VEGFA vascular endothelial growth factor A

Canonical transcript: NM_001025366

481 unique variant annotations were identified in 1117 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-43738350-C-G c.-94C>G - 5-UTRSNV 1/8 - 418
6-43738374-G-A c.-70G>A - 5-UTRSNV 1/8 - 1
6-43738449-G-A c.6G>A p.Thr2Thr Synonymous 1/8 - 11
6-43738449-G-C c.6G>C p.Thr2Thr Synonymous 1/8 - 11
6-43738449-G-T c.6G>T p.Thr2Thr Synonymous 1/8 - 11
6-43738452-C-T c.9C>T p.Asp3Asp Synonymous 1/8 - 5
6-43738453-A-C c.10A>C p.Arg4Arg Synonymous 1/8 - 2
6-43738455-A-G c.12A>G p.Arg4Arg Synonymous 1/8 - 2
6-43738458-G-A c.15G>A p.Gln5Gln Synonymous 1/8 - 1
6-43738462-G-C c.19G>C p.Asp7His Missense 1/8 - 1
6-43738464-C-T c.21C>T p.Asp7Asp Synonymous 1/8 - 3
6-43738467-C-A c.24C>A p.Thr8Thr Synonymous 1/8 - 2
6-43738467-C-G c.24C>G p.Thr8Thr Synonymous 1/8 - 2
6-43738467-C-T c.24C>T p.Thr8Thr Synonymous 1/8 - 2
6-43738469-C-T c.26C>T p.Ala9Val Missense 1/8 - 1
6-43738470-C-A c.27C>A p.Ala9Ala Synonymous 1/8 - 2
6-43738470-C-G c.27C>G p.Ala9Ala Synonymous 1/8 - 2
6-43738470-C-T c.27C>T p.Ala9Ala Synonymous 1/8 - 2
6-43738471-CC-GA c.28_29delinsGA p.Pro10Asp Missense 1/8 - 1
6-43738471-CC-TT c.28_29delinsTT p.Pro10Phe Missense 1/8 - 1
6-43738471-C-G c.28C>G p.Pro10Ala Missense 1/8 - 2
6-43738471-C-T c.28C>T p.Pro10Ser Missense 1/8 - 1
6-43738472-C-G c.29C>G p.Pro10Arg Missense 1/8 - 1
6-43738472-C-T c.29C>T p.Pro10Leu Missense 1/8 - 1
6-43738474-A-G c.31A>G p.Ser11Gly Missense 1/8 - 5
6-43738474-AG-CA c.31_32delinsCA p.Ser11His Missense 1/8 - 4
6-43738474-AGC-GAG c.31_33delinsGAG p.Ser11Glu Missense 1/8 - 17
6-43738474-AG-CT c.31_32inv p.Ser11Leu Missense 1/8 - 1
6-43738474-AG-GA c.31_32delinsGA p.Ser11Asp Missense 1/8 - 27
6-43738474-AG-GC c.31_32delinsGC p.Ser11Ala Missense 1/8 - 96
6-43738474-AG-TT c.31_32delinsTT p.Ser11Phe Missense 1/8 - 12
6-43738474-A-T c.31A>T p.Ser11Cys Missense 1/8 - 41
6-43738475-G-C c.32G>C p.Ser11Thr Missense 1/8 - 1
6-43738475-GC-AG c.32_33delinsAG p.Ser11Lys Missense 1/8 - 1
6-43738475-G-T c.32G>T p.Ser11Ile Missense 1/8 - 4
6-43738477-CCC-TGG c.34_36delinsTGG p.Pro12Trp Missense 1/8 - 2
6-43738477-CC-TG c.34_35delinsTG p.Pro12Cys Missense 1/8 - 1
6-43738477-CC-TT c.34_35delinsTT p.Pro12Phe Missense 1/8 - 1
6-43738477-C-G c.34C>G p.Pro12Ala Missense 1/8 - 24
6-43738477-C-T c.34C>T p.Pro12Ser Missense 1/8 - 1
6-43738478-C-A c.35C>A p.Pro12His Missense 1/8 - 2
6-43738478-C-G c.35C>G p.Pro12Arg Missense 1/8 - 1
6-43738478-C-T c.35C>T p.Pro12Leu Missense 1/8 - 1
6-43738480-AG-CC c.37_38delinsCC p.Ser13Pro Missense 1/8 - 1
6-43738480-AGC-GAG c.37_39delinsGAG p.Ser13Glu Missense 1/8 - 6
6-43738480-AG-GA c.37_38delinsGA p.Ser13Asp Missense 1/8 - 3
6-43738480-AG-GC c.37_38delinsGC p.Ser13Ala Missense 1/8 - 34
6-43738480-A-T c.37A>T p.Ser13Cys Missense 1/8 - 10
6-43738483-TA-GC c.40_41delinsGC p.Tyr14Ala Missense 1/8 - 2
6-43738483-T-G c.40T>G p.Tyr14Asp Missense 1/8 - 3
6-43738484-A-T c.41A>T p.Tyr14Phe Missense 1/8 - 2
6-43738485-C-A c.42C>A p.Tyr14* Nonsense 1/8 - 1
6-43738485-C-G c.42C>G p.Tyr14* Nonsense 1/8 - 1
6-43738486-CAC-ATG c.43_45delinsATG p.His15Met Missense 1/8 - 1
6-43738486-CA-GC c.43_44delinsGC p.His15Ala Missense 1/8 - 1
6-43738489-CT-GC c.46_47delinsGC p.Leu16Ala Missense 1/8 - 1
6-43738492-CTC-GAG c.49_51inv p.Leu17Glu Missense 1/8 - 1
6-43738497-C-A c.54C>A p.Pro18Pro Synonymous 1/8 - 1
6-43738497-C-G c.54C>G p.Pro18Pro Synonymous 1/8 - 1
6-43738497-C-T c.54C>T p.Pro18Pro Synonymous 1/8 - 1
6-43738499-G-C c.56G>C p.Gly19Ala Missense 1/8 - 1
6-43738504-C-G c.61C>G p.Arg21Gly Missense 1/8 - 1
6-43738504-CGG-ATC c.61_63delinsATC p.Arg21Ile Missense 1/8 - 1
6-43738504-CGG-TGT c.61_63delinsTGT p.Arg21Cys Missense 1/8 - 2
6-43738507-CGG-ATC c.64_66delinsATC p.Arg22Ile Missense 1/8 - 1
6-43738507-CG-GC c.64_65delinsGC p.Arg22Ala Missense 1/8 - 2
6-43738507-CG-TA c.64_65delinsTA p.Arg22* Nonsense 1/8 - 1
6-43738508-G-A c.65G>A p.Arg22Gln Missense 1/8 - 1
6-43738508-G-T c.65G>T p.Arg22Leu Missense 1/8 - 1
6-43738511-CA-AC c.68_69delinsAC p.Thr23Asn Missense 1/8 - 1
6-43738513-GT-CC c.70_71delinsCC p.Val24Pro Missense 1/8 - 1
6-43738513-GTG-TGT c.70_72delinsTGT p.Val24Cys Missense 1/8 - 2
6-43738514-T-A c.71T>A p.Val24Glu Missense 1/8 - 1
6-43738518-C-T c.75C>T p.Asp25Asp Synonymous 1/8 - 2
6-43738519-GCG-ATC c.76_78delinsATC p.Ala26Ile Missense 1/8 - 1
6-43738519-GCG-CAT c.76_78delinsCAT p.Ala26His Missense 1/8 - 1
6-43738519-GCG-TTT c.76_78delinsTTT p.Ala26Phe Missense 1/8 - 2
6-43738520-C-A c.77C>A p.Ala26Glu Missense 1/8 - 2
6-43738520-C-G c.77C>G p.Ala26Gly Missense 1/8 - 1
6-43738520-CG-AC c.77_78delinsAC p.Ala26Asp Missense 1/8 - 1
6-43738520-C-T c.77C>T p.Ala26Val Missense 1/8 - 1
6-43738522-GC-CT c.79_80delinsCT p.Ala27Leu Missense 1/8 - 4
6-43738522-GCG-TTT c.79_81delinsTTT p.Ala27Phe Missense 1/8 - 1
6-43738524-G-A c.81G>A p.Ala27Ala Synonymous 1/8 - 1
6-43738524-G-C c.81G>C p.Ala27Ala Synonymous 1/8 - 1
6-43738524-G-T c.81G>T p.Ala27Ala Synonymous 1/8 - 1
6-43738525-GC-CA c.82_83delinsCA p.Ala28Gln Missense 1/8 - 1
6-43738525-GCG-TGT c.82_84delinsTGT p.Ala28Cys Missense 1/8 - 1
6-43738525-GCG-TTT c.82_84delinsTTT p.Ala28Phe Missense 1/8 - 3
6-43738526-C-A c.83C>A p.Ala28Glu Missense 1/8 - 1
6-43738526-C-G c.83C>G p.Ala28Gly Missense 1/8 - 1
6-43738526-CG-AC c.83_84delinsAC p.Ala28Asp Missense 1/8 - 1
6-43738526-C-T c.83C>T p.Ala28Val Missense 1/8 - 1
6-43738528-AG-GA c.85_86delinsGA p.Ser29Asp Missense 1/8 - 1
6-43738531-CG-GC c.88_89delinsGC p.Arg30Ala Missense 1/8 - 4
6-43738531-C-T c.88C>T p.Arg30Cys Missense 1/8 - 1
6-43738532-GC-AA c.89_90delinsAA p.Arg30Gln Missense 1/8 - 1
6-43738534-GG-CC c.91_92inv p.Gly31Pro Missense 1/8 - 4
6-43738544-C-G c.101C>G p.Pro34Arg Missense 1/8 - 1
6-43738546-GAG-CAT c.103_105delinsCAT p.Glu35His Missense 1/8 - 1
6-43738548-G-C c.105G>C p.Glu35Asp Missense 1/8 - 1
6-43738548-G-T c.105G>T p.Glu35Asp Missense 1/8 - 1
6-43738549-CCC-AAG c.106_108delinsAAG p.Pro36Lys Missense 1/8 - 1
6-43738552-GCG-TGT c.109_111delinsTGT p.Ala37Cys Missense 1/8 - 1
6-43738553-CG-AC c.110_111delinsAC p.Ala37Asp Missense 1/8 - 1
6-43738554-G-A c.111G>A p.Ala37Ala Synonymous 1/8 - 1
6-43738554-G-C c.111G>C p.Ala37Ala Synonymous 1/8 - 1
6-43738554-G-T c.111G>T p.Ala37Ala Synonymous 1/8 - 1
6-43738555-CC-AT c.112_113delinsAT p.Pro38Ile Missense 1/8 - 16
6-43738555-CCC-AAG c.112_114delinsAAG p.Pro38Lys Missense 1/8 - 8
6-43738555-CCC-TAA c.112_114delinsTAA p.Pro38* Nonsense 1/8 - 1
6-43738555-CC-GA c.112_113delinsGA p.Pro38Asp Missense 1/8 - 5
6-43738555-CC-GG c.112_113inv p.Pro38Gly Missense 1/8 - 3
6-43738555-CC-TG c.112_113delinsTG p.Pro38Cys Missense 1/8 - 7
6-43738555-C-G c.112C>G p.Pro38Ala Missense 1/8 - 39
6-43738555-C-T c.112C>T p.Pro38Ser Missense 1/8 - 5
6-43738557-C-A c.114C>A p.Pro38Pro Synonymous 1/8 - 1
6-43738557-C-G c.114C>G p.Pro38Pro Synonymous 1/8 - 1
6-43738557-C-T c.114C>T p.Pro38Pro Synonymous 1/8 - 1
6-43738558-G-T c.115G>T p.Gly39* Nonsense 1/8 - 1
6-43738559-G-C c.116G>C p.Gly39Ala Missense 1/8 - 1
6-43738564-G-A c.121G>A p.Gly41Arg Missense 1/8 - 1
6-43738564-G-C c.121G>C p.Gly41Arg Missense 1/8 - 1
6-43738565-G-C c.122G>C p.Gly41Ala Missense 1/8 - 1
6-43738570-G-A c.127G>A p.Glu43Lys Missense 1/8 - 1
6-43738570-GAG-AAC c.127_129delinsAAC p.Glu43Asn Missense 1/8 - 1
6-43738570-GA-TC c.127_128inv p.Glu43Ser Missense 1/8 - 1
6-43738574-G-A c.131G>A p.Gly44Glu Missense 1/8 - 1
6-43738576-GTC-AAG c.133_135delinsAAG p.Val45Lys Missense 1/8 - 1
6-43738582-GC-TT c.139_140delinsTT p.Ala47Phe Missense 1/8 - 2
6-43738583-C-A c.140C>A p.Ala47Asp Missense 1/8 - 1
6-43738583-C-G c.140C>G p.Ala47Gly Missense 1/8 - 1
6-43738585-CG-GA c.142_143delinsGA p.Arg48Asp Missense 1/8 - 1
6-43738585-CG-GC c.142_143delinsGC p.Arg48Ala Missense 1/8 - 1
6-43738586-G-A c.143G>A p.Arg48His Missense 1/8 - 1
6-43738589-G-C c.146G>C p.Gly49Ala Missense 1/8 - 1
6-43738594-G-A c.151G>A p.Ala51Thr Missense 1/8 - 1
6-43738594-GC-AG c.151_152delinsAG p.Ala51Arg Missense 1/8 - 1
6-43738594-GCA-TTT c.151_153delinsTTT p.Ala51Phe Missense 1/8 - 1
6-43738595-C-A c.152C>A p.Ala51Glu Missense 1/8 - 1
6-43738596-A-C c.153A>C p.Ala51Ala Synonymous 1/8 - 2
6-43738596-A-G c.153A>G p.Ala51Ala Synonymous 1/8 - 2
6-43738596-A-T c.153A>T p.Ala51Ala Synonymous 1/8 - 2
6-43738601-AA-TG c.158_159delinsTG p.Lys53Met Missense 1/8 - 1
6-43738603-C-T c.160C>T p.Leu54Phe Missense 1/8 - 1
6-43738603-CTT-ATG c.160_162delinsATG p.Leu54Met Missense 1/8 - 1
6-43738607-T-C c.164T>C p.Phe55Ser Missense 1/8 - 1
6-43738613-A-G c.170A>G p.Gln57Arg Missense 1/8 - 1
6-43738614-A-C c.171A>C p.Gln57His Missense 1/8 - 2
6-43738614-A-T c.171A>T p.Gln57His Missense 1/8 - 2
6-43738616-T-C c.173T>C p.Leu58Pro Missense 1/8 - 1
6-43738619-T-C c.176T>C p.Leu59Pro Missense 1/8 - 1
6-43738621-G-A c.178G>A p.Gly60Ser Missense 1/8 - 1
6-43738624-T-A c.181T>A p.Cys61Ser Missense 1/8 - 1
6-43738624-T-G c.181T>G p.Cys61Gly Missense 1/8 - 1
6-43738624-TG-GC c.181_182delinsGC p.Cys61Ala Missense 1/8 - 2
6-43738625-G-C c.182G>C p.Cys61Ser Missense 1/8 - 1
6-43738627-T-G c.184T>G p.Ser62Ala Missense 1/8 - 1
6-43738630-CG-GC c.187_188delinsGC p.Arg63Ala Missense 1/8 - 1
6-43738633-T-C c.190T>C p.Phe64Leu Missense 1/8 - 3
6-43738633-TT-GA c.190_191delinsGA p.Phe64Asp Missense 1/8 - 2
6-43738634-T-G c.191T>G p.Phe64Cys Missense 1/8 - 1
6-43738636-GGA-AGC c.193_195delinsAGC p.Gly65Ser Missense 1/8 - 1
6-43738640-GA-AC c.197_198delinsAC p.Gly66Asp Missense 1/8 - 1
6-43738642-GC-TG c.199_200delinsTG p.Ala67Cys Missense 1/8 - 1
6-43738642-GC-TT c.199_200delinsTT p.Ala67Phe Missense 1/8 - 1
6-43738643-C-A c.200C>A p.Ala67Asp Missense 1/8 - 2
6-43738654-GCG-TGT c.211_213delinsTGT p.Ala71Cys Missense 1/8 - 1
6-43738654-GCG-TTT c.211_213delinsTTT p.Ala71Phe Missense 1/8 - 1
6-43738655-CG-AC c.212_213delinsAC p.Ala71Asp Missense 1/8 - 4
6-43738656-G-A c.213G>A p.Ala71Ala Synonymous 1/8 - 1
6-43738656-G-C c.213G>C p.Ala71Ala Synonymous 1/8 - 1
6-43738656-G-T c.213G>T p.Ala71Ala Synonymous 1/8 - 1
6-43738662-A-C c.219A>C p.Glu73Asp Missense 1/8 - 1
6-43738662-A-T c.219A>T p.Glu73Asp Missense 1/8 - 1
6-43738663-GC-TG c.220_221delinsTG p.Ala74Cys Missense 1/8 - 1
6-43738665-C-A c.222C>A p.Ala74Ala Synonymous 1/8 - 1
6-43738665-C-G c.222C>G p.Ala74Ala Synonymous 1/8 - 1
6-43738665-C-T c.222C>T p.Ala74Ala Synonymous 1/8 - 1
6-43738672-AG-GC c.229_230delinsGC p.Ser77Ala Missense 1/8 - 3
6-43738679-C-A c.236C>A p.Ala79Asp Missense 1/8 - 2
6-43738679-C-G c.236C>G p.Ala79Gly Missense 1/8 - 1
6-43738680-C-A c.237C>A p.Ala79Ala Synonymous 1/8 - 3
6-43738680-C-G c.237C>G p.Ala79Ala Synonymous 1/8 - 3
6-43738680-C-T c.237C>T p.Ala79Ala Synonymous 1/8 - 3
6-43738681-GCG-TGT c.238_240delinsTGT p.Ala80Cys Missense 1/8 - 1
6-43738690-GC-TT c.247_248delinsTT p.Ala83Phe Missense 1/8 - 1
6-43738691-CT-AG c.248_249inv p.Ala83Glu Missense 1/8 - 2
6-43738693-AGC-GAG c.250_252delinsGAG p.Ser84Glu Missense 1/8 - 1
6-43738693-AG-GC c.250_251delinsGC p.Ser84Ala Missense 1/8 - 1
6-43738696-T-G c.253T>G p.Ser85Ala Missense 1/8 - 1
6-43738706-A-G c.263A>G p.Glu88Gly Missense 1/8 - 1
6-43738708-GAG-TGT c.265_267delinsTGT p.Glu89Cys Missense 1/8 - 1
6-43738709-A-C c.266A>C p.Glu89Ala Missense 1/8 - 1
6-43738710-G-A c.267G>A p.Glu89Glu Synonymous 1/8 - 1
6-43738710-G-C c.267G>C p.Glu89Asp Missense 1/8 - 1
6-43738710-G-T c.267G>T p.Glu89Asp Missense 1/8 - 1
6-43738711-CCG-ATC c.268_270delinsATC p.Pro90Ile Missense 1/8 - 1
6-43738711-CC-GG c.268_269inv p.Pro90Gly Missense 1/8 - 1
6-43738713-G-A c.270G>A p.Pro90Pro Synonymous 1/8 - 3
6-43738713-G-C c.270G>C p.Pro90Pro Synonymous 1/8 - 3
6-43738713-G-T c.270G>T p.Pro90Pro Synonymous 1/8 - 3
6-43738720-GA-TC c.277_278inv p.Glu93Ser Missense 1/8 - 1
6-43738721-A-C c.278A>C p.Glu93Ala Missense 1/8 - 1
6-43738729-G-C c.286G>C p.Glu96Gln Missense 1/8 - 1
6-43738730-A-C c.287A>C p.Glu96Ala Missense 1/8 - 1
6-43738732-GAG-TGT c.289_291delinsTGT p.Glu97Cys Missense 1/8 - 1
6-43738734-G-C c.291G>C p.Glu97Asp Missense 1/8 - 1
6-43738734-G-T c.291G>T p.Glu97Asp Missense 1/8 - 1
6-43738735-G-A c.292G>A p.Glu98Lys Missense 1/8 - 1
6-43738735-GAA-TGT c.292_294delinsTGT p.Glu98Cys Missense 1/8 - 1
6-43738737-A-C c.294A>C p.Glu98Asp Missense 1/8 - 1
6-43738737-A-T c.294A>T p.Glu98Asp Missense 1/8 - 1
6-43738741-GA-AT c.298_299delinsAT p.Glu100Met Missense 1/8 - 1
6-43738743-G-C c.300G>C p.Glu100Asp Missense 1/8 - 1
6-43738743-G-T c.300G>T p.Glu100Asp Missense 1/8 - 1
6-43738744-AA-GC c.301_302delinsGC p.Lys101Ala Missense 1/8 - 2
6-43738745-A-G c.302A>G p.Lys101Arg Missense 1/8 - 2
6-43738756-AG-GC c.313_314delinsGC p.Arg105Ala Missense 1/8 - 1
6-43738762-C-T c.319C>T p.Pro107Ser Missense 1/8 - 1
6-43738769-G-A c.326G>A p.Trp109* Nonsense 1/8 - 2
6-43738770-G-A c.327G>A p.Trp109* Nonsense 1/8 - 2
6-43738771-CG-GC c.328_329delinsGC p.Arg110Ala Missense 1/8 - 1
6-43738772-G-A c.329G>A p.Arg110Gln Missense 1/8 - 3
6-43738780-G-A c.337G>A p.Ala113Thr Missense 1/8 - 1
6-43738783-CG-GC c.340_341delinsGC p.Arg114Ala Missense 1/8 - 1
6-43738783-C-T c.340C>T p.Arg114Trp Missense 1/8 - 1
6-43738786-A-C c.343A>C p.Lys115Gln Missense 1/8 - 1
6-43738786-A-G c.343A>G p.Lys115Glu Missense 1/8 - 1
6-43738795-T-C c.352T>C p.Ser118Pro Missense 1/8 - 1
6-43738795-T-G c.352T>G p.Ser118Ala Missense 1/8 - 1
6-43738799-G-A c.356G>A p.Trp119* Nonsense 1/8 - 2
6-43738800-G-A c.357G>A p.Trp119* Nonsense 1/8 - 2
6-43738802-CG-AC c.359_360delinsAC p.Thr120Asn Missense 1/8 - 1
6-43738813-G-A c.370G>A p.Ala124Thr Missense 1/8 - 1
6-43738819-T-C c.376T>C p.Cys126Arg Missense 1/8 - 1
6-43738819-TG-GC c.376_377delinsGC p.Cys126Ala Missense 1/8 - 1
6-43738825-GAC-AAG c.382_384delinsAAG p.Asp128Lys Missense 1/8 - 1
6-43738828-AG-GA c.385_386delinsGA p.Ser129Asp Missense 1/8 - 2
6-43738828-A-C c.385A>C p.Ser129Arg Missense 1/8 - 1
6-43738830-T-A c.387T>A p.Ser129Arg Missense 1/8 - 1
6-43738830-T-G c.387T>G p.Ser129Arg Missense 1/8 - 1
6-43738846-G-A c.403G>A p.Ala135Thr Missense 1/8 - 1
6-43738846-G-T c.403G>T p.Ala135Ser Missense 1/8 - 1
6-43738847-C-T c.404C>T p.Ala135Val Missense 1/8 - 2
6-43738859-T-G c.416T>G p.Leu139Arg Missense 1/8 - 1
6-43738864-C-G c.421C>G p.Arg141Gly Missense 1/8 - 1
6-43738864-C-T c.421C>T p.Arg141Trp Missense 1/8 - 1
6-43738874-G-T c.431G>T p.Gly144Val Missense 1/8 - 1
6-43738876-CGG-TGT c.433_435delinsTGT p.Arg145Cys Missense 1/8 - 1
6-43738880-G-C c.437G>C p.Gly146Ala Missense 1/8 - 1
6-43738882-G-A c.439G>A p.Gly147Arg Missense 1/8 - 1
6-43738882-G-C c.439G>C p.Gly147Arg Missense 1/8 - 1
6-43738882-GGA-AGC c.439_441delinsAGC p.Gly147Ser Missense 1/8 - 2
6-43738882-GGA-TGT c.439_441delinsTGT p.Gly147Cys Missense 1/8 - 1
6-43738883-GA-AC c.440_441delinsAC p.Gly147Asp Missense 1/8 - 1
6-43738885-AG-GC c.442_443delinsGC p.Arg148Ala Missense 1/8 - 1
6-43738889-T-C c.446T>C p.Val149Ala Missense 1/8 - 1
6-43738891-G-C c.448G>C p.Ala150Pro Missense 1/8 - 1
6-43738894-C-T c.451C>T p.Arg151Cys Missense 1/8 - 1
6-43738895-GC-AA c.452_453delinsAA p.Arg151Gln Missense 1/8 - 1
6-43738919-C-A c.476C>A p.Pro159Gln Missense 1/8 - 1
6-43738924-CA-AT c.481_482delinsAT p.His161Ile Missense 1/8 - 1
6-43738925-A-G c.482A>G p.His161Arg Missense 1/8 - 1
6-43738936-CG-GC c.493_494delinsGC p.Arg165Ala Missense 1/8 - 1
6-43738939-AGA-TGG c.496_498delinsTGG p.Arg166Trp Missense 1/8 - 2
6-43738942-G-A c.499G>A p.Gly167Arg Missense 1/8 - 1
6-43738942-G-C c.499G>C p.Gly167Arg Missense 1/8 - 1
6-43738942-GGG-TGT c.499_501delinsTGT p.Gly167Cys Missense 1/8 - 1
6-43738945-A-G c.502A>G p.Ser168Gly Missense 1/8 - 1
6-43738945-AG-GC c.502_503delinsGC p.Ser168Ala Missense 1/8 - 1
6-43738951-A-G c.508A>G p.Ser170Gly Missense 1/8 - 1
6-43738951-A-T c.508A>T p.Ser170Cys Missense 1/8 - 1
6-43738955-G-A c.512G>A p.Arg171His Missense 1/8 - 2
6-43738969-C-T c.526C>T p.Arg176Trp Missense 1/8 - 1
6-43738975-T-G c.532T>G p.Ser178Ala Missense 1/8 - 1
6-43738977-C-A c.534C>A p.Ser178Ser Synonymous 1/8 - 4
6-43738977-C-G c.534C>G p.Ser178Ser Synonymous 1/8 - 90
6-43738977-C-T c.534C>T p.Ser178Ser Synonymous 1/8 - 90
6-43738981-AC-TA c.538_539delinsTA p.Thr180Tyr Missense 1/8 - 1
6-43738988-A-G c.545A>G p.Asn182Ser Missense 1/8 - 1
6-43738996-CTG-AAC c.553_555delinsAAC p.Leu185Asn Missense 1/8 - 1
6-43738999-T-G c.556T>G p.Ser186Ala Missense 1/8 - 2
6-43739000-C-T c.557C>T p.Ser186Phe Missense 1/8 - 1
6-43739017-CT-AG c.574_575inv p.Leu192Ser Missense 1/8 - 1
6-43739020-GC-CT c.577_578delinsCT p.Ala193Leu Missense 1/8 - 1
6-43739038-CA-GC c.595_596delinsGC p.His199Ala Missense 1/8 - 2
6-43739044-GCC-ATG c.601_603delinsATG p.Ala201Met Missense 1/8 - 1
6-43739048-AG-GC c.605_606delinsGC p.Lys202Ser Missense 1/8 - 1
6-43739327-C-T c.606+278C>T - IntronicSNV - 1/7 1
6-43739446-T-C c.606+397T>C - IntronicSNV - 1/7 2
6-43739989-C-T c.606+940C>T - IntronicSNV - 1/7 3
6-43740094-T-C c.606+1045T>C - IntronicSNV - 1/7 4
6-43740451-C-G c.606+1402C>G - IntronicSNV - 1/7 2
6-43740451-C-T c.606+1402C>T - IntronicSNV - 1/7 2
6-43740678-T-A c.607-1400T>A - IntronicSNV - 1/7 35
6-43740678-T-C c.607-1400T>C - IntronicSNV - 1/7 35
6-43740840-C-T c.607-1238C>T - IntronicSNV - 1/7 6
6-43741201-G-A c.607-877G>A - IntronicSNV - 1/7 1
6-43741451-G-T c.607-627G>T - IntronicSNV - 1/7 5
6-43741663-C-T c.607-415C>T - IntronicSNV - 1/7 1
6-43741957-A-T c.607-121A>T - IntronicSNV - 1/7 1
6-43741959-T-C c.607-119T>C - IntronicSNV - 1/7 2
6-43742079-GG-TT c.608_609delinsTT p.Trp203Phe Missense 2/8 - 1
6-43742085-A-T c.614A>T p.Gln205Leu Missense 2/8 - 4
6-43742087-GCT-AAG c.616_618delinsAAG p.Ala206Lys Missense 2/8 - 2
6-43742091-C-A c.620C>A p.Ala207Glu Missense 2/8 - 1
6-43742106-GA-AC c.635_636delinsAC p.Gly212Asp Missense 2/8 - 1
6-43742109-G-C c.638G>C p.Gly213Ala Missense 2/8 - 2
6-43742419-G-C c.658+290G>C - IntronicSNV - 2/7 2
6-43742419-G-T c.658+290G>T - IntronicSNV - 2/7 2
6-43742527-G-A c.658+398G>A - IntronicSNV - 2/7 42
6-43742579-T-C c.658+450T>C - IntronicSNV - 2/7 58
6-43742579-T-G c.658+450T>G - IntronicSNV - 2/7 58
6-43742626-T-C c.658+497T>C - IntronicSNV - 2/7 45
6-43743241-G-T c.658+1112G>T - IntronicSNV - 2/7 1
6-43743507-C-T c.658+1378C>T - IntronicSNV - 2/7 25
6-43744116-G-A c.659-1090G>A - IntronicSNV - 2/7 1
6-43744621-C-T c.659-585C>T - IntronicSNV - 2/7 9
6-43745095-C-A c.659-111C>A - IntronicSNV - 2/7 58
6-43745107-G-A c.659-99G>A - IntronicSNV - 2/7 23
6-43745212-A-G c.665A>G p.Lys222Arg Missense 3/8 - 2
6-43745214-TT-CG c.667_668delinsCG p.Phe223Arg Missense 3/8 - 1
6-43745233-GC-AA c.686_687delinsAA p.Arg229Gln Missense 3/8 - 2
6-43745239-A-G c.692A>G p.Tyr231Cys Missense 3/8 - 1
6-43745260-T-C c.713T>C p.Leu238Pro Missense 3/8 - 1
6-43745267-C-T c.720C>T p.Asp240Asp Synonymous 3/8 - 1
6-43745283-C-A c.736C>A p.Pro246Thr Missense 3/8 - 1
6-43745298-T-C c.751T>C p.Tyr251His Missense 3/8 - 1
6-43745313-TC-CA c.766_767delinsCA p.Ser256His Missense 3/8 - 1
6-43745313-TC-CT c.766_767delinsCT p.Ser256Leu Missense 3/8 - 1
6-43745313-TC-GA c.766_767inv p.Ser256Asp Missense 3/8 - 1
6-43745313-T-G c.766T>G p.Ser256Ala Missense 3/8 - 2
6-43745314-C-G c.767C>G p.Ser256Cys Missense 3/8 - 1
6-43745317-G-C c.770G>C p.Cys257Ser Missense 3/8 - 1
6-43745323-C-G c.776C>G p.Pro259Arg Missense 3/8 - 1
6-43745326-T-C c.779T>C p.Leu260Pro Missense 3/8 - 1
6-43745331-CGA-AGC c.784_786delinsAGC p.Arg262Ser Missense 3/8 - 1
6-43745334-T-A c.787T>A p.Cys263Ser Missense 3/8 - 1
6-43745335-G-C c.788G>C p.Cys263Ser Missense 3/8 - 1
6-43745336-C-A c.789C>A p.Cys263* Nonsense 3/8 - 1
6-43745337-GGG-TGT c.790_792delinsTGT p.Gly264Cys Missense 3/8 - 1
6-43745343-T-A c.796T>A p.Cys266Ser Missense 3/8 - 1
6-43745344-G-C c.797G>C p.Cys266Ser Missense 3/8 - 1
6-43745346-T-A c.799T>A p.Cys267Ser Missense 3/8 - 1
6-43745347-G-C c.800G>C p.Cys267Ser Missense 3/8 - 1
6-43745365-A-G c.818A>G p.Glu273Gly Missense 3/8 - 1
6-43745367-T-A c.820T>A p.Cys274Ser Missense 3/8 - 1
6-43745368-G-C c.821G>C p.Cys274Ser Missense 3/8 - 1
6-43745389-A-C c.842A>C p.Asn281Thr Missense 3/8 - 2
6-43745392-TC-AG c.845_846delinsAG p.Ile282Lys Missense 3/8 - 1
6-43745452-C-G c.855+50C>G - IntronicSNV - 3/7 1
6-43745577-C-T c.855+175C>T - IntronicSNV - 3/7 5
6-43745875-G-A c.856-322G>A - IntronicSNV - 3/7 1
6-43746169-C-T c.856-28C>T - IntronicSNV - 3/7 35
6-43746203-CG-GC c.862_863delinsGC p.Arg288Ala Missense 4/8 - 1
6-43746208-C-T c.867C>T p.Ile289Ile Synonymous 4/8 - 1
6-43746210-AA-TG c.869_870delinsTG p.Lys290Met Missense 4/8 - 1
6-43746210-A-G c.869A>G p.Lys290Arg Missense 4/8 - 1
6-43746215-CA-AG c.874_875delinsAG p.His292Ser Missense 4/8 - 1
6-43746215-CA-GT c.874_875delinsGT p.His292Val Missense 4/8 - 1
6-43746224-CA-GC c.883_884delinsGC p.Gln295Ala Missense 4/8 - 1
6-43746230-A-G c.889A>G p.Ile297Val Missense 4/8 - 1
6-43746234-G-C c.893G>C p.Gly298Ala Missense 4/8 - 1
6-43746236-G-A c.895G>A p.Glu299Lys Missense 4/8 - 1
6-43746237-A-C c.896A>C p.Glu299Ala Missense 4/8 - 1
6-43746239-AT-GC c.898_899delinsGC p.Met300Ala Missense 4/8 - 1
6-43746239-ATG-TTT c.898_900delinsTTT p.Met300Phe Missense 4/8 - 1
6-43746242-AG-GC c.901_902delinsGC p.Ser301Ala Missense 4/8 - 1
6-43746258-A-G c.917A>G p.Asn306Ser Missense 4/8 - 1
6-43746263-T-C c.922T>C p.Cys308Arg Missense 4/8 - 1
6-43746329-G-A c.932+56G>A - IntronicSNV - 4/7 1
6-43746410-C-T c.932+137C>T - IntronicSNV - 4/7 5
6-43746423-A-G c.932+150A>G - IntronicSNV - 4/7 1
6-43746489-A-G c.933-137A>G - IntronicSNV - 4/7 1
6-43746634-A-G c.941A>G p.Lys314Arg Missense 5/8 - 1
6-43746649-A-T c.956A>T p.Gln319Leu Missense 5/8 - 1
6-43746651-G-T c.958G>T p.Glu320* Nonsense 5/8 - 1
6-43746949-T-C c.962+294T>C - IntronicSNV - 5/7 3
6-43747248-C-T c.962+593C>T - IntronicSNV - 5/7 6
6-43747371-C-T c.962+716C>T - IntronicSNV - 5/7 7
6-43747378-G-A c.962+723G>A - IntronicSNV - 5/7 1
6-43747450-G-A c.962+795G>A - IntronicSNV - 5/7 3
6-43747577-T-C c.963-892T>C - IntronicSNV - 5/7 42
6-43747577-T-G c.963-892T>G - IntronicSNV - 5/7 42
6-43747623-A-T c.963-846A>T - IntronicSNV - 5/7 3
6-43747962-A-G c.963-507A>G - IntronicSNV - 5/7 4
6-43747971-G-GTA c.963-498_963-497insTA - IntronicInsertion - 5/7 1
6-43747971-G-GTC c.963-498_963-497insTC - IntronicInsertion - 5/7 1
6-43748350-G-A c.963-119G>A - IntronicSNV - 5/7 3
6-43748357-G-A c.963-112G>A - IntronicSNV - 5/7 4
6-43748439-T-C c.963-30T>C - IntronicSNV - 5/7 1
6-43748439-T-G c.963-30T>G - IntronicSNV - 5/7 1
6-43748470-AA-GC c.964_965delinsGC p.Lys322Ala Missense 6/8 - 4
6-43748470-A-G c.964A>G p.Lys322Glu Missense 6/8 - 1
6-43748473-TCA-AAC c.967_969delinsAAC p.Ser323Asn Missense 6/8 - 2
6-43748477-GTTCGAGGAAAGG-G c.971_982del p.Val324_Lys327del InFrameDeletion 6/8 - 1
6-43748479-C-G c.973C>G p.Arg325Gly Missense 6/8 - 1
6-43748479-C-T c.973C>T p.Arg325* Nonsense 6/8 - 1
6-43748483-GA-AC c.977_978delinsAC p.Gly326Asp Missense 6/8 - 1
6-43748486-A-G c.980A>G p.Lys327Arg Missense 6/8 - 1
6-43748488-G-A c.982G>A p.Gly328Arg Missense 6/8 - 1
6-43748488-G-C c.982G>C p.Gly328Arg Missense 6/8 - 1
6-43748492-A-G c.986A>G p.Lys329Arg Missense 6/8 - 1
6-43748497-C-A c.991C>A p.Gln331Lys Missense 6/8 - 1
6-43748498-A-G c.992A>G p.Gln331Arg Missense 6/8 - 1
6-43748503-C-T c.997C>T p.Arg333* Nonsense 6/8 - 1
6-43748504-G-A c.998G>A p.Arg333Gln Missense 6/8 - 2
6-43748506-AA-GC c.1000_1001delinsGC p.Lys334Ala Missense 6/8 - 1
6-43748516-A-G c.1010A>G p.Lys337Arg Missense 6/8 - 2
6-43748519-C-T c.1013C>T p.Ser338Phe Missense 6/8 - 1
6-43748521-C-T c.1015C>T p.Arg339Trp Missense 6/8 - 1
6-43748524-T-C c.1018T>C p.Tyr340His Missense 6/8 - 1
6-43748524-T-G c.1018T>G p.Tyr340Asp Missense 6/8 - 1
6-43748527-AA-GC c.1021_1022delinsGC p.Lys341Ala Missense 6/8 - 5
6-43748531-C-T c.1025C>T p.Ser342Phe Missense 6/8 - 1
6-43748538-C-T c.1032C>T p.Ser344Ser Synonymous 6/8 - 1
6-43748545-G-A c.1039G>A p.Val347Ile Missense 6/8 - 3
6-43748557-T-G c.1051T>G p.Cys351Gly Missense 6/8 - 1
6-43748565-A-G c.1059A>G p.Leu353Leu Synonymous 6/8 - 1
6-43748568-G-A c.1062G>A p.Met354Ile Missense 6/8 - 1
6-43748568-G-C c.1062G>C p.Met354Ile Missense 6/8 - 1
6-43748568-G-T c.1062G>T p.Met354Ile Missense 6/8 - 1
6-43748569-C-T c.1063C>T p.Pro355Ser Missense 6/8 - 1
6-43748585-G-C c.1079G>C p.Gly360Ala Missense 6/8 - 2
6-43748588-C-G c.1082C>G p.Pro361Arg Missense 6/8 - 1
6-43748593-T-C c.1085+2T>C - IntronicSNV - 6/7 1
6-43748600-T-C c.1085+9T>C - IntronicSNV - 6/7 1
6-43748643-T-C c.1085+52T>C - IntronicSNV - 6/7 4
6-43748643-T-G c.1085+52T>G - IntronicSNV - 6/7 4
6-43748795-C-G c.1085+204C>G - IntronicSNV - 6/7 4
6-43748795-C-T c.1085+204C>T - IntronicSNV - 6/7 4
6-43748986-A-G c.1085+395A>G - IntronicSNV - 6/7 1
6-43749110-C-T c.1085+519C>T - IntronicSNV - 6/7 25
6-43749163-T-C c.1086-530T>C - IntronicSNV - 6/7 24
6-43749230-C-T c.1086-463C>T - IntronicSNV - 6/7 2
6-43749513-C-T c.1086-180C>T - IntronicSNV - 6/7 3
6-43749697-T-G c.1090T>G p.Cys364Gly Missense 7/8 - 1
6-43749701-G-C c.1094G>C p.Gly365Ala Missense 7/8 - 1
6-43749709-T-G c.1102T>G p.Ser368Ala Missense 7/8 - 3
6-43749730-T-C c.1123T>C p.Phe375Leu Missense 7/8 - 1
6-43749739-GA-CG c.1132_1133delinsCG p.Asp378Arg Missense 7/8 - 1
6-43749748-ACG-TGT c.1141_1143delinsTGT p.Thr381Cys Missense 7/8 - 1
6-43749772-AC-GA c.1165_1166delinsGA p.Thr389Glu Missense 7/8 - 1
6-43749772-A-G c.1165A>G p.Thr389Ala Missense 7/8 - 1
6-43749778-TCG-AAC c.1171_1173delinsAAC p.Ser391Asn Missense 7/8 - 2
6-43749778-T-G c.1171T>G p.Ser391Ala Missense 7/8 - 1
6-43749781-CG-GC c.1174_1175delinsGC p.Arg392Ala Missense 7/8 - 1
6-43749793-AGG-TGT c.1186_1188delinsTGT p.Arg396Cys Missense 7/8 - 1
6-43749795-G-C c.1188G>C p.Arg396Ser Missense 7/8 - 1
6-43749795-G-T c.1188G>T p.Arg396Ser Missense 7/8 - 1
6-43749804-G-C c.1197G>C p.Glu399Asp Missense 7/8 - 1
6-43749804-G-T c.1197G>T p.Glu399Asp Missense 7/8 - 1
6-43749805-TT-AG c.1198_1199delinsAG p.Leu400Arg Missense 7/8 - 1
6-43749811-G-C c.1204G>C p.Glu402Gln Missense 7/8 - 1
6-43749820-T-G c.1213T>G p.Cys405Gly Missense 7/8 - 2
6-43750491-T-A c.1217+667T>A - IntronicSNV - 7/7 2
6-43750551-C-G c.1217+727C>G - IntronicSNV - 7/7 9
6-43750556-G-A c.1217+732G>A - IntronicSNV - 7/7 4
6-43750587-G-C c.1217+763G>C - IntronicSNV - 7/7 32
6-43751037-T-C c.1217+1213T>C - IntronicSNV - 7/7 3
6-43751075-A-G c.1218-1203A>G - IntronicSNV - 7/7 44
6-43751359-C-T c.1218-919C>T - IntronicSNV - 7/7 56
6-43751669-G-A c.1218-609G>A - IntronicSNV - 7/7 3
6-43751669-G-C c.1218-609G>C - IntronicSNV - 7/7 3
6-43751669-G-T c.1218-609G>T - IntronicSNV - 7/7 3
6-43752083-C-T c.1218-195C>T - IntronicSNV - 7/7 3
6-43752224-G-A c.1218-54G>A - IntronicSNV - 7/7 1
6-43752283-A-C c.1223A>C p.Asp408Ala Missense 8/8 - 1
6-43752285-AAG-GAC c.1225_1227delinsGAC p.Lys409Asp Missense 8/8 - 3
6-43752286-A-G c.1226A>G p.Lys409Arg Missense 8/8 - 1
6-43752469-G-A c.*170G>A - 3-UTRSNV 8/8 - 1
6-43752469-G-T c.*170G>T - 3-UTRSNV 8/8 - 1
6-43752536-C-T c.*237C>T - 3-UTRSNV 8/8 - 320
6-43753051-C-T c.*752C>T - 3-UTRSNV 8/8 - 32
6-43753212-A-G c.*913A>G - 3-UTRSNV 8/8 - 81
6-43753247-C-T c.*948C>T - 3-UTRSNV 8/8 - 1
6-43753325-G-A c.*1026G>A - 3-UTRSNV 8/8 - 23
6-43753364-C-A c.*1065C>A - 3-UTRSNV 8/8 - 1
6-43753722-G-A c.*1423G>A - 3-UTRSNV 8/8 - 2
6-43753722-G-T c.*1423G>T - 3-UTRSNV 8/8 - 2