ClinVar Miner

List of variants reported as uncertain significance for central nervous system malformation by Invitae

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1701
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile) rs138169215 0.00077
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_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064 0.00059
NM_016464.5(TMEM138):c.461G>A (p.Arg154His) rs147966742 0.00059
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00053
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg) rs373811074 0.00052
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala) rs145464176 0.00048
NM_001082486.2(ACD):c.46C>A (p.Leu16Met) rs200365807 0.00044
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046 0.00042
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728 0.00041
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn) rs142662151 0.00031
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr) rs202104741 0.00031
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_022836.4(DCLRE1B):c.848G>A (p.Arg283His) rs143568469 0.00031
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617 0.00026
NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys) rs570605098 0.00026
NM_015631.6(TCTN3):c.1403C>T (p.Ala468Val) rs140103426 0.00026
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr) rs200178501 0.00025
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_014846.4(WASHC5):c.2422A>G (p.Ile808Val) rs144507279 0.00024
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro) rs749447795 0.00024
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu) rs28381069 0.00022
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447 0.00021
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp) rs201178873 0.00021
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe) rs376578633 0.00020
NM_022836.4(DCLRE1B):c.394G>C (p.Ala132Pro) rs140411676 0.00020
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe) rs202133913 0.00019
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp) rs141081316 0.00018
NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln) rs146482651 0.00018
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr) rs201412708 0.00017
NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met) rs769393520 0.00017
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His) rs151298198 0.00016
NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys) rs888502576 0.00016
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val) rs866563020 0.00015
NM_015631.6(TCTN3):c.821C>G (p.Ala274Gly) rs377047502 0.00015
NM_001082486.2(ACD):c.1334T>C (p.Phe445Ser) rs150078051 0.00014
NM_001368809.2(AMPD2):c.1207C>T (p.Arg403Trp) rs373128067 0.00014
NM_001368809.2(AMPD2):c.1778C>T (p.Ala593Val) rs376516473 0.00014
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu) rs149051014 0.00013
NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser) rs149728983 0.00013
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) rs372018476 0.00012
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser) rs200456170 0.00012
NM_015631.6(TCTN3):c.878A>G (p.Gln293Arg) rs141231095 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_003384.3(VRK1):c.845T>C (p.Ile282Thr) rs371024271 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_001082486.2(ACD):c.1148G>A (p.Arg383Gln) rs200293827 0.00010
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe) rs763310916 0.00010
NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn) rs780308423 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_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val) rs142747676 0.00010
NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys) rs368157267 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_001082486.2(ACD):c.488A>G (p.Asn163Ser) rs370512338 0.00009
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg) rs149350224 0.00009
NM_014846.4(WASHC5):c.122G>A (p.Arg41Lys) rs200850741 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_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn) rs200392246 0.00009
NM_001082486.2(ACD):c.-24C>T rs770445581 0.00008
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser) rs775607009 0.00008
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu) rs374925782 0.00008
NM_005027.4(PIK3R2):c.1217G>A (p.Arg406His) rs201531496 0.00008
NM_005027.4(PIK3R2):c.1290+4C>T rs376614345 0.00008
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile) rs201493612 0.00008
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu) rs773659373 0.00008
NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp) rs777030988 0.00008
NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn) rs370614998 0.00008
NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr) rs373599521 0.00007
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) rs375708075 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_001368809.2(AMPD2):c.1880C>T (p.Thr627Met) rs749833212 0.00006
NM_001368809.2(AMPD2):c.2237A>G (p.Asn746Ser) rs764032802 0.00006
NM_001368809.2(AMPD2):c.818G>A (p.Arg273Gln) rs143736463 0.00006
NM_002449.5(MSX2):c.286G>T (p.Val96Leu) rs769329948 0.00006
NM_002449.5(MSX2):c.95A>T (p.Glu32Val) rs780593593 0.00006
NM_003384.3(VRK1):c.161-3C>T rs746546400 0.00006
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser) rs369310409 0.00006
NM_005027.4(PIK3R2):c.481G>A (p.Asp161Asn) rs1208639269 0.00006
NM_005465.7(AKT3):c.820-10T>G rs370193515 0.00006
NM_014846.4(WASHC5):c.1550A>G (p.Asn517Ser) rs368546546 0.00006
NM_014846.4(WASHC5):c.2850+4T>C rs770743674 0.00006
NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr) rs142883794 0.00006
NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg) rs151123934 0.00006
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys) rs780304630 0.00006
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile) rs769275482 0.00006
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg) rs564625875 0.00006
NM_018718.3(CEP41):c.407G>A (p.Arg136His) rs546106020 0.00006
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg) rs764178255 0.00006
NM_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala) rs200134441 0.00006
NM_022836.4(DCLRE1B):c.929T>A (p.Leu310Gln) rs201436658 0.00006
NM_001077418.2(TMEM231):c.-62A>C rs964025567 0.00005
NM_001082486.2(ACD):c.100-7C>G rs774058030 0.00005
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg) rs553014261 0.00005
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys) rs531580930 0.00005
NM_001082486.2(ACD):c.1226G>A (p.Arg409His) rs374742891 0.00005
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met) rs372747629 0.00005
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys) rs200909340 0.00005
NM_001082486.2(ACD):c.617A>C (p.His206Pro) rs755371076 0.00005
NM_001082486.2(ACD):c.793C>G (p.Leu265Val) rs200934242 0.00005
NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met) rs374249741 0.00005
NM_001368809.2(AMPD2):c.1193G>A (p.Arg398His) rs138073893 0.00005
NM_001368809.2(AMPD2):c.23C>G (p.Ser8Cys) rs147463318 0.00005
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln) rs1412431442 0.00005
NM_005027.4(PIK3R2):c.107C>T (p.Ala36Val) rs768075445 0.00005
NM_005465.7(AKT3):c.1202G>A (p.Arg401Lys) rs771494754 0.00005
NM_014846.4(WASHC5):c.2575C>T (p.Arg859Cys) rs202015963 0.00005
NM_015631.6(TCTN3):c.488A>G (p.His163Arg) rs376756059 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_001082486.1(ACD):c.20G>C (p.Ser7Thr) rs373593390 0.00004
NM_001082486.1(ACD):c.80G>A (p.Gly27Glu) rs778255016 0.00004
NM_001082486.2(ACD):c.399_400insAAG (p.Leu133_Arg134insLys) rs781239912 0.00004
NM_001082486.2(ACD):c.741G>C (p.Gln247His) rs776468683 0.00004
NM_001082486.2(ACD):c.944C>A (p.Pro315His) rs147306863 0.00004
NM_001368809.2(AMPD2):c.1750T>C (p.Phe584Leu) rs763257527 0.00004
NM_001368809.2(AMPD2):c.1871G>T (p.Gly624Val) rs1349754803 0.00004
NM_001368809.2(AMPD2):c.283G>A (p.Glu95Lys) rs776751502 0.00004
NM_001368809.2(AMPD2):c.740C>T (p.Ala247Val) rs145441666 0.00004
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile) rs766118708 0.00004
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val) rs147604836 0.00004
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu) rs777028935 0.00004
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln) rs536881543 0.00004
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys) rs769507445 0.00004
NM_003384.3(VRK1):c.683C>T (p.Thr228Met) rs146113610 0.00004
NM_005027.4(PIK3R2):c.1428G>T (p.Met476Ile) rs200508580 0.00004
NM_005027.4(PIK3R2):c.145C>T (p.Arg49Cys) rs1022260890 0.00004
NM_005027.4(PIK3R2):c.271C>T (p.Arg91Trp) rs752430880 0.00004
NM_005465.7(AKT3):c.16A>G (p.Ile6Val) rs750279631 0.00004
NM_014846.4(WASHC5):c.1576G>A (p.Asp526Asn) rs766834356 0.00004
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln) rs749703625 0.00004
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala) rs553869211 0.00004
NM_014846.4(WASHC5):c.2716C>G (p.Gln906Glu) rs757250722 0.00004
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser) rs367744328 0.00004
NM_014846.4(WASHC5):c.3103C>T (p.Arg1035Cys) rs758843087 0.00004
NM_014846.4(WASHC5):c.439G>A (p.Gly147Arg) rs979115163 0.00004
NM_014846.4(WASHC5):c.875T>C (p.Ile292Thr) rs1218811554 0.00004
NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser) rs755942179 0.00004
NM_015631.6(TCTN3):c.1590+4A>T rs756071891 0.00004
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr) rs143758863 0.00004
NM_015631.6(TCTN3):c.627+6C>T rs190843846 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_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly) rs1199130382 0.00004
NM_022914.2(ACD):c.116G>A (p.Arg39His) rs199612237 0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs) rs753666055 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_001082486.1(ACD):c.179T>G (p.Leu60Arg) rs753367228 0.00003
NM_001082486.2(ACD):c.1077G>C (p.Gln359His) rs200526158 0.00003
NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu) rs781117606 0.00003
NM_001082486.2(ACD):c.602C>T (p.Ala201Val) rs777707916 0.00003
NM_001082486.2(ACD):c.607C>T (p.Pro203Ser) rs758700674 0.00003
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser) rs1300291520 0.00003
NM_001368809.2(AMPD2):c.-149G>A rs773946980 0.00003
NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr) rs149171366 0.00003
NM_001368809.2(AMPD2):c.1519C>T (p.His507Tyr) rs374652371 0.00003
NM_001368809.2(AMPD2):c.1522C>T (p.Arg508Cys) rs146798795 0.00003
NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn) rs754712604 0.00003
NM_001368809.2(AMPD2):c.1895C>T (p.Pro632Leu) rs746845817 0.00003
NM_001368809.2(AMPD2):c.433G>C (p.Glu145Gln) rs753757082 0.00003
NM_002449.5(MSX2):c.484C>T (p.Arg162Cys) rs555293970 0.00003
NM_002449.5(MSX2):c.751C>T (p.Pro251Ser) rs776218196 0.00003
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala) rs199759408 0.00003
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met) rs369917766 0.00003
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile) rs1392561922 0.00003
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys) rs755450815 0.00003
NM_005027.4(PIK3R2):c.59C>T (p.Pro20Leu) rs929809973 0.00003
NM_014846.4(WASHC5):c.1094G>C (p.Cys365Ser) rs756457820 0.00003
NM_014846.4(WASHC5):c.1642A>G (p.Met548Val) rs138176168 0.00003
NM_014846.4(WASHC5):c.2426C>G (p.Pro809Arg) rs747787888 0.00003
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln) rs762522662 0.00003
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu) rs535199429 0.00003
NM_015631.6(TCTN3):c.178G>A (p.Val60Met) rs557962090 0.00003
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro) rs758230758 0.00003
NM_016042.4(EXOSC3):c.475-12A>G rs370087266 0.00003
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met) rs565320740 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_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala) rs367553852 0.00003
NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met) rs375759945 0.00003
NM_022836.4(DCLRE1B):c.1360G>A (p.Gly454Arg) rs770223898 0.00003
NM_022836.4(DCLRE1B):c.1519A>T (p.Thr507Ser) rs757797519 0.00003
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met) rs749431578 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_001082486.1(ACD):c.43G>A (p.Gly15Arg) rs752006255 0.00002
NM_001082486.2(ACD):c.1004G>A (p.Arg335His) rs774558672 0.00002
NM_001082486.2(ACD):c.1211C>A (p.Pro404His) rs201907421 0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001082486.2(ACD):c.1217A>G (p.Lys406Arg) rs773274371 0.00002
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu) rs150387011 0.00002
NM_001082486.2(ACD):c.545dup (p.Ala184fs) rs1567641214 0.00002
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile) rs1181866888 0.00002
NM_001082486.2(ACD):c.608_609del (p.Pro203fs) rs777476880 0.00002
NM_001082486.2(ACD):c.853A>G (p.Met285Val) rs780951085 0.00002
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu) rs1006777863 0.00002
NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu) rs770051774 0.00002
NM_001368809.2(AMPD2):c.1673C>T (p.Pro558Leu) rs780742359 0.00002
NM_001368809.2(AMPD2):c.175C>T (p.Leu59Phe) rs766037337 0.00002
NM_001368809.2(AMPD2):c.841C>T (p.Arg281Cys) rs769550203 0.00002
NM_001368809.2(AMPD2):c.928G>A (p.Ala310Thr) rs747438024 0.00002
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724 0.00002
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala) rs756589419 0.00002
NM_003384.3(VRK1):c.26C>T (p.Ala9Val) rs771269721 0.00002
NM_003384.3(VRK1):c.308G>A (p.Arg103His) rs779386449 0.00002
NM_005027.4(PIK3R2):c.1288C>G (p.Gln430Glu) rs754971694 0.00002
NM_005027.4(PIK3R2):c.1532G>A (p.Arg511His) rs566152147 0.00002
NM_005465.7(AKT3):c.882A>G (p.Lys294=) rs766767139 0.00002
NM_014846.4(WASHC5):c.1210C>T (p.Arg404Trp) rs758878691 0.00002
NM_014846.4(WASHC5):c.1589T>C (p.Phe530Ser) rs184557946 0.00002
NM_014846.4(WASHC5):c.161T>C (p.Ile54Thr) rs199936194 0.00002
NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr) rs761053851 0.00002
NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg) rs202184316 0.00002
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) rs565980279 0.00002
NM_015631.6(TCTN3):c.1059C>T (p.Gly353=) rs750698768 0.00002
NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr) rs765375312 0.00002
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys) rs777277759 0.00002
NM_015631.6(TCTN3):c.11C>T (p.Pro4Leu) rs1399269953 0.00002
NM_015631.6(TCTN3):c.1396G>C (p.Asp466His) rs754607949 0.00002
NM_015631.6(TCTN3):c.1421C>A (p.Thr474Asn) rs1190331074 0.00002
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala) rs1290852650 0.00002
NM_015631.6(TCTN3):c.16C>G (p.Leu6Val) rs759598264 0.00002
NM_015631.6(TCTN3):c.499+5G>T rs1242330719 0.00002
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser) rs541135431 0.00002
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys) rs1176554738 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_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu) rs527254164 0.00002
NM_022836.4(DCLRE1B):c.1058T>C (p.Val353Ala) rs777529403 0.00002
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu) rs780781288 0.00002
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg) rs745340882 0.00002
NM_022836.4(DCLRE1B):c.178C>G (p.Arg60Gly) rs764770290 0.00002
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter) rs150374247 0.00002
NM_022836.4(DCLRE1B):c.689A>G (p.His230Arg) rs755456896 0.00002
NC_000016.10:g.67660316G>T rs774922687 0.00001
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_001082486.1(ACD):c.107G>A (p.Gly36Glu) rs527307806 0.00001
NM_001082486.1(ACD):c.122A>C (p.Gln41Pro) rs755584473 0.00001
NM_001082486.1(ACD):c.125C>A (p.Ala42Glu) rs1396620065 0.00001
NM_001082486.1(ACD):c.131G>T (p.Gly44Val) rs756883228 0.00001
NM_001082486.1(ACD):c.215C>A (p.Ala72Glu) rs765105630 0.00001
NM_001082486.1(ACD):c.67G>C (p.Gly23Arg) rs760222002 0.00001
NM_001082486.1(ACD):c.77G>C (p.Ser26Thr) rs781229512 0.00001
NM_001082486.1(ACD):c.91A>G (p.Thr31Ala) rs949049586 0.00001
NM_001082486.1(ACD):c.97C>T (p.Pro33Ser) rs776842448 0.00001
NM_001082486.2(ACD):c.-20C>T rs148124985 0.00001
NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn) rs368783801 0.00001
NM_001082486.2(ACD):c.1018C>G (p.Pro340Ala) rs745338439 0.00001
NM_001082486.2(ACD):c.1046del (p.Ser349fs) rs1291433639 0.00001
NM_001082486.2(ACD):c.1052G>A (p.Arg351His) rs370293582 0.00001
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser) rs757414908 0.00001
NM_001082486.2(ACD):c.1088C>G (p.Thr363Ser) rs996525402 0.00001
NM_001082486.2(ACD):c.1125T>G (p.Phe375Leu) rs772867895 0.00001
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp) rs747913250 0.00001
NM_001082486.2(ACD):c.1205G>A (p.Trp402Ter) rs761750721 0.00001
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser) rs779041176 0.00001
NM_001082486.2(ACD):c.124G>A (p.Val42Ile) rs758513965 0.00001
NM_001082486.2(ACD):c.1262C>G (p.Pro421Arg) rs149418249 0.00001
NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp) rs775323156 0.00001
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln) rs1397584716 0.00001
NM_001082486.2(ACD):c.170C>T (p.Thr57Met) rs1383980242 0.00001
NM_001082486.2(ACD):c.175C>T (p.Leu59Phe) rs368387402 0.00001
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys) rs775602659 0.00001
NM_001082486.2(ACD):c.494-3C>G rs1173572864 0.00001
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro) rs1435126124 0.00001
NM_001082486.2(ACD):c.581C>T (p.Thr194Ile) rs144087853 0.00001
NM_001082486.2(ACD):c.590G>T (p.Gly197Val) rs780160617 0.00001
NM_001082486.2(ACD):c.608C>T (p.Pro203Leu) rs1445067662 0.00001
NM_001082486.2(ACD):c.631C>T (p.Arg211Ter) rs1339068886 0.00001
NM_001082486.2(ACD):c.632G>A (p.Arg211Gln) rs146270351 0.00001
NM_001082486.2(ACD):c.644C>T (p.Thr215Met) rs72547495 0.00001
NM_001082486.2(ACD):c.645G>A (p.Thr215=) rs571116752 0.00001
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr) rs1039048796 0.00001
NM_001082486.2(ACD):c.683G>A (p.Cys228Tyr) rs748280747 0.00001
NM_001082486.2(ACD):c.689C>A (p.Ser230Tyr) rs752793753 0.00001
NM_001082486.2(ACD):c.725C>T (p.Pro242Leu) rs139256582 0.00001
NM_001082486.2(ACD):c.742+4A>G rs1380521995 0.00001
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu) rs754631809 0.00001
NM_001082486.2(ACD):c.781C>G (p.Leu261Val) rs760404492 0.00001
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu) rs1035052101 0.00001
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu) rs1370466465 0.00001
NM_001082486.2(ACD):c.839C>G (p.Ala280Gly) rs779705657 0.00001
NM_001082486.2(ACD):c.85G>C (p.Gly29Arg) rs754815475 0.00001
NM_001082486.2(ACD):c.862G>A (p.Glu288Lys) rs200298308 0.00001
NM_001082486.2(ACD):c.884G>A (p.Ser295Asn) rs760978454 0.00001
NM_001082486.2(ACD):c.932G>A (p.Ser311Asn) rs748834837 0.00001
NM_001082486.2(ACD):c.99+3G>A rs1189416936 0.00001
NM_001368809.2(AMPD2):c.-161T>G rs769851350 0.00001
NM_001368809.2(AMPD2):c.-18G>T rs772899120 0.00001
NM_001368809.2(AMPD2):c.-38G>A rs1650212785 0.00001
NM_001368809.2(AMPD2):c.-75G>T rs1025210705 0.00001
NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val) rs749918422 0.00001
NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met) rs751131036 0.00001
NM_001368809.2(AMPD2):c.134G>A (p.Arg45Gln) rs771577116 0.00001
NM_001368809.2(AMPD2):c.1583G>A (p.Arg528His) rs772541636 0.00001
NM_001368809.2(AMPD2):c.1652C>G (p.Thr551Ser) rs370528133 0.00001
NM_001368809.2(AMPD2):c.1745A>G (p.His582Arg) rs539379857 0.00001
NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu) rs761542502 0.00001
NM_001368809.2(AMPD2):c.2365C>T (p.Arg789Cys) rs1253216358 0.00001
NM_001368809.2(AMPD2):c.236G>A (p.Arg79His) rs1308492888 0.00001
NM_001368809.2(AMPD2):c.288G>C (p.Glu96Asp) rs745350160 0.00001
NM_001368809.2(AMPD2):c.387A>G (p.Gln129=) rs1399925815 0.00001
NM_001368809.2(AMPD2):c.415G>C (p.Asp139His) rs200750655 0.00001
NM_001368809.2(AMPD2):c.428A>G (p.Tyr143Cys) rs575582124 0.00001
NM_001368809.2(AMPD2):c.536C>T (p.Pro179Leu) rs567095077 0.00001
NM_001368809.2(AMPD2):c.602T>C (p.Met201Thr) rs748621330 0.00001
NM_001368809.2(AMPD2):c.725C>T (p.Pro242Leu) rs768283469 0.00001
NM_001368809.2(AMPD2):c.856G>A (p.Glu286Lys) rs1255257133 0.00001
NM_001368809.2(AMPD2):c.929C>T (p.Ala310Val) rs771408289 0.00001
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp) rs776868175 0.00001
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655 0.00001
NM_002449.5(MSX2):c.178A>C (p.Lys60Gln) rs1353231469 0.00001
NM_002449.5(MSX2):c.428G>A (p.Arg143Gln) rs751060486 0.00001
NM_002449.5(MSX2):c.698C>T (p.Ala233Val) rs138053303 0.00001
NM_002449.5(MSX2):c.77C>T (p.Pro26Leu) rs745950729 0.00001
NM_002449.5(MSX2):c.83C>T (p.Pro28Leu) rs1361478485 0.00001
NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala) rs1448692172 0.00001
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu) rs1430956453 0.00001
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln) rs145241983 0.00001
NM_003384.3(VRK1):c.1159+5G>C rs372052354 0.00001
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys) rs149083861 0.00001
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys) rs766501031 0.00001
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg) rs759541730 0.00001
NM_003384.3(VRK1):c.127A>G (p.Ile43Val) rs777420974 0.00001
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg) rs1372198425 0.00001
NM_003384.3(VRK1):c.151A>G (p.Ile51Val) rs1237038231 0.00001
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu) rs1474265077 0.00001
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr) rs768889718 0.00001
NM_003384.3(VRK1):c.302G>A (p.Arg101His) rs372646027 0.00001
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg) rs1064796973 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_003384.3(VRK1):c.398G>A (p.Arg133His) rs758978677 0.00001
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys) rs201936978 0.00001
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr) rs1888016669 0.00001
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe) rs1452833653 0.00001
NM_003384.3(VRK1):c.583T>G (p.Leu195Val) rs779770049 0.00001
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp) rs144600646 0.00001
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp) rs1311364931 0.00001
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys) rs141703130 0.00001
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln) rs1200170208 0.00001
NM_003384.3(VRK1):c.772C>T (p.His258Tyr) rs761905254 0.00001
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys) rs747692654 0.00001
NM_003384.3(VRK1):c.82A>G (p.Ile28Val) rs1210199221 0.00001
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly) rs1449338678 0.00001
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg) rs1310616396 0.00001
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg) rs1340163417 0.00001
NM_003384.3(VRK1):c.889+4G>C rs761286112 0.00001
NM_005027.4(PIK3R2):c.1042C>A (p.Pro348Thr) rs368358984 0.00001
NM_005027.4(PIK3R2):c.1157A>G (p.His386Arg) rs750258489 0.00001
NM_005027.4(PIK3R2):c.1513T>C (p.Tyr505His) rs2043808995 0.00001
NM_005027.4(PIK3R2):c.1543G>A (p.Glu515Lys) rs765672206 0.00001
NM_005027.4(PIK3R2):c.1640G>A (p.Arg547Gln) rs200781840 0.00001
NM_005027.4(PIK3R2):c.2120C>T (p.Ala707Val) rs772782368 0.00001
NM_005027.4(PIK3R2):c.380T>C (p.Leu127Pro) rs920139065 0.00001
NM_005027.4(PIK3R2):c.553C>G (p.Leu185Val) rs1016301486 0.00001
NM_005027.4(PIK3R2):c.56G>A (p.Arg19Gln) rs754693011 0.00001
NM_005027.4(PIK3R2):c.586C>T (p.Arg196Trp) rs770193876 0.00001
NM_005465.7(AKT3):c.1275A>G (p.Gln425=) rs143949494 0.00001
NM_005465.7(AKT3):c.409A>G (p.Thr137Ala) rs1351256745 0.00001
NM_005465.7(AKT3):c.410C>T (p.Thr137Ile) rs202064755 0.00001
NM_014846.4(WASHC5):c.1211G>A (p.Arg404Gln) rs753133551 0.00001
NM_014846.4(WASHC5):c.1235A>G (p.Gln412Arg) rs1328488239 0.00001
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro) rs766713240 0.00001
NM_014846.4(WASHC5):c.1408+4A>C rs780340651 0.00001
NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg) rs1357562835 0.00001
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu) rs751591590 0.00001
NM_014846.4(WASHC5):c.2032C>T (p.His678Tyr) rs1403229183 0.00001
NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser) rs1289915533 0.00001
NM_014846.4(WASHC5):c.2769C>T (p.Val923=) rs545318648 0.00001
NM_014846.4(WASHC5):c.2846T>C (p.Met949Thr) rs1182525812 0.00001
NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His) rs761500521 0.00001
NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala) rs775752911 0.00001
NM_014846.4(WASHC5):c.3121A>G (p.Ile1041Val) rs1184928685 0.00001
NM_014846.4(WASHC5):c.3145G>A (p.Ala1049Thr) rs375664674 0.00001
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp) rs765982075 0.00001
NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser) rs1019440298 0.00001
NM_014846.4(WASHC5):c.864+5G>C rs772529893 0.00001
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) rs753529606 0.00001
NM_015631.6(TCTN3):c.1088G>A (p.Arg363His) rs1267547707 0.00001
NM_015631.6(TCTN3):c.1111A>G (p.Thr371Ala) rs768480385 0.00001
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly) rs745968146 0.00001
NM_015631.6(TCTN3):c.1176G>T (p.Leu392Phe) rs931265396 0.00001
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn) rs768285987 0.00001
NM_015631.6(TCTN3):c.119G>A (p.Arg40Gln) rs1314333060 0.00001
NM_015631.6(TCTN3):c.121G>A (p.Gly41Arg) rs1194762228 0.00001
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) rs200705429 0.00001
NM_015631.6(TCTN3):c.1279A>G (p.Ile427Val) rs142986132 0.00001
NM_015631.6(TCTN3):c.1285G>A (p.Gly429Arg) rs773447066 0.00001
NM_015631.6(TCTN3):c.1346C>G (p.Thr449Ser) rs775556315 0.00001
NM_015631.6(TCTN3):c.1453G>T (p.Ala485Ser) rs2097942068 0.00001
NM_015631.6(TCTN3):c.1463G>C (p.Cys488Ser) rs1273735180 0.00001
NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile) rs767733835 0.00001
NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu) rs756561177 0.00001
NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter) rs771745084 0.00001
NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val) rs747933488 0.00001
NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del) rs891059654 0.00001
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile) rs768523448 0.00001
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe) rs746968875 0.00001
NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr) rs999127884 0.00001
NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr) rs1391185443 0.00001
NM_015631.6(TCTN3):c.381-3C>T rs546476903 0.00001
NM_015631.6(TCTN3):c.606A>G (p.Gln202=) rs777642622 0.00001
NM_015631.6(TCTN3):c.627G>A (p.Arg209=) rs752918067 0.00001
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala) rs780438906 0.00001
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser) rs762720849 0.00001
NM_015631.6(TCTN3):c.879G>C (p.Gln293His) rs147928670 0.00001
NM_015631.6(TCTN3):c.883A>G (p.Met295Val) rs746046233 0.00001
NM_015631.6(TCTN3):c.894G>C (p.Gln298His) rs1464905299 0.00001
NM_015631.6(TCTN3):c.924T>G (p.Asn308Lys) rs971089853 0.00001
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln) rs748839685 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
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=) rs759682384 0.00001
NM_022836.4(DCLRE1B):c.1181T>G (p.Leu394Trp) rs758926583 0.00001
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp) rs774397708 0.00001
NM_022836.4(DCLRE1B):c.1433G>T (p.Gly478Val) rs781509316 0.00001
NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg) rs748342283 0.00001
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala) rs770692934 0.00001
NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg) rs1439653012 0.00001
NM_022836.4(DCLRE1B):c.280C>T (p.Leu94Phe) rs758475213 0.00001
NM_022836.4(DCLRE1B):c.524A>G (p.His175Arg) rs375674908 0.00001
NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln) rs1401066315 0.00001
NM_022836.4(DCLRE1B):c.752C>T (p.Thr251Met) rs745991382 0.00001
NM_022836.4(DCLRE1B):c.781A>G (p.Ile261Val) rs1478635543 0.00001
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile) rs921843370 0.00001
NM_022836.4(DCLRE1B):c.899G>A (p.Arg300Gln) rs1216262296 0.00001
NC_000001.10:g.(?_110145976)_(110173774_?)dup
NC_000001.10:g.(?_243663038)_(243668656_?)dup
NC_000002.11:g.(?_202334676)_(202523241_?)dup
NC_000002.11:g.(?_202488978)_(202508123_?)dup
NC_000002.11:g.(?_202496774)_(202498154_?)del
NC_000002.11:g.(?_231033840)_(234978657_?)dup
NC_000002.11:g.(?_232597662)_(232597763_?)del
NC_000002.11:g.(?_232597662)_(232597763_?)dup
NC_000002.11:g.(?_232597662)_(232603918_?)dup
NC_000005.9:g.(?_174151663)_(174156586_?)dup
NC_000008.10:g.(?_126036859)_(126379127_?)dup
NC_000008.10:g.(?_126049459)_(126075913_?)del
NC_000008.11:g.(?_125024607)_(125044104_?)del
NC_000010.10:g.(?_97440209)_(97440386_?)del
NC_000010.10:g.(?_97442388)_(97516032_?)dup
NC_000016.10:g.67660263_67660288del
NC_000016.10:g.67660263_67660288dup rs1339425052
NC_000016.10:g.67660277C>G rs776666988
NC_000016.10:g.67660292_67660309del rs1185708088
NC_000016.10:g.67660300del rs2142976499
NC_000016.10:g.67660322_67660356del rs2142976594
NC_000016.10:g.67660324AGG[2] rs1198905942
NC_000016.10:g.67660332_67660346dup rs2142976632
NC_000016.10:g.67660358G>A rs1347436636
NC_000016.10:g.67660400C>G rs2052987449
NC_000016.10:g.67660407C>T rs745972649
NC_000016.10:g.67660407_67660419dup rs757084527
NC_000016.10:g.67660478T>C rs1308323945
NC_000016.9:g.(?_65821800)_(72146396_?)del
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
NC_000019.10:g.(?_18167110)_(18169314_?)dup
NC_000019.9:g.(?_17927663)_(19312528_?)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_001082486.1(ACD):c.101G>T (p.Arg34Leu)
NM_001082486.1(ACD):c.103G>A (p.Ala35Thr) rs772377460
NM_001082486.1(ACD):c.106G>A (p.Gly36Arg) rs1452825225
NM_001082486.1(ACD):c.109C>T (p.Arg37Cys) rs748543340
NM_001082486.1(ACD):c.115C>T (p.Arg39Cys)
NM_001082486.1(ACD):c.119C>A (p.Ala40Glu)
NM_001082486.1(ACD):c.119C>T (p.Ala40Val) rs374417270
NM_001082486.1(ACD):c.121C>A (p.Gln41Lys)
NM_001082486.1(ACD):c.128G>A (p.Arg43Gln) rs767099534
NM_001082486.1(ACD):c.149T>G (p.Leu50Arg)
NM_001082486.1(ACD):c.157C>T (p.Arg53Trp) rs773291286
NM_001082486.1(ACD):c.176A>G (p.Glu59Gly)
NM_001082486.1(ACD):c.179T>C (p.Leu60Pro)
NM_001082486.1(ACD):c.182C>T (p.Pro61Leu)
NM_001082486.1(ACD):c.187C>T (p.Pro63Ser) rs2142976460
NM_001082486.1(ACD):c.18G>C (p.Gln6His)
NM_001082486.1(ACD):c.208G>A (p.Ala70Thr) rs763682845
NM_001082486.1(ACD):c.208G>T (p.Ala70Ser)
NM_001082486.1(ACD):c.217G>A (p.Gly73Arg)
NM_001082486.1(ACD):c.35G>C (p.Arg12Thr)
NM_001082486.1(ACD):c.37G>A (p.Val13Ile) rs781424953
NM_001082486.1(ACD):c.56G>A (p.Arg19His)
NM_001082486.1(ACD):c.62C>T (p.Pro21Leu)
NM_001082486.1(ACD):c.65C>T (p.Ala22Val)
NM_001082486.1(ACD):c.74C>G (p.Thr25Ser) rs1237579301
NM_001082486.1(ACD):c.78C>A (p.Ser26Arg)
NM_001082486.1(ACD):c.7G>C (p.Gly3Arg)
NM_001082486.1(ACD):c.88C>T (p.His30Tyr) rs376813282
NM_001082486.1(ACD):c.94G>C (p.Gly32Arg) rs761628896
NM_001082486.1(ACD):c.94G>T (p.Gly32Cys) rs761628896
NM_001082486.1(ACD):c.95G>A (p.Gly32Asp) rs774085628
NM_001082486.1(ACD):c.95G>T (p.Gly32Val)
NM_001082486.2(ACD):c.-14G>T
NM_001082486.2(ACD):c.-23A>T rs746445437
NM_001082486.2(ACD):c.-26T>G
NM_001082486.2(ACD):c.-29C>A
NM_001082486.2(ACD):c.-29C>G rs534010648
NM_001082486.2(ACD):c.-29C>T
NM_001082486.2(ACD):c.-30C>T
NM_001082486.2(ACD):c.-36C>A rs762184098
NM_001082486.2(ACD):c.-36C>G rs762184098
NM_001082486.2(ACD):c.-36C>T
NM_001082486.2(ACD):c.-38A>T
NM_001082486.2(ACD):c.-8C>G rs766360608
NM_001082486.2(ACD):c.-8C>T rs766360608
NM_001082486.2(ACD):c.-9G>A
NM_001082486.2(ACD):c.-9G>C rs377247506
NM_001082486.2(ACD):c.-9G>T rs377247506
NM_001082486.2(ACD):c.100-1G>A
NM_001082486.2(ACD):c.1003C>T (p.Arg335Cys) rs762262197
NM_001082486.2(ACD):c.1007C>T (p.Thr336Ile)
NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser)
NM_001082486.2(ACD):c.1024C>T (p.Gln342Ter) rs1316577809
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg) rs1567640107
NM_001082486.2(ACD):c.1040del (p.Ser347fs)
NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu) rs2142967912
NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu)
NM_001082486.2(ACD):c.1051C>T (p.Arg351Cys)
NM_001082486.2(ACD):c.1058A>G (p.His353Arg)
NM_001082486.2(ACD):c.107A>G (p.Gln36Arg)
NM_001082486.2(ACD):c.1081C>T (p.Leu361Phe)
NM_001082486.2(ACD):c.1102C>T (p.Pro368Ser) rs143990276
NM_001082486.2(ACD):c.1103_1104del (p.Pro368fs)
NM_001082486.2(ACD):c.1106G>A (p.Ser369Asn)
NM_001082486.2(ACD):c.1126G>A (p.Val376Ile)
NM_001082486.2(ACD):c.1130G>T (p.Gly377Val) rs2142967624
NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)
NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu)
NM_001082486.2(ACD):c.1186C>T (p.Gln396Ter) rs2052908546
NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys)
NM_001082486.2(ACD):c.1206+4A>G rs2142967211
NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu) rs201907421
NM_001082486.2(ACD):c.1214C>T (p.Pro405Leu)
NM_001082486.2(ACD):c.1224T>A (p.His408Gln)
NM_001082486.2(ACD):c.1232G>A (p.Gly411Asp)
NM_001082486.2(ACD):c.1238C>T (p.Ala413Val) rs2052901178
NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys) rs1476903915
NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn) rs1281121095
NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg)
NM_001082486.2(ACD):c.1262C>T (p.Pro421Leu) rs149418249
NM_001082486.2(ACD):c.1280C>T (p.Ala427Val)
NM_001082486.2(ACD):c.1289A>G (p.Gln430Arg)
NM_001082486.2(ACD):c.128C>G (p.Ala43Gly)
NM_001082486.2(ACD):c.1297A>C (p.Arg433=) rs1407657316
NM_001082486.2(ACD):c.1298+1G>C rs2052898891
NM_001082486.2(ACD):c.1299-19A>G
NM_001082486.2(ACD):c.1299G>A (p.Arg433=)
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser) rs201926842
NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu)
NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn)
NM_001082486.2(ACD):c.1363C>T (p.Pro455Ser)
NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs) rs772312742
NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr)
NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala)
NM_001082486.2(ACD):c.1370_1371delinsTT (p.Pro457Leu) rs2142965523
NM_001082486.2(ACD):c.1373T>A (p.Met458Lys)
NM_001082486.2(ACD):c.137C>T (p.Ser46Phe)
NM_001082486.2(ACD):c.139C>G (p.His47Asp) rs1057522813
NM_001082486.2(ACD):c.140A>G (p.His47Arg)
NM_001082486.2(ACD):c.143C>G (p.Ala48Gly)
NM_001082486.2(ACD):c.145C>T (p.Pro49Ser)
NM_001082486.2(ACD):c.164G>T (p.Gly55Val)
NM_001082486.2(ACD):c.184G>A (p.Asp62Asn)
NM_001082486.2(ACD):c.188G>C (p.Gly63Ala)
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser) rs779383442
NM_001082486.2(ACD):c.194A>G (p.His65Arg)
NM_001082486.2(ACD):c.206G>C (p.Cys69Ser) rs748312961
NM_001082486.2(ACD):c.233C>A (p.Thr78Asn)
NM_001082486.2(ACD):c.242+5G>A
NM_001082486.2(ACD):c.266G>T (p.Arg89Leu)
NM_001082486.2(ACD):c.28C>T (p.Arg10Trp)
NM_001082486.2(ACD):c.290T>C (p.Leu97Pro)
NM_001082486.2(ACD):c.300_305dup (p.Gly102_Val103insCysGly)
NM_001082486.2(ACD):c.304G>C (p.Gly102Arg)
NM_001082486.2(ACD):c.307G>T (p.Val103Phe)
NM_001082486.2(ACD):c.316C>T (p.Gln106Ter) rs2142974596
NM_001082486.2(ACD):c.326A>T (p.Glu109Val)
NM_001082486.2(ACD):c.32C>T (p.Pro11Leu)
NM_001082486.2(ACD):c.332G>A (p.Gly111Asp) rs2142974572
NM_001082486.2(ACD):c.334G>A (p.Ala112Thr)
NM_001082486.2(ACD):c.336+12G>A
NM_001082486.2(ACD):c.340G>T (p.Ala114Ser) rs377701284
NM_001082486.2(ACD):c.343G>C (p.Glu115Gln) rs141113896
NM_001082486.2(ACD):c.350A>T (p.Tyr117Phe)
NM_001082486.2(ACD):c.357G>C (p.Gln119His) rs2052958022
NM_001082486.2(ACD):c.359dup (p.Asp121fs)
NM_001082486.2(ACD):c.361G>C (p.Asp121His)
NM_001082486.2(ACD):c.36G>A (p.Trp12Ter) rs1244950221
NM_001082486.2(ACD):c.413+1G>C
NM_001082486.2(ACD):c.425T>G (p.Leu142Ter) rs2142973399
NM_001082486.2(ACD):c.427G>T (p.Asp143Tyr)
NM_001082486.2(ACD):c.430G>A (p.Val144Ile)
NM_001082486.2(ACD):c.43G>C (p.Glu15Gln) rs2142976000
NM_001082486.2(ACD):c.443T>C (p.Leu148Pro)
NM_001082486.2(ACD):c.452G>T (p.Cys151Phe)
NM_001082486.2(ACD):c.453C>A (p.Cys151Ter)
NM_001082486.2(ACD):c.485_486insGC (p.Asn163fs) rs2142972519
NM_001082486.2(ACD):c.493+6G>A rs2052945054
NM_001082486.2(ACD):c.494-11C>G
NM_001082486.2(ACD):c.494-5C>G
NM_001082486.2(ACD):c.496_500del (p.Leu166fs)
NM_001082486.2(ACD):c.515T>C (p.Leu172Pro) rs2142971578
NM_001082486.2(ACD):c.526C>T (p.Arg176Trp)
NM_001082486.2(ACD):c.527G>A (p.Arg176Gln) rs145007645
NM_001082486.2(ACD):c.527G>T (p.Arg176Leu) rs145007645
NM_001082486.2(ACD):c.536A>G (p.Gln179Arg)
NM_001082486.2(ACD):c.536del (p.Gln179fs) rs2142971508
NM_001082486.2(ACD):c.547G>A (p.Gly183Arg) rs2142971458
NM_001082486.2(ACD):c.548G>A (p.Gly183Glu)
NM_001082486.2(ACD):c.556G>A (p.Val186Met)
NM_001082486.2(ACD):c.578T>A (p.Leu193Gln)
NM_001082486.2(ACD):c.587A>T (p.Glu196Val)
NM_001082486.2(ACD):c.590G>A (p.Gly197Asp)
NM_001082486.2(ACD):c.607C>G (p.Pro203Ala)
NM_001082486.2(ACD):c.626C>T (p.Ala209Val)
NM_001082486.2(ACD):c.634T>C (p.Cys212Arg)
NM_001082486.2(ACD):c.641C>T (p.Ala214Val) rs1306270247
NM_001082486.2(ACD):c.645+10G>C
NM_001082486.2(ACD):c.645+2T>C
NM_001082486.2(ACD):c.646-20A>G
NM_001082486.2(ACD):c.653C>T (p.Ala218Val)
NM_001082486.2(ACD):c.657_665dup (p.Tyr220_Val222dup) rs2142970611
NM_001082486.2(ACD):c.662C>T (p.Thr221Ile)
NM_001082486.2(ACD):c.672C>G (p.Ser224Arg)
NM_001082486.2(ACD):c.676A>G (p.Met226Val)
NM_001082486.2(ACD):c.689C>T (p.Ser230Phe)
NM_001082486.2(ACD):c.702G>C (p.Gln234His) rs1202466632
NM_001082486.2(ACD):c.706A>T (p.Ile236Phe) rs757807430
NM_001082486.2(ACD):c.718C>G (p.Leu240Val)
NM_001082486.2(ACD):c.724C>T (p.Pro242Ser)
NM_001082486.2(ACD):c.727T>C (p.Cys243Arg)
NM_001082486.2(ACD):c.733A>G (p.Arg245Gly)
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys) rs1048865744
NM_001082486.2(ACD):c.734G>C (p.Arg245Thr) rs1048865744
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys) rs1555542235
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys) rs1597770431
NM_001082486.2(ACD):c.743G>A (p.Gly248Asp)
NM_001082486.2(ACD):c.751C>G (p.Leu251Val)
NM_001082486.2(ACD):c.757C>T (p.Pro253Ser)
NM_001082486.2(ACD):c.764A>G (p.Asp255Gly) rs778481591
NM_001082486.2(ACD):c.767C>G (p.Pro256Arg)
NM_001082486.2(ACD):c.773T>C (p.Leu258Pro)
NM_001082486.2(ACD):c.791C>T (p.Thr264Ile)
NM_001082486.2(ACD):c.805CCT[1] (p.Pro270del)
NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr)
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del) rs777131279
NM_001082486.2(ACD):c.820A>G (p.Ser274Gly) rs2052924182
NM_001082486.2(ACD):c.830-1G>A rs1597769397
NM_001082486.2(ACD):c.830-2A>T rs2142968890
NM_001082486.2(ACD):c.833C>T (p.Thr278Ile)
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)
NM_001082486.2(ACD):c.857C>T (p.Ser286Leu)
NM_001082486.2(ACD):c.875C>G (p.Thr292Ser)
NM_001082486.2(ACD):c.878G>A (p.Ser293Asn) rs2052917223
NM_001082486.2(ACD):c.902C>A (p.Ser301Tyr)
NM_001082486.2(ACD):c.90G>C (p.Gln30His) rs1242526760
NM_001082486.2(ACD):c.911C>T (p.Ala304Val) rs2142968526
NM_001082486.2(ACD):c.931A>T (p.Ser311Cys)
NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)
NM_001082486.2(ACD):c.950_951del (p.Pro317fs) rs2142968355
NM_001082486.2(ACD):c.961T>A (p.Ser321Thr) rs2052915383
NM_001082486.2(ACD):c.965C>T (p.Ala322Val) rs2142968307
NM_001082486.2(ACD):c.971C>A (p.Ala324Asp)
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn) rs777812658
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile) rs777812658
NM_001082486.2(ACD):c.998C>A (p.Ala333Asp) rs973439601
NM_001368809.2(AMPD2):c.-119G>C
NM_001368809.2(AMPD2):c.-45C>T
NM_001368809.2(AMPD2):c.-46C>G rs1650210949
NM_001368809.2(AMPD2):c.-95T>C
NM_001368809.2(AMPD2):c.104G>T (p.Gly35Val) rs2101153100
NM_001368809.2(AMPD2):c.1072A>G (p.Ile358Val) rs1195759768
NM_001368809.2(AMPD2):c.1080+3G>A
NM_001368809.2(AMPD2):c.1175T>C (p.Val392Ala)
NM_001368809.2(AMPD2):c.1252G>A (p.Val418Met) rs2101165160
NM_001368809.2(AMPD2):c.1275G>A (p.Ala425=)
NM_001368809.2(AMPD2):c.1286C>G (p.Thr429Ser) rs2101165790
NM_001368809.2(AMPD2):c.1446T>A (p.Asn482Lys) rs756027056
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln) rs192669225
NM_001368809.2(AMPD2):c.145G>T (p.Gly49Cys) rs1200977295
NM_001368809.2(AMPD2):c.1474C>T (p.Arg492Cys)
NM_001368809.2(AMPD2):c.1478C>T (p.Ser493Leu)
NM_001368809.2(AMPD2):c.1505G>A (p.Arg502His)
NM_001368809.2(AMPD2):c.1513G>A (p.Val505Ile)
NM_001368809.2(AMPD2):c.1519C>A (p.His507Asn) rs374652371
NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr)
NM_001368809.2(AMPD2):c.1522C>G (p.Arg508Gly) rs146798795
NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)
NM_001368809.2(AMPD2):c.152C>T (p.Ala51Val)
NM_001368809.2(AMPD2):c.1532C>T (p.Ser511Phe) rs2101167424
NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser)
NM_001368809.2(AMPD2):c.1637C>T (p.Pro546Leu)
NM_001368809.2(AMPD2):c.1738G>A (p.Glu580Lys) rs867766720
NM_001368809.2(AMPD2):c.1825A>T (p.Thr609Ser)
NM_001368809.2(AMPD2):c.185G>A (p.Arg62His)
NM_001368809.2(AMPD2):c.1861A>G (p.Arg621Gly)
NM_001368809.2(AMPD2):c.1863-7C>G rs563578390
NM_001368809.2(AMPD2):c.190T>G (p.Ser64Ala)
NM_001368809.2(AMPD2):c.1979G>T (p.Arg660Leu) rs955380053
NM_001368809.2(AMPD2):c.2017C>G (p.Gln673Glu)
NM_001368809.2(AMPD2):c.2101C>G (p.Arg701Gly) rs1264297138
NM_001368809.2(AMPD2):c.2157G>A (p.Lys719=) rs2101174469
NM_001368809.2(AMPD2):c.2162C>T (p.Pro721Leu) rs1651160667
NM_001368809.2(AMPD2):c.2173G>A (p.Glu725Lys)
NM_001368809.2(AMPD2):c.2233C>G (p.Arg745Gly) rs762954605
NM_001368809.2(AMPD2):c.2234G>A (p.Arg745His)
NM_001368809.2(AMPD2):c.2254G>T (p.Gly752Cys)
NM_001368809.2(AMPD2):c.2329C>G (p.Arg777Gly) rs1651209949
NM_001368809.2(AMPD2):c.2356G>A (p.Val786Met)
NM_001368809.2(AMPD2):c.2360G>A (p.Gly787Asp)
NM_001368809.2(AMPD2):c.2388G>T (p.Glu796Asp) rs202071045
NM_001368809.2(AMPD2):c.239_262del (p.Ser80_Ser88delinsCys) rs2101154665
NM_001368809.2(AMPD2):c.314G>T (p.Arg105Leu) rs1650618181
NM_001368809.2(AMPD2):c.316C>T (p.Arg106Trp)
NM_001368809.2(AMPD2):c.353+3G>A
NM_001368809.2(AMPD2):c.376C>T (p.Arg126Trp)
NM_001368809.2(AMPD2):c.41A>T (p.Lys14Ile)
NM_001368809.2(AMPD2):c.422A>G (p.Gln141Arg) rs2101156801
NM_001368809.2(AMPD2):c.439G>C (p.Gly147Arg)
NM_001368809.2(AMPD2):c.457C>T (p.Arg153Trp) rs373334637
NM_001368809.2(AMPD2):c.467G>A (p.Arg156Gln)
NM_001368809.2(AMPD2):c.487C>T (p.Arg163Trp)
NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro) rs138175138
NM_001368809.2(AMPD2):c.50T>C (p.Phe17Ser)
NM_001368809.2(AMPD2):c.640C>T (p.Arg214Cys)
NM_001368809.2(AMPD2):c.679C>T (p.Arg227Trp)
NM_001368809.2(AMPD2):c.700G>A (p.Asp234Asn)
NM_001368809.2(AMPD2):c.73G>T (p.Ala25Ser) rs943933650
NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu)
NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)
NM_001368809.2(AMPD2):c.809G>A (p.Arg270His) rs749468757
NM_001368809.2(AMPD2):c.823G>A (p.Val275Met)
NM_001368809.2(AMPD2):c.832G>C (p.Val278Leu) rs770528852
NM_001368809.2(AMPD2):c.842G>A (p.Arg281His)
NM_001368809.2(AMPD2):c.852CGA[1] (p.Asp285del) rs1650781134
NM_001368809.2(AMPD2):c.853G>A (p.Asp285Asn)
NM_001368809.2(AMPD2):c.861-3C>T
NM_001368809.2(AMPD2):c.913G>A (p.Val305Ile)
NM_002449.5(MSX2):c.116G>T (p.Arg39Leu)
NM_002449.5(MSX2):c.127T>C (p.Ser43Pro)
NM_002449.5(MSX2):c.143G>C (p.Ser48Thr) rs1760741097
NM_002449.5(MSX2):c.152C>T (p.Ala51Val) rs1344807799
NM_002449.5(MSX2):c.157A>C (p.Met53Leu)
NM_002449.5(MSX2):c.163G>C (p.Asp55His)
NM_002449.5(MSX2):c.179A>C (p.Lys60Thr) rs2113491774
NM_002449.5(MSX2):c.197C>G (p.Pro66Arg)
NM_002449.5(MSX2):c.197C>T (p.Pro66Leu)
NM_002449.5(MSX2):c.215C>G (p.Ala72Gly)
NM_002449.5(MSX2):c.2T>C (p.Met1Thr)
NM_002449.5(MSX2):c.304G>C (p.Ala102Pro)
NM_002449.5(MSX2):c.332A>T (p.Asp111Val)
NM_002449.5(MSX2):c.338C>T (p.Ala113Val)
NM_002449.5(MSX2):c.361C>G (p.Arg121Gly)
NM_002449.5(MSX2):c.437G>A (p.Arg146His)
NM_002449.5(MSX2):c.43G>A (p.Glu15Lys)
NM_002449.5(MSX2):c.442C>T (p.Pro148Ser) rs1581520079
NM_002449.5(MSX2):c.449C>G (p.Thr150Ser) rs2113498683
NM_002449.5(MSX2):c.451A>G (p.Thr151Ala)
NM_002449.5(MSX2):c.452C>T (p.Thr151Ile)
NM_002449.5(MSX2):c.479A>G (p.Lys160Arg)
NM_002449.5(MSX2):c.505A>G (p.Ile169Val) rs2113498787
NM_002449.5(MSX2):c.50G>T (p.Gly17Val)
NM_002449.5(MSX2):c.572A>G (p.Gln191Arg) rs1760875161
NM_002449.5(MSX2):c.613C>G (p.Leu205Val)
NM_002449.5(MSX2):c.643A>T (p.Met215Leu)
NM_002449.5(MSX2):c.645G>A (p.Met215Ile)
NM_002449.5(MSX2):c.653C>T (p.Ser218Phe)
NM_002449.5(MSX2):c.670T>C (p.Phe224Leu)
NM_002449.5(MSX2):c.683C>T (p.Ser228Leu)
NM_002449.5(MSX2):c.712G>A (p.Ala238Thr) rs1435910539
NM_002449.5(MSX2):c.722C>T (p.Pro241Leu)
NM_002449.5(MSX2):c.726C>A (p.Phe242Leu)
NM_002449.5(MSX2):c.73G>C (p.Gly25Arg)
NM_002449.5(MSX2):c.745A>G (p.Ile249Val) rs1760880294
NM_002449.5(MSX2):c.764A>G (p.Tyr255Cys)
NM_002449.5(MSX2):c.789G>A (p.Met263Ile)
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
NM_002601.4(PDE6D):c.266-3C>T rs2106260539
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro) rs2106260506
NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp)
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile) rs2048708941
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys) rs1023549002
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp) rs2106256926
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser) rs1366113264
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)
NM_002601.4(PDE6D):c.51A>C (p.Leu17=) rs1328575509
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp) rs570163390
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu) rs1261157260
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly) rs1888350254
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val) rs1888350254
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg) rs779911846
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro) rs1566713262
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met) rs1595691552
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg) rs2139748832
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg) rs1470768259
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala) rs1168205465
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro) rs199759408
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg) rs1595691599
NM_003384.3(VRK1):c.1160-2A>G rs199916225
NM_003384.3(VRK1):c.1160-5T>C rs2139857584
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
NM_003384.3(VRK1):c.184G>A (p.Val62Ile) rs1555360117
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
NM_003384.3(VRK1):c.217-3A>G rs1009112116
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
NM_003384.3(VRK1):c.238C>G (p.Leu80Val) rs2139779081
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys) rs2139779137
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro) rs1887677369
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly) rs1887746110
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp) rs1888003676
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu) rs764788560
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu) rs1888005284
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu) rs763034734
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser) rs888338488
NM_003384.3(VRK1):c.483T>A (p.Ile161=) rs1888008625
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro) rs1888014947
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg) rs888762581
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup) rs2139796397
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg) rs1566708080
NM_003384.3(VRK1):c.544A>C (p.Asn182His) rs745552947
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del) rs774219368
NM_003384.3(VRK1):c.551T>A (p.Leu184His) rs1888017746
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe) rs748878251
NM_003384.3(VRK1):c.586G>C (p.Val196Leu) rs372089106
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp) rs1555361508
NM_003384.3(VRK1):c.668G>T (p.Gly223Val) rs1555361508
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly) rs757917768
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser) rs2139802156
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro) rs1478722226
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp) rs1888144387
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg) rs768822328
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser) rs1064797191
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe) rs1566696565
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu) rs1888147421
NM_003384.3(VRK1):c.817G>C (p.Asp273His) rs1595677216
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_003384.3(VRK1):c.8G>A (p.Arg3His) rs902439355
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu) rs761494436
NM_003384.3(VRK1):c.962G>A (p.Arg321His) rs200927943
NM_003384.3(VRK1):c.967A>G (p.Ile323Val) rs754315181
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg) rs2139814873
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
NM_005027.4(PIK3R2):c.1003A>G (p.Ile335Val)
NM_005027.4(PIK3R2):c.1026G>C (p.Glu342Asp)
NM_005027.4(PIK3R2):c.1034G>A (p.Arg345Gln)
NM_005027.4(PIK3R2):c.103C>T (p.Arg35Trp)
NM_005027.4(PIK3R2):c.1099C>G (p.Leu367Val) rs903373803
NM_005027.4(PIK3R2):c.1113A>G (p.Lys371=)
NM_005027.4(PIK3R2):c.1124A>G (p.Asn375Ser) rs1421203694
NM_005027.4(PIK3R2):c.1192G>C (p.Val398Leu) rs771756537
NM_005027.4(PIK3R2):c.119C>T (p.Ala40Val)
NM_005027.4(PIK3R2):c.1216C>T (p.Arg406Cys)
NM_005027.4(PIK3R2):c.1361A>G (p.Gln454Arg)
NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys)
NM_005027.4(PIK3R2):c.1529G>A (p.Arg510Gln)
NM_005027.4(PIK3R2):c.1576G>A (p.Glu526Lys)
NM_005027.4(PIK3R2):c.1652C>T (p.Ser551Leu)
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg) rs1131691683
NM_005027.4(PIK3R2):c.1736+5G>C
NM_005027.4(PIK3R2):c.1736+6T>G
NM_005027.4(PIK3R2):c.1766A>G (p.Lys589Arg)
NM_005027.4(PIK3R2):c.1775A>G (p.Asn592Ser)
NM_005027.4(PIK3R2):c.1903A>G (p.Met635Val)
NM_005027.4(PIK3R2):c.1955G>A (p.Arg652Gln)
NM_005027.4(PIK3R2):c.1977G>T (p.Val659=)
NM_005027.4(PIK3R2):c.1980-16_1980-3del
NM_005027.4(PIK3R2):c.1988_1989delinsAA (p.Gly663Glu)
NM_005027.4(PIK3R2):c.199C>T (p.Arg67Ter) rs2147945157
NM_005027.4(PIK3R2):c.2152G>T (p.Ala718Ser)
NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val)
NM_005027.4(PIK3R2):c.2169GCC[1] (p.Pro725del)
NM_005027.4(PIK3R2):c.259G>A (p.Gly87Ser)
NM_005027.4(PIK3R2):c.259_263del (p.Gly87fs)
NM_005027.4(PIK3R2):c.266G>A (p.Arg89His)
NM_005027.4(PIK3R2):c.274G>T (p.Gly92Cys)
NM_005027.4(PIK3R2):c.280C>T (p.Arg94Cys)
NM_005027.4(PIK3R2):c.292G>A (p.Ala98Thr)
NM_005027.4(PIK3R2):c.31G>T (p.Ala11Ser)
NM_005027.4(PIK3R2):c.328A>G (p.Thr110Ala)
NM_005027.4(PIK3R2):c.329C>G (p.Thr110Arg)
NM_005027.4(PIK3R2):c.346G>A (p.Glu116Lys)
NM_005027.4(PIK3R2):c.459_460delinsAG (p.Arg154Gly)
NM_005027.4(PIK3R2):c.46C>G (p.Arg16Gly)
NM_005027.4(PIK3R2):c.565G>A (p.Glu189Lys)
NM_005027.4(PIK3R2):c.571_572inv (p.Ser191Glu)
NM_005027.4(PIK3R2):c.595C>T (p.Arg199Trp)
NM_005027.4(PIK3R2):c.598+12G>A
NM_005027.4(PIK3R2):c.695T>G (p.Val232Gly) rs2147950675
NM_005027.4(PIK3R2):c.721C>A (p.Pro241Thr) rs1168878327
NM_005027.4(PIK3R2):c.766_783dup (p.Pro261_Ser262insArgAlaProProProPro)
NM_005027.4(PIK3R2):c.772CCG[3] (p.Pro261del) rs1173823214
NM_005027.4(PIK3R2):c.778C>T (p.Pro260Ser)
NM_005027.4(PIK3R2):c.780_797dup (p.Pro266_Gly267insProSerSerProProPro)
NM_005027.4(PIK3R2):c.783_785dup (p.Ser263_Pro264insSer)
NM_005027.4(PIK3R2):c.783_797dup (p.Pro266_Gly267insSerSerProProPro)
NM_005027.4(PIK3R2):c.827G>A (p.Ser276Asn)
NM_005027.4(PIK3R2):c.82G>A (p.Gly28Ser) rs112165780
NM_005027.4(PIK3R2):c.877G>A (p.Glu293Lys)
NM_005027.4(PIK3R2):c.937T>G (p.Ser313Ala)
NM_005027.4(PIK3R2):c.949G>A (p.Ala317Thr)
NM_005027.4(PIK3R2):c.965C>T (p.Pro322Leu)
NM_005465.7(AKT3):c.1251+5G>T rs780490457
NM_005465.7(AKT3):c.1258C>T (p.Pro420Ser)
NM_005465.7(AKT3):c.1271C>T (p.Pro424Leu)
NM_005465.7(AKT3):c.1276G>C (p.Val426Leu) rs868556430
NM_005465.7(AKT3):c.1397C>T (p.Pro466Leu) rs1669592664
NM_005465.7(AKT3):c.224G>A (p.Arg75Lys) rs1553428545
NM_005465.7(AKT3):c.238A>T (p.Thr80Ser) rs1682656371
NM_005465.7(AKT3):c.359G>A (p.Ser120Asn)
NM_005465.7(AKT3):c.364A>C (p.Thr122Pro)
NM_005465.7(AKT3):c.365C>G (p.Thr122Ser)
NM_005465.7(AKT3):c.404C>T (p.Ala135Val)
NM_005465.7(AKT3):c.526A>G (p.Met176Val)
NM_005465.7(AKT3):c.548T>C (p.Val183Ala)
NM_005465.7(AKT3):c.658C>T (p.Arg220Cys)
NM_005465.7(AKT3):c.682G>A (p.Val228Ile) rs1678068695
NM_005465.7(AKT3):c.752A>G (p.Tyr251Cys) rs766197531
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_005465.7(AKT3):c.948+3A>G rs2148488034
NM_014846.4(WASHC5):c.1037AAG[1] (p.Glu347del) rs764020658
NM_014846.4(WASHC5):c.1060A>G (p.Met354Val)
NM_014846.4(WASHC5):c.1121G>A (p.Arg374Gln)
NM_014846.4(WASHC5):c.113C>G (p.Ala38Gly)
NM_014846.4(WASHC5):c.1163A>G (p.Asn388Ser)
NM_014846.4(WASHC5):c.1166A>G (p.Asn389Ser)
NM_014846.4(WASHC5):c.1172G>A (p.Arg391His)
NM_014846.4(WASHC5):c.1188G>C (p.Lys396Asn)
NM_014846.4(WASHC5):c.1205A>G (p.Asp402Gly)
NM_014846.4(WASHC5):c.1378G>T (p.Val460Leu)
NM_014846.4(WASHC5):c.1481C>T (p.Ala494Val)
NM_014846.4(WASHC5):c.1504A>T (p.Ile502Leu)
NM_014846.4(WASHC5):c.1543G>C (p.Glu515Gln)
NM_014846.4(WASHC5):c.1557A>G (p.Gln519=) rs1374104992
NM_014846.4(WASHC5):c.1580C>T (p.Thr527Ile)
NM_014846.4(WASHC5):c.1688+5T>G
NM_014846.4(WASHC5):c.1705C>G (p.Gln569Glu) rs1816510758
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly) rs761801345
NM_014846.4(WASHC5):c.1749A>C (p.Arg583Ser)
NM_014846.4(WASHC5):c.1850G>T (p.Gly617Val)
NM_014846.4(WASHC5):c.186+3A>G
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) rs1816420898
NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu) rs1586359734
NM_014846.4(WASHC5):c.1901T>A (p.Met634Lys) rs768146940
NM_014846.4(WASHC5):c.193G>A (p.Glu65Lys)
NM_014846.4(WASHC5):c.1948A>G (p.Ile650Val) rs1188960621
NM_014846.4(WASHC5):c.1960A>G (p.Thr654Ala)
NM_014846.4(WASHC5):c.1963C>T (p.Arg655Cys)
NM_014846.4(WASHC5):c.1972A>G (p.Lys658Glu)
NM_014846.4(WASHC5):c.1991A>C (p.Tyr664Ser)
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val) rs763639768
NM_014846.4(WASHC5):c.2014G>A (p.Glu672Lys)
NM_014846.4(WASHC5):c.2090TCA[1] (p.Ile698del) rs1554593551
NM_014846.4(WASHC5):c.2097+3A>G
NM_014846.4(WASHC5):c.2098-5C>G
NM_014846.4(WASHC5):c.2098G>A (p.Val700Met) rs777613204
NM_014846.4(WASHC5):c.2137G>A (p.Glu713Lys) rs878854987
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val) rs1586352875
NM_014846.4(WASHC5):c.2199+15_2199+16delinsTG
NM_014846.4(WASHC5):c.2255A>G (p.His752Arg)
NM_014846.4(WASHC5):c.2273T>C (p.Ile758Thr)
NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala) rs1419129064
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met) rs780468544
NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn) rs140742485
NM_014846.4(WASHC5):c.2468G>A (p.Arg823Gln)
NM_014846.4(WASHC5):c.2504+5G>A
NM_014846.4(WASHC5):c.2506A>G (p.Met836Val) rs2130023977
NM_014846.4(WASHC5):c.2521G>C (p.Asp841His) rs2130023882
NM_014846.4(WASHC5):c.2545A>G (p.Met849Val) rs1355658998
NM_014846.4(WASHC5):c.2566A>G (p.Thr856Ala)
NM_014846.4(WASHC5):c.2572A>G (p.Ser858Gly)
NM_014846.4(WASHC5):c.2635C>A (p.Leu879Ile)
NM_014846.4(WASHC5):c.2647A>G (p.Met883Val)
NM_014846.4(WASHC5):c.2654T>C (p.Val885Ala)
NM_014846.4(WASHC5):c.265A>G (p.Ile89Val)
NM_014846.4(WASHC5):c.2671T>G (p.Phe891Val)
NM_014846.4(WASHC5):c.26A>G (p.Asn9Ser)
NM_014846.4(WASHC5):c.2711C>T (p.Thr904Ile)
NM_014846.4(WASHC5):c.2734C>T (p.Leu912Phe)
NM_014846.4(WASHC5):c.2770+6T>C rs2130019658
NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser) rs1815970512
NM_014846.4(WASHC5):c.2794T>A (p.Ser932Thr)
NM_014846.4(WASHC5):c.2833C>G (p.Leu945Val)
NM_014846.4(WASHC5):c.2842A>G (p.Ile948Val)
NM_014846.4(WASHC5):c.2860A>T (p.Met954Leu)
NM_014846.4(WASHC5):c.292G>T (p.Ala98Ser)
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val) rs1554591077
NM_014846.4(WASHC5):c.2973T>G (p.Ile991Met)
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys) rs767608029
NM_014846.4(WASHC5):c.3129C>G (p.Asn1043Lys)
NM_014846.4(WASHC5):c.3146C>T (p.Ala1049Val)
NM_014846.4(WASHC5):c.3182-16A>G
NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu) rs149383757
NM_014846.4(WASHC5):c.3202A>T (p.Thr1068Ser) rs2129964066
NM_014846.4(WASHC5):c.3205G>A (p.Asp1069Asn)
NM_014846.4(WASHC5):c.3207C>A (p.Asp1069Glu)
NM_014846.4(WASHC5):c.3209C>T (p.Pro1070Leu)
NM_014846.4(WASHC5):c.3214G>A (p.Asp1072Asn)
NM_014846.4(WASHC5):c.3217T>C (p.Trp1073Arg)
NM_014846.4(WASHC5):c.332+4T>C
NM_014846.4(WASHC5):c.3328T>C (p.Cys1110Arg)
NM_014846.4(WASHC5):c.3335+5A>C rs1815562338
NM_014846.4(WASHC5):c.3335G>A (p.Ser1112Asn) rs1324512839
NM_014846.4(WASHC5):c.3400C>T (p.Arg1134Trp)
NM_014846.4(WASHC5):c.3450C>G (p.Phe1150Leu)
NM_014846.4(WASHC5):c.350A>G (p.Asn117Ser)
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg) rs1563636568
NM_014846.4(WASHC5):c.417+9T>G
NM_014846.4(WASHC5):c.420T>G (p.Cys140Trp)
NM_014846.4(WASHC5):c.445A>G (p.Met149Val) rs1817270519
NM_014846.4(WASHC5):c.50G>C (p.Arg17Thr)
NM_014846.4(WASHC5):c.518+13T>C
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter) rs1362286755
NM_014846.4(WASHC5):c.541T>A (p.Ser181Thr) rs1817146560
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln) rs1586384678
NM_014846.4(WASHC5):c.656A>G (p.Glu219Gly)
NM_014846.4(WASHC5):c.672G>T (p.Met224Ile)
NM_014846.4(WASHC5):c.683G>A (p.Arg228Gln)
NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys) rs1817137048
NM_014846.4(WASHC5):c.733G>C (p.Glu245Gln)
NM_014846.4(WASHC5):c.778G>A (p.Val260Met)
NM_014846.4(WASHC5):c.786C>T (p.Leu262=)
NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser) rs1020805660
NM_014846.4(WASHC5):c.880A>C (p.Met294Leu) rs755946575
NM_014846.4(WASHC5):c.880A>G (p.Met294Val)
NM_014846.4(WASHC5):c.925G>A (p.Ala309Thr)
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met)
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg) rs1206102625
NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys)
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg) rs982781639
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys)
NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser)
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro) rs200742071
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His)
NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala)
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr) rs1432135827
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
NM_015631.6(TCTN3):c.1203+5C>T rs2139739478
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe) rs1008019391
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr) rs2139738439
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly) rs2139738378
NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr) rs2139738242
NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe) rs2139737228
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile)
NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro) rs1218187792
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
NM_015631.6(TCTN3):c.1417T>C (p.Trp473Arg) rs2097944204
NM_015631.6(TCTN3):c.1421C>G (p.Thr474Ser) rs1190331074
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
NM_015631.6(TCTN3):c.1451C>T (p.Ser484Leu) rs2139736784
NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys) rs2097942057
NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs) rs1454064691
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro) rs765803620
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg) rs1165507491
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr) rs143735885
NM_015631.6(TCTN3):c.1647del (p.Thr550fs) rs2139691832
NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter) rs2139691743
NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys) rs1352225292
NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu) rs1566062590
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys) rs927310199
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg) rs1291662541
NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro)
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)
NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile) rs2097955954
NM_015631.6(TCTN3):c.245A>T (p.Asp82Val) rs2139768503
NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu) rs2139767336
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr) rs2139767280
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
NM_015631.6(TCTN3):c.361T>G (p.Cys121Gly) rs2139767099
NM_015631.6(TCTN3):c.362G>C (p.Cys121Ser) rs1165732615
NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)
NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg) rs1005806916
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg) rs533262975
NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu) rs1489817091
NM_015631.6(TCTN3):c.455T>C (p.Met152Thr) rs2139764940
NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala) rs1314557393
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn) rs2139769650
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val) rs888815068
NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu) rs2139750466
NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)
NM_015631.6(TCTN3):c.627+6C>G
NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu) rs1406986953
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) rs1555270274
NM_015631.6(TCTN3):c.735A>G (p.Ala245=) rs2097949239
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser) rs780304630
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala)
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu) rs2139748562
NM_015631.6(TCTN3):c.852+4G>A rs2139748541
NM_015631.6(TCTN3):c.853-11T>C
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu) rs2139747266
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
NM_015631.6(TCTN3):c.888+3A>T
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile) rs1024201294
NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)
NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys) rs745387147
NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu) rs1267152740
NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu) rs372128042
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser) rs549030188
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe) rs749691951
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser) rs1404319370
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
NM_016042.4(EXOSC3):c.347A>G (p.His116Arg)
NM_016042.4(EXOSC3):c.352A>G (p.Ile118Val)
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met) rs145622193
NM_016042.4(EXOSC3):c.368C>G (p.Ala123Gly) rs2118980284
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln) rs373193552
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg) rs1828647523
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val) rs754046728
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val) rs140199968
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr) rs2118975671
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser) rs561283125
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu) rs767942736
NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)
NM_016042.4(EXOSC3):c.7G>A (p.Glu3Lys)
NM_016042.4(EXOSC3):c.808_810del (p.Ser270del) rs755175121
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs) rs1828567719
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_022836.4(DCLRE1B):c.10G>A (p.Val4Ile) rs1437958560
NM_022836.4(DCLRE1B):c.111C>A (p.Thr37=) rs757534089
NM_022836.4(DCLRE1B):c.1339A>T (p.Thr447Ser) rs1038661281
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs) rs779442399
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg) rs1558110707
NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro) rs1668897682
NM_022836.4(DCLRE1B):c.190-3C>G rs1242019671
NM_022836.4(DCLRE1B):c.226G>C (p.Glu76Gln) rs776471212
NM_022836.4(DCLRE1B):c.253A>G (p.Ile85Val) rs761321321
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile) rs755192360
NM_022836.4(DCLRE1B):c.341C>G (p.Thr114Ser) rs2101068175
NM_022836.4(DCLRE1B):c.377C>T (p.Ser126Phe) rs1339289910
NM_022836.4(DCLRE1B):c.41A>G (p.Asp14Gly) rs1333588223
NM_022836.4(DCLRE1B):c.447C>G (p.Cys149Trp) rs369389853
NM_022836.4(DCLRE1B):c.508C>T (p.Arg170Ter) rs138603501
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg) rs1553260999
NM_022836.4(DCLRE1B):c.78CTT[2] (p.Phe28del) rs763030449
NM_022836.4(DCLRE1B):c.833C>T (p.Ser278Phe) rs946912356
NM_022836.4(DCLRE1B):c.879G>C (p.Gln293His) rs772803140
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg) rs754841219
NM_022914.2(ACD):c.100C>G (p.Arg34Gly)
NM_022914.2(ACD):c.101G>C (p.Arg34Pro)
NM_022914.2(ACD):c.109C>A (p.Arg37Ser)
NM_022914.2(ACD):c.118G>A (p.Ala40Thr)
NM_022914.2(ACD):c.11G>A (p.Arg4His)
NM_022914.2(ACD):c.125C>T (p.Ala42Val)
NM_022914.2(ACD):c.133G>A (p.Val45Ile)
NM_022914.2(ACD):c.133G>T (p.Val45Leu)
NM_022914.2(ACD):c.139delG (p.Arg48Glyfs) rs764120026
NM_022914.2(ACD):c.147_149CCT[4] (p.Leu52_Arg53insLeu)
NM_022914.2(ACD):c.14G>A (p.Cys5Tyr) rs1555542868
NM_022914.2(ACD):c.155delT (p.Leu52Profs)
NM_022914.2(ACD):c.17dup (p.Ser7Glufs)
NM_022914.2(ACD):c.184C>T (p.Leu62Phe)
NM_022914.2(ACD):c.188C>G (p.Pro63Arg)
NM_022914.2(ACD):c.199G>A (p.Gly67Arg)
NM_022914.2(ACD):c.209C>T (p.Ala70Val) rs758189246
NM_022914.2(ACD):c.214G>C (p.Ala72Pro)
NM_022914.2(ACD):c.29C>G (p.Ala10Gly)
NM_022914.2(ACD):c.53C>T (p.Ser18Phe)
NM_022914.2(ACD):c.60_72delACCAGCGGGGTGG (p.Trp24Valfs) rs757084527
NM_022914.2(ACD):c.64G>C (p.Ala22Pro)
NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs)
NM_022914.2(ACD):c.71G>A (p.Trp24Ter)
NM_022914.2(ACD):c.71_72invGG (p.Trp24Ser)
NM_022914.2(ACD):c.86T>A (p.Leu29Gln)
NM_022914.2(ACD):c.96dup (p.Arg34Profs)
NM_022914.2(ACD):c.98C>A (p.Pro33His)
Single allele

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