ClinVar Miner

List of variants reported as likely benign for Joubert syndrome; Meckel-Gruber syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3134
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00648
NM_024809.5(TCTN2):c.1505+3G>C rs111574617 0.00377
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr) rs148773489 0.00266
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987 0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00209
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg) rs114568905 0.00194
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_017777.4(MKS1):c.12C>T (p.Thr4=) rs372471169 0.00160
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00155
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163 0.00152
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) rs201894544 0.00146
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) rs139067427 0.00146
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) rs370336923 0.00108
NM_015272.5(RPGRIP1L):c.3701+19A>C rs199926524 0.00099
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027 0.00092
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432 0.00089
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00079
NM_015681.6(B9D1):c.568A>T (p.Thr190Ser) rs147684440 0.00078
NM_015272.5(RPGRIP1L):c.3300C>T (p.Leu1100=) rs190706759 0.00076
NM_015272.5(RPGRIP1L):c.3313G>A (p.Gly1105Arg) rs528501990 0.00070
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892 0.00068
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 0.00067
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00066
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331 0.00063
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln) rs200707391 0.00061
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00057
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332 0.00051
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 0.00051
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 0.00050
NM_015681.6(B9D1):c.567T>C (p.Asp189=) rs776039881 0.00049
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) rs368907353 0.00048
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr) rs919333754 0.00043
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154 0.00039
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00036
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907 0.00036
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00034
NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val) rs143515432 0.00034
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_030578.4(B9D2):c.88+17G>C rs371803094 0.00033
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00031
NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg) rs147499316 0.00031
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) rs182369056 0.00029
NM_015272.5(RPGRIP1L):c.165G>A (p.Leu55=) rs138048667 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser) rs145236803 0.00029
NM_001082538.3(TCTN1):c.1038C>T (p.Phe346=) rs377300877 0.00028
NM_024809.5(TCTN2):c.612C>T (p.Thr204=) rs761526808 0.00028
NM_001082538.3(TCTN1):c.1635+11C>T rs369922174 0.00027
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202 0.00027
NM_017777.4(MKS1):c.80+14C>T rs761061379 0.00027
NM_030578.4(B9D2):c.336G>A (p.Thr112=) rs139072904 0.00027
NM_153704.6(TMEM67):c.2439+17C>T rs375852558 0.00027
NM_001378615.1(CC2D2A):c.3976-18C>G rs375782772 0.00026
NM_001378615.1(CC2D2A):c.4315-13T>C rs377685137 0.00026
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=) rs11860753 0.00026
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met) rs369476930 0.00025
NM_015272.5(RPGRIP1L):c.3702-16A>G rs372739127 0.00025
NM_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=) rs144924117 0.00025
NM_015681.6(B9D1):c.360C>T (p.Pro120=) rs139682891 0.00025
NM_001082538.3(TCTN1):c.570A>G (p.Glu190=) rs199584658 0.00024
NM_001082538.3(TCTN1):c.713-9G>T rs201293727 0.00024
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys) rs374554530 0.00024
NM_017777.4(MKS1):c.249G>A (p.Lys83=) rs62636631 0.00024
NM_024809.5(TCTN2):c.1770-20A>G rs538008079 0.00024
NM_030578.4(B9D2):c.151A>C (p.Ile51Leu) rs368393895 0.00024
NM_001378615.1(CC2D2A):c.4675-15G>A rs377573053 0.00023
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00023
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr) rs201299216 0.00022
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_024809.5(TCTN2):c.1827C>T (p.Asp609=) rs150634667 0.00022
NM_001378615.1(CC2D2A):c.2007G>A (p.Ala669=) rs376644970 0.00021
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_001378615.1(CC2D2A):c.2270C>A (p.Ala757Asp) rs377188181 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978 0.00021
NM_024809.5(TCTN2):c.190+17T>C rs369406967 0.00020
NM_001082538.3(TCTN1):c.1383G>A (p.Leu461=) rs377488330 0.00019
NM_001378615.1(CC2D2A):c.2197G>A (p.Gly733Arg) rs372259202 0.00019
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_001378615.1(CC2D2A):c.3280C>G (p.Leu1094Val) rs200518703 0.00019
NM_015681.6(B9D1):c.369C>A (p.Val123=) rs138240520 0.00019
NM_017777.4(MKS1):c.1176G>A (p.Pro392=) rs775169308 0.00019
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129 0.00018
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
NM_001378615.1(CC2D2A):c.4815T>C (p.Asn1605=) rs370146822 0.00017
NM_015272.5(RPGRIP1L):c.3221-19C>T rs372929131 0.00017
NM_001082538.3(TCTN1):c.1359C>T (p.Leu453=) rs200935044 0.00016
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=) rs140241814 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_017777.4(MKS1):c.351G>A (p.Ser117=) rs370781583 0.00016
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) rs371608031 0.00015
NM_001378615.1(CC2D2A):c.718-10C>T rs182383712 0.00015
NM_015272.5(RPGRIP1L):c.612C>T (p.Ala204=) rs373750629 0.00015
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00015
NM_001082538.3(TCTN1):c.1671C>A (p.Ser557=) rs200067409 0.00014
NM_001378615.1(CC2D2A):c.123+19C>T rs142821756 0.00014
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_001378615.1(CC2D2A):c.423T>C (p.Thr141=) rs368572539 0.00014
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_017777.4(MKS1):c.199C>T (p.Arg67Cys) rs200340896 0.00014
NM_024809.5(TCTN2):c.1394-20A>G rs372424469 0.00014
NM_030578.4(B9D2):c.224G>A (p.Arg75Gln) rs148087680 0.00014
NM_153704.6(TMEM67):c.1131+19A>C rs747877982 0.00014
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=) rs371066430 0.00013
NM_001378615.1(CC2D2A):c.3744G>T (p.Leu1248=) rs755747140 0.00013
NM_015272.5(RPGRIP1L):c.2874+8T>C rs371853408 0.00013
NM_015272.5(RPGRIP1L):c.960G>A (p.Gln320=) rs148808566 0.00013
NM_017777.4(MKS1):c.1128G>A (p.Thr376=) rs369141016 0.00013
NM_017777.4(MKS1):c.903C>T (p.Thr301=) rs142805406 0.00013
NM_153704.6(TMEM67):c.192T>C (p.Pro64=) rs150383995 0.00013
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile) rs200329273 0.00013
NM_153704.6(TMEM67):c.869+9A>G rs372597584 0.00013
NM_001082538.3(TCTN1):c.823-6A>G rs377230085 0.00012
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524 0.00012
NM_001378615.1(CC2D2A):c.4334G>A (p.Arg1445Gln) rs113065116 0.00012
NM_001378615.1(CC2D2A):c.865C>A (p.Pro289Thr) rs371405756 0.00012
NM_017777.4(MKS1):c.515+8C>T rs376823839 0.00012
NM_017777.4(MKS1):c.959-4G>A rs201137386 0.00012
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344 0.00012
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682 0.00012
NM_001378615.1(CC2D2A):c.1359+10A>G rs373012628 0.00011
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=) rs768337150 0.00011
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216 0.00011
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val) rs137878385 0.00011
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00011
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=) rs556542553 0.00011
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val) rs768733110 0.00011
NM_015272.5(RPGRIP1L):c.1029+10C>A rs542635220 0.00011
NM_015681.6(B9D1):c.479G>A (p.Arg160His) rs538949071 0.00011
NM_017777.4(MKS1):c.1287G>A (p.Leu429=) rs555977738 0.00011
NM_017777.4(MKS1):c.1605C>G (p.Ala535=) rs35493987 0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_017777.4(MKS1):c.1653G>C (p.Val551=) rs34092089 0.00011
NM_153704.6(TMEM67):c.312+13T>C rs748077984 0.00011
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=) rs756341605 0.00010
NM_001378615.1(CC2D2A):c.2595C>T (p.Pro865=) rs770469717 0.00010
NM_001378615.1(CC2D2A):c.3972T>C (p.Thr1324=) rs201357637 0.00010
NM_001378615.1(CC2D2A):c.4303G>A (p.Gly1435Ser) rs56265649 0.00010
NM_001378615.1(CC2D2A):c.4818T>C (p.Val1606=) rs373897309 0.00010
NM_015272.5(RPGRIP1L):c.2898A>G (p.Gln966=) rs1349302634 0.00010
NM_001378615.1(CC2D2A):c.2182-8G>A rs370731685 0.00009
NM_001378615.1(CC2D2A):c.2476G>A (p.Gly826Arg) rs201946793 0.00009
NM_001378615.1(CC2D2A):c.3157A>G (p.Ile1053Val) rs148194457 0.00009
NM_001378615.1(CC2D2A):c.4314+12C>T rs775304664 0.00009
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=) rs200434902 0.00009
NM_001378615.1(CC2D2A):c.881-8C>T rs114387988 0.00009
NM_015272.5(RPGRIP1L):c.111G>A (p.Lys37=) rs774172381 0.00009
NM_015272.5(RPGRIP1L):c.2683+7C>T rs768922800 0.00009
NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly) rs547718820 0.00009
NM_017777.4(MKS1):c.1338G>A (p.Arg446=) rs1179924577 0.00009
NM_017777.4(MKS1):c.516-10T>C rs375046501 0.00009
NM_153704.6(TMEM67):c.1066-16T>C rs759040072 0.00009
NM_153704.6(TMEM67):c.978+19A>G rs575288126 0.00009
NM_001378615.1(CC2D2A):c.2003+15C>T rs780860390 0.00008
NM_001378615.1(CC2D2A):c.2441T>C (p.Ile814Thr) rs369305472 0.00008
NM_001378615.1(CC2D2A):c.847A>C (p.Arg283=) rs201649290 0.00008
NM_017777.4(MKS1):c.323G>A (p.Arg108His) rs200331553 0.00008
NM_017777.4(MKS1):c.759G>A (p.Thr253=) rs770140009 0.00008
NM_024809.5(TCTN2):c.669G>A (p.Thr223=) rs199981419 0.00008
NM_153704.6(TMEM67):c.1002T>A (p.Ala334=) rs1397933745 0.00008
NM_001378615.1(CC2D2A):c.1341G>A (p.Ala447=) rs376651324 0.00007
NM_001378615.1(CC2D2A):c.2016G>A (p.Ser672=) rs369398469 0.00007
NM_001378615.1(CC2D2A):c.2192C>T (p.Thr731Ile) rs758339439 0.00007
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln) rs375243763 0.00007
NM_001378615.1(CC2D2A):c.2843G>A (p.Arg948Gln) rs532411276 0.00007
NM_001378615.1(CC2D2A):c.286G>A (p.Ala96Thr) rs376438052 0.00007
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=) rs375278294 0.00007
NM_001378615.1(CC2D2A):c.3772-4G>A rs369928983 0.00007
NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=) rs762143074 0.00007
NM_001378615.1(CC2D2A):c.4518A>G (p.Glu1506=) rs772272007 0.00007
NM_001378615.1(CC2D2A):c.949G>A (p.Gly317Arg) rs188018643 0.00007
NM_017777.4(MKS1):c.1134A>G (p.Glu378=) rs77365082 0.00007
NM_017777.4(MKS1):c.468C>T (p.Val156=) rs199684837 0.00007
NM_024809.5(TCTN2):c.564+3A>C rs761089886 0.00007
NM_153704.6(TMEM67):c.1674+14A>T rs769381574 0.00007
NM_153704.6(TMEM67):c.2508T>A (p.Ser836=) rs748566666 0.00007
NM_153704.6(TMEM67):c.2907+9T>C rs372865972 0.00007
NM_153704.6(TMEM67):c.69C>T (p.Thr23=) rs745801674 0.00007
NM_001082538.3(TCTN1):c.672G>A (p.Ser224=) rs763386832 0.00006
NM_001082538.3(TCTN1):c.823-17G>C rs751328170 0.00006
NM_001082538.3(TCTN1):c.939C>T (p.Asn313=) rs375034561 0.00006
NM_001378615.1(CC2D2A):c.123+12C>A rs547389759 0.00006
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=) rs755367503 0.00006
NM_001378615.1(CC2D2A):c.2004-12C>A rs141372003 0.00006
NM_001378615.1(CC2D2A):c.3381A>G (p.Glu1127=) rs373780145 0.00006
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) rs375247004 0.00006
NM_015272.5(RPGRIP1L):c.1071T>A (p.Leu357=) rs549925964 0.00006
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=) rs149464542 0.00006
NM_017777.4(MKS1):c.644+10G>A rs544053540 0.00006
NM_017777.4(MKS1):c.673C>T (p.Leu225=) rs370632053 0.00006
NM_017777.4(MKS1):c.70T>C (p.Leu24=) rs538371478 0.00006
NM_017777.4(MKS1):c.729G>A (p.Thr243=) rs373491923 0.00006
NM_017777.4(MKS1):c.894C>T (p.Leu298=) rs754839039 0.00006
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr) rs372235872 0.00006
NM_024809.5(TCTN2):c.1914A>G (p.Thr638=) rs769763960 0.00006
NM_024809.5(TCTN2):c.764+19G>A rs371865300 0.00006
NM_153704.6(TMEM67):c.1131+13G>A rs545053602 0.00006
NM_153704.6(TMEM67):c.1961-19A>G rs996724179 0.00006
NM_153704.6(TMEM67):c.2175T>C (p.Ala725=) rs368159329 0.00006
NM_153704.6(TMEM67):c.279T>C (p.Pro93=) rs199900812 0.00006
NM_153704.6(TMEM67):c.510C>T (p.Cys170=) rs754191151 0.00006
NM_153704.6(TMEM67):c.652-13T>C rs376654537 0.00006
NM_153704.6(TMEM67):c.717A>G (p.Val239=) rs111991507 0.00006
NM_001082538.3(TCTN1):c.162C>T (p.Pro54=) rs751912758 0.00005
NM_001082538.3(TCTN1):c.285C>T (p.Pro95=) rs199664343 0.00005
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr) rs199529768 0.00005
NM_001378615.1(CC2D2A):c.1038T>C (p.Asp346=) rs377679382 0.00005
NM_001378615.1(CC2D2A):c.1193G>A (p.Gly398Glu) rs200429882 0.00005
NM_001378615.1(CC2D2A):c.1268G>A (p.Arg423Gln) rs780924556 0.00005
NM_001378615.1(CC2D2A):c.1360-11G>A rs181633376 0.00005
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=) rs199909714 0.00005
NM_001378615.1(CC2D2A):c.2829+18del rs565325559 0.00005
NM_001378615.1(CC2D2A):c.282C>T (p.Gly94=) rs182119485 0.00005
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=) rs753770061 0.00005
NM_001378615.1(CC2D2A):c.3618T>A (p.Asp1206Glu) rs766400907 0.00005
NM_001378615.1(CC2D2A):c.4065+18A>G rs1158211426 0.00005
NM_001378615.1(CC2D2A):c.845A>C (p.Glu282Ala) rs760099299 0.00005
NM_015272.5(RPGRIP1L):c.1244-18G>A rs923409583 0.00005
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) rs143189638 0.00005
NM_015272.5(RPGRIP1L):c.3701+14G>A rs370009233 0.00005
NM_015272.5(RPGRIP1L):c.883-7C>A rs372349467 0.00005
NM_015681.6(B9D1):c.33C>T (p.Leu11=) rs751480715 0.00005
NM_015681.6(B9D1):c.404+11T>C rs376444573 0.00005
NM_017777.4(MKS1):c.1273+7G>A rs569463908 0.00005
NM_017777.4(MKS1):c.1506G>A (p.Ser502=) rs368535131 0.00005
NM_017777.4(MKS1):c.498G>T (p.Arg166=) rs778956664 0.00005
NM_024809.5(TCTN2):c.1312+17C>T rs369063661 0.00005
NM_024809.5(TCTN2):c.1389A>G (p.Gln463=) rs759294568 0.00005
NM_024809.5(TCTN2):c.191-19G>A rs910463610 0.00005
NM_024809.5(TCTN2):c.468C>T (p.Asn156=) rs771396774 0.00005
NM_030578.4(B9D2):c.89-15C>T rs371483684 0.00005
NM_153704.6(TMEM67):c.1263A>G (p.Gln421=) rs562251879 0.00005
NM_153704.6(TMEM67):c.2598T>G (p.Thr866=) rs776258357 0.00005
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) rs369812327 0.00005
NM_153704.6(TMEM67):c.869+17T>A rs767408748 0.00005
NM_001082538.3(TCTN1):c.822+18G>C rs367638462 0.00004
NM_001082538.3(TCTN1):c.864C>T (p.Ser288=) rs759380913 0.00004
NM_001082538.3(TCTN1):c.927G>A (p.Pro309=) rs777373658 0.00004
NM_001378615.1(CC2D2A):c.1895A>C (p.Gln632Pro) rs777510836 0.00004
NM_001378615.1(CC2D2A):c.2090T>C (p.Val697Ala) rs766282869 0.00004
NM_001378615.1(CC2D2A):c.2339-15C>G rs763052758 0.00004
NM_001378615.1(CC2D2A):c.2626-11G>A rs756555172 0.00004
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=) rs779304750 0.00004
NM_001378615.1(CC2D2A):c.4116G>A (p.Leu1372=) rs766991790 0.00004
NM_001378615.1(CC2D2A):c.415T>C (p.Leu139=) rs570078140 0.00004
NM_015272.5(RPGRIP1L):c.1699+11T>C rs189805541 0.00004
NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=) rs145807002 0.00004
NM_015272.5(RPGRIP1L):c.2683+15T>C rs749282849 0.00004
NM_015272.5(RPGRIP1L):c.3061-18G>A rs1231406468 0.00004
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=) rs989489575 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015272.5(RPGRIP1L):c.3903C>T (p.Ala1301=) rs773361667 0.00004
NM_017777.4(MKS1):c.114T>C (p.Phe38=) rs375861391 0.00004
NM_017777.4(MKS1):c.1274-4G>A rs377033778 0.00004
NM_017777.4(MKS1):c.261+20C>A rs370117635 0.00004
NM_017777.4(MKS1):c.417+17G>C rs780446139 0.00004
NM_017777.4(MKS1):c.822G>A (p.Pro274=) rs375557871 0.00004
NM_024809.5(TCTN2):c.1116C>T (p.Asn372=) rs755934212 0.00004
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=) rs543166165 0.00004
NM_024809.5(TCTN2):c.1572C>T (p.Ser524=) rs367689968 0.00004
NM_024809.5(TCTN2):c.1612+11C>T rs376075139 0.00004
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126 0.00004
NM_024809.5(TCTN2):c.273G>A (p.Val91=) rs375065995 0.00004
NM_024809.5(TCTN2):c.465G>A (p.Glu155=) rs150583279 0.00004
NM_024809.5(TCTN2):c.83-16T>G rs1223559773 0.00004
NM_024809.5(TCTN2):c.960C>T (p.Cys320=) rs145332333 0.00004
NM_030578.4(B9D2):c.309G>A (p.Pro103=) rs201735642 0.00004
NM_030578.4(B9D2):c.495C>T (p.Leu165=) rs542445852 0.00004
NM_153704.6(TMEM67):c.1412+19A>G rs757870971 0.00004
NM_153704.6(TMEM67):c.1413-12T>G rs369870113 0.00004
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177 0.00004
NM_153704.6(TMEM67):c.174C>T (p.Ser58=) rs151047825 0.00004
NM_153704.6(TMEM67):c.1773+10T>C rs371485093 0.00004
NM_153704.6(TMEM67):c.1860+14G>T rs369727716 0.00004
NM_153704.6(TMEM67):c.261C>T (p.Ile87=) rs190249177 0.00004
NM_153704.6(TMEM67):c.2765-12T>A rs1232793342 0.00004
NM_153704.6(TMEM67):c.313-19T>C rs748779738 0.00004
NM_153704.6(TMEM67):c.507-16T>C rs367547273 0.00004
NM_001082538.3(TCTN1):c.1050A>G (p.Thr350=) rs1009528937 0.00003
NM_001082538.3(TCTN1):c.1059C>T (p.Ser353=) rs370906446 0.00003
NM_001082538.3(TCTN1):c.1095T>C (p.His365=) rs767963074 0.00003
NM_001082538.3(TCTN1):c.1119A>T (p.Pro373=) rs2136135794 0.00003
NM_001082538.3(TCTN1):c.1350G>A (p.Pro450=) rs781366326 0.00003
NM_001082538.3(TCTN1):c.1494+10A>G rs749682297 0.00003
NM_001082538.3(TCTN1):c.21G>T (p.Pro7=) rs760813360 0.00003
NM_001082538.3(TCTN1):c.264C>T (p.Asp88=) rs373685803 0.00003
NM_001082538.3(TCTN1):c.473-20_473-19del rs762957362 0.00003
NM_001082538.3(TCTN1):c.559T>C (p.Leu187=) rs376935369 0.00003
NM_001082538.3(TCTN1):c.612T>A (p.Ala204=) rs983405128 0.00003
NM_001082538.3(TCTN1):c.714G>A (p.Ala238=) rs200574241 0.00003
NM_001082538.3(TCTN1):c.810G>A (p.Pro270=) rs771664440 0.00003
NM_001082538.3(TCTN1):c.817C>T (p.Leu273=) rs775207770 0.00003
NM_001378615.1(CC2D2A):c.1092G>A (p.Pro364=) rs774216288 0.00003
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg) rs760839591 0.00003
NM_001378615.1(CC2D2A):c.1422C>T (p.Leu474=) rs377448964 0.00003
NM_001378615.1(CC2D2A):c.1506T>C (p.Asp502=) rs765072025 0.00003
NM_001378615.1(CC2D2A):c.1546A>G (p.Met516Val) rs751646059 0.00003
NM_001378615.1(CC2D2A):c.1728G>A (p.Thr576=) rs373277928 0.00003
NM_001378615.1(CC2D2A):c.192G>A (p.Val64=) rs745986665 0.00003
NM_001378615.1(CC2D2A):c.2061G>A (p.Leu687=) rs182372139 0.00003
NM_001378615.1(CC2D2A):c.2083A>C (p.Arg695=) rs750219979 0.00003
NM_001378615.1(CC2D2A):c.2181+17T>C rs1016233369 0.00003
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=) rs1379770755 0.00003
NM_001378615.1(CC2D2A):c.2338+14A>G rs368466056 0.00003
NM_001378615.1(CC2D2A):c.2387T>G (p.Met796Arg) rs367560550 0.00003
NM_001378615.1(CC2D2A):c.2431G>A (p.Glu811Lys) rs201303853 0.00003
NM_001378615.1(CC2D2A):c.243A>G (p.Pro81=) rs766042434 0.00003
NM_001378615.1(CC2D2A):c.2922+14T>C rs375756726 0.00003
NM_001378615.1(CC2D2A):c.2922+16T>C rs767460385 0.00003
NM_001378615.1(CC2D2A):c.2922+20A>G rs768708348 0.00003
NM_001378615.1(CC2D2A):c.2923-5C>T rs758867115 0.00003
NM_001378615.1(CC2D2A):c.3084G>C (p.Arg1028=) rs373698524 0.00003
NM_001378615.1(CC2D2A):c.3153C>T (p.Tyr1051=) rs373671064 0.00003
NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly) rs765661601 0.00003
NM_001378615.1(CC2D2A):c.3653G>A (p.Arg1218Gln) rs1052251029 0.00003
NM_001378615.1(CC2D2A):c.388C>T (p.Arg130Cys) rs886042463 0.00003
NM_001378615.1(CC2D2A):c.3975+19A>G rs758410900 0.00003
NM_001378615.1(CC2D2A):c.4194T>C (p.Tyr1398=) rs752902174 0.00003
NM_001378615.1(CC2D2A):c.439-13T>G rs1305181844 0.00003
NM_001378615.1(CC2D2A):c.4452T>A (p.Ile1484=) rs373762896 0.00003
NM_001378615.1(CC2D2A):c.4850T>C (p.Ile1617Thr) rs371868705 0.00003
NM_001378615.1(CC2D2A):c.518G>A (p.Arg173Gln) rs745699870 0.00003
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val) rs200044412 0.00003
NM_001378615.1(CC2D2A):c.837G>A (p.Leu279=) rs771694343 0.00003
NM_001378615.1(CC2D2A):c.948C>T (p.Thr316=) rs201439700 0.00003
NM_015272.5(RPGRIP1L):c.1029+12A>G rs374781718 0.00003
NM_015272.5(RPGRIP1L):c.1029+19T>C rs370612492 0.00003
NM_015272.5(RPGRIP1L):c.1103+15C>T rs1442888085 0.00003
NM_015272.5(RPGRIP1L):c.1103+7C>T rs761579460 0.00003
NM_015272.5(RPGRIP1L):c.1104-13G>A rs775179294 0.00003
NM_015272.5(RPGRIP1L):c.1104-14C>T rs763897513 0.00003
NM_015272.5(RPGRIP1L):c.1244-19T>C rs752471471 0.00003
NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=) rs376335724 0.00003
NM_015272.5(RPGRIP1L):c.1351-7A>G rs559918716 0.00003
NM_015272.5(RPGRIP1L):c.1375T>C (p.Leu459=) rs766752672 0.00003
NM_015272.5(RPGRIP1L):c.1582-11T>G rs182981308 0.00003
NM_015272.5(RPGRIP1L):c.2103C>T (p.His701=) rs540930741 0.00003
NM_015272.5(RPGRIP1L):c.2262G>A (p.Gly754=) rs775616241 0.00003
NM_015272.5(RPGRIP1L):c.2397C>T (p.Cys799=) rs758547965 0.00003
NM_015272.5(RPGRIP1L):c.2403C>T (p.His801=) rs1390109484 0.00003
NM_015272.5(RPGRIP1L):c.2875-19A>G rs370091137 0.00003
NM_015272.5(RPGRIP1L):c.3294+11T>C rs767032223 0.00003
NM_015272.5(RPGRIP1L):c.3363G>A (p.Pro1121=) rs1269019830 0.00003
NM_015272.5(RPGRIP1L):c.3433-8T>G rs757913656 0.00003
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=) rs762140481 0.00003
NM_015272.5(RPGRIP1L):c.3701+20A>G rs775275758 0.00003
NM_015272.5(RPGRIP1L):c.529+17G>A rs754295905 0.00003
NM_015272.5(RPGRIP1L):c.530-7T>C rs780569188 0.00003
NM_015272.5(RPGRIP1L):c.759G>A (p.Gln253=) rs1430647199 0.00003
NM_015272.5(RPGRIP1L):c.840T>C (p.Asn280=) rs781135802 0.00003
NM_015681.6(B9D1):c.245-20C>T rs767764163 0.00003
NM_015681.6(B9D1):c.264C>T (p.Ser88=) rs146218883 0.00003
NM_015681.6(B9D1):c.333A>T (p.Ser111=) rs771617247 0.00003
NM_015681.6(B9D1):c.381G>A (p.Thr127=) rs755165652 0.00003
NM_017777.4(MKS1):c.1024+10A>G rs749001732 0.00003
NM_017777.4(MKS1):c.1095+18G>A rs371273226 0.00003
NM_017777.4(MKS1):c.1095+19G>A rs200731008 0.00003
NM_017777.4(MKS1):c.1260G>A (p.Leu420=) rs749099410 0.00003
NM_017777.4(MKS1):c.1274-5C>T rs762686385 0.00003
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met) rs367625961 0.00003
NM_017777.4(MKS1):c.1408-15A>G rs762989365 0.00003
NM_017777.4(MKS1):c.252C>G (p.Leu84=) rs969699321 0.00003
NM_017777.4(MKS1):c.30C>T (p.Thr10=) rs576239597 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_017777.4(MKS1):c.543C>T (p.Ile181=) rs1156392394 0.00003
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_017777.4(MKS1):c.821C>T (p.Pro274Leu) rs770088105 0.00003
NM_017777.4(MKS1):c.958+13C>G rs375090244 0.00003
NM_024809.5(TCTN2):c.1008G>A (p.Ala336=) rs370103460 0.00003
NM_024809.5(TCTN2):c.1099+10G>A rs751385319 0.00003
NM_024809.5(TCTN2):c.1440T>C (p.Phe480=) rs760942775 0.00003
NM_024809.5(TCTN2):c.1641C>T (p.Asp547=) rs555666775 0.00003
NM_024809.5(TCTN2):c.1950G>A (p.Pro650=) rs774741153 0.00003
NM_024809.5(TCTN2):c.444T>C (p.Ser148=) rs771060074 0.00003
NM_024809.5(TCTN2):c.630C>T (p.Asp210=) rs560269152 0.00003
NM_024809.5(TCTN2):c.83-9C>G rs775671051 0.00003
NM_030578.4(B9D2):c.516C>T (p.Gly172=) rs141578342 0.00003
NM_153704.6(TMEM67):c.1131+12C>T rs755150914 0.00003
NM_153704.6(TMEM67):c.1412+18G>T rs771301847 0.00003
NM_153704.6(TMEM67):c.1576-10T>C rs1464558705 0.00003
NM_153704.6(TMEM67):c.1671A>G (p.Leu557=) rs375402551 0.00003
NM_153704.6(TMEM67):c.1774-19C>G rs780507751 0.00003
NM_153704.6(TMEM67):c.1983C>T (p.Ala661=) rs1297734907 0.00003
NM_153704.6(TMEM67):c.2208T>C (p.Ser736=) rs1436606444 0.00003
NM_153704.6(TMEM67):c.223+13G>C rs762188098 0.00003
NM_153704.6(TMEM67):c.2427T>G (p.Leu809=) rs150658618 0.00003
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738 0.00003
NM_153704.6(TMEM67):c.37G>A (p.Val13Ile) rs561584664 0.00003
NM_153704.6(TMEM67):c.390C>T (p.Pro130=) rs1291015693 0.00003
NM_153704.6(TMEM67):c.429A>T (p.Thr143=) rs917693730 0.00003
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr) rs748221725 0.00003
NM_153704.6(TMEM67):c.652-16A>G rs569346767 0.00003
NM_153704.6(TMEM67):c.978+13A>G rs760659884 0.00003
NM_001082538.3(TCTN1):c.1167T>A (p.Ala389=) rs754192411 0.00002
NM_001082538.3(TCTN1):c.1287C>T (p.Thr429=) rs746097128 0.00002
NM_001082538.3(TCTN1):c.1494+20G>A rs1024500142 0.00002
NM_001082538.3(TCTN1):c.1740T>C (p.Asn580=) rs376626018 0.00002
NM_001082538.3(TCTN1):c.237C>G (p.Val79=) rs374598052 0.00002
NM_001082538.3(TCTN1):c.396A>C (p.Thr132=) rs767437498 0.00002
NM_001082538.3(TCTN1):c.472+14_472+15del rs769917896 0.00002
NM_001082538.3(TCTN1):c.597G>T (p.Leu199=) rs950880140 0.00002
NM_001082538.3(TCTN1):c.954C>T (p.Ser318=) rs372535670 0.00002
NM_001378615.1(CC2D2A):c.1000T>C (p.Leu334=) rs780534369 0.00002
NM_001378615.1(CC2D2A):c.1140G>A (p.Leu380=) rs373742688 0.00002
NM_001378615.1(CC2D2A):c.1360-9C>T rs763775026 0.00002
NM_001378615.1(CC2D2A):c.1431C>A (p.Ile477=) rs2474955172 0.00002
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=) rs368116362 0.00002
NM_001378615.1(CC2D2A):c.1701C>T (p.Tyr567=) rs769840882 0.00002
NM_001378615.1(CC2D2A):c.1722C>T (p.Tyr574=) rs201451230 0.00002
NM_001378615.1(CC2D2A):c.1809C>T (p.Pro603=) rs778968413 0.00002
NM_001378615.1(CC2D2A):c.1872C>T (p.Pro624=) rs367939394 0.00002
NM_001378615.1(CC2D2A):c.2003+16G>A rs746051826 0.00002
NM_001378615.1(CC2D2A):c.2088A>G (p.Thr696=) rs760615867 0.00002
NM_001378615.1(CC2D2A):c.2154C>T (p.Val718=) rs781557649 0.00002
NM_001378615.1(CC2D2A):c.2286G>A (p.Val762=) rs1204225662 0.00002
NM_001378615.1(CC2D2A):c.2289G>A (p.Glu763=) rs769073033 0.00002
NM_001378615.1(CC2D2A):c.2310G>C (p.Val770=) rs751676654 0.00002
NM_001378615.1(CC2D2A):c.2338+16A>G rs777390329 0.00002
NM_001378615.1(CC2D2A):c.2385G>C (p.Leu795=) rs754272410 0.00002
NM_001378615.1(CC2D2A):c.2409T>C (p.His803=) rs780868022 0.00002
NM_001378615.1(CC2D2A):c.2436C>T (p.Asn812=) rs200973968 0.00002
NM_001378615.1(CC2D2A):c.248-8T>C rs755438390 0.00002
NM_001378615.1(CC2D2A):c.2625+12_2625+13insTCA rs762800172 0.00002
NM_001378615.1(CC2D2A):c.2625+15_2625+24del rs770791139 0.00002
NM_001378615.1(CC2D2A):c.2626-12C>T rs571780110 0.00002
NM_001378615.1(CC2D2A):c.2673G>A (p.Glu891=) rs758977410 0.00002
NM_001378615.1(CC2D2A):c.2830-18G>A rs969121617 0.00002
NM_001378615.1(CC2D2A):c.2895G>A (p.Arg965=) rs1189706886 0.00002
NM_001378615.1(CC2D2A):c.2904A>T (p.Val968=) rs1457559560 0.00002
NM_001378615.1(CC2D2A):c.3015-11G>A rs757678311 0.00002
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=) rs377575861 0.00002
NM_001378615.1(CC2D2A):c.3114T>C (p.Asp1038=) rs781371086 0.00002
NM_001378615.1(CC2D2A):c.3132G>A (p.Leu1044=) rs929422473 0.00002
NM_001378615.1(CC2D2A):c.3183-17T>C rs961448334 0.00002
NM_001378615.1(CC2D2A):c.3288+12T>A rs781021291 0.00002
NM_001378615.1(CC2D2A):c.336+17G>A rs778148568 0.00002
NM_001378615.1(CC2D2A):c.3595-11T>A rs1476484459 0.00002
NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324 0.00002
NM_001378615.1(CC2D2A):c.3771+11A>C rs955623216 0.00002
NM_001378615.1(CC2D2A):c.3780T>A (p.Ser1260=) rs765284788 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.4065+8G>A rs778816692 0.00002
NM_001378615.1(CC2D2A):c.4080C>T (p.Leu1360=) rs777093551 0.00002
NM_001378615.1(CC2D2A):c.4326T>C (p.Asn1442=) rs780298185 0.00002
NM_001378615.1(CC2D2A):c.4437+8T>A rs775286779 0.00002
NM_001378615.1(CC2D2A):c.4811A>G (p.Lys1604Arg) rs779340568 0.00002
NM_001378615.1(CC2D2A):c.648G>A (p.Ala216=) rs1415780433 0.00002
NM_001378615.1(CC2D2A):c.840G>A (p.Gln280=) rs2474921239 0.00002
NM_001378615.1(CC2D2A):c.891T>C (p.Tyr297=) rs797045438 0.00002
NM_001378615.1(CC2D2A):c.898C>T (p.Leu300Phe) rs779150444 0.00002
NM_015272.5(RPGRIP1L):c.1335A>T (p.Ile445=) rs778962353 0.00002
NM_015272.5(RPGRIP1L):c.1392A>G (p.Leu464=) rs773395675 0.00002
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=) rs966605945 0.00002
NM_015272.5(RPGRIP1L):c.1881A>G (p.Lys627=) rs774731949 0.00002
NM_015272.5(RPGRIP1L):c.201T>C (p.His67=) rs762755851 0.00002
NM_015272.5(RPGRIP1L):c.2121C>T (p.Ser707=) rs771201854 0.00002
NM_015272.5(RPGRIP1L):c.230+17T>C rs1341706376 0.00002
NM_015272.5(RPGRIP1L):c.231-13A>G rs1030566201 0.00002
NM_015272.5(RPGRIP1L):c.231-15T>G rs762320051 0.00002
NM_015272.5(RPGRIP1L):c.231-4C>A rs774628905 0.00002
NM_015272.5(RPGRIP1L):c.2442T>C (p.Tyr814=) rs770299101 0.00002
NM_015272.5(RPGRIP1L):c.2684-7T>C rs745815763 0.00002
NM_015272.5(RPGRIP1L):c.2757T>C (p.Ala919=) rs758167588 0.00002
NM_015272.5(RPGRIP1L):c.2814C>T (p.Ser938=) rs192512050 0.00002
NM_015272.5(RPGRIP1L):c.2850A>G (p.Ala950=) rs752095514 0.00002
NM_015272.5(RPGRIP1L):c.2875-15G>T rs749908163 0.00002
NM_015272.5(RPGRIP1L):c.3141A>C (p.Leu1047=) rs1313737236 0.00002
NM_015272.5(RPGRIP1L):c.3221-7T>C rs1170674790 0.00002
NM_015272.5(RPGRIP1L):c.3294+13A>G rs756969381 0.00002
NM_015272.5(RPGRIP1L):c.3324C>T (p.Cys1108=) rs1402604190 0.00002
NM_015272.5(RPGRIP1L):c.3714C>T (p.Thr1238=) rs538306358 0.00002
NM_015272.5(RPGRIP1L):c.3777C>T (p.His1259=) rs750716320 0.00002
NM_015272.5(RPGRIP1L):c.529+16C>T rs765320880 0.00002
NM_015272.5(RPGRIP1L):c.654A>G (p.Gln218=) rs1404574894 0.00002
NM_015272.5(RPGRIP1L):c.882+8G>A rs773501615 0.00002
NM_015681.6(B9D1):c.244+19T>G rs886038622 0.00002
NM_017777.4(MKS1):c.1233T>C (p.Arg411=) rs201128765 0.00002
NM_017777.4(MKS1):c.1273+12T>A rs762439479 0.00002
NM_017777.4(MKS1):c.1284C>T (p.Thr428=) rs761247194 0.00002
NM_017777.4(MKS1):c.1392A>T (p.Ile464=) rs1160063124 0.00002
NM_017777.4(MKS1):c.190+12G>A rs1310865080 0.00002
NM_017777.4(MKS1):c.210A>G (p.Glu70=) rs778759498 0.00002
NM_017777.4(MKS1):c.279C>T (p.Tyr93=) rs187870415 0.00002
NM_017777.4(MKS1):c.515+13A>G rs1170743615 0.00002
NM_017777.4(MKS1):c.644+9C>T rs754404940 0.00002
NM_017777.4(MKS1):c.792G>A (p.Thr264=) rs1272905094 0.00002
NM_017777.4(MKS1):c.858+19C>T rs367750788 0.00002
NM_017777.4(MKS1):c.858+7G>A rs918270665 0.00002
NM_017777.4(MKS1):c.918T>C (p.Thr306=) rs373269341 0.00002
NM_017777.4(MKS1):c.993C>T (p.Tyr331=) rs552668070 0.00002
NM_024809.5(TCTN2):c.1449T>C (p.Asn483=) rs556937993 0.00002
NM_024809.5(TCTN2):c.1725G>A (p.Ala575=) rs145483549 0.00002
NM_024809.5(TCTN2):c.1896-14A>G rs1325047020 0.00002
NM_024809.5(TCTN2):c.191-15G>A rs780792228 0.00002
NM_024809.5(TCTN2):c.2034C>T (p.Phe678=) rs375061429 0.00002
NM_024809.5(TCTN2):c.246C>T (p.Ser82=) rs552719113 0.00002
NM_024809.5(TCTN2):c.642T>C (p.Pro214=) rs747382089 0.00002
NM_024809.5(TCTN2):c.687C>T (p.Pro229=) rs752840193 0.00002
NM_024809.5(TCTN2):c.957A>G (p.Lys319=) rs1331215787 0.00002
NM_024809.5(TCTN2):c.978A>G (p.Leu326=) rs921429450 0.00002
NM_153704.6(TMEM67):c.1299T>G (p.Ser433=) rs373065772 0.00002
NM_153704.6(TMEM67):c.1836T>C (p.Tyr612=) rs767820112 0.00002
NM_153704.6(TMEM67):c.1860+19G>A rs373634556 0.00002
NM_153704.6(TMEM67):c.1961-20C>A rs150209047 0.00002
NM_153704.6(TMEM67):c.2199T>C (p.Tyr733=) rs774835190 0.00002
NM_153704.6(TMEM67):c.237A>G (p.Val79=) rs772881100 0.00002
NM_153704.6(TMEM67):c.2532C>T (p.Asp844=) rs771098362 0.00002
NM_153704.6(TMEM67):c.2907+14A>T rs760694612 0.00002
NM_153704.6(TMEM67):c.312+19A>T rs777205068 0.00002
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=) rs966581270 0.00002
NM_153704.6(TMEM67):c.979-15G>A rs536582676 0.00002
NM_153704.6(TMEM67):c.979-16C>T rs757127826 0.00002
NM_001082538.3(TCTN1):c.1104+14A>G rs903859274 0.00001
NM_001082538.3(TCTN1):c.1149C>T (p.Val383=) rs759588884 0.00001
NM_001082538.3(TCTN1):c.1209C>T (p.Thr403=) rs1195048348 0.00001
NM_001082538.3(TCTN1):c.1233T>A (p.Thr411=) rs1295181158 0.00001
NM_001082538.3(TCTN1):c.1332-17C>A rs763909645 0.00001
NM_001082538.3(TCTN1):c.1425A>C (p.Gly475=) rs1369980150 0.00001
NM_001082538.3(TCTN1):c.1452C>T (p.Asp484=) rs2067208566 0.00001
NM_001082538.3(TCTN1):c.1467C>T (p.His489=) rs748187759 0.00001
NM_001082538.3(TCTN1):c.1479G>A (p.Gln493=) rs1244591905 0.00001
NM_001082538.3(TCTN1):c.1494+9G>A rs778390452 0.00001
NM_001082538.3(TCTN1):c.1623C>T (p.Ser541=) rs2067393633 0.00001
NM_001082538.3(TCTN1):c.1636-16T>G rs750945485 0.00001
NM_001082538.3(TCTN1):c.1636-5T>C rs1250840241 0.00001
NM_001082538.3(TCTN1):c.1656G>A (p.Arg552=) rs1248295755 0.00001
NM_001082538.3(TCTN1):c.1659G>A (p.Thr553=) rs777278093 0.00001
NM_001082538.3(TCTN1):c.1731A>G (p.Pro577=) rs748758027 0.00001
NM_001082538.3(TCTN1):c.1749G>T (p.Leu583=) rs1228988444 0.00001
NM_001082538.3(TCTN1):c.18C>G (p.Leu6=) rs1302105164 0.00001
NM_001082538.3(TCTN1):c.220+12dup rs1426313803 0.00001
NM_001082538.3(TCTN1):c.297C>T (p.Ser99=) rs199654159 0.00001
NM_001082538.3(TCTN1):c.341+20A>T rs577724884 0.00001
NM_001082538.3(TCTN1):c.342-17del rs1263671097 0.00001
NM_001082538.3(TCTN1):c.342-19T>C rs2065840091 0.00001
NM_001082538.3(TCTN1):c.472+15T>C rs2065852243 0.00001
NM_001082538.3(TCTN1):c.472+18A>G rs1462503484 0.00001
NM_001082538.3(TCTN1):c.473-9A>T rs766470328 0.00001
NM_001082538.3(TCTN1):c.532T>C (p.Leu178=) rs1417449106 0.00001
NM_001082538.3(TCTN1):c.54C>T (p.Ala18=) rs758668268 0.00001
NM_001082538.3(TCTN1):c.57C>T (p.Ser19=) rs779892252 0.00001
NM_001082538.3(TCTN1):c.654G>A (p.Ser218=) rs776715588 0.00001
NM_001082538.3(TCTN1):c.705C>T (p.Asn235=) rs752181429 0.00001
NM_001082538.3(TCTN1):c.823-13T>C rs756432423 0.00001
NM_001082538.3(TCTN1):c.823-4C>G rs754017886 0.00001
NM_001082538.3(TCTN1):c.846C>G (p.Val282=) rs368536784 0.00001
NM_001082538.3(TCTN1):c.858T>G (p.Val286=) rs770733945 0.00001
NM_001082538.3(TCTN1):c.933C>T (p.Leu311=) rs748696458 0.00001
NM_001082538.3(TCTN1):c.978+10G>A rs557580380 0.00001
NM_001378615.1(CC2D2A):c.1018-11T>C rs200340261 0.00001
NM_001378615.1(CC2D2A):c.1018-12C>T rs375602687 0.00001
NM_001378615.1(CC2D2A):c.1057C>T (p.Leu353=) rs1365896129 0.00001
NM_001378615.1(CC2D2A):c.108G>A (p.Gln36=) rs886044284 0.00001
NM_001378615.1(CC2D2A):c.1098A>T (p.Val366=) rs2474926814 0.00001
NM_001378615.1(CC2D2A):c.1101A>G (p.Leu367=) rs199637863 0.00001
NM_001378615.1(CC2D2A):c.1123G>C (p.Ala375Pro) rs759668652 0.00001
NM_001378615.1(CC2D2A):c.1149+19C>A rs755795036 0.00001
NM_001378615.1(CC2D2A):c.1150-13C>G rs1208588531 0.00001
NM_001378615.1(CC2D2A):c.1150-15dup rs772993372 0.00001
NM_001378615.1(CC2D2A):c.1150-4G>A rs956757805 0.00001
NM_001378615.1(CC2D2A):c.1161C>T (p.Tyr387=) rs1717568150 0.00001
NM_001378615.1(CC2D2A):c.1209T>C (p.Asn403=) rs764983506 0.00001
NM_001378615.1(CC2D2A):c.123+16A>G rs768395829 0.00001
NM_001378615.1(CC2D2A):c.124-9T>C rs1055025520 0.00001
NM_001378615.1(CC2D2A):c.1299G>A (p.Gln433=) rs1717581475 0.00001
NM_001378615.1(CC2D2A):c.1359+14C>A rs376667684 0.00001
NM_001378615.1(CC2D2A):c.1360-13A>G rs1311322428 0.00001
NM_001378615.1(CC2D2A):c.1360-8G>A rs773826994 0.00001
NM_001378615.1(CC2D2A):c.1466+13T>C rs1717647319 0.00001
NM_001378615.1(CC2D2A):c.1467-11A>G rs1157377528 0.00001
NM_001378615.1(CC2D2A):c.1467-21_1467-20del rs752418674 0.00001
NM_001378615.1(CC2D2A):c.1515G>A (p.Leu505=) rs1188194101 0.00001
NM_001378615.1(CC2D2A):c.1524T>C (p.Thr508=) rs1183201879 0.00001
NM_001378615.1(CC2D2A):c.1536T>C (p.Val512=) rs1182295220 0.00001
NM_001378615.1(CC2D2A):c.1598T>C (p.Val533Ala) rs777351655 0.00001
NM_001378615.1(CC2D2A):c.1607+19T>G rs1323263827 0.00001
NM_001378615.1(CC2D2A):c.1638A>G (p.Glu546=) rs1718163321 0.00001
NM_001378615.1(CC2D2A):c.1677G>C (p.Leu559=) rs1560170993 0.00001
NM_001378615.1(CC2D2A):c.1692G>A (p.Thr564=) rs377375002 0.00001
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr) rs368669579 0.00001
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu) rs543650388 0.00001
NM_001378615.1(CC2D2A):c.174C>T (p.Gly58=) rs778135028 0.00001
NM_001378615.1(CC2D2A):c.177C>T (p.Asn59=) rs1001847837 0.00001
NM_001378615.1(CC2D2A):c.1797A>G (p.Ala599=) rs750037478 0.00001
NM_001378615.1(CC2D2A):c.1812T>A (p.Gly604=) rs771792420 0.00001
NM_001378615.1(CC2D2A):c.1836C>T (p.Pro612=) rs763567590 0.00001
NM_001378615.1(CC2D2A):c.1858A>G (p.Ser620Gly) rs760215716 0.00001
NM_001378615.1(CC2D2A):c.1863T>G (p.Pro621=) rs1325653391 0.00001
NM_001378615.1(CC2D2A):c.1927A>C (p.Arg643=) rs1048216556 0.00001
NM_001378615.1(CC2D2A):c.1977C>T (p.Ser659=) rs2109035405 0.00001
NM_001378615.1(CC2D2A):c.2003+14C>T rs2474979708 0.00001
NM_001378615.1(CC2D2A):c.2003+20G>A rs375933217 0.00001
NM_001378615.1(CC2D2A):c.2010G>A (p.Glu670=) rs763596840 0.00001
NM_001378615.1(CC2D2A):c.201G>A (p.Glu67=) rs1714586913 0.00001
NM_001378615.1(CC2D2A):c.2049C>T (p.Tyr683=) rs1289857244 0.00001
NM_001378615.1(CC2D2A):c.2103A>G (p.Leu701=) rs1236071005 0.00001
NM_001378615.1(CC2D2A):c.2115C>T (p.Phe705=) rs371259065 0.00001
NM_001378615.1(CC2D2A):c.2175A>G (p.Thr725=) rs376380045 0.00001
NM_001378615.1(CC2D2A):c.2181+20T>C rs1006081856 0.00001
NM_001378615.1(CC2D2A):c.2184C>T (p.Val728=) rs1718959533 0.00001
NM_001378615.1(CC2D2A):c.2187T>C (p.Tyr729=) rs930302303 0.00001
NM_001378615.1(CC2D2A):c.2196C>T (p.Val732=) rs764246302 0.00001
NM_001378615.1(CC2D2A):c.2277T>C (p.Thr759=) rs886126456 0.00001
NM_001378615.1(CC2D2A):c.2322C>T (p.His774=) rs1412103905 0.00001
NM_001378615.1(CC2D2A):c.2339-5C>T rs764424309 0.00001
NM_001378615.1(CC2D2A):c.2400A>G (p.Lys800=) rs371834330 0.00001
NM_001378615.1(CC2D2A):c.247+8C>T rs1279815589 0.00001
NM_001378615.1(CC2D2A):c.248-15G>A rs756298299 0.00001
NM_001378615.1(CC2D2A):c.2486+17G>C rs778703582 0.00001
NM_001378615.1(CC2D2A):c.2486+18T>C rs1395000705 0.00001
NM_001378615.1(CC2D2A):c.2486+8A>G rs749186859 0.00001
NM_001378615.1(CC2D2A):c.2486+9T>C rs768382177 0.00001
NM_001378615.1(CC2D2A):c.2487-17T>C rs909380640 0.00001
NM_001378615.1(CC2D2A):c.2514A>G (p.Ser838=) rs778174968 0.00001
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe) rs765820512 0.00001
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=) rs886059158 0.00001
NM_001378615.1(CC2D2A):c.2551T>C (p.Leu851=) rs1173794822 0.00001
NM_001378615.1(CC2D2A):c.2580C>T (p.Leu860=) rs955087884 0.00001
NM_001378615.1(CC2D2A):c.2625+14G>A rs753388257 0.00001
NM_001378615.1(CC2D2A):c.2625+19A>G rs1387735671 0.00001
NM_001378615.1(CC2D2A):c.2625+7A>G rs1280335267 0.00001
NM_001378615.1(CC2D2A):c.2626-18A>G rs202145851 0.00001
NM_001378615.1(CC2D2A):c.2626-4A>G rs1324716207 0.00001
NM_001378615.1(CC2D2A):c.2634C>A (p.Thr878=) rs1263391498 0.00001
NM_001378615.1(CC2D2A):c.2640T>C (p.Gly880=) rs774548115 0.00001
NM_001378615.1(CC2D2A):c.2652C>G (p.Val884=) rs944541785 0.00001
NM_001378615.1(CC2D2A):c.279A>G (p.Thr93=) rs987594766 0.00001
NM_001378615.1(CC2D2A):c.2829+15T>C rs1478652275 0.00001
NM_001378615.1(CC2D2A):c.2829+20G>A rs751376075 0.00001
NM_001378615.1(CC2D2A):c.2829+9C>T rs1009676697 0.00001
NM_001378615.1(CC2D2A):c.2859T>C (p.Asn953=) rs1005904017 0.00001
NM_001378615.1(CC2D2A):c.2864T>C (p.Ile955Thr) rs779465688 0.00001
NM_001378615.1(CC2D2A):c.2877A>G (p.Glu959=) rs1560182443 0.00001
NM_001378615.1(CC2D2A):c.2923-13T>C rs940142432 0.00001
NM_001378615.1(CC2D2A):c.2923-9T>C rs753188706 0.00001
NM_001378615.1(CC2D2A):c.2925T>C (p.Val975=) rs778137318 0.00001
NM_001378615.1(CC2D2A):c.2928A>G (p.Arg976=) rs993294783 0.00001
NM_001378615.1(CC2D2A):c.2964A>G (p.Gln988=) rs779641505 0.00001
NM_001378615.1(CC2D2A):c.2982T>C (p.Asp994=) rs1370157323 0.00001
NM_001378615.1(CC2D2A):c.2994A>G (p.Glu998=) rs1044670589 0.00001
NM_001378615.1(CC2D2A):c.3014+11T>C rs760477116 0.00001
NM_001378615.1(CC2D2A):c.3014+16G>A rs576890945 0.00001
NM_001378615.1(CC2D2A):c.3015-5A>G rs754827031 0.00001
NM_001378615.1(CC2D2A):c.3015-9A>C rs1010285962 0.00001
NM_001378615.1(CC2D2A):c.3066G>A (p.Arg1022=) rs2109065234 0.00001
NM_001378615.1(CC2D2A):c.3072G>A (p.Arg1024=) rs886044669 0.00001
NM_001378615.1(CC2D2A):c.3126G>A (p.Lys1042=) rs767804652 0.00001
NM_001378615.1(CC2D2A):c.3144G>A (p.Val1048=) rs1185288924 0.00001
NM_001378615.1(CC2D2A):c.3174G>A (p.Pro1058=) rs769474903 0.00001
NM_001378615.1(CC2D2A):c.3183-5C>T rs763724257 0.00001
NM_001378615.1(CC2D2A):c.3197C>T (p.Pro1066Leu) rs556931817 0.00001
NM_001378615.1(CC2D2A):c.3198G>A (p.Pro1066=) rs970431525 0.00001
NM_001378615.1(CC2D2A):c.3207T>G (p.Ser1069=) rs2475073393 0.00001
NM_001378615.1(CC2D2A):c.3249G>A (p.Thr1083=) rs200431110 0.00001
NM_001378615.1(CC2D2A):c.3267T>C (p.Asn1089=) rs989096775 0.00001
NM_001378615.1(CC2D2A):c.3279C>T (p.Pro1093=) rs1302080963 0.00001
NM_001378615.1(CC2D2A):c.3288+9T>C rs1193481399 0.00001
NM_001378615.1(CC2D2A):c.3289-11_3289-10del rs770737692 0.00001
NM_001378615.1(CC2D2A):c.333G>A (p.Ala111=) rs200273579 0.00001
NM_001378615.1(CC2D2A):c.3342G>A (p.Thr1114=) rs1314498461 0.00001
NM_001378615.1(CC2D2A):c.3348G>A (p.Thr1116=) rs758507321 0.00001
NM_001378615.1(CC2D2A):c.3369C>T (p.Ser1123=) rs371089021 0.00001
NM_001378615.1(CC2D2A):c.337-12T>C rs1467565504 0.00001
NM_001378615.1(CC2D2A):c.337-13T>C rs754124890 0.00001
NM_001378615.1(CC2D2A):c.3398+7A>G rs772784324 0.00001
NM_001378615.1(CC2D2A):c.3398+9A>G rs760244750 0.00001
NM_001378615.1(CC2D2A):c.3399-12G>A rs1372008281 0.00001
NM_001378615.1(CC2D2A):c.3414T>C (p.Asp1138=) rs780482620 0.00001
NM_001378615.1(CC2D2A):c.3417T>C (p.Tyr1139=) rs749549856 0.00001
NM_001378615.1(CC2D2A):c.3471T>C (p.Asp1157=) rs770467923 0.00001
NM_001378615.1(CC2D2A):c.3495+12G>C rs1050609005 0.00001
NM_001378615.1(CC2D2A):c.3495+15T>C rs1158108031 0.00001
NM_001378615.1(CC2D2A):c.3496-11C>G rs1001192465 0.00001
NM_001378615.1(CC2D2A):c.354A>G (p.Ala118=) rs1247636826 0.00001
NM_001378615.1(CC2D2A):c.3595-5C>G rs1720292051 0.00001
NM_001378615.1(CC2D2A):c.363G>A (p.Gln121=) rs1212015185 0.00001
NM_001378615.1(CC2D2A):c.3711C>T (p.Tyr1237=) rs1369118681 0.00001
NM_001378615.1(CC2D2A):c.3732T>C (p.Ile1244=) rs1391730883 0.00001
NM_001378615.1(CC2D2A):c.3771+13A>G rs983458720 0.00001
NM_001378615.1(CC2D2A):c.3772-5_3772-4del rs1484994421 0.00001
NM_001378615.1(CC2D2A):c.3870A>G (p.Val1290=) rs1169769813 0.00001
NM_001378615.1(CC2D2A):c.3873T>C (p.Ile1291=) rs200269652 0.00001
NM_001378615.1(CC2D2A):c.3882C>T (p.Ser1294=) rs775502280 0.00001
NM_001378615.1(CC2D2A):c.39+13_39+15dup rs1714188068 0.00001
NM_001378615.1(CC2D2A):c.39+7G>A rs1389256356 0.00001
NM_001378615.1(CC2D2A):c.39+8G>A rs768894327 0.00001
NM_001378615.1(CC2D2A):c.3976-14T>C rs762197750 0.00001
NM_001378615.1(CC2D2A):c.3984G>A (p.Val1328=) rs368498185 0.00001
NM_001378615.1(CC2D2A):c.3996G>A (p.Val1332=) rs751553707 0.00001
NM_001378615.1(CC2D2A):c.4065+11C>T rs1157149153 0.00001
NM_001378615.1(CC2D2A):c.4065+9T>C rs748709735 0.00001
NM_001378615.1(CC2D2A):c.4066-7T>C rs778478305 0.00001
NM_001378615.1(CC2D2A):c.4155G>A (p.Leu1385=) rs371862849 0.00001
NM_001378615.1(CC2D2A):c.4179+12T>C rs545245087 0.00001
NM_001378615.1(CC2D2A):c.4179+19C>G rs758452526 0.00001
NM_001378615.1(CC2D2A):c.4197G>A (p.Val1399=) rs897543991 0.00001
NM_001378615.1(CC2D2A):c.4200A>G (p.Leu1400=) rs1720998446 0.00001
NM_001378615.1(CC2D2A):c.4287T>C (p.Asn1429=) rs1260505834 0.00001
NM_001378615.1(CC2D2A):c.4290G>A (p.Val1430=) rs1002160335 0.00001
NM_001378615.1(CC2D2A):c.42G>A (p.Glu14=) rs1455738671 0.00001
NM_001378615.1(CC2D2A):c.4314+13A>G rs1445712928 0.00001
NM_001378615.1(CC2D2A):c.4315-8T>C rs370982819 0.00001
NM_001378615.1(CC2D2A):c.438+9T>C rs775606863 0.00001
NM_001378615.1(CC2D2A):c.439-5T>A rs369244755 0.00001
NM_001378615.1(CC2D2A):c.439-9C>T rs747673081 0.00001
NM_001378615.1(CC2D2A):c.4437+13T>C rs1319917789 0.00001
NM_001378615.1(CC2D2A):c.4438-4A>G rs1463104948 0.00001
NM_001378615.1(CC2D2A):c.4438-5T>C rs1019706217 0.00001
NM_001378615.1(CC2D2A):c.4467C>T (p.Asp1489=) rs1229562320 0.00001
NM_001378615.1(CC2D2A):c.4496+12T>G rs754326845 0.00001
NM_001378615.1(CC2D2A):c.4496+20T>G rs1161617684 0.00001
NM_001378615.1(CC2D2A):c.4497-9T>C rs375154355 0.00001
NM_001378615.1(CC2D2A):c.4599G>A (p.Leu1533=) rs556117615 0.00001
NM_001378615.1(CC2D2A):c.4674+13T>C rs1216887028 0.00001
NM_001378615.1(CC2D2A):c.4675-12T>G rs769761582 0.00001
NM_001378615.1(CC2D2A):c.4675-14T>A rs766203266 0.00001
NM_001378615.1(CC2D2A):c.4675-19A>G rs760384221 0.00001
NM_001378615.1(CC2D2A):c.4680T>C (p.Ser1560=) rs752706778 0.00001
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=) rs774919996 0.00001
NM_001378615.1(CC2D2A):c.4740T>C (p.Ser1580=) rs759221177 0.00001
NM_001378615.1(CC2D2A):c.4752T>C (p.His1584=) rs1417736093 0.00001
NM_001378615.1(CC2D2A):c.4763T>C (p.Val1588Ala) rs572716623 0.00001
NM_001378615.1(CC2D2A):c.4819T>C (p.Leu1607=) rs1197953378 0.00001
NM_001378615.1(CC2D2A):c.4836T>C (p.Tyr1612=) rs745525616 0.00001
NM_001378615.1(CC2D2A):c.4848T>G (p.Leu1616=) rs1396115620 0.00001
NM_001378615.1(CC2D2A):c.4862A>G (p.Ter1621=) rs761690020 0.00001
NM_001378615.1(CC2D2A):c.507T>C (p.His169=) rs770874942 0.00001
NM_001378615.1(CC2D2A):c.540+13G>T rs1716494415 0.00001
NM_001378615.1(CC2D2A):c.540+17T>C rs764015812 0.00001
NM_001378615.1(CC2D2A):c.541-6C>T rs757151024 0.00001
NM_001378615.1(CC2D2A):c.558T>C (p.Pro186=) rs1302179878 0.00001
NM_001378615.1(CC2D2A):c.576T>C (p.Tyr192=) rs536646769 0.00001
NM_001378615.1(CC2D2A):c.609A>G (p.Pro203=) rs1339472890 0.00001
NM_001378615.1(CC2D2A):c.707G>A (p.Gly236Glu) rs773437112 0.00001
NM_001378615.1(CC2D2A):c.717+18G>A rs1716565720 0.00001
NM_001378615.1(CC2D2A):c.717+8A>G rs1716564777 0.00001
NM_001378615.1(CC2D2A):c.718-12A>G rs1334874078 0.00001
NM_001378615.1(CC2D2A):c.726A>G (p.Glu242=) rs747125157 0.00001
NM_001378615.1(CC2D2A):c.747T>C (p.Asp249=) rs761409411 0.00001
NM_001378615.1(CC2D2A):c.784G>A (p.Asp262Asn) rs758661538 0.00001
NM_001378615.1(CC2D2A):c.832C>A (p.Arg278=) rs372873919 0.00001
NM_001378615.1(CC2D2A):c.873G>A (p.Arg291=) rs1295547397 0.00001
NM_001378615.1(CC2D2A):c.880+7G>A rs1445614932 0.00001
NM_001378615.1(CC2D2A):c.881-15T>G rs931192060 0.00001
NM_001378615.1(CC2D2A):c.881-6A>G rs1716838067 0.00001
NM_001378615.1(CC2D2A):c.881-7G>A rs1285046479 0.00001
NM_001378615.1(CC2D2A):c.882C>T (p.Val294=) rs1716838310 0.00001
NM_001378615.1(CC2D2A):c.930A>G (p.Glu310=) rs1256968285 0.00001
NM_001378615.1(CC2D2A):c.933T>C (p.Asp311=) rs776175187 0.00001
NM_001378615.1(CC2D2A):c.951G>A (p.Gly317=) rs762984980 0.00001
NM_001378615.1(CC2D2A):c.969A>G (p.Ala323=) rs763921042 0.00001
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His) rs113371687 0.00001
NM_015272.5(RPGRIP1L):c.1029+8C>T rs367844249 0.00001
NM_015272.5(RPGRIP1L):c.1030-15T>G rs2544475497 0.00001
NM_015272.5(RPGRIP1L):c.1030-8C>T rs907172288 0.00001
NM_015272.5(RPGRIP1L):c.1030-9T>C rs779543814 0.00001
NM_015272.5(RPGRIP1L):c.1095T>C (p.Leu365=) rs201763037 0.00001
NM_015272.5(RPGRIP1L):c.1103+18G>C rs373574445 0.00001
NM_015272.5(RPGRIP1L):c.1103+18del rs781191382 0.00001
NM_015272.5(RPGRIP1L):c.1128G>A (p.Glu376=) rs779375492 0.00001
NM_015272.5(RPGRIP1L):c.1155G>C (p.Leu385=) rs536376284 0.00001
NM_015272.5(RPGRIP1L):c.1176C>T (p.Leu392=) rs759115653 0.00001
NM_015272.5(RPGRIP1L):c.1203A>G (p.Thr401=) rs1158246946 0.00001
NM_015272.5(RPGRIP1L):c.1218C>T (p.Ile406=) rs1598357541 0.00001
NM_015272.5(RPGRIP1L):c.1311A>G (p.Gln437=) rs1033613104 0.00001
NM_015272.5(RPGRIP1L):c.1338A>G (p.Lys446=) rs754700219 0.00001
NM_015272.5(RPGRIP1L):c.1350+15T>G rs1967495070 0.00001
NM_015272.5(RPGRIP1L):c.1401+20C>T rs1467459937 0.00001
NM_015272.5(RPGRIP1L):c.1402-13T>G rs940616503 0.00001
NM_015272.5(RPGRIP1L):c.147A>G (p.Glu49=) rs748560707 0.00001
NM_015272.5(RPGRIP1L):c.1581+10T>C rs775724713 0.00001
NM_015272.5(RPGRIP1L):c.1582-7T>G rs887053497 0.00001
NM_015272.5(RPGRIP1L):c.1623G>A (p.Gln541=) rs1178582517 0.00001
NM_015272.5(RPGRIP1L):c.1700-7C>T rs1211017142 0.00001
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=) rs1555604462 0.00001
NM_015272.5(RPGRIP1L):c.1755C>A (p.Ile585=) rs767506927 0.00001
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) rs779429646 0.00001
NM_015272.5(RPGRIP1L):c.1818A>G (p.Leu606=) rs1050535703 0.00001
NM_015272.5(RPGRIP1L):c.1842A>G (p.Val614=) rs781049099 0.00001
NM_015272.5(RPGRIP1L):c.1863A>G (p.Leu621=) rs765009772 0.00001
NM_015272.5(RPGRIP1L):c.1902C>T (p.Thr634=) rs138097384 0.00001
NM_015272.5(RPGRIP1L):c.1950C>T (p.Gly650=) rs371258046 0.00001
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406 0.00001
NM_015272.5(RPGRIP1L):c.2058T>C (p.Tyr686=) rs778885314 0.00001
NM_015272.5(RPGRIP1L):c.2152+19C>G rs754811161 0.00001
NM_015272.5(RPGRIP1L):c.2153-13T>C rs1436077189 0.00001
NM_015272.5(RPGRIP1L):c.2153-6T>C rs371576599 0.00001
NM_015272.5(RPGRIP1L):c.2153-7T>A rs1235183145 0.00001
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) rs768672275 0.00001
NM_015272.5(RPGRIP1L):c.2286G>T (p.Gly762=) rs769599317 0.00001
NM_015272.5(RPGRIP1L):c.230+18T>G rs1342473062 0.00001
NM_015272.5(RPGRIP1L):c.2304+14G>C rs574635809 0.00001
NM_015272.5(RPGRIP1L):c.2316A>G (p.Gln772=) rs1013531093 0.00001
NM_015272.5(RPGRIP1L):c.2334A>G (p.Gln778=) rs1435869251 0.00001
NM_015272.5(RPGRIP1L):c.2337C>T (p.Leu779=) rs1966519480 0.00001
NM_015272.5(RPGRIP1L):c.2364C>T (p.Asn788=) rs746197640 0.00001
NM_015272.5(RPGRIP1L):c.240C>G (p.Thr80=) rs368894452 0.00001
NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=) rs794727193 0.00001
NM_015272.5(RPGRIP1L):c.2454G>A (p.Lys818=) rs747445819 0.00001
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=) rs1598310040 0.00001
NM_015272.5(RPGRIP1L):c.2535A>G (p.Pro845=) rs1357658306 0.00001
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096 0.00001
NM_015272.5(RPGRIP1L):c.2583G>T (p.Leu861=) rs566547156 0.00001
NM_015272.5(RPGRIP1L):c.2586T>C (p.Ser862=) rs771569223 0.00001
NM_015272.5(RPGRIP1L):c.2595T>G (p.Val865=) rs546554009 0.00001
NM_015272.5(RPGRIP1L):c.2613C>A (p.Thr871=) rs748285506 0.00001
NM_015272.5(RPGRIP1L):c.2640C>T (p.Val880=) rs767271797 0.00001
NM_015272.5(RPGRIP1L):c.2649T>C (p.Pro883=) rs1417235196 0.00001
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00001
NM_015272.5(RPGRIP1L):c.2684-14T>A rs915770620 0.00001
NM_015272.5(RPGRIP1L):c.2694G>A (p.Glu898=) rs774787183 0.00001
NM_015272.5(RPGRIP1L):c.2700A>G (p.Thr900=) rs768724944 0.00001
NM_015272.5(RPGRIP1L):c.2709A>G (p.Gln903=) rs1412609114 0.00001
NM_015272.5(RPGRIP1L):c.2718T>C (p.Pro906=) rs1038661631 0.00001
NM_015272.5(RPGRIP1L):c.2817A>G (p.Glu939=) rs1966207157 0.00001
NM_015272.5(RPGRIP1L):c.2841T>C (p.Leu947=) rs556719572 0.00001
NM_015272.5(RPGRIP1L):c.2875-17T>G rs755648829 0.00001
NM_015272.5(RPGRIP1L):c.2877A>G (p.Ala959=) rs753020103 0.00001
NM_015272.5(RPGRIP1L):c.291C>T (p.Gly97=) rs765369037 0.00001
NM_015272.5(RPGRIP1L):c.2931C>T (p.Phe977=) rs761869488 0.00001
NM_015272.5(RPGRIP1L):c.2946A>G (p.Pro982=) rs1254751869 0.00001
NM_015272.5(RPGRIP1L):c.2958+12A>G rs1333027964 0.00001
NM_015272.5(RPGRIP1L):c.2961G>A (p.Glu987=) rs762752860 0.00001
NM_015272.5(RPGRIP1L):c.297C>T (p.Pro99=) rs771166557 0.00001
NM_015272.5(RPGRIP1L):c.2997A>G (p.Ser999=) rs1165700039 0.00001
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372 0.00001
NM_015272.5(RPGRIP1L):c.3099T>C (p.Asn1033=) rs1309372176 0.00001
NM_015272.5(RPGRIP1L):c.3132G>A (p.Val1044=) rs201711256 0.00001
NM_015272.5(RPGRIP1L):c.3169T>C (p.Leu1057=) rs759259828 0.00001
NM_015272.5(RPGRIP1L):c.3174A>G (p.Ala1058=) rs1965928165 0.00001
NM_015272.5(RPGRIP1L):c.3210G>A (p.Leu1070=) rs375177321 0.00001
NM_015272.5(RPGRIP1L):c.3220+17A>C rs1204073957 0.00001
NM_015272.5(RPGRIP1L):c.3221-20C>T rs750043137 0.00001
NM_015272.5(RPGRIP1L):c.3294+10T>C rs201237327 0.00001
NM_015272.5(RPGRIP1L):c.3294+17C>T rs751212735 0.00001
NM_015272.5(RPGRIP1L):c.3295-10T>G rs1379401600 0.00001
NM_015272.5(RPGRIP1L):c.3295-20T>G rs1254704073 0.00001
NM_015272.5(RPGRIP1L):c.3295-9T>G rs1406378943 0.00001
NM_015272.5(RPGRIP1L):c.3330C>T (p.Ser1110=) rs1304423187 0.00001
NM_015272.5(RPGRIP1L):c.3333G>A (p.Ala1111=) rs1017593402 0.00001
NM_015272.5(RPGRIP1L):c.3351C>T (p.Asn1117=) rs1300571190 0.00001
NM_015272.5(RPGRIP1L):c.3465T>A (p.Ala1155=) rs1179982643 0.00001
NM_015272.5(RPGRIP1L):c.3516G>A (p.Leu1172=) rs1388851938 0.00001
NM_015272.5(RPGRIP1L):c.354A>G (p.Lys118=) rs1253988919 0.00001
NM_015272.5(RPGRIP1L):c.3561C>T (p.Pro1187=) rs557855890 0.00001
NM_015272.5(RPGRIP1L):c.3616+9G>T rs934455196 0.00001
NM_015272.5(RPGRIP1L):c.3617-10T>C rs766297944 0.00001
NM_015272.5(RPGRIP1L):c.3617-13T>C rs776593940 0.00001
NM_015272.5(RPGRIP1L):c.3617-6G>A rs377099270 0.00001
NM_015272.5(RPGRIP1L):c.3617-9T>C rs201158816 0.00001
NM_015272.5(RPGRIP1L):c.3673C>T (p.Leu1225=) rs1189160289 0.00001
NM_015272.5(RPGRIP1L):c.3701+12C>A rs931566897 0.00001
NM_015272.5(RPGRIP1L):c.3701+9T>C rs201569885 0.00001
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=) rs1239622461 0.00001
NM_015272.5(RPGRIP1L):c.3768C>T (p.Gly1256=) rs780364836 0.00001
NM_015272.5(RPGRIP1L):c.3783C>T (p.Asp1261=) rs1245403227 0.00001
NM_015272.5(RPGRIP1L):c.3828T>C (p.Asn1276=) rs1432386308 0.00001
NM_015272.5(RPGRIP1L):c.3831C>T (p.Ile1277=) rs760294595 0.00001
NM_015272.5(RPGRIP1L):c.3835+18G>T rs770332770 0.00001
NM_015272.5(RPGRIP1L):c.3836-15C>A rs777880156 0.00001
NM_015272.5(RPGRIP1L):c.3836-20T>C rs1399609128 0.00001
NM_015272.5(RPGRIP1L):c.3836-4C>A rs1233984342 0.00001
NM_015272.5(RPGRIP1L):c.3836-5C>T rs1442171704 0.00001
NM_015272.5(RPGRIP1L):c.3858T>C (p.Gly1286=) rs201132156 0.00001
NM_015272.5(RPGRIP1L):c.387C>T (p.Leu129=) rs752951179 0.00001
NM_015272.5(RPGRIP1L):c.3888C>T (p.Val1296=) rs1963406998 0.00001
NM_015272.5(RPGRIP1L):c.3939G>A (p.Leu1313=) rs749041133 0.00001
NM_015272.5(RPGRIP1L):c.393C>T (p.Asn131=) rs759792690 0.00001
NM_015272.5(RPGRIP1L):c.462A>G (p.Gln154=) rs1298157360 0.00001
NM_015272.5(RPGRIP1L):c.480G>A (p.Gly160=) rs766853230 0.00001
NM_015272.5(RPGRIP1L):c.486A>G (p.Arg162=) rs1253788850 0.00001
NM_015272.5(RPGRIP1L):c.489A>G (p.Lys163=) rs1352245119 0.00001
NM_015272.5(RPGRIP1L):c.48T>C (p.Asp16=) rs1046124483 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015272.5(RPGRIP1L):c.510A>G (p.Leu170=) rs750991343 0.00001
NM_015272.5(RPGRIP1L):c.529+13T>C rs765470306 0.00001
NM_015272.5(RPGRIP1L):c.529+15A>G rs755374063 0.00001
NM_015272.5(RPGRIP1L):c.564T>A (p.Thr188=) rs1408780343 0.00001
NM_015272.5(RPGRIP1L):c.582A>G (p.Thr194=) rs924608253 0.00001
NM_015272.5(RPGRIP1L):c.632+9T>C rs1970128165 0.00001
NM_015272.5(RPGRIP1L):c.639C>T (p.Asn213=) rs376808910 0.00001
NM_015272.5(RPGRIP1L):c.63C>G (p.Leu21=) rs200723710 0.00001
NM_015272.5(RPGRIP1L):c.642T>G (p.Val214=) rs1970032678 0.00001
NM_015272.5(RPGRIP1L):c.651A>C (p.Ser217=) rs2544640803 0.00001
NM_015272.5(RPGRIP1L):c.672G>A (p.Glu224=) rs1253337508 0.00001
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=) rs1266143274 0.00001
NM_015272.5(RPGRIP1L):c.711G>A (p.Arg237=) rs371710677 0.00001
NM_015272.5(RPGRIP1L):c.776+13A>C rs772348382 0.00001
NM_015272.5(RPGRIP1L):c.776+19A>G rs1306420085 0.00001
NM_015272.5(RPGRIP1L):c.777-12A>G rs1385776955 0.00001
NM_015272.5(RPGRIP1L):c.777-20T>C rs1969055342 0.00001
NM_015272.5(RPGRIP1L):c.777-4G>A rs374490708 0.00001
NM_015272.5(RPGRIP1L):c.789G>A (p.Arg263=) rs1969050230 0.00001
NM_015272.5(RPGRIP1L):c.78G>A (p.Gly26=) rs1276297529 0.00001
NM_015272.5(RPGRIP1L):c.825A>G (p.Leu275=) rs546767878 0.00001
NM_015272.5(RPGRIP1L):c.85+12T>C rs978023884 0.00001
NM_015272.5(RPGRIP1L):c.85+17T>C rs557275761 0.00001
NM_015272.5(RPGRIP1L):c.86-12G>A rs755027637 0.00001
NM_015272.5(RPGRIP1L):c.867T>C (p.Phe289=) rs1178591734 0.00001
NM_015272.5(RPGRIP1L):c.882+12A>G rs1264347960 0.00001
NM_015272.5(RPGRIP1L):c.882+17T>C rs1969038633 0.00001
NM_015272.5(RPGRIP1L):c.883-20A>G rs781088450 0.00001
NM_015272.5(RPGRIP1L):c.883-6T>C rs1238398459 0.00001
NM_015272.5(RPGRIP1L):c.909C>T (p.His303=) rs1313242175 0.00001
NM_015272.5(RPGRIP1L):c.936A>G (p.Glu312=) rs1454166907 0.00001
NM_015272.5(RPGRIP1L):c.981T>C (p.Leu327=) rs1392805650 0.00001
NM_015272.5(RPGRIP1L):c.99A>C (p.Thr33=) rs768545485 0.00001
NM_015681.6(B9D1):c.105G>A (p.Val35=) rs912206756 0.00001
NM_015681.6(B9D1):c.108C>T (p.Tyr36=) rs548122561 0.00001
NM_015681.6(B9D1):c.189A>G (p.Ala63=) rs779880608 0.00001
NM_015681.6(B9D1):c.216C>G (p.Val72=) rs142357986 0.00001
NM_015681.6(B9D1):c.240C>T (p.Tyr80=) rs754203497 0.00001
NM_015681.6(B9D1):c.255C>T (p.Ile85=) rs759444627 0.00001
NM_015681.6(B9D1):c.276A>C (p.Pro92=) rs996417216 0.00001
NM_015681.6(B9D1):c.288G>A (p.Gly96=) rs1405231172 0.00001
NM_015681.6(B9D1):c.315C>T (p.Ala105=) rs776662206 0.00001
NM_015681.6(B9D1):c.321C>T (p.His107=) rs377672945 0.00001
NM_015681.6(B9D1):c.341+15T>C rs778039369 0.00001
NM_015681.6(B9D1):c.342-10T>C rs1908966319 0.00001
NM_015681.6(B9D1):c.342-12C>T rs1365103687 0.00001
NM_015681.6(B9D1):c.405-19T>C rs1053958238 0.00001
NM_015681.6(B9D1):c.472+16C>G rs375227607 0.00001
NM_015681.6(B9D1):c.480T>G (p.Arg160=) rs747138868 0.00001
NM_015681.6(B9D1):c.63+16C>T rs1428658413 0.00001
NM_015681.6(B9D1):c.63+20G>A rs765907063 0.00001
NM_015681.6(B9D1):c.64-4T>C rs749948329 0.00001
NM_015681.6(B9D1):c.99C>T (p.Cys33=) rs1910884202 0.00001
NM_017777.4(MKS1):c.102A>G (p.Thr34=) rs886053171 0.00001
NM_017777.4(MKS1):c.1041A>G (p.Ala347=) rs2509416696 0.00001
NM_017777.4(MKS1):c.1074C>T (p.Cys358=) rs1411471923 0.00001
NM_017777.4(MKS1):c.1077C>T (p.Thr359=) rs1968672310 0.00001
NM_017777.4(MKS1):c.1086C>T (p.Ser362=) rs748800331 0.00001
NM_017777.4(MKS1):c.1095+13A>T rs970409292 0.00001
NM_017777.4(MKS1):c.1095+17C>T rs937466353 0.00001
NM_017777.4(MKS1):c.1095+20G>C rs927474862 0.00001
NM_017777.4(MKS1):c.1096-10C>T rs766137727 0.00001
NM_017777.4(MKS1):c.1166-11C>T rs1291753612 0.00001
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819 0.00001
NM_017777.4(MKS1):c.1227G>A (p.Arg409=) rs755065589 0.00001
NM_017777.4(MKS1):c.1274-6G>T rs1247721124 0.00001
NM_017777.4(MKS1):c.1299G>A (p.Thr433=) rs749503564 0.00001
NM_017777.4(MKS1):c.1305A>G (p.Arg435=) rs1007814770 0.00001
NM_017777.4(MKS1):c.1326G>A (p.Val442=) rs569499621 0.00001
NM_017777.4(MKS1):c.1353C>T (p.Gly451=) rs764549118 0.00001
NM_017777.4(MKS1):c.1359T>G (p.Ser453=) rs1284188693 0.00001
NM_017777.4(MKS1):c.1383T>C (p.Tyr461=) rs774475723 0.00001
NM_017777.4(MKS1):c.1407+10G>A rs991023855 0.00001
NM_017777.4(MKS1):c.1407+20_1407+25del rs774080859 0.00001
NM_017777.4(MKS1):c.1408-10C>G rs1440068430 0.00001
NM_017777.4(MKS1):c.1408-36G>A rs755493387 0.00001
NM_017777.4(MKS1):c.1408-5C>T rs1237002420 0.00001
NM_017777.4(MKS1):c.1416C>T (p.Arg472=) rs1421301211 0.00001
NM_017777.4(MKS1):c.1479G>A (p.Leu493=) rs376833168 0.00001
NM_017777.4(MKS1):c.1490+13G>A rs1261119858 0.00001
NM_017777.4(MKS1):c.1490+18C>G rs201076918 0.00001
NM_017777.4(MKS1):c.1491-10C>T rs1708164751 0.00001
NM_017777.4(MKS1):c.1491-20T>C rs1968509787 0.00001
NM_017777.4(MKS1):c.1588+15C>G rs1388207225 0.00001
NM_017777.4(MKS1):c.1589-12C>T rs377376912 0.00001
NM_017777.4(MKS1):c.1589-19A>G rs757672989 0.00001
NM_017777.4(MKS1):c.1589-7C>T rs756418206 0.00001
NM_017777.4(MKS1):c.1629G>A (p.Arg543=) rs781530535 0.00001
NM_017777.4(MKS1):c.1641G>A (p.Pro547=) rs758334200 0.00001
NM_017777.4(MKS1):c.1668C>T (p.Thr556=) rs553314050 0.00001
NM_017777.4(MKS1):c.1674C>T (p.Val558=) rs376925280 0.00001
NM_017777.4(MKS1):c.180G>A (p.Gln60=) rs1008086525 0.00001
NM_017777.4(MKS1):c.190+11C>T rs529293609 0.00001
NM_017777.4(MKS1):c.190+15G>T rs1341976523 0.00001
NM_017777.4(MKS1):c.191-19C>G rs373177500 0.00001
NM_017777.4(MKS1):c.191-6T>G rs748412372 0.00001
NM_017777.4(MKS1):c.204A>T (p.Pro68=) rs557752726 0.00001
NM_017777.4(MKS1):c.243G>A (p.Gln81=) rs1488924614 0.00001
NM_017777.4(MKS1):c.261+15C>G rs747519697 0.00001
NM_017777.4(MKS1):c.262-10G>T rs772852025 0.00001
NM_017777.4(MKS1):c.262-13A>G rs762525007 0.00001
NM_017777.4(MKS1):c.262-16C>T rs770460857 0.00001
NM_017777.4(MKS1):c.30C>A (p.Thr10=) rs576239597 0.00001
NM_017777.4(MKS1):c.411G>A (p.Leu137=) rs770948877 0.00001
NM_017777.4(MKS1):c.417+10T>C rs780977789 0.00001
NM_017777.4(MKS1):c.438T>C (p.Thr146=) rs1969097774 0.00001
NM_017777.4(MKS1):c.45T>C (p.Tyr15=) rs1969448100 0.00001
NM_017777.4(MKS1):c.515+19T>C rs1410970640 0.00001
NM_017777.4(MKS1):c.515+9G>A rs752279060 0.00001
NM_017777.4(MKS1):c.516-7C>A rs755511133 0.00001
NM_017777.4(MKS1):c.522C>T (p.Gly174=) rs780657802 0.00001
NM_017777.4(MKS1):c.567G>A (p.Glu189=) rs1969063172 0.00001
NM_017777.4(MKS1):c.585C>T (p.His195=) rs200628275 0.00001
NM_017777.4(MKS1):c.628C>T (p.Leu210=) rs1451406283 0.00001
NM_017777.4(MKS1):c.657G>A (p.Lys219=) rs1969030274 0.00001
NM_017777.4(MKS1):c.672C>T (p.Val224=) rs200531517 0.00001
NM_017777.4(MKS1):c.675G>A (p.Leu225=) rs1969025949 0.00001
NM_017777.4(MKS1):c.687G>A (p.Lys229=) rs1309433422 0.00001
NM_017777.4(MKS1):c.732C>G (p.Gly244=) rs753234130 0.00001
NM_017777.4(MKS1):c.749+11G>A rs751851769 0.00001
NM_017777.4(MKS1):c.750-18G>A rs1314314357 0.00001
NM_017777.4(MKS1):c.750-5T>C rs2509439161 0.00001
NM_017777.4(MKS1):c.795C>T (p.Ile265=) rs750597104 0.00001
NM_017777.4(MKS1):c.80+18G>A rs775676586 0.00001
NM_017777.4(MKS1):c.801T>C (p.Asn267=) rs753798549 0.00001
NM_017777.4(MKS1):c.81-13C>T rs1969411467 0.00001
NM_017777.4(MKS1):c.825G>A (p.Glu275=) rs921504865 0.00001
NM_017777.4(MKS1):c.870G>A (p.Arg290=) rs769489826 0.00001
NM_017777.4(MKS1):c.876G>A (p.Lys292=) rs1341204949 0.00001
NM_017777.4(MKS1):c.915+19T>C rs200080801 0.00001
NM_017777.4(MKS1):c.916-10T>C rs750119538 0.00001
NM_017777.4(MKS1):c.958+7G>C rs1185269829 0.00001
NM_017777.4(MKS1):c.959-5C>T rs765242131 0.00001
NM_017777.4(MKS1):c.959-8T>G rs763444295 0.00001
NM_017777.4(MKS1):c.959-9C>G rs538316917 0.00001
NM_017777.4(MKS1):c.978G>A (p.Glu326=) rs1246215697 0.00001
NM_024809.5(TCTN2):c.1100-18A>G rs1956087736 0.00001
NM_024809.5(TCTN2):c.1107T>A (p.Pro369=) rs1337236214 0.00001
NM_024809.5(TCTN2):c.1235-20T>A rs773929370 0.00001
NM_024809.5(TCTN2):c.1236G>T (p.Gly412=) rs376630400 0.00001
NM_024809.5(TCTN2):c.1245A>G (p.Thr415=) rs760360790 0.00001
NM_024809.5(TCTN2):c.1371G>A (p.Thr457=) rs1212555963 0.00001
NM_024809.5(TCTN2):c.1393+19T>C rs1434022811 0.00001
NM_024809.5(TCTN2):c.1394-5T>C rs1269432701 0.00001
NM_024809.5(TCTN2):c.1476C>T (p.Val492=) rs755762894 0.00001
NM_024809.5(TCTN2):c.147C>A (p.Thr49=) rs781321058 0.00001
NM_024809.5(TCTN2):c.1497T>C (p.Thr499=) rs915966685 0.00001
NM_024809.5(TCTN2):c.1505+12A>G rs1179038667 0.00001
NM_024809.5(TCTN2):c.1612+13C>T rs372353543 0.00001
NM_024809.5(TCTN2):c.1612+14G>A rs904117905 0.00001
NM_024809.5(TCTN2):c.1612+16G>A rs763269335 0.00001
NM_024809.5(TCTN2):c.1613-16C>T rs777663928 0.00001
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=) rs553095875 0.00001
NM_024809.5(TCTN2):c.1689C>T (p.His563=) rs763961375 0.00001
NM_024809.5(TCTN2):c.1713G>A (p.Ser571=) rs772675747 0.00001
NM_024809.5(TCTN2):c.1728G>A (p.Val576=) rs1202018902 0.00001
NM_024809.5(TCTN2):c.1769+10C>T rs771550665 0.00001
NM_024809.5(TCTN2):c.1769+8C>T rs747529799 0.00001
NM_024809.5(TCTN2):c.1769+9A>G rs528667731 0.00001
NM_024809.5(TCTN2):c.1770-13del rs1566265391 0.00001
NM_024809.5(TCTN2):c.1794C>T (p.Tyr598=) rs193008632 0.00001
NM_024809.5(TCTN2):c.1824C>T (p.Ala608=) rs747771800 0.00001
NM_024809.5(TCTN2):c.1895+12G>A rs1248269049 0.00001
NM_024809.5(TCTN2):c.190+14C>T rs1251566473 0.00001
NM_024809.5(TCTN2):c.191-16G>T rs756369722 0.00001
NM_024809.5(TCTN2):c.191-5T>G rs755362026 0.00001
NM_024809.5(TCTN2):c.1926C>T (p.Cys642=) rs763066033 0.00001
NM_024809.5(TCTN2):c.192A>C (p.Gly64=) rs2541747687 0.00001
NM_024809.5(TCTN2):c.2020C>T (p.Leu674=) rs748210114 0.00001
NM_024809.5(TCTN2):c.207G>A (p.Pro69=) rs775096865 0.00001
NM_024809.5(TCTN2):c.210G>T (p.Thr70=) rs1196817536 0.00001
NM_024809.5(TCTN2):c.255G>C (p.Val85=) rs1244229343 0.00001
NM_024809.5(TCTN2):c.273G>T (p.Val91=) rs375065995 0.00001
NM_024809.5(TCTN2):c.27T>G (p.Leu9=) rs942739172 0.00001
NM_024809.5(TCTN2):c.333T>C (p.Asp111=) rs534113568 0.00001
NM_024809.5(TCTN2):c.429T>C (p.Ile143=) rs188417716 0.00001
NM_024809.5(TCTN2):c.504T>C (p.Leu168=) rs1359077600 0.00001
NM_024809.5(TCTN2):c.510T>C (p.Pro170=) rs769707766 0.00001
NM_024809.5(TCTN2):c.565-5T>G rs1286183900 0.00001
NM_024809.5(TCTN2):c.690T>C (p.Asp230=) rs758451250 0.00001
NM_024809.5(TCTN2):c.723T>C (p.Leu241=) rs373992170 0.00001
NM_024809.5(TCTN2):c.764+17C>T rs2541773368 0.00001
NM_024809.5(TCTN2):c.82+15G>T rs1047249737 0.00001
NM_024809.5(TCTN2):c.82+7A>C rs767155532 0.00001
NM_024809.5(TCTN2):c.822T>C (p.Phe274=) rs769380216 0.00001
NM_024809.5(TCTN2):c.83-18C>T rs1955750056 0.00001
NM_024809.5(TCTN2):c.83-20C>T rs1311027569 0.00001
NM_024809.5(TCTN2):c.83-6G>A rs756232884 0.00001
NM_024809.5(TCTN2):c.921C>T (p.Asn307=) rs199695156 0.00001
NM_030578.4(B9D2):c.132G>A (p.Thr44=) rs774854310 0.00001
NM_030578.4(B9D2):c.432C>T (p.Ala144=) rs778128085 0.00001
NM_153704.6(TMEM67):c.1014T>C (p.Asp338=) rs766110263 0.00001
NM_153704.6(TMEM67):c.1066-4G>A rs942758910 0.00001
NM_153704.6(TMEM67):c.1066-7G>T rs978443277 0.00001
NM_153704.6(TMEM67):c.1104T>C (p.Tyr368=) rs780053133 0.00001
NM_153704.6(TMEM67):c.1143T>C (p.Pro381=) rs1315807334 0.00001
NM_153704.6(TMEM67):c.1203T>C (p.Tyr401=) rs1814042818 0.00001
NM_153704.6(TMEM67):c.1239G>T (p.Val413=) rs1356201430 0.00001
NM_153704.6(TMEM67):c.1289-19T>C rs745768246 0.00001
NM_153704.6(TMEM67):c.1289-20T>C rs1814088028 0.00001
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.1412+16A>G rs1814101036 0.00001
NM_153704.6(TMEM67):c.1422T>C (p.Leu474=) rs1443190042 0.00001
NM_153704.6(TMEM67):c.1530A>G (p.Ser510=) rs201483462 0.00001
NM_153704.6(TMEM67):c.1575+9A>G rs1207098688 0.00001
NM_153704.6(TMEM67):c.1576-9G>T rs760002634 0.00001
NM_153704.6(TMEM67):c.159G>A (p.Gln53=) rs998413541 0.00001
NM_153704.6(TMEM67):c.15T>G (p.Gly5=) rs767145640 0.00001
NM_153704.6(TMEM67):c.1621T>C (p.Leu541=) rs1420559146 0.00001
NM_153704.6(TMEM67):c.1641G>A (p.Lys547=) rs1814466283 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 0.00001
NM_153704.6(TMEM67):c.1675-18C>T rs750708694 0.00001
NM_153704.6(TMEM67):c.1701T>C (p.Tyr567=) rs1179736560 0.00001
NM_153704.6(TMEM67):c.1734C>T (p.Ile578=) rs774011311 0.00001
NM_153704.6(TMEM67):c.1773+14T>A rs1370201374 0.00001
NM_153704.6(TMEM67):c.1774-4A>G rs756164489 0.00001
NM_153704.6(TMEM67):c.1774-7A>T rs1814591745 0.00001
NM_153704.6(TMEM67):c.1785T>C (p.Ser595=) rs756722828 0.00001
NM_153704.6(TMEM67):c.1860+17A>G rs746606881 0.00001
NM_153704.6(TMEM67):c.1860+8T>C rs1421096303 0.00001
NM_153704.6(TMEM67):c.1861-13A>G rs571446327 0.00001
NM_153704.6(TMEM67):c.1926G>A (p.Glu642=) rs747282253 0.00001
NM_153704.6(TMEM67):c.1956T>G (p.Val652=) rs2130734693 0.00001
NM_153704.6(TMEM67):c.2101-8T>C rs544088620 0.00001
NM_153704.6(TMEM67):c.2115G>A (p.Lys705=) rs1219890990 0.00001
NM_153704.6(TMEM67):c.2142T>C (p.Ser714=) rs1814779643 0.00001
NM_153704.6(TMEM67):c.223+10T>G rs759862721 0.00001
NM_153704.6(TMEM67):c.223+15G>A rs369696315 0.00001
NM_153704.6(TMEM67):c.223+16G>C rs753224153 0.00001
NM_153704.6(TMEM67):c.223+9G>A rs1264088122 0.00001
NM_153704.6(TMEM67):c.224-11T>A rs1272537781 0.00001
NM_153704.6(TMEM67):c.224-7T>C rs946896414 0.00001
NM_153704.6(TMEM67):c.2241+12T>C rs1814787407 0.00001
NM_153704.6(TMEM67):c.2301T>G (p.Val767=) rs1234295532 0.00001
NM_153704.6(TMEM67):c.231A>G (p.Ser77=) rs769535902 0.00001
NM_153704.6(TMEM67):c.2322+7A>G rs1395856204 0.00001
NM_153704.6(TMEM67):c.2323-10C>T rs781307279 0.00001
NM_153704.6(TMEM67):c.2323-12C>A rs1007807232 0.00001
NM_153704.6(TMEM67):c.2370T>C (p.His790=) rs1475347154 0.00001
NM_153704.6(TMEM67):c.2439+8A>C rs778635188 0.00001
NM_153704.6(TMEM67):c.2440-11T>C rs767482660 0.00001
NM_153704.6(TMEM67):c.2440-7T>C rs1323389133 0.00001
NM_153704.6(TMEM67):c.2557-11T>C rs370652713 0.00001
NM_153704.6(TMEM67):c.2557-20A>G rs2536947017 0.00001
NM_153704.6(TMEM67):c.2604G>A (p.Glu868=) rs1471491528 0.00001
NM_153704.6(TMEM67):c.2661+18T>G rs1223777360 0.00001
NM_153704.6(TMEM67):c.2662-4T>C rs374804519 0.00001
NM_153704.6(TMEM67):c.2688A>C (p.Ile896=) rs773700963 0.00001
NM_153704.6(TMEM67):c.2764+10A>T rs900677485 0.00001
NM_153704.6(TMEM67):c.2764+19T>C rs1448362320 0.00001
NM_153704.6(TMEM67):c.2765-4A>C rs1242768505 0.00001
NM_153704.6(TMEM67):c.2796T>C (p.Tyr932=) rs2536967528 0.00001
NM_153704.6(TMEM67):c.2835G>C (p.Leu945=) rs745807071 0.00001
NM_153704.6(TMEM67):c.2907+15T>C rs1218036498 0.00001
NM_153704.6(TMEM67):c.2908-12T>C rs780091092 0.00001
NM_153704.6(TMEM67):c.2961A>G (p.Thr987=) rs1007113948 0.00001
NM_153704.6(TMEM67):c.2962T>C (p.Leu988=) rs762068518 0.00001
NM_153704.6(TMEM67):c.2988A>G (p.Ter996=) rs1465302709 0.00001
NM_153704.6(TMEM67):c.330T>C (p.Asp110=) rs1403926619 0.00001
NM_153704.6(TMEM67):c.333C>T (p.Gly111=) rs768929156 0.00001
NM_153704.6(TMEM67):c.406+11G>T rs1032950384 0.00001
NM_153704.6(TMEM67):c.406+12A>T rs575499078 0.00001
NM_153704.6(TMEM67):c.506+9T>G rs1297987978 0.00001
NM_153704.6(TMEM67):c.507-10T>C rs1346338603 0.00001
NM_153704.6(TMEM67):c.507-9A>G rs200249869 0.00001
NM_153704.6(TMEM67):c.576+11C>A rs1813041509 0.00001
NM_153704.6(TMEM67):c.576+16T>C rs542209524 0.00001
NM_153704.6(TMEM67):c.576+17T>C rs367982641 0.00001
NM_153704.6(TMEM67):c.577-20T>C rs1355769464 0.00001
NM_153704.6(TMEM67):c.582G>A (p.Gly194=) rs1230815674 0.00001
NM_153704.6(TMEM67):c.651+12T>G rs1813051382 0.00001
NM_153704.6(TMEM67):c.651+15A>G rs752083723 0.00001
NM_153704.6(TMEM67):c.651+17T>G rs926157464 0.00001
NM_153704.6(TMEM67):c.651+20T>G rs767640779 0.00001
NM_153704.6(TMEM67):c.652-6T>C rs1282835643 0.00001
NM_153704.6(TMEM67):c.666T>A (p.Thr222=) rs565613699 0.00001
NM_153704.6(TMEM67):c.715-13T>C rs1297804564 0.00001
NM_153704.6(TMEM67):c.720T>C (p.Tyr240=) rs2536841523 0.00001
NM_153704.6(TMEM67):c.783C>T (p.Asp261=) rs780748968 0.00001
NM_153704.6(TMEM67):c.79C>T (p.Leu27=) rs763698200 0.00001
NM_153704.6(TMEM67):c.840A>G (p.Gly280=) rs536761065 0.00001
NM_153704.6(TMEM67):c.869+11T>G rs759451327 0.00001
NM_153704.6(TMEM67):c.869+18G>C rs1461079741 0.00001
NM_153704.6(TMEM67):c.870-17G>C rs554004174 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NM_153704.6(TMEM67):c.978+14A>G rs763993769 0.00001
NM_153704.6(TMEM67):c.990G>A (p.Leu330=) rs761599038 0.00001
NM_001082538.3(TCTN1):c.1105-14G>C rs2066951441
NM_001082538.3(TCTN1):c.1125T>C (p.Pro375=) rs2548908557
NM_001082538.3(TCTN1):c.114C>A (p.Thr38=) rs891808554
NM_001082538.3(TCTN1):c.1158C>T (p.Leu386=)
NM_001082538.3(TCTN1):c.1176C>T (p.Phe392=) rs2548908970
NM_001082538.3(TCTN1):c.1191-17C>G rs2548913430
NM_001082538.3(TCTN1):c.1209C>A (p.Thr403=) rs1195048348
NM_001082538.3(TCTN1):c.1327C>T (p.Leu443=) rs2548914714
NM_001082538.3(TCTN1):c.1331+15T>C rs1377582161
NM_001082538.3(TCTN1):c.1332-17_1332-15del rs1346752512
NM_001082538.3(TCTN1):c.1386G>A (p.Leu462=) rs370730463
NM_001082538.3(TCTN1):c.1386G>T (p.Leu462=) rs370730463
NM_001082538.3(TCTN1):c.1434G>A (p.Gln478=) rs2136172368
NM_001082538.3(TCTN1):c.1495-15C>G rs2548943604
NM_001082538.3(TCTN1):c.1503T>G (p.Val501=) rs2067384815
NM_001082538.3(TCTN1):c.1524C>T (p.Leu508=) rs757636403
NM_001082538.3(TCTN1):c.1599T>C (p.Asn533=) rs2136196716
NM_001082538.3(TCTN1):c.159C>T (p.Pro53=) rs1247221259
NM_001082538.3(TCTN1):c.1626C>T (p.Ser542=) rs2136196962
NM_001082538.3(TCTN1):c.1636-13C>G rs2136202456
NM_001082538.3(TCTN1):c.1636-20C>G rs761797232
NM_001082538.3(TCTN1):c.1671C>T (p.Ser557=) rs200067409
NM_001082538.3(TCTN1):c.1749G>A (p.Leu583=) rs1228988444
NM_001082538.3(TCTN1):c.1758C>T (p.Asn586=) rs771778649
NM_001082538.3(TCTN1):c.186C>G (p.Pro62=) rs2548754228
NM_001082538.3(TCTN1):c.198C>T (p.Pro66=) rs745624307
NM_001082538.3(TCTN1):c.216G>A (p.Thr72=)
NM_001082538.3(TCTN1):c.216G>C (p.Thr72=) rs1374492970
NM_001082538.3(TCTN1):c.220+10A>C rs1006963267
NM_001082538.3(TCTN1):c.220+11T>C rs2548754700
NM_001082538.3(TCTN1):c.220+15C>A rs773826085
NM_001082538.3(TCTN1):c.221-12T>C rs2065291069
NM_001082538.3(TCTN1):c.221-8_221-7del rs768471137
NM_001082538.3(TCTN1):c.249C>T (p.Ser83=) rs2135904897
NM_001082538.3(TCTN1):c.24G>A (p.Pro8=) rs2135826966
NM_001082538.3(TCTN1):c.282T>C (p.Asp94=)
NM_001082538.3(TCTN1):c.341+10C>T rs201488724
NM_001082538.3(TCTN1):c.341+13A>G
NM_001082538.3(TCTN1):c.341+20A>G rs577724884
NM_001082538.3(TCTN1):c.342-10T>A rs2065841135
NM_001082538.3(TCTN1):c.363T>C (p.Ser121=) rs368455886
NM_001082538.3(TCTN1):c.39C>G (p.Leu13=) rs1466453220
NM_001082538.3(TCTN1):c.402C>T (p.Asn134=) rs2548832990
NM_001082538.3(TCTN1):c.45C>T (p.Gly15=)
NM_001082538.3(TCTN1):c.472+14A>G rs1483589919
NM_001082538.3(TCTN1):c.573A>T (p.Ser191=)
NM_001082538.3(TCTN1):c.585C>T (p.Phe195=) rs774402021
NM_001082538.3(TCTN1):c.621T>C (p.Tyr207=) rs757534239
NM_001082538.3(TCTN1):c.624+12C>A rs750086897
NM_001082538.3(TCTN1):c.625-16G>A rs1193239700
NM_001082538.3(TCTN1):c.625-16G>C rs1193239700
NM_001082538.3(TCTN1):c.630G>A (p.Gly210=) rs2548865155
NM_001082538.3(TCTN1):c.636T>C (p.Pro212=)
NM_001082538.3(TCTN1):c.669T>C (p.Pro223=) rs2548865574
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_001082538.3(TCTN1):c.712+19T>G rs1407011800
NM_001082538.3(TCTN1):c.712+8del rs2548865972
NM_001082538.3(TCTN1):c.843+8TATT[2] rs775925984
NM_001082538.3(TCTN1):c.844-10C>T rs1565998186
NM_001082538.3(TCTN1):c.84G>A (p.Pro28=) rs777519512
NM_001082538.3(TCTN1):c.84G>C (p.Pro28=) rs777519512
NM_001082538.3(TCTN1):c.867C>T (p.Ile289=)
NM_001082538.3(TCTN1):c.915T>C (p.Asp305=) rs1240362273
NM_001082538.3(TCTN1):c.933C>A (p.Leu311=) rs748696458
NM_001082538.3(TCTN1):c.942T>C (p.Ala314=) rs2548901766
NM_001082538.3(TCTN1):c.951T>C (p.Phe317=)
NM_001082538.3(TCTN1):c.978+9C>T rs1193894596
NM_001082538.3(TCTN1):c.979-8G>A rs1182390950
NM_001082538.3(TCTN1):c.993C>G (p.Leu331=) rs748868810
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_001378615.1(CC2D2A):c.1002G>A (p.Leu334=) rs2474924766
NM_001378615.1(CC2D2A):c.1005G>A (p.Leu335=) rs2474924779
NM_001378615.1(CC2D2A):c.1014C>T (p.Asp338=) rs1366742787
NM_001378615.1(CC2D2A):c.1017+10C>T
NM_001378615.1(CC2D2A):c.1017+11A>G rs1266029108
NM_001378615.1(CC2D2A):c.1017+12C>T rs1716850910
NM_001378615.1(CC2D2A):c.1017+13C>T rs1716851135
NM_001378615.1(CC2D2A):c.1017+14C>T rs748499976
NM_001378615.1(CC2D2A):c.1017+19C>T rs1194581067
NM_001378615.1(CC2D2A):c.1017+7G>T rs137919504
NM_001378615.1(CC2D2A):c.1018-10T>A
NM_001378615.1(CC2D2A):c.1018-14T>C rs750682865
NM_001378615.1(CC2D2A):c.1018-18C>T rs1716885268
NM_001378615.1(CC2D2A):c.1018-20T>A rs1716884886
NM_001378615.1(CC2D2A):c.1018-5T>G rs2109013647
NM_001378615.1(CC2D2A):c.1018-6C>G rs2474926505
NM_001378615.1(CC2D2A):c.1018-6del rs2109013642
NM_001378615.1(CC2D2A):c.1018-9C>T rs2474926484
NM_001378615.1(CC2D2A):c.1026A>G (p.Arg342=) rs2474926546
NM_001378615.1(CC2D2A):c.1035A>C (p.Gly345=) rs1243256229
NM_001378615.1(CC2D2A):c.1044C>T (p.Gly348=) rs2474926605
NM_001378615.1(CC2D2A):c.1065C>T (p.Asn355=)
NM_001378615.1(CC2D2A):c.1068C>T (p.Pro356=) rs2109013744
NM_001378615.1(CC2D2A):c.1071C>T (p.Ile357=) rs2474926699
NM_001378615.1(CC2D2A):c.1092G>T (p.Pro364=) rs774216288
NM_001378615.1(CC2D2A):c.1110G>A (p.Glu370=) rs1289826078
NM_001378615.1(CC2D2A):c.1117A>G (p.Ile373Val) rs766621518
NM_001378615.1(CC2D2A):c.111A>T (p.Pro37=) rs1714412011
NM_001378615.1(CC2D2A):c.1122G>A (p.Lys374=) rs2474926869
NM_001378615.1(CC2D2A):c.1126G>A (p.Glu376Lys)
NM_001378615.1(CC2D2A):c.1126G>C (p.Glu376Gln) rs765768907
NM_001378615.1(CC2D2A):c.1127_1128delinsCA (p.Glu376Ala) rs2474926925
NM_001378615.1(CC2D2A):c.1149+10C>A
NM_001378615.1(CC2D2A):c.1149+10C>T rs752000548
NM_001378615.1(CC2D2A):c.1149+15C>A rs1577341356
NM_001378615.1(CC2D2A):c.1149+18T>C
NM_001378615.1(CC2D2A):c.1149+19C>T rs755795036
NM_001378615.1(CC2D2A):c.1150-13C>T rs1208588531
NM_001378615.1(CC2D2A):c.1182G>A (p.Val394=) rs762415141
NM_001378615.1(CC2D2A):c.1182G>C (p.Val394=) rs762415141
NM_001378615.1(CC2D2A):c.1188A>G (p.Arg396=) rs2109023994
NM_001378615.1(CC2D2A):c.119A>C (p.Lys40Thr) rs780010340
NM_001378615.1(CC2D2A):c.1203T>C (p.Pro401=) rs940435544
NM_001378615.1(CC2D2A):c.1218G>C (p.Leu406=) rs2474951741
NM_001378615.1(CC2D2A):c.123+23_123+24del rs960925783
NM_001378615.1(CC2D2A):c.123+9T>A rs2474823514
NM_001378615.1(CC2D2A):c.1236G>C (p.Gly412=) rs1417156333
NM_001378615.1(CC2D2A):c.124-13C>T rs767136951
NM_001378615.1(CC2D2A):c.124-14C>A rs2474830430
NM_001378615.1(CC2D2A):c.124-18C>T rs1162714204
NM_001378615.1(CC2D2A):c.124-9_124-7del rs1413472436
NM_001378615.1(CC2D2A):c.1269A>T (p.Arg423=) rs745715017
NM_001378615.1(CC2D2A):c.1275T>C (p.His425=) rs1044982475
NM_001378615.1(CC2D2A):c.1281G>A (p.Leu427=) rs749325810
NM_001378615.1(CC2D2A):c.1287C>A (p.Ala429=) rs2474952166
NM_001378615.1(CC2D2A):c.12G>A (p.Arg4=) rs2474814340
NM_001378615.1(CC2D2A):c.1305T>C (p.Tyr435=) rs1717582408
NM_001378615.1(CC2D2A):c.1350T>C (p.Leu450=) rs2474952537
NM_001378615.1(CC2D2A):c.1359+14C>T rs376667684
NM_001378615.1(CC2D2A):c.1359+19A>T rs2474952726
NM_001378615.1(CC2D2A):c.1359+7G>T rs2474952631
NM_001378615.1(CC2D2A):c.1359+9G>T rs369964702
NM_001378615.1(CC2D2A):c.1360-12T>A rs1717637000
NM_001378615.1(CC2D2A):c.1360-15C>G rs2474954893
NM_001378615.1(CC2D2A):c.1365A>G (p.Gln455=) rs2474954966
NM_001378615.1(CC2D2A):c.1377T>C (p.Asn459=) rs2474954992
NM_001378615.1(CC2D2A):c.1392C>A (p.Gly464=) rs755258233
NM_001378615.1(CC2D2A):c.1392C>G (p.Gly464=) rs755258233
NM_001378615.1(CC2D2A):c.1392C>T (p.Gly464=) rs755258233
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001378615.1(CC2D2A):c.1422C>G (p.Leu474=) rs377448964
NM_001378615.1(CC2D2A):c.1425T>C (p.Asp475=) rs748228512
NM_001378615.1(CC2D2A):c.1452T>C (p.Tyr484=) rs2109025199
NM_001378615.1(CC2D2A):c.1466+14_1466+16del rs751142207
NM_001378615.1(CC2D2A):c.1467-12_1467-10del
NM_001378615.1(CC2D2A):c.1467-13T>C rs747750921
NM_001378615.1(CC2D2A):c.1467-14A>G rs780411524
NM_001378615.1(CC2D2A):c.1467-17G>A rs770079510
NM_001378615.1(CC2D2A):c.1467-17G>T rs770079510
NM_001378615.1(CC2D2A):c.1467-20T>C rs1369384565
NM_001378615.1(CC2D2A):c.1467-4G>A rs200698609
NM_001378615.1(CC2D2A):c.1467-7C>T rs2109029775
NM_001378615.1(CC2D2A):c.1485T>C (p.Arg495=) rs2474965189
NM_001378615.1(CC2D2A):c.1494A>G (p.Glu498=) rs2474965207
NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys) rs765810643
NM_001378615.1(CC2D2A):c.1512A>G (p.Thr504=) rs2474965280
NM_001378615.1(CC2D2A):c.1545G>A (p.Glu515=) rs2474965436
NM_001378615.1(CC2D2A):c.1551A>G (p.Lys517=) rs2474965486
NM_001378615.1(CC2D2A):c.1554C>G (p.Ser518=) rs2474965918
NM_001378615.1(CC2D2A):c.1557T>G (p.Leu519=) rs2474965930
NM_001378615.1(CC2D2A):c.1560A>G (p.Arg520=)
NM_001378615.1(CC2D2A):c.1607+13G>A
NM_001378615.1(CC2D2A):c.1607+13G>T
NM_001378615.1(CC2D2A):c.1607+17A>C
NM_001378615.1(CC2D2A):c.1607+24_1607+28del rs2109029956
NM_001378615.1(CC2D2A):c.1607+9T>G
NM_001378615.1(CC2D2A):c.1608-18C>A rs1303472925
NM_001378615.1(CC2D2A):c.1629A>C (p.Ala543=) rs2474974548
NM_001378615.1(CC2D2A):c.165C>A (p.Ser55=) rs794727713
NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=) rs794727713
NM_001378615.1(CC2D2A):c.1677G>A (p.Leu559=) rs1560170993
NM_001378615.1(CC2D2A):c.1680A>G (p.Leu560=) rs1410261022
NM_001378615.1(CC2D2A):c.1695G>A (p.Glu565=) rs754175491
NM_001378615.1(CC2D2A):c.1710G>A (p.Lys570=) rs972685138
NM_001378615.1(CC2D2A):c.1731G>T (p.Ser577=) rs376746356
NM_001378615.1(CC2D2A):c.1764+10C>T rs745366586
NM_001378615.1(CC2D2A):c.1764+13A>C rs1718172673
NM_001378615.1(CC2D2A):c.1764+16C>G
NM_001378615.1(CC2D2A):c.1764+17T>A rs2474975659
NM_001378615.1(CC2D2A):c.1764+18C>T rs1718172963
NM_001378615.1(CC2D2A):c.1764+20G>T
NM_001378615.1(CC2D2A):c.1765-10A>T rs2474978304
NM_001378615.1(CC2D2A):c.1765-12C>G rs2474978288
NM_001378615.1(CC2D2A):c.1765-13_1765-9del rs2474978281
NM_001378615.1(CC2D2A):c.1765-17T>G rs2474978246
NM_001378615.1(CC2D2A):c.1765-20T>C rs1718218659
NM_001378615.1(CC2D2A):c.1765-24_1765-18del rs2474978202
NM_001378615.1(CC2D2A):c.1765-5A>C
NM_001378615.1(CC2D2A):c.180C>T (p.Pro60=)
NM_001378615.1(CC2D2A):c.1812T>C (p.Gly604=) rs771792420
NM_001378615.1(CC2D2A):c.1824A>T (p.Ala608=) rs2474978603
NM_001378615.1(CC2D2A):c.1863T>A (p.Pro621=) rs1325653391
NM_001378615.1(CC2D2A):c.1866A>C (p.Pro622=) rs1560171734
NM_001378615.1(CC2D2A):c.1902G>A (p.Val634=) rs1293349023
NM_001378615.1(CC2D2A):c.1926G>A (p.Arg642=)
NM_001378615.1(CC2D2A):c.1929G>A (p.Arg643=) rs2474979206
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001378615.1(CC2D2A):c.1950G>A (p.Leu650=) rs2474979328
NM_001378615.1(CC2D2A):c.1953C>G (p.Val651=) rs550913315
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001378615.1(CC2D2A):c.1986C>G (p.Pro662=) rs1211132838
NM_001378615.1(CC2D2A):c.1998C>T (p.Cys666=) rs2474979666
NM_001378615.1(CC2D2A):c.2003+12C>T rs757007979
NM_001378615.1(CC2D2A):c.2003+13T>G
NM_001378615.1(CC2D2A):c.2003+15C>A rs780860390
NM_001378615.1(CC2D2A):c.2003+16G>C rs746051826
NM_001378615.1(CC2D2A):c.2003+19C>A rs17476642
NM_001378615.1(CC2D2A):c.2003+20G>T
NM_001378615.1(CC2D2A):c.2004-17A>G rs759192059
NM_001378615.1(CC2D2A):c.2004-6T>C rs2474987817
NM_001378615.1(CC2D2A):c.2016G>C (p.Ser672=)
NM_001378615.1(CC2D2A):c.2040C>A (p.Arg680=) rs747387967
NM_001378615.1(CC2D2A):c.2040C>G (p.Arg680=) rs747387967
NM_001378615.1(CC2D2A):c.2046G>T (p.Val682=)
NM_001378615.1(CC2D2A):c.2058G>A (p.Val686=) rs2474988085
NM_001378615.1(CC2D2A):c.2076G>A (p.Glu692=) rs2474988181
NM_001378615.1(CC2D2A):c.2079G>A (p.Val693=) rs1348040937
NM_001378615.1(CC2D2A):c.2085G>A (p.Arg695=) rs2474988251
NM_001378615.1(CC2D2A):c.2106A>G (p.Gly702=) rs2474988381
NM_001378615.1(CC2D2A):c.2127T>C (p.Phe709=) rs1169590623
NM_001378615.1(CC2D2A):c.213C>A (p.Arg71=) rs2108973641
NM_001378615.1(CC2D2A):c.213C>G (p.Arg71=) rs2108973641
NM_001378615.1(CC2D2A):c.2163G>T (p.Pro721=) rs768337150
NM_001378615.1(CC2D2A):c.2178T>G (p.Leu726=) rs2474988695
NM_001378615.1(CC2D2A):c.2181+15T>C rs1718407379
NM_001378615.1(CC2D2A):c.2181+17T>G rs1016233369
NM_001378615.1(CC2D2A):c.2181+19G>A rs1450119511
NM_001378615.1(CC2D2A):c.2181+19G>T rs1450119511
NM_001378615.1(CC2D2A):c.2182-11C>T rs2475018844
NM_001378615.1(CC2D2A):c.2182-11_2182-10del rs768868487
NM_001378615.1(CC2D2A):c.2182-4T>C rs2475018903
NM_001378615.1(CC2D2A):c.2182-6T>G rs1225693344
NM_001378615.1(CC2D2A):c.2182-8G>C rs370731685
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA rs1560177950
NM_001378615.1(CC2D2A):c.2253T>C (p.Thr751=) rs778497854
NM_001378615.1(CC2D2A):c.2259C>G (p.Val753=) rs538922641
NM_001378615.1(CC2D2A):c.2268G>A (p.Arg756=) rs2475019502
NM_001378615.1(CC2D2A):c.2338+14del rs1560178133
NM_001378615.1(CC2D2A):c.2339-10G>A rs2475025825
NM_001378615.1(CC2D2A):c.2339-12G>A rs1719091399
NM_001378615.1(CC2D2A):c.2339-12G>C rs1719091399
NM_001378615.1(CC2D2A):c.2339-4C>A rs2109052944
NM_001378615.1(CC2D2A):c.2339-4_2339-3dup rs948844672
NM_001378615.1(CC2D2A):c.2339-7del rs917249107
NM_001378615.1(CC2D2A):c.2339-9T>C rs2475025829
NM_001378615.1(CC2D2A):c.2346C>G (p.Pro782=)
NM_001378615.1(CC2D2A):c.2367C>A (p.Gly789=) rs1270770512
NM_001378615.1(CC2D2A):c.2397G>A (p.Gly799=) rs1577370765
NM_001378615.1(CC2D2A):c.2403G>A (p.Val801=) rs2475026189
NM_001378615.1(CC2D2A):c.2415G>A (p.Val805=) rs2475026237
NM_001378615.1(CC2D2A):c.2445T>C (p.Pro815=) rs2475026448
NM_001378615.1(CC2D2A):c.2457A>G (p.Pro819=)
NM_001378615.1(CC2D2A):c.2458T>C (p.Leu820=) rs2475026514
NM_001378615.1(CC2D2A):c.2469G>A (p.Gln823=) rs764020619
NM_001378615.1(CC2D2A):c.247+12T>G rs752745536
NM_001378615.1(CC2D2A):c.247+13C>T rs1170945299
NM_001378615.1(CC2D2A):c.247+18A>G rs1577312181
NM_001378615.1(CC2D2A):c.247+9C>G rs1221333186
NM_001378615.1(CC2D2A):c.2472C>T (p.Asn824=) rs2475026579
NM_001378615.1(CC2D2A):c.248-15del
NM_001378615.1(CC2D2A):c.248-20T>C
NM_001378615.1(CC2D2A):c.248-25TTTTGT[2] rs1577329643
NM_001378615.1(CC2D2A):c.2482C>A (p.Arg828=) rs749997192
NM_001378615.1(CC2D2A):c.2484G>A (p.Arg828=) rs2475026670
NM_001378615.1(CC2D2A):c.2486+13A>G rs2475026742
NM_001378615.1(CC2D2A):c.2486+19A>C
NM_001378615.1(CC2D2A):c.2487-4T>G rs900632187
NM_001378615.1(CC2D2A):c.2487-8C>A rs2475032910
NM_001378615.1(CC2D2A):c.2493G>A (p.Leu831=) rs2475032968
NM_001378615.1(CC2D2A):c.2523C>T (p.Gly841=) rs2475033155
NM_001378615.1(CC2D2A):c.2529A>C (p.Ser843=) rs1249957476
NM_001378615.1(CC2D2A):c.2604C>A (p.Ala868=) rs763477348
NM_001378615.1(CC2D2A):c.2604C>T (p.Ala868=) rs763477348
NM_001378615.1(CC2D2A):c.2610G>A (p.Leu870=) rs2475033565
NM_001378615.1(CC2D2A):c.2625+14_2625+19del rs2475033690
NM_001378615.1(CC2D2A):c.2625+19A>T rs1387735671
NM_001378615.1(CC2D2A):c.2625+9C>G rs1167453314
NM_001378615.1(CC2D2A):c.2625+9C>T rs1167453314
NM_001378615.1(CC2D2A):c.2626-6T>C rs1719338243
NM_001378615.1(CC2D2A):c.2628T>G (p.Val876=)
NM_001378615.1(CC2D2A):c.2649T>C (p.Tyr883=) rs2475041051
NM_001378615.1(CC2D2A):c.2670G>A (p.Leu890=) rs149118282
NM_001378615.1(CC2D2A):c.2688G>A (p.Glu896=) rs2109058103
NM_001378615.1(CC2D2A):c.2700T>G (p.Val900=)
NM_001378615.1(CC2D2A):c.2718T>C (p.Asn906=) rs2475041355
NM_001378615.1(CC2D2A):c.2724C>T (p.Ser908=) rs757517563
NM_001378615.1(CC2D2A):c.2772C>T (p.Phe924=) rs1719347758
NM_001378615.1(CC2D2A):c.2793A>G (p.Pro931=)
NM_001378615.1(CC2D2A):c.2796C>T (p.Val932=) rs2475041730
NM_001378615.1(CC2D2A):c.279A>T (p.Thr93=) rs987594766
NM_001378615.1(CC2D2A):c.2829+20G>T rs751376075
NM_001378615.1(CC2D2A):c.2830-14C>T rs1326014533
NM_001378615.1(CC2D2A):c.2830-16C>A rs779219664
NM_001378615.1(CC2D2A):c.2830-18G>T rs969121617
NM_001378615.1(CC2D2A):c.2830-20T>C rs2475046285
NM_001378615.1(CC2D2A):c.2830-8A>T rs1451842906
NM_001378615.1(CC2D2A):c.2835T>C (p.Tyr945=) rs1719439232
NM_001378615.1(CC2D2A):c.2853C>T (p.Asp951=) rs2475046512
NM_001378615.1(CC2D2A):c.2871C>G (p.Thr957=) rs2475046625
NM_001378615.1(CC2D2A):c.2874G>A (p.Lys958=) rs2475046648
NM_001378615.1(CC2D2A):c.2886C>T (p.Asp962=) rs2109060199
NM_001378615.1(CC2D2A):c.2892T>C (p.His964=) rs1315183237
NM_001378615.1(CC2D2A):c.2916C>G (p.Leu972=) rs1719444806
NM_001378615.1(CC2D2A):c.2922+13A>T rs1432325657
NM_001378615.1(CC2D2A):c.2922+17A>G rs1719445854
NM_001378615.1(CC2D2A):c.2923-10C>A rs765343232
NM_001378615.1(CC2D2A):c.2923-12T>C rs2475051354
NM_001378615.1(CC2D2A):c.2923-3del rs2475051393
NM_001378615.1(CC2D2A):c.2923-6C>A rs2475051382
NM_001378615.1(CC2D2A):c.2934A>G (p.Ser978=) rs2475051463
NM_001378615.1(CC2D2A):c.294T>C (p.Phe98=) rs2474888754
NM_001378615.1(CC2D2A):c.2961A>G (p.Lys987=) rs2475051554
NM_001378615.1(CC2D2A):c.2970T>C (p.Phe990=) rs2475051599
NM_001378615.1(CC2D2A):c.2991A>G (p.Val997=) rs2109061736
NM_001378615.1(CC2D2A):c.3014+10A>C rs1307825042
NM_001378615.1(CC2D2A):c.3014+10del rs1719536789
NM_001378615.1(CC2D2A):c.3014+11_3014+14del rs1181395692
NM_001378615.1(CC2D2A):c.3014+18_3014+21del rs2475051860
NM_001378615.1(CC2D2A):c.3014+19A>G
NM_001378615.1(CC2D2A):c.3014+19A>T rs1719538520
NM_001378615.1(CC2D2A):c.3014+20T>C rs1719539034
NM_001378615.1(CC2D2A):c.3014+24_3014+26del rs780647289
NM_001378615.1(CC2D2A):c.3014+8T>C rs1410013441
NM_001378615.1(CC2D2A):c.3015-14T>C rs1560184540
NM_001378615.1(CC2D2A):c.3015-19C>G rs2475061270
NM_001378615.1(CC2D2A):c.3064C>A (p.Arg1022=) rs751865030
NM_001378615.1(CC2D2A):c.3075A>G (p.Arg1025=) rs776450485
NM_001378615.1(CC2D2A):c.3084G>A (p.Arg1028=)
NM_001378615.1(CC2D2A):c.3099C>T (p.Ala1033=)
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001378615.1(CC2D2A):c.3147A>G (p.Arg1049=) rs2475062051
NM_001378615.1(CC2D2A):c.3150T>G (p.Ala1050=)
NM_001378615.1(CC2D2A):c.315G>A (p.Arg105=) rs886113667
NM_001378615.1(CC2D2A):c.3177A>G (p.Ala1059=) rs2475062195
NM_001378615.1(CC2D2A):c.3180G>A (p.Val1060=) rs2475062224
NM_001378615.1(CC2D2A):c.3182+10C>T rs2475062322
NM_001378615.1(CC2D2A):c.3182+13C>A rs2475062341
NM_001378615.1(CC2D2A):c.3183-12T>G rs1719930390
NM_001378615.1(CC2D2A):c.3183-20T>G rs1719930160
NM_001378615.1(CC2D2A):c.3183-5C>A rs763724257
NM_001378615.1(CC2D2A):c.3183-5C>G rs763724257
NM_001378615.1(CC2D2A):c.3213G>A (p.Arg1071=) rs2109070172
NM_001378615.1(CC2D2A):c.322T>C (p.Leu108=) rs1172857572
NM_001378615.1(CC2D2A):c.3261C>A (p.Thr1087=)
NM_001378615.1(CC2D2A):c.3276C>T (p.Tyr1092=) rs1719937487
NM_001378615.1(CC2D2A):c.3282C>G (p.Leu1094=) rs766917693
NM_001378615.1(CC2D2A):c.3282C>T (p.Leu1094=)
NM_001378615.1(CC2D2A):c.3288+12T>C rs781021291
NM_001378615.1(CC2D2A):c.3288+16C>A rs2109070306
NM_001378615.1(CC2D2A):c.3289-15G>C rs2109070538
NM_001378615.1(CC2D2A):c.3303C>G (p.Pro1101=) rs1426977779
NM_001378615.1(CC2D2A):c.3336C>T (p.Cys1112=) rs2475074578
NM_001378615.1(CC2D2A):c.334A>C (p.Arg112=) rs2108998391
NM_001378615.1(CC2D2A):c.336+13A>C
NM_001378615.1(CC2D2A):c.336+14C>T rs2474889022
NM_001378615.1(CC2D2A):c.336+15A>G rs2108998411
NM_001378615.1(CC2D2A):c.336+19A>G rs2474889032
NM_001378615.1(CC2D2A):c.336+20T>C rs2474889037
NM_001378615.1(CC2D2A):c.336+3GA[2] rs2474888988
NM_001378615.1(CC2D2A):c.3360A>G (p.Pro1120=) rs2109070685
NM_001378615.1(CC2D2A):c.337-14G>T rs2474890104
NM_001378615.1(CC2D2A):c.337-18T>C rs2474890097
NM_001378615.1(CC2D2A):c.337-7T>C rs1056599604
NM_001378615.1(CC2D2A):c.3398+16T>C
NM_001378615.1(CC2D2A):c.3398+18T>C rs1265719141
NM_001378615.1(CC2D2A):c.3398+19T>C rs2475074917
NM_001378615.1(CC2D2A):c.3398+20T>C
NM_001378615.1(CC2D2A):c.3398+7A>T rs772784324
NM_001378615.1(CC2D2A):c.3398+7del rs2475074849
NM_001378615.1(CC2D2A):c.3399-12G>C rs1372008281
NM_001378615.1(CC2D2A):c.3399-14G>A rs1171443258
NM_001378615.1(CC2D2A):c.3399-9G>A
NM_001378615.1(CC2D2A):c.3399-9G>C
NM_001378615.1(CC2D2A):c.3405T>C (p.Pro1135=) rs2475079549
NM_001378615.1(CC2D2A):c.3426C>T (p.Ala1142=) rs1196435663
NM_001378615.1(CC2D2A):c.3447T>C (p.Asp1149=) rs772795748
NM_001378615.1(CC2D2A):c.3453G>A (p.Val1151=) rs2475079858
NM_001378615.1(CC2D2A):c.3456C>T (p.Phe1152=) rs2109072690
NM_001378615.1(CC2D2A):c.3465T>A (p.Ile1155=) rs2475079957
NM_001378615.1(CC2D2A):c.3478C>T (p.Leu1160=) rs776074900
NM_001378615.1(CC2D2A):c.3480G>A (p.Leu1160=) rs771914973
NM_001378615.1(CC2D2A):c.3486T>C (p.Asp1162=) rs2475080045
NM_001378615.1(CC2D2A):c.348A>G (p.Glu116=) rs765241815
NM_001378615.1(CC2D2A):c.3490T>C (p.Leu1164=) rs2475080056
NM_001378615.1(CC2D2A):c.3495+11A>C rs2109072768
NM_001378615.1(CC2D2A):c.3495+11A>G rs2109072768
NM_001378615.1(CC2D2A):c.3495+20A>G rs2475080208
NM_001378615.1(CC2D2A):c.3496-11C>A rs1001192465
NM_001378615.1(CC2D2A):c.3496-14C>T rs1345798116
NM_001378615.1(CC2D2A):c.3496-15C>T rs756695832
NM_001378615.1(CC2D2A):c.3496-18T>C rs2475083008
NM_001378615.1(CC2D2A):c.3496-19C>T rs1407278819
NM_001378615.1(CC2D2A):c.3496-20A>G rs1720099977
NM_001378615.1(CC2D2A):c.3496-7C>T rs2475083054
NM_001378615.1(CC2D2A):c.3496-8del rs2475083049
NM_001378615.1(CC2D2A):c.3519A>T (p.Gly1173=) rs2109073915
NM_001378615.1(CC2D2A):c.351T>C (p.Ser117=)
NM_001378615.1(CC2D2A):c.3549G>A (p.Leu1183=)
NM_001378615.1(CC2D2A):c.354A>T (p.Ala118=) rs1247636826
NM_001378615.1(CC2D2A):c.3567A>G (p.Pro1189=) rs1553841140
NM_001378615.1(CC2D2A):c.3576A>G (p.Thr1192=) rs953629205
NM_001378615.1(CC2D2A):c.357G>A (p.Leu119=) rs767331450
NM_001378615.1(CC2D2A):c.3585C>T (p.Phe1195=) rs780885857
NM_001378615.1(CC2D2A):c.3594+11A>G rs2475083569
NM_001378615.1(CC2D2A):c.3594+14G>A rs2475083580
NM_001378615.1(CC2D2A):c.3594+9C>G rs1481267152
NM_001378615.1(CC2D2A):c.3595-12T>C rs1393531283
NM_001378615.1(CC2D2A):c.3595-13A>G rs2475092727
NM_001378615.1(CC2D2A):c.3595-15A>G rs2475092717
NM_001378615.1(CC2D2A):c.3595-15A>T rs2475092717
NM_001378615.1(CC2D2A):c.3595-16C>G
NM_001378615.1(CC2D2A):c.3595-4A>T rs2475092760
NM_001378615.1(CC2D2A):c.3648G>A (p.Lys1216=) rs1229073162
NM_001378615.1(CC2D2A):c.3672G>A (p.Arg1224=) rs2475093108
NM_001378615.1(CC2D2A):c.3684T>C (p.Ser1228=) rs1251154123
NM_001378615.1(CC2D2A):c.369C>A (p.Ile123=) rs2474890324
NM_001378615.1(CC2D2A):c.3717C>G (p.Thr1239=) rs750077436
NM_001378615.1(CC2D2A):c.3744G>A (p.Leu1248=) rs755747140
NM_001378615.1(CC2D2A):c.3771+12T>C rs1205771467
NM_001378615.1(CC2D2A):c.3771+16T>G rs1720304022
NM_001378615.1(CC2D2A):c.3771+7A>C rs2475093601
NM_001378615.1(CC2D2A):c.3771+8C>T rs1439534382
NM_001378615.1(CC2D2A):c.3772-10C>T rs1348829132
NM_001378615.1(CC2D2A):c.3772-11dup rs1239899480
NM_001378615.1(CC2D2A):c.3772-14C>T rs1720585942
NM_001378615.1(CC2D2A):c.3772-16G>A rs2475105838
NM_001378615.1(CC2D2A):c.3772-7T>C rs2109083258
NM_001378615.1(CC2D2A):c.3777G>A (p.Glu1259=) rs2475105943
NM_001378615.1(CC2D2A):c.3783G>A (p.Gln1261=) rs1420749120
NM_001378615.1(CC2D2A):c.3789T>C (p.Asp1263=) rs1181916383
NM_001378615.1(CC2D2A):c.3810T>A (p.Thr1270=) rs763413390
NM_001378615.1(CC2D2A):c.3834C>G (p.Ala1278=) rs751897663
NM_001378615.1(CC2D2A):c.3834C>T (p.Ala1278=) rs751897663
NM_001378615.1(CC2D2A):c.3837A>G (p.Leu1279=) rs1560192604
NM_001378615.1(CC2D2A):c.3855G>A (p.Gln1285=)
NM_001378615.1(CC2D2A):c.3861T>G (p.Leu1287=) rs2475106165
NM_001378615.1(CC2D2A):c.3885A>G (p.Gly1295=) rs764521697
NM_001378615.1(CC2D2A):c.3891T>G (p.Thr1297=) rs2475106265
NM_001378615.1(CC2D2A):c.39+10C>A rs1321378459
NM_001378615.1(CC2D2A):c.39+16G>C rs2474814596
NM_001378615.1(CC2D2A):c.39+20T>C rs2474814607
NM_001378615.1(CC2D2A):c.3900C>T (p.Ile1300=) rs2109083429
NM_001378615.1(CC2D2A):c.390C>T (p.Arg130=) rs2474890407
NM_001378615.1(CC2D2A):c.3919T>C (p.Leu1307=) rs2475106397
NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=) rs762297266
NM_001378615.1(CC2D2A):c.3927T>G (p.Pro1309=) rs2475106436
NM_001378615.1(CC2D2A):c.3936G>A (p.Glu1312=) rs1217617600
NM_001378615.1(CC2D2A):c.394C>A (p.Arg132=) rs377177061
NM_001378615.1(CC2D2A):c.3957T>C (p.Asn1319=) rs2109083467
NM_001378615.1(CC2D2A):c.3975+11C>A rs2475106623
NM_001378615.1(CC2D2A):c.3975+12A>G rs2475106630
NM_001378615.1(CC2D2A):c.3975+17C>G rs2109083516
NM_001378615.1(CC2D2A):c.3975+19del rs766892031
NM_001378615.1(CC2D2A):c.3975+19dup rs766892031
NM_001378615.1(CC2D2A):c.3975+8T>C rs1421191118
NM_001378615.1(CC2D2A):c.3976-19G>T rs2475119508
NM_001378615.1(CC2D2A):c.3976-5T>C rs1186305213
NM_001378615.1(CC2D2A):c.3993T>C (p.Tyr1331=) rs1003998772
NM_001378615.1(CC2D2A):c.40-13C>T rs2474822899
NM_001378615.1(CC2D2A):c.40-14G>A
NM_001378615.1(CC2D2A):c.40-18T>G rs2474822870
NM_001378615.1(CC2D2A):c.4014G>A (p.Leu1338=) rs2475119714
NM_001378615.1(CC2D2A):c.4023T>C (p.Thr1341=) rs2475119761
NM_001378615.1(CC2D2A):c.4035T>A (p.Gly1345=)
NM_001378615.1(CC2D2A):c.4050C>G (p.Leu1350=) rs2475119831
NM_001378615.1(CC2D2A):c.4059A>G (p.Thr1353=) rs1486885138
NM_001378615.1(CC2D2A):c.4065+10_4065+11delinsAG rs2109088612
NM_001378615.1(CC2D2A):c.4065+12T>G rs1720851699
NM_001378615.1(CC2D2A):c.4065+9TTC[2] rs755600533
NM_001378615.1(CC2D2A):c.4066-10T>C rs2475123784
NM_001378615.1(CC2D2A):c.4066-11C>A rs1412529846
NM_001378615.1(CC2D2A):c.4066-11_4066-10del rs778005768
NM_001378615.1(CC2D2A):c.4066-13_4066-12insG
NM_001378615.1(CC2D2A):c.4066-16T>G rs1451675588
NM_001378615.1(CC2D2A):c.4066-20T>A rs1174030292
NM_001378615.1(CC2D2A):c.4066-20T>C rs1174030292
NM_001378615.1(CC2D2A):c.4066-20T>G rs1174030292
NM_001378615.1(CC2D2A):c.408G>A (p.Lys136=) rs2474890476
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001378615.1(CC2D2A):c.4104T>C (p.His1368=) rs2475123920
NM_001378615.1(CC2D2A):c.4111C>T (p.Leu1371=) rs2475123932
NM_001378615.1(CC2D2A):c.4114T>C (p.Leu1372=) rs1720922343
NM_001378615.1(CC2D2A):c.4125C>T (p.Tyr1375=) rs2475123990
NM_001378615.1(CC2D2A):c.4128T>C (p.Phe1376=) rs1176238038
NM_001378615.1(CC2D2A):c.4149C>G (p.Ala1383=) rs2475124050
NM_001378615.1(CC2D2A):c.4179+17T>C rs2475124191
NM_001378615.1(CC2D2A):c.4179+7C>T
NM_001378615.1(CC2D2A):c.4179+8C>A rs2109090417
NM_001378615.1(CC2D2A):c.4179+8C>T rs2109090417
NM_001378615.1(CC2D2A):c.4180-11T>C
NM_001378615.1(CC2D2A):c.4180-20T>C rs2475127605
NM_001378615.1(CC2D2A):c.4188T>A (p.Thr1396=)
NM_001378615.1(CC2D2A):c.4191C>G (p.Ala1397=) rs1398517354
NM_001378615.1(CC2D2A):c.4197G>T (p.Val1399=)
NM_001378615.1(CC2D2A):c.4203T>G (p.Thr1401=) rs2475127748
NM_001378615.1(CC2D2A):c.4209G>A (p.Glu1403=) rs751624828
NM_001378615.1(CC2D2A):c.4221T>C (p.Tyr1407=) rs1421324906
NM_001378615.1(CC2D2A):c.4222T>C (p.Leu1408=) rs2475127849
NM_001378615.1(CC2D2A):c.4248T>C (p.His1416=) rs2475127949
NM_001378615.1(CC2D2A):c.4254T>C (p.Tyr1418=) rs1560196405
NM_001378615.1(CC2D2A):c.426A>G (p.Glu142=)
NM_001378615.1(CC2D2A):c.429T>C (p.Phe143=) rs2474890573
NM_001378615.1(CC2D2A):c.4305T>A (p.Gly1435=) rs1721005215
NM_001378615.1(CC2D2A):c.4314+7A>G rs2475128191
NM_001378615.1(CC2D2A):c.4315-15T>C rs2475144042
NM_001378615.1(CC2D2A):c.4315-16G>A rs1330706872
NM_001378615.1(CC2D2A):c.4315-19G>A rs2475144024
NM_001378615.1(CC2D2A):c.4315-7T>G rs2475144075
NM_001378615.1(CC2D2A):c.432C>G (p.Gly144=) rs1317820890
NM_001378615.1(CC2D2A):c.4335A>G (p.Arg1445=) rs2475144215
NM_001378615.1(CC2D2A):c.4351A>C (p.Arg1451=) rs2475144278
NM_001378615.1(CC2D2A):c.438+12C>T rs1484788961
NM_001378615.1(CC2D2A):c.438+15C>A
NM_001378615.1(CC2D2A):c.438+15C>T
NM_001378615.1(CC2D2A):c.438+15_438+18del rs1716044858
NM_001378615.1(CC2D2A):c.438+20C>T rs2474890673
NM_001378615.1(CC2D2A):c.439-13T>C rs1305181844
NM_001378615.1(CC2D2A):c.439-16T>C rs2474908907
NM_001378615.1(CC2D2A):c.439-20del rs2474908883
NM_001378615.1(CC2D2A):c.439-5T>C rs369244755
NM_001378615.1(CC2D2A):c.439-6A>C rs1716486206
NM_001378615.1(CC2D2A):c.439-8T>A rs969487324
NM_001378615.1(CC2D2A):c.439-8T>G rs969487324
NM_001378615.1(CC2D2A):c.4407C>T (p.Ser1469=) rs587779732
NM_001378615.1(CC2D2A):c.4419T>C (p.Pro1473=) rs1443162563
NM_001378615.1(CC2D2A):c.441A>G (p.Pro147=) rs1280945810
NM_001378615.1(CC2D2A):c.4425T>C (p.Leu1475=) rs2475144513
NM_001378615.1(CC2D2A):c.4428C>T (p.Ser1476=) rs2475144529
NM_001378615.1(CC2D2A):c.4434T>A (p.Val1478=) rs1367121362
NM_001378615.1(CC2D2A):c.4437+12T>C rs2475144608
NM_001378615.1(CC2D2A):c.4437+7del rs1386029753
NM_001378615.1(CC2D2A):c.4438-18C>A rs2475147961
NM_001378615.1(CC2D2A):c.4438-20A>T rs1262685166
NM_001378615.1(CC2D2A):c.4464A>T (p.Ser1488=) rs1277536185
NM_001378615.1(CC2D2A):c.4491A>G (p.Gln1497=) rs863225179
NM_001378615.1(CC2D2A):c.4494C>T (p.Asp1498=) rs1216290227
NM_001378615.1(CC2D2A):c.4496+15A>G rs2475148276
NM_001378615.1(CC2D2A):c.4496+16T>C rs1405641947
NM_001378615.1(CC2D2A):c.4496+7T>C rs1721369727
NM_001378615.1(CC2D2A):c.4497-15A>C rs2475156378
NM_001378615.1(CC2D2A):c.4497-15_4497-14del rs2148495845
NM_001378615.1(CC2D2A):c.4497-16T>C
NM_001378615.1(CC2D2A):c.4497-19del rs2475156360
NM_001378615.1(CC2D2A):c.4497-6G>T rs2475156400
NM_001378615.1(CC2D2A):c.4536G>A (p.Arg1512=) rs2475156873
NM_001378615.1(CC2D2A):c.453A>G (p.Val151=) rs2474909014
NM_001378615.1(CC2D2A):c.4542C>A (p.Arg1514=) rs1577406383
NM_001378615.1(CC2D2A):c.4545T>C (p.His1515=) rs2475156921
NM_001378615.1(CC2D2A):c.4551T>C (p.Thr1517=) rs756862259
NM_001378615.1(CC2D2A):c.4554G>C (p.Arg1518=) rs755691801
NM_001378615.1(CC2D2A):c.4569T>C (p.Cys1523=) rs1721486976
NM_001378615.1(CC2D2A):c.4602A>G (p.Leu1534=) rs2475157189
NM_001378615.1(CC2D2A):c.4632T>C (p.Asp1544=) rs747163468
NM_001378615.1(CC2D2A):c.465A>G (p.Gln155=) rs2474909060
NM_001378615.1(CC2D2A):c.4672A>C (p.Arg1558=) rs1721493978
NM_001378615.1(CC2D2A):c.4674+12A>G rs2148496063
NM_001378615.1(CC2D2A):c.4674+14G>A
NM_001378615.1(CC2D2A):c.4674+19C>G rs2475157545
NM_001378615.1(CC2D2A):c.4675-10T>A rs2148497339
NM_001378615.1(CC2D2A):c.4675-11T>C rs1242070238
NM_001378615.1(CC2D2A):c.4675-13T>C rs2475162590
NM_001378615.1(CC2D2A):c.4704T>C (p.Tyr1568=) rs769893581
NM_001378615.1(CC2D2A):c.4725T>C (p.Ile1575=) rs2475163094
NM_001378615.1(CC2D2A):c.4731T>C (p.Ala1577=) rs772540373
NM_001378615.1(CC2D2A):c.4746A>C (p.Gly1582=) rs2148497436
NM_001378615.1(CC2D2A):c.4749A>C (p.Val1583=)
NM_001378615.1(CC2D2A):c.4767T>C (p.Pro1589=) rs2475163296
NM_001378615.1(CC2D2A):c.4773T>C (p.Val1591=) rs2475163330
NM_001378615.1(CC2D2A):c.477C>T (p.Asp159=) rs1234067914
NM_001378615.1(CC2D2A):c.4806C>T (p.Tyr1602=)
NM_001378615.1(CC2D2A):c.4848T>C (p.Leu1616=) rs1396115620
NM_001378615.1(CC2D2A):c.4854C>A (p.Arg1618=) rs1054718381
NM_001378615.1(CC2D2A):c.4863A>G (p.Ter1621=) rs1553845963
NM_001378615.1(CC2D2A):c.48T>C (p.Ile16=) rs2474823014
NM_001378615.1(CC2D2A):c.495A>G (p.Arg165=) rs1716489888
NM_001378615.1(CC2D2A):c.501G>A (p.Lys167=) rs190694237
NM_001378615.1(CC2D2A):c.540+10C>G rs2474909452
NM_001378615.1(CC2D2A):c.540+18T>C rs774504971
NM_001378615.1(CC2D2A):c.540+20A>G rs2474909487
NM_001378615.1(CC2D2A):c.541-11C>G rs2474911865
NM_001378615.1(CC2D2A):c.541-12G>A rs1057084685
NM_001378615.1(CC2D2A):c.541-16C>T rs2474911844
NM_001378615.1(CC2D2A):c.541-18C>T rs1577336578
NM_001378615.1(CC2D2A):c.541-5G>T rs369022150
NM_001378615.1(CC2D2A):c.543T>A (p.Val181=) rs2474911931
NM_001378615.1(CC2D2A):c.54T>C (p.Asn18=) rs2474823061
NM_001378615.1(CC2D2A):c.551G>C (p.Gly184Ala) rs369902469
NM_001378615.1(CC2D2A):c.552C>A (p.Gly184=) rs2474911956
NM_001378615.1(CC2D2A):c.555C>T (p.Phe185=) rs2474911959
NM_001378615.1(CC2D2A):c.612A>G (p.Glu204=) rs1716557778
NM_001378615.1(CC2D2A):c.615A>T (p.Gly205=) rs2474912130
NM_001378615.1(CC2D2A):c.618A>C (p.Ser206=) rs1358357587
NM_001378615.1(CC2D2A):c.630A>G (p.Pro210=) rs2474912179
NM_001378615.1(CC2D2A):c.639A>G (p.Arg213=) rs750290771
NM_001378615.1(CC2D2A):c.63T>C (p.Asp21=) rs1714407530
NM_001378615.1(CC2D2A):c.669G>A (p.Glu223=) rs2474912313
NM_001378615.1(CC2D2A):c.693T>G (p.Pro231=) rs2474912393
NM_001378615.1(CC2D2A):c.717+12C>G rs776829032
NM_001378615.1(CC2D2A):c.717+12C>T rs776829032
NM_001378615.1(CC2D2A):c.717+13A>G rs2109007872
NM_001378615.1(CC2D2A):c.717+15G>A rs2474912575
NM_001378615.1(CC2D2A):c.717+17T>C
NM_001378615.1(CC2D2A):c.717+19G>A rs2474912591
NM_001378615.1(CC2D2A):c.718-18C>T rs1029316601
NM_001378615.1(CC2D2A):c.718-19A>G rs1392677458
NM_001378615.1(CC2D2A):c.718-20T>C rs2474920789
NM_001378615.1(CC2D2A):c.718-4G>A rs1306013126
NM_001378615.1(CC2D2A):c.718-5T>C rs1004108988
NM_001378615.1(CC2D2A):c.718-9A>G rs2474920837
NM_001378615.1(CC2D2A):c.729A>G (p.Glu243=) rs2474920888
NM_001378615.1(CC2D2A):c.730C>T (p.Leu244=)
NM_001378615.1(CC2D2A):c.750C>A (p.Ala250=) rs200765238
NM_001378615.1(CC2D2A):c.750C>G (p.Ala250=) rs200765238
NM_001378615.1(CC2D2A):c.750C>T (p.Ala250=) rs200765238
NM_001378615.1(CC2D2A):c.762A>C (p.Leu254=) rs116198081
NM_001378615.1(CC2D2A):c.765G>A (p.Leu255=) rs2474921032
NM_001378615.1(CC2D2A):c.816T>C (p.Tyr272=) rs2109011659
NM_001378615.1(CC2D2A):c.834G>A (p.Arg278=) rs1716768764
NM_001378615.1(CC2D2A):c.861C>T (p.Phe287=)
NM_001378615.1(CC2D2A):c.876G>A (p.Gln292=) rs765304587
NM_001378615.1(CC2D2A):c.880+16A>G rs764403458
NM_001378615.1(CC2D2A):c.881-14del rs2474924196
NM_001378615.1(CC2D2A):c.881-5T>A rs1577340398
NM_001378615.1(CC2D2A):c.881-7G>T rs1285046479
NM_001378615.1(CC2D2A):c.888A>G (p.Thr296=) rs1716838439
NM_001378615.1(CC2D2A):c.90C>T (p.Asn30=) rs530243571
NM_001378615.1(CC2D2A):c.93A>T (p.Ser31=)
NM_001378615.1(CC2D2A):c.948C>A (p.Thr316=) rs201439700
NM_001378615.1(CC2D2A):c.963G>A (p.Glu321=) rs1207496034
NM_001378615.1(CC2D2A):c.984C>T (p.Asn328=)
NM_015272.5(RPGRIP1L):c.1005G>A (p.Lys335=) rs1968861002
NM_015272.5(RPGRIP1L):c.1029+10C>T rs542635220
NM_015272.5(RPGRIP1L):c.1029+15A>C rs1968856340
NM_015272.5(RPGRIP1L):c.1029+15A>T rs1968856340
NM_015272.5(RPGRIP1L):c.1029+16G>A rs2544489422
NM_015272.5(RPGRIP1L):c.1029+20A>G
NM_015272.5(RPGRIP1L):c.1029+9C>G rs2151244866
NM_015272.5(RPGRIP1L):c.1029+9C>T rs2151244866
NM_015272.5(RPGRIP1L):c.102G>A (p.Arg34=) rs1598420614
NM_015272.5(RPGRIP1L):c.1030-13A>G rs1176138913
NM_015272.5(RPGRIP1L):c.1030-18A>G rs2544475584
NM_015272.5(RPGRIP1L):c.1030-20T>C rs2544475672
NM_015272.5(RPGRIP1L):c.1030-7A>G rs2151236913
NM_015272.5(RPGRIP1L):c.1032G>A (p.Leu344=) rs1598372472
NM_015272.5(RPGRIP1L):c.1032G>C (p.Leu344=) rs1598372472
NM_015272.5(RPGRIP1L):c.1032G>T (p.Leu344=) rs1598372472
NM_015272.5(RPGRIP1L):c.1035G>A (p.Gln345=) rs1437242760
NM_015272.5(RPGRIP1L):c.1047T>C (p.Asn349=) rs2151236754
NM_015272.5(RPGRIP1L):c.1062A>G (p.Glu354=) rs2151236607
NM_015272.5(RPGRIP1L):c.1065G>A (p.Arg355=) rs2151236560
NM_015272.5(RPGRIP1L):c.1071T>G (p.Leu357=) rs549925964
NM_015272.5(RPGRIP1L):c.1077G>A (p.Lys359=) rs2544473759
NM_015272.5(RPGRIP1L):c.1080A>G (p.Glu360=) rs2151236444
NM_015272.5(RPGRIP1L):c.1089T>C (p.Asp363=) rs1448419533
NM_015272.5(RPGRIP1L):c.1092A>G (p.Lys364=) rs766514324
NM_015272.5(RPGRIP1L):c.1103+17T>G rs768230739
NM_015272.5(RPGRIP1L):c.1103+18G>A rs373574445
NM_015272.5(RPGRIP1L):c.1103+8G>A rs564455571
NM_015272.5(RPGRIP1L):c.1103+9T>A rs2151236168
NM_015272.5(RPGRIP1L):c.1103+9T>C rs2151236168
NM_015272.5(RPGRIP1L):c.1104-13G>T rs775179294
NM_015272.5(RPGRIP1L):c.1104-4G>C rs2544401372
NM_015272.5(RPGRIP1L):c.1110C>T (p.Phe370=) rs2151199080
NM_015272.5(RPGRIP1L):c.1116T>C (p.Ala372=) rs1304846939
NM_015272.5(RPGRIP1L):c.1119C>G (p.Ala373=) rs1347730821
NM_015272.5(RPGRIP1L):c.1137G>A (p.Lys379=) rs780306746
NM_015272.5(RPGRIP1L):c.1143G>A (p.Lys381=) rs949199630
NM_015272.5(RPGRIP1L):c.1149A>G (p.Gln383=) rs2151198800
NM_015272.5(RPGRIP1L):c.114T>A (p.Ser38=) rs2151379752
NM_015272.5(RPGRIP1L):c.1155G>T (p.Leu385=) rs536376284
NM_015272.5(RPGRIP1L):c.1161G>T (p.Val387=) rs2151198681
NM_015272.5(RPGRIP1L):c.1167T>A (p.Ile389=) rs1271430052
NM_015272.5(RPGRIP1L):c.1176C>G (p.Leu392=) rs759115653
NM_015272.5(RPGRIP1L):c.117C>G (p.Arg39=) rs763892496
NM_015272.5(RPGRIP1L):c.120G>A (p.Gln40=) rs1660515981
NM_015272.5(RPGRIP1L):c.1218C>A (p.Ile406=) rs1598357541
NM_015272.5(RPGRIP1L):c.1224C>T (p.Asp408=) rs1489136375
NM_015272.5(RPGRIP1L):c.1243+7T>A rs1302178966
NM_015272.5(RPGRIP1L):c.1243+8T>C rs2151198059
NM_015272.5(RPGRIP1L):c.1243+9G>A rs781524446
NM_015272.5(RPGRIP1L):c.1244-10del rs1967515071
NM_015272.5(RPGRIP1L):c.1244-9A>G rs2151165404
NM_015272.5(RPGRIP1L):c.1251T>C (p.Asn417=) rs2151165227
NM_015272.5(RPGRIP1L):c.1269G>A (p.Glu423=) rs2151165075
NM_015272.5(RPGRIP1L):c.126G>A (p.Val42=) rs1423077786
NM_015272.5(RPGRIP1L):c.1293T>C (p.Tyr431=) rs2151164876
NM_015272.5(RPGRIP1L):c.1344C>T (p.Tyr448=) rs1967498439
NM_015272.5(RPGRIP1L):c.1350+17_1350+20del rs1161095481
NM_015272.5(RPGRIP1L):c.1351-12A>C rs374000859
NM_015272.5(RPGRIP1L):c.1351-12A>G rs374000859
NM_015272.5(RPGRIP1L):c.1351-13dup rs2544301098
NM_015272.5(RPGRIP1L):c.1351-15_1351-12del rs2544301067
NM_015272.5(RPGRIP1L):c.1351-15del
NM_015272.5(RPGRIP1L):c.1351-16A>T rs1300925245
NM_015272.5(RPGRIP1L):c.1351-18T>C rs2151162630
NM_015272.5(RPGRIP1L):c.1351-4G>A rs1479026011
NM_015272.5(RPGRIP1L):c.1351-9C>T rs2544300888
NM_015272.5(RPGRIP1L):c.1365T>C (p.Asn455=)
NM_015272.5(RPGRIP1L):c.1374A>G (p.Glu458=) rs2151162320
NM_015272.5(RPGRIP1L):c.1377G>A (p.Leu459=) rs1967457074
NM_015272.5(RPGRIP1L):c.1386T>C (p.Ala462=) rs2544299505
NM_015272.5(RPGRIP1L):c.1401+12A>T rs2151161924
NM_015272.5(RPGRIP1L):c.1401+13A>G rs2544298612
NM_015272.5(RPGRIP1L):c.1401+14C>T rs2544298589
NM_015272.5(RPGRIP1L):c.1401+16T>C rs2544298557
NM_015272.5(RPGRIP1L):c.1401+18A>G rs749257227
NM_015272.5(RPGRIP1L):c.1401+20C>A rs1467459937
NM_015272.5(RPGRIP1L):c.1401+8T>C rs2151161961
NM_015272.5(RPGRIP1L):c.1401+9C>G rs768434507
NM_015272.5(RPGRIP1L):c.1401+9C>T rs768434507
NM_015272.5(RPGRIP1L):c.1402-11T>C rs2544284644
NM_015272.5(RPGRIP1L):c.1402-13dup rs1361189318
NM_015272.5(RPGRIP1L):c.1402-14G>A rs991692198
NM_015272.5(RPGRIP1L):c.1402-18A>G rs2544284799
NM_015272.5(RPGRIP1L):c.1404T>C (p.Ala468=) rs2151157523
NM_015272.5(RPGRIP1L):c.1416A>G (p.Gln472=) rs2151157400
NM_015272.5(RPGRIP1L):c.1419_1421del (p.Lys473del) rs760952407
NM_015272.5(RPGRIP1L):c.1428C>T (p.Asp476=) rs2151157288
NM_015272.5(RPGRIP1L):c.1437T>C (p.Phe479=) rs2151157214
NM_015272.5(RPGRIP1L):c.1455T>C (p.Ser485=) rs2544282829
NM_015272.5(RPGRIP1L):c.1479C>T (p.Arg493=) rs2544281997
NM_015272.5(RPGRIP1L):c.1491G>A (p.Glu497=)
NM_015272.5(RPGRIP1L):c.1492C>T (p.Leu498=) rs777340505
NM_015272.5(RPGRIP1L):c.1509A>G (p.Ala503=) rs2151156589
NM_015272.5(RPGRIP1L):c.1515G>A (p.Thr505=) rs1472969606
NM_015272.5(RPGRIP1L):c.1524G>A (p.Glu508=) rs1238972011
NM_015272.5(RPGRIP1L):c.1525C>T (p.Leu509=) rs780528142
NM_015272.5(RPGRIP1L):c.1536A>G (p.Thr512=) rs1020243535
NM_015272.5(RPGRIP1L):c.153A>G (p.Glu51=) rs1970746720
NM_015272.5(RPGRIP1L):c.1548A>G (p.Leu516=) rs2544280292
NM_015272.5(RPGRIP1L):c.1581+11dup rs2544279374
NM_015272.5(RPGRIP1L):c.1581+13A>G
NM_015272.5(RPGRIP1L):c.1581+15T>G rs1967355506
NM_015272.5(RPGRIP1L):c.1581+17A>G rs2544279189
NM_015272.5(RPGRIP1L):c.1581+20G>A rs2544279108
NM_015272.5(RPGRIP1L):c.1581+20G>C rs2544279108
NM_015272.5(RPGRIP1L):c.1581+9A>G rs763109605
NM_015272.5(RPGRIP1L):c.1582-17T>A
NM_015272.5(RPGRIP1L):c.1582-18T>C
NM_015272.5(RPGRIP1L):c.1582-20T>G rs1249212158
NM_015272.5(RPGRIP1L):c.1582-4G>A rs1967278713
NM_015272.5(RPGRIP1L):c.1587G>A (p.Glu529=) rs1217674348
NM_015272.5(RPGRIP1L):c.15T>A (p.Thr5=)
NM_015272.5(RPGRIP1L):c.1618T>C (p.Leu540=) rs1478742985
NM_015272.5(RPGRIP1L):c.1638C>G (p.Leu546=) rs2544264866
NM_015272.5(RPGRIP1L):c.1650G>A (p.Gln550=) rs2151150317
NM_015272.5(RPGRIP1L):c.1656T>C (p.Val552=) rs2151150242
NM_015272.5(RPGRIP1L):c.1656T>G (p.Val552=) rs2151150242
NM_015272.5(RPGRIP1L):c.1659T>C (p.His553=) rs1227717832
NM_015272.5(RPGRIP1L):c.1672A>C (p.Arg558=) rs2544263815
NM_015272.5(RPGRIP1L):c.1680A>G (p.Ala560=) rs2544263623
NM_015272.5(RPGRIP1L):c.1693C>T (p.Leu565=) rs2151149921
NM_015272.5(RPGRIP1L):c.1699+13C>T rs1212500499
NM_015272.5(RPGRIP1L):c.1699+14G>A rs188075133
NM_015272.5(RPGRIP1L):c.1699+14G>T rs188075133
NM_015272.5(RPGRIP1L):c.1699+17T>A rs2544262784
NM_015272.5(RPGRIP1L):c.1699+9T>C rs1967263684
NM_015272.5(RPGRIP1L):c.1700-16G>T rs1555604481
NM_015272.5(RPGRIP1L):c.1700-17T>C
NM_015272.5(RPGRIP1L):c.1700-4G>A rs1966916853
NM_015272.5(RPGRIP1L):c.1700-4G>T rs1966916853
NM_015272.5(RPGRIP1L):c.1700-9C>G rs2151128760
NM_015272.5(RPGRIP1L):c.1700-9C>T rs2151128760
NM_015272.5(RPGRIP1L):c.1746A>G (p.Lys582=) rs2151128298
NM_015272.5(RPGRIP1L):c.1773T>C (p.Val591=) rs2151128005
NM_015272.5(RPGRIP1L):c.1809C>G (p.Gly603=) rs375766769
NM_015272.5(RPGRIP1L):c.1815T>C (p.Asn605=) rs2151127604
NM_015272.5(RPGRIP1L):c.1827C>T (p.Ile609=) rs2544210666
NM_015272.5(RPGRIP1L):c.1830T>C (p.His610=) rs780359788
NM_015272.5(RPGRIP1L):c.1833C>T (p.Ile611=) rs756141067
NM_015272.5(RPGRIP1L):c.1854T>G (p.Ser618=) rs2544210046
NM_015272.5(RPGRIP1L):c.1860T>C (p.Val620=) rs2544209978
NM_015272.5(RPGRIP1L):c.1861T>C (p.Leu621=) rs2544209951
NM_015272.5(RPGRIP1L):c.1866G>A (p.Gln622=)
NM_015272.5(RPGRIP1L):c.1884G>A (p.Glu628=) rs2151126933
NM_015272.5(RPGRIP1L):c.1893T>G (p.Thr631=) rs2544208988
NM_015272.5(RPGRIP1L):c.1914T>C (p.Tyr638=) rs1444726635
NM_015272.5(RPGRIP1L):c.1926A>T (p.Leu642=) rs2544208039
NM_015272.5(RPGRIP1L):c.1935T>A (p.Thr645=) rs2151126431
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=) rs745879566
NM_015272.5(RPGRIP1L):c.1959C>T (p.Pro653=) rs1213772384
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=) rs138669723
NM_015272.5(RPGRIP1L):c.1974T>C (p.Thr658=) rs2544206604
NM_015272.5(RPGRIP1L):c.1986T>C (p.Leu662=) rs2151125842
NM_015272.5(RPGRIP1L):c.198G>A (p.Gln66=) rs2151379187
NM_015272.5(RPGRIP1L):c.1995T>C (p.Val665=) rs2151125697
NM_015272.5(RPGRIP1L):c.1998T>C (p.Asn666=) rs2544205817
NM_015272.5(RPGRIP1L):c.2008T>C (p.Leu670=) rs1162379929
NM_015272.5(RPGRIP1L):c.2022G>A (p.Gln674=) rs2544205252
NM_015272.5(RPGRIP1L):c.2040T>G (p.Leu680=) rs2544204983
NM_015272.5(RPGRIP1L):c.2064A>G (p.Thr688=) rs2544204299
NM_015272.5(RPGRIP1L):c.2067A>G (p.Glu689=) rs890062959
NM_015272.5(RPGRIP1L):c.2070T>C (p.Tyr690=) rs1362968368
NM_015272.5(RPGRIP1L):c.2076A>T (p.Thr692=)
NM_015272.5(RPGRIP1L):c.207C>G (p.Arg69=) rs2544752476
NM_015272.5(RPGRIP1L):c.2092T>C (p.Leu698=)
NM_015272.5(RPGRIP1L):c.2115A>G (p.Glu705=) rs1966876658
NM_015272.5(RPGRIP1L):c.2145T>C (p.Ser715=) rs2544202193
NM_015272.5(RPGRIP1L):c.2152+10A>C rs1966875026
NM_015272.5(RPGRIP1L):c.2152+10A>G rs1966875026
NM_015272.5(RPGRIP1L):c.2152+11T>C rs1966874927
NM_015272.5(RPGRIP1L):c.2152+19C>A rs754811161
NM_015272.5(RPGRIP1L):c.2152+7A>G rs2544201815
NM_015272.5(RPGRIP1L):c.2152+8C>G rs2151124212
NM_015272.5(RPGRIP1L):c.2153-12A>G rs2151102687
NM_015272.5(RPGRIP1L):c.2153-14G>A rs761842528
NM_015272.5(RPGRIP1L):c.2153-14G>C rs761842528
NM_015272.5(RPGRIP1L):c.2153-15T>C rs772173634
NM_015272.5(RPGRIP1L):c.2153-16A>G rs2544156147
NM_015272.5(RPGRIP1L):c.2153-16A>T rs2544156147
NM_015272.5(RPGRIP1L):c.2153-19G>A rs988899852
NM_015272.5(RPGRIP1L):c.2153-19G>T rs988899852
NM_015272.5(RPGRIP1L):c.2153-20_2153-18del rs2544156184
NM_015272.5(RPGRIP1L):c.2153-4G>A rs201380599
NM_015272.5(RPGRIP1L):c.2153-5del rs1567836020
NM_015272.5(RPGRIP1L):c.2172A>G (p.Pro724=) rs1472949647
NM_015272.5(RPGRIP1L):c.2184A>C (p.Thr728=) rs2151102385
NM_015272.5(RPGRIP1L):c.2184A>G (p.Thr728=) rs2151102385
NM_015272.5(RPGRIP1L):c.2190A>G (p.Glu730=) rs2544155129
NM_015272.5(RPGRIP1L):c.2193C>T (p.Tyr731=) rs2544155066
NM_015272.5(RPGRIP1L):c.2214C>G (p.Pro738=) rs2544154662
NM_015272.5(RPGRIP1L):c.2223A>G (p.Gln741=) rs113948999
NM_015272.5(RPGRIP1L):c.2230C>A (p.Arg744=) rs267604575
NM_015272.5(RPGRIP1L):c.2241A>T (p.Arg747=) rs2151101997
NM_015272.5(RPGRIP1L):c.2244A>G (p.Glu748=) rs2151101953
NM_015272.5(RPGRIP1L):c.225T>A (p.Ile75=) rs2151379048
NM_015272.5(RPGRIP1L):c.2262G>T (p.Gly754=) rs775616241
NM_015272.5(RPGRIP1L):c.2271A>G (p.Thr757=) rs2151101735
NM_015272.5(RPGRIP1L):c.2277T>C (p.Asn759=) rs2151101706
NM_015272.5(RPGRIP1L):c.2286G>A (p.Gly762=) rs769599317
NM_015272.5(RPGRIP1L):c.230+10A>G rs2544751750
NM_015272.5(RPGRIP1L):c.230+14G>A rs1970739259
NM_015272.5(RPGRIP1L):c.230+14G>T rs1970739259
NM_015272.5(RPGRIP1L):c.230+19T>C rs1298671149
NM_015272.5(RPGRIP1L):c.230+9A>G rs774753693
NM_015272.5(RPGRIP1L):c.2301G>A (p.Gln767=) rs1338012833
NM_015272.5(RPGRIP1L):c.2304+12T>G rs755432173
NM_015272.5(RPGRIP1L):c.2304+18T>A rs780469767
NM_015272.5(RPGRIP1L):c.2304+18T>C rs780469767
NM_015272.5(RPGRIP1L):c.2304+8C>T rs1421469718
NM_015272.5(RPGRIP1L):c.2304+9A>C rs1461433745
NM_015272.5(RPGRIP1L):c.2304+9A>G rs1461433745
NM_015272.5(RPGRIP1L):c.2304+9A>T rs1461433745
NM_015272.5(RPGRIP1L):c.2305-11T>C rs770567013
NM_015272.5(RPGRIP1L):c.2305-15T>C rs2544110105
NM_015272.5(RPGRIP1L):c.2305-8T>C rs953486434
NM_015272.5(RPGRIP1L):c.2305-8T>G rs953486434
NM_015272.5(RPGRIP1L):c.231-10A>C rs1970449618
NM_015272.5(RPGRIP1L):c.231-13A>C rs1030566201
NM_015272.5(RPGRIP1L):c.231-20T>C
NM_015272.5(RPGRIP1L):c.231-4C>G rs774628905
NM_015272.5(RPGRIP1L):c.231-5C>T rs2544710380
NM_015272.5(RPGRIP1L):c.2313G>A (p.Gln771=)
NM_015272.5(RPGRIP1L):c.2319A>C (p.Ala773=) rs2151084071
NM_015272.5(RPGRIP1L):c.2337C>G (p.Leu779=)
NM_015272.5(RPGRIP1L):c.2346A>G (p.Thr782=) rs2544109170
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=) rs1966518935
NM_015272.5(RPGRIP1L):c.2352C>A (p.Ser784=) rs2544109024
NM_015272.5(RPGRIP1L):c.2358T>C (p.Asp786=) rs1468139751
NM_015272.5(RPGRIP1L):c.2361C>A (p.Gly787=) rs1481436139
NM_015272.5(RPGRIP1L):c.2370T>C (p.Asn790=) rs2151083713
NM_015272.5(RPGRIP1L):c.2379C>T (p.His793=) rs1567830747
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=) rs1970448329
NM_015272.5(RPGRIP1L):c.2391A>G (p.Arg797=) rs2544107878
NM_015272.5(RPGRIP1L):c.2418A>G (p.Ala806=) rs1966512167
NM_015272.5(RPGRIP1L):c.2424C>T (p.His808=) rs771774137
NM_015272.5(RPGRIP1L):c.2425C>T (p.Leu809=) rs370180090
NM_015272.5(RPGRIP1L):c.243G>A (p.Lys81=) rs2544710013
NM_015272.5(RPGRIP1L):c.2445T>C (p.Val815=) rs2151083124
NM_015272.5(RPGRIP1L):c.2460T>C (p.Phe820=) rs778075524
NM_015272.5(RPGRIP1L):c.246A>G (p.Leu82=)
NM_015272.5(RPGRIP1L):c.2481A>C (p.Thr827=) rs2544105214
NM_015272.5(RPGRIP1L):c.2484T>G (p.Ala828=) rs2151082787
NM_015272.5(RPGRIP1L):c.2487C>T (p.Ile829=) rs2151082774
NM_015272.5(RPGRIP1L):c.2490T>C (p.Ile830=) rs2544105026
NM_015272.5(RPGRIP1L):c.2496T>C (p.Ser832=) rs2151082740
NM_015272.5(RPGRIP1L):c.2508A>G (p.Pro836=) rs753693082
NM_015272.5(RPGRIP1L):c.2508A>T (p.Pro836=) rs753693082
NM_015272.5(RPGRIP1L):c.250C>A (p.Arg84=) rs770098954
NM_015272.5(RPGRIP1L):c.2532C>T (p.Phe844=) rs760455293
NM_015272.5(RPGRIP1L):c.2571G>A (p.Lys857=) rs149833407
NM_015272.5(RPGRIP1L):c.2574A>G (p.Ser858=) rs1966500554
NM_015272.5(RPGRIP1L):c.2577G>A (p.Glu859=) rs2151082234
NM_015272.5(RPGRIP1L):c.2592T>C (p.Tyr864=) rs1467557937
NM_015272.5(RPGRIP1L):c.2601T>C (p.Asp867=) rs2544102002
NM_015272.5(RPGRIP1L):c.2604T>C (p.Asp868=) rs1567829935
NM_015272.5(RPGRIP1L):c.261T>C (p.Asn87=) rs752587948
NM_015272.5(RPGRIP1L):c.2634A>G (p.Gly878=) rs2544101216
NM_015272.5(RPGRIP1L):c.2658G>T (p.Ser886=) rs775153934
NM_015272.5(RPGRIP1L):c.267G>A (p.Lys89=) rs1434968352
NM_015272.5(RPGRIP1L):c.2683+15T>G rs749282849
NM_015272.5(RPGRIP1L):c.2684-14T>C rs915770620
NM_015272.5(RPGRIP1L):c.2684-15A>C rs1208734472
NM_015272.5(RPGRIP1L):c.2684-18A>G
NM_015272.5(RPGRIP1L):c.2706T>C (p.His902=)
NM_015272.5(RPGRIP1L):c.2730C>T (p.Ile910=) rs746015651
NM_015272.5(RPGRIP1L):c.2733T>C (p.His911=) rs780925825
NM_015272.5(RPGRIP1L):c.2740T>C (p.Leu914=) rs746733895
NM_015272.5(RPGRIP1L):c.2751A>G (p.Lys917=) rs2151059675
NM_015272.5(RPGRIP1L):c.2763T>G (p.Leu921=) rs2151059581
NM_015272.5(RPGRIP1L):c.2766A>G (p.Pro922=) rs1567825162
NM_015272.5(RPGRIP1L):c.2778A>G (p.Ser926=) rs1293313012
NM_015272.5(RPGRIP1L):c.2781A>T (p.Ile927=) rs1966210816
NM_015272.5(RPGRIP1L):c.2784A>G (p.Thr928=) rs890010714
NM_015272.5(RPGRIP1L):c.2787T>C (p.Thr929=)
NM_015272.5(RPGRIP1L):c.27A>C (p.Ala9=) rs765315344
NM_015272.5(RPGRIP1L):c.27A>G (p.Ala9=) rs765315344
NM_015272.5(RPGRIP1L):c.2823A>G (p.Pro941=) rs1966206646
NM_015272.5(RPGRIP1L):c.282G>T (p.Arg94=) rs2151353718
NM_015272.5(RPGRIP1L):c.2838A>G (p.Arg946=) rs754686404
NM_015272.5(RPGRIP1L):c.2853C>T (p.Ser951=) rs2151058811
NM_015272.5(RPGRIP1L):c.2859T>C (p.Val953=) rs763238701
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=) rs2151058712
NM_015272.5(RPGRIP1L):c.2874+10A>C rs2544044462
NM_015272.5(RPGRIP1L):c.2874+11G>A rs1253454453
NM_015272.5(RPGRIP1L):c.2874+13G>A rs2544044368
NM_015272.5(RPGRIP1L):c.2874+18_2874+19del rs1203730460
NM_015272.5(RPGRIP1L):c.2875-15G>A rs749908163
NM_015272.5(RPGRIP1L):c.2875-17T>C rs755648829
NM_015272.5(RPGRIP1L):c.2875-20C>T rs2544040736
NM_015272.5(RPGRIP1L):c.2875-4T>C rs2151057424
NM_015272.5(RPGRIP1L):c.2875-5C>G rs758927533
NM_015272.5(RPGRIP1L):c.2875-5C>T rs758927533
NM_015272.5(RPGRIP1L):c.2875-6T>C rs2544040358
NM_015272.5(RPGRIP1L):c.2875-7G>A rs778196818
NM_015272.5(RPGRIP1L):c.2883A>G (p.Arg961=) rs1459496882
NM_015272.5(RPGRIP1L):c.2886T>G (p.Pro962=) rs944691724
NM_015272.5(RPGRIP1L):c.2913A>C (p.Val971=) rs766575191
NM_015272.5(RPGRIP1L):c.2919G>A (p.Lys973=) rs2151056978
NM_015272.5(RPGRIP1L):c.291C>A (p.Gly97=) rs765369037
NM_015272.5(RPGRIP1L):c.2934G>A (p.Val978=) rs2544038619
NM_015272.5(RPGRIP1L):c.294C>T (p.Gly98=) rs776786509
NM_015272.5(RPGRIP1L):c.2958+10A>G rs2151056471
NM_015272.5(RPGRIP1L):c.2958+11G>T rs2544037550
NM_015272.5(RPGRIP1L):c.2958+4_2958+7dup rs2151056517
NM_015272.5(RPGRIP1L):c.2958+9T>A rs920679699
NM_015272.5(RPGRIP1L):c.2959-11A>G rs774428262
NM_015272.5(RPGRIP1L):c.2959-12C>T rs2544002903
NM_015272.5(RPGRIP1L):c.2959-13A>G rs1965978631
NM_015272.5(RPGRIP1L):c.2959-8A>G rs2544002792
NM_015272.5(RPGRIP1L):c.2964T>C (p.Thr988=) rs2151040746
NM_015272.5(RPGRIP1L):c.2964T>G (p.Thr988=) rs2151040746
NM_015272.5(RPGRIP1L):c.2976T>C (p.Pro992=) rs2151040617
NM_015272.5(RPGRIP1L):c.2985G>A (p.Arg995=) rs1437019797
NM_015272.5(RPGRIP1L):c.2988G>A (p.Lys996=) rs2544001732
NM_015272.5(RPGRIP1L):c.3024A>T (p.Ile1008=) rs767920573
NM_015272.5(RPGRIP1L):c.303G>T (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3042T>C (p.Thr1014=) rs1965969082
NM_015272.5(RPGRIP1L):c.3045_3060+12dup rs1965966957
NM_015272.5(RPGRIP1L):c.3051T>C (p.His1017=) rs762829599
NM_015272.5(RPGRIP1L):c.3060+10T>A rs2151039825
NM_015272.5(RPGRIP1L):c.3060+7A>G rs2544000028
NM_015272.5(RPGRIP1L):c.3060+8T>C rs2544000008
NM_015272.5(RPGRIP1L):c.3061-18G>T rs1231406468
NM_015272.5(RPGRIP1L):c.3061-7T>C rs1965940741
NM_015272.5(RPGRIP1L):c.3069A>G (p.Gln1023=) rs2543991829
NM_015272.5(RPGRIP1L):c.3078T>C (p.Ser1026=) rs1207172269
NM_015272.5(RPGRIP1L):c.3084T>C (p.Asp1028=) rs1965938868
NM_015272.5(RPGRIP1L):c.3090A>G (p.Val1030=) rs1965937231
NM_015272.5(RPGRIP1L):c.3138A>G (p.Leu1046=) rs1306386140
NM_015272.5(RPGRIP1L):c.3141A>G (p.Leu1047=) rs1313737236
NM_015272.5(RPGRIP1L):c.3156T>A (p.Leu1052=) rs2151036210
NM_015272.5(RPGRIP1L):c.3162A>G (p.Glu1054=) rs2151036177
NM_015272.5(RPGRIP1L):c.3168C>T (p.Ser1056=) rs2543988735
NM_015272.5(RPGRIP1L):c.3171G>A (p.Leu1057=) rs753642494
NM_015272.5(RPGRIP1L):c.3192A>C (p.Thr1064=) rs956639777
NM_015272.5(RPGRIP1L):c.3192A>G (p.Thr1064=) rs956639777
NM_015272.5(RPGRIP1L):c.3220+10T>C
NM_015272.5(RPGRIP1L):c.3220+7T>G rs2543987341
NM_015272.5(RPGRIP1L):c.3220+8T>C rs2543987304
NM_015272.5(RPGRIP1L):c.3221-13A>G
NM_015272.5(RPGRIP1L):c.3221-14T>A rs761174078
NM_015272.5(RPGRIP1L):c.3221-15T>C rs1397443762
NM_015272.5(RPGRIP1L):c.3221-17T>C rs2543968250
NM_015272.5(RPGRIP1L):c.3237A>C (p.Ser1079=) rs1965841741
NM_015272.5(RPGRIP1L):c.3246C>T (p.Asp1082=) rs1262452457
NM_015272.5(RPGRIP1L):c.3270T>C (p.Gly1090=) rs2543965735
NM_015272.5(RPGRIP1L):c.327A>G (p.Glu109=) rs2544707811
NM_015272.5(RPGRIP1L):c.3294+19A>G rs1389958986
NM_015272.5(RPGRIP1L):c.3294+8A>G
NM_015272.5(RPGRIP1L):c.3294+9C>T rs2543964212
NM_015272.5(RPGRIP1L):c.3295-16T>A rs1168448437
NM_015272.5(RPGRIP1L):c.3295-18_3295-17insC rs2543823000
NM_015272.5(RPGRIP1L):c.3295-4A>G rs1346150250
NM_015272.5(RPGRIP1L):c.3295-6A>G rs1365501401
NM_015272.5(RPGRIP1L):c.3295-6del rs2543822775
NM_015272.5(RPGRIP1L):c.3295-7dup rs2543822846
NM_015272.5(RPGRIP1L):c.3295-9T>C rs1406378943
NM_015272.5(RPGRIP1L):c.3295-9_3295-8insG rs1964789088
NM_015272.5(RPGRIP1L):c.330A>G (p.Glu110=) rs1970437460
NM_015272.5(RPGRIP1L):c.3312C>G (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3315G>A (p.Gly1105=) rs1033191511
NM_015272.5(RPGRIP1L):c.3321G>A (p.Gly1107=) rs2543822140
NM_015272.5(RPGRIP1L):c.3339A>C (p.Ser1113=) rs1286745099
NM_015272.5(RPGRIP1L):c.336T>A (p.Ile112=) rs2544707607
NM_015272.5(RPGRIP1L):c.336T>C (p.Ile112=) rs2544707607
NM_015272.5(RPGRIP1L):c.3390C>T (p.Ala1130=) rs749377120
NM_015272.5(RPGRIP1L):c.3393C>A (p.Ser1131=) rs2543820791
NM_015272.5(RPGRIP1L):c.3396A>G (p.Gln1132=) rs1964777549
NM_015272.5(RPGRIP1L):c.339G>A (p.Glu113=) rs1970436686
NM_015272.5(RPGRIP1L):c.3423C>T (p.His1141=) rs2543820325
NM_015272.5(RPGRIP1L):c.3426C>T (p.His1142=) rs1964775451
NM_015272.5(RPGRIP1L):c.3432+11G>T
NM_015272.5(RPGRIP1L):c.3432+13A>T rs2543819946
NM_015272.5(RPGRIP1L):c.3432+16T>C
NM_015272.5(RPGRIP1L):c.3432+20G>T rs932414258
NM_015272.5(RPGRIP1L):c.3433-13G>T rs1416757098
NM_015272.5(RPGRIP1L):c.3433-7T>C rs2543792033
NM_015272.5(RPGRIP1L):c.3435A>G (p.Pro1145=) rs2543791893
NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=) rs750930363
NM_015272.5(RPGRIP1L):c.3453T>C (p.Ile1151=) rs2543791532
NM_015272.5(RPGRIP1L):c.3459C>T (p.Ile1153=) rs1964562143
NM_015272.5(RPGRIP1L):c.3492C>T (p.Thr1164=) rs2150964666
NM_015272.5(RPGRIP1L):c.3514C>T (p.Leu1172=) rs2150964607
NM_015272.5(RPGRIP1L):c.3516G>C (p.Leu1172=) rs1388851938
NM_015272.5(RPGRIP1L):c.3528T>C (p.Cys1176=) rs1449202929
NM_015272.5(RPGRIP1L):c.3529C>A (p.Arg1177=) rs778533826
NM_015272.5(RPGRIP1L):c.3531A>T (p.Arg1177=) rs2150964540
NM_015272.5(RPGRIP1L):c.3552A>G (p.Glu1184=) rs2543789488
NM_015272.5(RPGRIP1L):c.3555G>A (p.Glu1185=) rs2150964438
NM_015272.5(RPGRIP1L):c.3564G>A (p.Val1188=)
NM_015272.5(RPGRIP1L):c.3573A>C (p.Pro1191=) rs2150964332
NM_015272.5(RPGRIP1L):c.3573A>G (p.Pro1191=)
NM_015272.5(RPGRIP1L):c.357T>G (p.Val119=) rs2544707166
NM_015272.5(RPGRIP1L):c.3591G>A (p.Gln1197=) rs1598241420
NM_015272.5(RPGRIP1L):c.3597C>T (p.Val1199=)
NM_015272.5(RPGRIP1L):c.3616+11T>C
NM_015272.5(RPGRIP1L):c.3616+12T>G rs1285079894
NM_015272.5(RPGRIP1L):c.3616+14A>G rs2543787983
NM_015272.5(RPGRIP1L):c.3616+18G>T rs1053189955
NM_015272.5(RPGRIP1L):c.3616+9G>C rs934455196
NM_015272.5(RPGRIP1L):c.3617-12C>A rs1567793737
NM_015272.5(RPGRIP1L):c.3617-20T>A
NM_015272.5(RPGRIP1L):c.3617-4A>G rs771975767
NM_015272.5(RPGRIP1L):c.3617-5T>C rs2543721447
NM_015272.5(RPGRIP1L):c.3617-6G>T rs377099270
NM_015272.5(RPGRIP1L):c.3617-7G>T rs1363436397
NM_015272.5(RPGRIP1L):c.3648A>G (p.Ala1216=) rs2150938382
NM_015272.5(RPGRIP1L):c.3651G>A (p.Lys1217=) rs2543721090
NM_015272.5(RPGRIP1L):c.3657C>T (p.Asp1219=) rs779403868
NM_015272.5(RPGRIP1L):c.3696T>C (p.Asn1232=) rs2150938143
NM_015272.5(RPGRIP1L):c.3699A>G (p.Arg1233=) rs760891642
NM_015272.5(RPGRIP1L):c.3701+13A>G rs2543720218
NM_015272.5(RPGRIP1L):c.3701+15T>C
NM_015272.5(RPGRIP1L):c.3701+16C>A rs2543720172
NM_015272.5(RPGRIP1L):c.3701+19A>G rs199926524
NM_015272.5(RPGRIP1L):c.3702-14C>G rs2543683028
NM_015272.5(RPGRIP1L):c.3702-19C>G
NM_015272.5(RPGRIP1L):c.3702-20T>G rs1300890769
NM_015272.5(RPGRIP1L):c.3702-4C>T rs2543682902
NM_015272.5(RPGRIP1L):c.3702-6T>C rs2543682932
NM_015272.5(RPGRIP1L):c.3702-9C>T rs767511260
NM_015272.5(RPGRIP1L):c.3708C>T (p.Arg1236=)
NM_015272.5(RPGRIP1L):c.3720C>T (p.Val1240=) rs2543682620
NM_015272.5(RPGRIP1L):c.3735G>A (p.Glu1245=) rs2543682503
NM_015272.5(RPGRIP1L):c.3748C>T (p.Leu1250=) rs779532350
NM_015272.5(RPGRIP1L):c.3750G>A (p.Leu1250=) rs768894462
NM_015272.5(RPGRIP1L):c.3753G>A (p.Glu1251=) rs2543682248
NM_015272.5(RPGRIP1L):c.3759G>A (p.Glu1253=) rs2543682203
NM_015272.5(RPGRIP1L):c.3771G>A (p.Val1257=) rs1963627514
NM_015272.5(RPGRIP1L):c.3780C>A (p.Val1260=) rs144924117
NM_015272.5(RPGRIP1L):c.3789C>T (p.Ala1263=) rs1963626162
NM_015272.5(RPGRIP1L):c.378T>C (p.Asn126=)
NM_015272.5(RPGRIP1L):c.3801G>A (p.Gln1267=) rs2543681615
NM_015272.5(RPGRIP1L):c.3813C>T (p.Asp1271=) rs2543681468
NM_015272.5(RPGRIP1L):c.3816C>T (p.Leu1272=) rs2543681449
NM_015272.5(RPGRIP1L):c.3831C>A (p.Ile1277=) rs760294595
NM_015272.5(RPGRIP1L):c.3835+12A>T rs2543681005
NM_015272.5(RPGRIP1L):c.3835+13G>A rs776026998
NM_015272.5(RPGRIP1L):c.3835+13G>C
NM_015272.5(RPGRIP1L):c.3835+14T>C rs1449022699
NM_015272.5(RPGRIP1L):c.3835+15G>A rs1210699492
NM_015272.5(RPGRIP1L):c.3835+18G>C
NM_015272.5(RPGRIP1L):c.3835+19C>T rs372264184
NM_015272.5(RPGRIP1L):c.3835+20_3835+34del rs2543680649
NM_015272.5(RPGRIP1L):c.3836-13C>G rs886038620
NM_015272.5(RPGRIP1L):c.3836-16G>A rs2543661379
NM_015272.5(RPGRIP1L):c.3836-18C>T rs1963411897
NM_015272.5(RPGRIP1L):c.3836-19C>G rs1276455735
NM_015272.5(RPGRIP1L):c.3836-19C>T rs1276455735
NM_015272.5(RPGRIP1L):c.3836-21_3836-20del rs2543661418
NM_015272.5(RPGRIP1L):c.3837T>G (p.Val1279=) rs2150909559
NM_015272.5(RPGRIP1L):c.3847C>A (p.Arg1283=) rs754697392
NM_015272.5(RPGRIP1L):c.384C>G (p.Thr128=) rs2151352728
NM_015272.5(RPGRIP1L):c.384C>T (p.Thr128=) rs2151352728
NM_015272.5(RPGRIP1L):c.3864T>C (p.Gly1288=) rs2150909430
NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=) rs915393428
NM_015272.5(RPGRIP1L):c.3912T>C (p.Ser1304=) rs2150909277
NM_015272.5(RPGRIP1L):c.397C>T (p.Leu133=) rs2151352510
NM_015272.5(RPGRIP1L):c.411A>G (p.Lys137=) rs2544706188
NM_015272.5(RPGRIP1L):c.423A>G (p.Gln141=) rs2544705955
NM_015272.5(RPGRIP1L):c.447A>C (p.Pro149=) rs2151351974
NM_015272.5(RPGRIP1L):c.447A>G (p.Pro149=) rs2151351974
NM_015272.5(RPGRIP1L):c.450C>T (p.Tyr150=) rs748120890
NM_015272.5(RPGRIP1L):c.459A>G (p.Val153=) rs2151351733
NM_015272.5(RPGRIP1L):c.474C>T (p.Asn158=) rs2544704911
NM_015272.5(RPGRIP1L):c.477T>C (p.Thr159=) rs1970425956
NM_015272.5(RPGRIP1L):c.480G>T (p.Gly160=) rs766853230
NM_015272.5(RPGRIP1L):c.483T>G (p.Arg161=) rs2151351392
NM_015272.5(RPGRIP1L):c.492A>G (p.Ala164=) rs1268100687
NM_015272.5(RPGRIP1L):c.504T>C (p.Ala168=) rs2151351081
NM_015272.5(RPGRIP1L):c.507T>C (p.Gly169=) rs2151350970
NM_015272.5(RPGRIP1L):c.516A>G (p.Glu172=) rs2151350826
NM_015272.5(RPGRIP1L):c.519C>T (p.Cys173=) rs2544703870
NM_015272.5(RPGRIP1L):c.51A>G (p.Thr17=) rs1172048315
NM_015272.5(RPGRIP1L):c.525G>A (p.Arg175=) rs2151350777
NM_015272.5(RPGRIP1L):c.529+14T>C rs2544703336
NM_015272.5(RPGRIP1L):c.529+16C>G rs765320880
NM_015272.5(RPGRIP1L):c.529+19T>G rs2544703181
NM_015272.5(RPGRIP1L):c.529+7C>G rs1970421028
NM_015272.5(RPGRIP1L):c.529+7C>T rs1970421028
NM_015272.5(RPGRIP1L):c.530-10T>C rs2544661025
NM_015272.5(RPGRIP1L):c.530-13A>G rs2544661094
NM_015272.5(RPGRIP1L):c.530-16A>G rs2544661134
NM_015272.5(RPGRIP1L):c.530-20T>C rs2151325896
NM_015272.5(RPGRIP1L):c.530-8G>C rs2544660973
NM_015272.5(RPGRIP1L):c.530-9T>C rs2544660997
NM_015272.5(RPGRIP1L):c.555A>G (p.Val185=) rs2544660336
NM_015272.5(RPGRIP1L):c.582A>T (p.Thr194=) rs924608253
NM_015272.5(RPGRIP1L):c.591C>A (p.Gly197=) rs764003624
NM_015272.5(RPGRIP1L):c.618A>G (p.Gly206=) rs1970130340
NM_015272.5(RPGRIP1L):c.632+16T>C rs749843530
NM_015272.5(RPGRIP1L):c.632+19G>A
NM_015272.5(RPGRIP1L):c.632+7G>A rs746526374
NM_015272.5(RPGRIP1L):c.632+9_632+21del rs2151325015
NM_015272.5(RPGRIP1L):c.633-14G>T rs2544641495
NM_015272.5(RPGRIP1L):c.633-15G>A rs907161693
NM_015272.5(RPGRIP1L):c.633-19C>T rs2151318621
NM_015272.5(RPGRIP1L):c.669G>A (p.Glu223=) rs2544640404
NM_015272.5(RPGRIP1L):c.66T>C (p.Phe22=) rs760486367
NM_015272.5(RPGRIP1L):c.678G>A (p.Glu226=) rs1970027900
NM_015272.5(RPGRIP1L):c.699A>G (p.Lys233=) rs2151318068
NM_015272.5(RPGRIP1L):c.6T>C (p.Ser2=) rs2151417590
NM_015272.5(RPGRIP1L):c.702T>A (p.Thr234=) rs2544639563
NM_015272.5(RPGRIP1L):c.705G>A (p.Gln235=) rs752815435
NM_015272.5(RPGRIP1L):c.714A>G (p.Arg238=) rs2151317940
NM_015272.5(RPGRIP1L):c.726A>G (p.Glu242=) rs2151317865
NM_015272.5(RPGRIP1L):c.735A>G (p.Leu245=) rs2151317799
NM_015272.5(RPGRIP1L):c.744T>G (p.Leu248=) rs2544638482
NM_015272.5(RPGRIP1L):c.776+17A>G rs1598401035
NM_015272.5(RPGRIP1L):c.776+8A>T rs1970016468
NM_015272.5(RPGRIP1L):c.777-17T>G rs776986581
NM_015272.5(RPGRIP1L):c.777-6C>G rs2544515556
NM_015272.5(RPGRIP1L):c.777-7T>C rs1969053313
NM_015272.5(RPGRIP1L):c.777-8C>T rs771509380
NM_015272.5(RPGRIP1L):c.777-9A>T rs1969053796
NM_015272.5(RPGRIP1L):c.780A>G (p.Ser260=) rs201761685
NM_015272.5(RPGRIP1L):c.787C>A (p.Arg263=) rs773626315
NM_015272.5(RPGRIP1L):c.78G>T (p.Gly26=) rs1276297529
NM_015272.5(RPGRIP1L):c.810G>A (p.Lys270=) rs2544514740
NM_015272.5(RPGRIP1L):c.813T>C (p.Leu271=) rs2151259061
NM_015272.5(RPGRIP1L):c.816T>C (p.His272=) rs768595986
NM_015272.5(RPGRIP1L):c.822G>A (p.Gln274=) rs2151258993
NM_015272.5(RPGRIP1L):c.85+12T>A rs978023884
NM_015272.5(RPGRIP1L):c.86-12_86-8del rs1970754727
NM_015272.5(RPGRIP1L):c.86-18A>G rs778924614
NM_015272.5(RPGRIP1L):c.86-7T>G rs2151379974
NM_015272.5(RPGRIP1L):c.864A>G (p.Lys288=) rs2151258723
NM_015272.5(RPGRIP1L):c.882+10T>C rs1598379616
NM_015272.5(RPGRIP1L):c.882+9A>G rs992121593
NM_015272.5(RPGRIP1L):c.883-14T>C rs2544492831
NM_015272.5(RPGRIP1L):c.883-15C>A rs2544492903
NM_015272.5(RPGRIP1L):c.883-15_883-14del rs779226661
NM_015272.5(RPGRIP1L):c.883-16T>C rs2544492937
NM_015272.5(RPGRIP1L):c.883-3del rs2544492580
NM_015272.5(RPGRIP1L):c.918G>A (p.Leu306=) rs1968869903
NM_015272.5(RPGRIP1L):c.930G>A (p.Gly310=) rs1968868729
NM_015272.5(RPGRIP1L):c.937T>C (p.Leu313=) rs2151245638
NM_015272.5(RPGRIP1L):c.957G>A (p.Glu319=) rs1968866974
NM_015272.5(RPGRIP1L):c.972C>T (p.Cys324=) rs1289804735
NM_015272.5(RPGRIP1L):c.975C>T (p.Cys325=) rs2544490504
NM_015272.5(RPGRIP1L):c.978T>C (p.Ser326=) rs2151245344
NM_015272.5(RPGRIP1L):c.991T>C (p.Leu331=) rs746770989
NM_015272.5(RPGRIP1L):c.999T>A (p.Ser333=) rs1022259426
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=) rs1022259426
NM_015272.5(RPGRIP1L):c.99A>G (p.Thr33=) rs768545485
NM_015681.6(B9D1):c.132+11C>T rs2152276135
NM_015681.6(B9D1):c.132+14T>C rs2508695949
NM_015681.6(B9D1):c.132+20C>T
NM_015681.6(B9D1):c.162A>C (p.Thr54=) rs2508667833
NM_015681.6(B9D1):c.165C>T (p.Ser55=) rs368753881
NM_015681.6(B9D1):c.204C>T (p.Phe68=) rs1006221533
NM_015681.6(B9D1):c.244+10dup rs1340872247
NM_015681.6(B9D1):c.244+17C>T rs773499038
NM_015681.6(B9D1):c.245-12del rs2508554594
NM_015681.6(B9D1):c.245-9C>T rs775514861
NM_015681.6(B9D1):c.261C>G (p.Leu87=) rs1287922833
NM_015681.6(B9D1):c.261C>T (p.Leu87=) rs1287922833
NM_015681.6(B9D1):c.279T>C (p.Asp93=)
NM_015681.6(B9D1):c.285C>T (p.Phe95=) rs373478202
NM_015681.6(B9D1):c.303A>T (p.Arg101=) rs1555607998
NM_015681.6(B9D1):c.30A>C (p.Leu10=) rs781395275
NM_015681.6(B9D1):c.30A>G (p.Leu10=) rs781395275
NM_015681.6(B9D1):c.312G>A (p.Gly104=) rs2152261896
NM_015681.6(B9D1):c.318G>A (p.Val106=)
NM_015681.6(B9D1):c.341+19C>T rs2508550844
NM_015681.6(B9D1):c.342-9T>C rs1908965884
NM_015681.6(B9D1):c.404+10G>A rs1365656118
NM_015681.6(B9D1):c.405-13_405-11del rs748543760
NM_015681.6(B9D1):c.405-9T>C rs2508493015
NM_015681.6(B9D1):c.426C>T (p.Pro142=) rs775970042
NM_015681.6(B9D1):c.438C>T (p.Asp146=)
NM_015681.6(B9D1):c.453T>C (p.Ala151=)
NM_015681.6(B9D1):c.465C>A (p.Gly155=) rs748971385
NM_015681.6(B9D1):c.472+13C>G rs2152253339
NM_015681.6(B9D1):c.472+15C>G rs753208628
NM_015681.6(B9D1):c.472+16C>T rs375227607
NM_015681.6(B9D1):c.473-12T>C rs1330715883
NM_015681.6(B9D1):c.473-13del rs1908238944
NM_015681.6(B9D1):c.473-15C>G rs780551918
NM_015681.6(B9D1):c.473-15C>T
NM_015681.6(B9D1):c.510C>G (p.Leu170=) rs1436466258
NM_015681.6(B9D1):c.510C>T (p.Leu170=) rs1436466258
NM_015681.6(B9D1):c.579G>C (p.Val193=) rs2508480811
NM_015681.6(B9D1):c.63+11G>A rs2152278747
NM_015681.6(B9D1):c.63+17C>T
NM_015681.6(B9D1):c.63+20_63+43del rs2152278609
NM_015681.6(B9D1):c.64-12_64-11del rs777649935
NM_015681.6(B9D1):c.64-15_64-12del rs1249811687
NM_015681.6(B9D1):c.64-19_64-18del rs2152276295
NM_015681.6(B9D1):c.64-5T>C rs1910896502
NM_015681.6(B9D1):c.64-6T>C rs1324372277
NM_015681.6(B9D1):c.84C>A (p.Leu28=)
NM_015681.6(B9D1):c.96C>T (p.Tyr32=) rs2152276201
NM_015681.6(B9D1):c.9C>G (p.Thr3=) rs749611797
NM_017777.4(MKS1):c.1012T>C (p.Leu338=) rs1968819648
NM_017777.4(MKS1):c.1024+16A>T rs771845897
NM_017777.4(MKS1):c.1024+8A>G rs2509425794
NM_017777.4(MKS1):c.1025-13C>A
NM_017777.4(MKS1):c.1025-18T>C rs2509417059
NM_017777.4(MKS1):c.1025-20A>G rs2509417089
NM_017777.4(MKS1):c.1026C>T (p.His342=) rs2509416914
NM_017777.4(MKS1):c.1050G>A (p.Gln350=) rs2509416642
NM_017777.4(MKS1):c.1062A>G (p.Val354=) rs2143757521
NM_017777.4(MKS1):c.1065A>G (p.Thr355=) rs2143757456
NM_017777.4(MKS1):c.1071C>T (p.Thr357=) rs939716801
NM_017777.4(MKS1):c.1092A>C (p.Ala364=) rs1379453194
NM_017777.4(MKS1):c.1095+10A>G rs1968669569
NM_017777.4(MKS1):c.1095+14G>A rs2143756719
NM_017777.4(MKS1):c.1095+14G>T rs2143756719
NM_017777.4(MKS1):c.1096-10C>A rs766137727
NM_017777.4(MKS1):c.1096-10C>G rs766137727
NM_017777.4(MKS1):c.1096-11C>T
NM_017777.4(MKS1):c.1096-19A>C rs372886368
NM_017777.4(MKS1):c.1096-20T>A rs2509413910
NM_017777.4(MKS1):c.1096-20del rs2509413918
NM_017777.4(MKS1):c.1096-4A>G rs1320626045
NM_017777.4(MKS1):c.1096-7T>C rs2143753917
NM_017777.4(MKS1):c.1096-9T>C rs2143753947
NM_017777.4(MKS1):c.1098C>T (p.Asp366=) rs1374437999
NM_017777.4(MKS1):c.1113C>T (p.Phe371=) rs950609840
NM_017777.4(MKS1):c.1116C>T (p.Ser372=) rs2509413527
NM_017777.4(MKS1):c.1122A>G (p.Pro374=) rs2509413473
NM_017777.4(MKS1):c.1128G>T (p.Thr376=) rs369141016
NM_017777.4(MKS1):c.1137C>T (p.Ala379=) rs746657618
NM_017777.4(MKS1):c.1140C>T (p.Phe380=) rs2509413254
NM_017777.4(MKS1):c.1149T>C (p.His383=) rs2509413155
NM_017777.4(MKS1):c.1155T>C (p.Asp385=)
NM_017777.4(MKS1):c.1158A>G (p.Glu386=) rs797045705
NM_017777.4(MKS1):c.1165+18T>A rs2509412945
NM_017777.4(MKS1):c.1165+7del rs2509413020
NM_017777.4(MKS1):c.1165+9C>T rs2509412985
NM_017777.4(MKS1):c.1166-16C>G rs2509412387
NM_017777.4(MKS1):c.1166-20G>A rs1033351230
NM_017777.4(MKS1):c.1166-5C>T rs2509412289
NM_017777.4(MKS1):c.1167T>C (p.Asp389=) rs2509412230
NM_017777.4(MKS1):c.1176G>C (p.Pro392=) rs775169308
NM_017777.4(MKS1):c.1176G>T (p.Pro392=) rs775169308
NM_017777.4(MKS1):c.1185T>C (p.Pro395=) rs2509412043
NM_017777.4(MKS1):c.1191C>G (p.Leu397=) rs2509411967
NM_017777.4(MKS1):c.1203C>A (p.Val401=) rs1567796495
NM_017777.4(MKS1):c.1206C>T (p.Leu402=) rs202040080
NM_017777.4(MKS1):c.1210C>T (p.Leu404=) rs1968626501
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn) rs372554696
NM_017777.4(MKS1):c.1224G>A (p.Gln408=) rs1216137211
NM_017777.4(MKS1):c.1245T>C (p.Tyr415=) rs1968622013
NM_017777.4(MKS1):c.1254G>A (p.Val418=) rs2143750611
NM_017777.4(MKS1):c.1273+10C>T rs1179289461
NM_017777.4(MKS1):c.1273+13C>A rs2509411081
NM_017777.4(MKS1):c.1273+17G>A rs2509411062
NM_017777.4(MKS1):c.1273+17del rs2143750048
NM_017777.4(MKS1):c.1273+18C>A rs1968616974
NM_017777.4(MKS1):c.1273+7G>T rs569463908
NM_017777.4(MKS1):c.1274-10C>G rs751088795
NM_017777.4(MKS1):c.1274-13T>A rs2509408105
NM_017777.4(MKS1):c.1274-14C>T rs2509408115
NM_017777.4(MKS1):c.1274-16C>T rs754486075
NM_017777.4(MKS1):c.1274-18T>C rs780760589
NM_017777.4(MKS1):c.1274-4G>T rs377033778
NM_017777.4(MKS1):c.1274-7T>C rs2509408055
NM_017777.4(MKS1):c.1274-9dup rs1418212004
NM_017777.4(MKS1):c.1281C>T (p.His427=) rs2143744776
NM_017777.4(MKS1):c.1284C>G (p.Thr428=) rs761247194
NM_017777.4(MKS1):c.1299G>T (p.Thr433=) rs749503564
NM_017777.4(MKS1):c.1323G>A (p.Thr441=) rs781038098
NM_017777.4(MKS1):c.1323G>C (p.Thr441=) rs781038098
NM_017777.4(MKS1):c.1341G>A (p.Arg447=) rs1294257326
NM_017777.4(MKS1):c.1353C>A (p.Gly451=) rs764549118
NM_017777.4(MKS1):c.1353C>G (p.Gly451=) rs764549118
NM_017777.4(MKS1):c.135C>G (p.Ala45=) rs766174298
NM_017777.4(MKS1):c.135C>T (p.Ala45=) rs766174298
NM_017777.4(MKS1):c.1389G>T (p.Arg463=) rs773269657
NM_017777.4(MKS1):c.1407+19G>A rs747931678
NM_017777.4(MKS1):c.1407+20T>C
NM_017777.4(MKS1):c.1407+9T>A rs2143742823
NM_017777.4(MKS1):c.1408-13T>C rs2143738734
NM_017777.4(MKS1):c.1408-18C>A rs2143738791
NM_017777.4(MKS1):c.1408-20G>C rs1167242242
NM_017777.4(MKS1):c.1408-21T>G rs1567794650
NM_017777.4(MKS1):c.1408-23G>A rs766480492
NM_017777.4(MKS1):c.1408-28C>T
NM_017777.4(MKS1):c.1408-29C>T rs2143738957
NM_017777.4(MKS1):c.1408-35C>A
NM_017777.4(MKS1):c.1408-35C>T rs2143738994
NM_017777.4(MKS1):c.1408-9A>G rs2509404340
NM_017777.4(MKS1):c.1410G>A (p.Gly470=) rs2143738492
NM_017777.4(MKS1):c.1413A>G (p.Glu471=) rs1597975817
NM_017777.4(MKS1):c.1416C>G (p.Arg472=) rs1421301211
NM_017777.4(MKS1):c.141C>A (p.Leu47=) rs1598006779
NM_017777.4(MKS1):c.141C>G (p.Leu47=)
NM_017777.4(MKS1):c.141C>T (p.Leu47=) rs1598006779
NM_017777.4(MKS1):c.1422C>T (p.Ser474=) rs1597975737
NM_017777.4(MKS1):c.1425C>A (p.Arg475=) rs2143738206
NM_017777.4(MKS1):c.1434C>T (p.Leu478=) rs1463944569
NM_017777.4(MKS1):c.1446C>T (p.Thr482=) rs2143737944
NM_017777.4(MKS1):c.1449A>G (p.Thr483=) rs2143737889
NM_017777.4(MKS1):c.144G>C (p.Gly48=) rs2143838897
NM_017777.4(MKS1):c.1458C>T (p.Val486=) rs780576848
NM_017777.4(MKS1):c.1470G>A (p.Leu490=) rs1968517645
NM_017777.4(MKS1):c.1476T>C (p.Cys492=) rs137853105
NM_017777.4(MKS1):c.147G>A (p.Lys49=) rs2143838854
NM_017777.4(MKS1):c.1490+15C>A rs760595212
NM_017777.4(MKS1):c.1490+17T>A rs2509403430
NM_017777.4(MKS1):c.1490+20G>A
NM_017777.4(MKS1):c.1490+8A>G
NM_017777.4(MKS1):c.1490+8A>T rs2509403501
NM_017777.4(MKS1):c.1490+9C>T rs1555596804
NM_017777.4(MKS1):c.1491-13G>A rs2143736475
NM_017777.4(MKS1):c.1491-15C>G rs1156371721
NM_017777.4(MKS1):c.1491-17G>T rs2509403040
NM_017777.4(MKS1):c.1491-4G>A rs1555596758
NM_017777.4(MKS1):c.1491-4G>T rs1555596758
NM_017777.4(MKS1):c.1491-6C>G
NM_017777.4(MKS1):c.1491-7C>T rs2509402973
NM_017777.4(MKS1):c.1491-8C>A rs2509402984
NM_017777.4(MKS1):c.1497C>T (p.Phe499=) rs2509402890
NM_017777.4(MKS1):c.1515T>A (p.Leu505=) rs2509402761
NM_017777.4(MKS1):c.1528C>A (p.Arg510=) rs757310695
NM_017777.4(MKS1):c.1530G>A (p.Arg510=) rs2509402659
NM_017777.4(MKS1):c.1557C>T (p.Phe519=) rs1433060710
NM_017777.4(MKS1):c.1560C>T (p.Ser520=) rs2143735433
NM_017777.4(MKS1):c.1575T>A (p.Ile525=) rs1488998075
NM_017777.4(MKS1):c.1578C>T (p.His526=) rs1968501110
NM_017777.4(MKS1):c.1588+12C>G rs762501967
NM_017777.4(MKS1):c.1588+12C>T
NM_017777.4(MKS1):c.1588+16C>A rs769492248
NM_017777.4(MKS1):c.1588+16C>G rs769492248
NM_017777.4(MKS1):c.1588+16C>T
NM_017777.4(MKS1):c.1588+18G>C
NM_017777.4(MKS1):c.1588+20T>C rs2143734918
NM_017777.4(MKS1):c.1588+7C>A rs2143735157
NM_017777.4(MKS1):c.1588+7C>T rs2143735157
NM_017777.4(MKS1):c.1589-10T>A rs2143734265
NM_017777.4(MKS1):c.1589-11T>C rs777988877
NM_017777.4(MKS1):c.1589-15C>G rs2509401712
NM_017777.4(MKS1):c.1589-19A>T rs757672989
NM_017777.4(MKS1):c.1590G>A (p.Glu530=) rs767250536
NM_017777.4(MKS1):c.1593C>T (p.Ala531=)
NM_017777.4(MKS1):c.159C>T (p.Asp53=) rs907068935
NM_017777.4(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.4(MKS1):c.1605C>T (p.Ala535=) rs35493987
NM_017777.4(MKS1):c.1608G>A (p.Arg536=) rs2143733718
NM_017777.4(MKS1):c.165C>A (p.Ala55=) rs375999060
NM_017777.4(MKS1):c.1671G>A (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.1671G>T (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.1677C>T (p.Ser559=) rs921675582
NM_017777.4(MKS1):c.177T>G (p.Pro59=) rs2143838526
NM_017777.4(MKS1):c.190+11C>G rs529293609
NM_017777.4(MKS1):c.190+20T>C rs767872524
NM_017777.4(MKS1):c.190+8dup rs766767996
NM_017777.4(MKS1):c.191-10G>T rs756533204
NM_017777.4(MKS1):c.191-17C>T rs2509457865
NM_017777.4(MKS1):c.191-9T>C rs2143823943
NM_017777.4(MKS1):c.201C>G (p.Arg67=) rs2143823724
NM_017777.4(MKS1):c.204A>G (p.Pro68=) rs557752726
NM_017777.4(MKS1):c.207G>A (p.Glu69=) rs1969242335
NM_017777.4(MKS1):c.213C>T (p.Asp71=) rs142813109
NM_017777.4(MKS1):c.219G>A (p.Glu73=) rs2509457636
NM_017777.4(MKS1):c.222G>A (p.Glu74=) rs2509457630
NM_017777.4(MKS1):c.225G>A (p.Glu75=) rs775351056
NM_017777.4(MKS1):c.237G>A (p.Gly79=) rs2143823165
NM_017777.4(MKS1):c.252C>T (p.Leu84=) rs969699321
NM_017777.4(MKS1):c.261+10T>C rs781466261
NM_017777.4(MKS1):c.261+10T>G rs781466261
NM_017777.4(MKS1):c.261+16_261+17del rs2509457268
NM_017777.4(MKS1):c.262-10G>A rs772852025
NM_017777.4(MKS1):c.262-10G>C rs772852025
NM_017777.4(MKS1):c.262-12T>C rs1969204882
NM_017777.4(MKS1):c.262-19T>C rs2509455437
NM_017777.4(MKS1):c.262-7_262-6del rs2143820463
NM_017777.4(MKS1):c.276G>A (p.Leu92=) rs747325433
NM_017777.4(MKS1):c.282A>G (p.Gln94=) rs772742739
NM_017777.4(MKS1):c.285T>C (p.Asn95=) rs2509455188
NM_017777.4(MKS1):c.291A>G (p.Thr97=) rs1597999676
NM_017777.4(MKS1):c.30C>G (p.Thr10=) rs576239597
NM_017777.4(MKS1):c.318G>A (p.Gln106=) rs2509455009
NM_017777.4(MKS1):c.324T>C (p.Arg108=) rs1007384458
NM_017777.4(MKS1):c.351G>C (p.Ser117=) rs370781583
NM_017777.4(MKS1):c.354T>G (p.Gly118=) rs1969193189
NM_017777.4(MKS1):c.369A>G (p.Arg123=) rs997559994
NM_017777.4(MKS1):c.381C>G (p.Thr127=) rs761521921
NM_017777.4(MKS1):c.390C>T (p.Asp130=) rs2143819075
NM_017777.4(MKS1):c.39A>G (p.Ala13=) rs2509469469
NM_017777.4(MKS1):c.405C>A (p.Thr135=) rs2509454323
NM_017777.4(MKS1):c.417+13C>T rs2509454149
NM_017777.4(MKS1):c.417+15A>G rs2509454138
NM_017777.4(MKS1):c.418-18G>C
NM_017777.4(MKS1):c.418-4C>G rs2143809915
NM_017777.4(MKS1):c.427A>C (p.Arg143=) rs185130897
NM_017777.4(MKS1):c.453G>A (p.Val151=) rs2509448511
NM_017777.4(MKS1):c.468C>G (p.Val156=) rs199684837
NM_017777.4(MKS1):c.483T>C (p.Asn161=) rs1472188901
NM_017777.4(MKS1):c.492T>A (p.Arg164=) rs2143808753
NM_017777.4(MKS1):c.498G>A (p.Arg166=) rs778956664
NM_017777.4(MKS1):c.513G>C (p.Gly171=) rs2143808375
NM_017777.4(MKS1):c.515+13A>T rs1170743615
NM_017777.4(MKS1):c.515+15G>T rs1422925003
NM_017777.4(MKS1):c.515+9G>C rs752279060
NM_017777.4(MKS1):c.515+9G>T rs752279060
NM_017777.4(MKS1):c.516-5C>A rs1223795320
NM_017777.4(MKS1):c.516-5C>T rs1223795320
NM_017777.4(MKS1):c.516-9G>A rs1969068781
NM_017777.4(MKS1):c.519G>A (p.Glu173=) rs901476301
NM_017777.4(MKS1):c.51C>T (p.Ser17=) rs1348163172
NM_017777.4(MKS1):c.522C>A (p.Gly174=) rs780657802
NM_017777.4(MKS1):c.528C>T (p.Ile176=) rs2143805374
NM_017777.4(MKS1):c.52C>A (p.Arg18=) rs557896607
NM_017777.4(MKS1):c.546C>T (p.Val182=) rs1969065058
NM_017777.4(MKS1):c.555G>A (p.Glu185=) rs2143804915
NM_017777.4(MKS1):c.564A>G (p.Glu188=) rs2143804818
NM_017777.4(MKS1):c.573C>G (p.Val191=) rs1247479841
NM_017777.4(MKS1):c.582C>T (p.Asn194=) rs940590057
NM_017777.4(MKS1):c.600T>G (p.Pro200=) rs1969060072
NM_017777.4(MKS1):c.60C>A (p.Pro20=) rs1451699674
NM_017777.4(MKS1):c.618C>A (p.Ile206=) rs772982926
NM_017777.4(MKS1):c.624A>G (p.Ala208=) rs2509444938
NM_017777.4(MKS1):c.639T>C (p.Tyr213=) rs746647549
NM_017777.4(MKS1):c.644+15T>A rs2143803705
NM_017777.4(MKS1):c.644+18C>T rs2509444654
NM_017777.4(MKS1):c.645-12_645-10del rs2143800934
NM_017777.4(MKS1):c.645-7T>C rs2509442820
NM_017777.4(MKS1):c.663T>C (p.Tyr221=) rs1597993685
NM_017777.4(MKS1):c.693T>C (p.Asp231=) rs777474025
NM_017777.4(MKS1):c.69C>T (p.Asn23=) rs2509469206
NM_017777.4(MKS1):c.705G>T (p.Val235=) rs2509442131
NM_017777.4(MKS1):c.726C>T (p.Phe242=) rs1293228274
NM_017777.4(MKS1):c.729G>C (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.729G>T (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.741A>C (p.Gly247=) rs2509441815
NM_017777.4(MKS1):c.744C>T (p.Pro248=) rs2509441767
NM_017777.4(MKS1):c.749+14G>T rs2509441693
NM_017777.4(MKS1):c.749+18G>C rs2509441657
NM_017777.4(MKS1):c.749+20G>T rs200495952
NM_017777.4(MKS1):c.749+9A>C rs2143799781
NM_017777.4(MKS1):c.750-14T>C rs2509439207
NM_017777.4(MKS1):c.750-15G>C rs2509439216
NM_017777.4(MKS1):c.750-20C>G
NM_017777.4(MKS1):c.750-7C>T rs2143795530
NM_017777.4(MKS1):c.750-8C>A rs1323177668
NM_017777.4(MKS1):c.750-9A>C rs2143795587
NM_017777.4(MKS1):c.756G>A (p.Glu252=) rs2509439089
NM_017777.4(MKS1):c.768G>A (p.Glu256=)
NM_017777.4(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.4(MKS1):c.789T>C (p.Tyr263=) rs1968972848
NM_017777.4(MKS1):c.792G>T (p.Thr264=) rs1272905094
NM_017777.4(MKS1):c.798C>T (p.Asp266=) rs1968971741
NM_017777.4(MKS1):c.80+10C>T rs1376581454
NM_017777.4(MKS1):c.80+11C>G rs1197917780
NM_017777.4(MKS1):c.80+11del rs2509469032
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_017777.4(MKS1):c.80+15C>G
NM_017777.4(MKS1):c.80+16C>T rs2509468962
NM_017777.4(MKS1):c.80+17A>G rs2509468958
NM_017777.4(MKS1):c.80+7G>T rs2143842574
NM_017777.4(MKS1):c.80+9A>G
NM_017777.4(MKS1):c.804T>C (p.Val268=) rs764069453
NM_017777.4(MKS1):c.807C>G (p.Ser269=)
NM_017777.4(MKS1):c.81-11T>C rs764407218
NM_017777.4(MKS1):c.81-14G>A rs754247081
NM_017777.4(MKS1):c.81-14del rs2509466388
NM_017777.4(MKS1):c.81-5G>T rs1969411105
NM_017777.4(MKS1):c.81-9T>C rs2509466360
NM_017777.4(MKS1):c.831G>A (p.Glu277=) rs2143793926
NM_017777.4(MKS1):c.840A>G (p.Glu280=) rs1406421081
NM_017777.4(MKS1):c.843G>T (p.Arg281=) rs1968965281
NM_017777.4(MKS1):c.84C>T (p.Val28=) rs2509466306
NM_017777.4(MKS1):c.858+17T>G rs1968961125
NM_017777.4(MKS1):c.858+7G>C rs918270665
NM_017777.4(MKS1):c.858+7G>T rs918270665
NM_017777.4(MKS1):c.858+9A>T rs3826300
NM_017777.4(MKS1):c.859-19GTTTG[3] rs765611381
NM_017777.4(MKS1):c.859-5C>T rs2509435164
NM_017777.4(MKS1):c.870G>T (p.Arg290=) rs769489826
NM_017777.4(MKS1):c.882T>C (p.Tyr294=) rs2509434913
NM_017777.4(MKS1):c.900C>T (p.Gly300=) rs2509434746
NM_017777.4(MKS1):c.909T>C (p.Phe303=) rs764581050
NM_017777.4(MKS1):c.915+14C>T
NM_017777.4(MKS1):c.915+20G>A rs1597989972
NM_017777.4(MKS1):c.915+8G>T rs2509434604
NM_017777.4(MKS1):c.916-11C>T
NM_017777.4(MKS1):c.916-16C>T rs1329129248
NM_017777.4(MKS1):c.916-20C>T rs1968844248
NM_017777.4(MKS1):c.916-6C>T rs765028851
NM_017777.4(MKS1):c.916-7A>C rs2143778235
NM_017777.4(MKS1):c.918T>A (p.Thr306=) rs373269341
NM_017777.4(MKS1):c.918T>G (p.Thr306=) rs373269341
NM_017777.4(MKS1):c.921C>G (p.Val307=) rs2509428700
NM_017777.4(MKS1):c.948T>C (p.Asn316=) rs1345550727
NM_017777.4(MKS1):c.958+14T>C rs1968838330
NM_017777.4(MKS1):c.958+18A>G rs1968838107
NM_017777.4(MKS1):c.958+7G>T rs1185269829
NM_017777.4(MKS1):c.958+8T>A rs2509428158
NM_017777.4(MKS1):c.959-10TC[2] rs2509426478
NM_017777.4(MKS1):c.959-16del rs750835583
NM_017777.4(MKS1):c.959-20C>T rs2509426600
NM_017777.4(MKS1):c.959-7C>G rs773337994
NM_017777.4(MKS1):c.959-7C>T rs773337994
NM_017777.4(MKS1):c.959-8T>C rs763444295
NM_017777.4(MKS1):c.959-9C>A rs538316917
NM_017777.4(MKS1):c.981T>C (p.Tyr327=) rs2509426252
NM_024809.5(TCTN2):c.1033+13T>A rs368148687
NM_024809.5(TCTN2):c.1033+18G>C rs2541780223
NM_024809.5(TCTN2):c.1034-12T>C rs2541783860
NM_024809.5(TCTN2):c.1053G>T (p.Val351=)
NM_024809.5(TCTN2):c.1083A>G (p.Lys361=) rs2541784045
NM_024809.5(TCTN2):c.1099+15_1099+16del
NM_024809.5(TCTN2):c.1099+19T>A rs7137946
NM_024809.5(TCTN2):c.1099+8del rs2541784108
NM_024809.5(TCTN2):c.1107T>G (p.Pro369=)
NM_024809.5(TCTN2):c.114C>T (p.Gly38=)
NM_024809.5(TCTN2):c.1179C>A (p.Thr393=) rs763886472
NM_024809.5(TCTN2):c.117T>C (p.Pro39=)
NM_024809.5(TCTN2):c.1209G>A (p.Arg403=) rs1253184492
NM_024809.5(TCTN2):c.1234+7_1234+8del rs2541788464
NM_024809.5(TCTN2):c.1235-5T>C rs2541789190
NM_024809.5(TCTN2):c.1248G>A (p.Gln416=) rs766355400
NM_024809.5(TCTN2):c.1293A>G (p.Glu431=) rs1956094286
NM_024809.5(TCTN2):c.1312+14_1312+15del rs1566257629
NM_024809.5(TCTN2):c.1312+8G>A
NM_024809.5(TCTN2):c.1313-14T>C rs1273669225
NM_024809.5(TCTN2):c.1313-15G>A
NM_024809.5(TCTN2):c.138C>T (p.Val46=)
NM_024809.5(TCTN2):c.1393+16C>G
NM_024809.5(TCTN2):c.1393+17A>G
NM_024809.5(TCTN2):c.1393+8G>A rs1260036732
NM_024809.5(TCTN2):c.1394-14T>G
NM_024809.5(TCTN2):c.1416A>T (p.Ser472=)
NM_024809.5(TCTN2):c.147C>T (p.Thr49=) rs781321058
NM_024809.5(TCTN2):c.1503C>T (p.Leu501=)
NM_024809.5(TCTN2):c.1505+13T>C rs2135849825
NM_024809.5(TCTN2):c.1505+15G>A rs1479700077
NM_024809.5(TCTN2):c.1505+20AT[2]
NM_024809.5(TCTN2):c.1506-20A>C rs1011092991
NM_024809.5(TCTN2):c.1506-4G>T
NM_024809.5(TCTN2):c.1545G>A (p.Ala515=) rs1956150037
NM_024809.5(TCTN2):c.1551C>T (p.His517=) rs771100210
NM_024809.5(TCTN2):c.1569C>T (p.Asn523=) rs2135852947
NM_024809.5(TCTN2):c.1578C>T (p.Tyr526=)
NM_024809.5(TCTN2):c.1602C>G (p.Leu534=) rs752527801
NM_024809.5(TCTN2):c.1612+12C>A rs117614122
NM_024809.5(TCTN2):c.1612+15G>C rs2541798548
NM_024809.5(TCTN2):c.1612+9A>C rs781064666
NM_024809.5(TCTN2):c.1626T>C (p.Pro542=)
NM_024809.5(TCTN2):c.1645C>T (p.Leu549=) rs1956207845
NM_024809.5(TCTN2):c.1671C>T (p.Cys557=) rs2541806713
NM_024809.5(TCTN2):c.1692G>A (p.Leu564=) rs751298784
NM_024809.5(TCTN2):c.1722C>T (p.Gly574=) rs557018110
NM_024809.5(TCTN2):c.1725G>C (p.Ala575=) rs145483549
NM_024809.5(TCTN2):c.1770-18G>A rs377652913
NM_024809.5(TCTN2):c.1797G>A (p.Gln599=) rs2541810546
NM_024809.5(TCTN2):c.1809C>T (p.Thr603=) rs1445811116
NM_024809.5(TCTN2):c.1815G>A (p.Glu605=) rs1242797681
NM_024809.5(TCTN2):c.1851C>T (p.Val617=) rs1956235464
NM_024809.5(TCTN2):c.1881C>G (p.Pro627=) rs139902134
NM_024809.5(TCTN2):c.1881C>T (p.Pro627=) rs139902134
NM_024809.5(TCTN2):c.1884C>T (p.His628=)
NM_024809.5(TCTN2):c.1887C>G (p.Pro629=) rs1276465193
NM_024809.5(TCTN2):c.1896-11A>C rs2135862710
NM_024809.5(TCTN2):c.1896-18C>A rs2541811206
NM_024809.5(TCTN2):c.1896-19C>T
NM_024809.5(TCTN2):c.1896-7T>C
NM_024809.5(TCTN2):c.18G>A (p.Pro6=) rs1247539128
NM_024809.5(TCTN2):c.190+12C>A
NM_024809.5(TCTN2):c.191-10_191-8del rs1955759155
NM_024809.5(TCTN2):c.191-12T>G rs2541747642
NM_024809.5(TCTN2):c.191-19G>T rs910463610
NM_024809.5(TCTN2):c.191-20T>C rs2135814239
NM_024809.5(TCTN2):c.1959A>G (p.Leu653=) rs768004541
NM_024809.5(TCTN2):c.1985-6T>C
NM_024809.5(TCTN2):c.1985-7T>G
NM_024809.5(TCTN2):c.1985-7_1985-6insA
NM_024809.5(TCTN2):c.2029T>C (p.Leu677=) rs1271806468
NM_024809.5(TCTN2):c.2085C>G (p.Ala695=) rs950593517
NM_024809.5(TCTN2):c.210G>A (p.Thr70=) rs1196817536
NM_024809.5(TCTN2):c.234G>A (p.Thr78=) rs1955760505
NM_024809.5(TCTN2):c.258C>A (p.Ile86=) rs756139236
NM_024809.5(TCTN2):c.258C>T (p.Ile86=)
NM_024809.5(TCTN2):c.267+13G>A rs1159630747
NM_024809.5(TCTN2):c.267+17A>T rs1593828714
NM_024809.5(TCTN2):c.267+20_267+21delinsAC rs2541747978
NM_024809.5(TCTN2):c.267+21_267+23del rs768504261
NM_024809.5(TCTN2):c.267+8C>T
NM_024809.5(TCTN2):c.268-15A>G rs2135816252
NM_024809.5(TCTN2):c.268-15A>T rs2135816252
NM_024809.5(TCTN2):c.268-8C>T
NM_024809.5(TCTN2):c.27T>A (p.Leu9=) rs942739172
NM_024809.5(TCTN2):c.282G>A (p.Val94=)
NM_024809.5(TCTN2):c.282G>C (p.Val94=) rs146257198
NM_024809.5(TCTN2):c.357C>T (p.Ile119=) rs1335976509
NM_024809.5(TCTN2):c.445C>T (p.Leu149=)
NM_024809.5(TCTN2):c.463+12C>T
NM_024809.5(TCTN2):c.463+17_463+20del rs2541751683
NM_024809.5(TCTN2):c.464-13G>A rs2541760261
NM_024809.5(TCTN2):c.528A>T (p.Thr176=) rs1273355808
NM_024809.5(TCTN2):c.543T>C (p.Asp181=) rs2541760602
NM_024809.5(TCTN2):c.564+11del rs767884874
NM_024809.5(TCTN2):c.564+13G>A rs1449646805
NM_024809.5(TCTN2):c.565-6T>C
NM_024809.5(TCTN2):c.585A>G (p.Thr195=) rs2135834132
NM_024809.5(TCTN2):c.615C>A (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.660T>C (p.Ser220=) rs2135834313
NM_024809.5(TCTN2):c.672G>A (p.Thr224=) rs766226019
NM_024809.5(TCTN2):c.684C>T (p.Val228=) rs1955976356
NM_024809.5(TCTN2):c.6C>A (p.Gly2=) rs1383365858
NM_024809.5(TCTN2):c.756T>C (p.His252=) rs1593847530
NM_024809.5(TCTN2):c.764+13_764+14delinsTT rs2135834618
NM_024809.5(TCTN2):c.764+18C>T rs758293291
NM_024809.5(TCTN2):c.764+19G>T rs371865300
NM_024809.5(TCTN2):c.764+20C>T rs1418351084
NM_024809.5(TCTN2):c.764+9C>G rs1955979503
NM_024809.5(TCTN2):c.765-20C>G rs751731961
NM_024809.5(TCTN2):c.765-9G>A rs2541775448
NM_024809.5(TCTN2):c.771C>A (p.Pro257=) rs2135836168
NM_024809.5(TCTN2):c.795A>G (p.Val265=) rs2541775574
NM_024809.5(TCTN2):c.82+17A>C rs2135813322
NM_024809.5(TCTN2):c.83-12C>T rs2135813538
NM_024809.5(TCTN2):c.852C>T (p.Pro284=) rs2135836333
NM_024809.5(TCTN2):c.861T>C (p.Thr287=) rs2135836356
NM_024809.5(TCTN2):c.891+12A>G rs1056089161
NM_024809.5(TCTN2):c.891+15A>G
NM_024809.5(TCTN2):c.891+18A>G rs2541775921
NM_024809.5(TCTN2):c.891+7_891+8inv
NM_024809.5(TCTN2):c.892-18T>C rs1319716996
NM_024809.5(TCTN2):c.892-19C>G rs1287928389
NM_024809.5(TCTN2):c.892-7C>T rs2135839788
NM_024809.5(TCTN2):c.993T>C (p.Asp331=) rs2135840040
NM_030578.4(B9D2):c.186C>T (p.Asp62=) rs1469483071
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_030578.4(B9D2):c.387T>C (p.Gly129=)
NM_030578.4(B9D2):c.90G>A (p.Gly30=)
NM_153704.6(TMEM67):c.1026T>C (p.Asn342=) rs1178123059
NM_153704.6(TMEM67):c.1032C>T (p.Leu344=)
NM_153704.6(TMEM67):c.1041A>G (p.Gln347=)
NM_153704.6(TMEM67):c.1065+12T>A rs1292614487
NM_153704.6(TMEM67):c.1065+12T>G rs1292614487
NM_153704.6(TMEM67):c.1065+17T>G rs2130669162
NM_153704.6(TMEM67):c.1065+7A>G rs2536847337
NM_153704.6(TMEM67):c.1065+9G>A rs2536847348
NM_153704.6(TMEM67):c.1066-7G>A rs978443277
NM_153704.6(TMEM67):c.108C>G (p.Ala36=) rs2130522054
NM_153704.6(TMEM67):c.1101T>C (p.Ala367=) rs758498141
NM_153704.6(TMEM67):c.1101T>G (p.Ala367=) rs758498141
NM_153704.6(TMEM67):c.1107A>G (p.Ser369=) rs2536850812
NM_153704.6(TMEM67):c.1131+16A>G rs2536851005
NM_153704.6(TMEM67):c.1131+9G>A rs1813883065
NM_153704.6(TMEM67):c.1132-14_1132-9del rs2130685786
NM_153704.6(TMEM67):c.1132-16T>C rs2536859809
NM_153704.6(TMEM67):c.1132-19T>G rs2536859768
NM_153704.6(TMEM67):c.114C>T (p.Thr38=) rs760103712
NM_153704.6(TMEM67):c.1227T>C (p.Tyr409=)
NM_153704.6(TMEM67):c.1230T>A (p.Ile410=) rs2536860518
NM_153704.6(TMEM67):c.1239G>C (p.Val413=) rs1356201430
NM_153704.6(TMEM67):c.1269T>C (p.Asn423=) rs2536860741
NM_153704.6(TMEM67):c.1288+10C>G rs2536860856
NM_153704.6(TMEM67):c.1288+14A>G rs1458179636
NM_153704.6(TMEM67):c.1288+15C>T rs1057523004
NM_153704.6(TMEM67):c.1288+15del rs2536860922
NM_153704.6(TMEM67):c.1288+9T>A rs2536860850
NM_153704.6(TMEM67):c.1288+9T>C rs2536860850
NM_153704.6(TMEM67):c.1289-10A>G
NM_153704.6(TMEM67):c.1289-6T>C rs746707583
NM_153704.6(TMEM67):c.1289-8A>G rs1814088796
NM_153704.6(TMEM67):c.1289-8A>T rs1814088796
NM_153704.6(TMEM67):c.1312C>T (p.Leu438=) rs2536864079
NM_153704.6(TMEM67):c.1317T>A (p.Thr439=) rs1814090920
NM_153704.6(TMEM67):c.1363T>C (p.Leu455=)
NM_153704.6(TMEM67):c.1371T>C (p.Thr457=) rs2536864460
NM_153704.6(TMEM67):c.1377A>G (p.Pro459=) rs2536864526
NM_153704.6(TMEM67):c.1386T>A (p.Ile462=) rs2536864594
NM_153704.6(TMEM67):c.1392T>C (p.Val464=)
NM_153704.6(TMEM67):c.1398T>G (p.Thr466=) rs2536864683
NM_153704.6(TMEM67):c.1412+10T>C rs2536864806
NM_153704.6(TMEM67):c.1412+12T>C rs1347187013
NM_153704.6(TMEM67):c.1412+13C>T rs2536864820
NM_153704.6(TMEM67):c.1413-6A>G rs747459933
NM_153704.6(TMEM67):c.1452C>T (p.Tyr484=) rs1463171314
NM_153704.6(TMEM67):c.1473C>G (p.Ala491=) rs1047816076
NM_153704.6(TMEM67):c.1506C>T (p.Ser502=) rs2536869921
NM_153704.6(TMEM67):c.1518+15del rs1814190578
NM_153704.6(TMEM67):c.1518+20G>T rs2536870027
NM_153704.6(TMEM67):c.1519-14G>C rs1477028372
NM_153704.6(TMEM67):c.1539T>C (p.Tyr513=)
NM_153704.6(TMEM67):c.1572A>G (p.Thr524=)
NM_153704.6(TMEM67):c.1575+15A>G rs1263636426
NM_153704.6(TMEM67):c.1575+16C>T rs2130711471
NM_153704.6(TMEM67):c.1576-19T>C rs1292261895
NM_153704.6(TMEM67):c.1576-20A>G rs1397119713
NM_153704.6(TMEM67):c.1576-7T>C rs767939125
NM_153704.6(TMEM67):c.1576-7T>G rs767939125
NM_153704.6(TMEM67):c.1576-9G>C rs760002634
NM_153704.6(TMEM67):c.1591T>C (p.Leu531=)
NM_153704.6(TMEM67):c.1599G>A (p.Gly533=) rs1178465539
NM_153704.6(TMEM67):c.1600C>T (p.Leu534=) rs2536888263
NM_153704.6(TMEM67):c.1605T>C (p.Ala535=) rs757285569
NM_153704.6(TMEM67):c.1609T>C (p.Leu537=)
NM_153704.6(TMEM67):c.1620T>G (p.Leu540=) rs2536888419
NM_153704.6(TMEM67):c.1653G>T (p.Gly551=)
NM_153704.6(TMEM67):c.1669T>C (p.Leu557=) rs2536888746
NM_153704.6(TMEM67):c.1674+12G>A rs1586063769
NM_153704.6(TMEM67):c.1674+17T>G rs2536888899
NM_153704.6(TMEM67):c.1674+8C>A
NM_153704.6(TMEM67):c.1675-10dup rs752404927
NM_153704.6(TMEM67):c.1675-8A>T rs1343054398
NM_153704.6(TMEM67):c.1690T>C (p.Leu564=) rs950429653
NM_153704.6(TMEM67):c.1740G>A (p.Val580=) rs973374114
NM_153704.6(TMEM67):c.1749T>C (p.Gly583=) rs2536896914
NM_153704.6(TMEM67):c.1773+13C>T rs2536897118
NM_153704.6(TMEM67):c.1773+17A>G rs2536897127
NM_153704.6(TMEM67):c.177C>A (p.Ala59=) rs772188678
NM_153704.6(TMEM67):c.177C>T (p.Ala59=) rs772188678
NM_153704.6(TMEM67):c.1785T>G (p.Ser595=) rs756722828
NM_153704.6(TMEM67):c.180C>T (p.Leu60=) rs780111733
NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly) rs142283122
NM_153704.6(TMEM67):c.1830C>G (p.Val610=) rs774478797
NM_153704.6(TMEM67):c.1830C>T (p.Val610=) rs774478797
NM_153704.6(TMEM67):c.1842A>G (p.Gly614=) rs2536899253
NM_153704.6(TMEM67):c.1860+10A>G rs2536899414
NM_153704.6(TMEM67):c.1860+14G>A rs369727716
NM_153704.6(TMEM67):c.1860+16C>G rs2536899453
NM_153704.6(TMEM67):c.1860+19G>T rs373634556
NM_153704.6(TMEM67):c.1861-16T>C rs948288540
NM_153704.6(TMEM67):c.1861-18A>G rs2536903066
NM_153704.6(TMEM67):c.18G>C (p.Gly6=) rs1812494244
NM_153704.6(TMEM67):c.1911C>T (p.Phe637=) rs863225225
NM_153704.6(TMEM67):c.1914T>C (p.Phe638=)
NM_153704.6(TMEM67):c.1941G>A (p.Lys647=)
NM_153704.6(TMEM67):c.1960+9A>T rs1431911428
NM_153704.6(TMEM67):c.1977A>C (p.Arg659=) rs2536904284
NM_153704.6(TMEM67):c.2010A>T (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2016T>C (p.Phe672=) rs1814670896
NM_153704.6(TMEM67):c.2100+11_2100+14del rs769252501
NM_153704.6(TMEM67):c.2100+13T>C rs2536904918
NM_153704.6(TMEM67):c.2101-10T>G rs1435643445
NM_153704.6(TMEM67):c.2101-13C>A rs1049924941
NM_153704.6(TMEM67):c.2101-13C>G rs1049924941
NM_153704.6(TMEM67):c.2101-14C>T rs934154309
NM_153704.6(TMEM67):c.2101-20A>C rs369488441
NM_153704.6(TMEM67):c.2101-20A>G rs369488441
NM_153704.6(TMEM67):c.2101-4C>T
NM_153704.6(TMEM67):c.2101-5T>C rs2536911973
NM_153704.6(TMEM67):c.2103T>G (p.Val701=) rs2536912016
NM_153704.6(TMEM67):c.2157C>T (p.Asn719=) rs2536912366
NM_153704.6(TMEM67):c.2160A>G (p.Pro720=) rs2536912393
NM_153704.6(TMEM67):c.2166C>T (p.Ser722=) rs1814780896
NM_153704.6(TMEM67):c.2175T>A (p.Ala725=) rs368159329
NM_153704.6(TMEM67):c.2181T>C (p.Tyr727=) rs1178440264
NM_153704.6(TMEM67):c.2184C>T (p.Ser728=) rs1456669205
NM_153704.6(TMEM67):c.2202A>G (p.Ala734=) rs1814783691
NM_153704.6(TMEM67):c.2214T>A (p.Ala738=) rs2536912761
NM_153704.6(TMEM67):c.2223A>G (p.Leu741=) rs2536912836
NM_153704.6(TMEM67):c.2226C>A (p.Ala742=) rs2536912846
NM_153704.6(TMEM67):c.223+7C>T rs2536753634
NM_153704.6(TMEM67):c.224-13_224-3del rs587779735
NM_153704.6(TMEM67):c.224-17T>C rs2536756199
NM_153704.6(TMEM67):c.224-20T>C rs1413301366
NM_153704.6(TMEM67):c.224-4_224-3insA rs2536756283
NM_153704.6(TMEM67):c.224-9T>G rs2536756243
NM_153704.6(TMEM67):c.2241+19A>G rs2536913077
NM_153704.6(TMEM67):c.2242-14A>G rs1185588616
NM_153704.6(TMEM67):c.2242-18C>T
NM_153704.6(TMEM67):c.2242-8T>C rs1814962506
NM_153704.6(TMEM67):c.2242-9A>T rs775871153
NM_153704.6(TMEM67):c.2244C>T (p.Val748=) rs1001805885
NM_153704.6(TMEM67):c.2247G>C (p.Val749=) rs1814963450
NM_153704.6(TMEM67):c.2268G>A (p.Glu756=) rs2536923730
NM_153704.6(TMEM67):c.2269A>C (p.Arg757=) rs779886525
NM_153704.6(TMEM67):c.2283T>C (p.Asp761=) rs2536923839
NM_153704.6(TMEM67):c.2295G>A (p.Gln765=) rs2536923873
NM_153704.6(TMEM67):c.2298C>T (p.Phe766=) rs372104198
NM_153704.6(TMEM67):c.231A>T (p.Ser77=) rs769535902
NM_153704.6(TMEM67):c.2322+11T>C rs2536924176
NM_153704.6(TMEM67):c.2322+11dup rs761531825
NM_153704.6(TMEM67):c.2322+17T>C rs775897167
NM_153704.6(TMEM67):c.2322+18T>G rs2536924217
NM_153704.6(TMEM67):c.2322+20A>G rs2536924231
NM_153704.6(TMEM67):c.2323-10C>G rs781307279
NM_153704.6(TMEM67):c.2323-4A>G rs2536929294
NM_153704.6(TMEM67):c.2343C>G (p.Ser781=) rs768944560
NM_153704.6(TMEM67):c.2343C>T (p.Ser781=) rs768944560
NM_153704.6(TMEM67):c.2373T>C (p.Gly791=) rs2130763777
NM_153704.6(TMEM67):c.237A>T (p.Val79=) rs772881100
NM_153704.6(TMEM67):c.2388G>C (p.Gly796=) rs1586083001
NM_153704.6(TMEM67):c.2388G>T (p.Gly796=) rs1586083001
NM_153704.6(TMEM67):c.2439+19del rs1563478194
NM_153704.6(TMEM67):c.2439+9A>G rs2130764128
NM_153704.6(TMEM67):c.243A>C (p.Leu81=) rs2536756623
NM_153704.6(TMEM67):c.2440-10_2440-6del
NM_153704.6(TMEM67):c.2440-13T>C rs1808572674
NM_153704.6(TMEM67):c.2442A>G (p.Glu814=) rs2536945857
NM_153704.6(TMEM67):c.2445T>C (p.Asn815=) rs1808573447
NM_153704.6(TMEM67):c.2446T>C (p.Leu816=)
NM_153704.6(TMEM67):c.246A>G (p.Pro82=) rs775763871
NM_153704.6(TMEM67):c.2475C>T (p.Asn825=) rs2536946131
NM_153704.6(TMEM67):c.2484T>A (p.Gly828=) rs2536946174
NM_153704.6(TMEM67):c.2505T>A (p.Ile835=) rs781586067
NM_153704.6(TMEM67):c.2508T>G (p.Ser836=)
NM_153704.6(TMEM67):c.2538T>C (p.Ile846=) rs2536946450
NM_153704.6(TMEM67):c.2544G>A (p.Glu848=) rs2536946507
NM_153704.6(TMEM67):c.2557-11_2557-3dup
NM_153704.6(TMEM67):c.2557-16C>G rs2130781103
NM_153704.6(TMEM67):c.2557-5A>G rs772215031
NM_153704.6(TMEM67):c.2565T>C (p.Gly855=) rs2536947153
NM_153704.6(TMEM67):c.2577A>G (p.Leu859=) rs375291384
NM_153704.6(TMEM67):c.2619A>G (p.Ala873=) rs1469398118
NM_153704.6(TMEM67):c.2619A>T (p.Ala873=) rs1469398118
NM_153704.6(TMEM67):c.2625T>C (p.His875=) rs2536947429
NM_153704.6(TMEM67):c.2661+14del rs2536947733
NM_153704.6(TMEM67):c.2661+17T>A rs2130781754
NM_153704.6(TMEM67):c.2662-16T>C rs2536949444
NM_153704.6(TMEM67):c.2662-6T>A rs1352699632
NM_153704.6(TMEM67):c.2673A>G (p.Glu891=) rs2536949551
NM_153704.6(TMEM67):c.2706T>C (p.Leu902=) rs2536949736
NM_153704.6(TMEM67):c.2709A>G (p.Glu903=)
NM_153704.6(TMEM67):c.270T>C (p.Asn90=) rs764492426
NM_153704.6(TMEM67):c.273A>C (p.Gly91=) rs1812547054
NM_153704.6(TMEM67):c.2764+7T>C
NM_153704.6(TMEM67):c.2765-5A>G rs1808862357
NM_153704.6(TMEM67):c.2769A>G (p.Glu923=) rs760403200
NM_153704.6(TMEM67):c.2772T>C (p.Gly924=) rs2536967286
NM_153704.6(TMEM67):c.2790C>T (p.Val930=) rs767620101
NM_153704.6(TMEM67):c.2793G>A (p.Leu931=) rs2536967499
NM_153704.6(TMEM67):c.2814T>C (p.Thr938=) rs777590979
NM_153704.6(TMEM67):c.2829T>C (p.Asp943=) rs2536967697
NM_153704.6(TMEM67):c.2835G>A (p.Leu945=) rs745807071
NM_153704.6(TMEM67):c.2856G>A (p.Leu952=) rs2536967866
NM_153704.6(TMEM67):c.2877A>G (p.Leu959=) rs2536968022
NM_153704.6(TMEM67):c.2883C>T (p.Ser961=) rs2536968078
NM_153704.6(TMEM67):c.2898A>G (p.Leu966=) rs1428039430
NM_153704.6(TMEM67):c.2908-10A>C rs1371332976
NM_153704.6(TMEM67):c.2908-15G>T rs2536971201
NM_153704.6(TMEM67):c.2908-20G>T rs2130802403
NM_153704.6(TMEM67):c.2931A>G (p.Thr977=)
NM_153704.6(TMEM67):c.2934A>G (p.Val978=) rs760007075
NM_153704.6(TMEM67):c.2947T>C (p.Leu983=) rs2536971556
NM_153704.6(TMEM67):c.312+15T>G rs2536757061
NM_153704.6(TMEM67):c.313-12C>G rs1268057428
NM_153704.6(TMEM67):c.313-12C>T rs1268057428
NM_153704.6(TMEM67):c.318T>C (p.Gly106=) rs1812680947
NM_153704.6(TMEM67):c.333C>G (p.Gly111=) rs768929156
NM_153704.6(TMEM67):c.360C>T (p.Asp120=) rs2536765698
NM_153704.6(TMEM67):c.36G>A (p.Ala12=) rs766615868
NM_153704.6(TMEM67):c.36G>C (p.Ala12=) rs766615868
NM_153704.6(TMEM67):c.39T>G (p.Val13=) rs2536752381
NM_153704.6(TMEM67):c.406+17T>A rs1812686194
NM_153704.6(TMEM67):c.406+18T>C rs2536766138
NM_153704.6(TMEM67):c.406+19A>G
NM_153704.6(TMEM67):c.406+7A>C rs2536766078
NM_153704.6(TMEM67):c.407-19T>C rs2536784264
NM_153704.6(TMEM67):c.407-6G>C rs1271174081
NM_153704.6(TMEM67):c.408G>T (p.Val136=) rs2536784387
NM_153704.6(TMEM67):c.423T>C (p.Asn141=) rs2536784455
NM_153704.6(TMEM67):c.444A>G (p.Ala148=)
NM_153704.6(TMEM67):c.45C>T (p.Ser15=) rs745667937
NM_153704.6(TMEM67):c.471A>G (p.Glu157=) rs1812962110
NM_153704.6(TMEM67):c.48C>T (p.Leu16=) rs1167084529
NM_153704.6(TMEM67):c.506+10G>A rs2536785005
NM_153704.6(TMEM67):c.506+13A>T rs2130577066
NM_153704.6(TMEM67):c.506+17G>C rs765210487
NM_153704.6(TMEM67):c.507-11A>G rs1813035747
NM_153704.6(TMEM67):c.507-14G>T rs773235020
NM_153704.6(TMEM67):c.507-16T>G rs367547273
NM_153704.6(TMEM67):c.522G>A (p.Glu174=) rs2536790126
NM_153704.6(TMEM67):c.537T>C (p.Asn179=)
NM_153704.6(TMEM67):c.546G>A (p.Arg182=) rs2130585586
NM_153704.6(TMEM67):c.576+14A>G
NM_153704.6(TMEM67):c.576+19A>C
NM_153704.6(TMEM67):c.576+9A>G rs2130585836
NM_153704.6(TMEM67):c.577-11T>C rs2536790781
NM_153704.6(TMEM67):c.577-12T>A rs2536790751
NM_153704.6(TMEM67):c.577-4del rs2536790843
NM_153704.6(TMEM67):c.577-8T>C rs2536790794
NM_153704.6(TMEM67):c.57C>A (p.Ala19=) rs749429162
NM_153704.6(TMEM67):c.594C>T (p.Phe198=) rs149290663
NM_153704.6(TMEM67):c.60G>A (p.Arg20=)
NM_153704.6(TMEM67):c.618A>G (p.Leu206=)
NM_153704.6(TMEM67):c.651+17T>C rs926157464
NM_153704.6(TMEM67):c.651+18T>C rs1813052394
NM_153704.6(TMEM67):c.651+19T>C rs2536791440
NM_153704.6(TMEM67):c.652-14C>A
NM_153704.6(TMEM67):c.652-18G>A rs1198930533
NM_153704.6(TMEM67):c.652-8G>T rs2536813043
NM_153704.6(TMEM67):c.654C>G (p.Gly218=) rs747750770
NM_153704.6(TMEM67):c.654C>T (p.Gly218=) rs747750770
NM_153704.6(TMEM67):c.66G>A (p.Val22=) rs1211790786
NM_153704.6(TMEM67):c.687T>C (p.Tyr229=) rs2536813302
NM_153704.6(TMEM67):c.69C>G (p.Thr23=) rs745801674
NM_153704.6(TMEM67):c.705T>C (p.Ala235=)
NM_153704.6(TMEM67):c.708A>G (p.Ala236=) rs2536813488
NM_153704.6(TMEM67):c.714+11A>G rs2536813623
NM_153704.6(TMEM67):c.714+14T>C rs935172963
NM_153704.6(TMEM67):c.714+7T>C rs2130622573
NM_153704.6(TMEM67):c.715-12G>A rs1237314532
NM_153704.6(TMEM67):c.715-12G>T rs1237314532
NM_153704.6(TMEM67):c.715-4G>C rs560467218
NM_153704.6(TMEM67):c.715-8T>C rs2536841456
NM_153704.6(TMEM67):c.741A>G (p.Gln247=) rs764081163
NM_153704.6(TMEM67):c.744T>C (p.Ala248=) rs2536841656
NM_153704.6(TMEM67):c.786T>C (p.Phe262=) rs1222482768
NM_153704.6(TMEM67):c.789C>T (p.Ala263=) rs933661498
NM_153704.6(TMEM67):c.801A>G (p.Ala267=) rs1479800199
NM_153704.6(TMEM67):c.810A>G (p.Leu270=) rs1237397798
NM_153704.6(TMEM67):c.840A>C (p.Gly280=) rs536761065
NM_153704.6(TMEM67):c.846C>T (p.Ser282=) rs1813782763
NM_153704.6(TMEM67):c.849T>G (p.Thr283=) rs769190569
NM_153704.6(TMEM67):c.864A>G (p.Ser288=)
NM_153704.6(TMEM67):c.869+17T>C rs767408748
NM_153704.6(TMEM67):c.869+17T>G rs767408748
NM_153704.6(TMEM67):c.870-16T>C rs2536842757
NM_153704.6(TMEM67):c.870-18A>T
NM_153704.6(TMEM67):c.870-8G>A rs2536842814
NM_153704.6(TMEM67):c.871A>C (p.Arg291=)
NM_153704.6(TMEM67):c.897T>C (p.Tyr299=) rs753372724
NM_153704.6(TMEM67):c.90C>T (p.Leu30=)
NM_153704.6(TMEM67):c.939C>T (p.Thr313=) rs781645408
NM_153704.6(TMEM67):c.972A>G (p.Glu324=) rs2130664789
NM_153704.6(TMEM67):c.978+12T>C rs2130664875
NM_153704.6(TMEM67):c.978+14_978+22del
NM_153704.6(TMEM67):c.978+17T>C rs1419647098
NM_153704.6(TMEM67):c.979-18C>T rs1452204629
NM_153704.6(TMEM67):c.99C>T (p.Phe33=) rs1812502098
NM_153704.6(TMEM67):c.9G>A (p.Thr3=) rs774376361

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