ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive congenital cerebellar ataxia by Invitae

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1593
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HGVS dbSNP gnomAD frequency
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile) rs199608505 0.00096
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221 0.00071
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) rs202130417 0.00063
NM_016464.5(TMEM138):c.461G>A (p.Arg154His) rs147966742 0.00059
NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs) rs777199366 0.00056
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg) rs373811074 0.00052
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) rs376795880 0.00049
NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val) rs61745095 0.00048
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046 0.00042
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys) rs551740936 0.00041
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728 0.00041
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys) rs200127338 0.00039
NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu) rs200535417 0.00038
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu) rs369060106 0.00036
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly) rs199996939 0.00034
NM_001329943.3(KIAA0586):c.1407G>T (p.Gln469His) rs200446131 0.00032
NM_001329943.3(KIAA0586):c.2503C>G (p.Leu835Val) rs113040775 0.00029
NM_001329943.3(KIAA0586):c.3407T>C (p.Ile1136Thr) rs200148591 0.00029
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617 0.00026
NM_001382391.1(CSPP1):c.1497-3C>T rs184342035 0.00026
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533 0.00025
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) rs199776253 0.00024
NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala) rs896789657 0.00024
NM_001329943.3(KIAA0586):c.3374C>T (p.Ala1125Val) rs201898983 0.00024
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg) rs370605967 0.00024
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447 0.00021
NM_001382391.1(CSPP1):c.3156+6C>T rs375100195 0.00021
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg) rs201797415 0.00021
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe) rs376578633 0.00020
NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile) rs753810786 0.00020
NM_001329943.3(KIAA0586):c.1237C>T (p.Pro413Ser) rs377325998 0.00019
NM_001329943.3(KIAA0586):c.411-1363G>C rs570489575 0.00019
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys) rs199901120 0.00019
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln) rs376338487 0.00018
NM_001382391.1(CSPP1):c.2294C>A (p.Ala765Glu) rs376549634 0.00018
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr) rs201412708 0.00017
NM_001329943.3(KIAA0586):c.411-1369A>G rs1044844835 0.00016
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser) rs377385599 0.00016
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala) rs374262758 0.00016
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val) rs866563020 0.00015
NM_001329943.3(KIAA0586):c.3377C>T (p.Ala1126Val) rs750969059 0.00015
NM_001382391.1(CSPP1):c.148A>G (p.Met50Val) rs375985758 0.00015
NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu) rs187783779 0.00014
NM_001329943.3(KIAA0586):c.1490A>G (p.Asn497Ser) rs753633031 0.00014
NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg) rs200627657 0.00014
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) rs201929144 0.00014
NM_001382391.1(CSPP1):c.-101A>G rs200250731 0.00014
NM_001382391.1(CSPP1):c.1675C>A (p.His559Asn) rs201417325 0.00014
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys) rs199521775 0.00014
NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser) rs776790149 0.00013
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs) rs748602759 0.00013
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) rs372018476 0.00012
NM_001329943.3(KIAA0586):c.1987C>T (p.Pro663Ser) rs370560098 0.00012
NM_001382391.1(CSPP1):c.1325A>G (p.His442Arg) rs373927950 0.00012
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala) rs781571059 0.00011
NM_001044385.3(TMEM237):c.989G>A (p.Ser330Asn) rs143081480 0.00011
NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser) rs376681702 0.00011
NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val) rs200735064 0.00011
NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile) rs201393625 0.00011
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala) rs371720718 0.00011
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter) rs200346372 0.00011
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu) rs368550470 0.00011
NM_001382391.1(CSPP1):c.653G>A (p.Arg218Gln) rs371211802 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr) rs576982977 0.00010
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser) rs563492919 0.00010
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser) rs200094677 0.00010
NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala) rs753972803 0.00010
NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn) rs372215354 0.00010
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu) rs372716023 0.00010
NM_001382391.1(CSPP1):c.2751A>C (p.Arg917Ser) rs201720914 0.00010
NM_018718.3(CEP41):c.145+6del rs782483563 0.00010
NM_018718.3(CEP41):c.422+6C>T rs199678365 0.00010
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe) rs782137799 0.00010
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=) rs375077045 0.00009
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=) rs758878104 0.00009
NM_001329943.3(KIAA0586):c.3841C>T (p.His1281Tyr) rs371424977 0.00009
NM_001329943.3(KIAA0586):c.411-1359T>G rs1051790402 0.00009
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser) rs371681100 0.00009
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser) rs201884732 0.00009
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln) rs763390190 0.00009
NM_016464.5(TMEM138):c.128+3G>T rs754691659 0.00009
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429 0.00009
NM_001329943.3(KIAA0586):c.2831A>T (p.Glu944Val) rs181400417 0.00008
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile) rs372259984 0.00008
NM_001329943.3(KIAA0586):c.347A>G (p.Asp116Gly) rs376113173 0.00008
NM_001329943.3(KIAA0586):c.4162G>A (p.Val1388Ile) rs369067010 0.00008
NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val) rs200405048 0.00008
NM_001382391.1(CSPP1):c.2245G>A (p.Glu749Lys) rs770075138 0.00008
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln) rs367949127 0.00008
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp) rs756423026 0.00008
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu) rs773659373 0.00008
NM_001329943.3(KIAA0586):c.1846G>T (p.Gly616Cys) rs766453312 0.00007
NM_001329943.3(KIAA0586):c.2943T>G (p.Ile981Met) rs370778483 0.00007
NM_001382391.1(CSPP1):c.1775C>G (p.Pro592Arg) rs767318500 0.00007
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu) rs752648207 0.00007
NM_001382391.1(CSPP1):c.244C>T (p.Arg82Trp) rs1024300760 0.00007
NM_001382391.1(CSPP1):c.2480A>G (p.Tyr827Cys) rs185130908 0.00007
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile) rs200546493 0.00007
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser) rs181079660 0.00007
NM_001382391.1(CSPP1):c.422A>G (p.Gln141Arg) rs775754786 0.00007
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val) rs775759544 0.00007
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly) rs781835148 0.00007
NM_001044385.3(TMEM237):c.1160-1G>A rs747465681 0.00006
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln) rs368402335 0.00006
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met) rs762041003 0.00006
NM_001077418.3(TMEM231):c.582+6A>G rs376300743 0.00006
NM_001329943.3(KIAA0586):c.1253+3A>G rs762698768 0.00006
NM_001329943.3(KIAA0586):c.1657G>C (p.Asp553His) rs1214561950 0.00006
NM_001329943.3(KIAA0586):c.1917T>G (p.Asp639Glu) rs376649351 0.00006
NM_001329943.3(KIAA0586):c.3031G>A (p.Glu1011Lys) rs755889131 0.00006
NM_001329943.3(KIAA0586):c.3698C>G (p.Thr1233Ser) rs201702546 0.00006
NM_001329943.3(KIAA0586):c.3988G>A (p.Glu1330Lys) rs373649439 0.00006
NM_001329943.3(KIAA0586):c.568G>A (p.Ala190Thr) rs755205238 0.00006
NM_001329943.3(KIAA0586):c.667C>T (p.Arg223Cys) rs573870218 0.00006
NM_001329943.3(KIAA0586):c.807+3A>T rs771308299 0.00006
NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro) rs553130671 0.00006
NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys) rs191232589 0.00006
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr) rs374330054 0.00006
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr) rs533227813 0.00006
NM_001382391.1(CSPP1):c.2419C>T (p.Arg807Trp) rs757384412 0.00006
NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr) rs376353407 0.00006
NM_001382391.1(CSPP1):c.2524G>A (p.Gly842Arg) rs371072368 0.00006
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly) rs374765060 0.00006
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val) rs553988238 0.00006
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg) rs564625875 0.00006
NM_018718.3(CEP41):c.407G>A (p.Arg136His) rs546106020 0.00006
NM_001077418.2(TMEM231):c.-62A>C rs964025567 0.00005
NM_001329943.3(KIAA0586):c.928C>T (p.Pro310Ser) rs1054781365 0.00005
NM_001329943.3(KIAA0586):c.968T>C (p.Leu323Ser) rs563531719 0.00005
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val) rs201536815 0.00005
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile) rs772097768 0.00005
NM_001382391.1(CSPP1):c.1842A>C (p.Glu614Asp) rs759299114 0.00005
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu) rs376210928 0.00005
NM_001382391.1(CSPP1):c.2267A>G (p.Glu756Gly) rs559765139 0.00005
NM_001382391.1(CSPP1):c.2420G>A (p.Arg807Gln) rs779204541 0.00005
NM_001382391.1(CSPP1):c.2702G>A (p.Arg901His) rs375978348 0.00005
NM_001382391.1(CSPP1):c.2710+6G>A rs369255080 0.00005
NM_016464.5(TMEM138):c.457C>G (p.Leu153Val) rs745506522 0.00005
NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala) rs764405866 0.00005
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp) rs370790275 0.00004
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met) rs755252433 0.00004
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met) rs374042611 0.00004
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro) rs200892635 0.00004
NM_001044385.3(TMEM237):c.686G>T (p.Gly229Val) rs374399278 0.00004
NM_001077418.3(TMEM231):c.140-33C>T rs901311435 0.00004
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098 0.00004
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln) rs756494100 0.00004
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr) rs770469234 0.00004
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met) rs373660568 0.00004
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His) rs753292136 0.00004
NM_001329943.3(KIAA0586):c.1031G>A (p.Arg344His) rs773375756 0.00004
NM_001329943.3(KIAA0586):c.1433A>G (p.Asn478Ser) rs773524165 0.00004
NM_001329943.3(KIAA0586):c.1847G>C (p.Gly616Ala) rs774592908 0.00004
NM_001329943.3(KIAA0586):c.2015C>G (p.Pro672Arg) rs749825699 0.00004
NM_001329943.3(KIAA0586):c.2026C>T (p.Pro676Ser) rs967603971 0.00004
NM_001329943.3(KIAA0586):c.2531C>A (p.Pro844His) rs200490147 0.00004
NM_001329943.3(KIAA0586):c.3257C>T (p.Ser1086Leu) rs772256006 0.00004
NM_001329943.3(KIAA0586):c.3261T>A (p.Asp1087Glu) rs1049863128 0.00004
NM_001329943.3(KIAA0586):c.3556C>A (p.Pro1186Thr) rs368136238 0.00004
NM_001329943.3(KIAA0586):c.3682A>G (p.Ser1228Gly) rs761946256 0.00004
NM_001329943.3(KIAA0586):c.4436C>G (p.Pro1479Arg) rs374096160 0.00004
NM_001329943.3(KIAA0586):c.4495+3791G>A rs924361010 0.00004
NM_001329943.3(KIAA0586):c.620T>C (p.Val207Ala) rs199837404 0.00004
NM_001382391.1(CSPP1):c.1034A>G (p.Asn345Ser) rs1372095738 0.00004
NM_001382391.1(CSPP1):c.1432C>A (p.Pro478Thr) rs371566997 0.00004
NM_001382391.1(CSPP1):c.1606A>C (p.Ser536Arg) rs763307442 0.00004
NM_001382391.1(CSPP1):c.1827+5T>C rs897591892 0.00004
NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe) rs374318063 0.00004
NM_001382391.1(CSPP1):c.2161C>T (p.Arg721Trp) rs778822396 0.00004
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys) rs753718429 0.00004
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser) rs750443075 0.00004
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu) rs768603321 0.00004
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln) rs201972175 0.00004
NM_001382391.1(CSPP1):c.865A>G (p.Arg289Gly) rs374744285 0.00004
NM_001382391.1(CSPP1):c.902C>T (p.Ser301Leu) rs761172555 0.00004
NM_001382391.1(CSPP1):c.919G>A (p.Asp307Asn) rs113092257 0.00004
NM_016464.5(TMEM138):c.193G>A (p.Val65Ile) rs763118625 0.00004
NM_016464.5(TMEM138):c.377-3C>T rs774110963 0.00004
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) rs371812716 0.00004
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly) rs782048004 0.00004
NM_018718.3(CEP41):c.716T>C (p.Met239Thr) rs200882016 0.00004
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu) rs200709703 0.00004
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg) rs782392521 0.00004
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr) rs776825848 0.00003
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val) rs957203033 0.00003
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp) rs972949531 0.00003
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly) rs771350638 0.00003
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr) rs772074875 0.00003
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val) rs768672107 0.00003
NM_001044385.3(TMEM237):c.869+4A>G rs771107990 0.00003
NM_001077418.2(TMEM231):c.-46G>A rs752769188 0.00003
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser) rs372775075 0.00003
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn) rs769321473 0.00003
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln) rs1033608835 0.00003
NM_001329943.3(KIAA0586):c.1160A>G (p.Asn387Ser) rs1168640996 0.00003
NM_001329943.3(KIAA0586):c.1444T>C (p.Ser482Pro) rs375472516 0.00003
NM_001329943.3(KIAA0586):c.1797A>T (p.Lys599Asn) rs556030955 0.00003
NM_001329943.3(KIAA0586):c.2198T>C (p.Met733Thr) rs752363556 0.00003
NM_001329943.3(KIAA0586):c.2354G>A (p.Arg785Gln) rs372212501 0.00003
NM_001329943.3(KIAA0586):c.2623G>A (p.Asp875Asn) rs770913768 0.00003
NM_001329943.3(KIAA0586):c.2965G>A (p.Ala989Thr) rs767605168 0.00003
NM_001329943.3(KIAA0586):c.3526A>G (p.Ile1176Val) rs777965178 0.00003
NM_001329943.3(KIAA0586):c.3908A>G (p.Lys1303Arg) rs767855931 0.00003
NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala) rs962979142 0.00003
NM_001329943.3(KIAA0586):c.4573G>A (p.Glu1525Lys) rs375085808 0.00003
NM_001329943.3(KIAA0586):c.518T>C (p.Ile173Thr) rs773960033 0.00003
NM_001329943.3(KIAA0586):c.986C>T (p.Thr329Met) rs747277541 0.00003
NM_001382391.1(CSPP1):c.1217C>T (p.Ala406Val) rs775268714 0.00003
NM_001382391.1(CSPP1):c.1453C>T (p.Arg485Cys) rs759265787 0.00003
NM_001382391.1(CSPP1):c.1703C>T (p.Thr568Met) rs375847469 0.00003
NM_001382391.1(CSPP1):c.1975+4C>T rs779380282 0.00003
NM_001382391.1(CSPP1):c.2276G>A (p.Arg759Gln) rs763911288 0.00003
NM_001382391.1(CSPP1):c.2336G>A (p.Arg779Gln) rs780070875 0.00003
NM_001382391.1(CSPP1):c.289C>T (p.Arg97Cys) rs374169543 0.00003
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr) rs767140972 0.00003
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val) rs199738369 0.00003
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe) rs1421998303 0.00003
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys) rs781579090 0.00003
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys) rs770271054 0.00003
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val) rs199831541 0.00003
NM_001382391.1(CSPP1):c.935A>G (p.Asn312Ser) rs769726340 0.00003
NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala) rs755251825 0.00003
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu) rs774141923 0.00003
NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp) rs750788154 0.00003
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser) rs782131552 0.00003
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys) rs138907207 0.00003
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala) rs782769549 0.00003
NM_018718.3(CEP41):c.536G>A (p.Arg179His) rs140259402 0.00003
NM_018718.3(CEP41):c.725G>A (p.Arg242His) rs191246968 0.00003
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln) rs782105300 0.00003
NM_001044385.3(TMEM237):c.137-3T>C rs540193518 0.00002
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser) rs1269827788 0.00002
NM_001044385.3(TMEM237):c.206C>G (p.Thr69Ser) rs372581479 0.00002
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu) rs17856844 0.00002
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp) rs754056989 0.00002
NM_001077418.3(TMEM231):c.-17G>A rs768513169 0.00002
NM_001077418.3(TMEM231):c.139+17C>T rs759518508 0.00002
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln) rs771783989 0.00002
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447 0.00002
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser) rs775968168 0.00002
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=) rs774761408 0.00002
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr) rs768932063 0.00002
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val) rs778298588 0.00002
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys) rs374279951 0.00002
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr) rs775383043 0.00002
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu) rs761280513 0.00002
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp) rs770715825 0.00002
NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu) rs1251319519 0.00002
NM_001244189.2(KIAA0586):c.9+1G>A rs1490434047 0.00002
NM_001329943.3(KIAA0586):c.1478G>C (p.Gly493Ala) rs780301208 0.00002
NM_001329943.3(KIAA0586):c.1529G>A (p.Arg510His) rs749710241 0.00002
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys) rs1040832003 0.00002
NM_001329943.3(KIAA0586):c.2171A>G (p.Gln724Arg) rs758553529 0.00002
NM_001329943.3(KIAA0586):c.2201C>G (p.Pro734Arg) rs372160214 0.00002
NM_001329943.3(KIAA0586):c.2269A>G (p.Asn757Asp) rs770532816 0.00002
NM_001329943.3(KIAA0586):c.2279C>A (p.Thr760Asn) rs745459956 0.00002
NM_001329943.3(KIAA0586):c.2288C>T (p.Pro763Leu) rs762324359 0.00002
NM_001329943.3(KIAA0586):c.2338A>G (p.Ile780Val) rs752597351 0.00002
NM_001329943.3(KIAA0586):c.2634+4A>G rs1373493143 0.00002
NM_001329943.3(KIAA0586):c.269G>A (p.Ser90Asn) rs780403471 0.00002
NM_001329943.3(KIAA0586):c.2743G>A (p.Ala915Thr) rs757075176 0.00002
NM_001329943.3(KIAA0586):c.2765C>T (p.Ala922Val) rs778611816 0.00002
NM_001329943.3(KIAA0586):c.2810A>G (p.Asn937Ser) rs1287641719 0.00002
NM_001329943.3(KIAA0586):c.2984A>G (p.Asp995Gly) rs368583200 0.00002
NM_001329943.3(KIAA0586):c.3259G>A (p.Asp1087Asn) rs780444812 0.00002
NM_001329943.3(KIAA0586):c.3260A>G (p.Asp1087Gly) rs747213685 0.00002
NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala) rs773967297 0.00002
NM_001329943.3(KIAA0586):c.3511C>G (p.Leu1171Val) rs752970542 0.00002
NM_001329943.3(KIAA0586):c.3971A>G (p.Gln1324Arg) rs554032625 0.00002
NM_001329943.3(KIAA0586):c.4093C>T (p.Pro1365Ser) rs776582851 0.00002
NM_001329943.3(KIAA0586):c.411-1420A>G rs1037899594 0.00002
NM_001329943.3(KIAA0586):c.4207A>G (p.Met1403Val) rs890327400 0.00002
NM_001329943.3(KIAA0586):c.4451G>A (p.Arg1484Gln) rs746312329 0.00002
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser) rs757161449 0.00002
NM_001329943.3(KIAA0586):c.836C>T (p.Thr279Ile) rs779264142 0.00002
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala) rs533327313 0.00002
NM_001382391.1(CSPP1):c.1651G>A (p.Ala551Thr) rs373749366 0.00002
NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr) rs781313362 0.00002
NM_001382391.1(CSPP1):c.1984A>G (p.Asn662Asp) rs746165769 0.00002
NM_001382391.1(CSPP1):c.2314C>T (p.Arg772Trp) rs369228037 0.00002
NM_001382391.1(CSPP1):c.2624T>C (p.Ile875Thr) rs751572039 0.00002
NM_001382391.1(CSPP1):c.2762G>A (p.Arg921His) rs376724794 0.00002
NM_001382391.1(CSPP1):c.2777G>A (p.Arg926His) rs775629891 0.00002
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu) rs755275549 0.00002
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser) rs200930857 0.00002
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp) rs759630451 0.00002
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter) rs201261521 0.00002
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg) rs527426163 0.00002
NM_001382391.1(CSPP1):c.404G>A (p.Arg135His) rs1386679081 0.00002
NM_001382391.1(CSPP1):c.683A>G (p.Asn228Ser) rs765332591 0.00002
NM_001382391.1(CSPP1):c.729C>G (p.Asn243Lys) rs749026327 0.00002
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys) rs114953032 0.00002
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His) rs781737308 0.00002
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg) rs377496424 0.00002
NM_016464.5(TMEM138):c.136G>C (p.Asp46His) rs375503806 0.00002
NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys) rs202210746 0.00002
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg) rs782371437 0.00002
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr) rs201490201 0.00002
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter) rs139909606 0.00002
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165 0.00002
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser) rs781914996 0.00002
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe) rs782265732 0.00002
NM_018718.3(CEP41):c.653A>C (p.His218Pro) rs527896814 0.00002
NM_018718.3(CEP41):c.664A>G (p.Ile222Val) rs560824415 0.00002
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu) rs782241458 0.00002
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu) rs782704918 0.00002
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu) rs1559590115 0.00001
NM_001044385.3(TMEM237):c.1038-6T>G rs758523904 0.00001
NM_001044385.3(TMEM237):c.1135A>T (p.Arg379Trp) rs747158935 0.00001
NM_001044385.3(TMEM237):c.1144A>G (p.Met382Val) rs1437714395 0.00001
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys) rs373445814 0.00001
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp) rs779250127 0.00001
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys) rs1186656902 0.00001
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val) rs759392151 0.00001
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val) rs772680401 0.00001
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser) rs750312169 0.00001
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala) rs184256195 0.00001
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu) rs771052304 0.00001
NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys) rs762678333 0.00001
NM_001044385.3(TMEM237):c.553C>A (p.Arg185=) rs754056989 0.00001
NM_001044385.3(TMEM237):c.575G>A (p.Arg192His) rs186216206 0.00001
NM_001044385.3(TMEM237):c.59T>C (p.Leu20Pro) rs373956551 0.00001
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr) rs773685442 0.00001
NM_001044385.3(TMEM237):c.665A>G (p.His222Arg) rs749330370 0.00001
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080 0.00001
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=) rs370681829 0.00001
NM_001044385.3(TMEM237):c.716G>C (p.Cys239Ser) rs769694232 0.00001
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met) rs759814109 0.00001
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448 0.00001
NM_001044385.3(TMEM237):c.869+5T>C rs530769303 0.00001
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys) rs1209527419 0.00001
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln) rs745540263 0.00001
NM_001044385.3(TMEM237):c.943+5G>A rs779322966 0.00001
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His) rs576586379 0.00001
NM_001077418.2(TMEM231):c.-44C>A rs1419518232 0.00001
NM_001077418.3(TMEM231):c.-12C>G rs745498623 0.00001
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521 0.00001
NM_001077418.3(TMEM231):c.139+23G>A rs770598456 0.00001
NM_001077418.3(TMEM231):c.139+25C>T rs1474874368 0.00001
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg) rs766492182 0.00001
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val) rs1309156955 0.00001
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn) rs759954710 0.00001
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg) rs1255071095 0.00001
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro) rs1202833405 0.00001
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val) rs750935858 0.00001
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser) rs566395744 0.00001
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser) rs778407563 0.00001
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg) rs763194213 0.00001
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met) rs745485432 0.00001
NM_001077418.3(TMEM231):c.665-3C>T rs780063686 0.00001
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile) rs746055228 0.00001
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189 0.00001
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=) rs746685376 0.00001
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu) rs1230743826 0.00001
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val) rs768632156 0.00001
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln) rs746970206 0.00001
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=) rs1435643293 0.00001
NM_001329943.3(KIAA0586):c.*10G>A rs1280881561 0.00001
NM_001329943.3(KIAA0586):c.*24del rs775748329 0.00001
NM_001329943.3(KIAA0586):c.1007C>G (p.Ser336Cys) rs781781110 0.00001
NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met) rs769423672 0.00001
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) rs771000156 0.00001
NM_001329943.3(KIAA0586):c.1048_1049insACA (p.Pro350delinsHisThr) rs1406399353 0.00001
NM_001329943.3(KIAA0586):c.1078A>T (p.Arg360Trp) rs932782936 0.00001
NM_001329943.3(KIAA0586):c.1253+4A>G rs1182604650 0.00001
NM_001329943.3(KIAA0586):c.1396G>A (p.Asp466Asn) rs757196467 0.00001
NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile) rs779792778 0.00001
NM_001329943.3(KIAA0586):c.1516G>A (p.Glu506Lys) rs746704306 0.00001
NM_001329943.3(KIAA0586):c.1528C>T (p.Arg510Cys) rs778123212 0.00001
NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys) rs1445118511 0.00001
NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His) rs753917457 0.00001
NM_001329943.3(KIAA0586):c.1574C>G (p.Ser525Cys) rs1173352052 0.00001
NM_001329943.3(KIAA0586):c.1588A>T (p.Met530Leu) rs747120591 0.00001
NM_001329943.3(KIAA0586):c.1676A>G (p.Asp559Gly) rs1020004939 0.00001
NM_001329943.3(KIAA0586):c.1738A>G (p.Lys580Glu) rs1297075839 0.00001
NM_001329943.3(KIAA0586):c.1745T>C (p.Ile582Thr) rs1039498791 0.00001
NM_001329943.3(KIAA0586):c.1918G>A (p.Glu640Lys) rs1595193868 0.00001
NM_001329943.3(KIAA0586):c.1967G>A (p.Arg656Gln) rs1047721846 0.00001
NM_001329943.3(KIAA0586):c.199+6T>A rs764690540 0.00001
NM_001329943.3(KIAA0586):c.2051G>A (p.Arg684Gln) rs547990270 0.00001
NM_001329943.3(KIAA0586):c.2092G>T (p.Asp698Tyr) rs371583234 0.00001
NM_001329943.3(KIAA0586):c.2104A>G (p.Thr702Ala) rs558410911 0.00001
NM_001329943.3(KIAA0586):c.2119A>G (p.Met707Val) rs1200934389 0.00001
NM_001329943.3(KIAA0586):c.2123A>G (p.Asp708Gly) rs373601253 0.00001
NM_001329943.3(KIAA0586):c.2228A>T (p.His743Leu) rs1190897774 0.00001
NM_001329943.3(KIAA0586):c.2402T>A (p.Met801Lys) rs1267499182 0.00001
NM_001329943.3(KIAA0586):c.2417A>G (p.Lys806Arg) rs773759282 0.00001
NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn) rs922088604 0.00001
NM_001329943.3(KIAA0586):c.245T>C (p.Leu82Ser) rs955530356 0.00001
NM_001329943.3(KIAA0586):c.2511C>A (p.Ser837Arg) rs377409718 0.00001
NM_001329943.3(KIAA0586):c.2533C>T (p.Pro845Ser) rs377023593 0.00001
NM_001329943.3(KIAA0586):c.2629A>C (p.Ile877Leu) rs1338718674 0.00001
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly) rs770688785 0.00001
NM_001329943.3(KIAA0586):c.2719A>G (p.Asn907Asp) rs1261333772 0.00001
NM_001329943.3(KIAA0586):c.2728C>T (p.Pro910Ser) rs752882356 0.00001
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) rs537951340 0.00001
NM_001329943.3(KIAA0586):c.2822A>T (p.Gln941Leu) rs768032063 0.00001
NM_001329943.3(KIAA0586):c.2866T>C (p.Phe956Leu) rs943207254 0.00001
NM_001329943.3(KIAA0586):c.2908G>A (p.Val970Ile) rs368808852 0.00001
NM_001329943.3(KIAA0586):c.2938G>C (p.Asp980His) rs754818478 0.00001
NM_001329943.3(KIAA0586):c.2947G>A (p.Glu983Lys) rs563109987 0.00001
NM_001329943.3(KIAA0586):c.3143C>T (p.Pro1048Leu) rs369859399 0.00001
NM_001329943.3(KIAA0586):c.3170C>T (p.Thr1057Ile) rs772489368 0.00001
NM_001329943.3(KIAA0586):c.3205C>T (p.Pro1069Ser) rs766060506 0.00001
NM_001329943.3(KIAA0586):c.3247C>T (p.Pro1083Ser) rs373431045 0.00001
NM_001329943.3(KIAA0586):c.3325A>G (p.Met1109Val) rs773159825 0.00001
NM_001329943.3(KIAA0586):c.3350C>A (p.Thr1117Asn) rs758962196 0.00001
NM_001329943.3(KIAA0586):c.3391C>T (p.Pro1131Ser) rs1413013409 0.00001
NM_001329943.3(KIAA0586):c.3404A>G (p.Asp1135Gly) rs751729993 0.00001
NM_001329943.3(KIAA0586):c.3422T>C (p.Leu1141Ser) rs755937342 0.00001
NM_001329943.3(KIAA0586):c.3450G>C (p.Lys1150Asn) rs199517530 0.00001
NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu) rs1190269049 0.00001
NM_001329943.3(KIAA0586):c.3542C>G (p.Ala1181Gly) rs910865335 0.00001
NM_001329943.3(KIAA0586):c.3599C>T (p.Pro1200Leu) rs539304161 0.00001
NM_001329943.3(KIAA0586):c.3679G>C (p.Glu1227Gln) rs560315226 0.00001
NM_001329943.3(KIAA0586):c.3715A>G (p.Thr1239Ala) rs201889432 0.00001
NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val) rs1223415414 0.00001
NM_001329943.3(KIAA0586):c.3797G>C (p.Gly1266Ala) rs1256817386 0.00001
NM_001329943.3(KIAA0586):c.3857T>C (p.Met1286Thr) rs1256644781 0.00001
NM_001329943.3(KIAA0586):c.3884A>G (p.Gln1295Arg) rs1019828731 0.00001
NM_001329943.3(KIAA0586):c.3885A>C (p.Gln1295His) rs779179754 0.00001
NM_001329943.3(KIAA0586):c.3910T>A (p.Phe1304Ile) rs1441855459 0.00001
NM_001329943.3(KIAA0586):c.3914A>T (p.His1305Leu) rs966912655 0.00001
NM_001329943.3(KIAA0586):c.3935T>C (p.Phe1312Ser) rs912168236 0.00001
NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile) rs775143643 0.00001
NM_001329943.3(KIAA0586):c.4060A>G (p.Ile1354Val) rs1446993944 0.00001
NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr) rs1188851321 0.00001
NM_001329943.3(KIAA0586):c.4094C>T (p.Pro1365Leu) rs752429234 0.00001
NM_001329943.3(KIAA0586):c.4147C>T (p.Arg1383Trp) rs1015444951 0.00001
NM_001329943.3(KIAA0586):c.419G>A (p.Ser140Asn) rs754191741 0.00001
NM_001329943.3(KIAA0586):c.4496-3808A>C rs181384924 0.00001
NM_001329943.3(KIAA0586):c.4512A>G (p.Pro1504=) rs1476732636 0.00001
NM_001329943.3(KIAA0586):c.4572C>T (p.Leu1524=) rs371910625 0.00001
NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile) rs540188519 0.00001
NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met) rs1260723288 0.00001
NM_001329943.3(KIAA0586):c.556G>C (p.Ala186Pro) rs758886732 0.00001
NM_001329943.3(KIAA0586):c.592A>C (p.Ser198Arg) rs375374719 0.00001
NM_001329943.3(KIAA0586):c.668G>A (p.Arg223His) rs779062959 0.00001
NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu) rs780198735 0.00001
NM_001329943.3(KIAA0586):c.848A>G (p.Gln283Arg) rs772425621 0.00001
NM_001329943.3(KIAA0586):c.868T>G (p.Ser290Ala) rs1372486181 0.00001
NM_001329943.3(KIAA0586):c.881A>G (p.Glu294Gly) rs765495285 0.00001
NM_001329943.3(KIAA0586):c.892G>A (p.Val298Ile) rs751564059 0.00001
NM_001329943.3(KIAA0586):c.956A>G (p.Lys319Arg) rs1297972335 0.00001
NM_001382391.1(CSPP1):c.-102G>A rs1805078439 0.00001
NM_001382391.1(CSPP1):c.-116C>T rs371071297 0.00001
NM_001382391.1(CSPP1):c.-140C>G rs770993498 0.00001
NM_001382391.1(CSPP1):c.-146T>A rs749476046 0.00001
NM_001382391.1(CSPP1):c.-75C>T rs918221746 0.00001
NM_001382391.1(CSPP1):c.100-3C>T rs919525492 0.00001
NM_001382391.1(CSPP1):c.1009G>T (p.Ala337Ser) rs1395802185 0.00001
NM_001382391.1(CSPP1):c.1115T>C (p.Ile372Thr) rs1445583372 0.00001
NM_001382391.1(CSPP1):c.1194A>T (p.Lys398Asn) rs1037020711 0.00001
NM_001382391.1(CSPP1):c.1241A>T (p.Lys414Ile) rs1231591915 0.00001
NM_001382391.1(CSPP1):c.1315G>A (p.Ala439Thr) rs1460794902 0.00001
NM_001382391.1(CSPP1):c.1400C>A (p.Ser467Tyr) rs974893054 0.00001
NM_001382391.1(CSPP1):c.1433C>G (p.Pro478Arg) rs1438276592 0.00001
NM_001382391.1(CSPP1):c.1502C>T (p.Ala501Val) rs755596091 0.00001
NM_001382391.1(CSPP1):c.1540A>G (p.Thr514Ala) rs1818321960 0.00001
NM_001382391.1(CSPP1):c.1550G>A (p.Arg517Gln) rs778430027 0.00001
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser) rs1818326433 0.00001
NM_001382391.1(CSPP1):c.1568C>A (p.Ala523Glu) rs375900507 0.00001
NM_001382391.1(CSPP1):c.1591A>G (p.Asn531Asp) rs768395830 0.00001
NM_001382391.1(CSPP1):c.1619A>G (p.Tyr540Cys) rs1818416279 0.00001
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala) rs754153035 0.00001
NM_001382391.1(CSPP1):c.1827+3A>G rs1449112719 0.00001
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp) rs527674289 0.00001
NM_001382391.1(CSPP1):c.1843G>C (p.Glu615Gln) rs1822579573 0.00001
NM_001382391.1(CSPP1):c.1861C>T (p.Arg621Cys) rs760288983 0.00001
NM_001382391.1(CSPP1):c.1871A>G (p.Lys624Arg) rs1452211221 0.00001
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly) rs1212455505 0.00001
NM_001382391.1(CSPP1):c.1928A>G (p.Lys643Arg) rs1822600510 0.00001
NM_001382391.1(CSPP1):c.199+13A>G rs756283251 0.00001
NM_001382391.1(CSPP1):c.1997G>A (p.Arg666Lys) rs1420249213 0.00001
NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr) rs968055651 0.00001
NM_001382391.1(CSPP1):c.2018A>G (p.His673Arg) rs769707621 0.00001
NM_001382391.1(CSPP1):c.2080G>T (p.Ala694Ser) rs751023936 0.00001
NM_001382391.1(CSPP1):c.2129G>C (p.Gly710Ala) rs780885390 0.00001
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile) rs577752590 0.00001
NM_001382391.1(CSPP1):c.2162G>A (p.Arg721Gln) rs201974031 0.00001
NM_001382391.1(CSPP1):c.2168A>G (p.Asn723Ser) rs1826216893 0.00001
NM_001382391.1(CSPP1):c.2234G>A (p.Arg745His) rs769971911 0.00001
NM_001382391.1(CSPP1):c.2284C>A (p.Leu762Met) rs760013419 0.00001
NM_001382391.1(CSPP1):c.2332G>A (p.Ala778Thr) rs1421808533 0.00001
NM_001382391.1(CSPP1):c.2435G>A (p.Arg812Lys) rs1251717089 0.00001
NM_001382391.1(CSPP1):c.2510G>A (p.Arg837Lys) rs765955382 0.00001
NM_001382391.1(CSPP1):c.253C>T (p.His85Tyr) rs769473253 0.00001
NM_001382391.1(CSPP1):c.262A>G (p.Lys88Glu) rs1332974255 0.00001
NM_001382391.1(CSPP1):c.2654T>C (p.Met885Thr) rs894040195 0.00001
NM_001382391.1(CSPP1):c.2677G>A (p.Val893Ile) rs1828816022 0.00001
NM_001382391.1(CSPP1):c.2732T>A (p.Met911Lys) rs746260241 0.00001
NM_001382391.1(CSPP1):c.275G>C (p.Arg92Pro) rs764280843 0.00001
NM_001382391.1(CSPP1):c.2773A>G (p.Arg925Gly) rs772949501 0.00001
NM_001382391.1(CSPP1):c.2776C>T (p.Arg926Cys) rs373151997 0.00001
NM_001382391.1(CSPP1):c.2789G>A (p.Arg930Gln) rs377493480 0.00001
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val) rs370720351 0.00001
NM_001382391.1(CSPP1):c.2807G>A (p.Ser936Asn) rs1381482450 0.00001
NM_001382391.1(CSPP1):c.2813A>G (p.Asp938Gly) rs1282726257 0.00001
NM_001382391.1(CSPP1):c.2829-3T>C rs1830657246 0.00001
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr) rs1162661826 0.00001
NM_001382391.1(CSPP1):c.2866G>T (p.Ala956Ser) rs745710780 0.00001
NM_001382391.1(CSPP1):c.2910G>C (p.Lys970Asn) rs766939685 0.00001
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn) rs1384362094 0.00001
NM_001382391.1(CSPP1):c.303+3A>T rs920556156 0.00001
NM_001382391.1(CSPP1):c.3109+5G>C rs772586492 0.00001
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val) rs370238037 0.00001
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His) rs766496985 0.00001
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile) rs1368965128 0.00001
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile) rs778723931 0.00001
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys) rs758825560 0.00001
NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala) rs778293599 0.00001
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys) rs537833447 0.00001
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr) rs1017040124 0.00001
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser) rs1158377033 0.00001
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro) rs766061975 0.00001
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr) rs1170601676 0.00001
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His) rs752140903 0.00001
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His) rs748165041 0.00001
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His) rs1241589485 0.00001
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter) rs936435444 0.00001
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser) rs377160929 0.00001
NM_001382391.1(CSPP1):c.500A>G (p.Asn167Ser) rs1395114211 0.00001
NM_001382391.1(CSPP1):c.502A>C (p.Lys168Gln) rs772650396 0.00001
NM_001382391.1(CSPP1):c.509C>A (p.Pro170His) rs762548335 0.00001
NM_001382391.1(CSPP1):c.650A>G (p.Tyr217Cys) rs747784602 0.00001
NM_001382391.1(CSPP1):c.659T>C (p.Leu220Pro) rs1339065259 0.00001
NM_001382391.1(CSPP1):c.697A>G (p.Lys233Glu) rs752084244 0.00001
NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp) rs748917623 0.00001
NM_001382391.1(CSPP1):c.875A>G (p.Tyr292Cys) rs1369528194 0.00001
NM_001382391.1(CSPP1):c.908T>C (p.Val303Ala) rs764343140 0.00001
NM_001382391.1(CSPP1):c.929A>G (p.His310Arg) rs374738280 0.00001
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln) rs1173092063 0.00001
NM_001382391.1(CSPP1):c.989C>T (p.Ser330Leu) rs754454865 0.00001
NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp) rs766349558 0.00001
NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr) rs767361822 0.00001
NM_016464.5(TMEM138):c.308G>A (p.Arg103His) rs781769843 0.00001
NM_016464.5(TMEM138):c.392G>C (p.Cys131Ser) rs934639615 0.00001
NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser) rs775913576 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln) rs782089459 0.00001
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser) rs782590600 0.00001
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val) rs781832103 0.00001
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro) rs587780311 0.00001
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly) rs201504407 0.00001
NM_018718.3(CEP41):c.145+3A>G rs782008140 0.00001
NM_018718.3(CEP41):c.145+5G>A rs1413177096 0.00001
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu) rs1554419921 0.00001
NM_018718.3(CEP41):c.164A>T (p.Asp55Val) rs782776244 0.00001
NM_018718.3(CEP41):c.200C>T (p.Ala67Val) rs782426353 0.00001
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly) rs1554417870 0.00001
NM_018718.3(CEP41):c.308C>T (p.Ala103Val) rs369687508 0.00001
NM_018718.3(CEP41):c.565A>G (p.Ile189Val) rs782591147 0.00001
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys) rs782466306 0.00001
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys) rs1554416667 0.00001
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu) rs782815662 0.00001
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp) rs782729874 0.00001
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys) rs782435349 0.00001
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu) rs782474335 0.00001
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004 0.00001
NC_000002.11:g.(?_202334676)_(202523241_?)dup
NC_000002.11:g.(?_202488978)_(202508123_?)dup
NC_000002.11:g.(?_202496774)_(202498154_?)del
NC_000008.10:g.(?_67786376)_(68165857_?)dup
NC_000008.10:g.(?_67976634)_(68071392_?)dup
NC_000008.10:g.(?_68015252)_(68015390_?)dup
NC_000008.10:g.(?_68024187)_(68107828_?)dup
NC_000008.10:g.(?_68024187)_(68107848_?)dup
NC_000008.10:g.(?_68024197)_(68107828_?)dup
NC_000008.10:g.(?_68070662)_(68071392_?)del
NC_000008.10:g.(?_68105679)_(68105857_?)del
NC_000008.11:g.(?_67010715)_(67064496_?)dup
NC_000008.11:g.(?_67111972)_(67218138_?)dup
NC_000008.11:g.(?_67193464)_(67193602_?)del
NC_000008.11:g.67195383TGA[3] rs772729206
NC_000014.8:g.(?_58894347)_(58894375_?)del
NC_000014.8:g.(?_58894347)_(58899195_?)dup
NC_000014.8:g.(?_58894347)_(59014694_?)dup
NC_000014.8:g.(?_58910652)_(58910913_?)del
NC_000014.8:g.(?_59010581)_(59014694_?)dup
NC_000016.9:g.(?_75573892)_(75574092_?)del
NC_000016.9:g.(?_75573892)_(75579872_?)dup
NC_000016.9:g.(?_75579704)_(75590169_?)dup
NC_000016.9:g.(?_75589682)_(75690509_?)dup
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)
NM_001044385.3(TMEM237):c.1078G>C (p.Val360Leu) rs1957756642
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu) rs138509553
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala) rs1957756375
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)
NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)
NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)
NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn) rs1362249907
NM_001044385.3(TMEM237):c.1159+3A>G rs754717992
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) rs763176756
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser) rs1957737864
NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1]) rs765428296
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs) rs761770686
NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)
NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser) rs1376540567
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu) rs562984785
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)
NM_001044385.3(TMEM237):c.165G>T (p.Gln55His) rs768568104
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) rs999613520
NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala)
NM_001044385.3(TMEM237):c.205A>T (p.Thr69Ser) rs376226585
NM_001044385.3(TMEM237):c.214C>G (p.Leu72Val) rs1369476710
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr) rs367728637
NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln) rs778373105
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln) rs2105906100
NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn)
NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala)
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile) rs1324625933
NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn)
NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu)
NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly)
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn) rs1687222402
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys) rs1319201699
NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln)
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) rs1553660992
NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr)
NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)
NM_001044385.3(TMEM237):c.355G>A (p.Ala119Thr) rs2105900828
NM_001044385.3(TMEM237):c.42+6C>T
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr) rs2105900282
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)
NM_001044385.3(TMEM237):c.478G>A (p.Val160Met) rs2105900253
NM_001044385.3(TMEM237):c.505C>T (p.Pro169Ser) rs772074875
NM_001044385.3(TMEM237):c.553+2dup rs1957812399
NM_001044385.3(TMEM237):c.553+3dup rs1957812369
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)
NM_001044385.3(TMEM237):c.586A>T (p.Ile196Leu) rs1202199961
NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg)
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile) rs767769973
NM_001044385.3(TMEM237):c.655C>T (p.Leu219Phe) rs2105899190
NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu) rs769861092
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg) rs1163877651
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser) rs763431945
NM_001044385.3(TMEM237):c.74+12_74+14del
NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys) rs2105898977
NM_001044385.3(TMEM237):c.775T>C (p.Ser259Pro) rs992818026
NM_001044385.3(TMEM237):c.79+5G>C
NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala)
NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile) rs1015591586
NM_001044385.3(TMEM237):c.854T>C (p.Ile285Thr) rs1343901400
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)
NM_001044385.3(TMEM237):c.870-8T>G rs2105898458
NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe)
NM_001044385.3(TMEM237):c.920A>G (p.Asp307Gly) rs2105898418
NM_001044385.3(TMEM237):c.926C>G (p.Thr309Arg) rs1380123430
NM_001044385.3(TMEM237):c.934G>C (p.Ala312Pro) rs2105898403
NM_001044385.3(TMEM237):c.944T>G (p.Leu315Trp) rs1043186259
NM_001044385.3(TMEM237):c.964C>G (p.Leu322Val) rs2105898068
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg) rs1957768968
NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val)
NM_001044385.3(TMEM237):c.986C>G (p.Thr329Arg) rs1057148787
NM_001077418.2(TMEM231):c.-53A>G rs1176007249
NM_001077418.2(TMEM231):c.-55C>T rs2151711350
NM_001077418.2(TMEM231):c.-59G>A
NM_001077418.2(TMEM231):c.-61T>G
NM_001077418.3(TMEM231):c.-16C>A
NM_001077418.3(TMEM231):c.-17G>T rs768513169
NM_001077418.3(TMEM231):c.-22G>C
NM_001077418.3(TMEM231):c.-25C>T
NM_001077418.3(TMEM231):c.-38T>C rs758946916
NM_001077418.3(TMEM231):c.-41A>C rs765256905
NM_001077418.3(TMEM231):c.-8C>T rs780752063
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
NM_001077418.3(TMEM231):c.139+14G>A
NM_001077418.3(TMEM231):c.139+28G>A rs370005084
NM_001077418.3(TMEM231):c.139+44G>T
NM_001077418.3(TMEM231):c.140-10T>C rs2151710900
NM_001077418.3(TMEM231):c.140-39G>A
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu) rs2151710882
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys) rs772102451
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp) rs1350319069
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val) rs2151710764
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val) rs2080804915
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn) rs753709447
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile) rs2151710524
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.310-18C>T
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly) rs1415195367
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg) rs1202833405
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
NM_001077418.3(TMEM231):c.438+3G>A rs1183368030
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg) rs2080678228
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu) rs549400559
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe) rs1280264089
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu) rs2151702535
NM_001077418.3(TMEM231):c.583-3C>G
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg) rs2080639506
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu) rs397514753
NM_001077418.3(TMEM231):c.665-19_665-13del
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val) rs1567441268
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr) rs139236786
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu) rs1277858041
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) rs1295551040
NM_001077418.3(TMEM231):c.770+3A>G rs2080625882
NM_001077418.3(TMEM231):c.770+6C>G
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His) rs758048238
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu) rs2151697774
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys) rs797044954
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=) rs2080604225
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr) rs2151697600
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
NM_001244189.2(KIAA0586):c.9+4A>C rs1029046238
NM_001244189.2(KIAA0586):c.9+5G>C
NM_001329943.3(KIAA0586):c.*3G>A rs748083468
NM_001329943.3(KIAA0586):c.-20C>T
NM_001329943.3(KIAA0586):c.-28G>A
NM_001329943.3(KIAA0586):c.-2A>G
NM_001329943.3(KIAA0586):c.-33C>G rs1246692312
NM_001329943.3(KIAA0586):c.-4C>G
NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile) rs186659284
NM_001329943.3(KIAA0586):c.1030C>T (p.Arg344Cys)
NM_001329943.3(KIAA0586):c.1088T>C (p.Leu363Pro)
NM_001329943.3(KIAA0586):c.1096G>A (p.Glu366Lys)
NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln)
NM_001329943.3(KIAA0586):c.1129+6A>C
NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu)
NM_001329943.3(KIAA0586):c.1133A>G (p.Asn378Ser)
NM_001329943.3(KIAA0586):c.1133A>T (p.Asn378Ile)
NM_001329943.3(KIAA0586):c.1152A>C (p.Gln384His) rs963677243
NM_001329943.3(KIAA0586):c.1163A>G (p.Asn388Ser)
NM_001329943.3(KIAA0586):c.1172C>G (p.Ser391Cys) rs2039563292
NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp) rs190089844
NM_001329943.3(KIAA0586):c.1182A>C (p.Arg394Ser)
NM_001329943.3(KIAA0586):c.1187G>A (p.Ser396Asn) rs1349839476
NM_001329943.3(KIAA0586):c.1189G>A (p.Glu397Lys)
NM_001329943.3(KIAA0586):c.1196C>T (p.Ser399Leu) rs2140763302
NM_001329943.3(KIAA0586):c.1225A>G (p.Ile409Val)
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) rs548318176
NM_001329943.3(KIAA0586):c.1254-19A>T rs2140825179
NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr)
NM_001329943.3(KIAA0586):c.1273C>G (p.Leu425Val)
NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile)
NM_001329943.3(KIAA0586):c.1369G>C (p.Glu457Gln) rs2140843404
NM_001329943.3(KIAA0586):c.1373C>A (p.Ser458Tyr)
NM_001329943.3(KIAA0586):c.1405C>A (p.Gln469Lys) rs1323358756
NM_001329943.3(KIAA0586):c.1409A>G (p.Asn470Ser) rs1245858530
NM_001329943.3(KIAA0586):c.1424A>T (p.Gln475Leu)
NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe) rs761150154
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=)
NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe) rs369211190
NM_001329943.3(KIAA0586):c.1447G>A (p.Val483Ile)
NM_001329943.3(KIAA0586):c.1459G>T (p.Ala487Ser)
NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg) rs2040004897
NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser)
NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe)
NM_001329943.3(KIAA0586):c.1508A>G (p.Glu503Gly)
NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys)
NM_001329943.3(KIAA0586):c.1513C>G (p.Leu505Val)
NM_001329943.3(KIAA0586):c.1538A>G (p.Asp513Gly)
NM_001329943.3(KIAA0586):c.1573T>C (p.Ser525Pro)
NM_001329943.3(KIAA0586):c.1576A>T (p.Thr526Ser)
NM_001329943.3(KIAA0586):c.1631T>G (p.Ile544Ser) rs2140854100
NM_001329943.3(KIAA0586):c.1651A>G (p.Ile551Val)
NM_001329943.3(KIAA0586):c.1667C>T (p.Ser556Leu)
NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu)
NM_001329943.3(KIAA0586):c.1745T>G (p.Ile582Ser)
NM_001329943.3(KIAA0586):c.1775A>G (p.Asn592Ser) rs2140874422
NM_001329943.3(KIAA0586):c.1799A>C (p.His600Pro)
NM_001329943.3(KIAA0586):c.1799A>G (p.His600Arg) rs780461594
NM_001329943.3(KIAA0586):c.1810C>G (p.Gln604Glu)
NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala)
NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)
NM_001329943.3(KIAA0586):c.1870A>G (p.Lys624Glu)
NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu) rs940229482
NM_001329943.3(KIAA0586):c.1903A>G (p.Thr635Ala)
NM_001329943.3(KIAA0586):c.1916A>G (p.Asp639Gly) rs1210187670
NM_001329943.3(KIAA0586):c.1932A>T (p.Leu644Phe) rs2140886222
NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro) rs1473572852
NM_001329943.3(KIAA0586):c.1964A>G (p.His655Arg) rs769913250
NM_001329943.3(KIAA0586):c.1999T>C (p.Phe667Leu)
NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser) rs2140375856
NM_001329943.3(KIAA0586):c.2002A>T (p.Asn668Tyr)
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)
NM_001329943.3(KIAA0586):c.2017A>G (p.Lys673Glu)
NM_001329943.3(KIAA0586):c.2024G>A (p.Arg675Lys)
NM_001329943.3(KIAA0586):c.2041G>C (p.Val681Leu)
NM_001329943.3(KIAA0586):c.2044A>T (p.Ile682Leu) rs751924115
NM_001329943.3(KIAA0586):c.2059G>T (p.Gly687Cys)
NM_001329943.3(KIAA0586):c.2060G>T (p.Gly687Val)
NM_001329943.3(KIAA0586):c.2062A>G (p.Thr688Ala) rs2140939104
NM_001329943.3(KIAA0586):c.2063C>A (p.Thr688Asn) rs1868384082
NM_001329943.3(KIAA0586):c.2105C>T (p.Thr702Ile)
NM_001329943.3(KIAA0586):c.2131A>G (p.Met711Val)
NM_001329943.3(KIAA0586):c.213_270+11dup
NM_001329943.3(KIAA0586):c.2141C>G (p.Ser714Cys) rs2140939862
NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser)
NM_001329943.3(KIAA0586):c.2158C>T (p.His720Tyr) rs757373300
NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn)
NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn)
NM_001329943.3(KIAA0586):c.2164G>T (p.Asp722Tyr) rs750671663
NM_001329943.3(KIAA0586):c.2185C>T (p.Pro729Ser) rs2140940326
NM_001329943.3(KIAA0586):c.2203A>G (p.Thr735Ala) rs1489902309
NM_001329943.3(KIAA0586):c.2207T>A (p.Phe736Tyr)
NM_001329943.3(KIAA0586):c.2213G>T (p.Gly738Val)
NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val)
NM_001329943.3(KIAA0586):c.2255-3T>C rs2140956887
NM_001329943.3(KIAA0586):c.2260A>T (p.Thr754Ser)
NM_001329943.3(KIAA0586):c.2270A>G (p.Asn757Ser)
NM_001329943.3(KIAA0586):c.2320G>A (p.Val774Ile)
NM_001329943.3(KIAA0586):c.2324C>A (p.Thr775Asn) rs2140957750
NM_001329943.3(KIAA0586):c.2348C>T (p.Ser783Leu)
NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys)
NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser)
NM_001329943.3(KIAA0586):c.2388A>G (p.Ile796Met)
NM_001329943.3(KIAA0586):c.2411A>G (p.Glu804Gly) rs1302610013
NM_001329943.3(KIAA0586):c.2411A>T (p.Glu804Val) rs1302610013
NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu)
NM_001329943.3(KIAA0586):c.241C>G (p.Leu81Val) rs2140391234
NM_001329943.3(KIAA0586):c.2426C>T (p.Pro809Leu)
NM_001329943.3(KIAA0586):c.2435C>A (p.Thr812Asn)
NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met)
NM_001329943.3(KIAA0586):c.2449C>G (p.Pro817Ala)
NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val)
NM_001329943.3(KIAA0586):c.2462T>C (p.Ile821Thr) rs1320727649
NM_001329943.3(KIAA0586):c.2465A>G (p.Asp822Gly)
NM_001329943.3(KIAA0586):c.2469C>A (p.Ser823Arg)
NM_001329943.3(KIAA0586):c.2469_2483del (p.Ile824_Ser828del) rs750244824
NM_001329943.3(KIAA0586):c.2476A>C (p.Asn826His) rs763982126
NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp)
NM_001329943.3(KIAA0586):c.2480G>A (p.Ser827Asn)
NM_001329943.3(KIAA0586):c.2486C>A (p.Ala829Asp)
NM_001329943.3(KIAA0586):c.2486C>T (p.Ala829Val) rs200219991
NM_001329943.3(KIAA0586):c.2521G>A (p.Ala841Thr) rs2140987094
NM_001329943.3(KIAA0586):c.2525C>T (p.Ser842Phe) rs749680733
NM_001329943.3(KIAA0586):c.253C>T (p.Pro85Ser)
NM_001329943.3(KIAA0586):c.2553+6T>C
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=) rs1024217852
NM_001329943.3(KIAA0586):c.2553G>T (p.Lys851Asn)
NM_001329943.3(KIAA0586):c.2554-14A>G
NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser)
NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg) rs74055693
NM_001329943.3(KIAA0586):c.2617A>G (p.Ile873Val) rs2041278053
NM_001329943.3(KIAA0586):c.2622C>G (p.Ile874Met)
NM_001329943.3(KIAA0586):c.2624A>T (p.Asp875Val) rs868621645
NM_001329943.3(KIAA0586):c.2630T>C (p.Ile877Thr)
NM_001329943.3(KIAA0586):c.2634+10C>G
NM_001329943.3(KIAA0586):c.2634+5C>G
NM_001329943.3(KIAA0586):c.2650G>A (p.Asp884Asn)
NM_001329943.3(KIAA0586):c.2693G>A (p.Ser898Asn) rs760087214
NM_001329943.3(KIAA0586):c.269G>C (p.Ser90Thr) rs780403471
NM_001329943.3(KIAA0586):c.270+3A>G rs2140391500
NM_001329943.3(KIAA0586):c.270+7A>C
NM_001329943.3(KIAA0586):c.2708C>A (p.Ser903Tyr)
NM_001329943.3(KIAA0586):c.2717A>G (p.Tyr906Cys)
NM_001329943.3(KIAA0586):c.2723G>C (p.Gly908Ala) rs753434086
NM_001329943.3(KIAA0586):c.2729C>T (p.Pro910Leu)
NM_001329943.3(KIAA0586):c.272A>G (p.Asp91Gly)
NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala)
NM_001329943.3(KIAA0586):c.2756A>G (p.Gln919Arg) rs2141025129
NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala)
NM_001329943.3(KIAA0586):c.2786T>C (p.Ile929Thr)
NM_001329943.3(KIAA0586):c.2788_2802del (p.Glu930_Thr934del) rs2141025393
NM_001329943.3(KIAA0586):c.2822A>G (p.Gln941Arg)
NM_001329943.3(KIAA0586):c.2826-8C>A rs2141053167
NM_001329943.3(KIAA0586):c.2839A>G (p.Ile947Val)
NM_001329943.3(KIAA0586):c.2849G>T (p.Arg950Ile) rs2141053576
NM_001329943.3(KIAA0586):c.2860G>T (p.Gly954Trp)
NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr)
NM_001329943.3(KIAA0586):c.2890C>T (p.Pro964Ser)
NM_001329943.3(KIAA0586):c.2894G>T (p.Ser965Ile) rs1161690227
NM_001329943.3(KIAA0586):c.2924A>G (p.Glu975Gly) rs2141054763
NM_001329943.3(KIAA0586):c.2936C>T (p.Ser979Phe)
NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala)
NM_001329943.3(KIAA0586):c.2960G>A (p.Ser987Asn)
NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu)
NM_001329943.3(KIAA0586):c.2990G>T (p.Gly997Val)
NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys) rs2140372595
NM_001329943.3(KIAA0586):c.3037C>G (p.Leu1013Val)
NM_001329943.3(KIAA0586):c.3053C>A (p.Ala1018Asp) rs182274649
NM_001329943.3(KIAA0586):c.3058A>G (p.Met1020Val) rs767378597
NM_001329943.3(KIAA0586):c.3077C>T (p.Ala1026Val)
NM_001329943.3(KIAA0586):c.3089G>A (p.Gly1030Asp) rs2042116751
NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys) rs367811307
NM_001329943.3(KIAA0586):c.3144+3A>G rs956345090
NM_001329943.3(KIAA0586):c.3145-6_3145-2del
NM_001329943.3(KIAA0586):c.3149G>A (p.Arg1050Lys) rs1472123420
NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala)
NM_001329943.3(KIAA0586):c.3164T>C (p.Leu1055Pro) rs1453619075
NM_001329943.3(KIAA0586):c.3169_3171dup (p.Thr1057_Pro1058insThr)
NM_001329943.3(KIAA0586):c.3179C>G (p.Pro1060Arg)
NM_001329943.3(KIAA0586):c.3182C>T (p.Thr1061Met)
NM_001329943.3(KIAA0586):c.3185C>T (p.Pro1062Leu)
NM_001329943.3(KIAA0586):c.3190T>A (p.Cys1064Ser)
NM_001329943.3(KIAA0586):c.319G>A (p.Glu107Lys) rs2140404760
NM_001329943.3(KIAA0586):c.3206C>T (p.Pro1069Leu) rs2141182370
NM_001329943.3(KIAA0586):c.3226G>A (p.Val1076Ile)
NM_001329943.3(KIAA0586):c.3226G>T (p.Val1076Leu)
NM_001329943.3(KIAA0586):c.322G>A (p.Glu108Lys)
NM_001329943.3(KIAA0586):c.3232A>G (p.Thr1078Ala)
NM_001329943.3(KIAA0586):c.3238G>A (p.Asp1080Asn) rs2042507801
NM_001329943.3(KIAA0586):c.3250T>C (p.Cys1084Arg)
NM_001329943.3(KIAA0586):c.3266A>G (p.Asp1089Gly) rs187091758
NM_001329943.3(KIAA0586):c.3300A>T (p.Glu1100Asp)
NM_001329943.3(KIAA0586):c.3304+5A>C
NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg)
NM_001329943.3(KIAA0586):c.3305-3T>C
NM_001329943.3(KIAA0586):c.3307G>A (p.Asp1103Asn) rs2141192396
NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val)
NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr)
NM_001329943.3(KIAA0586):c.3338C>T (p.Thr1113Ile)
NM_001329943.3(KIAA0586):c.335A>G (p.Gln112Arg)
NM_001329943.3(KIAA0586):c.3362C>T (p.Thr1121Ile) rs2141193303
NM_001329943.3(KIAA0586):c.3366TCC[1] (p.Pro1124del) rs770153870
NM_001329943.3(KIAA0586):c.3371C>T (p.Pro1124Leu)
NM_001329943.3(KIAA0586):c.3373G>A (p.Ala1125Thr) rs2141193523
NM_001329943.3(KIAA0586):c.3394A>G (p.Thr1132Ala)
NM_001329943.3(KIAA0586):c.3399G>T (p.Leu1133Phe) rs1409454378
NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn)
NM_001329943.3(KIAA0586):c.3405T>G (p.Asp1135Glu)
NM_001329943.3(KIAA0586):c.3415_3416delinsTG (p.Asp1139Cys) rs2141194171
NM_001329943.3(KIAA0586):c.3418A>G (p.Lys1140Glu)
NM_001329943.3(KIAA0586):c.3427G>T (p.Val1143Leu)
NM_001329943.3(KIAA0586):c.3433A>T (p.Ser1145Cys)
NM_001329943.3(KIAA0586):c.3437C>T (p.Pro1146Leu) rs2042587558
NM_001329943.3(KIAA0586):c.344A>C (p.Asn115Thr)
NM_001329943.3(KIAA0586):c.3451C>A (p.Pro1151Thr) rs2141194729
NM_001329943.3(KIAA0586):c.3458G>T (p.Gly1153Val) rs2141194889
NM_001329943.3(KIAA0586):c.345T>A (p.Asn115Lys) rs778492541
NM_001329943.3(KIAA0586):c.3461A>T (p.Asp1154Val)
NM_001329943.3(KIAA0586):c.3479A>C (p.Glu1160Ala)
NM_001329943.3(KIAA0586):c.3490C>T (p.Pro1164Ser)
NM_001329943.3(KIAA0586):c.3500C>T (p.Pro1167Leu)
NM_001329943.3(KIAA0586):c.3505GAA[1] (p.Glu1170del) rs778377845
NM_001329943.3(KIAA0586):c.3510A>T (p.Glu1170Asp)
NM_001329943.3(KIAA0586):c.3518C>G (p.Pro1173Arg) rs2141195740
NM_001329943.3(KIAA0586):c.3544A>G (p.Lys1182Glu)
NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys)
NM_001329943.3(KIAA0586):c.3566T>C (p.Met1189Thr)
NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser)
NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser)
NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala)
NM_001329943.3(KIAA0586):c.3620C>T (p.Pro1207Leu) rs750251144
NM_001329943.3(KIAA0586):c.362A>T (p.Gln121Leu)
NM_001329943.3(KIAA0586):c.3631A>C (p.Lys1211Gln) rs754567597
NM_001329943.3(KIAA0586):c.3633G>C (p.Lys1211Asn) rs780785984
NM_001329943.3(KIAA0586):c.363G>T (p.Gln121His) rs368352741
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) rs746136288
NM_001329943.3(KIAA0586):c.3670T>G (p.Ser1224Ala) rs1292752792
NM_001329943.3(KIAA0586):c.3673A>G (p.Thr1225Ala)
NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser) rs183240083
NM_001329943.3(KIAA0586):c.3685A>C (p.Thr1229Pro)
NM_001329943.3(KIAA0586):c.368C>A (p.Thr123Lys) rs2140422825
NM_001329943.3(KIAA0586):c.3704C>T (p.Thr1235Ile)
NM_001329943.3(KIAA0586):c.370A>G (p.Met124Val) rs2037453984
NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile)
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) rs1595348112
NM_001329943.3(KIAA0586):c.374G>A (p.Gly125Glu)
NM_001329943.3(KIAA0586):c.3780G>A (p.Lys1260=)
NM_001329943.3(KIAA0586):c.3794T>C (p.Ile1265Thr) rs756960694
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) rs1425457941
NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala)
NM_001329943.3(KIAA0586):c.3820_3822del (p.Asp1274del) rs1399193101
NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly)
NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr) rs748648408
NM_001329943.3(KIAA0586):c.3843T>A (p.His1281Gln)
NM_001329943.3(KIAA0586):c.3850G>A (p.Val1284Ile)
NM_001329943.3(KIAA0586):c.3858+4A>G rs2042748796
NM_001329943.3(KIAA0586):c.3868_3869delinsGT (p.Pro1290Val)
NM_001329943.3(KIAA0586):c.3871C>T (p.Pro1291Ser)
NM_001329943.3(KIAA0586):c.3883C>G (p.Gln1295Glu) rs2141237535
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=) rs779179754
NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met)
NM_001329943.3(KIAA0586):c.3896T>C (p.Met1299Thr)
NM_001329943.3(KIAA0586):c.3917C>T (p.Ala1306Val) rs1369311999
NM_001329943.3(KIAA0586):c.3940A>C (p.Lys1314Gln) rs1270703288
NM_001329943.3(KIAA0586):c.3940A>G (p.Lys1314Glu)
NM_001329943.3(KIAA0586):c.3968A>G (p.Gln1323Arg)
NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=)
NM_001329943.3(KIAA0586):c.3997G>A (p.Glu1333Lys)
NM_001329943.3(KIAA0586):c.4001A>G (p.Asn1334Ser)
NM_001329943.3(KIAA0586):c.4028A>G (p.Gln1343Arg)
NM_001329943.3(KIAA0586):c.4033C>A (p.Pro1345Thr)
NM_001329943.3(KIAA0586):c.4048G>A (p.Ala1350Thr)
NM_001329943.3(KIAA0586):c.4049C>A (p.Ala1350Glu)
NM_001329943.3(KIAA0586):c.4054G>A (p.Glu1352Lys)
NM_001329943.3(KIAA0586):c.4073A>G (p.His1358Arg) rs1260148388
NM_001329943.3(KIAA0586):c.4089G>C (p.Gln1363His) rs2043350107
NM_001329943.3(KIAA0586):c.4096G>A (p.Val1366Ile) rs2043350903
NM_001329943.3(KIAA0586):c.410+3A>G
NM_001329943.3(KIAA0586):c.411-1364A>G
NM_001329943.3(KIAA0586):c.411-1381C>T rs749413114
NM_001329943.3(KIAA0586):c.411-1404G>A
NM_001329943.3(KIAA0586):c.411-1405T>C
NM_001329943.3(KIAA0586):c.411-1409C>T rs2140521828
NM_001329943.3(KIAA0586):c.411-1427A>G
NM_001329943.3(KIAA0586):c.411-1431C>G
NM_001329943.3(KIAA0586):c.411-1448G>A
NM_001329943.3(KIAA0586):c.411-1494C>A
NM_001329943.3(KIAA0586):c.4111T>A (p.Ser1371Thr)
NM_001329943.3(KIAA0586):c.4148G>A (p.Arg1383Gln)
NM_001329943.3(KIAA0586):c.4156G>T (p.Asp1386Tyr) rs2141310739
NM_001329943.3(KIAA0586):c.4168+5A>G
NM_001329943.3(KIAA0586):c.4168+6C>T
NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln)
NM_001329943.3(KIAA0586):c.421A>G (p.Met141Val) rs1164983892
NM_001329943.3(KIAA0586):c.4226A>G (p.Glu1409Gly) rs2141430559
NM_001329943.3(KIAA0586):c.4227G>T (p.Glu1409Asp) rs746899731
NM_001329943.3(KIAA0586):c.4231G>A (p.Glu1411Lys)
NM_001329943.3(KIAA0586):c.4241C>T (p.Ser1414Phe)
NM_001329943.3(KIAA0586):c.4249G>A (p.Val1417Ile) rs1356513118
NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly) rs548063080
NM_001329943.3(KIAA0586):c.4306G>A (p.Ala1436Thr)
NM_001329943.3(KIAA0586):c.4316T>C (p.Phe1439Ser) rs2141431422
NM_001329943.3(KIAA0586):c.4323+3A>G
NM_001329943.3(KIAA0586):c.4323+4C>T rs2044176022
NM_001329943.3(KIAA0586):c.4323+5C>G rs2141431529
NM_001329943.3(KIAA0586):c.4324-4T>G rs1429230924
NM_001329943.3(KIAA0586):c.4345G>T (p.Asp1449Tyr)
NM_001329943.3(KIAA0586):c.4346A>T (p.Asp1449Val) rs2141479700
NM_001329943.3(KIAA0586):c.4352A>G (p.Lys1451Arg)
NM_001329943.3(KIAA0586):c.4363_4364delinsAT (p.His1455Ile) rs2141479904
NM_001329943.3(KIAA0586):c.4365C>G (p.His1455Gln) rs1051498929
NM_001329943.3(KIAA0586):c.4399A>C (p.Lys1467Gln)
NM_001329943.3(KIAA0586):c.4429+4A>G rs1017273332
NM_001329943.3(KIAA0586):c.4435C>T (p.Pro1479Ser)
NM_001329943.3(KIAA0586):c.4444A>G (p.Met1482Val)
NM_001329943.3(KIAA0586):c.4446G>A (p.Met1482Ile)
NM_001329943.3(KIAA0586):c.444G>T (p.Lys148Asn)
NM_001329943.3(KIAA0586):c.4458A>T (p.Gln1486His) rs2140098041
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) rs370303493
NM_001329943.3(KIAA0586):c.4492T>A (p.Ser1498Thr)
NM_001329943.3(KIAA0586):c.4495+3762T>C
NM_001329943.3(KIAA0586):c.4495+3779A>G rs968172462
NM_001329943.3(KIAA0586):c.4495+3779A>T rs968172462
NM_001329943.3(KIAA0586):c.4495+3795_4495+3796inv
NM_001329943.3(KIAA0586):c.4495+3797T>C
NM_001329943.3(KIAA0586):c.4495+4A>G
NM_001329943.3(KIAA0586):c.4495+6A>G
NM_001329943.3(KIAA0586):c.4496-3814G>A rs2140128786
NM_001329943.3(KIAA0586):c.4496G>T (p.Gly1499Val)
NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)
NM_001329943.3(KIAA0586):c.4515C>G (p.Leu1505=) rs2140156234
NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=)
NM_001329943.3(KIAA0586):c.4524A>G (p.Ser1508=)
NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu)
NM_001329943.3(KIAA0586):c.4531C>A (p.Pro1511Thr) rs2140156359
NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)
NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu)
NM_001329943.3(KIAA0586):c.4564G>T (p.Val1522Leu) rs542432352
NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His) rs2140156856
NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter)
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=) rs2140157005
NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=)
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=) rs1301341396
NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs)
NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu)
NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)
NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu) rs1202184988
NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val)
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser)
NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu)
NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu) rs748340175
NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT
NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu)
NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly) rs2038635110
NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val)
NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln)
NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)
NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser) rs2140373651
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys) rs202124602
NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu) rs1373940232
NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr)
NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg)
NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln) rs774888789
NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met) rs2140567428
NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)
NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del) rs1290912165
NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His) rs2140568101
NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)
NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr) rs1417240682
NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys) rs2039078597
NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)
NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu) rs769369839
NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro)
NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr) rs2039080763
NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu)
NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn)
NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu) rs2140662489
NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)
NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys)
NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)
NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe)
NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly) rs2140663692
NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe) rs2140664162
NM_001329943.3(KIAA0586):c.961+6_961+7del rs1308763926
NM_001329943.3(KIAA0586):c.962-3A>C
NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile) rs1317366636
NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val) rs780810159
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=) rs764952763
NM_001382391.1(CSPP1):c.-104A>G
NM_001382391.1(CSPP1):c.-104A>T rs1805077545
NM_001382391.1(CSPP1):c.-108C>T rs2129538420
NM_001382391.1(CSPP1):c.-125C>A
NM_001382391.1(CSPP1):c.-128C>T rs775895663
NM_001382391.1(CSPP1):c.-138C>A rs373705126
NM_001382391.1(CSPP1):c.-138C>T
NM_001382391.1(CSPP1):c.-142C>A rs1023702149
NM_001382391.1(CSPP1):c.-143T>A rs1164437313
NM_001382391.1(CSPP1):c.-147C>G
NM_001382391.1(CSPP1):c.-149T>A rs768356971
NM_001382391.1(CSPP1):c.-149T>G
NM_001382391.1(CSPP1):c.-150A>T
NM_001382391.1(CSPP1):c.-47A>G
NM_001382391.1(CSPP1):c.-57C>G
NM_001382391.1(CSPP1):c.-66G>A rs2129538438
NM_001382391.1(CSPP1):c.-68G>A rs2129538437
NM_001382391.1(CSPP1):c.-68G>C
NM_001382391.1(CSPP1):c.-74G>A
NM_001382391.1(CSPP1):c.-80C>G rs745897839
NM_001382391.1(CSPP1):c.-90C>T
NM_001382391.1(CSPP1):c.-96C>G rs751458139
NM_001382391.1(CSPP1):c.1022G>A (p.Ser341Asn)
NM_001382391.1(CSPP1):c.1023-3T>C
NM_001382391.1(CSPP1):c.1024G>T (p.Ala342Ser)
NM_001382391.1(CSPP1):c.1027C>T (p.Pro343Ser)
NM_001382391.1(CSPP1):c.1030G>T (p.Asp344Tyr) rs2129547771
NM_001382391.1(CSPP1):c.1045A>G (p.Lys349Glu)
NM_001382391.1(CSPP1):c.1051G>A (p.Ala351Thr)
NM_001382391.1(CSPP1):c.1056T>A (p.Asn352Lys) rs1815423493
NM_001382391.1(CSPP1):c.1066T>C (p.Cys356Arg)
NM_001382391.1(CSPP1):c.1078G>T (p.Ala360Ser)
NM_001382391.1(CSPP1):c.108G>T (p.Leu36Phe) rs1807945498
NM_001382391.1(CSPP1):c.1093+3A>G rs1815432822
NM_001382391.1(CSPP1):c.1100A>G (p.Glu367Gly) rs2129549763
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=) rs768714635
NM_001382391.1(CSPP1):c.1102G>A (p.Asp368Asn)
NM_001382391.1(CSPP1):c.1111C>T (p.Leu371Phe)
NM_001382391.1(CSPP1):c.1124G>A (p.Arg375Lys) rs748162424
NM_001382391.1(CSPP1):c.1138A>G (p.Arg380Gly) rs1816951976
NM_001382391.1(CSPP1):c.1172A>G (p.Gln391Arg)
NM_001382391.1(CSPP1):c.1187G>C (p.Arg396Pro) rs760205035
NM_001382391.1(CSPP1):c.1188-3T>C
NM_001382391.1(CSPP1):c.1196A>G (p.Asp399Gly)
NM_001382391.1(CSPP1):c.1198T>G (p.Leu400Val) rs2129550393
NM_001382391.1(CSPP1):c.1209G>C (p.Arg403Ser)
NM_001382391.1(CSPP1):c.1209G>T (p.Arg403Ser) rs370123119
NM_001382391.1(CSPP1):c.1210G>T (p.Val404Phe)
NM_001382391.1(CSPP1):c.1234C>T (p.Pro412Ser) rs201880658
NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=)
NM_001382391.1(CSPP1):c.1291G>A (p.Asp431Asn)
NM_001382391.1(CSPP1):c.1298T>G (p.Leu433Arg)
NM_001382391.1(CSPP1):c.1313T>C (p.Val438Ala) rs2129550845
NM_001382391.1(CSPP1):c.1336A>G (p.Met446Val) rs2129550849
NM_001382391.1(CSPP1):c.1342C>T (p.Pro448Ser) rs2129550850
NM_001382391.1(CSPP1):c.1384C>T (p.Pro462Ser)
NM_001382391.1(CSPP1):c.1399T>C (p.Ser467Pro) rs747312980
NM_001382391.1(CSPP1):c.1402G>C (p.Val468Leu) rs376880257
NM_001382391.1(CSPP1):c.1406C>T (p.Pro469Leu)
NM_001382391.1(CSPP1):c.1424A>G (p.His475Arg) rs2129550870
NM_001382391.1(CSPP1):c.1425T>G (p.His475Gln)
NM_001382391.1(CSPP1):c.1454G>T (p.Arg485Leu) rs767353646
NM_001382391.1(CSPP1):c.1456A>G (p.Ser486Gly)
NM_001382391.1(CSPP1):c.1457G>A (p.Ser486Asn)
NM_001382391.1(CSPP1):c.1472C>A (p.Ala491Asp) rs2129550877
NM_001382391.1(CSPP1):c.1498A>T (p.Ile500Phe)
NM_001382391.1(CSPP1):c.1504C>T (p.Pro502Ser)
NM_001382391.1(CSPP1):c.1541C>A (p.Thr514Asn)
NM_001382391.1(CSPP1):c.1556C>A (p.Pro519His)
NM_001382391.1(CSPP1):c.1567G>T (p.Ala523Ser)
NM_001382391.1(CSPP1):c.1571A>T (p.Tyr524Phe) rs1818329945
NM_001382391.1(CSPP1):c.1574A>G (p.Tyr525Cys) rs2129551362
NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile) rs2129551363
NM_001382391.1(CSPP1):c.1600G>T (p.Asp534Tyr)
NM_001382391.1(CSPP1):c.1612G>T (p.Ala538Ser)
NM_001382391.1(CSPP1):c.1616A>G (p.Tyr539Cys) rs766545455
NM_001382391.1(CSPP1):c.1639G>C (p.Val547Leu) rs772097768
NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro) rs369723292
NM_001382391.1(CSPP1):c.1643A>G (p.Gln548Arg) rs369723292
NM_001382391.1(CSPP1):c.1648G>A (p.Ala550Thr) rs1028530380
NM_001382391.1(CSPP1):c.1661G>A (p.Ser554Asn) rs2129551469
NM_001382391.1(CSPP1):c.166C>T (p.Pro56Ser)
NM_001382391.1(CSPP1):c.1691C>G (p.Pro564Arg)
NM_001382391.1(CSPP1):c.1691C>T (p.Pro564Leu) rs2129551479
NM_001382391.1(CSPP1):c.169C>T (p.Pro57Ser)
NM_001382391.1(CSPP1):c.1703C>A (p.Thr568Lys) rs375847469
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg) rs2129554180
NM_001382391.1(CSPP1):c.1724A>G (p.Lys575Arg)
NM_001382391.1(CSPP1):c.1728T>G (p.Ile576Met) rs2129554181
NM_001382391.1(CSPP1):c.1767_1769del (p.Glu589del) rs1821332797
NM_001382391.1(CSPP1):c.1771A>C (p.Lys591Gln)
NM_001382391.1(CSPP1):c.1775C>T (p.Pro592Leu)
NM_001382391.1(CSPP1):c.1780C>T (p.Pro594Ser)
NM_001382391.1(CSPP1):c.1784C>A (p.Ser595Tyr)
NM_001382391.1(CSPP1):c.1801T>C (p.Ser601Pro)
NM_001382391.1(CSPP1):c.1827G>A (p.Gln609=)
NM_001382391.1(CSPP1):c.1832G>A (p.Arg611Gln) rs771386855
NM_001382391.1(CSPP1):c.1850G>A (p.Arg617Lys)
NM_001382391.1(CSPP1):c.1867G>A (p.Glu623Lys)
NM_001382391.1(CSPP1):c.1873G>A (p.Glu625Lys) rs2129555264
NM_001382391.1(CSPP1):c.187A>G (p.Arg63Gly) rs767674652
NM_001382391.1(CSPP1):c.188G>C (p.Arg63Thr) rs752873157
NM_001382391.1(CSPP1):c.1897G>C (p.Ala633Pro) rs2129555267
NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu) rs2129541315
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp) rs1807963359
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn) rs1822601037
NM_001382391.1(CSPP1):c.1937G>A (p.Gly646Asp) rs923561338
NM_001382391.1(CSPP1):c.1942G>A (p.Ala648Thr)
NM_001382391.1(CSPP1):c.1958C>T (p.Ala653Val)
NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu)
NM_001382391.1(CSPP1):c.1967A>G (p.Asn656Ser) rs1822608915
NM_001382391.1(CSPP1):c.1969C>G (p.Leu657Val)
NM_001382391.1(CSPP1):c.1972A>G (p.Ile658Val) rs2129555283
NM_001382391.1(CSPP1):c.1975+5G>A
NM_001382391.1(CSPP1):c.1975+6T>C
NM_001382391.1(CSPP1):c.1991T>C (p.Met664Thr)
NM_001382391.1(CSPP1):c.2036C>G (p.Thr679Arg) rs766230896
NM_001382391.1(CSPP1):c.2048A>C (p.Lys683Thr) rs1226391179
NM_001382391.1(CSPP1):c.2056G>C (p.Val686Leu) rs761009916
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu) rs764240953
NM_001382391.1(CSPP1):c.2062T>C (p.Ser688Pro)
NM_001382391.1(CSPP1):c.2066T>C (p.Leu689Pro) rs2129558004
NM_001382391.1(CSPP1):c.206A>G (p.Asp69Gly)
NM_001382391.1(CSPP1):c.2099A>G (p.Asn700Ser) rs2129558011
NM_001382391.1(CSPP1):c.2114C>A (p.Ala705Glu) rs1825359470
NM_001382391.1(CSPP1):c.2122A>C (p.Ser708Arg)
NM_001382391.1(CSPP1):c.2129-16A>G rs1826203961
NM_001382391.1(CSPP1):c.2129G>T (p.Gly710Val) rs780885390
NM_001382391.1(CSPP1):c.2136G>A (p.Met712Ile)
NM_001382391.1(CSPP1):c.2162G>T (p.Arg721Leu) rs201974031
NM_001382391.1(CSPP1):c.2174T>C (p.Phe725Ser) rs2129559050
NM_001382391.1(CSPP1):c.2183C>G (p.Pro728Arg)
NM_001382391.1(CSPP1):c.2188A>G (p.Thr730Ala)
NM_001382391.1(CSPP1):c.2194C>T (p.Leu732Phe) rs2129559060
NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn)
NM_001382391.1(CSPP1):c.2206C>A (p.Gln736Lys) rs2129559063
NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His)
NM_001382391.1(CSPP1):c.2226T>A (p.Asn742Lys) rs1826224959
NM_001382391.1(CSPP1):c.2234G>C (p.Arg745Pro) rs769971911
NM_001382391.1(CSPP1):c.2240A>T (p.Gln747Leu) rs2129559079
NM_001382391.1(CSPP1):c.2241+9C>G rs1826230466
NM_001382391.1(CSPP1):c.224C>T (p.Pro75Leu)
NM_001382391.1(CSPP1):c.2263G>A (p.Glu755Lys)
NM_001382391.1(CSPP1):c.2297A>G (p.Glu766Gly)
NM_001382391.1(CSPP1):c.2305GAA[1] (p.Glu770del) rs2129560139
NM_001382391.1(CSPP1):c.2315G>A (p.Arg772Gln)
NM_001382391.1(CSPP1):c.2323G>C (p.Glu775Gln)
NM_001382391.1(CSPP1):c.236A>T (p.Asp79Val)
NM_001382391.1(CSPP1):c.2370G>T (p.Lys790Asn)
NM_001382391.1(CSPP1):c.2377G>C (p.Glu793Gln)
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly) rs1827120184
NM_001382391.1(CSPP1):c.2391+3A>T rs1338097590
NM_001382391.1(CSPP1):c.2391+4C>T
NM_001382391.1(CSPP1):c.2398C>G (p.Leu800Val) rs2129560252
NM_001382391.1(CSPP1):c.2409_2411del (p.Glu804del) rs773946059
NM_001382391.1(CSPP1):c.2411A>C (p.Glu804Ala)
NM_001382391.1(CSPP1):c.2419C>G (p.Arg807Gly)
NM_001382391.1(CSPP1):c.2425G>A (p.Ala809Thr) rs1283124706
NM_001382391.1(CSPP1):c.2464GAA[3] (p.Glu825del) rs750079297
NM_001382391.1(CSPP1):c.2491C>T (p.Leu831Phe)
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr)
NM_001382391.1(CSPP1):c.2514C>G (p.Asp838Glu)
NM_001382391.1(CSPP1):c.251A>C (p.Lys84Thr)
NM_001382391.1(CSPP1):c.2525G>A (p.Gly842Glu) rs752478502
NM_001382391.1(CSPP1):c.2530G>A (p.Glu844Lys) rs909732603
NM_001382391.1(CSPP1):c.2530G>C (p.Glu844Gln)
NM_001382391.1(CSPP1):c.2533A>T (p.Thr845Ser) rs1484918109
NM_001382391.1(CSPP1):c.2539-18A>G
NM_001382391.1(CSPP1):c.2542A>G (p.Met848Val)
NM_001382391.1(CSPP1):c.2557_2559del (p.Pro853del) rs1828417560
NM_001382391.1(CSPP1):c.2563G>C (p.Val855Leu) rs1828419474
NM_001382391.1(CSPP1):c.2594A>G (p.Lys865Arg)
NM_001382391.1(CSPP1):c.2594A>T (p.Lys865Ile) rs1828425319
NM_001382391.1(CSPP1):c.259T>A (p.Leu87Ile) rs2129543528
NM_001382391.1(CSPP1):c.2600A>G (p.Gln867Arg)
NM_001382391.1(CSPP1):c.2633C>T (p.Ser878Phe) rs2129561809
NM_001382391.1(CSPP1):c.2641C>G (p.His881Asp) rs1828434498
NM_001382391.1(CSPP1):c.2643+4T>C
NM_001382391.1(CSPP1):c.2643+4T>G rs748730202
NM_001382391.1(CSPP1):c.2644-11T>G
NM_001382391.1(CSPP1):c.2644-14T>G rs2129562428
NM_001382391.1(CSPP1):c.2657C>T (p.Ser886Phe)
NM_001382391.1(CSPP1):c.2675C>G (p.Pro892Arg) rs779762140
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu)
NM_001382391.1(CSPP1):c.2686A>G (p.Arg896Gly) rs2129562479
NM_001382391.1(CSPP1):c.2687G>A (p.Arg896Lys)
NM_001382391.1(CSPP1):c.2692A>C (p.Asn898His) rs1828818248
NM_001382391.1(CSPP1):c.2701C>T (p.Arg901Cys) rs757750162
NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met) rs374300498
NM_001382391.1(CSPP1):c.2723A>G (p.Asn908Ser)
NM_001382391.1(CSPP1):c.2735A>G (p.Glu912Gly) rs1586651470
NM_001382391.1(CSPP1):c.2740T>C (p.Ser914Pro)
NM_001382391.1(CSPP1):c.2741C>T (p.Ser914Leu) rs779579881
NM_001382391.1(CSPP1):c.274C>T (p.Arg92Trp) rs367889164
NM_001382391.1(CSPP1):c.2753A>G (p.Lys918Arg)
NM_001382391.1(CSPP1):c.275G>A (p.Arg92Gln) rs764280843
NM_001382391.1(CSPP1):c.2761C>T (p.Arg921Cys) rs776600422
NM_001382391.1(CSPP1):c.2785G>C (p.Glu929Gln)
NM_001382391.1(CSPP1):c.2788C>G (p.Arg930Gly)
NM_001382391.1(CSPP1):c.280G>A (p.Asp94Asn) rs1182648944
NM_001382391.1(CSPP1):c.2810A>G (p.Asp937Gly)
NM_001382391.1(CSPP1):c.2812G>C (p.Asp938His) rs1402959828
NM_001382391.1(CSPP1):c.2821C>A (p.Pro941Thr)
NM_001382391.1(CSPP1):c.2821C>G (p.Pro941Ala)
NM_001382391.1(CSPP1):c.2824A>G (p.Ile942Val)
NM_001382391.1(CSPP1):c.2828+2C>T rs1828946939
NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr)
NM_001382391.1(CSPP1):c.2869A>G (p.Arg957Gly)
NM_001382391.1(CSPP1):c.2887C>G (p.Pro963Ala) rs770066826
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser) rs770066826
NM_001382391.1(CSPP1):c.2888C>T (p.Pro963Leu) rs781283590
NM_001382391.1(CSPP1):c.2906C>G (p.Pro969Arg) rs1480057271
NM_001382391.1(CSPP1):c.2939T>G (p.Val980Gly) rs1830675527
NM_001382391.1(CSPP1):c.2967A>G (p.Arg989=) rs2129567311
NM_001382391.1(CSPP1):c.2968+5G>A rs1057524684
NM_001382391.1(CSPP1):c.2968G>A (p.Asp990Asn) rs1830678644
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu) rs993509179
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile) rs750443075
NM_001382391.1(CSPP1):c.303+5T>C rs1332818013
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys) rs374717800
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu) rs374717800
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val) rs1831355993
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn)
NM_001382391.1(CSPP1):c.3109+4dup rs2129568589
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln)
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr)
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn)
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn)
NM_001382391.1(CSPP1):c.3220+7A>G
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln)
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn)
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly)
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr)
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr)
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser) rs774501418
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln)
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe) rs754193806
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) rs775362535
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala)
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del) rs749558548
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala)
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu)
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys)
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp) rs1837019445
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr) rs2129575962
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro)
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His)
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser) rs569956227
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu)
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg) rs2129575980
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs) rs760082779
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg)
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg)
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs) rs2129576630
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile) rs1414800888
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His) rs1837730212
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs) rs776145236
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala) rs1837735009
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu)
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs) rs1563816165
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu)
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile)
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs)
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys)
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His) rs1837760146
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg) rs1026132903
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter)
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys)
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg)
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs)
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro)
NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser)
NM_001382391.1(CSPP1):c.403C>T (p.Arg135Cys)
NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp)
NM_001382391.1(CSPP1):c.436A>G (p.Lys146Glu)
NM_001382391.1(CSPP1):c.448A>G (p.Ser150Gly) rs1554569071
NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val) rs150924296
NM_001382391.1(CSPP1):c.475A>G (p.Ser159Gly)
NM_001382391.1(CSPP1):c.483+6T>C
NM_001382391.1(CSPP1):c.508C>G (p.Pro170Ala) rs2129545447
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=) rs1308150996
NM_001382391.1(CSPP1):c.554C>G (p.Ser185Cys) rs1477078769
NM_001382391.1(CSPP1):c.572G>A (p.Gly191Asp) rs2129545466
NM_001382391.1(CSPP1):c.577A>G (p.Arg193Gly)
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln) rs1807446261
NM_001382391.1(CSPP1):c.632G>A (p.Arg211Gln) rs193231165
NM_001382391.1(CSPP1):c.635T>G (p.Leu212Arg)
NM_001382391.1(CSPP1):c.638A>G (p.Glu213Gly)
NM_001382391.1(CSPP1):c.663T>G (p.Asp221Glu)
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile)
NM_001382391.1(CSPP1):c.692T>C (p.Ile231Thr)
NM_001382391.1(CSPP1):c.719G>A (p.Gly240Asp)
NM_001382391.1(CSPP1):c.727A>C (p.Asn243His) rs777234205
NM_001382391.1(CSPP1):c.731T>G (p.Leu244Arg) rs2129545496
NM_001382391.1(CSPP1):c.745T>C (p.Phe249Leu)
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro) rs771943937
NM_001382391.1(CSPP1):c.761G>A (p.Gly254Asp) rs763959523
NM_001382391.1(CSPP1):c.767C>G (p.Pro256Arg) rs2129545507
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn) rs750608589
NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr) rs750608589
NM_001382391.1(CSPP1):c.796G>A (p.Asp266Asn)
NM_001382391.1(CSPP1):c.797A>G (p.Asp266Gly) rs1353287068
NM_001382391.1(CSPP1):c.803T>A (p.Val268Asp) rs1812585066
NM_001382391.1(CSPP1):c.809A>T (p.Asp270Val) rs1812585556
NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys)
NM_001382391.1(CSPP1):c.843A>C (p.Glu281Asp)
NM_001382391.1(CSPP1):c.844G>T (p.Val282Leu) rs1812594373
NM_001382391.1(CSPP1):c.870T>G (p.Phe290Leu) rs1812598635
NM_001382391.1(CSPP1):c.873A>C (p.Arg291Ser)
NM_001382391.1(CSPP1):c.881G>C (p.Ser294Thr) rs761539830
NM_001382391.1(CSPP1):c.896G>A (p.Arg299Lys) rs1339310127
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr) rs1807452107
NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala) rs1585833752
NM_001382391.1(CSPP1):c.923G>A (p.Arg308Lys) rs2129545557
NM_001382391.1(CSPP1):c.959T>C (p.Met320Thr)
NM_001382391.1(CSPP1):c.966_967delinsAA (p.His322_Asp323delinsGlnAsn)
NM_001382391.1(CSPP1):c.99+5A>G
NM_001382391.1(CSPP1):c.994A>G (p.Ile332Val) rs1479905045
NM_016464.5(TMEM138):c.129-19C>G rs2135157682
NM_016464.5(TMEM138):c.129-3C>T
NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly) rs1858060748
NM_016464.5(TMEM138):c.166A>G (p.Ile56Val)
NM_016464.5(TMEM138):c.176T>G (p.Met59Arg)
NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu) rs1858140604
NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)
NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln) rs2135158062
NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe) rs1858141854
NM_016464.5(TMEM138):c.227A>G (p.His76Arg) rs1411782602
NM_016464.5(TMEM138):c.230A>T (p.Lys77Met)
NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys) rs2135158354
NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)
NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu) rs2135163033
NM_016464.5(TMEM138):c.317A>T (p.Asn106Ile) rs932618021
NM_016464.5(TMEM138):c.322A>G (p.Asn108Asp)
NM_016464.5(TMEM138):c.359T>A (p.Phe120Tyr)
NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr) rs1350244778
NM_016464.5(TMEM138):c.377C>T (p.Ala126Val) rs1045760713
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016464.5(TMEM138):c.415G>A (p.Val139Ile) rs141029883
NM_016464.5(TMEM138):c.430_439del (p.Pro144fs)
NM_016464.5(TMEM138):c.431C>T (p.Pro144Leu) rs2135165565
NM_016464.5(TMEM138):c.448T>A (p.Ser150Thr)
NM_016464.5(TMEM138):c.449C>G (p.Ser150Cys)
NM_016464.5(TMEM138):c.451_452del (p.Leu151fs) rs890070939
NM_016464.5(TMEM138):c.454T>A (p.Trp152Arg)
NM_016464.5(TMEM138):c.460C>T (p.Arg154Cys)
NM_016464.5(TMEM138):c.481C>T (p.Arg161Ter) rs1000923142
NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys) rs1565076874
NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala)
NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser)
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp) rs1554416156
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr) rs184146463
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser) rs184146463
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp) rs2117546322
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro) rs781878740
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup) rs1796754986
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser) rs782211413
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu) rs1797355895
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg) rs1797203213
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
NM_018718.3(CEP41):c.226C>G (p.Leu76Val) rs1797171250
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys) rs1797171055
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro) rs946180222
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
NM_018718.3(CEP41):c.277G>C (p.Asp93His) rs1797169504
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys) rs2117574982
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr) rs149373377
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala) rs149373377
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn) rs150251054
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
NM_018718.3(CEP41):c.320C>T (p.Ala107Val) rs141025803
NM_018718.3(CEP41):c.33+6G>A rs1798137622
NM_018718.3(CEP41):c.33G>A (p.Glu11=) rs2117739865
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg) rs782235279
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr) rs782508627
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln) rs782614895
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) rs782436531
NM_018718.3(CEP41):c.422+5T>C
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn) rs782614635
NM_018718.3(CEP41):c.42G>T (p.Met14Ile) rs1797714880
NM_018718.3(CEP41):c.437T>C (p.Val146Ala) rs1170058733
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile) rs2117565108
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser) rs1796890244
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu) rs782587361
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser) rs201818904
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala) rs1796855782
NM_018718.3(CEP41):c.610A>G (p.Met204Val) rs782188831
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe) rs1796853863
NM_018718.3(CEP41):c.642+5C>T rs2117560304
NM_018718.3(CEP41):c.642T>C (p.Tyr214=) rs1796853773
NM_018718.3(CEP41):c.643-9del
NM_018718.3(CEP41):c.653A>G (p.His218Arg) rs527896814
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg) rs1472855500
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly) rs1796819026
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr) rs2117555473
NM_018718.3(CEP41):c.717G>T (p.Met239Ile) rs2117555395
NM_018718.3(CEP41):c.757+5G>A rs909436822
NM_018718.3(CEP41):c.769T>G (p.Leu257Val) rs2117552967
NM_018718.3(CEP41):c.773C>T (p.Ala258Val) rs1050700461
NM_018718.3(CEP41):c.798T>G (p.Ile266Met) rs2117552869
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile) rs2117552856
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser) rs2117552201
NM_018718.3(CEP41):c.928A>G (p.Ile310Val) rs1308536722
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro) rs2117551648
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
NM_018718.3(CEP41):c.973+404_1077del rs1796755672
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln) rs782387467
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu) rs782387467
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro) rs1796760925
NM_024790.6(CSPP1):c.-14_1del (p.Met1del)
Single allele

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