ClinVar Miner

List of variants reported as likely benign for Joubert syndrome and related disorders by Invitae

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1115
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HGVS dbSNP gnomAD frequency
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052 0.01305
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln) rs201609022 0.00214
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764 0.00211
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553 0.00199
NM_001382391.1(CSPP1):c.2590A>C (p.Ser864Arg) rs201259375 0.00198
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) rs140026883 0.00196
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317 0.00181
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) rs186119649 0.00179
NM_001077418.3(TMEM231):c.-40C>G rs114889548 0.00177
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290 0.00177
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys) rs200722491 0.00175
NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu) rs193231165 0.00156
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288 0.00138
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709 0.00129
NM_001077418.3(TMEM231):c.583-20A>T rs375984875 0.00128
NM_001329943.3(KIAA0586):c.4430-6A>C rs199732899 0.00118
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950 0.00105
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn) rs181413894 0.00096
NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly) rs146127619 0.00093
NM_001077418.3(TMEM231):c.-15C>T rs138060715 0.00092
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=) rs201202020 0.00088
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397 0.00077
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp) rs151163650 0.00076
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg) rs200158932 0.00071
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_016464.5(TMEM138):c.102T>A (p.Thr34=) rs139387935 0.00056
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) rs143158234 0.00053
NM_001382391.1(CSPP1):c.3157-15A>G rs199558831 0.00052
NM_001329943.3(KIAA0586):c.1653T>C (p.Ile551=) rs374601841 0.00048
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097 0.00041
NM_001077418.3(TMEM231):c.309+13C>A rs146945255 0.00041
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=) rs370003497 0.00040
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760 0.00039
NM_001329943.3(KIAA0586):c.3781+8A>G rs368737744 0.00034
NM_001044385.3(TMEM237):c.554-10G>A rs371503069 0.00033
NM_001329943.3(KIAA0586):c.2554-9C>T rs202018500 0.00033
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987 0.00031
NM_001329943.3(KIAA0586):c.3304+12A>G rs370645135 0.00031
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884 0.00030
NM_001329943.3(KIAA0586):c.4326C>T (p.Tyr1442=) rs139175231 0.00029
NM_018718.3(CEP41):c.423-18C>A rs371925259 0.00029
NM_018718.3(CEP41):c.422+7G>A rs190680511 0.00028
NM_001329943.3(KIAA0586):c.1254-13T>C rs368443727 0.00027
NM_001044385.3(TMEM237):c.944-16T>C rs369720243 0.00026
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340 0.00026
NM_001382391.1(CSPP1):c.1094-11C>T rs753835152 0.00026
NM_001382391.1(CSPP1):c.1497-13T>C rs193022291 0.00025
NM_001077418.3(TMEM231):c.139+42G>A rs375718217 0.00024
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp) rs199554737 0.00024
NM_001382391.1(CSPP1):c.2268A>G (p.Glu756=) rs199962946 0.00024
NM_001382391.1(CSPP1):c.2539-5T>C rs555281942 0.00023
NM_016464.5(TMEM138):c.128+7G>T rs560650147 0.00023
NM_001329943.3(KIAA0586):c.*2C>T rs376691503 0.00022
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=) rs188676684 0.00021
NM_001329943.3(KIAA0586):c.660C>T (p.His220=) rs555609562 0.00021
NM_001077418.3(TMEM231):c.140-15C>T rs201518524 0.00019
NM_001077418.3(TMEM231):c.438+12C>T rs1000442477 0.00019
NM_001329943.3(KIAA0586):c.1896A>G (p.Lys632=) rs760162925 0.00019
NM_001329943.3(KIAA0586):c.2964C>T (p.Gly988=) rs767722181 0.00019
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=) rs368904420 0.00017
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu) rs531527716 0.00017
NM_001044385.3(TMEM237):c.79+8del rs759786234 0.00016
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=) rs371752653 0.00016
NM_001329943.3(KIAA0586):c.1143A>G (p.Leu381=) rs370408761 0.00016
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=) rs190089844 0.00016
NM_001329943.3(KIAA0586):c.3555A>G (p.Glu1185=) rs780038095 0.00016
NM_001329943.3(KIAA0586):c.2536G>C (p.Val846Leu) rs747245461 0.00015
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln) rs369010440 0.00014
NM_001329943.3(KIAA0586):c.3528-12T>G rs553895000 0.00014
NM_001329943.3(KIAA0586):c.4495+3790C>T rs757410007 0.00014
NM_018718.3(CEP41):c.757+12G>T rs377656524 0.00014
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=) rs373201020 0.00013
NM_001329943.3(KIAA0586):c.2892T>C (p.Pro964=) rs527907908 0.00013
NM_001382391.1(CSPP1):c.1245+15dup rs766672873 0.00013
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met) rs201142840 0.00013
NM_001329943.3(KIAA0586):c.411-1476T>G rs768486087 0.00012
NM_001382391.1(CSPP1):c.1995C>T (p.His665=) rs746724587 0.00012
NM_001382391.1(CSPP1):c.2772G>A (p.Glu924=) rs369933035 0.00012
NM_001382391.1(CSPP1):c.66G>A (p.Glu22=) rs372836006 0.00012
NM_016464.5(TMEM138):c.414C>T (p.Ala138=) rs151094420 0.00012
NM_001077418.3(TMEM231):c.583-9G>A rs371734111 0.00011
NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=) rs780091990 0.00011
NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=) rs548142175 0.00011
NM_016464.5(TMEM138):c.465G>A (p.Lys155=) rs141851191 0.00011
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=) rs774903272 0.00010
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=) rs751840699 0.00009
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535 0.00009
NM_001329943.3(KIAA0586):c.3859-17C>T rs764917881 0.00009
NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu) rs750833160 0.00009
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=) rs533752814 0.00009
NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=) rs550354835 0.00009
NM_001382391.1(CSPP1):c.1697+19G>T rs563103826 0.00009
NM_001382391.1(CSPP1):c.2672C>T (p.Pro891Leu) rs755021253 0.00009
NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys) rs763639767 0.00009
NM_001382391.1(CSPP1):c.3330+18C>A rs372999075 0.00009
NM_001382391.1(CSPP1):c.511A>G (p.Ile171Val) rs188917565 0.00009
NM_001382391.1(CSPP1):c.964C>T (p.His322Tyr) rs145635985 0.00009
NM_016464.5(TMEM138):c.129-4A>G rs372877379 0.00009
NM_001044385.3(TMEM237):c.275-9T>C rs749658028 0.00008
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=) rs190675549 0.00008
NM_001329943.3(KIAA0586):c.2736G>A (p.Pro912=) rs368984896 0.00008
NM_001329943.3(KIAA0586):c.962-14A>T rs200528557 0.00008
NM_001077418.3(TMEM231):c.310-17C>T rs752375895 0.00007
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=) rs368594302 0.00007
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898 0.00007
NM_001329943.3(KIAA0586):c.1077G>A (p.Lys359=) rs199623501 0.00007
NM_001329943.3(KIAA0586):c.1752C>G (p.Thr584=) rs534407882 0.00007
NM_001329943.3(KIAA0586):c.962-15A>C rs767414174 0.00007
NM_001382391.1(CSPP1):c.1141C>T (p.Leu381=) rs539302524 0.00007
NM_001044385.3(TMEM237):c.738G>A (p.Val246=) rs199947989 0.00006
NM_001044385.3(TMEM237):c.74+15C>T rs375401635 0.00006
NM_001044385.3(TMEM237):c.79+15T>C rs182250754 0.00006
NM_001077418.3(TMEM231):c.210G>T (p.Val70=) rs757361739 0.00006
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) rs776287219 0.00006
NM_001077418.3(TMEM231):c.665-19G>A rs200581224 0.00006
NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=) rs371990780 0.00006
NM_001329943.3(KIAA0586):c.2060-17A>T rs753287970 0.00006
NM_001329943.3(KIAA0586):c.3120T>G (p.Ala1040=) rs755369049 0.00006
NM_001329943.3(KIAA0586):c.411-1365C>T rs905321611 0.00006
NM_001329943.3(KIAA0586):c.4496-3801G>A rs575409268 0.00006
NM_001329943.3(KIAA0586):c.783A>G (p.Leu261=) rs370332963 0.00006
NM_001329943.3(KIAA0586):c.987G>A (p.Thr329=) rs552791846 0.00006
NM_001382391.1(CSPP1):c.1209G>A (p.Arg403=) rs370123119 0.00006
NM_001382391.1(CSPP1):c.2841G>A (p.Arg947=) rs368660068 0.00006
NM_016464.5(TMEM138):c.81C>T (p.Phe27=) rs149327827 0.00006
NM_018718.3(CEP41):c.1032C>T (p.Ser344=) rs189895981 0.00006
NM_018718.3(CEP41):c.957G>A (p.Gly319=) rs367931878 0.00006
NM_001044385.3(TMEM237):c.137-14C>G rs760624801 0.00005
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=) rs769897831 0.00005
NM_001329943.3(KIAA0586):c.411-1495T>C rs1364313825 0.00005
NM_001329943.3(KIAA0586):c.4113T>C (p.Ser1371=) rs200906427 0.00005
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=) rs538659713 0.00005
NM_001329943.3(KIAA0586):c.534C>T (p.Thr178=) rs762154780 0.00005
NM_001382391.1(CSPP1):c.3157-7C>T rs750714624 0.00005
NM_018718.3(CEP41):c.146-11A>G rs781817949 0.00005
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743 0.00005
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011 0.00004
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440 0.00004
NM_001044385.3(TMEM237):c.43-8C>T rs759325746 0.00004
NM_001044385.3(TMEM237):c.553+9A>T rs568158023 0.00004
NM_001077418.3(TMEM231):c.139+27C>T rs773052053 0.00004
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=) rs760694007 0.00004
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=) rs778118263 0.00004
NM_001077418.3(TMEM231):c.309+12C>A rs561475784 0.00004
NM_001077418.3(TMEM231):c.665-10T>C rs201237881 0.00004
NM_001077418.3(TMEM231):c.759G>A (p.Val253=) rs1020757759 0.00004
NM_001329943.3(KIAA0586):c.1572A>G (p.Leu524=) rs750393862 0.00004
NM_001329943.3(KIAA0586):c.1885-11T>C rs1344938086 0.00004
NM_001329943.3(KIAA0586):c.271-11A>G rs752733321 0.00004
NM_001329943.3(KIAA0586):c.3183G>A (p.Thr1061=) rs369590767 0.00004
NM_001329943.3(KIAA0586):c.3528-20A>G rs759897107 0.00004
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=) rs377467641 0.00004
NM_001329943.3(KIAA0586):c.3858+10G>A rs1023641988 0.00004
NM_001329943.3(KIAA0586):c.4430-6dup rs755622220 0.00004
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=) rs758764999 0.00004
NM_001329943.3(KIAA0586):c.576G>A (p.Pro192=) rs369143869 0.00004
NM_001329943.3(KIAA0586):c.723T>C (p.His241=) rs373333959 0.00004
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=) rs755838311 0.00004
NM_001382391.1(CSPP1):c.1619-4T>C rs774722380 0.00004
NM_001382391.1(CSPP1):c.1683A>G (p.Leu561=) rs754822898 0.00004
NM_001382391.1(CSPP1):c.1776G>A (p.Pro592=) rs201940935 0.00004
NM_001382391.1(CSPP1):c.2128+16T>G rs770694705 0.00004
NM_001382391.1(CSPP1):c.2784A>G (p.Gln928=) rs754377738 0.00004
NM_001382391.1(CSPP1):c.2829-6C>A rs202184488 0.00004
NM_001382391.1(CSPP1):c.3157-16A>G rs374129705 0.00004
NM_001382391.1(CSPP1):c.484-4A>G rs142440392 0.00004
NM_018718.3(CEP41):c.213C>T (p.Ile71=) rs370498782 0.00004
NM_018718.3(CEP41):c.277+16G>C rs782272723 0.00004
NM_018718.3(CEP41):c.357G>A (p.Ser119=) rs1179996142 0.00004
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=) rs879874108 0.00003
NM_001044385.3(TMEM237):c.75-8C>T rs1274569461 0.00003
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=) rs534627748 0.00003
NM_001077418.3(TMEM231):c.771-4A>C rs199768195 0.00003
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=) rs1412070252 0.00003
NM_001329943.3(KIAA0586):c.1656+4T>C rs368165741 0.00003
NM_001329943.3(KIAA0586):c.1779A>G (p.Lys593=) rs1356132325 0.00003
NM_001329943.3(KIAA0586):c.2944+13G>T rs377092455 0.00003
NM_001329943.3(KIAA0586):c.3162A>T (p.Pro1054=) rs749756433 0.00003
NM_001329943.3(KIAA0586):c.3781+20T>G rs770866188 0.00003
NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=) rs768806838 0.00003
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001382391.1(CSPP1):c.1698-15G>A rs777747860 0.00003
NM_001382391.1(CSPP1):c.2133T>C (p.His711=) rs755593188 0.00003
NM_001382391.1(CSPP1):c.2711-15A>G rs756159198 0.00003
NM_001382391.1(CSPP1):c.3221-14C>T rs202201525 0.00003
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=) rs376215036 0.00003
NM_018718.3(CEP41):c.225C>T (p.Ser75=) rs1402831101 0.00003
NM_018718.3(CEP41):c.33+9C>G rs376019428 0.00003
NM_018718.3(CEP41):c.510C>T (p.Asp170=) rs782083906 0.00003
NM_018718.3(CEP41):c.643-6T>A rs782610948 0.00003
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn) rs782704307 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_001044385.3(TMEM237):c.274+18G>A rs762194214 0.00002
NM_001044385.3(TMEM237):c.75-7G>A rs1443411958 0.00002
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=) rs934193386 0.00002
NM_001077418.3(TMEM231):c.140-35C>T rs750621210 0.00002
NM_001077418.3(TMEM231):c.309+20G>T rs1186787656 0.00002
NM_001077418.3(TMEM231):c.456G>A (p.Val152=) rs571562822 0.00002
NM_001077418.3(TMEM231):c.582+9G>A rs1266194059 0.00002
NM_001244189.2(KIAA0586):c.9+14C>T rs1036728165 0.00002
NM_001329943.3(KIAA0586):c.1130-14C>G rs1457711769 0.00002
NM_001329943.3(KIAA0586):c.1656+7C>A rs777449141 0.00002
NM_001329943.3(KIAA0586):c.3030C>T (p.Asn1010=) rs769869324 0.00002
NM_001329943.3(KIAA0586):c.3432A>C (p.Ser1144=) rs1031513625 0.00002
NM_001329943.3(KIAA0586):c.3782-18T>C rs1430875009 0.00002
NM_001329943.3(KIAA0586):c.3849C>T (p.Ala1283=) rs113191202 0.00002
NM_001329943.3(KIAA0586):c.3894G>A (p.Arg1298=) rs1375416810 0.00002
NM_001329943.3(KIAA0586):c.4169-8G>C rs766302985 0.00002
NM_001382391.1(CSPP1):c.-10-4A>T rs762753703 0.00002
NM_001382391.1(CSPP1):c.-96C>T rs751458139 0.00002
NM_001382391.1(CSPP1):c.1188-16del rs773422166 0.00002
NM_001382391.1(CSPP1):c.1618+16G>A rs768004861 0.00002
NM_001382391.1(CSPP1):c.2032A>C (p.Arg678=) rs762725926 0.00002
NM_001382391.1(CSPP1):c.2128+10C>A rs769248386 0.00002
NM_001382391.1(CSPP1):c.2329A>C (p.Arg777=) rs758218835 0.00002
NM_001382391.1(CSPP1):c.2392-14T>C rs781185001 0.00002
NM_001382391.1(CSPP1):c.2919C>T (p.Asp973=) rs759957152 0.00002
NM_001382391.1(CSPP1):c.2968+10T>C rs374325149 0.00002
NM_001382391.1(CSPP1):c.3221-19C>T rs750846829 0.00002
NM_001382391.1(CSPP1):c.3330+11G>A rs1339355378 0.00002
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=) rs552763349 0.00002
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) rs749332092 0.00002
NM_001382391.1(CSPP1):c.483+10G>C rs758310938 0.00002
NM_001382391.1(CSPP1):c.744G>A (p.Arg248=) rs1395679668 0.00002
NM_001382391.1(CSPP1):c.945G>A (p.Gly315=) rs759906585 0.00002
NM_001382391.1(CSPP1):c.972G>C (p.Gly324=) rs750069772 0.00002
NM_016464.5(TMEM138):c.128+8C>T rs769334895 0.00002
NM_016464.5(TMEM138):c.192C>T (p.Phe64=) rs199841349 0.00002
NM_016464.5(TMEM138):c.426C>T (p.Gly142=) rs781330063 0.00002
NM_018718.3(CEP41):c.1050T>G (p.Gly350=) rs374440977 0.00002
NM_018718.3(CEP41):c.205C>T (p.Leu69=) rs144793783 0.00002
NM_018718.3(CEP41):c.277+19G>A rs377242873 0.00002
NM_018718.3(CEP41):c.723G>A (p.Glu241=) rs782303641 0.00002
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=) rs770907860 0.00001
NM_001044385.3(TMEM237):c.1159+20G>A rs1162670210 0.00001
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328 0.00001
NM_001044385.3(TMEM237):c.136+17T>C rs1461794959 0.00001
NM_001044385.3(TMEM237):c.136+7C>T rs768764111 0.00001
NM_001044385.3(TMEM237):c.42+15G>A rs1461749315 0.00001
NM_001044385.3(TMEM237):c.43-6C>T rs886974025 0.00001
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=) rs1466574515 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092 0.00001
NM_001077418.3(TMEM231):c.139+24C>T rs746632596 0.00001
NM_001077418.3(TMEM231):c.139+39G>T rs1448302846 0.00001
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=) rs1444231443 0.00001
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=) rs751631216 0.00001
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=) rs748111030 0.00001
NM_001077418.3(TMEM231):c.583-10C>T rs774265542 0.00001
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=) rs959165450 0.00001
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=) rs750043051 0.00001
NM_001077418.3(TMEM231):c.770+18G>T rs1413880610 0.00001
NM_001077418.3(TMEM231):c.771-6C>A rs1160382019 0.00001
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=) rs759314500 0.00001
NM_001329943.3(KIAA0586):c.1059G>A (p.Arg353=) rs1283583747 0.00001
NM_001329943.3(KIAA0586):c.1206C>T (p.Thr402=) rs779005063 0.00001
NM_001329943.3(KIAA0586):c.1254-7C>T rs371116548 0.00001
NM_001329943.3(KIAA0586):c.1341A>G (p.Lys447=) rs755857778 0.00001
NM_001329943.3(KIAA0586):c.1362+12A>G rs374756414 0.00001
NM_001329943.3(KIAA0586):c.1363-18G>A rs767847589 0.00001
NM_001329943.3(KIAA0586):c.1557G>A (p.Ser519=) rs527483829 0.00001
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val) rs556274091 0.00001
NM_001329943.3(KIAA0586):c.1656+11G>A rs2040060841 0.00001
NM_001329943.3(KIAA0586):c.1791A>G (p.Pro597=) rs1202169940 0.00001
NM_001329943.3(KIAA0586):c.200-15C>T rs764593812 0.00001
NM_001329943.3(KIAA0586):c.2010A>G (p.Pro670=) rs185266107 0.00001
NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=) rs750714192 0.00001
NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=) rs559438142 0.00001
NM_001329943.3(KIAA0586):c.2255-11A>G rs752712583 0.00001
NM_001329943.3(KIAA0586):c.2295A>C (p.Gly765=) rs200937470 0.00001
NM_001329943.3(KIAA0586):c.2505G>C (p.Leu835=) rs751246498 0.00001
NM_001329943.3(KIAA0586):c.2634+20A>G rs546773198 0.00001
NM_001329943.3(KIAA0586):c.2635-17G>T rs1478236874 0.00001
NM_001329943.3(KIAA0586):c.2823A>G (p.Gln941=) rs776447854 0.00001
NM_001329943.3(KIAA0586):c.285C>T (p.Asp95=) rs527601211 0.00001
NM_001329943.3(KIAA0586):c.2862G>A (p.Gly954=) rs746874985 0.00001
NM_001329943.3(KIAA0586):c.2912G>A (p.Ser971Asn) rs3783696 0.00001
NM_001329943.3(KIAA0586):c.3246T>G (p.Ser1082=) rs779554669 0.00001
NM_001329943.3(KIAA0586):c.3304+19T>A rs759164063 0.00001
NM_001329943.3(KIAA0586):c.3375G>A (p.Ala1125=) rs765655962 0.00001
NM_001329943.3(KIAA0586):c.340+7G>T rs763185199 0.00001
NM_001329943.3(KIAA0586):c.3527+12C>T rs1369279718 0.00001
NM_001329943.3(KIAA0586):c.3594A>G (p.Pro1198=) rs764114899 0.00001
NM_001329943.3(KIAA0586):c.3633G>A (p.Lys1211=) rs780785984 0.00001
NM_001329943.3(KIAA0586):c.3687A>G (p.Thr1229=) rs773464253 0.00001
NM_001329943.3(KIAA0586):c.3696T>C (p.Val1232=) rs1480788246 0.00001
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=) rs758690971 0.00001
NM_001329943.3(KIAA0586):c.3750A>G (p.Leu1250=) rs1222178512 0.00001
NM_001329943.3(KIAA0586):c.3816T>C (p.Leu1272=) rs755315601 0.00001
NM_001329943.3(KIAA0586):c.3819T>C (p.Asn1273=) rs970331206 0.00001
NM_001329943.3(KIAA0586):c.3858+8A>G rs370569855 0.00001
NM_001329943.3(KIAA0586):c.3948C>T (p.Asn1316=) rs1437021057 0.00001
NM_001329943.3(KIAA0586):c.4035C>T (p.Pro1345=) rs757412652 0.00001
NM_001329943.3(KIAA0586):c.411-1389C>T rs1490162703 0.00001
NM_001329943.3(KIAA0586):c.4137A>G (p.Lys1379=) rs372138430 0.00001
NM_001329943.3(KIAA0586):c.4185T>C (p.Asp1395=) rs2044165528 0.00001
NM_001329943.3(KIAA0586):c.420C>T (p.Ser140=) rs900262881 0.00001
NM_001329943.3(KIAA0586):c.4495+3778T>C rs1022389517 0.00001
NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu) rs767347007 0.00001
NM_001329943.3(KIAA0586):c.726T>C (p.Asp242=) rs1019648840 0.00001
NM_001329943.3(KIAA0586):c.808-14C>G rs765153409 0.00001
NM_001329943.3(KIAA0586):c.888T>C (p.Tyr296=) rs541197914 0.00001
NM_001329943.3(KIAA0586):c.891C>T (p.Ser297=) rs1424135868 0.00001
NM_001382391.1(CSPP1):c.-112G>C rs753468929 0.00001
NM_001382391.1(CSPP1):c.-76C>T rs1261027822 0.00001
NM_001382391.1(CSPP1):c.-82G>C rs778940690 0.00001
NM_001382391.1(CSPP1):c.1023-9T>C rs1161675884 0.00001
NM_001382391.1(CSPP1):c.1065C>T (p.Thr355=) rs780635377 0.00001
NM_001382391.1(CSPP1):c.1123A>C (p.Arg375=) rs1215710015 0.00001
NM_001382391.1(CSPP1):c.1188-10T>C rs1458775172 0.00001
NM_001382391.1(CSPP1):c.1398A>G (p.Pro466=) rs182555422 0.00001
NM_001382391.1(CSPP1):c.1416A>G (p.Pro472=) rs747901737 0.00001
NM_001382391.1(CSPP1):c.1524A>G (p.Leu508=) rs756441690 0.00001
NM_001382391.1(CSPP1):c.1623T>C (p.Gly541=) rs1441641063 0.00001
NM_001382391.1(CSPP1):c.1782T>C (p.Pro594=) rs759106091 0.00001
NM_001382391.1(CSPP1):c.1827+10C>A rs757078413 0.00001
NM_001382391.1(CSPP1):c.1828-4C>A rs1064797347 0.00001
NM_001382391.1(CSPP1):c.1875A>G (p.Glu625=) rs1320611050 0.00001
NM_001382391.1(CSPP1):c.1959A>G (p.Ala653=) rs1334965098 0.00001
NM_001382391.1(CSPP1):c.200-15T>C rs1025519086 0.00001
NM_001382391.1(CSPP1):c.2128+17T>G rs1465446692 0.00001
NM_001382391.1(CSPP1):c.2242-19A>T rs771867162 0.00001
NM_001382391.1(CSPP1):c.2391+7C>G rs1827123471 0.00001
NM_001382391.1(CSPP1):c.2436A>G (p.Arg812=) rs775968442 0.00001
NM_001382391.1(CSPP1):c.2538+10A>G rs141325681 0.00001
NM_001382391.1(CSPP1):c.2538+11G>A rs758376225 0.00001
NM_001382391.1(CSPP1):c.2619C>T (p.Asp873=) rs780284845 0.00001
NM_001382391.1(CSPP1):c.2643+7A>G rs190584438 0.00001
NM_001382391.1(CSPP1):c.2658C>G (p.Ser886=) rs763958350 0.00001
NM_001382391.1(CSPP1):c.2676G>A (p.Pro892=) rs778144204 0.00001
NM_001382391.1(CSPP1):c.2754A>G (p.Lys918=) rs1324539056 0.00001
NM_001382391.1(CSPP1):c.2829-4A>G rs752142812 0.00001
NM_001382391.1(CSPP1):c.285C>T (p.Tyr95=) rs567550598 0.00001
NM_001382391.1(CSPP1):c.2886T>A (p.Ala962=) rs761971816 0.00001
NM_001382391.1(CSPP1):c.297T>C (p.Leu99=) rs1810339109 0.00001
NM_001382391.1(CSPP1):c.303+7A>G rs1810343333 0.00001
NM_001382391.1(CSPP1):c.3109+20G>A rs373555747 0.00001
NM_001382391.1(CSPP1):c.3156+16C>A rs773054384 0.00001
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=) rs769247285 0.00001
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=) rs1040715506 0.00001
NM_001382391.1(CSPP1):c.414A>G (p.Glu138=) rs760017432 0.00001
NM_001382391.1(CSPP1):c.606A>G (p.Ala202=) rs757510042 0.00001
NM_001382391.1(CSPP1):c.666T>C (p.Asp222=) rs374780184 0.00001
NM_001382391.1(CSPP1):c.738T>C (p.His246=) rs773951141 0.00001
NM_001382391.1(CSPP1):c.867G>A (p.Arg289=) rs1446123007 0.00001
NM_016464.5(TMEM138):c.129-18T>A rs1181378192 0.00001
NM_016464.5(TMEM138):c.129-20A>T rs1477684645 0.00001
NM_016464.5(TMEM138):c.129-8G>T rs1438561210 0.00001
NM_016464.5(TMEM138):c.276C>T (p.Ser92=) rs756828257 0.00001
NM_016464.5(TMEM138):c.300+17G>A rs1858147311 0.00001
NM_016464.5(TMEM138):c.301-9C>A rs764884921 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_018718.3(CEP41):c.1053C>T (p.Gly351=) rs782191360 0.00001
NM_018718.3(CEP41):c.146-18T>C rs202065857 0.00001
NM_018718.3(CEP41):c.165T>C (p.Asp55=) rs782085186 0.00001
NM_018718.3(CEP41):c.186A>G (p.Lys62=) rs1797202624 0.00001
NM_018718.3(CEP41):c.208-17A>G rs1374383852 0.00001
NM_018718.3(CEP41):c.384C>T (p.Asn128=) rs374535389 0.00001
NM_018718.3(CEP41):c.423-8A>G rs1796893817 0.00001
NM_018718.3(CEP41):c.643-12T>C rs782521409 0.00001
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161 0.00001
NM_018718.3(CEP41):c.696C>T (p.Ala232=) rs1796819118 0.00001
NM_018718.3(CEP41):c.705G>A (p.Ala235=) rs149052906 0.00001
NM_018718.3(CEP41):c.741C>T (p.Leu247=) rs781822221 0.00001
NM_018718.3(CEP41):c.753C>T (p.Ser251=) rs200612684 0.00001
NM_018718.3(CEP41):c.973+11T>C rs781847285 0.00001
NM_018718.3(CEP41):c.973+15C>T rs979158941 0.00001
NM_018718.3(CEP41):c.974-8C>T rs367692258 0.00001
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
NM_001044385.3(TMEM237):c.1038-13T>C
NM_001044385.3(TMEM237):c.1038-16G>A
NM_001044385.3(TMEM237):c.1038-18G>C rs1462537932
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
NM_001044385.3(TMEM237):c.1159+15A>C
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
NM_001044385.3(TMEM237):c.136+19T>C rs2105903480
NM_001044385.3(TMEM237):c.136+20T>C
NM_001044385.3(TMEM237):c.137-14_137-13del
NM_001044385.3(TMEM237):c.137-17A>G
NM_001044385.3(TMEM237):c.137-19C>G rs369430368
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=) rs2105902384
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=) rs2105902371
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=) rs2105902357
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=) rs377090903
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
NM_001044385.3(TMEM237):c.274+14C>G
NM_001044385.3(TMEM237):c.274+18G>C
NM_001044385.3(TMEM237):c.274+9A>G
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)
NM_001044385.3(TMEM237):c.395+16T>C
NM_001044385.3(TMEM237):c.396-15A>G
NM_001044385.3(TMEM237):c.396-4A>G
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=) rs1253365223
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=) rs2105900286
NM_001044385.3(TMEM237):c.42+16C>G rs2105906044
NM_001044385.3(TMEM237):c.42+18C>T
NM_001044385.3(TMEM237):c.42+7G>T
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=) rs2105900225
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=) rs1433478535
NM_001044385.3(TMEM237):c.554-3dup rs778807445
NM_001044385.3(TMEM237):c.554-5C>T
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=) rs2105899171
NM_001044385.3(TMEM237):c.677+18A>G
NM_001044385.3(TMEM237):c.678-13C>T rs1957789089
NM_001044385.3(TMEM237):c.678-15C>A
NM_001044385.3(TMEM237):c.678-6A>G
NM_001044385.3(TMEM237):c.69G>T (p.Val23=) rs2105904439
NM_001044385.3(TMEM237):c.747T>A (p.Val249=) rs1957787811
NM_001044385.3(TMEM237):c.75-19G>A
NM_001044385.3(TMEM237):c.75-5G>A
NM_001044385.3(TMEM237):c.79+20A>T rs745908076
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
NM_001044385.3(TMEM237):c.80-20C>T rs753443048
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=) rs2105898943
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=) rs2105898925
NM_001044385.3(TMEM237):c.869+11T>C
NM_001044385.3(TMEM237):c.869+15T>C
NM_001044385.3(TMEM237):c.869+16C>T rs980158363
NM_001044385.3(TMEM237):c.869+8C>G
NM_001044385.3(TMEM237):c.870-4C>G
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=) rs2105898446
NM_001044385.3(TMEM237):c.943+15dup
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
NM_001077418.3(TMEM231):c.-30C>A rs2080810566
NM_001077418.3(TMEM231):c.139+12C>T rs937269706
NM_001077418.3(TMEM231):c.139+39G>C rs1448302846
NM_001077418.3(TMEM231):c.139+48G>T rs1234390023
NM_001077418.3(TMEM231):c.139+9G>A
NM_001077418.3(TMEM231):c.140-29C>T
NM_001077418.3(TMEM231):c.140-2A>G rs1216670609
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.140-5C>T
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=) rs781250253
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=) rs2151710642
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
NM_001077418.3(TMEM231):c.309+12C>T
NM_001077418.3(TMEM231):c.310-15G>C rs2151703201
NM_001077418.3(TMEM231):c.310-4C>G rs2080685365
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys) rs775329522
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
NM_001077418.3(TMEM231):c.396T>C (p.Val132=) rs1187444555
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=) rs2080683492
NM_001077418.3(TMEM231):c.438+13G>A rs780849828
NM_001077418.3(TMEM231):c.438+13G>T rs780849828
NM_001077418.3(TMEM231):c.439-11A>G
NM_001077418.3(TMEM231):c.439-20G>T
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=) rs1335128278
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
NM_001077418.3(TMEM231):c.582+17T>G
NM_001077418.3(TMEM231):c.582+8C>T
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
NM_001077418.3(TMEM231):c.665-11T>C rs886039807
NM_001077418.3(TMEM231):c.665-13G>C
NM_001077418.3(TMEM231):c.665-19G>T rs200581224
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr) rs1344067825
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val) rs951457866
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
NM_001077418.3(TMEM231):c.770+20G>A
NM_001077418.3(TMEM231):c.771-17T>G
NM_001077418.3(TMEM231):c.771-4A>G
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=) rs754352443
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=) rs1362332031
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
NM_001244189.2(KIAA0586):c.9+12G>C rs2140365548
NM_001244189.2(KIAA0586):c.9+16C>T
NM_001329943.3(KIAA0586):c.*20A>G
NM_001329943.3(KIAA0586):c.-1T>C
NM_001329943.3(KIAA0586):c.-31T>G
NM_001329943.3(KIAA0586):c.-36G>A rs781284563
NM_001329943.3(KIAA0586):c.-37C>G
NM_001329943.3(KIAA0586):c.-47A>G
NM_001329943.3(KIAA0586):c.1026A>G (p.Ala342=)
NM_001329943.3(KIAA0586):c.1125C>T (p.His375=)
NM_001329943.3(KIAA0586):c.1129+16A>C rs1263079347
NM_001329943.3(KIAA0586):c.1129+20G>C
NM_001329943.3(KIAA0586):c.1130-12C>T
NM_001329943.3(KIAA0586):c.1130-16A>G
NM_001329943.3(KIAA0586):c.1130-18A>G
NM_001329943.3(KIAA0586):c.1130-20C>G
NM_001329943.3(KIAA0586):c.1130-7A>G rs1656520928
NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)
NM_001329943.3(KIAA0586):c.1200C>T (p.Asn400=)
NM_001329943.3(KIAA0586):c.1203C>T (p.Thr401=) rs2039565444
NM_001329943.3(KIAA0586):c.1253+12A>T
NM_001329943.3(KIAA0586):c.1253+17G>A
NM_001329943.3(KIAA0586):c.1253+19A>C
NM_001329943.3(KIAA0586):c.1254-12A>G
NM_001329943.3(KIAA0586):c.1284T>C (p.Thr428=)
NM_001329943.3(KIAA0586):c.1320T>C (p.His440=)
NM_001329943.3(KIAA0586):c.1329C>T (p.Gly443=)
NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=)
NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=)
NM_001329943.3(KIAA0586):c.1362+10G>T
NM_001329943.3(KIAA0586):c.1362+17C>T
NM_001329943.3(KIAA0586):c.1363-11T>C rs2140842996
NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)
NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=)
NM_001329943.3(KIAA0586):c.1395A>G (p.Pro465=) rs2140843741
NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=)
NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)
NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)
NM_001329943.3(KIAA0586):c.1503T>C (p.Leu501=)
NM_001329943.3(KIAA0586):c.1506A>G (p.Glu502=)
NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)
NM_001329943.3(KIAA0586):c.1569T>C (p.Ala523=)
NM_001329943.3(KIAA0586):c.1575T>C (p.Ser525=)
NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=)
NM_001329943.3(KIAA0586):c.1583+17A>G
NM_001329943.3(KIAA0586):c.1583+7G>A rs1333490071
NM_001329943.3(KIAA0586):c.1584-14T>C rs2140853060
NM_001329943.3(KIAA0586):c.1584-18C>A
NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=) rs776054856
NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=)
NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=)
NM_001329943.3(KIAA0586):c.1656+12A>G
NM_001329943.3(KIAA0586):c.1656+17A>T
NM_001329943.3(KIAA0586):c.1656+19C>A
NM_001329943.3(KIAA0586):c.1657-13T>C
NM_001329943.3(KIAA0586):c.1680T>C (p.Tyr560=)
NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=)
NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=)
NM_001329943.3(KIAA0586):c.1782T>A (p.Ser594=)
NM_001329943.3(KIAA0586):c.1821G>A (p.Glu607=)
NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)
NM_001329943.3(KIAA0586):c.1836A>C (p.Leu612=) rs567927914
NM_001329943.3(KIAA0586):c.1836A>G (p.Leu612=) rs567927914
NM_001329943.3(KIAA0586):c.1875G>A (p.Glu625=)
NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)
NM_001329943.3(KIAA0586):c.1884+15T>C rs1313237040
NM_001329943.3(KIAA0586):c.1885-12T>G
NM_001329943.3(KIAA0586):c.1885-12_1885-11del
NM_001329943.3(KIAA0586):c.1885-15A>T
NM_001329943.3(KIAA0586):c.1885-5C>T rs752142962
NM_001329943.3(KIAA0586):c.1917T>C (p.Asp639=) rs376649351
NM_001329943.3(KIAA0586):c.1920A>G (p.Glu640=) rs1477846398
NM_001329943.3(KIAA0586):c.1974T>C (p.Thr658=)
NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=)
NM_001329943.3(KIAA0586):c.199+13A>C rs769176872
NM_001329943.3(KIAA0586):c.199+13A>G
NM_001329943.3(KIAA0586):c.199+15G>A
NM_001329943.3(KIAA0586):c.200-5G>A
NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=)
NM_001329943.3(KIAA0586):c.2022C>T (p.Ser674=) rs2140887489
NM_001329943.3(KIAA0586):c.2032A>C (p.Arg678=) rs190081177
NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=)
NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)
NM_001329943.3(KIAA0586):c.2059+20A>G
NM_001329943.3(KIAA0586):c.2060-16T>C
NM_001329943.3(KIAA0586):c.2060-19C>T
NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=)
NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=)
NM_001329943.3(KIAA0586):c.2254+17T>C rs2140941167
NM_001329943.3(KIAA0586):c.2254+20G>T
NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=)
NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)
NM_001329943.3(KIAA0586):c.2304C>T (p.Val768=)
NM_001329943.3(KIAA0586):c.2442+11del rs753806115
NM_001329943.3(KIAA0586):c.2442+15A>C
NM_001329943.3(KIAA0586):c.2442+16T>C
NM_001329943.3(KIAA0586):c.2442+9G>A rs1490718693
NM_001329943.3(KIAA0586):c.2443-14G>A
NM_001329943.3(KIAA0586):c.2443-18T>C
NM_001329943.3(KIAA0586):c.2443-19A>G
NM_001329943.3(KIAA0586):c.2443-4T>C rs911579183
NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)
NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)
NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=)
NM_001329943.3(KIAA0586):c.2481T>C (p.Ser827=)
NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=) rs761492303
NM_001329943.3(KIAA0586):c.2505G>A (p.Leu835=) rs751246498
NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=)
NM_001329943.3(KIAA0586):c.2553+20C>A
NM_001329943.3(KIAA0586):c.2554-4T>G
NM_001329943.3(KIAA0586):c.2554-9C>A
NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=)
NM_001329943.3(KIAA0586):c.2598A>G (p.Pro866=)
NM_001329943.3(KIAA0586):c.261G>T (p.Val87=)
NM_001329943.3(KIAA0586):c.2634+12T>C rs766964981
NM_001329943.3(KIAA0586):c.264A>G (p.Ser88=) rs2037178345
NM_001329943.3(KIAA0586):c.2787T>C (p.Ile929=)
NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=)
NM_001329943.3(KIAA0586):c.2825+15T>G
NM_001329943.3(KIAA0586):c.2826-10A>G
NM_001329943.3(KIAA0586):c.2826-11C>T
NM_001329943.3(KIAA0586):c.2826-12C>T
NM_001329943.3(KIAA0586):c.2847A>C (p.Ser949=)
NM_001329943.3(KIAA0586):c.2877G>A (p.Gln959=)
NM_001329943.3(KIAA0586):c.2883G>A (p.Gln961=) rs1187492772
NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)
NM_001329943.3(KIAA0586):c.2928A>G (p.Pro976=)
NM_001329943.3(KIAA0586):c.2944+13G>A
NM_001329943.3(KIAA0586):c.2944+16T>A
NM_001329943.3(KIAA0586):c.2944+17T>G
NM_001329943.3(KIAA0586):c.2944+19T>A
NM_001329943.3(KIAA0586):c.2945-4T>C
NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)
NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)
NM_001329943.3(KIAA0586):c.2976T>G (p.Leu992=)
NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=)
NM_001329943.3(KIAA0586):c.2997T>G (p.Pro999=) rs1284387922
NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=)
NM_001329943.3(KIAA0586):c.306T>G (p.Pro102=)
NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)
NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=)
NM_001329943.3(KIAA0586):c.3144+20C>G
NM_001329943.3(KIAA0586):c.3144+20C>T
NM_001329943.3(KIAA0586):c.3144+7G>A
NM_001329943.3(KIAA0586):c.3145-12T>C
NM_001329943.3(KIAA0586):c.3145-16G>A
NM_001329943.3(KIAA0586):c.3145-8T>C
NM_001329943.3(KIAA0586):c.3216G>A (p.Glu1072=) rs528416301
NM_001329943.3(KIAA0586):c.3304+14_3304+19del
NM_001329943.3(KIAA0586):c.3304+9_3304+10insAG rs2141183723
NM_001329943.3(KIAA0586):c.3305-17T>A
NM_001329943.3(KIAA0586):c.3305-17_3305-16insG
NM_001329943.3(KIAA0586):c.3305-18_3305-17insA
NM_001329943.3(KIAA0586):c.3339T>C (p.Thr1113=)
NM_001329943.3(KIAA0586):c.3351C>A (p.Thr1117=)
NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)
NM_001329943.3(KIAA0586):c.336A>G (p.Gln112=)
NM_001329943.3(KIAA0586):c.3372A>G (p.Pro1124=)
NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=)
NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=)
NM_001329943.3(KIAA0586):c.3390C>T (p.Thr1130=) rs2141193804
NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=) rs2140373069
NM_001329943.3(KIAA0586):c.340+13T>G
NM_001329943.3(KIAA0586):c.340+14A>G
NM_001329943.3(KIAA0586):c.341-17G>C
NM_001329943.3(KIAA0586):c.3438A>G (p.Pro1146=)
NM_001329943.3(KIAA0586):c.3474A>C (p.Pro1158=) rs759687892
NM_001329943.3(KIAA0586):c.3527+17T>C
NM_001329943.3(KIAA0586):c.3528-15T>G rs752835695
NM_001329943.3(KIAA0586):c.3528-16G>A
NM_001329943.3(KIAA0586):c.3561G>A (p.Glu1187=)
NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=)
NM_001329943.3(KIAA0586):c.3624C>T (p.Ala1208=) rs367676896
NM_001329943.3(KIAA0586):c.3639T>G (p.Pro1213=) rs2141202944
NM_001329943.3(KIAA0586):c.363G>A (p.Gln121=) rs368352741
NM_001329943.3(KIAA0586):c.3645C>T (p.Pro1215=)
NM_001329943.3(KIAA0586):c.3651G>A (p.Gln1217=) rs1489789614
NM_001329943.3(KIAA0586):c.3669A>G (p.Ser1223=)
NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=) rs372215354
NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=)
NM_001329943.3(KIAA0586):c.3781+18A>G
NM_001329943.3(KIAA0586):c.3782-18T>A
NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)
NM_001329943.3(KIAA0586):c.3813C>T (p.Asn1271=)
NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)
NM_001329943.3(KIAA0586):c.3858+16C>T
NM_001329943.3(KIAA0586):c.3858+7A>G rs771949597
NM_001329943.3(KIAA0586):c.3858+9C>T
NM_001329943.3(KIAA0586):c.3859-13A>G
NM_001329943.3(KIAA0586):c.3859-16T>A
NM_001329943.3(KIAA0586):c.3906A>G (p.Lys1302=)
NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)
NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=) rs757393939
NM_001329943.3(KIAA0586):c.3990+19G>A
NM_001329943.3(KIAA0586):c.4002C>T (p.Asn1334=)
NM_001329943.3(KIAA0586):c.411-12T>G
NM_001329943.3(KIAA0586):c.411-1347C>T
NM_001329943.3(KIAA0586):c.411-1348dup
NM_001329943.3(KIAA0586):c.411-1349C>T
NM_001329943.3(KIAA0586):c.411-1355C>T
NM_001329943.3(KIAA0586):c.411-1380G>A
NM_001329943.3(KIAA0586):c.411-1491G>T rs2140520688
NM_001329943.3(KIAA0586):c.411-15dup
NM_001329943.3(KIAA0586):c.411-4A>G
NM_001329943.3(KIAA0586):c.4114T>C (p.Leu1372=)
NM_001329943.3(KIAA0586):c.4122A>G (p.Gln1374=)
NM_001329943.3(KIAA0586):c.4168+13A>G rs375052904
NM_001329943.3(KIAA0586):c.4168+8C>A rs1331278032
NM_001329943.3(KIAA0586):c.4206A>C (p.Pro1402=) rs369935221
NM_001329943.3(KIAA0586):c.4275A>G (p.Ala1425=)
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4305C>T (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4323+12A>G
NM_001329943.3(KIAA0586):c.4324-11A>T
NM_001329943.3(KIAA0586):c.4324-16A>G rs376320678
NM_001329943.3(KIAA0586):c.4324-6A>G
NM_001329943.3(KIAA0586):c.4329A>G (p.Gln1443=) rs2141479527
NM_001329943.3(KIAA0586):c.4332A>G (p.Leu1444=) rs2141479570
NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=)
NM_001329943.3(KIAA0586):c.4386A>G (p.Leu1462=)
NM_001329943.3(KIAA0586):c.4392T>A (p.Val1464=)
NM_001329943.3(KIAA0586):c.4398T>C (p.Asn1466=)
NM_001329943.3(KIAA0586):c.4429+11T>A
NM_001329943.3(KIAA0586):c.4429+16A>G
NM_001329943.3(KIAA0586):c.4429+17T>C
NM_001329943.3(KIAA0586):c.4430-15T>A rs1212572767
NM_001329943.3(KIAA0586):c.4430-15T>C
NM_001329943.3(KIAA0586):c.4437A>G (p.Pro1479=) rs780867053
NM_001329943.3(KIAA0586):c.447A>G (p.Val149=)
NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)
NM_001329943.3(KIAA0586):c.4495+12A>G rs2140098467
NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del
NM_001329943.3(KIAA0586):c.4495+3729T>C
NM_001329943.3(KIAA0586):c.4495+3730T>G
NM_001329943.3(KIAA0586):c.4495+3732T>A
NM_001329943.3(KIAA0586):c.4495+3737T>G
NM_001329943.3(KIAA0586):c.4495+3796G>T
NM_001329943.3(KIAA0586):c.4495+7T>C
NM_001329943.3(KIAA0586):c.4496-17G>A
NM_001329943.3(KIAA0586):c.4496-3794A>G
NM_001329943.3(KIAA0586):c.4496-3799A>G
NM_001329943.3(KIAA0586):c.4496-3803T>G
NM_001329943.3(KIAA0586):c.4496-3816C>T
NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)
NM_001329943.3(KIAA0586):c.4505C>T (p.Ala1502Val) rs2140156164
NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe)
NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu)
NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=)
NM_001329943.3(KIAA0586):c.4595G>A (p.Ser1532Asn) rs2047081237
NM_001329943.3(KIAA0586):c.4616A>G (p.Asp1539Gly)
NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=)
NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=)
NM_001329943.3(KIAA0586):c.576G>T (p.Pro192=)
NM_001329943.3(KIAA0586):c.585+17_585+29del
NM_001329943.3(KIAA0586):c.586-16G>T
NM_001329943.3(KIAA0586):c.586-17T>C
NM_001329943.3(KIAA0586):c.586-4T>G
NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=)
NM_001329943.3(KIAA0586):c.642A>G (p.Leu214=)
NM_001329943.3(KIAA0586):c.729C>T (p.His243=) rs774888789
NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu) rs577258273
NM_001329943.3(KIAA0586):c.786A>G (p.Gln262=) rs1487078229
NM_001329943.3(KIAA0586):c.807+10A>C rs368833496
NM_001329943.3(KIAA0586):c.807+12A>G
NM_001329943.3(KIAA0586):c.807+19G>C
NM_001329943.3(KIAA0586):c.807+8del rs2140568510
NM_001329943.3(KIAA0586):c.807+9A>G rs2140568561
NM_001329943.3(KIAA0586):c.808-13T>G rs1364907790
NM_001329943.3(KIAA0586):c.808-20A>C
NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=)
NM_001329943.3(KIAA0586):c.852T>C (p.Pro284=) rs2140662420
NM_001329943.3(KIAA0586):c.891C>A (p.Ser297=)
NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)
NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=)
NM_001329943.3(KIAA0586):c.961+11G>T
NM_001329943.3(KIAA0586):c.962-14A>C rs200528557
NM_001329943.3(KIAA0586):c.962-19A>T
NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=)
NM_001382391.1(CSPP1):c.-10-13T>A
NM_001382391.1(CSPP1):c.-10-20A>G
NM_001382391.1(CSPP1):c.-10-5T>A rs770289522
NM_001382391.1(CSPP1):c.-103C>T rs202181896
NM_001382391.1(CSPP1):c.-106C>T rs2129538421
NM_001382391.1(CSPP1):c.-121A>C
NM_001382391.1(CSPP1):c.-139G>C
NM_001382391.1(CSPP1):c.-36C>T
NM_001382391.1(CSPP1):c.-43A>C
NM_001382391.1(CSPP1):c.-45_-42del rs762530713
NM_001382391.1(CSPP1):c.-73G>C
NM_001382391.1(CSPP1):c.-85T>C rs2129538434
NM_001382391.1(CSPP1):c.-91G>A rs200332502
NM_001382391.1(CSPP1):c.-94A>G rs1382795214
NM_001382391.1(CSPP1):c.100-11G>A
NM_001382391.1(CSPP1):c.100-12T>C
NM_001382391.1(CSPP1):c.1023-14C>T
NM_001382391.1(CSPP1):c.1023-16G>A
NM_001382391.1(CSPP1):c.1023-16_1023-13del
NM_001382391.1(CSPP1):c.1023-4T>G
NM_001382391.1(CSPP1):c.1023-9T>A
NM_001382391.1(CSPP1):c.1029A>T (p.Pro343=)
NM_001382391.1(CSPP1):c.106T>C (p.Leu36=)
NM_001382391.1(CSPP1):c.1093+16C>A
NM_001382391.1(CSPP1):c.1093+16C>G
NM_001382391.1(CSPP1):c.1093+17del rs2129547787
NM_001382391.1(CSPP1):c.1094-6A>G
NM_001382391.1(CSPP1):c.1131G>A (p.Glu377=)
NM_001382391.1(CSPP1):c.114G>A (p.Ala38=) rs566786304
NM_001382391.1(CSPP1):c.1187+19T>A
NM_001382391.1(CSPP1):c.1187+7A>G
NM_001382391.1(CSPP1):c.1188-15T>G
NM_001382391.1(CSPP1):c.1188-20A>C
NM_001382391.1(CSPP1):c.1188-5T>A
NM_001382391.1(CSPP1):c.1218G>A (p.Ala406=)
NM_001382391.1(CSPP1):c.123T>G (p.Ser41=) rs775044108
NM_001382391.1(CSPP1):c.1245+14del rs760948267
NM_001382391.1(CSPP1):c.1245+22_1245+36del rs754206451
NM_001382391.1(CSPP1):c.1245+7G>A
NM_001382391.1(CSPP1):c.126A>G (p.Glu42=) rs1283210787
NM_001382391.1(CSPP1):c.1288-11_1288-8del
NM_001382391.1(CSPP1):c.1288-12T>C
NM_001382391.1(CSPP1):c.1288-12del
NM_001382391.1(CSPP1):c.1317A>C (p.Ala439=)
NM_001382391.1(CSPP1):c.1320A>G (p.Pro440=) rs1817847996
NM_001382391.1(CSPP1):c.1359A>G (p.Arg453=)
NM_001382391.1(CSPP1):c.1395C>A (p.Ala465=)
NM_001382391.1(CSPP1):c.1410C>T (p.Pro470=)
NM_001382391.1(CSPP1):c.1497-6A>G
NM_001382391.1(CSPP1):c.1497-8T>C
NM_001382391.1(CSPP1):c.1515A>G (p.Pro505=) rs2129551348
NM_001382391.1(CSPP1):c.1521C>G (p.Pro507=)
NM_001382391.1(CSPP1):c.1554T>G (p.Thr518=) rs1818326006
NM_001382391.1(CSPP1):c.1569A>T (p.Ala523=) rs2129551359
NM_001382391.1(CSPP1):c.1599C>T (p.Phe533=)
NM_001382391.1(CSPP1):c.1618+12A>G rs368578567
NM_001382391.1(CSPP1):c.1618+15G>T
NM_001382391.1(CSPP1):c.1618+20A>C rs756484052
NM_001382391.1(CSPP1):c.1618+8A>G
NM_001382391.1(CSPP1):c.1619-13T>C
NM_001382391.1(CSPP1):c.1619-8T>C rs2129551458
NM_001382391.1(CSPP1):c.162C>T (p.Asn54=)
NM_001382391.1(CSPP1):c.1638C>T (p.Gly546=) rs1470629361
NM_001382391.1(CSPP1):c.1677C>T (p.His559=)
NM_001382391.1(CSPP1):c.1697+5_1697+16dup
NM_001382391.1(CSPP1):c.1698-12T>C
NM_001382391.1(CSPP1):c.1698-13_1698-12del
NM_001382391.1(CSPP1):c.1698-4G>C
NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=)
NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=)
NM_001382391.1(CSPP1):c.1722G>A (p.Leu574=)
NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=)
NM_001382391.1(CSPP1):c.1764T>C (p.Phe588=)
NM_001382391.1(CSPP1):c.1806C>T (p.Tyr602=) rs1036498137
NM_001382391.1(CSPP1):c.1828-11A>G
NM_001382391.1(CSPP1):c.1872A>G (p.Lys624=) rs1822589349
NM_001382391.1(CSPP1):c.1911A>T (p.Thr637=) rs561521861
NM_001382391.1(CSPP1):c.1975+18A>C
NM_001382391.1(CSPP1):c.1976-20G>A
NM_001382391.1(CSPP1):c.1989G>A (p.Arg663=)
NM_001382391.1(CSPP1):c.199+14T>A rs2129541674
NM_001382391.1(CSPP1):c.200-13_200-11del rs766452341
NM_001382391.1(CSPP1):c.200-13del
NM_001382391.1(CSPP1):c.200-18_200-16del
NM_001382391.1(CSPP1):c.200-5T>C
NM_001382391.1(CSPP1):c.2037A>T (p.Thr679=)
NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=)
NM_001382391.1(CSPP1):c.2094T>C (p.Ala698=) rs2129558010
NM_001382391.1(CSPP1):c.2101C>T (p.Leu701=)
NM_001382391.1(CSPP1):c.2103A>G (p.Leu701=)
NM_001382391.1(CSPP1):c.2121A>G (p.Lys707=) rs1375950004
NM_001382391.1(CSPP1):c.2124C>T (p.Ser708=)
NM_001382391.1(CSPP1):c.2128+11A>C
NM_001382391.1(CSPP1):c.2128+23_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+24_2128+36del
NM_001382391.1(CSPP1):c.2128+7_2128+25del rs2129558020
NM_001382391.1(CSPP1):c.2129-4C>G
NM_001382391.1(CSPP1):c.214T>C (p.Leu72=) rs887024306
NM_001382391.1(CSPP1):c.2184T>C (p.Pro728=)
NM_001382391.1(CSPP1):c.2199G>A (p.Gln733=) rs1826220671
NM_001382391.1(CSPP1):c.2241+15G>A
NM_001382391.1(CSPP1):c.2241+19A>C
NM_001382391.1(CSPP1):c.2241+20_2241+25del rs2129559087
NM_001382391.1(CSPP1):c.2242-13T>C
NM_001382391.1(CSPP1):c.2242-18_2242-15del rs747115433
NM_001382391.1(CSPP1):c.228T>C (p.Leu76=)
NM_001382391.1(CSPP1):c.2295A>G (p.Ala765=)
NM_001382391.1(CSPP1):c.2301A>G (p.Glu767=) rs2129560136
NM_001382391.1(CSPP1):c.2316G>A (p.Arg772=) rs1827105533
NM_001382391.1(CSPP1):c.2322A>G (p.Ala774=) rs2129560142
NM_001382391.1(CSPP1):c.2343G>A (p.Gln781=) rs2129560155
NM_001382391.1(CSPP1):c.2346G>A (p.Gln782=) rs754878483
NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=)
NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=)
NM_001382391.1(CSPP1):c.2392-12T>G rs1322610870
NM_001382391.1(CSPP1):c.2392-17_2392-12del rs763447128
NM_001382391.1(CSPP1):c.2392-8T>C
NM_001382391.1(CSPP1):c.2421G>A (p.Arg807=) rs1209655756
NM_001382391.1(CSPP1):c.2481T>C (p.Tyr827=) rs1312436989
NM_001382391.1(CSPP1):c.2499C>T (p.His833=)
NM_001382391.1(CSPP1):c.2514C>T (p.Asp838=)
NM_001382391.1(CSPP1):c.2523T>C (p.Ile841=)
NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=)
NM_001382391.1(CSPP1):c.2529A>G (p.Glu843=)
NM_001382391.1(CSPP1):c.252A>G (p.Lys84=)
NM_001382391.1(CSPP1):c.2538+13C>A
NM_001382391.1(CSPP1):c.2538+18A>G
NM_001382391.1(CSPP1):c.2538+19T>C
NM_001382391.1(CSPP1):c.2538+20G>A
NM_001382391.1(CSPP1):c.2539-13_2539-4del rs753606187
NM_001382391.1(CSPP1):c.2539-8T>A
NM_001382391.1(CSPP1):c.2580C>T (p.Asn860=)
NM_001382391.1(CSPP1):c.2589A>G (p.Ala863=)
NM_001382391.1(CSPP1):c.2631T>C (p.Arg877=)
NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=)
NM_001382391.1(CSPP1):c.2643+11T>C
NM_001382391.1(CSPP1):c.2643+16T>A
NM_001382391.1(CSPP1):c.2644-11T>C
NM_001382391.1(CSPP1):c.2644-12A>G rs2129562431
NM_001382391.1(CSPP1):c.2644-15A>C
NM_001382391.1(CSPP1):c.2644-18G>C
NM_001382391.1(CSPP1):c.2685C>G (p.Ala895=) rs2129562477
NM_001382391.1(CSPP1):c.2688G>A (p.Arg896=) rs2129562485
NM_001382391.1(CSPP1):c.2697G>A (p.Gln899=)
NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=)
NM_001382391.1(CSPP1):c.2711-13T>C
NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=)
NM_001382391.1(CSPP1):c.274C>A (p.Arg92=)
NM_001382391.1(CSPP1):c.2763T>C (p.Arg921=) rs2129562840
NM_001382391.1(CSPP1):c.2781A>G (p.Leu927=)
NM_001382391.1(CSPP1):c.2791T>C (p.Leu931=)
NM_001382391.1(CSPP1):c.2796A>G (p.Leu932=)
NM_001382391.1(CSPP1):c.2828+16C>A rs749065903
NM_001382391.1(CSPP1):c.2828+20T>A rs2129562857
NM_001382391.1(CSPP1):c.2829-7T>C
NM_001382391.1(CSPP1):c.2829-8A>G
NM_001382391.1(CSPP1):c.2832A>G (p.Lys944=)
NM_001382391.1(CSPP1):c.2835G>A (p.Lys945=)
NM_001382391.1(CSPP1):c.2862T>C (p.Asp954=) rs1586718478
NM_001382391.1(CSPP1):c.291T>C (p.Arg97=)
NM_001382391.1(CSPP1):c.2943T>C (p.His981=)
NM_001382391.1(CSPP1):c.2969-19A>G
NM_001382391.1(CSPP1):c.2969-8T>A
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=) rs1831352053
NM_001382391.1(CSPP1):c.30A>G (p.Glu10=)
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=)
NM_001382391.1(CSPP1):c.3110-7A>G rs1832018947
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=)
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=)
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=)
NM_001382391.1(CSPP1):c.3157-19del rs1446937196
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=)
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=)
NM_001382391.1(CSPP1):c.3220+13_3220+16del
NM_001382391.1(CSPP1):c.3220+8T>C
NM_001382391.1(CSPP1):c.3221-10G>A
NM_001382391.1(CSPP1):c.3221-5C>T
NM_001382391.1(CSPP1):c.3221-9T>A rs753184305
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=)
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=) rs1442543547
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=)
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=) rs2129575182
NM_001382391.1(CSPP1):c.3330+13C>A
NM_001382391.1(CSPP1):c.3330+13C>T
NM_001382391.1(CSPP1):c.3330+19T>A
NM_001382391.1(CSPP1):c.3330+20C>T
NM_001382391.1(CSPP1):c.3331-10C>T rs774609234
NM_001382391.1(CSPP1):c.3331-7A>C rs2129575934
NM_001382391.1(CSPP1):c.3331-8A>G
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=)
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=)
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=) rs2129575946
NM_001382391.1(CSPP1):c.33G>A (p.Glu11=) rs1327593032
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg) rs546683385
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=) rs747965774
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=) rs2129575969
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=)
NM_001382391.1(CSPP1):c.3469+10C>T
NM_001382391.1(CSPP1):c.3470-12T>C
NM_001382391.1(CSPP1):c.3470-16C>T
NM_001382391.1(CSPP1):c.3470-20G>A
NM_001382391.1(CSPP1):c.3470-4G>A
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=)
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=)
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=) rs2129576649
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=) rs760969187
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=)
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=) rs2129576668
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=)
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=)
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=)
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=)
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=) rs2129576686
NM_001382391.1(CSPP1):c.385-12T>A
NM_001382391.1(CSPP1):c.417C>T (p.Tyr139=)
NM_001382391.1(CSPP1):c.42C>T (p.Ala14=)
NM_001382391.1(CSPP1):c.441A>G (p.Glu147=)
NM_001382391.1(CSPP1):c.468G>C (p.Val156=)
NM_001382391.1(CSPP1):c.486C>A (p.Pro162=)
NM_001382391.1(CSPP1):c.489G>A (p.Lys163=) rs1479574918
NM_001382391.1(CSPP1):c.496A>C (p.Arg166=) rs2129545446
NM_001382391.1(CSPP1):c.532C>T (p.Leu178=) rs2129545457
NM_001382391.1(CSPP1):c.549G>A (p.Gln183=)
NM_001382391.1(CSPP1):c.579A>G (p.Arg193=)
NM_001382391.1(CSPP1):c.633A>G (p.Arg211=)
NM_001382391.1(CSPP1):c.63A>C (p.Ala21=)
NM_001382391.1(CSPP1):c.672C>T (p.Ile224=)
NM_001382391.1(CSPP1):c.741A>G (p.Gln247=)
NM_001382391.1(CSPP1):c.750A>G (p.Ala250=)
NM_001382391.1(CSPP1):c.768A>G (p.Pro256=)
NM_001382391.1(CSPP1):c.789T>C (p.Phe263=) rs2129545515
NM_001382391.1(CSPP1):c.816G>A (p.Arg272=)
NM_001382391.1(CSPP1):c.816G>T (p.Arg272=)
NM_001382391.1(CSPP1):c.81A>T (p.Pro27=) rs1271272185
NM_001382391.1(CSPP1):c.876T>C (p.Tyr292=) rs2129545545
NM_001382391.1(CSPP1):c.903G>A (p.Ser301=)
NM_001382391.1(CSPP1):c.923+25_923+29del rs2129545562
NM_001382391.1(CSPP1):c.930C>T (p.His310=)
NM_016464.5(TMEM138):c.105T>C (p.Pro35=) rs1370730016
NM_016464.5(TMEM138):c.128+19T>G
NM_016464.5(TMEM138):c.129-10A>G
NM_016464.5(TMEM138):c.129-10dup rs2135157730
NM_016464.5(TMEM138):c.129-19C>T rs2135157682
NM_016464.5(TMEM138):c.12C>T (p.Thr4=) rs376500080
NM_016464.5(TMEM138):c.195C>T (p.Val65=) rs2135158008
NM_016464.5(TMEM138):c.204T>C (p.Ala68=) rs2135158047
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
NM_016464.5(TMEM138):c.231G>A (p.Lys77=) rs2135158146
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
NM_016464.5(TMEM138):c.288T>C (p.His96=)
NM_016464.5(TMEM138):c.300+13G>A rs2135158448
NM_016464.5(TMEM138):c.301-12C>T
NM_016464.5(TMEM138):c.301-13A>G
NM_016464.5(TMEM138):c.301-16C>T
NM_016464.5(TMEM138):c.301-18A>G
NM_016464.5(TMEM138):c.303C>T (p.Asn101=) rs2135162983
NM_016464.5(TMEM138):c.377-11C>T rs749034092
NM_016464.5(TMEM138):c.377-19T>C
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
NM_016464.5(TMEM138):c.435C>T (p.His145=)
NM_016464.5(TMEM138):c.459G>A (p.Leu153=)
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)
NM_018718.3(CEP41):c.102C>T (p.Asn34=) rs781793746
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
NM_018718.3(CEP41):c.1062C>T (p.Ala354=) rs782552317
NM_018718.3(CEP41):c.1080C>T (p.Arg360=) rs782746850
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
NM_018718.3(CEP41):c.145+16G>C
NM_018718.3(CEP41):c.145+16G>T rs2117627031
NM_018718.3(CEP41):c.145+7A>G
NM_018718.3(CEP41):c.146-13C>T rs782677555
NM_018718.3(CEP41):c.146-9A>G rs372039618
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
NM_018718.3(CEP41):c.208-5A>T
NM_018718.3(CEP41):c.208-6T>C
NM_018718.3(CEP41):c.208-7C>G rs782769113
NM_018718.3(CEP41):c.208-7C>T rs782769113
NM_018718.3(CEP41):c.258G>A (p.Glu86=) rs1309424611
NM_018718.3(CEP41):c.277+10del rs782128369
NM_018718.3(CEP41):c.277+17G>A
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-9A>C
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
NM_018718.3(CEP41):c.33+10A>G
NM_018718.3(CEP41):c.33+16C>T
NM_018718.3(CEP41):c.33+20C>A
NM_018718.3(CEP41):c.34-14del
NM_018718.3(CEP41):c.34-17A>G
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
NM_018718.3(CEP41):c.411A>G (p.Ser137=) rs1796949890
NM_018718.3(CEP41):c.423-4G>T rs1554417330
NM_018718.3(CEP41):c.423-9C>G
NM_018718.3(CEP41):c.438T>G (p.Val146=)
NM_018718.3(CEP41):c.468G>A (p.Val156=) rs1796891578
NM_018718.3(CEP41):c.513C>T (p.Cys171=) rs922629262
NM_018718.3(CEP41):c.574+7G>C
NM_018718.3(CEP41):c.575-19C>T
NM_018718.3(CEP41):c.643-16del rs2117556026
NM_018718.3(CEP41):c.643-7C>G
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
NM_018718.3(CEP41):c.705G>T (p.Ala235=) rs149052906
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
NM_018718.3(CEP41):c.757+16C>T
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
NM_018718.3(CEP41):c.831C>T (p.Ala277=) rs782120276
NM_018718.3(CEP41):c.867C>T (p.Pro289=) rs782385841
NM_018718.3(CEP41):c.954A>G (p.Gln318=) rs2117551629
NM_018718.3(CEP41):c.97+12T>G
NM_018718.3(CEP41):c.973+16C>A rs2117551370
NM_018718.3(CEP41):c.973+8del rs2117551461
NM_018718.3(CEP41):c.974-11G>T
NM_018718.3(CEP41):c.974-14C>T
NM_018718.3(CEP41):c.974-19TCTT[3]
NM_018718.3(CEP41):c.98-20A>G
NM_018718.3(CEP41):c.98-8C>A rs782606521
NM_018718.3(CEP41):c.98-8C>T
NM_018718.3(CEP41):c.999C>T (p.Ser333=)

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