PDGFB platelet derived growth factor subunit B

Canonical transcript: NM_002608

144 unique variant annotations were identified in 124 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
22-39620383-G-A c.*1345C>T - 3-UTRSNV 7/7 - 1
22-39621073-C-T c.*274G>A - 3_prime_UTR_variant 7/7 - 1
22-39621730-A-G c.724T>C p.*242Glnext*89 Missense 6/7 - 1
22-39621744-T-G c.710A>C p.Glu237Ala Missense 6/7 - 1
22-39621752-T-C c.702A>G p.Ala234Ala Synonymous 6/7 - 1
22-39621770-G-C c.684C>G p.His228Gln Missense 6/7 - 1
22-39621770-G-T c.684C>A p.His228Gln Missense 6/7 - 1
22-39621771-TG-AC c.682_683delinsGT p.His228Val Missense 6/7 - 1
22-39621771-TG-GC c.682_683delinsGC p.His228Ala Missense 6/7 - 1
22-39621771-TG-GT c.682_683delinsAC p.His228Thr Missense 6/7 - 1
22-39621772-G-T c.682C>A p.His228Asn Missense 6/7 - 1
22-39621784-G-A c.670C>T p.Arg224Trp Missense 6/7 - 2
22-39621784-G-C c.670C>G p.Arg224Gly Missense 6/7 - 1
22-39621789-T-C c.665A>G p.Lys222Arg Missense 6/7 - 1
22-39621794-C-T c.660G>A p.Lys220Lys Synonymous 6/7 - 1
22-39621796-T-TT c.659dup p.Lys222Glnfs*10 Frameshift 6/7 - 1
22-39621813-C-T c.641G>A p.Arg214Gln Missense 6/7 - 1
22-39621819-G-A c.635C>T p.Thr212Met Missense 6/7 - 5
22-39621819-G-C c.635C>G p.Thr212Arg Missense 6/7 - 3
22-39621853-C-A c.602-1G>T - IntronicSNV - 5/6 2
22-39622560-T-A c.602-708A>T - IntronicSNV - 5/6 4
22-39622560-T-C c.602-708A>G - IntronicSNV - 5/6 4
22-39622711-C-T c.602-859G>A - IntronicSNV - 5/6 1
22-39622940-T-C c.602-1088A>G - IntronicSNV - 5/6 3
22-39623725-C-A c.602-1873G>T - IntronicSNV - 5/6 2
22-39623725-C-G c.602-1873G>C - IntronicSNV - 5/6 2
22-39623725-C-T c.602-1873G>A - IntronicSNV - 5/6 2
22-39624105-T-G c.601+1984A>C - IntronicSNV - 5/6 2
22-39624238-C-T c.601+1851G>A - IntronicSNV - 5/6 1
22-39624248-G-T c.601+1841C>A - IntronicSNV - 5/6 1
22-39625068-G-T c.601+1021C>A - IntronicSNV - 5/6 5
22-39626149-C-T c.541G>A p.Glu181Lys Missense 5/7 - 1
22-39626157-C-T c.533G>A p.Cys178Tyr Missense 5/7 - 1
22-39626175-A-C c.515T>G p.Leu172Arg Missense 5/7 - 1
22-39626209-T-C c.481A>G p.Lys161Glu Missense 5/7 - 1
22-39626213-C-T c.477G>A p.Val159Val Synonymous 5/7 - 1
22-39626234-C-A c.457-1G>T - IntronicSNV - 4/6 1
22-39626375-A-C c.457-142T>G - IntronicSNV - 4/6 1
22-39626375-A-T c.457-142T>A - IntronicSNV - 4/6 1
22-39626823-G-A c.457-590C>T - IntronicSNV - 4/6 1
22-39627626-C-G c.456+1G>C - IntronicSNV - 4/6 1
22-39627626-C-T c.456+1G>A - IntronicSNV - 4/6 2
22-39627627-CCTG-C c.454_456del p.Gln152del InFrameDeletion 4/7 - 1
22-39627630-G-A c.453C>T p.Val151Val Synonymous 4/7 - 1
22-39627630-G-C c.453C>G p.Val151Val Synonymous 4/7 - 2
22-39627630-G-T c.453C>A p.Val151Val Synonymous 4/7 - 1
22-39627638-G-A c.445C>T p.Arg149* Nonsense 4/7 - 6
22-39627644-G-A c.439C>T p.Gln147* Nonsense 4/7 - 4
22-39627650-G-A c.433C>T p.Gln145* Nonsense 4/7 - 4
22-39627658-C-T c.425G>A p.Arg142His Missense 4/7 - 1
22-39627689-C-G c.394G>C p.Gly132Arg Missense 4/7 - 1
22-39627707-C-T c.376G>A p.Glu126Lys Missense 4/7 - 1
22-39627718-G-A c.365C>T p.Pro122Leu Missense 4/7 - 2
22-39627727-A-G c.356T>C p.Leu119Pro Missense 4/7 - 5
22-39627740-T-TC c.342_343insG p.Asn115Glufs*52 Frameshift 4/7 - 1
22-39627742-G-GG c.342dup p.Asn115Glnfs*52 Frameshift 4/7 - 1
22-39627754-A-G c.329T>C p.Leu110Pro Missense 4/7 - 1
22-39627755-G-C c.328C>G p.Leu110Val Missense 4/7 - 1
22-39627761-G-A c.322C>T p.Arg108Trp Missense 4/7 - 1
22-39627775-A-G c.308T>C p.Val103Ala Missense 4/7 - 1
22-39627787-G-A c.296C>T p.Thr99Met Missense 4/7 - 1
22-39627797-C-T c.286G>A p.Glu96Lys Missense 4/7 - 1
22-39627800-C-T c.283G>A p.Ala95Thr Missense 4/7 - 1
22-39627817-GC-TG c.265_266delinsCA p.Ala89His Missense 4/7 - 1
22-39627821-T-C c.262A>G p.Ile88Val Missense 4/7 - 1
22-39629096-C-T c.250+344G>A - IntronicSNV - 3/6 5
22-39629329-C-A c.250+111G>T - IntronicSNV - 3/6 4
22-39629329-C-T c.250+111G>A - IntronicSNV - 3/6 4
22-39629445-C-A c.245G>T p.Ser82Ile Missense 3/7 - 1
22-39629469-T-G c.221A>C p.Glu74Ala Missense 3/7 - 1
22-39629478-C-G c.212G>C p.Gly71Ala Missense 3/7 - 1
22-39629508-T-G c.182A>C p.Asp61Ala Missense 3/7 - 3
22-39629517-GC-TT c.172_173delinsAA p.Ala58Asn Missense 3/7 - 1
22-39629526-T-G c.164A>C p.Glu55Ala Missense 3/7 - 1
22-39629529-T-G c.161A>C p.Glu54Ala Missense 3/7 - 1
22-39629609-G-A c.161-80C>T - IntronicSNV - 2/6 3
22-39630287-A-G c.161-758T>C - IntronicSNV - 2/6 2
22-39631547-T-A c.160+236A>T - IntronicSNV - 2/6 2
22-39631547-T-C c.160+236A>G - IntronicSNV - 2/6 2
22-39631547-T-G c.160+236A>C - IntronicSNV - 2/6 2
22-39631768-G-A c.160+15C>T - IntronicSNV - 2/6 1
22-39631768-G-T c.160+15C>A - IntronicSNV - 2/6 1
22-39631781-A-T c.160+2T>A - IntronicSNV - 2/6 1
22-39631786-C-T c.157G>A p.Gly53Arg Missense 2/7 - 1
22-39631788-GG-AA c.154_155delinsTT p.Pro52Phe Missense 2/7 - 1
22-39631790-G-A c.153C>T p.Asp51Asp Synonymous 2/7 - 1
22-39631794-C-T c.149G>A p.Gly50Glu Missense 2/7 - 1
22-39631797-T-C c.146A>G p.His49Arg Missense 2/7 - 1
22-39631802-CAG-TGT c.139_141delinsACA p.Leu47Thr Missense 2/7 - 1
22-39631806-C-A c.137G>T p.Arg46Leu Missense 2/7 - 1
22-39631806-C-T c.137G>A p.Arg46His Missense 2/7 - 1
22-39631814-A-G c.129T>C p.Asp43Asp Synonymous 2/7 - 1
22-39631820-A-C c.123T>G p.Phe41Leu Missense 2/7 - 1
22-39631820-A-T c.123T>A p.Phe41Leu Missense 2/7 - 1
22-39631822-A-G c.121T>C p.Phe41Leu Missense 2/7 - 1
22-39631824-GA-GT c.118delinsA p.Ser40Thr Missense 2/7 - 1
22-39631832-CGA-ATC c.109_111delinsGAT p.Ser37Asp Missense 2/7 - 1
22-39631837-G-A c.106C>T p.His36Tyr Missense 2/7 - 1
22-39631839-T-G c.104A>C p.Asp35Ala Missense 2/7 - 1
22-39631857-AG-GC c.85_86delinsGC p.Leu29Ala Missense 2/7 - 1
22-39631861-C-T c.82G>A p.Glu28Lys Missense 2/7 - 1
22-39631862-C-T c.81G>A p.Glu27Glu Synonymous 2/7 - 1
22-39631864-C-CA c.78_79insT p.Glu27* Nonsense 2/7 - 1
22-39631875-T-G c.68A>C p.Asp23Ala Missense 2/7 - 1
22-39631876-C-T c.67G>A p.Asp23Asn Missense 2/7 - 1
22-39631882-G-C c.64-3C>G - IntronicSNV - 1/6 2
22-39631963-G-A c.64-84C>T - IntronicSNV - 1/6 2
22-39631963-G-T c.64-84C>A - IntronicSNV - 1/6 2
22-39632523-G-A c.64-644C>T - IntronicSNV - 1/6 3
22-39632920-C-A c.64-1041G>T - IntronicSNV - 1/6 1
22-39632920-C-G c.64-1041G>C - IntronicSNV - 1/6 1
22-39633622-C-T c.64-1743G>A - IntronicSNV - 1/6 7
22-39633749-T-C c.64-1870A>G - IntronicSNV - 1/6 1
22-39634434-A-C c.64-2555T>G - IntronicSNV - 1/6 3
22-39634444-C-A c.64-2565G>T - IntronicSNV - 1/6 2
22-39635867-CACA-CACACACA c.64-3983_64-3980dup - IntronicInsertion - 1/6 1
22-39635869-CA-CACA c.64-3981_64-3980dup - IntronicInsertion - 1/6 1
22-39636586-C-G c.63+3320G>C - IntronicSNV - 1/6 1
22-39636586-C-T c.63+3320G>A - IntronicSNV - 1/6 1
22-39636928-A-G c.63+2978T>C - IntronicSNV - 1/6 2
22-39636930-A-G c.63+2976T>C - IntronicSNV - 1/6 2
22-39639853-G-A c.63+53C>T - IntronicSNV - 1/6 1
22-39639853-G-C c.63+53C>G - IntronicSNV - 1/6 1
22-39639853-G-T c.63+53C>A - IntronicSNV - 1/6 1
22-39639910-G-A c.59C>T p.Ala20Val Missense 1/7 - 1
22-39639912-GCT-GAG c.55_56delinsCT p.Ser19Leu Missense 1/7 - 1
22-39639923-G-T c.46C>A p.Arg16Ser Missense 1/7 - 1
22-39639925-AG-GA c.43_44delinsTC p.Leu15Ser Missense 1/7 - 1
22-39639933-G-A c.36C>T p.Cys12Cys Synonymous 1/7 - 1
22-39639934-C-G c.35G>C p.Cys12Ser Missense 1/7 - 1
22-39639935-A-T c.34T>A p.Cys12Ser Missense 1/7 - 1
22-39639937-AG-GC c.31_32delinsGC p.Leu11Ala Missense 1/7 - 1
22-39639940-AGA-A c.33_34del p.Cys12Leufs*19 Frameshift 1/7 - 1
22-39639940-G-A c.29C>T p.Ser10Phe Missense 1/7 - 1
22-39639940-G-C c.29C>G p.Ser10Cys Missense 1/7 - 3
22-39639941-A-C c.28T>G p.Ser10Ala Missense 1/7 - 10
22-39639943-A-C c.26T>G p.Leu9Arg Missense 1/7 - 5
22-39639960-G-A c.9C>T p.Arg3Arg Synonymous 1/7 - 1
22-39639960-G-C c.9C>G p.Arg3Arg Synonymous 1/7 - 1
22-39639960-G-T c.9C>A p.Arg3Arg Synonymous 1/7 - 1
22-39639964-T-G c.5A>C p.Asn2Thr Missense 1/7 - 1
22-39639966-C-G c.3G>C p.Met1? Missense 1/7 - 2
22-39640703-C-G c.-735G>C - 5-UTRSNV 1/7 - 3
22-39640703-C-T c.-735G>A - 5-UTRSNV 1/7 - 3