AQP2

AQP2 aquaporin 2

Annotation transcript: NM_000486.6

518 unique variant annotations were identified in 523 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
12-50344554-C-T c.-60C>T - 5-UTRSNV 1/4 - 1
12-50344555-G-A c.-59G>A - 5-UTRSNV 1/4 - 1
12-50344616-G-A c.3G>A p.M1? Missense 1/4 - 1
12-50344616-G-C c.3G>C p.M1? Missense 1/4 - 1
12-50344616-G-T c.3G>T p.M1? Missense 1/4 - 2
12-50344617-T-A c.4T>A p.W2R Missense 1/4 - 1
12-50344617-T-C c.4T>C p.W2R Missense 1/4 - 1
12-50344618-G-A c.5G>A p.W2* Nonsense 1/4 - 2
12-50344620-G-T c.7G>T p.E3* Nonsense 1/4 - 3
12-50344623-C-G c.10C>G p.L4V Missense 1/4 - 1
12-50344626-C-T c.13C>T p.R5C Missense 1/4 - 7
12-50344627-G-A c.14G>A p.R5H Missense 1/4 - 1
12-50344628-C-A c.15C>A p.R5= Synonymous 1/4 - 1
12-50344628-C-T c.15C>T p.R5= Synonymous 1/4 - 4
12-50344630-C-T c.17C>T p.S6F Missense 1/4 - 1
12-50344635-G-A c.22G>A p.A8T Missense 1/4 - 2
12-50344636-C-A c.23C>A p.A8D Missense 1/4 - 1
12-50344641-TC-CA c.28_29delinsCA p.S10H Missense 1/4 - 1
12-50344641-TCC-GAG c.28_30delinsGAG p.S10E Missense 1/4 - 1
12-50344641-TC-GA c.28_29inv p.S10D Missense 1/4 - 1
12-50344641-T-G c.28T>G p.S10A Missense 1/4 - 6
12-50344642-C-G c.29C>G p.S10C Missense 1/4 - 3
12-50344645-G-A c.32G>A p.R11K Missense 1/4 - 2
12-50344647-G-A c.34G>A p.A12T Missense 1/4 - 1
12-50344647-GCT-CAA c.34_36delinsCAA p.A12Q Missense 1/4 - 1
12-50344652-G-A c.39G>A p.V13= Synonymous 1/4 - 3
12-50344652-G-C c.39G>C p.V13= Synonymous 1/4 - 1
12-50344652-G-T c.39G>T p.V13= Synonymous 1/4 - 1
12-50344653-TT-CG c.40_41delinsCG p.F14R Missense 1/4 - 1
12-50344655-C-T c.42C>T p.F14= Synonymous 1/4 - 3
12-50344656-G-A c.43G>A p.A15T Missense 1/4 - 1
12-50344656-GCA-TTT c.43_45delinsTTT p.A15F Missense 1/4 - 1
12-50344662-T-C c.49T>C p.F17L Missense 1/4 - 1
12-50344664-C-A c.51C>A p.F17L Missense 1/4 - 1
12-50344664-C-G c.51C>G p.F17L Missense 1/4 - 1
12-50344664-C-T c.51C>T p.F17= Synonymous 1/4 - 2
12-50344668-G-C c.55G>C p.A19P Missense 1/4 - 1
12-50344668-GC-TT c.55_56delinsTT p.A19F Missense 1/4 - 1
12-50344669-C-A c.56C>A p.A19D Missense 1/4 - 1
12-50344669-C-T c.56C>T p.A19V Missense 1/4 - 3
12-50344670-C-A c.57C>A p.A19= Synonymous 1/4 - 1
12-50344670-C-G c.57C>G p.A19= Synonymous 1/4 - 1
12-50344670-C-T c.57C>T p.A19= Synonymous 1/4 - 1
12-50344675-T-C c.62T>C p.L21P Missense 1/4 - 1
12-50344677-C-G c.64C>G p.L22V Missense 1/4 - 13
12-50344680-T-C c.67T>C p.F23L Missense 1/4 - 1
12-50344682-C-A c.69C>A p.F23L Missense 1/4 - 1
12-50344682-C-G c.69C>G p.F23L Missense 1/4 - 1
12-50344682-C-T c.69C>T p.F23= Synonymous 1/4 - 1
12-50344683-G-A c.70G>A p.V24I Missense 1/4 - 3
12-50344684-T-C c.71T>C p.V24A Missense 1/4 - 8
12-50344686-T-C c.73T>C p.F25L Missense 1/4 - 1
12-50344686-T-G c.73T>G p.F25V Missense 1/4 - 2
12-50344686-TT-AA c.73_74inv p.F25N Missense 1/4 - 1
12-50344686-TT-GG c.73_74delinsGG p.F25G Missense 1/4 - 1
12-50344688-C-A c.75C>A p.F25L Missense 1/4 - 1
12-50344688-C-G c.75C>G p.F25L Missense 1/4 - 1
12-50344687-T-A c.74T>A p.F25Y Missense 1/4 - 1
12-50344689-TT-GG c.76_77delinsGG p.F26G Missense 1/4 - 1
12-50344692-GG-CT c.79_80delinsCT p.G27L Missense 1/4 - 1
12-50344693-G-A c.80G>A p.G27D Missense 1/4 - 1
12-50344696-T-C c.83T>C p.L28P Missense 1/4 - 7
12-50344697-C-A c.84C>A p.L28= Synonymous 1/4 - 2
12-50344697-C-G c.84C>G p.L28= Synonymous 1/4 - 2
12-50344697-C-T c.84C>T p.L28= Synonymous 1/4 - 4
12-50344698-G-A c.85G>A p.G29S Missense 1/4 - 3
12-50344699-G-T c.86G>T p.G29V Missense 1/4 - 1
12-50344704-GC-TG c.91_92delinsTG p.A31C Missense 1/4 - 1
12-50344705-C-G c.92C>G p.A31G Missense 1/4 - 2
12-50344705-C-T c.92C>T p.A31V Missense 1/4 - 1
12-50344716-CC-GG c.103_104inv p.P35G Missense 1/4 - 1
12-50344716-C-G c.103C>G p.P35A Missense 1/4 - 1
12-50344716-C-T c.103C>T p.P35S Missense 1/4 - 1
12-50344722-GC-AGCAG c.109_110delinsAGCAG p.A37delinsSS MultiAAMissense 1/4 - 1
12-50344726-T-C c.113T>C p.L38P Missense 1/4 - 2
12-50344727-G-A c.114G>A p.L38= Synonymous 1/4 - 1
12-50344729-C-A c.116C>A p.P39H Missense 1/4 - 1
12-50344732-C-T c.119C>T p.S40F Missense 1/4 - 1
12-50344736-G-A c.123G>A p.V41= Synonymous 1/4 - 1
12-50344736-G-C c.123G>C p.V41= Synonymous 1/4 - 1
12-50344736-G-T c.123G>T p.V41= Synonymous 1/4 - 1
12-50344738-T-C c.125T>C p.L42P Missense 1/4 - 1
12-50344738-TAC-T c.127_128del p.Q43Dfs*63 Frameshift 1/4 - 2
12-50344740-CAG-GAC c.127_129delinsGAC p.Q43D Missense 1/4 - 1
12-50344741-A-C c.128A>C p.Q43P Missense 1/4 - 1
12-50344743-AT-GG c.130_131delinsGG p.I44G Missense 1/4 - 1
12-50344747-C-T c.134C>T p.A45V Missense 1/4 - 1
12-50344749-A-G c.136A>G p.M46V Missense 1/4 - 1
12-50344752-G-C c.139G>C p.A47P Missense 1/4 - 1
12-50344752-GC-AG c.139_140delinsAG p.A47R Missense 1/4 - 1
12-50344752-GC-AT c.139_140delinsAT p.A47M Missense 1/4 - 1
12-50344752-GCG-AAC c.139_141delinsAAC p.A47N Missense 1/4 - 1
12-50344752-GCG-TTT c.139_141delinsTTT p.A47F Missense 1/4 - 1
12-50344752-G-T c.139G>T p.A47S Missense 1/4 - 1
12-50344753-C-T c.140C>T p.A47V Missense 1/4 - 14
12-50344754-G-A c.141G>A p.A47= Synonymous 1/4 - 3
12-50344754-G-C c.141G>C p.A47= Synonymous 1/4 - 3
12-50344754-G-T c.141G>T p.A47= Synonymous 1/4 - 3
12-50344758-GG-AA c.145_146delinsAA p.G49N Missense 1/4 - 1
12-50344764-G-T c.151G>T p.G51C Missense 1/4 - 2
12-50344772-C-G c.159C>G p.G53= Synonymous 1/4 - 1
12-50344772-C-T c.159C>T p.G53= Synonymous 1/4 - 1
12-50344782-C-T c.169C>T p.Q57* Nonsense 1/4 - 1
12-50344783-A-C c.170A>C p.Q57P Missense 1/4 - 10
12-50344784-G-C c.171G>C p.Q57H Missense 1/4 - 1
12-50344784-G-T c.171G>T p.Q57H Missense 1/4 - 1
12-50344791-G-A c.178G>A p.G60S Missense 1/4 - 4
12-50344791-G-T c.178G>T p.G60C Missense 1/4 - 1
12-50344792-G-A c.179G>A p.G60D Missense 1/4 - 2
12-50344797-A-G c.184A>G p.I62V Missense 1/4 - 1
12-50344798-T-C c.185T>C p.I62T Missense 1/4 - 2
12-50344803-G-A c.190G>A p.G64R Missense 1/4 - 10
12-50344803-G-C c.190G>C p.G64R Missense 1/4 - 7
12-50344804-G-T c.191G>T p.G64V Missense 1/4 - 1
12-50344806-G-A c.193G>A p.A65T Missense 1/4 - 1
12-50344806-G-T c.193G>T p.A65S Missense 1/4 - 1
12-50344811-C-G c.198C>G p.H66Q Missense 1/4 - 1
12-50344811-C-T c.198C>T p.H66= Synonymous 1/4 - 1
12-50344813-T-G c.200T>G p.I67S Missense 1/4 - 1
12-50344814-C-A c.201C>A p.I67= Synonymous 1/4 - 1
12-50344814-C-T c.201C>T p.I67= Synonymous 1/4 - 1
12-50344816-A-C c.203A>C p.N68T Missense 1/4 - 11
12-50344816-A-G c.203A>G p.N68S Missense 1/4 - 12
12-50344821-G-A c.208G>A p.A70T Missense 1/4 - 1
12-50344821-G-C c.208G>C p.A70P Missense 1/4 - 1
12-50344821-GC-AA c.208_209delinsAA p.A70N Missense 1/4 - 1
12-50344821-GC-AT c.208_209delinsAT p.A70I Missense 1/4 - 1
12-50344821-GC-CA c.208_209delinsCA p.A70H Missense 1/4 - 1
12-50344821-GCC-AAG c.208_210delinsAAG p.A70K Missense 1/4 - 1
12-50344821-GCC-ATG c.208_210delinsATG p.A70M Missense 1/4 - 1
12-50344821-GCC-CAA c.208_210delinsCAA p.A70Q Missense 1/4 - 1
12-50344821-GC-CG c.208_209delinsCG p.A70R Missense 1/4 - 1
12-50344821-GCC-TAA c.208_210delinsTAA p.A70* Nonsense 1/4 - 1
12-50344821-GCC-TGG c.208_210delinsTGG p.A70W Missense 1/4 - 1
12-50344821-GC-TG c.208_209delinsTG p.A70C Missense 1/4 - 1
12-50344822-C-A c.209C>A p.A70D Missense 1/4 - 11
12-50344822-CC-AG c.209_210delinsAG p.A70E Missense 1/4 - 1
12-50344822-C-G c.209C>G p.A70G Missense 1/4 - 2
12-50344822-C-T c.209C>T p.A70V Missense 1/4 - 5
12-50344823-C-A c.210C>A p.A70= Synonymous 1/4 - 1
12-50344823-C-G c.210C>G p.A70= Synonymous 1/4 - 1
12-50344823-C-T c.210C>T p.A70= Synonymous 1/4 - 3
12-50344824-G-A c.211G>A p.V71M Missense 1/4 - 11
12-50344834-C-T c.221C>T p.A74V Missense 1/4 - 1
12-50344836-T-G c.223T>G p.C75G Missense 1/4 - 2
12-50344837-G-T c.224G>T p.C75F Missense 1/4 - 1
12-50344844-G-A c.231G>A p.V77= Synonymous 1/4 - 3
12-50344844-G-C c.231G>C p.V77= Synonymous 1/4 - 1
12-50344844-G-T c.231G>T p.V77= Synonymous 1/4 - 1
12-50344846-G-C c.233G>C p.G78A Missense 1/4 - 1
12-50344848-T-A c.235T>A p.C79S Missense 1/4 - 1
12-50344848-TG-GC c.235_236delinsGC p.C79A Missense 1/4 - 2
12-50344854-G-A c.241G>A p.V81I Missense 1/4 - 3
12-50344855-T-A c.242T>A p.V81D Missense 1/4 - 1
12-50344855-T-TAGAAGGCGG c.242_243insAGAAGGCGG p.V81_S82insEGG InFrameInsertion 1/4 - 1
12-50344857-T-A c.244T>A p.S82T Missense 1/4 - 1
12-50344858-C-CGGAGAA c.245_246insGGAGAA p.S82_V83insEN InFrameInsertion 1/4 - 1
12-50344858-C-T c.245C>T p.S82F Missense 1/4 - 2
12-50344859-C-T c.246C>T p.S82= Synonymous 1/4 - 1
12-50344860-G-A c.247G>A p.V83I Missense 1/4 - 1
12-50344861-GTTCTCC-G c.248_253del p.V83_R85delinsG MultiAAMissense 1/4 - 1
12-50344863-CTC-ATG c.250_252delinsATG p.L84M Missense 1/4 - 1
12-50344863-CTC-TGG c.250_252delinsTGG p.L84W Missense 1/4 - 1
12-50344865-C-T c.252C>T p.L84= Synonymous 1/4 - 2
12-50344866-C-T c.253C>T p.R85* Nonsense 1/4 - 9
12-50344867-G-A c.254G>A p.R85Q Missense 1/4 - 2
12-50344870-C-T c.257C>T p.A86V Missense 1/4 - 3
12-50344870-GCCGCCTTCT-G c.257_265del p.A86_Y89delinsD MultiAAMissense 1/4 - 1
12-50344871-C-A c.258C>A p.A86= Synonymous 1/4 - 1
12-50344871-C-G c.258C>G p.A86= Synonymous 1/4 - 1
12-50344871-C-T c.258C>T p.A86= Synonymous 1/4 - 3
12-50344872-G-A c.259G>A p.A87T Missense 1/4 - 1
12-50344873-C-T c.260C>T p.A87V Missense 1/4 - 2
12-50344875-T-G c.262T>G p.F88V Missense 1/4 - 1
12-50344876-T-G c.263T>G p.F88C Missense 1/4 - 3
12-50344877-C-T c.264C>T p.F88= Synonymous 1/4 - 4
12-50344880-C-A c.267C>A p.Y89* Nonsense 1/4 - 2
12-50344880-C-G c.267C>G p.Y89* Nonsense 1/4 - 2
12-50344880-C-T c.267C>T p.Y89= Synonymous 1/4 - 1
12-50344881-G-A c.268G>A p.V90M Missense 1/4 - 3
12-50344887-G-A c.274G>A p.A92T Missense 1/4 - 1
12-50344887-GC-CA c.274_275delinsCA p.A92H Missense 1/4 - 1
12-50344887-GC-TT c.274_275delinsTT p.A92F Missense 1/4 - 1
12-50344899-GG-CA c.286_287delinsCA p.G96Q Missense 1/4 - 1
12-50344900-G-A c.287G>A p.G96E Missense 1/4 - 1
12-50344902-G-A c.289G>A p.A97T Missense 1/4 - 1
12-50344902-GCT-ATG c.289_291delinsATG p.A97M Missense 1/4 - 1
12-50344903-C-A c.290C>A p.A97D Missense 1/4 - 1
12-50344903-C-G c.290C>G p.A97G Missense 1/4 - 1
12-50344905-G-C c.292G>C p.V98L Missense 1/4 - 1
12-50344905-G-T c.292G>T p.V98L Missense 1/4 - 1
12-50344910-C-A c.297C>A p.A99= Synonymous 1/4 - 1
12-50344910-C-G c.297C>G p.A99= Synonymous 1/4 - 1
12-50344910-C-T c.297C>T p.A99= Synonymous 1/4 - 2
12-50344911-G-A c.298G>A p.G100R Missense 1/4 - 15
12-50344911-G-C c.298G>C p.G100R Missense 1/4 - 13
12-50344911-G-T c.298G>T p.G100* Nonsense 1/4 - 3
12-50344912-G-T c.299G>T p.G100V Missense 1/4 - 9
12-50344917-G-A c.304G>A p.A102T Missense 1/4 - 2
12-50344930-A-T c.317A>T p.E106V Missense 1/4 - 1
12-50344932-A-C c.319A>C p.I107L Missense 1/4 - 1
12-50344932-A-G c.319A>G p.I107V Missense 1/4 - 2
12-50344932-AT-GA c.319_320delinsGA p.I107D Missense 1/4 - 1
12-50344933-T-A c.320T>A p.I107N Missense 1/4 - 2
12-50344933-T-C c.320T>C p.I107T Missense 1/4 - 1
12-50344936-C-T c.323C>T p.T108M Missense 1/4 - 10
12-50344937-G-A c.324G>A p.T108= Synonymous 1/4 - 1
12-50344937-G-T c.324G>T p.T108= Synonymous 1/4 - 1
12-50344938-C-A c.325C>A p.P109T Missense 1/4 - 2
12-50344944-G-A c.331G>A p.D111N Missense 1/4 - 2
12-50344950-C-T c.337C>T p.R113C Missense 1/4 - 2
12-50344951-G-A c.338G>A p.R113H Missense 1/4 - 1
12-50344952-C-A c.339C>A p.R113= Synonymous 1/4 - 1
12-50344952-C-G c.339C>G p.R113= Synonymous 1/4 - 2
12-50344952-C-T c.339C>T p.R113= Synonymous 1/4 - 3
12-50344953-G-A c.340G>A p.G114R Missense 1/4 - 5
12-50344953-G-C c.340G>C p.G114R Missense 1/4 - 3
12-50344958-C-T c.345C>T p.D115= Synonymous 1/4 - 1
12-50344959-C-T c.346C>T p.L116= Synonymous 1/4 - 1
12-50344961-G-A c.348G>A p.L116= Synonymous 1/4 - 1
12-50344961-G-C c.348G>C p.L116= Synonymous 1/4 - 1
12-50344961-G-T c.348G>T p.L116= Synonymous 1/4 - 1
12-50344962-G-A c.349G>A p.A117T Missense 1/4 - 1
12-50344963-C-T c.350C>T p.A117V Missense 1/4 - 1
12-50344965-GTC-ATG c.352_354delinsATG p.V118M Missense 1/4 - 1
12-50344972-C-A c.359C>A p.A120D Missense 1/4 - 1
12-50344973-T-A c.360T>A p.A120= Synonymous 1/4 - 2
12-50344973-T-C c.360T>C p.A120= Synonymous 1/4 - 1
12-50344973-T-G c.360T>G p.A120= Synonymous 1/4 - 1
12-50344976-G-A c.360+3G>A - IntronicSNV - 1/3 24
12-50344978-G-T c.360+5G>T - IntronicSNV - 1/3 1
12-50345047-G-A c.360+74G>A - IntronicSNV - 1/3 1
12-50345079-G-A c.360+106G>A - IntronicSNV - 1/3 2
12-50345099-G-A c.360+126G>A - IntronicSNV - 1/3 1
12-50345206-G-A c.360+233G>A - IntronicSNV - 1/3 6
12-50345265-A-G c.360+292A>G - IntronicSNV - 1/3 1
12-50345300-G-A c.360+327G>A - IntronicSNV - 1/3 2
12-50345630-G-C c.360+657G>C - IntronicSNV - 1/3 1
12-50345671-T-A c.360+698T>A - IntronicSNV - 1/3 3
12-50347688-T-C c.361-250T>C - IntronicSNV - 1/3 1
12-50347688-T-G c.361-250T>G - IntronicSNV - 1/3 1
12-50347918-C-T c.361-20C>T - IntronicSNV - 1/3 1
12-50347938-C-T c.361C>T p.L121F Missense 2/4 - 2
12-50347937-GCT-G c.362_363del p.L121Qfs*30 SpliceAcceptorDeletion 2/4 - 1
12-50347941-AG-TT c.364_365delinsTT p.S122F Missense 2/4 - 1
12-50347944-AAC-CAA c.367_369delinsCAA p.N123Q Missense 2/4 - 3
12-50347946-AC-A c.369del p.N123Kfs*9 Frameshift 2/4 - 1
12-50347950-A-G c.373A>G p.T125A Missense 2/4 - 1
12-50347951-C-T c.374C>T p.T125M Missense 2/4 - 16
12-50347952-G-A c.375G>A p.T125= Synonymous 2/4 - 2
12-50347954-C-T c.377C>T p.T126M Missense 2/4 - 30
12-50347955-G-A c.378G>A p.T126= Synonymous 2/4 - 1
12-50347966-C-T c.389C>T p.A130V Missense 2/4 - 4
12-50347968-G-A c.391G>A p.V131M Missense 2/4 - 1
12-50347968-G-C c.391G>C p.V131L Missense 2/4 - 1
12-50347968-G-T c.391G>T p.V131L Missense 2/4 - 1
12-50347974-G-A c.397G>A p.V133M Missense 2/4 - 1
12-50347980-C-T c.403C>T p.L135F Missense 2/4 - 1
12-50347982-C-T c.405C>T p.L135= Synonymous 2/4 - 1
12-50347987-T-C c.410T>C p.L137P Missense 2/4 - 2
12-50347990-C-G c.413C>G p.T138R Missense 2/4 - 1
12-50347992-C-T c.415C>T p.L139= Synonymous 2/4 - 1
12-50347994-G-A c.417G>A p.L139= Synonymous 2/4 - 1
12-50347994-G-C c.417G>C p.L139= Synonymous 2/4 - 1
12-50347994-G-T c.417G>T p.L139= Synonymous 2/4 - 1
12-50347995-C-A c.418C>A p.Q140K Missense 2/4 - 1
12-50347997-G-T c.420G>T p.Q140H Missense 2/4 - 1
12-50347998-C-G c.421C>G p.L141V Missense 2/4 - 1
12-50348004-C-T c.427C>T p.L143F Missense 2/4 - 1
12-50348009-C-T c.432C>T p.C144= Synonymous 2/4 - 1
12-50348011-T-A c.434T>A p.I145N Missense 2/4 - 2
12-50348015-C-T c.438C>T p.F146= Synonymous 2/4 - 4
12-50348016-G-A c.439G>A p.A147T Missense 2/4 - 15
12-50348019-TC-GA c.442_443inv p.S148D Missense 2/4 - 1
12-50348019-T-G c.442T>G p.S148A Missense 2/4 - 1
12-50348021-C-T c.444C>T p.S148= Synonymous 2/4 - 2
12-50348023-C-A c.446C>A p.T149N Missense 2/4 - 1
12-50348024-C-A c.447C>A p.T149= Synonymous 2/4 - 1
12-50348024-C-G c.447C>G p.T149= Synonymous 2/4 - 1
12-50348024-C-T c.447C>T p.T149= Synonymous 2/4 - 2
12-50348025-G-A c.448G>A p.D150N Missense 2/4 - 7
12-50348027-T-A c.450T>A p.D150E Missense 2/4 - 12
12-50348027-T-G c.450T>G p.D150E Missense 2/4 - 10
12-50348028-G-T c.451G>T p.E151* Nonsense 2/4 - 1
12-50348031-C-T c.454C>T p.R152C Missense 2/4 - 1
12-50348032-G-A c.455G>A p.R152H Missense 2/4 - 1
12-50348034-CG-GA c.457_458delinsGA p.R153D Missense 2/4 - 1
12-50348035-G-A c.458G>A p.R153H Missense 2/4 - 4
12-50348037-G-A c.460G>A p.G154R Missense 2/4 - 3
12-50348037-G-C c.460G>C p.G154R Missense 2/4 - 2
12-50348040-G-A c.463G>A p.E155K Missense 2/4 - 4
12-50348042-G-A c.465G>A p.E155= Synonymous 2/4 - 1
12-50348047-C-T c.470C>T p.P157L Missense 2/4 - 1
12-50348049-G-A c.472G>A p.G158S Missense 2/4 - 2
12-50348052-A-G c.475A>G p.T159A Missense 2/4 - 1
12-50348055-C-T c.478C>T p.P160S Missense 2/4 - 1
12-50348068-T-C c.491T>C p.I164T Missense 2/4 - 1
12-50348071-G-A c.494G>A p.G165D Missense 2/4 - 1
12-50348071-G-T c.494G>T p.G165V Missense 2/4 - 2
12-50348077-C-T c.500C>T p.S167F Missense 2/4 - 1
12-50348078-T-A c.501T>A p.S167= Synonymous 2/4 - 2
12-50348078-T-C c.501T>C p.S167= Synonymous 2/4 - 25
12-50348078-T-G c.501T>G p.S167= Synonymous 2/4 - 2
12-50348078-T-TC c.501_502insC p.V168Rfs*32 Frameshift 2/4 - 2
12-50348079-G-A c.502G>A p.V168M Missense 2/4 - 12
12-50348088-G-A c.511G>A p.G171S Missense 2/4 - 1
12-50348091-C-T c.514C>T p.H172Y Missense 2/4 - 2
12-50348092-A-T c.515A>T p.H172L Missense 2/4 - 1
12-50348093-C-A c.516C>A p.H172Q Missense 2/4 - 1
12-50348093-C-G c.516C>G p.H172Q Missense 2/4 - 1
12-50348094-C-T c.517C>T p.L173F Missense 2/4 - 2
12-50348099-T-A c.522T>A p.L174= Synonymous 2/4 - 1
12-50348100-G-A c.523G>A p.G175R Missense 2/4 - 9
12-50348100-G-C c.523G>C p.G175R Missense 2/4 - 7
12-50348102-G-T c.525G>T p.G175= Synonymous 2/4 - 5
12-50348118-G-A c.525+16G>A - IntronicSNV - 2/3 1
12-50348350-G-A c.526-63G>A - IntronicSNV - 2/3 1
12-50348350-G-T c.526-63G>T - IntronicSNV - 2/3 1
12-50348359-T-C c.526-54T>C - IntronicSNV - 2/3 3
12-50348413-AT-GG c.526_527delinsGG p.I176G Missense 3/4 - 1
12-50348417-A-G c.530A>G p.H177R Missense 3/4 - 1
12-50348418-T-G c.531T>G p.H177Q Missense 3/4 - 1
12-50348423-C-A c.536C>A p.T179N Missense 3/4 - 1
12-50348425-G-A c.538G>A p.G180S Missense 3/4 - 6
12-50348425-G-C c.538G>C p.G180R Missense 3/4 - 1
12-50348426-G-A c.539G>A p.G180D Missense 3/4 - 1
12-50348429-G-A c.542G>A p.C181Y Missense 3/4 - 1
12-50348430-C-G c.543C>G p.C181W Missense 3/4 - 8
12-50348437-A-C c.550A>C p.N184H Missense 3/4 - 3
12-50348438-A-T c.551A>T p.N184I Missense 3/4 - 3
12-50348440-C-G c.553C>G p.P185A Missense 3/4 - 6
12-50348446-C-T c.559C>T p.R187C Missense 3/4 - 24
12-50348447-G-A c.560G>A p.R187H Missense 3/4 - 10
12-50348447-G-T c.560G>T p.R187L Missense 3/4 - 1
12-50348450-C-T c.563C>T p.S188F Missense 3/4 - 2
12-50348455-G-A c.568G>A p.A190T Missense 3/4 - 13
12-50348467-G-A c.580G>A p.V194I Missense 3/4 - 11
12-50348474-G-A c.587G>A p.G196D Missense 3/4 - 10
12-50348482-G-T c.595G>T p.D199Y Missense 3/4 - 1
12-50348485-G-T c.598G>T p.D200Y Missense 3/4 - 1
12-50348487-C-A c.600C>A p.D200E Missense 3/4 - 1
12-50348487-C-T c.600C>T p.D200= Synonymous 3/4 - 2
12-50348488-CAC-GAG c.601_603delinsGAG p.H201E Missense 3/4 - 1
12-50348488-C-T c.601C>T p.H201Y Missense 3/4 - 4
12-50348489-A-T c.602A>T p.H201L Missense 3/4 - 1
12-50348493-G-C c.606G>C p.W202C Missense 3/4 - 5
12-50348493-G-T c.606G>T p.W202C Missense 3/4 - 6
12-50348674-C-T c.606+181C>T - IntronicSNV - 3/3 5
12-50348929-T-C c.607-253T>C - IntronicSNV - 3/3 2
12-50349090-A-G c.607-92A>G - IntronicSNV - 3/3 6
12-50349123-C-A c.607-59C>A - IntronicSNV - 3/3 7
12-50349143-C-G c.607-39C>G - IntronicSNV - 3/3 9
12-50349143-C-T c.607-39C>T - IntronicSNV - 3/3 9
12-50349183-T-G c.608T>G p.V203G Missense 4/4 - 1
12-50349185-T-A c.610T>A p.F204I Missense 4/4 - 1
12-50349185-T-G c.610T>G p.F204V Missense 4/4 - 11
12-50349189-G-A c.614G>A p.W205* Nonsense 4/4 - 1
12-50349189-G-T c.614G>T p.W205L Missense 4/4 - 1
12-50349190-G-A c.615G>A p.W205* Nonsense 4/4 - 1
12-50349194-G-A c.619G>A p.G207R Missense 4/4 - 4
12-50349194-G-C c.619G>C p.G207R Missense 4/4 - 2
12-50349199-C-G c.624C>G p.P208= Synonymous 4/4 - 1
12-50349201-T-C c.626T>C p.L209P Missense 4/4 - 1
12-50349200-C-T c.625C>T p.L209= Synonymous 4/4 - 1
12-50349202-G-A c.627G>A p.L209= Synonymous 4/4 - 1
12-50349202-G-C c.627G>C p.L209= Synonymous 4/4 - 1
12-50349202-G-T c.627G>T p.L209= Synonymous 4/4 - 1
12-50349206-G-C c.631G>C p.G211R Missense 4/4 - 4
12-50349206-GGC-TGG c.631_633delinsTGG p.G211W Missense 4/4 - 1
12-50349208-C-A c.633C>A p.G211= Synonymous 4/4 - 2
12-50349208-C-G c.633C>G p.G211= Synonymous 4/4 - 2
12-50349208-C-T c.633C>T p.G211= Synonymous 4/4 - 3
12-50349210-C-T c.635C>T p.A212V Missense 4/4 - 2
12-50349211-C-T c.636C>T p.A212= Synonymous 4/4 - 1
12-50349216-T-G c.641T>G p.L214R Missense 4/4 - 1
12-50349218-G-A c.643G>A p.G215S Missense 4/4 - 6
12-50349218-G-T c.643G>T p.G215C Missense 4/4 - 5
12-50349219-G-A c.644G>A p.G215D Missense 4/4 - 1
12-50349220-C-A c.645C>A p.G215= Synonymous 4/4 - 1
12-50349220-C-G c.645C>G p.G215= Synonymous 4/4 - 1
12-50349220-C-T c.645C>T p.G215= Synonymous 4/4 - 1
12-50349221-T-C c.646T>C p.S216P Missense 4/4 - 11
12-50349221-T-G c.646T>G p.S216A Missense 4/4 - 1
12-50349222-C-T c.647C>T p.S216F Missense 4/4 - 5
12-50349224-CT-GC c.649_650delinsGC p.L217A Missense 4/4 - 1
12-50349227-CTC-ATG c.652_654delinsATG p.L218M Missense 4/4 - 1
12-50349227-CTC-TGG c.652_654delinsTGG p.L218W Missense 4/4 - 1
12-50349228-CT-C c.653del p.L218Pfs*20 Frameshift 4/4 - 1
12-50349230-T-C c.655T>C p.Y219H Missense 4/4 - 1
12-50349231-A-G c.656A>G p.Y219C Missense 4/4 - 1
12-50349234-A-C c.659A>C p.N220T Missense 4/4 - 1
12-50349236-TA-GC c.661_662delinsGC p.Y221A Missense 4/4 - 1
12-50349237-A-C c.662A>C p.Y221S Missense 4/4 - 1
12-50349245-T-C c.670T>C p.F224L Missense 4/4 - 3
12-50349247-T-A c.672T>A p.F224L Missense 4/4 - 2
12-50349247-T-G c.672T>G p.F224L Missense 4/4 - 2
12-50349248-C-G c.673C>G p.P225A Missense 4/4 - 1
12-50349249-C-G c.674C>G p.P225R Missense 4/4 - 1
12-50349249-C-T c.674C>T p.P225L Missense 4/4 - 2
12-50349251-C-A c.676C>A p.P226T Missense 4/4 - 1
12-50349251-C-G c.676C>G p.P226A Missense 4/4 - 1
12-50349252-C-T c.677C>T p.P226L Missense 4/4 - 1
12-50349257-A-G c.682A>G p.K228E Missense 4/4 - 8
12-50349260-AG-GA c.685_686delinsGA p.S229D Missense 4/4 - 1
12-50349260-AG-GC c.685_686delinsGC p.S229A Missense 4/4 - 1
12-50349263-C-T c.688C>T p.L230= Synonymous 4/4 - 1
12-50349263-CT-GC c.688_689delinsGC p.L230A Missense 4/4 - 1
12-50349263-CT-TA c.688_689delinsTA p.L230* Nonsense 4/4 - 1
12-50349265-GT-AG c.690_691delinsAG p.S231A Missense 4/4 - 1
12-50349266-T-C c.691T>C p.S231P Missense 4/4 - 1
12-50349267-C-A c.692C>A p.S231* Nonsense 4/4 - 1
12-50349267-C-T c.692C>T p.S231L Missense 4/4 - 1
12-50349270-A-C c.695A>C p.E232A Missense 4/4 - 1
12-50349271-G-C c.696G>C p.E232D Missense 4/4 - 3
12-50349271-G-T c.696G>T p.E232D Missense 4/4 - 2
12-50349272-C-G c.697C>G p.R233G Missense 4/4 - 1
12-50349272-CG-GC c.697_698delinsGC p.R233A Missense 4/4 - 1
12-50349272-C-T c.697C>T p.R233C Missense 4/4 - 1
12-50349273-G-A c.698G>A p.R233H Missense 4/4 - 1
12-50349275-CT-GC c.700_701delinsGC p.L234A Missense 4/4 - 3
12-50349279-C-T c.704C>T p.A235V Missense 4/4 - 1
12-50349284-CT-GC c.709_710delinsGC p.L237A Missense 4/4 - 1
12-50349284-C-T c.709C>T p.L237= Synonymous 4/4 - 1
12-50349286-G-A c.711G>A p.L237= Synonymous 4/4 - 1
12-50349286-G-C c.711G>C p.L237= Synonymous 4/4 - 1
12-50349286-G-T c.711G>T p.L237= Synonymous 4/4 - 1
12-50349287-AA-GC c.712_713delinsGC p.K238A Missense 4/4 - 1
12-50349291-G-A c.716G>A p.G239D Missense 4/4 - 1
12-50349293-CT-GC c.718_719delinsGC p.L240A Missense 4/4 - 1
12-50349294-TG-T c.721del p.E241Sfs*94 Frameshift 4/4 - 1
12-50349297-A-C c.722A>C p.E241A Missense 4/4 - 1
12-50349299-C-A c.724C>A p.P242T Missense 4/4 - 1
12-50349300-C-T c.725C>T p.P242L Missense 4/4 - 3
12-50349301-G-A c.726G>A p.P242= Synonymous 4/4 - 2
12-50349301-G-C c.726G>C p.P242= Synonymous 4/4 - 1
12-50349301-G-T c.726G>T p.P242= Synonymous 4/4 - 1
12-50349300-CG-C c.727del p.D243Tfs*92 Frameshift 4/4 - 1
12-50349302-GAC-TAA c.727_729delinsTAA p.D243* Nonsense 4/4 - 1
12-50349305-AC-GA c.730_731delinsGA p.T244D Missense 4/4 - 1
12-50349305-A-G c.730A>G p.T244A Missense 4/4 - 1
12-50349307-C-T c.732C>T p.T244= Synonymous 4/4 - 1
12-50349308-G-A c.733G>A p.D245N Missense 4/4 - 1
12-50349309-A-T c.734A>T p.D245V Missense 4/4 - 1
12-50349313-G-A c.738G>A p.W246* Nonsense 4/4 - 4
12-50349315-A-G c.740A>G p.E247G Missense 4/4 - 1
12-50349315-A-T c.740A>T p.E247V Missense 4/4 - 1
12-50349321-G-A c.746G>A p.R249H Missense 4/4 - 4
12-50349322-C-A c.747C>A p.R249= Synonymous 4/4 - 2
12-50349322-C-G c.747C>G p.R249= Synonymous 4/4 - 2
12-50349322-C-T c.747C>T p.R249= Synonymous 4/4 - 3
12-50349324-GA-G c.749del p.E250Gfs*85 Frameshift 4/4 - 1
12-50349325-G-A c.750G>A p.E250= Synonymous 4/4 - 4
12-50349329-CGA-TGG c.754_756delinsTGG p.R252W Missense 4/4 - 1
12-50349329-C-T c.754C>T p.R252* Nonsense 4/4 - 3
12-50349332-CG-TA c.757_758delinsTA p.R253* Nonsense 4/4 - 1
12-50349333-G-A c.758G>A p.R253Q Missense 4/4 - 1
12-50349335-CG-GA c.760_761delinsGA p.R254E Missense 4/4 - 1
12-50349335-C-T c.760C>T p.R254W Missense 4/4 - 4
12-50349336-G-A c.761G>A p.R254Q Missense 4/4 - 15
12-50349336-G-T c.761G>T p.R254L Missense 4/4 - 22
12-50349338-C-T c.763C>T p.Q255* Nonsense 4/4 - 4
12-50349341-TC-GA c.766_767inv p.S256E Missense 4/4 - 4
12-50349341-TCG-GAC c.766_768delinsGAC p.S256D Missense 4/4 - 31
12-50349341-T-G c.766T>G p.S256A Missense 4/4 - 53
12-50349342-C-A c.767C>A p.S256* Nonsense 4/4 - 1
12-50349342-C-T c.767C>T p.S256L Missense 4/4 - 17
12-50349343-G-A c.768G>A p.S256= Synonymous 4/4 - 1
12-50349343-G-C c.768G>C p.S256= Synonymous 4/4 - 2
12-50349343-G-T c.768G>T p.S256= Synonymous 4/4 - 1
12-50349347-G-A c.772G>A p.E258K Missense 4/4 - 21
12-50349350-C-A c.775C>A p.L259M Missense 4/4 - 1
12-50349350-C-T c.775C>T p.L259= Synonymous 4/4 - 1
12-50349356-TC-GA c.781_782inv p.S261E Missense 4/4 - 2
12-50349356-TCG-GAC c.781_783delinsGAC p.S261D Missense 4/4 - 8
12-50349356-T-G c.781T>G p.S261A Missense 4/4 - 11
12-50349357-C-A c.782C>A p.S261* Nonsense 4/4 - 1
12-50349357-C-T c.782C>T p.S261L Missense 4/4 - 2
12-50349358-GC-G c.785del p.P262Rfs*73 Frameshift 4/4 - 1
12-50349360-C-T c.785C>T p.P262L Missense 4/4 - 22
12-50349361-G-A c.786G>A p.P262= Synonymous 4/4 - 2
12-50349361-G-T c.786G>T p.P262= Synonymous 4/4 - 1
12-50349362-C-T c.787C>T p.Q263* Nonsense 4/4 - 1
12-50349365-A-C c.790A>C p.S264R Missense 4/4 - 1
12-50349365-A-G c.790A>G p.S264G Missense 4/4 - 1
12-50349365-AG-CC c.790_791delinsCC p.S264P Missense 4/4 - 1
12-50349365-AGC-GAG c.790_792delinsGAG p.S264E Missense 4/4 - 3
12-50349365-AG-GA c.790_791delinsGA p.S264D Missense 4/4 - 2
12-50349365-AG-GC c.790_791delinsGC p.S264A Missense 4/4 - 3
12-50349366-G-T c.791G>T p.S264I Missense 4/4 - 1
12-50349368-C-A c.793C>A p.L265M Missense 4/4 - 1
12-50349369-T-C c.794T>C p.L265P Missense 4/4 - 1
12-50349374-ACG-A c.799_800del p.R267Gfs*19 Frameshift 4/4 - 1
12-50349374-C-G c.799C>G p.R267G Missense 4/4 - 1
12-50349375-G-A c.800G>A p.R267Q Missense 4/4 - 1
12-50349377-GGT-TGA c.802_804delinsTGA p.G268* Nonsense 4/4 - 1
12-50349378-G-T c.803G>T p.G268V Missense 4/4 - 1
12-50349380-ACC-GAG c.805_807delinsGAG p.T269E Missense 4/4 - 2
12-50349380-A-G c.805A>G p.T269A Missense 4/4 - 1
12-50349381-C-T c.806C>T p.T269I Missense 4/4 - 1
12-50349384-AAG-A c.809_810del p.K270Sfs*16 Frameshift 4/4 - 1
12-50349384-A-G c.809A>G p.K270R Missense 4/4 - 5
12-50349386-G-A c.811G>A p.A271T Missense 4/4 - 2
12-50349387-C-T c.812C>T p.A271V Missense 4/4 - 1
12-50349389-T-C c.814T>C p.*272Rext*30 Missense 4/4 - 1
12-50349411-C-A c.*20C>A - 3-UTRSNV 4/4 - 10
12-50349765-C-G c.*374C>G - 3-UTRSNV 4/4 - 13
12-50349765-C-T c.*374C>T - 3-UTRSNV 4/4 - 13
12-50350815-T-A c.*1424T>A - 3-UTRSNV 4/4 - 1
12-50350815-T-C c.*1424T>C - 3-UTRSNV 4/4 - 1
12-50350815-T-G c.*1424T>G - 3-UTRSNV 4/4 - 1
12-50350953-T-C c.*1562T>C - 3-UTRSNV 4/4 - 12
12-50351075-T-C c.*1684T>C - 3-UTRSNV 4/4 - 9
12-50351148-A-G c.*1757A>G - 3-UTRSNV 4/4 - 1
12-50351886-A-G c.*2495A>G - 3-UTRSNV 4/4 - 3
12-50351886-A-T c.*2495A>T - 3-UTRSNV 4/4 - 3
12-50352116-A-C c.*2725A>C - 3-UTRSNV 4/4 - 2
12-50352393-G-C c.*3002G>C - 3-UTRSNV 4/4 - 16
12-50352559-T-C c.*3168T>C - 3-UTRSNV 4/4 - 1