ClinVar Miner

List of variants studied for mucopolysaccharidosis type 3D by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 657
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_002076.4(GNS):c.1650T>C (p.His550=) rs2230292 0.03419
NM_002076.4(GNS):c.459+14T>C rs78614637 0.01673
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00879
NM_002076.4(GNS):c.792+16A>G rs148924072 0.00415
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00329
NM_002076.4(GNS):c.1113C>T (p.Asn371=) rs116798538 0.00279
NM_002076.4(GNS):c.1453C>G (p.Pro485Ala) rs138790252 0.00072
NM_002076.4(GNS):c.117G>T (p.Gly39=) rs371407400 0.00043
NM_002076.4(GNS):c.876-3C>T rs73323465 0.00043
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_002076.4(GNS):c.468C>T (p.Ala156=) rs147780685 0.00028
NM_002076.4(GNS):c.1434C>G (p.Val478=) rs141958901 0.00026
NM_002076.4(GNS):c.5G>C (p.Arg2Pro) rs759075764 0.00016
NM_002076.4(GNS):c.1420-11A>G rs192263369 0.00013
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00012
NM_002076.4(GNS):c.49C>T (p.Arg17Cys) rs574024349 0.00011
NM_002076.4(GNS):c.876-13T>C rs543570530 0.00011
NM_002076.4(GNS):c.1120T>A (p.Leu374Met) rs141908538 0.00009
NM_002076.4(GNS):c.624+10A>G rs757526895 0.00009
NM_002076.4(GNS):c.143A>G (p.Asn48Ser) rs370011049 0.00008
NM_002076.4(GNS):c.1583A>G (p.Tyr528Cys) rs138355639 0.00008
NM_002076.4(GNS):c.193-9C>T rs372633889 0.00008
NM_002076.4(GNS):c.223G>A (p.Gly75Arg) rs371990029 0.00008
NM_002076.4(GNS):c.462C>T (p.Tyr154=) rs139536679 0.00008
NM_002076.4(GNS):c.539A>G (p.Lys180Arg) rs745307029 0.00007
NM_002076.4(GNS):c.30G>A (p.Arg10=) rs753033310 0.00006
NM_002076.4(GNS):c.145G>C (p.Val49Leu) rs761375977 0.00005
NM_002076.4(GNS):c.156C>T (p.Leu52=) rs951936514 0.00005
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala) rs202228620 0.00005
NM_002076.4(GNS):c.525+14G>A rs774916170 0.00005
NM_002076.4(GNS):c.791C>T (p.Thr264Met) rs575544204 0.00005
NM_002076.4(GNS):c.896T>C (p.Val299Ala) rs752339367 0.00005
NM_002076.4(GNS):c.1309-12A>G rs376318831 0.00004
NM_002076.4(GNS):c.1419+20G>A rs185701650 0.00004
NM_002076.4(GNS):c.311C>T (p.Pro104Leu) rs1236473511 0.00004
NM_002076.4(GNS):c.325G>A (p.Val109Ile) rs777717534 0.00004
NM_002076.4(GNS):c.415A>G (p.Met139Val) rs142588770 0.00004
NM_002076.4(GNS):c.42C>T (p.Gly14=) rs925458413 0.00004
NM_002076.4(GNS):c.688G>A (p.Ala230Thr) rs140270805 0.00004
NM_002076.4(GNS):c.73G>A (p.Ala25Thr) rs540537083 0.00004
NM_002076.4(GNS):c.875+16A>G rs375692142 0.00004
NM_002076.4(GNS):c.886C>G (p.Leu296Val) rs755801592 0.00004
NM_002076.4(GNS):c.961A>G (p.Ile321Val) rs771918136 0.00004
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys) rs888774422 0.00004
NM_002076.4(GNS):c.1140C>T (p.Asp380=) rs749616788 0.00003
NM_002076.4(GNS):c.1153G>A (p.Asp385Asn) rs138335335 0.00003
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu) rs755021062 0.00003
NM_002076.4(GNS):c.1201-9T>C rs775176361 0.00003
NM_002076.4(GNS):c.1308+2T>C rs750645480 0.00003
NM_002076.4(GNS):c.1401C>T (p.Cys467=) rs762724498 0.00003
NM_002076.4(GNS):c.1420-13T>C rs757779410 0.00003
NM_002076.4(GNS):c.1621A>G (p.Ser541Gly) rs745781388 0.00003
NM_002076.4(GNS):c.676T>G (p.Phe226Val) rs1283873163 0.00003
NM_002076.4(GNS):c.708G>A (p.Ser236=) rs775884527 0.00003
NM_002076.4(GNS):c.792+12C>T rs749901174 0.00003
NM_002076.4(GNS):c.793-9A>G rs780164582 0.00003
NM_002076.4(GNS):c.875+11C>G rs766618304 0.00003
NM_002076.4(GNS):c.1189T>C (p.Leu397=) rs773031063 0.00002
NM_002076.4(GNS):c.1200+7A>G rs776624874 0.00002
NM_002076.4(GNS):c.1317C>T (p.Phe439=) rs780470761 0.00002
NM_002076.4(GNS):c.1420-16C>T rs765979939 0.00002
NM_002076.4(GNS):c.1420-9G>A rs980133508 0.00002
NM_002076.4(GNS):c.148G>A (p.Val50Met) rs776163695 0.00002
NM_002076.4(GNS):c.1506G>A (p.Lys502=) rs748361347 0.00002
NM_002076.4(GNS):c.1556G>A (p.Arg519His) rs187312042 0.00002
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser) rs771940326 0.00002
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198 0.00002
NM_002076.4(GNS):c.463G>A (p.Gly155Arg) rs1402191110 0.00002
NM_002076.4(GNS):c.526-7T>C rs1179720847 0.00002
NM_002076.4(GNS):c.552C>T (p.Tyr184=) rs375799237 0.00002
NM_002076.4(GNS):c.578G>A (p.Arg193Gln) rs368261202 0.00002
NM_002076.4(GNS):c.625-11T>G rs1424622323 0.00002
NM_002076.4(GNS):c.687C>T (p.Ile229=) rs767396748 0.00002
NM_002076.4(GNS):c.82C>T (p.Leu28=) rs1221691641 0.00002
NM_002076.4(GNS):c.850T>C (p.Phe284Leu) rs978501400 0.00002
NM_002076.4(GNS):c.895G>A (p.Val299Ile) rs1327778268 0.00002
NM_002076.4(GNS):c.995-15G>A rs200521875 0.00002
NM_002076.4(GNS):c.9C>T (p.Leu3=) rs1479493439 0.00002
NM_002076.4(GNS):c.1008G>C (p.Leu336Phe) rs774066835 0.00001
NM_002076.4(GNS):c.1021_1022insTCTT (p.Arg341fs) rs1470760407 0.00001
NM_002076.4(GNS):c.1029G>A (p.Leu343=) rs371914257 0.00001
NM_002076.4(GNS):c.1048G>A (p.Val350Ile) rs769308458 0.00001
NM_002076.4(GNS):c.105G>A (p.Leu35=) rs751358599 0.00001
NM_002076.4(GNS):c.1070C>T (p.Pro357Leu) rs1869576092 0.00001
NM_002076.4(GNS):c.1071T>C (p.Pro357=) rs779476775 0.00001
NM_002076.4(GNS):c.1089G>A (p.Gln363=) rs369866661 0.00001
NM_002076.4(GNS):c.1098+17C>G rs1399700060 0.00001
NM_002076.4(GNS):c.1099-5C>T rs1277798355 0.00001
NM_002076.4(GNS):c.1104G>T (p.Leu368=) rs766168524 0.00001
NM_002076.4(GNS):c.1110C>G (p.Ala370=) rs1217090569 0.00001
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser) rs756633427 0.00001
NM_002076.4(GNS):c.1152C>T (p.Tyr384=) rs753238075 0.00001
NM_002076.4(GNS):c.1160A>G (p.Asn387Ser) rs770725025 0.00001
NM_002076.4(GNS):c.1164G>A (p.Lys388=) rs1263703439 0.00001
NM_002076.4(GNS):c.1197T>C (p.Ile399=) rs1454694759 0.00001
NM_002076.4(GNS):c.1200+12G>A rs771806213 0.00001
NM_002076.4(GNS):c.1200+8T>G rs768052687 0.00001
NM_002076.4(GNS):c.1201-7T>C rs771699876 0.00001
NM_002076.4(GNS):c.1204G>A (p.Gly402Ser) rs1364524364 0.00001
NM_002076.4(GNS):c.1227A>T (p.Arg409=) rs1417176156 0.00001
NM_002076.4(GNS):c.1229C>T (p.Ser410Leu) rs1206806524 0.00001
NM_002076.4(GNS):c.1232A>C (p.Asp411Ala) rs1486098293 0.00001
NM_002076.4(GNS):c.1251A>G (p.Gln417=) rs1324161117 0.00001
NM_002076.4(GNS):c.1262G>A (p.Arg421His) rs774084161 0.00001
NM_002076.4(GNS):c.1266C>T (p.Asn422=) rs770070081 0.00001
NM_002076.4(GNS):c.1267G>A (p.Val423Ile) rs748498913 0.00001
NM_002076.4(GNS):c.12G>A (p.Leu4=) rs1252707980 0.00001
NM_002076.4(GNS):c.1302C>A (p.Gly434=) rs747491925 0.00001
NM_002076.4(GNS):c.1302C>T (p.Gly434=) rs747491925 0.00001
NM_002076.4(GNS):c.1308+15del rs1869080092 0.00001
NM_002076.4(GNS):c.1308+9T>C rs1365824780 0.00001
NM_002076.4(GNS):c.1309-15del rs1345709163 0.00001
NM_002076.4(GNS):c.1309-20C>T rs963356574 0.00001
NM_002076.4(GNS):c.1321G>A (p.Asp441Asn) rs1345511245 0.00001
NM_002076.4(GNS):c.1329A>G (p.Val443=) rs745896040 0.00001
NM_002076.4(GNS):c.1343A>G (p.Tyr448Cys) rs757534763 0.00001
NM_002076.4(GNS):c.1368G>A (p.Arg456=) rs201966474 0.00001
NM_002076.4(GNS):c.1377A>G (p.Ser459=) rs1454713140 0.00001
NM_002076.4(GNS):c.1380A>G (p.Ala460=) rs1565880693 0.00001
NM_002076.4(GNS):c.1381T>C (p.Leu461=) rs765783864 0.00001
NM_002076.4(GNS):c.138G>T (p.Arg46Ser) rs750354638 0.00001
NM_002076.4(GNS):c.140C>T (p.Pro47Leu) rs964775472 0.00001
NM_002076.4(GNS):c.1419+14C>T rs1165944406 0.00001
NM_002076.4(GNS):c.1419+8G>A rs760970543 0.00001
NM_002076.4(GNS):c.1420-7C>T rs764819766 0.00001
NM_002076.4(GNS):c.1424T>C (p.Phe475Ser) rs1868981080 0.00001
NM_002076.4(GNS):c.1433T>G (p.Val478Gly) rs1411480640 0.00001
NM_002076.4(GNS):c.1452C>T (p.Asp484=) rs1252524521 0.00001
NM_002076.4(GNS):c.147G>A (p.Val49=) rs1200285811 0.00001
NM_002076.4(GNS):c.150G>A (p.Val50=) rs1260892915 0.00001
NM_002076.4(GNS):c.1512C>T (p.Asn504=) rs781191329 0.00001
NM_002076.4(GNS):c.1516C>T (p.Arg506Trp) rs768332556 0.00001
NM_002076.4(GNS):c.1555C>T (p.Arg519Cys) rs904788730 0.00001
NM_002076.4(GNS):c.1578C>T (p.Pro526=) rs753472052 0.00001
NM_002076.4(GNS):c.1580+12T>G rs1197721450 0.00001
NM_002076.4(GNS):c.1581-20A>G rs763486351 0.00001
NM_002076.4(GNS):c.1597C>T (p.Arg533Cys) rs1430079019 0.00001
NM_002076.4(GNS):c.1603A>G (p.Met535Val) rs1320846022 0.00001
NM_002076.4(GNS):c.1609A>G (p.Ser537Gly) rs776925981 0.00001
NM_002076.4(GNS):c.160A>G (p.Thr54Ala) rs768291103 0.00001
NM_002076.4(GNS):c.1616G>A (p.Arg539His) rs766615352 0.00001
NM_002076.4(GNS):c.1627A>G (p.Arg543Gly) rs763232728 0.00001
NM_002076.4(GNS):c.1629G>A (p.Arg543=) rs778448292 0.00001
NM_002076.4(GNS):c.1633C>T (p.Arg545Ter) rs941776434 0.00001
NM_002076.4(GNS):c.1634G>A (p.Arg545Gln) rs756752200 0.00001
NM_002076.4(GNS):c.1654C>T (p.Leu552=) rs751913045 0.00001
NM_002076.4(GNS):c.1658A>G (p.Ter553Trp) rs766745346 0.00001
NM_002076.4(GNS):c.16C>T (p.Leu6=) rs746189087 0.00001
NM_002076.4(GNS):c.174C>T (p.Asp58=) rs774743674 0.00001
NM_002076.4(GNS):c.192+15T>A rs1037358210 0.00001
NM_002076.4(GNS):c.215C>G (p.Ala72Gly) rs780411862 0.00001
NM_002076.4(GNS):c.222C>A (p.Ile74=) rs1375026446 0.00001
NM_002076.4(GNS):c.255T>C (p.Tyr85=) rs765701552 0.00001
NM_002076.4(GNS):c.264T>C (p.Ser88=) rs1869945578 0.00001
NM_002076.4(GNS):c.282C>T (p.Ser94=) rs1318657728 0.00001
NM_002076.4(GNS):c.306G>A (p.Lys102=) rs746164753 0.00001
NM_002076.4(GNS):c.322C>T (p.His108Tyr) rs770771257 0.00001
NM_002076.4(GNS):c.324C>T (p.His108=) rs748968142 0.00001
NM_002076.4(GNS):c.351C>T (p.Asn117=) rs748055773 0.00001
NM_002076.4(GNS):c.355del (p.Ser119fs) rs749187018 0.00001
NM_002076.4(GNS):c.359G>A (p.Ser120Asn) rs1169948900 0.00001
NM_002076.4(GNS):c.361A>G (p.Lys121Glu) rs113295621 0.00001
NM_002076.4(GNS):c.381A>G (p.Gln127=) rs374002057 0.00001
NM_002076.4(GNS):c.389A>G (p.Asn130Ser) rs764724434 0.00001
NM_002076.4(GNS):c.400G>A (p.Ala134Thr) rs1869939685 0.00001
NM_002076.4(GNS):c.459+8G>A rs199789530 0.00001
NM_002076.4(GNS):c.45C>T (p.Ser15=) rs749771186 0.00001
NM_002076.4(GNS):c.492C>T (p.His164=) rs773419903 0.00001
NM_002076.4(GNS):c.528A>G (p.Glu176=) rs771492549 0.00001
NM_002076.4(GNS):c.531G>T (p.Lys177Asn) rs1435047831 0.00001
NM_002076.4(GNS):c.554C>A (p.Thr185Asn) rs1450865004 0.00001
NM_002076.4(GNS):c.558G>A (p.Leu186=) rs200414276 0.00001
NM_002076.4(GNS):c.57G>A (p.Leu19=) rs1332308897 0.00001
NM_002076.4(GNS):c.605A>G (p.Asp202Gly) rs1439386150 0.00001
NM_002076.4(GNS):c.624+16T>G rs1246594417 0.00001
NM_002076.4(GNS):c.624+20T>A rs571391837 0.00001
NM_002076.4(GNS):c.624+7T>G rs1869849151 0.00001
NM_002076.4(GNS):c.625-17A>G rs950921191 0.00001
NM_002076.4(GNS):c.633C>G (p.Val211=) rs367799685 0.00001
NM_002076.4(GNS):c.653A>G (p.Tyr218Cys) rs777980972 0.00001
NM_002076.4(GNS):c.682A>G (p.Met228Val) rs1338194520 0.00001
NM_002076.4(GNS):c.694C>T (p.Pro232Ser) rs1325037353 0.00001
NM_002076.4(GNS):c.698C>T (p.Ala233Val) rs766044815 0.00001
NM_002076.4(GNS):c.699G>A (p.Ala233=) rs762468558 0.00001
NM_002076.4(GNS):c.723A>G (p.Ala241=) rs770999308 0.00001
NM_002076.4(GNS):c.739G>A (p.Ala247Thr) rs374471832 0.00001
NM_002076.4(GNS):c.76C>G (p.Leu26Val) rs1000939393 0.00001
NM_002076.4(GNS):c.770A>C (p.Lys257Thr) rs1171491284 0.00001
NM_002076.4(GNS):c.792+12C>G rs749901174 0.00001
NM_002076.4(GNS):c.812G>A (p.Arg271Lys) rs750298530 0.00001
NM_002076.4(GNS):c.859A>G (p.Asn287Asp) rs2539521292 0.00001
NM_002076.4(GNS):c.873A>G (p.Lys291=) rs1869701265 0.00001
NM_002076.4(GNS):c.875+20A>G rs1340355662 0.00001
NM_002076.4(GNS):c.875+2del rs1219484230 0.00001
NM_002076.4(GNS):c.875+9T>C rs774743479 0.00001
NM_002076.4(GNS):c.876-2A>G rs2539519932 0.00001
NM_002076.4(GNS):c.915A>G (p.Lys305=) rs766823105 0.00001
NM_002076.4(GNS):c.916C>A (p.Leu306Met) rs763169200 0.00001
NM_002076.4(GNS):c.940G>A (p.Gly314Arg) rs1245116202 0.00001
NM_002076.4(GNS):c.942G>A (p.Gly314=) rs376505567 0.00001
NM_002076.4(GNS):c.980A>G (p.Asn327Ser) rs778927646 0.00001
NM_002076.4(GNS):c.9C>G (p.Leu3=) rs1479493439 0.00001
NC_000012.11:g.(?_64173741)_(68052493_?)del
NC_000012.11:g.(?_65094311)_(65130836_?)del
NC_000012.11:g.(?_65110521)_(65116913_?)del
NC_000012.11:g.(?_65110521)_(65153056_?)dup
NC_000012.11:g.(?_65133151)_(65146547_?)dup
NC_000012.12:g.(?_64739371)_(64747928_?)del
NC_000012.12:g.(?_64747692)_(64747938_?)del
NM_002076.4(GNS):c.1017C>T (p.Asp339=) rs2539517855
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg) rs2539517850
NM_002076.4(GNS):c.1024C>G (p.Gln342Glu) rs1258489412
NM_002076.4(GNS):c.1027C>T (p.Leu343=) rs2136244455
NM_002076.4(GNS):c.1032T>C (p.Tyr344=) rs2539517827
NM_002076.4(GNS):c.1035G>A (p.Glu345=)
NM_002076.4(GNS):c.103C>T (p.Leu35=) rs2539541948
NM_002076.4(GNS):c.1056G>A (p.Leu352=) rs754626354
NM_002076.4(GNS):c.1056G>C (p.Leu352=) rs754626354
NM_002076.4(GNS):c.1063C>T (p.Arg355Ter) rs119461974
NM_002076.4(GNS):c.1064G>T (p.Arg355Leu) rs751200375
NM_002076.4(GNS):c.1068A>G (p.Gly356=) rs2539517788
NM_002076.4(GNS):c.1074del (p.Ile359fs)
NM_002076.4(GNS):c.1078A>G (p.Lys360Glu) rs1274212032
NM_002076.4(GNS):c.1082C>T (p.Pro361Leu) rs2539517765
NM_002076.4(GNS):c.108G>T (p.Gly36=) rs1870387135
NM_002076.4(GNS):c.1091C>T (p.Thr364Ile) rs2539517760
NM_002076.4(GNS):c.1098+19G>A rs1358864519
NM_002076.4(GNS):c.1098+1G>A rs2539517747
NM_002076.4(GNS):c.1098+3A>G rs1303967000
NM_002076.4(GNS):c.1098+7G>A rs945038474
NM_002076.4(GNS):c.1099-10A>C rs2136240601
NM_002076.4(GNS):c.1099-10A>G rs2136240601
NM_002076.4(GNS):c.1099-13C>T rs2539510831
NM_002076.4(GNS):c.1099-17T>C rs2136240606
NM_002076.4(GNS):c.1099-19T>C rs1317027103
NM_002076.4(GNS):c.1099-4A>G rs1221669137
NM_002076.4(GNS):c.1099-4A>T rs1221669137
NM_002076.4(GNS):c.1099-6T>C rs2136240597
NM_002076.4(GNS):c.109G>C (p.Val37Leu) rs1318522809
NM_002076.4(GNS):c.1102C>T (p.Leu368=) rs2539510804
NM_002076.4(GNS):c.1104G>C (p.Leu368=) rs766168524
NM_002076.4(GNS):c.1105G>A (p.Val369Ile) rs1054002278
NM_002076.4(GNS):c.1110C>T (p.Ala370=) rs1217090569
NM_002076.4(GNS):c.1114A>C (p.Ile372Leu) rs2136240576
NM_002076.4(GNS):c.111C>A (p.Val37=) rs1156605468
NM_002076.4(GNS):c.1122G>A (p.Leu374=) rs2539510769
NM_002076.4(GNS):c.1127C>G (p.Pro376Arg) rs768197243
NM_002076.4(GNS):c.1131T>C (p.Thr377=) rs746703630
NM_002076.4(GNS):c.1143T>A (p.Ile381=) rs778451711
NM_002076.4(GNS):c.1143T>C (p.Ile381=) rs778451711
NM_002076.4(GNS):c.1146T>A (p.Ala382=) rs2136240550
NM_002076.4(GNS):c.1152C>A (p.Tyr384Ter)
NM_002076.4(GNS):c.115G>A (p.Gly39Arg) rs766442530
NM_002076.4(GNS):c.1161T>G (p.Asn387Lys) rs2136240532
NM_002076.4(GNS):c.1166C>T (p.Thr389Ile) rs944030718
NM_002076.4(GNS):c.1168C>T (p.Gln390Ter) rs119461975
NM_002076.4(GNS):c.1179G>A (p.Gly393=) rs2136240521
NM_002076.4(GNS):c.117G>A (p.Gly39=)
NM_002076.4(GNS):c.118del (p.Val40fs) rs2136259376
NM_002076.4(GNS):c.1194C>G (p.Pro398=) rs1869298056
NM_002076.4(GNS):c.1199del (p.Ile399_Leu400insTer) rs1869297835
NM_002076.4(GNS):c.1200+11C>A rs775301317
NM_002076.4(GNS):c.1200+11C>T rs775301317
NM_002076.4(GNS):c.1200+14C>T rs1384237314
NM_002076.4(GNS):c.1200+15C>G rs920034450
NM_002076.4(GNS):c.1200+15C>T rs920034450
NM_002076.4(GNS):c.1200+18A>G rs745497035
NM_002076.4(GNS):c.1200+1G>T rs2539510674
NM_002076.4(GNS):c.1200+2T>A rs2136240508
NM_002076.4(GNS):c.1200+5_1200+7del rs2136240506
NM_002076.4(GNS):c.1200+8T>C rs768052687
NM_002076.4(GNS):c.1201-10T>C rs2539505317
NM_002076.4(GNS):c.1201-11C>T rs2539505320
NM_002076.4(GNS):c.1201-11_1201-10del rs1565881081
NM_002076.4(GNS):c.1201-12T>C rs1869085059
NM_002076.4(GNS):c.1201-13C>T rs1869085149
NM_002076.4(GNS):c.1201-17C>T rs1869085360
NM_002076.4(GNS):c.1201-20C>T
NM_002076.4(GNS):c.1201-4C>G rs2136237942
NM_002076.4(GNS):c.1201-4C>T rs2136237942
NM_002076.4(GNS):c.1201A>G (p.Arg401Gly) rs2539505302
NM_002076.4(GNS):c.1212T>C (p.Ser404=) rs2136237933
NM_002076.4(GNS):c.1215C>T (p.Asn405=) rs1425989538
NM_002076.4(GNS):c.1216T>C (p.Leu406=) rs1869083895
NM_002076.4(GNS):c.1221C>T (p.Thr407=) rs773323544
NM_002076.4(GNS):c.1225C>T (p.Arg409Ter) rs2539505252
NM_002076.4(GNS):c.1231G>C (p.Asp411His) rs2539505242
NM_002076.4(GNS):c.1231dup (p.Asp411fs) rs2539505244
NM_002076.4(GNS):c.1234G>A (p.Val412Ile) rs2136237916
NM_002076.4(GNS):c.1245A>G (p.Glu415=) rs2539505232
NM_002076.4(GNS):c.1249C>T (p.Gln417Ter) rs2136237909
NM_002076.4(GNS):c.1260C>T (p.Gly420=)
NM_002076.4(GNS):c.1264A>G (p.Asn422Asp) rs2539505217
NM_002076.4(GNS):c.1269C>T (p.Val423=) rs1360246501
NM_002076.4(GNS):c.1277dup (p.Thr427fs)
NM_002076.4(GNS):c.1280_1281del (p.Thr427fs)
NM_002076.4(GNS):c.1281A>G (p.Thr427=) rs1236986224
NM_002076.4(GNS):c.1287T>C (p.Pro429=)
NM_002076.4(GNS):c.1291del (p.Ser430_Leu431insTer)
NM_002076.4(GNS):c.1305A>G (p.Val435=) rs1259126055
NM_002076.4(GNS):c.1308+10A>G
NM_002076.4(GNS):c.1308+14T>G rs2539505161
NM_002076.4(GNS):c.1308+7A>C rs2539505165
NM_002076.4(GNS):c.1308+8A>T rs2539505164
NM_002076.4(GNS):c.1309-15G>T rs770579363
NM_002076.4(GNS):c.1309-16T>C rs1285523034
NM_002076.4(GNS):c.1309-4A>T rs2539503946
NM_002076.4(GNS):c.1309-6C>G rs1592491918
NM_002076.4(GNS):c.1309-6C>T rs1592491918
NM_002076.4(GNS):c.1309-8C>A rs980860821
NM_002076.4(GNS):c.1309-9T>C rs1869033080
NM_002076.4(GNS):c.1311A>G (p.Gln437=) rs376356295
NM_002076.4(GNS):c.1320A>G (p.Pro440=) rs2539503934
NM_002076.4(GNS):c.1323C>G (p.Asp441Glu) rs2539503929
NM_002076.4(GNS):c.1325G>A (p.Cys442Tyr) rs2539503926
NM_002076.4(GNS):c.1326T>C (p.Cys442=) rs2539503921
NM_002076.4(GNS):c.1327G>A (p.Val443Ile) rs772152055
NM_002076.4(GNS):c.132C>G (p.Thr44=) rs1592514574
NM_002076.4(GNS):c.133C>A (p.Arg45=) rs1870385540
NM_002076.4(GNS):c.1341T>G (p.Ala447=) rs2539503906
NM_002076.4(GNS):c.1353C>A (p.Thr451=) rs749445364
NM_002076.4(GNS):c.1370C>T (p.Thr457Ile) rs2136237284
NM_002076.4(GNS):c.1371A>C (p.Thr457=) rs752697453
NM_002076.4(GNS):c.1375T>G (p.Ser459Ala) rs2539503865
NM_002076.4(GNS):c.1398T>C (p.Tyr466=) rs2136237264
NM_002076.4(GNS):c.1414C>T (p.Gln472Ter) rs2136237257
NM_002076.4(GNS):c.1414dup (p.Gln472fs) rs2539503808
NM_002076.4(GNS):c.1416G>A (p.Gln472=)
NM_002076.4(GNS):c.1419+17C>T rs2539503778
NM_002076.4(GNS):c.1419+7G>A rs2539503791
NM_002076.4(GNS):c.1419+7G>C rs2539503791
NM_002076.4(GNS):c.1420-16C>G rs765979939
NM_002076.4(GNS):c.1420-19A>C rs2136236660
NM_002076.4(GNS):c.1420-19A>T rs2136236660
NM_002076.4(GNS):c.1420-2A>G rs2136236649
NM_002076.4(GNS):c.1420-6C>T rs2136236651
NM_002076.4(GNS):c.142A>C (p.Asn48His) rs1870384944
NM_002076.4(GNS):c.1437T>C (p.Tyr479=)
NM_002076.4(GNS):c.1441C>T (p.Leu481=) rs2136236637
NM_002076.4(GNS):c.1446T>A (p.Thr482=) rs2539502347
NM_002076.4(GNS):c.1448C>A (p.Ala483Glu) rs1163229693
NM_002076.4(GNS):c.144C>T (p.Asn48=) rs2136259327
NM_002076.4(GNS):c.1455A>G (p.Pro485=) rs2539502331
NM_002076.4(GNS):c.1458C>T (p.Asp486=) rs2136236622
NM_002076.4(GNS):c.1459C>T (p.Gln487Ter) rs2136236619
NM_002076.4(GNS):c.1466C>T (p.Thr489Ile)
NM_002076.4(GNS):c.1471A>G (p.Ile491Val) rs1868979270
NM_002076.4(GNS):c.1473T>A (p.Ile491=) rs2136236609
NM_002076.4(GNS):c.1488C>T (p.Asp496=) rs2539502284
NM_002076.4(GNS):c.148dup (p.Val50fs) rs2136259310
NM_002076.4(GNS):c.1491A>G (p.Pro497=) rs2136236596
NM_002076.4(GNS):c.1503A>C (p.Gly501=) rs2539502274
NM_002076.4(GNS):c.1518G>A (p.Arg506=) rs1000381159
NM_002076.4(GNS):c.1518G>T (p.Arg506=) rs1000381159
NM_002076.4(GNS):c.1535C>T (p.Ser512Phe) rs372487118
NM_002076.4(GNS):c.1537T>G (p.Cys513Gly) rs1868977514
NM_002076.4(GNS):c.1539T>C (p.Cys513=) rs369074040
NM_002076.4(GNS):c.153G>C (p.Leu51=) rs1592514529
NM_002076.4(GNS):c.1554T>A (p.Cys518Ter) rs749857419
NM_002076.4(GNS):c.1560T>G (p.Thr520=) rs2539502179
NM_002076.4(GNS):c.156C>G (p.Leu52=) rs951936514
NM_002076.4(GNS):c.1571T>C (p.Phe524Ser) rs2539502167
NM_002076.4(GNS):c.1575C>T (p.Asp525=) rs2136236573
NM_002076.4(GNS):c.1578C>A (p.Pro526=) rs753472052
NM_002076.4(GNS):c.1578C>G (p.Pro526=) rs753472052
NM_002076.4(GNS):c.1580+10C>T rs2136236567
NM_002076.4(GNS):c.1580+13T>C rs2539502128
NM_002076.4(GNS):c.1580+17T>C rs2136236562
NM_002076.4(GNS):c.1580+9C>G rs1429111979
NM_002076.4(GNS):c.1581-14T>C rs2539499909
NM_002076.4(GNS):c.1581-15G>A rs2539499910
NM_002076.4(GNS):c.1581-1G>A rs1868873740
NM_002076.4(GNS):c.1581-5C>G rs2539499905
NM_002076.4(GNS):c.1581-9C>T
NM_002076.4(GNS):c.1584C>T (p.Tyr528=) rs1012454282
NM_002076.4(GNS):c.1585A>G (p.Arg529Gly) rs2539499886
NM_002076.4(GNS):c.1594C>T (p.Pro532Ser) rs202228620
NM_002076.4(GNS):c.1596C>T (p.Pro532=) rs2539499869
NM_002076.4(GNS):c.159C>T (p.Leu53=) rs2136259284
NM_002076.4(GNS):c.15T>C (p.Pro5=) rs2539542258
NM_002076.4(GNS):c.1600C>T (p.Leu534Phe) rs2539499859
NM_002076.4(GNS):c.1609A>C (p.Ser537Arg) rs776925981
NM_002076.4(GNS):c.1617C>T (p.Arg539=) rs1592489447
NM_002076.4(GNS):c.1623T>C (p.Ser541=) rs2136235293
NM_002076.4(GNS):c.1626C>T (p.Val542=) rs1465256900
NM_002076.4(GNS):c.162G>C (p.Thr54=) rs759913738
NM_002076.4(GNS):c.1652T>C (p.Leu551Pro) rs2539499814
NM_002076.4(GNS):c.1656G>A (p.Leu552=) rs1382653749
NM_002076.4(GNS):c.165C>T (p.Asp55=) rs1345914923
NM_002076.4(GNS):c.16C>G (p.Leu6Val) rs746189087
NM_002076.4(GNS):c.181C>T (p.Leu61Phe) rs1384470031
NM_002076.4(GNS):c.183C>G (p.Leu61=) rs1026114202
NM_002076.4(GNS):c.187G>T (p.Gly63Cys) rs2539541617
NM_002076.4(GNS):c.18A>G (p.Leu6=) rs2136259594
NM_002076.4(GNS):c.192+10C>T rs2539541566
NM_002076.4(GNS):c.192+10_192+11del rs1592514466
NM_002076.4(GNS):c.192+12G>C
NM_002076.4(GNS):c.192+12G>T rs1870381062
NM_002076.4(GNS):c.192+16C>T rs1173989522
NM_002076.4(GNS):c.192+19C>T rs1870380285
NM_002076.4(GNS):c.192+7_192+8del rs754319793
NM_002076.4(GNS):c.192+8T>A rs2136259214
NM_002076.4(GNS):c.192+8T>C rs2136259214
NM_002076.4(GNS):c.193-10_193-7del rs1870119721
NM_002076.4(GNS):c.193-13C>T rs773596876
NM_002076.4(GNS):c.193-15T>G rs763245025
NM_002076.4(GNS):c.193-7T>C rs1334572707
NM_002076.4(GNS):c.198G>T (p.Pro66=) rs1147096
NM_002076.4(GNS):c.201A>G (p.Leu67=) rs2539533306
NM_002076.4(GNS):c.204G>T (p.Lys68Asn)
NM_002076.4(GNS):c.214_220del (p.Ala72fs) rs759378094
NM_002076.4(GNS):c.219C>A (p.Leu73=) rs376829383
NM_002076.4(GNS):c.222C>G (p.Ile74Met) rs1375026446
NM_002076.4(GNS):c.222C>T (p.Ile74=) rs1375026446
NM_002076.4(GNS):c.227A>G (p.Glu76Gly) rs1870117172
NM_002076.4(GNS):c.229A>G (p.Met77Val) rs763723151
NM_002076.4(GNS):c.236_252+8del rs2136253236
NM_002076.4(GNS):c.23del (p.Pro8fs) rs2136259586
NM_002076.4(GNS):c.246C>T (p.Ser82=) rs2136253254
NM_002076.4(GNS):c.246del (p.Ser83fs) rs2539533247
NM_002076.4(GNS):c.249T>C (p.Ser83=)
NM_002076.4(GNS):c.24A>G (p.Pro8=) rs2136259580
NM_002076.4(GNS):c.252+16_252+17del
NM_002076.4(GNS):c.252+1G>T rs368414819
NM_002076.4(GNS):c.252+20C>G rs773575026
NM_002076.4(GNS):c.252+20C>T rs773575026
NM_002076.4(GNS):c.253-10del rs201654719
NM_002076.4(GNS):c.253-11T>C rs557641309
NM_002076.4(GNS):c.253-11T>G rs557641309
NM_002076.4(GNS):c.253-15del rs774144462
NM_002076.4(GNS):c.253-17C>T rs752163230
NM_002076.4(GNS):c.253-5T>C rs2539528094
NM_002076.4(GNS):c.253-6T>C rs2539528101
NM_002076.4(GNS):c.254A>G (p.Tyr85Cys) rs2539528083
NM_002076.4(GNS):c.255T>G (p.Tyr85Ter) rs765701552
NM_002076.4(GNS):c.257_258del (p.Val86fs) rs1355457071
NM_002076.4(GNS):c.270C>T (p.Leu90=) rs1380084978
NM_002076.4(GNS):c.276C>T (p.Cys92=) rs2539528043
NM_002076.4(GNS):c.279C>T (p.Pro93=) rs1592506570
NM_002076.4(GNS):c.285A>T (p.Arg95Ser) rs545765198
NM_002076.4(GNS):c.286_287del (p.Ala96fs) rs2539528031
NM_002076.4(GNS):c.294C>T (p.Ile98=) rs1367079611
NM_002076.4(GNS):c.295C>T (p.Leu99=) rs772243805
NM_002076.4(GNS):c.297G>A (p.Leu99=) rs1565627083
NM_002076.4(GNS):c.300A>G (p.Thr100=) rs370542872
NM_002076.4(GNS):c.30G>T (p.Arg10=) rs753033310
NM_002076.4(GNS):c.320_326del (p.His107fs) rs2539527952
NM_002076.4(GNS):c.321T>C (p.His107=) rs2539527960
NM_002076.4(GNS):c.327T>A (p.Val109=) rs2539527950
NM_002076.4(GNS):c.333C>G (p.Asn111Lys) rs1199190795
NM_002076.4(GNS):c.339T>A (p.Thr113=) rs1869942986
NM_002076.4(GNS):c.345G>A (p.Glu115=) rs2539527918
NM_002076.4(GNS):c.348G>A (p.Gly116=) rs1246650646
NM_002076.4(GNS):c.34C>T (p.Arg12Trp) rs1235103274
NM_002076.4(GNS):c.35G>A (p.Arg12Gln) rs2136259563
NM_002076.4(GNS):c.360T>C (p.Ser120=) rs2136249902
NM_002076.4(GNS):c.365C>G (p.Ser122Cys) rs757648961
NM_002076.4(GNS):c.372G>A (p.Gln124=) rs1465528100
NM_002076.4(GNS):c.379del (p.Gln127fs) rs1869941124
NM_002076.4(GNS):c.384A>G (p.Glu128=) rs1374081711
NM_002076.4(GNS):c.386C>G (p.Pro129Arg) rs1458709315
NM_002076.4(GNS):c.386dup (p.Asn130fs) rs2136249878
NM_002076.4(GNS):c.391A>T (p.Thr131Ser) rs1157662569
NM_002076.4(GNS):c.393T>A (p.Thr131=) rs1869940104
NM_002076.4(GNS):c.393T>C (p.Thr131=) rs1869940104
NM_002076.4(GNS):c.393T>G (p.Thr131=) rs1869940104
NM_002076.4(GNS):c.39G>A (p.Arg13=) rs956710996
NM_002076.4(GNS):c.400del (p.Ala134fs) rs1869939768
NM_002076.4(GNS):c.403A>G (p.Ile135Val)
NM_002076.4(GNS):c.413C>A (p.Ser138Ter) rs2539527781
NM_002076.4(GNS):c.441del (p.Lys149fs) rs2539527738
NM_002076.4(GNS):c.446A>G (p.Lys149Arg) rs2539527724
NM_002076.4(GNS):c.447A>G (p.Lys149=) rs2539527719
NM_002076.4(GNS):c.459+10A>G rs762826979
NM_002076.4(GNS):c.459+11T>C rs2539527701
NM_002076.4(GNS):c.459+11_459+14del rs2539527694
NM_002076.4(GNS):c.459+12G>C rs1329462547
NM_002076.4(GNS):c.459+14T>A rs78614637
NM_002076.4(GNS):c.459+16T>G rs2539527679
NM_002076.4(GNS):c.459+18T>C rs2539527676
NM_002076.4(GNS):c.459+8G>T rs199789530
NM_002076.4(GNS):c.459+9A>G
NM_002076.4(GNS):c.460-10T>C rs2539526024
NM_002076.4(GNS):c.460-17C>T rs1489117986
NM_002076.4(GNS):c.460-20C>G rs778325313
NM_002076.4(GNS):c.460-20C>T rs778325313
NM_002076.4(GNS):c.460-4T>G rs2136248910
NM_002076.4(GNS):c.460-5T>G rs2539526016
NM_002076.4(GNS):c.468C>A (p.Ala156=) rs147780685
NM_002076.4(GNS):c.471A>G (p.Pro157=) rs2136248890
NM_002076.4(GNS):c.472G>A (p.Asp158Asn) rs2539526001
NM_002076.4(GNS):c.477A>G (p.Ala159=) rs2539525988
NM_002076.4(GNS):c.486A>G (p.Leu162=) rs766459418
NM_002076.4(GNS):c.48C>G (p.Pro16=) rs2136259544
NM_002076.4(GNS):c.493G>A (p.Val165Ile) rs986213151
NM_002076.4(GNS):c.498T>C (p.Pro166=) rs2136248867
NM_002076.4(GNS):c.49dup (p.Arg17fs) rs1870392122
NM_002076.4(GNS):c.4del (p.Arg2fs) rs2136259630
NM_002076.4(GNS):c.504T>C (p.Gly168=) rs2539525962
NM_002076.4(GNS):c.506G>A (p.Trp169Ter) rs2136248862
NM_002076.4(GNS):c.510T>C (p.Ser170=) rs2539525958
NM_002076.4(GNS):c.513C>T (p.Tyr171=) rs2539525948
NM_002076.4(GNS):c.522C>T (p.Ala174=) rs2136248842
NM_002076.4(GNS):c.525+10T>C rs375745502
NM_002076.4(GNS):c.525+12T>C rs746553347
NM_002076.4(GNS):c.525+16A>T rs1869876863
NM_002076.4(GNS):c.525+19C>T rs895486578
NM_002076.4(GNS):c.525+20T>C rs1428097709
NM_002076.4(GNS):c.525G>A (p.Leu175=) rs2136248840
NM_002076.4(GNS):c.526-11C>T rs2136248437
NM_002076.4(GNS):c.526-13dup
NM_002076.4(GNS):c.526-14C>G
NM_002076.4(GNS):c.526-16T>C rs760573564
NM_002076.4(GNS):c.526-6del rs2136248435
NM_002076.4(GNS):c.526G>T (p.Glu176Ter) rs2136248430
NM_002076.4(GNS):c.537T>G (p.Ser179=) rs2539525016
NM_002076.4(GNS):c.538A>T (p.Lys180Ter) rs2136248422
NM_002076.4(GNS):c.54C>T (p.His18=) rs2136259524
NM_002076.4(GNS):c.55C>T (p.Leu19=) rs1307936431
NM_002076.4(GNS):c.561T>A (p.Ser187=) rs1375515095
NM_002076.4(GNS):c.561T>C (p.Ser187=) rs1375515095
NM_002076.4(GNS):c.568G>C (p.Gly190Arg)
NM_002076.4(GNS):c.585T>C (p.His195=) rs1322850279
NM_002076.4(GNS):c.587G>A (p.Gly196Asp) rs2539524958
NM_002076.4(GNS):c.596A>G (p.Tyr199Cys) rs760693972
NM_002076.4(GNS):c.59_66del (p.Pro20fs) rs2539542110
NM_002076.4(GNS):c.600T>C (p.Ser200=) rs2136248388
NM_002076.4(GNS):c.605A>T (p.Asp202Val) rs1439386150
NM_002076.4(GNS):c.60C>T (p.Pro20=) rs1870391258
NM_002076.4(GNS):c.624+11G>A rs2539524906
NM_002076.4(GNS):c.624+13A>G rs2539524903
NM_002076.4(GNS):c.624+14G>C rs1869848878
NM_002076.4(GNS):c.624+14G>T rs1869848878
NM_002076.4(GNS):c.624+15C>G
NM_002076.4(GNS):c.624+9C>T rs2539524910
NM_002076.4(GNS):c.625-10dup rs2136247672
NM_002076.4(GNS):c.625-13T>A rs1195674881
NM_002076.4(GNS):c.625-16T>A rs2539523832
NM_002076.4(GNS):c.625-17A>C
NM_002076.4(GNS):c.625-18A>G rs1440360711
NM_002076.4(GNS):c.625-1G>A rs2539523804
NM_002076.4(GNS):c.625-2A>G rs2136247666
NM_002076.4(GNS):c.625-5G>C rs2136247669
NM_002076.4(GNS):c.627T>A (p.Ala209=) rs772521115
NM_002076.4(GNS):c.633C>A (p.Val211=) rs367799685
NM_002076.4(GNS):c.636C>G (p.Ser212=) rs2539523794
NM_002076.4(GNS):c.638del (p.Leu213fs) rs2136247658
NM_002076.4(GNS):c.63C>T (p.Ser21=) rs2539542115
NM_002076.4(GNS):c.640G>T (p.Asp214Tyr) rs2539523789
NM_002076.4(GNS):c.645T>C (p.Phe215=) rs1193339932
NM_002076.4(GNS):c.650A>G (p.Asp217Gly) rs1028132338
NM_002076.4(GNS):c.654C>A (p.Tyr218Ter) rs2136247644
NM_002076.4(GNS):c.663C>T (p.Asn221=) rs2136247641
NM_002076.4(GNS):c.666T>C (p.Phe222=) rs1277378225
NM_002076.4(GNS):c.667G>T (p.Glu223Ter) rs3203621
NM_002076.4(GNS):c.669G>A (p.Glu223=) rs2539523757
NM_002076.4(GNS):c.66C>T (p.Cys22=) rs2539542105
NM_002076.4(GNS):c.672C>T (p.Pro224=) rs2539523751
NM_002076.4(GNS):c.675C>T (p.Phe225=) rs752485867
NM_002076.4(GNS):c.679A>C (p.Met227Leu) rs901034074
NM_002076.4(GNS):c.705T>C (p.His235=) rs2136247609
NM_002076.4(GNS):c.707C>T (p.Ser236Leu) rs769055154
NM_002076.4(GNS):c.708G>T (p.Ser236=) rs775884527
NM_002076.4(GNS):c.70C>G (p.Pro24Ala) rs1167712983
NM_002076.4(GNS):c.710C>T (p.Pro237Leu) rs1236544265
NM_002076.4(GNS):c.714G>A (p.Trp238Ter) rs2539523681
NM_002076.4(GNS):c.717A>G (p.Thr239=) rs1263645910
NM_002076.4(GNS):c.717A>T (p.Thr239=) rs1263645910
NM_002076.4(GNS):c.720T>C (p.Ala240=) rs2136247587
NM_002076.4(GNS):c.720T>G (p.Ala240=) rs2136247587
NM_002076.4(GNS):c.723A>C (p.Ala241=) rs770999308
NM_002076.4(GNS):c.732C>G (p.Tyr244Ter) rs2136247574
NM_002076.4(GNS):c.738G>A (p.Lys246=) rs2539523640
NM_002076.4(GNS):c.744C>G (p.Phe248Leu) rs1378658191
NM_002076.4(GNS):c.744C>T (p.Phe248=) rs1378658191
NM_002076.4(GNS):c.750T>C (p.Asn250=) rs752828899
NM_002076.4(GNS):c.760C>A (p.Pro254Thr) rs2539523616
NM_002076.4(GNS):c.762A>G (p.Pro254=) rs2136247555
NM_002076.4(GNS):c.763A>C (p.Arg255=) rs754806632
NM_002076.4(GNS):c.76C>T (p.Leu26=) rs1000939393
NM_002076.4(GNS):c.779A>G (p.Asn260Ser) rs2136247542
NM_002076.4(GNS):c.783C>T (p.Ile261=) rs2136247536
NM_002076.4(GNS):c.787G>C (p.Gly263Arg) rs2539523573
NM_002076.4(GNS):c.789A>G (p.Gly263=) rs2136247530
NM_002076.4(GNS):c.78G>A (p.Leu26=) rs2539542054
NM_002076.4(GNS):c.792+12C>A
NM_002076.4(GNS):c.792+13A>G rs764633225
NM_002076.4(GNS):c.792+14C>T
NM_002076.4(GNS):c.792+1G>A rs2539523565
NM_002076.4(GNS):c.792+9C>T rs2136247523
NM_002076.4(GNS):c.793-11C>T rs1238001692
NM_002076.4(GNS):c.793-15del rs754323701
NM_002076.4(GNS):c.793-15dup rs754323701
NM_002076.4(GNS):c.798G>A (p.Lys266=) rs2539521395
NM_002076.4(GNS):c.801C>T (p.His267=) rs758411953
NM_002076.4(GNS):c.825T>C (p.Thr275=) rs1869702572
NM_002076.4(GNS):c.828A>G (p.Pro276=) rs756712675
NM_002076.4(GNS):c.837T>C (p.Asn279=) rs1869702299
NM_002076.4(GNS):c.841_842insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTAATTCTT (p.Ser280_Ser281insPhePhePhePhePhePhePheXaaXaaXaaXaaProArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProThrAsnSer) rs2136246147
NM_002076.4(GNS):c.849G>A (p.Gln283=) rs1432455395
NM_002076.4(GNS):c.855A>G (p.Leu285=) rs2136246141
NM_002076.4(GNS):c.858T>C (p.Asp286=) rs2136246138
NM_002076.4(GNS):c.85C>G (p.Leu29Val) rs1245676297
NM_002076.4(GNS):c.85C>T (p.Leu29=) rs1245676297
NM_002076.4(GNS):c.861T>C (p.Asn287=) rs2539521288
NM_002076.4(GNS):c.875+14C>A rs2539521250
NM_002076.4(GNS):c.875+17C>G rs2539521246
NM_002076.4(GNS):c.875+18A>G rs748171659
NM_002076.4(GNS):c.875+1G>A rs1214781989
NM_002076.4(GNS):c.875+7G>A rs968486495
NM_002076.4(GNS):c.875+7GCT[4] rs2539521248
NM_002076.4(GNS):c.875+9dup rs2539521267
NM_002076.4(GNS):c.876-17C>T rs2136245561
NM_002076.4(GNS):c.876-19A>G rs1869660937
NM_002076.4(GNS):c.876-5del rs2136245551
NM_002076.4(GNS):c.876-8A>C rs1869660466
NM_002076.4(GNS):c.876-8A>G rs1869660466
NM_002076.4(GNS):c.87G>T (p.Leu29=) rs2136259446
NM_002076.4(GNS):c.882A>C (p.Gln294His) rs2136245535
NM_002076.4(GNS):c.882A>G (p.Gln294=) rs2136245535
NM_002076.4(GNS):c.887_888del (p.Leu296fs) rs2136245530
NM_002076.4(GNS):c.903C>T (p.Asp301=) rs761143788
NM_002076.4(GNS):c.906T>C (p.Leu302=) rs2136245524
NM_002076.4(GNS):c.911A>G (p.Glu304Gly) rs1487656448
NM_002076.4(GNS):c.916C>G (p.Leu306Val) rs763169200
NM_002076.4(GNS):c.918G>A (p.Leu306=) rs2539519869
NM_002076.4(GNS):c.921C>G (p.Val307=) rs2539519864
NM_002076.4(GNS):c.921C>T (p.Val307=) rs2539519864
NM_002076.4(GNS):c.923A>G (p.Lys308Arg) rs1168212943
NM_002076.4(GNS):c.926G>A (p.Arg309Lys) rs750944174
NM_002076.4(GNS):c.927G>A (p.Arg309=) rs2136245513
NM_002076.4(GNS):c.928C>T (p.Leu310=)
NM_002076.4(GNS):c.937dup (p.Thr313fs) rs2539519835
NM_002076.4(GNS):c.939T>G (p.Thr313=) rs1869657867
NM_002076.4(GNS):c.948C>T (p.Leu316=)
NM_002076.4(GNS):c.950A>G (p.Asn317Ser) rs2136245502
NM_002076.4(GNS):c.951C>T (p.Asn317=) rs761047627
NM_002076.4(GNS):c.959dup (p.Tyr320Ter) rs777789027
NM_002076.4(GNS):c.960C>T (p.Tyr320=) rs775564692
NM_002076.4(GNS):c.96C>A (p.Gly32=) rs754732625
NM_002076.4(GNS):c.96C>T (p.Gly32=) rs754732625
NM_002076.4(GNS):c.974C>G (p.Ser325Ter) rs2539519779
NM_002076.4(GNS):c.975A>G (p.Ser325=) rs2539519776
NM_002076.4(GNS):c.978C>T (p.Asp326=) rs2136245486
NM_002076.4(GNS):c.986A>G (p.Tyr329Cys) rs1338188022
NM_002076.4(GNS):c.994+15T>G rs1592501849
NM_002076.4(GNS):c.994+20A>G rs2539519751
NM_002076.4(GNS):c.994+7G>A rs2539519764
NM_002076.4(GNS):c.995-13G>A rs2539517890
NM_002076.4(GNS):c.995-17G>T
NM_002076.4(GNS):c.995-19T>G rs2539517907
NM_002076.4(GNS):c.995-2A>C rs1555220398
NM_002076.4(GNS):c.995-4T>G rs1565884569
NM_002076.4(GNS):c.995-9T>A rs2136244474

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