IL6

IL6 interleukin 6

Annotation transcript: NM_000600.5

1012 unique variant annotations were identified in 2384 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
7-22766834-C-A c.-48C>A - 5-UTRSNV 1/5 - 4
7-22766849-G-C c.-33G>C - 5-UTRSNV 1/5 - 2
7-22766882-A-G c.1A>G p.M1? Missense 1/5 - 1
7-22766883-T-C c.2T>C p.M1? Missense 1/5 - 2
7-22766883-T-G c.2T>G p.M1? Missense 1/5 - 1
7-22766884-G-A c.3G>A p.M1? Missense 1/5 - 1
7-22766887-C-A c.6C>A p.N2K Missense 1/5 - 1
7-22766887-C-T c.6C>T p.N2= Synonymous 1/5 - 43
7-22766888-TC-CG c.7_8delinsCG p.S3R Missense 1/5 - 1
7-22766886-ACTC-A c.8_10del p.S3del InFrameDeletion 1/5 - 1
7-22766889-CC-AA c.8_9delinsAA p.S3* Nonsense 1/5 - 1
7-22766889-C-T c.8C>T p.S3F Missense 1/5 - 1
7-22766890-C-A c.9C>A p.S3= Synonymous 1/5 - 4
7-22766890-C-G c.9C>G p.S3= Synonymous 1/5 - 4
7-22766890-C-T c.9C>T p.S3= Synonymous 1/5 - 5
7-22766891-T-C c.10T>C p.F4L Missense 1/5 - 1
7-22766891-T-G c.10T>G p.F4V Missense 1/5 - 4
7-22766893-C-A c.12C>A p.F4L Missense 1/5 - 1
7-22766893-C-G c.12C>G p.F4L Missense 1/5 - 1
7-22766892-T-C c.11T>C p.F4S Missense 1/5 - 2
7-22766893-C-T c.12C>T p.F4= Synonymous 1/5 - 3
7-22766896-C-A c.15C>A p.S5= Synonymous 1/5 - 1
7-22766896-C-G c.15C>G p.S5= Synonymous 1/5 - 1
7-22766896-C-T c.15C>T p.S5= Synonymous 1/5 - 3
7-22766899-A-C c.18A>C p.T6= Synonymous 1/5 - 5
7-22766899-A-G c.18A>G p.T6= Synonymous 1/5 - 6
7-22766899-A-T c.18A>T p.T6= Synonymous 1/5 - 5
7-22766941-G-T c.19+41G>T - IntronicSNV - 1/4 1
7-22766979-G-C c.19+79G>C - IntronicSNV - 1/4 1
7-22767060-C-G c.20-3C>G - IntronicSNV - 1/4 1
7-22767060-C-T c.20-3C>T - IntronicSNV - 1/4 1
7-22767063-G-A c.20G>A p.S7N Missense 2/5 - 1
7-22767063-GGCGC-G c.20_23del p.S7Tfs*32 SpliceAcceptorDeletion 2/5 - 1
7-22767063-G-T c.20G>T p.S7I Missense 2/5 - 1
7-22767064-C-A c.21C>A p.S7R Missense 2/5 - 2
7-22767065-G-A c.22G>A p.A8T Missense 2/5 - 3
7-22767066-C-T c.23C>T p.A8V Missense 2/5 - 1
7-22767067-C-A c.24C>A p.A8= Synonymous 2/5 - 1
7-22767067-C-G c.24C>G p.A8= Synonymous 2/5 - 1
7-22767067-C-T c.24C>T p.A8= Synonymous 2/5 - 1
7-22767070-C-T c.27C>T p.F9= Synonymous 2/5 - 1
7-22767071-G-A c.28G>A p.G10S Missense 2/5 - 3
7-22767071-G-C c.28G>C p.G10R Missense 2/5 - 1
7-22767071-GG-AC c.28_29delinsAC p.G10T Missense 2/5 - 2
7-22767071-GG-CA c.28_29delinsCA p.G10H Missense 2/5 - 2
7-22767071-GG-CC c.28_29inv p.G10P Missense 2/5 - 2
7-22767071-GGT-AAG c.28_30delinsAAG p.G10K Missense 2/5 - 1
7-22767072-G-A c.29G>A p.G10D Missense 2/5 - 1
7-22767072-G-C c.29G>C p.G10A Missense 2/5 - 1
7-22767073-T-A c.30T>A p.G10= Synonymous 2/5 - 3
7-22767073-T-C c.30T>C p.G10= Synonymous 2/5 - 3
7-22767073-T-G c.30T>G p.G10= Synonymous 2/5 - 3
7-22767074-CCA-TGT c.31_33delinsTGT p.P11C Missense 2/5 - 1
7-22767074-CCA-TTT c.31_33delinsTTT p.P11F Missense 2/5 - 1
7-22767074-CC-TA c.31_32delinsTA p.P11* Nonsense 2/5 - 1
7-22767074-C-G c.31C>G p.P11A Missense 2/5 - 1
7-22767075-C-G c.32C>G p.P11R Missense 2/5 - 1
7-22767075-C-T c.32C>T p.P11L Missense 2/5 - 2
7-22767076-A-C c.33A>C p.P11= Synonymous 2/5 - 1
7-22767076-A-G c.33A>G p.P11= Synonymous 2/5 - 1
7-22767076-A-T c.33A>T p.P11= Synonymous 2/5 - 1
7-22767077-G-A c.34G>A p.V12I Missense 2/5 - 7
7-22767077-G-C c.34G>C p.V12L Missense 2/5 - 2
7-22767077-GT-CA c.34_35delinsCA p.V12H Missense 2/5 - 4
7-22767077-GTT-ATG c.34_36delinsATG p.V12M Missense 2/5 - 1
7-22767077-GTT-TAA c.34_36delinsTAA p.V12* Nonsense 2/5 - 2
7-22767078-T-A c.35T>A p.V12D Missense 2/5 - 2
7-22767078-T-C c.35T>C p.V12A Missense 2/5 - 1
7-22767078-T-G c.35T>G p.V12G Missense 2/5 - 4
7-22767078-TT-AG c.35_36delinsAG p.V12E Missense 2/5 - 1
7-22767079-T-A c.36T>A p.V12= Synonymous 2/5 - 1
7-22767079-T-C c.36T>C p.V12= Synonymous 2/5 - 1
7-22767079-T-G c.36T>G p.V12= Synonymous 2/5 - 1
7-22767080-G-A c.37G>A p.A13T Missense 2/5 - 1
7-22767080-GC-CT c.37_38delinsCT p.A13L Missense 2/5 - 1
7-22767080-GCC-TGG c.37_39delinsTGG p.A13W Missense 2/5 - 1
7-22767080-GC-TG c.37_38delinsTG p.A13C Missense 2/5 - 4
7-22767080-GC-TT c.37_38delinsTT p.A13F Missense 2/5 - 3
7-22767081-C-A c.38C>A p.A13D Missense 2/5 - 4
7-22767081-CC-AG c.38_39delinsAG p.A13E Missense 2/5 - 2
7-22767080-GC-G c.39del p.F14Sfs*26 Frameshift 2/5 - 1
7-22767082-C-A c.39C>A p.A13= Synonymous 2/5 - 2
7-22767082-C-G c.39C>G p.A13= Synonymous 2/5 - 2
7-22767082-C-T c.39C>T p.A13= Synonymous 2/5 - 2
7-22767083-T-C c.40T>C p.F14L Missense 2/5 - 1
7-22767083-TT-AA c.40_41inv p.F14N Missense 2/5 - 1
7-22767083-T-TC c.40_41insC p.F14Sfs*41 Frameshift 2/5 - 1
7-22767083-TTC-GAG c.40_42delinsGAG p.F14E Missense 2/5 - 2
7-22767083-TT-GA c.40_41delinsGA p.F14D Missense 2/5 - 2
7-22767083-TT-GC c.40_41delinsGC p.F14A Missense 2/5 - 2
7-22767085-C-A c.42C>A p.F14L Missense 2/5 - 1
7-22767085-C-G c.42C>G p.F14L Missense 2/5 - 1
7-22767086-T-C c.43T>C p.S15P Missense 2/5 - 2
7-22767086-TC-AA c.43_44delinsAA p.S15N Missense 2/5 - 1
7-22767086-TC-AT c.43_44delinsAT p.S15I Missense 2/5 - 4
7-22767086-TC-CA c.43_44delinsCA p.S15H Missense 2/5 - 3
7-22767086-TCC-ATG c.43_45delinsATG p.S15M Missense 2/5 - 1
7-22767086-TCC-GAG c.43_45delinsGAG p.S15E Missense 2/5 - 18
7-22767086-TC-GA c.43_44inv p.S15D Missense 2/5 - 25
7-22767086-TC-GG c.43_44delinsGG p.S15G Missense 2/5 - 6
7-22767086-T-G c.43T>G p.S15A Missense 2/5 - 92
7-22767087-CC-AA c.44_45delinsAA p.S15* Nonsense 2/5 - 1
7-22767087-CC-TT c.44_45delinsTT p.S15F Missense 2/5 - 1
7-22767087-C-G c.44C>G p.S15C Missense 2/5 - 40
7-22767087-C-T c.44C>T p.S15F Missense 2/5 - 13
7-22767089-C-G c.46C>G p.L16V Missense 2/5 - 1
7-22767089-CT-GC c.46_47delinsGC p.L16A Missense 2/5 - 2
7-22767089-CTG-GAC c.46_48delinsGAC p.L16D Missense 2/5 - 1
7-22767090-T-C c.47T>C p.L16P Missense 2/5 - 2
7-22767090-T-G c.47T>G p.L16R Missense 2/5 - 1
7-22767091-G-C c.48G>C p.L16= Synonymous 2/5 - 1
7-22767092-G-A c.49G>A p.G17R Missense 2/5 - 1
7-22767092-G-C c.49G>C p.G17R Missense 2/5 - 1
7-22767092-GG-AC c.49_50delinsAC p.G17T Missense 2/5 - 1
7-22767093-G-A c.50G>A p.G17E Missense 2/5 - 2
7-22767093-G-C c.50G>C p.G17A Missense 2/5 - 2
7-22767093-G-T c.50G>T p.G17V Missense 2/5 - 5
7-22767095-C-G c.52C>G p.L18V Missense 2/5 - 1
7-22767095-C-T c.52C>T p.L18= Synonymous 2/5 - 3
7-22767095-CT-AA c.52_53delinsAA p.L18K Missense 2/5 - 1
7-22767095-CT-GC c.52_53delinsGC p.L18A Missense 2/5 - 7
7-22767095-CTG-GAC c.52_54delinsGAC p.L18D Missense 2/5 - 1
7-22767095-CTG-TTT c.52_54delinsTTT p.L18F Missense 2/5 - 30
7-22767095-CT-TG c.52_53delinsTG p.L18W Missense 2/5 - 2
7-22767095-C-CT c.53dup p.L19Afs*36 Frameshift 2/5 - 1
7-22767097-G-A c.54G>A p.L18= Synonymous 2/5 - 1
7-22767098-CTC-GAG c.55_57inv p.L19E Missense 2/5 - 2
7-22767098-CT-GC c.55_56delinsGC p.L19A Missense 2/5 - 1
7-22767101-C-A c.58C>A p.L20M Missense 2/5 - 1
7-22767101-C-T c.58C>T p.L20= Synonymous 2/5 - 2
7-22767102-TG-T c.61del p.V21Cfs*19 Frameshift 2/5 - 1
7-22767104-G-C c.61G>C p.V21L Missense 2/5 - 1
7-22767104-G-T c.61G>T p.V21L Missense 2/5 - 1
7-22767105-T-A c.62T>A p.V21E Missense 2/5 - 1
7-22767105-T-C c.62T>C p.V21A Missense 2/5 - 1
7-22767105-T-G c.62T>G p.V21G Missense 2/5 - 1
7-22767106-G-A c.63G>A p.V21= Synonymous 2/5 - 1
7-22767106-TGTTG-T c.63_66del p.P23Lfs*16 Frameshift 2/5 - 1
7-22767107-T-G c.64T>G p.L22V Missense 2/5 - 1
7-22767107-TT-AG c.64_65delinsAG p.L22R Missense 2/5 - 1
7-22767107-TT-CC c.64_65delinsCC p.L22P Missense 2/5 - 1
7-22767107-TTG-ATC c.64_66delinsATC p.L22I Missense 2/5 - 1
7-22767109-G-T c.66G>T p.L22F Missense 2/5 - 1
7-22767110-C-A c.67C>A p.P23T Missense 2/5 - 1
7-22767110-CCT-AAG c.67_69delinsAAG p.P23K Missense 2/5 - 1
7-22767110-C-G c.67C>G p.P23A Missense 2/5 - 1
7-22767110-C-T c.67C>T p.P23S Missense 2/5 - 3
7-22767111-C-A c.68C>A p.P23H Missense 2/5 - 49
7-22767113-G-A c.70G>A p.A24T Missense 2/5 - 1
7-22767113-G-C c.70G>C p.A24P Missense 2/5 - 1
7-22767113-GC-CA c.70_71delinsCA p.A24H Missense 2/5 - 4
7-22767113-GC-CG c.70_71delinsCG p.A24R Missense 2/5 - 3
7-22767113-GC-CT c.70_71delinsCT p.A24L Missense 2/5 - 1
7-22767113-GCT-AAG c.70_72delinsAAG p.A24K Missense 2/5 - 1
7-22767113-GC-TG c.70_71delinsTG p.A24C Missense 2/5 - 3
7-22767113-GC-TT c.70_71delinsTT p.A24F Missense 2/5 - 5
7-22767113-GCT-TAA c.70_72delinsTAA p.A24* Nonsense 2/5 - 1
7-22767113-GCT-TGG c.70_72delinsTGG p.A24W Missense 2/5 - 1
7-22767114-C-A c.71C>A p.A24D Missense 2/5 - 1
7-22767114-C-G c.71C>G p.A24G Missense 2/5 - 1
7-22767114-C-T c.71C>T p.A24V Missense 2/5 - 2
7-22767114-CT-AG c.71_72inv p.A24E Missense 2/5 - 3
7-22767115-T-A c.72T>A p.A24= Synonymous 2/5 - 3
7-22767115-T-C c.72T>C p.A24= Synonymous 2/5 - 3
7-22767115-T-G c.72T>G p.A24= Synonymous 2/5 - 3
7-22767116-G-A c.73G>A p.A25T Missense 2/5 - 7
7-22767116-GCC-CAA c.73_75delinsCAA p.A25Q Missense 2/5 - 1
7-22767116-GC-CG c.73_74delinsCG p.A25R Missense 2/5 - 2
7-22767116-GC-CT c.73_74delinsCT p.A25L Missense 2/5 - 1
7-22767116-GCC-TAA c.73_75delinsTAA p.A25* Nonsense 2/5 - 1
7-22767116-GCC-TGG c.73_75delinsTGG p.A25W Missense 2/5 - 1
7-22767116-GC-TA c.73_74delinsTA p.A25Y Missense 2/5 - 1
7-22767116-GC-TG c.73_74delinsTG p.A25C Missense 2/5 - 2
7-22767116-GC-TT c.73_74delinsTT p.A25F Missense 2/5 - 3
7-22767116-G-T c.73G>T p.A25S Missense 2/5 - 1
7-22767117-C-A c.74C>A p.A25D Missense 2/5 - 7
7-22767117-CC-AG c.74_75delinsAG p.A25E Missense 2/5 - 12
7-22767117-C-T c.74C>T p.A25V Missense 2/5 - 4
7-22767118-C-A c.75C>A p.A25= Synonymous 2/5 - 8
7-22767118-C-G c.75C>G p.A25= Synonymous 2/5 - 8
7-22767118-C-T c.75C>T p.A25= Synonymous 2/5 - 8
7-22767119-T-C c.76T>C p.F26L Missense 2/5 - 1
7-22767119-TT-CC c.76_77delinsCC p.F26P Missense 2/5 - 2
7-22767119-TTC-GAG c.76_78delinsGAG p.F26E Missense 2/5 - 2
7-22767121-C-T c.78C>T p.F26= Synonymous 2/5 - 2
7-22767122-CC-TT c.79_80delinsTT p.P27F Missense 2/5 - 1
7-22767122-C-T c.79C>T p.P27S Missense 2/5 - 3
7-22767123-C-A c.80C>A p.P27H Missense 2/5 - 2
7-22767123-C-G c.80C>G p.P27R Missense 2/5 - 1
7-22767123-C-T c.80C>T p.P27L Missense 2/5 - 1
7-22767124-T-A c.81T>A p.P27= Synonymous 2/5 - 1
7-22767124-T-C c.81T>C p.P27= Synonymous 2/5 - 1
7-22767124-T-G c.81T>G p.P27= Synonymous 2/5 - 1
7-22767125-G-A c.82G>A p.A28T Missense 2/5 - 2
7-22767125-GC-AA c.82_83delinsAA p.A28N Missense 2/5 - 1
7-22767125-GC-TG c.82_83delinsTG p.A28C Missense 2/5 - 2
7-22767125-GC-TT c.82_83delinsTT p.A28F Missense 2/5 - 3
7-22767125-G-T c.82G>T p.A28S Missense 2/5 - 6
7-22767126-C-A c.83C>A p.A28D Missense 2/5 - 6
7-22767126-CC-AG c.83_84delinsAG p.A28E Missense 2/5 - 4
7-22767126-C-T c.83C>T p.A28V Missense 2/5 - 6
7-22767127-C-A c.84C>A p.A28= Synonymous 2/5 - 2
7-22767127-C-G c.84C>G p.A28= Synonymous 2/5 - 2
7-22767127-C-T c.84C>T p.A28= Synonymous 2/5 - 2
7-22767128-CCA-TTT c.85_87delinsTTT p.P29F Missense 2/5 - 1
7-22767128-C-T c.85C>T p.P29S Missense 2/5 - 4
7-22767129-C-G c.86C>G p.P29R Missense 2/5 - 3
7-22767130-A-G c.87A>G p.P29= Synonymous 2/5 - 1
7-22767131-G-A c.88G>A p.V30I Missense 2/5 - 1
7-22767131-G-T c.88G>T p.V30L Missense 2/5 - 1
7-22767131-GTA-AAC c.88_90delinsAAC p.V30N Missense 2/5 - 2
7-22767131-GTA-ATG c.88_90delinsATG p.V30M Missense 2/5 - 26
7-22767131-GTA-TAT c.88_90delinsTAT p.V30Y Missense 2/5 - 1
7-22767132-T-A c.89T>A p.V30E Missense 2/5 - 1
7-22767132-T-C c.89T>C p.V30A Missense 2/5 - 1
7-22767134-C-A c.91C>A p.P31T Missense 2/5 - 7
7-22767134-CC-TT c.91_92delinsTT p.P31F Missense 2/5 - 1
7-22767135-C-A c.92C>A p.P31H Missense 2/5 - 1
7-22767135-C-G c.92C>G p.P31R Missense 2/5 - 1
7-22767135-C-T c.92C>T p.P31L Missense 2/5 - 2
7-22767136-C-T c.93C>T p.P31= Synonymous 2/5 - 1
7-22767137-CCA-TTT c.94_96delinsTTT p.P32F Missense 2/5 - 1
7-22767137-C-T c.94C>T p.P32S Missense 2/5 - 27
7-22767138-C-G c.95C>G p.P32R Missense 2/5 - 1
7-22767138-C-T c.95C>T p.P32L Missense 2/5 - 1
7-22767140-G-A c.97G>A p.G33R Missense 2/5 - 2
7-22767140-GGA-AGC c.97_99delinsAGC p.G33S Missense 2/5 - 1
7-22767141-GA-AC c.98_99delinsAC p.G33D Missense 2/5 - 7
7-22767141-G-C c.98G>C p.G33A Missense 2/5 - 2
7-22767141-G-T c.98G>T p.G33V Missense 2/5 - 1
7-22767143-G-A c.100G>A p.E34K Missense 2/5 - 3
7-22767143-G-T c.100G>T p.E34* Nonsense 2/5 - 2
7-22767144-A-C c.101A>C p.E34A Missense 2/5 - 1
7-22767145-A-G c.102A>G p.E34= Synonymous 2/5 - 1
7-22767146-G-A c.103G>A p.D35N Missense 2/5 - 1
7-22767146-GA-AC c.103_104delinsAC p.D35T Missense 2/5 - 1
7-22767146-GA-AG c.103_104delinsAG p.D35S Missense 2/5 - 1
7-22767146-GA-TG c.103_104delinsTG p.D35C Missense 2/5 - 2
7-22767146-GAT-TAA c.103_105delinsTAA p.D35* Nonsense 2/5 - 1
7-22767147-A-C c.104A>C p.D35A Missense 2/5 - 2
7-22767147-A-T c.104A>T p.D35V Missense 2/5 - 1
7-22767148-T-A c.105T>A p.D35E Missense 2/5 - 4
7-22767148-T-C c.105T>C p.D35= Synonymous 2/5 - 1
7-22767148-T-G c.105T>G p.D35E Missense 2/5 - 4
7-22767147-AT-A c.106del p.S36Pfs*4 Frameshift 2/5 - 1
7-22767149-TC-GA c.106_107inv p.S36D Missense 2/5 - 3
7-22767149-T-G c.106T>G p.S36A Missense 2/5 - 24
7-22767150-C-G c.107C>G p.S36C Missense 2/5 - 1
7-22767150-C-T c.107C>T p.S36F Missense 2/5 - 1
7-22767149-T-TC c.108dup p.K37Qfs*18 Frameshift 2/5 - 1
7-22767151-C-A c.108C>A p.S36= Synonymous 2/5 - 1
7-22767151-C-G c.108C>G p.S36= Synonymous 2/5 - 1
7-22767151-C-T c.108C>T p.S36= Synonymous 2/5 - 1
7-22767152-A-G c.109A>G p.K37E Missense 2/5 - 1
7-22767155-G-A c.112G>A p.D38N Missense 2/5 - 1
7-22767155-GA-TG c.112_113delinsTG p.D38C Missense 2/5 - 1
7-22767155-G-T c.112G>T p.D38Y Missense 2/5 - 1
7-22767156-A-C c.113A>C p.D38A Missense 2/5 - 9
7-22767156-A-G c.113A>G p.D38G Missense 2/5 - 1
7-22767157-T-A c.114T>A p.D38E Missense 2/5 - 2
7-22767157-T-C c.114T>C p.D38= Synonymous 2/5 - 1
7-22767157-T-G c.114T>G p.D38E Missense 2/5 - 2
7-22767161-G-A c.118G>A p.A40T Missense 2/5 - 3
7-22767161-G-C c.118G>C p.A40P Missense 2/5 - 2
7-22767161-GC-AA c.118_119delinsAA p.A40N Missense 2/5 - 1
7-22767161-GCC-AAG c.118_120delinsAAG p.A40K Missense 2/5 - 1
7-22767161-GCC-ATG c.118_120delinsATG p.A40M Missense 2/5 - 3
7-22767161-GCC-CAA c.118_120delinsCAA p.A40Q Missense 2/5 - 1
7-22767161-GC-CG c.118_119delinsCG p.A40R Missense 2/5 - 1
7-22767161-GC-CT c.118_119delinsCT p.A40L Missense 2/5 - 1
7-22767161-GC-TG c.118_119delinsTG p.A40C Missense 2/5 - 1
7-22767161-GC-TT c.118_119delinsTT p.A40F Missense 2/5 - 7
7-22767161-G-T c.118G>T p.A40S Missense 2/5 - 4
7-22767162-C-A c.119C>A p.A40D Missense 2/5 - 4
7-22767162-CC-AA c.119_120delinsAA p.A40E Missense 2/5 - 1
7-22767162-CC-AG c.119_120delinsAG p.A40E Missense 2/5 - 3
7-22767162-C-T c.119C>T p.A40V Missense 2/5 - 3
7-22767163-C-A c.120C>A p.A40= Synonymous 2/5 - 2
7-22767163-C-G c.120C>G p.A40= Synonymous 2/5 - 2
7-22767163-C-T c.120C>T p.A40= Synonymous 2/5 - 3
7-22767164-G-C c.121G>C p.A41P Missense 2/5 - 1
7-22767164-GC-CG c.121_122delinsCG p.A41R Missense 2/5 - 1
7-22767164-GC-CT c.121_122delinsCT p.A41L Missense 2/5 - 2
7-22767164-GC-TG c.121_122delinsTG p.A41C Missense 2/5 - 3
7-22767164-GC-TT c.121_122delinsTT p.A41F Missense 2/5 - 4
7-22767164-G-T c.121G>T p.A41S Missense 2/5 - 2
7-22767165-C-A c.122C>A p.A41D Missense 2/5 - 1
7-22767165-CC-AG c.122_123delinsAG p.A41E Missense 2/5 - 1
7-22767165-C-G c.122C>G p.A41G Missense 2/5 - 2
7-22767165-C-T c.122C>T p.A41V Missense 2/5 - 2
7-22767166-C-A c.123C>A p.A41= Synonymous 2/5 - 5
7-22767166-C-G c.123C>G p.A41= Synonymous 2/5 - 5
7-22767166-C-T c.123C>T p.A41= Synonymous 2/5 - 5
7-22767167-CCA-ATG c.124_126delinsATG p.P42M Missense 2/5 - 1
7-22767167-CCA-TGT c.124_126delinsTGT p.P42C Missense 2/5 - 2
7-22767167-CCA-TTT c.124_126delinsTTT p.P42F Missense 2/5 - 1
7-22767167-C-G c.124C>G p.P42A Missense 2/5 - 2
7-22767167-C-T c.124C>T p.P42S Missense 2/5 - 4
7-22767168-C-G c.125C>G p.P42R Missense 2/5 - 2
7-22767168-C-T c.125C>T p.P42L Missense 2/5 - 1
7-22767170-CA-TT c.127_128delinsTT p.H43F Missense 2/5 - 1
7-22767171-A-G c.128A>G p.H43R Missense 2/5 - 1
7-22767172-C-T c.129C>T p.H43= Synonymous 2/5 - 2
7-22767173-A-G c.130A>G p.R44G Missense 2/5 - 1
7-22767173-AGA-TGT c.130_132delinsTGT p.R44C Missense 2/5 - 1
7-22767173-AG-CC c.130_131delinsCC p.R44P Missense 2/5 - 1
7-22767173-AG-GC c.130_131delinsGC p.R44A Missense 2/5 - 1
7-22767174-G-A c.131G>A p.R44K Missense 2/5 - 1
7-22767174-G-C c.131G>C p.R44T Missense 2/5 - 3
7-22767173-A-C c.130A>C p.R44= Synonymous 2/5 - 2
7-22767175-A-G c.132A>G p.R44= Synonymous 2/5 - 2
7-22767175-A-AC c.133dup p.Q45Pfs*10 Frameshift 2/5 - 1
7-22767176-C-A c.133C>A p.Q45K Missense 2/5 - 4
7-22767176-C-T c.133C>T p.Q45* Nonsense 2/5 - 1
7-22767179-CC-TA c.136_137delinsTA p.P46* Nonsense 2/5 - 1
7-22767179-C-T c.136C>T p.P46S Missense 2/5 - 2
7-22767180-C-A c.137C>A p.P46Q Missense 2/5 - 1
7-22767180-C-T c.137C>T p.P46L Missense 2/5 - 11
7-22767183-T-G c.140T>G p.L47R Missense 2/5 - 1
7-22767184-C-T c.141C>T p.L47= Synonymous 2/5 - 1
7-22767185-AC-CA c.142_143delinsCA p.T48H Missense 2/5 - 7
7-22767185-AC-GA c.142_143delinsGA p.T48D Missense 2/5 - 1
7-22767185-AC-GG c.142_143delinsGG p.T48G Missense 2/5 - 1
7-22767185-AC-TG c.142_143delinsTG p.T48C Missense 2/5 - 1
7-22767185-A-G c.142A>G p.T48A Missense 2/5 - 2
7-22767185-A-T c.142A>T p.T48S Missense 2/5 - 2
7-22767186-C-A c.143C>A p.T48N Missense 2/5 - 2
7-22767186-C-G c.143C>G p.T48S Missense 2/5 - 2
7-22767187-CCTCTTCAGAACGAATT-C c.144_159del p.S49Tfs*14 Frameshift 2/5 - 1
7-22767187-C-T c.144C>T p.T48= Synonymous 2/5 - 1
7-22767188-T-C c.145T>C p.S49P Missense 2/5 - 3
7-22767188-TC-GA c.145_146inv p.S49D Missense 2/5 - 2
7-22767188-TC-GG c.145_146delinsGG p.S49G Missense 2/5 - 1
7-22767188-T-G c.145T>G p.S49A Missense 2/5 - 1
7-22767189-C-A c.146C>A p.S49Y Missense 2/5 - 1
7-22767189-C-G c.146C>G p.S49C Missense 2/5 - 4
7-22767189-C-T c.146C>T p.S49F Missense 2/5 - 1
7-22767191-TC-AA c.148_149delinsAA p.S50K Missense 2/5 - 3
7-22767191-TC-AG c.148_149delinsAG p.S50R Missense 2/5 - 1
7-22767191-TC-AT c.148_149delinsAT p.S50I Missense 2/5 - 1
7-22767191-T-G c.148T>G p.S50A Missense 2/5 - 1
7-22767192-C-T c.149C>T p.S50L Missense 2/5 - 3
7-22767194-GAA-TGT c.151_153delinsTGT p.E51C Missense 2/5 - 1
7-22767194-G-C c.151G>C p.E51Q Missense 2/5 - 2
7-22767195-A-C c.152A>C p.E51A Missense 2/5 - 3
7-22767195-A-G c.152A>G p.E51G Missense 2/5 - 1
7-22767195-A-T c.152A>T p.E51V Missense 2/5 - 1
7-22767196-A-ATG c.153_154insTG p.R52Cfs*17 Frameshift 2/5 - 1
7-22767196-A-C c.153A>C p.E51D Missense 2/5 - 1
7-22767196-A-G c.153A>G p.E51= Synonymous 2/5 - 1
7-22767196-A-T c.153A>T p.E51D Missense 2/5 - 1
7-22767197-CG-AT c.154_155delinsAT p.R52I Missense 2/5 - 3
7-22767197-CGA-TGG c.154_156delinsTGG p.R52W Missense 2/5 - 1
7-22767197-CGA-TGT c.154_156delinsTGT p.R52C Missense 2/5 - 1
7-22767197-CG-GC c.154_155delinsGC p.R52A Missense 2/5 - 1
7-22767197-C-T c.154C>T p.R52* Nonsense 2/5 - 3
7-22767198-G-A c.155G>A p.R52Q Missense 2/5 - 5
7-22767200-AT-GC c.157_158delinsGC p.I53A Missense 2/5 - 1
7-22767201-T-C c.158T>C p.I53T Missense 2/5 - 5
7-22767203-GA-TG c.160_161delinsTG p.D54C Missense 2/5 - 1
7-22767203-GA-TT c.160_161delinsTT p.D54F Missense 2/5 - 1
7-22767203-G-T c.160G>T p.D54Y Missense 2/5 - 1
7-22767204-A-C c.161A>C p.D54A Missense 2/5 - 1
7-22767205-C-A c.162C>A p.D54E Missense 2/5 - 1
7-22767205-C-G c.162C>G p.D54E Missense 2/5 - 1
7-22767207-AAACAAATTCGGTACATCCTCGACGGCATCTCAGCCCTGAGAAAGGAGGTGGGTAGGCTT-A c.164_210+12del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/5 2/4 1
7-22767207-A-G c.164A>G p.K55R Missense 2/5 - 5
7-22767209-ACAAATTCGGTACATCCTCGACGGCATCTCAGCCCTGAGAAAGGAGGTGGGTAGGCTTGG-A c.167_210+15del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/5 2/4 1
7-22767210-A-C c.167A>C p.Q56P Missense 2/5 - 1
7-22767210-A-G c.167A>G p.Q56R Missense 2/5 - 1
7-22767211-A-C c.168A>C p.Q56H Missense 2/5 - 1
7-22767211-A-G c.168A>G p.Q56= Synonymous 2/5 - 1
7-22767211-A-T c.168A>T p.Q56H Missense 2/5 - 1
7-22767212-AT-GC c.169_170delinsGC p.I57A Missense 2/5 - 1
7-22767212-AT-A c.171del p.R58Gfs*10 Frameshift 2/5 - 1
7-22767215-C-T c.172C>T p.R58W Missense 2/5 - 6
7-22767216-G-A c.173G>A p.R58Q Missense 2/5 - 5
7-22767216-G-C c.173G>C p.R58P Missense 2/5 - 1
7-22767216-GG-AT c.173_174delinsAT p.R58H Missense 2/5 - 1
7-22767217-G-C c.174G>C p.R58= Synonymous 2/5 - 1
7-22767218-TA-GC c.175_176delinsGC p.Y59A Missense 2/5 - 1
7-22767218-T-C c.175T>C p.Y59H Missense 2/5 - 1
7-22767219-A-G c.176A>G p.Y59C Missense 2/5 - 2
7-22767221-A-G c.178A>G p.I60V Missense 2/5 - 1
7-22767222-T-A c.179T>A p.I60N Missense 2/5 - 4
7-22767222-T-C c.179T>C p.I60T Missense 2/5 - 1
7-22767223-C-T c.180C>T p.I60= Synonymous 2/5 - 1
7-22767225-T-G c.182T>G p.L61R Missense 2/5 - 1
7-22767226-C-A c.183C>A p.L61= Synonymous 2/5 - 2
7-22767226-C-G c.183C>G p.L61= Synonymous 2/5 - 2
7-22767226-C-T c.183C>T p.L61= Synonymous 2/5 - 7
7-22767227-G-A c.184G>A p.D62N Missense 2/5 - 8
7-22767227-GAC-AAG c.184_186delinsAAG p.D62K Missense 2/5 - 1
7-22767227-GA-CC c.184_185delinsCC p.D62P Missense 2/5 - 1
7-22767227-GA-CT c.184_185delinsCT p.D62L Missense 2/5 - 8
7-22767227-GA-TT c.184_185delinsTT p.D62F Missense 2/5 - 1
7-22767228-A-G c.185A>G p.D62G Missense 2/5 - 1
7-22767229-C-A c.186C>A p.D62E Missense 2/5 - 1
7-22767229-C-G c.186C>G p.D62E Missense 2/5 - 1
7-22767229-C-T c.186C>T p.D62= Synonymous 2/5 - 2
7-22767230-G-A c.187G>A p.G63S Missense 2/5 - 5
7-22767230-G-C c.187G>C p.G63R Missense 2/5 - 1
7-22767230-GG-AC c.187_188delinsAC p.G63T Missense 2/5 - 1
7-22767230-G-T c.187G>T p.G63C Missense 2/5 - 6
7-22767231-G-A c.188G>A p.G63D Missense 2/5 - 2
7-22767231-G-T c.188G>T p.G63V Missense 2/5 - 1
7-22767232-C-G c.189C>G p.G63= Synonymous 2/5 - 1
7-22767233-A-C c.190A>C p.I64L Missense 2/5 - 1
7-22767233-ATC-TAA c.190_192delinsTAA p.I64* Nonsense 2/5 - 1
7-22767234-T-C c.191T>C p.I64T Missense 2/5 - 2
7-22767235-C-G c.192C>G p.I64M Missense 2/5 - 1
7-22767236-T-A c.193T>A p.S65T Missense 2/5 - 6
7-22767236-TCA-AAC c.193_195delinsAAC p.S65N Missense 2/5 - 2
7-22767236-TCA-GAC c.193_195delinsGAC p.S65D Missense 2/5 - 1
7-22767236-T-G c.193T>G p.S65A Missense 2/5 - 3
7-22767237-C-A c.194C>A p.S65* Nonsense 2/5 - 1
7-22767237-CA-GT c.194_195delinsGT p.S65C Missense 2/5 - 1
7-22767237-C-G c.194C>G p.S65* Nonsense 2/5 - 1
7-22767237-C-T c.194C>T p.S65L Missense 2/5 - 9
7-22767238-A-G c.195A>G p.S65= Synonymous 2/5 - 1
7-22767239-G-A c.196G>A p.A66T Missense 2/5 - 1
7-22767239-GC-TG c.196_197delinsTG p.A66C Missense 2/5 - 3
7-22767239-GC-TT c.196_197delinsTT p.A66F Missense 2/5 - 5
7-22767240-C-A c.197C>A p.A66D Missense 2/5 - 8
7-22767240-CC-AG c.197_198delinsAG p.A66E Missense 2/5 - 2
7-22767240-C-G c.197C>G p.A66G Missense 2/5 - 19
7-22767240-C-T c.197C>T p.A66V Missense 2/5 - 1
7-22767241-C-A c.198C>A p.A66= Synonymous 2/5 - 2
7-22767241-C-G c.198C>G p.A66= Synonymous 2/5 - 3
7-22767241-C-T c.198C>T p.A66= Synonymous 2/5 - 2
7-22767242-C-CCAT c.199_200insCAT p.A66_L67insP InFrameInsertion 2/5 - 1
7-22767242-C-CCTG c.199_200insCTG p.L67delinsPV MultiAAMissense 2/5 - 1
7-22767242-CT-GC c.199_200delinsGC p.L67A Missense 2/5 - 2
7-22767242-CTG-TTT c.199_201delinsTTT p.L67F Missense 2/5 - 2
7-22767242-CT-TC c.199_200delinsTC p.L67S Missense 2/5 - 1
7-22767241-CCTGAGAAAGGAGGTGGGTAGGCTTGGCGATGGGGTTGAAGGGCCCGGTGCGCATGCGTT-C c.200_210+48del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/5 2/4 1
7-22767243-T-C c.200T>C p.L67P Missense 2/5 - 1
7-22767243-TG-AT c.200_201delinsAT p.L67H Missense 2/5 - 2
7-22767242-C-T c.199C>T p.L67= Synonymous 2/5 - 1
7-22767245-AGA-CAT c.202_204delinsCAT p.R68H Missense 2/5 - 1
7-22767245-AG-GA c.202_203delinsGA p.R68E Missense 2/5 - 1
7-22767245-AG-GC c.202_203delinsGC p.R68A Missense 2/5 - 2
7-22767245-A-T c.202A>T p.R68* Nonsense 2/5 - 2
7-22767245-GAGAAAGGAGGTGGGTAGGCTTGGCGATGGGGTTGAAGGGCCCGGTGCGCATGCGTTCCC-G c.202_210+50del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/5 2/4 1
7-22767246-G-A c.203G>A p.R68K Missense 2/5 - 1
7-22767248-AA-GC c.205_206delinsGC p.K69A Missense 2/5 - 2
7-22767248-A-C c.205A>C p.K69Q Missense 2/5 - 1
7-22767248-A-G c.205A>G p.K69E Missense 2/5 - 1
7-22767249-A-G c.206A>G p.K69R Missense 2/5 - 4
7-22767249-A-T c.206A>T p.K69M Missense 2/5 - 2
7-22767250-G-A c.207G>A p.K69= Synonymous 2/5 - 1
7-22767251-G-A c.208G>A p.E70K Missense 2/5 - 1
7-22767251-GA-AG c.208_209delinsAG p.E70R Missense 2/5 - 1
7-22767251-GAG-CAT c.208_210delinsCAT p.E70H Missense 2/5 - 1
7-22767251-GAG-TGT c.208_210delinsTGT p.E70C Missense 2/5 - 2
7-22767251-GAG-TTT c.208_210delinsTTT p.E70F Missense 2/5 - 1
7-22767251-GA-TC c.208_209inv p.E70S Missense 2/5 - 1
7-22767251-G-C c.208G>C p.E70Q Missense 2/5 - 1
7-22767252-A-C c.209A>C p.E70A Missense 2/5 - 3
7-22767252-A-T c.209A>T p.E70V Missense 2/5 - 1
7-22767253-AGGTGGGTAGGCTTGGCGATGGGGTTGAAGGGCCCGGTGCGCATGCGTTCCCCTTGCCCC-A c.210_210+58del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/5 2/4 1
7-22767253-G-A c.210G>A p.E70= Synonymous 2/5 - 1
7-22767252-A-AG c.210+1dup - SpliceDonorInsertion - 2/4 1
7-22767252-AGGTGG-A c.210+1_210+5del - SpliceDonorDeletion - 2/4 1
7-22767260-TAGGCTTG-T c.210+7_210+13del - IntronicDeletion - 2/4 1
7-22767264-T-C c.210+11T>C - IntronicSNV - 2/4 1
7-22767292-G-A c.210+39G>A - IntronicSNV - 2/4 1
7-22767292-G-C c.210+39G>C - IntronicSNV - 2/4 1
7-22767292-G-T c.210+39G>T - IntronicSNV - 2/4 1
7-22767322-C-T c.210+69C>T - IntronicSNV - 2/4 2
7-22767325-G-A c.210+72G>A - IntronicSNV - 2/4 1
7-22767433-A-G c.210+180A>G - IntronicSNV - 2/4 49
7-22767433-A-T c.210+180A>T - IntronicSNV - 2/4 48
7-22767664-C-G c.210+411C>G - IntronicSNV - 2/4 12
7-22767664-C-T c.210+411C>T - IntronicSNV - 2/4 12
7-22767828-C-G c.211-484C>G - IntronicSNV - 2/4 1
7-22767828-C-T c.211-484C>T - IntronicSNV - 2/4 1
7-22767871-T-C c.211-441T>C - IntronicSNV - 2/4 27
7-22767908-C-G c.211-404C>G - IntronicSNV - 2/4 16
7-22768018-G-T c.211-294G>T - IntronicSNV - 2/4 1
7-22768027-A-C c.211-285A>C - IntronicSNV - 2/4 108
7-22768027-A-G c.211-285A>G - IntronicSNV - 2/4 108
7-22768124-C-A c.211-188C>A - IntronicSNV - 2/4 28
7-22768219-C-T c.211-93C>T - IntronicSNV - 2/4 46
7-22768249-G-T c.211-63G>T - IntronicSNV - 2/4 48
7-22768312-ACA-GAC c.211_213delinsGAC p.T71D Missense 3/5 - 1
7-22768312-AC-GT c.211_212inv p.T71V Missense 3/5 - 1
7-22768313-C-A c.212C>A p.T71K Missense 3/5 - 1
7-22768313-C-T c.212C>T p.T71I Missense 3/5 - 1
7-22768314-A-G c.213A>G p.T71= Synonymous 3/5 - 1
7-22768315-T-A c.214T>A p.C72S Missense 3/5 - 1
7-22768315-T-C c.214T>C p.C72R Missense 3/5 - 1
7-22768315-T-G c.214T>G p.C72G Missense 3/5 - 2
7-22768315-TG-CA c.214_215inv p.C72H Missense 3/5 - 1
7-22768315-TG-GA c.214_215delinsGA p.C72D Missense 3/5 - 1
7-22768316-G-A c.215G>A p.C72Y Missense 3/5 - 1
7-22768316-G-C c.215G>C p.C72S Missense 3/5 - 1
7-22768316-G-T c.215G>T p.C72F Missense 3/5 - 1
7-22768317-T-C c.216T>C p.C72= Synonymous 3/5 - 2
7-22768317-TAACAAGAGTA-T c.218_227del p.N73Tfs*15 Frameshift 3/5 - 1
7-22768322-A-G c.221A>G p.K74R Missense 3/5 - 1
7-22768323-G-A c.222G>A p.K74= Synonymous 3/5 - 1
7-22768323-G-C c.222G>C p.K74N Missense 3/5 - 4
7-22768323-G-T c.222G>T p.K74N Missense 3/5 - 2
7-22768324-AG-GC c.223_224delinsGC p.S75A Missense 3/5 - 1
7-22768325-G-A c.224G>A p.S75N Missense 3/5 - 1
7-22768326-T-C c.225T>C p.S75= Synonymous 3/5 - 1
7-22768328-A-G c.227A>G p.N76S Missense 3/5 - 6
7-22768331-T-C c.230T>C p.M77T Missense 3/5 - 3
7-22768332-G-C c.231G>C p.M77I Missense 3/5 - 2
7-22768333-T-A c.232T>A p.C78S Missense 3/5 - 1
7-22768333-T-C c.232T>C p.C78R Missense 3/5 - 1
7-22768333-TG-GA c.232_233delinsGA p.C78D Missense 3/5 - 1
7-22768333-TG-GC c.232_233delinsGC p.C78A Missense 3/5 - 1
7-22768334-G-C c.233G>C p.C78S Missense 3/5 - 1
7-22768334-G-T c.233G>T p.C78F Missense 3/5 - 5
7-22768335-T-A c.234T>A p.C78* Nonsense 3/5 - 1
7-22768336-G-A c.235G>A p.E79K Missense 3/5 - 4
7-22768336-GAA-TTT c.235_237delinsTTT p.E79F Missense 3/5 - 1
7-22768336-G-C c.235G>C p.E79Q Missense 3/5 - 4
7-22768336-G-T c.235G>T p.E79* Nonsense 3/5 - 1
7-22768337-A-C c.236A>C p.E79A Missense 3/5 - 1
7-22768339-A-G c.238A>G p.S80G Missense 3/5 - 1
7-22768339-AG-CC c.238_239delinsCC p.S80P Missense 3/5 - 1
7-22768339-AGC-TGA c.238_240delinsTGA p.S80* Nonsense 3/5 - 1
7-22768339-AG-GC c.238_239delinsGC p.S80A Missense 3/5 - 2
7-22768339-AG-TT c.238_239delinsTT p.S80F Missense 3/5 - 1
7-22768339-A-C c.238A>C p.S80R Missense 3/5 - 1
7-22768341-C-A c.240C>A p.S80R Missense 3/5 - 1
7-22768341-C-G c.240C>G p.S80R Missense 3/5 - 1
7-22768341-C-T c.240C>T p.S80= Synonymous 3/5 - 1
7-22768342-AG-CT c.241_242inv p.S81L Missense 3/5 - 1
7-22768342-AGC-TGG c.241_243delinsTGG p.S81W Missense 3/5 - 1
7-22768342-AG-GA c.241_242delinsGA p.S81D Missense 3/5 - 1
7-22768342-AG-GC c.241_242delinsGC p.S81A Missense 3/5 - 2
7-22768344-C-G c.243C>G p.S81R Missense 3/5 - 1
7-22768344-C-T c.243C>T p.S81= Synonymous 3/5 - 1
7-22768345-A-C c.244A>C p.K82Q Missense 3/5 - 1
7-22768345-A-T c.244A>T p.K82* Nonsense 3/5 - 1
7-22768346-AA-GC c.245_246delinsGC p.K82S Missense 3/5 - 1
7-22768346-A-G c.245A>G p.K82R Missense 3/5 - 3
7-22768344-C-CA c.246dup p.E83Rfs*15 Frameshift 3/5 - 1
7-22768347-A-C c.246A>C p.K82N Missense 3/5 - 2
7-22768347-A-T c.246A>T p.K82N Missense 3/5 - 1
7-22768348-G-A c.247G>A p.E83K Missense 3/5 - 1
7-22768348-GA-AG c.247_248delinsAG p.E83R Missense 3/5 - 1
7-22768348-GAG-TGT c.247_249delinsTGT p.E83C Missense 3/5 - 1
7-22768348-GAG-TTT c.247_249delinsTTT p.E83F Missense 3/5 - 2
7-22768350-G-A c.249G>A p.E83= Synonymous 3/5 - 3
7-22768350-G-C c.249G>C p.E83D Missense 3/5 - 4
7-22768350-G-T c.249G>T p.E83D Missense 3/5 - 4
7-22768351-G-A c.250G>A p.A84T Missense 3/5 - 1
7-22768351-GCA-ATG c.250_252delinsATG p.A84M Missense 3/5 - 1
7-22768351-GCA-CAT c.250_252delinsCAT p.A84H Missense 3/5 - 1
7-22768351-GC-AG c.250_251delinsAG p.A84R Missense 3/5 - 1
7-22768351-GC-AT c.250_251delinsAT p.A84I Missense 3/5 - 1
7-22768351-GCA-TGT c.250_252delinsTGT p.A84C Missense 3/5 - 3
7-22768351-GCA-TTT c.250_252delinsTTT p.A84F Missense 3/5 - 7
7-22768351-GC-CA c.250_251delinsCA p.A84Q Missense 3/5 - 1
7-22768351-GC-CT c.250_251delinsCT p.A84L Missense 3/5 - 1
7-22768351-G-T c.250G>T p.A84S Missense 3/5 - 1
7-22768352-C-A c.251C>A p.A84E Missense 3/5 - 8
7-22768352-CA-AC c.251_252delinsAC p.A84D Missense 3/5 - 3
7-22768352-C-G c.251C>G p.A84G Missense 3/5 - 1
7-22768352-C-T c.251C>T p.A84V Missense 3/5 - 2
7-22768353-A-C c.252A>C p.A84= Synonymous 3/5 - 3
7-22768353-A-G c.252A>G p.A84= Synonymous 3/5 - 4
7-22768353-A-T c.252A>T p.A84= Synonymous 3/5 - 3
7-22768354-C-T c.253C>T p.L85= Synonymous 3/5 - 1
7-22768355-T-C c.254T>C p.L85P Missense 3/5 - 1
7-22768357-GC-AA c.256_257delinsAA p.A86K Missense 3/5 - 1
7-22768357-GCA-ATG c.256_258delinsATG p.A86M Missense 3/5 - 1
7-22768357-GCA-TGT c.256_258delinsTGT p.A86C Missense 3/5 - 1
7-22768357-GCA-TTT c.256_258delinsTTT p.A86F Missense 3/5 - 5
7-22768357-GC-TA c.256_257delinsTA p.A86* Nonsense 3/5 - 1
7-22768358-C-A c.257C>A p.A86E Missense 3/5 - 1
7-22768358-CA-AC c.257_258delinsAC p.A86D Missense 3/5 - 3
7-22768359-A-C c.258A>C p.A86= Synonymous 3/5 - 2
7-22768359-A-G c.258A>G p.A86= Synonymous 3/5 - 2
7-22768359-A-T c.258A>T p.A86= Synonymous 3/5 - 2
7-22768360-G-A c.259G>A p.E87K Missense 3/5 - 2
7-22768360-GAA-TGT c.259_261delinsTGT p.E87C Missense 3/5 - 1
7-22768360-GAA-TTT c.259_261delinsTTT p.E87F Missense 3/5 - 1
7-22768360-G-T c.259G>T p.E87* Nonsense 3/5 - 2
7-22768363-A-G c.262A>G p.N88D Missense 3/5 - 1
7-22768364-AC-GG c.263_264delinsGG p.N88R Missense 3/5 - 2
7-22768364-A-G c.263A>G p.N88S Missense 3/5 - 6
7-22768366-AAC-CAA c.265_267delinsCAA p.N89Q Missense 3/5 - 1
7-22768366-A-T c.265A>T p.N89Y Missense 3/5 - 1
7-22768367-A-G c.266A>G p.N89S Missense 3/5 - 1
7-22768368-C-A c.267C>A p.N89K Missense 3/5 - 1
7-22768368-C-G c.267C>G p.N89K Missense 3/5 - 1
7-22768369-C-A c.268C>A p.L90M Missense 3/5 - 1
7-22768369-C-T c.268C>T p.L90= Synonymous 3/5 - 2
7-22768372-A-C c.271A>C p.N91H Missense 3/5 - 1
7-22768373-A-G c.272A>G p.N91S Missense 3/5 - 1
7-22768373-A-T c.272A>T p.N91I Missense 3/5 - 1
7-22768375-CT-AG c.274_275inv p.L92S Missense 3/5 - 1
7-22768374-CCTT-C c.275_277del p.L92del InFrameDeletion 3/5 - 1
7-22768376-T-C c.275T>C p.L92P Missense 3/5 - 1
7-22768377-T-A c.276T>A p.L92= Synonymous 3/5 - 1
7-22768377-T-C c.276T>C p.L92= Synonymous 3/5 - 1
7-22768377-T-G c.276T>G p.L92= Synonymous 3/5 - 1
7-22768378-CC-TA c.277_278delinsTA p.P93* Nonsense 3/5 - 1
7-22768378-C-G c.277C>G p.P93A Missense 3/5 - 1
7-22768378-C-T c.277C>T p.P93S Missense 3/5 - 1
7-22768380-A-G c.279A>G p.P93= Synonymous 3/5 - 1
7-22768381-AA-GC c.280_281delinsGC p.K94A Missense 3/5 - 1
7-22768383-G-C c.282G>C p.K94N Missense 3/5 - 1
7-22768384-AT-GC c.283_284delinsGC p.M95A Missense 3/5 - 1
7-22768387-G-A c.286G>A p.A96T Missense 3/5 - 2
7-22768387-GC-TG c.286_287delinsTG p.A96C Missense 3/5 - 4
7-22768387-GC-TT c.286_287delinsTT p.A96F Missense 3/5 - 3
7-22768388-C-A c.287C>A p.A96D Missense 3/5 - 4
7-22768388-CT-AG c.287_288inv p.A96E Missense 3/5 - 4
7-22768389-T-A c.288T>A p.A96= Synonymous 3/5 - 6
7-22768389-T-C c.288T>C p.A96= Synonymous 3/5 - 6
7-22768389-T-G c.288T>G p.A96= Synonymous 3/5 - 5
7-22768390-G-A c.289G>A p.E97K Missense 3/5 - 1
7-22768390-G-T c.289G>T p.E97* Nonsense 3/5 - 1
7-22768391-A-C c.290A>C p.E97A Missense 3/5 - 1
7-22768392-A-C c.291A>C p.E97D Missense 3/5 - 1
7-22768392-A-T c.291A>T p.E97D Missense 3/5 - 1
7-22768393-AA-GC c.292_293delinsGC p.K98A Missense 3/5 - 2
7-22768393-A-G c.292A>G p.K98E Missense 3/5 - 1
7-22768395-A-C c.294A>C p.K98N Missense 3/5 - 1
7-22768395-A-T c.294A>T p.K98N Missense 3/5 - 1
7-22768397-A-C c.296A>C p.D99A Missense 3/5 - 2
7-22768397-A-G c.296A>G p.D99G Missense 3/5 - 2
7-22768398-T-A c.297T>A p.D99E Missense 3/5 - 1
7-22768398-T-G c.297T>G p.D99E Missense 3/5 - 1
7-22768399-G-A c.298G>A p.G100R Missense 3/5 - 1
7-22768399-G-C c.298G>C p.G100R Missense 3/5 - 1
7-22768399-GG-CT c.298_299delinsCT p.G100L Missense 3/5 - 1
7-22768399-G-T c.298G>T p.G100* Nonsense 3/5 - 1
7-22768400-G-A c.299G>A p.G100E Missense 3/5 - 1
7-22768400-GA-AC c.299_300delinsAC p.G100D Missense 3/5 - 1
7-22768400-G-C c.299G>C p.G100A Missense 3/5 - 1
7-22768402-T-A c.301T>A p.C101S Missense 3/5 - 1
7-22768402-TG-GC c.301_302delinsGC p.C101A Missense 3/5 - 4
7-22768403-G-C c.302G>C p.C101S Missense 3/5 - 1
7-22768403-G-A c.302G>A p.C101Y Missense 3/5 - 1
7-22768403-G-T c.302G>T p.C101F Missense 3/5 - 1
7-22768404-C-A c.303C>A p.C101* Nonsense 3/5 - 1
7-22768405-TT-AA c.304_305inv p.F102N Missense 3/5 - 1
7-22768406-T-G c.305T>G p.F102C Missense 3/5 - 1
7-22768408-C-A c.307C>A p.Q103K Missense 3/5 - 1
7-22768408-CAA-TAT c.307_309delinsTAT p.Q103Y Missense 3/5 - 1
7-22768409-A-G c.308A>G p.Q103R Missense 3/5 - 1
7-22768410-A-C c.309A>C p.Q103H Missense 3/5 - 1
7-22768410-A-T c.309A>T p.Q103H Missense 3/5 - 1
7-22768412-C-G c.311C>G p.S104C Missense 3/5 - 1
7-22768412-C-T c.311C>T p.S104F Missense 3/5 - 1
7-22768414-GGA-TTT c.313_315delinsTTT p.G105F Missense 3/5 - 1
7-22768415-G-C c.314G>C p.G105A Missense 3/5 - 1
7-22768417-T-G c.316T>G p.F106V Missense 3/5 - 1
7-22768417-TT-GC c.316_317delinsGC p.F106A Missense 3/5 - 1
7-22768418-T-C c.317T>C p.F106S Missense 3/5 - 1
7-22768418-T-G c.317T>G p.F106C Missense 3/5 - 1
7-22768419-C-T c.318C>T p.F106= Synonymous 3/5 - 3
7-22768420-AA-TG c.319_320delinsTG p.N107C Missense 3/5 - 3
7-22768421-A-G c.320A>G p.N107S Missense 3/5 - 2
7-22768422-T-C c.321T>C p.N107= Synonymous 3/5 - 1
7-22768422-T-G c.321T>G p.N107K Missense 3/5 - 1
7-22768423-G-A c.322G>A p.E108K Missense 3/5 - 1
7-22768423-G-T c.322G>T p.E108* Nonsense 3/5 - 1
7-22768424-GA-G c.323del p.E108Gfs*6 Frameshift 3/5 - 1
7-22768479-C-T c.324+54C>T - IntronicSNV - 3/4 6
7-22768495-G-A c.324+70G>A - IntronicSNV - 3/4 1
7-22768531-T-C c.324+106T>C - IntronicSNV - 3/4 1
7-22768531-T-G c.324+106T>G - IntronicSNV - 3/4 1
7-22768550-G-C c.324+125G>C - IntronicSNV - 3/4 1
7-22768572-C-G c.324+147C>G - IntronicSNV - 3/4 96
7-22768685-G-T c.324+260G>T - IntronicSNV - 3/4 1
7-22768707-T-A c.324+282T>A - IntronicSNV - 3/4 62
7-22768707-T-G c.324+282T>G - IntronicSNV - 3/4 65
7-22768914-G-A c.325-219G>A - IntronicSNV - 3/4 2
7-22768980-T-G c.325-153T>G - IntronicSNV - 3/4 1
7-22769082-T-C c.325-51T>C - IntronicSNV - 3/4 1
7-22769131-AG-A c.325del p.E109Rfs*5 Frameshift 4/5 - 1
7-22769133-G-A c.325G>A p.E109K Missense 4/5 - 1
7-22769133-GA-AC c.325_326delinsAC p.E109T Missense 4/5 - 1
7-22769133-GAG-TGT c.325_327delinsTGT p.E109C Missense 4/5 - 1
7-22769133-G-C c.325G>C p.E109Q Missense 4/5 - 1
7-22769134-A-C c.326A>C p.E109A Missense 4/5 - 2
7-22769134-A-G c.326A>G p.E109G Missense 4/5 - 1
7-22769135-G-A c.327G>A p.E109= Synonymous 4/5 - 2
7-22769135-G-C c.327G>C p.E109D Missense 4/5 - 1
7-22769136-A-G c.328A>G p.T110A Missense 4/5 - 3
7-22769137-C-T c.329C>T p.T110I Missense 4/5 - 1
7-22769137-C-CTA c.330_331insAT p.C111Ifs*4 Frameshift 4/5 - 9
7-22769138-T-C c.330T>C p.T110= Synonymous 4/5 - 1
7-22769139-T-A c.331T>A p.C111S Missense 4/5 - 4
7-22769139-TG-GC c.331_332delinsGC p.C111A Missense 4/5 - 4
7-22769140-G-C c.332G>C p.C111S Missense 4/5 - 4
7-22769140-G-A c.332G>A p.C111Y Missense 4/5 - 1
7-22769142-C-A c.334C>A p.L112M Missense 4/5 - 2
7-22769144-G-A c.336G>A p.L112= Synonymous 4/5 - 1
7-22769144-G-GC c.336_337insC p.V113Rfs*11 Frameshift 4/5 - 1
7-22769145-GT-TC c.337_338delinsTC p.V113S Missense 4/5 - 1
7-22769146-T-C c.338T>C p.V113A Missense 4/5 - 1
7-22769148-A-G c.340A>G p.K114E Missense 4/5 - 1
7-22769147-GA-G c.343del p.I115Sfs*12 Frameshift 4/5 - 1
7-22769152-T-G c.344T>G p.I115S Missense 4/5 - 1
7-22769154-A-C c.346A>C p.I116L Missense 4/5 - 1
7-22769154-A-G c.346A>G p.I116V Missense 4/5 - 1
7-22769154-A-T c.346A>T p.I116F Missense 4/5 - 4
7-22769155-T-G c.347T>G p.I116S Missense 4/5 - 1
7-22769156-C-A c.348C>A p.I116= Synonymous 4/5 - 1
7-22769156-C-T c.348C>T p.I116= Synonymous 4/5 - 1
7-22769157-A-C c.349A>C p.T117P Missense 4/5 - 1
7-22769157-A-G c.349A>G p.T117A Missense 4/5 - 1
7-22769158-CT-TG c.350_351delinsTG p.T117M Missense 4/5 - 1
7-22769160-G-C c.352G>C p.G118R Missense 4/5 - 3
7-22769161-G-A c.353G>A p.G118D Missense 4/5 - 1
7-22769161-G-C c.353G>C p.G118A Missense 4/5 - 1
7-22769162-T-G c.354T>G p.G118= Synonymous 4/5 - 1
7-22769163-C-G c.355C>G p.L119V Missense 4/5 - 1
7-22769164-T-C c.356T>C p.L119P Missense 4/5 - 3
7-22769166-TT-CC c.358_359delinsCC p.L120P Missense 4/5 - 1
7-22769167-T-A c.359T>A p.L120* Nonsense 4/5 - 1
7-22769167-TG-GT c.359_360delinsGT p.L120C Missense 4/5 - 25
7-22769169-G-A c.361G>A p.E121K Missense 4/5 - 1
7-22769170-A-T c.362A>T p.E121V Missense 4/5 - 1
7-22769172-TT-GC c.364_365delinsGC p.F122A Missense 4/5 - 1
7-22769173-T-G c.365T>G p.F122C Missense 4/5 - 3
7-22769175-G-T c.367G>T p.E123* Nonsense 4/5 - 1
7-22769176-A-C c.368A>C p.E123A Missense 4/5 - 2
7-22769176-A-G c.368A>G p.E123G Missense 4/5 - 1
7-22769177-G-C c.369G>C p.E123D Missense 4/5 - 1
7-22769177-G-T c.369G>T p.E123D Missense 4/5 - 1
7-22769181-T-C c.373T>C p.Y125H Missense 4/5 - 1
7-22769181-T-G c.373T>G p.Y125D Missense 4/5 - 1
7-22769182-A-T c.374A>T p.Y125F Missense 4/5 - 3
7-22769184-CCTA-C c.376_378del p.L126del InFrameDeletion 4/5 - 1
7-22769184-C-G c.376C>G p.L126V Missense 4/5 - 1
7-22769184-CT-TA c.376_377delinsTA p.L126* Nonsense 4/5 - 2
7-22769184-CT-TC c.376_377delinsTC p.L126S Missense 4/5 - 1
7-22769187-G-A c.379G>A p.E127K Missense 4/5 - 1
7-22769187-G-T c.379G>T p.E127* Nonsense 4/5 - 2
7-22769188-A-G c.380A>G p.E127G Missense 4/5 - 3
7-22769188-A-T c.380A>T p.E127V Missense 4/5 - 4
7-22769189-AG-A c.381del p.E127Dfs*19 Frameshift 4/5 - 1
7-22769189-G-C c.381G>C p.E127D Missense 4/5 - 1
7-22769189-G-T c.381G>T p.E127D Missense 4/5 - 1
7-22769190-TA-GC c.382_383delinsGC p.Y128A Missense 4/5 - 1
7-22769191-A-T c.383A>T p.Y128F Missense 4/5 - 1
7-22769196-C-G c.388C>G p.Q130E Missense 4/5 - 1
7-22769196-C-T c.388C>T p.Q130* Nonsense 4/5 - 1
7-22769198-G-A c.390G>A p.Q130= Synonymous 4/5 - 2
7-22769201-C-A c.393C>A p.N131K Missense 4/5 - 1
7-22769201-C-G c.393C>G p.N131K Missense 4/5 - 1
7-22769201-C-T c.393C>T p.N131= Synonymous 4/5 - 1
7-22769202-AGA-CAT c.394_396delinsCAT p.R132H Missense 4/5 - 22
7-22769202-AGA-TGT c.394_396delinsTGT p.R132C Missense 4/5 - 3
7-22769202-AG-GC c.394_395delinsGC p.R132A Missense 4/5 - 1
7-22769203-G-T c.395G>T p.R132I Missense 4/5 - 2
7-22769205-T-C c.397T>C p.F133L Missense 4/5 - 1
7-22769205-T-G c.397T>G p.F133V Missense 4/5 - 1
7-22769206-T-C c.398T>C p.F133S Missense 4/5 - 1
7-22769207-T-C c.399T>C p.F133= Synonymous 4/5 - 1
7-22769208-G-C c.400G>C p.E134Q Missense 4/5 - 1
7-22769209-A-C c.401A>C p.E134A Missense 4/5 - 1
7-22769210-G-C c.402G>C p.E134D Missense 4/5 - 1
7-22769210-G-T c.402G>T p.E134D Missense 4/5 - 1
7-22769211-A-C c.403A>C p.S135R Missense 4/5 - 4
7-22769211-A-G c.403A>G p.S135G Missense 4/5 - 1
7-22769211-AG-CT c.403_404inv p.S135L Missense 4/5 - 1
7-22769211-AG-GA c.403_404delinsGA p.S135D Missense 4/5 - 1
7-22769211-AG-GC c.403_404delinsGC p.S135A Missense 4/5 - 3
7-22769211-AG-TT c.403_404delinsTT p.S135F Missense 4/5 - 1
7-22769212-G-C c.404G>C p.S135T Missense 4/5 - 1
7-22769213-T-A c.405T>A p.S135R Missense 4/5 - 3
7-22769213-T-G c.405T>G p.S135R Missense 4/5 - 3
7-22769214-AG-GC c.406_407delinsGC p.S136A Missense 4/5 - 1
7-22769214-AG-TT c.406_407delinsTT p.S136F Missense 4/5 - 1
7-22769217-G-A c.409G>A p.E137K Missense 4/5 - 3
7-22769220-G-A c.412G>A p.E138K Missense 4/5 - 4
7-22769220-G-C c.412G>C p.E138Q Missense 4/5 - 1
7-22769221-A-C c.413A>C p.E138A Missense 4/5 - 4
7-22769221-A-G c.413A>G p.E138G Missense 4/5 - 1
7-22769223-CA-GC c.415_416delinsGC p.Q139A Missense 4/5 - 1
7-22769223-C-G c.415C>G p.Q139E Missense 4/5 - 1
7-22769224-A-G c.416A>G p.Q139R Missense 4/5 - 1
7-22769225-A-AC c.417_418insC p.A140Rfs*29 Frameshift 4/5 - 1
7-22769226-G-T c.418G>T p.A140S Missense 4/5 - 1
7-22769227-C-A c.419C>A p.A140D Missense 4/5 - 3
7-22769227-C-G c.419C>G p.A140G Missense 4/5 - 6
7-22769227-C-T c.419C>T p.A140V Missense 4/5 - 1
7-22769228-C-T c.420C>T p.A140= Synonymous 4/5 - 1
7-22769229-AGA-TGG c.421_423delinsTGG p.R141W Missense 4/5 - 7
7-22769237-G-A c.429G>A p.V143= Synonymous 4/5 - 1
7-22769237-G-C c.429G>C p.V143= Synonymous 4/5 - 1
7-22769237-G-T c.429G>T p.V143= Synonymous 4/5 - 2
7-22769238-CAG-GT c.430_432delinsGT p.Q144Vfs*2 Frameshift 4/5 - 1
7-22769239-A-G c.431A>G p.Q144R Missense 4/5 - 1
7-22769240-G-T c.432G>T p.Q144H Missense 4/5 - 1
7-22769242-T-A c.434T>A p.M145K Missense 4/5 - 2
7-22769242-T-C c.434T>C p.M145T Missense 4/5 - 5
7-22769243-G-A c.435G>A p.M145I Missense 4/5 - 2
7-22769243-G-C c.435G>C p.M145I Missense 4/5 - 2
7-22769243-G-T c.435G>T p.M145I Missense 4/5 - 1
7-22769244-A-G c.436A>G p.S146G Missense 4/5 - 2
7-22769244-AG-GA c.436_437delinsGA p.S146D Missense 4/5 - 1
7-22769244-AG-GC c.436_437delinsGC p.S146A Missense 4/5 - 1
7-22769244-AGT-GAG c.436_438delinsGAG p.S146E Missense 4/5 - 1
7-22769247-A-G c.439A>G p.T147A Missense 4/5 - 1
7-22769248-CA-TG c.440_441inv p.T147M Missense 4/5 - 1
7-22769250-A-G c.442A>G p.K148E Missense 4/5 - 1
7-22769251-A-G c.443A>G p.K148R Missense 4/5 - 1
7-22769252-A-C c.444A>C p.K148N Missense 4/5 - 1
7-22769252-A-T c.444A>T p.K148N Missense 4/5 - 1
7-22769253-G-T c.445G>T p.V149F Missense 4/5 - 1
7-22769254-T-C c.446T>C p.V149A Missense 4/5 - 1
7-22769256-CT-GC c.448_449delinsGC p.L150A Missense 4/5 - 1
7-22769257-T-C c.449T>C p.L150P Missense 4/5 - 2
7-22769258-G-A c.450G>A p.L150= Synonymous 4/5 - 2
7-22769260-T-G c.452T>G p.I151S Missense 4/5 - 1
7-22769261-C-A c.453C>A p.I151= Synonymous 4/5 - 3
7-22769261-C-T c.453C>T p.I151= Synonymous 4/5 - 1
7-22769260-T-TC c.454dup p.Q152Pfs*17 Frameshift 4/5 - 1
7-22769262-CA-GC c.454_455delinsGC p.Q152A Missense 4/5 - 1
7-22769262-C-T c.454C>T p.Q152* Nonsense 4/5 - 1
7-22769264-G-C c.456G>C p.Q152H Missense 4/5 - 1
7-22769264-G-T c.456G>T p.Q152H Missense 4/5 - 1
7-22769265-TT-GC c.457_458delinsGC p.F153A Missense 4/5 - 1
7-22769266-T-C c.458T>C p.F153S Missense 4/5 - 1
7-22769268-C-G c.460C>G p.L154V Missense 4/5 - 1
7-22769270-G-A c.462G>A p.L154= Synonymous 4/5 - 3
7-22769274-A-G c.466A>G p.K156E Missense 4/5 - 4
7-22769275-A-C c.467A>C p.K156T Missense 4/5 - 1
7-22769277-AA-GC c.469_470delinsGC p.K157A Missense 4/5 - 1
7-22769278-A-G c.470A>G p.K157R Missense 4/5 - 1
7-22769299-C-A c.471+20C>A - IntronicSNV - 4/4 1
7-22769303-A-G c.471+24A>G - IntronicSNV - 4/4 1
7-22769310-G-A c.471+31G>A - IntronicSNV - 4/4 12
7-22769387-C-T c.471+108C>T - IntronicSNV - 4/4 1
7-22769388-G-A c.471+109G>A - IntronicSNV - 4/4 1
7-22769388-G-T c.471+109G>T - IntronicSNV - 4/4 1
7-22769448-T-G c.471+169T>G - IntronicSNV - 4/4 1
7-22769459-G-T c.471+180G>T - IntronicSNV - 4/4 1
7-22769773-G-C c.471+494G>C - IntronicSNV - 4/4 11
7-22769994-G-A c.471+715G>A - IntronicSNV - 4/4 10
7-22770010-C-A c.471+731C>A - IntronicSNV - 4/4 4
7-22770149-G-A c.471+870G>A - IntronicSNV - 4/4 63
7-22770608-G-A c.472-417G>A - IntronicSNV - 4/4 1
7-22770737-A-T c.472-288A>T - IntronicSNV - 4/4 1
7-22771026-C-A c.473C>A p.A158E Missense 5/5 - 1
7-22771026-C-T c.473C>T p.A158V Missense 5/5 - 1
7-22771026-GC-G c.473del p.A158Efs*4 Frameshift 5/5 - 1
7-22771028-AA-GC c.475_476delinsGC p.K159A Missense 5/5 - 3
7-22771029-A-G c.476A>G p.K159R Missense 5/5 - 1
7-22771030-G-A c.477G>A p.K159= Synonymous 5/5 - 1
7-22771030-G-C c.477G>C p.K159N Missense 5/5 - 2
7-22771030-G-T c.477G>T p.K159N Missense 5/5 - 2
7-22771031-AA-GT c.478_479delinsGT p.N160V Missense 5/5 - 1
7-22771033-T-C c.480T>C p.N160= Synonymous 5/5 - 1
7-22771032-ATC-A c.481_482del p.L161Rfs*7 Frameshift 5/5 - 1
7-22771034-C-G c.481C>G p.L161V Missense 5/5 - 1
7-22771034-C-T c.481C>T p.L161= Synonymous 5/5 - 1
7-22771034-CT-GG c.481_482delinsGG p.L161G Missense 5/5 - 1
7-22771035-T-A c.482T>A p.L161Q Missense 5/5 - 1
7-22771035-T-C c.482T>C p.L161P Missense 5/5 - 1
7-22771035-T-G c.482T>G p.L161R Missense 5/5 - 1
7-22771038-A-T c.485A>T p.D162V Missense 5/5 - 27
7-22771039-T-A c.486T>A p.D162E Missense 5/5 - 40
7-22771039-T-C c.486T>C p.D162= Synonymous 5/5 - 30
7-22771039-T-G c.486T>G p.D162E Missense 5/5 - 3
7-22771040-G-A c.487G>A p.A163T Missense 5/5 - 1
7-22771041-C-G c.488C>G p.A163G Missense 5/5 - 8
7-22771041-C-T c.488C>T p.A163V Missense 5/5 - 1
7-22771043-ATA-GAC c.490_492delinsGAC p.I164D Missense 5/5 - 1
7-22771043-AT-GA c.490_491delinsGA p.I164E Missense 5/5 - 1
7-22771044-T-C c.491T>C p.I164T Missense 5/5 - 3
7-22771045-A-C c.492A>C p.I164= Synonymous 5/5 - 1
7-22771045-A-T c.492A>T p.I164= Synonymous 5/5 - 1
7-22771046-A-C c.493A>C p.T165P Missense 5/5 - 1
7-22771046-A-G c.493A>G p.T165A Missense 5/5 - 1
7-22771047-C-T c.494C>T p.T165I Missense 5/5 - 1
7-22771046-ACCACC-A c.496_500del p.T166* Frameshift 5/5 - 1
7-22771049-CA-C c.496del p.T166Pfs*11 Frameshift 5/5 - 1
7-22771051-C-T c.498C>T p.T166= Synonymous 5/5 - 1
7-22771052-C-T c.499C>T p.P167S Missense 5/5 - 3
7-22771053-C-A c.500C>A p.P167H Missense 5/5 - 1
7-22771055-GA-TT c.502_503delinsTT p.D168F Missense 5/5 - 1
7-22771056-A-C c.503A>C p.D168A Missense 5/5 - 5
7-22771056-A-T c.503A>T p.D168V Missense 5/5 - 1
7-22771058-C-G c.505C>G p.P169A Missense 5/5 - 1
7-22771058-C-T c.505C>T p.P169S Missense 5/5 - 2
7-22771059-C-A c.506C>A p.P169Q Missense 5/5 - 1
7-22771061-A-G c.508A>G p.T170A Missense 5/5 - 1
7-22771063-C-T c.510C>T p.T170= Synonymous 5/5 - 1
7-22771064-A-G c.511A>G p.T171A Missense 5/5 - 2
7-22771066-A-G c.513A>G p.T171= Synonymous 5/5 - 1
7-22771067-AAT-CAA c.514_516delinsCAA p.N172Q Missense 5/5 - 1
7-22771071-C-A c.518C>A p.A173D Missense 5/5 - 1
7-22771071-C-G c.518C>G p.A173G Missense 5/5 - 1
7-22771071-C-T c.518C>T p.A173V Missense 5/5 - 1
7-22771070-G-GC c.519dup p.S174Qfs*26 Frameshift 5/5 - 1
7-22771073-A-C c.520A>C p.S174R Missense 5/5 - 1
7-22771075-C-A c.522C>A p.S174R Missense 5/5 - 2
7-22771075-C-G c.522C>G p.S174R Missense 5/5 - 1
7-22771076-C-G c.523C>G p.L175V Missense 5/5 - 1
7-22771076-C-T c.523C>T p.L175= Synonymous 5/5 - 1
7-22771076-CT-TC c.523_524delinsTC p.L175S Missense 5/5 - 1
7-22771077-T-C c.524T>C p.L175P Missense 5/5 - 1
7-22771079-C-G c.526C>G p.L176V Missense 5/5 - 2
7-22771079-C-T c.526C>T p.L176= Synonymous 5/5 - 1
7-22771079-CT-GC c.526_527delinsGC p.L176A Missense 5/5 - 2
7-22771080-T-C c.527T>C p.L176P Missense 5/5 - 1
7-22771082-A-G c.529A>G p.T177A Missense 5/5 - 4
7-22771083-C-T c.530C>T p.T177M Missense 5/5 - 2
7-22771085-AAG-TGT c.532_534delinsTGT p.K178C Missense 5/5 - 1
7-22771086-A-G c.533A>G p.K178R Missense 5/5 - 2
7-22771087-G-A c.534G>A p.K178= Synonymous 5/5 - 1
7-22771088-C-G c.535C>G p.L179V Missense 5/5 - 1
7-22771088-CTG-TTT c.535_537delinsTTT p.L179F Missense 5/5 - 1
7-22771090-G-A c.537G>A p.L179= Synonymous 5/5 - 1
7-22771092-A-G c.539A>G p.Q180R Missense 5/5 - 1
7-22771093-G-C c.540G>C p.Q180H Missense 5/5 - 1
7-22771093-G-T c.540G>T p.Q180H Missense 5/5 - 1
7-22771095-C-A c.542C>A p.A181E Missense 5/5 - 1
7-22771097-C-T c.544C>T p.Q182* Nonsense 5/5 - 1
7-22771098-A-C c.545A>C p.Q182P Missense 5/5 - 1
7-22771099-G-A c.546G>A p.Q182= Synonymous 5/5 - 1
7-22771099-G-C c.546G>C p.Q182H Missense 5/5 - 2
7-22771099-G-T c.546G>T p.Q182H Missense 5/5 - 2
7-22771104-A-C c.551A>C p.Q184P Missense 5/5 - 1
7-22771104-A-G c.551A>G p.Q184R Missense 5/5 - 1
7-22771106-T-C c.553T>C p.W185R Missense 5/5 - 1
7-22771106-TGG-GAC c.553_555delinsGAC p.W185D Missense 5/5 - 1
7-22771109-C-G c.556C>G p.L186V Missense 5/5 - 1
7-22771109-CT-GC c.556_557delinsGC p.L186A Missense 5/5 - 1
7-22771112-C-CG c.559_560insG p.Q187Rfs*13 Frameshift 5/5 - 1
7-22771118-A-C c.565A>C p.M189L Missense 5/5 - 1
7-22771119-ATG-A c.566_567del p.M189Nfs*10 Frameshift 5/5 - 1
7-22771120-G-C c.567G>C p.M189I Missense 5/5 - 1
7-22771120-G-GA c.568dup p.T190Nfs*10 Frameshift 5/5 - 1
7-22771121-A-T c.568A>T p.T190S Missense 5/5 - 1
7-22771122-C-T c.569C>T p.T190I Missense 5/5 - 3
7-22771124-A-G c.571A>G p.T191A Missense 5/5 - 1
7-22771125-C-CT c.573dup p.H192Sfs*8 Frameshift 5/5 - 1
7-22771126-T-G c.573T>G p.T191= Synonymous 5/5 - 1
7-22771127-CA-GC c.574_575delinsGC p.H192A Missense 5/5 - 1
7-22771127-C-T c.574C>T p.H192Y Missense 5/5 - 4
7-22771130-C-T c.577C>T p.L193F Missense 5/5 - 2
7-22771130-CT-GC c.577_578delinsGC p.L193A Missense 5/5 - 1
7-22771130-TC-T c.577del p.L193Sfs*14 Frameshift 5/5 - 1
7-22771133-A-C c.580A>C p.I194L Missense 5/5 - 1
7-22771133-A-G c.580A>G p.I194V Missense 5/5 - 1
7-22771135-T-G c.582T>G p.I194M Missense 5/5 - 1
7-22771136-CT-GG c.583_584delinsGG p.L195G Missense 5/5 - 1
7-22771136-CT-TC c.583_584delinsTC p.L195S Missense 5/5 - 1
7-22771136-C-T c.583C>T p.L195= Synonymous 5/5 - 3
7-22771138-G-A c.585G>A p.L195= Synonymous 5/5 - 3
7-22771138-G-C c.585G>C p.L195= Synonymous 5/5 - 2
7-22771138-G-T c.585G>T p.L195= Synonymous 5/5 - 2
7-22771139-C-T c.586C>T p.R196C Missense 5/5 - 7
7-22771140-G-A c.587G>A p.R196H Missense 5/5 - 4
7-22771140-GC-AA c.587_588delinsAA p.R196Q Missense 5/5 - 1
7-22771142-AG-CT c.589_590inv p.S197L Missense 5/5 - 2
7-22771142-AG-GC c.589_590delinsGC p.S197A Missense 5/5 - 4
7-22771143-G-A c.590G>A p.S197N Missense 5/5 - 1
7-22771143-G-T c.590G>T p.S197I Missense 5/5 - 1
7-22771144-C-T c.591C>T p.S197= Synonymous 5/5 - 1
7-22771145-TT-GC c.592_593delinsGC p.F198A Missense 5/5 - 1
7-22771146-T-C c.593T>C p.F198S Missense 5/5 - 1
7-22771147-T-C c.594T>C p.F198= Synonymous 5/5 - 1
7-22771149-A-G c.596A>G p.K199R Missense 5/5 - 1
7-22771150-G-A c.597G>A p.K199= Synonymous 5/5 - 1
7-22771151-G-A c.598G>A p.E200K Missense 5/5 - 2
7-22771152-A-G c.599A>G p.E200G Missense 5/5 - 1
7-22771152-GA-G c.599del p.E200Gfs*7 Frameshift 5/5 - 1
7-22771154-T-C c.601T>C p.F201L Missense 5/5 - 2
7-22771154-TT-CC c.601_602delinsCC p.F201P Missense 5/5 - 1
7-22771153-GT-G c.602del p.F201Sfs*6 Frameshift 5/5 - 1
7-22771156-C-G c.603C>G p.F201L Missense 5/5 - 49
7-22771156-C-T c.603C>T p.F201= Synonymous 5/5 - 56
7-22771157-C-A c.604C>A p.L202M Missense 5/5 - 1
7-22771157-C-G c.604C>G p.L202V Missense 5/5 - 1
7-22771157-C-T c.604C>T p.L202= Synonymous 5/5 - 1
7-22771160-C-T c.607C>T p.Q203* Nonsense 5/5 - 1
7-22771163-T-C c.610T>C p.S204P Missense 5/5 - 1
7-22771163-TC-CG c.610_611delinsCG p.S204R Missense 5/5 - 1
7-22771163-T-G c.610T>G p.S204A Missense 5/5 - 3
7-22771164-C-T c.611C>T p.S204F Missense 5/5 - 2
7-22771166-A-G c.613A>G p.S205G Missense 5/5 - 1
7-22771166-AG-GC c.613_614delinsGC p.S205A Missense 5/5 - 1
7-22771172-A-G c.619A>G p.R207G Missense 5/5 - 1
7-22771172-AGG-TGT c.619_621delinsTGT p.R207C Missense 5/5 - 1
7-22771172-A-T c.619A>T p.R207W Missense 5/5 - 3
7-22771173-G-A c.620G>A p.R207K Missense 5/5 - 1
7-22771175-G-A c.622G>A p.A208T Missense 5/5 - 1
7-22771175-G-T c.622G>T p.A208S Missense 5/5 - 2
7-22771176-C-A c.623C>A p.A208D Missense 5/5 - 1
7-22771176-C-G c.623C>G p.A208G Missense 5/5 - 1
7-22771178-C-A c.625C>A p.L209I Missense 5/5 - 1
7-22771181-CG-AA c.628_629delinsAA p.R210K Missense 5/5 - 1
7-22771181-CG-GC c.628_629delinsGC p.R210A Missense 5/5 - 1
7-22771182-G-A c.629G>A p.R210Q Missense 5/5 - 4
7-22771182-G-C c.629G>C p.R210P Missense 5/5 - 2
7-22771182-GG-AT c.629_630delinsAT p.R210H Missense 5/5 - 1
7-22771181-C-CG c.630dup p.Q211Afs*37 Frameshift 5/5 - 1
7-22771183-G-GTA c.630_631insTA p.Q211Yfs*13 Frameshift 5/5 - 1
7-22771186-A-G c.633A>G p.Q211= Synonymous 5/5 - 1
7-22771187-A-G c.634A>G p.M212V Missense 5/5 - 1
7-22771189-G-T c.636G>T p.M212I Missense 5/5 - 1
7-22771229-C-T c.*37C>T - 3-UTRSNV 5/5 - 3
7-22771255-C-T c.*63C>T - 3-UTRSNV 5/5 - 1
7-22771296-G-A c.*104G>A - 3-UTRSNV 5/5 - 2
7-22771304-G-A c.*112G>A - 3-UTRSNV 5/5 - 1
7-22771304-G-T c.*112G>T - 3-UTRSNV 5/5 - 1