ClinVar Miner

List of variants studied for capillary malformation by Invitae

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2896
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.314-35A>G rs2071219 0.46706
NM_000020.3(ACVRL1):c.313+11C>T rs2071218 0.45979
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_000020.3(ACVRL1):c.1378-155T>G rs2277383 0.08548
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563 0.04166
NM_002890.3(RASA1):c.1777-14T>A rs36000817 0.03681
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_002890.3(RASA1):c.1777-16A>T rs75512926 0.02314
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=) rs77341011 0.01461
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113 0.01212
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_002890.3(RASA1):c.1777-15_1777-14insA rs202147617 0.00998
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.1246+19C>T rs185343653 0.00959
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744 0.00958
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_000020.3(ACVRL1):c.772+24C>T rs151169686 0.00421
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_002890.3(RASA1):c.1777-16del rs747412034 0.00322
NM_002890.3(RASA1):c.304G>T (p.Val102Leu) rs115606026 0.00315
NM_001114753.3(ENG):c.1452C>T (p.Ser484=) rs115450389 0.00311
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982 0.00278
NM_002890.3(RASA1):c.829-12T>A rs187379673 0.00276
NM_002890.3(RASA1):c.1102+10T>C rs150779406 0.00268
NM_002890.3(RASA1):c.2691-11C>T rs149730288 0.00264
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293 0.00208
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001114753.3(ENG):c.732C>T (p.Pro244=) rs112262663 0.00124
NM_002890.3(RASA1):c.384C>T (p.Leu128=) rs34385096 0.00121
NM_001114753.3(ENG):c.179C>A (p.Ala60Asp) rs146100407 0.00117
NM_001114753.3(ENG):c.180C>A (p.Ala60=) rs146188464 0.00117
NM_001114753.3(ENG):c.524-12G>A rs142841129 0.00116
NM_001114753.3(ENG):c.524-15C>T rs201463582 0.00114
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe) rs144456901 0.00113
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084 0.00096
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn) rs142402214 0.00096
NM_001114753.3(ENG):c.225G>A (p.Pro75=) rs116146060 0.00091
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=) rs140970131 0.00090
NM_000020.3(ACVRL1):c.484C>T (p.Leu162Phe) rs76038779 0.00088
NM_001114753.3(ENG):c.1419C>T (p.Ser473=) rs561818608 0.00087
NM_016204.4(GDF2):c.346+10C>T rs117345807 0.00081
NM_001114753.3(ENG):c.-186G>A rs569618819 0.00080
NM_001114753.3(ENG):c.-54C>A rs2296702 0.00080
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala) rs201393380 0.00080
NM_000020.3(ACVRL1):c.313+40G>C rs376033978 0.00078
NM_016204.4(GDF2):c.1017C>T (p.Ile339=) rs148730910 0.00078
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001114753.3(ENG):c.234G>A (p.Leu78=) rs115675061 0.00076
NM_001114753.3(ENG):c.816+12G>A rs115316938 0.00076
NM_001114753.3(ENG):c.-158C>T rs41470844 0.00075
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp) rs201502793 0.00073
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831 0.00071
NM_002890.3(RASA1):c.1103-17C>T rs200562377 0.00066
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395 0.00061
NM_000020.3(ACVRL1):c.1247-15A>G rs186868158 0.00056
NM_001114753.3(ENG):c.159C>T (p.Cys53=) rs148475405 0.00056
NM_001114753.3(ENG):c.1407G>A (p.Pro469=) rs41302657 0.00048
NM_001114753.3(ENG):c.1455G>A (p.Glu485=) rs150456852 0.00046
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=) rs139008591 0.00045
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
NM_001114753.3(ENG):c.1233C>T (p.Ser411=) rs137870512 0.00043
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_001114753.3(ENG):c.687C>T (p.Ala229=) rs376919650 0.00042
NM_000020.3(ACVRL1):c.329C>T (p.Ser110Leu) rs143872998 0.00041
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) rs147005473 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_016204.4(GDF2):c.34C>T (p.Leu12=) rs61758973 0.00040
NM_002890.3(RASA1):c.1935-3T>C rs201249348 0.00039
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp) rs145635235 0.00038
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_000020.3(ACVRL1):c.666C>T (p.His222=) rs377194545 0.00034
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile) rs141330288 0.00034
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_002890.3(RASA1):c.1777-13T>A rs757898803 0.00034
NM_002890.3(RASA1):c.2926-8C>T rs369251473 0.00032
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499 0.00031
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056 0.00031
NM_002890.3(RASA1):c.2487+13T>A rs372369767 0.00031
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276 0.00031
NM_002890.3(RASA1):c.2286C>T (p.His762=) rs373059169 0.00030
NM_001114753.3(ENG):c.1258A>G (p.Met420Val) rs143724056 0.00029
NM_016204.4(GDF2):c.615G>A (p.Leu205=) rs141350776 0.00029
NM_001114753.3(ENG):c.-63C>T rs886063476 0.00028
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
NM_001114753.3(ENG):c.1095C>T (p.Asp365=) rs142803546 0.00026
NM_001114753.3(ENG):c.1312-12G>A rs201684408 0.00026
NM_002890.3(RASA1):c.2766A>T (p.Pro922=) rs137898246 0.00025
NM_002890.3(RASA1):c.347T>C (p.Leu116Pro) rs145201086 0.00025
NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=) rs187902433 0.00024
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=) rs55802125 0.00024
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu) rs151296940 0.00024
NM_001114753.3(ENG):c.-120G>T rs565259710 0.00022
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=) rs375679140 0.00021
NM_001114753.3(ENG):c.1742-13C>T rs373611252 0.00021
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser) rs199840979 0.00021
NM_016204.4(GDF2):c.1290G>A (p.Ter430=) rs139568056 0.00021
NM_001114753.3(ENG):c.-70C>T rs562538400 0.00020
NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu) rs199542304 0.00019
NM_001114753.3(ENG):c.1686+6T>G rs369766351 0.00019
NM_001114753.3(ENG):c.250G>C (p.Ala84Pro) rs369456364 0.00019
NM_001114753.3(ENG):c.954G>A (p.Pro318=) rs149590262 0.00019
NM_001114753.3(ENG):c.1134+9A>T rs200780733 0.00018
NM_002890.3(RASA1):c.1041A>G (p.Glu347=) rs765138678 0.00018
NM_016204.4(GDF2):c.315G>A (p.Ala105=) rs145198623 0.00018
NM_001114753.3(ENG):c.-188G>A rs961480381 0.00017
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His) rs141764916 0.00016
NM_001114753.3(ENG):c.291G>C (p.Leu97=) rs376641299 0.00016
NM_001114753.3(ENG):c.595C>T (p.Arg199Cys) rs752195587 0.00016
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_001114753.3(ENG):c.321G>T (p.Leu107=) rs767907933 0.00015
NM_001114753.3(ENG):c.322C>T (p.His108Tyr) rs756897517 0.00015
NM_002890.3(RASA1):c.2033G>A (p.Ser678Asn) rs192308897 0.00015
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) rs200372420 0.00014
NM_002890.3(RASA1):c.2470A>T (p.Ser824Cys) rs151119180 0.00014
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=) rs143735377 0.00013
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00013
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile) rs372453075 0.00013
NM_002890.3(RASA1):c.1254-4A>T rs369061989 0.00013
NM_001114753.3(ENG):c.306C>T (p.Asn102=) rs148098047 0.00012
NM_001114753.3(ENG):c.360+91C>T rs371908386 0.00012
NM_001114753.3(ENG):c.726C>T (p.Cys242=) rs545465750 0.00012
NM_002890.3(RASA1):c.1332+8T>C rs376637789 0.00012
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser) rs775315018 0.00012
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) rs139380315 0.00011
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=) rs56379428 0.00011
NM_001114753.3(ENG):c.1135-8C>T rs79426098 0.00011
NM_002890.3(RASA1):c.1102+12T>C rs555470550 0.00011
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val) rs113316011 0.00011
NM_016204.4(GDF2):c.244A>G (p.Arg82Gly) rs559902146 0.00011
NM_000020.3(ACVRL1):c.664C>T (p.His222Tyr) rs746715195 0.00010
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys) rs372045549 0.00010
NM_002890.3(RASA1):c.2773A>G (p.Ile925Val) rs140786299 0.00010
NM_002890.3(RASA1):c.3085A>G (p.Ile1029Val) rs377550978 0.00010
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu) rs180821007 0.00010
NM_000020.3(ACVRL1):c.1134C>T (p.Pro378=) rs147021958 0.00009
NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe) rs141653630 0.00009
NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569 0.00009
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098 0.00009
NM_001114753.3(ENG):c.1040A>G (p.Lys347Arg) rs150829904 0.00009
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val) rs143054595 0.00009
NM_002890.3(RASA1):c.1209A>G (p.Pro403=) rs367991324 0.00009
NM_002890.3(RASA1):c.1494G>A (p.Glu498=) rs200197533 0.00009
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106 0.00009
NM_002890.3(RASA1):c.2925+12G>C rs369502267 0.00009
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736 0.00009
NM_016204.4(GDF2):c.711C>T (p.Cys237=) rs146775536 0.00009
NM_016204.4(GDF2):c.774C>T (p.Ser258=) rs202125220 0.00009
NM_016204.4(GDF2):c.930G>A (p.Ala310=) rs200838331 0.00009
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=) rs774167132 0.00008
NM_001114753.3(ENG):c.1015G>A (p.Ala339Thr) rs761463410 0.00008
NM_001114753.3(ENG):c.1098C>T (p.Asp366=) rs201497772 0.00008
NM_001114753.3(ENG):c.1135-7G>A rs201359896 0.00008
NM_001114753.3(ENG):c.1259T>C (p.Met420Thr) rs766272638 0.00008
NM_001114753.3(ENG):c.1852+21C>G rs147188969 0.00008
NM_001114753.3(ENG):c.634G>A (p.Val212Met) rs370652082 0.00008
NM_001114753.3(ENG):c.690-4G>A rs762621671 0.00008
NM_002890.3(RASA1):c.2488-20T>G rs369400038 0.00008
NM_002890.3(RASA1):c.319G>C (p.Val107Leu) rs138308013 0.00008
NM_002890.3(RASA1):c.346C>G (p.Leu116Val) rs149246093 0.00008
NM_016204.4(GDF2):c.1112C>T (p.Thr371Met) rs782198119 0.00008
NM_016204.4(GDF2):c.1207G>A (p.Val403Ile) rs367957332 0.00008
NM_016204.4(GDF2):c.903G>A (p.Glu301=) rs199937159 0.00008
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys) rs199675436 0.00007
NM_001114753.3(ENG):c.1712G>A (p.Arg571His) rs138799379 0.00007
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile) rs201768056 0.00007
NM_001114753.3(ENG):c.690-17C>T rs199525659 0.00007
NM_002890.3(RASA1):c.190G>A (p.Gly64Arg) rs777805156 0.00007
NM_016204.4(GDF2):c.847G>A (p.Val283Met) rs138904328 0.00007
NM_016204.4(GDF2):c.933G>A (p.Gly311=) rs375969347 0.00007
NM_000020.3(ACVRL1):c.1360C>T (p.Arg454Trp) rs373133784 0.00006
NM_000020.3(ACVRL1):c.294C>T (p.Asn98=) rs141429164 0.00006
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile) rs138048445 0.00006
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751 0.00006
NM_000020.3(ACVRL1):c.786A>G (p.Ser262=) rs200320649 0.00006
NM_001114753.3(ENG):c.-76C>T rs943786398 0.00006
NM_001114753.3(ENG):c.1446C>T (p.Ser482=) rs143945873 0.00006
NM_001114753.3(ENG):c.1695T>C (p.His565=) rs750637713 0.00006
NM_001114753.3(ENG):c.1852+42C>T rs779974705 0.00006
NM_001114753.3(ENG):c.360C>T (p.Tyr120=) rs121918402 0.00006
NM_002890.3(RASA1):c.1408G>A (p.Ala470Thr) rs144748261 0.00006
NM_002890.3(RASA1):c.1409C>G (p.Ala470Gly) rs199894378 0.00006
NM_002890.3(RASA1):c.1968A>T (p.Ile656=) rs370819852 0.00006
NM_002890.3(RASA1):c.3132T>C (p.Asn1044=) rs149297860 0.00006
NM_002890.3(RASA1):c.396C>T (p.Gly132=) rs898128418 0.00006
NM_016204.4(GDF2):c.654C>T (p.Asp218=) rs782545137 0.00006
NM_016204.4(GDF2):c.861G>C (p.Leu287=) rs1189713032 0.00006
NM_016204.4(GDF2):c.901G>A (p.Glu301Lys) rs41314469 0.00006
NM_000020.3(ACVRL1):c.1104G>A (p.Pro368=) rs147885255 0.00005
NM_000020.3(ACVRL1):c.111G>A (p.Glu37=) rs781586192 0.00005
NM_001114753.3(ENG):c.-126G>A rs940261789 0.00005
NM_001114753.3(ENG):c.1252G>C (p.Ala418Pro) rs150293362 0.00005
NM_001114753.3(ENG):c.1273-4G>A rs373308042 0.00005
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266 0.00005
NM_001114753.3(ENG):c.1632C>T (p.Thr544=) rs117510900 0.00005
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721 0.00005
NM_001114753.3(ENG):c.218C>T (p.Thr73Met) rs200960408 0.00005
NM_001114753.3(ENG):c.654G>A (p.Ala218=) rs773156160 0.00005
NM_001114753.3(ENG):c.689+17G>A rs773103359 0.00005
NM_002890.3(RASA1):c.1722A>G (p.Ala574=) rs200157130 0.00005
NM_002890.3(RASA1):c.1935-16C>T rs780047662 0.00005
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036 0.00005
NM_002890.3(RASA1):c.259A>T (p.Thr87Ser) rs147942393 0.00005
NM_002890.3(RASA1):c.404C>G (p.Pro135Arg) rs770426834 0.00005
NM_016204.4(GDF2):c.203G>A (p.Arg68His) rs200330818 0.00005
NM_016204.4(GDF2):c.231G>A (p.Ser77=) rs782105568 0.00005
NM_000020.3(ACVRL1):c.526-11C>T rs573934792 0.00004
NM_000020.3(ACVRL1):c.5C>T (p.Thr2Ile) rs373062714 0.00004
NM_000020.3(ACVRL1):c.699G>A (p.Ser233=) rs149508813 0.00004
NM_000020.3(ACVRL1):c.840C>T (p.His280=) rs146188863 0.00004
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp) rs145300204 0.00004
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786 0.00004
NM_001114753.3(ENG):c.112G>A (p.Glu38Lys) rs747481834 0.00004
NM_001114753.3(ENG):c.1134+92G>A rs1194091413 0.00004
NM_001114753.3(ENG):c.1312-13C>T rs770902350 0.00004
NM_001114753.3(ENG):c.1389C>T (p.Ala463=) rs200168633 0.00004
NM_001114753.3(ENG):c.1437G>A (p.Val479=) rs754600063 0.00004
NM_001114753.3(ENG):c.1682A>C (p.Asp561Ala) rs375965489 0.00004
NM_001114753.3(ENG):c.1686+18C>T rs767620198 0.00004
NM_001114753.3(ENG):c.1686+19G>A rs201163068 0.00004
NM_001114753.3(ENG):c.1742-15G>A rs201678228 0.00004
NM_001114753.3(ENG):c.1761C>T (p.Leu587=) rs546872552 0.00004
NM_001114753.3(ENG):c.1851G>A (p.Thr617=) rs747344646 0.00004
NM_001114753.3(ENG):c.220-16C>T rs748668677 0.00004
NM_001114753.3(ENG):c.413T>C (p.Leu138Pro) rs546637270 0.00004
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658 0.00004
NM_001114753.3(ENG):c.705G>A (p.Thr235=) rs755116051 0.00004
NM_001114753.3(ENG):c.727G>A (p.Ala243Thr) rs761827492 0.00004
NM_001114753.3(ENG):c.742G>A (p.Asp248Asn) rs775160533 0.00004
NM_001114753.3(ENG):c.747C>T (p.Ala249=) rs557060922 0.00004
NM_001114753.3(ENG):c.817-27_817-26del rs761699139 0.00004
NM_001114753.3(ENG):c.817-8A>G rs753576292 0.00004
NM_001114753.3(ENG):c.9C>T (p.Arg3=) rs752431673 0.00004
NM_002890.3(RASA1):c.1017+13C>T rs779299337 0.00004
NM_002890.3(RASA1):c.1350C>G (p.Leu450=) rs780071686 0.00004
NM_002890.3(RASA1):c.1352A>G (p.Asn451Ser) rs529871259 0.00004
NM_002890.3(RASA1):c.1373A>C (p.Glu458Ala) rs772447424 0.00004
NM_002890.3(RASA1):c.1735C>T (p.Arg579Trp) rs770599456 0.00004
NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys) rs370631681 0.00004
NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala) rs759711265 0.00004
NM_002890.3(RASA1):c.2138C>G (p.Ser713Cys) rs745960407 0.00004
NM_002890.3(RASA1):c.2266C>T (p.Leu756=) rs776305383 0.00004
NM_002890.3(RASA1):c.2337C>T (p.Ser779=) rs758662266 0.00004
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033 0.00004
NM_002890.3(RASA1):c.3120T>C (p.Tyr1040=) rs538998012 0.00004
NM_002890.3(RASA1):c.370C>T (p.Leu124Phe) rs200883284 0.00004
NM_002890.3(RASA1):c.467G>T (p.Gly156Val) rs373892264 0.00004
NM_002890.3(RASA1):c.474T>C (p.Ser158=) rs148256526 0.00004
NM_002890.3(RASA1):c.617T>C (p.Ile206Thr) rs182498192 0.00004
NM_002890.3(RASA1):c.89A>G (p.Tyr30Cys) rs376663338 0.00004
NM_016204.4(GDF2):c.478G>A (p.Val160Met) rs144705412 0.00004
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993 0.00004
NM_016204.4(GDF2):c.73C>T (p.Leu25=) rs200760960 0.00004
NM_016204.4(GDF2):c.750C>A (p.Asn250Lys) rs782092613 0.00004
NM_000020.3(ACVRL1):c.1161G>A (p.Thr387=) rs150140878 0.00003
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn) rs1231598304 0.00003
NM_000020.3(ACVRL1):c.1376C>T (p.Pro459Leu) rs767764795 0.00003
NM_000020.3(ACVRL1):c.1406G>A (p.Arg469Gln) rs200459424 0.00003
NM_000020.3(ACVRL1):c.303G>C (p.Leu101=) rs376417482 0.00003
NM_000020.3(ACVRL1):c.518T>C (p.Met173Thr) rs754813319 0.00003
NM_000020.3(ACVRL1):c.858C>T (p.Tyr286=) rs542810348 0.00003
NM_001114753.3(ENG):c.1020G>A (p.Pro340=) rs773748110 0.00003
NM_001114753.3(ENG):c.1067T>A (p.Met356Lys) rs138190783 0.00003
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn) rs548690138 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001114753.3(ENG):c.1299A>G (p.Ser433=) rs762387524 0.00003
NM_001114753.3(ENG):c.1323C>T (p.His441=) rs751203937 0.00003
NM_001114753.3(ENG):c.1671C>T (p.Thr557=) rs369135742 0.00003
NM_001114753.3(ENG):c.1672G>A (p.Gly558Arg) rs373230507 0.00003
NM_001114753.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141 0.00003
NM_001114753.3(ENG):c.242C>A (p.Thr81Asn) rs1413416433 0.00003
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837 0.00003
NM_001114753.3(ENG):c.405C>G (p.Thr135=) rs773521685 0.00003
NM_001114753.3(ENG):c.45C>G (p.Ala15=) rs768137759 0.00003
NM_001114753.3(ENG):c.524-13C>T rs756926952 0.00003
NM_001114753.3(ENG):c.524-14G>A rs371420421 0.00003
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp) rs780987528 0.00003
NM_001114753.3(ENG):c.593C>T (p.Pro198Leu) rs777633247 0.00003
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe) rs763087751 0.00003
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu) rs781715616 0.00003
NM_001114753.3(ENG):c.690-5C>T rs374628465 0.00003
NM_001114753.3(ENG):c.69T>C (p.Ser23=) rs202048202 0.00003
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala) rs1370586541 0.00003
NM_001114753.3(ENG):c.900G>A (p.Leu300=) rs140155568 0.00003
NM_001114753.3(ENG):c.999G>A (p.Arg333=) rs371174838 0.00003
NM_002890.3(RASA1):c.1018-18T>C rs534160838 0.00003
NM_002890.3(RASA1):c.105G>T (p.Arg35=) rs780829562 0.00003
NM_002890.3(RASA1):c.1280G>A (p.Arg427Gln) rs755634472 0.00003
NM_002890.3(RASA1):c.1332+20T>C rs374993077 0.00003
NM_002890.3(RASA1):c.1593T>C (p.His531=) rs368416407 0.00003
NM_002890.3(RASA1):c.1777-12T>A rs933452101 0.00003
NM_002890.3(RASA1):c.2300C>T (p.Ser767Leu) rs763915835 0.00003
NM_002890.3(RASA1):c.2344+4T>C rs919731021 0.00003
NM_002890.3(RASA1):c.2648A>G (p.His883Arg) rs372559312 0.00003
NM_002890.3(RASA1):c.2666C>A (p.Thr889Asn) rs767789983 0.00003
NM_002890.3(RASA1):c.2794T>C (p.Leu932=) rs199733745 0.00003
NM_002890.3(RASA1):c.3067T>C (p.Leu1023=) rs3747704 0.00003
NM_002890.3(RASA1):c.48C>A (p.Ala16=) rs566022333 0.00003
NM_002890.3(RASA1):c.566C>T (p.Thr189Met) rs986802785 0.00003
NM_002890.3(RASA1):c.885C>A (p.Asp295Glu) rs145354256 0.00003
NM_016204.4(GDF2):c.1008C>T (p.Phe336=) rs1041318325 0.00003
NM_016204.4(GDF2):c.1110G>A (p.Pro370=) rs534378338 0.00003
NM_016204.4(GDF2):c.646C>T (p.Arg216Trp) rs556004917 0.00003
NM_016204.4(GDF2):c.717G>A (p.Thr239=) rs781821989 0.00003
NM_016204.4(GDF2):c.732C>T (p.Val244=) rs145385373 0.00003
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) rs1555208696 0.00003
NM_000020.3(ACVRL1):c.1173G>A (p.Glu391=) rs750157791 0.00002
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577 0.00002
NM_000020.3(ACVRL1):c.1239C>T (p.Ile413=) rs755557465 0.00002
NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg) rs1439294840 0.00002
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=) rs556168617 0.00002
NM_000020.3(ACVRL1):c.429C>T (p.Val143=) rs762047618 0.00002
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln) rs778058646 0.00002
NM_000020.3(ACVRL1):c.470T>C (p.Leu157Pro) rs1371249289 0.00002
NM_000020.3(ACVRL1):c.511G>A (p.Asp171Asn) rs369436815 0.00002
NM_000020.3(ACVRL1):c.61+7A>T rs200221603 0.00002
NM_000020.3(ACVRL1):c.813G>T (p.Thr271=) rs543884349 0.00002
NM_000020.3(ACVRL1):c.933G>A (p.Ala311=) rs779758131 0.00002
NM_001114753.3(ENG):c.-59C>T rs1003149967 0.00002
NM_001114753.3(ENG):c.1135C>G (p.His379Asp) rs771599199 0.00002
NM_001114753.3(ENG):c.1154C>T (p.Thr385Met) rs199764615 0.00002
NM_001114753.3(ENG):c.1155G>A (p.Thr385=) rs770249062 0.00002
NM_001114753.3(ENG):c.1217G>A (p.Arg406His) rs149065210 0.00002
NM_001114753.3(ENG):c.1311+6A>G rs1060501416 0.00002
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu) rs927607049 0.00002
NM_001114753.3(ENG):c.1529G>A (p.Arg510Gln) rs199629212 0.00002
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg) rs765564489 0.00002
NM_001114753.3(ENG):c.1572C>T (p.Pro524=) rs760682477 0.00002
NM_001114753.3(ENG):c.1710G>T (p.Met570Ile) rs757511675 0.00002
NM_001114753.3(ENG):c.1758C>T (p.Gly586=) rs150566847 0.00002
NM_001114753.3(ENG):c.1806C>T (p.Ile602=) rs373002544 0.00002
NM_001114753.3(ENG):c.1836C>T (p.Tyr612=) rs1449770420 0.00002
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu) rs1169024767 0.00002
NM_001114753.3(ENG):c.393G>A (p.Pro131=) rs760121099 0.00002
NM_001114753.3(ENG):c.512G>A (p.Arg171Gln) rs756980265 0.00002
NM_001114753.3(ENG):c.609G>C (p.Leu203Phe) rs767850408 0.00002
NM_001114753.3(ENG):c.64A>G (p.Thr22Ala) rs764472279 0.00002
NM_001114753.3(ENG):c.686C>A (p.Ala229Asp) rs971190119 0.00002
NM_001114753.3(ENG):c.695G>A (p.Arg232Gln) rs772467926 0.00002
NM_001114753.3(ENG):c.708G>A (p.Val236=) rs780260845 0.00002
NM_001114753.3(ENG):c.722G>A (p.Ser241Asn) rs1060501411 0.00002
NM_001114753.3(ENG):c.733G>A (p.Gly245Arg) rs762569294 0.00002
NM_001114753.3(ENG):c.741C>T (p.Leu247=) rs201457707 0.00002
NM_001114753.3(ENG):c.748G>A (p.Val250Ile) rs759102482 0.00002
NM_001114753.3(ENG):c.774C>T (p.Tyr258=) rs537154767 0.00002
NM_001114753.3(ENG):c.805A>G (p.Met269Val) rs1323617205 0.00002
NM_001114753.3(ENG):c.816+14A>G rs774964688 0.00002
NM_001114753.3(ENG):c.990C>T (p.Cys330=) rs369202854 0.00002
NM_002890.3(RASA1):c.1049+16T>C rs1353303200 0.00002
NM_002890.3(RASA1):c.1103T>G (p.Val368Gly) rs1038459573 0.00002
NM_002890.3(RASA1):c.1152C>T (p.Gly384=) rs144668841 0.00002
NM_002890.3(RASA1):c.1368C>T (p.Gly456=) rs774547215 0.00002
NM_002890.3(RASA1):c.1575T>C (p.Cys525=) rs758578004 0.00002
NM_002890.3(RASA1):c.1736G>A (p.Arg579Gln) rs377099473 0.00002
NM_002890.3(RASA1):c.187G>A (p.Gly63Ser) rs749218158 0.00002
NM_002890.3(RASA1):c.1911A>G (p.Val637=) rs370957991 0.00002
NM_002890.3(RASA1):c.2189T>C (p.Ile730Thr) rs758288921 0.00002
NM_002890.3(RASA1):c.2221T>G (p.Leu741Val) rs200416306 0.00002
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580 0.00002
NM_002890.3(RASA1):c.2301G>A (p.Ser767=) rs751475441 0.00002
NM_002890.3(RASA1):c.2328A>G (p.Arg776=) rs748472598 0.00002
NM_002890.3(RASA1):c.2345-11T>C rs750436800 0.00002
NM_002890.3(RASA1):c.2434C>T (p.His812Tyr) rs778245184 0.00002
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) rs755788420 0.00002
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg) rs553059467 0.00002
NM_002890.3(RASA1):c.2759-18T>G rs371458251 0.00002
NM_002890.3(RASA1):c.2761T>G (p.Ser921Ala) rs775945854 0.00002
NM_002890.3(RASA1):c.39G>T (p.Pro13=) rs969604375 0.00002
NM_002890.3(RASA1):c.442G>T (p.Ala148Ser) rs765405975 0.00002
NM_002890.3(RASA1):c.472T>C (p.Ser158Pro) rs780636400 0.00002
NM_002890.3(RASA1):c.473C>G (p.Ser158Cys) rs200949838 0.00002
NM_002890.3(RASA1):c.62G>A (p.Gly21Asp) rs1436547254 0.00002
NM_002890.3(RASA1):c.68C>G (p.Ala23Gly) rs760944130 0.00002
NM_002890.3(RASA1):c.810C>T (p.Tyr270=) rs748164164 0.00002
NM_002890.3(RASA1):c.848G>A (p.Arg283His) rs753769946 0.00002
NM_002890.3(RASA1):c.854G>A (p.Arg285Gln) rs374823017 0.00002
NM_002890.3(RASA1):c.899+10A>G rs545348240 0.00002
NM_016204.4(GDF2):c.1254C>T (p.Tyr418=) rs782759852 0.00002
NM_016204.4(GDF2):c.326T>C (p.Val109Ala) rs782118500 0.00002
NM_016204.4(GDF2):c.619G>T (p.Val207Leu) rs148262680 0.00002
NM_016204.4(GDF2):c.627C>T (p.Ser209=) rs374479283 0.00002
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro) rs371005117 0.00001
NM_000020.3(ACVRL1):c.1093G>A (p.Gly365Ser) rs749510030 0.00001
NM_000020.3(ACVRL1):c.1098C>T (p.Asn366=) rs779118678 0.00001
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu) rs748123979 0.00001
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000020.3(ACVRL1):c.120T>C (p.His40=) rs745507845 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp) rs768072967 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000020.3(ACVRL1):c.1443C>T (p.Thr481=) rs1219639551 0.00001
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000020.3(ACVRL1):c.18C>G (p.Pro6=) rs778246850 0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405 0.00001
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095 0.00001
NM_000020.3(ACVRL1):c.246C>T (p.Thr82=) rs754476526 0.00001
NM_000020.3(ACVRL1):c.24A>G (p.Lys8=) rs776283937 0.00001
NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu) rs777206350 0.00001
NM_000020.3(ACVRL1):c.525+10T>C rs555706400 0.00001
NM_000020.3(ACVRL1):c.526-10G>A rs771469803 0.00001
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp) rs999380946 0.00001
NM_000020.3(ACVRL1):c.599G>A (p.Arg200Gln) rs1018788708 0.00001
NM_000020.3(ACVRL1):c.780C>T (p.Ile260=) rs911791104 0.00001
NM_000020.3(ACVRL1):c.807G>A (p.Ser269=) rs1332822854 0.00001
NM_000020.3(ACVRL1):c.846C>T (p.His282=) rs574165873 0.00001
NM_000020.3(ACVRL1):c.87C>T (p.Gly29=) rs139486404 0.00001
NM_000020.3(ACVRL1):c.90G>A (p.Pro30=) rs373401329 0.00001
NM_000020.3(ACVRL1):c.918G>C (p.Ala306=) rs1359095143 0.00001
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001114753.3(ENG):c.-91C>T rs1478547011 0.00001
NM_001114753.3(ENG):c.-99C>T rs1488678420 0.00001
NM_001114753.3(ENG):c.1002G>A (p.Leu334=) rs1416672742 0.00001
NM_001114753.3(ENG):c.1008C>T (p.Thr336=) rs766675335 0.00001
NM_001114753.3(ENG):c.1014C>T (p.Pro338=) rs1057522787 0.00001
NM_001114753.3(ENG):c.1055C>T (p.Pro352Leu) rs1356571461 0.00001
NM_001114753.3(ENG):c.1056G>A (p.Pro352=) rs769530262 0.00001
NM_001114753.3(ENG):c.1071C>T (p.Ser357=) rs1305112426 0.00001
NM_001114753.3(ENG):c.108C>T (p.Gly36=) rs748898883 0.00001
NM_001114753.3(ENG):c.1092C>T (p.Ala364=) rs375427398 0.00001
NM_001114753.3(ENG):c.1097A>G (p.Asp366Gly) rs932659087 0.00001
NM_001114753.3(ENG):c.111C>T (p.Pro37=) rs755626994 0.00001
NM_001114753.3(ENG):c.1195A>G (p.Arg399Gly) rs1315317848 0.00001
NM_001114753.3(ENG):c.1273-5C>T rs779103881 0.00001
NM_001114753.3(ENG):c.1274C>T (p.Ala425Val) rs369997021 0.00001
NM_001114753.3(ENG):c.1275G>A (p.Ala425=) rs963830488 0.00001
NM_001114753.3(ENG):c.1293G>A (p.Ser431=) rs774036076 0.00001
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr) rs763594769 0.00001
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001114753.3(ENG):c.1312-10C>T rs1830401278 0.00001
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg) rs755962839 0.00001
NM_001114753.3(ENG):c.1314A>G (p.Lys438=) rs750412250 0.00001
NM_001114753.3(ENG):c.1327C>G (p.Leu443Val) rs375171647 0.00001
NM_001114753.3(ENG):c.1335G>A (p.Met445Ile) rs777564305 0.00001
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr) rs748457491 0.00001
NM_001114753.3(ENG):c.1402G>C (p.Glu468Gln) rs370554511 0.00001
NM_001114753.3(ENG):c.1406C>T (p.Pro469Leu) rs367753784 0.00001
NM_001114753.3(ENG):c.1408G>C (p.Gly470Arg) rs756263325 0.00001
NM_001114753.3(ENG):c.1428+18C>A rs1399497751 0.00001
NM_001114753.3(ENG):c.1428+5C>G rs1564452925 0.00001
NM_001114753.3(ENG):c.1429-5T>C rs777525174 0.00001
NM_001114753.3(ENG):c.1429-9C>T rs370836025 0.00001
NM_001114753.3(ENG):c.1480C>G (p.His494Asp) rs775718026 0.00001
NM_001114753.3(ENG):c.1528C>T (p.Arg510Trp) rs201517535 0.00001
NM_001114753.3(ENG):c.1584G>A (p.Pro528=) rs189572386 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_001114753.3(ENG):c.1592G>A (p.Ser531Asn) rs780884220 0.00001
NM_001114753.3(ENG):c.160G>A (p.Val54Met) rs923794879 0.00001
NM_001114753.3(ENG):c.1611C>T (p.Tyr537=) rs570296266 0.00001
NM_001114753.3(ENG):c.1650G>A (p.Thr550=) rs1425275422 0.00001
NM_001114753.3(ENG):c.1687-7C>T rs756527693 0.00001
NM_001114753.3(ENG):c.1696A>G (p.Arg566Gly) rs1428529909 0.00001
NM_001114753.3(ENG):c.1702G>A (p.Val568Ile) rs781201877 0.00001
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg) rs759341808 0.00001
NM_001114753.3(ENG):c.1742-10C>T rs761244549 0.00001
NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr) rs200080694 0.00001
NM_001114753.3(ENG):c.1774G>A (p.Val592Met) rs756003321 0.00001
NM_001114753.3(ENG):c.1782C>T (p.Gly594=) rs1390519046 0.00001
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met) rs201031046 0.00001
NM_001114753.3(ENG):c.1852+11C>T rs1830300469 0.00001
NM_001114753.3(ENG):c.1852C>T (p.Arg618Cys) rs1346184000 0.00001
NM_001114753.3(ENG):c.185T>A (p.Leu62His) rs1060501424 0.00001
NM_001114753.3(ENG):c.208G>A (p.Glu70Lys) rs1179814153 0.00001
NM_001114753.3(ENG):c.219+12dup rs1448024285 0.00001
NM_001114753.3(ENG):c.219+19G>T rs1348683648 0.00001
NM_001114753.3(ENG):c.219+3G>A rs1419279746 0.00001
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln) rs532649202 0.00001
NM_001114753.3(ENG):c.28G>A (p.Val10Ile) rs1829096799 0.00001
NM_001114753.3(ENG):c.310A>G (p.Ser104Gly) rs757343854 0.00001
NM_001114753.3(ENG):c.344C>T (p.Pro115Leu) rs146987480 0.00001
NM_001114753.3(ENG):c.354G>A (p.Leu118=) rs772534014 0.00001
NM_001114753.3(ENG):c.361-5C>T rs766201542 0.00001
NM_001114753.3(ENG):c.376A>G (p.Thr126Ala) rs1564456742 0.00001
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln) rs770290260 0.00001
NM_001114753.3(ENG):c.470C>T (p.Thr157Ile) rs1388404555 0.00001
NM_001114753.3(ENG):c.48C>G (p.Ser16Arg) rs540893029 0.00001
NM_001114753.3(ENG):c.524-2A>G rs1060501414 0.00001
NM_001114753.3(ENG):c.524-6C>T rs1203177428 0.00001
NM_001114753.3(ENG):c.534_536del (p.Leu179del) rs1285249384 0.00001
NM_001114753.3(ENG):c.539C>T (p.Ser180Phe) rs375025857 0.00001
NM_001114753.3(ENG):c.575G>A (p.Arg192His) rs1029569378 0.00001
NM_001114753.3(ENG):c.576C>T (p.Arg192=) rs1482783820 0.00001
NM_001114753.3(ENG):c.579G>A (p.Thr193=) rs769703434 0.00001
NM_001114753.3(ENG):c.582C>T (p.Leu194=) rs140663846 0.00001
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln) rs770898485 0.00001
NM_001114753.3(ENG):c.594G>A (p.Pro198=) rs568278048 0.00001
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp) rs762209698 0.00001
NM_001114753.3(ENG):c.633C>T (p.Gly211=) rs928192105 0.00001
NM_001114753.3(ENG):c.636G>C (p.Val212=) rs759493966 0.00001
NM_001114753.3(ENG):c.653C>T (p.Ala218Val) rs1435676276 0.00001
NM_001114753.3(ENG):c.67+7G>A rs1455679426 0.00001
NM_001114753.3(ENG):c.675G>A (p.Pro225=) rs757608428 0.00001
NM_001114753.3(ENG):c.68-17G>A rs570198729 0.00001
NM_001114753.3(ENG):c.68-18C>T rs372807542 0.00001
NM_001114753.3(ENG):c.68-9C>G rs200772068 0.00001
NM_001114753.3(ENG):c.680A>G (p.His227Arg) rs377548944 0.00001
NM_001114753.3(ENG):c.684G>A (p.Ser228=) rs368752783 0.00001
NM_001114753.3(ENG):c.689+12G>A rs759600714 0.00001
NM_001114753.3(ENG):c.690-16G>C rs375559067 0.00001
NM_001114753.3(ENG):c.691C>A (p.Pro231Thr) rs769339049 0.00001
NM_001114753.3(ENG):c.698C>T (p.Thr233Met) rs139767471 0.00001
NM_001114753.3(ENG):c.704C>T (p.Thr235Met) rs1361480439 0.00001
NM_001114753.3(ENG):c.754A>T (p.Ile252Phe) rs377377549 0.00001
NM_001114753.3(ENG):c.768C>T (p.Pro256=) rs780493782 0.00001
NM_001114753.3(ENG):c.786C>T (p.Leu262=) rs368800416 0.00001
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn) rs1210433339 0.00001
NM_001114753.3(ENG):c.792C>T (p.Asp264=) rs763763510 0.00001
NM_001114753.3(ENG):c.816+6T>C rs759191907 0.00001
NM_001114753.3(ENG):c.817-5A>G rs765777426 0.00001
NM_001114753.3(ENG):c.831C>T (p.Tyr277=) rs121918400 0.00001
NM_001114753.3(ENG):c.839A>G (p.Lys280Arg) rs774709924 0.00001
NM_001114753.3(ENG):c.841A>G (p.Ile281Val) rs764640510 0.00001
NM_001114753.3(ENG):c.863G>A (p.Arg288His) rs770328302 0.00001
NM_001114753.3(ENG):c.911G>A (p.Arg304Gln) rs753429934 0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met) rs763508329 0.00001
NM_001114753.3(ENG):c.975T>G (p.Leu325=) rs776872127 0.00001
NM_002890.3(RASA1):c.100T>C (p.Cys34Arg) rs757010847 0.00001
NM_002890.3(RASA1):c.1010A>T (p.Glu337Val) rs1396751378 0.00001
NM_002890.3(RASA1):c.1022G>A (p.Arg341Gln) rs759265277 0.00001
NM_002890.3(RASA1):c.1035A>G (p.Pro345=) rs188475610 0.00001
NM_002890.3(RASA1):c.1067T>C (p.Ile356Thr) rs1459576919 0.00001
NM_002890.3(RASA1):c.1073A>G (p.Lys358Arg) rs913909238 0.00001
NM_002890.3(RASA1):c.1076A>T (p.Gln359Leu) rs746551717 0.00001
NM_002890.3(RASA1):c.1102+9A>G rs942850053 0.00001
NM_002890.3(RASA1):c.110A>G (p.Lys37Arg) rs780044015 0.00001
NM_002890.3(RASA1):c.1115G>C (p.Cys372Ser) rs1179465272 0.00001
NM_002890.3(RASA1):c.1126G>A (p.Val376Met) rs749102561 0.00001
NM_002890.3(RASA1):c.115C>G (p.Pro39Ala) rs772125504 0.00001
NM_002890.3(RASA1):c.1172G>A (p.Arg391Gln) rs770469001 0.00001
NM_002890.3(RASA1):c.1239C>T (p.Gly413=) rs752030661 0.00001
NM_002890.3(RASA1):c.124C>T (p.Leu42=) rs1753672813 0.00001
NM_002890.3(RASA1):c.1253+19G>T rs374702293 0.00001
NM_002890.3(RASA1):c.1253+8A>G rs757811116 0.00001
NM_002890.3(RASA1):c.126G>T (p.Leu42=) rs569976773 0.00001
NM_002890.3(RASA1):c.1290G>A (p.Gln430=) rs765869491 0.00001
NM_002890.3(RASA1):c.1305T>C (p.Tyr435=) rs778801311 0.00001
NM_002890.3(RASA1):c.1308T>C (p.Tyr436=) rs747987480 0.00001
NM_002890.3(RASA1):c.1320T>C (p.Pro440=) rs758200534 0.00001
NM_002890.3(RASA1):c.1324C>T (p.Pro442Ser) rs532587037 0.00001
NM_002890.3(RASA1):c.1346T>C (p.Val449Ala) rs1178664330 0.00001
NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe) rs757166432 0.00001
NM_002890.3(RASA1):c.1380T>C (p.Tyr460=) rs761191995 0.00001
NM_002890.3(RASA1):c.1423A>G (p.Ile475Val) rs757154079 0.00001
NM_002890.3(RASA1):c.1453+6T>C rs1352575365 0.00001
NM_002890.3(RASA1):c.1454-6A>C rs1041546774 0.00001
NM_002890.3(RASA1):c.1454-7T>A rs1173346145 0.00001
NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys) rs1580178685 0.00001
NM_002890.3(RASA1):c.1567A>G (p.Ser523Gly) rs1027587049 0.00001
NM_002890.3(RASA1):c.1587C>T (p.Val529=) rs747313927 0.00001
NM_002890.3(RASA1):c.1605T>C (p.Phe535=) rs1459643901 0.00001
NM_002890.3(RASA1):c.1644T>C (p.Phe548=) rs749876769 0.00001
NM_002890.3(RASA1):c.1698+20A>G rs764032034 0.00001
NM_002890.3(RASA1):c.179C>T (p.Thr60Ile) rs779770765 0.00001
NM_002890.3(RASA1):c.17C>T (p.Ala6Val) rs1010729751 0.00001
NM_002890.3(RASA1):c.1809C>T (p.Ala603=) rs746619669 0.00001
NM_002890.3(RASA1):c.1842A>G (p.Pro614=) rs376280581 0.00001
NM_002890.3(RASA1):c.1938T>C (p.Asp646=) rs549861815 0.00001
NM_002890.3(RASA1):c.1970C>T (p.Thr657Ile) rs1206604314 0.00001
NM_002890.3(RASA1):c.2012-11T>A rs774133026 0.00001
NM_002890.3(RASA1):c.2073G>A (p.Leu691=) rs767007141 0.00001
NM_002890.3(RASA1):c.2139T>C (p.Ser713=) rs202220195 0.00001
NM_002890.3(RASA1):c.2149A>G (p.Ile717Val) rs972697183 0.00001
NM_002890.3(RASA1):c.2171G>A (p.Ser724Asn) rs749550641 0.00001
NM_002890.3(RASA1):c.2185-7A>G rs1159798476 0.00001
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) rs1204340475 0.00001
NM_002890.3(RASA1):c.2256G>A (p.Leu752=) rs1388677749 0.00001
NM_002890.3(RASA1):c.2307G>A (p.Leu769=) rs780065565 0.00001
NM_002890.3(RASA1):c.2316A>G (p.Thr772=) rs755166023 0.00001
NM_002890.3(RASA1):c.2333dup (p.Ser779fs) rs1347210621 0.00001
NM_002890.3(RASA1):c.2345-6del rs747443446 0.00001
NM_002890.3(RASA1):c.2365C>T (p.Arg789Ter) rs1463885690 0.00001
NM_002890.3(RASA1):c.2487+20A>G rs185067003 0.00001
NM_002890.3(RASA1):c.248G>C (p.Gly83Ala) rs755788420 0.00001
NM_002890.3(RASA1):c.249A>T (p.Gly83=) rs1015107894 0.00001
NM_002890.3(RASA1):c.2574A>T (p.Lys858Asn) rs771835302 0.00001
NM_002890.3(RASA1):c.2586T>C (p.Ala862=) rs773083852 0.00001
NM_002890.3(RASA1):c.258G>C (p.Leu86=) rs781199990 0.00001
NM_002890.3(RASA1):c.2603+3A>G rs763113460 0.00001
NM_002890.3(RASA1):c.2604-19G>A rs1487801274 0.00001
NM_002890.3(RASA1):c.261_262del (p.Gly89fs) rs1384480619 0.00001
NM_002890.3(RASA1):c.2622T>C (p.Tyr874=) rs759595320 0.00001
NM_002890.3(RASA1):c.2638T>A (p.Ser880Thr) rs878854571 0.00001
NM_002890.3(RASA1):c.2691-6A>T rs745758645 0.00001
NM_002890.3(RASA1):c.2747A>G (p.Asn916Ser) rs765747521 0.00001
NM_002890.3(RASA1):c.2751C>T (p.Ile917=) rs1761888219 0.00001
NM_002890.3(RASA1):c.2759-13A>G rs1761990605 0.00001
NM_002890.3(RASA1):c.2848-4T>C rs778704112 0.00001
NM_002890.3(RASA1):c.2897G>A (p.Arg966His) rs757298110 0.00001
NM_002890.3(RASA1):c.2913A>G (p.Leu971=) rs997491956 0.00001
NM_002890.3(RASA1):c.2925+20G>C rs1290076478 0.00001
NM_002890.3(RASA1):c.2926-14C>T rs886060843 0.00001
NM_002890.3(RASA1):c.2926-16T>A rs750513068 0.00001
NM_002890.3(RASA1):c.2942C>T (p.Pro981Leu) rs772714180 0.00001
NM_002890.3(RASA1):c.3032C>T (p.Thr1011Met) rs770325546 0.00001
NM_002890.3(RASA1):c.3049G>A (p.Gly1017Ser) rs1762319822 0.00001
NM_002890.3(RASA1):c.3061-11C>T rs548241728 0.00001
NM_002890.3(RASA1):c.3061-19C>T rs1454542039 0.00001
NM_002890.3(RASA1):c.3064G>A (p.Val1022Ile) rs373643445 0.00001
NM_002890.3(RASA1):c.3102A>G (p.Gln1034=) rs1462232114 0.00001
NM_002890.3(RASA1):c.3133G>T (p.Asp1045Tyr) rs144524710 0.00001
NM_002890.3(RASA1):c.318T>C (p.Ala106=) rs1753686148 0.00001
NM_002890.3(RASA1):c.338A>T (p.Asp113Val) rs748658296 0.00001
NM_002890.3(RASA1):c.398G>A (p.Gly133Asp) rs1002148193 0.00001
NM_002890.3(RASA1):c.414C>G (p.Pro138=) rs762661391 0.00001
NM_002890.3(RASA1):c.448C>T (p.Leu150Phe) rs370782901 0.00001
NM_002890.3(RASA1):c.453G>T (p.Gly151=) rs778269579 0.00001
NM_002890.3(RASA1):c.480T>C (p.Asp160=) rs749028647 0.00001
NM_002890.3(RASA1):c.508G>A (p.Ala170Thr) rs761820082 0.00001
NM_002890.3(RASA1):c.519G>A (p.Leu173=) rs759689538 0.00001
NM_002890.3(RASA1):c.540-19T>G rs374013466 0.00001
NM_002890.3(RASA1):c.567G>A (p.Thr189=) rs139174054 0.00001
NM_002890.3(RASA1):c.602C>T (p.Ser201Phe) rs760186488 0.00001
NM_002890.3(RASA1):c.616A>G (p.Ile206Val) rs752280214 0.00001
NM_002890.3(RASA1):c.618A>C (p.Ile206=) rs763843462 0.00001
NM_002890.3(RASA1):c.692+17A>G rs1757597491 0.00001
NM_002890.3(RASA1):c.78C>T (p.Gly26=) rs752084710 0.00001
NM_002890.3(RASA1):c.829-7T>C rs750149451 0.00001
NM_002890.3(RASA1):c.909A>G (p.Lys303=) rs765093179 0.00001
NM_002890.3(RASA1):c.917T>C (p.Met306Thr) rs757272694 0.00001
NM_002890.3(RASA1):c.992T>C (p.Ile331Thr) rs756457101 0.00001
NM_016204.4(GDF2):c.1040C>T (p.Ala347Val) rs782452633 0.00001
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) rs1486994359 0.00001
NM_016204.4(GDF2):c.1068T>C (p.Cys356=) rs781876898 0.00001
NM_016204.4(GDF2):c.1098C>T (p.Asp366=) rs781981224 0.00001
NM_016204.4(GDF2):c.1104G>A (p.Val368=) rs782031068 0.00001
NM_016204.4(GDF2):c.1125C>A (p.Ile375=) rs782554928 0.00001
NM_016204.4(GDF2):c.1255G>A (p.Glu419Lys) rs782137039 0.00001
NM_016204.4(GDF2):c.1266C>T (p.Ser422=) rs782465391 0.00001
NM_016204.4(GDF2):c.1281G>T (p.Gly427=) rs781842184 0.00001
NM_016204.4(GDF2):c.129G>T (p.Val43=) rs764356554 0.00001
NM_016204.4(GDF2):c.252G>A (p.Glu84=) rs1410431494 0.00001
NM_016204.4(GDF2):c.273C>T (p.Asp91=) rs781965686 0.00001
NM_016204.4(GDF2):c.286T>C (p.Tyr96His) rs142466901 0.00001
NM_016204.4(GDF2):c.303G>A (p.Ser101=) rs782482281 0.00001
NM_016204.4(GDF2):c.329G>A (p.Arg110Gln) rs1443463485 0.00001
NM_016204.4(GDF2):c.346+19C>A rs538288079 0.00001
NM_016204.4(GDF2):c.41C>G (p.Ser14Cys) rs1190807654 0.00001
NM_016204.4(GDF2):c.514A>G (p.Ile172Val) rs201712167 0.00001
NM_016204.4(GDF2):c.637C>T (p.Arg213Cys) rs1555208917 0.00001
NM_016204.4(GDF2):c.64G>A (p.Gly22Arg) rs1555208692 0.00001
NM_016204.4(GDF2):c.687T>C (p.Thr229=) rs1555208934 0.00001
NM_016204.4(GDF2):c.714C>T (p.Asp238=) rs782288867 0.00001
NM_016204.4(GDF2):c.792G>C (p.Gly264=) rs781907754 0.00001
NM_016204.4(GDF2):c.825del (p.Met275fs) rs1555209009 0.00001
NM_016204.4(GDF2):c.870C>T (p.Asp290=) rs782675565 0.00001
NM_016204.4(GDF2):c.936G>A (p.Ser312=) rs782232499 0.00001
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp) rs559992144 0.00001
NM_016204.4(GDF2):c.960C>T (p.Ser320=) rs782203502 0.00001
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080 0.00001
NC_000005.10:g.(?_87268432)_(87353255_?)del
NC_000005.10:g.(?_87268442)_(87353245_?)del
NC_000005.10:g.(?_87390790)_(87390893_?)del
NC_000005.9:g.(?_86564269)_(86564827_?)del
NC_000005.9:g.(?_86564269)_(86564827_?)dup
NC_000005.9:g.(?_86564269)_(86649072_?)dup
NC_000005.9:g.(?_86564269)_(86659341_?)del
NC_000005.9:g.(?_86564269)_(86686700_?)del
NC_000005.9:g.(?_86627145)_(86659341_?)del
NC_000005.9:g.(?_86627145)_(86672402_?)dup
NC_000005.9:g.(?_86633771)_(86659341_?)del
NC_000005.9:g.(?_86675532)_(86685364_?)dup
NC_000009.11:g.(?_130577951)_(130581121_?)del
NC_000009.11:g.(?_130577951)_(130582326_?)del
NC_000009.11:g.(?_130577951)_(130700109_?)del
NC_000009.11:g.(?_130578090)_130581774del
NC_000009.11:g.(?_130578190)_(130592112_?)dup
NC_000009.11:g.(?_130578190)_(130616640_?)dup
NC_000009.11:g.(?_130578196)_(130581131_?)del
NC_000009.11:g.(?_130578196)_(130582336_?)del
NC_000009.11:g.(?_130578196)_(130592116_?)del
NC_000009.11:g.(?_130578196)_(130616761_?)dup
NC_000009.11:g.(?_130579418)_(130579492_?)del
NC_000009.11:g.(?_130586563)_(130587263_?)dup
NC_000009.11:g.(?_130586563)_(130588971_?)dup
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130586563)_(130605544_?)dup
NC_000009.11:g.(?_130586573)_(130592116_?)del
NC_000009.11:g.(?_130586635)_(130592750_?)del
NC_000009.11:g.(?_130587069)_(130592116_?)del
NC_000009.11:g.(?_130587069)_(130592116_?)dup
NC_000009.11:g.(?_130605351)_(130616761_?)del
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NC_000009.12:g.(?_127815012)_(127854773_?)del
NC_000009.12:g.(?_127815662)_(127820057_?)del
NC_000009.12:g.(?_127815672)_(127854482_?)del
NC_000009.12:g.(?_127815907)_(127854365_?)del
NC_000009.12:g.(?_127815917)_(127854482_?)del
NC_000009.12:g.(?_127819602)_(127820057_?)del
NC_000009.12:g.(?_127819612)_(127820047_?)del
NC_000009.12:g.(?_127819612)_(127820047_?)dup
NC_000009.12:g.(?_127819612)_(127829837_?)del
NC_000009.12:g.(?_127819616)_(127820043_?)del
NC_000009.12:g.(?_127819622)_(127820037_?)del
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824284)_(127854482_?)del
NC_000009.12:g.(?_127824294)_(127824456_?)del
NC_000009.12:g.(?_127824294)_(127825367_?)dup
NC_000009.12:g.(?_127824294)_(127826683_?)del
NC_000009.12:g.(?_127825214)_(127826683_?)del
NC_000009.12:g.(?_127829681)_(127829833_?)del
NC_000009.12:g.(?_127843084)_(127843255_?)dup
NC_000009.12:g.(?_127843088)_(127843251_?)del
NC_000009.12:g.(?_127843094)_(127843245_?)del
NC_000009.12:g.(?_127854269)_(127854482_?)del
NC_000009.12:g.(?_127854279)_(127854365_?)del
NC_000009.12:g.(?_127854279)_(127854482_?)del
NC_000010.10:g.(?_48413558)_(48416713_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)dup
NC_000010.10:g.(?_48413578)_(48416693_?)del
NC_000012.11:g.(?_52306239)_(52314697_?)del
NC_000012.11:g.(?_52306259)_(52307877_?)del
NC_000012.11:g.(?_52306259)_(52310037_?)dup
NC_000012.11:g.(?_52306863)_(52310037_?)del
NC_000012.11:g.(?_52309800)_(52310037_?)del
NC_000012.11:g.(?_52314523)_(52314677_?)del
NC_000012.11:g.52308281_52308282insAlu
NC_000012.12:g.(?_51912465)_(51912545_?)del
NC_000012.12:g.(?_51912465)_(51920903_?)del
NC_000012.12:g.(?_51913079)_(51913790_?)del
NC_000012.12:g.(?_51913089)_(51916243_?)del
NC_000012.12:g.(?_51913539)_(51919135_?)del
NC_000012.12:g.(?_51913954)_(51919135_?)del
NC_000012.12:g.(?_51920691)_(51920903_?)del
NC_000012.12:g.(?_51920739)_(51920913_?)del
NC_000012.12:g.(?_51920759)_(51923361_?)del
NM_000020.3(ACVRL1):c.1004A>G (p.Asn335Ser) rs1060503247
NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile) rs1060503247
NM_000020.3(ACVRL1):c.1005T>C (p.Asn335=)
NM_000020.3(ACVRL1):c.1007T>A (p.Val336Glu) rs1565594467
NM_000020.3(ACVRL1):c.1008_1009del (p.Leu337fs)
NM_000020.3(ACVRL1):c.100T>A (p.Cys34Ser)
NM_000020.3(ACVRL1):c.100T>C (p.Cys34Arg)
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1010T>G (p.Leu337Arg)
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs) rs2139074041
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly) rs1940812234
NM_000020.3(ACVRL1):c.1014C>T (p.Val338=) rs1565594472
NM_000020.3(ACVRL1):c.1015A>T (p.Lys339Ter) rs1940812366
NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr)
NM_000020.3(ACVRL1):c.1025T>C (p.Leu342Pro) rs762287966
NM_000020.3(ACVRL1):c.1027_1047del (p.Gln343_Leu349del) rs1592224385
NM_000020.3(ACVRL1):c.1028A>C (p.Gln343Pro) rs1592224402
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter) rs1226848374
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg) rs1592224412
NM_000020.3(ACVRL1):c.1030_1048+18del rs1940812948
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe) rs28936688
NM_000020.3(ACVRL1):c.1032T>A (p.Cys344Ter) rs368437392
NM_000020.3(ACVRL1):c.1032T>C (p.Cys344=) rs368437392
NM_000020.3(ACVRL1):c.1033T>C (p.Cys345Arg) rs1060503239
NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr) rs1592224431
NM_000020.3(ACVRL1):c.1035C>A (p.Cys345Ter)
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs) rs1565594524
NM_000020.3(ACVRL1):c.1037T>G (p.Ile346Ser)
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr) rs1940813707
NM_000020.3(ACVRL1):c.1038C>G (p.Ile346Met)
NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro)
NM_000020.3(ACVRL1):c.1040_1042dup (p.Ala347_Asp348insAla)
NM_000020.3(ACVRL1):c.1041C>G (p.Ala347=) rs750685021
NM_000020.3(ACVRL1):c.1041C>T (p.Ala347=) rs750685021
NM_000020.3(ACVRL1):c.1042G>C (p.Asp348His)
NM_000020.3(ACVRL1):c.1042G>T (p.Asp348Tyr) rs1940813954
NM_000020.3(ACVRL1):c.1042del (p.Asp348fs) rs1565594536
NM_000020.3(ACVRL1):c.1043_1048+1dup rs1940814079
NM_000020.3(ACVRL1):c.1044C>G (p.Asp348Glu)
NM_000020.3(ACVRL1):c.1044_1048+4dup
NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro) rs765895870
NM_000020.3(ACVRL1):c.1048+1G>A rs2139074368
NM_000020.3(ACVRL1):c.1048+2T>C
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT rs1940814416
NM_000020.3(ACVRL1):c.1048+55_1048+58del rs575587274
NM_000020.3(ACVRL1):c.1048+5G>A
NM_000020.3(ACVRL1):c.1048+7C>T
NM_000020.3(ACVRL1):c.1048+8G>A
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser)
NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg) rs1565594547
NM_000020.3(ACVRL1):c.1049-16G>A
NM_000020.3(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.3(ACVRL1):c.1049-1G>T rs1060503242
NM_000020.3(ACVRL1):c.1049-9C>T
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1055C>T (p.Ala352Val)
NM_000020.3(ACVRL1):c.1055del (p.Ala352fs) rs1940830552
NM_000020.3(ACVRL1):c.1056T>C (p.Ala352=) rs764080716
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter) rs2139075900
NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg) rs2139064443
NM_000020.3(ACVRL1):c.1110G>A (p.Val370=)
NM_000020.3(ACVRL1):c.1112G>C (p.Gly371Ala) rs1940832594
NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile) rs1565594920
NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly) rs28936401
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1121G>C (p.Arg374Pro) rs1060503248
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.3(ACVRL1):c.1124A>T (p.Tyr375Phe) rs1085307416
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.3(ACVRL1):c.1129G>A (p.Ala377Thr) rs1565594969
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1133C>A (p.Pro378His)
NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg) rs1940833669
NM_000020.3(ACVRL1):c.1133C>T (p.Pro378Leu)
NM_000020.3(ACVRL1):c.1136A>G (p.Glu379Gly)
NM_000020.3(ACVRL1):c.1136A>T (p.Glu379Val)
NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro) rs1085307417
NM_000020.3(ACVRL1):c.1146C>T (p.Asp382=)
NM_000020.3(ACVRL1):c.1147G>T (p.Glu383Ter) rs148057374
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs) rs1940834530
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs) rs2139064475
NM_000020.3(ACVRL1):c.1161G>C (p.Thr387=)
NM_000020.3(ACVRL1):c.1165_1179del (p.Cys389_Tyr393del) rs1940835452
NM_000020.3(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070
NM_000020.3(ACVRL1):c.1188T>C (p.Thr396=)
NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn) rs1592225036
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn) rs1940836783
NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val) rs1592225044
NM_000020.3(ACVRL1):c.1191C>T (p.Asp397=)
NM_000020.3(ACVRL1):c.1192A>G (p.Ile398Val)
NM_000020.3(ACVRL1):c.1195T>G (p.Trp399Gly) rs1085307418
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter) rs121909289
NM_000020.3(ACVRL1):c.1197G>A (p.Trp399Ter) rs1940837338
NM_000020.3(ACVRL1):c.1198G>A (p.Ala400Thr)
NM_000020.3(ACVRL1):c.1198del (p.Ala400fs)
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp) rs2139076990
NM_000020.3(ACVRL1):c.1199C>T (p.Ala400Val)
NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser) rs1555153354
NM_000020.3(ACVRL1):c.1215del (p.Trp406fs) rs2139077020
NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter) rs1060503235
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys) rs2139077046
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly) rs2139064528
NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly) rs1565595121
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His)
NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr) rs1184716348
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1231_1246+4dup rs1940838178
NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro) rs121909284
NM_000020.3(ACVRL1):c.1246+11A>G
NM_000020.3(ACVRL1):c.1246+16A>C
NM_000020.3(ACVRL1):c.1246+1G>A rs1565595176
NM_000020.3(ACVRL1):c.1246+2T>C rs1555153382
NM_000020.3(ACVRL1):c.1246+5G>A rs1940838881
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1247-13T>G
NM_000020.3(ACVRL1):c.1247-1G>C rs2139083899
NM_000020.3(ACVRL1):c.124_138del (p.Lys42_Cys46del) rs2139064546
NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs) rs1555153796
NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met) rs753480401
NM_000020.3(ACVRL1):c.1260del (p.Tyr421fs)
NM_000020.3(ACVRL1):c.1261T>A (p.Tyr421Asn)
NM_000020.3(ACVRL1):c.1263T>C (p.Tyr421=)
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
NM_000020.3(ACVRL1):c.1270C>G (p.Pro424Ala) rs1085307419
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg) rs1940906429
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu)
NM_000020.3(ACVRL1):c.1275C>T (p.Phe425=) rs191763644
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys) rs771606504
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser) rs2139084154
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs) rs1940731395
NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs) rs2139064592
NM_000020.3(ACVRL1):c.1310A>G (p.Asp437Gly) rs1060503238
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.3(ACVRL1):c.1315A>T (p.Lys439Ter)
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del) rs1940907616
NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs) rs2139064649
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met) rs1565596498
NM_000020.3(ACVRL1):c.1323G>A (p.Val441=) rs1592226875
NM_000020.3(ACVRL1):c.1323_1324dup (p.Val442fs) rs1555153830
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.3(ACVRL1):c.1325T>C (p.Val442Ala) rs2139084277
NM_000020.3(ACVRL1):c.1327T>G (p.Cys443Gly)
NM_000020.3(ACVRL1):c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46fs)
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs) rs1565596508
NM_000020.3(ACVRL1):c.1331dup (p.Asp445fs) rs1940908116
NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.3(ACVRL1):c.1339C>T (p.Gln447Ter) rs2139084336
NM_000020.3(ACVRL1):c.1345C>T (p.Pro449Ser) rs1940908457
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1347del (p.Thr450fs) rs1940908396
NM_000020.3(ACVRL1):c.1347dup (p.Thr450fs)
NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu) rs1555153848
NM_000020.3(ACVRL1):c.1359C>T (p.Asn453=)
NM_000020.3(ACVRL1):c.1361G>A (p.Arg454Gln)
NM_000020.3(ACVRL1):c.1377+1G>A rs863223406
NM_000020.3(ACVRL1):c.1377+20T>G
NM_000020.3(ACVRL1):c.1377+2T>G rs1555153854
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=) rs61734312
NM_000020.3(ACVRL1):c.1378-11C>T
NM_000020.3(ACVRL1):c.1378-131C>T
NM_000020.3(ACVRL1):c.1378-1G>A rs1060503237
NM_000020.3(ACVRL1):c.1378-216C>G rs111710113
NM_000020.3(ACVRL1):c.1378-2A>G rs2139089146
NM_000020.3(ACVRL1):c.1378-4C>G
NM_000020.3(ACVRL1):c.1378-69C>T
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.3(ACVRL1):c.1381dup (p.Leu461fs) rs2139089160
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.3(ACVRL1):c.1396C>T (p.Gln466Ter)
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs) rs1555152455
NM_000020.3(ACVRL1):c.1403T>G (p.Met468Arg)
NM_000020.3(ACVRL1):c.1405C>A (p.Arg469=) rs760773605
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp) rs760773605
NM_000020.3(ACVRL1):c.1408dup (p.Glu470fs)
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
NM_000020.3(ACVRL1):c.1411T>C (p.Cys471Arg)
NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly) rs1940955180
NM_000020.3(ACVRL1):c.1412G>A (p.Cys471Tyr) rs1555154137
NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter) rs1301762186
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) rs1555154144
NM_000020.3(ACVRL1):c.1416G>A (p.Trp472Ter)
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys) rs1060503243
NM_000020.3(ACVRL1):c.1416G>T (p.Trp472Cys) rs1060503243
NM_000020.3(ACVRL1):c.1419C>A (p.Tyr473Ter) rs1940955656
NM_000020.3(ACVRL1):c.1419C>G (p.Tyr473Ter) rs1940955656
NM_000020.3(ACVRL1):c.1426_1428del (p.Pro476del)
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg) rs1940955941
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu) rs1940955941
NM_000020.3(ACVRL1):c.1428del (p.Ser477fs) rs1592228303
NM_000020.3(ACVRL1):c.142G>A (p.Gly48Arg) rs2139064757
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.1436G>C (p.Arg479Pro) rs1085307426
NM_000020.3(ACVRL1):c.1438C>A (p.Leu480Ile)
NM_000020.3(ACVRL1):c.1438C>T (p.Leu480Phe)
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu) rs267606632
NM_000020.3(ACVRL1):c.1442C>T (p.Thr481Ile)
NM_000020.3(ACVRL1):c.1443C>G (p.Thr481=)
NM_000020.3(ACVRL1):c.1444G>A (p.Ala482Thr)
NM_000020.3(ACVRL1):c.1444G>C (p.Ala482Pro)
NM_000020.3(ACVRL1):c.1445C>A (p.Ala482Glu)
NM_000020.3(ACVRL1):c.1448T>G (p.Leu483Arg) rs1565597471
NM_000020.3(ACVRL1):c.1450C>A (p.Arg484=) rs121909288
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro) rs863223408
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) rs863223408
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu) rs1940959530
NM_000020.3(ACVRL1):c.145del (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.1464A>C (p.Thr488=)
NM_000020.3(ACVRL1):c.1464A>G (p.Thr488=) rs1286842082
NM_000020.3(ACVRL1):c.1465C>A (p.Leu489Ile) rs1940959903
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro) rs1057523573
NM_000020.3(ACVRL1):c.1467A>G (p.Leu489=)
NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg) rs1555152468
NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly) rs1555152468
NM_000020.3(ACVRL1):c.1509A>G (p.Gln503=) rs745390732
NM_000020.3(ACVRL1):c.150G>C (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser)
NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly) rs2139064874
NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr) rs863223409
NM_000020.3(ACVRL1):c.180G>A (p.Gly60=)
NM_000020.3(ACVRL1):c.183G>C (p.Arg61Ser)
NM_000020.3(ACVRL1):c.183del (p.Arg61fs) rs1060503246
NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter) rs1592221728
NM_000020.3(ACVRL1):c.190del (p.Gln64fs) rs1060503241
NM_000020.3(ACVRL1):c.191dup (p.Glu65fs)
NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter) rs1427299751
NM_000020.3(ACVRL1):c.193del (p.Glu65fs) rs2139065161
NM_000020.3(ACVRL1):c.199del (p.Arg67fs)
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly)
NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr) rs1318118188
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter) rs56080682
NM_000020.3(ACVRL1):c.223G>T (p.Glu75Ter) rs750720985
NM_000020.3(ACVRL1):c.223del (p.Glu75fs) rs2139065347
NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp) rs1221689111
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
NM_000020.3(ACVRL1):c.237del (p.Arg80fs) rs1592221830
NM_000020.3(ACVRL1):c.237dup (p.Arg80fs) rs1592221830
NM_000020.3(ACVRL1):c.247G>A (p.Glu83Lys)
NM_000020.3(ACVRL1):c.251T>G (p.Phe84Cys) rs1940738967
NM_000020.3(ACVRL1):c.259C>G (p.His87Asp) rs1430932447
NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys) rs1940739692
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter) rs775754117
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly) rs1555152520
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe) rs1060503234
NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp) rs1592221930
NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe) rs863223410
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
NM_000020.3(ACVRL1):c.271G>A (p.Asp91Asn)
NM_000020.3(ACVRL1):c.281T>C (p.Leu94Pro)
NM_000020.3(ACVRL1):c.286A>C (p.Asn96His)
NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.3(ACVRL1):c.303_313+2del
NM_000020.3(ACVRL1):c.306G>T (p.Val102=)
NM_000020.3(ACVRL1):c.313+1G>A rs1555152548
NM_000020.3(ACVRL1):c.313+1G>C
NM_000020.3(ACVRL1):c.313+1G>T rs1555152548
NM_000020.3(ACVRL1):c.313+7C>G rs374171506
NM_000020.3(ACVRL1):c.314-12C>A rs1226569087
NM_000020.3(ACVRL1):c.314-13C>T
NM_000020.3(ACVRL1):c.314-16T>C
NM_000020.3(ACVRL1):c.314-19C>T
NM_000020.3(ACVRL1):c.314-9C>T
NM_000020.3(ACVRL1):c.320_323dup (p.Pro109fs)
NM_000020.3(ACVRL1):c.329C>A (p.Ser110Ter) rs143872998
NM_000020.3(ACVRL1):c.336del (p.Gln112fs) rs1940750523
NM_000020.3(ACVRL1):c.339G>A (p.Pro113=)
NM_000020.3(ACVRL1):c.353_360dup (p.Leu121fs)
NM_000020.3(ACVRL1):c.362_374del (p.Leu121fs) rs2139067065
NM_000020.3(ACVRL1):c.368T>A (p.Leu123Gln)
NM_000020.3(ACVRL1):c.368T>C (p.Leu123Pro) rs762756031
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=) rs56301903
NM_000020.3(ACVRL1):c.372C>T (p.Gly124=) rs55758365
NM_000020.3(ACVRL1):c.375C>T (p.Pro125=) rs148975811
NM_000020.3(ACVRL1):c.375del (p.Val126fs) rs1940751760
NM_000020.3(ACVRL1):c.376del (p.Val126fs)
NM_000020.3(ACVRL1):c.377dup (p.Leu127fs) rs2139067187
NM_000020.3(ACVRL1):c.393C>T (p.Ala131=) rs2139067291
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs) rs2139067412
NM_000020.3(ACVRL1):c.417C>A (p.Gly139=) rs2139067433
NM_000020.3(ACVRL1):c.41dup (p.Met15fs) rs1060503236
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.430del (p.Arg144fs)
NM_000020.3(ACVRL1):c.462C>T (p.His154=) rs1188042599
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
NM_000020.3(ACVRL1):c.469C>T (p.Leu157=)
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter) rs1940756257
NM_000020.3(ACVRL1):c.476A>G (p.Glu159Gly)
NM_000020.3(ACVRL1):c.495A>G (p.Lys165=)
NM_000020.3(ACVRL1):c.499T>C (p.Ser167Pro)
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
NM_000020.3(ACVRL1):c.500_518del (p.Ser167fs) rs2139067828
NM_000020.3(ACVRL1):c.50dup (p.Leu17fs) rs2139062776
NM_000020.3(ACVRL1):c.514dup (p.Ser172fs) rs1940757414
NM_000020.3(ACVRL1):c.525+14_525+21del
NM_000020.3(ACVRL1):c.525+1G>A rs1555152710
NM_000020.3(ACVRL1):c.525+1G>C
NM_000020.3(ACVRL1):c.525+1G>T rs1555152710
NM_000020.3(ACVRL1):c.525+1del rs1060503249
NM_000020.3(ACVRL1):c.525+2T>C rs2139067969
NM_000020.3(ACVRL1):c.525+3A>G
NM_000020.3(ACVRL1):c.525+7G>A
NM_000020.3(ACVRL1):c.526-13T>A
NM_000020.3(ACVRL1):c.526-1G>A rs1565593274
NM_000020.3(ACVRL1):c.526-7C>A rs772776468
NM_000020.3(ACVRL1):c.526-7C>G
NM_000020.3(ACVRL1):c.526G>T (p.Asp176Tyr)
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs) rs1555152774
NM_000020.3(ACVRL1):c.542_545del (p.Asp181fs) rs1555152771
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter) rs2139068677
NM_000020.3(ACVRL1):c.549C>A (p.Thr183=) rs2139068700
NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile) rs1288729113
NM_000020.3(ACVRL1):c.573C>G (p.Pro191=) rs1404977364
NM_000020.3(ACVRL1):c.573del (p.Phe192fs) rs1555152786
NM_000020.3(ACVRL1):c.576C>G (p.Phe192Leu)
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000020.3(ACVRL1):c.579G>T (p.Leu193=) rs201207660
NM_000020.3(ACVRL1):c.583C>T (p.Gln195Ter)
NM_000020.3(ACVRL1):c.586A>G (p.Arg196Gly)
NM_000020.3(ACVRL1):c.589A>G (p.Thr197Ala)
NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter) rs1555152345
NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala) rs886043123
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.3(ACVRL1):c.61+14G>A
NM_000020.3(ACVRL1):c.61+1G>A
NM_000020.3(ACVRL1):c.61+1G>T
NM_000020.3(ACVRL1):c.611TGG[1] (p.Val205del) rs1060503250
NM_000020.3(ACVRL1):c.615G>A (p.Val205=) rs1940766632
NM_000020.3(ACVRL1):c.619T>G (p.Cys207Gly)
NM_000020.3(ACVRL1):c.62-9G>A
NM_000020.3(ACVRL1):c.621T>A (p.Cys207Ter) rs1940766819
NM_000020.3(ACVRL1):c.623_624del (p.Val208fs) rs1060503240
NM_000020.3(ACVRL1):c.625+10G>A rs1592223042
NM_000020.3(ACVRL1):c.625+1G>A
NM_000020.3(ACVRL1):c.625+1G>T rs1940767034
NM_000020.3(ACVRL1):c.625+1del rs1555152815
NM_000020.3(ACVRL1):c.625+20G>A
NM_000020.3(ACVRL1):c.625+2T>C rs1592223028
NM_000020.3(ACVRL1):c.625+3G>C
NM_000020.3(ACVRL1):c.625+4del
NM_000020.3(ACVRL1):c.625+5G>T rs2139069022
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg) rs1940766958
NM_000020.3(ACVRL1):c.626-16C>T
NM_000020.3(ACVRL1):c.626-1G>A rs2139070294
NM_000020.3(ACVRL1):c.626-2A>G rs1940780382
NM_000020.3(ACVRL1):c.626-59del rs864622702
NM_000020.3(ACVRL1):c.626-9G>A rs1940780208
NM_000020.3(ACVRL1):c.631G>A (p.Gly211Ser)
NM_000020.3(ACVRL1):c.631G>T (p.Gly211Cys) rs1940780439
NM_000020.3(ACVRL1):c.633C>T (p.Gly211=)
NM_000020.3(ACVRL1):c.641del (p.Gly214fs) rs1555152909
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
NM_000020.3(ACVRL1):c.646_657dup (p.Val216_Gly219dup) rs2139070394
NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter) rs1592223399
NM_000020.3(ACVRL1):c.651del (p.Trp217fs)
NM_000020.3(ACVRL1):c.653G>C (p.Arg218Pro) rs779287554
NM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg) rs1592223416
NM_000020.3(ACVRL1):c.660G>C (p.Leu220Phe) rs142906906
NM_000020.3(ACVRL1):c.663G>A (p.Trp221Ter) rs2139070482
NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser) rs1940782114
NM_000020.3(ACVRL1):c.670G>A (p.Glu224Lys)
NM_000020.3(ACVRL1):c.670G>T (p.Glu224Ter)
NM_000020.3(ACVRL1):c.673del (p.Ser225fs)
NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu) rs1565593639
NM_000020.3(ACVRL1):c.685A>G (p.Lys229Glu) rs1592223468
NM_000020.3(ACVRL1):c.686A>G (p.Lys229Arg)
NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met) rs1940782891
NM_000020.3(ACVRL1):c.688A>T (p.Ile230Phe)
NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)
NM_000020.3(ACVRL1):c.68del (p.Pro23fs) rs2139064139
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.698C>G (p.Ser233Trp) rs762773076
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.698_699dup (p.Asp235fs) rs2139070714
NM_000020.3(ACVRL1):c.69T>C (p.Pro23=) rs762796409
NM_000020.3(ACVRL1):c.703del (p.Asp235fs)
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.711_713delinsAG (p.Ser238fs) rs1555152935
NM_000020.3(ACVRL1):c.714del (p.Trp239fs) rs1940783683
NM_000020.3(ACVRL1):c.716G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.717G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.721C>T (p.Arg241Trp)
NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter) rs1940784067
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) rs1592221459
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys) rs755026232
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) rs1555152955
NM_000020.3(ACVRL1):c.748T>G (p.Leu250Val)
NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer)
NM_000020.3(ACVRL1):c.758A>G (p.His253Arg) rs2139070976
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.3(ACVRL1):c.761ACA[1] (p.Asn255del)
NM_000020.3(ACVRL1):c.763A>G (p.Asn255Asp)
NM_000020.3(ACVRL1):c.772+14_772+16delinsTAG
NM_000020.3(ACVRL1):c.772+1G>C rs1940785759
NM_000020.3(ACVRL1):c.772+27G>A
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.3(ACVRL1):c.773-7C>T
NM_000020.3(ACVRL1):c.773-7_773-6delinsTC rs1555153071
NM_000020.3(ACVRL1):c.787G>A (p.Asp263Asn) rs2139072643
NM_000020.3(ACVRL1):c.789del (p.Asp263fs)
NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs) rs2139064218
NM_000020.3(ACVRL1):c.798C>A (p.Ser266=) rs2139072722
NM_000020.3(ACVRL1):c.806C>A (p.Ser269Ter)
NM_000020.3(ACVRL1):c.807_810del (p.Ser270fs) rs2139072772
NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter) rs1555153077
NM_000020.3(ACVRL1):c.812C>A (p.Thr271Lys) rs2139072795
NM_000020.3(ACVRL1):c.812C>G (p.Thr271Arg)
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter) rs757645341
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys) rs757645341
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg) rs750085854
NM_000020.3(ACVRL1):c.830C>T (p.Thr277Met)
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
NM_000020.3(ACVRL1):c.838_842del (p.His280fs)
NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter) rs779485996
NM_000020.3(ACVRL1):c.843G>A (p.Glu281=)
NM_000020.3(ACVRL1):c.847G>A (p.Gly283Ser)
NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs) rs1940804402
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer)
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.3(ACVRL1):c.858C>A (p.Tyr286Ter) rs542810348
NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser) rs1940804969
NM_000020.3(ACVRL1):c.864dup (p.Leu289fs)
NM_000020.3(ACVRL1):c.866T>C (p.Leu289Pro)
NM_000020.3(ACVRL1):c.86del (p.Gly29fs) rs1940729491
NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter) rs1057256890
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter) rs1940805354
NM_000020.3(ACVRL1):c.877del (p.Thr293fs)
NM_000020.3(ACVRL1):c.881T>G (p.Leu294Arg) rs2139073155
NM_000020.3(ACVRL1):c.888C>G (p.Pro296=) rs776879586
NM_000020.3(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.3(ACVRL1):c.897T>C (p.Ala299=)
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.907G>C (p.Ala303Pro) rs1565594220
NM_000020.3(ACVRL1):c.909T>C (p.Ala303=)
NM_000020.3(ACVRL1):c.913_916del (p.Ser305fs)
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.915C>T (p.Ser305=)
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro) rs1940807179
NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys) rs1060503244
NM_000020.3(ACVRL1):c.919del (p.Ala307fs)
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu) rs863223411
NM_000020.3(ACVRL1):c.921A>T (p.Ala307=)
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser) rs1555153133
NM_000020.3(ACVRL1):c.925G>C (p.Gly309Arg) rs1555153133
NM_000020.3(ACVRL1):c.927_928delinsAT (p.Gly309_Leu310=) rs1592224196
NM_000020.3(ACVRL1):c.929_932del (p.Leu310fs) rs1940808154
NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro) rs565262730
NM_000020.3(ACVRL1):c.931dup (p.Ala311fs) rs2139073551
NM_000020.3(ACVRL1):c.933G>C (p.Ala311=)
NM_000020.3(ACVRL1):c.935A>C (p.His312Pro)
NM_000020.3(ACVRL1):c.938T>G (p.Leu313Arg)
NM_000020.3(ACVRL1):c.940C>A (p.His314Asn) rs1565594311
NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr) rs1565594311
NM_000020.3(ACVRL1):c.950T>C (p.Ile317Thr) rs1085307413
NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000020.3(ACVRL1):c.961C>T (p.Gln321Ter) rs2139073732
NM_000020.3(ACVRL1):c.962_963del (p.Gln321fs)
NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu)
NM_000020.3(ACVRL1):c.968A>C (p.Lys323Thr)
NM_000020.3(ACVRL1):c.969A>C (p.Lys323Asn) rs771877309
NM_000020.3(ACVRL1):c.974C>G (p.Ala325Gly)
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000020.3(ACVRL1):c.980C>A (p.Ala327Asp) rs769850351
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291
NM_000020.3(ACVRL1):c.983A>C (p.His328Pro) rs2139073840
NM_000020.3(ACVRL1):c.983A>G (p.His328Arg)
NM_000020.3(ACVRL1):c.984C>A (p.His328Gln) rs1565594410
NM_000020.3(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000020.3(ACVRL1):c.988G>T (p.Asp330Tyr)
NM_000020.3(ACVRL1):c.990C>G (p.Asp330Glu)
NM_000020.3(ACVRL1):c.990C>T (p.Asp330=) rs1463725277
NM_000020.3(ACVRL1):c.992T>C (p.Phe331Ser) rs1166311240
NM_000020.3(ACVRL1):c.997A>T (p.Ser333Cys) rs2139073944
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000118.3(ENG):c.1687delG rs1564452075
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs) rs1830345043
NM_001114753.3(ENG):c.-111G>A
NM_001114753.3(ENG):c.-112C>T
NM_001114753.3(ENG):c.-115G>A
NM_001114753.3(ENG):c.-115G>C rs546892762
NM_001114753.3(ENG):c.-117C>T
NM_001114753.3(ENG):c.-123G>A
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.-12C>T
NM_001114753.3(ENG):c.-133C>T
NM_001114753.3(ENG):c.-141G>T
NM_001114753.3(ENG):c.-154C>T
NM_001114753.3(ENG):c.-21A>G
NM_001114753.3(ENG):c.-24C>T
NM_001114753.3(ENG):c.-2G>T
NM_001114753.3(ENG):c.-58G>A
NM_001114753.3(ENG):c.-59C>A
NM_001114753.3(ENG):c.-62G>A
NM_001114753.3(ENG):c.-69G>A
NM_001114753.3(ENG):c.-70del rs886063477
NM_001114753.3(ENG):c.-75G>A
NM_001114753.3(ENG):c.-77C>G rs1829099196
NM_001114753.3(ENG):c.-78G>A
NM_001114753.3(ENG):c.-79C>T rs1564466502
NM_001114753.3(ENG):c.-8_8del (p.Met1fs) rs1588604603
NM_001114753.3(ENG):c.-90G>C rs768083796
NM_001114753.3(ENG):c.-94C>G
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
NM_001114753.3(ENG):c.1017A>G (p.Ala339=) rs2131886064
NM_001114753.3(ENG):c.1022T>C (p.Ile341Thr)
NM_001114753.3(ENG):c.1023C>A (p.Ile341=) rs909339898
NM_001114753.3(ENG):c.1024C>T (p.Gln342Ter) rs774429348
NM_001114753.3(ENG):c.1026G>T (p.Gln342His) rs1830551216
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala) rs2131886016
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro) rs2131885993
NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_001114753.3(ENG):c.1036C>T (p.Pro346Ser) rs1554810062
NM_001114753.3(ENG):c.1042del (p.Asp348fs) rs2131885976
NM_001114753.3(ENG):c.1050T>C (p.Cys350=)
NM_001114753.3(ENG):c.1051_1052del (p.Ser351fs)
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe) rs1830549584
NM_001114753.3(ENG):c.1064T>C (p.Leu355Pro)
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr) rs138190783
NM_001114753.3(ENG):c.1067T>G (p.Met356Arg) rs138190783
NM_001114753.3(ENG):c.1076T>A (p.Ile359Asn) rs2131885879
NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr)
NM_001114753.3(ENG):c.1076dup (p.Gln360fs) rs2131885883
NM_001114753.3(ENG):c.1077C>A (p.Ile359=) rs1830549327
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs) rs1554810051
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) rs2131885848
NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser) rs1588580782
NM_001114753.3(ENG):c.1089T>C (p.Cys363=)
NM_001114753.3(ENG):c.1092C>G (p.Ala364=)
NM_001114753.3(ENG):c.1093G>T (p.Asp365Tyr) rs548690138
NM_001114753.3(ENG):c.1095C>G (p.Asp365Glu) rs142803546
NM_001114753.3(ENG):c.1096G>A (p.Asp366Asn) rs1800956
NM_001114753.3(ENG):c.1099G>C (p.Ala367Pro) rs372371435
NM_001114753.3(ENG):c.10G>A (p.Gly4Ser)
NM_001114753.3(ENG):c.10G>C (p.Gly4Arg)
NM_001114753.3(ENG):c.1100C>G (p.Ala367Gly)
NM_001114753.3(ENG):c.1106C>T (p.Thr369Ile) rs775352287
NM_001114753.3(ENG):c.1108C>G (p.Leu370Val)
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln) rs1830547696
NM_001114753.3(ENG):c.1110G>A (p.Leu370=) rs1588580725
NM_001114753.3(ENG):c.1110_1115dup (p.Leu372_Lys373insValLeu) rs1830547424
NM_001114753.3(ENG):c.1111dup (p.Val371fs) rs1554810041
NM_001114753.3(ENG):c.1114C>T (p.Leu372=)
NM_001114753.3(ENG):c.111C>G (p.Pro37=)
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) rs1064793734
NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs) rs1554810037
NM_001114753.3(ENG):c.1134+12C>T
NM_001114753.3(ENG):c.1134+16C>A
NM_001114753.3(ENG):c.1134+1G>A rs112809381
NM_001114753.3(ENG):c.1134G>C (p.Ala378=) rs1329127701
NM_001114753.3(ENG):c.1135-10del
NM_001114753.3(ENG):c.1135-15del
NM_001114753.3(ENG):c.1135-20G>A
NM_001114753.3(ENG):c.1135-4C>T
NM_001114753.3(ENG):c.1135C>A (p.His379Asn) rs771599199
NM_001114753.3(ENG):c.1139del (p.His379_Leu380insTer) rs2131879372
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr) rs2131879350
NM_001114753.3(ENG):c.1152C>T (p.Ile384=)
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro) rs1830434864
NM_001114753.3(ENG):c.1153A>G (p.Thr385Ala) rs1830434864
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_001114753.3(ENG):c.1161G>C (p.Leu387=)
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys) rs892005175
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)
NM_001114753.3(ENG):c.1171G>C (p.Asp391His) rs1830434474
NM_001114753.3(ENG):c.1172A>G (p.Asp391Gly) rs2131879297
NM_001114753.3(ENG):c.1175_1176del (p.Pro392fs)
NM_001114753.3(ENG):c.1176del (p.Ser393fs)
NM_001114753.3(ENG):c.1177A>G (p.Ser393Gly) rs781518626
NM_001114753.3(ENG):c.1180T>C (p.Cys394Arg)
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr) rs1830434129
NM_001114753.3(ENG):c.118G>T (p.Gly40Cys) rs778319338
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser) rs1418330913
NM_001114753.3(ENG):c.1199del (p.Gly400fs) rs1060501422
NM_001114753.3(ENG):c.119_133del (p.Gly40_Thr45delinsAla)
NM_001114753.3(ENG):c.119del (p.Gly40fs) rs369596004
NM_001114753.3(ENG):c.1200T>C (p.Gly400=) rs1306446029
NM_001114753.3(ENG):c.1203C>T (p.Asp401=) rs2131879238
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser) rs1830433526
NM_001114753.3(ENG):c.1209T>C (p.Phe403=)
NM_001114753.3(ENG):c.1209dup (p.Val404fs) rs2131879220
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)
NM_001114753.3(ENG):c.1215G>A (p.Leu405=)
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) rs751787590
NM_001114753.3(ENG):c.1216C>T (p.Arg406Cys) rs751787590
NM_001114753.3(ENG):c.1218C>T (p.Arg406=)
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
NM_001114753.3(ENG):c.1223C>T (p.Ala408Val)
NM_001114753.3(ENG):c.1230C>T (p.Ser410=)
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly) rs1830432884
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr) rs1554809513
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter) rs1830432773
NM_001114753.3(ENG):c.1236_1687-77del
NM_001114753.3(ENG):c.1238del (p.Gly413fs) rs1830432717
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys) rs1830432509
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr) rs1830432509
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg) rs1830432509
NM_001114753.3(ENG):c.1242G>C (p.Met414Ile)
NM_001114753.3(ENG):c.1247dup (p.Ser417fs) rs1588576923
NM_001114753.3(ENG):c.1256G>C (p.Ser419Thr)
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met) rs760446518
NM_001114753.3(ENG):c.1268del (p.Asn423fs) rs1564453538
NM_001114753.3(ENG):c.1270dup (p.Glu424fs)
NM_001114753.3(ENG):c.1271A>T (p.Glu424Val)
NM_001114753.3(ENG):c.1272+10G>A
NM_001114753.3(ENG):c.1272+13G>T
NM_001114753.3(ENG):c.1272+14C>G rs1211943511
NM_001114753.3(ENG):c.1272+16A>C rs1271187725
NM_001114753.3(ENG):c.1272+20del
NM_001114753.3(ENG):c.1272+2dup
NM_001114753.3(ENG):c.1272+8C>A rs1273740782
NM_001114753.3(ENG):c.1273-10A>G rs2131878677
NM_001114753.3(ENG):c.1273-14C>G
NM_001114753.3(ENG):c.1273-14C>T
NM_001114753.3(ENG):c.1273-18C>T
NM_001114753.3(ENG):c.1273-19C>T
NM_001114753.3(ENG):c.1273-21_1273-20delinsAT
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA rs1830425770
NM_001114753.3(ENG):c.1273G>A (p.Ala425Thr)
NM_001114753.3(ENG):c.1274C>A (p.Ala425Glu) rs369997021
NM_001114753.3(ENG):c.1276G>A (p.Val426Met) rs1830425455
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs) rs1830425406
NM_001114753.3(ENG):c.1278G>A (p.Val426=)
NM_001114753.3(ENG):c.1278G>C (p.Val426=)
NM_001114753.3(ENG):c.1286dup (p.Leu430fs) rs1554809455
NM_001114753.3(ENG):c.1290G>A (p.Leu430=)
NM_001114753.3(ENG):c.1290G>T (p.Leu430=) rs377321205
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter) rs761353511
NM_001114753.3(ENG):c.1292C>T (p.Ser431Leu) rs761353511
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn) rs763594769
NM_001114753.3(ENG):c.1300T>A (p.Ser434Thr)
NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)
NM_001114753.3(ENG):c.1302A>G (p.Ser434=) rs1588576596
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)
NM_001114753.3(ENG):c.130T>C (p.Tyr44His) rs1554812271
NM_001114753.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)
NM_001114753.3(ENG):c.1311+13G>A
NM_001114753.3(ENG):c.1311+15C>T
NM_001114753.3(ENG):c.1311+18G>A
NM_001114753.3(ENG):c.1311+1G>A
NM_001114753.3(ENG):c.1311+1dup rs1554809446
NM_001114753.3(ENG):c.1311+2T>A
NM_001114753.3(ENG):c.1311+2T>C
NM_001114753.3(ENG):c.1311+5G>A rs1830423993
NM_001114753.3(ENG):c.1311+89C>T rs368202311
NM_001114753.3(ENG):c.1311G>A (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1311G>C (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1311G>T (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1312-16T>G
NM_001114753.3(ENG):c.1312-16_1312-13del rs1276298912
NM_001114753.3(ENG):c.1312-19C>T
NM_001114753.3(ENG):c.1312-1G>C rs2131877148
NM_001114753.3(ENG):c.1312-20T>C rs1448646670
NM_001114753.3(ENG):c.1312-3C>G rs2131877153
NM_001114753.3(ENG):c.1312-4C>G rs2131877165
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter) rs863223536
NM_001114753.3(ENG):c.1317G>C (p.Lys439Asn)
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_001114753.3(ENG):c.1327del (p.Leu443fs) rs1060501413
NM_001114753.3(ENG):c.132_133del (p.Thr45fs) rs2131918640
NM_001114753.3(ENG):c.1333dup (p.Met445fs) rs1830399696
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn) rs1830399300
NM_001114753.3(ENG):c.1336G>T (p.Asp446Tyr)
NM_001114753.3(ENG):c.1338C>T (p.Asp446=)
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1347_1350del (p.Phe450fs) rs2131877041
NM_001114753.3(ENG):c.1350C>T (p.Phe450=)
NM_001114753.3(ENG):c.1351C>T (p.Gln451Ter) rs1554809355
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg) rs1830398628
NM_001114753.3(ENG):c.1358del (p.Gly453fs)
NM_001114753.3(ENG):c.1361T>C (p.Leu454Pro)
NM_001114753.3(ENG):c.1363_1364insC (p.Tyr455fs) rs1064793889
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter) rs774943840
NM_001114753.3(ENG):c.1365C>T (p.Tyr455=)
NM_001114753.3(ENG):c.1369dup (p.Ser457fs)
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_001114753.3(ENG):c.1381_1384del (p.Leu461fs)
NM_001114753.3(ENG):c.1385A>G (p.Gln462Arg) rs2131876977
NM_001114753.3(ENG):c.1393A>G (p.Asn465Asp) rs1830397241
NM_001114753.3(ENG):c.1394dup (p.Asn465fs) rs1554809348
NM_001114753.3(ENG):c.1401C>T (p.Ile467=)
NM_001114753.3(ENG):c.1402G>A (p.Glu468Lys)
NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)
NM_001114753.3(ENG):c.1410del (p.Gln471fs) rs1085307433
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) rs1830395639
NM_001114753.3(ENG):c.1414C>G (p.Gln472Glu)
NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter)
NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs) rs1554809331
NM_001114753.3(ENG):c.1415_1424del (p.Gln472fs) rs1060501412
NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg) rs561818608
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter) rs965119099
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg) rs1830394955
NM_001114753.3(ENG):c.1427A>T (p.Gln476Leu) rs1830394955
NM_001114753.3(ENG):c.1428+11T>C
NM_001114753.3(ENG):c.1428+1G>A rs863223542
NM_001114753.3(ENG):c.1428+20C>A
NM_001114753.3(ENG):c.1428+2T>A rs863223543
NM_001114753.3(ENG):c.1428+2T>C rs863223543
NM_001114753.3(ENG):c.1428+5C>A rs1564452925
NM_001114753.3(ENG):c.1428+8G>A rs2131876799
NM_001114753.3(ENG):c.1429-16C>T
NM_001114753.3(ENG):c.1429-1G>C rs2131876244
NM_001114753.3(ENG):c.1429-23_1429-1del
NM_001114753.3(ENG):c.1429-2A>G rs1564452759
NM_001114753.3(ENG):c.1429-3C>T
NM_001114753.3(ENG):c.1429-6A>G
NM_001114753.3(ENG):c.1429-8C>G rs376169815
NM_001114753.3(ENG):c.1429-8C>T
NM_001114753.3(ENG):c.1429-9_1429-6dup rs762494923
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter) rs1831082433
NM_001114753.3(ENG):c.1434A>T (p.Arg478Ser) rs778561832
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.1440C>A (p.Ser480=) rs1588575160
NM_001114753.3(ENG):c.1441C>T (p.Pro481Ser) rs1554809289
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs) rs1830385865
NM_001114753.3(ENG):c.1453G>A (p.Glu485Lys)
NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter) rs997074986
NM_001114753.3(ENG):c.1456T>C (p.Phe486Leu) rs1830385483
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_001114753.3(ENG):c.146T>A (p.Val49Asp)
NM_001114753.3(ENG):c.1470dup (p.Asp491fs) rs1830385077
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)
NM_001114753.3(ENG):c.1485G>A (p.Leu495=) rs2131876068
NM_001114753.3(ENG):c.1486G>A (p.Asp496Asn) rs2131876065
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter) rs1830384447
NM_001114753.3(ENG):c.1497T>C (p.Pro499=)
NM_001114753.3(ENG):c.149C>A (p.Ser50Ter) rs927607049
NM_001114753.3(ENG):c.1502G>A (p.Gly501Glu) rs2131876010
NM_001114753.3(ENG):c.1509C>T (p.Thr503=)
NM_001114753.3(ENG):c.1509del (p.Val504fs) rs1564452685
NM_001114753.3(ENG):c.150G>A (p.Ser50=) rs377129516
NM_001114753.3(ENG):c.1512G>A (p.Val504=) rs2131875976
NM_001114753.3(ENG):c.1515del (p.Glu505fs)
NM_001114753.3(ENG):c.1515dup (p.Leu506fs) rs1564452667
NM_001114753.3(ENG):c.1517T>A (p.Leu506His) rs778594104
NM_001114753.3(ENG):c.1530G>A (p.Arg510=) rs1225393890
NM_001114753.3(ENG):c.1531del (p.Ala511fs) rs2131875912
NM_001114753.3(ENG):c.1532C>A (p.Ala511Glu)
NM_001114753.3(ENG):c.1532C>T (p.Ala511Val)
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr) rs2131875889
NM_001114753.3(ENG):c.153G>C (p.Lys51Asn)
NM_001114753.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_001114753.3(ENG):c.1550_1551del (p.Val517fs) rs863223541
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs) rs2131875838
NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs) rs886041325
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro) rs2131875808
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu) rs929266862
NM_001114753.3(ENG):c.1572del (p.Glu525fs) rs2131875783
NM_001114753.3(ENG):c.1573G>A (p.Glu525Lys)
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
NM_001114753.3(ENG):c.1583C>G (p.Pro528Arg)
NM_001114753.3(ENG):c.1583dup (p.Arg529fs)
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.15G>A (p.Thr5=)
NM_001114753.3(ENG):c.1600C>T (p.Leu534Phe)
NM_001114753.3(ENG):c.1603_1608del (p.His535_Phe536del)
NM_001114753.3(ENG):c.1612A>G (p.Thr538Ala)
NM_001114753.3(ENG):c.1618_1627del (p.Pro540fs)
NM_001114753.3(ENG):c.1620C>G (p.Pro540=) rs1163127969
NM_001114753.3(ENG):c.1626dup (p.Lys543fs) rs1830377451
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser) rs1830376644
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr) rs1060501421
NM_001114753.3(ENG):c.1648A>C (p.Thr550Pro)
NM_001114753.3(ENG):c.164del (p.Ala55fs) rs1831081460
NM_001114753.3(ENG):c.1655C>A (p.Ala552Asp)
NM_001114753.3(ENG):c.1655C>T (p.Ala552Val)
NM_001114753.3(ENG):c.1657del (p.Leu553fs) rs1064794218
NM_001114753.3(ENG):c.1660C>T (p.Arg554Cys)
NM_001114753.3(ENG):c.1661G>A (p.Arg554His)
NM_001114753.3(ENG):c.1664C>A (p.Pro555His)
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_001114753.3(ENG):c.1672_1684del (p.Gly558fs) rs1554809229
NM_001114753.3(ENG):c.1673G>A (p.Gly558Glu)
NM_001114753.3(ENG):c.1674G>C (p.Gly558=) rs2131875527
NM_001114753.3(ENG):c.1675del (p.Ser559fs) rs1830375325
NM_001114753.3(ENG):c.1675dup (p.Ser559fs) rs2131875524
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter) rs1830375228
NM_001114753.3(ENG):c.1682A>G (p.Asp561Gly) rs375965489
NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter) rs1588574749
NM_001114753.3(ENG):c.1685A>C (p.Gln562Pro)
NM_001114753.3(ENG):c.1686+15G>A
NM_001114753.3(ENG):c.1686+1G>A rs1554809228
NM_001114753.3(ENG):c.1686+5G>A rs1830374353
NM_001114753.3(ENG):c.1686+8G>A rs372670034
NM_001114753.3(ENG):c.1686+8G>C rs372670034
NM_001114753.3(ENG):c.1686+9G>C rs754153231
NM_001114753.3(ENG):c.1686G>C (p.Gln562His)
NM_001114753.3(ENG):c.1687-15C>T
NM_001114753.3(ENG):c.1687-19CT[2] rs566728279
NM_001114753.3(ENG):c.1687-19CT[3]
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001114753.3(ENG):c.1687-1G>T rs1554809106
NM_001114753.3(ENG):c.1687-2A>G rs2131873933
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter) rs2131873923
NM_001114753.3(ENG):c.1695T>A (p.His565Gln) rs750637713
NM_001114753.3(ENG):c.1695T>G (p.His565Gln)
NM_001114753.3(ENG):c.1695del (p.His565fs) rs1830345505
NM_001114753.3(ENG):c.1698G>A (p.Arg566=) rs1554809103
NM_001114753.3(ENG):c.1698del (p.Thr567fs) rs1830345215
NM_001114753.3(ENG):c.1699A>G (p.Thr567Ala) rs1554809101
NM_001114753.3(ENG):c.16C>T (p.Leu6Phe)
NM_001114753.3(ENG):c.1704C>T (p.Val568=) rs1830344643
NM_001114753.3(ENG):c.1709T>C (p.Met570Thr)
NM_001114753.3(ENG):c.170C>G (p.Ala57Gly)
NM_001114753.3(ENG):c.1711C>A (p.Arg571Ser)
NM_001114753.3(ENG):c.1711C>G (p.Arg571Gly)
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter) rs863223539
NM_001114753.3(ENG):c.171C>T (p.Ala57=)
NM_001114753.3(ENG):c.1720A>G (p.Ile574Val)
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del) rs777038953
NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr) rs1284713532
NM_001114753.3(ENG):c.1725C>G (p.Ile575Met) rs1333193699
NM_001114753.3(ENG):c.1726A>G (p.Ser576Gly) rs1564452024
NM_001114753.3(ENG):c.1728C>A (p.Ser576Arg) rs2131873779
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs)
NM_001114753.3(ENG):c.1734C>T (p.Asp578=)
NM_001114753.3(ENG):c.1738T>A (p.Ser580Thr)
NM_001114753.3(ENG):c.1741+10C>T rs1554809082
NM_001114753.3(ENG):c.1741+79G>A rs551082475
NM_001114753.3(ENG):c.1741+8C>A
NM_001114753.3(ENG):c.1742-16C>T
NM_001114753.3(ENG):c.1742-19T>C
NM_001114753.3(ENG):c.1742-8C>T rs1296395453
NM_001114753.3(ENG):c.1742-9C>T rs1362579633
NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly) rs1830304920
NM_001114753.3(ENG):c.1748C>G (p.Thr583Arg)
NM_001114753.3(ENG):c.1748C>T (p.Thr583Ile)
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe) rs747196026
NM_001114753.3(ENG):c.176A>G (p.Asn59Ser)
NM_001114753.3(ENG):c.1770C>T (p.Pro590=) rs370943570
NM_001114753.3(ENG):c.1773C>T (p.Ala591=)
NM_001114753.3(ENG):c.1779G>A (p.Leu593=)
NM_001114753.3(ENG):c.1780G>A (p.Gly594Ser) rs1060501409
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala) rs1830302512
NM_001114753.3(ENG):c.179C>T (p.Ala60Val) rs146100407
NM_001114753.3(ENG):c.179_180delinsAA (p.Ala60Glu) rs1060504230
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.1815G>A (p.Leu605=) rs2131871479
NM_001114753.3(ENG):c.1826C>T (p.Ala609Val)
NM_001114753.3(ENG):c.1844C>G (p.Ser615Trp) rs148002300
NM_001114753.3(ENG):c.1845G>C (p.Ser615=) rs759950184
NM_001114753.3(ENG):c.1845G>T (p.Ser615=) rs759950184
NM_001114753.3(ENG):c.1852+1G>C rs2131871398
NM_001114753.3(ENG):c.1852+20A>G
NM_001114753.3(ENG):c.1852+21C>T
NM_001114753.3(ENG):c.1852+23G>A
NM_001114753.3(ENG):c.1852+25G>A
NM_001114753.3(ENG):c.1852+3G>A
NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_001114753.3(ENG):c.189A>G (p.Glu63=)
NM_001114753.3(ENG):c.192C>T (p.Val64=)
NM_001114753.3(ENG):c.194A>G (p.His65Arg) rs1267116267
NM_001114753.3(ENG):c.198C>T (p.Val66=)
NM_001114753.3(ENG):c.1A>C (p.Met1Leu) rs1060501418
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.200T>C (p.Leu67Pro) rs2131918396
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser) rs1831079928
NM_001114753.3(ENG):c.218_219insTCCA (p.Gly74fs)
NM_001114753.3(ENG):c.219+12A>G
NM_001114753.3(ENG):c.219+13T>A
NM_001114753.3(ENG):c.219+1G>A rs1554812253
NM_001114753.3(ENG):c.219+20G>T
NM_001114753.3(ENG):c.219+2T>C rs2131918332
NM_001114753.3(ENG):c.219+2T>G
NM_001114753.3(ENG):c.219+4_219+7del
NM_001114753.3(ENG):c.219+5G>A rs1554812252
NM_001114753.3(ENG):c.219+5G>T rs1554812252
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.219G>T (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.220-11G>C
NM_001114753.3(ENG):c.220-12T>A
NM_001114753.3(ENG):c.220-13_220-12del rs778594969
NM_001114753.3(ENG):c.220-15_220-13del rs747642549
NM_001114753.3(ENG):c.220-1G>A rs1554810936
NM_001114753.3(ENG):c.220-6C>A rs756342212
NM_001114753.3(ENG):c.220-6C>T rs756342212
NM_001114753.3(ENG):c.223C>A (p.Pro75Thr)
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser) rs376186413
NM_001114753.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter) rs1588585997
NM_001114753.3(ENG):c.229del (p.Gln77fs) rs1554810928
NM_001114753.3(ENG):c.232C>T (p.Leu78=) rs1060504229
NM_001114753.3(ENG):c.233dup (p.Glu79fs)
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter) rs763992842
NM_001114753.3(ENG):c.238C>T (p.Leu80=)
NM_001114753.3(ENG):c.239del (p.Leu80fs)
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_001114753.3(ENG):c.244del (p.Leu82fs) rs1554810921
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001114753.3(ENG):c.255C>T (p.Ser85=) rs2131895211
NM_001114753.3(ENG):c.266G>C (p.Gly89Ala)
NM_001114753.3(ENG):c.268_274del (p.Thr90fs)
NM_001114753.3(ENG):c.269C>T (p.Thr90Ile)
NM_001114753.3(ENG):c.26C>G (p.Ala9Gly)
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
NM_001114753.3(ENG):c.277C>G (p.Arg93Gly)
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.277dup (p.Arg93fs) rs1830717066
NM_001114753.3(ENG):c.278del (p.Arg93fs)
NM_001114753.3(ENG):c.27T>C (p.Ala9=) rs2131936584
NM_001114753.3(ENG):c.280G>T (p.Glu94Ter) rs1588585941
NM_001114753.3(ENG):c.283G>T (p.Val95Leu)
NM_001114753.3(ENG):c.285G>A (p.Val95=) rs1644523483
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg) rs2131895129
NM_001114753.3(ENG):c.293T>A (p.Val98Asp) rs1830715947
NM_001114753.3(ENG):c.297C>T (p.Leu99=) rs2131895105
NM_001114753.3(ENG):c.2T>G (p.Met1Arg) rs267606783
NM_001114753.3(ENG):c.310A>C (p.Ser104Arg) rs757343854
NM_001114753.3(ENG):c.314T>A (p.Val105Asp) rs1588585880
NM_001114753.3(ENG):c.315C>T (p.Val105=) rs1489927188
NM_001114753.3(ENG):c.318C>T (p.Phe106=) rs1295204585
NM_001114753.3(ENG):c.320T>G (p.Leu107Arg)
NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del) rs1830714023
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.327C>G (p.Leu109=)
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter) rs1830713927
NM_001114753.3(ENG):c.32C>T (p.Ala11Val)
NM_001114753.3(ENG):c.331G>A (p.Ala111Thr)
NM_001114753.3(ENG):c.332C>T (p.Ala111Val) rs1029247883
NM_001114753.3(ENG):c.343C>T (p.Pro115Ser) rs759368120
NM_001114753.3(ENG):c.348G>A (p.Leu116=) rs1205469132
NM_001114753.3(ENG):c.350A>C (p.His117Pro) rs1588585799
NM_001114753.3(ENG):c.359A>G (p.Tyr120Cys) rs863223533
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro) rs1829096574
NM_001114753.3(ENG):c.35T>G (p.Leu12Arg)
NM_001114753.3(ENG):c.360+12C>G rs1830711464
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.360+1G>C rs886039505
NM_001114753.3(ENG):c.360+1G>T rs886039505
NM_001114753.3(ENG):c.360+2T>C
NM_001114753.3(ENG):c.360+2dup
NM_001114753.3(ENG):c.360+4A>G rs1564457752
NM_001114753.3(ENG):c.360+4_360+7del rs2131894927
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.360+5G>C rs1060501417
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_001114753.3(ENG):c.361-11T>A
NM_001114753.3(ENG):c.361-36_370del rs2131890746
NM_001114753.3(ENG):c.370C>G (p.Leu124Val)
NM_001114753.3(ENG):c.373G>C (p.Val125Leu) rs1564456745
NM_001114753.3(ENG):c.374T>A (p.Val125Asp) rs750115837
NM_001114753.3(ENG):c.375_378dup (p.Phe127fs) rs2131890702
NM_001114753.3(ENG):c.37C>A (p.Leu13Met)
NM_001114753.3(ENG):c.387_388delinsAT (p.Pro130Ser)
NM_001114753.3(ENG):c.389C>T (p.Pro130Leu)
NM_001114753.3(ENG):c.390C>T (p.Pro130=) rs2131890682
NM_001114753.3(ENG):c.392C>A (p.Pro131Gln) rs139398993
NM_001114753.3(ENG):c.392del (p.Pro131fs) rs1554810510
NM_001114753.3(ENG):c.392dup (p.Val133fs)
NM_001114753.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_001114753.3(ENG):c.397G>T (p.Val133Phe)
NM_001114753.3(ENG):c.397del (p.Val133fs) rs1588583640
NM_001114753.3(ENG):c.397dup (p.Val133fs) rs1588583640
NM_001114753.3(ENG):c.3G>A (p.Met1Ile)
NM_001114753.3(ENG):c.400A>G (p.Asn134Asp)
NM_001114753.3(ENG):c.405dup (p.Thr136fs) rs2131890631
NM_001114753.3(ENG):c.410A>G (p.Glu137Gly)
NM_001114753.3(ENG):c.412C>T (p.Leu138=)
NM_001114753.3(ENG):c.417A>C (p.Pro139=) rs748286907
NM_001114753.3(ENG):c.417A>G (p.Pro139=)
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro) rs1554813788
NM_001114753.3(ENG):c.41_51dup (p.Ser18fs)
NM_001114753.3(ENG):c.41del (p.Leu14fs)
NM_001114753.3(ENG):c.428A>C (p.Lys143Thr)
NM_001114753.3(ENG):c.435G>C (p.Gln145His)
NM_001114753.3(ENG):c.437del (p.Ile146fs)
NM_001114753.3(ENG):c.441T>A (p.Leu147=)
NM_001114753.3(ENG):c.441T>C (p.Leu147=)
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.451G>T (p.Ala151Ser) rs2131890519
NM_001114753.3(ENG):c.456G>A (p.Glu152=) rs1588583553
NM_001114753.3(ENG):c.457A>G (p.Arg153Gly)
NM_001114753.3(ENG):c.457A>T (p.Arg153Trp) rs1323149703
NM_001114753.3(ENG):c.457_458del (p.Arg153fs) rs2131890509
NM_001114753.3(ENG):c.45C>T (p.Ala15=)
NM_001114753.3(ENG):c.461dup (p.Ile156fs) rs1830620889
NM_001114753.3(ENG):c.463_486del (p.Pro155_Leu162del)
NM_001114753.3(ENG):c.468del (p.Thr157fs) rs1830620832
NM_001114753.3(ENG):c.478dup (p.Ala160fs)
NM_001114753.3(ENG):c.482A>C (p.Glu161Ala)
NM_001114753.3(ENG):c.485T>C (p.Leu162Pro) rs2131890481
NM_001114753.3(ENG):c.487A>T (p.Asn163Tyr) rs539165395
NM_001114753.3(ENG):c.488_491del (p.Asn163fs) rs1588583530
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu) rs1830620321
NM_001114753.3(ENG):c.496dup (p.Gln166fs) rs1830620247
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro) rs994887264
NM_001114753.3(ENG):c.497A>G (p.Gln166Arg)
NM_001114753.3(ENG):c.498G>C (p.Gln166His) rs1167818567
NM_001114753.3(ENG):c.500G>T (p.Ser167Ile) rs755988915
NM_001114753.3(ENG):c.501C>T (p.Ser167=)
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn) rs2131890414
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe) rs2131890408
NM_001114753.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001114753.3(ENG):c.512G>T (p.Arg171Leu)
NM_001114753.3(ENG):c.513A>C (p.Arg171=)
NM_001114753.3(ENG):c.513A>G (p.Arg171=) rs751043726
NM_001114753.3(ENG):c.523+16A>C
NM_001114753.3(ENG):c.523+18C>T
NM_001114753.3(ENG):c.523+1G>A rs113930974
NM_001114753.3(ENG):c.523+1G>C rs113930974
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_001114753.3(ENG):c.524-10G>C
NM_001114753.3(ENG):c.524-11T>C
NM_001114753.3(ENG):c.524-14G>C
NM_001114753.3(ENG):c.527del (p.Gln176fs) rs1830603743
NM_001114753.3(ENG):c.530G>A (p.Gly177Glu) rs1830603623
NM_001114753.3(ENG):c.536T>C (p.Leu179Pro)
NM_001114753.3(ENG):c.547A>G (p.Met183Val) rs1830603171
NM_001114753.3(ENG):c.549G>A (p.Met183Ile)
NM_001114753.3(ENG):c.556G>A (p.Ala186Thr) rs1427261977
NM_001114753.3(ENG):c.558del (p.Ser187fs) rs2131889490
NM_001114753.3(ENG):c.561C>A (p.Ser187Arg)
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_001114753.3(ENG):c.562dup (p.Gln188fs) rs1588582962
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn) rs147792018
NM_001114753.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_001114753.3(ENG):c.568A>G (p.Met190Val)
NM_001114753.3(ENG):c.569T>A (p.Met190Lys) rs1830602163
NM_001114753.3(ENG):c.571_573delinsTG (p.Gly191fs) rs1830601919
NM_001114753.3(ENG):c.572del (p.Gly191fs) rs1564456374
NM_001114753.3(ENG):c.574C>G (p.Arg192Gly) rs537215880
NM_001114753.3(ENG):c.574C>T (p.Arg192Cys)
NM_001114753.3(ENG):c.575_577dup (p.Arg192_Thr193insSer)
NM_001114753.3(ENG):c.576C>G (p.Arg192=)
NM_001114753.3(ENG):c.577A>G (p.Thr193Ala) rs1588582905
NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs) rs1830601036
NM_001114753.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_001114753.3(ENG):c.580_596del (p.Leu194fs) rs2131889284
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) rs2131889364
NM_001114753.3(ENG):c.581_605del (p.Leu194fs)
NM_001114753.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_001114753.3(ENG):c.585G>C (p.Glu195Asp)
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg) rs2131889336
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) rs2131889336
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter) rs1588582870
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter) rs1588582860
NM_001114753.3(ENG):c.591G>A (p.Arg197=)
NM_001114753.3(ENG):c.592C>A (p.Pro198Thr) rs902721446
NM_001114753.3(ENG):c.593C>G (p.Pro198Arg) rs777633247
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs) rs1554810405
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
NM_001114753.3(ENG):c.600_603dup (p.Ala202fs) rs1830599875
NM_001114753.3(ENG):c.602C>A (p.Pro201Gln)
NM_001114753.3(ENG):c.605C>A (p.Ala202Asp) rs750916329
NM_001114753.3(ENG):c.606C>T (p.Ala202=) rs2131889233
NM_001114753.3(ENG):c.613C>A (p.Arg205=)
NM_001114753.3(ENG):c.613dup (p.Arg205fs)
NM_001114753.3(ENG):c.614G>A (p.Arg205Gln) rs751778614
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
NM_001114753.3(ENG):c.615G>T (p.Arg205=) rs2131889212
NM_001114753.3(ENG):c.617del (p.Gly206fs) rs1830599423
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg) rs2131889169
NM_001114753.3(ENG):c.621C>A (p.Cys207Ter) rs1440769928
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter) rs1243079862
NM_001114753.3(ENG):c.627G>A (p.Leu209=) rs763087751
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
NM_001114753.3(ENG):c.636G>A (p.Val212=)
NM_001114753.3(ENG):c.638C>A (p.Ala213Asp)
NM_001114753.3(ENG):c.639C>T (p.Ala213=)
NM_001114753.3(ENG):c.63del (p.Thr22fs)
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu) rs1830597676
NM_001114753.3(ENG):c.651G>A (p.Glu217=)
NM_001114753.3(ENG):c.654G>C (p.Ala218=) rs773156160
NM_001114753.3(ENG):c.654_655del (p.Ile220fs) rs2131889054
NM_001114753.3(ENG):c.657_658del (p.Ile220fs) rs2131889044
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001114753.3(ENG):c.65_67+19del
NM_001114753.3(ENG):c.660C>T (p.Ile220=)
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.662T>G (p.Leu221Arg) rs1554810378
NM_001114753.3(ENG):c.663G>A (p.Leu221=) rs747788064
NM_001114753.3(ENG):c.665G>A (p.Arg222Lys)
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del) rs1830596103
NM_001114753.3(ENG):c.67+1G>A rs1554813783
NM_001114753.3(ENG):c.67+20G>T
NM_001114753.3(ENG):c.67+2T>C rs2131936480
NM_001114753.3(ENG):c.67+5G>T
NM_001114753.3(ENG):c.672G>A (p.Leu224=) rs746358974
NM_001114753.3(ENG):c.673C>A (p.Pro225Thr)
NM_001114753.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_001114753.3(ENG):c.674C>A (p.Pro225Gln)
NM_001114753.3(ENG):c.674C>G (p.Pro225Arg)
NM_001114753.3(ENG):c.674del (p.Pro225fs) rs1830596596
NM_001114753.3(ENG):c.679_689+7del
NM_001114753.3(ENG):c.67A>C (p.Ser23Arg)
NM_001114753.3(ENG):c.67del (p.Ser23fs) rs878853658
NM_001114753.3(ENG):c.68-18C>A rs372807542
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.68-2A>T
NM_001114753.3(ENG):c.68-3C>G rs773334730
NM_001114753.3(ENG):c.68-4A>G rs1564462843
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr) rs2131888946
NM_001114753.3(ENG):c.683C>A (p.Ser228Ter) rs1452543778
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg) rs546671241
NM_001114753.3(ENG):c.689+11C>T
NM_001114753.3(ENG):c.689+12G>C rs759600714
NM_001114753.3(ENG):c.689+14C>T
NM_001114753.3(ENG):c.689+15C>A
NM_001114753.3(ENG):c.689+15C>T rs766360447
NM_001114753.3(ENG):c.689+16C>T
NM_001114753.3(ENG):c.689+1G>A rs1588582594
NM_001114753.3(ENG):c.689+1G>T
NM_001114753.3(ENG):c.689+20C>A
NM_001114753.3(ENG):c.689+21_689+22del
NM_001114753.3(ENG):c.689+2T>A rs863223535
NM_001114753.3(ENG):c.689+3A>T
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr) rs1253367171
NM_001114753.3(ENG):c.690-16G>A
NM_001114753.3(ENG):c.690-17C>A rs199525659
NM_001114753.3(ENG):c.690-18G>A
NM_001114753.3(ENG):c.690-18G>C rs376779134
NM_001114753.3(ENG):c.690-19C>T
NM_001114753.3(ENG):c.690-19del rs557108998
NM_001114753.3(ENG):c.690-1G>A rs1554810272
NM_001114753.3(ENG):c.690-1G>C rs1554810272
NM_001114753.3(ENG):c.690-2A>T rs1564455970
NM_001114753.3(ENG):c.690-5C>A
NM_001114753.3(ENG):c.692C>A (p.Pro231His) rs1289232116
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del) rs2131888057
NM_001114753.3(ENG):c.695G>T (p.Arg232Leu) rs772467926
NM_001114753.3(ENG):c.697_699del (p.Thr233del)
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.699G>A (p.Thr233=)
NM_001114753.3(ENG):c.704C>A (p.Thr235Lys) rs1361480439
NM_001114753.3(ENG):c.705G>C (p.Thr235=) rs755116051
NM_001114753.3(ENG):c.706G>A (p.Val236Met)
NM_001114753.3(ENG):c.706_708del (p.Val236del) rs1064794221
NM_001114753.3(ENG):c.707T>A (p.Val236Glu) rs1588582073
NM_001114753.3(ENG):c.712G>T (p.Val238Leu)
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_001114753.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_001114753.3(ENG):c.716A>T (p.Glu239Val)
NM_001114753.3(ENG):c.718C>T (p.Leu240=)
NM_001114753.3(ENG):c.720G>A (p.Leu240=)
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.728C>T (p.Ala243Val)
NM_001114753.3(ENG):c.729A>C (p.Ala243=) rs1242657224
NM_001114753.3(ENG):c.743del (p.Asp248fs) rs1588581961
NM_001114753.3(ENG):c.747C>G (p.Ala249=)
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
NM_001114753.3(ENG):c.752_768del (p.Leu251fs) rs1830580547
NM_001114753.3(ENG):c.753C>T (p.Leu251=) rs1830581337
NM_001114753.3(ENG):c.753_781del (p.Ile252fs) rs1588581867
NM_001114753.3(ENG):c.754_756del (p.Ile252del)
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr) rs2131887851
NM_001114753.3(ENG):c.764G>T (p.Gly255Val) rs2131887828
NM_001114753.3(ENG):c.765del (p.Tyr258fs) rs1554810232
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser) rs143779963
NM_001114753.3(ENG):c.766_776del (p.Pro256fs) rs1830579764
NM_001114753.3(ENG):c.767_786del (p.Pro256fs) rs2131887701
NM_001114753.3(ENG):c.769C>G (p.Pro257Ala) rs1830580408
NM_001114753.3(ENG):c.770C>T (p.Pro257Leu) rs756252418
NM_001114753.3(ENG):c.770_771del (p.Pro257fs) rs1588581902
NM_001114753.3(ENG):c.771del (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.772del (p.Tyr258fs) rs1830580093
NM_001114753.3(ENG):c.773_776delinsGCAGGGTC (p.Tyr258fs)
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter) rs537154767
NM_001114753.3(ENG):c.775G>A (p.Val259Met)
NM_001114753.3(ENG):c.776del (p.Val259fs) rs1588581880
NM_001114753.3(ENG):c.777G>T (p.Val259=) rs2131887746
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs) rs1830579577
NM_001114753.3(ENG):c.778dup (p.Ser260fs) rs2131887737
NM_001114753.3(ENG):c.782G>A (p.Trp261Ter) rs1060501420
NM_001114753.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
NM_001114753.3(ENG):c.787_789del (p.Ile263del) rs1830579035
NM_001114753.3(ENG):c.789C>T (p.Ile263=)
NM_001114753.3(ENG):c.790_798del (p.Asp264_Asn266del) rs2131887656
NM_001114753.3(ENG):c.794C>A (p.Ala265Asp) rs2131887657
NM_001114753.3(ENG):c.799_804del (p.His267_Asn268del) rs1588581812
NM_001114753.3(ENG):c.79A>G (p.Thr27Ala)
NM_001114753.3(ENG):c.7C>G (p.Arg3Gly) rs139334561
NM_001114753.3(ENG):c.806T>A (p.Met269Lys) rs752331196
NM_001114753.3(ENG):c.806T>C (p.Met269Thr) rs752331196
NM_001114753.3(ENG):c.806T>G (p.Met269Arg) rs752331196
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.809A>G (p.Gln270Arg)
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter) rs1588581785
NM_001114753.3(ENG):c.816+11C>T
NM_001114753.3(ENG):c.816+13C>T
NM_001114753.3(ENG):c.816+20C>T
NM_001114753.3(ENG):c.816+2T>C
NM_001114753.3(ENG):c.816+8G>A
NM_001114753.3(ENG):c.816+9T>A rs1830577813
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter) rs886041326
NM_001114753.3(ENG):c.817-1G>C rs1564455715
NM_001114753.3(ENG):c.817-3T>C
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_001114753.3(ENG):c.819C>T (p.Thr273=) rs2131887210
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile) rs1169613826
NM_001114753.3(ENG):c.822T>C (p.Thr274=) rs2131887195
NM_001114753.3(ENG):c.824G>A (p.Gly275Glu) rs2131887192
NM_001114753.3(ENG):c.825A>G (p.Gly275=)
NM_001114753.3(ENG):c.828del (p.Glu276fs)
NM_001114753.3(ENG):c.829T>C (p.Tyr277His) rs1460443094
NM_001114753.3(ENG):c.830A>G (p.Tyr277Cys)
NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter) rs121918400
NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter) rs121918400
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
NM_001114753.3(ENG):c.836T>G (p.Phe279Cys)
NM_001114753.3(ENG):c.836del (p.Phe279fs) rs2131887155
NM_001114753.3(ENG):c.844T>G (p.Phe282Val)
NM_001114753.3(ENG):c.851del (p.Glu284fs) rs2131887114
NM_001114753.3(ENG):c.854A>G (p.Lys285Arg)
NM_001114753.3(ENG):c.862C>T (p.Arg288Cys)
NM_001114753.3(ENG):c.863_867dup (p.Phe290fs) rs2131887087
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp) rs1830570208
NM_001114753.3(ENG):c.867C>T (p.Gly289=) rs2131887082
NM_001114753.3(ENG):c.870C>T (p.Phe290=) rs1830570141
NM_001114753.3(ENG):c.872_874delinsT (p.Lys291fs)
NM_001114753.3(ENG):c.872_883del (p.Lys291_Asp294del) rs2131887067
NM_001114753.3(ENG):c.875dup (p.Asp294fs)
NM_001114753.3(ENG):c.880_881del (p.Asp294fs) rs886042916
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile) rs12042
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu) rs1830569895
NM_001114753.3(ENG):c.88T>A (p.Cys30Ser) rs1564462834
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg) rs1564462834
NM_001114753.3(ENG):c.895C>G (p.Leu299Val)
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg) rs1830569662
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
NM_001114753.3(ENG):c.8G>A (p.Arg3His) rs1588604597
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg) rs1830569316
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_001114753.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001114753.3(ENG):c.910C>G (p.Arg304Gly) rs754842280
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp) rs754842280
NM_001114753.3(ENG):c.911_918del (p.Arg304fs) rs1564455604
NM_001114753.3(ENG):c.919A>G (p.Asn307Asp) rs1830568253
NM_001114753.3(ENG):c.91G>A (p.Asp31Asn) rs1831084391
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_001114753.3(ENG):c.922dup (p.Ala308fs) rs2131886942
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) rs1482440395
NM_001114753.3(ENG):c.923_925dup (p.Ala308_Ser309insThr) rs1830567981
NM_001114753.3(ENG):c.924_927dup (p.Ile310fs)
NM_001114753.3(ENG):c.932T>G (p.Val311Gly)
NM_001114753.3(ENG):c.933G>A (p.Val311=)
NM_001114753.3(ENG):c.933G>T (p.Val311=)
NM_001114753.3(ENG):c.942C>T (p.Phe314=) rs767171893
NM_001114753.3(ENG):c.943G>T (p.Val315Leu)
NM_001114753.3(ENG):c.944_945del (p.Val315fs)
NM_001114753.3(ENG):c.950T>A (p.Leu317Gln)
NM_001114753.3(ENG):c.950T>C (p.Leu317Pro)
NM_001114753.3(ENG):c.951_956del (p.Pro318_Leu319del) rs1830567220
NM_001114753.3(ENG):c.952C>A (p.Pro318Thr)
NM_001114753.3(ENG):c.953C>G (p.Pro318Arg) rs1830567408
NM_001114753.3(ENG):c.954G>T (p.Pro318=) rs149590262
NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs)
NM_001114753.3(ENG):c.956T>G (p.Leu319Arg)
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
NM_001114753.3(ENG):c.965T>C (p.Ile322Thr)
NM_001114753.3(ENG):c.965_966del (p.Ile322fs)
NM_001114753.3(ENG):c.966T>G (p.Ile322Met)
NM_001114753.3(ENG):c.966dup (p.Val323fs)
NM_001114753.3(ENG):c.96T>C (p.Leu32=)
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro) rs1830566735
NM_001114753.3(ENG):c.973dup (p.Leu325fs)
NM_001114753.3(ENG):c.974T>A (p.Leu325His)
NM_001114753.3(ENG):c.982T>A (p.Ser328Thr)
NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter) rs1588581338
NM_001114753.3(ENG):c.985A>T (p.Ser329Cys) rs1280918470
NM_001114753.3(ENG):c.989G>T (p.Cys330Phe)
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
NM_001114753.3(ENG):c.991+1del
NM_001114753.3(ENG):c.991+2T>C rs1564455554
NM_001114753.3(ENG):c.991+2T>G rs1564455554
NM_001114753.3(ENG):c.991+4A>G rs2131886797
NM_001114753.3(ENG):c.991+7A>G
NM_001114753.3(ENG):c.991+8C>A rs2131886790
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001114753.3(ENG):c.992-2A>G rs1588580932
NM_001114753.3(ENG):c.992-3C>G rs1830552318
NM_001114753.3(ENG):c.992-3C>T rs1830552318
NM_001114753.3(ENG):c.992-49_1046del
NM_001114753.3(ENG):c.992-4A>G rs1316539915
NM_001114753.3(ENG):c.992-5C>A rs765715581
NM_001114753.3(ENG):c.992-6C>T rs756890201
NM_001114753.3(ENG):c.992-8C>T
NM_001114753.3(ENG):c.992G>T (p.Gly331Val)
NM_001114753.3(ENG):c.996T>C (p.Gly332=) rs759964114
NM_001114753.3(ENG):c.996_997dup (p.Arg333fs) rs2131886094
NM_001114753.3(ENG):c.997_1001del (p.Arg333fs)
NM_001114753.3(ENG):c.998G>A (p.Arg333Lys)
NM_001364075.2(CCNH):c.934-28498_934-28494del
NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs) rs1554048061
NM_002890.3(RASA1):c.1000G>C (p.Asp334His)
NM_002890.3(RASA1):c.1017+14T>G
NM_002890.3(RASA1):c.1017delinsTTAC (p.Val339_Gly340insTyr) rs1758104033
NM_002890.3(RASA1):c.1018-15A>C
NM_002890.3(RASA1):c.1018-19C>T
NM_002890.3(RASA1):c.1018-3T>C
NM_002890.3(RASA1):c.1019G>T (p.Gly340Val)
NM_002890.3(RASA1):c.1020C>T (p.Gly340=) rs1356089893
NM_002890.3(RASA1):c.1021C>T (p.Arg341Trp)
NM_002890.3(RASA1):c.1023G>A (p.Arg341=) rs2112398085
NM_002890.3(RASA1):c.1029A>G (p.Glu343=)
NM_002890.3(RASA1):c.1049+13T>C
NM_002890.3(RASA1):c.1049+14A>T rs2112398215
NM_002890.3(RASA1):c.1049+5G>T rs1580307103
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter) rs1758886343
NM_002890.3(RASA1):c.1053G>A (p.Trp351Ter)
NM_002890.3(RASA1):c.1055T>C (p.Phe352Ser) rs2112414697
NM_002890.3(RASA1):c.1092A>G (p.Leu364=)
NM_002890.3(RASA1):c.1092A>T (p.Leu364Phe) rs375419221
NM_002890.3(RASA1):c.1099A>G (p.Thr367Ala)
NM_002890.3(RASA1):c.1102+4C>T
NM_002890.3(RASA1):c.1102+6T>A
NM_002890.3(RASA1):c.1103-14C>G
NM_002890.3(RASA1):c.1110A>G (p.Gln370=)
NM_002890.3(RASA1):c.1113C>G (p.Val371=)
NM_002890.3(RASA1):c.1116C>T (p.Cys372=) rs2112421478
NM_002890.3(RASA1):c.111G>C (p.Lys37Asn)
NM_002890.3(RASA1):c.1130_1144dup (p.Asn381_Thr382insArgProSerAspAsn)
NM_002890.3(RASA1):c.1134del (p.Ser379fs)
NM_002890.3(RASA1):c.1141A>G (p.Asn381Asp) rs1060503437
NM_002890.3(RASA1):c.1151G>C (p.Gly384Ala)
NM_002890.3(RASA1):c.1158T>C (p.Tyr386=)
NM_002890.3(RASA1):c.1161A>C (p.Ser387=)
NM_002890.3(RASA1):c.1164_1165del (p.Tyr389fs) rs1759087658
NM_002890.3(RASA1):c.116C>T (p.Pro39Leu)
NM_002890.3(RASA1):c.1185T>C (p.Asn395=) rs2112421663
NM_002890.3(RASA1):c.118G>A (p.Ala40Thr)
NM_002890.3(RASA1):c.118G>T (p.Ala40Ser)
NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter) rs1210180190
NM_002890.3(RASA1):c.1203A>G (p.Ile401Met)
NM_002890.3(RASA1):c.1210A>G (p.Thr404Ala)
NM_002890.3(RASA1):c.1211C>T (p.Thr404Met)
NM_002890.3(RASA1):c.1218C>A (p.Asn406Lys) rs1759092483
NM_002890.3(RASA1):c.1219A>T (p.Asn407Tyr) rs763292074
NM_002890.3(RASA1):c.1220_1223del (p.Asn407fs)
NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter) rs1759093156
NM_002890.3(RASA1):c.123C>G (p.Ala41=)
NM_002890.3(RASA1):c.123C>T (p.Ala41=)
NM_002890.3(RASA1):c.1241G>A (p.Arg414Gln)
NM_002890.3(RASA1):c.1248T>G (p.Tyr416Ter) rs1561300506
NM_002890.3(RASA1):c.1253+17dup
NM_002890.3(RASA1):c.1253+19G>A rs374702293
NM_002890.3(RASA1):c.1253+2T>C
NM_002890.3(RASA1):c.1253+5A>G
NM_002890.3(RASA1):c.1253+6T>C rs2112421845
NM_002890.3(RASA1):c.1254-11T>C
NM_002890.3(RASA1):c.1254-12T>G
NM_002890.3(RASA1):c.1254-19G>C rs2112431607
NM_002890.3(RASA1):c.1255A>G (p.Ile419Val)
NM_002890.3(RASA1):c.1257dup (p.Gly420fs) rs1759404954
NM_002890.3(RASA1):c.1260G>A (p.Gly420=)
NM_002890.3(RASA1):c.1261G>A (p.Asp421Asn)
NM_002890.3(RASA1):c.1263C>T (p.Asp421=) rs2112431699
NM_002890.3(RASA1):c.1267A>G (p.Ile423Val)
NM_002890.3(RASA1):c.1279C>A (p.Arg427=)
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter) rs975191415
NM_002890.3(RASA1):c.1298A>C (p.Glu433Ala) rs1759407260
NM_002890.3(RASA1):c.129T>C (p.Pro43=)
NM_002890.3(RASA1):c.1300G>A (p.Gly434Arg) rs753506212
NM_002890.3(RASA1):c.1302A>C (p.Gly434=)
NM_002890.3(RASA1):c.1306T>A (p.Tyr436Asn)
NM_002890.3(RASA1):c.1319del (p.Pro440fs) rs2112431809
NM_002890.3(RASA1):c.1321G>A (p.Val441Ile)
NM_002890.3(RASA1):c.1325C>T (p.Pro442Leu)
NM_002890.3(RASA1):c.1327A>G (p.Met443Val)
NM_002890.3(RASA1):c.132_152delinsACAGCGAAACTCCATCTCTCAAAAAAAAAAAAAAAAAAAAAGAAGTCTACTAAAAACAGTTTTTTTTAACTACAATATCCTAAATATACCTAATTTAGTTATAAACTAGCATAAGACTAGATTCTTTCAGTATGAAAAGTT (p.Ala45_Gly51delinsGlnArgAsnSerIleSerGlnLysLysLysLysLysLysArgSerLeuLeuLysThrValPhePheAsnTyrAsnIleLeuAsnIleProAsnLeuValIleAsnTer)
NM_002890.3(RASA1):c.1332+11C>G
NM_002890.3(RASA1):c.1332+2T>G rs1759410564
NM_002890.3(RASA1):c.1332+3C>G
NM_002890.3(RASA1):c.1333-10dup rs775819060
NM_002890.3(RASA1):c.1333-13T>C
NM_002890.3(RASA1):c.1333-17_1340del rs1760184679
NM_002890.3(RASA1):c.1333-18A>G rs2112456229
NM_002890.3(RASA1):c.1333-19A>T
NM_002890.3(RASA1):c.1335T>C (p.Asp445=)
NM_002890.3(RASA1):c.1336C>G (p.Gln446Glu) rs2112456363
NM_002890.3(RASA1):c.1336C>T (p.Gln446Ter) rs2112456363
NM_002890.3(RASA1):c.1339_1352del (p.Gln446_Glu447insTer)
NM_002890.3(RASA1):c.1341A>G (p.Glu447=)
NM_002890.3(RASA1):c.1345G>C (p.Val449Leu)
NM_002890.3(RASA1):c.1347A>G (p.Val449=) rs2112456458
NM_002890.3(RASA1):c.1349T>C (p.Leu450Pro)
NM_002890.3(RASA1):c.1355A>C (p.Asp452Ala)
NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs) rs1060503439
NM_002890.3(RASA1):c.1362G>A (p.Val454=)
NM_002890.3(RASA1):c.1363G>A (p.Asp455Asn)
NM_002890.3(RASA1):c.1377C>T (p.Ile459=)
NM_002890.3(RASA1):c.1389C>A (p.Ile463=)
NM_002890.3(RASA1):c.1389C>T (p.Ile463=) rs2112456838
NM_002890.3(RASA1):c.138C>T (p.Ala46=)
NM_002890.3(RASA1):c.1390C>T (p.Arg464Cys) rs1760197131
NM_002890.3(RASA1):c.1394G>T (p.Arg465Leu)
NM_002890.3(RASA1):c.1413T>A (p.Phe471Leu)
NM_002890.3(RASA1):c.1413T>C (p.Phe471=)
NM_002890.3(RASA1):c.141C>G (p.Ala47=)
NM_002890.3(RASA1):c.1429A>T (p.Lys477Ter)
NM_002890.3(RASA1):c.142C>G (p.Pro48Ala)
NM_002890.3(RASA1):c.142C>T (p.Pro48Ser)
NM_002890.3(RASA1):c.1438T>C (p.Tyr480His)
NM_002890.3(RASA1):c.143C>A (p.Pro48His) rs1580178676
NM_002890.3(RASA1):c.143C>G (p.Pro48Arg) rs1580178676
NM_002890.3(RASA1):c.1444C>T (p.Leu482=) rs1435317488
NM_002890.3(RASA1):c.144C>T (p.Pro48=)
NM_002890.3(RASA1):c.1453+10G>A
NM_002890.3(RASA1):c.1453+15_1453+16del rs777254176
NM_002890.3(RASA1):c.1453+19C>T rs2112457518
NM_002890.3(RASA1):c.1453+20A>T
NM_002890.3(RASA1):c.1453+20dup
NM_002890.3(RASA1):c.1453+2T>C
NM_002890.3(RASA1):c.1453+8C>T
NM_002890.3(RASA1):c.1453G>A (p.Gly485Ser)
NM_002890.3(RASA1):c.1454-12_1454-7del rs60835976
NM_002890.3(RASA1):c.1454-13T>G
NM_002890.3(RASA1):c.1454-19_1454-18del rs1417225762
NM_002890.3(RASA1):c.1454-20_1454-18del rs961769740
NM_002890.3(RASA1):c.1454-7del rs60835976
NM_002890.3(RASA1):c.1454-7dup rs60835976
NM_002890.3(RASA1):c.1454-9_1454-7del
NM_002890.3(RASA1):c.1463A>G (p.Lys488Arg)
NM_002890.3(RASA1):c.1464A>G (p.Lys488=)
NM_002890.3(RASA1):c.1467T>C (p.Arg489=)
NM_002890.3(RASA1):c.1479A>G (p.Leu493=)
NM_002890.3(RASA1):c.149C>T (p.Pro50Leu)
NM_002890.3(RASA1):c.1504G>A (p.Ala502Thr)
NM_002890.3(RASA1):c.1504_1505delinsTT (p.Ala502Phe) rs2112459571
NM_002890.3(RASA1):c.1509A>G (p.Gln503=)
NM_002890.3(RASA1):c.1512T>C (p.Leu504=)
NM_002890.3(RASA1):c.1527C>T (p.Ser509=)
NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter) rs1554048066
NM_002890.3(RASA1):c.1535G>A (p.Arg512Gln) rs1760264098
NM_002890.3(RASA1):c.1544A>G (p.Lys515Arg)
NM_002890.3(RASA1):c.154C>G (p.Leu52Val)
NM_002890.3(RASA1):c.1556T>G (p.Leu519Ter)
NM_002890.3(RASA1):c.1561_1562dup (p.Asp521fs)
NM_002890.3(RASA1):c.1577del (p.Ser526fs)
NM_002890.3(RASA1):c.1579_1582del (p.Val527fs) rs1760265136
NM_002890.3(RASA1):c.157G>C (p.Val53Leu) rs2112222387
NM_002890.3(RASA1):c.1584T>C (p.Tyr528=) rs1448608354
NM_002890.3(RASA1):c.1599T>C (p.Ser533=)
NM_002890.3(RASA1):c.1610+20T>C
NM_002890.3(RASA1):c.1610+3A>G
NM_002890.3(RASA1):c.1610+8A>G
NM_002890.3(RASA1):c.1611-14T>C rs2112474644
NM_002890.3(RASA1):c.1611-15G>A rs1760796647
NM_002890.3(RASA1):c.1611-17T>C
NM_002890.3(RASA1):c.1611-2del rs973746295
NM_002890.3(RASA1):c.1615A>C (p.Asn539His)
NM_002890.3(RASA1):c.1627A>G (p.Ile543Val) rs1760799694
NM_002890.3(RASA1):c.163A>G (p.Thr55Ala) rs1335075421
NM_002890.3(RASA1):c.1642T>C (p.Phe548Leu)
NM_002890.3(RASA1):c.1644T>G (p.Phe548Leu) rs749876769
NM_002890.3(RASA1):c.1651G>A (p.Glu551Lys) rs878854568
NM_002890.3(RASA1):c.1653A>C (p.Glu551Asp)
NM_002890.3(RASA1):c.1654C>T (p.His552Tyr)
NM_002890.3(RASA1):c.1657T>G (p.Tyr553Asp)
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter) rs747745016
NM_002890.3(RASA1):c.1661T>A (p.Ile554Asn)
NM_002890.3(RASA1):c.1665T>C (p.Phe555=)
NM_002890.3(RASA1):c.1671T>C (p.Phe557=)
NM_002890.3(RASA1):c.1673C>A (p.Ala558Glu)
NM_002890.3(RASA1):c.1683T>C (p.Thr561=)
NM_002890.3(RASA1):c.1698+16C>A
NM_002890.3(RASA1):c.1698+2T>C rs1561316757
NM_002890.3(RASA1):c.1698+3A>G
NM_002890.3(RASA1):c.1698+5G>A
NM_002890.3(RASA1):c.1698+6A>G
NM_002890.3(RASA1):c.1698+7T>C
NM_002890.3(RASA1):c.1698+7_1698+8delinsCA
NM_002890.3(RASA1):c.169G>A (p.Val57Met) rs2112222422
NM_002890.3(RASA1):c.1707G>A (p.Met569Ile) rs2112480036
NM_002890.3(RASA1):c.1710A>G (p.Lys570=)
NM_002890.3(RASA1):c.1716G>C (p.Leu572=)
NM_002890.3(RASA1):c.1719G>C (p.Gln573His) rs1760995498
NM_002890.3(RASA1):c.171G>A (p.Val57=) rs750118245
NM_002890.3(RASA1):c.171G>C (p.Val57=)
NM_002890.3(RASA1):c.172_173del (p.Ala58fs) rs2112222433
NM_002890.3(RASA1):c.1745G>A (p.Ser582Asn)
NM_002890.3(RASA1):c.1751G>A (p.Gly584Glu) rs2112480098
NM_002890.3(RASA1):c.1754C>T (p.Thr585Ile)
NM_002890.3(RASA1):c.1760A>G (p.Asn587Ser) rs894219060
NM_002890.3(RASA1):c.1762A>C (p.Lys588Gln) rs2112480128
NM_002890.3(RASA1):c.1771C>T (p.Arg591Cys)
NM_002890.3(RASA1):c.1772G>A (p.Arg591His) rs1760998312
NM_002890.3(RASA1):c.1774C>A (p.Gln592Lys) rs1173108838
NM_002890.3(RASA1):c.1776+4A>G
NM_002890.3(RASA1):c.1776+5A>G rs1294232515
NM_002890.3(RASA1):c.1777-15_1777-14insATA rs202147617
NM_002890.3(RASA1):c.1777-15_1777-14insATT rs2112484603
NM_002890.3(RASA1):c.1777-17dup rs1761148482
NM_002890.3(RASA1):c.1777-18A>G
NM_002890.3(RASA1):c.1777-18A>T rs779403478
NM_002890.3(RASA1):c.1777-20_1777-14del
NM_002890.3(RASA1):c.1777-21_1777-17del rs1761146991
NM_002890.3(RASA1):c.1777-2A>T rs1361155142
NM_002890.3(RASA1):c.1777-3T>A rs1580380301
NM_002890.3(RASA1):c.1777-3del rs377722838
NM_002890.3(RASA1):c.1777-3dup rs377722838
NM_002890.3(RASA1):c.1777-7T>G rs2112484670
NM_002890.3(RASA1):c.1780A>G (p.Ser594Gly) rs1761152940
NM_002890.3(RASA1):c.1784G>C (p.Ser595Thr)
NM_002890.3(RASA1):c.1795C>T (p.His599Tyr) rs2112484750
NM_002890.3(RASA1):c.1795delinsGTAAA (p.His599fs) rs1761153296
NM_002890.3(RASA1):c.1796A>C (p.His599Pro) rs2112484763
NM_002890.3(RASA1):c.1798A>G (p.Ile600Val)
NM_002890.3(RASA1):c.17_28del (p.Ala6_Glu9del) rs2112221984
NM_002890.3(RASA1):c.17_31del (p.Ala6_Glu10del)
NM_002890.3(RASA1):c.1802AAG[1] (p.Glu602del)
NM_002890.3(RASA1):c.1806_1817del (p.Glu602_Leu606delinsAsp) rs2112484781
NM_002890.3(RASA1):c.1818C>T (p.Leu606=)
NM_002890.3(RASA1):c.1828C>T (p.His610Tyr)
NM_002890.3(RASA1):c.1833T>C (p.Phe611=)
NM_002890.3(RASA1):c.1835C>T (p.Thr612Ile)
NM_002890.3(RASA1):c.1839T>C (p.Asn613=) rs1266113061
NM_002890.3(RASA1):c.1852A>G (p.Ile618Val)
NM_002890.3(RASA1):c.1857C>T (p.Tyr619=)
NM_002890.3(RASA1):c.1859T>C (p.Leu620Pro) rs1554049169
NM_002890.3(RASA1):c.1864A>G (p.Ser622Gly)
NM_002890.3(RASA1):c.1873G>C (p.Val625Leu)
NM_002890.3(RASA1):c.1874T>C (p.Val625Ala) rs780784579
NM_002890.3(RASA1):c.1886A>T (p.His629Leu)
NM_002890.3(RASA1):c.1887T>C (p.His629=)
NM_002890.3(RASA1):c.1888G>C (p.Ala630Pro) rs1580380538
NM_002890.3(RASA1):c.188G>T (p.Gly63Val) rs754945616
NM_002890.3(RASA1):c.1890A>G (p.Ala630=)
NM_002890.3(RASA1):c.1897G>A (p.Gly633Arg)
NM_002890.3(RASA1):c.1914G>T (p.Trp638Cys) rs1761159517
NM_002890.3(RASA1):c.1915T>A (p.Ser639Thr) rs2112485002
NM_002890.3(RASA1):c.1916C>G (p.Ser639Ter)
NM_002890.3(RASA1):c.1917A>G (p.Ser639=)
NM_002890.3(RASA1):c.1926dup (p.Val643fs) rs2112485022
NM_002890.3(RASA1):c.1932dup (p.Asp645Ter)
NM_002890.3(RASA1):c.1934+11T>C
NM_002890.3(RASA1):c.1934+17_1934+19del
NM_002890.3(RASA1):c.1934+2T>G rs1761160392
NM_002890.3(RASA1):c.1934+6T>C
NM_002890.3(RASA1):c.1934+8T>G rs2112485081
NM_002890.3(RASA1):c.1935-14C>T rs749192205
NM_002890.3(RASA1):c.1935-19T>C
NM_002890.3(RASA1):c.1935-3T>G rs201249348
NM_002890.3(RASA1):c.1943C>T (p.Pro648Leu) rs1761214742
NM_002890.3(RASA1):c.1955A>G (p.Asn652Ser)
NM_002890.3(RASA1):c.1956T>C (p.Asn652=) rs2112486940
NM_002890.3(RASA1):c.195C>T (p.Ala65=) rs184163840
NM_002890.3(RASA1):c.1984_1988del (p.Thr662fs) rs2112486996
NM_002890.3(RASA1):c.1990_1994del (p.Lys664fs)
NM_002890.3(RASA1):c.1994G>A (p.Ser665Asn)
NM_002890.3(RASA1):c.19G>C (p.Gly7Arg)
NM_002890.3(RASA1):c.1A>G (p.Met1Val)
NM_002890.3(RASA1):c.2011+10T>C
NM_002890.3(RASA1):c.2011+12_2011+13dup
NM_002890.3(RASA1):c.2011+15A>G
NM_002890.3(RASA1):c.2011+1G>A
NM_002890.3(RASA1):c.2011+1G>T
NM_002890.3(RASA1):c.2011+6T>A rs1554049237
NM_002890.3(RASA1):c.2012-15_2012-12del
NM_002890.3(RASA1):c.2012-17T>G
NM_002890.3(RASA1):c.2012-18C>T
NM_002890.3(RASA1):c.2012-1G>A rs2112490726
NM_002890.3(RASA1):c.2012-20T>C
NM_002890.3(RASA1):c.2012-2A>G rs2112490719
NM_002890.3(RASA1):c.2012-7T>C
NM_002890.3(RASA1):c.2013A>T (p.Leu671Phe)
NM_002890.3(RASA1):c.2021G>A (p.Arg674His)
NM_002890.3(RASA1):c.2027A>C (p.Gln676Pro) rs1425470015
NM_002890.3(RASA1):c.2027A>T (p.Gln676Leu)
NM_002890.3(RASA1):c.202G>A (p.Gly68Arg) rs1580178771
NM_002890.3(RASA1):c.202G>C (p.Gly68Arg)
NM_002890.3(RASA1):c.2030T>G (p.Leu677Trp)
NM_002890.3(RASA1):c.2035C>T (p.Arg679Ter) rs1554049394
NM_002890.3(RASA1):c.2036G>A (p.Arg679Gln)
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.2052T>C (p.His684=) rs998050505
NM_002890.3(RASA1):c.2067G>C (p.Trp689Cys)
NM_002890.3(RASA1):c.2070T>A (p.Phe690Leu)
NM_002890.3(RASA1):c.2077A>G (p.Ser693Gly)
NM_002890.3(RASA1):c.2083C>T (p.His695Tyr)
NM_002890.3(RASA1):c.2084A>T (p.His695Leu)
NM_002890.3(RASA1):c.2087T>C (p.Ile696Thr) rs2112490891
NM_002890.3(RASA1):c.2088A>G (p.Ile696Met)
NM_002890.3(RASA1):c.2089C>A (p.Pro697Thr) rs759711265
NM_002890.3(RASA1):c.208G>C (p.Glu70Gln)
NM_002890.3(RASA1):c.2092T>C (p.Leu698=)
NM_002890.3(RASA1):c.2102T>C (p.Ile701Thr)
NM_002890.3(RASA1):c.2112G>A (p.Gly704=) rs374292148
NM_002890.3(RASA1):c.2112G>T (p.Gly704=) rs374292148
NM_002890.3(RASA1):c.2116C>T (p.Leu706=)
NM_002890.3(RASA1):c.211T>C (p.Phe71Leu) rs2112222520
NM_002890.3(RASA1):c.2125C>T (p.Arg709Ter) rs1554049422
NM_002890.3(RASA1):c.2126G>A (p.Arg709Gln)
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.2134T>C (p.Tyr712His) rs1027956355
NM_002890.3(RASA1):c.2136C>G (p.Tyr712Ter)
NM_002890.3(RASA1):c.2136C>T (p.Tyr712=)
NM_002890.3(RASA1):c.2145A>C (p.Glu715Asp)
NM_002890.3(RASA1):c.2149dup (p.Ile717fs) rs1561322357
NM_002890.3(RASA1):c.2155C>A (p.Pro719Thr)
NM_002890.3(RASA1):c.2160A>C (p.Glu720Asp)
NM_002890.3(RASA1):c.2160A>G (p.Glu720=)
NM_002890.3(RASA1):c.2161G>A (p.Glu721Lys)
NM_002890.3(RASA1):c.2182G>T (p.Glu728Ter) rs1761341113
NM_002890.3(RASA1):c.2184+13_2184+14dup
NM_002890.3(RASA1):c.2184+14T>G
NM_002890.3(RASA1):c.2184+15A>C
NM_002890.3(RASA1):c.2184+15A>G
NM_002890.3(RASA1):c.2185-17_2185-16del
NM_002890.3(RASA1):c.2191C>A (p.Leu731Met)
NM_002890.3(RASA1):c.2200G>C (p.Glu734Gln)
NM_002890.3(RASA1):c.2208T>C (p.His736=) rs756153877
NM_002890.3(RASA1):c.220G>T (p.Ala74Ser) rs980967533
NM_002890.3(RASA1):c.2210T>C (p.Val737Ala)
NM_002890.3(RASA1):c.2232A>G (p.Val744=)
NM_002890.3(RASA1):c.2235T>C (p.Cys745=) rs2112492112
NM_002890.3(RASA1):c.2239C>A (p.Gln747Lys) rs1561322754
NM_002890.3(RASA1):c.223G>C (p.Gly75Arg) rs1336430934
NM_002890.3(RASA1):c.2251C>T (p.Leu751=)
NM_002890.3(RASA1):c.2263A>G (p.Ile755Val) rs1180041614
NM_002890.3(RASA1):c.2268A>T (p.Leu756=)
NM_002890.3(RASA1):c.226_227delinsAT (p.Ser76Ile)
NM_002890.3(RASA1):c.2287G>A (p.Glu763Lys)
NM_002890.3(RASA1):c.2294T>G (p.Leu765Arg)
NM_002890.3(RASA1):c.2300C>G (p.Ser767Trp)
NM_002890.3(RASA1):c.2303T>C (p.Leu768Ser)
NM_002890.3(RASA1):c.2304G>A (p.Leu768=)
NM_002890.3(RASA1):c.230T>G (p.Val77Gly)
NM_002890.3(RASA1):c.2311T>C (p.Cys771Arg)
NM_002890.3(RASA1):c.2316A>C (p.Thr772=)
NM_002890.3(RASA1):c.2325_2326del (p.Asp775fs)
NM_002890.3(RASA1):c.2329_2330del (p.Glu777fs) rs2112492304
NM_002890.3(RASA1):c.2344+14A>G
NM_002890.3(RASA1):c.2344+17T>C
NM_002890.3(RASA1):c.2344+20G>C
NM_002890.3(RASA1):c.2344+9T>C
NM_002890.3(RASA1):c.2345-17T>C
NM_002890.3(RASA1):c.2345-18A>C
NM_002890.3(RASA1):c.2345-4G>A
NM_002890.3(RASA1):c.2345-5T>C rs1761467081
NM_002890.3(RASA1):c.2345-6G>A rs1423456816
NM_002890.3(RASA1):c.2345-9T>C rs1580390526
NM_002890.3(RASA1):c.234A>T (p.Ala78=)
NM_002890.3(RASA1):c.2353A>C (p.Thr785Pro) rs2112495513
NM_002890.3(RASA1):c.2357C>T (p.Thr786Ile)
NM_002890.3(RASA1):c.2358C>G (p.Thr786=)
NM_002890.3(RASA1):c.2361A>G (p.Leu787=)
NM_002890.3(RASA1):c.2366G>A (p.Arg789Gln) rs1761468673
NM_002890.3(RASA1):c.2377C>T (p.Leu793Phe) rs2112495564
NM_002890.3(RASA1):c.2380G>C (p.Ala794Pro) rs1360937887
NM_002890.3(RASA1):c.2387C>A (p.Thr796Asn)
NM_002890.3(RASA1):c.2388del (p.Thr796_Leu797insTer)
NM_002890.3(RASA1):c.2390del (p.Thr796_Leu797insTer) rs2112495582
NM_002890.3(RASA1):c.239C>T (p.Ala80Val) rs764720303
NM_002890.3(RASA1):c.23G>C (p.Ser8Thr)
NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter) rs1761469547
NM_002890.3(RASA1):c.2403T>C (p.Tyr801=)
NM_002890.3(RASA1):c.240A>G (p.Ala80=)
NM_002890.3(RASA1):c.2410G>A (p.Ala804Thr) rs2112495606
NM_002890.3(RASA1):c.241C>G (p.Leu81Val) rs773960170
NM_002890.3(RASA1):c.2422C>G (p.Gln808Glu)
NM_002890.3(RASA1):c.2422_2423del (p.Gln808fs) rs2112495617
NM_002890.3(RASA1):c.2425T>C (p.Phe809Leu)
NM_002890.3(RASA1):c.2446G>T (p.Asp816Tyr) rs1285858795
NM_002890.3(RASA1):c.2447A>G (p.Asp816Gly)
NM_002890.3(RASA1):c.2448C>A (p.Asp816Glu) rs1218464679
NM_002890.3(RASA1):c.2449T>C (p.Ser817Pro) rs1252322867
NM_002890.3(RASA1):c.2449T>G (p.Ser817Ala) rs1252322867
NM_002890.3(RASA1):c.244G>A (p.Gly82Arg) rs767017718
NM_002890.3(RASA1):c.244G>C (p.Gly82Arg)
NM_002890.3(RASA1):c.244G>T (p.Gly82Trp) rs767017718
NM_002890.3(RASA1):c.2451dup (p.Ile818fs) rs1761473113
NM_002890.3(RASA1):c.2461A>G (p.Ile821Val) rs1554049698
NM_002890.3(RASA1):c.2462T>C (p.Ile821Thr)
NM_002890.3(RASA1):c.246G>A (p.Gly82=)
NM_002890.3(RASA1):c.2487+2T>G rs2112495772
NM_002890.3(RASA1):c.2488-19_2488-16del
NM_002890.3(RASA1):c.2488-1G>A
NM_002890.3(RASA1):c.2488-22_2488-16del
NM_002890.3(RASA1):c.2488-3del
NM_002890.3(RASA1):c.2488-7_2488-4del
NM_002890.3(RASA1):c.2488-7_2488-5del
NM_002890.3(RASA1):c.248G>T (p.Gly83Val) rs755788420
NM_002890.3(RASA1):c.2491A>C (p.Ser831Arg)
NM_002890.3(RASA1):c.2500_2501del (p.Lys834fs)
NM_002890.3(RASA1):c.2504T>C (p.Leu835Ser) rs1445029428
NM_002890.3(RASA1):c.2505A>G (p.Leu835=)
NM_002890.3(RASA1):c.250G>A (p.Ala84Thr)
NM_002890.3(RASA1):c.250G>C (p.Ala84Pro)
NM_002890.3(RASA1):c.251C>T (p.Ala84Val)
NM_002890.3(RASA1):c.2520T>C (p.Asp840=)
NM_002890.3(RASA1):c.2527A>G (p.Thr843Ala)
NM_002890.3(RASA1):c.2529dup (p.Asn844Ter) rs878854569
NM_002890.3(RASA1):c.2532T>C (p.Asn844=)
NM_002890.3(RASA1):c.2534_2535insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT (p.Leu845delinsPhePhePhePhePhePhePheXaaXaaXaaXaaPheTer)
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg) rs754858818
NM_002890.3(RASA1):c.2541C>T (p.His847=)
NM_002890.3(RASA1):c.2544A>G (p.Leu848=)
NM_002890.3(RASA1):c.2546T>C (p.Leu849Ser)
NM_002890.3(RASA1):c.2552T>C (p.Ile851Thr)
NM_002890.3(RASA1):c.2557dup (p.Ser853fs) rs1554049825
NM_002890.3(RASA1):c.2568G>A (p.Val856=)
NM_002890.3(RASA1):c.2582T>C (p.Met861Thr) rs1761583366
NM_002890.3(RASA1):c.2594T>C (p.Ile865Thr)
NM_002890.3(RASA1):c.2603+1G>A rs983011713
NM_002890.3(RASA1):c.2603+2dup rs1580394003
NM_002890.3(RASA1):c.2603+4A>T
NM_002890.3(RASA1):c.2603+9T>A
NM_002890.3(RASA1):c.2604-15G>A
NM_002890.3(RASA1):c.2604-15G>T
NM_002890.3(RASA1):c.2616T>C (p.Tyr872=)
NM_002890.3(RASA1):c.261A>G (p.Thr87=) rs775947669
NM_002890.3(RASA1):c.2620dup (p.Tyr874fs)
NM_002890.3(RASA1):c.2625del (p.Cys876fs)
NM_002890.3(RASA1):c.262G>A (p.Gly88Arg) rs369735817
NM_002890.3(RASA1):c.262G>C (p.Gly88Arg)
NM_002890.3(RASA1):c.2639C>G (p.Ser880Cys)
NM_002890.3(RASA1):c.263G>C (p.Gly88Ala)
NM_002890.3(RASA1):c.2648_2655del (p.His883fs) rs2112500780
NM_002890.3(RASA1):c.2656C>T (p.Pro886Ser) rs1359038183
NM_002890.3(RASA1):c.2659A>G (p.Thr887Ala)
NM_002890.3(RASA1):c.2662A>G (p.Asn888Asp)
NM_002890.3(RASA1):c.267A>T (p.Gly89=)
NM_002890.3(RASA1):c.2680A>G (p.Arg894Gly) rs2112500864
NM_002890.3(RASA1):c.2681G>A (p.Arg894Lys)
NM_002890.3(RASA1):c.2690+10A>T
NM_002890.3(RASA1):c.2690+11_2690+13del
NM_002890.3(RASA1):c.2690+12C>A
NM_002890.3(RASA1):c.2690+14A>G
NM_002890.3(RASA1):c.2690+15T>C
NM_002890.3(RASA1):c.2690+20T>G
NM_002890.3(RASA1):c.2690+4A>G rs2112500896
NM_002890.3(RASA1):c.2691-16T>A
NM_002890.3(RASA1):c.2691-18A>T rs1342566616
NM_002890.3(RASA1):c.2691-1G>C
NM_002890.3(RASA1):c.2691-4T>C rs201365157
NM_002890.3(RASA1):c.2691-6A>G rs745758645
NM_002890.3(RASA1):c.2697T>C (p.Phe899=)
NM_002890.3(RASA1):c.2698_2701del (p.Val900fs) rs886041232
NM_002890.3(RASA1):c.2700T>C (p.Val900=) rs2112509018
NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter) rs1554050230
NM_002890.3(RASA1):c.2708G>A (p.Arg903Gln) rs2112509032
NM_002890.3(RASA1):c.2712C>T (p.Leu904=)
NM_002890.3(RASA1):c.2715C>T (p.Ile905=)
NM_002890.3(RASA1):c.271A>C (p.Thr91Pro)
NM_002890.3(RASA1):c.2723C>G (p.Ala908Gly) rs1761886517
NM_002890.3(RASA1):c.2724C>T (p.Ala908=) rs576034504
NM_002890.3(RASA1):c.2724del (p.Ile909fs)
NM_002890.3(RASA1):c.272C>T (p.Thr91Ile)
NM_002890.3(RASA1):c.2730G>A (p.Leu910=)
NM_002890.3(RASA1):c.2733T>A (p.Asn911Lys) rs766721039
NM_002890.3(RASA1):c.2739G>C (p.Arg913=) rs375135791
NM_002890.3(RASA1):c.2739G>T (p.Arg913=) rs375135791
NM_002890.3(RASA1):c.2742G>A (p.Met914Ile)
NM_002890.3(RASA1):c.2752A>G (p.Ile918Val)
NM_002890.3(RASA1):c.2758+15A>G
NM_002890.3(RASA1):c.2758+20T>C
NM_002890.3(RASA1):c.2758+8G>C
NM_002890.3(RASA1):c.2759-11T>A
NM_002890.3(RASA1):c.2759-12A>G
NM_002890.3(RASA1):c.2759-15C>G rs771148834
NM_002890.3(RASA1):c.2759-16C>T
NM_002890.3(RASA1):c.2759-19G>A
NM_002890.3(RASA1):c.2759-20T>A
NM_002890.3(RASA1):c.2759-3_2759-2del
NM_002890.3(RASA1):c.2759-5T>G
NM_002890.3(RASA1):c.2759-7G>A
NM_002890.3(RASA1):c.2759-7G>T
NM_002890.3(RASA1):c.2766A>G (p.Pro922=)
NM_002890.3(RASA1):c.2795T>C (p.Leu932Ser) rs1554050426
NM_002890.3(RASA1):c.2795dup (p.Leu932fs)
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp) rs1205377315
NM_002890.3(RASA1):c.2808T>G (p.Ser936=)
NM_002890.3(RASA1):c.2810_2811del (p.Val937fs) rs1761994695
NM_002890.3(RASA1):c.2814G>A (p.Gln938=)
NM_002890.3(RASA1):c.2828T>C (p.Leu943Pro)
NM_002890.3(RASA1):c.2847+1G>A rs1060503438
NM_002890.3(RASA1):c.2848-10T>C
NM_002890.3(RASA1):c.2848-17A>G
NM_002890.3(RASA1):c.2848-18A>C
NM_002890.3(RASA1):c.2856C>T (p.Tyr952=)
NM_002890.3(RASA1):c.2858T>C (p.Met953Thr)
NM_002890.3(RASA1):c.285A>G (p.Val95=)
NM_002890.3(RASA1):c.285_305del (p.93AGVAGAA[1]) rs745572583
NM_002890.3(RASA1):c.2866_2867del (p.Val956fs) rs1561331089
NM_002890.3(RASA1):c.2872C>G (p.Pro958Ala)
NM_002890.3(RASA1):c.2872C>T (p.Pro958Ser)
NM_002890.3(RASA1):c.2873C>T (p.Pro958Leu)
NM_002890.3(RASA1):c.2873del (p.Pro958fs) rs1554050584
NM_002890.3(RASA1):c.288T>C (p.Ala96=)
NM_002890.3(RASA1):c.288_308del (p.93AGVAGAA[1])
NM_002890.3(RASA1):c.2891_2894del (p.Lys964fs) rs2112517213
NM_002890.3(RASA1):c.2904C>G (p.Ile968Met)
NM_002890.3(RASA1):c.2906T>G (p.Met969Arg)
NM_002890.3(RASA1):c.2907G>A (p.Met969Ile)
NM_002890.3(RASA1):c.2909_2913dup (p.Asp972delinsPheTer) rs878854570
NM_002890.3(RASA1):c.291T>C (p.Gly97=) rs1201250470
NM_002890.3(RASA1):c.2920del (p.Asn976fs) rs2112517308
NM_002890.3(RASA1):c.2925+10T>G
NM_002890.3(RASA1):c.2925+6TA[2]
NM_002890.3(RASA1):c.2925+8T>C
NM_002890.3(RASA1):c.2925+9A>T rs1554050607
NM_002890.3(RASA1):c.2925G>A (p.Gly975=)
NM_002890.3(RASA1):c.2926-13G>A
NM_002890.3(RASA1):c.2926-14C>G
NM_002890.3(RASA1):c.2926-2_2927del
NM_002890.3(RASA1):c.2926-2_2927dup
NM_002890.3(RASA1):c.2926-2dup rs760483907
NM_002890.3(RASA1):c.2926-4A>G
NM_002890.3(RASA1):c.293C>G (p.Ala98Gly)
NM_002890.3(RASA1):c.2942del (p.Pro981fs)
NM_002890.3(RASA1):c.2943G>A (p.Pro981=) rs761753589
NM_002890.3(RASA1):c.2943G>T (p.Pro981=)
NM_002890.3(RASA1):c.2952A>G (p.Thr984=)
NM_002890.3(RASA1):c.2957A>T (p.His986Leu)
NM_002890.3(RASA1):c.2964A>G (p.Arg988=)
NM_002890.3(RASA1):c.2966C>T (p.Thr989Met)
NM_002890.3(RASA1):c.2968del (p.Asp990fs)
NM_002890.3(RASA1):c.2977C>T (p.Arg993Cys)
NM_002890.3(RASA1):c.2978G>A (p.Arg993His)
NM_002890.3(RASA1):c.2985A>G (p.Leu995=)
NM_002890.3(RASA1):c.2985A>T (p.Leu995Phe)
NM_002890.3(RASA1):c.2992T>C (p.Leu998=)
NM_002890.3(RASA1):c.2993T>G (p.Leu998Trp)
NM_002890.3(RASA1):c.2997T>A (p.His999Gln) rs2112525098
NM_002890.3(RASA1):c.299C>T (p.Ala100Val)
NM_002890.3(RASA1):c.299_319del (p.93AGVAGAA[1])
NM_002890.3(RASA1):c.299_319dup (p.93AGVAGAA[3]) rs771844907
NM_002890.3(RASA1):c.299_325del (p.Ala100_Ala108del)
NM_002890.3(RASA1):c.29A>T (p.Glu10Val)
NM_002890.3(RASA1):c.3002T>C (p.Ile1001Thr)
NM_002890.3(RASA1):c.3002T>G (p.Ile1001Ser)
NM_002890.3(RASA1):c.3003T>C (p.Ile1001=)
NM_002890.3(RASA1):c.3007G>A (p.Val1003Met)
NM_002890.3(RASA1):c.3007G>C (p.Val1003Leu) rs758894954
NM_002890.3(RASA1):c.3009G>C (p.Val1003=) rs778423443
NM_002890.3(RASA1):c.300T>C (p.Ala100=)
NM_002890.3(RASA1):c.3011C>T (p.Ala1004Val) rs2112525174
NM_002890.3(RASA1):c.3020_3021insATGA (p.Asp1007delinsGluTer)
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter) rs1762317272
NM_002890.3(RASA1):c.302G>A (p.Gly101Asp) rs2112222782
NM_002890.3(RASA1):c.302_322del (p.Gly101_Val107del) rs1258942509
NM_002890.3(RASA1):c.303_326del (p.Val102_Gly109del) rs768241743
NM_002890.3(RASA1):c.3042T>C (p.Asn1014=)
NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter) rs1561333645
NM_002890.3(RASA1):c.3046C>T (p.Arg1016Cys)
NM_002890.3(RASA1):c.3050del (p.Gly1017fs) rs2112525375
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.3060+10C>G rs768479962
NM_002890.3(RASA1):c.3060+10C>T rs768479962
NM_002890.3(RASA1):c.3060+18_3060+20del
NM_002890.3(RASA1):c.3060+1G>A
NM_002890.3(RASA1):c.3060+1G>T rs1580418269
NM_002890.3(RASA1):c.3060+9dup rs574384512
NM_002890.3(RASA1):c.3061-17A>G
NM_002890.3(RASA1):c.3061-18C>G rs2112530335
NM_002890.3(RASA1):c.3063C>T (p.His1021=)
NM_002890.3(RASA1):c.3066A>G (p.Val1022=)
NM_002890.3(RASA1):c.307G>A (p.Ala103Thr)
NM_002890.3(RASA1):c.3090A>C (p.Thr1030=) rs2112530510
NM_002890.3(RASA1):c.3090_3140dup (p.Arg1047_Ter1048insGluLeuLeuGlnGlnLysGlnAsnGlnTyrThrLysThrAsnAspValArg) rs2112530518
NM_002890.3(RASA1):c.3091del (p.Glu1031fs)
NM_002890.3(RASA1):c.3102ACAAAA[1] (p.Lys1036_Gln1037del) rs2112530531
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs) rs1554051094
NM_002890.3(RASA1):c.310G>A (p.Gly104Ser) rs2112222798
NM_002890.3(RASA1):c.311G>T (p.Gly104Val)
NM_002890.3(RASA1):c.3131A>G (p.Asn1044Ser)
NM_002890.3(RASA1):c.3135T>C (p.Asp1045=) rs1166197926
NM_002890.3(RASA1):c.3141_*50dup (p.Arg1047_Ter1048=)
NM_002890.3(RASA1):c.315T>G (p.Ala105=)
NM_002890.3(RASA1):c.31G>A (p.Gly11Ser)
NM_002890.3(RASA1):c.331A>G (p.Ser111Gly)
NM_002890.3(RASA1):c.334G>A (p.Gly112Arg) rs2112222851
NM_002890.3(RASA1):c.335G>C (p.Gly112Ala)
NM_002890.3(RASA1):c.336A>C (p.Gly112=)
NM_002890.3(RASA1):c.339C>A (p.Asp113Glu)
NM_002890.3(RASA1):c.341T>C (p.Met114Thr)
NM_002890.3(RASA1):c.344C>G (p.Ala115Gly) rs576329276
NM_002890.3(RASA1):c.34G>A (p.Gly12Ser) rs1753664187
NM_002890.3(RASA1):c.34G>T (p.Gly12Cys) rs1753664187
NM_002890.3(RASA1):c.352A>G (p.Lys118Glu) rs1580179229
NM_002890.3(RASA1):c.358C>T (p.Pro120Ser) rs1266753350
NM_002890.3(RASA1):c.359C>G (p.Pro120Arg)
NM_002890.3(RASA1):c.360C>G (p.Pro120=) rs137878395
NM_002890.3(RASA1):c.363T>C (p.Thr121=)
NM_002890.3(RASA1):c.365C>A (p.Ser122Ter) rs1187087405
NM_002890.3(RASA1):c.365C>T (p.Ser122Leu)
NM_002890.3(RASA1):c.366G>A (p.Ser122=)
NM_002890.3(RASA1):c.36C>T (p.Gly12=)
NM_002890.3(RASA1):c.374C>G (p.Ala125Gly)
NM_002890.3(RASA1):c.375T>G (p.Ala125=)
NM_002890.3(RASA1):c.382C>T (p.Leu128Phe)
NM_002890.3(RASA1):c.383_384del (p.Leu128fs)
NM_002890.3(RASA1):c.38C>G (p.Pro13Arg)
NM_002890.3(RASA1):c.395_396delinsTT (p.Gly132Val) rs1554038863
NM_002890.3(RASA1):c.399T>A (p.Gly133=)
NM_002890.3(RASA1):c.402del (p.Pro136fs)
NM_002890.3(RASA1):c.403C>A (p.Pro135Thr)
NM_002890.3(RASA1):c.404C>T (p.Pro135Leu)
NM_002890.3(RASA1):c.407C>G (p.Pro136Arg) rs769463654
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) rs769463654
NM_002890.3(RASA1):c.414C>T (p.Pro138=)
NM_002890.3(RASA1):c.415C>G (p.Pro139Ala)
NM_002890.3(RASA1):c.417T>G (p.Pro139=) rs1753693500
NM_002890.3(RASA1):c.418C>A (p.Pro140Thr) rs751440049
NM_002890.3(RASA1):c.420C>G (p.Pro140=)
NM_002890.3(RASA1):c.426C>G (p.Tyr142Ter)
NM_002890.3(RASA1):c.429G>A (p.Leu143=) rs1753694457
NM_002890.3(RASA1):c.42A>T (p.Val14=)
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu) rs1753694671
NM_002890.3(RASA1):c.432C>A (p.Pro144=)
NM_002890.3(RASA1):c.432C>G (p.Pro144=) rs1229617577
NM_002890.3(RASA1):c.432C>T (p.Pro144=)
NM_002890.3(RASA1):c.433C>T (p.Pro145Ser)
NM_002890.3(RASA1):c.434_451delinsA (p.Pro145fs)
NM_002890.3(RASA1):c.435T>A (p.Pro145=)
NM_002890.3(RASA1):c.43A>G (p.Thr15Ala)
NM_002890.3(RASA1):c.442dup (p.Ala148fs) rs751951068
NM_002890.3(RASA1):c.443C>T (p.Ala148Val)
NM_002890.3(RASA1):c.453G>A (p.Gly151=)
NM_002890.3(RASA1):c.453G>C (p.Gly151=)
NM_002890.3(RASA1):c.454A>G (p.Thr152Ala) rs1753696601
NM_002890.3(RASA1):c.469G>A (p.Asp157Asn)
NM_002890.3(RASA1):c.474dup (p.Leu159fs)
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_002890.3(RASA1):c.484C>G (p.Pro162Ala)
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter) rs1753698267
NM_002890.3(RASA1):c.496G>T (p.Glu166Ter)
NM_002890.3(RASA1):c.50G>T (p.Gly17Val)
NM_002890.3(RASA1):c.515C>T (p.Pro172Leu) rs776808856
NM_002890.3(RASA1):c.516G>A (p.Pro172=)
NM_002890.3(RASA1):c.516G>T (p.Pro172=) rs2112223315
NM_002890.3(RASA1):c.522C>T (p.Thr174=) rs139686009
NM_002890.3(RASA1):c.529C>T (p.Pro177Ser)
NM_002890.3(RASA1):c.532A>G (p.Thr178Ala)
NM_002890.3(RASA1):c.532A>T (p.Thr178Ser) rs150804394
NM_002890.3(RASA1):c.538del (p.Gln180fs) rs2112223340
NM_002890.3(RASA1):c.539+12C>G
NM_002890.3(RASA1):c.539+1G>C rs2112223349
NM_002890.3(RASA1):c.539+20C>T
NM_002890.3(RASA1):c.539+2T>G
NM_002890.3(RASA1):c.539+3A>G rs1561245221
NM_002890.3(RASA1):c.539+4A>G
NM_002890.3(RASA1):c.539+4dup
NM_002890.3(RASA1):c.539+6T>G
NM_002890.3(RASA1):c.540-15_540-14del
NM_002890.3(RASA1):c.540-2A>C rs2112365844
NM_002890.3(RASA1):c.540-4C>G
NM_002890.3(RASA1):c.549C>A (p.His183Gln)
NM_002890.3(RASA1):c.549C>T (p.His183=)
NM_002890.3(RASA1):c.558T>C (p.Leu186=)
NM_002890.3(RASA1):c.577G>A (p.Glu193Lys)
NM_002890.3(RASA1):c.578_581dup (p.Leu195fs) rs1757588488
NM_002890.3(RASA1):c.583del (p.Leu195fs)
NM_002890.3(RASA1):c.587G>A (p.Arg196Lys)
NM_002890.3(RASA1):c.587G>C (p.Arg196Thr)
NM_002890.3(RASA1):c.599A>T (p.Lys200Met)
NM_002890.3(RASA1):c.600G>A (p.Lys200=)
NM_002890.3(RASA1):c.606C>G (p.Gly202=) rs1187621828
NM_002890.3(RASA1):c.606C>T (p.Gly202=)
NM_002890.3(RASA1):c.607A>C (p.Ser203Arg)
NM_002890.3(RASA1):c.608G>A (p.Ser203Asn)
NM_002890.3(RASA1):c.611dup (p.Tyr204Ter)
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.617_621del (p.Ile206fs) rs2112366112
NM_002890.3(RASA1):c.628G>A (p.Asp210Asn)
NM_002890.3(RASA1):c.637C>T (p.Pro213Ser) rs2112366190
NM_002890.3(RASA1):c.644C>T (p.Ser215Phe)
NM_002890.3(RASA1):c.651A>G (p.Val217=)
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823
NM_002890.3(RASA1):c.656C>T (p.Ser219Leu) rs1554044823
NM_002890.3(RASA1):c.669G>A (p.Gln223=)
NM_002890.3(RASA1):c.672G>A (p.Met224Ile)
NM_002890.3(RASA1):c.675T>C (p.Asn225=)
NM_002890.3(RASA1):c.679G>T (p.Val227Phe)
NM_002890.3(RASA1):c.67G>C (p.Ala23Pro)
NM_002890.3(RASA1):c.680T>C (p.Val227Ala)
NM_002890.3(RASA1):c.684C>T (p.Asn228=) rs1286975622
NM_002890.3(RASA1):c.690T>C (p.Phe230=)
NM_002890.3(RASA1):c.692+10del rs745660568
NM_002890.3(RASA1):c.692+6T>G
NM_002890.3(RASA1):c.692+8T>C
NM_002890.3(RASA1):c.693-14dup rs776195697
NM_002890.3(RASA1):c.693-20A>G
NM_002890.3(RASA1):c.693-5A>G rs1757676959
NM_002890.3(RASA1):c.693-6_711del rs1757676761
NM_002890.3(RASA1):c.694A>G (p.Ile232Val)
NM_002890.3(RASA1):c.711A>C (p.Gly237=)
NM_002890.3(RASA1):c.735T>G (p.Arg245=)
NM_002890.3(RASA1):c.753C>G (p.Asp251Glu)
NM_002890.3(RASA1):c.754C>T (p.Leu252=)
NM_002890.3(RASA1):c.75G>A (p.Ala25=) rs529924262
NM_002890.3(RASA1):c.75G>C (p.Ala25=) rs529924262
NM_002890.3(RASA1):c.774T>C (p.His258=)
NM_002890.3(RASA1):c.78del (p.Ser27fs)
NM_002890.3(RASA1):c.805C>G (p.Leu269Val)
NM_002890.3(RASA1):c.806_810del (p.Leu269fs)
NM_002890.3(RASA1):c.80C>T (p.Ser27Phe)
NM_002890.3(RASA1):c.825A>G (p.Pro275=)
NM_002890.3(RASA1):c.828+12G>A
NM_002890.3(RASA1):c.828+1G>A rs2112369549
NM_002890.3(RASA1):c.828+1G>T
NM_002890.3(RASA1):c.828+5G>T rs2112369561
NM_002890.3(RASA1):c.828+9A>T
NM_002890.3(RASA1):c.829-11dup rs2112371484
NM_002890.3(RASA1):c.829-8G>A rs1312152887
NM_002890.3(RASA1):c.82A>G (p.Ser28Gly)
NM_002890.3(RASA1):c.839A>G (p.Asp280Gly)
NM_002890.3(RASA1):c.841A>T (p.Arg281Ter)
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) rs137853218
NM_002890.3(RASA1):c.85G>A (p.Ala29Thr) rs777487947
NM_002890.3(RASA1):c.85G>T (p.Ala29Ser)
NM_002890.3(RASA1):c.874A>G (p.Lys292Glu)
NM_002890.3(RASA1):c.87C>T (p.Ala29=)
NM_002890.3(RASA1):c.88T>A (p.Tyr30Asn)
NM_002890.3(RASA1):c.899+12T>C
NM_002890.3(RASA1):c.899+8A>G rs781285667
NM_002890.3(RASA1):c.899_899+3del
NM_002890.3(RASA1):c.900-13T>C
NM_002890.3(RASA1):c.900-14A>G
NM_002890.3(RASA1):c.900-8A>G
NM_002890.3(RASA1):c.902dup (p.Gly304fs)
NM_002890.3(RASA1):c.914A>G (p.Asp305Gly) rs2112386523
NM_002890.3(RASA1):c.91C>A (p.Pro31Thr)
NM_002890.3(RASA1):c.91C>T (p.Pro31Ser)
NM_002890.3(RASA1):c.924T>C (p.Ile308=)
NM_002890.3(RASA1):c.92C>G (p.Pro31Arg) rs1484820367
NM_002890.3(RASA1):c.92C>T (p.Pro31Leu)
NM_002890.3(RASA1):c.948A>G (p.Gly316=) rs2112386598
NM_002890.3(RASA1):c.957G>A (p.Trp319Ter)
NM_002890.3(RASA1):c.967T>C (p.Leu323=)
NM_002890.3(RASA1):c.98T>C (p.Val33Ala) rs2112222218
NM_016204.4(GDF2):c.1005C>T (p.Asn335=) rs2061102920
NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys) rs1555209063
NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys) rs1200646207
NM_016204.4(GDF2):c.1084T>C (p.Phe362Leu)
NM_016204.4(GDF2):c.108C>T (p.Asn36=)
NM_016204.4(GDF2):c.1095T>C (p.Ala365=)
NM_016204.4(GDF2):c.10G>A (p.Gly4Arg) rs2061088172
NM_016204.4(GDF2):c.1101T>C (p.Asp367=) rs1415249127
NM_016204.4(GDF2):c.1119C>T (p.His373=)
NM_016204.4(GDF2):c.1125C>T (p.Ile375=)
NM_016204.4(GDF2):c.1135del (p.Leu379fs) rs1259967380
NM_016204.4(GDF2):c.1139T>C (p.Val380Ala) rs567200323
NM_016204.4(GDF2):c.1152C>T (p.Phe384=)
NM_016204.4(GDF2):c.1162G>A (p.Val388Met) rs2132236835
NM_016204.4(GDF2):c.1172C>T (p.Ala391Val)
NM_016204.4(GDF2):c.1185_1191delinsTG (p.Thr396fs)
NM_016204.4(GDF2):c.1190A>G (p.Lys397Arg) rs536912270
NM_016204.4(GDF2):c.120A>C (p.Pro40=) rs781963055
NM_016204.4(GDF2):c.121C>G (p.Leu41Val)
NM_016204.4(GDF2):c.1233G>A (p.Val411=)
NM_016204.4(GDF2):c.1243A>T (p.Lys415Ter) rs2132236938
NM_016204.4(GDF2):c.124G>T (p.Gly42Trp)
NM_016204.4(GDF2):c.1267G>A (p.Val423Met) rs1358534877
NM_016204.4(GDF2):c.126G>A (p.Gly42=) rs1023303066
NM_016204.4(GDF2):c.134G>A (p.Gly45Glu)
NM_016204.4(GDF2):c.159C>T (p.Phe53=) rs2132234200
NM_016204.4(GDF2):c.18G>A (p.Leu6=) rs1555208681
NM_016204.4(GDF2):c.198C>T (p.Phe66=) rs2061089520
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) rs200330818
NM_016204.4(GDF2):c.258G>A (p.Pro86=)
NM_016204.4(GDF2):c.283A>C (p.Arg95=) rs2061090101
NM_016204.4(GDF2):c.290C>G (p.Thr97Arg)
NM_016204.4(GDF2):c.291G>A (p.Thr97=)
NM_016204.4(GDF2):c.294C>T (p.Ser98=)
NM_016204.4(GDF2):c.303G>C (p.Ser101=)
NM_016204.4(GDF2):c.309G>A (p.Thr103=)
NM_016204.4(GDF2):c.311C>T (p.Pro104Leu)
NM_016204.4(GDF2):c.314C>T (p.Ala105Val) rs781829279
NM_016204.4(GDF2):c.346+11C>T
NM_016204.4(GDF2):c.346+12G>T
NM_016204.4(GDF2):c.346+17C>A
NM_016204.4(GDF2):c.346+18A>G
NM_016204.4(GDF2):c.347-17G>A
NM_016204.4(GDF2):c.347-18C>T
NM_016204.4(GDF2):c.347-5T>G
NM_016204.4(GDF2):c.34C>G (p.Leu12Val)
NM_016204.4(GDF2):c.36G>A (p.Leu12=)
NM_016204.4(GDF2):c.381C>G (p.Pro127=)
NM_016204.4(GDF2):c.40_48dup (p.Ser14_Leu16dup) rs781911497
NM_016204.4(GDF2):c.419C>T (p.Pro140Leu) rs2061098704
NM_016204.4(GDF2):c.41C>T (p.Ser14Phe)
NM_016204.4(GDF2):c.451C>T (p.Arg151Ter)
NM_016204.4(GDF2):c.455T>A (p.Leu152His) rs2061098935
NM_016204.4(GDF2):c.464C>T (p.Ser155Phe)
NM_016204.4(GDF2):c.486C>G (p.Pro162=)
NM_016204.4(GDF2):c.489T>G (p.Ser163=)
NM_016204.4(GDF2):c.492T>C (p.His164=)
NM_016204.4(GDF2):c.507C>T (p.Ser169=) rs373090748
NM_016204.4(GDF2):c.508G>A (p.Val170Met)
NM_016204.4(GDF2):c.513C>A (p.Val171=)
NM_016204.4(GDF2):c.521A>T (p.Asp174Val)
NM_016204.4(GDF2):c.573C>T (p.Phe191=)
NM_016204.4(GDF2):c.603C>A (p.Gly201=)
NM_016204.4(GDF2):c.630C>T (p.Ala210=)
NM_016204.4(GDF2):c.631G>A (p.Val211Met)
NM_016204.4(GDF2):c.639C>T (p.Arg213=)
NM_016204.4(GDF2):c.641G>A (p.Trp214Ter)
NM_016204.4(GDF2):c.651C>T (p.Ser217=)
NM_016204.4(GDF2):c.69G>A (p.Lys23=) rs549031631
NM_016204.4(GDF2):c.705_706delinsAA (p.Gly236Ser) rs1555208939
NM_016204.4(GDF2):c.738A>G (p.Pro246=) rs2132236287
NM_016204.4(GDF2):c.740G>C (p.Gly247Ala) rs369219783
NM_016204.4(GDF2):c.740G>T (p.Gly247Val) rs369219783
NM_016204.4(GDF2):c.750C>T (p.Asn250=) rs782092613
NM_016204.4(GDF2):c.768C>T (p.Val256=)
NM_016204.4(GDF2):c.808C>T (p.Leu270=)
NM_016204.4(GDF2):c.846C>T (p.Ser282=)
NM_016204.4(GDF2):c.857dup (p.Leu287fs)
NM_016204.4(GDF2):c.859C>T (p.Leu287=)
NM_016204.4(GDF2):c.864C>T (p.Ser288=)
NM_016204.4(GDF2):c.879A>G (p.Thr293=)
NM_016204.4(GDF2):c.882G>A (p.Glu294=)
NM_016204.4(GDF2):c.89G>A (p.Arg30Gln) rs368827442
NM_016204.4(GDF2):c.89G>C (p.Arg30Pro) rs368827442
NM_016204.4(GDF2):c.900C>T (p.His300=) rs534175902
NM_016204.4(GDF2):c.906G>A (p.Glu302=)
NM_016204.4(GDF2):c.912G>A (p.Thr304=)
NM_016204.4(GDF2):c.921C>T (p.His307=)
NM_016204.4(GDF2):c.950G>A (p.Arg317Gln)
NM_016204.4(GDF2):c.961G>A (p.Ala321Thr)
NM_016204.4(GDF2):c.963C>A (p.Ala321=) rs370309301
NM_016204.4(GDF2):c.967G>A (p.Ala323Thr)
NM_016204.4(GDF2):c.97G>A (p.Ala33Thr)
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734

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