ELN

ELN elastin

Annotation transcript: NM_000501.4

1783 unique variant annotations were identified in 653 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
7-73442519-T-C c.2T>C p.M1? Missense 1/33 - 5
7-73442520-G-A c.3G>A p.M1? Missense 1/33 - 1
7-73442520-G-C c.3G>C p.M1? Missense 1/33 - 1
7-73442520-G-T c.3G>T p.M1? Missense 1/33 - 1
7-73442522-C-G c.5C>G p.A2G Missense 1/33 - 1
7-73442523-G-A c.6G>A p.A2= Synonymous 1/33 - 1
7-73442523-G-T c.6G>T p.A2= Synonymous 1/33 - 1
7-73442524-G-A c.7G>A p.G3S Missense 1/33 - 1
7-73442522-CG-C c.8del p.G3Vfs*2 Frameshift 1/33 - 1
7-73442525-G-A c.8G>A p.G3D Missense 1/33 - 2
7-73442525-G-T c.8G>T p.G3V Missense 1/33 - 1
7-73442531-C-T c.14C>T p.T5M Missense 1/33 - 1
7-73442533-G-T c.16G>T p.A6S Missense 1/33 - 1
7-73442534-C-T c.17C>T p.A6V Missense 1/33 - 2
7-73442535-G-A c.18G>A p.A6= Synonymous 1/33 - 1
7-73442536-G-A c.19G>A p.A7T Missense 1/33 - 1
7-73442538-G-A c.21G>A p.A7= Synonymous 1/33 - 1
7-73442538-G-C c.21G>C p.A7= Synonymous 1/33 - 1
7-73442538-G-T c.21G>T p.A7= Synonymous 1/33 - 1
7-73442539-G-A c.22G>A p.A8T Missense 1/33 - 1
7-73442541-C-A c.24C>A p.A8= Synonymous 1/33 - 1
7-73442541-C-G c.24C>G p.A8= Synonymous 1/33 - 1
7-73442541-C-T c.24C>T p.A8= Synonymous 1/33 - 1
7-73442545-C-T c.28C>T p.R10W Missense 1/33 - 1
7-73442546-G-A c.29G>A p.R10Q Missense 1/33 - 1
7-73442548-C-A c.31C>A p.P11T Missense 1/33 - 1
7-73442551-G-A c.34G>A p.G12R Missense 1/33 - 1
7-73442551-GGA-AGC c.34_36delinsAGC p.G12S Missense 1/33 - 1
7-73442551-GGA-TGT c.34_36delinsTGT p.G12C Missense 1/33 - 2
7-73442551-G-T c.34G>T p.G12* Nonsense 1/33 - 1
7-73442552-G-A c.35G>A p.G12E Missense 1/33 - 1
7-73442552-GA-AC c.35_36delinsAC p.G12D Missense 1/33 - 4
7-73442552-G-C c.35G>C p.G12A Missense 1/33 - 1
7-73442552-G-T c.35G>T p.G12V Missense 1/33 - 3
7-73442555-TC-T c.40del p.L14Sfs*108 Frameshift 1/33 - 1
7-73442558-T-TC c.43dup p.L15Pfs*50 Frameshift 1/33 - 1
7-73442569-CTG-TTT c.52_54delinsTTT p.L18F Missense 1/33 - 1
7-73442570-T-C c.53T>C p.L18P Missense 1/33 - 1
7-73442569-C-T c.52C>T p.L18= Synonymous 1/33 - 1
7-73442571-G-A c.54G>A p.L18= Synonymous 1/33 - 1
7-73442571-G-C c.54G>C p.L18= Synonymous 1/33 - 1
7-73442571-G-T c.54G>T p.L18= Synonymous 1/33 - 1
7-73442572-T-G c.55T>G p.S19A Missense 1/33 - 1
7-73442575-ATC-TAA c.58_60delinsTAA p.I20* Nonsense 1/33 - 1
7-73442576-T-A c.59T>A p.I20N Missense 1/33 - 1
7-73442578-C-T c.61C>T p.L21F Missense 1/33 - 1
7-73442583-C-T c.66C>T p.H22= Synonymous 1/33 - 1
7-73442582-ACCC-A c.67_69del p.P23del InFrameDeletion 1/33 - 1
7-73442584-C-T c.67C>T p.P23S Missense 1/33 - 2
7-73442585-C-T c.68C>T p.P23L Missense 1/33 - 1
7-73442586-C-A c.69C>A p.P23= Synonymous 1/33 - 1
7-73442586-C-G c.69C>G p.P23= Synonymous 1/33 - 1
7-73442586-C-T c.69C>T p.P23= Synonymous 1/33 - 1
7-73442590-CG-AC c.73_74delinsAC p.R25T Missense 1/33 - 1
7-73442590-CGG-AGC c.73_75delinsAGC p.R25S Missense 1/33 - 1
7-73442590-CGG-TGT c.73_75delinsTGT p.R25C Missense 1/33 - 1
7-73442590-C-T c.73C>T p.R25W Missense 1/33 - 1
7-73442591-G-A c.74G>A p.R25Q Missense 1/33 - 1
7-73442592-G-A c.75G>A p.R25= Synonymous 1/33 - 1
7-73442593-C-A c.76C>A p.P26T Missense 1/33 - 1
7-73442593-C-T c.76C>T p.P26S Missense 1/33 - 2
7-73442595-T-A c.78T>A p.P26= Synonymous 1/33 - 2
7-73442595-T-C c.78T>C p.P26= Synonymous 1/33 - 1
7-73442595-T-G c.78T>G p.P26= Synonymous 1/33 - 1
7-73442597-G-A c.80G>A p.G27E Missense 1/33 - 1
7-73442968-C-T c.82+369C>T - IntronicSNV - 1/32 4
7-73443015-G-A c.82+416G>A - IntronicSNV - 1/32 1
7-73443245-G-A c.82+646G>A - IntronicSNV - 1/32 2
7-73444670-C-G c.82+2071C>G - IntronicSNV - 1/32 1
7-73444676-C-T c.82+2077C>T - IntronicSNV - 1/32 1
7-73445114-T-C c.82+2515T>C - IntronicSNV - 1/32 5
7-73445789-A-G c.82+3190A>G - IntronicSNV - 1/32 4
7-73445942-A-G c.82+3343A>G - IntronicSNV - 1/32 1
7-73448499-A-G c.83-1195A>G - IntronicSNV - 1/32 1
7-73448700-G-A c.83-994G>A - IntronicSNV - 1/32 2
7-73449696-G-A c.85G>A p.V29I Missense 2/33 - 1
7-73449696-GTC-ATG c.85_87delinsATG p.V29M Missense 2/33 - 1
7-73449699-C-T c.88C>T p.P30S Missense 2/33 - 4
7-73449705-G-A c.94G>A p.A32T Missense 2/33 - 1
7-73449705-GC-AT c.94_95delinsAT p.A32I Missense 2/33 - 1
7-73449711-C-G c.100C>G p.P34A Missense 2/33 - 1
7-73449714-G-C c.103G>C p.G35R Missense 2/33 - 1
7-73449715-G-A c.104G>A p.G35D Missense 2/33 - 3
7-73449715-G-C c.104G>C p.G35A Missense 2/33 - 3
7-73449726-G-A c.115G>A p.G39R Missense 2/33 - 1
7-73449726-G-C c.115G>C p.G39R Missense 2/33 - 1
7-73449729-G-T c.118G>T p.G40* Nonsense 2/33 - 1
7-73449730-G-A c.119G>A p.G40E Missense 2/33 - 3
7-73449730-G-T c.119G>T p.G40V Missense 2/33 - 4
7-73449732-G-A c.121G>A p.V41I Missense 2/33 - 2
7-73449732-G-C c.121G>C p.V41L Missense 2/33 - 2
7-73449741-C-T c.130C>T p.P44S Missense 2/33 - 1
7-73449740-TC-T c.131del p.P44Qfs*78 Frameshift 2/33 - 1
7-73449744-G-A c.133G>A p.G45R Missense 2/33 - 1
7-73449749-C-T c.133+5C>T - IntronicSNV - 2/32 1
7-73449760-C-A c.133+16C>A - IntronicSNV - 2/32 2
7-73449760-C-T c.133+16C>T - IntronicSNV - 2/32 1
7-73449846-G-A c.133+102G>A - IntronicSNV - 2/32 4
7-73450105-G-C c.133+361G>C - IntronicSNV - 2/32 2
7-73450110-T-TA c.133+375dup - IntronicInsertion - 2/32 1
7-73450880-C-A c.134-5C>A - IntronicSNV - 2/32 1
7-73450880-C-G c.134-5C>G - IntronicSNV - 2/32 1
7-73450880-C-T c.134-5C>T - IntronicSNV - 2/32 1
7-73450888-C-A c.137C>A p.A46D Missense 3/33 - 1
7-73450890-G-A c.139G>A p.G47S Missense 3/33 - 4
7-73450890-G-T c.139G>T p.G47C Missense 3/33 - 1
7-73450891-G-A c.140G>A p.G47D Missense 3/33 - 1
7-73450896-G-A c.145G>A p.G49R Missense 3/33 - 4
7-73450896-GG-AA c.145_146delinsAA p.G49K Missense 3/33 - 1
7-73450897-G-A c.146G>A p.G49E Missense 3/33 - 2
7-73450899-G-C c.148G>C p.A50P Missense 3/33 - 1
7-73450900-C-A c.149C>A p.A50D Missense 3/33 - 2
7-73450902-C-T c.151C>T p.L51F Missense 3/33 - 1
7-73450903-T-C c.152T>C p.L51P Missense 3/33 - 1
7-73450908-G-A c.157G>A p.G53R Missense 3/33 - 1
7-73450908-G-T c.157G>T p.G53* Nonsense 3/33 - 1
7-73450909-G-A c.158G>A p.G53E Missense 3/33 - 4
7-73450911-G-T c.160G>T p.G54* Nonsense 3/33 - 1
7-73450912-G-A c.161G>A p.G54E Missense 3/33 - 1
7-73450914-G-A c.163G>A p.A55T Missense 3/33 - 1
7-73450916-T-A c.163+2T>A - IntronicSNV - 3/32 1
7-73450916-T-C c.163+2T>C - IntronicSNV - 3/32 2
7-73450916-T-G c.163+2T>G - IntronicSNV - 3/32 1
7-73450948-A-C c.163+34A>C - IntronicSNV - 3/32 1
7-73451792-A-G c.164-245A>G - IntronicSNV - 3/32 1
7-73451874-C-G c.164-163C>G - IntronicSNV - 3/32 1
7-73451874-C-T c.164-163C>T - IntronicSNV - 3/32 1
7-73452037-C-A c.164C>A p.A55E Missense 4/33 - 1
7-73452037-C-T c.164C>T p.A55V Missense 4/33 - 1
7-73452038-G-A c.165G>A p.A55= Synonymous 4/33 - 3
7-73452038-G-C c.165G>C p.A55= Synonymous 4/33 - 1
7-73452038-G-T c.165G>T p.A55= Synonymous 4/33 - 1
7-73452041-G-T c.168G>T p.L56= Synonymous 4/33 - 3
7-73452043-GG-AC c.170_171delinsAC p.G57D Missense 4/33 - 1
7-73452040-TG-T c.171del p.P58Lfs*64 Frameshift 4/33 - 1
7-73452044-G-T c.171G>T p.G57= Synonymous 4/33 - 1
7-73452048-G-A c.175G>A p.G59R Missense 4/33 - 1
7-73452048-G-C c.175G>C p.G59R Missense 4/33 - 1
7-73452048-GGA-TGG c.175_177delinsTGG p.G59W Missense 4/33 - 1
7-73452049-G-C c.176G>C p.G59A Missense 4/33 - 1
7-73452051-G-C c.178G>C p.G60R Missense 4/33 - 6
7-73452052-G-A c.179G>A p.G60D Missense 4/33 - 2
7-73452052-G-C c.179G>C p.G60A Missense 4/33 - 2
7-73452053-C-T c.180C>T p.G60= Synonymous 4/33 - 1
7-73452054-A-T c.181A>T p.K61* Nonsense 4/33 - 1
7-73452056-A-G c.183A>G p.K61= Synonymous 4/33 - 1
7-73452058-C-T c.185C>T p.P62L Missense 4/33 - 1
7-73452058-CT-AA c.185_186delinsAA p.P62Q Missense 4/33 - 1
7-73452060-C-T c.187C>T p.L63F Missense 4/33 - 2
7-73452062-T-A c.189T>A p.L63= Synonymous 4/33 - 1
7-73452062-T-C c.189T>C p.L63= Synonymous 4/33 - 1
7-73452062-T-G c.189T>G p.L63= Synonymous 4/33 - 1
7-73452063-A-G c.190A>G p.K64E Missense 4/33 - 2
7-73452067-C-A c.194C>A p.P65Q Missense 4/33 - 1
7-73452140-G-A c.196+71G>A - IntronicSNV - 4/32 12
7-73452144-GGGACAAGGAAACTAGGAACA-G c.196+86_196+105del - IntronicDeletion - 4/32 1
7-73452263-G-A c.196+194G>A - IntronicSNV - 4/32 2
7-73454199-G-A c.197-1347G>A - IntronicSNV - 4/32 4
7-73454409-T-C c.197-1137T>C - IntronicSNV - 4/32 1
7-73454409-T-G c.197-1137T>G - IntronicSNV - 4/32 1
7-73454791-G-A c.197-755G>A - IntronicSNV - 4/32 2
7-73455276-T-C c.197-270T>C - IntronicSNV - 4/32 1
7-73455384-G-A c.197-162G>A - IntronicSNV - 4/32 3
7-73455546-T-G c.197T>G p.V66G Missense 5/33 - 1
7-73455548-C-T c.199C>T p.P67S Missense 5/33 - 7
7-73455549-C-T c.200C>T p.P67L Missense 5/33 - 1
7-73455550-C-A c.201C>A p.P67= Synonymous 5/33 - 1
7-73455550-C-G c.201C>G p.P67= Synonymous 5/33 - 1
7-73455550-C-T c.201C>T p.P67= Synonymous 5/33 - 1
7-73455551-G-A c.202G>A p.G68R Missense 5/33 - 3
7-73455551-G-C c.202G>C p.G68R Missense 5/33 - 2
7-73455552-G-A c.203G>A p.G68E Missense 5/33 - 2
7-73455553-A-C c.204A>C p.G68= Synonymous 5/33 - 3
7-73455553-A-G c.204A>G p.G68= Synonymous 5/33 - 4
7-73455553-A-T c.204A>T p.G68= Synonymous 5/33 - 3
7-73455555-G-A c.206G>A p.G69E Missense 5/33 - 1
7-73455553-AG-A c.207del p.A71Rfs*51 Frameshift 5/33 - 1
7-73455557-C-T c.208C>T p.L70F Missense 5/33 - 5
7-73455560-GC-AG c.211_212delinsAG p.A71R Missense 5/33 - 1
7-73455560-GCG-TAT c.211_213delinsTAT p.A71Y Missense 5/33 - 1
7-73455560-GCG-TGT c.211_213delinsTGT p.A71C Missense 5/33 - 1
7-73455561-C-A c.212C>A p.A71E Missense 5/33 - 3
7-73455561-C-G c.212C>G p.A71G Missense 5/33 - 2
7-73455561-C-T c.212C>T p.A71V Missense 5/33 - 12
7-73455562-G-A c.213G>A p.A71= Synonymous 5/33 - 1
7-73455562-G-C c.213G>C p.A71= Synonymous 5/33 - 1
7-73455562-G-T c.213G>T p.A71= Synonymous 5/33 - 1
7-73455564-G-A c.215G>A p.G72D Missense 5/33 - 1
7-73455567-C-T c.218C>T p.A73V Missense 5/33 - 1
7-73455568-T-A c.219T>A p.A73= Synonymous 5/33 - 1
7-73455568-T-C c.219T>C p.A73= Synonymous 5/33 - 1
7-73455568-T-G c.219T>G p.A73= Synonymous 5/33 - 1
7-73455570-G-A c.221G>A p.G74D Missense 5/33 - 1
7-73455570-G-T c.221G>T p.G74V Missense 5/33 - 1
7-73455572-C-T c.223C>T p.L75F Missense 5/33 - 1
7-73455576-G-C c.227G>C p.G76A Missense 5/33 - 1
7-73455576-G-T c.227G>T p.G76V Missense 5/33 - 1
7-73455578-GCA-TTT c.229_231delinsTTT p.A77F Missense 5/33 - 1
7-73455579-C-A c.230C>A p.A77E Missense 5/33 - 2
7-73455579-C-G c.230C>G p.A77G Missense 5/33 - 1
7-73455579-C-T c.230C>T p.A77V Missense 5/33 - 1
7-73455658-C-T c.232+77C>T - IntronicSNV - 5/32 1
7-73456160-C-A c.232+579C>A - IntronicSNV - 5/32 1
7-73456850-G-A c.233-94G>A - IntronicSNV - 5/32 2
7-73456944-G-A c.233G>A p.G78E Missense 6/33 - 2
7-73456945-G-C c.234G>C p.G78= Synonymous 6/33 - 1
7-73456947-T-G c.236T>G p.L79R Missense 6/33 - 1
7-73456948-C-A c.237C>A p.L79= Synonymous 6/33 - 2
7-73456948-C-G c.237C>G p.L79= Synonymous 6/33 - 3
7-73456948-C-T c.237C>T p.L79= Synonymous 6/33 - 3
7-73456949-G-A c.238G>A p.G80S Missense 6/33 - 1
7-73456950-G-C c.239G>C p.G80A Missense 6/33 - 1
7-73456951-C-A c.240C>A p.G80= Synonymous 6/33 - 1
7-73456951-C-G c.240C>G p.G80= Synonymous 6/33 - 2
7-73456951-C-T c.240C>T p.G80= Synonymous 6/33 - 3
7-73456952-G-A c.241G>A p.A81T Missense 6/33 - 1
7-73456953-C-A c.242C>A p.A81D Missense 6/33 - 3
7-73456954-C-A c.243C>A p.A81= Synonymous 6/33 - 1
7-73456954-C-G c.243C>G p.A81= Synonymous 6/33 - 1
7-73456954-C-T c.243C>T p.A81= Synonymous 6/33 - 1
7-73456956-T-C c.245T>C p.F82S Missense 6/33 - 1
7-73456957-C-T c.246C>T p.F82= Synonymous 6/33 - 2
7-73456959-C-G c.248C>G p.P83R Missense 6/33 - 1
7-73456961-G-A c.250G>A p.A84T Missense 6/33 - 5
7-73456961-G-T c.250G>T p.A84S Missense 6/33 - 1
7-73456964-G-A c.253G>A p.V85I Missense 6/33 - 5
7-73456964-G-T c.253G>T p.V85F Missense 6/33 - 4
7-73456965-T-A c.254T>A p.V85D Missense 6/33 - 1
7-73456970-T-C c.259T>C p.F87L Missense 6/33 - 3
7-73456970-T-G c.259T>G p.F87V Missense 6/33 - 1
7-73456972-T-A c.261T>A p.F87L Missense 6/33 - 1
7-73456972-T-G c.261T>G p.F87L Missense 6/33 - 1
7-73456972-T-C c.261T>C p.F87= Synonymous 6/33 - 2
7-73456973-C-T c.262C>T p.P88S Missense 6/33 - 1
7-73456974-C-T c.263C>T p.P88L Missense 6/33 - 1
7-73456975-G-A c.264G>A p.P88= Synonymous 6/33 - 2
7-73456975-G-C c.264G>C p.P88= Synonymous 6/33 - 1
7-73456975-G-T c.264G>T p.P88= Synonymous 6/33 - 1
7-73456976-G-A c.265G>A p.G89R Missense 6/33 - 2
7-73456977-G-A c.266G>A p.G89E Missense 6/33 - 1
7-73456979-G-A c.268G>A p.A90T Missense 6/33 - 1
7-73456979-GC-TG c.268_269delinsTG p.A90C Missense 6/33 - 1
7-73456979-G-T c.268G>T p.A90S Missense 6/33 - 1
7-73456980-C-T c.269C>T p.A90V Missense 6/33 - 2
7-73456982-C-T c.271C>T p.L91= Synonymous 6/33 - 3
7-73456982-TC-T c.271del p.L91Wfs*31 Frameshift 6/33 - 1
7-73456985-GTG-ATC c.274_276delinsATC p.V92I Missense 6/33 - 1
7-73456989-C-G c.278C>G p.P93R Missense 6/33 - 2
7-73456989-C-T c.278C>T p.P93L Missense 6/33 - 1
7-73456990-T-A c.279T>A p.P93= Synonymous 6/33 - 2
7-73456990-T-C c.279T>C p.P93= Synonymous 6/33 - 2
7-73456990-T-G c.279T>G p.P93= Synonymous 6/33 - 2
7-73456992-G-C c.281G>C p.G94A Missense 6/33 - 1
7-73456995-G-A c.284G>A p.G95E Missense 6/33 - 1
7-73456995-G-C c.284G>C p.G95A Missense 6/33 - 1
7-73457000-G-C c.289G>C p.A97P Missense 6/33 - 1
7-73457000-GC-TG c.289_290delinsTG p.A97C Missense 6/33 - 1
7-73457001-C-T c.290C>T p.A97V Missense 6/33 - 1
7-73457004-ACG-A c.295_296del p.A99Cfs*5 Frameshift 6/33 - 1
7-73457006-G-A c.295G>A p.A99T Missense 6/33 - 4
7-73457006-G-T c.295G>T p.A99S Missense 6/33 - 1
7-73457009-G-A c.298G>A p.A100T Missense 6/33 - 3
7-73457012-GC-TA c.301_302delinsTA p.A101* Nonsense 6/33 - 1
7-73457015-AG-A c.304del p.A102Pfs*20 Frameshift 6/33 - 1
7-73457022-A-G c.311A>G p.K104R Missense 6/33 - 1
7-73457023-A-G c.312A>G p.K104= Synonymous 6/33 - 1
7-73457025-C-T c.314C>T p.A105V Missense 6/33 - 1
7-73457027-G-T c.316G>T p.A106S Missense 6/33 - 1
7-73457036-G-A c.325G>A p.G109S Missense 6/33 - 1
7-73457036-G-T c.325G>T p.G109C Missense 6/33 - 1
7-73457037-G-T c.325+1G>T - IntronicSNV - 6/32 1
7-73457255-G-A c.326-59G>A - IntronicSNV - 6/32 2
7-73457314-G-A c.326G>A p.G109D Missense 7/33 - 2
7-73457315-GC-G c.327del p.A110Lfs*12 Frameshift 7/33 - 1
7-73457316-G-A c.328G>A p.A110T Missense 7/33 - 4
7-73457316-G-T c.328G>T p.A110S Missense 7/33 - 1
7-73457318-T-A c.330T>A p.A110= Synonymous 7/33 - 2
7-73457318-T-C c.330T>C p.A110= Synonymous 7/33 - 3
7-73457318-T-G c.330T>G p.A110= Synonymous 7/33 - 2
7-73457320-G-A c.332G>A p.G111E Missense 7/33 - 1
7-73457320-G-T c.332G>T p.G111V Missense 7/33 - 1
7-73457321-G-A c.333G>A p.G111= Synonymous 7/33 - 1
7-73457321-G-C c.333G>C p.G111= Synonymous 7/33 - 1
7-73457321-G-T c.333G>T p.G111= Synonymous 7/33 - 1
7-73457326-G-A c.338G>A p.G113D Missense 7/33 - 1
7-73457326-G-T c.338G>T p.G113V Missense 7/33 - 1
7-73457328-G-T c.340G>T p.G114C Missense 7/33 - 1
7-73457329-G-A c.341G>A p.G114D Missense 7/33 - 2
7-73457329-GT-AG c.341_342delinsAG p.G114E Missense 7/33 - 1
7-73457330-T-A c.342T>A p.G114= Synonymous 7/33 - 1
7-73457331-G-A c.343G>A p.V115I Missense 7/33 - 5
7-73457334-C-T c.346C>T p.P116S Missense 7/33 - 1
7-73457335-C-T c.347C>T p.P116L Missense 7/33 - 1
7-73457337-G-A c.349G>A p.G117R Missense 7/33 - 4
7-73457337-G-C c.349G>C p.G117R Missense 7/33 - 1
7-73457340-G-A c.352G>A p.V118I Missense 7/33 - 2
7-73457341-T-C c.353T>C p.V118A Missense 7/33 - 1
7-73457346-G-T c.358G>T p.G120C Missense 7/33 - 1
7-73457347-G-A c.359G>A p.G120D Missense 7/33 - 1
7-73457350-T-A c.362T>A p.L121* Nonsense 7/33 - 1
7-73457350-T-C c.362T>C p.L121S Missense 7/33 - 1
7-73457350-T-G c.362T>G p.L121* Nonsense 7/33 - 1
7-73457353-G-A c.365G>A p.G122E Missense 7/33 - 4
7-73457355-G-A c.367G>A p.V123M Missense 7/33 - 1
7-73457358-T-G c.370T>G p.S124A Missense 7/33 - 1
7-73457361-G-T c.373G>T p.A125S Missense 7/33 - 1
7-73457450-G-C c.379G>C p.A127P Missense 8/33 - 1
7-73457451-C-A c.380C>A p.A127E Missense 8/33 - 1
7-73457454-GT-G c.383del p.V128Gfs*9 Frameshift 8/33 - 1
7-73457460-C-T c.389C>T p.P130L Missense 8/33 - 1
7-73457463-A-C c.392A>C p.Q131P Missense 8/33 - 1
7-73457465-C-T c.394C>T p.P132S Missense 8/33 - 1
7-73457466-C-T c.395C>T p.P132L Missense 8/33 - 1
7-73457468-G-A c.397G>A p.G133R Missense 8/33 - 1
7-73457468-G-C c.397G>C p.G133R Missense 8/33 - 1
7-73457469-G-T c.398G>T p.G133V Missense 8/33 - 1
7-73457470-A-C c.399A>C p.G133= Synonymous 8/33 - 2
7-73457470-A-G c.399A>G p.G133= Synonymous 8/33 - 2
7-73457470-A-T c.399A>T p.G133= Synonymous 8/33 - 2
7-73457472-C-G c.401C>G p.A134G Missense 8/33 - 1
7-73457474-G-A c.403G>A p.G135R Missense 8/33 - 2
7-73457474-G-C c.403G>C p.G135R Missense 8/33 - 1
7-73457475-G-A c.404G>A p.G135E Missense 8/33 - 1
7-73457475-G-T c.404G>T p.G135V Missense 8/33 - 1
7-73457477-G-T c.406G>T p.V136L Missense 8/33 - 1
7-73457479-G-A c.408G>A p.V136= Synonymous 8/33 - 2
7-73457479-G-C c.408G>C p.V136= Synonymous 8/33 - 1
7-73457479-G-T c.408G>T p.V136= Synonymous 8/33 - 1
7-73457480-A-C c.409A>C p.K137Q Missense 8/33 - 1
7-73457485-TG-T c.417del p.V141Cfs*42 Frameshift 8/33 - 1
7-73457491-A-G c.420A>G p.K140= Synonymous 8/33 - 2
7-73457492-G-T c.421G>T p.V141L Missense 8/33 - 1
7-73457495-C-T c.424C>T p.P142S Missense 8/33 - 1
7-73457498-G-A c.427G>A p.G143S Missense 8/33 - 1
7-73457506-C-A c.427+8C>A - IntronicSNV - 8/32 1
7-73457506-C-T c.427+8C>T - IntronicSNV - 8/32 3
7-73457590-G-A c.427+92G>A - IntronicSNV - 8/32 1
7-73458209-G-C c.428G>C p.G143A Missense 9/33 - 1
7-73458211-G-A c.430G>A p.V144M Missense 9/33 - 1
7-73458212-TG-T c.435del p.L146Cfs*37 Frameshift 9/33 - 1
7-73458220-C-T c.439C>T p.P147S Missense 9/33 - 3
7-73458221-CA-AT c.440_441delinsAT p.P147H Missense 9/33 - 1
7-73458223-GGT-TGA c.442_444delinsTGA p.G148* Nonsense 9/33 - 1
7-73458226-G-A c.445G>A p.V149I Missense 9/33 - 1
7-73458226-TG-T c.445del p.V149Yfs*34 Frameshift 9/33 - 1
7-73458227-GT-G c.446del p.V149Dfs*34 Frameshift 9/33 - 1
7-73458231-C-A c.450C>A p.Y150* Nonsense 9/33 - 1
7-73458231-C-G c.450C>G p.Y150* Nonsense 9/33 - 1
7-73458232-C-T c.451C>T p.P151S Missense 9/33 - 1
7-73458235-G-A c.454G>A p.G152S Missense 9/33 - 2
7-73458235-G-C c.454G>C p.G152R Missense 9/33 - 1
7-73458236-G-C c.455G>C p.G152A Missense 9/33 - 1
7-73458239-G-C c.458G>C p.G153A Missense 9/33 - 2
7-73458241-G-A c.460G>A p.V154M Missense 9/33 - 2
7-73458241-GTG-ATC c.460_462delinsATC p.V154I Missense 9/33 - 1
7-73458244-C-G c.463C>G p.L155V Missense 9/33 - 1
7-73458247-C-T c.466C>T p.P156S Missense 9/33 - 3
7-73458248-C-A c.467C>A p.P156Q Missense 9/33 - 1
7-73458249-A-G c.468A>G p.P156= Synonymous 9/33 - 1
7-73458250-G-A c.469G>A p.G157R Missense 9/33 - 1
7-73458262-G-C c.469+12G>C - IntronicSNV - 9/32 1
7-73459527-C-T c.470-25C>T - IntronicSNV - 9/32 1
7-73459552-G-A c.470G>A p.G157E Missense 10/33 - 2
7-73459558-G-A c.476G>A p.R159Q Missense 10/33 - 1
7-73459561-TC-GG c.479_480delinsGG p.F160W Missense 10/33 - 1
7-73459562-C-G c.480C>G p.F160L Missense 10/33 - 1
7-73459563-C-T c.481C>T p.P161S Missense 10/33 - 3
7-73459564-C-T c.482C>T p.P161L Missense 10/33 - 2
7-73459565-C-A c.483C>A p.P161= Synonymous 10/33 - 1
7-73459565-C-G c.483C>G p.P161= Synonymous 10/33 - 1
7-73459565-C-T c.483C>T p.P161= Synonymous 10/33 - 1
7-73459566-G-A c.484G>A p.G162S Missense 10/33 - 1
7-73459566-G-C c.484G>C p.G162R Missense 10/33 - 2
7-73459569-G-A c.487G>A p.V163M Missense 10/33 - 1
7-73459572-G-A c.490G>A p.G164R Missense 10/33 - 5
7-73459572-G-C c.490G>C p.G164R Missense 10/33 - 1
7-73459573-G-GT c.491_492insT p.V165Gfs*12 Frameshift 10/33 - 1
7-73459575-G-T c.493G>T p.V165L Missense 10/33 - 3
7-73459579-T-C c.497T>C p.L166P Missense 10/33 - 1
7-73459580-C-T c.498C>T p.L166= Synonymous 10/33 - 2
7-73459581-C-T c.499C>T p.P167S Missense 10/33 - 1
7-73459582-C-T c.500C>T p.P167L Missense 10/33 - 1
7-73459584-G-A c.502G>A p.G168R Missense 10/33 - 2
7-73459584-G-C c.502G>C p.G168R Missense 10/33 - 2
7-73459591-C-G c.509C>G p.P170R Missense 10/33 - 1
7-73459591-C-T c.509C>T p.P170L Missense 10/33 - 1
7-73459589-TC-T c.510del p.T171Lfs*12 Frameshift 10/33 - 1
7-73459594-AC-A c.512del p.T171Mfs*12 Frameshift 10/33 - 1
7-73459594-CT-TG c.512_513delinsTG p.T171M Missense 10/33 - 1
7-73459596-G-A c.514G>A p.G172R Missense 10/33 - 4
7-73459597-G-C c.515G>C p.G172A Missense 10/33 - 1
7-73459597-G-T c.515G>T p.G172V Missense 10/33 - 1
7-73459598-A-C c.516A>C p.G172= Synonymous 10/33 - 1
7-73459598-A-G c.516A>G p.G172= Synonymous 10/33 - 1
7-73459598-A-T c.516A>T p.G172= Synonymous 10/33 - 1
7-73459599-AG-A c.517del p.A173Qfs*10 Frameshift 10/33 - 1
7-73459600-C-T c.518C>T p.A173V Missense 10/33 - 1
7-73459602-G-A c.520G>A p.G174R Missense 10/33 - 2
7-73459602-G-C c.520G>C p.G174R Missense 10/33 - 2
7-73459608-A-T c.526A>T p.K176* Nonsense 10/33 - 1
7-73459609-A-C c.527A>C p.K176T Missense 10/33 - 1
7-73459617-G-C c.535G>C p.A179P Missense 10/33 - 1
7-73459617-G-T c.535G>T p.A179S Missense 10/33 - 2
7-73459620-C-T c.538C>T p.P180S Missense 10/33 - 1
7-73460367-G-A c.542-151G>A - IntronicSNV - 10/32 1
7-73460520-G-T c.544G>T p.V182L Missense 11/33 - 1
7-73460522-A-G c.546A>G p.V182= Synonymous 11/33 - 1
7-73460523-G-A c.547G>A p.G183S Missense 11/33 - 3
7-73460522-AG-A c.548del p.G183Vfs*140 Frameshift 11/33 - 1
7-73460526-GGA-TGT c.550_552delinsTGT p.G184C Missense 11/33 - 1
7-73460527-G-C c.551G>C p.G184A Missense 11/33 - 2
7-73460530-C-T c.554C>T p.A185V Missense 11/33 - 2
7-73460532-T-C c.556T>C p.F186L Missense 11/33 - 1
7-73460534-T-A c.558T>A p.F186L Missense 11/33 - 1
7-73460534-T-G c.558T>G p.F186L Missense 11/33 - 1
7-73460535-G-T c.559G>T p.A187S Missense 11/33 - 1
7-73460537-TG-T c.563del p.G188Efs*135 Frameshift 11/33 - 1
7-73460539-G-A c.563G>A p.G188E Missense 11/33 - 1
7-73460542-T-A c.566T>A p.I189N Missense 11/33 - 1
7-73460543-C-T c.567C>T p.I189= Synonymous 11/33 - 2
7-73460544-C-T c.568C>T p.P190S Missense 11/33 - 3
7-73460546-A-C c.570A>C p.P190= Synonymous 11/33 - 1
7-73460546-A-G c.570A>G p.P190= Synonymous 11/33 - 1
7-73460546-A-T c.570A>T p.P190= Synonymous 11/33 - 1
7-73461026-G-A c.572G>A p.G191E Missense 12/33 - 2
7-73461026-G-C c.572G>C p.G191A Missense 12/33 - 1
7-73461030-T-A c.576T>A p.V192= Synonymous 12/33 - 2
7-73461030-T-C c.576T>C p.V192= Synonymous 12/33 - 2
7-73461030-T-G c.576T>G p.V192= Synonymous 12/33 - 2
7-73461030-TG-T c.578del p.G193Dfs*130 Frameshift 12/33 - 1
7-73461032-G-C c.578G>C p.G193A Missense 12/33 - 1
7-73461033-A-C c.579A>C p.G193= Synonymous 12/33 - 1
7-73461033-A-G c.579A>G p.G193= Synonymous 12/33 - 1
7-73461033-A-T c.579A>T p.G193= Synonymous 12/33 - 1
7-73461035-C-A c.581C>A p.P194H Missense 12/33 - 1
7-73461035-C-T c.581C>T p.P194L Missense 12/33 - 2
7-73461033-AC-A c.582del p.F195Lfs*128 Frameshift 12/33 - 2
7-73461040-G-T c.586G>T p.G196W Missense 12/33 - 1
7-73461041-G-A c.587G>A p.G196E Missense 12/33 - 1
7-73461043-G-A c.589G>A p.G197R Missense 12/33 - 3
7-73461043-G-C c.589G>C p.G197R Missense 12/33 - 1
7-73461039-TG-T c.590del p.G197Dfs*126 Frameshift 12/33 - 3
7-73461044-G-C c.590G>C p.G197A Missense 12/33 - 2
7-73461045-GA-G c.591del p.P198Rfs*125 Frameshift 12/33 - 1
7-73461046-C-T c.592C>T p.P198S Missense 12/33 - 1
7-73461045-AC-A c.593del p.P198Rfs*125 Frameshift 12/33 - 1
7-73461047-C-T c.593C>T p.P198L Missense 12/33 - 4
7-73461048-G-A c.594G>A p.P198= Synonymous 12/33 - 2
7-73461048-G-C c.594G>C p.P198= Synonymous 12/33 - 1
7-73461048-G-T c.594G>T p.P198= Synonymous 12/33 - 1
7-73461051-A-C c.597A>C p.Q199H Missense 12/33 - 2
7-73461052-CC-TT c.598_599delinsTT p.P200F Missense 12/33 - 1
7-73461056-G-C c.602G>C p.G201A Missense 12/33 - 1
7-73461056-G-T c.602G>T p.G201V Missense 12/33 - 1
7-73461057-A-C c.603A>C p.G201= Synonymous 12/33 - 1
7-73461057-A-G c.603A>G p.G201= Synonymous 12/33 - 1
7-73461057-A-T c.603A>T p.G201= Synonymous 12/33 - 1
7-73461061-C-T c.607C>T p.P203S Missense 12/33 - 1
7-73461059-TC-T c.608del p.P203Hfs*120 Frameshift 12/33 - 1
7-73461059-T-TC c.608dup p.L204Tfs*58 Frameshift 12/33 - 1
7-73461065-T-C c.611T>C p.L204P Missense 12/33 - 1
7-73461068-G-A c.614G>A p.G205E Missense 12/33 - 1
7-73461068-G-C c.614G>C p.G205A Missense 12/33 - 1
7-73461065-TG-T c.615del p.Y206Ifs*117 Frameshift 12/33 - 1
7-73461069-G-A c.615G>A p.G205= Synonymous 12/33 - 2
7-73461069-G-C c.615G>C p.G205= Synonymous 12/33 - 1
7-73461069-G-T c.615G>T p.G205= Synonymous 12/33 - 1
7-73461071-A-T c.617A>T p.Y206F Missense 12/33 - 1
7-73461073-C-T c.619C>T p.P207S Missense 12/33 - 2
7-73461078-C-A c.624C>A p.I208= Synonymous 12/33 - 1
7-73461079-A-G c.625A>G p.K209E Missense 12/33 - 1
7-73461080-A-G c.626A>G p.K209R Missense 12/33 - 1
7-73461083-C-T c.629C>T p.A210V Missense 12/33 - 3
7-73461084-C-G c.630C>G p.A210= Synonymous 12/33 - 2
7-73461085-C-G c.631C>G p.P211A Missense 12/33 - 2
7-73461085-C-T c.631C>T p.P211S Missense 12/33 - 2
7-73461086-C-T c.632C>T p.P211L Missense 12/33 - 2
7-73461088-A-T c.634A>T p.K212* Nonsense 12/33 - 1
7-73461090-G-A c.636G>A p.K212= Synonymous 12/33 - 1
7-73461094-C-T c.640C>T p.P214S Missense 12/33 - 1
7-73461095-C-A c.641C>A p.P214H Missense 12/33 - 1
7-73461098-GGT-G c.643+1_643+2del - SpliceDonorDeletion - 12/32 1
7-73461147-T-C c.643+50T>C - IntronicSNV - 12/32 1
7-73461147-T-G c.643+50T>G - IntronicSNV - 12/32 1
7-73461148-TCA-T c.643+55_643+56del - IntronicDeletion - 12/32 1
7-73462009-C-T c.648C>T p.G216= Synonymous 13/33 - 4
7-73462014-G-A c.653G>A p.G218E Missense 13/33 - 1
7-73462015-A-C c.654A>C p.G218= Synonymous 13/33 - 1
7-73462015-A-G c.654A>G p.G218= Synonymous 13/33 - 1
7-73462015-A-T c.654A>T p.G218= Synonymous 13/33 - 1
7-73462016-C-T c.655C>T p.L219= Synonymous 13/33 - 1
7-73462018-G-A c.657G>A p.L219= Synonymous 13/33 - 1
7-73462018-G-C c.657G>C p.L219= Synonymous 13/33 - 1
7-73462018-G-T c.657G>T p.L219= Synonymous 13/33 - 1
7-73462019-C-T c.658C>T p.P220S Missense 13/33 - 1
7-73462020-C-T c.659C>T p.P220L Missense 13/33 - 2
7-73462021-C-A c.660C>A p.P220= Synonymous 13/33 - 2
7-73462021-C-G c.660C>G p.P220= Synonymous 13/33 - 1
7-73462021-C-T c.660C>T p.P220= Synonymous 13/33 - 1
7-73462025-A-G c.664A>G p.T222A Missense 13/33 - 1
7-73462026-C-T c.665C>T p.T222I Missense 13/33 - 1
7-73462027-C-A c.666C>A p.T222= Synonymous 13/33 - 1
7-73462027-C-G c.666C>G p.T222= Synonymous 13/33 - 1
7-73462027-C-T c.666C>T p.T222= Synonymous 13/33 - 2
7-73462028-A-G c.667A>G p.T223A Missense 13/33 - 1
7-73462031-G-A c.670G>A p.G224R Missense 13/33 - 1
7-73462031-G-C c.670G>C p.G224R Missense 13/33 - 1
7-73462032-G-A c.671G>A p.G224E Missense 13/33 - 1
7-73462037-C-T c.676C>T p.L226= Synonymous 13/33 - 2
7-73462039-G-A c.678G>A p.L226= Synonymous 13/33 - 1
7-73462041-C-G c.680C>G p.P227R Missense 13/33 - 1
7-73462042-C-A c.681C>A p.P227= Synonymous 13/33 - 1
7-73462042-C-G c.681C>G p.P227= Synonymous 13/33 - 1
7-73462042-C-T c.681C>T p.P227= Synonymous 13/33 - 1
7-73462046-G-A c.685G>A p.G229S Missense 13/33 - 1
7-73462472-G-T c.686G>T p.G229V Missense 14/33 - 1
7-73462476-T-A c.690T>A p.Y230* Nonsense 14/33 - 1
7-73462478-G-T c.692G>T p.G231V Missense 14/33 - 1
7-73462480-C-T c.694C>T p.P232S Missense 14/33 - 1
7-73462481-C-T c.695C>T p.P232L Missense 14/33 - 2
7-73462482-C-A c.696C>A p.P232= Synonymous 14/33 - 1
7-73462482-C-G c.696C>G p.P232= Synonymous 14/33 - 1
7-73462482-C-T c.696C>T p.P232= Synonymous 14/33 - 3
7-73462483-G-A c.697G>A p.G233R Missense 14/33 - 3
7-73462483-G-C c.697G>C p.G233R Missense 14/33 - 2
7-73462483-GGA-TGG c.697_699delinsTGG p.G233W Missense 14/33 - 1
7-73462484-G-C c.698G>C p.G233A Missense 14/33 - 1
7-73462485-A-G c.699A>G p.G233= Synonymous 14/33 - 1
7-73462486-G-A c.700G>A p.G234R Missense 14/33 - 3
7-73462486-G-C c.700G>C p.G234R Missense 14/33 - 3
7-73462489-G-A c.703G>A p.V235M Missense 14/33 - 1
7-73462496-G-A c.710G>A p.G237D Missense 14/33 - 1
7-73462496-G-C c.710G>C p.G237A Missense 14/33 - 3
7-73462497-GTGCAGC-G c.711_716del p.A238_A239del InFrameDeletion 14/33 - 1
7-73462497-T-A c.711T>A p.G237= Synonymous 14/33 - 1
7-73462497-T-C c.711T>C p.G237= Synonymous 14/33 - 1
7-73462497-T-G c.711T>G p.G237= Synonymous 14/33 - 2
7-73462498-G-A c.712G>A p.A238T Missense 14/33 - 1
7-73462501-G-A c.715G>A p.A239T Missense 14/33 - 1
7-73462501-G-T c.715G>T p.A239S Missense 14/33 - 1
7-73462502-C-G c.716C>G p.A239G Missense 14/33 - 2
7-73462504-GG-AC c.718_719delinsAC p.G240T Missense 14/33 - 1
7-73462509-G-A c.723G>A p.K241= Synonymous 14/33 - 1
7-73462512-T-C c.726T>C p.A242= Synonymous 14/33 - 1
7-73462513-G-A c.727G>A p.G243S Missense 14/33 - 1
7-73462514-GT-AG c.728_729delinsAG p.G243E Missense 14/33 - 1
7-73462521-A-C c.735A>C p.P245= Synonymous 14/33 - 1
7-73462521-A-G c.735A>G p.P245= Synonymous 14/33 - 1
7-73462521-A-T c.735A>T p.P245= Synonymous 14/33 - 1
7-73462524-A-C c.738A>C p.T246= Synonymous 14/33 - 1
7-73462524-A-G c.738A>G p.T246= Synonymous 14/33 - 1
7-73462524-A-T c.738A>T p.T246= Synonymous 14/33 - 1
7-73462525-G-A c.739G>A p.G247R Missense 14/33 - 5
7-73462525-G-C c.739G>C p.G247R Missense 14/33 - 5
7-73462524-AG-A c.741del p.T248Qfs*75 Frameshift 14/33 - 1
7-73462527-G-T c.741G>T p.G247= Synonymous 14/33 - 1
7-73462528-A-C c.742A>C p.T248P Missense 14/33 - 1
7-73462528-A-T c.742A>T p.T248S Missense 14/33 - 1
7-73462531-G-A c.745G>A p.G249R Missense 14/33 - 1
7-73462833-G-A c.746G>A p.G249E Missense 15/33 - 3
7-73462833-G-T c.746G>T p.G249V Missense 15/33 - 1
7-73462834-G-A c.747G>A p.G249= Synonymous 15/33 - 3
7-73462835-G-A c.748G>A p.V250I Missense 15/33 - 2
7-73462835-G-T c.748G>T p.V250F Missense 15/33 - 1
7-73462836-T-C c.749T>C p.V250A Missense 15/33 - 1
7-73462838-G-A c.751G>A p.G251S Missense 15/33 - 1
7-73462839-G-A c.752G>A p.G251D Missense 15/33 - 1
7-73462840-C-A c.753C>A p.G251= Synonymous 15/33 - 2
7-73462841-C-T c.754C>T p.P252S Missense 15/33 - 1
7-73462842-C-T c.755C>T p.P252L Missense 15/33 - 2
7-73462842-C-CCTGG c.756_757insTGGC p.Q253Wfs*10 Frameshift 15/33 - 1
7-73462843-C-T c.756C>T p.P252= Synonymous 15/33 - 1
7-73462844-C-G c.757C>G p.Q253E Missense 15/33 - 1
7-73462848-C-A c.761C>A p.A254E Missense 15/33 - 1
7-73462849-A-C c.762A>C p.A254= Synonymous 15/33 - 1
7-73462849-A-G c.762A>G p.A254= Synonymous 15/33 - 2
7-73462849-A-T c.762A>T p.A254= Synonymous 15/33 - 1
7-73462850-G-A c.763G>A p.A255T Missense 15/33 - 3
7-73462853-G-A c.766G>A p.A256T Missense 15/33 - 1
7-73462854-C-A c.767C>A p.A256E Missense 15/33 - 1
7-73462855-A-C c.768A>C p.A256= Synonymous 15/33 - 1
7-73462855-A-G c.768A>G p.A256= Synonymous 15/33 - 1
7-73462855-A-T c.768A>T p.A256= Synonymous 15/33 - 1
7-73462856-G-A c.769G>A p.A257T Missense 15/33 - 1
7-73462858-A-G c.771A>G p.A257= Synonymous 15/33 - 1
7-73462859-GC-AG c.772_773delinsAG p.A258R Missense 15/33 - 1
7-73462860-C-T c.773C>T p.A258V Missense 15/33 - 4
7-73462855-AGCAGCG-A c.774_779del p.A259_A260del InFrameDeletion 15/33 - 1
7-73462863-C-G c.776C>G p.A259G Missense 15/33 - 1
7-73462865-G-A c.778G>A p.A260T Missense 15/33 - 2
7-73462867-T-TGCA c.780_781insGCA p.A260dup InFrameInsertion 15/33 - 1
7-73462869-A-G c.782A>G p.K261R Missense 15/33 - 1
7-73462870-A-G c.783A>G p.K261= Synonymous 15/33 - 2
7-73462872-C-T c.785C>T p.A262V Missense 15/33 - 1
7-73462874-G-A c.787G>A p.A263T Missense 15/33 - 1
7-73462875-C-T c.788C>T p.A263V Missense 15/33 - 1
7-73462876-A-T c.789A>T p.A263= Synonymous 15/33 - 1
7-73462877-G-A c.790G>A p.A264T Missense 15/33 - 2
7-73462878-CAA-C c.793_794del p.K265Vfs*47 Frameshift 15/33 - 1
7-73462880-A-G c.793A>G p.K265E Missense 15/33 - 1
7-73462881-AAGTTCG-A c.794_799del p.K265_G267delinsS SpliceDonorDeletion 15/33 - 1
7-73462882-G-A c.795G>A p.K265= Synonymous 15/33 - 1
7-73462882-G-T c.795G>T p.K265N Missense 15/33 - 1
7-73462885-C-T c.798C>T p.F266= Synonymous 15/33 - 2
7-73462886-G-A c.799G>A p.G267S Missense 15/33 - 1
7-73462906-C-T c.799+20C>T - IntronicSNV - 15/32 1
7-73466080-G-A c.800G>A p.G267D Missense 16/33 - 1
7-73466081-T-A c.801T>A p.G267= Synonymous 16/33 - 2
7-73466081-T-C c.801T>C p.G267= Synonymous 16/33 - 1
7-73466081-T-G c.801T>G p.G267= Synonymous 16/33 - 1
7-73466082-G-C c.802G>C p.A268P Missense 16/33 - 1
7-73466085-G-A c.805G>A p.G269R Missense 16/33 - 1
7-73466085-G-T c.805G>T p.G269* Nonsense 16/33 - 2
7-73466086-G-C c.806G>C p.G269A Missense 16/33 - 3
7-73466089-C-T c.809C>T p.A270V Missense 16/33 - 1
7-73466090-A-C c.810A>C p.A270= Synonymous 16/33 - 1
7-73466090-A-G c.810A>G p.A270= Synonymous 16/33 - 1
7-73466090-A-T c.810A>T p.A270= Synonymous 16/33 - 1
7-73466092-C-A c.812C>A p.A271D Missense 16/33 - 1
7-73466092-C-T c.812C>T p.A271V Missense 16/33 - 1
7-73466093-C-A c.813C>A p.A271= Synonymous 16/33 - 1
7-73466093-C-G c.813C>G p.A271= Synonymous 16/33 - 1
7-73466093-C-T c.813C>T p.A271= Synonymous 16/33 - 1
7-73466094-G-A c.814G>A p.G272R Missense 16/33 - 1
7-73466094-GGA-G c.816_817del p.V273Pfs*39 Frameshift 16/33 - 1
7-73466096-A-C c.816A>C p.G272= Synonymous 16/33 - 1
7-73466096-A-G c.816A>G p.G272= Synonymous 16/33 - 1
7-73466096-A-T c.816A>T p.G272= Synonymous 16/33 - 1
7-73466097-G-A c.817G>A p.V273I Missense 16/33 - 1
7-73466102-C-T c.822C>T p.L274= Synonymous 16/33 - 1
7-73466103-C-G c.823C>G p.P275A Missense 16/33 - 1
7-73466107-G-T c.827G>T p.G276V Missense 16/33 - 1
7-73466109-G-T c.829G>T p.V277F Missense 16/33 - 1
7-73466110-T-C c.830T>C p.V277A Missense 16/33 - 1
7-73466112-G-A c.832G>A p.G278R Missense 16/33 - 4
7-73466112-GGA-TGG c.832_834delinsTGG p.G278W Missense 16/33 - 1
7-73466112-G-T c.832G>T p.G278* Nonsense 16/33 - 1
7-73466113-G-C c.833G>C p.G278A Missense 16/33 - 1
7-73466116-G-T c.836G>T p.G279V Missense 16/33 - 1
7-73466114-A-AG c.838dup p.A280Gfs*33 Frameshift 16/33 - 2
7-73466118-G-A c.838G>A p.A280T Missense 16/33 - 1
7-73466119-C-T c.839C>T p.A280V Missense 16/33 - 1
7-73466121-G-C c.841G>C p.G281R Missense 16/33 - 2
7-73466124-G-A c.844G>A p.V282I Missense 16/33 - 1
7-73466127-C-T c.847C>T p.P283S Missense 16/33 - 4
7-73466129-T-A c.849T>A p.P283= Synonymous 16/33 - 1
7-73466129-T-C c.849T>C p.P283= Synonymous 16/33 - 1
7-73466129-T-G c.849T>G p.P283= Synonymous 16/33 - 1
7-73466130-G-C c.850G>C p.G284R Missense 16/33 - 1
7-73466131-G-A c.851G>A p.G284D Missense 16/33 - 1
7-73466132-C-A c.852C>A p.G284= Synonymous 16/33 - 1
7-73466132-C-G c.852C>G p.G284= Synonymous 16/33 - 1
7-73466132-C-T c.852C>T p.G284= Synonymous 16/33 - 1
7-73466133-G-A c.853G>A p.V285M Missense 16/33 - 1
7-73466132-CGTGCCTGGG-C c.854_862del p.V285_G287del InFrameDeletion 16/33 - 1
7-73466136-C-T c.856C>T p.P286S Missense 16/33 - 1
7-73466140-GGGGCAA-G c.860_865del p.G287_I289delinsV MultiAAMissense 16/33 - 1
7-73466138-T-TG c.862dup p.A288Gfs*25 Frameshift 16/33 - 5
7-73466143-C-A c.863C>A p.A288E Missense 16/33 - 3
7-73466143-C-G c.863C>G p.A288G Missense 16/33 - 1
7-73466143-C-T c.863C>T p.A288V Missense 16/33 - 1
7-73466148-C-T c.868C>T p.P290S Missense 16/33 - 3
7-73466149-CT-AA c.869_870delinsAA p.P290Q Missense 16/33 - 1
7-73466151-G-A c.871G>A p.G291R Missense 16/33 - 7
7-73466151-G-C c.871G>C p.G291R Missense 16/33 - 2
7-73466151-G-T c.871G>T p.G291* Nonsense 16/33 - 1
7-73466152-G-T c.872G>T p.G291V Missense 16/33 - 1
7-73466149-CTGGAAT-C c.874_879del p.I292_G293del InFrameDeletion 16/33 - 1
7-73466154-A-G c.874A>G p.I292V Missense 16/33 - 1
7-73466158-G-C c.878G>C p.G293A Missense 16/33 - 1
7-73466160-G-C c.880G>C p.G294R Missense 16/33 - 2
7-73466161-GC-AG c.881_882delinsAG p.G294E Missense 16/33 - 2
7-73466161-G-T c.881G>T p.G294V Missense 16/33 - 1
7-73466162-GCA-G c.882_883del p.I295Rfs*17 Frameshift 16/33 - 1
7-73466165-C-G c.885C>G p.I295M Missense 16/33 - 1
7-73466165-C-T c.885C>T p.I295= Synonymous 16/33 - 2
7-73466166-G-A c.886G>A p.A296T Missense 16/33 - 3
7-73466166-G-T c.886G>T p.A296S Missense 16/33 - 2
7-73466165-CGCAGGTAACATCTGTCCCAGCAGGGGGCGGGTGTGTCCTTGAGATGGCCACAGGGCAAG-C c.887_890-29del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 16/33 16/32 1
7-73466167-C-T c.887C>T p.A296V Missense 16/33 - 2
7-73466169-G-A c.889G>A p.G297S Missense 16/33 - 1
7-73466169-G-T c.889G>T p.G297C Missense 16/33 - 1
7-73466171-T-C c.889+2T>C - IntronicSNV - 16/32 2
7-73466240-G-A c.890-14G>A - IntronicSNV - 16/32 1
7-73466256-G-A c.892G>A p.V298I Missense 17/33 - 1
7-73466256-G-T c.892G>T p.V298F Missense 17/33 - 1
7-73466258-T-C c.894T>C p.V298= Synonymous 17/33 - 1
7-73466258-TTG-T c.894_895del p.G299Dfs*13 Frameshift 17/33 - 1
7-73466259-G-A c.895G>A p.G299R Missense 17/33 - 1
7-73466259-G-C c.895G>C p.G299R Missense 17/33 - 1
7-73466259-G-T c.895G>T p.G299W Missense 17/33 - 1
7-73466260-G-A c.896G>A p.G299E Missense 17/33 - 1
7-73466262-A-T c.898A>T p.T300S Missense 17/33 - 1
7-73466263-C-T c.899C>T p.T300I Missense 17/33 - 1
7-73466265-C-G c.901C>G p.P301A Missense 17/33 - 1
7-73466265-C-T c.901C>T p.P301S Missense 17/33 - 1
7-73466266-C-T c.902C>T p.P301L Missense 17/33 - 2
7-73466268-G-A c.904G>A p.A302T Missense 17/33 - 1
7-73466269-C-T c.905C>T p.A302V Missense 17/33 - 1
7-73466267-AGCT-A c.906_908del p.A311del InFrameDeletion 17/33 - 1
7-73466271-G-A c.907G>A p.A303T Missense 17/33 - 1
7-73466271-G-T c.907G>T p.A303S Missense 17/33 - 1
7-73466272-C-T c.908C>T p.A303V Missense 17/33 - 1
7-73466273-A-G c.909A>G p.A303= Synonymous 17/33 - 1
7-73466273-CAG-C c.909_910del p.A304Cfs*8 Frameshift 17/33 - 1
7-73466274-G-T c.910G>T p.A304S Missense 17/33 - 1
7-73466276-T-A c.912T>A p.A304= Synonymous 17/33 - 1
7-73466276-T-C c.912T>C p.A304= Synonymous 17/33 - 1
7-73466276-T-G c.912T>G p.A304= Synonymous 17/33 - 1
7-73466278-CAGCTGCAGCAGCAGCC-GCT c.914_930delinsGCT p.A305Gfs*3 Frameshift 17/33 - 1
7-73466278-C-T c.914C>T p.A305V Missense 17/33 - 3
7-73466280-G-A c.916G>A p.A306T Missense 17/33 - 1
7-73466280-G-T c.916G>T p.A306S Missense 17/33 - 1
7-73466281-C-T c.917C>T p.A306V Missense 17/33 - 1
7-73466265-CCAGCTG-C c.918_923del p.A310_A311del InFrameDeletion 17/33 - 3
7-73466283-G-C c.919G>C p.A307P Missense 17/33 - 1
7-73466284-C-T c.920C>T p.A307V Missense 17/33 - 2
7-73466285-A-C c.921A>C p.A307= Synonymous 17/33 - 1
7-73466285-A-G c.921A>G p.A307= Synonymous 17/33 - 2
7-73466285-A-T c.921A>T p.A307= Synonymous 17/33 - 1
7-73466286-G-A c.922G>A p.A308T Missense 17/33 - 1
7-73466286-G-T c.922G>T p.A308S Missense 17/33 - 1
7-73466287-C-A c.923C>A p.A308E Missense 17/33 - 1
7-73466288-CAG-C c.924_925del p.A309Sfs*3 Frameshift 17/33 - 1
7-73466293-C-A c.929C>A p.A310D Missense 17/33 - 1
7-73466293-C-T c.929C>T p.A310V Missense 17/33 - 1
7-73466291-AGCC-A c.930_932del p.A311del InFrameDeletion 17/33 - 1
7-73466295-G-A c.931G>A p.A311T Missense 17/33 - 5
7-73466296-C-T c.932C>T p.A311V Missense 17/33 - 1
7-73466298-A-T c.934A>T p.K312* Nonsense 17/33 - 1
7-73466300-G-A c.936G>A p.K312= Synonymous 17/33 - 1
7-73466300-G-C c.936G>C p.K312N Missense 17/33 - 1
7-73466301-G-A c.937G>A p.A313T Missense 17/33 - 1
7-73466301-G-T c.937G>T p.A313S Missense 17/33 - 1
7-73466302-C-G c.938C>G p.A313G Missense 17/33 - 1
7-73466303-CAG-C c.939_940del p.A314Qfs*61 Frameshift 17/33 - 1
7-73466304-G-A c.940G>A p.A314T Missense 17/33 - 2
7-73466304-G-T c.940G>T p.A314S Missense 17/33 - 2
7-73466306-C-A c.942C>A p.A314= Synonymous 17/33 - 1
7-73466306-C-G c.942C>G p.A314= Synonymous 17/33 - 1
7-73466306-C-T c.942C>T p.A314= Synonymous 17/33 - 1
7-73466308-A-G c.944A>G p.K315R Missense 17/33 - 1
7-73466309-G-A c.945G>A p.K315= Synonymous 17/33 - 1
7-73466313-G-T c.949G>T p.G317* Nonsense 17/33 - 1
7-73467493-G-C c.950G>C p.G317A Missense 18/33 - 1
7-73467493-G-T c.950G>T p.G317V Missense 18/33 - 1
7-73467495-G-A c.952G>A p.A318T Missense 18/33 - 3
7-73467495-G-T c.952G>T p.A318S Missense 18/33 - 1
7-73467496-C-G c.953C>G p.A318G Missense 18/33 - 1
7-73467498-G-A c.955G>A p.A319T Missense 18/33 - 1
7-73467499-C-T c.956C>T p.A319V Missense 18/33 - 1
7-73467500-T-A c.957T>A p.A319= Synonymous 18/33 - 1
7-73467500-T-C c.957T>C p.A319= Synonymous 18/33 - 1
7-73467500-T-G c.957T>G p.A319= Synonymous 18/33 - 1
7-73467505-G-A c.962G>A p.G321D Missense 18/33 - 1
7-73467506-C-CCG c.963_964insCG p.L322Rfs*2 Frameshift 18/33 - 1
7-73467513-C-T c.970C>T p.P324S Missense 18/33 - 1
7-73467517-G-A c.974G>A p.G325D Missense 18/33 - 2
7-73467519-G-A c.976G>A p.G326R Missense 18/33 - 1
7-73467519-G-C c.976G>C p.G326R Missense 18/33 - 1
7-73467525-G-A c.982G>A p.G328S Missense 18/33 - 1
7-73467525-G-C c.982G>C p.G328R Missense 18/33 - 1
7-73467526-G-A c.983G>A p.G328D Missense 18/33 - 1
7-73467532-G-C c.989G>C p.G330A Missense 18/33 - 1
7-73467534-C-A c.991C>A p.P331T Missense 18/33 - 1
7-73467535-C-T c.992C>T p.P331L Missense 18/33 - 5
7-73467536-G-A c.993G>A p.P331= Synonymous 18/33 - 1
7-73467537-GGA-TGT c.994_996delinsTGT p.G332C Missense 18/33 - 1
7-73467538-G-A c.995G>A p.G332E Missense 18/33 - 1
7-73467538-G-T c.995G>T p.G332V Missense 18/33 - 1
7-73467541-T-A c.998T>A p.V333E Missense 18/33 - 1
7-73467548-T-G c.1005T>G p.G335= Synonymous 18/33 - 2
7-73467553-C-T c.1010C>T p.P337L Missense 18/33 - 1
7-73467555-G-A c.1012G>A p.G338R Missense 18/33 - 5
7-73467556-G-A c.1013G>A p.G338E Missense 18/33 - 3
7-73467561-G-A c.1018G>A p.G340S Missense 18/33 - 1
7-73467561-G-T c.1018G>T p.G340C Missense 18/33 - 1
7-73467563-C-T c.1020C>T p.G340= Synonymous 18/33 - 1
7-73467564-G-T c.1021G>T p.V341F Missense 18/33 - 1
7-73467570-G-C c.1027G>C p.G343R Missense 18/33 - 1
7-73467569-AG-A c.1028del p.G343Vfs*131 Frameshift 18/33 - 1
7-73467571-GT-AG c.1028_1029delinsAG p.G343E Missense 18/33 - 2
7-73467573-G-C c.1030G>C p.V344L Missense 18/33 - 1
7-73467574-T-C c.1031T>C p.V344A Missense 18/33 - 1
7-73467576-G-C c.1033G>C p.G345R Missense 18/33 - 1
7-73467579-G-A c.1036G>A p.V346I Missense 18/33 - 2
7-73467580-TC-T c.1040del p.P347Qfs*127 Frameshift 18/33 - 1
7-73467583-C-T c.1040C>T p.P347L Missense 18/33 - 1
7-73467586-G-A c.1043G>A p.G348E Missense 18/33 - 2
7-73467586-G-T c.1043G>T p.G348V Missense 18/33 - 1
7-73467589-C-T c.1046C>T p.A349V Missense 18/33 - 2
7-73467590-T-A c.1047T>A p.A349= Synonymous 18/33 - 1
7-73467590-T-C c.1047T>C p.A349= Synonymous 18/33 - 1
7-73467590-T-G c.1047T>G p.A349= Synonymous 18/33 - 1
7-73467592-G-A c.1049G>A p.G350E Missense 18/33 - 1
7-73467593-G-A c.1050G>A p.G350= Synonymous 18/33 - 1
7-73467600-G-A c.1057G>A p.V353I Missense 18/33 - 3
7-73467601-T-A c.1058T>A p.V353D Missense 18/33 - 1
7-73467602-T-A c.1059T>A p.V353= Synonymous 18/33 - 2
7-73467603-G-A c.1060G>A p.V354I Missense 18/33 - 1
7-73467603-G-T c.1060G>T p.V354F Missense 18/33 - 1
7-73467606-CCCAGGTGCTGGGATCCCAGGTGCT-C c.1063_1086del p.P355_A362del InFrameDeletion 18/33 - 1
7-73467606-C-T c.1063C>T p.P355S Missense 18/33 - 1
7-73467607-C-T c.1064C>T p.P355L Missense 18/33 - 1
7-73467610-G-A c.1067G>A p.G356D Missense 18/33 - 1
7-73467615-G-T c.1072G>T p.G358W Missense 18/33 - 3
7-73467620-C-A c.1077C>A p.I359= Synonymous 18/33 - 1
7-73467621-C-T c.1078C>T p.P360S Missense 18/33 - 1
7-73467623-A-C c.1080A>C p.P360= Synonymous 18/33 - 2
7-73467623-A-G c.1080A>G p.P360= Synonymous 18/33 - 1
7-73467623-A-T c.1080A>T p.P360= Synonymous 18/33 - 1
7-73467625-G-A c.1082G>A p.G361D Missense 18/33 - 2
7-73467630-G-A c.1087G>A p.A363T Missense 18/33 - 2
7-73467631-C-A c.1088C>A p.A363E Missense 18/33 - 1
7-73467631-C-T c.1088C>T p.A363V Missense 18/33 - 1
7-73467632-G-A c.1089G>A p.A363= Synonymous 18/33 - 3
7-73467632-G-C c.1089G>C p.A363= Synonymous 18/33 - 2
7-73467632-G-T c.1089G>T p.A363= Synonymous 18/33 - 2
7-73467637-C-T c.1094C>T p.P365L Missense 18/33 - 2
7-73467645-C-A c.1096+6C>A - IntronicSNV - 18/32 1
7-73467650-C-G c.1096+11C>G - IntronicSNV - 18/32 1
7-73467650-CTGTG-C c.1096+47_1096+50del - IntronicDeletion - 18/32 2
7-73467650-CTG-C c.1096+49_1096+50del - IntronicDeletion - 18/32 1
7-73467690-A-G c.1096+51A>G - IntronicSNV - 18/32 1
7-73467815-CTTAT-C c.1096+178_1096+181del - IntronicDeletion - 18/32 1
7-73469046-G-A c.1097G>A p.G366E Missense 19/33 - 3
7-73469047-G-A c.1098G>A p.G366= Synonymous 19/33 - 1
7-73469050-T-A c.1101T>A p.V367= Synonymous 19/33 - 1
7-73469050-T-C c.1101T>C p.V367= Synonymous 19/33 - 1
7-73469050-T-G c.1101T>G p.V367= Synonymous 19/33 - 1
7-73469051-GTG-ATC c.1102_1104delinsATC p.V368I Missense 19/33 - 1
7-73469052-T-A c.1103T>A p.V368E Missense 19/33 - 1
7-73469053-G-A c.1104G>A p.V368= Synonymous 19/33 - 1
7-73469053-G-C c.1104G>C p.V368= Synonymous 19/33 - 1
7-73469053-G-T c.1104G>T p.V368= Synonymous 19/33 - 1
7-73469054-T-TC c.1106dup p.P370Tfs*6 Frameshift 19/33 - 1
7-73469055-CA-TT c.1106_1107delinsTT p.S369F Missense 19/33 - 1
7-73469055-C-T c.1106C>T p.S369L Missense 19/33 - 2
7-73469056-A-C c.1107A>C p.S369= Synonymous 19/33 - 1
7-73469056-A-G c.1107A>G p.S369= Synonymous 19/33 - 1
7-73469056-A-T c.1107A>T p.S369= Synonymous 19/33 - 1
7-73469058-C-T c.1109C>T p.P370L Missense 19/33 - 1
7-73469060-G-A c.1111G>A p.E371K Missense 19/33 - 1
7-73469060-G-GA c.1113dup p.A372Sfs*4 Frameshift 19/33 - 1
7-73469064-C-T c.1115C>T p.A372V Missense 19/33 - 2
7-73469075-G-A c.1126G>A p.A376T Missense 19/33 - 1
7-73469076-C-A c.1127C>A p.A376E Missense 19/33 - 1
7-73469079-C-CT c.1131dup p.A378Cfs*86 Frameshift 19/33 - 1
7-73469081-G-A c.1132G>A p.A378T Missense 19/33 - 1
7-73469087-G-A c.1138G>A p.A380T Missense 19/33 - 4
7-73469087-G-T c.1138G>T p.A380S Missense 19/33 - 1
7-73469088-C-T c.1139C>T p.A380V Missense 19/33 - 1
7-73469090-G-A c.1141G>A p.A381T Missense 19/33 - 1
7-73469091-C-A c.1142C>A p.A381D Missense 19/33 - 1
7-73469091-C-T c.1142C>T p.A381V Missense 19/33 - 1
7-73469097-TACGGTGAGTGCTATGCTGACAGCTCTGCCCCACCCTGTCCTGGCCTTTACTTGCCAGAA-T c.1148_1150+56del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 19/33 19/32 1
7-73469098-C-T c.1149C>T p.Y383= Synonymous 19/33 - 2
7-73469099-G-A c.1150G>A p.G384R Missense 19/33 - 4
7-73469099-G-C c.1150G>C p.G384R Missense 19/33 - 2
7-73469099-G-T c.1150G>T p.G384W Missense 19/33 - 1
7-73469100-G-A c.1150+1G>A - IntronicSNV - 19/32 4
7-73469101-T-C c.1150+2T>C - IntronicSNV - 19/32 1
7-73469169-C-T c.1150+70C>T - IntronicSNV - 19/32 7
7-73470601-G-A c.1151G>A p.G384E Missense 20/33 - 1
7-73470599-AG-A c.1153del p.A385Pfs*89 Frameshift 20/33 - 1
7-73470603-G-A c.1153G>A p.A385T Missense 20/33 - 1
7-73470608-GC-G c.1161del p.G388Efs*86 Frameshift 20/33 - 2
7-73470611-C-A c.1161C>A p.P387= Synonymous 20/33 - 1
7-73470611-C-T c.1161C>T p.P387= Synonymous 20/33 - 2
7-73470612-G-A c.1162G>A p.G388R Missense 20/33 - 1
7-73470612-G-C c.1162G>C p.G388R Missense 20/33 - 1
7-73470612-G-T c.1162G>T p.G388* Nonsense 20/33 - 1
7-73470613-G-A c.1163G>A p.G388E Missense 20/33 - 1
7-73470615-G-A c.1165G>A p.V389I Missense 20/33 - 3
7-73470615-G-C c.1165G>C p.V389L Missense 20/33 - 1
7-73470617-C-A c.1167C>A p.V389= Synonymous 20/33 - 1
7-73470617-C-G c.1167C>G p.V389= Synonymous 20/33 - 1
7-73470617-C-T c.1167C>T p.V389= Synonymous 20/33 - 1
7-73470618-G-A c.1168G>A p.G390R Missense 20/33 - 3
7-73470619-G-A c.1169G>A p.G390E Missense 20/33 - 2
7-73470617-CGGAGTTGGAGGCATTCCTACTTACGGGGTTGGAGCTGGGGGCTTTCCCGGCTTT-C c.1170_1223del p.G393_G410del InFrameDeletion 20/33 - 1
7-73470625-G-T c.1175G>T p.G392V Missense 20/33 - 1
7-73470627-G-A c.1177G>A p.G393S Missense 20/33 - 1
7-73470620-AGTTGGAGGCATTCCTACTTACGGG-A c.1178_1201del p.G393_G400del InFrameDeletion 20/33 - 1
7-73470633-C-A c.1183C>A p.P395T Missense 20/33 - 1
7-73470633-C-CT c.1183_1184insT p.P395Lfs*69 Frameshift 20/33 - 1
7-73470634-C-T c.1184C>T p.P395L Missense 20/33 - 2
7-73470638-T-G c.1188T>G p.T396= Synonymous 20/33 - 1
7-73470639-TTACGGGGTTGGAGCTGGG-T c.1189_1206del p.Y397_G402del InFrameDeletion 20/33 - 1
7-73470641-C-T c.1191C>T p.Y397= Synonymous 20/33 - 1
7-73470642-G-A c.1192G>A p.G398R Missense 20/33 - 4
7-73470642-G-C c.1192G>C p.G398R Missense 20/33 - 2
7-73470642-G-T c.1192G>T p.G398W Missense 20/33 - 1
7-73470643-G-T c.1193G>T p.G398V Missense 20/33 - 1
7-73470641-CGGGGTTGGAGCTGGGGGCTTTCCCGGCTTTGGTGTCGGAGTCGGAGGTATCCCT-C c.1194_1247del p.G400_V417del InFrameDeletion 20/33 - 1
7-73470641-CG-C c.1195del p.V399Lfs*75 Frameshift 20/33 - 2
7-73470650-GA-G c.1200del p.A401Lfs*73 Frameshift 20/33 - 1
7-73470652-C-G c.1202C>G p.A401G Missense 20/33 - 1
7-73470653-T-TC c.1203_1204insC p.G402Rfs*62 Frameshift 20/33 - 1
7-73470655-G-A c.1205G>A p.G402E Missense 20/33 - 1
7-73470657-GG-AA c.1207_1208delinsAA p.G403N Missense 20/33 - 1
7-73470653-TG-T c.1208del p.G403Afs*71 Frameshift 20/33 - 1
7-73470658-G-A c.1208G>A p.G403D Missense 20/33 - 1
7-73470659-C-A c.1209C>A p.G403= Synonymous 20/33 - 1
7-73470659-C-G c.1209C>G p.G403= Synonymous 20/33 - 1
7-73470659-C-T c.1209C>T p.G403= Synonymous 20/33 - 1
7-73470665-C-A c.1215C>A p.P405= Synonymous 20/33 - 2
7-73470665-C-G c.1215C>G p.P405= Synonymous 20/33 - 2
7-73470665-C-T c.1215C>T p.P405= Synonymous 20/33 - 3
7-73470666-G-A c.1216G>A p.G406S Missense 20/33 - 2
7-73470666-G-C c.1216G>C p.G406R Missense 20/33 - 1
7-73470667-G-T c.1217G>T p.G406V Missense 20/33 - 3
7-73470672-G-A c.1222G>A p.G408S Missense 20/33 - 10
7-73470674-T-A c.1224T>A p.G408= Synonymous 20/33 - 1
7-73470674-T-C c.1224T>C p.G408= Synonymous 20/33 - 1
7-73470674-T-G c.1224T>G p.G408= Synonymous 20/33 - 1
7-73470676-T-TC c.1227dup p.G410Rfs*54 Frameshift 20/33 - 1
7-73470677-TC-T c.1227del p.G410Efs*64 Frameshift 20/33 - 1
7-73470679-G-A c.1229G>A p.G410E Missense 20/33 - 1
7-73470682-T-C c.1232T>C p.V411A Missense 20/33 - 1
7-73470682-T-G c.1232T>G p.V411G Missense 20/33 - 2
7-73470683-C-CGACT c.1234_1235insACTG p.G412Dfs*53 Frameshift 20/33 - 1
7-73470684-G-A c.1234G>A p.G412R Missense 20/33 - 6
7-73470684-GGA-AGC c.1234_1236delinsAGC p.G412S Missense 20/33 - 15
7-73470688-G-A c.1238G>A p.G413D Missense 20/33 - 1
7-73470688-G-C c.1238G>C p.G413A Missense 20/33 - 1
7-73470688-G-T c.1238G>T p.G413V Missense 20/33 - 1
7-73470688-GT-AG c.1238_1239delinsAG p.G413E Missense 20/33 - 2
7-73470696-G-A c.1246G>A p.G416R Missense 20/33 - 2
7-73470696-G-C c.1246G>C p.G416R Missense 20/33 - 2
7-73470699-G-A c.1249G>A p.V417I Missense 20/33 - 2
7-73470701-C-A c.1251C>A p.V417= Synonymous 20/33 - 1
7-73470701-C-G c.1251C>G p.V417= Synonymous 20/33 - 1
7-73470701-C-T c.1251C>T p.V417= Synonymous 20/33 - 1
7-73470702-G-A c.1252G>A p.A418T Missense 20/33 - 4
7-73470702-G-C c.1252G>C p.A418P Missense 20/33 - 1
7-73470702-G-T c.1252G>T p.A418S Missense 20/33 - 3
7-73470706-G-A c.1256G>A p.G419D Missense 20/33 - 1
7-73470706-G-C c.1256G>C p.G419A Missense 20/33 - 1
7-73470707-T-A c.1257T>A p.G419= Synonymous 20/33 - 1
7-73470707-T-C c.1257T>C p.G419= Synonymous 20/33 - 1
7-73470707-T-G c.1257T>G p.G419= Synonymous 20/33 - 1
7-73470708-G-A c.1258G>A p.V420I Missense 20/33 - 1
7-73470710-C-T c.1260C>T p.V420= Synonymous 20/33 - 1
7-73470711-C-T c.1261C>T p.P421S Missense 20/33 - 1
7-73470714-G-A c.1264G>A p.G422S Missense 20/33 - 54
7-73470714-G-C c.1264G>C p.G422R Missense 20/33 - 26
7-73470716-T-A c.1266T>A p.G422= Synonymous 20/33 - 2
7-73470716-T-C c.1266T>C p.G422= Synonymous 20/33 - 2
7-73470716-T-G c.1266T>G p.G422= Synonymous 20/33 - 2
7-73470717-G-A c.1267G>A p.V423I Missense 20/33 - 1
7-73470719-C-A c.1269C>A p.V423= Synonymous 20/33 - 1
7-73470719-C-G c.1269C>G p.V423= Synonymous 20/33 - 1
7-73470719-C-T c.1269C>T p.V423= Synonymous 20/33 - 2
7-73470720-G-A c.1270G>A p.G424R Missense 20/33 - 3
7-73470720-G-C c.1270G>C p.G424R Missense 20/33 - 2
7-73470720-GGA-AAC c.1270_1272delinsAAC p.G424N Missense 20/33 - 1
7-73470721-G-A c.1271G>A p.G424E Missense 20/33 - 3
7-73470721-G-C c.1271G>C p.G424A Missense 20/33 - 1
7-73470724-G-C c.1274G>C p.G425A Missense 20/33 - 3
7-73470724-GT-AG c.1274_1275delinsAG p.G425E Missense 20/33 - 3
7-73470728-T-C c.1278T>C p.V426= Synonymous 20/33 - 3
7-73470729-C-T c.1279C>T p.P427S Missense 20/33 - 1
7-73470729-TCCC-T c.1279_1281del p.P427del InFrameDeletion 20/33 - 1
7-73470730-C-T c.1280C>T p.P427L Missense 20/33 - 1
7-73470731-C-T c.1281C>T p.P427= Synonymous 20/33 - 2
7-73470732-G-A c.1282G>A p.G428R Missense 20/33 - 1
7-73470743-T-A c.1293T>A p.G431= Synonymous 20/33 - 2
7-73470743-T-C c.1293T>C p.G431= Synonymous 20/33 - 2
7-73470743-T-G c.1293T>G p.G431= Synonymous 20/33 - 2
7-73470744-G-A c.1294G>A p.V432I Missense 20/33 - 3
7-73470744-GTC-ATG c.1294_1296delinsATG p.V432M Missense 20/33 - 1
7-73470745-T-A c.1295T>A p.V432D Missense 20/33 - 1
7-73470745-T-TG c.1295_1296insG p.V435Sfs*29 Frameshift 20/33 - 1
7-73470747-C-T c.1297C>T p.P433S Missense 20/33 - 1
7-73470748-C-T c.1298C>T p.P433L Missense 20/33 - 1
7-73470749-G-A c.1299G>A p.P433= Synonymous 20/33 - 2
7-73470749-G-C c.1299G>C p.P433= Synonymous 20/33 - 1
7-73470749-G-T c.1299G>T p.P433= Synonymous 20/33 - 1
7-73470750-G-A c.1300G>A p.G434R Missense 20/33 - 1
7-73470750-G-C c.1300G>C p.G434R Missense 20/33 - 1
7-73470750-GGA-AAC c.1300_1302delinsAAC p.G434N Missense 20/33 - 2
7-73470751-G-A c.1301G>A p.G434E Missense 20/33 - 2
7-73470753-G-A c.1303G>A p.V435I Missense 20/33 - 1
7-73470753-G-C c.1303G>C p.V435L Missense 20/33 - 1
7-73470754-T-C c.1304T>C p.V435A Missense 20/33 - 1
7-73470762-T-G c.1312T>G p.S438A Missense 20/33 - 1
7-73470763-C-G c.1313C>G p.S438C Missense 20/33 - 1
7-73470764-C-T c.1314C>T p.S438= Synonymous 20/33 - 1
7-73470765-C-A c.1315C>A p.P439T Missense 20/33 - 1
7-73470765-C-T c.1315C>T p.P439S Missense 20/33 - 2
7-73470766-G-A c.1315+1G>A - IntronicSNV - 20/32 1
7-73470766-G-T c.1315+1G>T - IntronicSNV - 20/32 1
7-73470770-G-A c.1315+5G>A - IntronicSNV - 20/32 1
7-73470782-C-T c.1315+17C>T - IntronicSNV - 20/32 13
7-73471003-C-A c.1317C>A p.P439= Synonymous 21/33 - 2
7-73471003-C-G c.1317C>G p.P439= Synonymous 21/33 - 2
7-73471003-C-T c.1317C>T p.P439= Synonymous 21/33 - 5
7-73471004-G-A c.1318G>A p.E440K Missense 21/33 - 1
7-73471007-G-A c.1321G>A p.A441T Missense 21/33 - 1
7-73471008-C-G c.1322C>G p.A441G Missense 21/33 - 1
7-73471008-C-T c.1322C>T p.A441V Missense 21/33 - 2
7-73471010-C-G c.1324C>G p.Q442E Missense 21/33 - 1
7-73471010-C-T c.1324C>T p.Q442* Nonsense 21/33 - 5
7-73471013-G-T c.1327G>T p.A443S Missense 21/33 - 1
7-73471014-C-T c.1328C>T p.A443V Missense 21/33 - 1
7-73471016-G-A c.1330G>A p.A444T Missense 21/33 - 1
7-73471016-G-T c.1330G>T p.A444S Missense 21/33 - 1
7-73471019-G-C c.1333G>C p.A445P Missense 21/33 - 1
7-73471020-C-A c.1334C>A p.A445D Missense 21/33 - 1
7-73471022-G-T c.1336G>T p.A446S Missense 21/33 - 1
7-73471023-C-G c.1337C>G p.A446G Missense 21/33 - 1
7-73471023-C-T c.1337C>T p.A446V Missense 21/33 - 2
7-73471024-CCGCCAAGGCTGCCAAGTACGGTAAGTGCCCCTGCCCTGCCTGTCCCCAAGTCCTGCTCT-C c.1339_1357+40del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 21/33 21/32 1
7-73471025-G-A c.1339G>A p.A447T Missense 21/33 - 4
7-73471025-G-T c.1339G>T p.A447S Missense 21/33 - 1
7-73471026-CC-AG c.1340_1341delinsAG p.A447E Missense 21/33 - 1
7-73471029-A-C c.1343A>C p.K448T Missense 21/33 - 1
7-73471029-A-T c.1343A>T p.K448M Missense 21/33 - 1
7-73471031-G-C c.1345G>C p.A449P Missense 21/33 - 1
7-73471034-G-A c.1348G>A p.A450T Missense 21/33 - 2
7-73471035-C-G c.1349C>G p.A450G Missense 21/33 - 1
7-73471037-CAAGTACGGTAAGTGCCCCTGCCCTGCCTGTCCCCAAGTCCTGCTCTCCCGCGGGGCTCA-C c.1351_1357+52del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 21/33 21/32 1
7-73471041-A-C c.1355A>C p.Y452S Missense 21/33 - 1
7-73471042-C-T c.1356C>T p.Y452= Synonymous 21/33 - 1
7-73471043-G-A c.1357G>A p.G453R Missense 21/33 - 2
7-73471044-G-A c.1357+1G>A - IntronicSNV - 21/32 1
7-73471044-G-T c.1357+1G>T - IntronicSNV - 21/32 1
7-73471439-G-A c.1357+396G>A - IntronicSNV - 21/32 1
7-73471717-G-A c.1358-253G>A - IntronicSNV - 21/32 2
7-73471738-G-C c.1358-232G>C - IntronicSNV - 21/32 1
7-73471745-T-C c.1358-225T>C - IntronicSNV - 21/32 2
7-73471771-G-A c.1358-199G>A - IntronicSNV - 21/32 1
7-73471970-G-A c.1358G>A p.G453E Missense 22/33 - 1
7-73471972-G-C c.1360G>C p.V454L Missense 22/33 - 1
7-73471975-G-A c.1363G>A p.G455R Missense 22/33 - 5
7-73471975-G-T c.1363G>T p.G455W Missense 22/33 - 1
7-73471976-G-A c.1364G>A p.G455E Missense 22/33 - 1
7-73471976-GGGACCCCAGCAGCTGCAGCTGCTAAAGCAGCCGCCAAAGCCGCCCAGTTTGGTAAGTCC-G c.1364_1414+8del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 22/33 22/32 1
7-73471982-C-T c.1370C>T p.P457L Missense 22/33 - 1
7-73471983-A-AC c.1371_1372insC p.A458Rfs*6 Frameshift 22/33 - 1
7-73471984-G-C c.1372G>C p.A458P Missense 22/33 - 1
7-73471985-C-T c.1373C>T p.A458V Missense 22/33 - 1
7-73471987-G-A c.1375G>A p.A459T Missense 22/33 - 1
7-73471987-G-C c.1375G>C p.A459P Missense 22/33 - 1
7-73471988-C-T c.1376C>T p.A459V Missense 22/33 - 1
7-73471991-GCAGCTGCTAAAGCAGCCGCCAAAGCCGCCCAGTTTGGTAAGTCCCCCTCACCCCCGCCA-G c.1380_1414+24del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 22/33 22/32 1
7-73471992-A-C c.1380A>C p.A460= Synonymous 22/33 - 1
7-73471993-G-A c.1381G>A p.A461T Missense 22/33 - 1
7-73471993-G-T c.1381G>T p.A461S Missense 22/33 - 2
7-73471994-C-G c.1382C>G p.A461G Missense 22/33 - 1
7-73471995-T-C c.1383T>C p.A461= Synonymous 22/33 - 1
7-73471995-T-TC c.1383_1384insC p.A462Rfs*2 Frameshift 22/33 - 1
7-73471998-T-A c.1386T>A p.A462= Synonymous 22/33 - 1
7-73471998-T-C c.1386T>C p.A462= Synonymous 22/33 - 1
7-73471998-T-G c.1386T>G p.A462= Synonymous 22/33 - 1
7-73472000-A-G c.1388A>G p.K463R Missense 22/33 - 2
7-73472002-G-C c.1390G>C p.A464P Missense 22/33 - 1
7-73472004-A-AG c.1393dup p.A465Gfs*127 Frameshift 22/33 - 1
7-73472006-GCCGCCAAAGCCGCCCAGTTTGGTAAGTCCCCCTCACCCCCGCCACTGGCTCACGGAGAA-G c.1395_1414+39del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 22/33 22/32 1
7-73472008-G-A c.1396G>A p.A466T Missense 22/33 - 1
7-73472008-G-C c.1396G>C p.A466P Missense 22/33 - 1
7-73472009-C-T c.1397C>T p.A466V Missense 22/33 - 2
7-73472008-G-GC c.1398dup p.K467Qfs*125 Frameshift 22/33 - 1
7-73472010-C-T c.1398C>T p.A466= Synonymous 22/33 - 1
7-73472013-A-G c.1401A>G p.K467= Synonymous 22/33 - 1
7-73472014-G-A c.1402G>A p.A468T Missense 22/33 - 1
7-73472014-G-C c.1402G>C p.A468P Missense 22/33 - 1
7-73472015-C-T c.1403C>T p.A468V Missense 22/33 - 2
7-73472019-CCCAGTTTGGTAAGTCCCCCTCACCCCCGCCACTGGCTCACGGAGAACTGCTTTCTCCTG-C c.1407_1414+51del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 22/33 22/32 1
7-73472020-C-T c.1408C>T p.Q470* Nonsense 22/33 - 1
7-73472022-G-A c.1410G>A p.Q470= Synonymous 22/33 - 2
7-73472023-GTTTGGTAAGTCCCCCTCACCCCCGCCACTGGCTCACGGAGAACTGCTTTCTCCTGTGCC-G c.1411_1414+55del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 22/33 22/32 1
7-73472025-T-TC c.1413_1414insC p.G472Rfs*120 SpliceDonorInsertion 22/33 - 1
7-73472026-G-A c.1414G>A p.G472R Missense 22/33 - 1
7-73472050-C-T c.1414+24C>T - IntronicSNV - 22/32 9
7-73473494-T-C c.1415-722T>C - IntronicSNV - 22/32 6
7-73474216-G-A c.1415G>A p.G472E Missense 23/33 - 1
7-73474216-G-C c.1415G>C p.G472A Missense 23/33 - 1
7-73474217-G-A c.1416G>A p.G472= Synonymous 23/33 - 1
7-73474217-G-C c.1416G>C p.G472= Synonymous 23/33 - 1
7-73474217-G-T c.1416G>T p.G472= Synonymous 23/33 - 1
7-73474218-T-C c.1417T>C p.L473= Synonymous 23/33 - 3
7-73474218-T-G c.1417T>G p.L473V Missense 23/33 - 1
7-73474220-A-G c.1419A>G p.L473= Synonymous 23/33 - 3
7-73474220-A-C c.1419A>C p.L473F Missense 23/33 - 1
7-73474220-A-T c.1419A>T p.L473F Missense 23/33 - 1
7-73474221-GTT-ATG c.1420_1422delinsATG p.V474M Missense 23/33 - 1
7-73474222-T-C c.1421T>C p.V474A Missense 23/33 - 2
7-73474224-C-T c.1423C>T p.P475S Missense 23/33 - 4
7-73474226-T-A c.1425T>A p.P475= Synonymous 23/33 - 1
7-73474226-T-C c.1425T>C p.P475= Synonymous 23/33 - 1
7-73474226-T-G c.1425T>G p.P475= Synonymous 23/33 - 1
7-73474227-G-A c.1426G>A p.G476S Missense 23/33 - 2
7-73474229-T-TC c.1428_1429insC p.V477Rfs*115 Frameshift 23/33 - 1
7-73474230-G-GCTCCTCC c.1429_1430insCTCCTCC p.V477Afs*117 Frameshift 23/33 - 1
7-73474232-TCGGCGTG-T c.1431_1437del p.G478Lfs*133 Frameshift 23/33 - 1
7-73474233-G-C c.1432G>C p.G478R Missense 23/33 - 4
7-73474233-GGC-TGG c.1432_1434delinsTGG p.G478W Missense 23/33 - 1
7-73474233-G-T c.1432G>T p.G478C Missense 23/33 - 1
7-73474234-GC-AG c.1433_1434delinsAG p.G478E Missense 23/33 - 1
7-73474236-G-C c.1435G>C p.V479L Missense 23/33 - 1
7-73474236-G-T c.1435G>T p.V479L Missense 23/33 - 1
7-73474235-CGTGGCTCCTGGAGTTGGCGTGGCTCCT-C c.1436_1462del p.V479_P487del InFrameDeletion 23/33 - 1
7-73474238-G-A c.1437G>A p.V479= Synonymous 23/33 - 1
7-73474238-G-C c.1437G>C p.V479= Synonymous 23/33 - 1
7-73474238-G-T c.1437G>T p.V479= Synonymous 23/33 - 1
7-73474242-C-G c.1441C>G p.P481A Missense 23/33 - 1
7-73474242-C-T c.1441C>T p.P481S Missense 23/33 - 2
7-73474241-T-TC c.1442dup p.G482Wfs*110 Frameshift 23/33 - 1
7-73474243-C-G c.1442C>G p.P481R Missense 23/33 - 1
7-73474244-T-A c.1443T>A p.P481= Synonymous 23/33 - 2
7-73474244-T-C c.1443T>C p.P481= Synonymous 23/33 - 1
7-73474244-T-G c.1443T>G p.P481= Synonymous 23/33 - 1
7-73474245-G-A c.1444G>A p.G482R Missense 23/33 - 2
7-73474245-G-C c.1444G>C p.G482R Missense 23/33 - 1
7-73474246-G-A c.1445G>A p.G482E Missense 23/33 - 2
7-73474232-CGGCGTGGCTCCTGGAGTT-C c.1446_1463del p.V491_G496del InFrameDeletion 23/33 - 1
7-73474247-A-G c.1446A>G p.G482= Synonymous 23/33 - 1
7-73474247-A-T c.1446A>T p.G482= Synonymous 23/33 - 1
7-73474248-G-C c.1447G>C p.V483L Missense 23/33 - 1
7-73474247-AGTTGGCGTGGCTCCT-A c.1448_1462del p.V483_P487del InFrameDeletion 23/33 - 1
7-73474251-G-C c.1450G>C p.G484R Missense 23/33 - 2
7-73474253-C-A c.1452C>A p.G484= Synonymous 23/33 - 1
7-73474253-C-G c.1452C>G p.G484= Synonymous 23/33 - 1
7-73474253-C-T c.1452C>T p.G484= Synonymous 23/33 - 1
7-73474235-CGTGGCTCCTGGAGTTGGCGTGGCTCCTGGTGTCGGT-C c.1453_1488del p.V485_G496del InFrameDeletion 23/33 - 1
7-73474254-G-A c.1453G>A p.V485M Missense 23/33 - 1
7-73474254-GTG-ATC c.1453_1455delinsATC p.V485I Missense 23/33 - 1
7-73474256-G-A c.1455G>A p.V485= Synonymous 23/33 - 1
7-73474257-G-T c.1456G>T p.A486S Missense 23/33 - 1
7-73474258-C-G c.1457C>G p.A486G Missense 23/33 - 1
7-73474258-C-T c.1457C>T p.A486V Missense 23/33 - 1
7-73474259-T-A c.1458T>A p.A486= Synonymous 23/33 - 1
7-73474259-T-C c.1458T>C p.A486= Synonymous 23/33 - 2
7-73474259-T-G c.1458T>G p.A486= Synonymous 23/33 - 1
7-73474260-C-T c.1459C>T p.P487S Missense 23/33 - 2
7-73474236-GTGGCTCCTGGAGTTGGCGTGGCTCCTGGTGTCGGTGTGGCTCCTGGAGTTGGCT-G c.1464_1517del p.L497_G514del InFrameDeletion 23/33 - 1
7-73474253-CGTGGCTCCTGGTGTCGGT-C c.1464_1481del p.V491_G496del InFrameDeletion 23/33 - 1
7-73474265-T-A c.1464T>A p.G488= Synonymous 23/33 - 2
7-73474265-T-C c.1464T>C p.G488= Synonymous 23/33 - 2
7-73474265-T-G c.1464T>G p.G488= Synonymous 23/33 - 2
7-73474266-G-A c.1465G>A p.V489I Missense 23/33 - 2
7-73474267-T-C c.1466T>C p.V489A Missense 23/33 - 1
7-73474268-C-A c.1467C>A p.V489= Synonymous 23/33 - 1
7-73474268-C-G c.1467C>G p.V489= Synonymous 23/33 - 1
7-73474268-C-T c.1467C>T p.V489= Synonymous 23/33 - 3
7-73474269-G-A c.1468G>A p.G490S Missense 23/33 - 3
7-73474271-T-A c.1470T>A p.G490= Synonymous 23/33 - 1
7-73474271-T-C c.1470T>C p.G490= Synonymous 23/33 - 2
7-73474271-T-G c.1470T>G p.G490= Synonymous 23/33 - 1
7-73474271-T-TC c.1470_1471insC p.V491Rfs*101 Frameshift 23/33 - 1
7-73474275-G-A c.1474G>A p.A492T Missense 23/33 - 2
7-73474279-C-T c.1478C>T p.P493L Missense 23/33 - 3
7-73474282-G-A c.1481G>A p.G494E Missense 23/33 - 1
7-73474282-G-C c.1481G>C p.G494A Missense 23/33 - 2
7-73474283-A-C c.1482A>C p.G494= Synonymous 23/33 - 1
7-73474283-A-G c.1482A>G p.G494= Synonymous 23/33 - 1
7-73474283-A-T c.1482A>T p.G494= Synonymous 23/33 - 1
7-73474283-GA-G c.1482del p.V495Lfs*118 Frameshift 23/33 - 1
7-73474286-T-A c.1485T>A p.V495= Synonymous 23/33 - 1
7-73474286-T-C c.1485T>C p.V495= Synonymous 23/33 - 1
7-73474286-T-G c.1485T>G p.V495= Synonymous 23/33 - 1
7-73474286-T-TC c.1485_1486insC p.G496Rfs*96 Frameshift 23/33 - 1
7-73474287-G-A c.1486G>A p.G496S Missense 23/33 - 4
7-73474288-GC-AG c.1487_1488delinsAG p.G496E Missense 23/33 - 2
7-73474288-G-T c.1487G>T p.G496V Missense 23/33 - 1
7-73474288-G-GC c.1488dup p.A498Gfs*94 Frameshift 23/33 - 1
7-73474289-C-A c.1488C>A p.G496= Synonymous 23/33 - 1
7-73474289-C-G c.1488C>G p.G496= Synonymous 23/33 - 1
7-73474289-C-T c.1488C>T p.G496= Synonymous 23/33 - 1
7-73474290-T-G c.1489T>G p.L497V Missense 23/33 - 2
7-73474293-G-A c.1492G>A p.A498T Missense 23/33 - 1
7-73474293-G-T c.1492G>T p.A498S Missense 23/33 - 1
7-73474296-C-A c.1495C>A p.P499T Missense 23/33 - 1
7-73474296-C-T c.1495C>T p.P499S Missense 23/33 - 3
7-73474297-C-G c.1496C>G p.P499R Missense 23/33 - 1
7-73474299-G-A c.1498G>A p.G500R Missense 23/33 - 6
7-73474299-G-C c.1498G>C p.G500R Missense 23/33 - 6
7-73474300-G-A c.1499G>A p.G500E Missense 23/33 - 2
7-73474300-G-C c.1499G>C p.G500A Missense 23/33 - 1
7-73474301-A-C c.1500A>C p.G500= Synonymous 23/33 - 1
7-73474301-A-G c.1500A>G p.G500= Synonymous 23/33 - 1
7-73474301-A-T c.1500A>T p.G500= Synonymous 23/33 - 1
7-73474302-G-A c.1501G>A p.V501I Missense 23/33 - 2
7-73474305-GGC-TGG c.1504_1506delinsTGG p.G502W Missense 23/33 - 1
7-73474306-G-A c.1505G>A p.G502D Missense 23/33 - 1
7-73474306-G-C c.1505G>C p.G502A Missense 23/33 - 1
7-73474306-G-T c.1505G>T p.G502V Missense 23/33 - 1
7-73474307-C-A c.1506C>A p.G502= Synonymous 23/33 - 1
7-73474307-C-G c.1506C>G p.G502= Synonymous 23/33 - 1
7-73474307-C-T c.1506C>T p.G502= Synonymous 23/33 - 3
7-73474308-G-A c.1507G>A p.V503M Missense 23/33 - 1
7-73474308-G-T c.1507G>T p.V503L Missense 23/33 - 3
7-73474308-GTG-ATC c.1507_1509delinsATC p.V503I Missense 23/33 - 1
7-73474309-T-C c.1508T>C p.V503A Missense 23/33 - 2
7-73474314-C-T c.1513C>T p.P505S Missense 23/33 - 2
7-73474318-G-A c.1517G>A p.G506E Missense 23/33 - 1
7-73474318-G-C c.1517G>C p.G506A Missense 23/33 - 1
7-73474320-G-A c.1519G>A p.V507I Missense 23/33 - 1
7-73474320-G-C c.1519G>C p.V507L Missense 23/33 - 1
7-73474320-G-T c.1519G>T p.V507F Missense 23/33 - 1
7-73474323-G-C c.1522G>C p.G508R Missense 23/33 - 2
7-73474323-G-T c.1522G>T p.G508C Missense 23/33 - 2
7-73474324-G-A c.1523G>A p.G508D Missense 23/33 - 1
7-73474320-GTTGGTGTGGCTCCTGGCGTTGGCGTGGCTCCCGGCA-G c.1524_1559del p.V509_G520del InFrameDeletion 23/33 - 1
7-73474325-T-A c.1524T>A p.G508= Synonymous 23/33 - 3
7-73474325-T-C c.1524T>C p.G508= Synonymous 23/33 - 3
7-73474325-T-G c.1524T>G p.G508= Synonymous 23/33 - 3
7-73474322-TGGTGTGGCTCCTGGCGTTGGCGTGGCTCCCGGCATTGGCCCTGGTGGAGTTGCA-T c.1526_1576+3del - SpliceDonorDeletion 23/33 23/32 1
7-73474329-G-A c.1528G>A p.A510T Missense 23/33 - 1
7-73474329-G-C c.1528G>C p.A510P Missense 23/33 - 1
7-73474329-G-T c.1528G>T p.A510S Missense 23/33 - 2
7-73474332-C-T c.1531C>T p.P511S Missense 23/33 - 1
7-73474334-T-C c.1533T>C p.P511= Synonymous 23/33 - 1
7-73474335-G-C c.1534G>C p.G512R Missense 23/33 - 1
7-73474335-G-T c.1534G>T p.G512C Missense 23/33 - 1
7-73474335-TGGCGTTGGCGTGGCTCCCGGCATTGGC-T c.1534_1560del p.G512_G520del InFrameDeletion 23/33 - 1
7-73474336-GC-AG c.1535_1536delinsAG p.G512E Missense 23/33 - 4
7-73474337-C-A c.1536C>A p.G512= Synonymous 23/33 - 1
7-73474337-C-G c.1536C>G p.G512= Synonymous 23/33 - 1
7-73474337-C-T c.1536C>T p.G512= Synonymous 23/33 - 1
7-73474338-G-A c.1537G>A p.V513I Missense 23/33 - 3
7-73474338-GTT-ATG c.1537_1539delinsATG p.V513M Missense 23/33 - 1
7-73474342-G-C c.1541G>C p.G514A Missense 23/33 - 1
7-73474343-C-A c.1542C>A p.G514= Synonymous 23/33 - 1
7-73474343-C-G c.1542C>G p.G514= Synonymous 23/33 - 1
7-73474343-C-T c.1542C>T p.G514= Synonymous 23/33 - 1
7-73474347-G-A c.1546G>A p.A516T Missense 23/33 - 3
7-73474347-G-T c.1546G>T p.A516S Missense 23/33 - 1
7-73474348-C-A c.1547C>A p.A516D Missense 23/33 - 1
7-73474350-C-T c.1549C>T p.P517S Missense 23/33 - 3
7-73474351-C-T c.1550C>T p.P517L Missense 23/33 - 2
7-73474349-TCCCGGCATTGGCCCTGGTGGAGTTGCAGGTGAGTTTCATGAGTCAATGAGCCTGAGGGG-T c.1552_1576+34del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 23/33 23/32 1
7-73474352-C-A c.1551C>A p.P517= Synonymous 23/33 - 1
7-73474352-C-G c.1551C>G p.P517= Synonymous 23/33 - 1
7-73474352-C-T c.1551C>T p.P517= Synonymous 23/33 - 1
7-73474353-G-A c.1552G>A p.G518S Missense 23/33 - 2
7-73474353-G-C c.1552G>C p.G518R Missense 23/33 - 2
7-73474355-C-A c.1554C>A p.G518= Synonymous 23/33 - 1
7-73474355-C-G c.1554C>G p.G518= Synonymous 23/33 - 1
7-73474355-C-T c.1554C>T p.G518= Synonymous 23/33 - 1
7-73474358-T-TC c.1557_1558insC p.G520Rfs*72 Frameshift 23/33 - 1
7-73474361-C-A c.1560C>A p.G520= Synonymous 23/33 - 1
7-73474361-C-G c.1560C>G p.G520= Synonymous 23/33 - 1
7-73474361-C-T c.1560C>T p.G520= Synonymous 23/33 - 1
7-73474363-C-T c.1562C>T p.P521L Missense 23/33 - 2
7-73474364-T-A c.1563T>A p.P521= Synonymous 23/33 - 1
7-73474365-G-A c.1564G>A p.G522S Missense 23/33 - 2
7-73474365-G-T c.1564G>T p.G522C Missense 23/33 - 1
7-73474366-G-A c.1565G>A p.G522D Missense 23/33 - 1
7-73474366-G-T c.1565G>T p.G522V Missense 23/33 - 2
7-73474367-T-A c.1566T>A p.G522= Synonymous 23/33 - 3
7-73474368-G-A c.1567G>A p.G523R Missense 23/33 - 1
7-73474368-G-C c.1567G>C p.G523R Missense 23/33 - 1
7-73474369-G-A c.1568G>A p.G523E Missense 23/33 - 3
7-73474371-G-A c.1570G>A p.V524I Missense 23/33 - 1
7-73474374-G-A c.1573G>A p.A525T Missense 23/33 - 1
7-73474374-G-C c.1573G>C p.A525P Missense 23/33 - 1
7-73474374-GCA-TGT c.1573_1575delinsTGT p.A525C Missense 23/33 - 1
7-73474377-G-T c.1576G>T p.A526S Missense 23/33 - 1
7-73474470-C-G c.1577C>G p.A526G Missense 24/33 - 1
7-73474472-G-T c.1579G>T p.A527S Missense 24/33 - 1
7-73474473-C-T c.1580C>T p.A527V Missense 24/33 - 2
7-73474476-C-G c.1583C>G p.A528G Missense 24/33 - 1
7-73474482-C-T c.1589C>T p.S530F Missense 24/33 - 3
7-73474483-C-A c.1590C>A p.S530= Synonymous 24/33 - 1
7-73474483-C-G c.1590C>G p.S530= Synonymous 24/33 - 1
7-73474483-C-T c.1590C>T p.S530= Synonymous 24/33 - 3
7-73474484-CGCTGCCAAGGTGGCTGCCAAAGCCCAG-C c.1591_1617del p.A531_Q539del InFrameDeletion 24/33 - 1
7-73474484-G-A c.1591G>A p.A531T Missense 24/33 - 1
7-73474486-T-C c.1593T>C p.A531= Synonymous 24/33 - 1
7-73474487-G-A c.1594G>A p.A532T Missense 24/33 - 1
7-73474487-G-T c.1594G>T p.A532S Missense 24/33 - 1
7-73474488-CC-AG c.1595_1596delinsAG p.A532E Missense 24/33 - 1
7-73474488-C-G c.1595C>G p.A532G Missense 24/33 - 1
7-73474490-A-G c.1597A>G p.K533E Missense 24/33 - 1
7-73474491-A-G c.1598A>G p.K533R Missense 24/33 - 2
7-73474492-G-A c.1599G>A p.K533= Synonymous 24/33 - 1
7-73474497-C-G c.1604C>G p.A535G Missense 24/33 - 1
7-73474499-G-A c.1606G>A p.A536T Missense 24/33 - 1
7-73474499-G-C c.1606G>C p.A536P Missense 24/33 - 1
7-73474499-G-T c.1606G>T p.A536S Missense 24/33 - 2
7-73474500-GCCAAAGCCCAGCTCCGTGAGTGCCTCGCCCACCTTTCTCTCCTCTCCCCAACGATCTCA-G c.1607_1621+44del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 24/33 24/32 1
7-73474504-A-G c.1611A>G p.K537= Synonymous 24/33 - 1
7-73474505-G-A c.1612G>A p.A538T Missense 24/33 - 1
7-73474506-C-T c.1613C>T p.A538V Missense 24/33 - 1
7-73474507-C-A c.1614C>A p.A538= Synonymous 24/33 - 1
7-73474507-C-G c.1614C>G p.A538= Synonymous 24/33 - 1
7-73474507-C-T c.1614C>T p.A538= Synonymous 24/33 - 1
7-73474510-G-A c.1617G>A p.Q539= Synonymous 24/33 - 1
7-73474513-C-A c.1620C>A p.L540= Synonymous 24/33 - 1
7-73474513-C-CA c.1620_1621insA p.R541Tfs*51 SpliceDonorInsertion 24/33 - 1
7-73474513-C-CG c.1620_1621insG p.R541Afs*51 SpliceDonorInsertion 24/33 - 1
7-73474513-C-CT c.1620_1621insT p.R541Sfs*51 SpliceDonorInsertion 24/33 - 1
7-73474513-C-G c.1620C>G p.L540= Synonymous 24/33 - 1
7-73474513-C-T c.1620C>T p.L540= Synonymous 24/33 - 3
7-73474512-T-TC c.1621dup p.R541Pfs*51 SpliceDonorInsertion - - 1
7-73474514-CCGTGAGTGCCTCGCCCACCTTTCTCTCCTCTCCCCAACGATCTCAGAGCTGGTTAGGGG-C c.1621+1_1621+59del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 24/33 24/32 1
7-73474514-C-T c.1621C>T p.R541* Nonsense 24/33 - 8
7-73474693-C-T c.1622-13C>T - IntronicSNV - 24/32 2
7-73474706-G-A c.1622G>A p.R541Q Missense 25/33 - 2
7-73474706-G-C c.1622G>C p.R541P Missense 25/33 - 4
7-73474708-G-T c.1624G>T p.A542S Missense 25/33 - 2
7-73474713-A-C c.1629A>C p.A543= Synonymous 25/33 - 3
7-73474713-A-G c.1629A>G p.A543= Synonymous 25/33 - 3
7-73474713-A-T c.1629A>T p.A543= Synonymous 25/33 - 3
7-73474714-G-GC c.1631dup p.G545Wfs*47 Frameshift 25/33 - 1
7-73474715-C-A c.1631C>A p.A544D Missense 25/33 - 1
7-73474716-T-C c.1632T>C p.A544= Synonymous 25/33 - 1
7-73474720-C-T c.1636C>T p.L546F Missense 25/33 - 2
7-73474720-GCTTGGTGCTGGCATCCCTGGACTTGGA-G c.1636_1662del p.L546_G554del InFrameDeletion 25/33 - 1
7-73474722-T-A c.1638T>A p.L546= Synonymous 25/33 - 1
7-73474722-T-C c.1638T>C p.L546= Synonymous 25/33 - 1
7-73474722-T-G c.1638T>G p.L546= Synonymous 25/33 - 1
7-73474723-G-A c.1639G>A p.G547S Missense 25/33 - 2
7-73474724-G-A c.1640G>A p.G547D Missense 25/33 - 1
7-73474724-G-C c.1640G>C p.G547A Missense 25/33 - 2
7-73474724-GT-AG c.1640_1641delinsAG p.G547E Missense 25/33 - 1
7-73474725-T-A c.1641T>A p.G547= Synonymous 25/33 - 1
7-73474725-T-C c.1641T>C p.G547= Synonymous 25/33 - 1
7-73474725-T-G c.1641T>G p.G547= Synonymous 25/33 - 1
7-73474726-G-A c.1642G>A p.A548T Missense 25/33 - 2
7-73474728-T-A c.1644T>A p.A548= Synonymous 25/33 - 1
7-73474728-T-C c.1644T>C p.A548= Synonymous 25/33 - 1
7-73474728-T-G c.1644T>G p.A548= Synonymous 25/33 - 1
7-73474728-TGGCATCCCTGGACTTGGAGTTGGTGTC-T c.1648_1674del p.I550_G558del InFrameDeletion 25/33 - 1
7-73474733-T-A c.1649T>A p.I550N Missense 25/33 - 1
7-73474738-G-A c.1654G>A p.G552R Missense 25/33 - 14
7-73474738-G-C c.1654G>C p.G552R Missense 25/33 - 12
7-73474739-G-A c.1655G>A p.G552E Missense 25/33 - 1
7-73474744-G-A c.1660G>A p.G554R Missense 25/33 - 1
7-73474744-GG-AC c.1660_1661delinsAC p.G554T Missense 25/33 - 1
7-73474745-G-A c.1661G>A p.G554E Missense 25/33 - 1
7-73474750-G-A c.1666G>A p.G556S Missense 25/33 - 1
7-73474751-G-A c.1667G>A p.G556D Missense 25/33 - 1
7-73474755-C-T c.1671C>T p.V557= Synonymous 25/33 - 1
7-73474756-G-A c.1672G>A p.G558S Missense 25/33 - 3
7-73474756-G-C c.1672G>C p.G558R Missense 25/33 - 1
7-73474758-C-A c.1674C>A p.G558= Synonymous 25/33 - 2
7-73474758-C-G c.1674C>G p.G558= Synonymous 25/33 - 2
7-73474758-C-T c.1674C>T p.G558= Synonymous 25/33 - 2
7-73474759-G-A c.1675G>A p.V559I Missense 25/33 - 1
7-73474760-T-C c.1676T>C p.V559A Missense 25/33 - 1
7-73474762-C-T c.1678C>T p.P560S Missense 25/33 - 1
7-73474765-G-T c.1681G>T p.G561* Nonsense 25/33 - 1
7-73474766-G-A c.1682G>A p.G561E Missense 25/33 - 3
7-73474768-ACTTGGAGTTGGTGCT-A c.1684_1698del p.L562_A566del InFrameDeletion 25/33 - 1
7-73474771-G-A c.1687G>A p.G563R Missense 25/33 - 2
7-73474771-G-C c.1687G>C p.G563R Missense 25/33 - 2
7-73474772-G-C c.1688G>C p.G563A Missense 25/33 - 1
7-73474774-G-A c.1690G>A p.V564I Missense 25/33 - 1
7-73474777-G-T c.1693G>T p.G565C Missense 25/33 - 2
7-73474783-G-C c.1699G>C p.G567R Missense 25/33 - 12
7-73474784-G-A c.1700G>A p.G567D Missense 25/33 - 1
7-73474784-GT-AG c.1700_1701delinsAG p.G567E Missense 25/33 - 2
7-73474789-C-T c.1705C>T p.P569S Missense 25/33 - 1
7-73474790-C-G c.1706C>G p.P569R Missense 25/33 - 1
7-73474790-C-T c.1706C>T p.P569L Missense 25/33 - 1
7-73474790-CTGGACTTGGAGTTGG-C c.1709_1723del p.G570_G574del InFrameDeletion 25/33 - 1
7-73474793-G-C c.1709G>C p.G570A Missense 25/33 - 3
7-73474761-CCCTGGACTTGGAGTTGGTGCTGGTGTT-C c.1710_1736del p.L571_G579del InFrameDeletion 25/33 - 1
7-73474797-T-A c.1713T>A p.L571= Synonymous 25/33 - 1
7-73474798-G-A c.1714G>A p.G572R Missense 25/33 - 2
7-73474799-G-A c.1715G>A p.G572E Missense 25/33 - 2
7-73474801-G-A c.1717G>A p.V573I Missense 25/33 - 2
7-73474802-T-C c.1718T>C p.V573A Missense 25/33 - 2
7-73474803-T-A c.1719T>A p.V573= Synonymous 25/33 - 1
7-73474803-T-C c.1719T>C p.V573= Synonymous 25/33 - 1
7-73474803-T-G c.1719T>G p.V573= Synonymous 25/33 - 1
7-73474805-G-A c.1721G>A p.G574D Missense 25/33 - 1
7-73474807-G-A c.1723G>A p.A575T Missense 25/33 - 3
7-73474811-G-A c.1727G>A p.G576D Missense 25/33 - 2
7-73474811-GT-AG c.1727_1728delinsAG p.G576E Missense 25/33 - 1
7-73474813-GTT-ATG c.1729_1731delinsATG p.V577M Missense 25/33 - 1
7-73474816-C-T c.1732C>T p.P578S Missense 25/33 - 3
7-73474815-TC-T c.1733del p.P578Lfs*35 Frameshift 25/33 - 1
7-73474819-G-GCCCCGAAGCCAGGAACACCA c.1735_1736insCCCCGAAGCCAGGAACACCA p.G579Afs*41 Frameshift 25/33 - 1
7-73474820-G-C c.1736G>C p.G579A Missense 25/33 - 1
7-73474825-G-A c.1741G>A p.G581R Missense 25/33 - 25
7-73474825-G-C c.1741G>C p.G581R Missense 25/33 - 24
7-73474824-CG-C c.1744del p.A582Qfs*31 Frameshift 25/33 - 1
7-73474828-G-A c.1744G>A p.A582T Missense 25/33 - 1
7-73474829-C-G c.1745C>G p.A582G Missense 25/33 - 1
7-73474852-C-T c.1747+21C>T - IntronicSNV - 25/32 1
7-73474857-C-T c.1747+26C>T - IntronicSNV - 25/32 1
7-73474875-G-A c.1747+44G>A - IntronicSNV - 25/32 1
7-73474880-G-A c.1747+49G>A - IntronicSNV - 25/32 1
7-73474880-G-C c.1747+49G>C - IntronicSNV - 25/32 2
7-73474885-C-T c.1747+54C>T - IntronicSNV - 25/32 1
7-73474894-T-C c.1747+63T>C - IntronicSNV - 25/32 1
7-73474895-C-T c.1747+64C>T - IntronicSNV - 25/32 1
7-73474900-C-T c.1747+69C>T - IntronicSNV - 25/32 1
7-73474911-C-A c.1747+80C>A - IntronicSNV - 25/32 1
7-73474911-C-T c.1747+80C>T - IntronicSNV - 25/32 1
7-73474912-A-G c.1747+81A>G - IntronicSNV - 25/32 1
7-73474913-C-A c.1747+82C>A - IntronicSNV - 25/32 2
7-73474914-C-T c.1747+83C>T - IntronicSNV - 25/32 1
7-73474916-C-T c.1747+85C>T - IntronicSNV - 25/32 1
7-73474923-A-C c.1747+92A>C - IntronicSNV - 25/32 1
7-73474975-T-C c.1747+144T>C - IntronicSNV - 25/32 1
7-73474985-C-T c.1747+154C>T - IntronicSNV - 25/32 1
7-73475369-G-A c.1748-62G>A - IntronicSNV - 25/32 1
7-73475431-T-G c.1748T>G p.V583G Missense 26/33 - 1
7-73475432-A-C c.1749A>C p.V583= Synonymous 26/33 - 1
7-73475432-A-G c.1749A>G p.V583= Synonymous 26/33 - 1
7-73475432-A-T c.1749A>T p.V583= Synonymous 26/33 - 1
7-73475433-C-T c.1750C>T p.P584S Missense 26/33 - 1
7-73475436-G-A c.1753G>A p.G585R Missense 26/33 - 1
7-73475437-G-A c.1754G>A p.G585E Missense 26/33 - 1
7-73475439-G-A c.1756G>A p.A586T Missense 26/33 - 2
7-73475439-G-T c.1756G>T p.A586S Missense 26/33 - 2
7-73475448-G-A c.1765G>A p.A589T Missense 26/33 - 1
7-73475449-C-T c.1766C>T p.A589V Missense 26/33 - 1
7-73475448-GCCGCTAAAGCAGCCAAATATGGTGAGTGCACCCCACAACCACTTGTGGCTCCCTTGCCA-G c.1768_1786+40del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 26/33 26/32 1
7-73475450-C-A c.1767C>A p.A589= Synonymous 26/33 - 2
7-73475450-C-G c.1767C>G p.A589= Synonymous 26/33 - 1
7-73475450-C-T c.1767C>T p.A589= Synonymous 26/33 - 1
7-73475451-G-A c.1768G>A p.A590T Missense 26/33 - 3
7-73475453-T-A c.1770T>A p.A590= Synonymous 26/33 - 1
7-73475453-T-C c.1770T>C p.A590= Synonymous 26/33 - 1
7-73475453-T-G c.1770T>G p.A590= Synonymous 26/33 - 1
7-73475457-G-A c.1774G>A p.A592T Missense 26/33 - 1
7-73475458-C-G c.1775C>G p.A592G Missense 26/33 - 1
7-73475460-G-A c.1777G>A p.A593T Missense 26/33 - 1
7-73475461-C-T c.1778C>T p.A593V Missense 26/33 - 1
7-73475464-A-C c.1781A>C p.K594T Missense 26/33 - 2
7-73475464-A-G c.1781A>G p.K594R Missense 26/33 - 1
7-73475464-A-T c.1781A>T p.K594I Missense 26/33 - 1
7-73475466-T-C c.1783T>C p.Y595H Missense 26/33 - 1
7-73475468-T-A c.1785T>A p.Y595* Nonsense 26/33 - 3
7-73475468-T-G c.1785T>G p.Y595* Nonsense 26/33 - 1
7-73475469-G-A c.1786G>A p.G596R Missense 26/33 - 1
7-73475470-G-A c.1786+1G>A - IntronicSNV - 26/32 1
7-73475775-G-A c.1786+306G>A - IntronicSNV - 26/32 1
7-73476236-T-C c.1786+767T>C - IntronicSNV - 26/32 1
7-73476249-C-T c.1786+780C>T - IntronicSNV - 26/32 1
7-73477483-G-A c.1787G>A p.G596E Missense 27/33 - 1
7-73477485-G-A c.1789G>A p.A597T Missense 27/33 - 3
7-73477487-A-C c.1791A>C p.A597= Synonymous 27/33 - 1
7-73477487-A-G c.1791A>G p.A597= Synonymous 27/33 - 2
7-73477487-A-T c.1791A>T p.A597= Synonymous 27/33 - 1
7-73477492-T-A c.1796T>A p.V599E Missense 27/33 - 1
7-73477493-G-A c.1797G>A p.V599= Synonymous 27/33 - 1
7-73477493-G-C c.1797G>C p.V599= Synonymous 27/33 - 1
7-73477493-G-T c.1797G>T p.V599= Synonymous 27/33 - 1
7-73477494-C-G c.1798C>G p.P600A Missense 27/33 - 1
7-73477495-C-T c.1799C>T p.P600L Missense 27/33 - 1
7-73477497-G-A c.1801G>A p.G601R Missense 27/33 - 2
7-73477497-G-C c.1801G>C p.G601R Missense 27/33 - 1
7-73477498-G-C c.1802G>C p.G601A Missense 27/33 - 1
7-73477499-G-A c.1803G>A p.G601= Synonymous 27/33 - 1
7-73477499-G-C c.1803G>C p.G601= Synonymous 27/33 - 1
7-73477499-G-T c.1803G>T p.G601= Synonymous 27/33 - 1
7-73477500-G-A c.1804G>A p.V602I Missense 27/33 - 1
7-73477501-T-C c.1805T>C p.V602A Missense 27/33 - 1
7-73477502-C-T c.1806C>T p.V602= Synonymous 27/33 - 3
7-73477503-C-A c.1807C>A p.L603I Missense 27/33 - 1
7-73477503-CCTTGGAGGGCTCGGG-C c.1807_1821del p.L603_G607del InFrameDeletion 27/33 - 1
7-73477503-C-T c.1807C>T p.L603F Missense 27/33 - 2
7-73477504-T-C c.1808T>C p.L603P Missense 27/33 - 1
7-73477505-T-A c.1809T>A p.L603= Synonymous 27/33 - 1
7-73477505-T-C c.1809T>C p.L603= Synonymous 27/33 - 1
7-73477505-T-G c.1809T>G p.L603= Synonymous 27/33 - 1
7-73477506-G-A c.1810G>A p.G604R Missense 27/33 - 1
7-73477507-GA-AC c.1811_1812delinsAC p.G604D Missense 27/33 - 4
7-73477510-G-A c.1814G>A p.G605E Missense 27/33 - 1
7-73477510-G-C c.1814G>C p.G605A Missense 27/33 - 1
7-73477510-GG-AC c.1814_1815delinsAC p.G605D Missense 27/33 - 1
7-73477508-AG-A c.1815del p.L606Sfs*7 Frameshift 27/33 - 1
7-73477511-G-A c.1815G>A p.G605= Synonymous 27/33 - 2
7-73477511-G-C c.1815G>C p.G605= Synonymous 27/33 - 2
7-73477511-G-T c.1815G>T p.G605= Synonymous 27/33 - 2
7-73477515-G-A c.1819G>A p.G607R Missense 27/33 - 2
7-73477515-G-C c.1819G>C p.G607R Missense 27/33 - 2
7-73477516-G-A c.1820G>A p.G607E Missense 27/33 - 1
7-73477517-G-C c.1821G>C p.G607= Synonymous 27/33 - 1
7-73477518-G-A c.1822G>A p.A608T Missense 27/33 - 2
7-73477519-C-T c.1823C>T p.A608V Missense 27/33 - 1
7-73477521-C-T c.1825C>T p.L609F Missense 27/33 - 1
7-73477524-G-A c.1828G>A p.G610S Missense 27/33 - 2
7-73477524-G-C c.1828G>C p.G610R Missense 27/33 - 9
7-73477524-GGT-CAA c.1828_1830delinsCAA p.G610Q Missense 27/33 - 1
7-73477525-G-C c.1829G>C p.G610A Missense 27/33 - 1
7-73477527-G-A c.1831G>A p.G611R Missense 27/33 - 2
7-73477527-G-T c.1831G>T p.G611* Nonsense 27/33 - 1
7-73477526-TGGA-T c.1832_1834del p.G611del InFrameDeletion 27/33 - 1
7-73477526-TG-T c.1832del p.G611Efs*2 Frameshift 27/33 - 1
7-73477530-G-C c.1834G>C p.V612L Missense 27/33 - 1
7-73477532-A-T c.1836A>T p.V612= Synonymous 27/33 - 1
7-73477533-G-A c.1837G>A p.G613S Missense 27/33 - 1
7-73477533-G-C c.1837G>C p.G613R Missense 27/33 - 1
7-73477534-GC-AG c.1838_1839delinsAG p.G613E Missense 27/33 - 1
7-73477534-G-T c.1838G>T p.G613V Missense 27/33 - 1
7-73477535-C-A c.1839C>A p.G613= Synonymous 27/33 - 1
7-73477535-C-G c.1839C>G p.G613= Synonymous 27/33 - 1
7-73477535-C-T c.1839C>T p.G613= Synonymous 27/33 - 1
7-73477538-C-A c.1842C>A p.I614= Synonymous 27/33 - 2
7-73477538-C-T c.1842C>T p.I614= Synonymous 27/33 - 3
7-73477542-G-A c.1846G>A p.G616S Missense 27/33 - 1
7-73477543-G-T c.1847G>T p.G616V Missense 27/33 - 1
7-73477545-G-A c.1849G>A p.G617S Missense 27/33 - 2
7-73477548-G-A c.1852G>A p.V618M Missense 27/33 - 2
7-73477550-G-T c.1854G>T p.V618= Synonymous 27/33 - 1
7-73477551-G-A c.1855G>A p.V619M Missense 27/33 - 1
7-73477552-T-G c.1856T>G p.V619G Missense 27/33 - 1
7-73477554-G-A c.1858G>A p.G620R Missense 27/33 - 1
7-73477554-G-C c.1858G>C p.G620R Missense 27/33 - 1
7-73477554-G-T c.1858G>T p.G620* Nonsense 27/33 - 1
7-73477559-G-C c.1858+5G>C - IntronicSNV - 27/32 1
7-73477640-G-C c.1859G>C p.G620A Missense 28/33 - 1
7-73477641-A-T c.1860A>T p.G620= Synonymous 28/33 - 1
7-73477642-G-A c.1861G>A p.A621T Missense 28/33 - 2
7-73477645-G-T c.1864G>T p.G622* Nonsense 28/33 - 2
7-73477641-AGCCGGACCCGCCGCC-A c.1865_1879del p.G622_A626del InFrameDeletion 28/33 - 1
7-73477646-G-C c.1865G>C p.G622A Missense 28/33 - 1
7-73477647-A-C c.1866A>C p.G622= Synonymous 28/33 - 1
7-73477647-A-G c.1866A>G p.G622= Synonymous 28/33 - 1
7-73477647-A-T c.1866A>T p.G622= Synonymous 28/33 - 1
7-73477651-G-A c.1870G>A p.A624T Missense 28/33 - 1
7-73477651-G-T c.1870G>T p.A624S Missense 28/33 - 1
7-73477653-C-T c.1872C>T p.A624= Synonymous 28/33 - 2
7-73477655-C-T c.1874C>T p.A625V Missense 28/33 - 1
7-73477656-C-T c.1875C>T p.A625= Synonymous 28/33 - 1
7-73477657-G-A c.1876G>A p.A626T Missense 28/33 - 3
7-73477658-C-T c.1877C>T p.A626V Missense 28/33 - 1
7-73477648-CCCG-C c.1878_1880del p.A630del InFrameDeletion 28/33 - 1
7-73477659-C-T c.1878C>T p.A626= Synonymous 28/33 - 1
7-73477660-G-A c.1879G>A p.A627T Missense 28/33 - 2
7-73477659-CGCTGCCGCAGCCAAA-C c.1884_1898del p.A630_A634del InFrameDeletion 28/33 - 1
7-73477665-C-A c.1884C>A p.A628= Synonymous 28/33 - 1
7-73477665-C-G c.1884C>G p.A628= Synonymous 28/33 - 1
7-73477665-C-T c.1884C>T p.A628= Synonymous 28/33 - 1
7-73477666-G-A c.1885G>A p.A629T Missense 28/33 - 2
7-73477669-G-A c.1888G>A p.A630T Missense 28/33 - 1
7-73477675-G-A c.1894G>A p.A632T Missense 28/33 - 1
7-73477675-G-T c.1894G>T p.A632S Missense 28/33 - 1
7-73477674-AGCTGCTGCCAAAGCC-A c.1896_1910del p.A633_A637del InFrameDeletion 28/33 - 1
7-73477678-G-A c.1897G>A p.A633T Missense 28/33 - 1
7-73477679-C-T c.1898C>T p.A633V Missense 28/33 - 1
7-73477681-G-A c.1900G>A p.A634T Missense 28/33 - 1
7-73477682-C-T c.1901C>T p.A634V Missense 28/33 - 1
7-73477686-A-G c.1905A>G p.K635= Synonymous 28/33 - 1
7-73477686-A-T c.1905A>T p.K635N Missense 28/33 - 1
7-73477687-G-A c.1906G>A p.A636T Missense 28/33 - 1
7-73477688-CC-AG c.1907_1908delinsAG p.A636E Missense 28/33 - 1
7-73477688-C-T c.1907C>T p.A636V Missense 28/33 - 2
7-73477690-CG-C c.1909del p.A637Pfs*5 Frameshift 28/33 - 1
7-73477690-G-A c.1909G>A p.A637T Missense 28/33 - 2
7-73477689-CGCCCAGTTTGGTGAGCACTGGGTGGAGGTGGGAGCTGCCGCCAGGCCCCCAGGCCCCCA-C c.1910_1918+50del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 28/33 28/32 1
7-73477693-C-T c.1912C>T p.Q638* Nonsense 28/33 - 1
7-73477700-G-A c.1918+1G>A - IntronicSNV - 28/32 2
7-73477922-C-T c.1919-29C>T - IntronicSNV - 28/32 1
7-73477951-GC-AG c.1919_1920delinsAG p.G640E Missense 29/33 - 1
7-73477953-CCTAGTGGGAGCCGCT-C c.1921_1935del p.L641_A645del InFrameDeletion 29/33 - 1
7-73477956-G-A c.1924G>A p.V642M Missense 29/33 - 1
7-73477956-G-T c.1924G>T p.V642L Missense 29/33 - 1
7-73477956-GTG-ATC c.1924_1926delinsATC p.V642I Missense 29/33 - 1
7-73477958-G-T c.1926G>T p.V642= Synonymous 29/33 - 1
7-73477959-G-A c.1927G>A p.G643R Missense 29/33 - 3
7-73477957-TGGGAGCCGCTGGGCTCGGAGGACTC-T c.1928_1952del p.G643Efs*36 Frameshift 29/33 - 1
7-73477960-G-A c.1928G>A p.G643E Missense 29/33 - 1
7-73477960-G-C c.1928G>C p.G643A Missense 29/33 - 1
7-73477962-G-A c.1930G>A p.A644T Missense 29/33 - 1
7-73477963-C-T c.1931C>T p.A644V Missense 29/33 - 1
7-73477962-GC-G c.1932del p.A645Lfs*42 Frameshift 29/33 - 1
7-73477965-G-A c.1933G>A p.A645T Missense 29/33 - 3
7-73477965-G-T c.1933G>T p.A645S Missense 29/33 - 1
7-73477966-C-T c.1934C>T p.A645V Missense 29/33 - 1
7-73477968-GGG-TGT c.1936_1938delinsTGT p.G646C Missense 29/33 - 1
7-73477969-G-A c.1937G>A p.G646E Missense 29/33 - 1
7-73477969-G-C c.1937G>C p.G646A Missense 29/33 - 1
7-73477970-G-A c.1938G>A p.G646= Synonymous 29/33 - 2
7-73477970-G-C c.1938G>C p.G646= Synonymous 29/33 - 2
7-73477970-G-T c.1938G>T p.G646= Synonymous 29/33 - 2
7-73477971-C-A c.1939C>A p.L647I Missense 29/33 - 1
7-73477971-C-G c.1939C>G p.L647V Missense 29/33 - 1
7-73477971-C-CTG c.1940_1941insGT p.G648Sfs*40 Frameshift 29/33 - 1
7-73477973-C-T c.1941C>T p.L647= Synonymous 29/33 - 1
7-73477974-G-A c.1942G>A p.G648R Missense 29/33 - 5
7-73477974-G-C c.1942G>C p.G648R Missense 29/33 - 2
7-73477974-G-T c.1942G>T p.G648* Nonsense 29/33 - 1
7-73477975-G-A c.1943G>A p.G648E Missense 29/33 - 4
7-73477977-G-A c.1945G>A p.G649R Missense 29/33 - 6
7-73477977-G-C c.1945G>C p.G649R Missense 29/33 - 2
7-73477978-G-A c.1946G>A p.G649E Missense 29/33 - 3
7-73477978-G-C c.1946G>C p.G649A Missense 29/33 - 2
7-73477979-A-T c.1947A>T p.G649= Synonymous 29/33 - 1
7-73477980-CT-AG c.1948_1949inv p.L650S Missense 29/33 - 1
7-73477982-C-A c.1950C>A p.L650= Synonymous 29/33 - 4
7-73477982-C-G c.1950C>G p.L650= Synonymous 29/33 - 1
7-73477982-C-T c.1950C>T p.L650= Synonymous 29/33 - 3
7-73477983-G-A c.1951G>A p.G651R Missense 29/33 - 5
7-73477984-G-C c.1952G>C p.G651A Missense 29/33 - 4
7-73477987-T-G c.1955T>G p.V652G Missense 29/33 - 2
7-73477982-CGGAGTCGGAGGGCTT-C c.1956_1970del p.G653_V657del InFrameDeletion 29/33 - 1
7-73477988-C-A c.1956C>A p.V652= Synonymous 29/33 - 2
7-73477988-C-G c.1956C>G p.V652= Synonymous 29/33 - 2
7-73477988-C-T c.1956C>T p.V652= Synonymous 29/33 - 4
7-73477989-G-A c.1957G>A p.G653R Missense 29/33 - 5
7-73477989-G-C c.1957G>C p.G653R Missense 29/33 - 3
7-73477989-G-T c.1957G>T p.G653* Nonsense 29/33 - 1
7-73477990-G-A c.1958G>A p.G653E Missense 29/33 - 2
7-73477992-G-A c.1960G>A p.G654R Missense 29/33 - 3
7-73477992-G-C c.1960G>C p.G654R Missense 29/33 - 2
7-73477992-GGG-AGC c.1960_1962delinsAGC p.G654S Missense 29/33 - 1
7-73477993-G-A c.1961G>A p.G654E Missense 29/33 - 2
7-73477993-G-C c.1961G>C p.G654A Missense 29/33 - 1
7-73477994-G-A c.1962G>A p.G654= Synonymous 29/33 - 1
7-73477994-G-C c.1962G>C p.G654= Synonymous 29/33 - 1
7-73477994-G-T c.1962G>T p.G654= Synonymous 29/33 - 1
7-73477998-G-A c.1966G>A p.G656R Missense 29/33 - 1
7-73477999-G-C c.1967G>C p.G656A Missense 29/33 - 1
7-73477995-CTTGGAGTTCCAGGTG-C c.1968_1982del p.V657_G661del InFrameDeletion 29/33 - 1
7-73478000-AGTTCCAGGTGTTGGG-A c.1970_1984del p.V657_G661del InFrameDeletion 29/33 - 1
7-73478003-T-A c.1971T>A p.V657= Synonymous 29/33 - 1
7-73478003-T-C c.1971T>C p.V657= Synonymous 29/33 - 1
7-73478003-T-G c.1971T>G p.V657= Synonymous 29/33 - 1
7-73478004-C-A c.1972C>A p.P658T Missense 29/33 - 2
7-73478005-C-T c.1973C>T p.P658L Missense 29/33 - 3
7-73478007-G-A c.1975G>A p.G659S Missense 29/33 - 1
7-73478007-G-T c.1975G>T p.G659C Missense 29/33 - 1
7-73478010-G-A c.1978G>A p.V660I Missense 29/33 - 1
7-73478010-G-T c.1978G>T p.V660F Missense 29/33 - 1
7-73478013-G-A c.1981G>A p.G661R Missense 29/33 - 1
7-73478014-G-C c.1982G>C p.G661A Missense 29/33 - 1
7-73478012-TG-T c.1985del p.G662Afs*25 Frameshift 29/33 - 2
7-73478017-G-A c.1985G>A p.G662D Missense 29/33 - 1
7-73478017-G-C c.1985G>C p.G662A Missense 29/33 - 1
7-73478017-G-T c.1985G>T p.G662V Missense 29/33 - 1
7-73478018-C-T c.1986C>T p.G662= Synonymous 29/33 - 1
7-73478019-C-A c.1987C>A p.L663I Missense 29/33 - 1
7-73478019-C-T c.1987C>T p.L663F Missense 29/33 - 1
7-73478022-G-A c.1990G>A p.G664R Missense 29/33 - 3
7-73478022-G-C c.1990G>C p.G664R Missense 29/33 - 2
7-73478023-G-A c.1991G>A p.G664E Missense 29/33 - 2
7-73478023-GA-AC c.1991_1992delinsAC p.G664D Missense 29/33 - 4
7-73478023-G-C c.1991G>C p.G664A Missense 29/33 - 1
7-73478025-G-T c.1993G>T p.G665C Missense 29/33 - 1
7-73480024-GT-AG c.1994_1995delinsAG p.G665E Missense 30/33 - 1
7-73480025-T-A c.1995T>A p.G665= Synonymous 30/33 - 2
7-73480025-T-C c.1995T>C p.G665= Synonymous 30/33 - 2
7-73480025-T-G c.1995T>G p.G665= Synonymous 30/33 - 2
7-73480027-T-TTACC c.1997_1998insTACC p.P667Tfs*8 Frameshift 30/33 - 1
7-73480029-C-T c.1999C>T p.P667S Missense 30/33 - 4
7-73480030-C-T c.2000C>T p.P667L Missense 30/33 - 1
7-73480032-C-A c.2002C>A p.P668T Missense 30/33 - 1
7-73480033-C-A c.2003C>A p.P668Q Missense 30/33 - 2
7-73480033-C-T c.2003C>T p.P668L Missense 30/33 - 1
7-73480035-AGCTGCAG-A c.2005_2011del p.A669Pfs*16 Frameshift 30/33 - 1
7-73480035-G-A c.2005G>A p.A669T Missense 30/33 - 1
7-73480043-C-T c.2013C>T p.A671= Synonymous 30/33 - 1
7-73480044-G-A c.2014G>A p.A672T Missense 30/33 - 3
7-73480050-G-A c.2020G>A p.A674T Missense 30/33 - 1
7-73480051-C-A c.2021C>A p.A674E Missense 30/33 - 1
7-73480051-C-T c.2021C>T p.A674V Missense 30/33 - 3
7-73480053-G-T c.2023G>T p.A675S Missense 30/33 - 1
7-73480061-C-A c.2031C>A p.Y677* Nonsense 30/33 - 2
7-73480061-C-T c.2031C>T p.Y677= Synonymous 30/33 - 1
7-73480062-G-A c.2032G>A p.G678S Missense 30/33 - 3
7-73480062-G-C c.2032G>C p.G678R Missense 30/33 - 1
7-73480063-G-A c.2032+1G>A - IntronicSNV - 30/32 1
7-73480161-C-G c.2032+99C>G - IntronicSNV - 30/32 1
7-73480161-C-T c.2032+99C>T - IntronicSNV - 30/32 1
7-73480258-A-C c.2033-16A>C - IntronicSNV - 30/32 3
7-73480258-A-G c.2033-16A>G - IntronicSNV - 30/32 3
7-73480276-G-A c.2035G>A p.A679T Missense 31/33 - 1
7-73480277-C-T c.2036C>T p.A679V Missense 31/33 - 2
7-73480279-G-A c.2038G>A p.A680T Missense 31/33 - 1
7-73480279-G-T c.2038G>T p.A680S Missense 31/33 - 1
7-73480280-C-T c.2039C>T p.A680V Missense 31/33 - 3
7-73480283-G-C c.2042G>C p.G681A Missense 31/33 - 1
7-73480283-G-T c.2042G>T p.G681V Missense 31/33 - 1
7-73480288-G-A c.2047G>A p.G683R Missense 31/33 - 3
7-73480288-G-C c.2047G>C p.G683R Missense 31/33 - 2
7-73480289-G-C c.2048G>C p.G683A Missense 31/33 - 1
7-73480291-G-A c.2050G>A p.G684S Missense 31/33 - 2
7-73480291-GGT-TGG c.2050_2052delinsTGG p.G684W Missense 31/33 - 1
7-73480291-G-T c.2050G>T p.G684C Missense 31/33 - 2
7-73480293-T-A c.2052T>A p.G684= Synonymous 31/33 - 2
7-73480293-T-C c.2052T>C p.G684= Synonymous 31/33 - 2
7-73480293-T-G c.2052T>G p.G684= Synonymous 31/33 - 2
7-73480296-C-T c.2055C>T p.V685= Synonymous 31/33 - 2
7-73480297-C-T c.2056C>T p.L686= Synonymous 31/33 - 1
7-73480298-T-C c.2057T>C p.L686P Missense 31/33 - 1
7-73480299-TA-T c.2058del p.G688Vfs*63 Frameshift 31/33 - 1
7-73480301-G-A c.2060G>A p.G687E Missense 31/33 - 6
7-73480301-G-C c.2060G>C p.G687A Missense 31/33 - 1
7-73480301-GG-AC c.2060_2061delinsAC p.G687D Missense 31/33 - 4
7-73480301-G-T c.2060G>T p.G687V Missense 31/33 - 1
7-73480302-G-A c.2061G>A p.G687= Synonymous 31/33 - 2
7-73480303-G-C c.2062G>C p.G688R Missense 31/33 - 1
7-73480304-G-A c.2063G>A p.G688D Missense 31/33 - 1
7-73480304-GT-AG c.2063_2064delinsAG p.G688E Missense 31/33 - 1
7-73480305-T-A c.2064T>A p.G688= Synonymous 31/33 - 2
7-73480305-T-C c.2064T>C p.G688= Synonymous 31/33 - 2
7-73480305-T-G c.2064T>G p.G688= Synonymous 31/33 - 2
7-73480308-C-T c.2067C>T p.A689= Synonymous 31/33 - 2
7-73480309-G-A c.2068G>A p.G690R Missense 31/33 - 1
7-73480310-G-A c.2069G>A p.G690E Missense 31/33 - 1
7-73480312-C-A c.2071C>A p.Q691K Missense 31/33 - 1
7-73480312-C-T c.2071C>T p.Q691* Nonsense 31/33 - 1
7-73480314-G-A c.2073G>A p.Q691= Synonymous 31/33 - 1
7-73480317-C-T c.2076C>T p.F692= Synonymous 31/33 - 3
7-73480319-C-A c.2078C>A p.P693Q Missense 31/33 - 1
7-73480324-G-A c.2083G>A p.G695R Missense 31/33 - 1
7-73480325-G-A c.2084G>A p.G695E Missense 31/33 - 1
7-73480332-G-C c.2086+5G>C - IntronicSNV - 31/32 2
7-73480332-G-T c.2086+5G>T - IntronicSNV - 31/32 1
7-73480569-G-A c.2086+242G>A - IntronicSNV - 31/32 1
7-73481028-C-T c.2087-34C>T - IntronicSNV - 31/32 5
7-73481062-G-A c.2087G>A p.G696E Missense 32/33 - 1
7-73481062-G-C c.2087G>C p.G696A Missense 32/33 - 2
7-73481066-G-C c.2091G>C p.V697= Synonymous 32/33 - 1
7-73481068-C-G c.2093C>G p.A698G Missense 32/33 - 1
7-73481070-G-A c.2095G>A p.A699T Missense 32/33 - 2
7-73481070-G-T c.2095G>T p.A699S Missense 32/33 - 1
7-73481074-G-C c.2099G>C p.R700T Missense 32/33 - 1
7-73481079-G-A c.2104G>A p.G702S Missense 32/33 - 1
7-73481079-G-C c.2104G>C p.G702R Missense 32/33 - 1
7-73481080-GC-AG c.2105_2106delinsAG p.G702E Missense 32/33 - 1
7-73481081-C-A c.2106C>A p.G702= Synonymous 32/33 - 2
7-73481081-C-G c.2106C>G p.G702= Synonymous 32/33 - 2
7-73481081-C-T c.2106C>T p.G702= Synonymous 32/33 - 2
7-73481082-T-G c.2107T>G p.F703V Missense 32/33 - 1
7-73481084-C-T c.2109C>T p.F703= Synonymous 32/33 - 3
7-73481085-G-A c.2110G>A p.G704R Missense 32/33 - 1
7-73481086-G-A c.2111G>A p.G704E Missense 32/33 - 1
7-73481088-T-C c.2113T>C p.L705= Synonymous 32/33 - 2
7-73481089-TTGTCTCCCATTTTCCCAGGTATGCCAGGCTCCCTGCCCCTGGGCCCTGCCCTGGAGCTG-T c.2114_2131+41del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 32/33 32/32 2
7-73481091-GTCT-G c.2116_2118del p.S706del InFrameDeletion 32/33 - 1
7-73481092-C-T c.2117C>T p.S706F Missense 32/33 - 1
7-73481094-C-T c.2119C>T p.P707S Missense 32/33 - 1
7-73481095-C-T c.2120C>T p.P707L Missense 32/33 - 1
7-73481098-T-G c.2123T>G p.I708S Missense 32/33 - 1
7-73481097-AT-A c.2126del p.F709Sfs*42 Frameshift 32/33 - 1
7-73481102-C-T c.2127C>T p.F709= Synonymous 32/33 - 4
7-73481103-C-A c.2128C>A p.P710T Missense 32/33 - 1
7-73481103-C-G c.2128C>G p.P710A Missense 32/33 - 1
7-73481103-C-T c.2128C>T p.P710S Missense 32/33 - 1
7-73481106-G-A c.2131G>A p.G711S Missense 32/33 - 2
7-73482621-G-A c.2132-366G>A - IntronicSNV - 32/32 1
7-73482941-C-A c.2132-46C>A - IntronicSNV - 32/32 1
7-73482941-C-G c.2132-46C>G - IntronicSNV - 32/32 1
7-73482987-G-A c.2132G>A p.G711D Missense 33/33 - 15
7-73482987-G-C c.2132G>C p.G711A Missense 33/33 - 1
7-73482987-GT-AG c.2132_2133delinsAG p.G711E Missense 33/33 - 1
7-73482990-G-A c.2135G>A p.G712E Missense 33/33 - 1
7-73482991-G-A c.2136G>A p.G712= Synonymous 33/33 - 3
7-73482991-G-C c.2136G>C p.G712= Synonymous 33/33 - 2
7-73482991-G-T c.2136G>T p.G712= Synonymous 33/33 - 2
7-73482988-TG-T c.2137del p.A713Pfs*38 Frameshift 33/33 - 1
7-73482992-G-A c.2137G>A p.A713T Missense 33/33 - 1
7-73482991-GGCCTGCCTGGGGAAA-G c.2139_2153del p.L715_C719del InFrameDeletion 33/33 - 1
7-73482995-T-A c.2140T>A p.C714S Missense 33/33 - 1
7-73482996-G-C c.2141G>C p.C714S Missense 33/33 - 1
7-73483000-G-T c.2145G>T p.L715= Synonymous 33/33 - 3
7-73483001-G-A c.2146G>A p.G716R Missense 33/33 - 2
7-73483001-G-C c.2146G>C p.G716R Missense 33/33 - 1
7-73483001-G-T c.2146G>T p.G716W Missense 33/33 - 1
7-73483002-G-A c.2147G>A p.G716E Missense 33/33 - 1
7-73483003-G-A c.2148G>A p.G716= Synonymous 33/33 - 7
7-73483003-G-C c.2148G>C p.G716= Synonymous 33/33 - 2
7-73483003-G-T c.2148G>T p.G716= Synonymous 33/33 - 2
7-73483006-A-T c.2151A>T p.K717N Missense 33/33 - 1
7-73483011-TG-T c.2156del p.C719Lfs*32 Frameshift 33/33 - 1
7-73483014-G-A c.2159G>A p.G720D Missense 33/33 - 1
7-73483014-GC-G c.2161del p.R721Gfs*30 Frameshift 33/33 - 1
7-73483016-C-A c.2161C>A p.R721= Synonymous 33/33 - 1
7-73483016-C-G c.2161C>G p.R721G Missense 33/33 - 1
7-73483016-C-T c.2161C>T p.R721W Missense 33/33 - 1
7-73483017-G-A c.2162G>A p.R721Q Missense 33/33 - 3
7-73483017-G-C c.2162G>C p.R721P Missense 33/33 - 2
7-73483018-G-A c.2163G>A p.R721= Synonymous 33/33 - 2
7-73483021-G-A c.2166G>A p.K722= Synonymous 33/33 - 2
7-73483023-G-A c.2168G>A p.R723K Missense 33/33 - 2
7-73483023-G-T c.2168G>T p.R723I Missense 33/33 - 1
7-73483413-T-G c.*383T>G - 3-UTRSNV 33/33 - 1
7-73483531-C-CA c.*501_*502insA - 3-UTRInsertion 33/33 - 4
7-73483689-G-A c.*659G>A - 3-UTRSNV 33/33 - 6
7-73483689-G-C c.*659G>C - 3-UTRSNV 33/33 - 6
7-73483689-G-T c.*659G>T - 3-UTRSNV 33/33 - 6
7-73484224-A-G c.*1194A>G - 3-UTRSNV 33/33 - 1