ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, musculocontractural type by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 390
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HGVS dbSNP gnomAD frequency
NM_013352.4(DSE):c.1926T>C (p.Asn642=) rs560644 0.95438
NM_013352.4(DSE):c.74C>T (p.Thr25Ile) rs10485183 0.23388
NM_013352.4(DSE):c.1142T>C (p.Val381Ala) rs41313440 0.05356
NM_013352.4(DSE):c.1926= (p.Asn642=) rs560644 0.04562
NM_013352.4(DSE):c.101C>T (p.Pro34Leu) rs35548455 0.04141
NM_013352.4(DSE):c.53G>T (p.Cys18Phe) rs76186865 0.03160
NM_013352.4(DSE):c.844A>G (p.Ile282Val) rs34994230 0.02817
NM_013352.4(DSE):c.1118+15G>A rs116330739 0.01381
NM_013352.4(DSE):c.114C>T (p.Ala38=) rs36061922 0.00553
NM_013352.4(DSE):c.711G>C (p.Leu237=) rs140034597 0.00484
NM_013352.4(DSE):c.209G>A (p.Arg70His) rs147683614 0.00278
NM_130468.4(CHST14):c.288G>A (p.Arg96=) rs371684007 0.00195
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln) rs35363262 0.00180
NM_013352.4(DSE):c.216G>A (p.Thr72=) rs61747210 0.00164
NM_013352.4(DSE):c.2120C>G (p.Ser707Cys) rs140975523 0.00153
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) rs61741781 0.00116
NM_130468.4(CHST14):c.210C>T (p.Pro70=) rs191997027 0.00111
NM_130468.4(CHST14):c.807T>C (p.Asp269=) rs139229738 0.00104
NM_013352.4(DSE):c.2687T>G (p.Leu896Arg) rs149649831 0.00052
NM_013352.4(DSE):c.1173G>A (p.Leu391=) rs146663575 0.00051
NM_013352.4(DSE):c.1653G>A (p.Leu551=) rs147124340 0.00051
NM_130468.4(CHST14):c.635T>C (p.Val212Ala) rs144629123 0.00046
NM_013352.4(DSE):c.1004G>A (p.Arg335His) rs371480627 0.00029
NM_013352.4(DSE):c.35T>A (p.Phe12Tyr) rs142885560 0.00024
NM_130468.4(CHST14):c.993C>A (p.Ala331=) rs138273557 0.00022
NM_013352.4(DSE):c.2129C>T (p.Ala710Val) rs533772643 0.00021
NM_013352.4(DSE):c.2761A>G (p.Thr921Ala) rs143226402 0.00021
NM_013352.4(DSE):c.450G>A (p.Pro150=) rs773416085 0.00019
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn) rs766643057 0.00019
NM_130468.4(CHST14):c.471G>A (p.Val157=) rs200761477 0.00018
NM_013352.4(DSE):c.2727T>C (p.Ile909=) rs199742443 0.00017
NM_013352.4(DSE):c.1221T>A (p.Pro407=) rs140103226 0.00016
NM_013352.4(DSE):c.910+20G>A rs376761852 0.00015
NM_013352.4(DSE):c.240C>T (p.Ser80=) rs143347973 0.00014
NM_130468.4(CHST14):c.765C>T (p.Gly255=) rs148053059 0.00014
NM_130468.4(CHST14):c.398A>C (p.Gln133Pro) rs866817984 0.00013
NM_130468.4(CHST14):c.796T>C (p.Tyr266His) rs377155775 0.00013
NM_013352.4(DSE):c.1383T>A (p.Ala461=) rs200485959 0.00011
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln) rs371043332 0.00011
NM_013352.4(DSE):c.2842T>C (p.Trp948Arg) rs146336077 0.00011
NM_013352.4(DSE):c.516A>G (p.Thr172=) rs200780195 0.00011
NM_013352.4(DSE):c.645G>A (p.Thr215=) rs370613241 0.00011
NM_130468.4(CHST14):c.1036G>C (p.Ala346Pro) rs762133798 0.00010
NM_130468.4(CHST14):c.58C>T (p.Arg20Trp) rs577809616 0.00010
NM_013352.4(DSE):c.2005A>G (p.Ile669Val) rs145999978 0.00009
NM_013352.4(DSE):c.2601C>T (p.Tyr867=) rs535021192 0.00009
NM_013352.4(DSE):c.2663C>G (p.Thr888Ser) rs376771433 0.00009
NM_013352.4(DSE):c.359T>C (p.Ile120Thr) rs147451395 0.00009
NM_130468.4(CHST14):c.32C>T (p.Ala11Val) rs1030815676 0.00009
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr) rs181711422 0.00008
NM_013352.4(DSE):c.1860C>T (p.Asp620=) rs376227527 0.00008
NM_130468.4(CHST14):c.151G>C (p.Val51Leu) rs199749498 0.00008
NM_013352.4(DSE):c.1005T>A (p.Arg335=) rs375802351 0.00007
NM_013352.4(DSE):c.1222G>A (p.Ala408Thr) rs150311697 0.00007
NM_013352.4(DSE):c.1419C>T (p.Tyr473=) rs374010235 0.00006
NM_013352.4(DSE):c.208C>T (p.Arg70Cys) rs375337613 0.00006
NM_013352.4(DSE):c.2752A>G (p.Met918Val) rs780791978 0.00006
NM_013352.4(DSE):c.600A>G (p.Gln200=) rs150006874 0.00006
NM_130468.4(CHST14):c.447C>T (p.Phe149=) rs761965484 0.00006
NM_130468.4(CHST14):c.567G>A (p.Val189=) rs758319940 0.00006
NM_013352.4(DSE):c.2429G>A (p.Arg810Gln) rs367959320 0.00005
NM_130468.4(CHST14):c.1119G>A (p.Ala373=) rs149555952 0.00005
NM_013352.4(DSE):c.120C>T (p.Tyr40=) rs75392879 0.00004
NM_013352.4(DSE):c.1737C>T (p.Pro579=) rs765462761 0.00004
NM_013352.4(DSE):c.215C>T (p.Thr72Met) rs201564300 0.00004
NM_013352.4(DSE):c.2242C>T (p.His748Tyr) rs770096528 0.00004
NM_013352.4(DSE):c.2344G>T (p.Asp782Tyr) rs140764351 0.00004
NM_013352.4(DSE):c.2729C>G (p.Ala910Gly) rs377694163 0.00004
NM_013352.4(DSE):c.730C>T (p.Leu244=) rs1041865456 0.00004
NM_013352.4(DSE):c.95T>C (p.Met32Thr) rs140765634 0.00004
NM_130468.4(CHST14):c.111G>C (p.Pro37=) rs746603977 0.00004
NM_130468.4(CHST14):c.11G>C (p.Arg4Pro) rs1352733612 0.00004
NM_130468.4(CHST14):c.283C>T (p.Leu95Phe) rs755535418 0.00004
NM_130468.4(CHST14):c.315G>A (p.Arg105=) rs903042632 0.00004
NM_130468.4(CHST14):c.400C>T (p.Arg134Trp) rs368203130 0.00004
NM_130468.4(CHST14):c.869C>T (p.Ala290Val) rs763074027 0.00004
NM_130468.4(CHST14):c.891C>G (p.Gly297=) rs772809123 0.00004
NM_130468.4(CHST14):c.933G>C (p.Glu311Asp) rs927457735 0.00004
NM_013352.4(DSE):c.1140G>A (p.Ser380=) rs756171586 0.00003
NM_013352.4(DSE):c.136C>T (p.Leu46=) rs754023509 0.00003
NM_013352.4(DSE):c.753G>A (p.Thr251=) rs769250716 0.00003
NM_130468.4(CHST14):c.239G>A (p.Gly80Asp) rs371189136 0.00003
NM_130468.4(CHST14):c.743G>C (p.Gly248Ala) rs778069410 0.00003
NM_130468.4(CHST14):c.77C>T (p.Pro26Leu) rs1321331803 0.00003
NM_013352.4(DSE):c.121G>A (p.Asp41Asn) rs754763310 0.00002
NM_013352.4(DSE):c.189G>A (p.Ser63=) rs953029145 0.00002
NM_013352.4(DSE):c.2184G>A (p.Lys728=) rs150939596 0.00002
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly) rs199731077 0.00002
NM_013352.4(DSE):c.2661A>G (p.Thr887=) rs762839207 0.00002
NM_013352.4(DSE):c.2850C>T (p.Tyr950=) rs751986225 0.00002
NM_013352.4(DSE):c.780G>A (p.Ala260=) rs765697282 0.00002
NM_130468.4(CHST14):c.138G>C (p.Met46Ile) rs1466102278 0.00002
NM_130468.4(CHST14):c.143C>T (p.Ala48Val) rs780919131 0.00002
NM_130468.4(CHST14):c.173T>C (p.Leu58Pro) rs749135787 0.00002
NM_130468.4(CHST14):c.196G>A (p.Ala66Thr) rs1394541294 0.00002
NM_130468.4(CHST14):c.250C>A (p.Arg84Ser) rs561964206 0.00002
NM_130468.4(CHST14):c.252C>T (p.Arg84=) rs1377145039 0.00002
NM_130468.4(CHST14):c.293G>A (p.Gly98Glu) rs770839880 0.00002
NM_130468.4(CHST14):c.501G>C (p.Lys167Asn) rs763410236 0.00002
NM_130468.4(CHST14):c.592G>A (p.Glu198Lys) rs781430388 0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_130468.4(CHST14):c.861G>A (p.Gln287=) rs772452727 0.00002
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln) rs556002453 0.00002
NM_013352.4(DSE):c.1192G>A (p.Gly398Ser) rs775032838 0.00001
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys) rs767730463 0.00001
NM_013352.4(DSE):c.1273C>T (p.Arg425Cys) rs746187739 0.00001
NM_013352.4(DSE):c.1278A>G (p.Ala426=) rs1253141581 0.00001
NM_013352.4(DSE):c.1437C>T (p.Phe479=) rs757356537 0.00001
NM_013352.4(DSE):c.1491C>T (p.Pro497=) rs768130032 0.00001
NM_013352.4(DSE):c.1512A>G (p.Glu504=) rs200018749 0.00001
NM_013352.4(DSE):c.1609A>T (p.Ile537Phe) rs1213902929 0.00001
NM_013352.4(DSE):c.1736C>T (p.Pro579Leu) rs762084403 0.00001
NM_013352.4(DSE):c.17G>A (p.Arg6Gln) rs758271302 0.00001
NM_013352.4(DSE):c.1909C>T (p.Arg637Trp) rs763787753 0.00001
NM_013352.4(DSE):c.2054T>C (p.Val685Ala) rs749911499 0.00001
NM_013352.4(DSE):c.2147G>A (p.Arg716His) rs549153887 0.00001
NM_013352.4(DSE):c.2186G>A (p.Ser729Asn) rs779169990 0.00001
NM_013352.4(DSE):c.2221A>G (p.Ile741Val) rs780336360 0.00001
NM_013352.4(DSE):c.2326C>T (p.Arg776Cys) rs752624508 0.00001
NM_013352.4(DSE):c.2334G>T (p.Leu778=) rs534248134 0.00001
NM_013352.4(DSE):c.2386A>G (p.Ile796Val) rs774012350 0.00001
NM_013352.4(DSE):c.243C>T (p.Ser81=) rs780478969 0.00001
NM_013352.4(DSE):c.2580A>G (p.Leu860=) rs1361177296 0.00001
NM_013352.4(DSE):c.2724C>T (p.Asn908=) rs750711471 0.00001
NM_013352.4(DSE):c.2766T>C (p.Tyr922=) rs148311424 0.00001
NM_013352.4(DSE):c.404C>T (p.Ala135Val) rs370430595 0.00001
NM_013352.4(DSE):c.416+13C>T rs765373035 0.00001
NM_013352.4(DSE):c.495G>T (p.Leu165Phe) rs1057524129 0.00001
NM_013352.4(DSE):c.670+12C>T rs190922886 0.00001
NM_013352.4(DSE):c.75C>T (p.Thr25=) rs752936676 0.00001
NM_013352.4(DSE):c.864G>A (p.Pro288=) rs780424278 0.00001
NM_013352.4(DSE):c.885A>C (p.Ala295=) rs1444681997 0.00001
NM_013352.4(DSE):c.911-15A>G rs1232495093 0.00001
NM_130468.4(CHST14):c.1010A>G (p.His337Arg) rs772159874 0.00001
NM_130468.4(CHST14):c.158C>A (p.Ser53Tyr) rs896003662 0.00001
NM_130468.4(CHST14):c.171del (p.Leu58fs) rs1256212335 0.00001
NM_130468.4(CHST14):c.180C>T (p.Ile60=) rs938393246 0.00001
NM_130468.4(CHST14):c.189C>T (p.Gly63=) rs1398111943 0.00001
NM_130468.4(CHST14):c.198C>G (p.Ala66=) rs1014902072 0.00001
NM_130468.4(CHST14):c.217C>T (p.Leu73=) rs1482604204 0.00001
NM_130468.4(CHST14):c.297C>T (p.Asp99=) rs1328842726 0.00001
NM_130468.4(CHST14):c.325C>T (p.Arg109Trp) rs201632751 0.00001
NM_130468.4(CHST14):c.378C>G (p.Pro126=) rs752221539 0.00001
NM_130468.4(CHST14):c.401G>A (p.Arg134Gln) rs1484119071 0.00001
NM_130468.4(CHST14):c.439T>C (p.Tyr147His) rs775350610 0.00001
NM_130468.4(CHST14):c.45C>G (p.Ala15=) rs1566969002 0.00001
NM_130468.4(CHST14):c.467A>G (p.Lys156Arg) rs1017593366 0.00001
NM_130468.4(CHST14):c.548A>G (p.Asp183Gly) rs1595869476 0.00001
NM_130468.4(CHST14):c.580C>T (p.Leu194=) rs1310579126 0.00001
NM_130468.4(CHST14):c.582G>A (p.Leu194=) rs1377861803 0.00001
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro) rs121908257 0.00001
NM_130468.4(CHST14):c.642G>A (p.Glu214=) rs146662235 0.00001
NM_130468.4(CHST14):c.685G>A (p.Glu229Lys) rs370299419 0.00001
NM_130468.4(CHST14):c.687G>C (p.Glu229Asp) rs766320306 0.00001
NM_130468.4(CHST14):c.732G>C (p.Arg244=) rs1208945086 0.00001
NM_130468.4(CHST14):c.801G>C (p.Leu267=) rs998708059 0.00001
NM_130468.4(CHST14):c.822C>G (p.Arg274=) rs111456654 0.00001
NM_130468.4(CHST14):c.843C>T (p.Pro281=) rs778120798 0.00001
NM_130468.4(CHST14):c.871G>A (p.Val291Met) rs369563820 0.00001
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys) rs121908258 0.00001
NM_130468.4(CHST14):c.8C>T (p.Pro3Leu) rs1389417786 0.00001
NM_130468.4(CHST14):c.919A>G (p.Asn307Asp) rs767533841 0.00001
NM_130468.4(CHST14):c.922C>A (p.Gln308Lys) rs373443856 0.00001
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter) rs1555410784 0.00001
NM_130468.4(CHST14):c.978C>T (p.Ala326=) rs576061822 0.00001
NM_130468.4(CHST14):c.99G>A (p.Gly33=) rs545629118 0.00001
NC_000015.9:g.(?_40763403)_(40764553_?)dup
NC_000015.9:g.(?_40763413)_(40764543_?)dup
NM_013352.4(DSE):c.101C>G (p.Pro34Arg) rs35548455
NM_013352.4(DSE):c.102C>T (p.Pro34=)
NM_013352.4(DSE):c.1073C>G (p.Pro358Arg)
NM_013352.4(DSE):c.110A>G (p.Asn37Ser) rs371802983
NM_013352.4(DSE):c.110A>T (p.Asn37Ile) rs371802983
NM_013352.4(DSE):c.1170A>G (p.Thr390=)
NM_013352.4(DSE):c.1173_1174delinsAT (p.His392Tyr) rs2115093579
NM_013352.4(DSE):c.1197C>T (p.Val399=)
NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)
NM_013352.4(DSE):c.1243C>G (p.Leu415Val)
NM_013352.4(DSE):c.1284T>C (p.Tyr428=) rs1583235798
NM_013352.4(DSE):c.1293C>A (p.Val431=)
NM_013352.4(DSE):c.1323A>G (p.Lys441=)
NM_013352.4(DSE):c.1334A>G (p.Asn445Ser) rs1423707879
NM_013352.4(DSE):c.1360G>A (p.Asp454Asn) rs2115094114
NM_013352.4(DSE):c.1388A>G (p.Asn463Ser)
NM_013352.4(DSE):c.1407T>C (p.Thr469=)
NM_013352.4(DSE):c.1416G>T (p.Leu472=)
NM_013352.4(DSE):c.1420G>C (p.Gly474Arg)
NM_013352.4(DSE):c.1421G>C (p.Gly474Ala)
NM_013352.4(DSE):c.1435T>G (p.Phe479Val)
NM_013352.4(DSE):c.1437C>G (p.Phe479Leu) rs757356537
NM_013352.4(DSE):c.144C>T (p.Phe48=)
NM_013352.4(DSE):c.1488_1506del (p.Pro497fs) rs2115094515
NM_013352.4(DSE):c.1536A>C (p.Lys512Asn) rs2115094625
NM_013352.4(DSE):c.1608C>T (p.Phe536=)
NM_013352.4(DSE):c.1612C>G (p.Arg538Gly)
NM_013352.4(DSE):c.1614A>T (p.Arg538=)
NM_013352.4(DSE):c.1620A>G (p.Glu540=)
NM_013352.4(DSE):c.1635T>C (p.Tyr545=)
NM_013352.4(DSE):c.1643A>T (p.Gln548Leu) rs2115094990
NM_013352.4(DSE):c.1658A>G (p.Asn553Ser)
NM_013352.4(DSE):c.1673_1674del (p.Leu558fs) rs2115095071
NM_013352.4(DSE):c.1686T>A (p.His562Gln) rs2115095121
NM_013352.4(DSE):c.16C>A (p.Arg6=)
NM_013352.4(DSE):c.16C>T (p.Arg6Trp)
NM_013352.4(DSE):c.171G>T (p.Gln57His)
NM_013352.4(DSE):c.1735C>T (p.Pro579Ser)
NM_013352.4(DSE):c.1751C>T (p.Ala584Val)
NM_013352.4(DSE):c.1752G>A (p.Ala584=)
NM_013352.4(DSE):c.1752G>C (p.Ala584=) rs561665809
NM_013352.4(DSE):c.1809T>C (p.His603=)
NM_013352.4(DSE):c.182C>A (p.Ala61Asp) rs2114995025
NM_013352.4(DSE):c.1832A>G (p.Asp611Gly)
NM_013352.4(DSE):c.1834G>A (p.Gly612Ser)
NM_013352.4(DSE):c.1897G>A (p.Val633Met) rs550208733
NM_013352.4(DSE):c.1911G>C (p.Arg637=) rs2115096083
NM_013352.4(DSE):c.1916A>T (p.Tyr639Phe) rs1784155007
NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)
NM_013352.4(DSE):c.192C>T (p.His64=)
NM_013352.4(DSE):c.1938T>C (p.Tyr646=)
NM_013352.4(DSE):c.2016G>A (p.Gln672=)
NM_013352.4(DSE):c.201T>A (p.Ile67=)
NM_013352.4(DSE):c.2031C>T (p.His677=)
NM_013352.4(DSE):c.2032G>A (p.Gly678Arg)
NM_013352.4(DSE):c.2063C>T (p.Ala688Val) rs143443243
NM_013352.4(DSE):c.2072A>G (p.Lys691Arg)
NM_013352.4(DSE):c.2133G>A (p.Gln711=)
NM_013352.4(DSE):c.2146C>A (p.Arg716Ser) rs762120249
NM_013352.4(DSE):c.2146C>G (p.Arg716Gly)
NM_013352.4(DSE):c.2146C>T (p.Arg716Cys) rs762120249
NM_013352.4(DSE):c.2196C>A (p.Val732=)
NM_013352.4(DSE):c.21G>C (p.Gly7=)
NM_013352.4(DSE):c.2213A>G (p.Tyr738Cys)
NM_013352.4(DSE):c.2239C>T (p.Gln747Ter) rs1784181791
NM_013352.4(DSE):c.2288G>A (p.Arg763Gln)
NM_013352.4(DSE):c.2294G>A (p.Arg765Gln)
NM_013352.4(DSE):c.2302G>C (p.Ala768Pro)
NM_013352.4(DSE):c.230C>T (p.Thr77Met)
NM_013352.4(DSE):c.2358T>C (p.Thr786=) rs781704477
NM_013352.4(DSE):c.237G>A (p.Leu79=)
NM_013352.4(DSE):c.2401C>T (p.Gln801Ter)
NM_013352.4(DSE):c.2443C>T (p.Arg815Cys) rs760979521
NM_013352.4(DSE):c.2465T>C (p.Val822Ala) rs778282572
NM_013352.4(DSE):c.2500A>G (p.Lys834Glu)
NM_013352.4(DSE):c.2511A>T (p.Arg837Ser)
NM_013352.4(DSE):c.2542C>G (p.Leu848Val)
NM_013352.4(DSE):c.2546C>A (p.Pro849His)
NM_013352.4(DSE):c.2582A>G (p.Asp861Gly) rs2115099078
NM_013352.4(DSE):c.2602G>A (p.Glu868Lys)
NM_013352.4(DSE):c.2619G>A (p.Gly873=)
NM_013352.4(DSE):c.2619_2621del (p.Gly874del) rs111252008
NM_013352.4(DSE):c.2622C>T (p.Gly874=)
NM_013352.4(DSE):c.2635C>G (p.Arg879Gly) rs113277624
NM_013352.4(DSE):c.2635C>T (p.Arg879Trp) rs113277624
NM_013352.4(DSE):c.2637G>A (p.Arg879=)
NM_013352.4(DSE):c.2641G>A (p.Gly881Arg)
NM_013352.4(DSE):c.2646G>A (p.Gln882=) rs2115099368
NM_013352.4(DSE):c.264C>G (p.Pro88=)
NM_013352.4(DSE):c.2650C>T (p.Arg884Trp)
NM_013352.4(DSE):c.2675G>C (p.Arg892Thr)
NM_013352.4(DSE):c.2693C>G (p.Ala898Gly)
NM_013352.4(DSE):c.277G>A (p.Asp93Asn) rs2114995361
NM_013352.4(DSE):c.2799del (p.Arg933fs) rs1339083714
NM_013352.4(DSE):c.27C>A (p.Pro9=)
NM_013352.4(DSE):c.2812G>T (p.Val938Phe)
NM_013352.4(DSE):c.2838A>G (p.Leu946=)
NM_013352.4(DSE):c.2843G>A (p.Trp948Ter)
NM_013352.4(DSE):c.325T>G (p.Leu109Val) rs1781471216
NM_013352.4(DSE):c.331A>G (p.Met111Val) rs866132678
NM_013352.4(DSE):c.33G>A (p.Val11=)
NM_013352.4(DSE):c.340G>T (p.Val114Leu)
NM_013352.4(DSE):c.34T>A (p.Phe12Ile)
NM_013352.4(DSE):c.355A>C (p.Asn119His) rs1583172956
NM_013352.4(DSE):c.357C>T (p.Asn119=)
NM_013352.4(DSE):c.364G>A (p.Ala122Thr) rs1781474657
NM_013352.4(DSE):c.420G>C (p.Leu140Phe)
NM_013352.4(DSE):c.447C>T (p.Val149=)
NM_013352.4(DSE):c.480del (p.Ala161fs)
NM_013352.4(DSE):c.53G>A (p.Cys18Tyr) rs76186865
NM_013352.4(DSE):c.59T>G (p.Val20Gly)
NM_013352.4(DSE):c.5G>A (p.Arg2Lys)
NM_013352.4(DSE):c.611A>G (p.Asn204Ser) rs2115065124
NM_013352.4(DSE):c.647G>T (p.Gly216Val)
NM_013352.4(DSE):c.670+18C>T
NM_013352.4(DSE):c.670+20A>G
NM_013352.4(DSE):c.681A>G (p.Gln227=)
NM_013352.4(DSE):c.69C>T (p.Tyr23=)
NM_013352.4(DSE):c.701A>G (p.Lys234Arg)
NM_013352.4(DSE):c.714C>T (p.Thr238=)
NM_013352.4(DSE):c.718A>G (p.Met240Val)
NM_013352.4(DSE):c.780G>T (p.Ala260=)
NM_013352.4(DSE):c.78C>A (p.Asp26Glu)
NM_013352.4(DSE):c.78C>T (p.Asp26=) rs146524076
NM_013352.4(DSE):c.807C>T (p.Leu269=)
NM_013352.4(DSE):c.826G>A (p.Val276Ile)
NM_013352.4(DSE):c.863C>T (p.Pro288Leu)
NM_013352.4(DSE):c.8C>A (p.Thr3Asn) rs1164317142
NM_013352.4(DSE):c.910+10G>A
NM_013352.4(DSE):c.910+8G>A
NM_013352.4(DSE):c.910+9A>C
NM_013352.4(DSE):c.945T>C (p.Asn315=)
NM_013352.4(DSE):c.966A>G (p.Pro322=)
NM_013352.4(DSE):c.975A>G (p.Gln325=)
NM_013352.4(DSE):c.981G>A (p.Val327=) rs951430479
NM_130468.4(CHST14):c.1004G>T (p.Ser335Ile)
NM_130468.4(CHST14):c.1016A>G (p.His339Arg)
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp) rs372422727
NM_130468.4(CHST14):c.1033del (p.Arg345fs)
NM_130468.4(CHST14):c.1038C>T (p.Ala346=)
NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)
NM_130468.4(CHST14):c.1062G>A (p.Lys354=)
NM_130468.4(CHST14):c.1081C>G (p.Leu361Val) rs1566969372
NM_130468.4(CHST14):c.1086T>C (p.Phe362=) rs2141571343
NM_130468.4(CHST14):c.1101T>C (p.Pro367=) rs1189242847
NM_130468.4(CHST14):c.1104T>C (p.Asn368=) rs1351942431
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser) rs748434505
NM_130468.4(CHST14):c.111G>T (p.Pro37=)
NM_130468.4(CHST14):c.114C>G (p.Pro38=) rs2141570382
NM_130468.4(CHST14):c.117G>A (p.Leu39=) rs2141570389
NM_130468.4(CHST14):c.130A>G (p.Met44Val) rs1043447552
NM_130468.4(CHST14):c.135G>C (p.Leu45=)
NM_130468.4(CHST14):c.148A>T (p.Ile50Phe) rs1046833753
NM_130468.4(CHST14):c.151G>A (p.Val51Met) rs199749498
NM_130468.4(CHST14):c.155C>T (p.Ala52Val)
NM_130468.4(CHST14):c.156_166del (p.Ser53fs) rs1293915082
NM_130468.4(CHST14):c.160dup (p.Ser54fs) rs1566969054
NM_130468.4(CHST14):c.18G>T (p.Leu6=)
NM_130468.4(CHST14):c.202A>G (p.Met68Val)
NM_130468.4(CHST14):c.216C>T (p.Pro72=)
NM_130468.4(CHST14):c.228C>A (p.Pro76=)
NM_130468.4(CHST14):c.234C>G (p.Arg78=)
NM_130468.4(CHST14):c.245C>G (p.Ala82Gly) rs1475453618
NM_130468.4(CHST14):c.255G>A (p.Gly85=) rs2141570543
NM_130468.4(CHST14):c.264del (p.Lys89fs)
NM_130468.4(CHST14):c.275G>T (p.Gly92Val) rs754720949
NM_130468.4(CHST14):c.295G>A (p.Asp99Asn) rs1354036515
NM_130468.4(CHST14):c.299C>T (p.Ala100Val)
NM_130468.4(CHST14):c.2T>C (p.Met1Thr)
NM_130468.4(CHST14):c.303C>T (p.Asp101=) rs2141570597
NM_130468.4(CHST14):c.312G>T (p.Val104=)
NM_130468.4(CHST14):c.315G>T (p.Arg105=)
NM_130468.4(CHST14):c.315del (p.Gln106fs)
NM_130468.4(CHST14):c.336C>G (p.Thr112=)
NM_130468.4(CHST14):c.382G>C (p.Asp128His)
NM_130468.4(CHST14):c.409C>T (p.Leu137=) rs2141570724
NM_130468.4(CHST14):c.427G>A (p.Val143Ile)
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) rs1007569346
NM_130468.4(CHST14):c.43G>C (p.Ala15Pro) rs1235160320
NM_130468.4(CHST14):c.448C>G (p.Leu150Val) rs2141570771
NM_130468.4(CHST14):c.462C>T (p.Val154=) rs1478974228
NM_130468.4(CHST14):c.468G>C (p.Lys156Asn) rs1555410748
NM_130468.4(CHST14):c.486G>A (p.Trp162Ter)
NM_130468.4(CHST14):c.48G>A (p.Glu16=)
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser) rs1894350607
NM_130468.4(CHST14):c.513C>T (p.Gly171=)
NM_130468.4(CHST14):c.516C>T (p.Val172=)
NM_130468.4(CHST14):c.527_530delinsGACAG (p.Val176fs) rs1595869467
NM_130468.4(CHST14):c.536G>A (p.Arg179His)
NM_130468.4(CHST14):c.536G>C (p.Arg179Pro) rs756707600
NM_130468.4(CHST14):c.609G>T (p.Leu203=) rs2141570922
NM_130468.4(CHST14):c.612G>T (p.Gln204His) rs1894353008
NM_130468.4(CHST14):c.628C>G (p.Leu210Val) rs1894353259
NM_130468.4(CHST14):c.629T>C (p.Leu210Pro)
NM_130468.4(CHST14):c.642G>C (p.Glu214Asp) rs146662235
NM_130468.4(CHST14):c.651A>G (p.Glu217=)
NM_130468.4(CHST14):c.65T>C (p.Leu22Pro)
NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe) rs1894354295
NM_130468.4(CHST14):c.676_682delinsGCTATGGGGCT (p.Lys226fs)
NM_130468.4(CHST14):c.681T>C (p.Phe227=)
NM_130468.4(CHST14):c.686A>G (p.Glu229Gly) rs1043019552
NM_130468.4(CHST14):c.692G>A (p.Arg231Gln) rs751335857
NM_130468.4(CHST14):c.693A>T (p.Arg231=)
NM_130468.4(CHST14):c.704A>G (p.Gln235Arg) rs532315121
NM_130468.4(CHST14):c.714G>C (p.Gly238=)
NM_130468.4(CHST14):c.729G>T (p.Arg243Ser) rs1894355892
NM_130468.4(CHST14):c.747G>T (p.Ala249=)
NM_130468.4(CHST14):c.750G>T (p.Gly250=) rs1402353708
NM_130468.4(CHST14):c.755_851del (p.Ser252fs) rs1555410768
NM_130468.4(CHST14):c.763G>C (p.Gly255Arg) rs2141571079
NM_130468.4(CHST14):c.783del (p.Glu262fs)
NM_130468.4(CHST14):c.834T>C (p.His278=)
NM_130468.4(CHST14):c.846G>A (p.Val282=)
NM_130468.4(CHST14):c.846G>C (p.Val282=) rs139191820
NM_130468.4(CHST14):c.849C>T (p.Tyr283=) rs1438289059
NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)
NM_130468.4(CHST14):c.90C>A (p.Ala30=)
NM_130468.4(CHST14):c.935G>T (p.Trp312Leu)
NM_130468.4(CHST14):c.948A>G (p.Pro316=)
NM_130468.4(CHST14):c.977C>T (p.Ala326Val) rs1234827728
NM_130468.4(CHST14):c.984C>T (p.Tyr328=) rs747403269
NM_130468.4(CHST14):c.999C>T (p.Pro333=)

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