ClinVar Miner

List of variants in gene PDGFRB studied for acroosteolysis-keloid-like lesions-premature aging syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 407
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HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.364+44C>T rs740750 0.47472
NM_002609.4(PDGFRB):c.3137+4A>G rs246391 0.38064
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) rs246388 0.36918
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) rs246395 0.26470
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) rs2228440 0.09078
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944 0.07088
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037 0.02595
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) rs56072663 0.02433
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) rs41287110 0.01976
NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=) rs56078873 0.00930
NM_002609.4(PDGFRB):c.102C>T (p.Val34=) rs17708515 0.00869
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439 0.00793
NM_002609.4(PDGFRB):c.365-4G>T rs139448702 0.00583
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val) rs149417689 0.00523
NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His) rs149274963 0.00426
NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=) rs116171826 0.00425
NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys) rs116642123 0.00302
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00287
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 0.00259
NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=) rs56069016 0.00247
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) rs41287108 0.00236
NM_002609.4(PDGFRB):c.1872T>C (p.His624=) rs141371542 0.00166
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln) rs148974733 0.00159
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560 0.00130
NM_002609.4(PDGFRB):c.12G>A (p.Pro4=) rs138641101 0.00128
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=) rs55647240 0.00093
NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=) rs143375423 0.00088
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=) rs41287114 0.00087
NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp) rs142992960 0.00069
NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=) rs148709288 0.00054
NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=) rs144234864 0.00043
NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=) rs139623802 0.00037
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) rs147303614 0.00033
NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=) rs200225593 0.00032
NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=) rs192355633 0.00032
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser) rs199873101 0.00031
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=) rs78336563 0.00029
NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys) rs200203294 0.00024
NM_002609.4(PDGFRB):c.17C>T (p.Ala6Val) rs150173975 0.00023
NM_002609.4(PDGFRB):c.499G>A (p.Val167Ile) rs144857517 0.00020
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=) rs55830572 0.00019
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys) rs148853962 0.00019
NM_002609.4(PDGFRB):c.3276G>A (p.Ser1092=) rs774197688 0.00017
NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys) rs200684708 0.00016
NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=) rs183852315 0.00015
NM_002609.4(PDGFRB):c.2023+5C>T rs369842668 0.00014
NM_002609.4(PDGFRB):c.1368-15C>T rs777941214 0.00013
NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=) rs199649903 0.00013
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) rs141511317 0.00013
NM_002609.4(PDGFRB):c.1114G>A (p.Val372Met) rs371975483 0.00011
NM_002609.4(PDGFRB):c.1520G>A (p.Arg507His) rs145823245 0.00011
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) rs35731372 0.00010
NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His) rs75748462 0.00010
NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=) rs146064275 0.00009
NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=) rs753622898 0.00009
NM_002609.4(PDGFRB):c.2464-3C>T rs571983343 0.00009
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys) rs749932332 0.00009
NM_002609.4(PDGFRB):c.486G>A (p.Glu162=) rs147141808 0.00009
NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys) rs763239423 0.00008
NM_002609.4(PDGFRB):c.42C>T (p.Gly14=) rs145316660 0.00008
NM_002609.4(PDGFRB):c.963G>A (p.Glu321=) rs773441060 0.00007
NM_002609.4(PDGFRB):c.1526C>T (p.Thr509Met) rs766614995 0.00006
NM_002609.4(PDGFRB):c.18G>A (p.Ala6=) rs201570042 0.00006
NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) rs759436020 0.00006
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile) rs200865355 0.00006
NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp) rs371293050 0.00006
NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=) rs371550567 0.00005
NM_002609.4(PDGFRB):c.968G>A (p.Gly323Asp) rs374208706 0.00005
NM_002609.4(PDGFRB):c.1243+18C>T rs199897509 0.00004
NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=) rs186555112 0.00004
NM_002609.4(PDGFRB):c.2268C>T (p.Asp756=) rs56112987 0.00004
NM_002609.4(PDGFRB):c.2365G>T (p.Ala789Ser) rs190620156 0.00004
NM_002609.4(PDGFRB):c.2463+4C>T rs557338313 0.00004
NM_002609.4(PDGFRB):c.2484G>A (p.Ala828=) rs143342011 0.00004
NM_002609.4(PDGFRB):c.2919G>A (p.Val973=) rs370594710 0.00004
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) rs375836509 0.00004
NM_002609.4(PDGFRB):c.3102C>T (p.Asp1034=) rs569140859 0.00004
NM_002609.4(PDGFRB):c.330C>T (p.Thr110=) rs755333624 0.00004
NM_002609.4(PDGFRB):c.331G>A (p.Asp111Asn) rs558122968 0.00004
NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) rs374802057 0.00003
NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=) rs150562879 0.00003
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu) rs147952898 0.00003
NM_002609.4(PDGFRB):c.1971C>T (p.His657=) rs138486655 0.00003
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) rs776113877 0.00003
NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=) rs182175304 0.00003
NM_002609.4(PDGFRB):c.729C>T (p.Val243=) rs758566697 0.00003
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) rs765124485 0.00002
NM_002609.4(PDGFRB):c.168T>A (p.Gly56=) rs532483221 0.00002
NM_002609.4(PDGFRB):c.1810C>T (p.Arg604Cys) rs541926152 0.00002
NM_002609.4(PDGFRB):c.3297G>A (p.Ala1099=) rs376978985 0.00002
NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser) rs574853772 0.00002
NM_002609.4(PDGFRB):c.657C>T (p.Asn219=) rs745467275 0.00002
NM_002609.4(PDGFRB):c.1378G>A (p.Glu460Lys) rs202179598 0.00001
NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala) rs540480924 0.00001
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286 0.00001
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys) rs1483057981 0.00001
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) rs770027941 0.00001
NM_002609.4(PDGFRB):c.1804del (p.Leu602fs) rs771859820 0.00001
NM_002609.4(PDGFRB):c.1853C>T (p.Thr618Met) rs139554380 0.00001
NM_002609.4(PDGFRB):c.1884G>A (p.Thr628=) rs201518972 0.00001
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) rs144050370 0.00001
NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=) rs555800957 0.00001
NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn) rs751904503 0.00001
NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile) rs377442091 0.00001
NM_002609.4(PDGFRB):c.2587-5T>C rs758524703 0.00001
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn) rs750896639 0.00001
NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys) rs747398617 0.00001
NM_002609.4(PDGFRB):c.2954T>C (p.Ile985Thr) rs753367645 0.00001
NM_002609.4(PDGFRB):c.3292C>T (p.Arg1098Trp) rs267600485 0.00001
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met) rs138830253 0.00001
NM_002609.4(PDGFRB):c.438C>A (p.Thr146=) rs764023871 0.00001
NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=) rs756283680 0.00001
NM_002609.4(PDGFRB):c.646G>A (p.Val216Ile) rs370817438 0.00001
NM_002609.4(PDGFRB):c.726G>C (p.Val242=) rs149027530 0.00001
NM_002609.4(PDGFRB):c.783G>A (p.Val261=) rs142649064 0.00001
NM_002609.4(PDGFRB):c.858G>A (p.Ser286=) rs778116813 0.00001
NM_002609.4(PDGFRB):c.875A>G (p.Asn292Ser) rs1175765188 0.00001
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) rs1580808180 0.00001
NM_002609.4(PDGFRB):c.94G>A (p.Gly32Ser) rs761286709 0.00001
NC_000005.9:g.(?_149503793)_(149516630_?)dup
NM_002609.4(PDGFRB):c.1008G>A (p.Leu336=)
NM_002609.4(PDGFRB):c.1034C>T (p.Pro345Leu)
NM_002609.4(PDGFRB):c.1057G>C (p.Asp353His)
NM_002609.4(PDGFRB):c.1063C>T (p.Arg355Cys)
NM_002609.4(PDGFRB):c.1064G>A (p.Arg355His)
NM_002609.4(PDGFRB):c.1075G>A (p.Asp359Asn)
NM_002609.4(PDGFRB):c.1089C>T (p.Gly363=)
NM_002609.4(PDGFRB):c.1095C>T (p.Ile365=)
NM_002609.4(PDGFRB):c.1096G>A (p.Ala366Thr)
NM_002609.4(PDGFRB):c.1106C>T (p.Thr369Met)
NM_002609.4(PDGFRB):c.1109G>A (p.Arg370His)
NM_002609.4(PDGFRB):c.1113C>T (p.Asn371=)
NM_002609.4(PDGFRB):c.1127+17C>G
NM_002609.4(PDGFRB):c.1127+7A>G
NM_002609.4(PDGFRB):c.1127G>A (p.Arg376Gln)
NM_002609.4(PDGFRB):c.1155C>T (p.Arg385=)
NM_002609.4(PDGFRB):c.1156G>C (p.Val386Leu)
NM_002609.4(PDGFRB):c.1176C>T (p.Gly392=)
NM_002609.4(PDGFRB):c.1189C>T (p.Arg397Trp)
NM_002609.4(PDGFRB):c.1190G>A (p.Arg397Gln)
NM_002609.4(PDGFRB):c.11C>T (p.Pro4Leu)
NM_002609.4(PDGFRB):c.1243+11C>T
NM_002609.4(PDGFRB):c.1243+12G>A
NM_002609.4(PDGFRB):c.1243+4A>T rs573720818
NM_002609.4(PDGFRB):c.1244-4G>A rs1580805805
NM_002609.4(PDGFRB):c.1244-5T>C
NM_002609.4(PDGFRB):c.1253G>A (p.Arg418Gln)
NM_002609.4(PDGFRB):c.1278C>A (p.His426Gln)
NM_002609.4(PDGFRB):c.1298C>G (p.Thr433Arg)
NM_002609.4(PDGFRB):c.1302C>G (p.Val434=)
NM_002609.4(PDGFRB):c.1310G>A (p.Arg437His)
NM_002609.4(PDGFRB):c.1314C>A (p.Gly438=)
NM_002609.4(PDGFRB):c.1332G>A (p.Pro444=)
NM_002609.4(PDGFRB):c.1332G>C (p.Pro444=)
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) rs1312583190
NM_002609.4(PDGFRB):c.1360C>T (p.Leu454Phe)
NM_002609.4(PDGFRB):c.1367+20A>G
NM_002609.4(PDGFRB):c.1368-14G>A
NM_002609.4(PDGFRB):c.1385C>T (p.Pro462Leu)
NM_002609.4(PDGFRB):c.1388C>T (p.Pro463Leu)
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)
NM_002609.4(PDGFRB):c.1426C>A (p.Leu476Met)
NM_002609.4(PDGFRB):c.1438G>A (p.Val480Met)
NM_002609.4(PDGFRB):c.1440G>C (p.Val480=)
NM_002609.4(PDGFRB):c.1442C>T (p.Thr481Met)
NM_002609.4(PDGFRB):c.1487G>A (p.Arg496His)
NM_002609.4(PDGFRB):c.1494G>A (p.Gln498=)
NM_002609.4(PDGFRB):c.1497C>T (p.His499=)
NM_002609.4(PDGFRB):c.1527G>A (p.Thr509=)
NM_002609.4(PDGFRB):c.1527G>T (p.Thr509=) rs750725462
NM_002609.4(PDGFRB):c.1531C>T (p.Arg511Cys)
NM_002609.4(PDGFRB):c.1535A>G (p.Asn512Ser)
NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr)
NM_002609.4(PDGFRB):c.1540G>A (p.Val514Met)
NM_002609.4(PDGFRB):c.1553C>T (p.Thr518Met)
NM_002609.4(PDGFRB):c.1554G>A (p.Thr518=)
NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=) rs371192118
NM_002609.4(PDGFRB):c.1563C>T (p.Val521=) rs1580804718
NM_002609.4(PDGFRB):c.1566C>T (p.Ile522=)
NM_002609.4(PDGFRB):c.1567G>A (p.Val523Met)
NM_002609.4(PDGFRB):c.1576C>T (p.His526Tyr)
NM_002609.4(PDGFRB):c.1579+10C>T rs571420039
NM_002609.4(PDGFRB):c.1580-8G>A
NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp) rs1760301176
NM_002609.4(PDGFRB):c.1629G>A (p.Val543=)
NM_002609.4(PDGFRB):c.1630C>T (p.Leu544Phe) rs2113898287
NM_002609.4(PDGFRB):c.1636A>G (p.Ile546Val)
NM_002609.4(PDGFRB):c.165G>T (p.Ser55=)
NM_002609.4(PDGFRB):c.1660A>G (p.Met554Val)
NM_002609.4(PDGFRB):c.1663C>G (p.Leu555Val)
NM_002609.4(PDGFRB):c.1674+9C>G rs1231443369
NM_002609.4(PDGFRB):c.1675-14G>T
NM_002609.4(PDGFRB):c.1675-17T>G
NM_002609.4(PDGFRB):c.1675-4C>T
NM_002609.4(PDGFRB):c.1679C>T (p.Pro560Leu)
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002609.4(PDGFRB):c.1714G>A (p.Val572Met) rs2113897117
NM_002609.4(PDGFRB):c.1726G>A (p.Gly576Ser)
NM_002609.4(PDGFRB):c.1734G>A (p.Glu578=) rs2113897064
NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser)
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys) rs1760269359
NM_002609.4(PDGFRB):c.176C>G (p.Pro59Arg)
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu) rs202213873
NM_002609.4(PDGFRB):c.1775C>A (p.Thr592Lys)
NM_002609.4(PDGFRB):c.1775C>T (p.Thr592Met)
NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=) rs367951719
NM_002609.4(PDGFRB):c.1776G>T (p.Thr592=)
NM_002609.4(PDGFRB):c.177G>A (p.Pro59=)
NM_002609.4(PDGFRB):c.1788G>A (p.Pro596=)
NM_002609.4(PDGFRB):c.1788G>T (p.Pro596=)
NM_002609.4(PDGFRB):c.17C>G (p.Ala6Gly)
NM_002609.4(PDGFRB):c.1842G>A (p.Val614=)
NM_002609.4(PDGFRB):c.1856C>T (p.Ala619Val)
NM_002609.4(PDGFRB):c.1870C>T (p.His624Tyr)
NM_002609.4(PDGFRB):c.1883C>T (p.Thr628Met)
NM_002609.4(PDGFRB):c.1896C>T (p.Ala632=)
NM_002609.4(PDGFRB):c.1913-10T>A
NM_002609.4(PDGFRB):c.1913-16C>G
NM_002609.4(PDGFRB):c.191G>A (p.Arg64Gln)
NM_002609.4(PDGFRB):c.1938A>G (p.Gln646=)
NM_002609.4(PDGFRB):c.1950G>A (p.Ser650=)
NM_002609.4(PDGFRB):c.1958A>G (p.Lys653Arg)
NM_002609.4(PDGFRB):c.1989C>T (p.Asn663=)
NM_002609.4(PDGFRB):c.1994T>C (p.Val665Ala) rs1554108211
NM_002609.4(PDGFRB):c.1996A>C (p.Asn666His) rs797044887
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser) rs2113894766
NM_002609.4(PDGFRB):c.2023+16C>T
NM_002609.4(PDGFRB):c.2023+6G>A
NM_002609.4(PDGFRB):c.2054G>A (p.Arg685His)
NM_002609.4(PDGFRB):c.2062G>C (p.Asp688His)
NM_002609.4(PDGFRB):c.2070G>A (p.Val690=)
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) rs138008832
NM_002609.4(PDGFRB):c.2084G>A (p.Arg695His)
NM_002609.4(PDGFRB):c.2091A>G (p.Lys697=)
NM_002609.4(PDGFRB):c.2094dup (p.Thr699fs)
NM_002609.4(PDGFRB):c.2115C>T (p.Ser705=)
NM_002609.4(PDGFRB):c.2116G>T (p.Asp706Tyr) rs770635073
NM_002609.4(PDGFRB):c.2122C>T (p.Arg708Cys)
NM_002609.4(PDGFRB):c.2123G>A (p.Arg708His)
NM_002609.4(PDGFRB):c.2129C>T (p.Pro710Leu)
NM_002609.4(PDGFRB):c.2163C>T (p.Pro721=)
NM_002609.4(PDGFRB):c.2164G>A (p.Val722Ile)
NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe) rs142689325
NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=) rs961398213
NM_002609.4(PDGFRB):c.2183+18A>G
NM_002609.4(PDGFRB):c.2183+19G>A
NM_002609.4(PDGFRB):c.2184-7C>T
NM_002609.4(PDGFRB):c.2191T>G (p.Ser731Ala)
NM_002609.4(PDGFRB):c.2200G>A (p.Gly734Arg)
NM_002609.4(PDGFRB):c.2208C>T (p.Ser736=)
NM_002609.4(PDGFRB):c.2212G>A (p.Gly738Ser)
NM_002609.4(PDGFRB):c.2235G>C (p.Lys745Asn) rs1760151971
NM_002609.4(PDGFRB):c.2243C>T (p.Ser748Leu)
NM_002609.4(PDGFRB):c.225G>A (p.Lys75=)
NM_002609.4(PDGFRB):c.2270T>C (p.Met757Thr)
NM_002609.4(PDGFRB):c.2276G>A (p.Gly759Glu)
NM_002609.4(PDGFRB):c.2280C>T (p.Asp760=)
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
NM_002609.4(PDGFRB):c.2281G>C (p.Val761Leu)
NM_002609.4(PDGFRB):c.2298C>T (p.Ile766=)
NM_002609.4(PDGFRB):c.2299G>A (p.Glu767Lys)
NM_002609.4(PDGFRB):c.2328T>A (p.Asp776Glu)
NM_002609.4(PDGFRB):c.2334C>T (p.Tyr778=)
NM_002609.4(PDGFRB):c.2345-18C>T
NM_002609.4(PDGFRB):c.2357C>T (p.Thr786Ile)
NM_002609.4(PDGFRB):c.2360G>A (p.Cys787Tyr) rs2113890060
NM_002609.4(PDGFRB):c.2380G>A (p.Glu794Lys)
NM_002609.4(PDGFRB):c.2386C>T (p.Pro796Ser)
NM_002609.4(PDGFRB):c.2394A>C (p.Leu798=)
NM_002609.4(PDGFRB):c.2409C>T (p.Leu803=)
NM_002609.4(PDGFRB):c.2414G>T (p.Gly805Val)
NM_002609.4(PDGFRB):c.2464-19C>G
NM_002609.4(PDGFRB):c.2483C>A (p.Ala828Glu)
NM_002609.4(PDGFRB):c.2483C>T (p.Ala828Val)
NM_002609.4(PDGFRB):c.2499C>A (p.Leu833=)
NM_002609.4(PDGFRB):c.250G>A (p.Val84Met)
NM_002609.4(PDGFRB):c.2557C>A (p.Arg853=)
NM_002609.4(PDGFRB):c.2559G>A (p.Arg853=)
NM_002609.4(PDGFRB):c.2586+13C>T
NM_002609.4(PDGFRB):c.2586+20C>A
NM_002609.4(PDGFRB):c.2586+20C>G
NM_002609.4(PDGFRB):c.2586C>T (p.Ser862=)
NM_002609.4(PDGFRB):c.259C>T (p.Leu87=)
NM_002609.4(PDGFRB):c.2631C>A (p.Asn877Lys)
NM_002609.4(PDGFRB):c.2635C>A (p.Leu879Ile)
NM_002609.4(PDGFRB):c.2643C>G (p.Thr881=)
NM_002609.4(PDGFRB):c.2653G>A (p.Asp885Asn)
NM_002609.4(PDGFRB):c.2667C>T (p.Phe889=)
NM_002609.4(PDGFRB):c.2668G>C (p.Gly890Arg)
NM_002609.4(PDGFRB):c.2698+1G>T
NM_002609.4(PDGFRB):c.2714C>T (p.Pro905Leu)
NM_002609.4(PDGFRB):c.2741A>G (p.Tyr914Cys)
NM_002609.4(PDGFRB):c.2756G>A (p.Arg919Gln)
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)
NM_002609.4(PDGFRB):c.2797A>T (p.Ile933Phe)
NM_002609.4(PDGFRB):c.2798+10G>A
NM_002609.4(PDGFRB):c.2798+19A>G
NM_002609.4(PDGFRB):c.2798+1G>A
NM_002609.4(PDGFRB):c.2799-12C>T
NM_002609.4(PDGFRB):c.2811G>A (p.Met937Ile)
NM_002609.4(PDGFRB):c.2855C>G (p.Ser952Cys)
NM_002609.4(PDGFRB):c.285G>A (p.Thr95=)
NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val) rs1321037719
NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=) rs773161073
NM_002609.4(PDGFRB):c.2904+15G>A
NM_002609.4(PDGFRB):c.2904+17T>A
NM_002609.4(PDGFRB):c.2905-19C>G
NM_002609.4(PDGFRB):c.2905-1G>T
NM_002609.4(PDGFRB):c.2905-8G>A rs201866603
NM_002609.4(PDGFRB):c.2905-8G>C
NM_002609.4(PDGFRB):c.2909A>C (p.Tyr970Ser)
NM_002609.4(PDGFRB):c.2925G>A (p.Glu975=)
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) rs1561984983
NM_002609.4(PDGFRB):c.2970C>T (p.Ala990=)
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
NM_002609.4(PDGFRB):c.2976G>A (p.Leu992=)
NM_002609.4(PDGFRB):c.3018C>T (p.Ser1006=)
NM_002609.4(PDGFRB):c.3026A>G (p.Tyr1009Cys)
NM_002609.4(PDGFRB):c.3029C>T (p.Thr1010Ile)
NM_002609.4(PDGFRB):c.3057C>T (p.Asn1019=)
NM_002609.4(PDGFRB):c.3058G>A (p.Asp1020Asn)
NM_002609.4(PDGFRB):c.3069C>T (p.Ile1023=) rs2113883671
NM_002609.4(PDGFRB):c.3126C>A (p.Pro1042=)
NM_002609.4(PDGFRB):c.312C>T (p.Asp104=)
NM_002609.4(PDGFRB):c.3137+13G>T rs2113883431
NM_002609.4(PDGFRB):c.3137+15C>T
NM_002609.4(PDGFRB):c.3138-11C>G
NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro)
NM_002609.4(PDGFRB):c.3145C>T (p.Leu1049=)
NM_002609.4(PDGFRB):c.3165C>T (p.Ser1055=)
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)
NM_002609.4(PDGFRB):c.3187C>A (p.Pro1063Thr)
NM_002609.4(PDGFRB):c.3205G>A (p.Glu1069Lys)
NM_002609.4(PDGFRB):c.3256_3257insCGGAGC (p.Glu1085_Leu1086insProGlu)
NM_002609.4(PDGFRB):c.3274T>A (p.Ser1092Thr)
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
NM_002609.4(PDGFRB):c.3279G>T (p.Gly1093=)
NM_002609.4(PDGFRB):c.3288G>A (p.Ala1096=)
NM_002609.4(PDGFRB):c.3296C>T (p.Ala1099Val)
NM_002609.4(PDGFRB):c.337C>T (p.Arg113Trp)
NM_002609.4(PDGFRB):c.338G>A (p.Arg113Gln)
NM_002609.4(PDGFRB):c.342A>C (p.Lys114Asn)
NM_002609.4(PDGFRB):c.344G>A (p.Arg115Gln)
NM_002609.4(PDGFRB):c.351C>T (p.Tyr117=)
NM_002609.4(PDGFRB):c.360G>T (p.Val120=)
NM_002609.4(PDGFRB):c.364+15C>G
NM_002609.4(PDGFRB):c.364+16C>G
NM_002609.4(PDGFRB):c.365-13C>T
NM_002609.4(PDGFRB):c.365-18C>T
NM_002609.4(PDGFRB):c.365-5G>C
NM_002609.4(PDGFRB):c.370A>G (p.Thr124Ala)
NM_002609.4(PDGFRB):c.373G>A (p.Val125Met)
NM_002609.4(PDGFRB):c.377G>C (p.Gly126Ala)
NM_002609.4(PDGFRB):c.390T>C (p.Asn130=)
NM_002609.4(PDGFRB):c.396C>T (p.Ala132=) rs751600349
NM_002609.4(PDGFRB):c.40+16A>G
NM_002609.4(PDGFRB):c.40+19_40+23del
NM_002609.4(PDGFRB):c.449G>A (p.Arg150Gln)
NM_002609.4(PDGFRB):c.460C>T (p.Pro154Ser)
NM_002609.4(PDGFRB):c.461C>G (p.Pro154Arg)
NM_002609.4(PDGFRB):c.462A>G (p.Pro154=)
NM_002609.4(PDGFRB):c.468G>A (p.Leu156=)
NM_002609.4(PDGFRB):c.483C>T (p.His161=)
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) rs1562011077
NM_002609.4(PDGFRB):c.48G>A (p.Leu16=)
NM_002609.4(PDGFRB):c.4C>T (p.Arg2Trp)
NM_002609.4(PDGFRB):c.511G>T (p.Val171Phe)
NM_002609.4(PDGFRB):c.529C>T (p.Arg177Cys)
NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala)
NM_002609.4(PDGFRB):c.575C>G (p.Thr192Ser)
NM_002609.4(PDGFRB):c.575C>T (p.Thr192Ile)
NM_002609.4(PDGFRB):c.576C>G (p.Thr192=)
NM_002609.4(PDGFRB):c.5G>A (p.Arg2Gln)
NM_002609.4(PDGFRB):c.624A>C (p.Arg208Ser)
NM_002609.4(PDGFRB):c.631+1G>A rs111491260
NM_002609.4(PDGFRB):c.631+9C>T
NM_002609.4(PDGFRB):c.645C>T (p.Asn215=)
NM_002609.4(PDGFRB):c.646G>C (p.Val216Leu)
NM_002609.4(PDGFRB):c.700A>G (p.Met234Val)
NM_002609.4(PDGFRB):c.735C>T (p.Phe245=) rs765554311
NM_002609.4(PDGFRB):c.745T>C (p.Tyr249His)
NM_002609.4(PDGFRB):c.760-10G>T
NM_002609.4(PDGFRB):c.779C>T (p.Pro260Leu)
NM_002609.4(PDGFRB):c.805C>G (p.Pro269Ala)
NM_002609.4(PDGFRB):c.817C>T (p.Arg273Cys)
NM_002609.4(PDGFRB):c.843C>T (p.Ala281=)
NM_002609.4(PDGFRB):c.844G>A (p.Glu282Lys)
NM_002609.4(PDGFRB):c.882G>A (p.Thr294=)
NM_002609.4(PDGFRB):c.882G>T (p.Thr294=)
NM_002609.4(PDGFRB):c.91C>A (p.Gln31Lys)
NM_002609.4(PDGFRB):c.921C>T (p.Asn307=)
NM_002609.4(PDGFRB):c.924C>T (p.Ile308=)
NM_002609.4(PDGFRB):c.927C>T (p.Thr309=)
NM_002609.4(PDGFRB):c.934+17C>T
NM_002609.4(PDGFRB):c.935-15G>A
NM_002609.4(PDGFRB):c.935-5T>C
NM_002609.4(PDGFRB):c.935-9C>T
NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn)
NM_002609.4(PDGFRB):c.949C>A (p.Arg317=)
NM_002609.4(PDGFRB):c.949C>T (p.Arg317Trp)
NM_002609.4(PDGFRB):c.950G>A (p.Arg317Gln)
NM_002609.4(PDGFRB):c.971C>T (p.Thr324Ile)
NM_002609.4(PDGFRB):c.972A>G (p.Thr324=)
NM_002609.4(PDGFRB):c.991C>T (p.His331Tyr)
NM_002609.4(PDGFRB):c.994C>T (p.Arg332Trp)
NM_002609.4(PDGFRB):c.995G>A (p.Arg332Gln)

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