ClinVar Miner

List of variants reported as likely benign for hypogonadotropic hypogonadism by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2195
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330 0.00174
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672 0.00123
NM_012414.4(RAB3GAP2):c.938C>T (p.Thr313Ile) rs74139292 0.00104
NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser) rs138796052 0.00102
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806 0.00094
NM_025000.4(DCAF17):c.792T>C (p.Thr264=) rs199742600 0.00064
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
NM_012414.4(RAB3GAP2):c.1632-16A>G rs191799009 0.00058
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg) rs78488864 0.00057
NM_012414.4(RAB3GAP2):c.3525C>T (p.Thr1175=) rs145701892 0.00056
NM_012414.4(RAB3GAP2):c.2295C>T (p.Ser765=) rs143994202 0.00049
NM_012414.4(RAB3GAP2):c.173A>C (p.Gln58Pro) rs111859466 0.00047
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_000475.5(NR0B1):c.222A>G (p.Pro74=) rs1337374469 0.00046
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995 0.00045
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) rs150643803 0.00044
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=) rs137897304 0.00041
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_023110.3(FGFR1):c.177C>T (p.Asp59=) rs367880371 0.00037
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) rs181129823 0.00035
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) rs140094033 0.00035
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_012431.3(SEMA3E):c.999-12T>C rs373951907 0.00029
NM_017780.4(CHD7):c.3989+9C>T rs373206209 0.00029
NM_017780.4(CHD7):c.4014C>T (p.Gly1338=) rs188679907 0.00029
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157 0.00029
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_017780.4(CHD7):c.1737G>A (p.Gln579=) rs747922099 0.00024
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser) rs201470035 0.00024
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319 0.00023
NM_003865.3(HESX1):c.255G>A (p.Ser85=) rs146029258 0.00022
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234 0.00022
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln) rs202231211 0.00022
NM_012414.4(RAB3GAP2):c.2667T>G (p.Leu889=) rs145550355 0.00021
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00021
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) rs147482922 0.00021
NM_012414.4(RAB3GAP2):c.3337-6C>T rs137894782 0.00020
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=) rs371898908 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757 0.00019
NM_000061.3(BTK):c.1140A>G (p.Gln380=) rs782184877 0.00018
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) rs139407102 0.00016
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572 0.00016
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile) rs200779956 0.00016
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351 0.00016
NM_017780.4(CHD7):c.843A>G (p.Gln281=) rs764411605 0.00016
NM_000216.4(ANOS1):c.72G>A (p.Ala24=) rs764457546 0.00015
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972 0.00015
NM_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_000061.3(BTK):c.1239T>C (p.Phe413=) rs150990075 0.00014
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile) rs190791287 0.00014
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651 0.00014
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=) rs376173540 0.00014
NM_012414.4(RAB3GAP2):c.2212+15A>T rs375627012 0.00013
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg) rs151244742 0.00013
NM_012414.4(RAB3GAP2):c.812-6T>A rs575925720 0.00013
NM_012431.3(SEMA3E):c.1668-16A>G rs371322188 0.00013
NM_017780.4(CHD7):c.240G>A (p.Met80Ile) rs199675125 0.00013
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317 0.00013
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 0.00013
NM_017780.4(CHD7):c.5607+11G>A rs369304706 0.00013
NM_017780.4(CHD7):c.7119C>T (p.Ser2373=) rs201046385 0.00013
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=) rs375800664 0.00013
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) rs201574031 0.00013
NM_000216.4(ANOS1):c.1921G>A (p.Gly641Arg) rs375767556 0.00012
NM_012414.4(RAB3GAP2):c.465C>T (p.Cys155=) rs144263040 0.00012
NM_017780.4(CHD7):c.1245G>A (p.Pro415=) rs745900311 0.00012
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) rs377723386 0.00012
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=) rs534427466 0.00012
NM_023110.3(FGFR1):c.2186+8C>T rs372639138 0.00012
NM_025000.4(DCAF17):c.138A>G (p.Lys46=) rs191203387 0.00012
NM_012414.4(RAB3GAP2):c.960+13T>G rs202020014 0.00011
NM_017780.4(CHD7):c.2109T>G (p.Pro703=) rs192950146 0.00011
NM_017780.4(CHD7):c.4008C>T (p.Ile1336=) rs370471177 0.00011
NM_017780.4(CHD7):c.4146C>T (p.Ile1382=) rs372318215 0.00011
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=) rs368093874 0.00011
NM_017780.4(CHD7):c.8478C>T (p.Asn2826=) rs202076455 0.00011
NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn) rs562958780 0.00011
NM_023110.3(FGFR1):c.92-13G>A rs373032952 0.00011
NM_017780.4(CHD7):c.303G>A (p.Pro101=) rs373868449 0.00010
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=) rs372755547 0.00010
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu) rs121909637 0.00010
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=) rs763571736 0.00010
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_012414.4(RAB3GAP2):c.1215C>T (p.Phe405=) rs762485949 0.00009
NM_012431.3(SEMA3E):c.1366+11G>A rs369202554 0.00009
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) rs766680673 0.00009
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_017780.4(CHD7):c.3294A>C (p.Pro1098=) rs760166848 0.00009
NM_017780.4(CHD7):c.509C>T (p.Pro170Leu) rs369545523 0.00009
NM_017780.4(CHD7):c.5895-67A>G rs528151295 0.00009
NM_017780.4(CHD7):c.6885A>G (p.Ser2295=) rs752966093 0.00009
NM_017780.4(CHD7):c.698G>A (p.Gly233Asp) rs778249500 0.00009
NM_017780.4(CHD7):c.8034A>G (p.Glu2678=) rs559053565 0.00009
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) rs148517660 0.00009
NM_023110.3(FGFR1):c.1978-8del rs112311314 0.00009
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) rs201823433 0.00009
NM_023110.3(FGFR1):c.69G>A (p.Pro23=) rs369704492 0.00009
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) rs377010221 0.00009
NM_025000.4(DCAF17):c.192A>G (p.Gly64=) rs200189652 0.00009
NM_000475.5(NR0B1):c.207C>T (p.Cys69=) rs1274628114 0.00008
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) rs151225064 0.00008
NM_012414.4(RAB3GAP2):c.2940T>A (p.Leu980=) rs373793377 0.00008
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=) rs758229846 0.00008
NM_017780.4(CHD7):c.1051G>A (p.Val351Ile) rs199953550 0.00008
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180 0.00008
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val) rs768184220 0.00008
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=) rs371633293 0.00008
NM_017780.4(CHD7):c.4644+17A>G rs376953317 0.00008
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg) rs764496155 0.00008
NM_017780.4(CHD7):c.7596G>A (p.Thr2532=) rs375969680 0.00008
NM_017780.4(CHD7):c.8412G>A (p.Ala2804=) rs200747690 0.00008
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=) rs372889781 0.00008
NM_017780.4(CHD7):c.8791G>A (p.Val2931Met) rs370271088 0.00008
NM_023110.3(FGFR1):c.211G>T (p.Val71Leu) rs561300213 0.00008
NM_025000.4(DCAF17):c.1083T>C (p.Asn361=) rs193214847 0.00008
NM_025000.4(DCAF17):c.27G>A (p.Val9=) rs570110822 0.00008
NM_025000.4(DCAF17):c.579C>A (p.Phe193Leu) rs150095386 0.00008
NM_012431.3(SEMA3E):c.671-10G>A rs372840645 0.00007
NM_017780.4(CHD7):c.2803C>G (p.Leu935Val) rs370304926 0.00007
NM_017780.4(CHD7):c.2867C>T (p.Ser956Leu) rs367557471 0.00007
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=) rs748644473 0.00007
NM_017780.4(CHD7):c.5496G>A (p.Glu1832=) rs766542090 0.00007
NM_017780.4(CHD7):c.729C>T (p.Pro243=) rs371398600 0.00007
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) rs376063472 0.00007
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) rs767368987 0.00007
NM_025000.4(DCAF17):c.1266+6G>A rs557741620 0.00007
NM_025000.4(DCAF17):c.1422+14G>A rs368707741 0.00007
NM_000061.3(BTK):c.1590C>T (p.Asn530=) rs375450527 0.00006
NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu) rs562096116 0.00006
NM_012414.4(RAB3GAP2):c.597C>T (p.Pro199=) rs371029254 0.00006
NM_012431.3(SEMA3E):c.1366+10C>T rs144608744 0.00006
NM_012431.3(SEMA3E):c.1498C>A (p.Arg500=) rs111300014 0.00006
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=) rs142305186 0.00006
NM_012431.3(SEMA3E):c.999-16T>C rs376833826 0.00006
NM_017780.4(CHD7):c.1050T>C (p.Ala350=) rs777423713 0.00006
NM_017780.4(CHD7):c.1410A>G (p.Glu470=) rs368648424 0.00006
NM_017780.4(CHD7):c.1659G>C (p.Val553=) rs1320484884 0.00006
NM_017780.4(CHD7):c.2946T>C (p.Asn982=) rs752803020 0.00006
NM_017780.4(CHD7):c.3126C>T (p.Asn1042=) rs568551629 0.00006
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) rs767259131 0.00006
NM_017780.4(CHD7):c.3523-12G>A rs373865383 0.00006
NM_017780.4(CHD7):c.381T>C (p.Pro127=) rs373676882 0.00006
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=) rs368919638 0.00006
NM_017780.4(CHD7):c.4534-20C>T rs727503866 0.00006
NM_017780.4(CHD7):c.4850+6T>A rs745527754 0.00006
NM_017780.4(CHD7):c.4920A>G (p.Glu1640=) rs757952334 0.00006
NM_017780.4(CHD7):c.510G>A (p.Pro170=) rs748841915 0.00006
NM_017780.4(CHD7):c.522G>A (p.Pro174=) rs577112542 0.00006
NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys) rs904822604 0.00006
NM_017780.4(CHD7):c.6831C>T (p.Ser2277=) rs572350789 0.00006
NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg) rs777303307 0.00006
NM_017780.4(CHD7):c.7863G>A (p.Gln2621=) rs749381782 0.00006
NM_017780.4(CHD7):c.7989G>A (p.Ala2663=) rs767067759 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_023110.3(FGFR1):c.1977+10G>A rs770318743 0.00006
NM_023110.3(FGFR1):c.2049-13C>T rs756845879 0.00006
NM_023110.3(FGFR1):c.358+18G>T rs375458309 0.00006
NM_025000.4(DCAF17):c.1287T>C (p.Tyr429=) rs145955312 0.00006
NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser) rs776650491 0.00005
NM_003865.3(HESX1):c.33C>T (p.Leu11=) rs775835444 0.00005
NM_012414.4(RAB3GAP2):c.1281C>T (p.Asp427=) rs372594666 0.00005
NM_012431.3(SEMA3E):c.814-11G>T rs781715218 0.00005
NM_012431.3(SEMA3E):c.998+10T>C rs769133097 0.00005
NM_017780.4(CHD7):c.1959G>A (p.Pro653=) rs747024874 0.00005
NM_017780.4(CHD7):c.4416C>A (p.Leu1472=) rs546733576 0.00005
NM_017780.4(CHD7):c.5301-13T>C rs368716487 0.00005
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) rs777753993 0.00005
NM_017780.4(CHD7):c.7086C>T (p.Ser2362=) rs757280832 0.00005
NM_017780.4(CHD7):c.7294G>A (p.Val2432Met) rs372078650 0.00005
NM_017780.4(CHD7):c.8361C>T (p.Gly2787=) rs200792215 0.00005
NM_017780.4(CHD7):c.8568C>T (p.Asp2856=) rs539868738 0.00005
NM_023110.3(FGFR1):c.350A>G (p.Asn117Ser) rs780765366 0.00005
NM_023110.3(FGFR1):c.745+7G>A rs202096944 0.00005
NM_023110.3(FGFR1):c.937-6T>G rs374904700 0.00005
NM_000061.3(BTK):c.573G>A (p.Thr191=) rs146707427 0.00004
NM_000216.4(ANOS1):c.823A>G (p.Thr275Ala) rs753666778 0.00004
NM_012414.4(RAB3GAP2):c.1407G>A (p.Ala469=) rs375443204 0.00004
NM_012414.4(RAB3GAP2):c.2981-7C>T rs750436297 0.00004
NM_012414.4(RAB3GAP2):c.3336+10G>T rs771074307 0.00004
NM_012414.4(RAB3GAP2):c.4161C>T (p.Ala1387=) rs772430156 0.00004
NM_012431.3(SEMA3E):c.1173C>T (p.Tyr391=) rs370540865 0.00004
NM_012431.3(SEMA3E):c.1239G>A (p.Gln413=) rs776317078 0.00004
NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=) rs756346342 0.00004
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) rs148264760 0.00004
NM_012431.3(SEMA3E):c.213C>T (p.Phe71=) rs146189665 0.00004
NM_012431.3(SEMA3E):c.814-10G>T rs1053672541 0.00004
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile) rs199919181 0.00004
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227 0.00004
NM_017780.4(CHD7):c.1281T>C (p.Tyr427=) rs373942842 0.00004
NM_017780.4(CHD7):c.1920A>G (p.Glu640=) rs749214938 0.00004
NM_017780.4(CHD7):c.2097-9G>C rs759100071 0.00004
NM_017780.4(CHD7):c.2123G>A (p.Ser708Asn) rs753687437 0.00004
NM_017780.4(CHD7):c.2238+12A>G rs752854030 0.00004
NM_017780.4(CHD7):c.2820G>A (p.Pro940=) rs539734440 0.00004
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542 0.00004
NM_017780.4(CHD7):c.294C>T (p.Leu98=) rs372513999 0.00004
NM_017780.4(CHD7):c.2958-16C>A rs772885661 0.00004
NM_017780.4(CHD7):c.3378+18T>C rs141625014 0.00004
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594 0.00004
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser) rs750258756 0.00004
NM_017780.4(CHD7):c.4533+9C>T rs1047944999 0.00004
NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys) rs745837768 0.00004
NM_017780.4(CHD7):c.5029C>A (p.Arg1677=) rs777652245 0.00004
NM_017780.4(CHD7):c.5051-14G>T rs766512334 0.00004
NM_017780.4(CHD7):c.5196G>A (p.Lys1732=) rs755703816 0.00004
NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg) rs1481262806 0.00004
NM_017780.4(CHD7):c.5405-18C>T rs199981784 0.00004
NM_017780.4(CHD7):c.5405-8C>T rs755505152 0.00004
NM_017780.4(CHD7):c.5409T>C (p.Tyr1803=) rs1021645395 0.00004
NM_017780.4(CHD7):c.5589G>A (p.Pro1863=) rs376806146 0.00004
NM_017780.4(CHD7):c.5625T>C (p.Pro1875=) rs764844969 0.00004
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) rs143796440 0.00004
NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu) rs369543203 0.00004
NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu) rs773859400 0.00004
NM_017780.4(CHD7):c.6304G>T (p.Val2102Phe) rs753559567 0.00004
NM_017780.4(CHD7):c.6335C>T (p.Thr2112Met) rs758409717 0.00004
NM_017780.4(CHD7):c.6577G>A (p.Glu2193Lys) rs918223900 0.00004
NM_017780.4(CHD7):c.6775+13C>T rs775198282 0.00004
NM_017780.4(CHD7):c.6793G>A (p.Gly2265Arg) rs368750638 0.00004
NM_017780.4(CHD7):c.6963C>T (p.Asp2321=) rs757868659 0.00004
NM_017780.4(CHD7):c.7308T>C (p.Asn2436=) rs375586969 0.00004
NM_017780.4(CHD7):c.7332A>G (p.Leu2444=) rs764110898 0.00004
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017780.4(CHD7):c.7680C>T (p.Pro2560=) rs761548538 0.00004
NM_017780.4(CHD7):c.7831-3C>T rs148884686 0.00004
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032 0.00004
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met) rs761409446 0.00004
NM_017780.4(CHD7):c.8355C>T (p.Ala2785=) rs370131873 0.00004
NM_017780.4(CHD7):c.8378C>G (p.Ala2793Gly) rs774242976 0.00004
NM_017780.4(CHD7):c.8550T>C (p.Asn2850=) rs199565939 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017780.4(CHD7):c.8874C>T (p.Ala2958=) rs377755006 0.00004
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=) rs368038649 0.00004
NM_023110.3(FGFR1):c.1005C>T (p.Asp335=) rs1331582263 0.00004
NM_023110.3(FGFR1):c.1431-6C>T rs375706016 0.00004
NM_023110.3(FGFR1):c.2187-5C>T rs770230705 0.00004
NM_023110.3(FGFR1):c.2293-11G>A rs886062919 0.00004
NM_023110.3(FGFR1):c.2400G>A (p.Pro800=) rs780308433 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg) rs773938208 0.00004
NM_023110.3(FGFR1):c.333C>T (p.Thr111=) rs771522317 0.00004
NM_023110.3(FGFR1):c.621+7G>T rs377200873 0.00004
NM_023110.3(FGFR1):c.741C>T (p.Val247=) rs745325958 0.00004
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_023110.3(FGFR1):c.937-4C>T rs777156333 0.00004
NM_025000.4(DCAF17):c.981+10del rs760680285 0.00004
NM_000475.5(NR0B1):c.324G>A (p.Ser108=) rs147442403 0.00003
NM_012414.4(RAB3GAP2):c.1131-4T>C rs752780415 0.00003
NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=) rs756886302 0.00003
NM_012414.4(RAB3GAP2):c.3648C>T (p.Phe1216=) rs745868602 0.00003
NM_012414.4(RAB3GAP2):c.4027-5T>C rs779800010 0.00003
NM_012414.4(RAB3GAP2):c.960+14C>T rs752258077 0.00003
NM_012431.3(SEMA3E):c.1667+7C>T rs757094477 0.00003
NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=) rs199840463 0.00003
NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=) rs753767962 0.00003
NM_012431.3(SEMA3E):c.339T>C (p.Gly113=) rs564120268 0.00003
NM_017780.4(CHD7):c.1380A>G (p.Pro460=) rs746064587 0.00003
NM_017780.4(CHD7):c.1563G>A (p.Pro521=) rs765356585 0.00003
NM_017780.4(CHD7):c.1644G>A (p.Pro548=) rs748842029 0.00003
NM_017780.4(CHD7):c.1968G>A (p.Pro656=) rs569213080 0.00003
NM_017780.4(CHD7):c.2096+11G>A rs895506618 0.00003
NM_017780.4(CHD7):c.2097-20C>T rs569155117 0.00003
NM_017780.4(CHD7):c.2176G>T (p.Asp726Tyr) rs748119797 0.00003
NM_017780.4(CHD7):c.2307T>C (p.Asp769=) rs574260169 0.00003
NM_017780.4(CHD7):c.2347C>T (p.Pro783Ser) rs373873996 0.00003
NM_017780.4(CHD7):c.2457G>A (p.Glu819=) rs1060504849 0.00003
NM_017780.4(CHD7):c.2614-7G>T rs762399977 0.00003
NM_017780.4(CHD7):c.3190A>G (p.Lys1064Glu) rs200565677 0.00003
NM_017780.4(CHD7):c.4242G>T (p.Leu1414=) rs371910721 0.00003
NM_017780.4(CHD7):c.4377A>G (p.Glu1459=) rs1278636503 0.00003
NM_017780.4(CHD7):c.4413A>G (p.Ala1471=) rs746168554 0.00003
NM_017780.4(CHD7):c.4534-19G>A rs1386563597 0.00003
NM_017780.4(CHD7):c.4881C>T (p.His1627=) rs774433565 0.00003
NM_017780.4(CHD7):c.5211-12C>T rs752789319 0.00003
NM_017780.4(CHD7):c.5271G>A (p.Ala1757=) rs775003129 0.00003
NM_017780.4(CHD7):c.5535-4A>G rs777671269 0.00003
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly) rs369023995 0.00003
NM_017780.4(CHD7):c.6454C>G (p.Gln2152Glu) rs373241264 0.00003
NM_017780.4(CHD7):c.6480T>G (p.Ala2160=) rs746037662 0.00003
NM_017780.4(CHD7):c.6529G>A (p.Glu2177Lys) rs750047137 0.00003
NM_017780.4(CHD7):c.6669C>T (p.Val2223=) rs556577614 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_017780.4(CHD7):c.67G>A (p.Gly23Ser) rs763058890 0.00003
NM_017780.4(CHD7):c.7107C>T (p.Val2369=) rs773674773 0.00003
NM_017780.4(CHD7):c.7248G>A (p.Lys2416=) rs768074891 0.00003
NM_017780.4(CHD7):c.7570C>T (p.Leu2524=) rs751931671 0.00003
NM_017780.4(CHD7):c.7591C>T (p.Arg2531Trp) rs369550114 0.00003
NM_017780.4(CHD7):c.7746G>A (p.Gly2582=) rs746591351 0.00003
NM_017780.4(CHD7):c.8508G>A (p.Pro2836=) rs371399850 0.00003
NM_017780.4(CHD7):c.8586T>C (p.Asp2862=) rs756572992 0.00003
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=) rs375459176 0.00003
NM_017780.4(CHD7):c.8802C>T (p.Ser2934=) rs778908675 0.00003
NM_023110.3(FGFR1):c.1663+9C>T rs557754125 0.00003
NM_023110.3(FGFR1):c.2049-12G>A rs563601371 0.00003
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.2186+19C>T rs776791517 0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=) rs369175953 0.00003
NM_023110.3(FGFR1):c.92-20C>T rs559825541 0.00003
NM_000061.3(BTK):c.363G>A (p.Arg121=) rs781811193 0.00002
NM_000061.3(BTK):c.63A>G (p.Ser21=) rs781799902 0.00002
NM_000216.4(ANOS1):c.409C>G (p.Pro137Ala) rs1043292415 0.00002
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala) rs777276628 0.00002
NM_012414.4(RAB3GAP2):c.1041-19_1041-18del rs746233410 0.00002
NM_012414.4(RAB3GAP2):c.115+11C>G rs375507434 0.00002
NM_012414.4(RAB3GAP2):c.2401C>T (p.Leu801=) rs773701395 0.00002
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=) rs368788359 0.00002
NM_012414.4(RAB3GAP2):c.3996A>G (p.Pro1332=) rs768393894 0.00002
NM_012414.4(RAB3GAP2):c.540G>A (p.Leu180=) rs751363013 0.00002
NM_012431.3(SEMA3E):c.1320A>G (p.Arg440=) rs750937375 0.00002
NM_012431.3(SEMA3E):c.1383G>T (p.Leu461=) rs139043841 0.00002
NM_012431.3(SEMA3E):c.267C>T (p.Gly89=) rs375209449 0.00002
NM_012431.3(SEMA3E):c.671-19C>A rs375797663 0.00002
NM_012431.3(SEMA3E):c.798C>T (p.Val266=) rs1475070881 0.00002
NM_012431.3(SEMA3E):c.929-10A>G rs1032615953 0.00002
NM_017780.4(CHD7):c.1053A>G (p.Val351=) rs199880694 0.00002
NM_017780.4(CHD7):c.208G>C (p.Asp70His) rs759847780 0.00002
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile) rs552946889 0.00002
NM_017780.4(CHD7):c.2443-4dup rs1207292215 0.00002
NM_017780.4(CHD7):c.2523A>G (p.Ala841=) rs970128606 0.00002
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys) rs587783435 0.00002
NM_017780.4(CHD7):c.288C>T (p.Asn96=) rs754953018 0.00002
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His) rs762669262 0.00002
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys) rs764675280 0.00002
NM_017780.4(CHD7):c.3711C>T (p.Asn1237=) rs372498366 0.00002
NM_017780.4(CHD7):c.3989+7A>G rs757622396 0.00002
NM_017780.4(CHD7):c.4002A>G (p.Glu1334=) rs752377617 0.00002
NM_017780.4(CHD7):c.4016G>A (p.Arg1339Gln) rs770876591 0.00002
NM_017780.4(CHD7):c.4185+19C>T rs767064028 0.00002
NM_017780.4(CHD7):c.4359A>G (p.Gln1453=) rs749531765 0.00002
NM_017780.4(CHD7):c.4534-4T>G rs762875935 0.00002
NM_017780.4(CHD7):c.4692C>G (p.Leu1564=) rs777176819 0.00002
NM_017780.4(CHD7):c.4746T>C (p.Asp1582=) rs771978086 0.00002
NM_017780.4(CHD7):c.4774C>T (p.Arg1592Trp) rs773187713 0.00002
NM_017780.4(CHD7):c.4850+19G>A rs746769941 0.00002
NM_017780.4(CHD7):c.5016G>A (p.Ala1672=) rs370321135 0.00002
NM_017780.4(CHD7):c.5050+20T>A rs760955712 0.00002
NM_017780.4(CHD7):c.516G>A (p.Pro172=) rs377332156 0.00002
NM_017780.4(CHD7):c.5210+16G>T rs747154720 0.00002
NM_017780.4(CHD7):c.5214C>T (p.Val1738=) rs756430456 0.00002
NM_017780.4(CHD7):c.561G>A (p.Gln187=) rs181083503 0.00002
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449 0.00002
NM_017780.4(CHD7):c.6087C>T (p.Pro2029=) rs550461070 0.00002
NM_017780.4(CHD7):c.6104-9G>A rs567669913 0.00002
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val) rs369433978 0.00002
NM_017780.4(CHD7):c.7023T>C (p.Asp2341=) rs572098274 0.00002
NM_017780.4(CHD7):c.7052C>T (p.Pro2351Leu) rs373370399 0.00002
NM_017780.4(CHD7):c.7146G>A (p.Thr2382=) rs1450918582 0.00002
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr) rs727503870 0.00002
NM_017780.4(CHD7):c.736G>C (p.Ala246Pro) rs375325395 0.00002
NM_017780.4(CHD7):c.7678C>T (p.Pro2560Ser) rs748036782 0.00002
NM_017780.4(CHD7):c.7718A>G (p.Asn2573Ser) rs764847747 0.00002
NM_017780.4(CHD7):c.7971+7G>A rs554518877 0.00002
NM_017780.4(CHD7):c.8214G>A (p.Thr2738=) rs199570256 0.00002
NM_017780.4(CHD7):c.8367G>A (p.Ala2789=) rs752708986 0.00002
NM_017780.4(CHD7):c.8855C>G (p.Thr2952Ser) rs748655442 0.00002
NM_023110.3(FGFR1):c.1178C>T (p.Ser393Leu) rs369059499 0.00002
NM_023110.3(FGFR1):c.1663+10G>A rs901498652 0.00002
NM_023110.3(FGFR1):c.1809C>T (p.Cys603=) rs377314381 0.00002
NM_023110.3(FGFR1):c.1953C>T (p.Ile651=) rs376421301 0.00002
NM_023110.3(FGFR1):c.2007C>T (p.Pro669=) rs760681522 0.00002
NM_023110.3(FGFR1):c.2091C>T (p.Gly697=) rs773144331 0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=) rs774683007 0.00002
NM_023110.3(FGFR1):c.243C>T (p.Ile81=) rs764340351 0.00002
NM_023110.3(FGFR1):c.288C>T (p.Ser96=) rs757362905 0.00002
NM_023110.3(FGFR1):c.507G>A (p.Pro169=) rs374145904 0.00002
NM_023110.3(FGFR1):c.549C>T (p.Thr183=) rs886062920 0.00002
NM_023110.3(FGFR1):c.621+19G>A rs945311072 0.00002
NM_023110.3(FGFR1):c.937-15C>T rs966338298 0.00002
NM_025000.4(DCAF17):c.180C>T (p.Ala60=) rs559441907 0.00002
NM_025000.4(DCAF17):c.230+15A>G rs778241115 0.00002
NM_025000.4(DCAF17):c.322-20A>C rs568712419 0.00002
NM_000061.3(BTK):c.1155T>C (p.Pro385=) rs782654519 0.00001
NM_000061.3(BTK):c.1176C>T (p.Tyr392=) rs782429199 0.00001
NM_000061.3(BTK):c.1392C>T (p.Cys464=) rs373846453 0.00001
NM_000061.3(BTK):c.142-8C>T rs782365356 0.00001
NM_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
NM_000061.3(BTK):c.1482G>A (p.Gln494=) rs1555977817 0.00001
NM_000061.3(BTK):c.1737C>T (p.Asp579=) rs377324584 0.00001
NM_000061.3(BTK):c.1791A>G (p.Pro597=) rs1340458277 0.00001
NM_000061.3(BTK):c.1800A>G (p.Arg600=) rs1926357397 0.00001
NM_000061.3(BTK):c.1831G>T (p.Ala611Ser) rs1555977331 0.00001
NM_000061.3(BTK):c.189T>C (p.Cys63=) rs782683829 0.00001
NM_000061.3(BTK):c.303C>T (p.Pro101=) rs1383556662 0.00001
NM_000061.3(BTK):c.309+17C>T rs1555980312 0.00001
NM_000061.3(BTK):c.310-7G>A rs781841095 0.00001
NM_000061.3(BTK):c.391+19A>T rs1555980038 0.00001
NM_000061.3(BTK):c.609G>A (p.Pro203=) rs781964043 0.00001
NM_000061.3(BTK):c.6C>T (p.Ala2=) rs372818780 0.00001
NM_000061.3(BTK):c.852A>G (p.Lys284=) rs1057515724 0.00001
NM_000061.3(BTK):c.894+15A>C rs377652560 0.00001
NM_000061.3(BTK):c.974+7G>A rs1555978188 0.00001
NM_000216.4(ANOS1):c.1536G>A (p.Lys512=) rs1449749900 0.00001
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=) rs990602963 0.00001
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) rs761762294 0.00001
NM_000475.5(NR0B1):c.90A>G (p.Pro30=) rs777399647 0.00001
NM_003865.3(HESX1):c.517C>T (p.Leu173=) rs760501622 0.00001
NM_012414.4(RAB3GAP2):c.108G>A (p.Arg36=) rs765320215 0.00001
NM_012414.4(RAB3GAP2):c.2367G>A (p.Gln789=) rs752461001 0.00001
NM_012414.4(RAB3GAP2):c.2417-7C>T rs973067244 0.00001
NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=) rs368216093 0.00001
NM_012414.4(RAB3GAP2):c.3336+15T>C rs373879791 0.00001
NM_012414.4(RAB3GAP2):c.3453C>T (p.His1151=) rs1300023412 0.00001
NM_012414.4(RAB3GAP2):c.3868-8A>G rs886046018 0.00001
NM_012414.4(RAB3GAP2):c.4026+10A>G rs746827542 0.00001
NM_012414.4(RAB3GAP2):c.504C>T (p.Tyr168=) rs778754576 0.00001
NM_012414.4(RAB3GAP2):c.511-7C>T rs748684063 0.00001
NM_012414.4(RAB3GAP2):c.516T>C (p.Gly172=) rs568628754 0.00001
NM_012431.3(SEMA3E):c.1053A>G (p.Ala351=) rs1208777030 0.00001
NM_012431.3(SEMA3E):c.116-15C>T rs745461858 0.00001
NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=) rs1435041618 0.00001
NM_012431.3(SEMA3E):c.1367-4A>G rs927631455 0.00001
NM_012431.3(SEMA3E):c.1876-11T>C rs542379432 0.00001
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=) rs755163849 0.00001
NM_012431.3(SEMA3E):c.1977T>C (p.His659=) rs1451860370 0.00001
NM_012431.3(SEMA3E):c.1992G>A (p.Thr664=) rs753319647 0.00001
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) rs146635766 0.00001
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215 0.00001
NM_012431.3(SEMA3E):c.237T>C (p.Tyr79=) rs1790350122 0.00001
NM_012431.3(SEMA3E):c.276+19G>C rs186974190 0.00001
NM_012431.3(SEMA3E):c.378C>T (p.Asn126=) rs758897440 0.00001
NM_012431.3(SEMA3E):c.551-17C>T rs771573182 0.00001
NM_012431.3(SEMA3E):c.576C>T (p.Tyr192=) rs756263299 0.00001
NM_012431.3(SEMA3E):c.597C>T (p.Asp199=) rs200688368 0.00001
NM_012431.3(SEMA3E):c.600T>G (p.Ala200=) rs773812106 0.00001
NM_012431.3(SEMA3E):c.642T>G (p.Thr214=) rs1457393978 0.00001
NM_012431.3(SEMA3E):c.670+12G>A rs1383072223 0.00001
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781 0.00001
NM_012431.3(SEMA3E):c.802C>A (p.Arg268=) rs769859383 0.00001
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=) rs756513699 0.00001
NM_012431.3(SEMA3E):c.999-10T>C rs371994521 0.00001
NM_012431.3(SEMA3E):c.999-9A>G rs776954864 0.00001
NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr) rs747263275 0.00001
NM_017780.4(CHD7):c.1105C>G (p.Pro369Ala) rs766747354 0.00001
NM_017780.4(CHD7):c.1116A>C (p.Ser372=) rs760034378 0.00001
NM_017780.4(CHD7):c.1310A>G (p.His437Arg) rs746261185 0.00001
NM_017780.4(CHD7):c.1361A>G (p.Asn454Ser) rs766249962 0.00001
NM_017780.4(CHD7):c.1395C>T (p.Ser465=) rs747525292 0.00001
NM_017780.4(CHD7):c.1512A>G (p.Gln504=) rs587783430 0.00001
NM_017780.4(CHD7):c.1539C>T (p.Thr513=) rs777411052 0.00001
NM_017780.4(CHD7):c.156A>G (p.Pro52=) rs398124315 0.00001
NM_017780.4(CHD7):c.1626A>G (p.Pro542=) rs747791210 0.00001
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu) rs778361949 0.00001
NM_017780.4(CHD7):c.1665+17C>T rs760402351 0.00001
NM_017780.4(CHD7):c.168T>C (p.His56=) rs199776087 0.00001
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala) rs764518030 0.00001
NM_017780.4(CHD7):c.1704G>A (p.Pro568=) rs765715877 0.00001
NM_017780.4(CHD7):c.1881A>G (p.Gln627=) rs751273179 0.00001
NM_017780.4(CHD7):c.1890T>C (p.Asn630=) rs754640263 0.00001
NM_017780.4(CHD7):c.1914A>G (p.Gln638=) rs777624090 0.00001
NM_017780.4(CHD7):c.1977C>T (p.Pro659=) rs886063034 0.00001
NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg) rs1373820202 0.00001
NM_017780.4(CHD7):c.2013G>A (p.Pro671=) rs1361271759 0.00001
NM_017780.4(CHD7):c.2066C>T (p.Thr689Met) rs373706363 0.00001
NM_017780.4(CHD7):c.2175A>G (p.Ser725=) rs1471731176 0.00001
NM_017780.4(CHD7):c.2184C>A (p.Asp728Glu) rs771267153 0.00001
NM_017780.4(CHD7):c.2377-13C>A rs747682287 0.00001
NM_017780.4(CHD7):c.2442+17C>T rs766555433 0.00001
NM_017780.4(CHD7):c.2527A>G (p.Ile843Val) rs772358323 0.00001
NM_017780.4(CHD7):c.258G>A (p.Pro86=) rs750046226 0.00001
NM_017780.4(CHD7):c.2643T>C (p.Tyr881=) rs587783433 0.00001
NM_017780.4(CHD7):c.2665G>A (p.Asp889Asn) rs1330677850 0.00001
NM_017780.4(CHD7):c.2697+20A>G rs759236343 0.00001
NM_017780.4(CHD7):c.276C>T (p.Asn92=) rs779967922 0.00001
NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys) rs775000989 0.00001
NM_017780.4(CHD7):c.2839C>A (p.Arg947=) rs200220845 0.00001
NM_017780.4(CHD7):c.297G>A (p.Ala99=) rs775823361 0.00001
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg) rs750785243 0.00001
NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val) rs767043440 0.00001
NM_017780.4(CHD7):c.3160C>T (p.Arg1054Trp) rs1563631484 0.00001
NM_017780.4(CHD7):c.3202-7C>G rs376893919 0.00001
NM_017780.4(CHD7):c.3206G>A (p.Arg1069Gln) rs1346050533 0.00001
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys) rs759929302 0.00001
NM_017780.4(CHD7):c.3270T>C (p.Asp1090=) rs753213307 0.00001
NM_017780.4(CHD7):c.3324C>T (p.His1108=) rs189618218 0.00001
NM_017780.4(CHD7):c.3378+16G>A rs771299507 0.00001
NM_017780.4(CHD7):c.33C>T (p.Gly11=) rs560030949 0.00001
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233 0.00001
NM_017780.4(CHD7):c.3483A>G (p.Thr1161=) rs371212381 0.00001
NM_017780.4(CHD7):c.3522+14C>G rs752672896 0.00001
NM_017780.4(CHD7):c.3525G>A (p.Val1175=) rs1804451207 0.00001
NM_017780.4(CHD7):c.3681A>G (p.Thr1227=) rs748869169 0.00001
NM_017780.4(CHD7):c.3778+10C>T rs756438089 0.00001
NM_017780.4(CHD7):c.3778+16T>G rs1037329080 0.00001
NM_017780.4(CHD7):c.3778+18G>A rs749741616 0.00001
NM_017780.4(CHD7):c.3825A>T (p.Ala1275=) rs1355369979 0.00001
NM_017780.4(CHD7):c.4047C>T (p.Ile1349=) rs747100145 0.00001
NM_017780.4(CHD7):c.405G>A (p.Gly135=) rs1586248250 0.00001
NM_017780.4(CHD7):c.4089C>G (p.Leu1363=) rs974334602 0.00001
NM_017780.4(CHD7):c.4194T>C (p.Ala1398=) rs898986489 0.00001
NM_017780.4(CHD7):c.4260T>C (p.Tyr1420=) rs376148485 0.00001
NM_017780.4(CHD7):c.4302G>A (p.Leu1434=) rs760088130 0.00001
NM_017780.4(CHD7):c.4354-7A>G rs778196351 0.00001
NM_017780.4(CHD7):c.4392A>G (p.Leu1464=) rs1280225379 0.00001
NM_017780.4(CHD7):c.4446C>T (p.Phe1482=) rs1804820497 0.00001
NM_017780.4(CHD7):c.4644+20C>T rs1168248095 0.00001
NM_017780.4(CHD7):c.474C>T (p.Ala158=) rs1056527329 0.00001
NM_017780.4(CHD7):c.4777C>T (p.Arg1593Cys) rs763070165 0.00001
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) rs766632082 0.00001
NM_017780.4(CHD7):c.4782C>G (p.Pro1594=) rs751778680 0.00001
NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu) rs267606724 0.00001
NM_017780.4(CHD7):c.4850+13C>T rs1311582288 0.00001
NM_017780.4(CHD7):c.4850+16T>G rs1374096411 0.00001
NM_017780.4(CHD7):c.4850+18C>T rs375486200 0.00001
NM_017780.4(CHD7):c.4860G>C (p.Arg1620=) rs1441410913 0.00001
NM_017780.4(CHD7):c.486G>A (p.Gln162=) rs201635864 0.00001
NM_017780.4(CHD7):c.4899A>G (p.Gln1633=) rs761002319 0.00001
NM_017780.4(CHD7):c.498G>A (p.Gln166=) rs1223182973 0.00001
NM_017780.4(CHD7):c.501G>A (p.Pro167=) rs770348243 0.00001
NM_017780.4(CHD7):c.5025G>A (p.Gln1675=) rs769769149 0.00001
NM_017780.4(CHD7):c.5051-17T>G rs754678467 0.00001
NM_017780.4(CHD7):c.5067G>A (p.Val1689=) rs912054705 0.00001
NM_017780.4(CHD7):c.5130C>T (p.Ala1710=) rs966292699 0.00001
NM_017780.4(CHD7):c.5154A>C (p.Pro1718=) rs988819155 0.00001
NM_017780.4(CHD7):c.5160C>T (p.Ala1720=) rs766759257 0.00001
NM_017780.4(CHD7):c.5191C>T (p.Leu1731=) rs752330796 0.00001
NM_017780.4(CHD7):c.5210+20A>G rs781624235 0.00001
NM_017780.4(CHD7):c.5211-17T>C rs1805309524 0.00001
NM_017780.4(CHD7):c.5211-19C>A rs371367716 0.00001
NM_017780.4(CHD7):c.5308G>A (p.Asp1770Asn) rs762824174 0.00001
NM_017780.4(CHD7):c.5309A>G (p.Asp1770Gly) rs766488157 0.00001
NM_017780.4(CHD7):c.5404+10G>A rs780602451 0.00001
NM_017780.4(CHD7):c.5404+9C>T rs755413885 0.00001
NM_017780.4(CHD7):c.5429G>A (p.Arg1810Gln) rs755632561 0.00001
NM_017780.4(CHD7):c.5442G>A (p.Ala1814=) rs558567843 0.00001
NM_017780.4(CHD7):c.5493C>T (p.Ala1831=) rs773211166 0.00001
NM_017780.4(CHD7):c.549T>C (p.Pro183=) rs775862054 0.00001
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile) rs374602567 0.00001
NM_017780.4(CHD7):c.5532C>T (p.Asp1844=) rs368279646 0.00001
NM_017780.4(CHD7):c.5565A>G (p.Pro1855=) rs752961577 0.00001
NM_017780.4(CHD7):c.5665+9C>T rs568256905 0.00001
NM_017780.4(CHD7):c.5735G>A (p.Arg1912His) rs767326758 0.00001
NM_017780.4(CHD7):c.577A>G (p.Met193Val) rs542672517 0.00001
NM_017780.4(CHD7):c.5811T>C (p.Thr1937=) rs370573809 0.00001
NM_017780.4(CHD7):c.5865G>A (p.Arg1955=) rs1448374029 0.00001
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln) rs372077201 0.00001
NM_017780.4(CHD7):c.6104-5T>C rs376131239 0.00001
NM_017780.4(CHD7):c.6207C>T (p.Leu2069=) rs755379819 0.00001
NM_017780.4(CHD7):c.6214C>T (p.Pro2072Ser) rs780772673 0.00001
NM_017780.4(CHD7):c.6225A>G (p.Gly2075=) rs886038635 0.00001
NM_017780.4(CHD7):c.6284G>A (p.Arg2095Gln) rs773114816 0.00001
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676 0.00001
NM_017780.4(CHD7):c.6396T>C (p.Ala2132=) rs763720460 0.00001
NM_017780.4(CHD7):c.6459T>C (p.Thr2153=) rs1484332534 0.00001
NM_017780.4(CHD7):c.6471C>T (p.Ile2157=) rs1170403904 0.00001
NM_017780.4(CHD7):c.6624G>A (p.Glu2208=) rs762541154 0.00001
NM_017780.4(CHD7):c.6753G>A (p.Ser2251=) rs755202253 0.00001
NM_017780.4(CHD7):c.6775+10T>C rs180852795 0.00001
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp) rs1329129099 0.00001
NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln) rs542880173 0.00001
NM_017780.4(CHD7):c.6936+19C>G rs1410303595 0.00001
NM_017780.4(CHD7):c.6937-8C>T rs765520430 0.00001
NM_017780.4(CHD7):c.7010G>A (p.Arg2337His) rs763555514 0.00001
NM_017780.4(CHD7):c.7017G>A (p.Met2339Ile) rs1247369056 0.00001
NM_017780.4(CHD7):c.7059A>G (p.Thr2353=) rs1271940749 0.00001
NM_017780.4(CHD7):c.705G>A (p.Leu235=) rs918029767 0.00001
NM_017780.4(CHD7):c.711C>T (p.His237=) rs1188337353 0.00001
NM_017780.4(CHD7):c.7120A>G (p.Ile2374Val) rs142095932 0.00001
NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met) rs1287878235 0.00001
NM_017780.4(CHD7):c.7221C>T (p.Ile2407=) rs777847508 0.00001
NM_017780.4(CHD7):c.7224A>G (p.Glu2408=) rs749492213 0.00001
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=) rs771141688 0.00001
NM_017780.4(CHD7):c.7380T>G (p.Ser2460=) rs1259500954 0.00001
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro) rs769178123 0.00001
NM_017780.4(CHD7):c.7416A>G (p.Thr2472=) rs769395535 0.00001
NM_017780.4(CHD7):c.7537C>T (p.Arg2513Trp) rs529799008 0.00001
NM_017780.4(CHD7):c.7538G>A (p.Arg2513Gln) rs1064794649 0.00001
NM_017780.4(CHD7):c.7609-4G>T rs955067555 0.00001
NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg) rs774255090 0.00001
NM_017780.4(CHD7):c.768C>T (p.Phe256=) rs727503859 0.00001
NM_017780.4(CHD7):c.7775T>C (p.Val2592Ala) rs754831330 0.00001
NM_017780.4(CHD7):c.7789C>T (p.Leu2597=) rs774537514 0.00001
NM_017780.4(CHD7):c.778C>T (p.Pro260Ser) rs766382878 0.00001
NM_017780.4(CHD7):c.7800T>G (p.Thr2600=) rs772124801 0.00001
NM_017780.4(CHD7):c.7818A>G (p.Pro2606=) rs764474527 0.00001
NM_017780.4(CHD7):c.7830+15G>A rs776953479 0.00001
NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu) rs1468230389 0.00001
NM_017780.4(CHD7):c.7962T>C (p.Asn2654=) rs1372823546 0.00001
NM_017780.4(CHD7):c.7972-10C>G rs912810188 0.00001
NM_017780.4(CHD7):c.7972-4C>T rs1193013965 0.00001
NM_017780.4(CHD7):c.804C>T (p.Ser268=) rs780756877 0.00001
NM_017780.4(CHD7):c.8067T>G (p.Val2689=) rs772599631 0.00001
NM_017780.4(CHD7):c.813C>T (p.His271=) rs773253450 0.00001
NM_017780.4(CHD7):c.817C>T (p.Pro273Ser) rs1284559737 0.00001
NM_017780.4(CHD7):c.8298G>A (p.Ser2766=) rs747420884 0.00001
NM_017780.4(CHD7):c.8389C>T (p.Pro2797Ser) rs769500488 0.00001
NM_017780.4(CHD7):c.8413G>A (p.Gly2805Ser) rs759567393 0.00001
NM_017780.4(CHD7):c.8418G>C (p.Leu2806=) rs776919709 0.00001
NM_017780.4(CHD7):c.8424C>T (p.Asn2808=) rs773594482 0.00001
NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg) rs964405365 0.00001
NM_017780.4(CHD7):c.8556C>T (p.Asp2852=) rs794727604 0.00001
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu) rs762290343 0.00001
NM_017780.4(CHD7):c.861G>A (p.Pro287=) rs1007919674 0.00001
NM_017780.4(CHD7):c.8623G>C (p.Gly2875Arg) rs768688793 0.00001
NM_017780.4(CHD7):c.8632A>G (p.Thr2878Ala) rs773395000 0.00001
NM_017780.4(CHD7):c.8646A>C (p.Gly2882=) rs1586468596 0.00001
NM_017780.4(CHD7):c.8751G>C (p.Thr2917=) rs761033941 0.00001
NM_017780.4(CHD7):c.884G>A (p.Arg295Gln) rs569799707 0.00001
NM_017780.4(CHD7):c.8856C>A (p.Thr2952=) rs770325741 0.00001
NM_017780.4(CHD7):c.8859T>C (p.Leu2953=) rs1218577575 0.00001
NM_017780.4(CHD7):c.8868C>T (p.Ser2956=) rs575284775 0.00001
NM_017780.4(CHD7):c.8954A>G (p.Asp2985Gly) rs1308226776 0.00001
NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys) rs1472626804 0.00001
NM_023110.3(FGFR1):c.1179G>A (p.Ser393=) rs374674165 0.00001
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=) rs756104594 0.00001
NM_023110.3(FGFR1):c.1430+13T>C rs763815221 0.00001
NM_023110.3(FGFR1):c.1430+9A>G rs371390925 0.00001
NM_023110.3(FGFR1):c.1449C>T (p.Pro483=) rs755702592 0.00001
NM_023110.3(FGFR1):c.1476G>A (p.Val492=) rs1817294749 0.00001
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) rs780009859 0.00001
NM_023110.3(FGFR1):c.1977+18C>T rs201805975 0.00001
NM_023110.3(FGFR1):c.1977+9C>T rs372632166 0.00001
NM_023110.3(FGFR1):c.1978-13G>A rs761708658 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_023110.3(FGFR1):c.2048+18A>G rs1340003441 0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=) rs1193961883 0.00001
NM_023110.3(FGFR1):c.2181C>T (p.Asn727=) rs767613285 0.00001
NM_023110.3(FGFR1):c.2186+18T>G rs764343061 0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=) rs369782405 0.00001
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) rs1014179319 0.00001
NM_023110.3(FGFR1):c.279C>T (p.Pro93=) rs781034707 0.00001
NM_023110.3(FGFR1):c.359-9T>C rs770811938 0.00001
NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala) rs765615419 0.00001
NM_023110.3(FGFR1):c.39G>A (p.Leu13=) rs760206071 0.00001
NM_023110.3(FGFR1):c.405T>C (p.Ser135=) rs374139613 0.00001
NM_023110.3(FGFR1):c.450C>T (p.Pro150=) rs766091702 0.00001
NM_023110.3(FGFR1):c.615C>T (p.Gly205=) rs781689191 0.00001
NM_023110.3(FGFR1):c.648A>C (p.Ile216=) rs756132460 0.00001
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.708C>T (p.Tyr236=) rs373644620 0.00001
NM_023110.3(FGFR1):c.786C>T (p.Pro262=) rs769599671 0.00001
NM_023110.3(FGFR1):c.891G>A (p.Gly297=) rs774652525 0.00001
NM_023110.3(FGFR1):c.937-10T>C rs757823303 0.00001
NM_025000.4(DCAF17):c.1053T>C (p.Ala351=) rs1574398684 0.00001
NM_025000.4(DCAF17):c.1183-5G>T rs762875945 0.00001
NM_025000.4(DCAF17):c.1183-6T>C rs587780328 0.00001
NM_025000.4(DCAF17):c.1212T>G (p.Ser404=) rs141121608 0.00001
NM_025000.4(DCAF17):c.1332A>T (p.Ile444=) rs370984688 0.00001
NM_025000.4(DCAF17):c.1533A>G (p.Glu511=) rs375191229 0.00001
NM_025000.4(DCAF17):c.321+17G>A rs1301588115 0.00001
NM_025000.4(DCAF17):c.708T>C (p.Tyr236=) rs1695361840 0.00001
NM_025000.4(DCAF17):c.838+14A>G rs374359784 0.00001
NM_000061.3(BTK):c.1053T>C (p.Leu351=)
NM_000061.3(BTK):c.1083C>T (p.Tyr361=) rs1410917239
NM_000061.3(BTK):c.1102+13G>A
NM_000061.3(BTK):c.1102+20G>A
NM_000061.3(BTK):c.1103-17CT[4]
NM_000061.3(BTK):c.1103-23_1103-20del
NM_000061.3(BTK):c.1177+8C>T
NM_000061.3(BTK):c.1178-17C>G
NM_000061.3(BTK):c.1178-8A>T
NM_000061.3(BTK):c.1178-9T>C
NM_000061.3(BTK):c.1197A>G (p.Pro399=)
NM_000061.3(BTK):c.1245A>T (p.Val415=) rs2147428320
NM_000061.3(BTK):c.1266A>G (p.Arg422=)
NM_000061.3(BTK):c.1272G>A (p.Gln424=)
NM_000061.3(BTK):c.1275C>T (p.Tyr425=)
NM_000061.3(BTK):c.1284C>T (p.Ala428=)
NM_000061.3(BTK):c.1317A>G (p.Glu439=)
NM_000061.3(BTK):c.1349+11G>C
NM_000061.3(BTK):c.1349+18C>T
NM_000061.3(BTK):c.1349+20C>T
NM_000061.3(BTK):c.1349+7T>G
NM_000061.3(BTK):c.1350-4G>A
NM_000061.3(BTK):c.1350-6C>T rs1926477882
NM_000061.3(BTK):c.1350-9T>C
NM_000061.3(BTK):c.1365G>A (p.Glu455=)
NM_000061.3(BTK):c.1377G>A (p.Gln459=)
NM_000061.3(BTK):c.1378T>C (p.Leu460=)
NM_000061.3(BTK):c.1386C>T (p.Gly462=)
NM_000061.3(BTK):c.141+12G>A
NM_000061.3(BTK):c.141+13A>G
NM_000061.3(BTK):c.141+16A>G
NM_000061.3(BTK):c.141+19A>C
NM_000061.3(BTK):c.1416C>T (p.Ile472=)
NM_000061.3(BTK):c.142-12T>A
NM_000061.3(BTK):c.142-12T>C
NM_000061.3(BTK):c.142-16T>A
NM_000061.3(BTK):c.142-4T>C
NM_000061.3(BTK):c.142-5del
NM_000061.3(BTK):c.1458G>A (p.Leu486=)
NM_000061.3(BTK):c.150C>A (p.Gly50=)
NM_000061.3(BTK):c.1524C>T (p.Ala508=)
NM_000061.3(BTK):c.1536G>A (p.Leu512=)
NM_000061.3(BTK):c.1566+20G>A
NM_000061.3(BTK):c.1566+7C>T
NM_000061.3(BTK):c.1567-9G>T
NM_000061.3(BTK):c.1575A>G (p.Arg525=)
NM_000061.3(BTK):c.1602T>G (p.Val534=)
NM_000061.3(BTK):c.1626G>T (p.Leu542=) rs2147425748
NM_000061.3(BTK):c.1631+18A>T
NM_000061.3(BTK):c.1632-15C>T
NM_000061.3(BTK):c.1632-18G>A
NM_000061.3(BTK):c.1662A>C (p.Ser554=)
NM_000061.3(BTK):c.1692C>T (p.Ser564=)
NM_000061.3(BTK):c.1750+11A>G
NM_000061.3(BTK):c.1750+16T>A
NM_000061.3(BTK):c.1751-16T>C
NM_000061.3(BTK):c.1751-18A>C
NM_000061.3(BTK):c.1751-18A>T
NM_000061.3(BTK):c.1751-8C>T
NM_000061.3(BTK):c.1752G>C (p.Gly584=)
NM_000061.3(BTK):c.1822G>A (p.Glu608Lys)
NM_000061.3(BTK):c.1833C>T (p.Ala611=)
NM_000061.3(BTK):c.1852A>C (p.Arg618=) rs1569290824
NM_000061.3(BTK):c.1884C>A (p.Thr628=)
NM_000061.3(BTK):c.1908+18A>T
NM_000061.3(BTK):c.1908+7G>T
NM_000061.3(BTK):c.1909-17T>G
NM_000061.3(BTK):c.1909-18C>T
NM_000061.3(BTK):c.1909-20T>C
NM_000061.3(BTK):c.1909-7G>A
NM_000061.3(BTK):c.234G>A (p.Gln78=)
NM_000061.3(BTK):c.240+15A>G
NM_000061.3(BTK):c.240+17G>C
NM_000061.3(BTK):c.240+8G>A
NM_000061.3(BTK):c.240+9A>T
NM_000061.3(BTK):c.241-4A>G
NM_000061.3(BTK):c.241-5T>C rs2147444963
NM_000061.3(BTK):c.241-7A>G
NM_000061.3(BTK):c.258C>T (p.Ser86=)
NM_000061.3(BTK):c.279A>T (p.Ser93=)
NM_000061.3(BTK):c.303C>G (p.Pro101=)
NM_000061.3(BTK):c.309+13C>T
NM_000061.3(BTK):c.309+8A>G
NM_000061.3(BTK):c.310-19T>A
NM_000061.3(BTK):c.310-5C>T
NM_000061.3(BTK):c.318T>C (p.Tyr106=)
NM_000061.3(BTK):c.321T>C (p.Asp107=)
NM_000061.3(BTK):c.336C>T (p.Tyr112=)
NM_000061.3(BTK):c.357A>G (p.Glu119=)
NM_000061.3(BTK):c.36G>A (p.Lys12=)
NM_000061.3(BTK):c.37C>A (p.Arg13=)
NM_000061.3(BTK):c.392-8T>C
NM_000061.3(BTK):c.397C>A (p.Arg133=)
NM_000061.3(BTK):c.444C>A (p.Ile148=)
NM_000061.3(BTK):c.457C>A (p.Leu153Ile)
NM_000061.3(BTK):c.502T>C (p.Leu168=)
NM_000061.3(BTK):c.516T>C (p.Asn172=)
NM_000061.3(BTK):c.520+18T>C
NM_000061.3(BTK):c.520+19A>G
NM_000061.3(BTK):c.521-11T>C rs1926696577
NM_000061.3(BTK):c.521-16G>C
NM_000061.3(BTK):c.521-5T>C
NM_000061.3(BTK):c.522C>T (p.Ser174=)
NM_000061.3(BTK):c.543C>T (p.His181=)
NM_000061.3(BTK):c.561T>C (p.Pro187=)
NM_000061.3(BTK):c.573G>T (p.Thr191=)
NM_000061.3(BTK):c.576T>C (p.Pro192=)
NM_000061.3(BTK):c.588+14C>G
NM_000061.3(BTK):c.589-12C>T
NM_000061.3(BTK):c.589-13C>T
NM_000061.3(BTK):c.589-17T>C
NM_000061.3(BTK):c.589-4A>G
NM_000061.3(BTK):c.593T>C (p.Leu198Ser)
NM_000061.3(BTK):c.608C>T (p.Pro203Leu)
NM_000061.3(BTK):c.60A>G (p.Thr20=)
NM_000061.3(BTK):c.624A>C (p.Ala208=)
NM_000061.3(BTK):c.633C>T (p.Val211=)
NM_000061.3(BTK):c.639A>C (p.Thr213=)
NM_000061.3(BTK):c.696T>C (p.Asp232=)
NM_000061.3(BTK):c.776+16C>T
NM_000061.3(BTK):c.777-16A>G
NM_000061.3(BTK):c.777-9C>G
NM_000061.3(BTK):c.804T>C (p.Tyr268=)
NM_000061.3(BTK):c.839+19G>A
NM_000061.3(BTK):c.840-17G>T
NM_000061.3(BTK):c.840-8C>T
NM_000061.3(BTK):c.846T>C (p.Tyr282=) rs1603007231
NM_000061.3(BTK):c.861T>C (p.Thr287=)
NM_000061.3(BTK):c.879A>G (p.Gln293=)
NM_000061.3(BTK):c.885A>C (p.Leu295=) rs2041331171
NM_000061.3(BTK):c.894+7G>A rs886044875
NM_000061.3(BTK):c.894+9G>A
NM_000061.3(BTK):c.895-13T>C
NM_000061.3(BTK):c.895-7G>T
NM_000061.3(BTK):c.974+17C>T
NM_000061.3(BTK):c.974+18A>G
NM_000061.3(BTK):c.975-19T>G
NM_000061.3(BTK):c.975-4T>G
NM_000061.3(BTK):c.99C>G (p.Thr33=)
NM_000061.3(BTK):c.99C>T (p.Thr33=)
NM_000216.4(ANOS1):c.1134G>A (p.Thr378=)
NM_000216.4(ANOS1):c.1208-20A>G
NM_000216.4(ANOS1):c.1449+8C>A
NM_000216.4(ANOS1):c.1743C>T (p.Pro581=)
NM_000216.4(ANOS1):c.1908G>A (p.Val636=) rs1929553838
NM_000216.4(ANOS1):c.319-11C>A
NM_000216.4(ANOS1):c.726+13T>A
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
NM_000475.5(NR0B1):c.105G>A (p.Val35=)
NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)
NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
NM_000475.5(NR0B1):c.1168+13dup
NM_000475.5(NR0B1):c.1168+7G>T
NM_000475.5(NR0B1):c.1169-10C>T
NM_000475.5(NR0B1):c.1169-8C>A
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)
NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)
NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)
NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)
NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)
NM_000475.5(NR0B1):c.1257C>T (p.His419=)
NM_000475.5(NR0B1):c.126G>C (p.Ser42=)
NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)
NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)
NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)
NM_000475.5(NR0B1):c.1308G>A (p.Leu436=) rs2147004349
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)
NM_000475.5(NR0B1):c.144G>C (p.Gly48=)
NM_000475.5(NR0B1):c.151A>C (p.Arg51=)
NM_000475.5(NR0B1):c.159G>T (p.Gly53=)
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
NM_000475.5(NR0B1):c.162G>T (p.Leu54=)
NM_000475.5(NR0B1):c.171G>C (p.Gly57=)
NM_000475.5(NR0B1):c.18C>T (p.His6=)
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
NM_000475.5(NR0B1):c.198C>T (p.Cys66=)
NM_000475.5(NR0B1):c.210T>C (p.Gly70=)
NM_000475.5(NR0B1):c.210T>G (p.Gly70=)
NM_000475.5(NR0B1):c.213A>G (p.Lys71=)
NM_000475.5(NR0B1):c.223C>A (p.Arg75=)
NM_000475.5(NR0B1):c.237C>A (p.Ile79=) rs2147007339
NM_000475.5(NR0B1):c.252G>C (p.Leu84=) rs1192762456
NM_000475.5(NR0B1):c.255G>T (p.Thr85=) rs759371222
NM_000475.5(NR0B1):c.276G>C (p.Ala92=)
NM_000475.5(NR0B1):c.276G>T (p.Ala92=)
NM_000475.5(NR0B1):c.279A>T (p.Ala93=)
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)
NM_000475.5(NR0B1):c.291C>T (p.Pro97=)
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
NM_000475.5(NR0B1):c.30C>T (p.Gly10=)
NM_000475.5(NR0B1):c.318C>G (p.Gly106=)
NM_000475.5(NR0B1):c.324G>T (p.Ser108=)
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
NM_000475.5(NR0B1):c.357G>T (p.Gly119=)
NM_000475.5(NR0B1):c.360T>G (p.Leu120=)
NM_000475.5(NR0B1):c.363G>A (p.Pro121=)
NM_000475.5(NR0B1):c.366T>C (p.Gly122=)
NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)
NM_000475.5(NR0B1):c.369G>A (p.Gly123=)
NM_000475.5(NR0B1):c.375C>T (p.Pro125=)
NM_000475.5(NR0B1):c.381A>G (p.Ala127=)
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
NM_000475.5(NR0B1):c.44A>G (p.Asn15Ser)
NM_000475.5(NR0B1):c.471C>T (p.His157=)
NM_000475.5(NR0B1):c.480G>A (p.Pro160=)
NM_000475.5(NR0B1):c.489C>G (p.Pro163=)
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
NM_000475.5(NR0B1):c.579G>A (p.Thr193=)
NM_000475.5(NR0B1):c.582G>C (p.Ala194=) rs1275730944
NM_000475.5(NR0B1):c.582G>T (p.Ala194=)
NM_000475.5(NR0B1):c.585T>C (p.Leu195=)
NM_000475.5(NR0B1):c.603T>C (p.Phe201=)
NM_000475.5(NR0B1):c.624G>A (p.Gln208=)
NM_000475.5(NR0B1):c.642C>T (p.Tyr214=)
NM_000475.5(NR0B1):c.645C>T (p.Cys215=)
NM_000475.5(NR0B1):c.654G>A (p.Thr218=)
NM_000475.5(NR0B1):c.654G>C (p.Thr218=)
NM_000475.5(NR0B1):c.654G>T (p.Thr218=)
NM_000475.5(NR0B1):c.669G>T (p.Ala223=)
NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)
NM_000475.5(NR0B1):c.690G>C (p.Arg230=)
NM_000475.5(NR0B1):c.693G>A (p.Pro231=)
NM_000475.5(NR0B1):c.696G>A (p.Arg232=)
NM_000475.5(NR0B1):c.699C>T (p.Ala233=)
NM_000475.5(NR0B1):c.69G>A (p.Thr23=)
NM_000475.5(NR0B1):c.6G>A (p.Ala2=)
NM_000475.5(NR0B1):c.6G>C (p.Ala2=)
NM_000475.5(NR0B1):c.702C>T (p.Pro234=)
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
NM_000475.5(NR0B1):c.762C>T (p.Val254=)
NM_000475.5(NR0B1):c.774C>T (p.Ala258=)
NM_000475.5(NR0B1):c.777A>G (p.Ser259=)
NM_000475.5(NR0B1):c.780G>A (p.Ala260=)
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
NM_000475.5(NR0B1):c.858G>A (p.Leu286=)
NM_000475.5(NR0B1):c.885C>T (p.Leu295=)
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
NM_000475.5(NR0B1):c.936G>A (p.Ser312=)
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp)
NM_000475.5(NR0B1):c.966C>T (p.Thr322=)
NM_000475.5(NR0B1):c.969C>A (p.Thr323=)
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
NM_003865.3(HESX1):c.102C>T (p.Asp34=)
NM_003865.3(HESX1):c.105T>C (p.Cys35=)
NM_003865.3(HESX1):c.150C>T (p.Ser50=) rs1299316380
NM_003865.3(HESX1):c.157+19G>T
NM_003865.3(HESX1):c.303A>G (p.Arg101=)
NM_003865.3(HESX1):c.318T>C (p.Tyr106=)
NM_003865.3(HESX1):c.358-20T>C
NM_003865.3(HESX1):c.459+15T>C
NM_003865.3(HESX1):c.459+18T>C
NM_003865.3(HESX1):c.460-10T>A
NM_003865.3(HESX1):c.498C>T (p.Ser166=)
NM_003865.3(HESX1):c.75A>G (p.Arg25=)
NM_012414.4(RAB3GAP2):c.1038C>A (p.Ala346=)
NM_012414.4(RAB3GAP2):c.1040+7A>T
NM_012414.4(RAB3GAP2):c.1059A>G (p.Lys353=) rs371000771
NM_012414.4(RAB3GAP2):c.1083C>A (p.Val361=) rs2102871802
NM_012414.4(RAB3GAP2):c.1125T>C (p.Ala375=)
NM_012414.4(RAB3GAP2):c.1131-7A>C
NM_012414.4(RAB3GAP2):c.115+12T>C
NM_012414.4(RAB3GAP2):c.116-15T>C
NM_012414.4(RAB3GAP2):c.1194G>A (p.Leu398=)
NM_012414.4(RAB3GAP2):c.1272G>A (p.Gly424=)
NM_012414.4(RAB3GAP2):c.1275C>T (p.Tyr425=)
NM_012414.4(RAB3GAP2):c.1278C>T (p.Arg426=)
NM_012414.4(RAB3GAP2):c.1344T>C (p.Asp448=)
NM_012414.4(RAB3GAP2):c.1347T>C (p.Phe449=)
NM_012414.4(RAB3GAP2):c.1378C>A (p.Arg460=)
NM_012414.4(RAB3GAP2):c.1431G>A (p.Val477=)
NM_012414.4(RAB3GAP2):c.1446G>A (p.Gln482=)
NM_012414.4(RAB3GAP2):c.1487+14G>A rs1658608277
NM_012414.4(RAB3GAP2):c.1488-14T>C
NM_012414.4(RAB3GAP2):c.1488-15A>G
NM_012414.4(RAB3GAP2):c.1584G>T (p.Val528=) rs372216761
NM_012414.4(RAB3GAP2):c.1631+10G>A
NM_012414.4(RAB3GAP2):c.1631+16T>C
NM_012414.4(RAB3GAP2):c.1715-16del
NM_012414.4(RAB3GAP2):c.1715-20_1715-17del
NM_012414.4(RAB3GAP2):c.1761C>T (p.Tyr587=)
NM_012414.4(RAB3GAP2):c.1779+11A>G
NM_012414.4(RAB3GAP2):c.1779+16A>T
NM_012414.4(RAB3GAP2):c.1779+19C>T
NM_012414.4(RAB3GAP2):c.180+18T>C
NM_012414.4(RAB3GAP2):c.1870+8G>C
NM_012414.4(RAB3GAP2):c.1871-9G>A rs1358973733
NM_012414.4(RAB3GAP2):c.1884T>C (p.Val628=)
NM_012414.4(RAB3GAP2):c.1927C>T (p.Leu643=)
NM_012414.4(RAB3GAP2):c.1929G>A (p.Leu643=) rs1392025960
NM_012414.4(RAB3GAP2):c.1995T>C (p.Asp665=)
NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2] rs764326258
NM_012414.4(RAB3GAP2):c.2212+16C>T
NM_012414.4(RAB3GAP2):c.2212+18C>A
NM_012414.4(RAB3GAP2):c.2253C>T (p.Ser751=)
NM_012414.4(RAB3GAP2):c.2256T>C (p.Thr752=)
NM_012414.4(RAB3GAP2):c.2283G>A (p.Ser761=)
NM_012414.4(RAB3GAP2):c.2311-19del
NM_012414.4(RAB3GAP2):c.2403G>A (p.Leu801=) rs1571881674
NM_012414.4(RAB3GAP2):c.2416+18C>G
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del rs769425345
NM_012414.4(RAB3GAP2):c.2424C>T (p.Ile808=)
NM_012414.4(RAB3GAP2):c.24C>T (p.Phe8=)
NM_012414.4(RAB3GAP2):c.2508C>T (p.Ala836=)
NM_012414.4(RAB3GAP2):c.2523G>A (p.Ala841=)
NM_012414.4(RAB3GAP2):c.2532G>T (p.Gly844=)
NM_012414.4(RAB3GAP2):c.2562C>T (p.Asn854=)
NM_012414.4(RAB3GAP2):c.2721G>A (p.Gly907=)
NM_012414.4(RAB3GAP2):c.2751G>T (p.Leu917=)
NM_012414.4(RAB3GAP2):c.2807-4A>G
NM_012414.4(RAB3GAP2):c.2832G>A (p.Lys944=)
NM_012414.4(RAB3GAP2):c.2866T>C (p.Leu956=)
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=) rs1437597491
NM_012414.4(RAB3GAP2):c.2946A>G (p.Val982=)
NM_012414.4(RAB3GAP2):c.2980+7C>T
NM_012414.4(RAB3GAP2):c.2981-9_2981-6del rs766834201
NM_012414.4(RAB3GAP2):c.2986C>T (p.Leu996=)
NM_012414.4(RAB3GAP2):c.2988G>A (p.Leu996=) rs2102857054
NM_012414.4(RAB3GAP2):c.3012T>C (p.Pro1004=)
NM_012414.4(RAB3GAP2):c.304+15A>G
NM_012414.4(RAB3GAP2):c.304+19T>G
NM_012414.4(RAB3GAP2):c.305-16A>T
NM_012414.4(RAB3GAP2):c.305-24_305-20del rs770097677
NM_012414.4(RAB3GAP2):c.305-6T>A
NM_012414.4(RAB3GAP2):c.3060C>T (p.Tyr1020=)
NM_012414.4(RAB3GAP2):c.3087+11C>T
NM_012414.4(RAB3GAP2):c.3087+12G>A
NM_012414.4(RAB3GAP2):c.3088-16T>C
NM_012414.4(RAB3GAP2):c.3088-5G>A
NM_012414.4(RAB3GAP2):c.3088-9G>A
NM_012414.4(RAB3GAP2):c.3141A>G (p.Ala1047=)
NM_012414.4(RAB3GAP2):c.3144T>C (p.His1048=)
NM_012414.4(RAB3GAP2):c.3147T>G (p.Val1049=)
NM_012414.4(RAB3GAP2):c.3154+15G>C
NM_012414.4(RAB3GAP2):c.3155-14T>C
NM_012414.4(RAB3GAP2):c.3155-8C>T
NM_012414.4(RAB3GAP2):c.3156C>T (p.Gly1052=)
NM_012414.4(RAB3GAP2):c.3180G>A (p.Thr1060=) rs765738431
NM_012414.4(RAB3GAP2):c.3186A>G (p.Leu1062=)
NM_012414.4(RAB3GAP2):c.3198T>C (p.Phe1066=)
NM_012414.4(RAB3GAP2):c.3226-12T>G
NM_012414.4(RAB3GAP2):c.3226-17T>C
NM_012414.4(RAB3GAP2):c.3240A>G (p.Pro1080=) rs1289153615
NM_012414.4(RAB3GAP2):c.3291A>T (p.Thr1097=) rs1411747717
NM_012414.4(RAB3GAP2):c.3297C>T (p.Phe1099=)
NM_012414.4(RAB3GAP2):c.3321T>C (p.Leu1107=)
NM_012414.4(RAB3GAP2):c.3336+9G>C
NM_012414.4(RAB3GAP2):c.3337-8A>C
NM_012414.4(RAB3GAP2):c.3396C>T (p.Leu1132=)
NM_012414.4(RAB3GAP2):c.3399C>T (p.Ser1133=)
NM_012414.4(RAB3GAP2):c.3400G>C (p.Val1134Leu) rs138489010
NM_012414.4(RAB3GAP2):c.3427C>T (p.Leu1143=)
NM_012414.4(RAB3GAP2):c.3471C>T (p.His1157=) rs200552845
NM_012414.4(RAB3GAP2):c.3555+16del
NM_012414.4(RAB3GAP2):c.3556-8_3556-5del rs1289721687
NM_012414.4(RAB3GAP2):c.3558A>G (p.Gly1186=)
NM_012414.4(RAB3GAP2):c.3646-21_3646-18del
NM_012414.4(RAB3GAP2):c.3690A>G (p.Ser1230=) rs1161462546
NM_012414.4(RAB3GAP2):c.3693C>T (p.Ala1231=)
NM_012414.4(RAB3GAP2):c.372A>G (p.Leu124=) rs2102881432
NM_012414.4(RAB3GAP2):c.3744A>G (p.Lys1248=)
NM_012414.4(RAB3GAP2):c.3867+10A>G
NM_012414.4(RAB3GAP2):c.3868-18C>T
NM_012414.4(RAB3GAP2):c.387-18T>A
NM_012414.4(RAB3GAP2):c.3876A>G (p.Leu1292=)
NM_012414.4(RAB3GAP2):c.3942T>C (p.His1314=)
NM_012414.4(RAB3GAP2):c.3945G>A (p.Ala1315=)
NM_012414.4(RAB3GAP2):c.4026+12A>G
NM_012414.4(RAB3GAP2):c.4026+13G>A rs771446188
NM_012414.4(RAB3GAP2):c.4026+19G>C
NM_012414.4(RAB3GAP2):c.4026+7A>G
NM_012414.4(RAB3GAP2):c.4027-15G>C
NM_012414.4(RAB3GAP2):c.4038C>T (p.Asp1346=)
NM_012414.4(RAB3GAP2):c.4059A>C (p.Pro1353=)
NM_012414.4(RAB3GAP2):c.408A>G (p.Leu136=)
NM_012414.4(RAB3GAP2):c.4113A>G (p.Lys1371=)
NM_012414.4(RAB3GAP2):c.4119G>A (p.Gly1373=) rs763962470
NM_012414.4(RAB3GAP2):c.4164A>C (p.Ile1388=)
NM_012414.4(RAB3GAP2):c.4179A>G (p.Leu1393=)
NM_012414.4(RAB3GAP2):c.435-15T>C
NM_012414.4(RAB3GAP2):c.462C>A (p.Thr154=)
NM_012414.4(RAB3GAP2):c.510+17A>G
NM_012414.4(RAB3GAP2):c.511-18_511-17insCCTCTTGTTTCCTCTGTGCTTC rs747465884
NM_012414.4(RAB3GAP2):c.546G>A (p.Glu182=)
NM_012414.4(RAB3GAP2):c.600C>T (p.Gly200=)
NM_012414.4(RAB3GAP2):c.613-17T>C
NM_012414.4(RAB3GAP2):c.613-20T>G
NM_012414.4(RAB3GAP2):c.613-6A>T
NM_012414.4(RAB3GAP2):c.712+18A>T
NM_012414.4(RAB3GAP2):c.72C>T (p.His24=)
NM_012414.4(RAB3GAP2):c.747A>C (p.Pro249=) rs780485524
NM_012414.4(RAB3GAP2):c.76C>A (p.Arg26=)
NM_012414.4(RAB3GAP2):c.811+17C>T
NM_012414.4(RAB3GAP2):c.873T>C (p.Asn291=) rs1463280020
NM_012414.4(RAB3GAP2):c.927C>A (p.Ser309=) rs1397365740
NM_012414.4(RAB3GAP2):c.927C>T (p.Ser309=)
NM_012414.4(RAB3GAP2):c.933A>G (p.Pro311=)
NM_012414.4(RAB3GAP2):c.960+16A>G
NM_012414.4(RAB3GAP2):c.960+17T>C
NM_012414.4(RAB3GAP2):c.972A>G (p.Gln324=)
NM_012414.4(RAB3GAP2):c.984C>T (p.Ser328=) rs1234105204
NM_012431.3(SEMA3E):c.1009C>A (p.Arg337=) rs965528935
NM_012431.3(SEMA3E):c.102C>T (p.Arg34=)
NM_012431.3(SEMA3E):c.1062C>T (p.Asn354=)
NM_012431.3(SEMA3E):c.108A>G (p.Ser36=)
NM_012431.3(SEMA3E):c.1125T>G (p.Pro375=) rs2115627595
NM_012431.3(SEMA3E):c.1131A>G (p.Pro377=)
NM_012431.3(SEMA3E):c.1143+15A>G
NM_012431.3(SEMA3E):c.1143+17A>G
NM_012431.3(SEMA3E):c.1144-12C>T
NM_012431.3(SEMA3E):c.1144-13A>G
NM_012431.3(SEMA3E):c.1144-15C>A
NM_012431.3(SEMA3E):c.1144-19_1144-15del rs755190119
NM_012431.3(SEMA3E):c.1144-7T>C rs1370491845
NM_012431.3(SEMA3E):c.1146T>C (p.Cys382=)
NM_012431.3(SEMA3E):c.116-16T>A rs771714740
NM_012431.3(SEMA3E):c.116-7A>T rs2115977179
NM_012431.3(SEMA3E):c.1182C>G (p.Thr394=)
NM_012431.3(SEMA3E):c.1194T>C (p.Pro398=)
NM_012431.3(SEMA3E):c.123G>A (p.Leu41=) rs2115977130
NM_012431.3(SEMA3E):c.1251T>G (p.Pro417=) rs2115616642
NM_012431.3(SEMA3E):c.1260A>G (p.Lys420=)
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1359T>C (p.Ile453=)
NM_012431.3(SEMA3E):c.1366+11G>T
NM_012431.3(SEMA3E):c.1367-17GTTTT[3]
NM_012431.3(SEMA3E):c.1367-20C>T
NM_012431.3(SEMA3E):c.1367-7C>T rs2115601484
NM_012431.3(SEMA3E):c.1383G>A (p.Leu461=) rs139043841
NM_012431.3(SEMA3E):c.1392C>T (p.Ile464=)
NM_012431.3(SEMA3E):c.1458+11C>T
NM_012431.3(SEMA3E):c.1458+19A>G rs2115600702
NM_012431.3(SEMA3E):c.1459-11del
NM_012431.3(SEMA3E):c.1459-12_1459-11del rs1788078377
NM_012431.3(SEMA3E):c.1459-17del rs2115589623
NM_012431.3(SEMA3E):c.1461T>C (p.Asp487=)
NM_012431.3(SEMA3E):c.1476T>A (p.Ile492=)
NM_012431.3(SEMA3E):c.1485G>A (p.Glu495=)
NM_012431.3(SEMA3E):c.1500+16G>A
NM_012431.3(SEMA3E):c.1518A>C (p.Gly506=) rs1788042634
NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=)
NM_012431.3(SEMA3E):c.15G>C (p.Gly5=)
NM_012431.3(SEMA3E):c.1620T>C (p.Asp540=)
NM_012431.3(SEMA3E):c.1667+8G>A
NM_012431.3(SEMA3E):c.1667+8G>T
NM_012431.3(SEMA3E):c.1668-10T>G rs1284168796
NM_012431.3(SEMA3E):c.1668-18G>T rs771755120
NM_012431.3(SEMA3E):c.1686T>C (p.Asp562=)
NM_012431.3(SEMA3E):c.1710G>A (p.Gln570=) rs1584209229
NM_012431.3(SEMA3E):c.1728G>A (p.Gln576=) rs2116918980
NM_012431.3(SEMA3E):c.1735+17C>T
NM_012431.3(SEMA3E):c.1736-13G>T rs1296337014
NM_012431.3(SEMA3E):c.1736-9C>T
NM_012431.3(SEMA3E):c.1806T>C (p.Cys602=)
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031
NM_012431.3(SEMA3E):c.1857T>G (p.Arg619=)
NM_012431.3(SEMA3E):c.1875+15C>A rs1325542892
NM_012431.3(SEMA3E):c.1875+17T>G
NM_012431.3(SEMA3E):c.1875+19T>C
NM_012431.3(SEMA3E):c.1875+20T>G
NM_012431.3(SEMA3E):c.1876-14T>A rs891019060
NM_012431.3(SEMA3E):c.1876-4G>T rs1321372061
NM_012431.3(SEMA3E):c.1876-5T>C rs1794699166
NM_012431.3(SEMA3E):c.1876-8T>C
NM_012431.3(SEMA3E):c.1890C>T (p.Asp630=)
NM_012431.3(SEMA3E):c.1914T>A (p.Gly638=) rs1794698394
NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=)
NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=)
NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=)
NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=)
NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=)
NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)
NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=)
NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=) rs757700378
NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=)
NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=)
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) rs375211355
NM_012431.3(SEMA3E):c.2187C>T (p.Cys729=)
NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=)
NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=) rs2116891596
NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=) rs1199344717
NM_012431.3(SEMA3E):c.276+10T>C
NM_012431.3(SEMA3E):c.288G>C (p.Pro96=)
NM_012431.3(SEMA3E):c.30G>A (p.Leu10=)
NM_012431.3(SEMA3E):c.336+14A>G
NM_012431.3(SEMA3E):c.336+15T>C
NM_012431.3(SEMA3E):c.337-18C>G
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) rs1584267738
NM_012431.3(SEMA3E):c.414T>C (p.Phe138=)
NM_012431.3(SEMA3E):c.456+11T>A
NM_012431.3(SEMA3E):c.531C>T (p.Ser177=)
NM_012431.3(SEMA3E):c.537C>T (p.Ile179=) rs944160895
NM_012431.3(SEMA3E):c.550+14C>T
NM_012431.3(SEMA3E):c.550+17C>T
NM_012431.3(SEMA3E):c.551-11C>T
NM_012431.3(SEMA3E):c.551-14A>G
NM_012431.3(SEMA3E):c.551-14A>T
NM_012431.3(SEMA3E):c.551-18A>G rs774812464
NM_012431.3(SEMA3E):c.551-4G>A rs1788369989
NM_012431.3(SEMA3E):c.555T>C (p.Ser185=)
NM_012431.3(SEMA3E):c.570A>T (p.Gly190=) rs1788369340
NM_012431.3(SEMA3E):c.609C>T (p.Phe203=)
NM_012431.3(SEMA3E):c.612C>T (p.Arg204=) rs2115654801
NM_012431.3(SEMA3E):c.630C>T (p.Ala210=)
NM_012431.3(SEMA3E):c.657G>A (p.Glu219=)
NM_012431.3(SEMA3E):c.670+11G>A
NM_012431.3(SEMA3E):c.670+20T>C
NM_012431.3(SEMA3E):c.670+8T>A
NM_012431.3(SEMA3E):c.671-16T>C
NM_012431.3(SEMA3E):c.671-19C>T rs375797663
NM_012431.3(SEMA3E):c.671-7C>T rs1255502131
NM_012431.3(SEMA3E):c.693C>T (p.Tyr231=) rs2115649282
NM_012431.3(SEMA3E):c.708T>C (p.Asn236=)
NM_012431.3(SEMA3E):c.726C>T (p.Asn242=)
NM_012431.3(SEMA3E):c.732A>G (p.Val244=)
NM_012431.3(SEMA3E):c.780C>T (p.His260=) rs533306215
NM_012431.3(SEMA3E):c.789C>T (p.Tyr263=) rs1467250504
NM_012431.3(SEMA3E):c.807C>T (p.Leu269=)
NM_012431.3(SEMA3E):c.813+10TC[3]
NM_012431.3(SEMA3E):c.813+20_813+22del
NM_012431.3(SEMA3E):c.814-18C>G rs1027659475
NM_012431.3(SEMA3E):c.814-20C>T
NM_012431.3(SEMA3E):c.814-9T>C rs1562767558
NM_012431.3(SEMA3E):c.816T>C (p.Asn272=)
NM_012431.3(SEMA3E):c.84T>C (p.Thr28=)
NM_012431.3(SEMA3E):c.864A>G (p.Leu288=) rs1584226009
NM_012431.3(SEMA3E):c.867A>G (p.Lys289=) rs2115643169
NM_012431.3(SEMA3E):c.870G>T (p.Ala290=) rs756513699
NM_012431.3(SEMA3E):c.891A>G (p.Pro297=)
NM_012431.3(SEMA3E):c.90C>T (p.His30=)
NM_012431.3(SEMA3E):c.928+10T>C
NM_012431.3(SEMA3E):c.928+12T>G
NM_012431.3(SEMA3E):c.930G>A (p.Glu310=) rs2115641011
NM_012431.3(SEMA3E):c.998+15C>T
NM_012431.3(SEMA3E):c.998+9T>G
NM_012431.3(SEMA3E):c.999-19T>C rs2115628543
NM_012431.3(SEMA3E):c.9C>A (p.Ser3=)
NM_017780.4(CHD7):c.102A>G (p.Val34=) rs1170310957
NM_017780.4(CHD7):c.1035A>C (p.Pro345=)
NM_017780.4(CHD7):c.1092G>A (p.Gln364=) rs1430411532
NM_017780.4(CHD7):c.109A>G (p.Met37Val) rs1416709395
NM_017780.4(CHD7):c.1107C>T (p.Pro369=) rs1375829546
NM_017780.4(CHD7):c.1173C>G (p.Ala391=) rs2150580271
NM_017780.4(CHD7):c.1179A>T (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1205T>C (p.Met402Thr) rs775931738
NM_017780.4(CHD7):c.1233A>G (p.Pro411=) rs1809107487
NM_017780.4(CHD7):c.1260A>C (p.Ile420=) rs1332728138
NM_017780.4(CHD7):c.1260A>G (p.Ile420Met) rs1332728138
NM_017780.4(CHD7):c.1311C>T (p.His437=)
NM_017780.4(CHD7):c.1315C>T (p.Pro439Ser) rs772369092
NM_017780.4(CHD7):c.1349T>C (p.Met450Thr)
NM_017780.4(CHD7):c.1349T>G (p.Met450Arg)
NM_017780.4(CHD7):c.1356C>T (p.Pro452=)
NM_017780.4(CHD7):c.141T>C (p.Phe47=) rs2150577522
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) rs773039925
NM_017780.4(CHD7):c.1428G>A (p.Arg476=)
NM_017780.4(CHD7):c.1449T>G (p.Val483=)
NM_017780.4(CHD7):c.1451G>T (p.Gly484Val)
NM_017780.4(CHD7):c.1454T>C (p.Leu485Pro) rs1313748646
NM_017780.4(CHD7):c.1475A>G (p.Gln492Arg)
NM_017780.4(CHD7):c.1489C>A (p.Pro497Thr)
NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg) rs1465792260
NM_017780.4(CHD7):c.1556C>T (p.Pro519Leu)
NM_017780.4(CHD7):c.155C>G (p.Pro52Arg)
NM_017780.4(CHD7):c.1581T>C (p.Ser527=)
NM_017780.4(CHD7):c.1632C>G (p.Pro544=) rs45536935
NM_017780.4(CHD7):c.1653G>A (p.Val551=)
NM_017780.4(CHD7):c.1665+10C>G
NM_017780.4(CHD7):c.1665+14G>C
NM_017780.4(CHD7):c.1665+16G>A rs2150581557
NM_017780.4(CHD7):c.1665+20A>C
NM_017780.4(CHD7):c.1666-16T>C
NM_017780.4(CHD7):c.1666-20T>C
NM_017780.4(CHD7):c.1666-5C>A
NM_017780.4(CHD7):c.1671C>T (p.Ser557=)
NM_017780.4(CHD7):c.1674G>A (p.Pro558=)
NM_017780.4(CHD7):c.1674G>C (p.Pro558=)
NM_017780.4(CHD7):c.1674G>T (p.Pro558=) rs763024481
NM_017780.4(CHD7):c.1698A>G (p.Pro566=) rs727503862
NM_017780.4(CHD7):c.171T>C (p.Pro57=)
NM_017780.4(CHD7):c.1725A>G (p.Gly575=) rs2150669175
NM_017780.4(CHD7):c.1728G>A (p.Pro576=) rs754836392
NM_017780.4(CHD7):c.1735C>G (p.Gln579Glu)
NM_017780.4(CHD7):c.1740A>G (p.Leu580=)
NM_017780.4(CHD7):c.1759C>T (p.Leu587=)
NM_017780.4(CHD7):c.1761G>T (p.Leu587=)
NM_017780.4(CHD7):c.1785A>G (p.Gln595=)
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg) rs1467028739
NM_017780.4(CHD7):c.1812C>T (p.Asn604=)
NM_017780.4(CHD7):c.1819G>A (p.Val607Ile)
NM_017780.4(CHD7):c.1851A>C (p.Lys617Asn)
NM_017780.4(CHD7):c.1862C>A (p.Pro621His) rs1229088933
NM_017780.4(CHD7):c.1947A>C (p.Ala649=)
NM_017780.4(CHD7):c.1956C>A (p.Asp652Glu)
NM_017780.4(CHD7):c.1971A>G (p.Lys657=)
NM_017780.4(CHD7):c.1980G>A (p.Lys660=) rs2150669967
NM_017780.4(CHD7):c.2004C>T (p.Pro668=)
NM_017780.4(CHD7):c.201A>C (p.Thr67=)
NM_017780.4(CHD7):c.2022T>C (p.Pro674=)
NM_017780.4(CHD7):c.2037G>A (p.Glu679=)
NM_017780.4(CHD7):c.2076C>T (p.Pro692=)
NM_017780.4(CHD7):c.2096+23_2096+25del rs1811226936
NM_017780.4(CHD7):c.2096+8G>A
NM_017780.4(CHD7):c.2097-14A>G
NM_017780.4(CHD7):c.2118A>G (p.Glu706=) rs2150697530
NM_017780.4(CHD7):c.2162G>A (p.Gly721Asp)
NM_017780.4(CHD7):c.2175A>C (p.Ser725=)
NM_017780.4(CHD7):c.2187A>G (p.Lys729=) rs1405754910
NM_017780.4(CHD7):c.2196A>G (p.Pro732=)
NM_017780.4(CHD7):c.2199A>G (p.Pro733=)
NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del) rs748363597
NM_017780.4(CHD7):c.2218G>A (p.Asp740Asn) rs776372236
NM_017780.4(CHD7):c.2232T>G (p.Gly744=)
NM_017780.4(CHD7):c.2238+7C>T
NM_017780.4(CHD7):c.2260G>C (p.Val754Leu)
NM_017780.4(CHD7):c.2265G>A (p.Lys755=)
NM_017780.4(CHD7):c.2270A>G (p.Lys757Arg)
NM_017780.4(CHD7):c.2283A>G (p.Glu761=) rs1372243680
NM_017780.4(CHD7):c.2330C>T (p.Ala777Val)
NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe) rs1331824961
NM_017780.4(CHD7):c.2376+8C>A rs1331200503
NM_017780.4(CHD7):c.2376+8C>T
NM_017780.4(CHD7):c.2376+9C>T rs2150709106
NM_017780.4(CHD7):c.2377-16A>G
NM_017780.4(CHD7):c.2377-17C>T rs1586352662
NM_017780.4(CHD7):c.2377-8T>G rs777518407
NM_017780.4(CHD7):c.2377-9T>C
NM_017780.4(CHD7):c.2391A>G (p.Ala797=)
NM_017780.4(CHD7):c.2400A>C (p.Pro800=) rs1586352829
NM_017780.4(CHD7):c.2442+10A>G
NM_017780.4(CHD7):c.2442+11T>C
NM_017780.4(CHD7):c.2442+12del
NM_017780.4(CHD7):c.2442+16G>A
NM_017780.4(CHD7):c.2442+7G>A
NM_017780.4(CHD7):c.2443-11T>G rs2150723881
NM_017780.4(CHD7):c.2448A>G (p.Glu816=)
NM_017780.4(CHD7):c.2496C>T (p.Asn832=) rs1455553468
NM_017780.4(CHD7):c.2498+14G>C
NM_017780.4(CHD7):c.2498+15del
NM_017780.4(CHD7):c.2499-10G>T rs1351318078
NM_017780.4(CHD7):c.2499-17T>C
NM_017780.4(CHD7):c.2499-18A>G
NM_017780.4(CHD7):c.2499-19T>C
NM_017780.4(CHD7):c.2499-19del rs757104700
NM_017780.4(CHD7):c.2521G>A (p.Ala841Thr)
NM_017780.4(CHD7):c.257C>T (p.Pro86Leu)
NM_017780.4(CHD7):c.2600A>G (p.Lys867Arg)
NM_017780.4(CHD7):c.2613+11C>T
NM_017780.4(CHD7):c.2613+19C>A
NM_017780.4(CHD7):c.2613+23del
NM_017780.4(CHD7):c.2613+8dup rs2150739145
NM_017780.4(CHD7):c.2613+9_2613+10dup
NM_017780.4(CHD7):c.2614-11dup
NM_017780.4(CHD7):c.2614-14T>C
NM_017780.4(CHD7):c.2614-9T>C rs2150745067
NM_017780.4(CHD7):c.2625G>A (p.Glu875=) rs2150745168
NM_017780.4(CHD7):c.2677A>G (p.Ser893Gly)
NM_017780.4(CHD7):c.2697+12T>C
NM_017780.4(CHD7):c.2697+7G>A
NM_017780.4(CHD7):c.2698-19T>G
NM_017780.4(CHD7):c.2698-9C>T
NM_017780.4(CHD7):c.2730A>G (p.Ser910=)
NM_017780.4(CHD7):c.2766G>A (p.Gln922=)
NM_017780.4(CHD7):c.2769C>T (p.Asp923=) rs1375498221
NM_017780.4(CHD7):c.2775T>A (p.Asp925Glu)
NM_017780.4(CHD7):c.2787C>A (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.2787C>G (p.Ile929Met) rs771367272
NM_017780.4(CHD7):c.2787C>T (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.279C>T (p.Thr93=) rs2150577775
NM_017780.4(CHD7):c.27T>G (p.Leu9=)
NM_017780.4(CHD7):c.2835+18G>A
NM_017780.4(CHD7):c.2836-10T>A
NM_017780.4(CHD7):c.2836-13A>G rs757536080
NM_017780.4(CHD7):c.2836-16A>C
NM_017780.4(CHD7):c.2836-16A>G
NM_017780.4(CHD7):c.2868G>A (p.Ser956=)
NM_017780.4(CHD7):c.2880G>A (p.Arg960=)
NM_017780.4(CHD7):c.2898C>T (p.Asn966=)
NM_017780.4(CHD7):c.2957+11C>G
NM_017780.4(CHD7):c.2957+15T>A
NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met) rs1206578296
NM_017780.4(CHD7):c.3031T>C (p.Tyr1011His)
NM_017780.4(CHD7):c.3033T>C (p.Tyr1011=)
NM_017780.4(CHD7):c.3069C>G (p.Ala1023=)
NM_017780.4(CHD7):c.306C>T (p.His102=) rs368111535
NM_017780.4(CHD7):c.3072A>G (p.Pro1024=) rs2150750309
NM_017780.4(CHD7):c.3073T>C (p.Leu1025=)
NM_017780.4(CHD7):c.3078C>T (p.Ser1026=)
NM_017780.4(CHD7):c.309G>C (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.3111C>A (p.Thr1037=) rs1586391319
NM_017780.4(CHD7):c.3155G>C (p.Ser1052Thr)
NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln) rs750203389
NM_017780.4(CHD7):c.318C>T (p.His106=) rs2150577900
NM_017780.4(CHD7):c.3191A>G (p.Lys1064Arg) rs771941657
NM_017780.4(CHD7):c.3198C>G (p.Pro1066=)
NM_017780.4(CHD7):c.3201+10C>T
NM_017780.4(CHD7):c.3201+16T>G
NM_017780.4(CHD7):c.3202-18T>C
NM_017780.4(CHD7):c.3202-6T>C
NM_017780.4(CHD7):c.320C>A (p.Thr107Asn)
NM_017780.4(CHD7):c.3267T>G (p.Thr1089=) rs1804154884
NM_017780.4(CHD7):c.327C>G (p.Pro109=)
NM_017780.4(CHD7):c.327C>T (p.Pro109=)
NM_017780.4(CHD7):c.3288T>C (p.Asn1096=)
NM_017780.4(CHD7):c.3291T>C (p.Ile1097=) rs551443626
NM_017780.4(CHD7):c.3306A>G (p.Val1102=)
NM_017780.4(CHD7):c.3336C>T (p.Asn1112=)
NM_017780.4(CHD7):c.3351G>C (p.Leu1117=)
NM_017780.4(CHD7):c.3378+14T>C
NM_017780.4(CHD7):c.3379-12G>C
NM_017780.4(CHD7):c.3381A>G (p.Glu1127=) rs1015914018
NM_017780.4(CHD7):c.3382C>T (p.His1128Tyr)
NM_017780.4(CHD7):c.3394C>T (p.Leu1132=) rs769233218
NM_017780.4(CHD7):c.3399G>A (p.Thr1133=) rs537533901
NM_017780.4(CHD7):c.3405C>T (p.Thr1135=) rs1427044855
NM_017780.4(CHD7):c.3483A>C (p.Thr1161=)
NM_017780.4(CHD7):c.34G>A (p.Glu12Lys)
NM_017780.4(CHD7):c.3504T>C (p.Asp1168=)
NM_017780.4(CHD7):c.351C>G (p.Gly117=)
NM_017780.4(CHD7):c.3522+11G>C rs1266763613
NM_017780.4(CHD7):c.3522+19T>C
NM_017780.4(CHD7):c.3522+20T>C
NM_017780.4(CHD7):c.3522+20T>G rs577146364
NM_017780.4(CHD7):c.3523-15A>G rs2150764543
NM_017780.4(CHD7):c.3561G>A (p.Leu1187=)
NM_017780.4(CHD7):c.3576G>A (p.Glu1192=)
NM_017780.4(CHD7):c.3579T>C (p.Asp1193=)
NM_017780.4(CHD7):c.3591C>T (p.Asn1197=)
NM_017780.4(CHD7):c.3606A>G (p.Glu1202=)
NM_017780.4(CHD7):c.3654C>T (p.Tyr1218=) rs1563638250
NM_017780.4(CHD7):c.3657A>T (p.Arg1219=)
NM_017780.4(CHD7):c.3698G>A (p.Gly1233Asp)
NM_017780.4(CHD7):c.36G>A (p.Glu12=)
NM_017780.4(CHD7):c.3705A>T (p.Gln1235His)
NM_017780.4(CHD7):c.3708T>C (p.Ala1236=) rs2150764981
NM_017780.4(CHD7):c.3764C>T (p.Pro1255Leu)
NM_017780.4(CHD7):c.3778+11C>T
NM_017780.4(CHD7):c.3778+19C>T
NM_017780.4(CHD7):c.3778+20G>A
NM_017780.4(CHD7):c.3778+20G>C
NM_017780.4(CHD7):c.3778+8T>C
NM_017780.4(CHD7):c.3778+9G>T
NM_017780.4(CHD7):c.3779-13C>T
NM_017780.4(CHD7):c.3779-15G>A rs2150775393
NM_017780.4(CHD7):c.3779-18G>A rs2150775387
NM_017780.4(CHD7):c.3779-18G>C
NM_017780.4(CHD7):c.3779-19T>C
NM_017780.4(CHD7):c.3779-7T>G
NM_017780.4(CHD7):c.3804G>C (p.Glu1268Asp)
NM_017780.4(CHD7):c.3850G>A (p.Ala1284Thr)
NM_017780.4(CHD7):c.3852A>T (p.Ala1284=)
NM_017780.4(CHD7):c.3858C>A (p.Ile1286=)
NM_017780.4(CHD7):c.3858C>T (p.Ile1286=)
NM_017780.4(CHD7):c.3867T>A (p.Ala1289=)
NM_017780.4(CHD7):c.3885T>A (p.Ile1295=)
NM_017780.4(CHD7):c.3900A>G (p.Pro1300=) rs2150775740
NM_017780.4(CHD7):c.3912T>G (p.Ala1304=) rs371595829
NM_017780.4(CHD7):c.3924G>A (p.Arg1308=)
NM_017780.4(CHD7):c.3950G>A (p.Arg1317His)
NM_017780.4(CHD7):c.3963A>C (p.Ile1321=)
NM_017780.4(CHD7):c.3979A>G (p.Ile1327Val)
NM_017780.4(CHD7):c.3989+11C>T rs2150775930
NM_017780.4(CHD7):c.3990-11A>T
NM_017780.4(CHD7):c.3990-8T>C
NM_017780.4(CHD7):c.3990-9G>A
NM_017780.4(CHD7):c.4020A>G (p.Val1340=)
NM_017780.4(CHD7):c.4028A>G (p.Asn1343Ser)
NM_017780.4(CHD7):c.4030C>T (p.Leu1344Phe) rs1478092831
NM_017780.4(CHD7):c.4056C>T (p.Phe1352=) rs2150777183
NM_017780.4(CHD7):c.4092G>A (p.Leu1364=)
NM_017780.4(CHD7):c.411C>G (p.Ser137=) rs1317598292
NM_017780.4(CHD7):c.4125C>T (p.Leu1375=)
NM_017780.4(CHD7):c.4170C>T (p.Pro1390=) rs907362259
NM_017780.4(CHD7):c.417G>A (p.Val139=) rs2150578159
NM_017780.4(CHD7):c.4182C>G (p.Leu1394=) rs375867019
NM_017780.4(CHD7):c.4185+17G>A
NM_017780.4(CHD7):c.4217G>A (p.Ser1406Asn)
NM_017780.4(CHD7):c.4224T>C (p.Ser1408=) rs2150778596
NM_017780.4(CHD7):c.4230A>G (p.Lys1410=)
NM_017780.4(CHD7):c.4245T>A (p.Ile1415=) rs2150778641
NM_017780.4(CHD7):c.4257C>T (p.Ser1419=)
NM_017780.4(CHD7):c.4281G>A (p.Lys1427=) rs2150778687
NM_017780.4(CHD7):c.42G>A (p.Gly14=) rs1215319146
NM_017780.4(CHD7):c.4317A>G (p.Leu1439=)
NM_017780.4(CHD7):c.4353+12C>G
NM_017780.4(CHD7):c.4354-12T>G
NM_017780.4(CHD7):c.4394G>A (p.Arg1465Gln)
NM_017780.4(CHD7):c.4395A>G (p.Arg1465=)
NM_017780.4(CHD7):c.4404C>T (p.Ala1468=) rs1214452736
NM_017780.4(CHD7):c.440C>T (p.Pro147Leu)
NM_017780.4(CHD7):c.442A>C (p.Arg148=)
NM_017780.4(CHD7):c.443G>A (p.Arg148Lys)
NM_017780.4(CHD7):c.4473C>T (p.Leu1491=)
NM_017780.4(CHD7):c.4476A>C (p.Leu1492=)
NM_017780.4(CHD7):c.4476A>G (p.Leu1492=)
NM_017780.4(CHD7):c.4524A>G (p.Thr1508=)
NM_017780.4(CHD7):c.4533+10G>A
NM_017780.4(CHD7):c.4533+7A>C
NM_017780.4(CHD7):c.4534-11T>C rs2150785971
NM_017780.4(CHD7):c.4534-12T>C
NM_017780.4(CHD7):c.4534-20C>A rs727503866
NM_017780.4(CHD7):c.4534-7T>G rs757333865
NM_017780.4(CHD7):c.4573T>C (p.Leu1525=)
NM_017780.4(CHD7):c.4605T>C (p.Ala1535=)
NM_017780.4(CHD7):c.4614T>C (p.Ala1538=) rs2150786158
NM_017780.4(CHD7):c.4641G>C (p.Gly1547=)
NM_017780.4(CHD7):c.4644+11A>C
NM_017780.4(CHD7):c.4644+14C>A
NM_017780.4(CHD7):c.4644+15C>A
NM_017780.4(CHD7):c.4644+16C>T
NM_017780.4(CHD7):c.4644+9_4644+10insTTG rs1363820681
NM_017780.4(CHD7):c.4645-15C>G rs949803813
NM_017780.4(CHD7):c.4645-16C>T rs1487936420
NM_017780.4(CHD7):c.4683G>A (p.Gln1561=)
NM_017780.4(CHD7):c.4686C>A (p.Thr1562=)
NM_017780.4(CHD7):c.4688G>A (p.Arg1563Lys)
NM_017780.4(CHD7):c.4707G>A (p.Lys1569=)
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu) rs1434566381
NM_017780.4(CHD7):c.4737G>C (p.Leu1579Phe)
NM_017780.4(CHD7):c.4779T>C (p.Arg1593=)
NM_017780.4(CHD7):c.4779T>G (p.Arg1593=)
NM_017780.4(CHD7):c.4800C>T (p.Gly1600=)
NM_017780.4(CHD7):c.4807A>C (p.Arg1603=)
NM_017780.4(CHD7):c.4824G>A (p.Arg1608=)
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=) rs1164615393
NM_017780.4(CHD7):c.4850+11C>T
NM_017780.4(CHD7):c.4850+8_4850+9insATTTTTTTTG rs2150787035
NM_017780.4(CHD7):c.4850+9G>T rs2150787043
NM_017780.4(CHD7):c.4851-18T>C
NM_017780.4(CHD7):c.4851-4G>T
NM_017780.4(CHD7):c.4851T>G (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.4857A>G (p.Gly1619=)
NM_017780.4(CHD7):c.4860G>A (p.Arg1620=)
NM_017780.4(CHD7):c.4879C>T (p.His1627Tyr)
NM_017780.4(CHD7):c.4897C>G (p.Gln1633Glu)
NM_017780.4(CHD7):c.4917A>G (p.Val1639=)
NM_017780.4(CHD7):c.4968G>A (p.Gly1656=)
NM_017780.4(CHD7):c.5022C>T (p.Gly1674=)
NM_017780.4(CHD7):c.5030G>A (p.Arg1677Gln)
NM_017780.4(CHD7):c.5043C>T (p.Asn1681=)
NM_017780.4(CHD7):c.5050+13C>T
NM_017780.4(CHD7):c.5050+17C>G rs907564726
NM_017780.4(CHD7):c.5050+17C>T
NM_017780.4(CHD7):c.5050+19G>A rs1371167281
NM_017780.4(CHD7):c.5050+7C>T rs2150793457
NM_017780.4(CHD7):c.5050+9C>G
NM_017780.4(CHD7):c.5051-17T>A
NM_017780.4(CHD7):c.5051-20T>A rs1394727727
NM_017780.4(CHD7):c.5051-4C>G rs71640288
NM_017780.4(CHD7):c.5058A>G (p.Ser1686=) rs1586432209
NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg)
NM_017780.4(CHD7):c.5092G>T (p.Val1698Leu) rs777744183
NM_017780.4(CHD7):c.515C>T (p.Pro172Leu)
NM_017780.4(CHD7):c.5166C>T (p.Phe1722=)
NM_017780.4(CHD7):c.5172G>A (p.Glu1724=) rs1554602576
NM_017780.4(CHD7):c.518C>T (p.Ala173Val)
NM_017780.4(CHD7):c.5202C>T (p.His1734=) rs1805162254
NM_017780.4(CHD7):c.5210+12G>C
NM_017780.4(CHD7):c.5210+14G>C rs570609542
NM_017780.4(CHD7):c.5210+16G>A
NM_017780.4(CHD7):c.5210+9T>G rs753589296
NM_017780.4(CHD7):c.5211-14G>A
NM_017780.4(CHD7):c.5211-16_5211-15del rs771116507
NM_017780.4(CHD7):c.5211-17T>A
NM_017780.4(CHD7):c.5211-18C>A
NM_017780.4(CHD7):c.5211-18C>G rs749368541
NM_017780.4(CHD7):c.5211-18C>T rs749368541
NM_017780.4(CHD7):c.5211-19C>G
NM_017780.4(CHD7):c.5211-3del rs1586437092
NM_017780.4(CHD7):c.5215C>T (p.Leu1739=)
NM_017780.4(CHD7):c.5250A>G (p.Gln1750=)
NM_017780.4(CHD7):c.5256G>A (p.Val1752=) rs1300830933
NM_017780.4(CHD7):c.5277G>A (p.Lys1759=)
NM_017780.4(CHD7):c.5300+11G>A
NM_017780.4(CHD7):c.5300+12C>T
NM_017780.4(CHD7):c.5300+8C>A
NM_017780.4(CHD7):c.5300+9G>A
NM_017780.4(CHD7):c.5301-10T>G
NM_017780.4(CHD7):c.5301-17T>C rs768143056
NM_017780.4(CHD7):c.531C>T (p.Pro177=)
NM_017780.4(CHD7):c.5337T>C (p.Ala1779=)
NM_017780.4(CHD7):c.5340A>G (p.Glu1780=) rs2150801685
NM_017780.4(CHD7):c.5379C>T (p.Ser1793=)
NM_017780.4(CHD7):c.5382C>T (p.Leu1794=) rs559748498
NM_017780.4(CHD7):c.5404+14C>T rs2150801886
NM_017780.4(CHD7):c.5405-6G>A
NM_017780.4(CHD7):c.5433T>C (p.Ala1811=)
NM_017780.4(CHD7):c.5447G>C (p.Cys1816Ser)
NM_017780.4(CHD7):c.5499A>G (p.Gln1833=)
NM_017780.4(CHD7):c.54T>C (p.Ser18=) rs2150577330
NM_017780.4(CHD7):c.5512A>G (p.Met1838Val)
NM_017780.4(CHD7):c.5520A>G (p.Ala1840=) rs2150804893
NM_017780.4(CHD7):c.5534+19A>C
NM_017780.4(CHD7):c.5535-19T>C
NM_017780.4(CHD7):c.5535-20T>C rs1394659038
NM_017780.4(CHD7):c.5553A>G (p.Glu1851=)
NM_017780.4(CHD7):c.5574A>G (p.Lys1858=)
NM_017780.4(CHD7):c.557T>C (p.Met186Thr)
NM_017780.4(CHD7):c.5589G>T (p.Pro1863=)
NM_017780.4(CHD7):c.5607+13G>A
NM_017780.4(CHD7):c.5607+14T>C
NM_017780.4(CHD7):c.5607+7A>G rs1805434580
NM_017780.4(CHD7):c.5608-13C>G
NM_017780.4(CHD7):c.5608-20T>A
NM_017780.4(CHD7):c.5608-7T>G
NM_017780.4(CHD7):c.5625T>G (p.Pro1875=)
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly) rs749861487
NM_017780.4(CHD7):c.5633A>T (p.Asp1878Val)
NM_017780.4(CHD7):c.5665+13A>G rs2150806324
NM_017780.4(CHD7):c.5665+18C>G
NM_017780.4(CHD7):c.5665+7T>C
NM_017780.4(CHD7):c.5666-16T>G
NM_017780.4(CHD7):c.5666-18G>A
NM_017780.4(CHD7):c.5666-19T>C rs1805474762
NM_017780.4(CHD7):c.5666-5C>T
NM_017780.4(CHD7):c.5727G>A (p.Leu1909=) rs2150807633
NM_017780.4(CHD7):c.5763G>A (p.Gln1921=) rs2150807756
NM_017780.4(CHD7):c.5765G>A (p.Arg1922His)
NM_017780.4(CHD7):c.5778G>A (p.Arg1926=)
NM_017780.4(CHD7):c.5798C>A (p.Ala1933Asp) rs773867024
NM_017780.4(CHD7):c.5833C>A (p.Arg1945=) rs757160222
NM_017780.4(CHD7):c.5833C>G (p.Arg1945Gly) rs757160222
NM_017780.4(CHD7):c.5887C>T (p.Arg1963Trp)
NM_017780.4(CHD7):c.588G>C (p.Gly196=)
NM_017780.4(CHD7):c.5894+15G>T
NM_017780.4(CHD7):c.5895-18A>G
NM_017780.4(CHD7):c.5895-18_5895-17insGA rs1805499097
NM_017780.4(CHD7):c.5895-5A>T rs1805499680
NM_017780.4(CHD7):c.591T>C (p.Asp197=)
NM_017780.4(CHD7):c.5925C>T (p.Tyr1975=) rs2150808715
NM_017780.4(CHD7):c.5931G>A (p.Val1977=)
NM_017780.4(CHD7):c.5961T>C (p.Pro1987=)
NM_017780.4(CHD7):c.5973A>G (p.Gln1991=) rs768313777
NM_017780.4(CHD7):c.5988A>G (p.Gln1996=) rs2150808862
NM_017780.4(CHD7):c.6033G>A (p.Leu2011=)
NM_017780.4(CHD7):c.6042C>T (p.Tyr2014=)
NM_017780.4(CHD7):c.6090C>A (p.Val2030=) rs2150809096
NM_017780.4(CHD7):c.6103+19A>G
NM_017780.4(CHD7):c.6104-12del
NM_017780.4(CHD7):c.6117C>A (p.Leu2039=)
NM_017780.4(CHD7):c.6138C>T (p.Ile2046=) rs2150809518
NM_017780.4(CHD7):c.6147G>A (p.Glu2049=) rs2150809533
NM_017780.4(CHD7):c.6153C>T (p.Ala2051=) rs759326626
NM_017780.4(CHD7):c.6180G>T (p.Leu2060=)
NM_017780.4(CHD7):c.6231G>A (p.Arg2077=) rs1805526666
NM_017780.4(CHD7):c.6240C>G (p.Leu2080=)
NM_017780.4(CHD7):c.6282A>T (p.Gly2094=)
NM_017780.4(CHD7):c.6283C>T (p.Arg2095Trp)
NM_017780.4(CHD7):c.6285G>T (p.Arg2095=)
NM_017780.4(CHD7):c.6286C>T (p.His2096Tyr)
NM_017780.4(CHD7):c.6327C>T (p.Val2109=) rs2150810128
NM_017780.4(CHD7):c.6332G>A (p.Arg2111Gln)
NM_017780.4(CHD7):c.6369C>T (p.Ser2123=)
NM_017780.4(CHD7):c.6379G>A (p.Ala2127Thr)
NM_017780.4(CHD7):c.6381A>G (p.Ala2127=)
NM_017780.4(CHD7):c.6383A>G (p.His2128Arg)
NM_017780.4(CHD7):c.6393T>C (p.Phe2131=) rs2150810295
NM_017780.4(CHD7):c.6399A>G (p.Gln2133=)
NM_017780.4(CHD7):c.6435A>G (p.Pro2145=) rs1402557358
NM_017780.4(CHD7):c.6436C>T (p.Leu2146=) rs2150810421
NM_017780.4(CHD7):c.6468C>G (p.Val2156=)
NM_017780.4(CHD7):c.651A>G (p.Gln217=)
NM_017780.4(CHD7):c.6531G>A (p.Glu2177=)
NM_017780.4(CHD7):c.6588C>T (p.Thr2196=)
NM_017780.4(CHD7):c.6594C>T (p.Gly2198=)
NM_017780.4(CHD7):c.6597C>T (p.Ser2199=)
NM_017780.4(CHD7):c.6598G>T (p.Gly2200Trp)
NM_017780.4(CHD7):c.6600G>A (p.Gly2200=) rs2150811019
NM_017780.4(CHD7):c.6603G>A (p.Lys2201=) rs1586446721
NM_017780.4(CHD7):c.660C>T (p.Leu220=) rs1177262261
NM_017780.4(CHD7):c.6639T>C (p.Ser2213=)
NM_017780.4(CHD7):c.6690A>G (p.Lys2230=)
NM_017780.4(CHD7):c.6693T>C (p.Ser2231=)
NM_017780.4(CHD7):c.669A>G (p.Gly223=)
NM_017780.4(CHD7):c.6771C>A (p.Pro2257=) rs367615733
NM_017780.4(CHD7):c.6775+19C>T
NM_017780.4(CHD7):c.6776-12C>T
NM_017780.4(CHD7):c.6776-13A>G rs2150813272
NM_017780.4(CHD7):c.6776-15T>G
NM_017780.4(CHD7):c.6776-5C>A
NM_017780.4(CHD7):c.6780A>G (p.Gly2260=)
NM_017780.4(CHD7):c.6818A>G (p.Asn2273Ser) rs745361070
NM_017780.4(CHD7):c.6826A>G (p.Met2276Val)
NM_017780.4(CHD7):c.6864C>T (p.Tyr2288=) rs2150813513
NM_017780.4(CHD7):c.6873C>T (p.Asp2291=)
NM_017780.4(CHD7):c.6880C>T (p.Pro2294Ser) rs767696409
NM_017780.4(CHD7):c.690A>G (p.Ser230=) rs926628835
NM_017780.4(CHD7):c.6923C>T (p.Ser2308Leu)
NM_017780.4(CHD7):c.6924G>C (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6933T>C (p.Pro2311=)
NM_017780.4(CHD7):c.6936+7A>T
NM_017780.4(CHD7):c.6936+9G>A
NM_017780.4(CHD7):c.6937-13C>T
NM_017780.4(CHD7):c.6937-19A>G
NM_017780.4(CHD7):c.6981G>A (p.Val2327=)
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.6993A>G (p.Lys2331=)
NM_017780.4(CHD7):c.699C>T (p.Gly233=) rs2150578946
NM_017780.4(CHD7):c.6A>G (p.Ala2=) rs1331575367
NM_017780.4(CHD7):c.7000G>C (p.Val2334Leu)
NM_017780.4(CHD7):c.7006A>C (p.Arg2336=)
NM_017780.4(CHD7):c.7038C>T (p.Ile2346=) rs2129642777
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp) rs754527047
NM_017780.4(CHD7):c.7062G>A (p.Val2354=)
NM_017780.4(CHD7):c.7083G>A (p.Arg2361=) rs1325869967
NM_017780.4(CHD7):c.708C>T (p.Ser236=) rs2150578971
NM_017780.4(CHD7):c.7092T>C (p.Ala2364=) rs2129643396
NM_017780.4(CHD7):c.7101C>T (p.Ser2367=)
NM_017780.4(CHD7):c.7108G>C (p.Gly2370Arg)
NM_017780.4(CHD7):c.712G>C (p.Val238Leu)
NM_017780.4(CHD7):c.7146G>T (p.Thr2382=)
NM_017780.4(CHD7):c.7155G>A (p.Gln2385=) rs867921812
NM_017780.4(CHD7):c.7164+14G>C
NM_017780.4(CHD7):c.7164+16T>C
NM_017780.4(CHD7):c.7165-16T>C
NM_017780.4(CHD7):c.7165-18G>A
NM_017780.4(CHD7):c.7171G>T (p.Ala2391Ser)
NM_017780.4(CHD7):c.7173C>T (p.Ala2391=) rs545381857
NM_017780.4(CHD7):c.7233C>A (p.Ala2411=)
NM_017780.4(CHD7):c.723G>C (p.Gln241His)
NM_017780.4(CHD7):c.7245C>T (p.Ala2415=)
NM_017780.4(CHD7):c.7267A>G (p.Met2423Val) rs1293236067
NM_017780.4(CHD7):c.7297G>A (p.Val2433Ile) rs766091347
NM_017780.4(CHD7):c.72C>G (p.Leu24=) rs267601960
NM_017780.4(CHD7):c.72C>T (p.Leu24=) rs267601960
NM_017780.4(CHD7):c.7320A>G (p.Lys2440=)
NM_017780.4(CHD7):c.732C>G (p.Ser244Arg) rs779776551
NM_017780.4(CHD7):c.7377A>G (p.Ser2459=)
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys) rs398124323
NM_017780.4(CHD7):c.7455C>T (p.Leu2485=)
NM_017780.4(CHD7):c.7458A>G (p.Gln2486=) rs2129651419
NM_017780.4(CHD7):c.7469C>G (p.Ser2490Trp) rs371595770
NM_017780.4(CHD7):c.7470G>A (p.Ser2490=)
NM_017780.4(CHD7):c.7470G>C (p.Ser2490=) rs780608336
NM_017780.4(CHD7):c.7488T>C (p.His2496=) rs995534410
NM_017780.4(CHD7):c.7491C>G (p.Leu2497=)
NM_017780.4(CHD7):c.7497T>C (p.Asn2499=) rs1026956983
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=) rs1805737676
NM_017780.4(CHD7):c.7530G>A (p.Lys2510=) rs1563665717
NM_017780.4(CHD7):c.7569T>C (p.Asp2523=)
NM_017780.4(CHD7):c.756G>T (p.Ser252=)
NM_017780.4(CHD7):c.7586A>G (p.His2529Arg)
NM_017780.4(CHD7):c.7608+7dup
NM_017780.4(CHD7):c.7608+9G>T rs2129654194
NM_017780.4(CHD7):c.7609-12A>C
NM_017780.4(CHD7):c.7609-18A>G
NM_017780.4(CHD7):c.7609-7T>C rs745569961
NM_017780.4(CHD7):c.7612G>A (p.Asp2538Asn)
NM_017780.4(CHD7):c.7620G>A (p.Glu2540=) rs2129702757
NM_017780.4(CHD7):c.762G>A (p.Gln254=) rs2150579148
NM_017780.4(CHD7):c.7650G>A (p.Glu2550=) rs1173503101
NM_017780.4(CHD7):c.7672C>T (p.Pro2558Ser)
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu) rs1046787337
NM_017780.4(CHD7):c.7692C>T (p.Asp2564=)
NM_017780.4(CHD7):c.7703G>A (p.Arg2568Gln)
NM_017780.4(CHD7):c.7713T>C (p.Val2571=)
NM_017780.4(CHD7):c.7743G>A (p.Val2581=)
NM_017780.4(CHD7):c.7743G>C (p.Val2581=)
NM_017780.4(CHD7):c.7767G>A (p.Lys2589=) rs2129705530
NM_017780.4(CHD7):c.780C>T (p.Pro260=) rs2150579200
NM_017780.4(CHD7):c.7821T>C (p.Ser2607=)
NM_017780.4(CHD7):c.7830+20G>A
NM_017780.4(CHD7):c.7830+8T>C
NM_017780.4(CHD7):c.7831-12T>C
NM_017780.4(CHD7):c.7831-14T>C
NM_017780.4(CHD7):c.7831-17T>C rs777041721
NM_017780.4(CHD7):c.7831-20A>G
NM_017780.4(CHD7):c.7831-5T>C rs770131922
NM_017780.4(CHD7):c.7869G>A (p.Pro2623=) rs1338609969
NM_017780.4(CHD7):c.786T>C (p.Thr262=)
NM_017780.4(CHD7):c.7892G>A (p.Arg2631Gln)
NM_017780.4(CHD7):c.789T>A (p.Ala263=)
NM_017780.4(CHD7):c.789T>C (p.Ala263=)
NM_017780.4(CHD7):c.7914A>C (p.Ile2638=)
NM_017780.4(CHD7):c.7971+11G>A rs2129722219
NM_017780.4(CHD7):c.7971+15A>G
NM_017780.4(CHD7):c.7971+17G>T
NM_017780.4(CHD7):c.7971+8C>T rs1295446479
NM_017780.4(CHD7):c.7972-8C>T
NM_017780.4(CHD7):c.7988C>T (p.Ala2663Val)
NM_017780.4(CHD7):c.800A>G (p.Glu267Gly)
NM_017780.4(CHD7):c.8076+14G>A rs1251720838
NM_017780.4(CHD7):c.8076+14G>T
NM_017780.4(CHD7):c.8076+16A>G rs1236099189
NM_017780.4(CHD7):c.8077-10T>C
NM_017780.4(CHD7):c.8077-12C>T
NM_017780.4(CHD7):c.8077-17C>T
NM_017780.4(CHD7):c.8118G>A (p.Gly2706=) rs952299853
NM_017780.4(CHD7):c.8122G>A (p.Val2708Ile)
NM_017780.4(CHD7):c.8142G>A (p.Ala2714=)
NM_017780.4(CHD7):c.8149A>C (p.Arg2717=) rs2129757721
NM_017780.4(CHD7):c.8178C>T (p.Ala2726=) rs2129758283
NM_017780.4(CHD7):c.8181A>G (p.Arg2727=)
NM_017780.4(CHD7):c.8184A>C (p.Ala2728=)
NM_017780.4(CHD7):c.8187C>T (p.Ala2729=) rs1806178855
NM_017780.4(CHD7):c.8199T>C (p.Ala2733=) rs878855033
NM_017780.4(CHD7):c.81T>C (p.Cys27=)
NM_017780.4(CHD7):c.8202T>C (p.Ala2734=)
NM_017780.4(CHD7):c.8208C>T (p.Ala2736=) rs1346132011
NM_017780.4(CHD7):c.8224A>C (p.Asn2742His)
NM_017780.4(CHD7):c.8262C>T (p.Asp2754=)
NM_017780.4(CHD7):c.8274T>C (p.Leu2758=) rs903775787
NM_017780.4(CHD7):c.8283C>T (p.Leu2761=)
NM_017780.4(CHD7):c.8284C>G (p.Gln2762Glu) rs1286287151
NM_017780.4(CHD7):c.8292C>G (p.Leu2764=) rs1196717284
NM_017780.4(CHD7):c.8307G>A (p.Leu2769=)
NM_017780.4(CHD7):c.8317A>G (p.Met2773Val)
NM_017780.4(CHD7):c.831G>A (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.831G>C (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.831G>T (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.8352C>T (p.Thr2784=)
NM_017780.4(CHD7):c.8383G>A (p.Val2795Met)
NM_017780.4(CHD7):c.8391C>G (p.Pro2797=)
NM_017780.4(CHD7):c.8391C>T (p.Pro2797=)
NM_017780.4(CHD7):c.8439C>G (p.Gly2813=)
NM_017780.4(CHD7):c.8442G>A (p.Gly2814=)
NM_017780.4(CHD7):c.8454C>A (p.Asn2818Lys)
NM_017780.4(CHD7):c.8454C>T (p.Asn2818=)
NM_017780.4(CHD7):c.8481C>T (p.Thr2827=) rs1249032872
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) rs533600930
NM_017780.4(CHD7):c.8492C>G (p.Ser2831Cys) rs1399809223
NM_017780.4(CHD7):c.8516G>A (p.Ser2839Asn)
NM_017780.4(CHD7):c.8553A>G (p.Glu2851=) rs2129765778
NM_017780.4(CHD7):c.8574G>A (p.Glu2858=) rs1806203830
NM_017780.4(CHD7):c.8590G>C (p.Val2864Leu)
NM_017780.4(CHD7):c.8610G>C (p.Ala2870=)
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=) rs375459176
NM_017780.4(CHD7):c.8620G>T (p.Val2874Phe)
NM_017780.4(CHD7):c.8640G>T (p.Pro2880=) rs374937585
NM_017780.4(CHD7):c.8646A>T (p.Gly2882=) rs1586468596
NM_017780.4(CHD7):c.8662C>T (p.Leu2888=) rs1017895981
NM_017780.4(CHD7):c.8664A>G (p.Leu2888=)
NM_017780.4(CHD7):c.867C>A (p.Thr289=)
NM_017780.4(CHD7):c.8694G>A (p.Met2898Ile) rs2129768305
NM_017780.4(CHD7):c.8739G>C (p.Leu2913=) rs746128427
NM_017780.4(CHD7):c.8739G>T (p.Leu2913=)
NM_017780.4(CHD7):c.8744G>T (p.Gly2915Val)
NM_017780.4(CHD7):c.8752C>T (p.Leu2918=) rs1465616826
NM_017780.4(CHD7):c.8775A>C (p.Ala2925=)
NM_017780.4(CHD7):c.8805A>G (p.Glu2935=) rs1563674855
NM_017780.4(CHD7):c.8823G>A (p.Lys2941=)
NM_017780.4(CHD7):c.8869G>A (p.Asp2957Asn)
NM_017780.4(CHD7):c.8871T>C (p.Asp2957=)
NM_017780.4(CHD7):c.8883C>T (p.Ser2961=)
NM_017780.4(CHD7):c.8910C>G (p.Leu2970=)
NM_017780.4(CHD7):c.8949A>G (p.Ser2983=)
NM_017780.4(CHD7):c.8976C>T (p.Asn2992=)
NM_017780.4(CHD7):c.897C>T (p.Val299=)
NM_017780.4(CHD7):c.907A>G (p.Thr303Ala)
NM_017780.4(CHD7):c.924G>T (p.Gly308=)
NM_017780.4(CHD7):c.925C>A (p.Gln309Lys)
NM_017780.4(CHD7):c.951C>T (p.Asn317=) rs770785044
NM_017780.4(CHD7):c.996A>G (p.Leu332=)
NM_023110.3(FGFR1):c.1011G>A (p.Gly337=)
NM_023110.3(FGFR1):c.1020G>A (p.Thr340=)
NM_023110.3(FGFR1):c.1044A>C (p.Gly348=)
NM_023110.3(FGFR1):c.1062A>G (p.Ala354=)
NM_023110.3(FGFR1):c.1081+16T>C rs1414301323
NM_023110.3(FGFR1):c.1081+20_1081+22del
NM_023110.3(FGFR1):c.1081+8C>G
NM_023110.3(FGFR1):c.1081+9T>C
NM_023110.3(FGFR1):c.1082-12G>A
NM_023110.3(FGFR1):c.1082-20C>T
NM_023110.3(FGFR1):c.1096C>T (p.Pro366Ser)
NM_023110.3(FGFR1):c.1113G>A (p.Ser371=)
NM_023110.3(FGFR1):c.112G>A (p.Val38Met)
NM_023110.3(FGFR1):c.1179G>T (p.Ser393=) rs374674165
NM_023110.3(FGFR1):c.1194G>A (p.Lys398=)
NM_023110.3(FGFR1):c.1203T>C (p.Ser401=)
NM_023110.3(FGFR1):c.1239T>C (p.Ala413=)
NM_023110.3(FGFR1):c.1245C>T (p.His415=)
NM_023110.3(FGFR1):c.1248G>A (p.Lys416=)
NM_023110.3(FGFR1):c.1272C>T (p.Arg424=)
NM_023110.3(FGFR1):c.1285-20G>A
NM_023110.3(FGFR1):c.1285-5T>C
NM_023110.3(FGFR1):c.1285-8C>A rs1235765985
NM_023110.3(FGFR1):c.1285-8C>G
NM_023110.3(FGFR1):c.1296C>T (p.Asp432=) rs1377886104
NM_023110.3(FGFR1):c.1324C>T (p.Leu442Phe)
NM_023110.3(FGFR1):c.1329G>A (p.Leu443=)
NM_023110.3(FGFR1):c.1356T>C (p.Ser452=)
NM_023110.3(FGFR1):c.141C>G (p.Pro47=) rs553706848
NM_023110.3(FGFR1):c.141C>T (p.Pro47=)
NM_023110.3(FGFR1):c.1431-10C>T
NM_023110.3(FGFR1):c.1431-19T>A
NM_023110.3(FGFR1):c.1431-20CT[2] rs774739614
NM_023110.3(FGFR1):c.1431-7C>T
NM_023110.3(FGFR1):c.1443C>G (p.Gly481=) rs2150658041
NM_023110.3(FGFR1):c.1443C>T (p.Gly481=)
NM_023110.3(FGFR1):c.1473G>A (p.Gln491=)
NM_023110.3(FGFR1):c.1494C>T (p.Ile498=)
NM_023110.3(FGFR1):c.1509C>T (p.Asp503=)
NM_023110.3(FGFR1):c.1552+12T>C rs777138222
NM_023110.3(FGFR1):c.1552+8A>G
NM_023110.3(FGFR1):c.1553-14C>T
NM_023110.3(FGFR1):c.1617G>A (p.Gly539=)
NM_023110.3(FGFR1):c.162C>G (p.Arg54=)
NM_023110.3(FGFR1):c.1663+20G>A
NM_023110.3(FGFR1):c.1664-18C>T
NM_023110.3(FGFR1):c.1680C>T (p.Ile560=) rs1019589019
NM_023110.3(FGFR1):c.1686G>A (p.Glu562=)
NM_023110.3(FGFR1):c.1689T>C (p.Tyr563=) rs2150591250
NM_023110.3(FGFR1):c.1716C>T (p.Tyr572=)
NM_023110.3(FGFR1):c.1731G>A (p.Arg577=)
NM_023110.3(FGFR1):c.1770C>T (p.Asn590=) rs2150585961
NM_023110.3(FGFR1):c.1815C>T (p.Tyr605=) rs374740971
NM_023110.3(FGFR1):c.182T>C (p.Val61Ala)
NM_023110.3(FGFR1):c.1845C>A (p.Ala615=)
NM_023110.3(FGFR1):c.1854+14A>C
NM_023110.3(FGFR1):c.1854+17C>T
NM_023110.3(FGFR1):c.1855-14_1855-11del
NM_023110.3(FGFR1):c.1855-5C>T
NM_023110.3(FGFR1):c.1855-8T>C
NM_023110.3(FGFR1):c.1875A>G (p.Ala625=)
NM_023110.3(FGFR1):c.1932C>T (p.Leu644=)
NM_023110.3(FGFR1):c.1977+12C>G
NM_023110.3(FGFR1):c.1977+15G>A
NM_023110.3(FGFR1):c.1977+19G>A
NM_023110.3(FGFR1):c.1977+20C>T
NM_023110.3(FGFR1):c.1978-15C>T
NM_023110.3(FGFR1):c.1978-17C>T
NM_023110.3(FGFR1):c.2046T>C (p.Asp682=)
NM_023110.3(FGFR1):c.2048+13T>C
NM_023110.3(FGFR1):c.2061G>C (p.Gly687=)
NM_023110.3(FGFR1):c.207C>T (p.Asp69=)
NM_023110.3(FGFR1):c.2086C>T (p.Leu696=)
NM_023110.3(FGFR1):c.2163G>A (p.Lys721=)
NM_023110.3(FGFR1):c.2186+11G>A
NM_023110.3(FGFR1):c.2186+12_2186+14del rs1218085532
NM_023110.3(FGFR1):c.2186+20G>A
NM_023110.3(FGFR1):c.2186+9G>A
NM_023110.3(FGFR1):c.2187-15A>G
NM_023110.3(FGFR1):c.2187-18C>G rs2150525040
NM_023110.3(FGFR1):c.2187-19C>A rs376583717
NM_023110.3(FGFR1):c.2187-19C>T rs376583717
NM_023110.3(FGFR1):c.2187-4G>A
NM_023110.3(FGFR1):c.222G>A (p.Ala74=)
NM_023110.3(FGFR1):c.222G>C (p.Ala74=) rs748896706
NM_023110.3(FGFR1):c.2259C>T (p.Asp753=)
NM_023110.3(FGFR1):c.228C>T (p.Ser76=)
NM_023110.3(FGFR1):c.2292+12C>T
NM_023110.3(FGFR1):c.2292+13G>A
NM_023110.3(FGFR1):c.2292+9G>A rs2150517873
NM_023110.3(FGFR1):c.2293-12C>G
NM_023110.3(FGFR1):c.2293-12C>T
NM_023110.3(FGFR1):c.2367C>T (p.Ser789=)
NM_023110.3(FGFR1):c.2370A>G (p.Ser790=)
NM_023110.3(FGFR1):c.2382C>T (p.Ser794=)
NM_023110.3(FGFR1):c.2406C>T (p.Pro802=) rs573344794
NM_023110.3(FGFR1):c.2430C>T (p.His810=)
NM_023110.3(FGFR1):c.2433A>T (p.Pro811=) rs770921947
NM_023110.3(FGFR1):c.262G>T (p.Val88Leu)
NM_023110.3(FGFR1):c.279C>G (p.Pro93=) rs781034707
NM_023110.3(FGFR1):c.27C>T (p.Phe9=)
NM_023110.3(FGFR1):c.303C>T (p.Cys101=)
NM_023110.3(FGFR1):c.311G>A (p.Ser104Asn)
NM_023110.3(FGFR1):c.321G>A (p.Ser107=)
NM_023110.3(FGFR1):c.330C>T (p.Asp110=)
NM_023110.3(FGFR1):c.33T>C (p.Ala11=)
NM_023110.3(FGFR1):c.342C>T (p.Phe114=)
NM_023110.3(FGFR1):c.358+11A>G
NM_023110.3(FGFR1):c.358+18G>A rs375458309
NM_023110.3(FGFR1):c.358+19C>A
NM_023110.3(FGFR1):c.358+9C>A
NM_023110.3(FGFR1):c.359-15TTC[2] rs768778460
NM_023110.3(FGFR1):c.359-18C>T rs1177584027
NM_023110.3(FGFR1):c.359-5C>G
NM_023110.3(FGFR1):c.363T>A (p.Ala121=)
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del) rs138489552
NM_023110.3(FGFR1):c.411G>A (p.Glu137=) rs1010621186
NM_023110.3(FGFR1):c.42C>T (p.Val14=)
NM_023110.3(FGFR1):c.471C>G (p.Ser157=) rs376497452
NM_023110.3(FGFR1):c.51A>G (p.Thr17=)
NM_023110.3(FGFR1):c.597T>C (p.Pro199=)
NM_023110.3(FGFR1):c.621+14C>A
NM_023110.3(FGFR1):c.621+17G>A
NM_023110.3(FGFR1):c.621+18C>A
NM_023110.3(FGFR1):c.622-9del
NM_023110.3(FGFR1):c.687C>T (p.Thr229=)
NM_023110.3(FGFR1):c.711C>T (p.Gly237=)
NM_023110.3(FGFR1):c.714C>T (p.Ser238=) rs1586315279
NM_023110.3(FGFR1):c.745+13del
NM_023110.3(FGFR1):c.746-13C>T
NM_023110.3(FGFR1):c.746-14C>G rs1171714073
NM_023110.3(FGFR1):c.746-14C>T
NM_023110.3(FGFR1):c.746-5C>G rs1820095016
NM_023110.3(FGFR1):c.75G>C (p.Pro25=) rs17175757
NM_023110.3(FGFR1):c.789C>T (p.Ala263=) rs780944776
NM_023110.3(FGFR1):c.819G>C (p.Val273=) rs779056585
NM_023110.3(FGFR1):c.849G>A (p.Pro283=)
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) rs1370490922
NM_023110.3(FGFR1):c.870A>G (p.Leu290=) rs751538019
NM_023110.3(FGFR1):c.91+16G>C
NM_023110.3(FGFR1):c.91+19G>T
NM_023110.3(FGFR1):c.91+20C>T
NM_023110.3(FGFR1):c.92-13G>T
NM_023110.3(FGFR1):c.92-19G>C
NM_023110.3(FGFR1):c.92-6C>G
NM_023110.3(FGFR1):c.936+13C>T
NM_023110.3(FGFR1):c.936+7A>G
NM_023110.3(FGFR1):c.937-11G>T
NM_023110.3(FGFR1):c.937-17T>C
NM_023110.3(FGFR1):c.957C>G (p.Thr319=)
NM_023110.3(FGFR1):c.957C>T (p.Thr319=)
NM_025000.4(DCAF17):c.1047T>C (p.Pro349=)
NM_025000.4(DCAF17):c.106C>T (p.Leu36=) rs1693699845
NM_025000.4(DCAF17):c.1071T>C (p.His357=)
NM_025000.4(DCAF17):c.1091+17G>A
NM_025000.4(DCAF17):c.1091+19A>G
NM_025000.4(DCAF17):c.1092-10C>T
NM_025000.4(DCAF17):c.1092-8C>G
NM_025000.4(DCAF17):c.109C>A (p.Arg37=)
NM_025000.4(DCAF17):c.115C>T (p.Leu39=)
NM_025000.4(DCAF17):c.1182+13T>A
NM_025000.4(DCAF17):c.1182+13T>G
NM_025000.4(DCAF17):c.1182+18T>C
NM_025000.4(DCAF17):c.1182+7C>A
NM_025000.4(DCAF17):c.1182+7C>T
NM_025000.4(DCAF17):c.1183-13T>C
NM_025000.4(DCAF17):c.1183-4A>G
NM_025000.4(DCAF17):c.1183-4A>T
NM_025000.4(DCAF17):c.1183-7A>C
NM_025000.4(DCAF17):c.1183-7A>G
NM_025000.4(DCAF17):c.1183-9A>C
NM_025000.4(DCAF17):c.1183-9A>G
NM_025000.4(DCAF17):c.1200T>A (p.Thr400=)
NM_025000.4(DCAF17):c.1224A>T (p.Val408=) rs993840619
NM_025000.4(DCAF17):c.126+11G>A
NM_025000.4(DCAF17):c.126+11G>C
NM_025000.4(DCAF17):c.126+12C>G
NM_025000.4(DCAF17):c.126+15G>A
NM_025000.4(DCAF17):c.126+17C>T
NM_025000.4(DCAF17):c.126+18G>A
NM_025000.4(DCAF17):c.126+19_126+36dup
NM_025000.4(DCAF17):c.126+7G>C
NM_025000.4(DCAF17):c.1266+13C>T
NM_025000.4(DCAF17):c.1266+15A>G
NM_025000.4(DCAF17):c.1266+17A>G
NM_025000.4(DCAF17):c.1266+19A>G
NM_025000.4(DCAF17):c.1266+20T>A
NM_025000.4(DCAF17):c.1267-13A>G
NM_025000.4(DCAF17):c.1267-17A>G
NM_025000.4(DCAF17):c.1267-18TATC[2]
NM_025000.4(DCAF17):c.1267-9A>G
NM_025000.4(DCAF17):c.127-11A>G
NM_025000.4(DCAF17):c.127-15C>T
NM_025000.4(DCAF17):c.127-18A>G
NM_025000.4(DCAF17):c.1275A>G (p.Lys425=)
NM_025000.4(DCAF17):c.1278T>C (p.Ile426=)
NM_025000.4(DCAF17):c.1284C>T (p.Asp428=)
NM_025000.4(DCAF17):c.1350T>A (p.Ala450=)
NM_025000.4(DCAF17):c.135T>C (p.Thr45=)
NM_025000.4(DCAF17):c.1395C>T (p.Ser465=)
NM_025000.4(DCAF17):c.1401A>G (p.Pro467=)
NM_025000.4(DCAF17):c.1422+13C>T
NM_025000.4(DCAF17):c.1422+17G>A
NM_025000.4(DCAF17):c.1422+18G>A
NM_025000.4(DCAF17):c.1422+18G>T
NM_025000.4(DCAF17):c.1422+19A>G rs745818094
NM_025000.4(DCAF17):c.1422+19A>T
NM_025000.4(DCAF17):c.1422+8G>T
NM_025000.4(DCAF17):c.1423-14G>A
NM_025000.4(DCAF17):c.1423-4A>G
NM_025000.4(DCAF17):c.1423-7G>T
NM_025000.4(DCAF17):c.1425A>G (p.Thr475=)
NM_025000.4(DCAF17):c.1428T>C (p.Tyr476=)
NM_025000.4(DCAF17):c.1440C>G (p.Val480=) rs763716716
NM_025000.4(DCAF17):c.1458G>A (p.Leu486=)
NM_025000.4(DCAF17):c.1467C>T (p.His489=)
NM_025000.4(DCAF17):c.1473G>A (p.Glu491=) rs1325785761
NM_025000.4(DCAF17):c.1512G>A (p.Gln504=)
NM_025000.4(DCAF17):c.1527T>G (p.Thr509=)
NM_025000.4(DCAF17):c.1530G>C (p.Gly510=)
NM_025000.4(DCAF17):c.1557C>T (p.Ser519=)
NM_025000.4(DCAF17):c.1560T>C (p.Cys520=)
NM_025000.4(DCAF17):c.16A>C (p.Lys6Gln)
NM_025000.4(DCAF17):c.174T>C (p.Pro58=)
NM_025000.4(DCAF17):c.180C>G (p.Ala60=)
NM_025000.4(DCAF17):c.207C>T (p.Asp69=)
NM_025000.4(DCAF17):c.210T>C (p.Asn70=)
NM_025000.4(DCAF17):c.214C>A (p.Arg72=)
NM_025000.4(DCAF17):c.21C>G (p.Pro7=)
NM_025000.4(DCAF17):c.21C>T (p.Pro7=)
NM_025000.4(DCAF17):c.230+11A>G
NM_025000.4(DCAF17):c.230+13T>C
NM_025000.4(DCAF17):c.230+14del
NM_025000.4(DCAF17):c.230+17_230+18insT
NM_025000.4(DCAF17):c.230+18A>T
NM_025000.4(DCAF17):c.230+9_230+10del
NM_025000.4(DCAF17):c.231-4C>T
NM_025000.4(DCAF17):c.231-7T>C rs759690510
NM_025000.4(DCAF17):c.231-8T>A
NM_025000.4(DCAF17):c.240T>G (p.Ser80=)
NM_025000.4(DCAF17):c.249A>G (p.Arg83=)
NM_025000.4(DCAF17):c.258T>C (p.Tyr86=) rs754236793
NM_025000.4(DCAF17):c.261A>G (p.Glu87=)
NM_025000.4(DCAF17):c.276C>G (p.Ser92=)
NM_025000.4(DCAF17):c.27G>T (p.Val9=)
NM_025000.4(DCAF17):c.294G>A (p.Glu98=)
NM_025000.4(DCAF17):c.300T>A (p.Ala100=)
NM_025000.4(DCAF17):c.306A>G (p.Leu102=)
NM_025000.4(DCAF17):c.321+11T>C
NM_025000.4(DCAF17):c.321+12T>C
NM_025000.4(DCAF17):c.321+13T>A rs1390287931
NM_025000.4(DCAF17):c.321+15T>C
NM_025000.4(DCAF17):c.321+18A>T
NM_025000.4(DCAF17):c.321+20C>A
NM_025000.4(DCAF17):c.321+20C>T rs202131890
NM_025000.4(DCAF17):c.322-12T>C
NM_025000.4(DCAF17):c.322-14_322-11del rs753818890
NM_025000.4(DCAF17):c.322-15T>C
NM_025000.4(DCAF17):c.322-15_322-14insTT rs139655160
NM_025000.4(DCAF17):c.322-16C>T
NM_025000.4(DCAF17):c.322-17_322-16insG
NM_025000.4(DCAF17):c.322-18C>A
NM_025000.4(DCAF17):c.322-19T>C
NM_025000.4(DCAF17):c.322-19TC[2] rs771200708
NM_025000.4(DCAF17):c.322-7T>G rs2105750441
NM_025000.4(DCAF17):c.322-8T>G
NM_025000.4(DCAF17):c.330A>T (p.Ile110=)
NM_025000.4(DCAF17):c.363C>G (p.Leu121=)
NM_025000.4(DCAF17):c.378T>C (p.Ala126=)
NM_025000.4(DCAF17):c.384T>C (p.Asn128=)
NM_025000.4(DCAF17):c.411G>A (p.Thr137=)
NM_025000.4(DCAF17):c.423T>C (p.Leu141=) rs1574340240
NM_025000.4(DCAF17):c.435T>C (p.Tyr145=)
NM_025000.4(DCAF17):c.441A>G (p.Ala147=)
NM_025000.4(DCAF17):c.447T>C (p.Tyr149=)
NM_025000.4(DCAF17):c.458+19T>C
NM_025000.4(DCAF17):c.458+7A>G
NM_025000.4(DCAF17):c.458+8C>T
NM_025000.4(DCAF17):c.459-13A>G
NM_025000.4(DCAF17):c.45C>T (p.Arg15=)
NM_025000.4(DCAF17):c.483A>G (p.Gln161=)
NM_025000.4(DCAF17):c.48G>A (p.Arg16=)
NM_025000.4(DCAF17):c.495A>G (p.Ala165=) rs2105753390
NM_025000.4(DCAF17):c.504A>C (p.Ser168=)
NM_025000.4(DCAF17):c.504A>G (p.Ser168=)
NM_025000.4(DCAF17):c.507T>C (p.Ala169=)
NM_025000.4(DCAF17):c.51G>A (p.Ala17=)
NM_025000.4(DCAF17):c.51G>T (p.Ala17=)
NM_025000.4(DCAF17):c.531C>T (p.Ala177=)
NM_025000.4(DCAF17):c.537+20C>G
NM_025000.4(DCAF17):c.537+7A>G
NM_025000.4(DCAF17):c.537+8_537+21del rs747625728
NM_025000.4(DCAF17):c.538-16T>C
NM_025000.4(DCAF17):c.549A>G (p.Gln183=)
NM_025000.4(DCAF17):c.564G>A (p.Leu188=) rs762999248
NM_025000.4(DCAF17):c.573A>G (p.Ala191=)
NM_025000.4(DCAF17):c.576G>A (p.Val192=)
NM_025000.4(DCAF17):c.576G>C (p.Val192=)
NM_025000.4(DCAF17):c.57C>T (p.Gly19=)
NM_025000.4(DCAF17):c.588A>G (p.Leu196=)
NM_025000.4(DCAF17):c.588A>T (p.Leu196=)
NM_025000.4(DCAF17):c.591T>A (p.Pro197=)
NM_025000.4(DCAF17):c.597A>G (p.Ser199=)
NM_025000.4(DCAF17):c.600T>C (p.Leu200=)
NM_025000.4(DCAF17):c.60C>T (p.Cys20=)
NM_025000.4(DCAF17):c.627+10C>A
NM_025000.4(DCAF17):c.627+17T>C
NM_025000.4(DCAF17):c.627+8C>T rs2105761847
NM_025000.4(DCAF17):c.628-11C>A
NM_025000.4(DCAF17):c.628-20T>C
NM_025000.4(DCAF17):c.628-5G>A
NM_025000.4(DCAF17):c.628-6C>T
NM_025000.4(DCAF17):c.630T>C (p.Ile210=)
NM_025000.4(DCAF17):c.639C>T (p.Asn213=) rs755304811
NM_025000.4(DCAF17):c.654C>G (p.Thr218=)
NM_025000.4(DCAF17):c.69C>T (p.Arg23=)
NM_025000.4(DCAF17):c.702A>G (p.Arg234=)
NM_025000.4(DCAF17):c.705C>G (p.Leu235=)
NM_025000.4(DCAF17):c.723C>T (p.Ile241=)
NM_025000.4(DCAF17):c.732+11C>T
NM_025000.4(DCAF17):c.732+16A>G
NM_025000.4(DCAF17):c.732+18T>G
NM_025000.4(DCAF17):c.732+20G>A
NM_025000.4(DCAF17):c.732+9A>G
NM_025000.4(DCAF17):c.733-16T>C
NM_025000.4(DCAF17):c.733-20T>A
NM_025000.4(DCAF17):c.733-22TTTTG[2] rs775577850
NM_025000.4(DCAF17):c.744G>A (p.Gln248=)
NM_025000.4(DCAF17):c.759G>A (p.Gly253=)
NM_025000.4(DCAF17):c.759G>C (p.Gly253=)
NM_025000.4(DCAF17):c.786T>C (p.Thr262=)
NM_025000.4(DCAF17):c.78C>A (p.Gly26=)
NM_025000.4(DCAF17):c.810T>C (p.Phe270=)
NM_025000.4(DCAF17):c.81G>A (p.Val27=)
NM_025000.4(DCAF17):c.81G>C (p.Val27=)
NM_025000.4(DCAF17):c.838+11del
NM_025000.4(DCAF17):c.838+12C>G
NM_025000.4(DCAF17):c.838+14A>C
NM_025000.4(DCAF17):c.839-9T>C
NM_025000.4(DCAF17):c.861G>A (p.Glu287=)
NM_025000.4(DCAF17):c.864G>A (p.Val288=)
NM_025000.4(DCAF17):c.873G>A (p.Leu291=)
NM_025000.4(DCAF17):c.87G>A (p.Gln29=)
NM_025000.4(DCAF17):c.90G>A (p.Arg30=)
NM_025000.4(DCAF17):c.915C>T (p.Ile305=)
NM_025000.4(DCAF17):c.948T>C (p.Val316=)
NM_025000.4(DCAF17):c.948T>G (p.Val316=)
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr) rs748586810
NM_025000.4(DCAF17):c.966A>G (p.Leu322=)
NM_025000.4(DCAF17):c.97C>T (p.Leu33=)
NM_025000.4(DCAF17):c.981+15A>G
NM_025000.4(DCAF17):c.981+16G>A
NM_025000.4(DCAF17):c.981+16G>T
NM_025000.4(DCAF17):c.981+22_981+23del
NM_025000.4(DCAF17):c.982-18A>G
NM_025000.4(DCAF17):c.982-20A>T
NM_025000.4(DCAF17):c.9G>T (p.Pro3=)

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