ClinVar Miner

List of variants reported as uncertain significance for capillary malformation-arteriovenous malformation syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 599
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.*476T>G rs543819845 0.00183
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_002890.3(RASA1):c.1935-3T>C rs201249348 0.00039
NM_004444.5(EPHB4):c.1067C>G (p.Thr356Ser) rs192640017 0.00021
NM_002890.3(RASA1):c.*748A>T rs757684576 0.00014
NM_002890.3(RASA1):c.2470A>T (p.Ser824Cys) rs151119180 0.00014
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser) rs775315018 0.00012
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val) rs113316011 0.00011
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_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106 0.00009
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736 0.00009
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_002890.3(RASA1):c.190G>A (p.Gly64Arg) rs777805156 0.00007
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_002890.3(RASA1):c.259A>T (p.Thr87Ser) rs147942393 0.00005
NM_002890.3(RASA1):c.404C>G (p.Pro135Arg) rs770426834 0.00005
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_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_002890.3(RASA1):c.1103T>G (p.Val368Gly) rs1038459573 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_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.203G>C (p.Gly68Ala) rs771016186 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.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
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.(?_86627145)_(86686700_?)dup
NC_000005.9:g.(?_86675532)_(86685364_?)dup
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.1030G>C (p.Asp344His)
NM_002890.3(RASA1):c.1031A>G (p.Asp344Gly)
NM_002890.3(RASA1):c.1038T>G (p.His346Gln)
NM_002890.3(RASA1):c.1049+5G>T rs1580307103
NM_002890.3(RASA1):c.1054T>C (p.Phe352Leu)
NM_002890.3(RASA1):c.1055T>C (p.Phe352Ser) rs2112414697
NM_002890.3(RASA1):c.1087A>G (p.Asn363Asp)
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.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.115C>T (p.Pro39Ser)
NM_002890.3(RASA1):c.116C>T (p.Pro39Leu)
NM_002890.3(RASA1):c.1171C>T (p.Arg391Trp)
NM_002890.3(RASA1):c.118G>A (p.Ala40Thr)
NM_002890.3(RASA1):c.118G>T (p.Ala40Ser)
NM_002890.3(RASA1):c.1192C>G (p.Arg398Gly)
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.1222C>G (p.Gln408Glu)
NM_002890.3(RASA1):c.1228A>G (p.Met410Val)
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.1273C>A (p.His425Asn)
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.1310T>G (p.Leu437Arg)
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.1336C>G (p.Gln446Glu) rs2112456363
NM_002890.3(RASA1):c.1337A>C (p.Gln446Pro)
NM_002890.3(RASA1):c.133G>A (p.Ala45Thr)
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.1366G>A (p.Gly456Ser)
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.1439A>C (p.Tyr480Ser)
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.1476T>G (p.Asn492Lys)
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.1532A>C (p.Lys511Thr)
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.1693G>T (p.Ala565Ser)
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.1730A>G (p.Asn577Ser)
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.1834A>G (p.Thr612Ala) rs1314624861
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.1912T>A (p.Trp638Arg)
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.1932_1933insAGA (p.Phe644_Asp645insArg)
NM_002890.3(RASA1):c.1934+6T>C
NM_002890.3(RASA1):c.1943C>T (p.Pro648Leu) rs1761214742
NM_002890.3(RASA1):c.1945C>G (p.Pro649Ala)
NM_002890.3(RASA1):c.1955A>G (p.Asn652Ser)
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.2006A>G (p.Asp669Gly)
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.2120G>A (p.Arg707His)
NM_002890.3(RASA1):c.2126G>A (p.Arg709Gln)
NM_002890.3(RASA1):c.2134T>C (p.Tyr712His) rs1027956355
NM_002890.3(RASA1):c.2140A>G (p.Met714Val)
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.2170A>G (p.Ser724Gly)
NM_002890.3(RASA1):c.2179A>C (p.Lys727Gln)
NM_002890.3(RASA1):c.2184+5T>A
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.2209G>A (p.Val737Ile)
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.2268_2270del (p.Leu757del)
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.2318T>C (p.Leu773Pro)
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.2383A>G (p.Ser795Gly)
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.2420C>T (p.Thr807Ile)
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.2483G>C (p.Cys828Ser)
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.2553A>G (p.Ile851Met)
NM_002890.3(RASA1):c.256C>G (p.Leu86Val)
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.2645A>G (p.Gln882Arg)
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.2690+5G>A
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.2756C>T (p.Ser919Leu)
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.2828T>G (p.Leu943Arg)
NM_002890.3(RASA1):c.2830G>A (p.Val944Met)
NM_002890.3(RASA1):c.2830G>C (p.Val944Leu)
NM_002890.3(RASA1):c.2842G>T (p.Ala948Ser)
NM_002890.3(RASA1):c.2847+3A>G
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.286G>T (p.Ala96Ser)
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.2885G>C (p.Ser962Thr)
NM_002890.3(RASA1):c.288_308del (p.93AGVAGAA[1])
NM_002890.3(RASA1):c.2897_2899del (p.Arg966_Met967delinsLeu)
NM_002890.3(RASA1):c.2904C>G (p.Ile968Met)
NM_002890.3(RASA1):c.2906T>C (p.Met969Thr)
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.2938C>T (p.Leu980Phe)
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.2962A>G (p.Arg988Gly)
NM_002890.3(RASA1):c.2963G>A (p.Arg988Lys)
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.3067T>A (p.Leu1023Met)
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.3098T>C (p.Leu1033Pro)
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.3122C>T (p.Thr1041Ile)
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.325G>A (p.Gly109Arg)
NM_002890.3(RASA1):c.328C>G (p.Pro110Ala)
NM_002890.3(RASA1):c.331A>G (p.Ser111Gly)
NM_002890.3(RASA1):c.333T>G (p.Ser111Arg)
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.342G>A (p.Met114Ile)
NM_002890.3(RASA1):c.344C>G (p.Ala115Gly) rs576329276
NM_002890.3(RASA1):c.344C>T (p.Ala115Val)
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.37C>G (p.Pro13Ala)
NM_002890.3(RASA1):c.382C>T (p.Leu128Phe)
NM_002890.3(RASA1):c.383T>G (p.Leu128Arg)
NM_002890.3(RASA1):c.386G>C (p.Gly129Ala)
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.41T>G (p.Val14Gly)
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu) rs1753694671
NM_002890.3(RASA1):c.433C>T (p.Pro145Ser)
NM_002890.3(RASA1):c.434C>A (p.Pro145His)
NM_002890.3(RASA1):c.434C>G (p.Pro145Arg)
NM_002890.3(RASA1):c.43A>G (p.Thr15Ala)
NM_002890.3(RASA1):c.442G>A (p.Ala148Thr)
NM_002890.3(RASA1):c.443C>T (p.Ala148Val)
NM_002890.3(RASA1):c.44C>T (p.Thr15Ile) rs899638423
NM_002890.3(RASA1):c.451G>C (p.Gly151Arg)
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.511A>G (p.Ile171Val)
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+298G>A
NM_002890.3(RASA1):c.539+3A>G rs1561245221
NM_002890.3(RASA1):c.539+6T>G
NM_002890.3(RASA1):c.53C>A (p.Ala18Asp)
NM_002890.3(RASA1):c.540-3del
NM_002890.3(RASA1):c.549C>A (p.His183Gln)
NM_002890.3(RASA1):c.557T>C (p.Leu186Pro)
NM_002890.3(RASA1):c.577G>A (p.Glu193Lys)
NM_002890.3(RASA1):c.580C>T (p.Arg194Cys)
NM_002890.3(RASA1):c.581G>A (p.Arg194His)
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.61G>T (p.Gly21Cys)
NM_002890.3(RASA1):c.628G>A (p.Asp210Asn)
NM_002890.3(RASA1):c.631C>G (p.Arg211Gly) rs757065933
NM_002890.3(RASA1):c.632G>A (p.Arg211Gln)
NM_002890.3(RASA1):c.637C>T (p.Pro213Ser) rs2112366190
NM_002890.3(RASA1):c.644C>T (p.Ser215Phe)
NM_002890.3(RASA1):c.647T>G (p.Phe216Cys)
NM_002890.3(RASA1):c.656C>T (p.Ser219Leu) rs1554044823
NM_002890.3(RASA1):c.669G>C (p.Gln223His) rs1252085868
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.701C>G (p.Ala234Gly)
NM_002890.3(RASA1):c.703A>G (p.Met235Val) rs1757677358
NM_002890.3(RASA1):c.74C>T (p.Ala25Val)
NM_002890.3(RASA1):c.753C>G (p.Asp251Glu)
NM_002890.3(RASA1):c.75G>A (p.Ala25=) rs529924262
NM_002890.3(RASA1):c.76G>T (p.Gly26Cys)
NM_002890.3(RASA1):c.776T>C (p.Val259Ala)
NM_002890.3(RASA1):c.77G>T (p.Gly26Val)
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.817G>A (p.Ala273Thr)
NM_002890.3(RASA1):c.828+5G>A rs2112369561
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.871A>G (p.Thr291Ala)
NM_002890.3(RASA1):c.874A>G (p.Lys292Glu)
NM_002890.3(RASA1):c.88T>A (p.Tyr30Asn)
NM_002890.3(RASA1):c.898A>G (p.Ser300Gly)
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.95C>T (p.Ala32Val)
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.1555G>A (p.Gly519Ser)
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.2152G>A (p.Val718Met)
NM_004444.5(EPHB4):c.2164C>T (p.Arg722Trp) rs927472085
NM_004444.5(EPHB4):c.2182A>G (p.Met728Val)
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.2475C>T (p.Ser825=)
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.412G>T (p.Val138Leu)
NM_004444.5(EPHB4):c.560T>C (p.Leu187Pro) rs1584666053
NM_004444.5(EPHB4):c.623C>T (p.Pro208Leu)
NM_004444.5(EPHB4):c.758G>A (p.Cys253Tyr)
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_004444.5(EPHB4):c.814G>T (p.Ala272Ser)
NM_004444.5(EPHB4):c.853T>C (p.Cys285Arg)
NM_004444.5(EPHB4):c.919G>A (p.Gly307Arg)

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