ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 985
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) rs1004428835 0.00037
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_018136.5(ASPM):c.9294+2T>C rs199503603 0.00014
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter) rs144744629 0.00011
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg) rs373479905 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) rs397508272 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_033028.5(BBS4):c.1440dup (p.Leu481fs) rs780269741 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp) rs778769841 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518 0.00004
NM_000277.3(PAH):c.1238G>A (p.Arg413His) rs79931499 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001082538.3(TCTN1):c.712+1G>A rs200863258 0.00004
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00004
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_025074.7(FRAS1):c.4843+2T>C rs370018000 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu) rs760831781 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) rs184148104 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg) rs757483045 0.00003
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919 0.00003
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter) rs779260568 0.00003
NM_001378454.1(ALMS1):c.11669-2A>G rs952110960 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter) rs904572688 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014875.3(KIF14):c.3661+1G>T rs151249558 0.00003
NM_015272.5(RPGRIP1L):c.2874+1G>C rs753075262 0.00003
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) rs771720649 0.00003
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003 0.00003
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NR_003051.3(RMRP):n.-14_-2dup13 rs1554651400 0.00003
NR_003051.3(RMRP):n.-20_1dup rs1563907710 0.00003
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp) rs1346436537 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000320.3(QDPR):c.1A>T (p.Met1Leu) rs1034528249 0.00002
NM_000360.4(TH):c.1189G>A (p.Gly397Arg) rs1264884607 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_001044385.3(TMEM237):c.553+1G>A rs80034299 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835 0.00002
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys) rs763992407 0.00002
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539 0.00002
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter) rs753535530 0.00002
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NR_003051.3(RMRP):n.-24_-12dup rs781730798 0.00002
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter) rs748425041 0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000057.4(BLM):c.3020-258A>G rs1301751251 0.00001
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) rs370657735 0.00001
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000231.3(SGCG):c.385+2T>C rs200206447 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln) rs534280005 0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000277.3(PAH):c.1200-1G>A rs62507322 0.00001
NM_000277.3(PAH):c.1259G>T (p.Arg420Met) rs767075719 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.241A>C (p.Thr81Pro) rs62509017 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.632C>A (p.Pro211Gln) rs281865443 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.982A>G (p.Thr328Ala) rs199475616 0.00001
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.1233+1G>A rs763459576 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000317.3(PTS):c.104A>G (p.Glu35Gly) rs1328320990 0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298 0.00001
NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His) rs768290318 0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys) rs397508533 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.4243-2A>G rs397508705 0.00001
NM_000492.4(CFTR):c.4252del (p.Glu1418fs) rs1554397750 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter) rs1554934212 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) rs149644940 0.00001
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) rs888691362 0.00001
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) rs1553129892 0.00001
NM_001048174.2(MUTYH):c.470G>A (p.Arg157Gln) rs533899702 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001077365.2(POMT1):c.699+68T>C rs759254028 0.00001
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter) rs774844858 0.00001
NM_001127649.3(PEX26):c.667+2T>C rs267608191 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter) rs1553420848 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 0.00001
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter) rs1194329020 0.00001
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His) rs137853000 0.00001
NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met) rs768140716 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001367624.2(ZNF469):c.10707C>A (p.Cys3569Ter) rs760186083 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter) rs1554117456 0.00001
NM_001386140.1(MTTP):c.1949del (p.Ile650fs) rs1725952378 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) rs61750434 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter) rs769471341 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter) rs1251881194 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro) rs759300846 0.00001
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter) rs774318019 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter) rs751444506 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814 0.00001
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter) rs2077134911 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_020964.3(EPG5):c.1A>G (p.Met1Val) rs1135402732 0.00001
NM_024570.4(RNASEH2B):c.698+1G>A rs367915667 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_032119.4(ADGRV1):c.9749-2del rs1751549898 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749 0.00001
NM_138694.4(PKHD1):c.1964+1G>T rs1385712943 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.53-1G>A rs775511838 0.00001
NM_138694.4(PKHD1):c.8554+1G>A rs1790925351 0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336 0.00001
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897 0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) rs1007848349 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg) rs1380661508 0.00001
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) rs775177930 0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) rs751479180 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361 0.00001
NM_206933.4(USH2A):c.7300+1G>C rs1343780391 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter) rs767978562 0.00001
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-21_-2dup rs1554651403 0.00001
NR_003051.3(RMRP):n.-22_-14dup rs1563908167 0.00001
NR_003051.3(RMRP):n.-22_-15dupTACTCTGT rs1563908212 0.00001
NR_003051.3(RMRP):n.-22_-4dup rs1554651427 0.00001
NR_003051.3(RMRP):n.-3_1dupCGTG rs1554651381 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del
NC_000002.11:g.(170034537_170037957)_(170072941_170076963)del
NC_000002.11:g.(71748035_71753349)_(71766370_71776479)dup
NC_000002.11:g.(73786270_73799388)_(73800552_73826527)del
NC_000002.11:g.(?_110880912)_(110886837_110889255)del
NC_000002.11:g.(?_71680752)_(71681217_71708012)del
NC_000003.11:g.(132438675_132440806)_132441126del
NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del
NC_000003.11:g.(97483822_97485475)_(97487075_97499002)del
NC_000003.11:g.(97487075_97499002)_(97499065_97499458)dup
NC_000003.11:g.93714775_(93722753_93754174)del
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
NC_000004.11:g.(17506099_17510893)_(17513858_?)del
NC_000004.11:g.(79362452_79366675)_(79366867_79367880)del
NC_000004.11:g.(93511438_94006145)_(94006431_94031898)del
NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
NC_000005.9:g.(60200701_60214091)_(60240906_?)del
NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del
NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del
NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup
NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del
NC_000005.9:g.(?_60169658)_(60183348_60186715)del
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
NC_000006.11:g.(51514019_51523749)_(51524768_51609182)del
NC_000006.11:g.(51712769_51720690)_(51777375_51798907)dup
NC_000006.11:g.(51752044_51768394)_(51774273_51776596)del
NC_000006.11:g.(51924841_51927316)_(51927459_51929752)del
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)dup
NC_000007.13:g.(117144418_117149087)_(117149197_117170952)dup
NC_000007.13:g.(117149197_117170952)_(117243837_117246727)dup
NC_000007.13:g.(117171169_117174329)_(117174420_117175301)del
NC_000007.13:g.(117174420_117175301)_(117175466_117176601)dup
NC_000007.13:g.(117176728_117180153)_(117180401_117182069)dup
NC_000007.13:g.(117180401_117182069)_(117182163_117188694)del
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)dup
NC_000007.13:g.(117230494_117231987)_(117232712_117234983)dup
NC_000007.13:g.(117235113_117242879)_(117242918_117243585)dup
NC_000007.13:g.(117242918_117243585)_(117243837_117246727)dup
NC_000007.13:g.(117243837_117246727)_(117246808_117250572)dup
NC_000007.13:g.(117246808_117250572)_(117250724_117251634)dup
NC_000007.13:g.(117251863_117254666)_(117254768_117267575)dup
NC_000007.13:g.(117254768_117267575)_(117267825_117282491)dup
NC_000007.13:g.(117292986_117304741)_(117304915_117305512)dup
NC_000007.13:g.(117304915_117305512)_(117305619_117306961)dup
NC_000007.13:g.(33376235_33380508)_(33380586_33384192)del
NC_000007.13:g.(33427757_33545074)_(33573789_33644476)del
NC_000007.13:g.(?_117120016)_(117120202_117144306)del
NC_000008.10:g.(31007972_31012139)_(31031278_?)del
NC_000009.11:g.(134388719_134390812)_(134399194_?)del
NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3] rs1563907859
NC_000009.12:g.35658022_35658032dup rs1554651425
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3] rs727502778
NC_000009.12:g.35658023_35658038dup rs1823637651
NC_000009.12:g.35658024_35658038dup
NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA rs2131809783
NC_000009.12:g.35658025_35658039dup rs1823639713
NC_000009.12:g.35658026_35658032dup rs2131809964
NC_000009.12:g.35658026_35658037dup rs2131809978
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
NC_000010.10:g.(50669603_50678227)_(50684357_50686399)dup
NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
NC_000010.10:g.(73454017_73455174)_73468962del
NC_000010.10:g.(?_55580859)_(55591294_55600079)del
NC_000011.9:g.(22272558_22276916)_(22284590_22291857)del
NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
NC_000012.11:g.(124189236_124191272)_(124192951_?)del
NC_000012.11:g.(?_124155659)_(124184358_124189078)del
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
NC_000018.9:g.(21131692_21134721)_(21141492_21148786)dup
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622
NM_000019.4(ACAT1):c.238+2T>C
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.85dup (p.His29fs)
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
NM_000057.4(BLM):c.2406+2T>G rs367543016
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del) rs746075428
NM_000070.3(CAPN3):c.545T>A (p.Leu182Gln) rs2141164715
NM_000070.3(CAPN3):c.779C>T (p.Ser260Phe)
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del) rs2112491212
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) rs1027814542
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg)
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg)
NM_000091.5(COL4A3):c.3211-1G>C rs1553762936
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala)
NM_000091.5(COL4A3):c.388-2A>G rs2069361375
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs) rs776244020
NM_000091.5(COL4A3):c.610-1G>A
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter) rs2125934541
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg)
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000123.4(ERCC5):c.1068del (p.Ser357fs) rs1325131028
NM_000123.4(ERCC5):c.2705del (p.Asn902fs)
NM_000124.4(ERCC6):c.1738C>T (p.Gln580Ter)
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs) rs1590406503
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs) rs2132639937
NM_000124.4(ERCC6):c.4146del (p.Leu1384fs)
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs) rs1272960343
NM_000231.3(SGCG):c.386-2A>G rs886042757
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs) rs751375381
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln) rs1555634422
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
NM_000271.5(NPC1):c.3243_3755-94del
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs) rs2145351244
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3485G>C (p.Gly1162Ala) rs1194990534
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
NM_000271.5(NPC1):c.464-2A>C rs2145485704
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.955+1G>A
NM_000271.5(NPC1):c.99_100del (p.Ala34fs) rs2059233076
NM_000277.3(PAH):c.1099del (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) rs199475641
NM_000277.3(PAH):c.183C>A (p.Asn61Lys) rs199475634
NM_000277.3(PAH):c.199T>C (p.Ser67Pro) rs5030842
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
NM_000277.3(PAH):c.226G>T (p.Glu76Ter) rs762949770
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) rs199475680
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.722G>T (p.Arg241Leu) rs62508730
NM_000277.3(PAH):c.890G>T (p.Arg297Leu) rs62642939
NM_000286.3(PEX12):c.445_454del (p.Ser149fs) rs1567730901
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter) rs61753215
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter) rs2115170536
NM_000288.4(PEX7):c.418-1G>A rs773406384
NM_000302.4(PLOD1):c.1585-2A>G
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.187-2A>G rs2135409169
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) rs61752119
NM_000318.3(PEX2):c.352del (p.Glu118fs)
NM_000320.3(QDPR):c.516del (p.Ala175fs)
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.644-2A>G
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
NM_000360.4(TH):c.1200+2T>C rs2133690169
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.983G>T (p.Cys328Phe) rs121917765
NM_000370.3(TTPA):c.339del (p.Val114fs) rs1563363293
NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)
NM_000382.3(ALDH3A2):c.1108-1G>T rs1036733598
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
NM_000382.3(ALDH3A2):c.680+1G>A
NM_000382.3(ALDH3A2):c.681-1G>A
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1231G>A (p.Ala411Thr)
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp) rs1791675770
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) rs984967571
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.765+3A>T rs483353048
NM_000466.3(PEX1):c.129+1G>A rs2116298327
NM_000466.3(PEX1):c.130-2A>T rs1585260993
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs) rs1792596054
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.249_250insT (p.Leu84fs) rs1793076195
NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs) rs2116095487
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000492.3(CFTR):c.[2816A>G;2846A>T]
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) rs2115882158
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter) rs193922498
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1333_1336del (p.Asn445fs) rs749854099
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.4(CFTR):c.1801del (p.Ile601fs) rs1792031758
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs) rs1584812217
NM_000492.4(CFTR):c.1970del (p.Arg657fs) rs2116030992
NM_000492.4(CFTR):c.1973del (p.Arg658fs)
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.4(CFTR):c.217del (p.Leu73fs) rs397508348
NM_000492.4(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter) rs1792051187
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.273G>C (p.Gly91=) rs773739166
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp) rs193922509
NM_000492.4(CFTR):c.2816A>G (p.His939Arg) rs397508440
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.4(CFTR):c.2982_2988+2del rs1554391489
NM_000492.4(CFTR):c.2989-2A>T rs193922515
NM_000492.4(CFTR):c.2993del (p.Leu998fs) rs1057516415
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs) rs1792366769
NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr) rs1584821736
NM_000492.4(CFTR):c.3140-11A>G
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.4(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg) rs193922519
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val) rs267606723
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup) rs193922521
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3874-2A>C rs1554396384
NM_000492.4(CFTR):c.3874-2A>G rs1554396384
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.3957_3958insAGGG (p.Asp1320fs) rs193922523
NM_000492.4(CFTR):c.396del (p.Ile132fs) rs1798854379
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp) rs193922524
NM_000492.4(CFTR):c.4046del (p.Gly1349fs) rs1793342111
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.4242+2T>C rs193922526
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr) rs193922528
NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.4(CFTR):c.489+2T>C rs397508732
NM_000492.4(CFTR):c.489+43_580-354del
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.4(CFTR):c.662del (p.Ala221fs) rs2116676645
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.744-9_744-2delinsTACG
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.930del (p.Phe311fs) rs1584789226
NM_000492.4(CFTR):c.941G>T (p.Gly314Val) rs75763344
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000553.6(WRN):c.654+2T>C
NM_000553.6(WRN):c.96+1G>T
NM_000782.5(CYP24A1):c.233_234delinsC (p.Gly78fs)
NM_000784.4(CYP27A1):c.108del (p.Ser37fs)
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.58del (p.Leu20fs) rs2106479076
NM_001017420.3(ESCO2):c.845_848del (p.Lys282fs)
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter) rs1555439013
NM_001040616.3(LINS1):c.631+1G>A
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter) rs2105899200
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
NM_001048166.1(STIL):c.384dup (p.His129fs) rs2149199098
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) rs1060501335
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) rs376790729
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) rs587781295
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer) rs1553129062
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.867_868del (p.Leu290fs) rs2149134563
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs) rs1950265792
NM_001077365.2(POMT1):c.314G>A (p.Arg105His) rs1554772469
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
NM_001077418.3(TMEM231):c.438+1G>C rs1415483600
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro) rs397514754
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs) rs1566003392
NM_001082538.3(TCTN1):c.1494+2T>C
NM_001083961.2(WDR62):c.269+1G>T
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs) rs1286660951
NM_001122769.3(LCA5):c.550del (p.Ala184fs) rs2127680021
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter) rs1556586479
NM_001127671.2(LIFR):c.254del (p.Asn85fs) rs886041545
NM_001128178.3(NPHP1):c.1083+1G>A
NM_001128178.3(NPHP1):c.144-1G>A
NM_001128425.2(MUTYH):c.200del (p.Gly67fs) rs746449748
NM_001128431.4(SLC39A14):c.628-2A>G
NM_001130987.2(DYSF):c.1149+5G>A rs1023002894
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) rs576130413
NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs) rs2152940961
NM_001130987.2(DYSF):c.5885-1G>A
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001134793.2(HYLS1):c.268C>T (p.Arg90Ter)
NM_001134793.2(HYLS1):c.523G>T (p.Glu175Ter) rs1482689330
NM_001134831.2(AHI1):c.1671del (p.Gly558fs) rs2128056526
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.917del (p.Lys306fs) rs1181159671
NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
NM_001173976.2(TCTN1):c.1011-2_1012del
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
NM_001174150.2(ARL13B):c.59+1G>A
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
NM_001199563.2(BVES):c.518dup (p.Ser174fs)
NM_001244189.1(KIAA0586):c.2602_2612del11
NM_001267550.2(TTN):c.100766-1G>T
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter) rs2154198430
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
NM_001292063.2(OTOG):c.5926del (p.Gln1976fs)
NM_001329943.3(KIAA0586):c.1362+2T>C rs901508284
NM_001351132.2(PEX5):c.846+1G>A
NM_001366722.1(GRIP1):c.10_13del (p.Val4fs)
NM_001367624.2(ZNF469):c.10332del (p.Arg3445fs) rs764470052
NM_001367624.2(ZNF469):c.4112dup (p.Pro1373fs)
NM_001367624.2(ZNF469):c.5402del (p.Val1801fs)
NM_001367624.2(ZNF469):c.5613_5622del (p.Arg1871fs)
NM_001367624.2(ZNF469):c.7874_7877dup (p.His2626fs)
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter) rs1172315984
NM_001367624.2(ZNF469):c.8428del (p.Ala2810fs) rs2142312393
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter) rs764139968
NM_001378454.1(ALMS1):c.11547+3A>T rs1271250182
NM_001378454.1(ALMS1):c.11632C>T (p.Gln3878Ter) rs1675625092
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_001378454.1(ALMS1):c.1966G>T (p.Glu656Ter) rs773971557
NM_001378454.1(ALMS1):c.281del (p.Pro94fs) rs2104060044
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs) rs2103785778
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9782-1269_9859del
NM_001378454.1(ALMS1):c.9782-1271_9845del
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs) rs2133664431
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384732.1(CPLANE1):c.1122-2A>G
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs) rs926409425
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
NM_001384732.1(CPLANE1):c.7234-2_7234del
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_001692.4(ATP6V1B1):c.1002_1004delinsTG (p.Val335fs)
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs) rs1553416787
NM_001692.4(ATP6V1B1):c.285del (p.Thr96fs)
NM_001692.4(ATP6V1B1):c.448C>T (p.Gln150Ter)
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
NM_002335.4(LRP5):c.1067C>T (p.Ser356Leu) rs1158745675
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs) rs1554558449
NM_002485.5(NBN):c.2071-1G>A rs786201965
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.737del (p.Gly246fs) rs1811464751
NM_002485.5(NBN):c.803del (p.Thr268fs)
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
NM_002617.4(PEX10):c.335_338del (p.Pro112fs) rs2100429450
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_002617.4(PEX10):c.587del (p.Thr196fs)
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002617.4(PEX10):c.868dup (p.His290fs)
NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs) rs1221107969
NM_003322.6(TULP1):c.241_249delinsC (p.Ala81fs)
NM_003383.5(VLDLR):c.2252-2A>C
NM_003383.5(VLDLR):c.325+1G>A
NM_003630.3(PEX3):c.331+1G>C
NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)
NM_003846.3(PEX11B):c.275del (p.Asn92fs)
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004525.3(LRP2):c.2006del (p.Gly669fs)
NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)
NM_005529.7(HSPG2):c.12900-2A>G
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006432.5(NPC2):c.279dup (p.Lys94Ter) rs1376058648
NM_006432.5(NPC2):c.3G>C (p.Met1Ile) rs483352893
NM_006618.5(KDM5B):c.2945+1G>A rs2102232815
NM_006642.5(SDCCAG8):c.1356+1G>C rs2147782314
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)
NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg)
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012210.4(TRIM32):c.73G>T (p.Glu25Ter)
NM_013382.7(POMT2):c.785G>A (p.Trp262Ter)
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
NM_014168.4(METTL5):c.541+1G>C rs1467526653
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter) rs1208703297
NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs) rs2137577962
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer) rs2137569225
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs) rs1057516406
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) rs1057516779
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs)
NM_014363.6(SACS):c.520G>T (p.Glu174Ter) rs2137742889
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.8790_8793del (p.Lys2930fs)
NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter) rs2137582138
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) rs751568153
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs) rs749829859
NM_014704.4(CEP104):c.1485+1G>A
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
NM_014704.4(CEP104):c.182del (p.Leu61fs)
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs) rs1189678912
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
NM_014780.5(CUL7):c.2398-2A>G
NM_014780.5(CUL7):c.3645+1G>A
NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del) rs1340929933
NM_014865.4(NCAPD2):c.2508del (p.Phe837fs) rs772347389
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
NM_014956.5(CEP164):c.3437del (p.Gln1146fs)
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) rs1553200990
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247
NM_015272.5(RPGRIP1L):c.529+1688_609del
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
NM_015311.3(OBSL1):c.427dup (p.Ala143fs)
NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs)
NM_015404.4(WHRN):c.375del (p.Ala126fs) rs751838091
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter) rs149846637
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015665.6(AAAS):c.810+1G>A
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
NM_016938.5(EFEMP2):c.-7-1_-7delinsAT
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_017414.4(USP18):c.891+1G>T
NM_017721.5(CC2D1A):c.61-2A>G
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter) rs868442196
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter) rs2125096196
NM_018249.6(CDK5RAP2):c.4414+1G>A
NM_018294.6(CWF19L1):c.1045-2A>C
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) rs777069665
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile) rs200244203
NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)
NM_018451.5(CENPJ):c.505_506del (p.Gln169fs)
NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter) rs755802156
NM_018699.4(PRDM5):c.1785_1786del (p.His595fs) rs1734381962
NM_018699.4(PRDM5):c.475+2T>C
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)
NM_018972.4(GDAP1):c.118-1G>A
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) rs1586804849
NM_019892.6(INPP5E):c.1224del (p.Ile409fs) rs2131608743
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter) rs2131605715
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2503_2510del (p.Pro835fs)
NM_020632.3(ATP6V0A4):c.2011-2A>T
NM_020632.3(ATP6V0A4):c.2139+1G>T
NM_020921.4(NIN):c.1966C>T (p.Gln656Ter)
NM_021942.6(TRAPPC11):c.2753dup (p.Leu918fs)
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_022124.6(CDH23):c.5067+1G>A
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) rs2132929769
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.8064+1G>A rs1474524543
NM_022124.6(CDH23):c.913del (p.Leu305fs) rs1393567447
NM_022124.6(CDH23):c.9278+2T>A
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro) rs727502842
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) rs1554496609
NM_024596.5(MCPH1):c.1978C>T (p.Gln660Ter)
NM_024596.5(MCPH1):c.2136+1G>T
NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter) rs2129580766
NM_024596.5(MCPH1):c.625_626del (p.Leu209fs)
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024685.4(BBS10):c.179T>G (p.Leu60Ter) rs2136091512
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.310_311del (p.Glu104fs) rs2136091244
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_025074.7(FRAS1):c.13A>T (p.Lys5Ter)
NM_025074.7(FRAS1):c.4623C>A (p.Tyr1541Ter)
NM_025074.7(FRAS1):c.604-1G>C
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_025074.7(FRAS1):c.7258-2A>G
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs) rs1964269329
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter) rs559473497
NM_032040.5(CCDC8):c.3G>A (p.Met1Ile)
NM_032040.5(CCDC8):c.4_22dup (p.Val8fs)
NM_032040.5(CCDC8):c.860del (p.Gln287fs) rs778999067
NM_032040.5(CCDC8):c.976del (p.Asp326fs)
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs) rs1758488956
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)
NM_032119.4(ADGRV1):c.16196+1G>T rs1326895760
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs) rs1764301206
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)
NM_032119.4(ADGRV1):c.2898+2T>C
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs) rs1554081619
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)
NM_033028.5(BBS4):c.1248+2T>C rs2151055229
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter) rs1554219429
NM_138694.4(PKHD1):c.126del (p.Phe42fs) rs760586271
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs) rs1554204054
NM_138694.4(PKHD1):c.3762_3763insG (p.Pro1255fs) rs1802132538
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.5065del (p.Met1689fs) rs1554198072
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser)
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs) rs1562140771
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter) rs1810710453
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter)
NM_138694.4(PKHD1):c.5776del (p.Arg1926fs) rs1791763088
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter) rs557437764
NM_138694.4(PKHD1):c.6809-2A>T rs1340926191
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
NM_138694.4(PKHD1):c.9913dup (p.Ile3305fs) rs1785246943
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) rs2140145502
NM_152443.3(RDH12):c.667G>T (p.Val223Phe) rs370015375
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.187_194del (p.Gly63fs) rs2108007892
NM_153240.5(NPHP3):c.1888-7_1893del rs1553773296
NM_153240.5(NPHP3):c.52del (p.Asp18fs) rs2108008280
NM_153704.6(TMEM67):c.1132-2A>G
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
NM_153704.6(TMEM67):c.223+1G>C
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter) rs1226851798
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
NM_183065.4(TMEM107):c.*696A>G rs779456932
NM_194248.3(OTOF):c.5534-2A>G rs1664440809
NM_194292.3(SASS6):c.497C>A (p.Ser166Ter)
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.703-1G>C
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter) rs1403618793
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs) rs2102661317
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs) rs2102636006
NM_206933.4(USH2A):c.14969-2A>G rs2102634730
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.1888del (p.Ala630fs) rs2102606427
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter) rs762167370
NM_206933.4(USH2A):c.4251+1del rs2102460236
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.651+1G>A rs1553257761
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.698del (p.Asp233fs)
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs) rs1667314337
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
NM_206933.4(USH2A):c.7862del (p.Pro2621fs) rs2102460381
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe) rs2037760521
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys) rs2037760415
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter) rs1662880811
NM_207361.6(FREM2):c.2833del (p.His945fs) rs759257554
NM_207361.6(FREM2):c.3761T>A (p.Leu1254Ter)
NM_207361.6(FREM2):c.6625dup (p.Tyr2209fs) rs2137911471
NM_207361.6(FREM2):c.8082dup (p.Asp2695Ter)
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC rs1554651486
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-13_-6dup rs1563907946
NR_003051.3(RMRP):n.-15_-6dup rs1554651447
NR_003051.3(RMRP):n.-15_-8dup rs1230629953
NR_003051.3(RMRP):n.-17_-3dup15 rs1823634410
NR_003051.3(RMRP):n.-17_-5dup13 rs1823637491
NR_003051.3(RMRP):n.-19_-18insTCTGTGAAGCTGGGGAC rs1823648167
NR_003051.3(RMRP):n.-19_-5dup rs1823637565
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-13dup rs1554651512
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-21_-4dup rs1563907881
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT rs751921616
NR_003051.3(RMRP):n.-22_-11dup rs1179735603
NR_003051.3(RMRP):n.-25_-6dup rs1554651445
NR_003051.3(RMRP):n.-27_-6dup22 rs1823638952
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG rs1554651451
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA rs1554651439
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA rs1823639598
NR_003051.4(RMRP):n.213C>G rs192060920

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