SLC24A3

SLC24A3 solute carrier family 24 member 3

Annotation transcript: NM_020689.4

926 unique variant annotations were identified in 478 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
20-19193490-C-A c.4C>A p.R2= Synonymous 1/17 - 3
20-19193492-G-A c.6G>A p.R2= Synonymous 1/17 - 3
20-19193492-G-C c.6G>C p.R2= Synonymous 1/17 - 3
20-19193492-G-T c.6G>T p.R2= Synonymous 1/17 - 3
20-19193499-G-A c.13G>A p.G5S Missense 1/17 - 1
20-19193505-G-C c.19G>C p.E7Q Missense 1/17 - 1
20-19193508-G-A c.22G>A p.D8N Missense 1/17 - 1
20-19193509-A-G c.23A>G p.D8G Missense 1/17 - 1
20-19193514-GC-AT c.28_29delinsAT p.A10M Missense 1/17 - 1
20-19193514-GCG-TAT c.28_30delinsTAT p.A10Y Missense 1/17 - 2
20-19193514-GCG-TGT c.28_30delinsTGT p.A10C Missense 1/17 - 1
20-19193515-C-G c.29C>G p.A10G Missense 1/17 - 2
20-19193525-C-A c.39C>A p.R13= Synonymous 1/17 - 1
20-19193525-C-G c.39C>G p.R13= Synonymous 1/17 - 1
20-19193525-C-T c.39C>T p.R13= Synonymous 1/17 - 1
20-19193534-C-A c.48C>A p.R16= Synonymous 1/17 - 1
20-19193534-C-G c.48C>G p.R16= Synonymous 1/17 - 1
20-19193534-C-T c.48C>T p.R16= Synonymous 1/17 - 1
20-19193536-G-T c.50G>T p.R17L Missense 1/17 - 2
20-19193519-TCGC-T c.54_56del p.R20del InFrameDeletion 1/17 - 4
20-19193540-C-T c.54C>T p.R18= Synonymous 1/17 - 1
20-19193541-C-A c.55C>A p.R19= Synonymous 1/17 - 2
20-19193541-CGG-ATC c.55_57delinsATC p.R19I Missense 1/17 - 1
20-19193543-G-A c.57G>A p.R19= Synonymous 1/17 - 3
20-19193543-G-C c.57G>C p.R19= Synonymous 1/17 - 2
20-19193543-G-T c.57G>T p.R19= Synonymous 1/17 - 2
20-19193542-G-T c.56G>T p.R19L Missense 1/17 - 1
20-19193553-CT-GC c.67_68delinsGC p.L23A Missense 1/17 - 1
20-19193553-C-T c.67C>T p.L23= Synonymous 1/17 - 2
20-19193555-G-A c.69G>A p.L23= Synonymous 1/17 - 2
20-19193555-G-C c.69G>C p.L23= Synonymous 1/17 - 2
20-19193555-G-T c.69G>T p.L23= Synonymous 1/17 - 2
20-19193556-C-A c.70C>A p.L24M Missense 1/17 - 2
20-19193558-G-A c.72G>A p.L24= Synonymous 1/17 - 1
20-19193567-C-A c.81C>A p.L27= Synonymous 1/17 - 1
20-19193567-C-G c.81C>G p.L27= Synonymous 1/17 - 1
20-19193567-C-T c.81C>T p.L27= Synonymous 1/17 - 1
20-19193574-C-A c.88C>A p.L30M Missense 1/17 - 1
20-19193575-T-C c.89T>C p.L30P Missense 1/17 - 2
20-19193577-G-T c.91G>T p.A31S Missense 1/17 - 1
20-19193578-C-T c.92C>T p.A31V Missense 1/17 - 1
20-19193583-G-A c.97G>A p.V33M Missense 1/17 - 1
20-19193586-G-A c.100G>A p.A34T Missense 1/17 - 1
20-19193588-G-A c.102G>A p.A34= Synonymous 1/17 - 1
20-19193588-G-C c.102G>C p.A34= Synonymous 1/17 - 1
20-19193588-G-T c.102G>T p.A34= Synonymous 1/17 - 1
20-19193601-T-C c.115T>C p.S39P Missense 1/17 - 1
20-19193608-CG-GT c.122_123delinsGT p.S41C Missense 1/17 - 1
20-19193608-C-T c.122C>T p.S41L Missense 1/17 - 2
20-19193609-G-T c.123G>T p.S41= Synonymous 1/17 - 2
20-19193623-A-T c.137A>T p.Q46L Missense 1/17 - 1
20-19193627-G-C c.141G>C p.K47N Missense 1/17 - 1
20-19193627-G-T c.141G>T p.K47N Missense 1/17 - 1
20-19193682-C-G c.142+54C>G - IntronicSNV - 1/16 3
20-19193682-C-T c.142+54C>T - IntronicSNV - 1/16 5
20-19203562-A-G c.142+9934A>G - IntronicSNV - 1/16 1
20-19204187-T-A c.142+10559T>A - IntronicSNV - 1/16 1
20-19204187-T-C c.142+10559T>C - IntronicSNV - 1/16 1
20-19204186-GT-G c.142+10564del - IntronicDeletion - 1/16 1
20-19207712-T-C c.142+14084T>C - IntronicSNV - 1/16 1
20-19209807-CT-C c.142+16186del - IntronicDeletion - 1/16 1
20-19211993-A-C c.142+18365A>C - IntronicSNV - 1/16 1
20-19219764-T-A c.142+26136T>A - IntronicSNV - 1/16 2
20-19233927-G-T c.143-27676G>T - IntronicSNV - 1/16 1
20-19237431-A-G c.143-24172A>G - IntronicSNV - 1/16 1
20-19238187-G-A c.143-23416G>A - IntronicSNV - 1/16 1
20-19258393-T-C c.143-3210T>C - IntronicSNV - 1/16 1
20-19261324-G-T c.143-279G>T - IntronicSNV - 1/16 1
20-19261606-T-C c.146T>C p.L49P Missense 2/17 - 12
20-19261607-T-A c.147T>A p.L49= Synonymous 2/17 - 2
20-19261607-T-C c.147T>C p.L49= Synonymous 2/17 - 4
20-19261607-T-G c.147T>G p.L49= Synonymous 2/17 - 2
20-19261611-C-T c.151C>T p.L51F Missense 2/17 - 3
20-19261613-C-A c.153C>A p.L51= Synonymous 2/17 - 1
20-19261613-C-T c.153C>T p.L51= Synonymous 2/17 - 3
20-19261622-C-T c.162C>T p.L54= Synonymous 2/17 - 1
20-19261623-G-A c.163G>A p.V55I Missense 2/17 - 37
20-19261624-T-G c.164T>G p.V55G Missense 2/17 - 1
20-19261625-A-C c.165A>C p.V55= Synonymous 2/17 - 2
20-19261625-A-G c.165A>G p.V55= Synonymous 2/17 - 2
20-19261625-A-T c.165A>T p.V55= Synonymous 2/17 - 2
20-19261627-G-T c.167G>T p.G56V Missense 2/17 - 2
20-19261628-G-A c.168G>A p.G56= Synonymous 2/17 - 1
20-19261632-G-A c.172G>A p.D58N Missense 2/17 - 1
20-19261633-A-C c.173A>C p.D58A Missense 2/17 - 1
20-19261640-G-A c.180G>A p.K60= Synonymous 2/17 - 2
20-19261642-G-A c.182G>A p.W61* Nonsense 2/17 - 1
20-19261643-G-A c.183G>A p.W61* Nonsense 2/17 - 1
20-19261650-G-A c.190G>A p.A64T Missense 2/17 - 1
20-19261650-G-C c.190G>C p.A64P Missense 2/17 - 1
20-19261650-G-T c.190G>T p.A64S Missense 2/17 - 2
20-19261652-G-A c.192G>A p.A64= Synonymous 2/17 - 5
20-19261653-A-C c.193A>C p.R65= Synonymous 2/17 - 1
20-19261655-G-A c.195G>A p.R65= Synonymous 2/17 - 1
20-19261657-A-G c.197A>G p.K66R Missense 2/17 - 1
20-19261663-T-A c.203T>A p.M68K Missense 2/17 - 1
20-19261669-T-C c.209T>C p.V70A Missense 2/17 - 1
20-19261673-C-A c.213C>A p.N71K Missense 2/17 - 1
20-19261673-C-G c.213C>G p.N71K Missense 2/17 - 1
20-19261673-C-T c.213C>T p.N71= Synonymous 2/17 - 2
20-19261679-CT-C c.219del p.L74* Frameshift 2/17 - 1
20-19261679-T-C c.219T>C p.T73= Synonymous 2/17 - 1
20-19261685-T-G c.225T>G p.T75= Synonymous 2/17 - 2
20-19261689-G-A c.229G>A p.E77K Missense 2/17 - 4
20-19261694-T-C c.234T>C p.D78= Synonymous 2/17 - 1
20-19261695-G-T c.235G>T p.A79S Missense 2/17 - 1
20-19261696-C-A c.236C>A p.A79D Missense 2/17 - 1
20-19261696-C-T c.236C>T p.A79V Missense 2/17 - 8
20-19261697-C-A c.237C>A p.A79= Synonymous 2/17 - 1
20-19261697-C-G c.237C>G p.A79= Synonymous 2/17 - 1
20-19261697-C-T c.237C>T p.A79= Synonymous 2/17 - 3
20-19261698-G-A c.238G>A p.G80R Missense 2/17 - 1
20-19261698-G-C c.238G>C p.G80R Missense 2/17 - 1
20-19261699-G-T c.239G>T p.G80V Missense 2/17 - 1
20-19261703-C-T c.243C>T p.L81= Synonymous 2/17 - 1
20-19261704-C-T c.244C>T p.R82W Missense 2/17 - 3
20-19261705-G-A c.245G>A p.R82Q Missense 2/17 - 4
20-19261711-G-A c.251G>A p.S84N Missense 2/17 - 4
20-19261714-A-G c.254A>G p.K85R Missense 2/17 - 1
20-19261715-G-A c.255G>A p.K85= Synonymous 2/17 - 3
20-19261715-G-C c.255G>C p.K85N Missense 2/17 - 3
20-19261715-G-T c.255G>T p.K85N Missense 2/17 - 1
20-19261723-CC-TG c.263_264delinsTG p.T88M Missense 2/17 - 1
20-19261724-C-T c.264C>T p.T88= Synonymous 2/17 - 1
20-19261725-G-A c.265G>A p.E89K Missense 2/17 - 8
20-19261730-A-C c.270A>C p.P90= Synonymous 2/17 - 1
20-19261730-A-G c.270A>G p.P90= Synonymous 2/17 - 1
20-19261730-A-T c.270A>T p.P90= Synonymous 2/17 - 1
20-19261750-C-T c.271+19C>T - IntronicSNV - 2/16 2
20-19261776-G-T c.271+45G>T - IntronicSNV - 2/16 1
20-19261922-G-A c.271+191G>A - IntronicSNV - 2/16 3
20-19261922-G-T c.271+191G>T - IntronicSNV - 2/16 2
20-19265157-A-C c.271+3426A>C - IntronicSNV - 2/16 1
20-19265309-C-T c.271+3578C>T - IntronicSNV - 2/16 1
20-19271012-G-A c.271+9281G>A - IntronicSNV - 2/16 1
20-19272210-T-C c.271+10479T>C - IntronicSNV - 2/16 1
20-19273782-A-C c.271+12051A>C - IntronicSNV - 2/16 1
20-19273782-A-G c.271+12051A>G - IntronicSNV - 2/16 1
20-19276461-T-G c.271+14730T>G - IntronicSNV - 2/16 1
20-19278320-A-G c.271+16589A>G - IntronicSNV - 2/16 1
20-19280285-T-C c.271+18554T>C - IntronicSNV - 2/16 1
20-19280654-C-T c.271+18923C>T - IntronicSNV - 2/16 1
20-19299085-G-A c.271+37354G>A - IntronicSNV - 2/16 1
20-19306376-A-G c.271+44645A>G - IntronicSNV - 2/16 1
20-19306378-G-A c.271+44647G>A - IntronicSNV - 2/16 1
20-19306405-C-T c.271+44674C>T - IntronicSNV - 2/16 1
20-19306409-C-T c.271+44678C>T - IntronicSNV - 2/16 1
20-19312631-C-T c.271+50900C>T - IntronicSNV - 2/16 1
20-19314286-A-T c.271+52555A>T - IntronicSNV - 2/16 1
20-19319846-A-G c.271+58115A>G - IntronicSNV - 2/16 1
20-19319846-A-T c.271+58115A>T - IntronicSNV - 2/16 1
20-19319934-GT-G c.271+58213del - IntronicDeletion - 2/16 1
20-19333182-C-T c.271+71451C>T - IntronicSNV - 2/16 1
20-19335679-A-G c.271+73948A>G - IntronicSNV - 2/16 1
20-19335777-C-A c.271+74046C>A - IntronicSNV - 2/16 1
20-19342143-G-A c.271+80412G>A - IntronicSNV - 2/16 1
20-19344419-AT-A c.271+82695del - IntronicDeletion - 2/16 1
20-19344530-G-T c.271+82799G>T - IntronicSNV - 2/16 1
20-19346184-T-C c.271+84453T>C - IntronicSNV - 2/16 1
20-19352962-G-A c.271+91231G>A - IntronicSNV - 2/16 1
20-19353310-G-C c.271+91579G>C - IntronicSNV - 2/16 1
20-19354459-G-C c.271+92728G>C - IntronicSNV - 2/16 1
20-19356930-C-T c.271+95199C>T - IntronicSNV - 2/16 1
20-19357993-A-G c.271+96262A>G - IntronicSNV - 2/16 1
20-19358934-A-T c.271+97203A>T - IntronicSNV - 2/16 1
20-19363546-C-T c.271+101815C>T - IntronicSNV - 2/16 1
20-19364025-GT-G c.271+102304del - IntronicDeletion - 2/16 1
20-19376728-A-C c.271+114997A>C - IntronicSNV - 2/16 1
20-19379812-T-A c.272-116320T>A - IntronicSNV - 2/16 1
20-19387411-A-G c.272-108721A>G - IntronicSNV - 2/16 1
20-19393279-G-A c.272-102853G>A - IntronicSNV - 2/16 1
20-19399128-A-T c.272-97004A>T - IntronicSNV - 2/16 1
20-19399627-C-T c.272-96505C>T - IntronicSNV - 2/16 1
20-19406526-G-A c.272-89606G>A - IntronicSNV - 2/16 1
20-19406526-G-C c.272-89606G>C - IntronicSNV - 2/16 1
20-19407669-A-T c.272-88463A>T - IntronicSNV - 2/16 1
20-19420901-C-G c.272-75231C>G - IntronicSNV - 2/16 1
20-19420941-C-T c.272-75191C>T - IntronicSNV - 2/16 1
20-19426696-C-G c.272-69436C>G - IntronicSNV - 2/16 1
20-19427807-C-G c.272-68325C>G - IntronicSNV - 2/16 1
20-19441650-A-C c.272-54482A>C - IntronicSNV - 2/16 1
20-19443910-G-T c.272-52222G>T - IntronicSNV - 2/16 2
20-19455203-G-A c.272-40929G>A - IntronicSNV - 2/16 2
20-19456749-C-A c.272-39383C>A - IntronicSNV - 2/16 1
20-19456749-C-T c.272-39383C>T - IntronicSNV - 2/16 1
20-19457268-A-G c.272-38864A>G - IntronicSNV - 2/16 1
20-19459328-A-C c.272-36804A>C - IntronicSNV - 2/16 1
20-19459328-A-T c.272-36804A>T - IntronicSNV - 2/16 1
20-19465089-T-A c.272-31043T>A - IntronicSNV - 2/16 3
20-19465907-G-A c.272-30225G>A - IntronicSNV - 2/16 5
20-19466843-T-C c.272-29289T>C - IntronicSNV - 2/16 2
20-19469002-C-A c.272-27130C>A - IntronicSNV - 2/16 3
20-19469002-C-T c.272-27130C>T - IntronicSNV - 2/16 3
20-19469150-T-G c.272-26982T>G - IntronicSNV - 2/16 1
20-19469685-G-A c.272-26447G>A - IntronicSNV - 2/16 2
20-19469817-G-C c.272-26315G>C - IntronicSNV - 2/16 9
20-19469817-G-T c.272-26315G>T - IntronicSNV - 2/16 9
20-19475014-G-A c.272-21118G>A - IntronicSNV - 2/16 2
20-19475621-G-A c.272-20511G>A - IntronicSNV - 2/16 2
20-19475621-G-C c.272-20511G>C - IntronicSNV - 2/16 2
20-19477390-A-G c.272-18742A>G - IntronicSNV - 2/16 1
20-19482075-G-A c.272-14057G>A - IntronicSNV - 2/16 1
20-19484055-A-C c.272-12077A>C - IntronicSNV - 2/16 1
20-19484894-T-C c.272-11238T>C - IntronicSNV - 2/16 1
20-19496140-G-A c.280G>A p.E94K Missense 3/17 - 6
20-19496140-G-T c.280G>T p.E94* Nonsense 3/17 - 1
20-19496145-C-T c.285C>T p.F95= Synonymous 3/17 - 1
20-19496146-C-T c.286C>T p.P96S Missense 3/17 - 3
20-19496144-T-TC c.288dup p.N97Qfs*2 Frameshift 3/17 - 1
20-19496148-C-G c.288C>G p.P96= Synonymous 3/17 - 1
20-19496161-A-G c.301A>G p.T101A Missense 3/17 - 1
20-19496166-C-T c.306C>T p.N102= Synonymous 3/17 - 4
20-19496167-G-A c.307G>A p.E103K Missense 3/17 - 2
20-19496169-G-T c.309G>T p.E103D Missense 3/17 - 1
20-19496170-G-A c.310G>A p.D104N Missense 3/17 - 4
20-19496170-G-C c.310G>C p.D104H Missense 3/17 - 1
20-19496177-G-A c.317G>A p.R106K Missense 3/17 - 1
20-19496186-C-T c.326C>T p.A109V Missense 3/17 - 11
20-19496188-G-A c.328G>A p.V110M Missense 3/17 - 1
20-19496191-G-A c.331G>A p.V111I Missense 3/17 - 1
20-19496193-C-A c.333C>A p.V111= Synonymous 3/17 - 1
20-19496196-C-T c.336C>T p.L112= Synonymous 3/17 - 1
20-19496198-A-G c.338A>G p.H113R Missense 3/17 - 1
20-19496202-G-A c.342G>A p.V114= Synonymous 3/17 - 2
20-19496202-G-C c.342G>C p.V114= Synonymous 3/17 - 1
20-19496202-G-T c.342G>T p.V114= Synonymous 3/17 - 1
20-19496205-C-A c.345C>A p.L115= Synonymous 3/17 - 1
20-19496205-C-G c.345C>G p.L115= Synonymous 3/17 - 1
20-19496205-C-T c.345C>T p.L115= Synonymous 3/17 - 1
20-19496206-T-C c.346T>C p.C116R Missense 3/17 - 1
20-19499434-T-A c.348+3226T>A - IntronicSNV - 3/16 1
20-19499543-A-G c.348+3335A>G - IntronicSNV - 3/16 1
20-19502567-AT-A c.348+6368del - IntronicDeletion - 3/16 1
20-19503555-C-G c.348+7347C>G - IntronicSNV - 3/16 1
20-19504904-C-T c.348+8696C>T - IntronicSNV - 3/16 1
20-19506255-G-A c.348+10047G>A - IntronicSNV - 3/16 1
20-19506255-G-C c.348+10047G>C - IntronicSNV - 3/16 1
20-19515898-A-C c.348+19690A>C - IntronicSNV - 3/16 1
20-19522665-T-C c.348+26457T>C - IntronicSNV - 3/16 1
20-19524479-G-A c.348+28271G>A - IntronicSNV - 3/16 1
20-19526066-C-T c.348+29858C>T - IntronicSNV - 3/16 1
20-19560556-A-G c.349-88A>G - IntronicSNV - 3/16 2
20-19560654-T-C c.359T>C p.M120T Missense 4/17 - 1
20-19560656-T-C c.361T>C p.F121L Missense 4/17 - 6
20-19560658-C-A c.363C>A p.F121L Missense 4/17 - 4
20-19560658-C-G c.363C>G p.F121L Missense 4/17 - 7
20-19560662-G-T c.367G>T p.A123S Missense 4/17 - 1
20-19560663-C-T c.368C>T p.A123V Missense 4/17 - 5
20-19560664-G-A c.369G>A p.A123= Synonymous 4/17 - 26
20-19560664-G-C c.369G>C p.A123= Synonymous 4/17 - 24
20-19560664-G-T c.369G>T p.A123= Synonymous 4/17 - 25
20-19560665-C-T c.370C>T p.L124= Synonymous 4/17 - 2
20-19560671-A-G c.376A>G p.I126V Missense 4/17 - 2
20-19560678-G-T c.383G>T p.C128F Missense 4/17 - 1
20-19560683-G-T c.388G>T p.D130Y Missense 4/17 - 1
20-19560686-T-C c.391T>C p.F131L Missense 4/17 - 1
20-19560688-C-G c.393C>G p.F131L Missense 4/17 - 1
20-19560688-C-A c.393C>A p.F131L Missense 4/17 - 2
20-19560688-C-T c.393C>T p.F131= Synonymous 4/17 - 1
20-19560691-C-T c.396C>T p.F132= Synonymous 4/17 - 1
20-19560692-G-A c.397G>A p.V133I Missense 4/17 - 2
20-19560695-C-T c.400C>T p.P134S Missense 4/17 - 4
20-19560699-C-T c.404C>T p.S135F Missense 4/17 - 1
20-19560712-C-A c.417C>A p.I139= Synonymous 4/17 - 2
20-19560712-C-T c.417C>T p.I139= Synonymous 4/17 - 2
20-19560719-G-C c.423+1G>C - IntronicSNV - 4/16 1
20-19560940-C-T c.423+222C>T - IntronicSNV - 4/16 1
20-19562579-C-T c.423+1861C>T - IntronicSNV - 4/16 2
20-19565615-C-G c.424C>G p.R142G Missense 5/17 - 1
20-19565615-CGC-TGA c.424_426delinsTGA p.R142* Nonsense 5/17 - 1
20-19565615-C-T c.424C>T p.R142C Missense 5/17 - 2
20-19565617-C-T c.426C>T p.R142= Synonymous 5/17 - 1
20-19565621-C-T c.430C>T p.H144Y Missense 5/17 - 1
20-19565627-A-G c.436A>G p.S146G Missense 5/17 - 1
20-19565628-G-T c.437G>T p.S146I Missense 5/17 - 1
20-19565630-G-C c.439G>C p.E147Q Missense 5/17 - 1
20-19565635-T-A c.444T>A p.D148E Missense 5/17 - 1
20-19565635-T-G c.444T>G p.D148E Missense 5/17 - 1
20-19565642-G-A c.451G>A p.G151R Missense 5/17 - 1
20-19565642-G-C c.451G>C p.G151R Missense 5/17 - 1
20-19565644-G-A c.453G>A p.G151= Synonymous 5/17 - 1
20-19565644-G-C c.453G>C p.G151= Synonymous 5/17 - 1
20-19565644-G-T c.453G>T p.G151= Synonymous 5/17 - 1
20-19565645-G-T c.454G>T p.A152S Missense 5/17 - 1
20-19565649-CA-TG c.458_459inv p.T153M Missense 5/17 - 1
20-19565661-C-T c.470C>T p.A157V Missense 5/17 - 4
20-19565662-G-A c.471G>A p.A157= Synonymous 5/17 - 1
20-19565664-G-A c.473G>A p.G158E Missense 5/17 - 7
20-19565670-C-T c.479C>T p.S160L Missense 5/17 - 5
20-19565671-G-A c.480G>A p.S160= Synonymous 5/17 - 3
20-19565678-G-T c.487G>T p.E163* Nonsense 5/17 - 1
20-19565691-C-T c.500C>T p.S167L Missense 5/17 - 10
20-19565692-G-A c.501G>A p.S167= Synonymous 5/17 - 1
20-19565692-G-C c.501G>C p.S167= Synonymous 5/17 - 1
20-19565692-G-T c.501G>T p.S167= Synonymous 5/17 - 1
20-19565693-G-A c.502G>A p.V168I Missense 5/17 - 16
20-19565695-C-A c.504C>A p.V168= Synonymous 5/17 - 3
20-19565695-C-G c.504C>G p.V168= Synonymous 5/17 - 3
20-19565695-C-T c.504C>T p.V168= Synonymous 5/17 - 3
20-19566074-C-T c.509-11C>T - IntronicSNV - 5/16 1
20-19566085-G-A c.509G>A p.G170E Missense 6/17 - 1
20-19566089-C-A c.513C>A p.V171= Synonymous 6/17 - 2
20-19566089-C-G c.513C>G p.V171= Synonymous 6/17 - 2
20-19566089-C-T c.513C>T p.V171= Synonymous 6/17 - 3
20-19566098-C-A c.522C>A p.T174= Synonymous 6/17 - 1
20-19566098-C-G c.522C>G p.T174= Synonymous 6/17 - 1
20-19566098-C-T c.522C>T p.T174= Synonymous 6/17 - 1
20-19566102-G-T c.526G>T p.G176C Missense 6/17 - 1
20-19566104-C-A c.528C>A p.G176= Synonymous 6/17 - 1
20-19566104-C-G c.528C>G p.G176= Synonymous 6/17 - 1
20-19566104-C-T c.528C>T p.G176= Synonymous 6/17 - 2
20-19566105-G-A c.529G>A p.D177N Missense 6/17 - 7
20-19566106-A-G c.530A>G p.D177G Missense 6/17 - 1
20-19566108-GTG-ATC c.532_534delinsATC p.V178I Missense 6/17 - 1
20-19566109-TG-T c.536del p.G179Efs*36 Frameshift 6/17 - 2
20-19566112-G-C c.536G>C p.G179A Missense 6/17 - 2
20-19566119-C-A c.543C>A p.G181= Synonymous 6/17 - 2
20-19566119-C-G c.543C>G p.G181= Synonymous 6/17 - 2
20-19566119-C-T c.543C>T p.G181= Synonymous 6/17 - 3
20-19566121-CC-TG c.545_546delinsTG p.T182M Missense 6/17 - 1
20-19566121-C-T c.545C>T p.T182I Missense 6/17 - 1
20-19566125-C-A c.549C>A p.I183= Synonymous 6/17 - 2
20-19566125-C-G c.549C>G p.I183M Missense 6/17 - 1
20-19566125-C-T c.549C>T p.I183= Synonymous 6/17 - 7
20-19566126-G-A c.550G>A p.V184M Missense 6/17 - 1
20-19566131-C-T c.555C>T p.G185= Synonymous 6/17 - 3
20-19566133-C-T c.557C>T p.S186L Missense 6/17 - 1
20-19566136-C-G c.560C>G p.A187G Missense 6/17 - 1
20-19566136-C-T c.560C>T p.A187V Missense 6/17 - 4
20-19566137-G-A c.561G>A p.A187= Synonymous 6/17 - 3
20-19566137-G-C c.561G>C p.A187= Synonymous 6/17 - 2
20-19566137-G-T c.561G>T p.A187= Synonymous 6/17 - 3
20-19566141-T-C c.565T>C p.F189L Missense 6/17 - 1
20-19566143-C-A c.567C>A p.F189L Missense 6/17 - 1
20-19566143-C-G c.567C>G p.F189L Missense 6/17 - 1
20-19566145-A-G c.569A>G p.N190S Missense 6/17 - 5
20-19566150-C-A c.574C>A p.L192M Missense 6/17 - 1
20-19566150-C-T c.574C>T p.L192= Synonymous 6/17 - 2
20-19566153-T-A c.577T>A p.C193S Missense 6/17 - 2
20-19566160-T-A c.584T>A p.I195N Missense 6/17 - 1
20-19566161-T-A c.585T>A p.I195= Synonymous 6/17 - 1
20-19566161-T-C c.585T>C p.I195= Synonymous 6/17 - 1
20-19566167-C-A c.591C>A p.V197= Synonymous 6/17 - 2
20-19566167-C-G c.591C>G p.V197= Synonymous 6/17 - 1
20-19566167-C-T c.591C>T p.V197= Synonymous 6/17 - 1
20-19566174-C-T c.598C>T p.L200F Missense 6/17 - 1
20-19566180-G-T c.604G>T p.A202S Missense 6/17 - 1
20-19566181-C-T c.605C>T p.A202V Missense 6/17 - 2
20-19566183-G-A c.607G>A p.G203R Missense 6/17 - 2
20-19566185-G-A c.609G>A p.G203= Synonymous 6/17 - 1
20-19566198-G-A c.612+10G>A - IntronicSNV - 6/16 1
20-19566199-C-T c.612+11C>T - IntronicSNV - 6/16 1
20-19566239-G-A c.612+51G>A - IntronicSNV - 6/16 1
20-19571581-G-C c.612+5393G>C - IntronicSNV - 6/16 2
20-19581055-C-T c.612+14867C>T - IntronicSNV - 6/16 1
20-19588164-C-G c.612+21976C>G - IntronicSNV - 6/16 1
20-19591673-C-G c.612+25485C>G - IntronicSNV - 6/16 1
20-19591835-A-G c.612+25647A>G - IntronicSNV - 6/16 1
20-19602042-G-A c.613-32664G>A - IntronicSNV - 6/16 1
20-19605403-G-C c.613-29303G>C - IntronicSNV - 6/16 1
20-19616429-C-T c.613-18277C>T - IntronicSNV - 6/16 2
20-19620310-T-C c.613-14396T>C - IntronicSNV - 6/16 1
20-19630524-G-A c.613-4182G>A - IntronicSNV - 6/16 2
20-19632504-C-CAAG c.613-2200_613-2199insGAA - IntronicInsertion - 6/16 1
20-19634351-C-A c.613-355C>A - IntronicSNV - 6/16 1
20-19634709-G-T c.616G>T p.V206L Missense 7/17 - 1
20-19634720-C-T c.627C>T p.S209= Synonymous 7/17 - 2
20-19634721-T-A c.628T>A p.S210T Missense 7/17 - 2
20-19634722-C-T c.629C>T p.S210F Missense 7/17 - 1
20-19634729-C-G c.636C>G p.C212W Missense 7/17 - 2
20-19634730-C-T c.637C>T p.L213= Synonymous 7/17 - 3
20-19634732-G-A c.639G>A p.L213= Synonymous 7/17 - 18
20-19634732-G-C c.639G>C p.L213= Synonymous 7/17 - 17
20-19634732-G-T c.639G>T p.L213= Synonymous 7/17 - 3
20-19634739-G-T c.646G>T p.D216Y Missense 7/17 - 1
20-19634741-T-A c.648T>A p.D216E Missense 7/17 - 2
20-19634741-T-G c.648T>G p.D216E Missense 7/17 - 3
20-19634743-C-G c.650C>G p.S217C Missense 7/17 - 5
20-19634747-T-A c.654T>A p.I218= Synonymous 7/17 - 15
20-19634747-T-C c.654T>C p.I218= Synonymous 7/17 - 19
20-19634756-G-A c.663G>A p.T221= Synonymous 7/17 - 1
20-19634757-C-T c.664C>T p.L222= Synonymous 7/17 - 2
20-19634759-G-A c.666G>A p.L222= Synonymous 7/17 - 2
20-19634759-G-C c.666G>C p.L222= Synonymous 7/17 - 2
20-19634759-G-T c.666G>T p.L222= Synonymous 7/17 - 5
20-19634765-G-A c.672G>A p.V224= Synonymous 7/17 - 2
20-19634768-C-A c.675C>A p.I225= Synonymous 7/17 - 1
20-19634768-C-T c.675C>T p.I225= Synonymous 7/17 - 1
20-19634770-C-T c.677C>T p.A226V Missense 7/17 - 1
20-19634777-C-A c.684C>A p.I228= Synonymous 7/17 - 1
20-19634777-C-T c.684C>T p.I228= Synonymous 7/17 - 7
20-19634787-C-G c.687+7C>G - IntronicSNV - 7/16 1
20-19634831-G-A c.687+51G>A - IntronicSNV - 7/16 1
20-19637342-C-T c.687+2562C>T - IntronicSNV - 7/16 1
20-19644100-T-A c.688-2408T>A - IntronicSNV - 7/16 1
20-19644100-T-G c.688-2408T>G - IntronicSNV - 7/16 1
20-19644129-A-C c.688-2379A>C - IntronicSNV - 7/16 1
20-19646475-G-GTGTC c.688-32_688-31insGTCT - IntronicInsertion - 7/16 1
20-19646475-G-GTGTGTC c.688-32_688-31insGTGTCT - IntronicInsertion - 7/16 1
20-19646475-G-GTGTGTGTC c.688-32_688-31insGTGTGTCT - IntronicInsertion - 7/16 1
20-19646475-G-GTGTGTGTGTC c.688-32_688-31insGTGTGTGTCT - IntronicInsertion - 7/16 1
20-19646513-T-G c.693T>G p.I231M Missense 8/17 - 2
20-19646523-A-G c.703A>G p.K235E Missense 8/17 - 1
20-19646520-GA-G c.705del p.V236Ffs*7 Frameshift 8/17 - 1
20-19646530-C-T c.710C>T p.S237F Missense 8/17 - 3
20-19646531-C-T c.711C>T p.S237= Synonymous 8/17 - 2
20-19646533-G-A c.713G>A p.W238* Nonsense 8/17 - 1
20-19649716-C-T c.713+3183C>T - IntronicSNV - 8/16 3
20-19650324-G-A c.713+3791G>A - IntronicSNV - 8/16 2
20-19654080-T-A c.714-165T>A - IntronicSNV - 8/16 1
20-19654247-G-T c.716G>T p.W239L Missense 9/17 - 1
20-19654257-A-C c.726A>C p.L242F Missense 9/17 - 2
20-19654257-A-T c.726A>T p.L242F Missense 9/17 - 2
20-19654261-C-T c.730C>T p.L244F Missense 9/17 - 1
20-19654267-C-T c.736C>T p.L246= Synonymous 9/17 - 1
20-19654269-G-A c.738G>A p.L246= Synonymous 9/17 - 1
20-19654269-G-C c.738G>C p.L246= Synonymous 9/17 - 1
20-19654269-G-T c.738G>T p.L246= Synonymous 9/17 - 1
20-19654270-A-C c.739A>C p.M247L Missense 9/17 - 1
20-19654270-A-T c.739A>T p.M247L Missense 9/17 - 1
20-19654272-G-A c.741G>A p.M247I Missense 9/17 - 2
20-19654272-G-C c.741G>C p.M247I Missense 9/17 - 1
20-19654272-G-T c.741G>T p.M247I Missense 9/17 - 1
20-19654275-T-C c.744T>C p.Y248= Synonymous 9/17 - 2
20-19654276-C-G c.745C>G p.L249V Missense 9/17 - 7
20-19654287-T-G c.756T>G p.I252M Missense 9/17 - 1
20-19654290-C-T c.759C>T p.V253= Synonymous 9/17 - 1
20-19654440-TTG-T c.767+145_767+146del - IntronicDeletion - 9/16 1
20-19654454-A-G c.767+156A>G - IntronicSNV - 9/16 3
20-19654454-A-T c.767+156A>T - IntronicSNV - 9/16 2
20-19662502-A-G c.768A>G p.K256= Synonymous 10/17 - 1
20-19662507-A-C c.773A>C p.N258T Missense 10/17 - 1
20-19662508-C-T c.774C>T p.N258= Synonymous 10/17 - 4
20-19662509-G-T c.775G>T p.A259S Missense 10/17 - 1
20-19662521-C-T c.787C>T p.Q263* Nonsense 10/17 - 2
20-19662522-A-C c.788A>C p.Q263P Missense 10/17 - 1
20-19662523-G-T c.789G>T p.Q263H Missense 10/17 - 1
20-19662532-G-T c.798G>T p.E266D Missense 10/17 - 1
20-19662533-AGG-CAT c.799_801delinsCAT p.R267H Missense 10/17 - 1
20-19662534-G-A c.800G>A p.R267K Missense 10/17 - 1
20-19662534-G-C c.800G>C p.R267T Missense 10/17 - 1
20-19662537-G-A c.803G>A p.R268K Missense 10/17 - 1
20-19662539-A-G c.805A>G p.T269A Missense 10/17 - 4
20-19662541-A-C c.807A>C p.T269= Synonymous 10/17 - 1
20-19662541-A-G c.807A>G p.T269= Synonymous 10/17 - 1
20-19662541-A-T c.807A>T p.T269= Synonymous 10/17 - 1
20-19662542-A-T c.808A>T p.K270* Nonsense 10/17 - 1
20-19662545-G-A c.811G>A p.G271S Missense 10/17 - 3
20-19662551-G-A c.817G>A p.G273R Missense 10/17 - 5
20-19662552-G-A c.818G>A p.G273E Missense 10/17 - 2
20-19662553-G-A c.819G>A p.G273= Synonymous 10/17 - 3
20-19662553-G-GC c.819_820insC p.N274Qfs*11 Frameshift 10/17 - 2
20-19662555-A-G c.821A>G p.N274S Missense 10/17 - 1
20-19662560-G-A c.826G>A p.V276I Missense 10/17 - 2
20-19662565-C-T c.831C>T p.N277= Synonymous 10/17 - 1
20-19662566-G-A c.832G>A p.G278R Missense 10/17 - 6
20-19662567-G-A c.833G>A p.G278E Missense 10/17 - 3
20-19662569-T-G c.835T>G p.L279V Missense 10/17 - 1
20-19662572-G-T c.838G>T p.A280S Missense 10/17 - 1
20-19662577-C-T c.843C>T p.N281= Synonymous 10/17 - 1
20-19662580-T-C c.846T>C p.N282= Synonymous 10/17 - 1
20-19662586-A-G c.852A>G p.E284= Synonymous 10/17 - 1
20-19662584-GA-G c.853del p.I285Lfs*25 Frameshift 10/17 - 1
20-19662590-G-A c.856G>A p.D286N Missense 10/17 - 2
20-19662596-A-C c.862A>C p.S288R Missense 10/17 - 1
20-19662597-G-T c.863G>T p.S288I Missense 10/17 - 1
20-19662598-C-T c.864C>T p.S288= Synonymous 10/17 - 2
20-19662607-C-T c.873C>T p.C291= Synonymous 10/17 - 2
20-19662608-G-A c.874G>A p.D292N Missense 10/17 - 1
20-19662610-C-A c.876C>A p.D292E Missense 10/17 - 1
20-19662610-C-G c.876C>G p.D292E Missense 10/17 - 1
20-19662610-C-T c.876C>T p.D292= Synonymous 10/17 - 2
20-19662611-G-A c.877G>A p.A293T Missense 10/17 - 1
20-19662635-G-A c.901G>A p.A301T Missense 10/17 - 1
20-19662790-CAT-C c.901+155_901+156del - IntronicDeletion - 10/16 1
20-19664825-T-G c.907T>G p.F303V Missense 11/17 - 1
20-19664827-C-T c.909C>T p.F303= Synonymous 11/17 - 6
20-19664831-C-T c.913C>T p.R305C Missense 11/17 - 1
20-19664832-G-A c.914G>A p.R305H Missense 11/17 - 2
20-19664835-A-T c.917A>T p.K306I Missense 11/17 - 1
20-19664841-CA-GG c.923_924delinsGG p.S308W Missense 11/17 - 1
20-19664841-CA-TT c.923_924delinsTT p.S308F Missense 11/17 - 2
20-19664841-C-T c.923C>T p.S308L Missense 11/17 - 1
20-19664842-A-C c.924A>C p.S308= Synonymous 11/17 - 1
20-19664842-A-G c.924A>G p.S308= Synonymous 11/17 - 1
20-19664842-A-T c.924A>T p.S308= Synonymous 11/17 - 1
20-19664852-G-A c.934G>A p.V312I Missense 11/17 - 1
20-19664857-C-T c.939C>T p.D313= Synonymous 11/17 - 3
20-19664858-G-A c.940G>A p.E314K Missense 11/17 - 6
20-19664864-C-A c.946C>A p.L316M Missense 11/17 - 1
20-19664868-C-A c.950C>A p.S317* Nonsense 11/17 - 1
20-19664868-CA-TT c.950_951delinsTT p.S317F Missense 11/17 - 1
20-19664868-C-G c.950C>G p.S317* Nonsense 11/17 - 1
20-19664877-C-T c.959C>T p.P320L Missense 11/17 - 1
20-19664885-C-A c.967C>A p.L323I Missense 11/17 - 1
20-19664885-C-G c.967C>G p.L323V Missense 11/17 - 4
20-19664888-T-C c.970T>C p.S324P Missense 11/17 - 1
20-19664889-C-T c.971C>T p.S324F Missense 11/17 - 2
20-19664897-G-C c.979G>C p.E327Q Missense 11/17 - 3
20-19664909-C-A c.991C>A p.R331= Synonymous 11/17 - 1
20-19664909-C-G c.991C>G p.R331G Missense 11/17 - 1
20-19664909-C-T c.991C>T p.R331* Nonsense 11/17 - 2
20-19664911-A-C c.993A>C p.R331= Synonymous 11/17 - 1
20-19664911-A-G c.993A>G p.R331= Synonymous 11/17 - 1
20-19664911-A-T c.993A>T p.R331= Synonymous 11/17 - 1
20-19664910-G-A c.992G>A p.R331Q Missense 11/17 - 4
20-19664910-G-T c.992G>T p.R331L Missense 11/17 - 1
20-19664914-C-T c.996C>T p.I332= Synonymous 11/17 - 2
20-19664921-A-C c.1003A>C p.T335P Missense 11/17 - 1
20-19664922-C-G c.1004C>G p.T335S Missense 11/17 - 1
20-19664929-C-T c.1011C>T p.H337= Synonymous 11/17 - 1
20-19664930-T-C c.1012T>C p.F338L Missense 11/17 - 1
20-19664933-C-T c.1015C>T p.P339S Missense 11/17 - 5
20-19664937-CC-AA c.1019_1020delinsAA p.P340Q Missense 11/17 - 1
20-19664937-C-G c.1019C>G p.P340R Missense 11/17 - 1
20-19664937-C-T c.1019C>T p.P340L Missense 11/17 - 1
20-19664932-TC-T c.1020del p.K341Rfs*11 Frameshift 11/17 - 1
20-19664932-T-TC c.1020dup p.K341Qfs*14 Frameshift 11/17 - 1
20-19664938-CA-C c.1022del p.K341Rfs*11 Frameshift 11/17 - 3
20-19664942-A-T c.1024A>T p.T342S Missense 11/17 - 3
20-19664943-C-G c.1025C>G p.T342S Missense 11/17 - 6
20-19664945-C-A c.1027C>A p.R343= Synonymous 11/17 - 1
20-19664945-C-T c.1027C>T p.R343W Missense 11/17 - 1
20-19664948-C-G c.1030C>G p.L344V Missense 11/17 - 1
20-19664950-C-A c.1032C>A p.L344= Synonymous 11/17 - 1
20-19664953-C-T c.1035C>T p.S345= Synonymous 11/17 - 1
20-19664955-T-C c.1037T>C p.M346T Missense 11/17 - 1
20-19664958-C-T c.1040C>T p.A347V Missense 11/17 - 1
20-19664963-C-A c.1045C>A p.R349S Missense 11/17 - 1
20-19664964-G-C c.1046G>C p.R349P Missense 11/17 - 1
20-19664964-G-T c.1046G>T p.R349L Missense 11/17 - 4
20-19664966-A-C c.1048A>C p.M350L Missense 11/17 - 1
20-19664966-A-T c.1048A>T p.M350L Missense 11/17 - 1
20-19664971-G-C c.1053G>C p.L351F Missense 11/17 - 1
20-19664971-G-T c.1053G>T p.L351F Missense 11/17 - 1
20-19664974-C-A c.1056C>A p.I352= Synonymous 11/17 - 1
20-19664974-C-T c.1056C>T p.I352= Synonymous 11/17 - 2
20-19664978-G-A c.1060G>A p.E354K Missense 11/17 - 1
20-19664984-C-A c.1062+4C>A - IntronicSNV - 11/16 1
20-19665744-AG-CT c.1063_1064inv p.R355L Missense 12/17 - 1
20-19665746-A-G c.1065A>G p.R355= Synonymous 12/17 - 1
20-19665748-A-G c.1067A>G p.Q356R Missense 12/17 - 1
20-19665750-A-T c.1069A>T p.R357* Nonsense 12/17 - 1
20-19665751-G-A c.1070G>A p.R357K Missense 12/17 - 3
20-19665753-T-C c.1072T>C p.L358= Synonymous 12/17 - 1
20-19665755-G-A c.1074G>A p.L358= Synonymous 12/17 - 1
20-19665761-C-A c.1080C>A p.N360K Missense 12/17 - 1
20-19665762-AG-TT c.1081_1082delinsTT p.S361F Missense 12/17 - 1
20-19665765-AGG-CAT c.1084_1086delinsCAT p.R362H Missense 12/17 - 1
20-19665767-G-A c.1086G>A p.R362= Synonymous 12/17 - 3
20-19665768-G-A c.1087G>A p.A363T Missense 12/17 - 5
20-19665770-T-A c.1089T>A p.A363= Synonymous 12/17 - 2
20-19665770-T-C c.1089T>C p.A363= Synonymous 12/17 - 1
20-19665770-T-G c.1089T>G p.A363= Synonymous 12/17 - 1
20-19665779-C-T c.1098C>T p.N366= Synonymous 12/17 - 4
20-19665780-G-A c.1099G>A p.G367R Missense 12/17 - 2
20-19665781-G-A c.1100G>A p.G367E Missense 12/17 - 1
20-19665783-G-A c.1102G>A p.E368K Missense 12/17 - 1
20-19665796-C-T c.1115C>T p.A372V Missense 12/17 - 1
20-19665797-C-A c.1116C>A p.A372= Synonymous 12/17 - 1
20-19665797-C-G c.1116C>G p.A372= Synonymous 12/17 - 1
20-19665797-C-T c.1116C>T p.A372= Synonymous 12/17 - 4
20-19665800-C-G c.1119C>G p.I373M Missense 12/17 - 1
20-19665805-T-C c.1124T>C p.I375T Missense 12/17 - 1
20-19665806-C-T c.1125C>T p.I375= Synonymous 12/17 - 1
20-19665811-T-G c.1130T>G p.I377S Missense 12/17 - 1
20-19665814-A-G c.1133A>G p.K378R Missense 12/17 - 4
20-19665822-G-A c.1141G>A p.V381M Missense 12/17 - 4
20-19665824-G-T c.1143G>T p.V381= Synonymous 12/17 - 1
20-19665825-G-A c.1144G>A p.E382K Missense 12/17 - 6
20-19665825-G-T c.1144G>T p.E382* Nonsense 12/17 - 1
20-19665833-G-A c.1152G>A p.G384= Synonymous 12/17 - 2
20-19665834-A-T c.1153A>T p.T385S Missense 12/17 - 1
20-19665839-G-A c.1158G>A p.G386= Synonymous 12/17 - 1
20-19665839-G-C c.1158G>C p.G386= Synonymous 12/17 - 1
20-19665839-G-T c.1158G>T p.G386= Synonymous 12/17 - 1
20-19665840-C-T c.1159C>T p.P387S Missense 12/17 - 2
20-19665841-C-A c.1160C>A p.P387H Missense 12/17 - 1
20-19665842-C-A c.1161C>A p.P387= Synonymous 12/17 - 2
20-19665843-AG-TT c.1162_1163delinsTT p.S388F Missense 12/17 - 1
20-19665852-C-T c.1171C>T p.P391S Missense 12/17 - 1
20-19665861-G-T c.1180G>T p.G394C Missense 12/17 - 4
20-19665864-G-A c.1183G>A p.V395M Missense 12/17 - 4
20-19665865-T-A c.1184T>A p.V395E Missense 12/17 - 2
20-19665870-G-A c.1189G>A p.G397R Missense 12/17 - 1
20-19665872-G-A c.1191G>A p.G397= Synonymous 12/17 - 1
20-19665872-G-C c.1191G>C p.G397= Synonymous 12/17 - 1
20-19665872-G-T c.1191G>T p.G397= Synonymous 12/17 - 1
20-19665874-C-T c.1193C>T p.T398I Missense 12/17 - 1
20-19665875-A-T c.1194A>T p.T398= Synonymous 12/17 - 2
20-19665876-CG-TA c.1195_1196delinsTA p.R399* Nonsense 12/17 - 1
20-19665876-C-T c.1195C>T p.R399W Missense 12/17 - 4
20-19665877-G-A c.1196G>A p.R399Q Missense 12/17 - 2
20-19665880-G-A c.1199G>A p.R400K Missense 12/17 - 3
20-19665882-G-A c.1201G>A p.D401N Missense 12/17 - 3
20-19665882-G-T c.1201G>T p.D401Y Missense 12/17 - 2
20-19665883-A-T c.1202A>T p.D401V Missense 12/17 - 1
20-19665884-C-T c.1203C>T p.D401= Synonymous 12/17 - 2
20-19665885-G-A c.1204G>A p.D402N Missense 12/17 - 5
20-19665891-G-C c.1210G>C p.V404L Missense 12/17 - 1
20-19665891-G-T c.1210G>T p.V404L Missense 12/17 - 1
20-19665897-G-A c.1216G>A p.E406K Missense 12/17 - 1
20-19665897-G-C c.1216G>C p.E406Q Missense 12/17 - 1
20-19665898-A-T c.1217A>T p.E406V Missense 12/17 - 4
20-19665900-G-A c.1219G>A p.A407T Missense 12/17 - 1
20-19665903-G-A c.1222G>A p.G408S Missense 12/17 - 1
20-19665909-G-A c.1228G>A p.E410K Missense 12/17 - 13
20-19665914-A-C c.1233A>C p.T411= Synonymous 12/17 - 1
20-19665914-A-G c.1233A>G p.T411= Synonymous 12/17 - 1
20-19665914-A-T c.1233A>T p.T411= Synonymous 12/17 - 1
20-19665916-A-T c.1235A>T p.E412V Missense 12/17 - 3
20-19665913-CAG-C c.1236_1237del p.N413* Frameshift 12/17 - 2
20-19665917-G-GT c.1236_1237insT p.N413* Nonsense 12/17 - 2
20-19665924-A-C c.1243A>C p.N415H Missense 12/17 - 1
20-19665926-T-C c.1245T>C p.N415= Synonymous 12/17 - 1
20-19665927-G-A c.1246G>A p.E416K Missense 12/17 - 1
20-19665929-G-A c.1248G>A p.E416= Synonymous 12/17 - 2
20-19665930-G-A c.1249G>A p.D417N Missense 12/17 - 1
20-19665935-T-A c.1254T>A p.N418K Missense 12/17 - 1
20-19665935-T-C c.1254T>C p.N418= Synonymous 12/17 - 1
20-19665935-T-G c.1254T>G p.N418K Missense 12/17 - 1
20-19665936-G-A c.1255G>A p.E419K Missense 12/17 - 1
20-19665936-G-T c.1255G>T p.E419* Nonsense 12/17 - 1
20-19665938-G-A c.1257G>A p.E419= Synonymous 12/17 - 3
20-19665938-G-C c.1257G>C p.E419D Missense 12/17 - 4
20-19665938-G-GT c.1257_1258insT p.N420* Nonsense 12/17 - 1
20-19665938-G-T c.1257G>T p.E419D Missense 12/17 - 3
20-19665942-G-A c.1261G>A p.D421N Missense 12/17 - 2
20-19665947-G-A c.1266G>A p.E422= Synonymous 12/17 - 1
20-19665948-G-A c.1267G>A p.E423K Missense 12/17 - 4
20-19665951-G-A c.1270G>A p.E424K Missense 12/17 - 4
20-19665954-G-T c.1273G>T p.E425* Nonsense 12/17 - 1
20-19665957-G-A c.1276G>A p.E426K Missense 12/17 - 1
20-19665959-G-A c.1278G>A p.E426= Synonymous 12/17 - 3
20-19665960-G-A c.1279G>A p.D427N Missense 12/17 - 8
20-19665960-G-C c.1279G>C p.D427H Missense 12/17 - 1
20-19665962-C-T c.1281C>T p.D427= Synonymous 12/17 - 1
20-19665969-G-A c.1288G>A p.D430N Missense 12/17 - 2
20-19665972-G-A c.1291G>A p.D431N Missense 12/17 - 5
20-19665973-A-G c.1292A>G p.D431G Missense 12/17 - 1
20-19665975-G-C c.1294G>C p.E432Q Missense 12/17 - 1
20-19665979-G-T c.1298G>T p.G433V Missense 12/17 - 1
20-19665981-C-T c.1300C>T p.P434S Missense 12/17 - 4
20-19665982-C-T c.1301C>T p.P434L Missense 12/17 - 3
20-19665990-C-T c.1309C>T p.P437S Missense 12/17 - 2
20-19665995-C-T c.1314C>T p.F438= Synonymous 12/17 - 3
20-19666000-C-A c.1319C>A p.T440N Missense 12/17 - 1
20-19666000-CC-AG c.1319_1320delinsAG p.T440K Missense 12/17 - 1
20-19666001-C-A c.1320C>A p.T440= Synonymous 12/17 - 1
20-19666001-C-G c.1320C>G p.T440= Synonymous 12/17 - 1
20-19666001-C-T c.1320C>T p.T440= Synonymous 12/17 - 2
20-19666002-C-T c.1321C>T p.P441S Missense 12/17 - 1
20-19666003-C-T c.1322C>T p.P441L Missense 12/17 - 2
20-19666004-C-A c.1323C>A p.P441= Synonymous 12/17 - 2
20-19666004-C-G c.1323C>G p.P441= Synonymous 12/17 - 2
20-19666004-C-T c.1323C>T p.P441= Synonymous 12/17 - 6
20-19673767-T-C c.1325-136T>C - IntronicSNV - 12/16 4
20-19673771-A-G c.1325-132A>G - IntronicSNV - 12/16 4
20-19673860-T-TTTA c.1325-42_1325-41insTAT - IntronicInsertion - 12/16 1
20-19673859-G-GTTA c.1325-41_1325-39dup - IntronicInsertion - 12/16 4
20-19673863-T-A c.1325-40T>A - IntronicSNV - 12/16 1
20-19673863-T-TTA c.1325-39_1325-38insAT - IntronicInsertion - 12/16 2
20-19673864-T-TA c.1325-39_1325-38insA - IntronicInsertion - 12/16 2
20-19673903-C-T c.1325C>T p.S442L Missense 13/17 - 4
20-19673904-G-A c.1326G>A p.S442= Synonymous 13/17 - 1
20-19673904-G-C c.1326G>C p.S442= Synonymous 13/17 - 1
20-19673904-G-T c.1326G>T p.S442= Synonymous 13/17 - 1
20-19673913-G-T c.1335G>T p.L445= Synonymous 13/17 - 1
20-19673914-G-A c.1336G>A p.E446K Missense 13/17 - 7
20-19673915-A-G c.1337A>G p.E446G Missense 13/17 - 2
20-19673922-G-A c.1344G>A p.V448= Synonymous 13/17 - 1
20-19673932-T-C c.1354T>C p.F452L Missense 13/17 - 1
20-19673939-G-A c.1361G>A p.W454* Nonsense 13/17 - 2
20-19673939-G-C c.1361G>C p.W454S Missense 13/17 - 1
20-19673940-G-A c.1362G>A p.W454* Nonsense 13/17 - 2
20-19673943-G-A c.1365G>A p.P455= Synonymous 13/17 - 2
20-19673943-G-C c.1365G>C p.P455= Synonymous 13/17 - 2
20-19673943-G-T c.1365G>T p.P455= Synonymous 13/17 - 2
20-19673947-A-T c.1369A>T p.S457C Missense 13/17 - 1
20-19673949-T-C c.1371T>C p.S457= Synonymous 13/17 - 1
20-19673949-T-G c.1371T>G p.S457R Missense 13/17 - 1
20-19673952-C-T c.1374C>T p.F458= Synonymous 13/17 - 5
20-19673953-G-A c.1375G>A p.V459I Missense 13/17 - 1
20-19673955-C-G c.1377C>G p.V459= Synonymous 13/17 - 1
20-19673975-A-G c.1397A>G p.N466S Missense 13/17 - 1
20-19673981-A-C c.1403A>C p.N468T Missense 13/17 - 1
20-19673982-C-T c.1404C>T p.N468= Synonymous 13/17 - 2
20-19673988-G-C c.1410G>C p.P470= Synonymous 13/17 - 1
20-19673993-G-A c.1415G>A p.W472* Nonsense 13/17 - 1
20-19673994-G-A c.1416G>A p.W472* Nonsense 13/17 - 1
20-19673999-A-G c.1421A>G p.K474R Missense 13/17 - 1
20-19674001-T-C c.1423T>C p.W475R Missense 13/17 - 1
20-19674002-G-A c.1424G>A p.W475* Nonsense 13/17 - 1
20-19674003-G-C c.1425G>C p.W475C Missense 13/17 - 2
20-19674007-A-G c.1429A>G p.M477V Missense 13/17 - 1
20-19674010-G-A c.1432G>A p.V478M Missense 13/17 - 5
20-19674010-GTG-ATC c.1432_1434delinsATC p.V478I Missense 13/17 - 1
20-19674014-C-T c.1436C>T p.T479M Missense 13/17 - 5
20-19674023-C-T c.1445C>T p.S482F Missense 13/17 - 1
20-19674028-A-C c.1450A>C p.T484P Missense 13/17 - 1
20-19674029-C-T c.1451C>T p.T484M Missense 13/17 - 1
20-19674031-CTG-C c.1456_1457del p.W486Dfs*23 Frameshift 13/17 - 1
20-19674039-C-T c.1461C>T p.I487= Synonymous 13/17 - 4
20-19674040-G-A c.1462G>A p.A488T Missense 13/17 - 2
20-19674043-G-C c.1465G>C p.A489P Missense 13/17 - 1
20-19674045-C-G c.1467C>G p.A489= Synonymous 13/17 - 1
20-19674050-C-G c.1472C>G p.S491C Missense 13/17 - 1
20-19674050-C-T c.1472C>T p.S491F Missense 13/17 - 1
20-19674051-C-A c.1473C>A p.S491= Synonymous 13/17 - 1
20-19674051-C-G c.1473C>G p.S491= Synonymous 13/17 - 1
20-19674051-C-T c.1473C>T p.S491= Synonymous 13/17 - 1
20-19674052-T-G c.1474T>G p.Y492D Missense 13/17 - 1
20-19674054-C-A c.1476C>A p.Y492* Nonsense 13/17 - 4
20-19674054-C-G c.1476C>G p.Y492* Nonsense 13/17 - 2
20-19674057-G-A c.1479G>A p.M493I Missense 13/17 - 2
20-19674062-T-G c.1484T>G p.V495G Missense 13/17 - 1
20-19674065-G-A c.1487G>A p.W496* Nonsense 13/17 - 1
20-19674142-T-G c.1491+73T>G - IntronicSNV - 13/16 4
20-19674149-G-A c.1491+80G>A - IntronicSNV - 13/16 3
20-19674218-G-T c.1491+149G>T - IntronicSNV - 13/16 2
20-19674256-T-G c.1491+187T>G - IntronicSNV - 13/16 2
20-19677176-C-T c.1492-265C>T - IntronicSNV - 13/16 1
20-19677449-C-T c.1500C>T p.I500= Synonymous 14/17 - 1
20-19677453-G-A c.1504G>A p.G502S Missense 14/17 - 1
20-19677453-G-C c.1504G>C p.G502R Missense 14/17 - 1
20-19677458-C-T c.1509C>T p.Y503= Synonymous 14/17 - 2
20-19677461-C-T c.1512C>T p.T504= Synonymous 14/17 - 3
20-19677462-C-A c.1513C>A p.L505M Missense 14/17 - 4
20-19677462-C-T c.1513C>T p.L505= Synonymous 14/17 - 3
20-19677464-G-T c.1515G>T p.L505= Synonymous 14/17 - 1
20-19677465-G-A c.1516G>A p.G506R Missense 14/17 - 2
20-19677465-G-C c.1516G>C p.G506R Missense 14/17 - 1
20-19677465-G-T c.1516G>T p.G506W Missense 14/17 - 1
20-19677466-G-A c.1517G>A p.G506E Missense 14/17 - 2
20-19677468-A-G c.1519A>G p.I507V Missense 14/17 - 1
20-19677474-G-A c.1525G>A p.D509N Missense 14/17 - 1
20-19677476-C-T c.1527C>T p.D509= Synonymous 14/17 - 2
20-19677477-G-A c.1528G>A p.V510I Missense 14/17 - 4
20-19677478-T-C c.1529T>C p.V510A Missense 14/17 - 1
20-19677483-A-G c.1534A>G p.M512V Missense 14/17 - 1
20-19677485-G-A c.1536G>A p.M512I Missense 14/17 - 1
20-19677485-G-C c.1536G>C p.M512I Missense 14/17 - 1
20-19677485-G-T c.1536G>T p.M512I Missense 14/17 - 1
20-19677486-G-A c.1537G>A p.G513R Missense 14/17 - 3
20-19677486-G-C c.1537G>C p.G513R Missense 14/17 - 2
20-19677487-G-A c.1538G>A p.G513E Missense 14/17 - 1
20-19677489-A-C c.1540A>C p.I514L Missense 14/17 - 1
20-19677492-A-C c.1543A>C p.T515P Missense 14/17 - 1
20-19677492-A-G c.1543A>G p.T515A Missense 14/17 - 3
20-19677493-C-A c.1544C>A p.T515N Missense 14/17 - 3
20-19677493-C-T c.1544C>T p.T515I Missense 14/17 - 3
20-19677497-C-T c.1548C>T p.F516= Synonymous 14/17 - 3
20-19677498-C-T c.1549C>T p.L517= Synonymous 14/17 - 1
20-19677509-G-A c.1560G>A p.G520= Synonymous 14/17 - 2
20-19677511-C-T c.1562C>T p.T521I Missense 14/17 - 2
20-19677513-AG-CC c.1564_1565delinsCC p.S522P Missense 14/17 - 1
20-19677516-G-A c.1567G>A p.V523M Missense 14/17 - 1
20-19677519-C-A c.1570C>A p.P524T Missense 14/17 - 1
20-19677519-C-T c.1570C>T p.P524S Missense 14/17 - 2
20-19677520-C-T c.1571C>T p.P524L Missense 14/17 - 1
20-19677522-G-A c.1573G>A p.D525N Missense 14/17 - 6
20-19677525-T-A c.1576T>A p.C526S Missense 14/17 - 2
20-19677526-G-T c.1577G>T p.C526F Missense 14/17 - 2
20-19677532-C-A c.1583C>A p.A528D Missense 14/17 - 1
20-19677534-A-ACAATGAGGCTG c.1585_1586insCAATGAGGCTG p.S529Tfs*30 Frameshift 14/17 - 1
20-19677536-C-T c.1587C>T p.S529= Synonymous 14/17 - 2
20-19677539-C-T c.1590C>T p.L530= Synonymous 14/17 - 1
20-19677542-T-C c.1593T>C p.I531= Synonymous 14/17 - 1
20-19677543-G-C c.1594G>C p.V532L Missense 14/17 - 2
20-19677543-G-T c.1594G>T p.V532L Missense 14/17 - 1
20-19677546-G-A c.1597G>A p.A533T Missense 14/17 - 6
20-19677550-G-T c.1601G>T p.R534I Missense 14/17 - 1
20-19677555-G-A c.1606G>A p.G536R Missense 14/17 - 2
20-19677556-G-T c.1606+1G>T - IntronicSNV - 14/16 2
20-19677615-AAGGGAGGGAGGG-A c.1606+70_1606+81del - IntronicDeletion - 14/16 3
20-19677625-G-A c.1606+70G>A - IntronicSNV - 14/16 1
20-19677627-G-A c.1606+72G>A - IntronicSNV - 14/16 2
20-19677629-G-A c.1606+74G>A - IntronicSNV - 14/16 1
20-19677650-G-A c.1606+95G>A - IntronicSNV - 14/16 1
20-19677714-G-A c.1606+159G>A - IntronicSNV - 14/16 2
20-19679212-G-T c.1607G>T p.G536V Missense 15/17 - 1
20-19679218-G-A c.1613G>A p.G538E Missense 15/17 - 1
20-19679218-G-C c.1613G>C p.G538A Missense 15/17 - 1
20-19679221-A-G c.1616A>G p.D539G Missense 15/17 - 1
20-19679223-A-G c.1618A>G p.M540V Missense 15/17 - 1
20-19679225-G-A c.1620G>A p.M540I Missense 15/17 - 1
20-19679225-G-C c.1620G>C p.M540I Missense 15/17 - 1
20-19679225-G-T c.1620G>T p.M540I Missense 15/17 - 1
20-19679226-G-A c.1621G>A p.A541T Missense 15/17 - 1
20-19679227-C-A c.1622C>A p.A541D Missense 15/17 - 3
20-19679228-T-A c.1623T>A p.A541= Synonymous 15/17 - 2
20-19679228-T-C c.1623T>C p.A541= Synonymous 15/17 - 2
20-19679228-T-G c.1623T>G p.A541= Synonymous 15/17 - 2
20-19679240-C-A c.1635C>A p.S545= Synonymous 15/17 - 1
20-19679240-C-G c.1635C>G p.S545= Synonymous 15/17 - 1
20-19679240-C-T c.1635C>T p.S545= Synonymous 15/17 - 1
20-19679241-A-T c.1636A>T p.I546F Missense 15/17 - 1
20-19679246-G-A c.1641G>A p.G547= Synonymous 15/17 - 1
20-19679246-G-C c.1641G>C p.G547= Synonymous 15/17 - 1
20-19679246-G-T c.1641G>T p.G547= Synonymous 15/17 - 1
20-19679247-AG-CT c.1642_1643inv p.S548L Missense 15/17 - 1
20-19679247-A-C c.1642A>C p.S548R Missense 15/17 - 1
20-19679249-C-A c.1644C>A p.S548R Missense 15/17 - 1
20-19679249-C-G c.1644C>G p.S548R Missense 15/17 - 1
20-19679252-C-T c.1647C>T p.N549= Synonymous 15/17 - 2
20-19679253-G-A c.1648G>A p.V550M Missense 15/17 - 1
20-19679263-T-C c.1658T>C p.I553T Missense 15/17 - 1
20-19679264-C-T c.1659C>T p.I553= Synonymous 15/17 - 1
20-19679265-C-T c.1660C>T p.L554= Synonymous 15/17 - 2
20-19679274-C-T c.1669C>T p.L557F Missense 15/17 - 1
20-19679277-G-T c.1672G>T p.G558C Missense 15/17 - 1
20-19679278-G-C c.1673G>C p.G558A Missense 15/17 - 1
20-19679283-C-T c.1678C>T p.P560S Missense 15/17 - 4
20-19679284-C-T c.1679C>T p.P560L Missense 15/17 - 1
20-19679295-C-T c.1690C>T p.Q564* Nonsense 15/17 - 1
20-19679297-G-C c.1692G>C p.Q564H Missense 15/17 - 1
20-19679297-G-T c.1692G>T p.Q564H Missense 15/17 - 1
20-19679308-T-G c.1703T>G p.V568G Missense 15/17 - 1
20-19679316-G-A c.1711G>A p.G571R Missense 15/17 - 8
20-19679316-G-C c.1711G>C p.G571R Missense 15/17 - 3
20-19679321-C-A c.1716C>A p.S572= Synonymous 15/17 - 1
20-19679321-C-G c.1716C>G p.S572= Synonymous 15/17 - 1
20-19679321-C-T c.1716C>T p.S572= Synonymous 15/17 - 1
20-19679323-A-G c.1718A>G p.Y573C Missense 15/17 - 1
20-19679324-C-T c.1719C>T p.Y573= Synonymous 15/17 - 1
20-19679325-G-A c.1719+1G>A - IntronicSNV - 15/16 1
20-19679418-A-G c.1719+94A>G - IntronicSNV - 15/16 1
20-19679433-G-A c.1719+109G>A - IntronicSNV - 15/16 1
20-19679459-C-T c.1719+135C>T - IntronicSNV - 15/16 1
20-19688147-G-A c.1719+8823G>A - IntronicSNV - 15/16 1
20-19698175-C-T c.1723C>T p.R575W Missense 16/17 - 1
20-19698176-G-A c.1724G>A p.R575Q Missense 16/17 - 1
20-19698177-G-C c.1725G>C p.R575= Synonymous 16/17 - 2
20-19698188-G-A c.1736G>A p.R579K Missense 16/17 - 1
20-19698189-G-A c.1737G>A p.R579= Synonymous 16/17 - 1
20-19698190-GGG-AGC c.1738_1740delinsAGC p.G580S Missense 16/17 - 1
20-19698191-G-C c.1739G>C p.G580A Missense 16/17 - 1
20-19698193-C-A c.1741C>A p.L581M Missense 16/17 - 1
20-19698203-C-T c.1751C>T p.S584F Missense 16/17 - 6
20-19698204-C-A c.1752C>A p.S584= Synonymous 16/17 - 2
20-19698204-C-G c.1752C>G p.S584= Synonymous 16/17 - 2
20-19698204-C-T c.1752C>T p.S584= Synonymous 16/17 - 7
20-19698205-G-A c.1753G>A p.V585I Missense 16/17 - 3
20-19698206-T-C c.1754T>C p.V585A Missense 16/17 - 1
20-19698208-G-A c.1756G>A p.G586S Missense 16/17 - 1
20-19698211-T-C c.1759T>C p.L587= Synonymous 16/17 - 1
20-19698213-G-A c.1761G>A p.L587= Synonymous 16/17 - 1
20-19698214-C-T c.1762C>T p.L588F Missense 16/17 - 1
20-19698216-C-T c.1764C>T p.L588= Synonymous 16/17 - 1
20-19698220-G-A c.1768G>A p.A590T Missense 16/17 - 1
20-19698221-C-A c.1769C>A p.A590D Missense 16/17 - 1
20-19698227-T-G c.1775T>G p.V592G Missense 16/17 - 1
20-19698233-T-G c.1781T>G p.V594G Missense 16/17 - 3
20-19698237-G-A c.1785G>A p.T595= Synonymous 16/17 - 1
20-19698237-G-C c.1785G>C p.T595= Synonymous 16/17 - 1
20-19698237-G-T c.1785G>T p.T595= Synonymous 16/17 - 1
20-19698259-C-A c.1785+22C>A - IntronicSNV - 16/16 1
20-19698259-C-T c.1785+22C>T - IntronicSNV - 16/16 1
20-19701552-C-T c.1786-83C>T - IntronicSNV - 16/16 1
20-19701635-G-A c.1786G>A p.V596M Missense 17/17 - 1
20-19701638-T-C c.1789T>C p.F597L Missense 17/17 - 2
20-19701640-C-T c.1791C>T p.F597= Synonymous 17/17 - 3
20-19701643-C-A c.1794C>A p.G598= Synonymous 17/17 - 1
20-19701644-G-A c.1795G>A p.V599I Missense 17/17 - 3
20-19701645-T-C c.1796T>C p.V599A Missense 17/17 - 1
20-19701647-C-T c.1798C>T p.H600Y Missense 17/17 - 2
20-19701648-A-G c.1799A>G p.H600R Missense 17/17 - 1
20-19701668-G-A c.1819G>A p.D607N Missense 17/17 - 2
20-19701678-T-A c.1829T>A p.L610Q Missense 17/17 - 4
20-19701678-TG-AT c.1829_1830delinsAT p.L610H Missense 17/17 - 3
20-19701681-G-A c.1832G>A p.G611D Missense 17/17 - 1
20-19701682-C-T c.1833C>T p.G611= Synonymous 17/17 - 2
20-19701684-G-A c.1835G>A p.C612Y Missense 17/17 - 1
20-19701686-G-T c.1837G>T p.G613W Missense 17/17 - 3
20-19701687-G-A c.1838G>A p.G613E Missense 17/17 - 1
20-19701690-G-A c.1841G>A p.C614Y Missense 17/17 - 2
20-19701694-C-T c.1845C>T p.L615= Synonymous 17/17 - 3
20-19701695-C-A c.1846C>A p.L616I Missense 17/17 - 1
20-19701695-C-T c.1846C>T p.L616F Missense 17/17 - 3
20-19701697-C-A c.1848C>A p.L616= Synonymous 17/17 - 1
20-19701697-C-G c.1848C>G p.L616= Synonymous 17/17 - 1
20-19701697-C-T c.1848C>T p.L616= Synonymous 17/17 - 1
20-19701698-C-A c.1849C>A p.L617M Missense 17/17 - 5
20-19701698-C-T c.1849C>T p.L617= Synonymous 17/17 - 1
20-19701700-G-A c.1851G>A p.L617= Synonymous 17/17 - 1
20-19701700-G-C c.1851G>C p.L617= Synonymous 17/17 - 1
20-19701700-G-T c.1851G>T p.L617= Synonymous 17/17 - 1
20-19701704-G-T c.1855G>T p.G619C Missense 17/17 - 1
20-19701723-C-T c.1874C>T p.S625F Missense 17/17 - 2
20-19701727-C-T c.1878C>T p.I626= Synonymous 17/17 - 2
20-19701730-G-C c.1881G>C p.M627I Missense 17/17 - 1
20-19701731-A-G c.1882A>G p.T628A Missense 17/17 - 1
20-19701739-C-T c.1890C>T p.F630= Synonymous 17/17 - 2
20-19701741-A-C c.1892A>C p.N631T Missense 17/17 - 2
20-19701743-G-A c.1894G>A p.V632M Missense 17/17 - 5
20-19701745-G-A c.1896G>A p.V632= Synonymous 17/17 - 1
20-19701745-G-C c.1896G>C p.V632= Synonymous 17/17 - 1
20-19701745-G-T c.1896G>T p.V632= Synonymous 17/17 - 1
20-19701755-G-C c.1906G>C p.V636L Missense 17/17 - 1
20-19701755-G-T c.1906G>T p.V636L Missense 17/17 - 1
20-19701757-G-A c.1908G>A p.V636= Synonymous 17/17 - 1
20-19701757-G-C c.1908G>C p.V636= Synonymous 17/17 - 1
20-19701761-C-T c.1912C>T p.L638= Synonymous 17/17 - 1
20-19701763-G-A c.1914G>A p.L638= Synonymous 17/17 - 1
20-19701763-G-C c.1914G>C p.L638= Synonymous 17/17 - 1
20-19701763-G-T c.1914G>T p.L638= Synonymous 17/17 - 1
20-19701766-C-A c.1917C>A p.P639= Synonymous 17/17 - 1
20-19701766-C-G c.1917C>G p.P639= Synonymous 17/17 - 1
20-19701766-C-T c.1917C>T p.P639= Synonymous 17/17 - 1
20-19701771-G-A c.1922G>A p.C641Y Missense 17/17 - 2
20-19701772-C-T c.1923C>T p.C641= Synonymous 17/17 - 2
20-19701775-G-A c.1926G>A p.G642= Synonymous 17/17 - 1
20-19701775-G-C c.1926G>C p.G642= Synonymous 17/17 - 1
20-19701775-G-T c.1926G>T p.G642= Synonymous 17/17 - 1
20-19701832-C-A c.*48C>A - 3-UTRSNV 17/17 - 1
20-19701832-C-T c.*48C>T - 3-UTRSNV 17/17 - 1
20-19701833-G-A c.*49G>A - 3-UTRSNV 17/17 - 1
20-19701833-G-T c.*49G>T - 3-UTRSNV 17/17 - 1
20-19701868-G-A c.*84G>A - 3-UTRSNV 17/17 - 1
20-19701935-C-T c.*151C>T - 3-UTRSNV 17/17 - 2
20-19701943-A-C c.*159A>C - 3-UTRSNV 17/17 - 9
20-19702049-G-A c.*265G>A - 3-UTRSNV 17/17 - 4
20-19702049-G-T c.*265G>T - 3-UTRSNV 17/17 - 4
20-19702171-G-A c.*387G>A - 3-UTRSNV 17/17 - 5
20-19702694-C-G c.*910C>G - 3-UTRSNV 17/17 - 3
20-19702694-C-T c.*910C>T - 3-UTRSNV 17/17 - 3