ClinVar Miner

List of variants in gene C5 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 361
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HGVS dbSNP gnomAD frequency
NM_001735.3(C5):c.1060C>A (p.Leu354Met) rs34552775 0.00481
NM_001735.3(C5):c.328C>A (p.His110Asn) rs143947726 0.00166
NM_001735.3(C5):c.3356A>G (p.Lys1119Arg) rs142341763 0.00096
NM_001735.3(C5):c.3029C>T (p.Ala1010Val) rs34362143 0.00094
NM_001735.3(C5):c.1418A>G (p.His473Arg) rs78640581 0.00093
NM_001735.3(C5):c.989T>C (p.Ile330Thr) rs147430470 0.00087
NM_001735.3(C5):c.267A>C (p.Pro89=) rs758128814 0.00069
NM_001735.3(C5):c.12G>T (p.Leu4Phe) rs35352264 0.00063
NM_001735.3(C5):c.64A>G (p.Thr22Ala) rs564964646 0.00063
NM_001735.3(C5):c.3230+17G>C rs374404058 0.00060
NM_001735.3(C5):c.2791-12C>T rs200197404 0.00054
NM_001735.3(C5):c.4899C>T (p.Phe1633=) rs149147126 0.00047
NM_001735.3(C5):c.4785C>T (p.Asp1595=) rs79033710 0.00042
NM_001735.3(C5):c.1929C>G (p.Ala643=) rs56371452 0.00029
NM_001735.3(C5):c.2163G>A (p.Gly721=) rs140827796 0.00026
NM_001735.3(C5):c.3641G>A (p.Arg1214Lys) rs150470491 0.00024
NM_001735.3(C5):c.573G>A (p.Pro191=) rs144254021 0.00021
NM_001735.3(C5):c.667+8C>G rs375251377 0.00020
NM_001735.3(C5):c.668-11T>A rs924232762 0.00019
NM_001735.3(C5):c.2017C>A (p.Leu673Ile) rs369245774 0.00018
NM_001735.3(C5):c.4018-18T>A rs762212329 0.00016
NM_001735.3(C5):c.4713A>G (p.Glu1571=) rs141660654 0.00016
NM_001735.3(C5):c.2715T>C (p.Ile905=) rs139794186 0.00014
NM_001735.3(C5):c.2257+19A>C rs369345827 0.00011
NM_001735.3(C5):c.2420C>T (p.Thr807Ile) rs372326645 0.00011
NM_001735.3(C5):c.2654G>A (p.Arg885His) rs56040400 0.00011
NM_001735.3(C5):c.3405T>C (p.Val1135=) rs571587641 0.00011
NM_001735.3(C5):c.423A>G (p.Val141=) rs545714459 0.00011
NM_001735.3(C5):c.4917A>G (p.Leu1639=) rs369355126 0.00011
NM_001735.3(C5):c.2272T>C (p.Leu758=) rs143840189 0.00010
NM_001735.3(C5):c.3732G>A (p.Thr1244=) rs201280694 0.00010
NM_001735.3(C5):c.873+8G>A rs752630692 0.00010
NM_001735.3(C5):c.1116+18G>A rs200863657 0.00009
NM_001735.3(C5):c.3659-6G>A rs201384752 0.00009
NM_001735.3(C5):c.928C>T (p.Leu310=) rs375870111 0.00007
NM_001735.3(C5):c.1941C>G (p.His647Gln) rs202080772 0.00006
NM_001735.3(C5):c.600G>A (p.Thr200=) rs369786622 0.00006
NM_001735.3(C5):c.456G>A (p.Leu152=) rs770873543 0.00005
NM_001735.3(C5):c.1359A>G (p.Arg453=) rs746198140 0.00004
NM_001735.3(C5):c.3282G>A (p.Glu1094=) rs138572644 0.00004
NM_001735.3(C5):c.3463G>A (p.Ala1155Thr) rs200624729 0.00004
NM_001735.3(C5):c.3894G>A (p.Thr1298=) rs145493840 0.00004
NM_001735.3(C5):c.4389A>G (p.Gln1463=) rs746367534 0.00004
NM_001735.3(C5):c.441G>A (p.Ser147=) rs376535022 0.00004
NM_001735.3(C5):c.4470T>C (p.Pro1490=) rs373515982 0.00004
NM_001735.3(C5):c.4488C>T (p.Tyr1496=) rs370935824 0.00004
NM_001735.3(C5):c.1125T>G (p.Val375=) rs778186090 0.00003
NM_001735.3(C5):c.1717-5T>C rs779247145 0.00003
NM_001735.3(C5):c.1947T>C (p.Ala649=) rs768999689 0.00003
NM_001735.3(C5):c.3231-4A>G rs777774046 0.00003
NM_001735.3(C5):c.3480C>G (p.Pro1160=) rs756416803 0.00003
NM_001735.3(C5):c.435T>A (p.Val145=) rs760334587 0.00003
NM_001735.3(C5):c.4505-7G>A rs202069815 0.00003
NM_001735.3(C5):c.1716+7C>G rs764673418 0.00002
NM_001735.3(C5):c.1866+20G>A rs200492484 0.00002
NM_001735.3(C5):c.1997-12T>A rs777160561 0.00002
NM_001735.3(C5):c.2707C>T (p.Leu903=) rs775664972 0.00002
NM_001735.3(C5):c.3030G>A (p.Ala1010=) rs751260919 0.00002
NM_001735.3(C5):c.354A>T (p.Pro118=) rs754076683 0.00002
NM_001735.3(C5):c.4162+20C>T rs56094365 0.00002
NM_001735.3(C5):c.4220+9A>G rs749916623 0.00002
NM_001735.3(C5):c.4398+13T>G rs1426471331 0.00002
NM_001735.3(C5):c.4762+19A>T rs1213709001 0.00002
NM_001735.3(C5):c.758+13del rs752204116 0.00002
NM_001735.3(C5):c.1303-12T>C rs1239062632 0.00001
NM_001735.3(C5):c.1506+7A>T rs776475072 0.00001
NM_001735.3(C5):c.1704C>T (p.Gly568=) rs758651657 0.00001
NM_001735.3(C5):c.1800G>A (p.Val600=) rs576539063 0.00001
NM_001735.3(C5):c.1866+12C>A rs113503759 0.00001
NM_001735.3(C5):c.2037G>A (p.Leu679=) rs2047296479 0.00001
NM_001735.3(C5):c.2059+10G>A rs371850097 0.00001
NM_001735.3(C5):c.2112C>T (p.Cys704=) rs756850474 0.00001
NM_001735.3(C5):c.2211G>A (p.Gln737=) rs146630697 0.00001
NM_001735.3(C5):c.2244A>G (p.Gln748=) rs569346643 0.00001
NM_001735.3(C5):c.2259C>T (p.His753=) rs1323840652 0.00001
NM_001735.3(C5):c.258+16T>C rs754731723 0.00001
NM_001735.3(C5):c.2613A>G (p.Pro871=) rs2047128847 0.00001
NM_001735.3(C5):c.2643C>T (p.Ser881=) rs1268236060 0.00001
NM_001735.3(C5):c.2942-16A>T rs1026823552 0.00001
NM_001735.3(C5):c.3177C>T (p.Tyr1059=) rs201586724 0.00001
NM_001735.3(C5):c.3222T>A (p.Ala1074=) rs774244761 0.00001
NM_001735.3(C5):c.3276C>T (p.Tyr1092=) rs1554720417 0.00001
NM_001735.3(C5):c.3487-15T>C rs145339763 0.00001
NM_001735.3(C5):c.4080+9T>G rs750843608 0.00001
NM_001735.3(C5):c.4135T>C (p.Leu1379=) rs774066003 0.00001
NM_001735.3(C5):c.4163-10T>C rs1331264413 0.00001
NM_001735.3(C5):c.4236G>A (p.Arg1412=) rs768970432 0.00001
NM_001735.3(C5):c.4315T>C (p.Leu1439=) rs375112382 0.00001
NM_001735.3(C5):c.4323+10T>C rs2046844125 0.00001
NM_001735.3(C5):c.4323+9T>A rs187867837 0.00001
NM_001735.3(C5):c.4324-7C>T rs574469025 0.00001
NM_001735.3(C5):c.4515T>C (p.Cys1505=) rs376452901 0.00001
NM_001735.3(C5):c.4554A>G (p.Lys1518=) rs745670770 0.00001
NM_001735.3(C5):c.4569C>T (p.Ala1523=) rs778838090 0.00001
NM_001735.3(C5):c.4707T>G (p.Thr1569=) rs768542181 0.00001
NM_001735.3(C5):c.651T>C (p.Phe217=) rs776642102 0.00001
NM_001735.3(C5):c.669C>G (p.Val223=) rs1372775069 0.00001
NM_001735.3(C5):c.792C>T (p.Asp264=) rs751759129 0.00001
NM_001735.3(C5):c.975T>A (p.Ile325=) rs370834994 0.00001
NM_001735.3(C5):c.1000+10_1000+11insTC
NM_001735.3(C5):c.1000+8_1000+9insGTGTCT
NM_001735.3(C5):c.1001-17G>A rs1274865562
NM_001735.3(C5):c.1001-4T>A rs2131778887
NM_001735.3(C5):c.1116+17G>A
NM_001735.3(C5):c.1117-12T>G
NM_001735.3(C5):c.1117-19G>A
NM_001735.3(C5):c.1117-6A>C
NM_001735.3(C5):c.1134G>A (p.Ser378=)
NM_001735.3(C5):c.1134G>T (p.Ser378=) rs148479499
NM_001735.3(C5):c.1140C>T (p.Asp380=) rs2047366898
NM_001735.3(C5):c.1176A>G (p.Ala392=)
NM_001735.3(C5):c.1194C>T (p.Asn398=)
NM_001735.3(C5):c.1203A>T (p.Thr401=) rs1265707128
NM_001735.3(C5):c.1227T>C (p.Ser409=)
NM_001735.3(C5):c.1286C>A (p.Thr429Lys) rs145461325
NM_001735.3(C5):c.1287G>C (p.Thr429=) rs145139701
NM_001735.3(C5):c.1293G>C (p.Leu431=)
NM_001735.3(C5):c.1302+15_1302+17del rs2047364570
NM_001735.3(C5):c.1303-18T>G
NM_001735.3(C5):c.1303-20T>C
NM_001735.3(C5):c.1303-8C>G
NM_001735.3(C5):c.1305C>A (p.Val435=)
NM_001735.3(C5):c.1323T>C (p.Asp441=) rs1564154714
NM_001735.3(C5):c.1329A>G (p.Pro443=)
NM_001735.3(C5):c.1347G>A (p.Arg449=)
NM_001735.3(C5):c.1374A>C (p.Ser458=)
NM_001735.3(C5):c.1473A>G (p.Pro491=)
NM_001735.3(C5):c.1494C>T (p.His498=)
NM_001735.3(C5):c.1507-16T>C
NM_001735.3(C5):c.1542G>A (p.Thr514=)
NM_001735.3(C5):c.1581C>T (p.Asn527=)
NM_001735.3(C5):c.15A>G (p.Gly5=)
NM_001735.3(C5):c.1611A>T (p.Ser537=)
NM_001735.3(C5):c.1635C>T (p.Ile545=) rs1187883385
NM_001735.3(C5):c.1659A>G (p.Glu553=)
NM_001735.3(C5):c.1662A>G (p.Leu554=)
NM_001735.3(C5):c.1713C>A (p.Leu571=)
NM_001735.3(C5):c.1716+19G>C
NM_001735.3(C5):c.1740T>C (p.Asp580=)
NM_001735.3(C5):c.1746T>C (p.Tyr582=) rs2131761358
NM_001735.3(C5):c.1755C>T (p.Gly585=)
NM_001735.3(C5):c.1767T>C (p.Ser589=)
NM_001735.3(C5):c.1866+10T>C
NM_001735.3(C5):c.1866+16T>C
NM_001735.3(C5):c.1869A>G (p.Val623=)
NM_001735.3(C5):c.1875A>G (p.Gln625=)
NM_001735.3(C5):c.1887G>A (p.Lys629=)
NM_001735.3(C5):c.192T>C (p.Phe64=)
NM_001735.3(C5):c.1996+13G>A
NM_001735.3(C5):c.1997-11A>T
NM_001735.3(C5):c.1997-19C>T
NM_001735.3(C5):c.1997-4C>A
NM_001735.3(C5):c.1997-8A>C
NM_001735.3(C5):c.2034G>A (p.Thr678=)
NM_001735.3(C5):c.2046G>A (p.Lys682=)
NM_001735.3(C5):c.2059+14C>A rs1012542321
NM_001735.3(C5):c.2059+15A>T
NM_001735.3(C5):c.2100C>T (p.Tyr700=)
NM_001735.3(C5):c.2103T>C (p.Asp701=)
NM_001735.3(C5):c.2202C>T (p.Val734=)
NM_001735.3(C5):c.2223T>C (p.Asn741=)
NM_001735.3(C5):c.222C>T (p.Ser74=)
NM_001735.3(C5):c.2254C>T (p.Leu752=)
NM_001735.3(C5):c.2257+19A>G
NM_001735.3(C5):c.225A>G (p.Ser75=)
NM_001735.3(C5):c.2271G>C (p.Leu757=)
NM_001735.3(C5):c.2320T>C (p.Leu774=)
NM_001735.3(C5):c.2348+10T>C
NM_001735.3(C5):c.2348+20T>C
NM_001735.3(C5):c.2403C>T (p.Gly801=)
NM_001735.3(C5):c.2418C>T (p.Asn806=)
NM_001735.3(C5):c.2422+15G>T
NM_001735.3(C5):c.2422+19T>C
NM_001735.3(C5):c.2422+7A>G
NM_001735.3(C5):c.2423-4G>A
NM_001735.3(C5):c.243C>T (p.Asn81=)
NM_001735.3(C5):c.2445C>G (p.Val815=) rs376229247
NM_001735.3(C5):c.2484T>C (p.Asn828=)
NM_001735.3(C5):c.2544T>C (p.Tyr848=)
NM_001735.3(C5):c.2562+19T>G
NM_001735.3(C5):c.2563-15_2563-14delinsAT rs2131724100
NM_001735.3(C5):c.2563-2271G>T
NM_001735.3(C5):c.2563-7A>G rs766433757
NM_001735.3(C5):c.2563-9G>A
NM_001735.3(C5):c.2563-9G>T
NM_001735.3(C5):c.258+13C>T
NM_001735.3(C5):c.2604G>A (p.Ser868=)
NM_001735.3(C5):c.2691A>G (p.Thr897=)
NM_001735.3(C5):c.270A>G (p.Lys90=)
NM_001735.3(C5):c.273A>G (p.Gln91=)
NM_001735.3(C5):c.2769A>G (p.Leu923=)
NM_001735.3(C5):c.2790+14G>C
NM_001735.3(C5):c.2791-11C>G
NM_001735.3(C5):c.2791-9T>C
NM_001735.3(C5):c.2817T>C (p.Tyr939=)
NM_001735.3(C5):c.2852-18A>C
NM_001735.3(C5):c.2865A>G (p.Arg955=)
NM_001735.3(C5):c.2907C>T (p.Pro969=)
NM_001735.3(C5):c.2925G>A (p.Arg975=)
NM_001735.3(C5):c.2941+13del
NM_001735.3(C5):c.2941+16C>T
NM_001735.3(C5):c.2941+17C>T
NM_001735.3(C5):c.2942-18T>A
NM_001735.3(C5):c.2973T>C (p.Val991=)
NM_001735.3(C5):c.3009C>T (p.Leu1003=)
NM_001735.3(C5):c.300T>A (p.Ser100=) rs2131818502
NM_001735.3(C5):c.300T>C (p.Ser100=) rs2131818502
NM_001735.3(C5):c.3012C>T (p.Pro1004=)
NM_001735.3(C5):c.3036G>T (p.Leu1012=)
NM_001735.3(C5):c.3054A>G (p.Val1018=)
NM_001735.3(C5):c.3090T>C (p.His1030=)
NM_001735.3(C5):c.3133C>T (p.Leu1045=)
NM_001735.3(C5):c.3154+20C>A rs2131710685
NM_001735.3(C5):c.3155-13T>C rs2047056649
NM_001735.3(C5):c.3156G>T (p.Gly1052=)
NM_001735.3(C5):c.318T>C (p.Val106=)
NM_001735.3(C5):c.3201T>C (p.Ser1067=)
NM_001735.3(C5):c.3204G>A (p.Val1068=)
NM_001735.3(C5):c.321A>G (p.Val107=)
NM_001735.3(C5):c.3230+10_3230+12del rs770676190
NM_001735.3(C5):c.3231-17T>C
NM_001735.3(C5):c.3231-4A>C rs777774046
NM_001735.3(C5):c.3237A>G (p.Thr1079=)
NM_001735.3(C5):c.3267A>G (p.Val1089=)
NM_001735.3(C5):c.3315G>A (p.Leu1105=)
NM_001735.3(C5):c.3327G>A (p.Glu1109=) rs1229314369
NM_001735.3(C5):c.3390+15T>G
NM_001735.3(C5):c.3390+16G>A
NM_001735.3(C5):c.3391-10T>C
NM_001735.3(C5):c.3396C>T (p.Thr1132=) rs2131697785
NM_001735.3(C5):c.3420C>T (p.Asn1140=)
NM_001735.3(C5):c.3426A>G (p.Leu1142=)
NM_001735.3(C5):c.3462G>A (p.Lys1154=)
NM_001735.3(C5):c.3468C>T (p.Phe1156=)
NM_001735.3(C5):c.3481C>T (p.Leu1161=)
NM_001735.3(C5):c.3486+6dup
NM_001735.3(C5):c.3487-7T>C rs2131695685
NM_001735.3(C5):c.3487-8G>T
NM_001735.3(C5):c.3525G>T (p.Leu1175=)
NM_001735.3(C5):c.3562T>C (p.Leu1188=)
NM_001735.3(C5):c.3624T>C (p.Ile1208=)
NM_001735.3(C5):c.3642A>G (p.Arg1214=)
NM_001735.3(C5):c.3658+15A>G
NM_001735.3(C5):c.3658+17A>G
NM_001735.3(C5):c.3658+19A>G
NM_001735.3(C5):c.3658+8T>C rs2046980465
NM_001735.3(C5):c.3658+8T>G
NM_001735.3(C5):c.3659-12G>T rs2046958066
NM_001735.3(C5):c.3659-19G>C
NM_001735.3(C5):c.3669C>A (p.Pro1223=)
NM_001735.3(C5):c.36C>T (p.Phe12=)
NM_001735.3(C5):c.3702T>C (p.His1234=)
NM_001735.3(C5):c.3723C>T (p.Asn1241=)
NM_001735.3(C5):c.3756C>T (p.Ala1252=)
NM_001735.3(C5):c.3804C>T (p.Asn1268=)
NM_001735.3(C5):c.3807A>G (p.Pro1269=)
NM_001735.3(C5):c.3864+8T>A
NM_001735.3(C5):c.3867C>T (p.Asp1289=)
NM_001735.3(C5):c.3903A>G (p.Ser1301=)
NM_001735.3(C5):c.3939C>T (p.Ile1313=)
NM_001735.3(C5):c.3951C>T (p.Tyr1317=)
NM_001735.3(C5):c.3977A>G (p.Tyr1326Cys)
NM_001735.3(C5):c.4017+7G>T
NM_001735.3(C5):c.4017+8A>C
NM_001735.3(C5):c.4018-13A>G
NM_001735.3(C5):c.4041T>C (p.Ile1347=)
NM_001735.3(C5):c.4044C>T (p.Val1348=)
NM_001735.3(C5):c.4047T>C (p.Ser1349=)
NM_001735.3(C5):c.4068G>A (p.Leu1356=)
NM_001735.3(C5):c.4080+13T>C
NM_001735.3(C5):c.4080+14T>A
NM_001735.3(C5):c.4083A>G (p.Val1361=)
NM_001735.3(C5):c.4110C>A (p.Thr1370=)
NM_001735.3(C5):c.4143C>T (p.Ile1381=) rs150804933
NM_001735.3(C5):c.4162+10G>A
NM_001735.3(C5):c.4162+18del rs904845395
NM_001735.3(C5):c.4162+8C>T
NM_001735.3(C5):c.4163-14_4163-10del
NM_001735.3(C5):c.4174A>C (p.Arg1392=) rs1417833442
NM_001735.3(C5):c.422-20T>C
NM_001735.3(C5):c.4220+7C>T
NM_001735.3(C5):c.4221-17C>T
NM_001735.3(C5):c.4221-19A>C
NM_001735.3(C5):c.4281C>T (p.Ser1427=) rs2131671343
NM_001735.3(C5):c.4282T>C (p.Leu1428=)
NM_001735.3(C5):c.4323+16T>C
NM_001735.3(C5):c.4323+7_4323+8del
NM_001735.3(C5):c.4324-10T>C
NM_001735.3(C5):c.4324-14C>G
NM_001735.3(C5):c.4324-14C>T
NM_001735.3(C5):c.4324-16del
NM_001735.3(C5):c.4324-18CT[2]
NM_001735.3(C5):c.4324-8C>G
NM_001735.3(C5):c.4365C>T (p.Ile1455=)
NM_001735.3(C5):c.4398G>A (p.Ser1466=)
NM_001735.3(C5):c.4452A>G (p.Glu1484=)
NM_001735.3(C5):c.4504+11C>G
NM_001735.3(C5):c.4504+14T>C
NM_001735.3(C5):c.4505-12T>C
NM_001735.3(C5):c.4505-15C>A
NM_001735.3(C5):c.4505-18A>C
NM_001735.3(C5):c.4524T>C (p.Phe1508=)
NM_001735.3(C5):c.4572G>A (p.Ala1524=)
NM_001735.3(C5):c.4589-18A>G
NM_001735.3(C5):c.4589-19C>G
NM_001735.3(C5):c.4602A>G (p.Gln1534=)
NM_001735.3(C5):c.4615T>C (p.Leu1539=)
NM_001735.3(C5):c.4641A>T (p.Thr1547=)
NM_001735.3(C5):c.4656A>G (p.Ala1552=)
NM_001735.3(C5):c.4656A>T (p.Ala1552=)
NM_001735.3(C5):c.4678+13G>A rs2131666309
NM_001735.3(C5):c.4678+13G>C
NM_001735.3(C5):c.4678+17A>G
NM_001735.3(C5):c.4678+20A>G
NM_001735.3(C5):c.4679-20T>G
NM_001735.3(C5):c.4710A>G (p.Val1570=)
NM_001735.3(C5):c.4762+15G>A
NM_001735.3(C5):c.4762+19_4762+26del
NM_001735.3(C5):c.4762+20T>C rs757661535
NM_001735.3(C5):c.4763-11A>G
NM_001735.3(C5):c.4763-12C>T
NM_001735.3(C5):c.4763-13G>A
NM_001735.3(C5):c.4763-13G>C
NM_001735.3(C5):c.4824C>T (p.Asn1608=)
NM_001735.3(C5):c.4830G>A (p.Glu1610=) rs2131658684
NM_001735.3(C5):c.4872C>T (p.Ala1624=)
NM_001735.3(C5):c.4890T>C (p.Asn1630=)
NM_001735.3(C5):c.4901+13T>C
NM_001735.3(C5):c.4901+19T>G
NM_001735.3(C5):c.4901+20C>T
NM_001735.3(C5):c.4901+7C>A
NM_001735.3(C5):c.4902-12G>A
NM_001735.3(C5):c.4914T>C (p.Pro1638=)
NM_001735.3(C5):c.493-18G>A
NM_001735.3(C5):c.493-20G>C rs893526762
NM_001735.3(C5):c.493-20G>T rs893526762
NM_001735.3(C5):c.504A>T (p.Gly168=)
NM_001735.3(C5):c.558T>A (p.Pro186=)
NM_001735.3(C5):c.584+15T>C
NM_001735.3(C5):c.584+18T>C rs773328492
NM_001735.3(C5):c.585-10G>C
NM_001735.3(C5):c.642C>T (p.Thr214=)
NM_001735.3(C5):c.65+17A>G rs2131830229
NM_001735.3(C5):c.65+18T>G
NM_001735.3(C5):c.66-18C>A
NM_001735.3(C5):c.66-19T>C rs2131823201
NM_001735.3(C5):c.667+14del rs751449611
NM_001735.3(C5):c.668-14_668-9del
NM_001735.3(C5):c.693C>T (p.Ile231=)
NM_001735.3(C5):c.69T>C (p.Tyr23=) rs752415627
NM_001735.3(C5):c.758+10T>C
NM_001735.3(C5):c.759-15G>T
NM_001735.3(C5):c.759-15_759-12del
NM_001735.3(C5):c.759-16T>C
NM_001735.3(C5):c.786G>A (p.Glu262=)
NM_001735.3(C5):c.804A>G (p.Thr268=)
NM_001735.3(C5):c.873+17C>T rs2131788692
NM_001735.3(C5):c.873+18A>G
NM_001735.3(C5):c.874-12C>A
NM_001735.3(C5):c.874-14C>T
NM_001735.3(C5):c.945A>G (p.Leu315=)

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