6D):c.363C>T (p.Ser121=) rs1206823310 0.00002
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys) rs758712291 0.00002
NM_003611.3(OFD1):c.2022C>A (p.His674Gln) rs759693810 0.00002
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) rs1260959326 0.00002
NM_003611.3(OFD1):c.3G>A (p.Met1Ile) rs778840618 0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp) rs776834508 0.00002
NM_003611.3(OFD1):c.730A>G (p.Met244Val) rs770614769 0.00002
NM_015631.6(TCTN3):c.1059C>T (p.Gly353=) rs750698768 0.00002
NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr) rs765375312 0.00002
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys) rs777277759 0.00002
NM_015631.6(TCTN3):c.11C>T (p.Pro4Leu) rs1399269953 0.00002
NM_015631.6(TCTN3):c.1298+16C>T rs777492522 0.00002
NM_015631.6(TCTN3):c.1396G>C (p.Asp466His) rs754607949 0.00002
NM_015631.6(TCTN3):c.1421C>A (p.Thr474Asn) rs1190331074 0.00002
NM_015631.6(TCTN3):c.1539G>A (p.Pro513=) rs1026823695 0.00002
NM_015631.6(TCTN3):c.1591-9T>G rs1317879597 0.00002
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala) rs1290852650 0.00002
NM_015631.6(TCTN3):c.16C>G (p.Leu6Val) rs759598264 0.00002
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122 0.00002
NM_015631.6(TCTN3):c.499+5G>T rs1242330719 0.00002
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser) rs541135431 0.00002
NM_015631.6(TCTN3):c.889-18G>C rs1254012662 0.00002
NM_015631.6(TCTN3):c.931C>T (p.Leu311=) rs774592467 0.00002
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys) rs1176554738 0.00002
NM_001384732.1(CPLANE1):c.*427G>A rs921198091 0.00001
NM_001384732.1(CPLANE1):c.*465G>A rs886060570 0.00001
NM_001384732.1(CPLANE1):c.*471A>T rs1282754215 0.00001
NM_001384732.1(CPLANE1):c.*897C>T rs369092543 0.00001
NM_001384732.1(CPLANE1):c.*94G>T rs886060571 0.00001
NM_001384732.1(CPLANE1):c.-24T>C rs1740201460 0.00001
NM_001384732.1(CPLANE1):c.1115C>T (p.Thr372Met) rs1046843624 0.00001
NM_001384732.1(CPLANE1):c.1121+7C>T rs776591358 0.00001
NM_001384732.1(CPLANE1):c.1546G>A (p.Glu516Lys) rs772553650 0.00001
NM_001384732.1(CPLANE1):c.1828C>T (p.Gln610Ter) rs1200574734 0.00001
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs) rs1327245073 0.00001
NM_001384732.1(CPLANE1):c.1958A>G (p.Tyr653Cys) rs1342297170 0.00001
NM_001384732.1(CPLANE1):c.212G>A (p.Ser71Asn) rs756811653 0.00001
NM_001384732.1(CPLANE1):c.2185A>G (p.Ile729Val) rs1010091096 0.00001
NM_001384732.1(CPLANE1):c.2207G>A (p.Ser736Asn) rs765826864 0.00001
NM_001384732.1(CPLANE1):c.2208T>C (p.Ser736=) rs1561663335 0.00001
NM_001384732.1(CPLANE1):c.2325A>T (p.Lys775Asn) rs1313704320 0.00001
NM_001384732.1(CPLANE1):c.2393T>A (p.Met798Lys) rs1485682690 0.00001
NM_001384732.1(CPLANE1):c.2413G>A (p.Val805Ile) rs1490492363 0.00001
NM_001384732.1(CPLANE1):c.2501-7T>C rs1315683149 0.00001
NM_001384732.1(CPLANE1):c.2563C>T (p.Gln855Ter) rs1285358729 0.00001
NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe) rs794727154 0.00001
NM_001384732.1(CPLANE1):c.2664T>A (p.Asp888Glu) rs1287231108 0.00001
NM_001384732.1(CPLANE1):c.2824A>G (p.Met942Val) rs918958290 0.00001
NM_001384732.1(CPLANE1):c.2885A>G (p.His962Arg) rs926554823 0.00001
NM_001384732.1(CPLANE1):c.2932C>T (p.Arg978Ter) rs1359437084 0.00001
NM_001384732.1(CPLANE1):c.2933G>A (p.Arg978Gln) rs992985282 0.00001
NM_001384732.1(CPLANE1):c.2939T>C (p.Ile980Thr) rs1160747089 0.00001
NM_001384732.1(CPLANE1):c.2999G>T (p.Trp1000Leu) rs773362418 0.00001
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655 0.00001
NM_001384732.1(CPLANE1):c.3245T>C (p.Leu1082Ser) rs943993886 0.00001
NM_001384732.1(CPLANE1):c.3379T>G (p.Ser1127Ala) rs776423792 0.00001
NM_001384732.1(CPLANE1):c.3415G>C (p.Asp1139His) rs1789225309 0.00001
NM_001384732.1(CPLANE1):c.3557A>G (p.Lys1186Arg) rs747382965 0.00001
NM_001384732.1(CPLANE1):c.361T>C (p.Tyr121His) rs886060587 0.00001
NM_001384732.1(CPLANE1):c.364G>A (p.Val122Ile) rs1404949478 0.00001
NM_001384732.1(CPLANE1):c.3673-1G>C rs886041688 0.00001
NM_001384732.1(CPLANE1):c.3859G>C (p.Asp1287His) rs606231261 0.00001
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898 0.00001
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs) rs1398880084 0.00001
NM_001384732.1(CPLANE1):c.4175A>G (p.His1392Arg) rs753392667 0.00001
NM_001384732.1(CPLANE1):c.4230T>C (p.Ser1410=) rs571145214 0.00001
NM_001384732.1(CPLANE1):c.4482-1G>T rs774492992 0.00001
NM_001384732.1(CPLANE1):c.4576G>T (p.Asp1526Tyr) rs1363054900 0.00001
NM_001384732.1(CPLANE1):c.4765C>T (p.Leu1589Phe) rs751890710 0.00001
NM_001384732.1(CPLANE1):c.4787T>C (p.Val1596Ala) rs1186525850 0.00001
NM_001384732.1(CPLANE1):c.4948T>C (p.Ser1650Pro) rs536461045 0.00001
NM_001384732.1(CPLANE1):c.5114T>C (p.Ile1705Thr) rs1160277331 0.00001
NM_001384732.1(CPLANE1):c.5152A>G (p.Ile1718Val) rs886060578 0.00001
NM_001384732.1(CPLANE1):c.5210T>C (p.Leu1737Pro) rs781211084 0.00001
NM_001384732.1(CPLANE1):c.5327G>A (p.Arg1776His) rs757385488 0.00001
NM_001384732.1(CPLANE1):c.5422-12G>A rs1561517509 0.00001
NM_001384732.1(CPLANE1):c.5737+15A>G rs1352836895 0.00001
NM_001384732.1(CPLANE1):c.5863G>C (p.Glu1955Gln) rs1042774343 0.00001
NM_001384732.1(CPLANE1):c.5876A>G (p.Glu1959Gly) rs1230715850 0.00001
NM_001384732.1(CPLANE1):c.5978+4A>G rs748763785 0.00001
NM_001384732.1(CPLANE1):c.6057A>G (p.Gln2019=) rs938358328 0.00001
NM_001384732.1(CPLANE1):c.6130G>A (p.Val2044Ile) rs773299420 0.00001
NM_001384732.1(CPLANE1):c.6172C>G (p.Leu2058Val) rs576883816 0.00001
NM_001384732.1(CPLANE1):c.6186C>A (p.Asn2062Lys) rs755471609 0.00001
NM_001384732.1(CPLANE1):c.6309T>G (p.Cys2103Trp) rs749862200 0.00001
NM_001384732.1(CPLANE1):c.6463-17T>C rs753835579 0.00001
NM_001384732.1(CPLANE1):c.646C>T (p.Arg216Trp) rs543556323 0.00001
NM_001384732.1(CPLANE1):c.6595C>T (p.Leu2199Phe) rs572837877 0.00001
NM_001384732.1(CPLANE1):c.6647C>G (p.Ala2216Gly) rs749403465 0.00001
NM_001384732.1(CPLANE1):c.6700C>T (p.Gln2234Ter) rs1381740657 0.00001
NM_001384732.1(CPLANE1):c.6724C>A (p.His2242Asn) rs752372376 0.00001
NM_001384732.1(CPLANE1):c.6815C>T (p.Pro2272Leu) rs777757781 0.00001
NM_001384732.1(CPLANE1):c.7360G>A (p.Glu2454Lys) rs867750018 0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062 0.00001
NM_001384732.1(CPLANE1):c.7401-14A>G rs1052354484 0.00001
NM_001384732.1(CPLANE1):c.7428G>T (p.Leu2476=) rs145750519 0.00001
NM_001384732.1(CPLANE1):c.745G>C (p.Glu249Gln) rs757197770 0.00001
NM_001384732.1(CPLANE1):c.7478G>A (p.Arg2493Gln) rs183942272 0.00001
NM_001384732.1(CPLANE1):c.7576G>A (p.Asp2526Asn) rs535480596 0.00001
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834 0.00001
NM_001384732.1(CPLANE1):c.7588+8T>C rs377295986 0.00001
NM_001384732.1(CPLANE1):c.7641A>G (p.Val2547=) rs771793682 0.00001
NM_001384732.1(CPLANE1):c.7736A>G (p.Tyr2579Cys) rs771614298 0.00001
NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val) rs774074728 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001384732.1(CPLANE1):c.7914G>A (p.Gln2638=) rs750429337 0.00001
NM_001384732.1(CPLANE1):c.7955A>G (p.His2652Arg) rs373755833 0.00001
NM_001384732.1(CPLANE1):c.817A>C (p.Asn273His) rs863225167 0.00001
NM_001384732.1(CPLANE1):c.81G>A (p.Lys27=) rs1264949337 0.00001
NM_001384732.1(CPLANE1):c.833A>G (p.Lys278Arg) rs566588740 0.00001
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102 0.00001
NM_001384732.1(CPLANE1):c.8461+19G>A rs772961080 0.00001
NM_001384732.1(CPLANE1):c.8770G>T (p.Glu2924Ter) rs863225155 0.00001
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His) rs761880579 0.00001
NM_001384732.1(CPLANE1):c.8858G>A (p.Trp2953Ter) rs1482303814 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 0.00001
NM_001384732.1(CPLANE1):c.9146C>T (p.Thr3049Ile) rs767189816 0.00001
NM_001384732.1(CPLANE1):c.9467A>G (p.Gln3156Arg) rs768570313 0.00001
NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr) rs886060584 0.00001
NM_001384732.1(CPLANE1):c.9694G>A (p.Glu3232Lys) rs372215544 0.00001
NM_001384732.1(CPLANE1):c.977G>A (p.Ser326Asn) rs1229752578 0.00001
NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala) rs1448692172 0.00001
NM_002601.4(PDE6D):c.114del (p.Ser39fs) rs772392692 0.00001
NM_002601.4(PDE6D):c.140-19T>C rs766425103 0.00001
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu) rs1430956453 0.00001
NM_002601.4(PDE6D):c.405C>T (p.Asp135=) rs373459369 0.00001
NM_002601.4(PDE6D):c.50+11G>C rs758184957 0.00001
NM_002601.4(PDE6D):c.50+18G>A rs747869732 0.00001
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) rs758903488 0.00001
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121 0.00001
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe) rs774888576 0.00001
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp) rs1235702491 0.00001
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg) rs1158126675 0.00001
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684 0.00001
NM_003611.3(OFD1):c.935+4A>G rs1243725011 0.00001
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly) rs764424025 0.00001
NM_015631.6(TCTN3):c.1088G>A (p.Arg363His) rs1267547707 0.00001
NM_015631.6(TCTN3):c.1111A>G (p.Thr371Ala) rs768480385 0.00001
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly) rs745968146 0.00001
NM_015631.6(TCTN3):c.1176G>T (p.Leu392Phe) rs931265396 0.00001
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn) rs768285987 0.00001
NM_015631.6(TCTN3):c.119G>A (p.Arg40Gln) rs1314333060 0.00001
NM_015631.6(TCTN3):c.1203+1G>C rs1221992171 0.00001
NM_015631.6(TCTN3):c.121G>A (p.Gly41Arg) rs1194762228 0.00001
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) rs200705429 0.00001
NM_015631.6(TCTN3):c.1279A>G (p.Ile427Val) rs142986132 0.00001
NM_015631.6(TCTN3):c.1285G>A (p.Gly429Arg) rs773447066 0.00001
NM_015631.6(TCTN3):c.1298+17G>A rs776775920 0.00001
NM_015631.6(TCTN3):c.1299-19C>T rs751339831 0.00001
NM_015631.6(TCTN3):c.1338T>A (p.Ile446=) rs2097944339 0.00001
NM_015631.6(TCTN3):c.1346C>G (p.Thr449Ser) rs775556315 0.00001
NM_015631.6(TCTN3):c.1453G>T (p.Ala485Ser) rs2097942068 0.00001
NM_015631.6(TCTN3):c.1463G>C (p.Cys488Ser) rs1273735180 0.00001
NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile) rs767733835 0.00001
NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu) rs756561177 0.00001
NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter) rs771745084 0.00001
NM_015631.6(TCTN3):c.1590+15A>G rs781078051 0.00001
NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val) rs747933488 0.00001
NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del) rs891059654 0.00001
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile) rs768523448 0.00001
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe) rs746968875 0.00001
NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr) rs999127884 0.00001
NM_015631.6(TCTN3):c.222G>A (p.Ser74=) rs913092788 0.00001
NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr) rs1391185443 0.00001
NM_015631.6(TCTN3):c.257-11T>G rs1201207763 0.00001
NM_015631.6(TCTN3):c.324C>T (p.Asp108=) rs566756038 0.00001
NM_015631.6(TCTN3):c.381-3C>T rs546476903 0.00001
NM_015631.6(TCTN3):c.499+11A>G rs1428675552 0.00001
NM_015631.6(TCTN3):c.499+18G>A rs1386147381 0.00001
NM_015631.6(TCTN3):c.507A>G (p.Leu169=) rs1566075059 0.00001
NM_015631.6(TCTN3):c.531G>A (p.Lys177=) rs199774247 0.00001
NM_015631.6(TCTN3):c.549C>T (p.Phe183=) rs1403001274 0.00001
NM_015631.6(TCTN3):c.606A>G (p.Gln202=) rs777642622 0.00001
NM_015631.6(TCTN3):c.627+18G>A rs763302632 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_015631.6(TCTN3):c.627G>A (p.Arg209=) rs752918067 0.00001
NM_015631.6(TCTN3):c.705T>C (p.Ala235=) rs1251898935 0.00001
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala) rs780438906 0.00001
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser) rs762720849 0.00001
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) rs764091969 0.00001
NM_015631.6(TCTN3):c.879G>C (p.Gln293His) rs147928670 0.00001
NM_015631.6(TCTN3):c.883A>G (p.Met295Val) rs746046233 0.00001
NM_015631.6(TCTN3):c.889-15T>G rs760597184 0.00001
NM_015631.6(TCTN3):c.889-9C>T rs924437747 0.00001
NM_015631.6(TCTN3):c.894G>C (p.Gln298His) rs1464905299 0.00001
NM_015631.6(TCTN3):c.924T>G (p.Asn308Lys) rs971089853 0.00001
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter) rs793888508 0.00001
NM_015631.6(TCTN3):c.945C>T (p.Asn315=) rs763364836 0.00001
NM_015631.6(TCTN3):c.9C>A (p.Thr3=) rs1471002377 0.00001
NC_000002.11:g.(?_231033840)_(234978657_?)dup
NC_000002.11:g.(?_232597662)_(232597763_?)del
NC_000002.11:g.(?_232597662)_(232597763_?)dup
NC_000002.11:g.(?_232597662)_(232603918_?)dup
NC_000002.11:g.(?_232645755)_(232645824_?)del
NC_000010.10:g.(?_97440209)_(97440386_?)del
NC_000010.10:g.(?_97442388)_(97516032_?)dup
NM_001384732.1(CPLANE1):c.*40C>T rs1757860413
NM_001384732.1(CPLANE1):c.*423C>G rs190089842
NM_001384732.1(CPLANE1):c.*441A>C rs7712558
NM_001384732.1(CPLANE1):c.*661T>G rs886060569
NM_001384732.1(CPLANE1):c.-77C>T rs910545554
NM_001384732.1(CPLANE1):c.1103A>G (p.His368Arg) rs1286291749
NM_001384732.1(CPLANE1):c.1311A>G (p.Ser437=) rs761587080
NM_001384732.1(CPLANE1):c.1347A>G (p.Ile449Met) rs1796727512
NM_001384732.1(CPLANE1):c.1371+86_1371+87insTC rs1796703260
NM_001384732.1(CPLANE1):c.1372-2A>G rs886043786
NM_001384732.1(CPLANE1):c.1383_1384dup (p.Gly462fs) rs1796678879
NM_001384732.1(CPLANE1):c.1522-16dup rs370335300
NM_001384732.1(CPLANE1):c.1817T>G (p.Phe606Cys) rs2150438911
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1823T>G (p.Ile608Ser) rs1194762831
NM_001384732.1(CPLANE1):c.190G>T (p.Val64Phe) rs965197100
NM_001384732.1(CPLANE1):c.202A>G (p.Thr68Ala) rs1002297986
NM_001384732.1(CPLANE1):c.2082G>A (p.Met694Ile) rs2150434091
NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter) rs863225158
NM_001384732.1(CPLANE1):c.2291+8C>T rs1454521743
NM_001384732.1(CPLANE1):c.2558C>A (p.Ala853Asp) rs886060580
NM_001384732.1(CPLANE1):c.2663A>G (p.Asp888Gly) rs1487026046
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val) rs2150361119
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_001384732.1(CPLANE1):c.2746+15_2746+16del rs751625561
NM_001384732.1(CPLANE1):c.2746+16del rs751625561
NM_001384732.1(CPLANE1):c.2746+16dup rs751625561
NM_001384732.1(CPLANE1):c.2763_2764inv (p.His921_Phe922delinsGlnIle)
NM_001384732.1(CPLANE1):c.2854_2855insCT (p.Asn952fs)
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.2949A>G (p.Gln983=)
NM_001384732.1(CPLANE1):c.3007G>T (p.Glu1003Ter) rs863225162
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs) rs2150128669
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
NM_001384732.1(CPLANE1):c.3101T>C (p.Ile1034Thr)
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs) rs863225161
NM_001384732.1(CPLANE1):c.3150-1G>T rs606231258
NM_001384732.1(CPLANE1):c.3290-2A>G rs606231260
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_001384732.1(CPLANE1):c.3507+1G>A rs1580686235
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu) rs141153181
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_001384732.1(CPLANE1):c.3636_3637del (p.Leu1213fs) rs863225157
NM_001384732.1(CPLANE1):c.3673-8_3673-4del rs1163206555
NM_001384732.1(CPLANE1):c.3733T>C (p.Cys1245Arg)
NM_001384732.1(CPLANE1):c.3777_3788del (p.His1260_Asp1263del) rs566159499
NM_001384732.1(CPLANE1):c.3835_3836del (p.Leu1279fs)
NM_001384732.1(CPLANE1):c.4080G>A (p.Lys1360=)
NM_001384732.1(CPLANE1):c.4189+1G>A
NM_001384732.1(CPLANE1):c.4219G>T (p.Val1407Phe) rs2151179962
NM_001384732.1(CPLANE1):c.4241T>C (p.Val1414Ala) rs2151179674
NM_001384732.1(CPLANE1):c.4314del (p.Glu1439fs) rs1554084360
NM_001384732.1(CPLANE1):c.4362del (p.Thr1455fs) rs1561531833
NM_001384732.1(CPLANE1):c.4379G>C (p.Ser1460Thr) rs886060579
NM_001384732.1(CPLANE1):c.4481+4C>G rs769785905
NM_001384732.1(CPLANE1):c.4629T>G (p.Phe1543Leu) rs1783222163
NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263
NM_001384732.1(CPLANE1):c.5040A>T (p.Leu1680Phe) rs1783124765
NM_001384732.1(CPLANE1):c.5051C>T (p.Ser1684Leu) rs2151150270
NM_001384732.1(CPLANE1):c.5054T>C (p.Ile1685Thr) rs750439635
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs) rs779680371
NM_001384732.1(CPLANE1):c.510dup (p.Leu171fs) rs779680371
NM_001384732.1(CPLANE1):c.5150G>A (p.Cys1717Tyr) rs765017990
NM_001384732.1(CPLANE1):c.523A>G (p.Thr175Ala) rs886060586
NM_001384732.1(CPLANE1):c.5255G>A (p.Arg1752Lys) rs763933855
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs) rs777045246
NM_001384732.1(CPLANE1):c.5413_5417del (p.Ala1804_Ile1805insTer) rs1202341886
NM_001384732.1(CPLANE1):c.5447G>C (p.Cys1816Ser) rs138639220
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_001384732.1(CPLANE1):c.5783C>G (p.Ala1928Gly) rs190242054
NM_001384732.1(CPLANE1):c.586T>C (p.Cys196Arg) rs2150766539
NM_001384732.1(CPLANE1):c.6062C>G (p.Pro2021Arg) rs928348123
NM_001384732.1(CPLANE1):c.6114del (p.Asp2039fs)
NM_001384732.1(CPLANE1):c.6125A>C (p.Glu2042Ala) rs766565364
NM_001384732.1(CPLANE1):c.6269_6270del (p.Val2090fs) rs768675259
NM_001384732.1(CPLANE1):c.6286C>T (p.Gln2096Ter) rs2150954061
NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile) rs771457677
NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs) rs1188561908
NM_001384732.1(CPLANE1):c.6398A>C (p.Lys2133Thr) rs1218344038
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs) rs367543064
NM_001384732.1(CPLANE1):c.6456C>A (p.Asn2152Lys) rs186460995
NM_001384732.1(CPLANE1):c.6456C>T (p.Asn2152=) rs186460995
NM_001384732.1(CPLANE1):c.6462G>A (p.Gln2154=)
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs) rs747815682
NM_001384732.1(CPLANE1):c.6519_6520del (p.Gly2174fs)
NM_001384732.1(CPLANE1):c.6668A>T (p.Asp2223Val) rs538086941
NM_001384732.1(CPLANE1):c.699T>C (p.His233=) rs762115051
NM_001384732.1(CPLANE1):c.7020dup (p.Leu2341fs) rs2150932899
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs) rs1779035528
NM_001384732.1(CPLANE1):c.7095A>G (p.Pro2365=) rs886060577
NM_001384732.1(CPLANE1):c.7190del (p.Pro2397fs) rs863225156
NM_001384732.1(CPLANE1):c.7243dup (p.Thr2415fs)
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu) rs146595129
NM_001384732.1(CPLANE1):c.7378C>T (p.Gln2460Ter)
NM_001384732.1(CPLANE1):c.7417G>A (p.Glu2473Lys) rs886060576
NM_001384732.1(CPLANE1):c.7478G>T (p.Arg2493Leu) rs183942272
NM_001384732.1(CPLANE1):c.7494A>G (p.Ile2498Met) rs1778030432
NM_001384732.1(CPLANE1):c.7533G>A (p.Lys2511=) rs753791198
NM_001384732.1(CPLANE1):c.7534-4_7534-3del rs1381389715
NM_001384732.1(CPLANE1):c.767C>A (p.Ala256Asp) rs1799919744
NM_001384732.1(CPLANE1):c.7691-107_7691-105del rs1775821411
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_001384732.1(CPLANE1):c.7972G>A (p.Val2658Ile) rs988332114
NM_001384732.1(CPLANE1):c.7984G>C (p.Val2662Leu) rs772274656
NM_001384732.1(CPLANE1):c.8011+12del rs774770884
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe) rs1561422940
NM_001384732.1(CPLANE1):c.8329C>T (p.Gln2777Ter) rs863225152
NM_001384732.1(CPLANE1):c.834+1G>A rs1581014582
NM_001384732.1(CPLANE1):c.8373+3A>G rs780519767
NM_001384732.1(CPLANE1):c.8374-13G>T rs771664716
NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs) rs775263897
NM_001384732.1(CPLANE1):c.8462-6G>C rs1029215971
NM_001384732.1(CPLANE1):c.8539G>C (p.Glu2847Gln) rs886060574
NM_001384732.1(CPLANE1):c.8633-3T>A rs1561376157
NM_001384732.1(CPLANE1):c.8663+13A>C rs1768906064
NM_001384732.1(CPLANE1):c.8663+1G>T rs1580084520
NM_001384732.1(CPLANE1):c.8664-19A>G rs2150360134
NM_001384732.1(CPLANE1):c.8670A>G (p.Ser2890=) rs886060573
NM_001384732.1(CPLANE1):c.8878G>T (p.Glu2960Ter) rs863225153
NM_001384732.1(CPLANE1):c.8887del (p.Ala2963fs) rs770758833
NM_001384732.1(CPLANE1):c.8947A>T (p.Arg2983Ter) rs1345413118
NM_001384732.1(CPLANE1):c.8980del (p.Glu2993_Ile2994insTer)
NM_001384732.1(CPLANE1):c.9017+1G>T rs863225154
NM_001384732.1(CPLANE1):c.9148dup (p.Gln3050fs) rs1579888631
NM_001384732.1(CPLANE1):c.9180A>G (p.Pro3060=) rs1762653550
NM_001384732.1(CPLANE1):c.938+10C>G rs1308998312
NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=) rs377707922
NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs) rs1579740974
NM_001384732.1(CPLANE1):c.9729G>A (p.Leu3243=) rs1339135347
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del) rs1797611349
NM_001384732.1(CPLANE1):c.[2854_2855insCT;3599C>T]
NM_002601.4(PDE6D):c.117T>A (p.Ser39=) rs2106261946
NM_002601.4(PDE6D):c.126T>G (p.Gly42=) rs2106261935
NM_002601.4(PDE6D):c.139+14C>G
NM_002601.4(PDE6D):c.139+19T>C
NM_002601.4(PDE6D):c.139+20C>G
NM_002601.4(PDE6D):c.140-1G>A rs587777156
NM_002601.4(PDE6D):c.15C>T (p.Asp5=) rs2106294236
NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
NM_002601.4(PDE6D):c.183A>G (p.Arg61=) rs2106261155
NM_002601.4(PDE6D):c.222C>T (p.Phe74=)
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
NM_002601.4(PDE6D):c.257del (p.Cys86fs) rs2048717087
NM_002601.4(PDE6D):c.266-3C>T rs2106260539
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro) rs2106260506
NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp)
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile) rs2048708941
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys) rs1023549002
NM_002601.4(PDE6D):c.33C>T (p.Ile11=)
NM_002601.4(PDE6D):c.342del (p.Glu114fs)
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) rs1559307932
NM_002601.4(PDE6D):c.372-7C>A rs2048664865
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp) rs2106256926
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser) rs1366113264
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)
NM_002601.4(PDE6D):c.46A>T (p.Lys16Ter) rs2106294164
NM_002601.4(PDE6D):c.50+7G>T rs2106294152
NM_002601.4(PDE6D):c.51-12A>G
NM_002601.4(PDE6D):c.51-19del
NM_002601.4(PDE6D):c.51A>C (p.Leu17=) rs1328575509
NM_002601.4(PDE6D):c.66del (p.Arg23fs) rs2106261987
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp) rs570163390
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1411+1G>A rs2147027077
NM_003611.3(OFD1):c.1412-11del rs36052228
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr) rs2147032761
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly) rs2047794483
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
NM_003611.3(OFD1):c.216C>A (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
NM_003611.3(OFD1):c.2387+1G>A rs2047914412
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter) rs2147060430
NM_003611.3(OFD1):c.2488+14_2488+19del rs781190242
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2767del (p.Glu923fs) rs312262894
NM_003611.3(OFD1):c.277G>T (p.Val93Phe) rs863225211
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) rs312262895
NM_003611.3(OFD1):c.2996+16AC[2] rs761270089
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.517+13_517+14delinsGC rs2146959704
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del) rs1131691889
NM_003611.3(OFD1):c.599T>C (p.Leu200Pro) rs2047299277
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) rs1602826132
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) rs398122866
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003611.3(OFD1):c.882T>A (p.Asp294Glu)
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter) rs1555904005
NM_015631.6(TCTN3):c.1008C>A (p.Ile336=)
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met)
NM_015631.6(TCTN3):c.1008C>T (p.Ile336=) rs747888353
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg) rs1206102625
NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys)
NM_015631.6(TCTN3):c.1027T>C (p.Leu343=) rs2097946417
NM_015631.6(TCTN3):c.1029G>A (p.Leu343=)
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)
NM_015631.6(TCTN3):c.1059C>A (p.Gly353=)
NM_015631.6(TCTN3):c.1065C>G (p.Ser355=)
NM_015631.6(TCTN3):c.1065C>T (p.Ser355=) rs2139742208
NM_015631.6(TCTN3):c.1068dup (p.Gln357fs)
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg) rs982781639
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys)
NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser)
NM_015631.6(TCTN3):c.1096-12del
NM_015631.6(TCTN3):c.1096-17C>G
NM_015631.6(TCTN3):c.1096-17C>T
NM_015631.6(TCTN3):c.1096-5T>G
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro) rs200742071
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His)
NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)
NM_015631.6(TCTN3):c.114G>T (p.Leu38=) rs1027956965
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala)
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
NM_015631.6(TCTN3):c.1164G>A (p.Gly388=) rs759892719
NM_015631.6(TCTN3):c.1164G>C (p.Gly388=) rs759892719
NM_015631.6(TCTN3):c.1164dup (p.Lys389fs)
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr) rs1432135827
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
NM_015631.6(TCTN3):c.1203+18G>A rs1353637039
NM_015631.6(TCTN3):c.1203+20G>A
NM_015631.6(TCTN3):c.1203+5C>T rs2139739478
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
NM_015631.6(TCTN3):c.1204-14C>T
NM_015631.6(TCTN3):c.1206dup (p.Thr403fs)
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe) rs1008019391
NM_015631.6(TCTN3):c.1212C>T (p.Leu404=)
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
NM_015631.6(TCTN3):c.1226del (p.Gly409fs)
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr) rs2139738439
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly) rs2139738378
NM_015631.6(TCTN3):c.1296C>T (p.Leu432=) rs368389310
NM_015631.6(TCTN3):c.1298+12C>T
NM_015631.6(TCTN3):c.1298+8T>C
NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr) rs2139738242
NM_015631.6(TCTN3):c.1299-15G>A rs1589614065
NM_015631.6(TCTN3):c.1299-17A>G
NM_015631.6(TCTN3):c.1299-18C>T rs2097944406
NM_015631.6(TCTN3):c.1299-4A>G
NM_015631.6(TCTN3):c.1311A>C (p.Ala437=) rs2139737404
NM_015631.6(TCTN3):c.132C>T (p.Gly44=)
NM_015631.6(TCTN3):c.1347T>A (p.Thr449=)
NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe) rs2139737228
NM_015631.6(TCTN3):c.1348_1349del (p.Leu450fs) rs768525869
NM_015631.6(TCTN3):c.1353T>C (p.His451=)
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
NM_015631.6(TCTN3):c.1365A>G (p.Arg455=)
NM_015631.6(TCTN3):c.1367_1370dup (p.Glu457fs)
NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile)
NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
NM_015631.6(TCTN3):c.138C>T (p.Thr46=) rs887435654
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro) rs1218187792
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
NM_015631.6(TCTN3):c.1417T>C (p.Trp473Arg) rs2097944204
NM_015631.6(TCTN3):c.1421C>G (p.Thr474Ser) rs1190331074
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) rs1589613893
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
NM_015631.6(TCTN3):c.1440C>T (p.His480=) rs753883610
NM_015631.6(TCTN3):c.1451C>T (p.Ser484Leu) rs2139736784
NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys) rs2097942057
NM_015631.6(TCTN3):c.1467T>C (p.Thr489=)
NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs) rs1454064691
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
NM_015631.6(TCTN3):c.1497G>A (p.Glu499=) rs2139731591
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
NM_015631.6(TCTN3):c.1503G>A (p.Gln501=)
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs) rs2139731384
NM_015631.6(TCTN3):c.1548T>C (p.His516=)
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro) rs765803620
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
NM_015631.6(TCTN3):c.1569A>C (p.Leu523=) rs201367852
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg) rs1165507491
NM_015631.6(TCTN3):c.1590+14C>T
NM_015631.6(TCTN3):c.1590+15A>T rs781078051
NM_015631.6(TCTN3):c.1590+8A>G
NM_015631.6(TCTN3):c.1591-7C>G
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr) rs143735885
NM_015631.6(TCTN3):c.1596T>C (p.Ser532=)
NM_015631.6(TCTN3):c.159G>T (p.Ala53=) rs540555381
NM_015631.6(TCTN3):c.1602A>G (p.Gln534=)
NM_015631.6(TCTN3):c.1608A>G (p.Thr536=)
NM_015631.6(TCTN3):c.162T>A (p.Thr54=)
NM_015631.6(TCTN3):c.162T>C (p.Thr54=)
NM_015631.6(TCTN3):c.1647del (p.Thr550fs) rs2139691832
NM_015631.6(TCTN3):c.1650C>T (p.Thr550=) rs2097923995
NM_015631.6(TCTN3):c.165A>C (p.Ala55=)
NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter) rs2139691743
NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
NM_015631.6(TCTN3):c.1680C>G (p.Pro560=)
NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
NM_015631.6(TCTN3):c.1704C>T (p.Phe568=)
NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
NM_015631.6(TCTN3):c.1716C>T (p.Pro572=) rs2097923946
NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys) rs1352225292
NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu) rs1566062590
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
NM_015631.6(TCTN3):c.1758C>T (p.Cys586=)
NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys) rs927310199
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
NM_015631.6(TCTN3):c.1779C>A (p.Ile593=)
NM_015631.6(TCTN3):c.1792C>T (p.Leu598=)
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg) rs1291662541
NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro)
NM_015631.6(TCTN3):c.1809C>T (p.Asn603=)
NM_015631.6(TCTN3):c.1812A>G (p.Leu604=)
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
NM_015631.6(TCTN3):c.182dup (p.Gly62fs) rs763132585
NM_015631.6(TCTN3):c.18C>G (p.Leu6=) rs879694012
NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)
NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile) rs2097955954
NM_015631.6(TCTN3):c.198G>A (p.Val66=)
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
NM_015631.6(TCTN3):c.201C>T (p.Val67=)
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_015631.6(TCTN3):c.219C>T (p.Pro73=)
NM_015631.6(TCTN3):c.21G>C (p.Ala7=)
NM_015631.6(TCTN3):c.228T>G (p.Pro76=)
NM_015631.6(TCTN3):c.245A>T (p.Asp82Val) rs2139768503
NM_015631.6(TCTN3):c.256+11A>G
NM_015631.6(TCTN3):c.256+14T>C
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)
NM_015631.6(TCTN3):c.257-13C>G
NM_015631.6(TCTN3):c.257-13C>T rs768606622
NM_015631.6(TCTN3):c.257-22_257-19del rs1426583967
NM_015631.6(TCTN3):c.25C>T (p.Leu9=)
NM_015631.6(TCTN3):c.261A>G (p.Leu87=)
NM_015631.6(TCTN3):c.264G>T (p.Pro88=)
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_015631.6(TCTN3):c.27G>A (p.Leu9=) rs973353630
NM_015631.6(TCTN3):c.27G>T (p.Leu9=) rs973353630
NM_015631.6(TCTN3):c.28C>T (p.Gln10Ter)
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
NM_015631.6(TCTN3):c.2T>A (p.Met1Lys)
NM_015631.6(TCTN3):c.2T>C (p.Met1Thr)
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu) rs2139767336
NM_015631.6(TCTN3):c.315C>T (p.Cys105=)
NM_015631.6(TCTN3):c.321G>A (p.Arg107=)
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr) rs2139767280
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
NM_015631.6(TCTN3):c.338_341del (p.His113fs) rs761798713
NM_015631.6(TCTN3):c.361T>G (p.Cys121Gly) rs2139767099
NM_015631.6(TCTN3):c.362G>C (p.Cys121Ser) rs1165732615
NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)
NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg) rs1005806916
NM_015631.6(TCTN3):c.371_372del (p.Gly124fs)
NM_015631.6(TCTN3):c.380+16C>A
NM_015631.6(TCTN3):c.380+16C>T
NM_015631.6(TCTN3):c.381-13T>A
NM_015631.6(TCTN3):c.381-17C>T rs1317078515
NM_015631.6(TCTN3):c.381-18C>T
NM_015631.6(TCTN3):c.381-9T>C
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg) rs533262975
NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
NM_015631.6(TCTN3):c.412_413del (p.Val138fs)
NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu) rs1489817091
NM_015631.6(TCTN3):c.435G>A (p.Pro145=) rs769335959
NM_015631.6(TCTN3):c.444A>G (p.Ser148=)
NM_015631.6(TCTN3):c.455T>C (p.Met152Thr) rs2139764940
NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
NM_015631.6(TCTN3):c.480T>C (p.Phe160=)
NM_015631.6(TCTN3):c.489T>C (p.His163=)
NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala) rs1314557393
NM_015631.6(TCTN3):c.500-14A>T
NM_015631.6(TCTN3):c.500-19del
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
NM_015631.6(TCTN3):c.513T>C (p.Tyr171=) rs2139750906
NM_015631.6(TCTN3):c.51C>G (p.Pro17=) rs1482900802
NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn) rs2139769650
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val) rs888815068
NM_015631.6(TCTN3):c.566A>G (p.Glu189Gly)
NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
NM_015631.6(TCTN3):c.57C>T (p.Gly19=)
NM_015631.6(TCTN3):c.585C>T (p.Phe195=)
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu) rs2139750466
NM_015631.6(TCTN3):c.615A>G (p.Pro205=) rs1247615743
NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)
NM_015631.6(TCTN3):c.627+6C>G
NM_015631.6(TCTN3):c.628-10T>C
NM_015631.6(TCTN3):c.628-12T>C
NM_015631.6(TCTN3):c.628-14T>C
NM_015631.6(TCTN3):c.628-4T>C rs1321301372
NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu) rs1406986953
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs) rs749018985
NM_015631.6(TCTN3):c.657C>T (p.Pro219=)
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
NM_015631.6(TCTN3):c.675C>T (p.Ser225=) rs2097949322
NM_015631.6(TCTN3):c.6C>A (p.Arg2=)
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
NM_015631.6(TCTN3):c.710del (p.Gly237fs) rs779729881
NM_015631.6(TCTN3):c.717_718del (p.Cys239_Ala240insTer) rs1276774121
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) rs1555270274
NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala) rs1389518788
NM_015631.6(TCTN3):c.735A>G (p.Ala245=) rs2097949239
NM_015631.6(TCTN3):c.736+18G>A
NM_015631.6(TCTN3):c.736+19T>C
NM_015631.6(TCTN3):c.737-18del
NM_015631.6(TCTN3):c.737-1G>C
NM_015631.6(TCTN3):c.737_738insC (p.Leu248fs)
NM_015631.6(TCTN3):c.754del (p.Ser252fs) rs2139749042
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser) rs780304630
NM_015631.6(TCTN3):c.770G>A (p.Arg257His) rs758733887
NM_015631.6(TCTN3):c.774T>C (p.Phe258=)
NM_015631.6(TCTN3):c.776dup (p.Lys260fs)
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
NM_015631.6(TCTN3):c.783C>T (p.Asn261=)
NM_015631.6(TCTN3):c.78C>T (p.Ser26=)
NM_015631.6(TCTN3):c.793dup (p.Ser265fs)
NM_015631.6(TCTN3):c.801C>T (p.Thr267=)
NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala)
NM_015631.6(TCTN3):c.843A>G (p.Thr281=)
NM_015631.6(TCTN3):c.847T>C (p.Leu283=) rs2139748578
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu) rs2139748562
NM_015631.6(TCTN3):c.851dup (p.Val285fs)
NM_015631.6(TCTN3):c.852+4G>A rs2139748541
NM_015631.6(TCTN3):c.852+7G>A rs1275344078
NM_015631.6(TCTN3):c.853-11T>C
NM_015631.6(TCTN3):c.853-2A>G
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu) rs2139747266
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
NM_015631.6(TCTN3):c.888+13T>C
NM_015631.6(TCTN3):c.888+14G>T rs2139747034
NM_015631.6(TCTN3):c.888+18C>A
NM_015631.6(TCTN3):c.888+3A>T
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
NM_015631.6(TCTN3):c.908_911del (p.Leu303fs) rs2139744863
NM_015631.6(TCTN3):c.910dup (p.Thr304fs)
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile) rs1024201294
NM_015631.6(TCTN3):c.920_941del (p.Ala307fs)
NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)
NM_015631.6(TCTN3):c.934T>C (p.Leu312=)
NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) rs793888508
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
NM_015631.6(TCTN3):c.959T>C (p.Val320Ala) rs546805063
NM_015631.6(TCTN3):c.960A>G (p.Val320=)
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
NM_015631.6(TCTN3):c.969+17C>T rs2139744560
NM_015631.6(TCTN3):c.969+18A>C
NM_015631.6(TCTN3):c.969+19_969+37del
NM_015631.6(TCTN3):c.969+2T>G
NM_015631.6(TCTN3):c.970-15C>A rs773472275
NM_015631.6(TCTN3):c.970-15C>G rs773472275
NM_015631.6(TCTN3):c.970-2A>G rs777263669
NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys) rs745387147
NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu) rs1267152740
NM_015631.6(TCTN3):c.993T>C (p.Asn331=) rs1273105227
NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)
NM_023073.3(CPLANE1):c.-234G>A rs80164363
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]

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