ClinVar Miner

List of variants reported as uncertain significance for capillary malformation

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1152
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_002890.3(RASA1):c.*476T>G rs543819845 0.00183
NM_000020.3(ACVRL1):c.*242A>G rs147728309 0.00109
NM_001114753.3(ENG):c.1852+52G>C rs371104611 0.00083
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_000020.3(ACVRL1):c.*2277A>T rs529631289 0.00069
NM_000020.3(ACVRL1):c.*1493G>A rs565400159 0.00061
NM_000020.3(ACVRL1):c.*1689G>A rs139351455 0.00046
NM_000020.3(ACVRL1):c.*2347A>C rs573540605 0.00046
NM_000020.3(ACVRL1):c.*590G>T rs750985560 0.00046
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
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_001114753.3(ENG):c.-9G>A rs368423516 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.219+23G>A rs200726108 0.00037
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_000020.3(ACVRL1):c.-129G>A rs886049607 0.00032
NM_001114753.3(ENG):c.1258A>G (p.Met420Val) rs143724056 0.00029
NM_001114753.3(ENG):c.-63C>T rs886063476 0.00028
NM_000020.3(ACVRL1):c.*1662A>T rs886049618 0.00026
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_004444.5(EPHB4):c.1067C>G (p.Thr356Ser) rs192640017 0.00021
NM_001114753.3(ENG):c.-246T>C rs886063478 0.00020
NM_001114753.3(ENG):c.-188G>A rs961480381 0.00017
NM_000020.3(ACVRL1):c.-194A>C rs886049606 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_000020.3(ACVRL1):c.*120G>A rs539571133 0.00014
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) rs200372420 0.00014
NM_002890.3(RASA1):c.*748A>T rs757684576 0.00014
NM_002890.3(RASA1):c.2470A>T (p.Ser824Cys) rs151119180 0.00014
NM_016204.4(GDF2):c.712G>A (p.Asp238Asn) rs137873272 0.00014
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00013
NM_001114753.3(ENG):c.-227C>G rs955866378 0.00013
NM_000020.3(ACVRL1):c.*132G>A rs867355962 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_001114753.3(ENG):c.1135-8C>T rs79426098 0.00011
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val) rs113316011 0.00011
NM_001114753.3(ENG):c.*266G>A rs764451017 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_005359.6(SMAD4):c.*5576C>G rs886053930 0.00010
NM_000020.3(ACVRL1):c.*1676T>C rs747662494 0.00009
NM_000020.3(ACVRL1):c.*1777G>A rs546585572 0.00009
NM_000020.3(ACVRL1):c.*1839C>T rs755262319 0.00009
NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe) rs141653630 0.00009
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098 0.00009
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val) rs143054595 0.00009
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106 0.00009
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736 0.00009
NM_001114753.3(ENG):c.*273A>C rs138178682 0.00008
NM_001114753.3(ENG):c.1098C>T (p.Asp366=) rs201497772 0.00008
NM_001114753.3(ENG):c.1852+21C>G rs147188969 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.1207G>A (p.Val403Ile) rs367957332 0.00008
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys) rs199675436 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_000020.3(ACVRL1):c.1360C>T (p.Arg454Trp) rs373133784 0.00006
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met) rs369146413 0.00006
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile) rs138048445 0.00006
NM_001114753.3(ENG):c.-76C>T rs943786398 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.*298T>C rs886060846 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_001114753.3(ENG):c.-126G>A rs940261789 0.00005
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266 0.00005
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721 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_000020.3(ACVRL1):c.5C>T (p.Thr2Ile) rs373062714 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.1389C>T (p.Ala463=) rs200168633 0.00004
NM_001114753.3(ENG):c.1853-9C>T rs368472273 0.00004
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658 0.00004
NM_001114753.3(ENG):c.9C>T (p.Arg3=) rs752431673 0.00004
NM_002890.3(RASA1):c.*16T>C rs770822619 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.2608T>C (p.Leu870=) rs372498033 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.89A>G (p.Tyr30Cys) rs376663338 0.00004
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993 0.00004
NM_000020.3(ACVRL1):c.*1107G>T rs1459562251 0.00003
NM_000020.3(ACVRL1):c.*2113C>T rs777884246 0.00003
NM_000020.3(ACVRL1):c.*2268G>C rs929096514 0.00003
NM_000020.3(ACVRL1):c.*251A>G rs886049613 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.518T>C (p.Met173Thr) rs754813319 0.00003
NM_001114753.3(ENG):c.1067T>A (p.Met356Lys) rs138190783 0.00003
NM_001114753.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141 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.589C>T (p.Arg197Trp) rs780987528 0.00003
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu) rs781715616 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_002890.3(RASA1):c.*577T>C rs1488076469 0.00003
NM_002890.3(RASA1):c.1280G>A (p.Arg427Gln) rs755634472 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.566C>T (p.Thr189Met) rs986802785 0.00003
NM_002890.3(RASA1):c.885C>A (p.Asp295Glu) rs145354256 0.00003
NM_004444.5(EPHB4):c.1190G>A (p.Arg397His) rs538766032 0.00003
NM_004444.5(EPHB4):c.2365C>T (p.Pro789Ser) rs1417508111 0.00003
NM_005359.6(SMAD4):c.*2630A>G rs768569083 0.00003
NM_016204.4(GDF2):c.484C>A (p.Pro162Thr) rs139154868 0.00003
NM_016204.4(GDF2):c.646C>T (p.Arg216Trp) rs556004917 0.00003
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577 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_001114753.3(ENG):c.*4C>T rs775604819 0.00002
NM_001114753.3(ENG):c.-23G>A rs1311087483 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.1311+6A>G rs1060501416 0.00002
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu) rs927607049 0.00002
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg) rs765564489 0.00002
NM_001114753.3(ENG):c.1806C>T (p.Ile602=) rs373002544 0.00002
NM_001114753.3(ENG):c.1876G>A (p.Val626Met) rs745843047 0.00002
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu) rs1169024767 0.00002
NM_001114753.3(ENG):c.361-12_361-11del rs781079790 0.00002
NM_001114753.3(ENG):c.686C>A (p.Ala229Asp) rs971190119 0.00002
NM_001114753.3(ENG):c.805A>G (p.Met269Val) rs1323617205 0.00002
NM_002890.3(RASA1):c.1103T>G (p.Val368Gly) rs1038459573 0.00002
NM_002890.3(RASA1):c.1368C>T (p.Gly456=) rs774547215 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.2189T>C (p.Ile730Thr) rs758288921 0.00002
NM_002890.3(RASA1):c.2221T>G (p.Leu741Val) rs200416306 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.2761T>G (p.Ser921Ala) rs775945854 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.848G>A (p.Arg283His) rs753769946 0.00002
NM_002890.3(RASA1):c.854G>A (p.Arg285Gln) rs374823017 0.00002
NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser) rs1272846013 0.00002
NM_016204.4(GDF2):c.619G>T (p.Val207Leu) rs148262680 0.00002
NM_000020.3(ACVRL1):c.*1599A>G rs1438021354 0.00001
NM_000020.3(ACVRL1):c.*2098A>C rs886049619 0.00001
NM_000020.3(ACVRL1):c.*2252G>A rs1293668616 0.00001
NM_000020.3(ACVRL1):c.*2440G>T rs527990415 0.00001
NM_000020.3(ACVRL1):c.*814G>A rs1297798490 0.00001
NM_000020.3(ACVRL1):c.*879G>T rs886049615 0.00001
NM_000020.3(ACVRL1):c.*980C>T rs1376992134 0.00001
NM_000020.3(ACVRL1):c.-168G>C rs1465380790 0.00001
NM_000020.3(ACVRL1):c.-5-59C>T rs563686436 0.00001
NM_000020.3(ACVRL1):c.-58G>A rs886049608 0.00001
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.1103C>T (p.Pro368Leu) rs748123979 0.00001
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg) rs1324917279 0.00001
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp) rs768072967 0.00001
NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu) rs777206350 0.00001
NM_000020.3(ACVRL1):c.599G>A (p.Arg200Gln) rs1018788708 0.00001
NM_000020.3(ACVRL1):c.722G>A (p.Arg241Gln) rs202062929 0.00001
NM_001114753.3(ENG):c.*109C>T rs553180494 0.00001
NM_001114753.3(ENG):c.*150C>A rs886063475 0.00001
NM_001114753.3(ENG):c.*252C>A rs886063474 0.00001
NM_001114753.3(ENG):c.*438G>A rs1830275627 0.00001
NM_001114753.3(ENG):c.*534C>T rs893984357 0.00001
NM_001114753.3(ENG):c.*586C>T rs1045413208 0.00001
NM_001114753.3(ENG):c.-249C>A rs914868382 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.111C>T (p.Pro37=) rs755626994 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.1313A>G (p.Lys438Arg) rs755962839 0.00001
NM_001114753.3(ENG):c.1314A>G (p.Lys438=) rs750412250 0.00001
NM_001114753.3(ENG):c.1335G>A (p.Met445Ile) rs777564305 0.00001
NM_001114753.3(ENG):c.1402G>C (p.Glu468Gln) rs370554511 0.00001
NM_001114753.3(ENG):c.1408G>C (p.Gly470Arg) rs756263325 0.00001
NM_001114753.3(ENG):c.1428+5C>G rs1564452925 0.00001
NM_001114753.3(ENG):c.1528C>T (p.Arg510Trp) rs201517535 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.1696A>G (p.Arg566Gly) rs1428529909 0.00001
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg) rs759341808 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.1852C>T (p.Arg618Cys) rs1346184000 0.00001
NM_001114753.3(ENG):c.1853-18C>T rs908692674 0.00001
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr) rs768873662 0.00001
NM_001114753.3(ENG):c.219+3G>A rs1419279746 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.442G>C (p.Glu148Gln) rs770290260 0.00001
NM_001114753.3(ENG):c.534_536del (p.Leu179del) rs1285249384 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.633C>T (p.Gly211=) rs928192105 0.00001
NM_001114753.3(ENG):c.68-17G>A rs570198729 0.00001
NM_001114753.3(ENG):c.680A>G (p.His227Arg) rs377548944 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.790G>A (p.Asp264Asn) rs1210433339 0.00001
NM_001114753.3(ENG):c.816+6T>C rs759191907 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.943G>A (p.Val315Met) rs763508329 0.00001
NM_002890.3(RASA1):c.*271A>C rs1187222979 0.00001
NM_002890.3(RASA1):c.*448T>G rs886060847 0.00001
NM_002890.3(RASA1):c.*9G>A rs886060845 0.00001
NM_002890.3(RASA1):c.-179A>C rs886060838 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.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.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.1305T>C (p.Tyr435=) rs778801311 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.1423A>G (p.Ile475Val) rs757154079 0.00001
NM_002890.3(RASA1):c.1453+6T>C rs1352575365 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.179C>T (p.Thr60Ile) rs779770765 0.00001
NM_002890.3(RASA1):c.17C>T (p.Ala6Val) rs1010729751 0.00001
NM_002890.3(RASA1):c.1970C>T (p.Thr657Ile) rs1206604314 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.248G>C (p.Gly83Ala) rs755788420 0.00001
NM_002890.3(RASA1):c.2574A>T (p.Lys858Asn) rs771835302 0.00001
NM_002890.3(RASA1):c.2603+3A>G rs763113460 0.00001
NM_002890.3(RASA1):c.2638T>A (p.Ser880Thr) rs878854571 0.00001
NM_002890.3(RASA1):c.2747A>G (p.Asn916Ser) rs765747521 0.00001
NM_002890.3(RASA1):c.2897G>A (p.Arg966His) rs757298110 0.00001
NM_002890.3(RASA1):c.2926-14C>T rs886060843 0.00001
NM_002890.3(RASA1):c.2942C>T (p.Pro981Leu) rs772714180 0.00001
NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln) rs886060844 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.3064G>A (p.Val1022Ile) rs373643445 0.00001
NM_002890.3(RASA1):c.3133G>T (p.Asp1045Tyr) rs144524710 0.00001
NM_002890.3(RASA1):c.338A>T (p.Asp113Val) rs748658296 0.00001
NM_002890.3(RASA1):c.351C>T (p.Thr117=) rs763970609 0.00001
NM_002890.3(RASA1):c.398G>A (p.Gly133Asp) rs1002148193 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.508G>A (p.Ala170Thr) rs761820082 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.917T>C (p.Met306Thr) rs757272694 0.00001
NM_002890.3(RASA1):c.992T>C (p.Ile331Thr) rs756457101 0.00001
NM_004444.5(EPHB4):c.1546G>A (p.Gly516Arg) rs776305185 0.00001
NM_004444.5(EPHB4):c.2173G>A (p.Ala725Thr) rs1159930961 0.00001
NM_005359.6(SMAD4):c.*3843G>A rs886053915 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.1255G>A (p.Glu419Lys) rs782137039 0.00001
NM_016204.4(GDF2):c.252G>A (p.Glu84=) rs1410431494 0.00001
NM_016204.4(GDF2):c.286T>C (p.Tyr96His) rs142466901 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.825del (p.Met275fs) rs1555209009 0.00001
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp) rs559992144 0.00001
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080 0.00001
NC_000005.9:g.(?_86564269)_(86564827_?)dup
NC_000005.9:g.(?_86564269)_(86649072_?)dup
NC_000005.9:g.(?_86627145)_(86659341_?)del
NC_000005.9:g.(?_86675532)_(86685364_?)dup
NC_000009.11:g.(?_130578190)_(130616640_?)dup
NC_000009.11:g.(?_130578196)_(130616761_?)dup
NC_000009.11:g.(?_130586563)_(130587263_?)dup
NC_000009.11:g.(?_130586563)_(130588971_?)dup
NC_000009.12:g.(?_127819612)_(127820047_?)dup
NC_000010.10:g.(?_48413558)_(48416713_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)dup
NC_000012.11:g.(?_52306259)_(52310037_?)dup
NM_000020.3(ACVRL1):c.*131C>T rs886049610
NM_000020.3(ACVRL1):c.*1351G>A rs886049616
NM_000020.3(ACVRL1):c.*1560A>G rs80260084
NM_000020.3(ACVRL1):c.*1630C>T rs886049617
NM_000020.3(ACVRL1):c.*200A>G rs886049611
NM_000020.3(ACVRL1):c.*2034G>T rs1941017240
NM_000020.3(ACVRL1):c.*205G>A rs886049612
NM_000020.3(ACVRL1):c.*478G>A rs1940976966
NM_000020.3(ACVRL1):c.*592G>A rs1940979955
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1010T>G (p.Leu337Arg)
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly) rs1940812234
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.1036A>T (p.Ile346Phe)
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.1040_1042dup (p.Ala347_Asp348insAla)
NM_000020.3(ACVRL1):c.1044_1048+4dup
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT rs1940814416
NM_000020.3(ACVRL1):c.1111G>T (p.Gly371Cys) rs2139076199
NM_000020.3(ACVRL1):c.1112G>C (p.Gly371Ala) rs1940832594
NM_000020.3(ACVRL1):c.1135G>C (p.Glu379Gln)
NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)
NM_000020.3(ACVRL1):c.1163A>G (p.Asp388Gly) rs1940835356
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.1187C>T (p.Thr396Ile)
NM_000020.3(ACVRL1):c.1192A>G (p.Ile398Val)
NM_000020.3(ACVRL1):c.1211T>A (p.Val404Glu)
NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His)
NM_000020.3(ACVRL1):c.1246+5G>A rs1940838881
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala) rs1940905575
NM_000020.3(ACVRL1):c.124_138del (p.Lys42_Cys46del) rs2139064546
NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met) rs753480401
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del) rs1940907616
NM_000020.3(ACVRL1):c.1327T>G (p.Cys443Gly)
NM_000020.3(ACVRL1):c.1361G>A (p.Arg454Gln)
NM_000020.3(ACVRL1):c.1377+4A>T rs1940909579
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=) rs61734312
NM_000020.3(ACVRL1):c.1378-297T>A
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.3(ACVRL1):c.1403T>G (p.Met468Arg)
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp) rs760773605
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.1432G>C (p.Ala478Pro) rs1295923763
NM_000020.3(ACVRL1):c.1444G>A (p.Ala482Thr)
NM_000020.3(ACVRL1):c.1444G>C (p.Ala482Pro)
NM_000020.3(ACVRL1):c.1448T>G (p.Leu483Arg) rs1565597471
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu) rs1940959530
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.182G>A (p.Arg61Lys)
NM_000020.3(ACVRL1):c.183G>C (p.Arg61Ser)
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
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.271G>A (p.Asp91Asn)
NM_000020.3(ACVRL1):c.281T>C (p.Leu94Pro)
NM_000020.3(ACVRL1):c.313+7C>T rs374171506
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.466G>A (p.Glu156Lys)
NM_000020.3(ACVRL1):c.476A>G (p.Glu159Gly)
NM_000020.3(ACVRL1):c.499T>C (p.Ser167Pro)
NM_000020.3(ACVRL1):c.526-13T>A
NM_000020.3(ACVRL1):c.526-7C>A rs772776468
NM_000020.3(ACVRL1):c.526-7C>G
NM_000020.3(ACVRL1):c.576C>G (p.Phe192Leu)
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000020.3(ACVRL1):c.586A>G (p.Arg196Gly)
NM_000020.3(ACVRL1):c.589A>G (p.Thr197Ala)
NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala) rs886043123
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.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.626-9G>A rs1940780208
NM_000020.3(ACVRL1):c.646_657dup (p.Val216_Gly219dup) rs2139070394
NM_000020.3(ACVRL1):c.653G>C (p.Arg218Pro) rs779287554
NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser) rs1940782114
NM_000020.3(ACVRL1):c.667G>C (p.Gly223Arg)
NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.713C>T (p.Ser238Phe) rs761033311
NM_000020.3(ACVRL1):c.721C>T (p.Arg241Trp)
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys) rs755026232
NM_000020.3(ACVRL1):c.748T>G (p.Leu250Val)
NM_000020.3(ACVRL1):c.758A>G (p.His253Arg) rs2139070976
NM_000020.3(ACVRL1):c.761ACA[1] (p.Asn255del)
NM_000020.3(ACVRL1):c.763A>G (p.Asn255Asp)
NM_000020.3(ACVRL1):c.770T>C (p.Leu257Pro) rs2139071033
NM_000020.3(ACVRL1):c.772+14_772+16delinsTAG
NM_000020.3(ACVRL1):c.812C>G (p.Thr271Arg)
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys) rs757645341
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
NM_000020.3(ACVRL1):c.847G>A (p.Gly283Ser)
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.916_917delinsAA (p.Ala306Lys) rs1060503244
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu) rs863223411
NM_000020.3(ACVRL1):c.925G>C (p.Gly309Arg) rs1555153133
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.984C>A (p.His328Gln) rs1565594410
NM_000118.3(ENG):c.-338G>A rs534779092
NM_000118.3(ENG):c.-339C>T rs554349374
NM_000118.3(ENG):c.-364G>A rs1011392059
NM_000118.3(ENG):c.-395C>A rs886063479
NM_001114753.3(ENG):c.*391G>A rs1830277239
NM_001114753.3(ENG):c.*424G>C rs1482022005
NM_001114753.3(ENG):c.*530T>A rs1830273682
NM_001114753.3(ENG):c.*533G>A rs1830273631
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.-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.-289A>C rs538284289
NM_001114753.3(ENG):c.-2G>T
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.-90G>C rs768083796
NM_001114753.3(ENG):c.-94C>G
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.1036C>T (p.Pro346Ser) rs1554810062
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.1093G>T (p.Asp365Tyr) rs548690138
NM_001114753.3(ENG):c.1099G>C (p.Ala367Pro) rs372371435
NM_001114753.3(ENG):c.1100C>G (p.Ala367Gly)
NM_001114753.3(ENG):c.1106C>T (p.Thr369Ile) rs775352287
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln) rs1830547696
NM_001114753.3(ENG):c.1110_1115dup (p.Leu372_Lys373insValLeu) rs1830547424
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1135C>A (p.His379Asn) rs771599199
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.116G>A (p.Arg39Lys) rs892005175
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.1177A>G (p.Ser393Gly) rs781518626
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr) rs1830434129
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser) rs1418330913
NM_001114753.3(ENG):c.119_133del (p.Gly40_Thr45delinsAla)
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.1223C>T (p.Ala408Val)
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr) rs1830432509
NM_001114753.3(ENG):c.1242G>C (p.Met414Ile)
NM_001114753.3(ENG):c.1256G>C (p.Ser419Thr)
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met) rs760446518
NM_001114753.3(ENG):c.1271A>T (p.Glu424Val)
NM_001114753.3(ENG):c.1272+2dup
NM_001114753.3(ENG):c.1273-21_1273-20delinsAT
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.1282A>C (p.Asn428His) rs875989811
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.130T>C (p.Tyr44His) rs1554812271
NM_001114753.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
NM_001114753.3(ENG):c.1312-3C>G rs2131877153
NM_001114753.3(ENG):c.1317G>C (p.Lys439Asn)
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn) rs1830399300
NM_001114753.3(ENG):c.1336G>T (p.Asp446Tyr)
NM_001114753.3(ENG):c.1350C>T (p.Phe450=)
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg) rs1830398628
NM_001114753.3(ENG):c.1361T>C (p.Leu454Pro)
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
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.1414C>G (p.Gln472Glu)
NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg) rs561818608
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+5C>A rs1564452925
NM_001114753.3(ENG):c.1429-127A>G
NM_001114753.3(ENG):c.1429-13C>G
NM_001114753.3(ENG):c.1429-3C>T
NM_001114753.3(ENG):c.1429-8C>G rs376169815
NM_001114753.3(ENG):c.1429-9_1429-6dup rs762494923
NM_001114753.3(ENG):c.1441C>T (p.Pro481Ser) rs1554809289
NM_001114753.3(ENG):c.1453G>A (p.Glu485Lys)
NM_001114753.3(ENG):c.1456T>C (p.Phe486Leu) rs1830385483
NM_001114753.3(ENG):c.1486G>A (p.Asp496Asn) rs2131876065
NM_001114753.3(ENG):c.1502G>A (p.Gly501Glu) rs2131876010
NM_001114753.3(ENG):c.1511T>A (p.Val504Glu) rs1178081923
NM_001114753.3(ENG):c.1532C>A (p.Ala511Glu)
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr) rs2131875889
NM_001114753.3(ENG):c.1600C>T (p.Leu534Phe)
NM_001114753.3(ENG):c.1603_1608del (p.His535_Phe536del)
NM_001114753.3(ENG):c.1614A>G (p.Thr538=) rs1247391985
NM_001114753.3(ENG):c.1643G>A (p.Ser548Asn)
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.1648A>C (p.Thr550Pro)
NM_001114753.3(ENG):c.1655C>T (p.Ala552Val)
NM_001114753.3(ENG):c.1664C>A (p.Pro555His)
NM_001114753.3(ENG):c.1673G>A (p.Gly558Glu)
NM_001114753.3(ENG):c.1682A>G (p.Asp561Gly) rs375965489
NM_001114753.3(ENG):c.1685A>C (p.Gln562Pro)
NM_001114753.3(ENG):c.1686G>C (p.Gln562His)
NM_001114753.3(ENG):c.1695T>A (p.His565Gln) rs750637713
NM_001114753.3(ENG):c.1699A>G (p.Thr567Ala) rs1554809101
NM_001114753.3(ENG):c.16C>T (p.Leu6Phe)
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.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.1738T>A (p.Ser580Thr)
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.1780G>A (p.Gly594Ser) rs1060501409
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala) rs1830302512
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.1826C>T (p.Ala609Val)
NM_001114753.3(ENG):c.1852+1G>C rs2131871398
NM_001114753.3(ENG):c.1852+21C>T
NM_001114753.3(ENG):c.1852+3G>A
NM_001114753.3(ENG):c.1852+51C>G rs373626498
NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)
NM_001114753.3(ENG):c.194A>G (p.His65Arg) rs1267116267
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.219+5G>T rs1554812252
NM_001114753.3(ENG):c.219G>T (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.220-12T>A
NM_001114753.3(ENG):c.220-6C>A rs756342212
NM_001114753.3(ENG):c.221G>C (p.Gly74Ala)
NM_001114753.3(ENG):c.223C>A (p.Pro75Thr)
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser) rs376186413
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro) rs1830718809
NM_001114753.3(ENG):c.266G>C (p.Gly89Ala)
NM_001114753.3(ENG):c.26C>G (p.Ala9Gly)
NM_001114753.3(ENG):c.277C>G (p.Arg93Gly)
NM_001114753.3(ENG):c.310A>C (p.Ser104Arg) rs757343854
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.32C>T (p.Ala11Val)
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.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+2dup
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.37C>A (p.Leu13Met)
NM_001114753.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_001114753.3(ENG):c.397G>T (p.Val133Phe)
NM_001114753.3(ENG):c.410A>G (p.Glu137Gly)
NM_001114753.3(ENG):c.428A>C (p.Lys143Thr)
NM_001114753.3(ENG):c.435G>C (p.Gln145His)
NM_001114753.3(ENG):c.451G>T (p.Ala151Ser) rs2131890519
NM_001114753.3(ENG):c.457A>G (p.Arg153Gly)
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.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>A (p.Ser167Arg) rs1830619812
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.512G>T (p.Arg171Leu)
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.565G>T (p.Asp189Tyr) rs147792018
NM_001114753.3(ENG):c.575_577dup (p.Arg192_Thr193insSer)
NM_001114753.3(ENG):c.577A>G (p.Thr193Ala) rs1588582905
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) rs2131889364
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys) rs1255912441
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg) rs2131889336
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.605C>A (p.Ala202Asp) rs750916329
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu) rs1830597676
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del) rs1830596103
NM_001114753.3(ENG):c.67+5G>T
NM_001114753.3(ENG):c.67+6_67+14del rs2131936455
NM_001114753.3(ENG):c.673C>A (p.Pro225Thr)
NM_001114753.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_001114753.3(ENG):c.673C>T (p.Pro225Ser) rs1554810373
NM_001114753.3(ENG):c.67A>C (p.Ser23Arg)
NM_001114753.3(ENG):c.68-4A>G rs1564462843
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr) rs2131888946
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg) rs546671241
NM_001114753.3(ENG):c.689+3A>T
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr) rs1253367171
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.704C>A (p.Thr235Lys) rs1361480439
NM_001114753.3(ENG):c.712G>T (p.Val238Leu)
NM_001114753.3(ENG):c.716A>T (p.Glu239Val)
NM_001114753.3(ENG):c.728C>T (p.Ala243Val)
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
NM_001114753.3(ENG):c.764G>T (p.Gly255Val) rs2131887828
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser) rs143779963
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.775G>A (p.Val259Met)
NM_001114753.3(ENG):c.776T>G (p.Val259Gly) rs895393705
NM_001114753.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
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.7C>G (p.Arg3Gly) rs139334561
NM_001114753.3(ENG):c.806T>C (p.Met269Thr) rs752331196
NM_001114753.3(ENG):c.817-3T>C
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile) rs1169613826
NM_001114753.3(ENG):c.824G>A (p.Gly275Glu) rs2131887192
NM_001114753.3(ENG):c.829T>C (p.Tyr277His) rs1460443094
NM_001114753.3(ENG):c.830A>G (p.Tyr277Cys)
NM_001114753.3(ENG):c.836T>G (p.Phe279Cys)
NM_001114753.3(ENG):c.844T>G (p.Phe282Val)
NM_001114753.3(ENG):c.854A>G (p.Lys285Arg)
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp) rs1830570208
NM_001114753.3(ENG):c.872_883del (p.Lys291_Asp294del) rs2131887067
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.8G>A (p.Arg3His) rs1588604597
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg) rs1830569316
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp) rs754842280
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.923_925dup (p.Ala308_Ser309insThr) rs1830567981
NM_001114753.3(ENG):c.943G>T (p.Val315Leu)
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.956T>G (p.Leu319Arg)
NM_001114753.3(ENG):c.966T>G (p.Ile322Met)
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro) rs1830566735
NM_001114753.3(ENG):c.982T>A (p.Ser328Thr)
NM_001114753.3(ENG):c.985A>T (p.Ser329Cys) rs1280918470
NM_001114753.3(ENG):c.989G>T (p.Cys330Phe)
NM_001114753.3(ENG):c.992-3C>G rs1830552318
NM_001114753.3(ENG):c.992-3C>T rs1830552318
NM_001114753.3(ENG):c.992G>T (p.Gly331Val)
NM_002890.3(RASA1):c.*1000GTTAA[1] rs886060850
NM_002890.3(RASA1):c.*267C>G rs1762485512
NM_002890.3(RASA1):c.*424G>A rs191725379
NM_002890.3(RASA1):c.*572C>A rs886060848
NM_002890.3(RASA1):c.*606G>A rs1762511406
NM_002890.3(RASA1):c.*840ATT[1] rs201705926
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.*96C>G rs983905296
NM_002890.3(RASA1):c.1000G>C (p.Asp334His)
NM_002890.3(RASA1):c.1017delinsTTAC (p.Val339_Gly340insTyr) rs1758104033
NM_002890.3(RASA1):c.1018-3T>C
NM_002890.3(RASA1):c.1019G>T (p.Gly340Val)
NM_002890.3(RASA1):c.1021C>T (p.Arg341Trp)
NM_002890.3(RASA1):c.1049+5G>T rs1580307103
NM_002890.3(RASA1):c.1055T>C (p.Phe352Ser) rs2112414697
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.111G>C (p.Lys37Asn)
NM_002890.3(RASA1):c.1130_1144dup (p.Asn381_Thr382insArgProSerAspAsn)
NM_002890.3(RASA1):c.1141A>G (p.Asn381Asp) rs1060503437
NM_002890.3(RASA1):c.1151G>C (p.Gly384Ala)
NM_002890.3(RASA1):c.116C>T (p.Pro39Leu)
NM_002890.3(RASA1):c.118G>A (p.Ala40Thr)
NM_002890.3(RASA1):c.118G>T (p.Ala40Ser)
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.1241G>A (p.Arg414Gln)
NM_002890.3(RASA1):c.1253+5A>G
NM_002890.3(RASA1):c.1253+6T>C rs2112421845
NM_002890.3(RASA1):c.1255A>G (p.Ile419Val)
NM_002890.3(RASA1):c.1261G>A (p.Asp421Asn)
NM_002890.3(RASA1):c.1267A>G (p.Ile423Val)
NM_002890.3(RASA1):c.1298A>C (p.Glu433Ala) rs1759407260
NM_002890.3(RASA1):c.1300G>A (p.Gly434Arg) rs753506212
NM_002890.3(RASA1):c.1306T>A (p.Tyr436Asn)
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.1332+3C>G
NM_002890.3(RASA1):c.1333-18A>G rs2112456229
NM_002890.3(RASA1):c.1336C>G (p.Gln446Glu) rs2112456363
NM_002890.3(RASA1):c.1345G>C (p.Val449Leu)
NM_002890.3(RASA1):c.1349T>C (p.Leu450Pro)
NM_002890.3(RASA1):c.1355A>C (p.Asp452Ala)
NM_002890.3(RASA1):c.1363G>A (p.Asp455Asn)
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.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.1453G>A (p.Gly485Ser)
NM_002890.3(RASA1):c.1454-12_1454-7del rs60835976
NM_002890.3(RASA1):c.1463A>G (p.Lys488Arg)
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.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.157G>C (p.Val53Leu) rs2112222387
NM_002890.3(RASA1):c.1610+3A>G
NM_002890.3(RASA1):c.1611-15G>A rs1760796647
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.1661T>A (p.Ile554Asn)
NM_002890.3(RASA1):c.1673C>A (p.Ala558Glu)
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+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.1719G>C (p.Gln573His) rs1760995498
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.1777-3T>A rs1580380301
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.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.1813A>C (p.Lys605Gln)
NM_002890.3(RASA1):c.1828C>T (p.His610Tyr)
NM_002890.3(RASA1):c.1835C>T (p.Thr612Ile)
NM_002890.3(RASA1):c.1852A>G (p.Ile618Val)
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.1888G>C (p.Ala630Pro) rs1580380538
NM_002890.3(RASA1):c.188G>T (p.Gly63Val) rs754945616
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.1934+6T>C
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.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+4A>C rs886060840
NM_002890.3(RASA1):c.2011+6T>A rs1554049237
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.2036G>A (p.Arg679Gln)
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
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.2102T>C (p.Ile701Thr)
NM_002890.3(RASA1):c.2119C>T (p.Arg707Cys)
NM_002890.3(RASA1):c.211T>C (p.Phe71Leu) rs2112222520
NM_002890.3(RASA1):c.2126G>A (p.Arg709Gln)
NM_002890.3(RASA1):c.2134T>C (p.Tyr712His) rs1027956355
NM_002890.3(RASA1):c.2145A>C (p.Glu715Asp)
NM_002890.3(RASA1):c.2155C>A (p.Pro719Thr)
NM_002890.3(RASA1):c.2160A>C (p.Glu720Asp)
NM_002890.3(RASA1):c.2161G>A (p.Glu721Lys)
NM_002890.3(RASA1):c.2185-5T>G rs2112491988
NM_002890.3(RASA1):c.2191C>A (p.Leu731Met)
NM_002890.3(RASA1):c.2200G>C (p.Glu734Gln)
NM_002890.3(RASA1):c.220G>T (p.Ala74Ser) rs980967533
NM_002890.3(RASA1):c.2210T>C (p.Val737Ala)
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.2263A>G (p.Ile755Val) rs1180041614
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.22_23inv (p.Ser8Leu)
NM_002890.3(RASA1):c.2300C>G (p.Ser767Trp)
NM_002890.3(RASA1):c.2303T>C (p.Leu768Ser)
NM_002890.3(RASA1):c.230T>G (p.Val77Gly)
NM_002890.3(RASA1):c.2311T>C (p.Cys771Arg)
NM_002890.3(RASA1):c.2353A>C (p.Thr785Pro) rs2112495513
NM_002890.3(RASA1):c.2357C>T (p.Thr786Ile)
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.239C>T (p.Ala80Val) rs764720303
NM_002890.3(RASA1):c.23G>C (p.Ser8Thr)
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.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.2461A>G (p.Ile821Val) rs1554049698
NM_002890.3(RASA1):c.2462T>A (p.Ile821Lys) rs2112495755
NM_002890.3(RASA1):c.2462T>C (p.Ile821Thr)
NM_002890.3(RASA1):c.2487+11A>C rs886060842
NM_002890.3(RASA1):c.248G>T (p.Gly83Val) rs755788420
NM_002890.3(RASA1):c.2491A>C (p.Ser831Arg)
NM_002890.3(RASA1):c.2504T>C (p.Leu835Ser) rs1445029428
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.2527A>G (p.Thr843Ala)
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg) rs754858818
NM_002890.3(RASA1):c.2546T>C (p.Leu849Ser)
NM_002890.3(RASA1):c.2552T>C (p.Ile851Thr)
NM_002890.3(RASA1):c.2582T>C (p.Met861Thr) rs1761583366
NM_002890.3(RASA1):c.2594T>C (p.Ile865Thr)
NM_002890.3(RASA1):c.2602C>A (p.Pro868Thr)
NM_002890.3(RASA1):c.2603+4A>T
NM_002890.3(RASA1):c.2616T>C (p.Tyr872=)
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.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.2680A>G (p.Arg894Gly) rs2112500864
NM_002890.3(RASA1):c.2681G>A (p.Arg894Lys)
NM_002890.3(RASA1):c.2690+4A>G rs2112500896
NM_002890.3(RASA1):c.2708G>A (p.Arg903Gln) rs2112509032
NM_002890.3(RASA1):c.271A>C (p.Thr91Pro)
NM_002890.3(RASA1):c.2723C>G (p.Ala908Gly) rs1761886517
NM_002890.3(RASA1):c.272C>T (p.Thr91Ile)
NM_002890.3(RASA1):c.2733T>A (p.Asn911Lys) rs766721039
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.2759-12A>G
NM_002890.3(RASA1):c.2759-3_2759-2del
NM_002890.3(RASA1):c.2759-5T>G
NM_002890.3(RASA1):c.2795T>C (p.Leu932Ser) rs1554050426
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp) rs1205377315
NM_002890.3(RASA1):c.2828T>C (p.Leu943Pro)
NM_002890.3(RASA1):c.2858T>C (p.Met953Thr)
NM_002890.3(RASA1):c.285_305del (p.93AGVAGAA[1]) rs745572583
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.288_308del (p.93AGVAGAA[1])
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.2925G>A (p.Gly975=)
NM_002890.3(RASA1):c.2926-2_2927dup
NM_002890.3(RASA1):c.293C>G (p.Ala98Gly)
NM_002890.3(RASA1):c.2943G>T (p.Pro981=)
NM_002890.3(RASA1):c.2957A>T (p.His986Leu)
NM_002890.3(RASA1):c.2966C>T (p.Thr989Met)
NM_002890.3(RASA1):c.2977C>T (p.Arg993Cys)
NM_002890.3(RASA1):c.2978G>A (p.Arg993His)
NM_002890.3(RASA1):c.2985A>T (p.Leu995Phe)
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.3007G>A (p.Val1003Met)
NM_002890.3(RASA1):c.3007G>C (p.Val1003Leu) rs758894954
NM_002890.3(RASA1):c.3011C>T (p.Ala1004Val) rs2112525174
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.3037A>G (p.Ser1013Gly) rs993477801
NM_002890.3(RASA1):c.303_326del (p.Val102_Gly109del) rs768241743
NM_002890.3(RASA1):c.3046C>T (p.Arg1016Cys)
NM_002890.3(RASA1):c.3060+1G>T rs1580418269
NM_002890.3(RASA1):c.3070A>C (p.Lys1024Gln)
NM_002890.3(RASA1):c.307G>A (p.Ala103Thr)
NM_002890.3(RASA1):c.3090_3140dup (p.Arg1047_Ter1048insGluLeuLeuGlnGlnLysGlnAsnGlnTyrThrLysThrAsnAspValArg) rs2112530518
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.3141_*50dup (p.Arg1047_Ter1048=)
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.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.353A>G (p.Lys118Arg)
NM_002890.3(RASA1):c.358C>T (p.Pro120Ser) rs1266753350
NM_002890.3(RASA1):c.359C>G (p.Pro120Arg)
NM_002890.3(RASA1):c.365C>T (p.Ser122Leu)
NM_002890.3(RASA1):c.374C>G (p.Ala125Gly)
NM_002890.3(RASA1):c.382C>T (p.Leu128Phe)
NM_002890.3(RASA1):c.38C>G (p.Pro13Arg)
NM_002890.3(RASA1):c.395_396delinsTT (p.Gly132Val) rs1554038863
NM_002890.3(RASA1):c.402T>C (p.Phe134=) rs1329000012
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.415C>G (p.Pro139Ala)
NM_002890.3(RASA1):c.418C>A (p.Pro140Thr) rs751440049
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu) rs1753694671
NM_002890.3(RASA1):c.433C>T (p.Pro145Ser)
NM_002890.3(RASA1):c.43A>G (p.Thr15Ala)
NM_002890.3(RASA1):c.443C>T (p.Ala148Val)
NM_002890.3(RASA1):c.44C>T (p.Thr15Ile) rs899638423
NM_002890.3(RASA1):c.454A>G (p.Thr152Ala) rs1753696601
NM_002890.3(RASA1):c.469G>A (p.Asp157Asn)
NM_002890.3(RASA1):c.484C>G (p.Pro162Ala)
NM_002890.3(RASA1):c.50G>T (p.Gly17Val)
NM_002890.3(RASA1):c.515C>T (p.Pro172Leu) rs776808856
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.539+20C>T
NM_002890.3(RASA1):c.539+298G>A
NM_002890.3(RASA1):c.539+3A>G rs1561245221
NM_002890.3(RASA1):c.539+6T>G
NM_002890.3(RASA1):c.549C>A (p.His183Gln)
NM_002890.3(RASA1):c.577G>A (p.Glu193Lys)
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.607A>C (p.Ser203Arg)
NM_002890.3(RASA1):c.608G>A (p.Ser203Asn)
NM_002890.3(RASA1):c.628G>A (p.Asp210Asn)
NM_002890.3(RASA1):c.631C>G (p.Arg211Gly) rs757065933
NM_002890.3(RASA1):c.637C>T (p.Pro213Ser) rs2112366190
NM_002890.3(RASA1):c.644C>T (p.Ser215Phe)
NM_002890.3(RASA1):c.656C>T (p.Ser219Leu) rs1554044823
NM_002890.3(RASA1):c.672G>A (p.Met224Ile)
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.692+6T>G
NM_002890.3(RASA1):c.693-5A>G rs1757676959
NM_002890.3(RASA1):c.694A>G (p.Ile232Val)
NM_002890.3(RASA1):c.703A>G (p.Met235Val) rs1757677358
NM_002890.3(RASA1):c.753C>G (p.Asp251Glu)
NM_002890.3(RASA1):c.75G>A (p.Ala25=) rs529924262
NM_002890.3(RASA1):c.79T>C (p.Ser27Pro) rs1753667262
NM_002890.3(RASA1):c.805C>G (p.Leu269Val)
NM_002890.3(RASA1):c.80C>T (p.Ser27Phe)
NM_002890.3(RASA1):c.82A>G (p.Ser28Gly)
NM_002890.3(RASA1):c.839A>G (p.Asp280Gly)
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.88T>A (p.Tyr30Asn)
NM_002890.3(RASA1):c.899+8A>G rs781285667
NM_002890.3(RASA1):c.900-14A>G
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.92C>G (p.Pro31Arg) rs1484820367
NM_002890.3(RASA1):c.92C>T (p.Pro31Leu)
NM_002890.3(RASA1):c.98T>C (p.Val33Ala) rs2112222218
NM_004444.5(EPHB4):c.1109G>T (p.Cys370Phe)
NM_004444.5(EPHB4):c.1362G>C (p.Trp454Cys) rs2116447376
NM_004444.5(EPHB4):c.1406T>G (p.Val469Gly) rs1584662591
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) rs146937374
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) rs1584667224
NM_004444.5(EPHB4):c.1966C>T (p.Arg656Trp) rs745584371
NM_004444.5(EPHB4):c.2164C>T (p.Arg722Trp) rs927472085
NM_004444.5(EPHB4):c.221G>C (p.Arg74Pro) rs61735971
NM_004444.5(EPHB4):c.2366C>G (p.Pro789Arg) rs753075600
NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg) rs1330628156
NM_004444.5(EPHB4):c.2458C>A (p.Pro820Thr) rs1584653653
NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu) rs1584653650
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr) rs1584653005
NM_004444.5(EPHB4):c.2609T>A (p.Val870Glu) rs1584652920
NM_004444.5(EPHB4):c.2621T>C (p.Leu874Pro) rs1584652900
NM_004444.5(EPHB4):c.282G>T (p.Met94Ile)
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.560T>C (p.Leu187Pro) rs1584666053
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_004444.5(EPHB4):c.853T>C (p.Cys285Arg)
NM_004444.5(EPHB4):c.964+3A>T
NM_005359.6(SMAD4):c.*1512dup rs755827115
NM_005359.6(SMAD4):c.*1564_*1567del rs886053903
NM_005359.6(SMAD4):c.*2707_*2711del rs769541605
NM_005359.6(SMAD4):c.*4991dup rs886053919
NM_005359.6(SMAD4):c.*5004_*5005dup rs113155703
NM_005359.6(SMAD4):c.*5535_*5540del rs147193925
NM_005359.6(SMAD4):c.*5535_*5545delinsGCGCACA rs886053923
NM_005359.6(SMAD4):c.*5535_*5547delinsGCG rs886053924
NM_005359.6(SMAD4):c.*5535_*5549delinsG rs886053925
NM_005359.6(SMAD4):c.*5537GC[4] rs68159021
NM_005359.6(SMAD4):c.*5537GC[7] rs68159021
NM_005359.6(SMAD4):c.*5546CA[13] rs56017493
NM_005359.6(SMAD4):c.*5546CA[14] rs56017493
NM_005359.6(SMAD4):c.*5546CA[15] rs56017493
NM_005359.6(SMAD4):c.*5546CA[17] rs56017493
NM_005359.6(SMAD4):c.*5546CA[20] rs56017493
NM_005359.6(SMAD4):c.*5546CA[23] rs56017493
NM_005359.6(SMAD4):c.*5546_*5547insGCAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACACAC rs1555688055
NM_005359.6(SMAD4):c.*5757dup rs886053931
NM_005359.6(SMAD4):c.*6158GATT[1] rs886053936
NM_005359.6(SMAD4):c.-506ACA[1] rs886053885
NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys) rs1555209063
NM_016204.4(GDF2):c.1042C>T (p.Pro348Ser)
NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys) rs1200646207
NM_016204.4(GDF2):c.1084T>C (p.Phe362Leu)
NM_016204.4(GDF2):c.10G>A (p.Gly4Arg) rs2061088172
NM_016204.4(GDF2):c.1162G>A (p.Val388Met) rs2132236835
NM_016204.4(GDF2):c.1172C>T (p.Ala391Val)
NM_016204.4(GDF2):c.121C>G (p.Leu41Val)
NM_016204.4(GDF2):c.1243A>T (p.Lys415Ter) rs2132236938
NM_016204.4(GDF2):c.124G>T (p.Gly42Trp)
NM_016204.4(GDF2):c.134G>A (p.Gly45Glu)
NM_016204.4(GDF2):c.290C>G (p.Thr97Arg)
NM_016204.4(GDF2):c.311C>T (p.Pro104Leu)
NM_016204.4(GDF2):c.314C>T (p.Ala105Val) rs781829279
NM_016204.4(GDF2):c.347-5T>G
NM_016204.4(GDF2):c.348T>C (p.Asp116=) rs2061098325
NM_016204.4(GDF2):c.34C>G (p.Leu12Val)
NM_016204.4(GDF2):c.419C>T (p.Pro140Leu) rs2061098704
NM_016204.4(GDF2):c.41C>T (p.Ser14Phe)
NM_016204.4(GDF2):c.455T>A (p.Leu152His) rs2061098935
NM_016204.4(GDF2):c.464C>T (p.Ser155Phe)
NM_016204.4(GDF2):c.508G>A (p.Val170Met)
NM_016204.4(GDF2):c.521A>T (p.Asp174Val)
NM_016204.4(GDF2):c.631G>A (p.Val211Met)
NM_016204.4(GDF2):c.705_706delinsAA (p.Gly236Ser) rs1555208939
NM_016204.4(GDF2):c.740G>T (p.Gly247Val) rs369219783
NM_016204.4(GDF2):c.833A>C (p.His278Pro)
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.950G>A (p.Arg317Gln)
NM_016204.4(GDF2):c.961G>A (p.Ala321Thr)
NM_016204.4(GDF2):c.967G>A (p.Ala323Thr)
NM_016204.4(GDF2):c.97G>A (p.Ala33Thr)

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