ClinVar Miner

List of variants in gene MCPH1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 821
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_024596.5(MCPH1):c.2136+292G>A rs1550689 0.98688
NM_024596.5(MCPH1):c.233+128T>A rs2515417 0.97012
NM_024596.5(MCPH1):c.233+77C>G rs2442545 0.97009
NM_024596.5(MCPH1):c.233+73A>G rs2515415 0.97007
NM_024596.5(MCPH1):c.115-101G>T rs2440437 0.96959
NM_024596.5(MCPH1):c.1935+107C>T rs2515575 0.94160
NM_024596.5(MCPH1):c.513G>T (p.Arg171Ser) rs2442513 0.92258
NM_024596.5(MCPH1):c.234-141A>T rs2251956 0.72069
NM_024596.5(MCPH1):c.581-56A>G rs2053618 0.69853
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_024596.5(MCPH1):c.233+137del rs3214738 0.64286
NM_024596.5(MCPH1):c.115-130G>A rs2442546 0.64172
NM_024596.4(MCPH1):c.-59G>C rs2305023 0.63721
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) rs1057090 0.44044
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=) rs2912010 0.39666
NM_024596.5(MCPH1):c.2452+285G>A rs2011423 0.38601
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=) rs2912016 0.37333
NM_024596.5(MCPH1):c.2452+70G>T rs11137041 0.33699
NM_024596.5(MCPH1):c.23-107C>T rs1550698 0.33375
NM_024596.5(MCPH1):c.23-26G>A rs1550697 0.33312
NM_024596.5(MCPH1):c.*181C>G rs2433149 0.30338
NM_024596.5(MCPH1):c.2215-15C>G rs11137040 0.26204
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_024596.5(MCPH1):c.233+53T>G rs2305021 0.25908
NM_024596.5(MCPH1):c.2137-280C>T rs34744896 0.24345
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=) rs2584 0.24125
NM_024596.5(MCPH1):c.436+183C>T rs3816402 0.22312
NM_024596.5(MCPH1):c.2452+220A>G rs2515559 0.19985
NM_024596.5(MCPH1):c.2136+267T>G rs12677501 0.15367
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=) rs2920676 0.14726
NM_024596.5(MCPH1):c.1974-297C>G rs13282116 0.14671
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn) rs12674488 0.13225
NM_024596.5(MCPH1):c.1973+56T>C rs2277136 0.12539
NM_024596.5(MCPH1):c.114+66A>G rs1550696 0.11621
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile) rs2083914 0.10697
NM_024596.5(MCPH1):c.513= (p.Arg171=) rs2442513 0.07742
NM_024596.5(MCPH1):c.321+163A>G rs77310992 0.07234
NM_024596.5(MCPH1):c.436+326A>G rs77104350 0.07227
NM_024596.5(MCPH1):c.437-129G>A rs74448908 0.07186
NM_024596.5(MCPH1):c.863C>A (p.Pro288His) rs35590577 0.07163
NM_024596.5(MCPH1):c.1936-43T>G rs41311412 0.06799
NM_024596.5(MCPH1):c.580+277A>T rs567244080 0.05285
NM_024596.5(MCPH1):c.115-148T>C rs17076773 0.05121
NM_024596.5(MCPH1):c.1973+226G>C rs1550691 0.04972
NM_024596.5(MCPH1):c.2452+148C>G rs890223 0.04546
NM_024596.5(MCPH1):c.2215-249C>A rs71525742 0.04483
NM_024596.5(MCPH1):c.790A>G (p.Ile264Val) rs34121009 0.04213
NM_024596.5(MCPH1):c.2453-130G>A rs7005925 0.03077
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_024596.5(MCPH1):c.2400C>T (p.Tyr800=) rs7017210 0.02559
NM_024596.5(MCPH1):c.2136+298T>C rs7005212 0.02293
NM_024596.5(MCPH1):c.2452+3494A>G rs2448612 0.02224
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_024596.5(MCPH1):c.1973+301C>G rs73661774 0.01554
NM_024596.5(MCPH1):c.2452+97C>T rs115375310 0.01552
NM_024596.5(MCPH1):c.1936-42_1936-41insA rs111731804 0.01550
NM_024596.5(MCPH1):c.671-176T>G rs62496812 0.01548
NM_024596.5(MCPH1):c.115-56A>G rs76553875 0.01515
NM_024596.5(MCPH1):c.23-15A>G rs146351889 0.01440
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_024596.5(MCPH1):c.233+289A>T rs78101455 0.01147
NC_000008.11:g.6406587C>T rs190692683 0.01025
NM_024596.5(MCPH1):c.2453-14C>T rs17077744 0.00931
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_024596.5(MCPH1):c.114+187T>C rs114102079 0.00758
NM_024596.5(MCPH1):c.2453-13G>A rs111713406 0.00748
NM_024596.5(MCPH1):c.1974-130G>A rs115299416 0.00729
NM_024596.5(MCPH1):c.2136+74A>G rs79036233 0.00703
NM_024596.5(MCPH1):c.1936-87A>C rs2979667 0.00695
NM_024596.5(MCPH1):c.*199G>A rs17317651 0.00596
NM_024596.5(MCPH1):c.2452+313G>A rs143238857 0.00586
NM_024596.5(MCPH1):c.321+215C>G rs78909070 0.00500
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=) rs186547090 0.00403
NM_024596.5(MCPH1):c.1974-306C>T rs143254256 0.00391
NM_024596.5(MCPH1):c.2137-293A>G rs184911152 0.00363
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000 0.00334
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948 0.00328
NM_024596.5(MCPH1):c.1781C>T (p.Thr594Met) rs115033462 0.00319
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991 0.00302
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031 0.00217
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) rs61749465 0.00191
NM_024596.5(MCPH1):c.2466G>A (p.Gln822=) rs35614690 0.00169
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_024596.5(MCPH1):c.2250G>T (p.Pro750=) rs370202384 0.00146
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=) rs141218500 0.00134
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) rs142858644 0.00120
NM_024596.5(MCPH1):c.1951G>A (p.Val651Ile) rs138218829 0.00089
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr) rs75741316 0.00082
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val) rs202241113 0.00080
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=) rs377400638 0.00079
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys) rs201039834 0.00067
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_024596.5(MCPH1):c.1061T>C (p.Val354Ala) rs148526209 0.00054
NM_024596.5(MCPH1):c.928G>A (p.Val310Ile) rs199865930 0.00051
NM_024596.5(MCPH1):c.321+47C>T rs192919183 0.00049
NM_024596.5(MCPH1):c.436+46A>G rs200561926 0.00047
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_024596.5(MCPH1):c.1864G>T (p.Asp622Tyr) rs201318603 0.00041
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952 0.00037
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) rs146744659 0.00035
NM_024596.5(MCPH1):c.2013A>G (p.Lys671=) rs371498495 0.00034
NM_024596.5(MCPH1):c.115-14C>T rs200346652 0.00028
NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp) rs200820759 0.00027
NM_024596.5(MCPH1):c.489T>C (p.Thr163=) rs191104356 0.00026
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) rs556803400 0.00022
NM_024596.5(MCPH1):c.1759A>G (p.Ile587Val) rs372378731 0.00022
NM_024596.5(MCPH1):c.1226A>T (p.Glu409Val) rs200518541 0.00021
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) rs372450763 0.00021
NM_024596.5(MCPH1):c.1825+14C>G rs2583 0.00019
NM_024596.5(MCPH1):c.2295G>A (p.Ser765=) rs200401940 0.00019
NM_024596.5(MCPH1):c.867G>A (p.Gln289=) rs201231900 0.00019
NM_024596.5(MCPH1):c.775A>C (p.Lys259Gln) rs375695403 0.00018
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=) rs185736569 0.00017
NM_024596.5(MCPH1):c.1055C>T (p.Ser352Phe) rs532399692 0.00016
NM_024596.5(MCPH1):c.2499G>T (p.Leu833Phe) rs34009706 0.00016
NM_024596.5(MCPH1):c.2108G>A (p.Arg703His) rs370275760 0.00013
NM_024596.5(MCPH1):c.2272G>A (p.Asp758Asn) rs376082728 0.00013
NM_024596.5(MCPH1):c.1189G>A (p.Val397Met) rs539491399 0.00012
NM_024596.5(MCPH1):c.165C>A (p.Gly55=) rs772896845 0.00012
NM_024596.5(MCPH1):c.1202C>T (p.Ala401Val) rs377725772 0.00011
NM_024596.5(MCPH1):c.2353C>T (p.Arg785Trp) rs759811955 0.00011
NM_024596.5(MCPH1):c.2452+9C>A rs200446680 0.00011
NM_024596.5(MCPH1):c.1118G>C (p.Arg373Thr) rs373762532 0.00010
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn) rs201128010 0.00010
NM_024596.5(MCPH1):c.1459A>G (p.Thr487Ala) rs775878359 0.00010
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile) rs201405704 0.00010
NM_024596.5(MCPH1):c.1866C>T (p.Asp622=) rs754393094 0.00010
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=) rs186136373 0.00010
NM_024596.5(MCPH1):c.2335G>A (p.Val779Ile) rs751832733 0.00010
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514 0.00009
NM_024596.5(MCPH1):c.2077C>T (p.Arg693Cys) rs376996626 0.00009
NM_024596.5(MCPH1):c.869A>T (p.Lys290Ile) rs200814676 0.00009
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) rs369127299 0.00008
NM_024596.5(MCPH1):c.1903G>A (p.Glu635Lys) rs745847798 0.00007
NM_024596.5(MCPH1):c.1930A>G (p.Lys644Glu) rs201848494 0.00007
NM_024596.5(MCPH1):c.729A>T (p.Gly243=) rs370543894 0.00007
NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys) rs757646355 0.00006
NM_024596.5(MCPH1):c.1909T>C (p.Leu637=) rs200346036 0.00006
NM_024596.5(MCPH1):c.2404G>A (p.Gly802Arg) rs370842740 0.00006
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) rs201403389 0.00006
NM_024596.5(MCPH1):c.616A>G (p.Ser206Gly) rs200071210 0.00006
NM_024596.5(MCPH1):c.641T>G (p.Leu214Trp) rs763114241 0.00006
NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys) rs757012933 0.00006
NM_024596.5(MCPH1):c.671A>G (p.Asp224Gly) rs770989341 0.00006
NM_024596.5(MCPH1):c.804A>G (p.Val268=) rs759039958 0.00006
NM_024596.5(MCPH1):c.1052G>T (p.Ser351Ile) rs145820898 0.00005
NM_024596.5(MCPH1):c.1291C>T (p.Pro431Ser) rs376658910 0.00005
NM_024596.5(MCPH1):c.1502C>T (p.Ser501Phe) rs771862271 0.00005
NM_024596.5(MCPH1):c.1974-2A>G rs541042265 0.00005
NM_024596.5(MCPH1):c.2133T>C (p.Asp711=) rs375451164 0.00005
NM_024596.5(MCPH1):c.75A>G (p.Ser25=) rs760499374 0.00005
NM_024596.5(MCPH1):c.859A>C (p.Ser287Arg) rs149813931 0.00005
NM_024596.5(MCPH1):c.1113C>T (p.Cys371=) rs587783732 0.00004
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) rs201026769 0.00004
NM_024596.5(MCPH1):c.1408A>G (p.Thr470Ala) rs911978407 0.00004
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) rs748011724 0.00004
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) rs374596700 0.00004
NM_024596.5(MCPH1):c.2255G>A (p.Arg752His) rs536823455 0.00004
NM_024596.5(MCPH1):c.2355G>T (p.Arg785=) rs760206052 0.00004
NM_024596.5(MCPH1):c.322-1G>C rs201721894 0.00004
NM_024596.5(MCPH1):c.-10G>C rs773915060 0.00003
NM_024596.5(MCPH1):c.1005C>A (p.Thr335=) rs755771006 0.00003
NM_024596.5(MCPH1):c.115-6C>G rs368712550 0.00003
NM_024596.5(MCPH1):c.1298C>A (p.Ser433Tyr) rs757893077 0.00003
NM_024596.5(MCPH1):c.1329C>T (p.Ser443=) rs775492524 0.00003
NM_024596.5(MCPH1):c.1417A>C (p.Ile473Leu) rs1245850569 0.00003
NM_024596.5(MCPH1):c.1485T>C (p.Thr495=) rs565739739 0.00003
NM_024596.5(MCPH1):c.1522A>G (p.Arg508Gly) rs776261508 0.00003
NM_024596.5(MCPH1):c.15C>T (p.Ile5=) rs757247746 0.00003
NM_024596.5(MCPH1):c.1661A>T (p.Glu554Val) rs779570029 0.00003
NM_024596.5(MCPH1):c.1681del (p.Thr561fs) rs773342658 0.00003
NM_024596.5(MCPH1):c.1712C>G (p.Ser571Ter) rs371010315 0.00003
NM_024596.5(MCPH1):c.1779G>C (p.Glu593Asp) rs750376557 0.00003
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser) rs189380942 0.00003
NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val) rs751512309 0.00003
NM_024596.5(MCPH1):c.2118G>A (p.Trp706Ter) rs1427099165 0.00003
NM_024596.5(MCPH1):c.23-12T>C rs578064307 0.00003
NM_024596.5(MCPH1):c.2309C>T (p.Pro770Leu) rs1085307735 0.00003
NM_024596.5(MCPH1):c.297C>T (p.His99=) rs727504012 0.00003
NM_024596.5(MCPH1):c.561G>T (p.Arg187Ser) rs776125109 0.00003
NM_024596.5(MCPH1):c.61A>G (p.Thr21Ala) rs537115782 0.00003
NM_024596.5(MCPH1):c.1285C>T (p.Leu429Phe) rs199553451 0.00002
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) rs587783733 0.00002
NM_024596.5(MCPH1):c.1389C>T (p.Cys463=) rs371566184 0.00002
NM_024596.5(MCPH1):c.1809C>T (p.Pro603=) rs757697166 0.00002
NM_024596.5(MCPH1):c.1936-6C>A rs779947393 0.00002
NM_024596.5(MCPH1):c.2136G>T (p.Trp712Cys) rs778229284 0.00002
NM_024596.5(MCPH1):c.217G>C (p.Val73Leu) rs376364603 0.00002
NM_024596.5(MCPH1):c.22+12C>T rs779918939 0.00002
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter) rs753535530 0.00002
NM_024596.5(MCPH1):c.530A>C (p.Glu177Ala) rs181765480 0.00002
NM_024596.5(MCPH1):c.671-3C>T rs374793979 0.00002
NM_024596.5(MCPH1):c.932T>G (p.Val311Gly) rs779253079 0.00002
NM_024596.5(MCPH1):c.974C>T (p.Thr325Met) rs745348836 0.00002
NM_024596.5(MCPH1):c.1101G>A (p.Pro367=) rs201084851 0.00001
NM_024596.5(MCPH1):c.1104G>A (p.Lys368=) rs548110255 0.00001
NM_024596.5(MCPH1):c.1144A>T (p.Met382Leu) rs1449134332 0.00001
NM_024596.5(MCPH1):c.1169C>T (p.Ser390Leu) rs534041070 0.00001
NM_024596.5(MCPH1):c.1263T>A (p.Leu421=) rs754252510 0.00001
NM_024596.5(MCPH1):c.1336A>C (p.Ser446Arg) rs374630259 0.00001
NM_024596.5(MCPH1):c.1358C>T (p.Thr453Ile) rs543390693 0.00001
NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn) rs374363568 0.00001
NM_024596.5(MCPH1):c.1370A>G (p.Glu457Gly) rs1438992000 0.00001
NM_024596.5(MCPH1):c.1390G>A (p.Val464Ile) rs531526435 0.00001
NM_024596.5(MCPH1):c.1402A>T (p.Thr468Ser) rs1472912410 0.00001
NM_024596.5(MCPH1):c.1494C>T (p.Cys498=) rs199951156 0.00001
NM_024596.5(MCPH1):c.1538C>G (p.Ala513Gly) rs774647639 0.00001
NM_024596.5(MCPH1):c.1563G>C (p.Glu521Asp) rs535274041 0.00001
NM_024596.5(MCPH1):c.1810G>A (p.Gly604Arg) rs369120387 0.00001
NM_024596.5(MCPH1):c.1825+6T>G rs1457415233 0.00001
NM_024596.5(MCPH1):c.1850A>G (p.His617Arg) rs201041518 0.00001
NM_024596.5(MCPH1):c.192G>A (p.Gln64=) rs767548647 0.00001
NM_024596.5(MCPH1):c.1936-10A>G rs587783736 0.00001
NM_024596.5(MCPH1):c.1978C>G (p.Gln660Glu) rs369240170 0.00001
NM_024596.5(MCPH1):c.2000T>C (p.Val667Ala) rs564538112 0.00001
NM_024596.5(MCPH1):c.2023A>G (p.Ile675Val) rs1289809517 0.00001
NM_024596.5(MCPH1):c.2064C>T (p.Ser688=) rs368480838 0.00001
NM_024596.5(MCPH1):c.2215-12T>G rs780921843 0.00001
NM_024596.5(MCPH1):c.2346C>T (p.Cys782=) rs372319072 0.00001
NM_024596.5(MCPH1):c.2367C>T (p.Val789=) rs764585700 0.00001
NM_024596.5(MCPH1):c.26dup (p.Val10fs) rs778135376 0.00001
NM_024596.5(MCPH1):c.285T>C (p.Asn95=) rs187466318 0.00001
NM_024596.5(MCPH1):c.302C>G (p.Ser101Ter) rs755862917 0.00001
NM_024596.5(MCPH1):c.444T>G (p.Asp148Glu) rs200828507 0.00001
NM_024596.5(MCPH1):c.523G>A (p.Ala175Thr) rs370831760 0.00001
NM_024596.5(MCPH1):c.576C>T (p.Pro192=) rs1803099137 0.00001
NM_024596.5(MCPH1):c.585C>A (p.Ser195=) rs1338908640 0.00001
NM_024596.5(MCPH1):c.646A>G (p.Ile216Val) rs983967995 0.00001
NM_024596.5(MCPH1):c.670+12A>T rs540930467 0.00001
NM_024596.5(MCPH1):c.701C>G (p.Ser234Cys) rs774430232 0.00001
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) rs121434305 0.00001
NM_024596.5(MCPH1):c.833C>T (p.Pro278Leu) rs750528950 0.00001
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val) rs587783743 0.00001
NM_024596.5(MCPH1):c.954T>C (p.Ala318=) rs770723949 0.00001
NM_024596.5(MCPH1):c.975G>A (p.Thr325=) rs556632758 0.00001
NM_024596.5(MCPH1):c.991C>T (p.Arg331Cys) rs143393335 0.00001
GRCh37/hg19 8p23.1(chr8:6223920-6284215)x1
GRCh37/hg19 8p23.1(chr8:6431852-6498404)x1
GRCh37/hg19 8p23.1(chr8:6454559-6488921)x1
GRCh37/hg19 8p23.2-23.1(chr8:6127398-6303901)x3
GRCh37/hg19 8p23.2-23.1(chr8:6131268-6289937)x1
GRCh37/hg19 8p23.2-23.1(chr8:6136512-6266774)x1
GRCh37/hg19 8p23.2-23.1(chr8:6172625-6335548)x1
GRCh37/hg19 8p23.2-23.1(chr8:6180484-6318347)x1
GRCh37/hg19 8p23.2-23.1(chr8:6188594-6291181)x1
NC_000008.10:g.(?_6264189)_(6266911_?)del
NC_000008.10:g.(?_6264189)_(6303088_?)dup
NC_000008.10:g.(?_6264189)_(6312793_?)del
NC_000008.10:g.(?_6266780)_(6266911_?)del
NC_000008.10:g.(?_6500495)_(6500570_?)del
NC_000008.10:g.(?_6500495)_(6500570_?)dup
NC_000008.11:g.6406552G>T rs2916655
NM_024596.5(MCPH1):c.1005C>G (p.Thr335=)
NM_024596.5(MCPH1):c.1005C>T (p.Thr335=)
NM_024596.5(MCPH1):c.1014A>C (p.Ser338=)
NM_024596.5(MCPH1):c.1017A>G (p.Thr339=)
NM_024596.5(MCPH1):c.1025A>G (p.His342Arg)
NM_024596.5(MCPH1):c.1026C>T (p.His342=) rs200289785
NM_024596.5(MCPH1):c.1032G>A (p.Leu344=)
NM_024596.5(MCPH1):c.1038T>C (p.His346=)
NM_024596.5(MCPH1):c.1040C>A (p.Ser347Ter) rs1804028189
NM_024596.5(MCPH1):c.1042A>C (p.Arg348=)
NM_024596.5(MCPH1):c.1050G>A (p.Arg350=)
NM_024596.5(MCPH1):c.1059A>G (p.Ser353=)
NM_024596.5(MCPH1):c.1065G>A (p.Lys355=)
NM_024596.5(MCPH1):c.1065G>T (p.Lys355Asn)
NM_024596.5(MCPH1):c.1092T>G (p.His364Gln)
NM_024596.5(MCPH1):c.1095A>C (p.Ser365=)
NM_024596.5(MCPH1):c.1101G>C (p.Pro367=)
NM_024596.5(MCPH1):c.111A>C (p.Ala37=)
NM_024596.5(MCPH1):c.1125G>A (p.Arg375=)
NM_024596.5(MCPH1):c.1134G>A (p.Arg378=)
NM_024596.5(MCPH1):c.1136G>T (p.Arg379Ile)
NM_024596.5(MCPH1):c.114+10T>C
NM_024596.5(MCPH1):c.114+12A>G
NM_024596.5(MCPH1):c.114+13T>C
NM_024596.5(MCPH1):c.114+13T>G
NM_024596.5(MCPH1):c.114+18C>A
NM_024596.5(MCPH1):c.114+20G>T
NM_024596.5(MCPH1):c.114+5G>A
NM_024596.5(MCPH1):c.114+7C>T
NM_024596.5(MCPH1):c.114+8A>G
NM_024596.5(MCPH1):c.114+8_114+9del
NM_024596.5(MCPH1):c.114+9C>G
NM_024596.5(MCPH1):c.1141A>G (p.Ile381Val)
NM_024596.5(MCPH1):c.1149G>A (p.Pro383=)
NM_024596.5(MCPH1):c.115-13A>G
NM_024596.5(MCPH1):c.115-15G>A
NM_024596.5(MCPH1):c.115-2A>G
NM_024596.5(MCPH1):c.115-4A>G
NM_024596.5(MCPH1):c.115-5T>C
NM_024596.5(MCPH1):c.115-6C>T
NM_024596.5(MCPH1):c.1152G>A (p.Arg384=)
NM_024596.5(MCPH1):c.1155G>A (p.Leu385=)
NM_024596.5(MCPH1):c.1156C>T (p.Gln386Ter)
NM_024596.5(MCPH1):c.1159C>T (p.Leu387=)
NM_024596.5(MCPH1):c.1164C>T (p.Cys388=)
NM_024596.5(MCPH1):c.1167G>A (p.Arg389=)
NM_024596.5(MCPH1):c.1170G>A (p.Ser390=)
NM_024596.5(MCPH1):c.1175_1176delinsGG (p.Asp392Gly)
NM_024596.5(MCPH1):c.1188C>A (p.His396Gln) rs570511077
NM_024596.5(MCPH1):c.1188C>G (p.His396Gln) rs570511077
NM_024596.5(MCPH1):c.1188C>T (p.His396=)
NM_024596.5(MCPH1):c.1190T>A (p.Val397Glu)
NM_024596.5(MCPH1):c.1191G>T (p.Val397=)
NM_024596.5(MCPH1):c.1194G>A (p.Ala398=)
NM_024596.5(MCPH1):c.1194G>C (p.Ala398=)
NM_024596.5(MCPH1):c.1194G>T (p.Ala398=)
NM_024596.5(MCPH1):c.1197A>C (p.Gly399=)
NM_024596.5(MCPH1):c.1197A>G (p.Gly399=)
NM_024596.5(MCPH1):c.119C>G (p.Ser40Ter)
NM_024596.5(MCPH1):c.120A>G (p.Ser40=)
NM_024596.5(MCPH1):c.1211C>T (p.Ala404Val)
NM_024596.5(MCPH1):c.1213C>T (p.Leu405Phe)
NM_024596.5(MCPH1):c.1233A>C (p.Ser411=)
NM_024596.5(MCPH1):c.1239T>C (p.Asp413=)
NM_024596.5(MCPH1):c.1243T>G (p.Tyr415Asp)
NM_024596.5(MCPH1):c.1244A>C (p.Tyr415Ser) rs199724219
NM_024596.5(MCPH1):c.1256A>C (p.Asp419Ala)
NM_024596.5(MCPH1):c.1270A>C (p.Arg424=)
NM_024596.5(MCPH1):c.1275T>C (p.Tyr425=)
NM_024596.5(MCPH1):c.128_129del (p.Thr42_Phe43insTer)
NM_024596.5(MCPH1):c.1296A>G (p.Glu432=)
NM_024596.5(MCPH1):c.1306C>T (p.Pro436Ser)
NM_024596.5(MCPH1):c.1311A>C (p.Ser437=)
NM_024596.5(MCPH1):c.1314C>T (p.Ser438=)
NM_024596.5(MCPH1):c.1324T>C (p.Leu442=)
NM_024596.5(MCPH1):c.1326G>A (p.Leu442=)
NM_024596.5(MCPH1):c.1332C>T (p.Cys444=)
NM_024596.5(MCPH1):c.1341T>C (p.Leu447=)
NM_024596.5(MCPH1):c.1344T>A (p.Ser448=) rs201825242
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426
NM_024596.5(MCPH1):c.1354A>C (p.Arg452=)
NM_024596.5(MCPH1):c.1359A>G (p.Thr453=)
NM_024596.5(MCPH1):c.135A>G (p.Lys45=)
NM_024596.5(MCPH1):c.1386C>G (p.Ser462=)
NM_024596.5(MCPH1):c.1386C>T (p.Ser462=)
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1416C>T (p.Asp472=)
NM_024596.5(MCPH1):c.141A>T (p.Val47=)
NM_024596.5(MCPH1):c.1422C>G (p.Thr474=)
NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile) rs926140350
NM_024596.5(MCPH1):c.1434A>C (p.Ala478=)
NM_024596.5(MCPH1):c.1441A>T (p.Ile481Phe) rs768776312
NM_024596.5(MCPH1):c.1442T>C (p.Ile481Thr)
NM_024596.5(MCPH1):c.1453C>A (p.Arg485=)
NM_024596.5(MCPH1):c.1467T>C (p.Asn489=)
NM_024596.5(MCPH1):c.146A>G (p.His49Arg) rs1799025968
NM_024596.5(MCPH1):c.146dup (p.His49fs)
NM_024596.5(MCPH1):c.1476C>T (p.Gly492=)
NM_024596.5(MCPH1):c.147C>T (p.His49=)
NM_024596.5(MCPH1):c.1486del (p.Ser496fs)
NM_024596.5(MCPH1):c.1488G>A (p.Ser496=)
NM_024596.5(MCPH1):c.1488G>C (p.Ser496=)
NM_024596.5(MCPH1):c.149_151delinsGTG (p.Val50_Ile51delinsGlyVal) rs1554476471
NM_024596.5(MCPH1):c.1500T>A (p.Thr500=)
NM_024596.5(MCPH1):c.1500T>G (p.Thr500=)
NM_024596.5(MCPH1):c.1506C>G (p.Ala502=)
NM_024596.5(MCPH1):c.1509T>G (p.Pro503=)
NM_024596.5(MCPH1):c.1512A>G (p.Glu504=)
NM_024596.5(MCPH1):c.1519C>T (p.Leu507=)
NM_024596.5(MCPH1):c.1524G>A (p.Arg508=)
NM_024596.5(MCPH1):c.1527T>C (p.Cys509=)
NM_024596.5(MCPH1):c.153C>T (p.Ile51=)
NM_024596.5(MCPH1):c.1551C>T (p.Asp517=)
NM_024596.5(MCPH1):c.1552G>T (p.Ala518Ser)
NM_024596.5(MCPH1):c.1553C>T (p.Ala518Val) rs1466023730
NM_024596.5(MCPH1):c.1554A>G (p.Ala518=)
NM_024596.5(MCPH1):c.1557C>T (p.Cys519=)
NM_024596.5(MCPH1):c.1558C>G (p.Pro520Ala)
NM_024596.5(MCPH1):c.1560A>T (p.Pro520=)
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.156C>T (p.Phe52=)
NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val) rs200823026
NM_024596.5(MCPH1):c.1594C>A (p.Pro532Thr)
NM_024596.5(MCPH1):c.1600C>G (p.Leu534Val)
NM_024596.5(MCPH1):c.1611A>G (p.Gly537=)
NM_024596.5(MCPH1):c.1614T>C (p.His538=)
NM_024596.5(MCPH1):c.1615GAT[2] (p.Asp541del) rs1275821995
NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly) rs587783734
NM_024596.5(MCPH1):c.1629T>A (p.Thr543=)
NM_024596.5(MCPH1):c.162T>C (p.Asp54=)
NM_024596.5(MCPH1):c.1631C>T (p.Pro544Leu)
NM_024596.5(MCPH1):c.1644C>T (p.Ser548=)
NM_024596.5(MCPH1):c.1647T>G (p.Leu549=)
NM_024596.5(MCPH1):c.1653A>G (p.Glu551=)
NM_024596.5(MCPH1):c.165C>G (p.Gly55=)
NM_024596.5(MCPH1):c.1662A>G (p.Glu554=)
NM_024596.5(MCPH1):c.1665G>A (p.Ala555=) rs772338945
NM_024596.5(MCPH1):c.1672C>T (p.Leu558=)
NM_024596.5(MCPH1):c.1677A>G (p.Lys559=) rs886063058
NM_024596.5(MCPH1):c.1704C>A (p.Ser568=)
NM_024596.5(MCPH1):c.1707A>G (p.Lys569=)
NM_024596.5(MCPH1):c.1728C>G (p.Gly576=)
NM_024596.5(MCPH1):c.173G>A (p.Ser58Asn)
NM_024596.5(MCPH1):c.1749G>A (p.Glu583=)
NM_024596.5(MCPH1):c.174C>T (p.Ser58=)
NM_024596.5(MCPH1):c.1764T>C (p.Val588=)
NM_024596.5(MCPH1):c.1770T>C (p.Cys590=)
NM_024596.5(MCPH1):c.177T>C (p.Thr59=)
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg) rs115033462
NM_024596.5(MCPH1):c.1791A>G (p.Glu597=)
NM_024596.5(MCPH1):c.1800A>G (p.Glu600=)
NM_024596.5(MCPH1):c.1809C>G (p.Pro603=)
NM_024596.5(MCPH1):c.1825+11C>T
NM_024596.5(MCPH1):c.1825+15T>C
NM_024596.5(MCPH1):c.1825+16T>C
NM_024596.5(MCPH1):c.1825+19C>G
NM_024596.5(MCPH1):c.1826-12C>G
NM_024596.5(MCPH1):c.1826-15C>A
NM_024596.5(MCPH1):c.1826-17A>G
NM_024596.5(MCPH1):c.1830T>C (p.Val610=)
NM_024596.5(MCPH1):c.1836T>C (p.Asn612=)
NM_024596.5(MCPH1):c.183C>T (p.Asp61=)
NM_024596.5(MCPH1):c.1867T>C (p.Ser623Pro) rs2129556799
NM_024596.5(MCPH1):c.1871G>A (p.Cys624Tyr) rs1290757964
NM_024596.5(MCPH1):c.1875C>T (p.Asp625=)
NM_024596.5(MCPH1):c.1878C>G (p.Gly626=)
NM_024596.5(MCPH1):c.1893C>A (p.Ile631=)
NM_024596.5(MCPH1):c.1898C>T (p.Pro633Leu)
NM_024596.5(MCPH1):c.189T>A (p.Ala63=)
NM_024596.5(MCPH1):c.18G>A (p.Leu6=)
NM_024596.5(MCPH1):c.18G>C (p.Leu6=)
NM_024596.5(MCPH1):c.1920T>C (p.Ser640=)
NM_024596.5(MCPH1):c.1921G>A (p.Gly641Arg)
NM_024596.5(MCPH1):c.1927G>C (p.Gly643Arg)
NM_024596.5(MCPH1):c.1929C>T (p.Gly643=) rs2129556811
NM_024596.5(MCPH1):c.1935+7G>A
NM_024596.5(MCPH1):c.1935+8T>G
NM_024596.5(MCPH1):c.1936-12del
NM_024596.5(MCPH1):c.1936-15G>A
NM_024596.5(MCPH1):c.1936-15G>C
NM_024596.5(MCPH1):c.1936-16T>G
NM_024596.5(MCPH1):c.1936-4C>G
NM_024596.5(MCPH1):c.1936-4C>T
NM_024596.5(MCPH1):c.1937C>G (p.Pro646Arg) rs1403723725
NM_024596.5(MCPH1):c.1938A>T (p.Pro646=)
NM_024596.5(MCPH1):c.193A>G (p.Lys65Glu)
NM_024596.5(MCPH1):c.1944A>G (p.Arg648=)
NM_024596.5(MCPH1):c.1947A>G (p.Thr649=)
NM_024596.5(MCPH1):c.1950A>G (p.Leu650=)
NM_024596.5(MCPH1):c.1953C>G (p.Val651=)
NM_024596.5(MCPH1):c.1953C>T (p.Val651=)
NM_024596.5(MCPH1):c.1968A>G (p.Pro656=)
NM_024596.5(MCPH1):c.1973+16G>C
NM_024596.5(MCPH1):c.1973+17A>G
NM_024596.5(MCPH1):c.1973+19T>C
NM_024596.5(MCPH1):c.1974-10G>A rs762333683
NM_024596.5(MCPH1):c.1974-10G>C
NM_024596.5(MCPH1):c.1974-10G>T
NM_024596.5(MCPH1):c.1974-11C>G
NM_024596.5(MCPH1):c.1974-11C>T
NM_024596.5(MCPH1):c.1974-11del
NM_024596.5(MCPH1):c.1974-13C>G
NM_024596.5(MCPH1):c.1974-15C>T
NM_024596.5(MCPH1):c.1974-19T>A
NM_024596.5(MCPH1):c.1974-236A>G rs13248420
NM_024596.5(MCPH1):c.1974-4A>G
NM_024596.5(MCPH1):c.1974-7T>A
NM_024596.5(MCPH1):c.1986C>G (p.Val662=) rs754730567
NM_024596.5(MCPH1):c.1986C>T (p.Val662=)
NM_024596.5(MCPH1):c.1992C>A (p.Ile664=)
NM_024596.5(MCPH1):c.1998T>C (p.Val666=)
NM_024596.5(MCPH1):c.199G>C (p.Gly67Arg)
NM_024596.5(MCPH1):c.2016C>G (p.Gly672=)
NM_024596.5(MCPH1):c.201C>T (p.Gly67=)
NM_024596.5(MCPH1):c.2031A>G (p.Pro677=)
NM_024596.5(MCPH1):c.2034C>T (p.Asp678=)
NM_024596.5(MCPH1):c.2037C>G (p.Val679=)
NM_024596.5(MCPH1):c.2046C>T (p.Thr682=)
NM_024596.5(MCPH1):c.2049G>A (p.Thr683=)
NM_024596.5(MCPH1):c.204A>G (p.Val68=)
NM_024596.5(MCPH1):c.2055C>T (p.His685=)
NM_024596.5(MCPH1):c.2058G>A (p.Val686=)
NM_024596.5(MCPH1):c.2064C>G (p.Ser688=)
NM_024596.5(MCPH1):c.2067G>A (p.Gly689=)
NM_024596.5(MCPH1):c.2073A>G (p.Pro691=)
NM_024596.5(MCPH1):c.2076T>G (p.Leu692=)
NM_024596.5(MCPH1):c.2078G>T (p.Arg693Leu) rs370011131
NM_024596.5(MCPH1):c.2082C>G (p.Thr694=)
NM_024596.5(MCPH1):c.2085G>C (p.Leu695=) rs771162185
NM_024596.5(MCPH1):c.2091G>A (p.Val697=)
NM_024596.5(MCPH1):c.2092C>T (p.Leu698=)
NM_024596.5(MCPH1):c.2094G>A (p.Leu698=)
NM_024596.5(MCPH1):c.2095C>T (p.Leu699=)
NM_024596.5(MCPH1):c.2112C>A (p.Gly704=)
NM_024596.5(MCPH1):c.2112C>G (p.Gly704=)
NM_024596.5(MCPH1):c.2112C>T (p.Gly704=)
NM_024596.5(MCPH1):c.2124C>G (p.Leu708=)
NM_024596.5(MCPH1):c.2126C>T (p.Ser709Phe)
NM_024596.5(MCPH1):c.2130T>C (p.Tyr710=)
NM_024596.5(MCPH1):c.2136+10G>A
NM_024596.5(MCPH1):c.2136+15T>C
NM_024596.5(MCPH1):c.2136+16G>T rs1437857424
NM_024596.5(MCPH1):c.2136+18A>G
NM_024596.5(MCPH1):c.2136+19C>T
NM_024596.5(MCPH1):c.2136+20T>A
NM_024596.5(MCPH1):c.2136+20T>G
NM_024596.5(MCPH1):c.2136+228A>G rs140616360
NM_024596.5(MCPH1):c.2136+8C>A
NM_024596.5(MCPH1):c.216G>A (p.Ser72=) rs775942126
NM_024596.5(MCPH1):c.216G>C (p.Ser72=) rs775942126
NM_024596.5(MCPH1):c.219G>T (p.Val73=)
NM_024596.5(MCPH1):c.22+10T>C
NM_024596.5(MCPH1):c.22+13C>T
NM_024596.5(MCPH1):c.22+18G>A
NM_024596.5(MCPH1):c.22+19C>T
NM_024596.5(MCPH1):c.22+2T>C
NM_024596.5(MCPH1):c.22+8A>G
NM_024596.5(MCPH1):c.2215-12_2215-9del
NM_024596.5(MCPH1):c.2215-13G>A
NM_024596.5(MCPH1):c.2215-14T>C
NM_024596.5(MCPH1):c.2215-15C>T
NM_024596.5(MCPH1):c.2215-15_2215-14del
NM_024596.5(MCPH1):c.2215-17C>G
NM_024596.5(MCPH1):c.2215-19A>C
NM_024596.5(MCPH1):c.2215-19_2215-16del
NM_024596.5(MCPH1):c.2215-19_2215-18del
NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC rs2129580718
NM_024596.5(MCPH1):c.2215-1_2215delinsTT
NM_024596.5(MCPH1):c.2215-20T>C
NM_024596.5(MCPH1):c.2215-20_2215-19delinsCG rs2129580717
NM_024596.5(MCPH1):c.2215-2_2253dup
NM_024596.5(MCPH1):c.2223A>G (p.Arg741=)
NM_024596.5(MCPH1):c.222C>G (p.Leu74=)
NM_024596.5(MCPH1):c.2244A>C (p.Ala748=)
NM_024596.5(MCPH1):c.2247G>A (p.Gly749=)
NM_024596.5(MCPH1):c.2250G>A (p.Pro750=)
NM_024596.5(MCPH1):c.2254C>G (p.Arg752Gly) rs373658774
NM_024596.5(MCPH1):c.2256C>G (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.2256_2257delinsGC (p.Gly753Arg) rs2129580734
NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg) rs587783737
NM_024596.5(MCPH1):c.2265C>G (p.Leu755=)
NM_024596.5(MCPH1):c.2268T>C (p.Phe756=)
NM_024596.5(MCPH1):c.2271C>T (p.Ala757=)
NM_024596.5(MCPH1):c.2282_2283delinsTA (p.Ala761Val)
NM_024596.5(MCPH1):c.2283G>A (p.Ala761=)
NM_024596.5(MCPH1):c.2292C>T (p.Val764=)
NM_024596.5(MCPH1):c.2294C>T (p.Ser765Leu)
NM_024596.5(MCPH1):c.22G>A (p.Asp8Asn)
NM_024596.5(MCPH1):c.23-10_23-9del
NM_024596.5(MCPH1):c.23-11C>G
NM_024596.5(MCPH1):c.23-159C>G rs112503494
NM_024596.5(MCPH1):c.23-1G>A
NM_024596.5(MCPH1):c.23-20T>C
NM_024596.5(MCPH1):c.23-233G>C rs148784485
NM_024596.5(MCPH1):c.23-4T>C
NM_024596.5(MCPH1):c.23-829_28del
NM_024596.5(MCPH1):c.23-8G>C
NM_024596.5(MCPH1):c.23-8_23-5dup
NM_024596.5(MCPH1):c.23-9T>G rs1554473238
NM_024596.5(MCPH1):c.2307C>T (p.Ser769=)
NM_024596.5(MCPH1):c.2310C>T (p.Pro770=)
NM_024596.5(MCPH1):c.2312C>T (p.Pro771Leu) rs1039322742
NM_024596.5(MCPH1):c.2322G>A (p.Lys774=)
NM_024596.5(MCPH1):c.2325C>G (p.Leu775=)
NM_024596.5(MCPH1):c.233+11TC[2]
NM_024596.5(MCPH1):c.233+12C>G
NM_024596.5(MCPH1):c.233+139A>C rs55687318
NM_024596.5(MCPH1):c.233+14C>G
NM_024596.5(MCPH1):c.233+14_233+17del
NM_024596.5(MCPH1):c.233+16C>G
NM_024596.5(MCPH1):c.233+16C>T
NM_024596.5(MCPH1):c.233+19A>C
NM_024596.5(MCPH1):c.233+20C>G
NM_024596.5(MCPH1):c.233+2T>C
NM_024596.5(MCPH1):c.233+6C>T
NM_024596.5(MCPH1):c.233+8G>C
NM_024596.5(MCPH1):c.233+8G>T
NM_024596.5(MCPH1):c.233+9T>G
NM_024596.5(MCPH1):c.2332C>T (p.Leu778=)
NM_024596.5(MCPH1):c.2337C>T (p.Val779=)
NM_024596.5(MCPH1):c.234-10A>C
NM_024596.5(MCPH1):c.234-19C>T
NM_024596.5(MCPH1):c.234-4A>G
NM_024596.5(MCPH1):c.234-6A>G
NM_024596.5(MCPH1):c.234-6A>T
NM_024596.5(MCPH1):c.2341C>T (p.Leu781=) rs577592270
NM_024596.5(MCPH1):c.2343G>A (p.Leu781=)
NM_024596.5(MCPH1):c.2353C>A (p.Arg785=)
NM_024596.5(MCPH1):c.2354G>A (p.Arg785Gln)
NM_024596.5(MCPH1):c.2358C>A (p.Val786=) rs2129580759
NM_024596.5(MCPH1):c.2358C>T (p.Val786=)
NM_024596.5(MCPH1):c.2361C>T (p.Ser787=)
NM_024596.5(MCPH1):c.2367C>A (p.Val789=)
NM_024596.5(MCPH1):c.2367C>G (p.Val789=)
NM_024596.5(MCPH1):c.2368C>T (p.Pro790Ser) rs1586835974
NM_024596.5(MCPH1):c.2370C>T (p.Pro790=) rs1586835998
NM_024596.5(MCPH1):c.2378C>G (p.Ala793Gly) rs781673106
NM_024596.5(MCPH1):c.2379C>T (p.Ala793=)
NM_024596.5(MCPH1):c.2385C>T (p.Ile795=)
NM_024596.5(MCPH1):c.2386G>A (p.Val796Ile)
NM_024596.5(MCPH1):c.2388C>T (p.Val796=)
NM_024596.5(MCPH1):c.2391C>T (p.Ile797=)
NM_024596.5(MCPH1):c.2397C>A (p.Pro799=)
NM_024596.5(MCPH1):c.2397C>G (p.Pro799=)
NM_024596.5(MCPH1):c.2399A>T (p.Tyr800Phe) rs117059261
NM_024596.5(MCPH1):c.2403C>T (p.Ser801=)
NM_024596.5(MCPH1):c.2409G>A (p.Lys803=)
NM_024596.5(MCPH1):c.240G>A (p.Arg80=)
NM_024596.5(MCPH1):c.2417_2418delinsTA (p.Ala806Val) rs2129580771
NM_024596.5(MCPH1):c.2418C>G (p.Ala806=)
NM_024596.5(MCPH1):c.2421A>G (p.Thr807=)
NM_024596.5(MCPH1):c.2426A>C (p.Lys809Thr)
NM_024596.5(MCPH1):c.2427G>A (p.Lys809=)
NM_024596.5(MCPH1):c.2427G>T (p.Lys809Asn) rs756558938
NM_024596.5(MCPH1):c.2430T>C (p.Tyr810=)
NM_024596.5(MCPH1):c.2434T>C (p.Ser812Pro) rs794727105
NM_024596.5(MCPH1):c.2436T>C (p.Ser812=)
NM_024596.5(MCPH1):c.2436T>G (p.Ser812=)
NM_024596.5(MCPH1):c.2452+10C>T
NM_024596.5(MCPH1):c.2452+11A>C
NM_024596.5(MCPH1):c.2452+14C>A
NM_024596.5(MCPH1):c.2452+14CA[2]
NM_024596.5(MCPH1):c.2452+176C>G
NM_024596.5(MCPH1):c.2452+17A>G
NM_024596.5(MCPH1):c.2452+4309G>A
NM_024596.5(MCPH1):c.2452+7del
NM_024596.5(MCPH1):c.2453-10C>G
NM_024596.5(MCPH1):c.2453-12CT[4] rs761267827
NM_024596.5(MCPH1):c.2453-12CT[6]
NM_024596.5(MCPH1):c.2453-17T>C
NM_024596.5(MCPH1):c.2453-19C>T
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024596.5(MCPH1):c.2453-271C>A rs2433148
NM_024596.5(MCPH1):c.2453-271C>T rs2433148
NM_024596.5(MCPH1):c.2453-4C>A
NM_024596.5(MCPH1):c.2453-4C>G
NM_024596.5(MCPH1):c.2453-5080C>G
NM_024596.5(MCPH1):c.2460C>T (p.Ile820=)
NM_024596.5(MCPH1):c.2463C>T (p.Thr821=)
NM_024596.5(MCPH1):c.246T>G (p.Ala82=)
NM_024596.5(MCPH1):c.2472G>A (p.Lys824=)
NM_024596.5(MCPH1):c.2484T>G (p.Pro828=)
NM_024596.5(MCPH1):c.2487A>C (p.Glu829Asp) rs587783740
NM_024596.5(MCPH1):c.2490C>T (p.Asn830=)
NM_024596.5(MCPH1):c.2494C>T (p.Leu832=)
NM_024596.5(MCPH1):c.2496A>G (p.Leu832=)
NM_024596.5(MCPH1):c.2497T>C (p.Leu833=)
NM_024596.5(MCPH1):c.2499G>A (p.Leu833=)
NM_024596.5(MCPH1):c.2502A>C (p.Ser834=)
NM_024596.5(MCPH1):c.252A>G (p.Ala84=)
NM_024596.5(MCPH1):c.258T>C (p.Ile86=)
NM_024596.5(MCPH1):c.261T>G (p.Asp87Glu)
NM_024596.5(MCPH1):c.275C>T (p.Pro92Leu)
NM_024596.5(MCPH1):c.279A>G (p.Ala93=) rs759764698
NM_024596.5(MCPH1):c.279A>T (p.Ala93=)
NM_024596.5(MCPH1):c.27A>G (p.Val9=)
NM_024596.5(MCPH1):c.294A>G (p.Glu98=)
NM_024596.5(MCPH1):c.305G>A (p.Ser102Asn) rs2290145
NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr) rs2290145
NM_024596.5(MCPH1):c.313A>T (p.Lys105Ter) rs1424203921
NM_024596.5(MCPH1):c.321+12A>T
NM_024596.5(MCPH1):c.321+18A>G
NM_024596.5(MCPH1):c.321+20G>T
NM_024596.5(MCPH1):c.321+2T>C
NM_024596.5(MCPH1):c.321+8C>T
NM_024596.5(MCPH1):c.321+9A>C
NM_024596.5(MCPH1):c.321+9A>G
NM_024596.5(MCPH1):c.321del (p.Lys107fs) rs759663956
NM_024596.5(MCPH1):c.321dup (p.Arg108fs) rs759663956
NM_024596.5(MCPH1):c.322-10T>C
NM_024596.5(MCPH1):c.322-12_322-10del
NM_024596.5(MCPH1):c.322-12_322-11del
NM_024596.5(MCPH1):c.322-13T>C
NM_024596.5(MCPH1):c.322-13dup
NM_024596.5(MCPH1):c.322-14T>C
NM_024596.5(MCPH1):c.322-17G>A
NM_024596.5(MCPH1):c.322-17G>C rs147245957
NM_024596.5(MCPH1):c.322-18T>A
NM_024596.5(MCPH1):c.322-19T>C
NM_024596.5(MCPH1):c.322-232T>C rs2979642
NM_024596.5(MCPH1):c.322-291G>T rs138429838
NM_024596.5(MCPH1):c.322-2A>G
NM_024596.5(MCPH1):c.322-2A>T
NM_024596.5(MCPH1):c.327A>G (p.Lys109=)
NM_024596.5(MCPH1):c.33C>G (p.Ala11=)
NM_024596.5(MCPH1):c.348del (p.Phe116fs)
NM_024596.5(MCPH1):c.352T>G (p.Phe118Val) rs2129554586
NM_024596.5(MCPH1):c.364G>T (p.Glu122Ter)
NM_024596.5(MCPH1):c.366A>G (p.Glu122=)
NM_024596.5(MCPH1):c.369T>C (p.Asn123=)
NM_024596.5(MCPH1):c.36T>C (p.Tyr12=)
NM_024596.5(MCPH1):c.382C>T (p.Gln128Ter)
NM_024596.5(MCPH1):c.40G>A (p.Glu14Lys) rs2129550760
NM_024596.5(MCPH1):c.414A>G (p.Leu138=)
NM_024596.5(MCPH1):c.423A>G (p.Gln141=)
NM_024596.5(MCPH1):c.425A>T (p.Lys142Ile)
NM_024596.5(MCPH1):c.432T>A (p.Asn144Lys) rs891865529
NM_024596.5(MCPH1):c.432T>C (p.Asn144=) rs891865529
NM_024596.5(MCPH1):c.433C>G (p.Leu145Val) rs139607465
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.436+105A>G rs2916757
NM_024596.5(MCPH1):c.436+10G>T
NM_024596.5(MCPH1):c.436+13A>G
NM_024596.5(MCPH1):c.436+15A>G
NM_024596.5(MCPH1):c.436+18A>G
NM_024596.5(MCPH1):c.436+20A>G
NM_024596.5(MCPH1):c.437-12G>A
NM_024596.5(MCPH1):c.437-12G>C
NM_024596.5(MCPH1):c.437-12_437-9del rs773256253
NM_024596.5(MCPH1):c.437-13dup rs552555248
NM_024596.5(MCPH1):c.437-19A>G
NM_024596.5(MCPH1):c.437-19A>T
NM_024596.5(MCPH1):c.437-20G>T
NM_024596.5(MCPH1):c.437-2A>G
NM_024596.5(MCPH1):c.437-3C>T
NM_024596.5(MCPH1):c.437-4T>C
NM_024596.5(MCPH1):c.441T>C (p.Asp147=)
NM_024596.5(MCPH1):c.456C>T (p.Leu152=)
NM_024596.5(MCPH1):c.457T>C (p.Leu153=)
NM_024596.5(MCPH1):c.45G>T (p.Val15=)
NM_024596.5(MCPH1):c.461T>G (p.Phe154Cys)
NM_024596.5(MCPH1):c.477A>C (p.Ser159=) rs41313948
NM_024596.5(MCPH1):c.479T>A (p.Leu160Ter)
NM_024596.5(MCPH1):c.484T>C (p.Tyr162His) rs761012601
NM_024596.5(MCPH1):c.486T>C (p.Tyr162=)
NM_024596.5(MCPH1):c.497T>A (p.Ile166Asn) rs765620307
NM_024596.5(MCPH1):c.510T>C (p.Ser170=)
NM_024596.5(MCPH1):c.522C>T (p.Ser174=)
NM_024596.5(MCPH1):c.525A>C (p.Ala175=)
NM_024596.5(MCPH1):c.543A>G (p.Gln181=)
NM_024596.5(MCPH1):c.54C>G (p.Ser18=)
NM_024596.5(MCPH1):c.54C>T (p.Ser18=)
NM_024596.5(MCPH1):c.552G>A (p.Lys184=)
NM_024596.5(MCPH1):c.558A>G (p.Lys186=)
NM_024596.5(MCPH1):c.561G>A (p.Arg187=)
NM_024596.5(MCPH1):c.566dup (p.Asn189fs) rs753597039
NM_024596.5(MCPH1):c.567T>C (p.Asn189=)
NM_024596.5(MCPH1):c.569T>C (p.Leu190Pro)
NM_024596.5(MCPH1):c.571T>C (p.Ser191Pro) rs2129554944
NM_024596.5(MCPH1):c.571del (p.Ser191fs)
NM_024596.5(MCPH1):c.576C>G (p.Pro192=)
NM_024596.5(MCPH1):c.580+12G>A
NM_024596.5(MCPH1):c.580+16G>T
NM_024596.5(MCPH1):c.580+17T>A
NM_024596.5(MCPH1):c.580+17T>C
NM_024596.5(MCPH1):c.580+19A>C
NM_024596.5(MCPH1):c.580+21del
NM_024596.5(MCPH1):c.580+276dup rs201822930
NM_024596.5(MCPH1):c.580+284_580+285dup rs34298347
NM_024596.5(MCPH1):c.580+285dup rs34298347
NM_024596.5(MCPH1):c.580+8_580+11del
NM_024596.5(MCPH1):c.581-11C>A
NM_024596.5(MCPH1):c.581-13G>T
NM_024596.5(MCPH1):c.581-14G>T
NM_024596.5(MCPH1):c.581-17C>G
NM_024596.5(MCPH1):c.581-29C>A rs140161935
NM_024596.5(MCPH1):c.581-7T>C
NM_024596.5(MCPH1):c.581-8G>C
NM_024596.5(MCPH1):c.595C>T (p.Gln199Ter)
NM_024596.5(MCPH1):c.597G>A (p.Gln199=)
NM_024596.5(MCPH1):c.5C>T (p.Ala2Val) rs759488210
NM_024596.5(MCPH1):c.627G>A (p.Leu209=) rs375026958
NM_024596.5(MCPH1):c.627G>T (p.Leu209=)
NM_024596.5(MCPH1):c.630_631del (p.Cys210_Glu211delinsTer)
NM_024596.5(MCPH1):c.633A>G (p.Glu211=)
NM_024596.5(MCPH1):c.634_638del (p.Ala212fs)
NM_024596.5(MCPH1):c.639T>G (p.Pro213=)
NM_024596.5(MCPH1):c.659C>G (p.Thr220Ser)
NM_024596.5(MCPH1):c.670+12A>C
NM_024596.5(MCPH1):c.670+12A>G
NM_024596.5(MCPH1):c.670+203dup rs34324014
NM_024596.5(MCPH1):c.670+3_670+19dup rs1441683402
NM_024596.5(MCPH1):c.671-15G>A
NM_024596.5(MCPH1):c.671-16C>T
NM_024596.5(MCPH1):c.671-17C>T
NM_024596.5(MCPH1):c.671-20T>C
NM_024596.5(MCPH1):c.671-7T>G
NM_024596.5(MCPH1):c.673G>T (p.Glu225Ter)
NM_024596.5(MCPH1):c.678C>T (p.Tyr226=)
NM_024596.5(MCPH1):c.681T>C (p.Phe227=)
NM_024596.5(MCPH1):c.694C>G (p.His232Asp)
NM_024596.5(MCPH1):c.696C>T (p.His232=)
NM_024596.5(MCPH1):c.6G>A (p.Ala2=)
NM_024596.5(MCPH1):c.72T>C (p.Tyr24=)
NM_024596.5(MCPH1):c.733G>T (p.Gly245Ter)
NM_024596.5(MCPH1):c.741G>A (p.Gln247=)
NM_024596.5(MCPH1):c.759A>G (p.Gly253=)
NM_024596.5(MCPH1):c.76_77del (p.Lys26fs)
NM_024596.5(MCPH1):c.771C>T (p.Asp257=)
NM_024596.5(MCPH1):c.783T>C (p.Asp261=)
NM_024596.5(MCPH1):c.797C>T (p.Ser266Leu) rs1803977781
NM_024596.5(MCPH1):c.7G>T (p.Ala3Ser) rs2129550282
NM_024596.5(MCPH1):c.805T>C (p.Leu269=)
NM_024596.5(MCPH1):c.818A>G (p.Asn273Ser) rs2129555606
NM_024596.5(MCPH1):c.81A>C (p.Thr27=)
NM_024596.5(MCPH1):c.821T>C (p.Ile274Thr)
NM_024596.5(MCPH1):c.826_829del (p.Ser276fs)
NM_024596.5(MCPH1):c.828A>G (p.Ser276=)
NM_024596.5(MCPH1):c.834A>G (p.Pro278=)
NM_024596.5(MCPH1):c.843T>C (p.Thr281=)
NM_024596.5(MCPH1):c.843_846del (p.His282fs)
NM_024596.5(MCPH1):c.849C>T (p.Leu283=)
NM_024596.5(MCPH1):c.857C>G (p.Ser286Ter)
NM_024596.5(MCPH1):c.873del (p.Phe291_Leu292insTer)
NM_024596.5(MCPH1):c.876G>T (p.Leu292=)
NM_024596.5(MCPH1):c.87A>C (p.Thr29=)
NM_024596.5(MCPH1):c.906G>A (p.Leu302=)
NM_024596.5(MCPH1):c.909_921del (p.Arg304fs)
NM_024596.5(MCPH1):c.90A>G (p.Thr30=) rs139678787
NM_024596.5(MCPH1):c.90A>T (p.Thr30=)
NM_024596.5(MCPH1):c.921A>G (p.Ala307=)
NM_024596.5(MCPH1):c.924T>C (p.Gly308=)
NM_024596.5(MCPH1):c.942C>T (p.Asp314=)
NM_024596.5(MCPH1):c.94del (p.Val33fs)
NM_024596.5(MCPH1):c.954T>G (p.Ala318=)
NM_024596.5(MCPH1):c.957A>G (p.Ala319=)
NM_024596.5(MCPH1):c.961A>C (p.Met321Leu)
NM_024596.5(MCPH1):c.969G>A (p.Gln323=)
NM_024596.5(MCPH1):c.987G>A (p.Lys329=)
NM_024596.5(MCPH1):c.987G>T (p.Lys329Asn)
NM_024596.5(MCPH1):c.999T>G (p.Ser333=)
NM_024596.5(MCPH1):c.99G>A (p.Val33=)
NM_024596.5(MCPH1):c.9C>G (p.Ala3=)
NM_024596.5(MCPH1):c.9C>T (p.Ala3=)

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