ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease recessive intermediate C by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 594
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.1393-19C>T rs771920742 0.03659
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399 0.00247
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met) rs141032388 0.00209
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met) rs112530241 0.00171
NM_020631.6(PLEKHG5):c.2162_2163insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu721fs) rs1456598112 0.00164
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00156
NM_020631.6(PLEKHG5):c.1019C>T (p.Ala340Val) rs72861528 0.00138
NM_020631.6(PLEKHG5):c.509C>T (p.Pro170Leu) rs59117380 0.00137
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00108
NM_020631.6(PLEKHG5):c.2677G>A (p.Gly893Arg) rs200407689 0.00091
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_020631.6(PLEKHG5):c.3011+9C>T rs144809602 0.00054
NM_020631.6(PLEKHG5):c.1023G>A (p.Val341=) rs199903533 0.00050
NM_020631.6(PLEKHG5):c.1801-14del rs762416489 0.00046
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275 0.00045
NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=) rs144859183 0.00041
NM_020631.6(PLEKHG5):c.2424G>A (p.Val808=) rs151184761 0.00030
NM_020631.6(PLEKHG5):c.1530C>T (p.Ala510=) rs61734080 0.00029
NM_020631.6(PLEKHG5):c.2070T>C (p.Arg690=) rs141100808 0.00024
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021 0.00021
NM_020631.6(PLEKHG5):c.639G>A (p.Ala213=) rs560366406 0.00018
NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509 0.00017
NM_020631.6(PLEKHG5):c.1302C>T (p.Pro434=) rs755428930 0.00016
NM_020631.6(PLEKHG5):c.783C>T (p.Ser261=) rs61738905 0.00016
NM_020631.6(PLEKHG5):c.984+11G>A rs369478125 0.00015
NM_020631.6(PLEKHG5):c.1681-8G>C rs139041955 0.00013
NM_020631.6(PLEKHG5):c.2610G>A (p.Pro870=) rs373880458 0.00012
NM_020631.6(PLEKHG5):c.414C>T (p.Phe138=) rs375075005 0.00012
NM_020631.6(PLEKHG5):c.1497G>A (p.Leu499=) rs749662321 0.00011
NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894 0.00011
NM_020631.6(PLEKHG5):c.1182C>T (p.His394=) rs754889755 0.00010
NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137 0.00010
NM_020631.6(PLEKHG5):c.1393-10C>A rs768925221 0.00009
NM_020631.6(PLEKHG5):c.2967C>T (p.Tyr989=) rs773618556 0.00009
NM_020631.6(PLEKHG5):c.1393-5C>T rs780578894 0.00008
NM_020631.6(PLEKHG5):c.186G>A (p.Lys62=) rs372405586 0.00008
NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443 0.00008
NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744 0.00007
NM_020631.6(PLEKHG5):c.2598G>A (p.Leu866=) rs368328495 0.00007
NM_020631.6(PLEKHG5):c.439+12C>G rs778853521 0.00007
NM_020631.6(PLEKHG5):c.1614G>T (p.Leu538=) rs754624083 0.00006
NM_020631.6(PLEKHG5):c.1680+19G>A rs367829100 0.00006
NM_020631.6(PLEKHG5):c.2421G>A (p.Pro807=) rs767407997 0.00006
NM_020631.6(PLEKHG5):c.768C>T (p.Ser256=) rs780935962 0.00006
NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=) rs370572859 0.00006
NM_020631.6(PLEKHG5):c.984+13C>G rs202154066 0.00006
NM_020631.6(PLEKHG5):c.984+7G>A rs111681677 0.00006
NM_020631.6(PLEKHG5):c.1455C>T (p.His485=) rs368630744 0.00005
NM_020631.6(PLEKHG5):c.1617G>T (p.Ala539=) rs545959722 0.00005
NM_020631.6(PLEKHG5):c.2361C>T (p.Thr787=) rs201054338 0.00005
NM_020631.6(PLEKHG5):c.834C>T (p.His278=) rs368463952 0.00005
NM_020631.6(PLEKHG5):c.1383C>T (p.Ala461=) rs200957791 0.00004
NM_020631.6(PLEKHG5):c.1572C>T (p.His524=) rs373184968 0.00004
NM_020631.6(PLEKHG5):c.2034C>T (p.Thr678=) rs755808760 0.00004
NM_020631.6(PLEKHG5):c.2226C>T (p.Ser742=) rs370761668 0.00004
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521 0.00004
NM_020631.6(PLEKHG5):c.2676T>C (p.His892=) rs758308121 0.00004
NM_020631.6(PLEKHG5):c.531C>T (p.Thr177=) rs567059799 0.00004
NM_020631.6(PLEKHG5):c.558C>T (p.Asp186=) rs767157981 0.00004
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=) rs556687525 0.00004
NM_020631.6(PLEKHG5):c.84G>A (p.Pro28=) rs140428005 0.00004
NM_020631.6(PLEKHG5):c.909C>T (p.Tyr303=) rs376900021 0.00004
NM_020631.6(PLEKHG5):c.984+8C>T rs373560661 0.00004
NM_020631.6(PLEKHG5):c.210+16G>T rs751082247 0.00003
NM_020631.6(PLEKHG5):c.211-20C>T rs990630026 0.00003
NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639 0.00003
NM_020631.6(PLEKHG5):c.399C>T (p.Phe133=) rs369888151 0.00003
NM_020631.6(PLEKHG5):c.813G>A (p.Glu271=) rs777414805 0.00003
NM_020631.6(PLEKHG5):c.849C>T (p.Phe283=) rs750570012 0.00003
NM_020631.6(PLEKHG5):c.1293C>T (p.Leu431=) rs758869678 0.00002
NM_020631.6(PLEKHG5):c.1356G>A (p.Leu452=) rs775124601 0.00002
NM_020631.6(PLEKHG5):c.1731C>T (p.Ala577=) rs138441206 0.00002
NM_020631.6(PLEKHG5):c.2049+9A>G rs368743607 0.00002
NM_020631.6(PLEKHG5):c.2124G>A (p.Glu708=) rs370521517 0.00002
NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=) rs147386989 0.00002
NM_020631.6(PLEKHG5):c.2391G>A (p.Thr797=) rs1330946628 0.00002
NM_020631.6(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788 0.00002
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412 0.00002
NM_020631.6(PLEKHG5):c.2505A>T (p.Pro835=) rs201034547 0.00002
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=) rs758214289 0.00002
NM_020631.6(PLEKHG5):c.2811C>T (p.Ser937=) rs1232546435 0.00002
NM_020631.6(PLEKHG5):c.2838C>T (p.Ala946=) rs573561537 0.00002
NM_020631.6(PLEKHG5):c.2856C>T (p.Ser952=) rs759718802 0.00002
NM_020631.6(PLEKHG5):c.3012-12C>T rs752907238 0.00002
NM_020631.6(PLEKHG5):c.440-11C>T rs747418024 0.00002
NM_020631.6(PLEKHG5):c.477G>A (p.Gln159=) rs373744190 0.00002
NM_020631.6(PLEKHG5):c.795+13A>G rs766753209 0.00002
NM_020631.6(PLEKHG5):c.796-4C>T rs1315270235 0.00002
NM_020631.6(PLEKHG5):c.903G>A (p.Glu301=) rs780277728 0.00002
NM_020631.6(PLEKHG5):c.99C>T (p.Pro33=) rs775878865 0.00002
NM_020631.6(PLEKHG5):c.1020G>A (p.Ala340=) rs562623276 0.00001
NM_020631.6(PLEKHG5):c.1041G>A (p.Thr347=) rs779051638 0.00001
NM_020631.6(PLEKHG5):c.1068G>A (p.Arg356=) rs1272202008 0.00001
NM_020631.6(PLEKHG5):c.1081-19C>T rs1057524719 0.00001
NM_020631.6(PLEKHG5):c.1132-17C>T rs1424401681 0.00001
NM_020631.6(PLEKHG5):c.1132-8G>T rs1357497658 0.00001
NM_020631.6(PLEKHG5):c.1152C>T (p.Phe384=) rs775687640 0.00001
NM_020631.6(PLEKHG5):c.1227G>C (p.Ala409=) rs1004728643 0.00001
NM_020631.6(PLEKHG5):c.1230G>T (p.Arg410=) rs775775743 0.00001
NM_020631.6(PLEKHG5):c.1243C>T (p.Leu415=) rs771030645 0.00001
NM_020631.6(PLEKHG5):c.12T>C (p.Asp4=) rs772435791 0.00001
NM_020631.6(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735 0.00001
NM_020631.6(PLEKHG5):c.1410A>G (p.Pro470=) rs200406088 0.00001
NM_020631.6(PLEKHG5):c.1428G>A (p.Lys476=) rs1243221708 0.00001
NM_020631.6(PLEKHG5):c.1443G>A (p.Leu481=) rs1175716993 0.00001
NM_020631.6(PLEKHG5):c.150-11C>A rs369136414 0.00001
NM_020631.6(PLEKHG5):c.150-13C>T rs373087396 0.00001
NM_020631.6(PLEKHG5):c.1506C>T (p.Thr502=) rs570632527 0.00001
NM_020631.6(PLEKHG5):c.1524G>A (p.Lys508=) rs777894074 0.00001
NM_020631.6(PLEKHG5):c.1575G>C (p.Val525=) rs1488054852 0.00001
NM_020631.6(PLEKHG5):c.1596G>A (p.Arg532=) rs777519794 0.00001
NM_020631.6(PLEKHG5):c.1647G>A (p.Glu549=) rs770781624 0.00001
NM_020631.6(PLEKHG5):c.168C>T (p.Gly56=) rs1366828227 0.00001
NM_020631.6(PLEKHG5):c.1707C>T (p.Asp569=) rs1033319065 0.00001
NM_020631.6(PLEKHG5):c.1836G>A (p.Leu612=) rs1026753861 0.00001
NM_020631.6(PLEKHG5):c.1890C>T (p.Pro630=) rs1280465351 0.00001
NM_020631.6(PLEKHG5):c.1929C>T (p.Asp643=) rs1644505211 0.00001
NM_020631.6(PLEKHG5):c.1933+17C>T rs766391240 0.00001
NM_020631.6(PLEKHG5):c.1933+18C>T rs369940156 0.00001
NM_020631.6(PLEKHG5):c.1935G>A (p.Gly645=) rs147140763 0.00001
NM_020631.6(PLEKHG5):c.1980G>A (p.Gly660=) rs751242417 0.00001
NM_020631.6(PLEKHG5):c.2049+10G>A rs1478987550 0.00001
NM_020631.6(PLEKHG5):c.210+20C>T rs777308688 0.00001
NM_020631.6(PLEKHG5):c.2142A>G (p.Glu714=) rs750902394 0.00001
NM_020631.6(PLEKHG5):c.2235C>T (p.Pro745=) rs1323858843 0.00001
NM_020631.6(PLEKHG5):c.2250-5C>T rs746215440 0.00001
NM_020631.6(PLEKHG5):c.2268G>A (p.Thr756=) rs757831916 0.00001
NM_020631.6(PLEKHG5):c.2316C>T (p.Ser772=) rs1342219532 0.00001
NM_020631.6(PLEKHG5):c.2325C>T (p.Phe775=) rs1644465541 0.00001
NM_020631.6(PLEKHG5):c.2565G>A (p.Ser855=) rs372308060 0.00001
NM_020631.6(PLEKHG5):c.2772G>A (p.Gly924=) rs1644444867 0.00001
NM_020631.6(PLEKHG5):c.2796C>T (p.Ala932=) rs1315817273 0.00001
NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=) rs749891873 0.00001
NM_020631.6(PLEKHG5):c.2841G>A (p.Gly947=) rs753283144 0.00001
NM_020631.6(PLEKHG5):c.2892C>G (p.Ala964=) rs1388065890 0.00001
NM_020631.6(PLEKHG5):c.2916C>G (p.Pro972=) rs923660925 0.00001
NM_020631.6(PLEKHG5):c.2952C>T (p.Thr984=) rs886046497 0.00001
NM_020631.6(PLEKHG5):c.474G>A (p.Glu158=) rs751440606 0.00001
NM_020631.6(PLEKHG5):c.621G>A (p.Ser207=) rs973366523 0.00001
NM_020631.6(PLEKHG5):c.63C>T (p.Asn21=) rs138432284 0.00001
NM_020631.6(PLEKHG5):c.648C>T (p.Pro216=) rs1030435109 0.00001
NM_020631.6(PLEKHG5):c.663C>T (p.Pro221=) rs577756377 0.00001
NM_020631.6(PLEKHG5):c.702C>T (p.Gly234=) rs904191245 0.00001
NM_020631.6(PLEKHG5):c.705C>T (p.Ser235=) rs573567464 0.00001
NM_020631.6(PLEKHG5):c.765C>T (p.Ser255=) rs566596803 0.00001
NM_020631.6(PLEKHG5):c.777C>T (p.Ser259=) rs373244537 0.00001
NM_020631.6(PLEKHG5):c.795+12C>T rs754372537 0.00001
NM_020631.6(PLEKHG5):c.984+12C>T rs1322343243 0.00001
NM_020631.6(PLEKHG5):c.984+9G>A rs746193927 0.00001
NM_020631.6(PLEKHG5):c.985-6C>T rs1371350296 0.00001
NM_020631.6(PLEKHG5):c.1002G>A (p.Gln334=)
NM_020631.6(PLEKHG5):c.1029G>A (p.Glu343=)
NM_020631.6(PLEKHG5):c.102A>G (p.Ala34=) rs771144155
NM_020631.6(PLEKHG5):c.1032G>T (p.Leu344=)
NM_020631.6(PLEKHG5):c.1033C>T (p.Leu345=)
NM_020631.6(PLEKHG5):c.1035G>A (p.Leu345=)
NM_020631.6(PLEKHG5):c.1047C>T (p.Ala349=) rs187107798
NM_020631.6(PLEKHG5):c.1050C>G (p.Ser350=) rs1290410043
NM_020631.6(PLEKHG5):c.1065G>T (p.Leu355=) rs2148587100
NM_020631.6(PLEKHG5):c.1080+11G>A
NM_020631.6(PLEKHG5):c.1080+12C>T
NM_020631.6(PLEKHG5):c.1080+13T>C
NM_020631.6(PLEKHG5):c.1080+15C>G
NM_020631.6(PLEKHG5):c.1080+15C>T
NM_020631.6(PLEKHG5):c.1080+16G>A
NM_020631.6(PLEKHG5):c.1080+16G>C
NM_020631.6(PLEKHG5):c.1080+16G>T
NM_020631.6(PLEKHG5):c.1080+17C>T
NM_020631.6(PLEKHG5):c.1080+18T>A
NM_020631.6(PLEKHG5):c.1081-11T>C
NM_020631.6(PLEKHG5):c.1081-12C>G
NM_020631.6(PLEKHG5):c.1081-8T>C
NM_020631.6(PLEKHG5):c.1098C>G (p.Leu366=) rs1553174372
NM_020631.6(PLEKHG5):c.1099C>T (p.Leu367=)
NM_020631.6(PLEKHG5):c.1131+10G>A
NM_020631.6(PLEKHG5):c.1131+15G>A
NM_020631.6(PLEKHG5):c.1131+18G>T
NM_020631.6(PLEKHG5):c.1131+19G>C
NM_020631.6(PLEKHG5):c.1132-15dup
NM_020631.6(PLEKHG5):c.1132-20G>C
NM_020631.6(PLEKHG5):c.1132-3del
NM_020631.6(PLEKHG5):c.1132-6G>C rs1569860714
NM_020631.6(PLEKHG5):c.1132-7C>A
NM_020631.6(PLEKHG5):c.1170C>A (p.Ile390=)
NM_020631.6(PLEKHG5):c.1173G>T (p.Ala391=) rs1224927053
NM_020631.6(PLEKHG5):c.1200C>T (p.Ser400=)
NM_020631.6(PLEKHG5):c.1209G>T (p.Ala403=)
NM_020631.6(PLEKHG5):c.1215G>A (p.Val405=) rs757671338
NM_020631.6(PLEKHG5):c.1215G>C (p.Val405=)
NM_020631.6(PLEKHG5):c.1218G>A (p.Leu406=)
NM_020631.6(PLEKHG5):c.1230G>C (p.Arg410=)
NM_020631.6(PLEKHG5):c.1248A>G (p.Leu416=)
NM_020631.6(PLEKHG5):c.1251G>A (p.Gln417=)
NM_020631.6(PLEKHG5):c.1263C>T (p.Phe421=)
NM_020631.6(PLEKHG5):c.1266C>T (p.Leu422=)
NM_020631.6(PLEKHG5):c.1278G>A (p.Lys426=)
NM_020631.6(PLEKHG5):c.1281+14C>T
NM_020631.6(PLEKHG5):c.1281+19G>T
NM_020631.6(PLEKHG5):c.1281+19_1281+30del
NM_020631.6(PLEKHG5):c.1281+8C>G
NM_020631.6(PLEKHG5):c.1281+9G>A
NM_020631.6(PLEKHG5):c.1282-18T>G
NM_020631.6(PLEKHG5):c.1282-19_1282-18insG
NM_020631.6(PLEKHG5):c.1282-6G>T
NM_020631.6(PLEKHG5):c.1282-7G>C
NM_020631.6(PLEKHG5):c.1282-7G>T
NM_020631.6(PLEKHG5):c.1293C>G (p.Leu431=)
NM_020631.6(PLEKHG5):c.1314C>T (p.Tyr438=)
NM_020631.6(PLEKHG5):c.1335C>T (p.Cys445=)
NM_020631.6(PLEKHG5):c.1344C>T (p.Tyr448=)
NM_020631.6(PLEKHG5):c.1353C>T (p.Gly451=)
NM_020631.6(PLEKHG5):c.1354C>T (p.Leu452=)
NM_020631.6(PLEKHG5):c.1362C>T (p.Arg454=) rs1644560362
NM_020631.6(PLEKHG5):c.1374C>T (p.Leu458=) rs1346162495
NM_020631.6(PLEKHG5):c.1377C>T (p.Phe459=)
NM_020631.6(PLEKHG5):c.1380G>A (p.Arg460=)
NM_020631.6(PLEKHG5):c.1392+10_1392+24del rs1064795162
NM_020631.6(PLEKHG5):c.1392+12C>T
NM_020631.6(PLEKHG5):c.1392+13G>C
NM_020631.6(PLEKHG5):c.1392+14_1392+34del
NM_020631.6(PLEKHG5):c.1392+15G>A rs1190288914
NM_020631.6(PLEKHG5):c.1392+16C>T
NM_020631.6(PLEKHG5):c.1392+17C>T
NM_020631.6(PLEKHG5):c.1392+9G>C
NM_020631.6(PLEKHG5):c.1393-11C>T
NM_020631.6(PLEKHG5):c.1393-14C>T
NM_020631.6(PLEKHG5):c.1393-15A>G
NM_020631.6(PLEKHG5):c.1393-4G>A
NM_020631.6(PLEKHG5):c.1393-6C>A
NM_020631.6(PLEKHG5):c.1393-9C>A
NM_020631.6(PLEKHG5):c.1393-9C>G
NM_020631.6(PLEKHG5):c.1407C>T (p.His469=)
NM_020631.6(PLEKHG5):c.1423C>T (p.Leu475=) rs2148582975
NM_020631.6(PLEKHG5):c.1434C>T (p.Ser478=)
NM_020631.6(PLEKHG5):c.1458G>A (p.Gln486=)
NM_020631.6(PLEKHG5):c.1476G>A (p.Pro492=)
NM_020631.6(PLEKHG5):c.1476G>T (p.Pro492=)
NM_020631.6(PLEKHG5):c.147A>G (p.Lys49=)
NM_020631.6(PLEKHG5):c.149+13T>C
NM_020631.6(PLEKHG5):c.149+13T>G
NM_020631.6(PLEKHG5):c.149+20G>A
NM_020631.6(PLEKHG5):c.150-11C>T
NM_020631.6(PLEKHG5):c.150-12G>A
NM_020631.6(PLEKHG5):c.150-15_150-13del rs773870699
NM_020631.6(PLEKHG5):c.150-16C>T
NM_020631.6(PLEKHG5):c.150-19C>T
NM_020631.6(PLEKHG5):c.150-8C>T
NM_020631.6(PLEKHG5):c.1506C>A (p.Thr502=)
NM_020631.6(PLEKHG5):c.1515G>A (p.Pro505=)
NM_020631.6(PLEKHG5):c.1518C>T (p.Arg506=)
NM_020631.6(PLEKHG5):c.1533C>T (p.Val511=)
NM_020631.6(PLEKHG5):c.1542+10A>G
NM_020631.6(PLEKHG5):c.1542+16A>T
NM_020631.6(PLEKHG5):c.1542+18C>G
NM_020631.6(PLEKHG5):c.1542+18C>T
NM_020631.6(PLEKHG5):c.1542+19G>A
NM_020631.6(PLEKHG5):c.1542+19G>C
NM_020631.6(PLEKHG5):c.1542+8T>C
NM_020631.6(PLEKHG5):c.1543-11C>T
NM_020631.6(PLEKHG5):c.1543-16C>T
NM_020631.6(PLEKHG5):c.1543-4C>G
NM_020631.6(PLEKHG5):c.1543-4C>T
NM_020631.6(PLEKHG5):c.1543-5C>T rs1281567980
NM_020631.6(PLEKHG5):c.1543-6C>T
NM_020631.6(PLEKHG5):c.1545C>T (p.Ile515=) rs762389784
NM_020631.6(PLEKHG5):c.1548C>T (p.Gly516=)
NM_020631.6(PLEKHG5):c.1551C>T (p.Ser517=)
NM_020631.6(PLEKHG5):c.1566C>T (p.Ile522=)
NM_020631.6(PLEKHG5):c.1569C>T (p.His523=) rs967572264
NM_020631.6(PLEKHG5):c.1581G>A (p.Ala527=) rs773262365
NM_020631.6(PLEKHG5):c.1581G>T (p.Ala527=)
NM_020631.6(PLEKHG5):c.15G>A (p.Gly5=)
NM_020631.6(PLEKHG5):c.1602G>A (p.Glu534=)
NM_020631.6(PLEKHG5):c.1617G>A (p.Ala539=)
NM_020631.6(PLEKHG5):c.1617G>C (p.Ala539=)
NM_020631.6(PLEKHG5):c.1620C>T (p.Ala540=)
NM_020631.6(PLEKHG5):c.1623G>A (p.Val541=)
NM_020631.6(PLEKHG5):c.1626G>T (p.Val542=)
NM_020631.6(PLEKHG5):c.1635C>T (p.Ile545=) rs1569851488
NM_020631.6(PLEKHG5):c.1644C>T (p.Tyr548=)
NM_020631.6(PLEKHG5):c.1650G>T (p.Val550=)
NM_020631.6(PLEKHG5):c.1653G>A (p.Val551=)
NM_020631.6(PLEKHG5):c.1659C>T (p.Ser553=)
NM_020631.6(PLEKHG5):c.1677C>T (p.Asp559=)
NM_020631.6(PLEKHG5):c.1680+13G>A
NM_020631.6(PLEKHG5):c.1680+17G>A
NM_020631.6(PLEKHG5):c.1680+18C>G
NM_020631.6(PLEKHG5):c.1680+18C>T rs758693239
NM_020631.6(PLEKHG5):c.1680+7G>A
NM_020631.6(PLEKHG5):c.1680+7G>C
NM_020631.6(PLEKHG5):c.1680+7G>T
NM_020631.6(PLEKHG5):c.1681-15G>A
NM_020631.6(PLEKHG5):c.1681-16C>T
NM_020631.6(PLEKHG5):c.1681-17A>G
NM_020631.6(PLEKHG5):c.1681-27_1681-3dup rs748372368
NM_020631.6(PLEKHG5):c.1681-5C>T
NM_020631.6(PLEKHG5):c.1681-6C>T
NM_020631.6(PLEKHG5):c.1681-8G>A
NM_020631.6(PLEKHG5):c.1681-9C>G rs373133607
NM_020631.6(PLEKHG5):c.1681-9C>T rs373133607
NM_020631.6(PLEKHG5):c.1686G>C (p.Leu562=) rs1416853157
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=) rs1644528365
NM_020631.6(PLEKHG5):c.1716G>A (p.Ala572=)
NM_020631.6(PLEKHG5):c.1725T>A (p.Pro575=) rs1644527800
NM_020631.6(PLEKHG5):c.1728C>T (p.Gly576=)
NM_020631.6(PLEKHG5):c.1734C>T (p.Ser578=)
NM_020631.6(PLEKHG5):c.1737G>A (p.Pro579=)
NM_020631.6(PLEKHG5):c.1737G>T (p.Pro579=)
NM_020631.6(PLEKHG5):c.1743G>A (p.Glu581=) rs1401679164
NM_020631.6(PLEKHG5):c.1752G>A (p.Gln584=)
NM_020631.6(PLEKHG5):c.1776G>A (p.Arg592=)
NM_020631.6(PLEKHG5):c.1782G>A (p.Lys594=) rs762805368
NM_020631.6(PLEKHG5):c.1800+10G>A
NM_020631.6(PLEKHG5):c.1800+16C>A
NM_020631.6(PLEKHG5):c.1800+19C>T
NM_020631.6(PLEKHG5):c.1801-10_1801-8del
NM_020631.6(PLEKHG5):c.1801-15C>G
NM_020631.6(PLEKHG5):c.1801-15C>T
NM_020631.6(PLEKHG5):c.1801-16C>A rs369955570
NM_020631.6(PLEKHG5):c.1801-16C>G
NM_020631.6(PLEKHG5):c.1801-16C>T rs369955570
NM_020631.6(PLEKHG5):c.1801-17C>A
NM_020631.6(PLEKHG5):c.1801-17C>G rs373357833
NM_020631.6(PLEKHG5):c.1801-17C>T
NM_020631.6(PLEKHG5):c.1801-18C>G
NM_020631.6(PLEKHG5):c.1801-20C>G
NM_020631.6(PLEKHG5):c.1809G>A (p.Val603=)
NM_020631.6(PLEKHG5):c.180C>T (p.Ser60=)
NM_020631.6(PLEKHG5):c.1812C>T (p.Tyr604=)
NM_020631.6(PLEKHG5):c.1815C>T (p.Cys605=)
NM_020631.6(PLEKHG5):c.1834C>T (p.Leu612=)
NM_020631.6(PLEKHG5):c.1842G>A (p.Val614=)
NM_020631.6(PLEKHG5):c.1845C>T (p.Thr615=)
NM_020631.6(PLEKHG5):c.1860G>A (p.Lys620=)
NM_020631.6(PLEKHG5):c.1869G>A (p.Arg623=)
NM_020631.6(PLEKHG5):c.1872C>G (p.Thr624=)
NM_020631.6(PLEKHG5):c.1878C>T (p.Val626=)
NM_020631.6(PLEKHG5):c.1884G>A (p.Arg628=)
NM_020631.6(PLEKHG5):c.1893G>A (p.Leu631=) rs2148579764
NM_020631.6(PLEKHG5):c.1933+10C>A
NM_020631.6(PLEKHG5):c.1933+12T>C rs2148579594
NM_020631.6(PLEKHG5):c.1933+14G>T
NM_020631.6(PLEKHG5):c.1933+19C>G
NM_020631.6(PLEKHG5):c.1933+9C>T
NM_020631.6(PLEKHG5):c.1934-17G>T
NM_020631.6(PLEKHG5):c.1934-9C>G rs373933352
NM_020631.6(PLEKHG5):c.1935G>T (p.Gly645=) rs147140763
NM_020631.6(PLEKHG5):c.1989G>A (p.Thr663=)
NM_020631.6(PLEKHG5):c.1998C>T (p.Ala666=)
NM_020631.6(PLEKHG5):c.2040C>T (p.Tyr680=)
NM_020631.6(PLEKHG5):c.2049+11A>G rs1557737418
NM_020631.6(PLEKHG5):c.2049+7G>A
NM_020631.6(PLEKHG5):c.2049+8C>G
NM_020631.6(PLEKHG5):c.2050-10T>A
NM_020631.6(PLEKHG5):c.2050-11C>G
NM_020631.6(PLEKHG5):c.2050-12C>T
NM_020631.6(PLEKHG5):c.2050-14A>G
NM_020631.6(PLEKHG5):c.2050-16C>T
NM_020631.6(PLEKHG5):c.2050-9T>G
NM_020631.6(PLEKHG5):c.2052C>T (p.Asn684=)
NM_020631.6(PLEKHG5):c.2056C>T (p.Leu686=) rs1569842648
NM_020631.6(PLEKHG5):c.2076G>A (p.Gln692=)
NM_020631.6(PLEKHG5):c.207G>A (p.Thr69=)
NM_020631.6(PLEKHG5):c.2088C>T (p.Gly696=)
NM_020631.6(PLEKHG5):c.210+14C>G
NM_020631.6(PLEKHG5):c.210+15A>G
NM_020631.6(PLEKHG5):c.210+9C>T
NM_020631.6(PLEKHG5):c.211-16C>T
NM_020631.6(PLEKHG5):c.211-17C>T
NM_020631.6(PLEKHG5):c.211-22CCCACC[3]
NM_020631.6(PLEKHG5):c.211-23_211-14dup
NM_020631.6(PLEKHG5):c.211-4C>G
NM_020631.6(PLEKHG5):c.211-5C>A
NM_020631.6(PLEKHG5):c.211-5C>T
NM_020631.6(PLEKHG5):c.211-7C>A
NM_020631.6(PLEKHG5):c.2112G>A (p.Leu704=)
NM_020631.6(PLEKHG5):c.2130G>A (p.Glu710=)
NM_020631.6(PLEKHG5):c.2139G>A (p.Glu713=)
NM_020631.6(PLEKHG5):c.2148G>A (p.Glu716=) rs1569841449
NM_020631.6(PLEKHG5):c.2151G>A (p.Glu717=)
NM_020631.6(PLEKHG5):c.2154G>A (p.Glu718=) rs1410366410
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.6(PLEKHG5):c.2163delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu)
NM_020631.6(PLEKHG5):c.2199C>T (p.Ser733=)
NM_020631.6(PLEKHG5):c.2208C>G (p.Thr736=)
NM_020631.6(PLEKHG5):c.2217G>A (p.Arg739=)
NM_020631.6(PLEKHG5):c.2229C>T (p.Gly743=)
NM_020631.6(PLEKHG5):c.2232C>T (p.Ser744=)
NM_020631.6(PLEKHG5):c.2241T>C (p.Ser747=)
NM_020631.6(PLEKHG5):c.2244G>A (p.Gln748=) rs1569839599
NM_020631.6(PLEKHG5):c.2249+12C>T
NM_020631.6(PLEKHG5):c.2249+14T>C
NM_020631.6(PLEKHG5):c.2249+14T>G
NM_020631.6(PLEKHG5):c.2249+16A>G rs2148577839
NM_020631.6(PLEKHG5):c.2250-12C>G
NM_020631.6(PLEKHG5):c.2250-15C>T
NM_020631.6(PLEKHG5):c.2250-18C>G
NM_020631.6(PLEKHG5):c.2253C>T (p.Ala751=)
NM_020631.6(PLEKHG5):c.2265C>A (p.Ser755=)
NM_020631.6(PLEKHG5):c.2274C>A (p.Thr758=)
NM_020631.6(PLEKHG5):c.2280C>T (p.Ala760=) rs2148576793
NM_020631.6(PLEKHG5):c.2292A>G (p.Val764=)
NM_020631.6(PLEKHG5):c.2301G>C (p.Gly767=)
NM_020631.6(PLEKHG5):c.2316C>A (p.Ser772=)
NM_020631.6(PLEKHG5):c.2319C>G (p.Pro773=) rs80031446
NM_020631.6(PLEKHG5):c.2334T>G (p.Gly778=)
NM_020631.6(PLEKHG5):c.2352T>G (p.Ser784=) rs2148576624
NM_020631.6(PLEKHG5):c.2397C>T (p.Thr799=)
NM_020631.6(PLEKHG5):c.2400T>C (p.Ser800=)
NM_020631.6(PLEKHG5):c.2418T>C (p.Gly806=)
NM_020631.6(PLEKHG5):c.2421G>C (p.Pro807=)
NM_020631.6(PLEKHG5):c.2439C>T (p.Cys813=)
NM_020631.6(PLEKHG5):c.2442C>T (p.Ser814=)
NM_020631.6(PLEKHG5):c.2451T>C (p.Ser817=)
NM_020631.6(PLEKHG5):c.2454C>G (p.Ala818=)
NM_020631.6(PLEKHG5):c.2463C>G (p.Thr821=)
NM_020631.6(PLEKHG5):c.2472A>G (p.Pro824=)
NM_020631.6(PLEKHG5):c.2496C>A (p.Ala832=)
NM_020631.6(PLEKHG5):c.2496C>T (p.Ala832=)
NM_020631.6(PLEKHG5):c.249G>C (p.Leu83=)
NM_020631.6(PLEKHG5):c.2502C>T (p.Gly834=)
NM_020631.6(PLEKHG5):c.2505A>G (p.Pro835=)
NM_020631.6(PLEKHG5):c.2520G>A (p.Val840=) rs2148576118
NM_020631.6(PLEKHG5):c.2538C>A (p.Ser846=) rs776995250
NM_020631.6(PLEKHG5):c.2553C>T (p.Ser851=) rs2148575994
NM_020631.6(PLEKHG5):c.2589T>C (p.Pro863=)
NM_020631.6(PLEKHG5):c.2596C>T (p.Leu866=)
NM_020631.6(PLEKHG5):c.2622C>G (p.Leu874=)
NM_020631.6(PLEKHG5):c.2646C>T (p.Leu882=)
NM_020631.6(PLEKHG5):c.2658G>A (p.Leu886=)
NM_020631.6(PLEKHG5):c.2679G>A (p.Gly893=)
NM_020631.6(PLEKHG5):c.2691C>G (p.Ala897=) rs755539639
NM_020631.6(PLEKHG5):c.2721G>A (p.Leu907=)
NM_020631.6(PLEKHG5):c.2733C>A (p.Ala911=)
NM_020631.6(PLEKHG5):c.2733C>T (p.Ala911=)
NM_020631.6(PLEKHG5):c.2736A>C (p.Pro912=)
NM_020631.6(PLEKHG5):c.273C>A (p.Ile91=)
NM_020631.6(PLEKHG5):c.2745G>A (p.Arg915=)
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del) rs536097668
NM_020631.6(PLEKHG5):c.2793G>A (p.Gly931=)
NM_020631.6(PLEKHG5):c.2796C>G (p.Ala932=)
NM_020631.6(PLEKHG5):c.2799T>G (p.Pro933=) rs779825659
NM_020631.6(PLEKHG5):c.27C>T (p.Phe9=)
NM_020631.6(PLEKHG5):c.2838C>G (p.Ala946=) rs573561537
NM_020631.6(PLEKHG5):c.2868G>A (p.Arg956=)
NM_020631.6(PLEKHG5):c.2883C>T (p.Pro961=)
NM_020631.6(PLEKHG5):c.2886G>A (p.Ser962=) rs749015188
NM_020631.6(PLEKHG5):c.288G>T (p.Lys96Asn) rs575792064
NM_020631.6(PLEKHG5):c.291G>A (p.Lys97=)
NM_020631.6(PLEKHG5):c.2925G>A (p.Gly975=)
NM_020631.6(PLEKHG5):c.2958C>T (p.Ala986=)
NM_020631.6(PLEKHG5):c.2976G>A (p.Arg992=)
NM_020631.6(PLEKHG5):c.2982C>T (p.Thr994=)
NM_020631.6(PLEKHG5):c.2983C>T (p.Leu995=)
NM_020631.6(PLEKHG5):c.2986C>T (p.Leu996=) rs1249333557
NM_020631.6(PLEKHG5):c.298C>T (p.Leu100=) rs2148592587
NM_020631.6(PLEKHG5):c.2994C>T (p.Asn998=)
NM_020631.6(PLEKHG5):c.3000G>A (p.Thr1000=) rs770466036
NM_020631.6(PLEKHG5):c.3003C>T (p.Leu1001=)
NM_020631.6(PLEKHG5):c.3011+11T>C
NM_020631.6(PLEKHG5):c.3011+12G>A
NM_020631.6(PLEKHG5):c.3011+15C>A
NM_020631.6(PLEKHG5):c.3011+17G>A
NM_020631.6(PLEKHG5):c.3011+19G>A
NM_020631.6(PLEKHG5):c.3012-10C>T
NM_020631.6(PLEKHG5):c.3012-11C>G
NM_020631.6(PLEKHG5):c.3012-15C>G
NM_020631.6(PLEKHG5):c.3012-17C>T
NM_020631.6(PLEKHG5):c.3012-18C>T
NM_020631.6(PLEKHG5):c.3012-7C>T
NM_020631.6(PLEKHG5):c.303-12T>C
NM_020631.6(PLEKHG5):c.303-13G>C
NM_020631.6(PLEKHG5):c.303-16C>T rs2148591484
NM_020631.6(PLEKHG5):c.303-19C>G
NM_020631.6(PLEKHG5):c.303-19C>T
NM_020631.6(PLEKHG5):c.303-4G>A rs746297437
NM_020631.6(PLEKHG5):c.303-7G>C rs1164371404
NM_020631.6(PLEKHG5):c.318T>C (p.Pro106=)
NM_020631.6(PLEKHG5):c.333G>A (p.Lys111=)
NM_020631.6(PLEKHG5):c.342G>A (p.Ala114=)
NM_020631.6(PLEKHG5):c.343C>T (p.Leu115=)
NM_020631.6(PLEKHG5):c.363C>T (p.Tyr121=)
NM_020631.6(PLEKHG5):c.369C>T (p.Asp123=)
NM_020631.6(PLEKHG5):c.36C>A (p.Pro12=) rs2148598115
NM_020631.6(PLEKHG5):c.372G>A (p.Gln124=)
NM_020631.6(PLEKHG5):c.39A>G (p.Pro13=) rs2148598086
NM_020631.6(PLEKHG5):c.417G>A (p.Gly139=)
NM_020631.6(PLEKHG5):c.420A>T (p.Gly140=)
NM_020631.6(PLEKHG5):c.426C>T (p.Tyr142=)
NM_020631.6(PLEKHG5):c.43+12C>T
NM_020631.6(PLEKHG5):c.43+13G>C
NM_020631.6(PLEKHG5):c.43+19C>T
NM_020631.6(PLEKHG5):c.43+20G>A rs200779049
NM_020631.6(PLEKHG5):c.43+7A>G
NM_020631.6(PLEKHG5):c.43+8_43+22del
NM_020631.6(PLEKHG5):c.439+17G>A
NM_020631.6(PLEKHG5):c.439+8G>A
NM_020631.6(PLEKHG5):c.439+9C>G
NM_020631.6(PLEKHG5):c.44-13G>A
NM_020631.6(PLEKHG5):c.44-5C>T
NM_020631.6(PLEKHG5):c.440-17G>A rs200894921
NM_020631.6(PLEKHG5):c.440-17G>C
NM_020631.6(PLEKHG5):c.440-18C>T
NM_020631.6(PLEKHG5):c.440-7_440-6inv
NM_020631.6(PLEKHG5):c.440-9C>T rs772633418
NM_020631.6(PLEKHG5):c.441C>A (p.Ala147=)
NM_020631.6(PLEKHG5):c.441C>T (p.Ala147=)
NM_020631.6(PLEKHG5):c.444A>G (p.Pro148=)
NM_020631.6(PLEKHG5):c.450G>A (p.Lys150=)
NM_020631.6(PLEKHG5):c.456A>G (p.Gly152=)
NM_020631.6(PLEKHG5):c.498C>T (p.Ser166=)
NM_020631.6(PLEKHG5):c.510G>C (p.Pro170=)
NM_020631.6(PLEKHG5):c.525T>G (p.Ala175=)
NM_020631.6(PLEKHG5):c.534G>T (p.Gly178=) rs1569875832
NM_020631.6(PLEKHG5):c.537C>A (p.Pro179=)
NM_020631.6(PLEKHG5):c.540C>A (p.Pro180=)
NM_020631.6(PLEKHG5):c.540C>G (p.Pro180=) rs372624847
NM_020631.6(PLEKHG5):c.540C>T (p.Pro180=) rs372624847
NM_020631.6(PLEKHG5):c.552T>G (p.Arg184=)
NM_020631.6(PLEKHG5):c.573G>A (p.Arg191=)
NM_020631.6(PLEKHG5):c.591+10dup
NM_020631.6(PLEKHG5):c.591+14G>C
NM_020631.6(PLEKHG5):c.591+15G>A
NM_020631.6(PLEKHG5):c.591+4AGG[4]
NM_020631.6(PLEKHG5):c.591+9G>C rs372310391
NM_020631.6(PLEKHG5):c.591+9G>T
NM_020631.6(PLEKHG5):c.592-10C>T
NM_020631.6(PLEKHG5):c.592-13C>G
NM_020631.6(PLEKHG5):c.592-13C>T
NM_020631.6(PLEKHG5):c.592-15C>A
NM_020631.6(PLEKHG5):c.592-20G>A
NM_020631.6(PLEKHG5):c.592-4C>T
NM_020631.6(PLEKHG5):c.592-6G>C
NM_020631.6(PLEKHG5):c.592-8C>A
NM_020631.6(PLEKHG5):c.592-9C>T
NM_020631.6(PLEKHG5):c.594C>G (p.Ala198=) rs1557745612
NM_020631.6(PLEKHG5):c.594C>T (p.Ala198=)
NM_020631.6(PLEKHG5):c.600C>T (p.Gly200=)
NM_020631.6(PLEKHG5):c.627C>T (p.Phe209=)
NM_020631.6(PLEKHG5):c.633G>A (p.Gly211=)
NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
NM_020631.6(PLEKHG5):c.657G>A (p.Glu219=)
NM_020631.6(PLEKHG5):c.663C>A (p.Pro221=)
NM_020631.6(PLEKHG5):c.666G>A (p.Thr222=)
NM_020631.6(PLEKHG5):c.66G>C (p.Val22=)
NM_020631.6(PLEKHG5):c.690C>T (p.Ser230=)
NM_020631.6(PLEKHG5):c.711C>T (p.Asn237=)
NM_020631.6(PLEKHG5):c.717C>T (p.Gly239=)
NM_020631.6(PLEKHG5):c.729G>A (p.Lys243=)
NM_020631.6(PLEKHG5):c.738G>A (p.Ala246=)
NM_020631.6(PLEKHG5):c.78A>G (p.Ser26=)
NM_020631.6(PLEKHG5):c.792C>T (p.Gly264=)
NM_020631.6(PLEKHG5):c.795+16T>A
NM_020631.6(PLEKHG5):c.795+20C>G
NM_020631.6(PLEKHG5):c.795+20C>T
NM_020631.6(PLEKHG5):c.796-12G>C
NM_020631.6(PLEKHG5):c.796-13G>A
NM_020631.6(PLEKHG5):c.796-13G>C rs377254091
NM_020631.6(PLEKHG5):c.796-17C>T
NM_020631.6(PLEKHG5):c.796-20T>C rs1344632009
NM_020631.6(PLEKHG5):c.796-6T>C
NM_020631.6(PLEKHG5):c.796-6T>G
NM_020631.6(PLEKHG5):c.807G>A (p.Lys269=)
NM_020631.6(PLEKHG5):c.819G>A (p.Leu273=) rs771904496
NM_020631.6(PLEKHG5):c.840C>T (p.Tyr280=)
NM_020631.6(PLEKHG5):c.870G>A (p.Arg290=)
NM_020631.6(PLEKHG5):c.873G>C (p.Gly291=)
NM_020631.6(PLEKHG5):c.879C>T (p.Arg293=)
NM_020631.6(PLEKHG5):c.906G>A (p.Glu302=)
NM_020631.6(PLEKHG5):c.90C>T (p.Arg30=)
NM_020631.6(PLEKHG5):c.915A>G (p.Glu305=)
NM_020631.6(PLEKHG5):c.921G>A (p.Glu307=)
NM_020631.6(PLEKHG5):c.927G>A (p.Glu309=)
NM_020631.6(PLEKHG5):c.940C>T (p.Leu314=)
NM_020631.6(PLEKHG5):c.966G>A (p.Glu322=)
NM_020631.6(PLEKHG5):c.984+14A>G
NM_020631.6(PLEKHG5):c.984+14A>T
NM_020631.6(PLEKHG5):c.984+15C>T
NM_020631.6(PLEKHG5):c.984+15_984+16del
NM_020631.6(PLEKHG5):c.984+17G>A
NM_020631.6(PLEKHG5):c.984+8C>A
NM_020631.6(PLEKHG5):c.984+8C>G
NM_020631.6(PLEKHG5):c.985-11C>T
NM_020631.6(PLEKHG5):c.985-18A>T
NM_020631.6(PLEKHG5):c.985-19C>T
NM_020631.6(PLEKHG5):c.985-19del
NM_020631.6(PLEKHG5):c.985-4C>T
NM_020631.6(PLEKHG5):c.985-7C>A
NM_020631.6(PLEKHG5):c.990G>T (p.Leu330=)
NM_020631.6(PLEKHG5):c.993C>T (p.Thr331=)
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020631.6(PLEKHG5):c.99C>A (p.Pro33=)
NM_020631.6(PLEKHG5):c.99C>G (p.Pro33=)

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