SIRPG

SIRPG signal regulatory protein gamma

Annotation transcript: NM_018556.4

605 unique variant annotations were identified in 397 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
20-1609940-G-A c.*345C>T - 3_prime_UTR_variant 6/6 - 1
20-1609952-C-T c.*333G>A - 3_prime_UTR_variant 6/6 - 2
20-1610062-A-C c.*223T>G - 3_prime_UTR_variant 6/6 - 5
20-1610201-C-T c.*84G>A - 3_prime_UTR_variant 6/6 - 1
20-1610551-T-A c.*3-269A>T - intron_variant - 5/5 35
20-1610551-T-C c.*3-269A>G - intron_variant - 5/5 35
20-1610772-C-T c.*2+96G>A - IntronicSNV - 5/5 1
20-1610790-G-A c.*2+78C>T - IntronicSNV - 5/5 6
20-1610790-G-T c.*2+78C>A - IntronicSNV - 5/5 6
20-1610812-G-A c.*2+56C>T - IntronicSNV - 5/5 6
20-1610877-T-C c.1157A>G p.K386R Missense 5/6 - 1
20-1610885-C-T c.1149G>A p.W383* Nonsense 5/6 - 1
20-1610886-C-T c.1148G>A p.W383* Nonsense 5/6 - 1
20-1610894-G-A c.1140C>T p.Y380= Synonymous 5/6 - 15
20-1610897-G-A c.1137C>T p.I379= Synonymous 5/6 - 1
20-1610901-G-A c.1133C>T p.P378L Missense 5/6 - 1
20-1610902-G-A c.1132C>T p.P378S Missense 5/6 - 2
20-1610904-C-A c.1130G>T p.G377V Missense 5/6 - 1
20-1610904-C-T c.1130G>A p.G377D Missense 5/6 - 1
20-1610908-G-A c.1126C>T p.L376= Synonymous 5/6 - 1
20-1610909-G-A c.1125C>T p.L375= Synonymous 5/6 - 1
20-1610912-G-A c.1122C>T p.V374= Synonymous 5/6 - 1
20-1610912-G-C c.1122C>G p.V374= Synonymous 5/6 - 1
20-1610912-G-T c.1122C>A p.V374= Synonymous 5/6 - 1
20-1610917-C-A c.1117G>T p.A373S Missense 5/6 - 1
20-1610918-T-A c.1116A>T p.I372= Synonymous 5/6 - 2
20-1610924-G-A c.1110C>T p.L370= Synonymous 5/6 - 1
20-1610924-G-C c.1110C>G p.L370= Synonymous 5/6 - 1
20-1610924-G-T c.1110C>A p.L370= Synonymous 5/6 - 1
20-1610939-G-A c.1095C>T p.S365= Synonymous 5/6 - 20
20-1610940-G-A c.1094C>T p.S365F Missense 5/6 - 4
20-1610940-G-C c.1094C>G p.S365C Missense 5/6 - 1
20-1610943-G-A c.1091C>T p.S364L Missense 5/6 - 1
20-1610946-G-A c.1088C>T p.A363V Missense 5/6 - 1
20-1610947-C-T c.1087G>A p.A363T Missense 5/6 - 1
20-1611918-G-A c.1082-966C>T - IntronicSNV - 4/5 1
20-1612279-G-A c.1082-1327C>T - IntronicSNV - 4/5 2
20-1612279-G-C c.1082-1327C>G - IntronicSNV - 4/5 2
20-1612282-T-G c.1082-1330A>C - IntronicSNV - 4/5 2
20-1612491-C-T c.1082-1539G>A - IntronicSNV - 4/5 2
20-1612819-A-G c.1082-1867T>C - IntronicSNV - 4/5 2
20-1613011-T-C c.1082-2059A>G - IntronicSNV - 4/5 1
20-1613956-A-G c.1081+1957T>C - IntronicSNV - 4/5 2
20-1613956-A-T c.1081+1957T>A - IntronicSNV - 4/5 2
20-1614288-T-C c.1081+1625A>G - IntronicSNV - 4/5 2
20-1614385-G-T c.1081+1528C>A - IntronicSNV - 4/5 1
20-1614600-T-A c.1081+1313A>T - IntronicSNV - 4/5 1
20-1615417-C-T c.1081+496G>A - IntronicSNV - 4/5 1
20-1615544-T-A c.1081+369A>T - IntronicSNV - 4/5 3
20-1615544-T-C c.1081+369A>G - IntronicSNV - 4/5 3
20-1615544-T-G c.1081+369A>C - IntronicSNV - 4/5 3
20-1615661-T-C c.1081+252A>G - IntronicSNV - 4/5 3
20-1615673-A-G c.1081+240T>C - IntronicSNV - 4/5 1
20-1615673-A-T c.1081+240T>A - IntronicSNV - 4/5 1
20-1615676-C-G c.1081+237G>C - IntronicSNV - 4/5 1
20-1615688-CA-C c.1081+224del - IntronicDeletion - 4/5 1
20-1615781-T-G c.1081+132A>C - IntronicSNV - 4/5 1
20-1615883-A-C c.1081+30T>G - IntronicSNV - 4/5 2
20-1615883-A-G c.1081+30T>C - IntronicSNV - 4/5 3
20-1615906-A-C c.1081+7T>G - IntronicSNV - 4/5 1
20-1615912-C-T c.1081+1G>A - IntronicSNV - 4/5 1
20-1615914-A-T c.1080T>A p.P360= Synonymous 4/6 - 1
20-1615916-G-A c.1078C>T p.P360S Missense 4/6 - 2
20-1615916-G-T c.1078C>A p.P360T Missense 4/6 - 3
20-1615917-G-A c.1077C>T p.T359= Synonymous 4/6 - 1
20-1615927-G-A c.1067C>T p.S356L Missense 4/6 - 1
20-1615931-T-A c.1063A>T p.S355C Missense 4/6 - 1
20-1615934-G-T c.1060C>A p.Q354K Missense 4/6 - 5
20-1615936-T-C c.1058A>G p.D353G Missense 4/6 - 2
20-1615937-C-T c.1057G>A p.D353N Missense 4/6 - 5
20-1615941-C-A c.1053G>T p.Q351H Missense 4/6 - 2
20-1615941-C-G c.1053G>C p.Q351H Missense 4/6 - 2
20-1615943-G-A c.1051C>T p.Q351* Nonsense 4/6 - 1
20-1615944-G-C c.1050C>G p.H350Q Missense 4/6 - 1
20-1615944-G-T c.1050C>A p.H350Q Missense 4/6 - 1
20-1615947-G-A c.1047C>T p.V349= Synonymous 4/6 - 2
20-1615947-G-C c.1047C>G p.V349= Synonymous 4/6 - 1
20-1615947-G-T c.1047C>A p.V349= Synonymous 4/6 - 2
20-1615953-G-A c.1041C>T p.V347= Synonymous 4/6 - 3
20-1615955-C-A c.1039G>T p.V347F Missense 4/6 - 2
20-1615955-C-T c.1039G>A p.V347I Missense 4/6 - 1
20-1615957-T-C c.1037A>G p.E346G Missense 4/6 - 1
20-1615959-T-C c.1035A>G p.L345= Synonymous 4/6 - 19
20-1615959-T-G c.1035A>C p.L345= Synonymous 4/6 - 15
20-1615962-G-A c.1032C>T p.A344= Synonymous 4/6 - 2
20-1615962-G-C c.1032C>G p.A344= Synonymous 4/6 - 1
20-1615962-G-T c.1032C>A p.A344= Synonymous 4/6 - 1
20-1615967-G-T c.1027C>A p.L343I Missense 4/6 - 1
20-1615968-G-A c.1026C>T p.R342= Synonymous 4/6 - 2
20-1615968-G-C c.1026C>G p.R342= Synonymous 4/6 - 1
20-1615968-G-T c.1026C>A p.R342= Synonymous 4/6 - 1
20-1615969-C-T c.1025G>A p.R342H Missense 4/6 - 2
20-1615970-G-A c.1024C>T p.R342C Missense 4/6 - 1
20-1615975-C-T c.1019G>A p.S340N Missense 4/6 - 1
20-1615977-G-A c.1017C>T p.V339= Synonymous 4/6 - 2
20-1615977-G-C c.1017C>G p.V339= Synonymous 4/6 - 2
20-1615977-G-T c.1017C>A p.V339= Synonymous 4/6 - 1
20-1615980-C-A c.1014G>T p.A338= Synonymous 4/6 - 2
20-1615980-C-G c.1014G>C p.A338= Synonymous 4/6 - 1
20-1615980-C-T c.1014G>A p.A338= Synonymous 4/6 - 2
20-1615981-G-A c.1013C>T p.A338V Missense 4/6 - 1
20-1615984-AGCT-A c.1007_1009del p.Q336del InFrameDeletion 4/6 - 1
20-1615988-G-T c.1006C>A p.Q336K Missense 4/6 - 1
20-1615991-C-A c.1003G>T p.G335W Missense 4/6 - 1
20-1615994-C-T c.1000G>A p.D334N Missense 4/6 - 2
20-1616007-G-T c.987C>A p.C329* Nonsense 4/6 - 1
20-1616011-G-A c.983C>T p.T328I Missense 4/6 - 1
20-1616019-C-G c.975G>C p.V325= Synonymous 4/6 - 1
20-1616020-A-G c.974T>C p.V325A Missense 4/6 - 1
20-1616021-C-T c.973G>A p.V325M Missense 4/6 - 1
20-1616024-C-T c.970G>A p.D324N Missense 4/6 - 2
20-1616027-C-CA c.966_967insT p.D323* Nonsense 4/6 - 1
20-1616027-C-T c.967G>A p.D323N Missense 4/6 - 1
20-1616028-C-T c.966G>A p.R322= Synonymous 4/6 - 1
20-1616030-T-C c.964A>G p.R322G Missense 4/6 - 2
20-1616033-G-T c.961C>A p.Q321K Missense 4/6 - 2
20-1616035-T-C c.959A>G p.D320G Missense 4/6 - 1
20-1616035-T-G c.959A>C p.D320A Missense 4/6 - 1
20-1616039-A-C c.955T>G p.S319A Missense 4/6 - 1
20-1616041-A-G c.953T>C p.I318T Missense 4/6 - 2
20-1616044-T-G c.950A>C p.N317T Missense 4/6 - 1
20-1616046-C-A c.948G>T p.V316= Synonymous 4/6 - 1
20-1616046-C-G c.948G>C p.V316= Synonymous 4/6 - 1
20-1616046-C-T c.948G>A p.V316= Synonymous 4/6 - 2
20-1616060-T-A c.934A>T p.S312C UnclassifiedSNV 4/6 - 2
20-1616064-C-T c.930G>A p.W310* Nonsense 4/6 - 2
20-1616065-C-T c.929G>A p.W310* Nonsense 4/6 - 3
20-1616066-A-G c.928T>C p.W310R Missense 4/6 - 1
20-1616066-A-T c.928T>A p.W310R Missense 4/6 - 2
20-1616067-G-C c.927C>G p.N309K Missense 4/6 - 1
20-1616067-G-T c.927C>A p.N309K Missense 4/6 - 2
20-1616074-G-A c.920C>T p.T307I Missense 4/6 - 3
20-1616074-G-C c.920C>G p.T307S Missense 4/6 - 1
20-1616075-T-A c.919A>T p.T307S Missense 4/6 - 1
20-1616081-C-A c.913G>T p.D305Y Missense 4/6 - 1
20-1616081-C-G c.913G>C p.D305H Missense 4/6 - 1
20-1616090-C-T c.904G>A p.E302K Missense 4/6 - 1
20-1616095-A-T c.899T>A p.L300H Missense 4/6 - 1
20-1616096-G-A c.898C>T p.L300F Missense 4/6 - 1
20-1616096-G-C c.898C>G p.L300V Missense 4/6 - 1
20-1616097-G-A c.897C>T p.T299= Synonymous 4/6 - 1
20-1616097-G-C c.897C>G p.T299= Synonymous 4/6 - 1
20-1616097-G-T c.897C>A p.T299= Synonymous 4/6 - 1
20-1616098-G-A c.896C>T p.T299I Missense 4/6 - 1
20-1616101-G-A c.893C>T p.S298L Missense 4/6 - 3
20-1616105-C-T c.889G>A p.A297T Missense 4/6 - 1
20-1616102-AGGCTGTTTCTCTCT-A c.878_891del p.Q293Lfs*23 Frameshift 4/6 - 1
20-1616113-C-T c.881G>A p.R294K Missense 4/6 - 4
20-1616120-A-G c.874T>C p.C292R Missense 4/6 - 1
20-1616121-C-G c.873G>C p.V291= Synonymous 4/6 - 1
20-1616121-C-T c.873G>A p.V291= Synonymous 4/6 - 2
20-1616123-C-T c.871G>A p.V291M Missense 4/6 - 3
20-1616124-G-A c.870C>T p.N290= Synonymous 4/6 - 1
20-1616128-C-T c.866G>A p.G289E Missense 4/6 - 1
20-1616129-C-T c.865G>A p.G289R Missense 4/6 - 4
20-1616133-C-T c.861G>A p.E287= Synonymous 4/6 - 2
20-1616135-C-A c.859G>T p.E287* Nonsense 4/6 - 3
20-1616135-C-T c.859G>A p.E287K Missense 4/6 - 2
20-1616136-C-A c.858G>T p.S286= Synonymous 4/6 - 2
20-1616136-C-G c.858G>C p.S286= Synonymous 4/6 - 2
20-1616136-C-T c.858G>A p.S286= Synonymous 4/6 - 2
20-1616137-G-A c.857C>T p.S286L Missense 4/6 - 32
20-1616137-G-C c.857C>G p.S286W Missense 4/6 - 3
20-1616150-G-C c.844C>G p.Q282E Missense 4/6 - 1
20-1616151-T-C c.843A>G p.L281= Synonymous 4/6 - 1
20-1616154-G-A c.840C>T p.S280= Synonymous 4/6 - 1
20-1616155-C-A c.839G>T p.S280I UnclassifiedSNV 4/6 - 2
20-1616160-G-A c.834C>T p.P278= Synonymous 4/6 - 2
20-1616161-G-A c.833C>T p.P278L Missense 4/6 - 5
20-1616168-A-C c.826T>G p.F276V UnclassifiedSNV 4/6 - 3
20-1616169-C-T c.825G>A p.K275= Synonymous 4/6 - 2
20-1616170-T-G c.824A>C p.K275T Missense 4/6 - 2
20-1616172-CCT-ATG c.820_822delinsCAT p.R274H Missense 4/6 - 1
20-1616172-C-T c.822G>A p.R274= Synonymous 4/6 - 3
20-1616175-C-T c.819G>A p.V273= Synonymous 4/6 - 1
20-1616176-A-C c.818T>G p.V273G Missense 4/6 - 1
20-1616178-C-T c.816G>A p.Q272= Synonymous 4/6 - 1
20-1616181-G-C c.813C>G p.C271W Missense 4/6 - 2
20-1616187-G-A c.807C>T p.V269= Synonymous 4/6 - 1
20-1616187-G-C c.807C>G p.V269= Synonymous 4/6 - 1
20-1616187-G-T c.807C>A p.V269= Synonymous 4/6 - 1
20-1616196-C-T c.798G>A p.Q266= Synonymous 4/6 - 1
20-1616198-G-A c.796C>T p.Q266* Nonsense 4/6 - 3
20-1616200-T-C c.794A>G p.N265S Missense 4/6 - 1
20-1616200-T-G c.794A>C p.N265T Missense 4/6 - 1
20-1616202-TCCCCACCCTCATGG-T c.779_792del p.P260Qfs*56 Frameshift 4/6 - 1
20-1616205-C-A c.789G>T p.V263= Synonymous 4/6 - 2
20-1616205-C-G c.789G>C p.V263= Synonymous 4/6 - 2
20-1616205-C-T c.789G>A p.V263= Synonymous 4/6 - 2
20-1616206-A-G c.788T>C p.V263A Missense 4/6 - 43
20-1616207-C-G c.787G>C p.V263L Missense 4/6 - 1
20-1616208-C-A c.786G>T p.R262S Missense 4/6 - 3
20-1616208-C-G c.786G>C p.R262S Missense 4/6 - 3
20-1616210-T-A c.784A>T p.R262W Missense 4/6 - 3
20-1616211-C-A c.783G>T p.M261I Missense 4/6 - 1
20-1616211-C-G c.783G>C p.M261I Missense 4/6 - 1
20-1616211-C-T c.783G>A p.M261I Missense 4/6 - 3
20-1616214-G-A c.780C>T p.P260= Synonymous 4/6 - 3
20-1616215-G-A c.779C>T p.P260L Missense 4/6 - 1
20-1616216-G-A c.778C>T p.P260S Missense 4/6 - 2
20-1616217-C-A c.777G>T p.Q259H Missense 4/6 - 1
20-1616217-C-T c.777G>A p.Q259= Synonymous 4/6 - 3
20-1616227-A-G c.767T>C p.V256A Missense 4/6 - 2
20-1616228-C-T c.766G>A p.V256I Missense 4/6 - 1
20-1616229-C-A c.765G>T p.E255D Missense 4/6 - 1
20-1616229-C-G c.765G>C p.E255D Missense 4/6 - 1
20-1616236-G-C c.758C>G p.T253S Missense 4/6 - 2
20-1616237-T-A c.757A>T p.T253S Missense 4/6 - 2
20-1616238-G-A c.756C>T p.P252= Synonymous 4/6 - 1
20-1616238-G-C c.756C>G p.P252= Synonymous 4/6 - 1
20-1616238-G-T c.756C>A p.P252= Synonymous 4/6 - 1
20-1616239-G-A c.755C>T p.P252L Missense 4/6 - 4
20-1616239-G-T c.755C>A p.P252H Missense 4/6 - 1
20-1616243-G-A c.751C>T p.P251S Missense 4/6 - 1
20-1616568-C-A c.748+266G>T - IntronicSNV - 3/5 1
20-1616817-G-A c.748+17C>T - IntronicSNV - 3/5 1
20-1616816-GGT-G c.748+16_748+17del - IntronicDeletion - 3/5 1
20-1616832-A-T c.748+2T>A - IntronicSNV - 3/5 1
20-1616835-TCG-ACA c.745_747delinsTGT p.R249C Missense 3/6 - 1
20-1616836-C-T c.746G>A p.R249Q Missense 3/6 - 8
20-1616837-G-A c.745C>T p.R249* Nonsense 3/6 - 3
20-1616841-G-A c.741C>T p.A247= Synonymous 3/6 - 3
20-1616842-G-A c.740C>T p.A247V Missense 3/6 - 1
20-1616844-C-A c.738G>T p.E246D Missense 3/6 - 1
20-1616844-C-G c.738G>C p.E246D Missense 3/6 - 1
20-1616848-G-A c.734C>T p.S245F Missense 3/6 - 4
20-1616850-C-G c.732G>C p.L244F Missense 3/6 - 1
20-1616851-A-T c.731T>A p.L244* Nonsense 3/6 - 1
20-1616854-T-C c.728A>G p.N243S Missense 3/6 - 2
20-1616857-G-C c.725C>G p.A242G Missense 3/6 - 3
20-1616859-A-T c.723T>A p.T241= Synonymous 3/6 - 1
20-1616862-C-T c.720G>A p.G240= Synonymous 3/6 - 1
20-1616863-C-T c.719G>A p.G240E Missense 3/6 - 1
20-1616866-C-T c.716G>A p.R239H Missense 3/6 - 2
20-1616867-G-A c.715C>T p.R239C Missense 3/6 - 14
20-1616867-G-T c.715C>A p.R239S Missense 3/6 - 1
20-1616871-A-C c.711T>G p.P237= Synonymous 3/6 - 1
20-1616871-A-G c.711T>C p.P237= Synonymous 3/6 - 1
20-1616871-A-T c.711T>A p.P237= Synonymous 3/6 - 1
20-1616872-G-C c.710C>G p.P237R Missense 3/6 - 2
20-1616874-G-A c.708C>T p.D236= Synonymous 3/6 - 1
20-1616877-CC-GT c.704_705delinsAC p.G235D Missense 3/6 - 1
20-1616878-C-T c.704G>A p.G235E Missense 3/6 - 6
20-1616879-C-A c.703G>T p.G235W Missense 3/6 - 1
20-1616881-T-A c.701A>T p.Q234L Missense 3/6 - 1
20-1616881-T-C c.701A>G p.Q234R Missense 3/6 - 1
20-1616882-G-T c.700C>A p.Q234K Missense 3/6 - 1
20-1616884-A-G c.698T>C p.L233S Missense 3/6 - 1
20-1616886-G-T c.696C>A p.T232= Synonymous 3/6 - 1
20-1616888-T-G c.694A>C p.T232P Missense 3/6 - 1
20-1616891-C-T c.691G>A p.V231I Missense 3/6 - 2
20-1616892-A-G c.690T>C p.H230= Synonymous 3/6 - 17
20-1616893-T-A c.689A>T p.H230L Missense 3/6 - 2
20-1616894-G-A c.688C>T p.H230Y Missense 3/6 - 1
20-1616895-G-A c.687C>T p.A229= Synonymous 3/6 - 4
20-1616895-G-C c.687C>G p.A229= Synonymous 3/6 - 2
20-1616895-G-T c.687C>A p.A229= Synonymous 3/6 - 2
20-1616901-C-T c.681G>A p.E227= Synonymous 3/6 - 1
20-1616903-C-T c.679G>A p.E227K Missense 3/6 - 3
20-1616904-G-A c.678C>T p.C226= Synonymous 3/6 - 2
20-1616904-G-C c.678C>G p.C226W Missense 3/6 - 1
20-1616904-G-T c.678C>A p.C226* Nonsense 3/6 - 1
20-1616905-C-T c.677G>A p.C226Y Missense 3/6 - 1
20-1616907-G-C c.675C>G p.I225M Missense 3/6 - 1
20-1616910-G-A c.672C>T p.V224= Synonymous 3/6 - 2
20-1616913-C-A c.669G>T p.Q223H Missense 3/6 - 1
20-1616913-C-G c.669G>C p.Q223H Missense 3/6 - 2
20-1616915-G-T c.667C>A p.Q223K Missense 3/6 - 1
20-1616917-G-A c.665C>T p.S222F Missense 3/6 - 7
20-1616917-G-C c.665C>G p.S222C Missense 3/6 - 1
20-1616919-G-C c.663C>G p.R221= Synonymous 3/6 - 1
20-1616920-C-T c.662G>A p.R221H Missense 3/6 - 3
20-1616921-G-A c.661C>T p.R221C Missense 3/6 - 2
20-1616925-G-A c.657C>T p.D219= Synonymous 3/6 - 2
20-1616927-C-T c.655G>A p.D219N Missense 3/6 - 4
20-1616933-G-A c.649C>T p.P217S Missense 3/6 - 1
20-1616934-G-A c.648C>T p.D216= Synonymous 3/6 - 3
20-1616936-C-T c.646G>A p.D216N Missense 3/6 - 1
20-1616943-C-A c.639G>T p.V213= Synonymous 3/6 - 1
20-1616943-CAC-GAT c.637_639delinsATC p.V213I Missense 3/6 - 2
20-1616943-C-G c.639G>C p.V213= Synonymous 3/6 - 1
20-1616943-C-T c.639G>A p.V213= Synonymous 3/6 - 1
20-1616944-A-C c.638T>G p.V213G Missense 3/6 - 1
20-1616946-C-T c.636G>A p.R212= Synonymous 3/6 - 1
20-1616951-C-A c.631G>T p.A211S Missense 3/6 - 1
20-1616958-GC-TT c.623_624delinsAA p.R208Q Missense 3/6 - 2
20-1616959-C-T c.623G>A p.R208H Missense 3/6 - 1
20-1616960-G-A c.622C>T p.R208C Missense 3/6 - 7
20-1616963-T-C c.619A>G p.I207V Missense 3/6 - 1
20-1616967-G-C c.615C>G p.Y205* Nonsense 3/6 - 3
20-1616967-G-T c.615C>A p.Y205* Nonsense 3/6 - 5
20-1616970-G-T c.612C>A p.A204= Synonymous 3/6 - 1
20-1616971-G-A c.611C>T p.A204V Missense 3/6 - 2
20-1616973-C-A c.609G>T p.V203= Synonymous 3/6 - 2
20-1616976-A-G c.606T>C p.S202= Synonymous 3/6 - 1
20-1616977-CT-AA c.604_605delinsTT p.S202F Missense 3/6 - 1
20-1616978-T-C c.604A>G p.S202G Missense 3/6 - 1
20-1616979-C-G c.603G>C p.Q201H Missense 3/6 - 1
20-1616979-C-T c.603G>A p.Q201= Synonymous 3/6 - 1
20-1616984-C-T c.598G>A p.G200R Missense 3/6 - 2
20-1616989-G-T c.593C>A p.P198H Missense 3/6 - 1
20-1616991-G-A c.591C>T p.D197= Synonymous 3/6 - 1
20-1616996-C-A c.586G>T p.V196L Missense 3/6 - 1
20-1616996-C-G c.586G>C p.V196L Missense 3/6 - 1
20-1616997-G-A c.585C>T p.N195= Synonymous 3/6 - 1
20-1617002-T-C c.580A>G p.T194A Missense 3/6 - 1
20-1617003-C-A c.579G>T p.Q193H Missense 3/6 - 4
20-1617003-C-G c.579G>C p.Q193H Missense 3/6 - 4
20-1617013-G-C c.569C>G p.S190* Nonsense 3/6 - 1
20-1617018-C-A c.564G>T p.E188D Missense 3/6 - 2
20-1617018-C-G c.564G>C p.E188D Missense 3/6 - 3
20-1617020-C-G c.562G>C p.E188Q Missense 3/6 - 1
20-1617021-A-G c.561T>C p.N187= Synonymous 3/6 - 1
20-1617024-C-A c.558G>T p.G186= Synonymous 3/6 - 3
20-1617024-C-T c.558G>A p.G186= Synonymous 3/6 - 3
20-1617025-CC-TT c.556_557delinsAA p.G186K Missense 3/6 - 1
20-1617025-C-T c.557G>A p.G186E Missense 3/6 - 6
20-1617026-C-A c.556G>T p.G186W Missense 3/6 - 1
20-1617026-C-G c.556G>C p.G186R Missense 3/6 - 1
20-1617026-C-T c.556G>A p.G186R Missense 3/6 - 3
20-1617037-C-A c.545G>T p.W182L Missense 3/6 - 1
20-1617037-C-T c.545G>A p.W182* Nonsense 3/6 - 2
20-1617038-A-G c.544T>C p.W182R Missense 3/6 - 6
20-1617038-A-T c.544T>A p.W182R Missense 3/6 - 2
20-1617042-C-A c.540G>T p.L180= Synonymous 3/6 - 1
20-1617042-C-G c.540G>C p.L180= Synonymous 3/6 - 1
20-1617042-C-T c.540G>A p.L180= Synonymous 3/6 - 3
20-1617044-G-A c.538C>T p.L180= Synonymous 3/6 - 2
20-1617046-G-A c.536C>T p.T179I Missense 3/6 - 1
20-1617046-G-T c.536C>A p.T179N Missense 3/6 - 1
20-1617051-G-A c.531C>T p.D177= Synonymous 3/6 - 1
20-1617055-C-T c.527G>A p.R176K Missense 3/6 - 5
20-1617057-G-A c.525C>T p.P175= Synonymous 3/6 - 1
20-1617058-G-A c.524C>T p.P175L Missense 3/6 - 4
20-1617058-G-T c.524C>A p.P175H Missense 3/6 - 2
20-1617059-G-A c.523C>T p.P175S Missense 3/6 - 1
20-1617061-G-T c.521C>A p.S174Y Missense 3/6 - 1
20-1617062-A-T c.520T>A p.S174T Missense 3/6 - 1
20-1617063-G-T c.519C>A p.F173L Missense 3/6 - 2
20-1617064-A-G c.518T>C p.F173S Missense 3/6 - 1
20-1617063-G-C c.519C>G p.F173L Missense 3/6 - 1
20-1617065-A-G c.517T>C p.F173L Missense 3/6 - 1
20-1617068-C-T c.514G>A p.G172S Missense 3/6 - 1
20-1617069-A-G c.513T>C p.H171= Synonymous 3/6 - 17
20-1617069-A-T c.513T>A p.H171Q Missense 3/6 - 3
20-1617072-G-A c.510C>T p.S170= Synonymous 3/6 - 2
20-1617072-G-C c.510C>G p.S170= Synonymous 3/6 - 1
20-1617072-G-T c.510C>A p.S170= Synonymous 3/6 - 1
20-1617077-C-T c.505G>A p.E169K Missense 3/6 - 3
20-1617081-G-A c.501C>T p.T167= Synonymous 3/6 - 1
20-1617081-G-T c.501C>A p.T167= Synonymous 3/6 - 2
20-1617082-G-A c.500C>T p.T167I Missense 3/6 - 2
20-1617082-G-T c.500C>A p.T167N Missense 3/6 - 3
20-1617084-G-A c.498C>T p.F166= Synonymous 3/6 - 1
20-1617089-T-A c.493A>T p.S165C Missense 3/6 - 1
20-1617092-C-T c.490G>A p.V164M Missense 3/6 - 1
20-1617094-G-C c.488C>G p.T163R Missense 3/6 - 1
20-1617098-G-A c.484C>T p.H162Y Missense 3/6 - 1
20-1617101-C-G c.481G>C p.E161Q Missense 3/6 - 1
20-1617103-G-T c.479C>A p.P160H Missense 3/6 - 4
20-1617104-G-A c.478C>T p.P160S Missense 3/6 - 3
20-1617104-G-T c.478C>A p.P160T Missense 3/6 - 4
20-1617111-C-A c.471G>T p.R157S Missense 3/6 - 1
20-1617112-C-T c.470G>A p.R157K Missense 3/6 - 1
20-1617115-G-A c.467C>T p.A156V Missense 3/6 - 1
20-1617118-G-A c.464C>T p.A155V Missense 3/6 - 1
20-1617118-G-C c.464C>G p.A155G Missense 3/6 - 2
20-1617118-G-T c.464C>A p.A155E Missense 3/6 - 1
20-1617119-C-T c.463G>A p.A155T Missense 3/6 - 1
20-1617124-C-A c.458G>T p.G153V Missense 3/6 - 1
20-1617131-C-A c.451G>T p.V151L Missense 3/6 - 2
20-1617131-C-G c.451G>C p.V151L Missense 3/6 - 1
20-1617132-C-A c.450G>T p.V150= Synonymous 3/6 - 2
20-1617132-C-G c.450G>C p.V150= Synonymous 3/6 - 2
20-1617132-C-T c.450G>A p.V150= Synonymous 3/6 - 3
20-1617134-AC-A c.448del p.V150Wfs*15 Frameshift 3/6 - 2
20-1617134-ACGG-A c.446_448del p.P149_V150delinsL MultiAAMissense 3/6 - 1
20-1617134-C-T c.448G>A p.V150M Missense 3/6 - 7
20-1617136-G-A c.446C>T p.P149L Missense 3/6 - 1
20-1617137-G-A c.445C>T p.P149S Missense 3/6 - 2
20-1617134-CG-C c.447del p.V150Wfs*15 Frameshift 3/6 - 2
20-1617139-G-A c.443C>T p.A148V Missense 3/6 - 1
20-1617139-G-T c.443C>A p.A148D Missense 3/6 - 2
20-1617142-G-A c.440C>T p.S147F Missense 3/6 - 1
20-1617163-G-A c.431-12C>T - IntronicSNV - 2/5 2
20-1617163-G-T c.431-12C>A - IntronicSNV - 2/5 2
20-1625156-T-A c.430+4542A>T - IntronicSNV - 2/5 1
20-1627079-C-T c.430+2619G>A - IntronicSNV - 2/5 1
20-1627323-T-A c.430+2375A>T - IntronicSNV - 2/5 1
20-1627323-T-C c.430+2375A>G - IntronicSNV - 2/5 1
20-1629547-T-C c.430+151A>G - IntronicSNV - 2/5 6
20-1629604-A-C c.430+94T>G - IntronicSNV - 2/5 7
20-1629604-A-T c.430+94T>A - IntronicSNV - 2/5 4
20-1629606-A-G c.430+92T>C - IntronicSNV - 2/5 9
20-1629701-C-A c.427G>T p.G143C Missense 2/6 - 1
20-1629706-G-A c.422C>T p.A141V Missense 2/6 - 2
20-1629708-C-A c.420G>T p.M140I Missense 2/6 - 4
20-1629708-C-G c.420G>C p.M140I Missense 2/6 - 2
20-1629708-C-T c.420G>A p.M140I Missense 2/6 - 2
20-1629712-T-C c.416A>G p.E139G Missense 2/6 - 1
20-1629713-C-T c.415G>A p.E139K Missense 2/6 - 2
20-1629715-G-T c.413C>A p.T138N Missense 2/6 - 1
20-1629727-G-A c.401C>T p.S134F Missense 2/6 - 1
20-1629727-G-T c.401C>A p.S134Y Missense 2/6 - 1
20-1629729-C-A c.399G>T p.K133N Missense 2/6 - 3
20-1629729-C-G c.399G>C p.K133N Missense 2/6 - 2
20-1629737-C-T c.391G>A p.E131K Missense 2/6 - 2
20-1629738-C-T c.390G>A p.V130= Synonymous 2/6 - 2
20-1629740-C-T c.388G>A p.V130M Missense 2/6 - 2
20-1629741-G-A c.387C>T p.N129= Synonymous 2/6 - 3
20-1629741-G-C c.387C>G p.N129K Missense 2/6 - 1
20-1629744-C-T c.384G>A p.E128= Synonymous 2/6 - 1
20-1629746-C-T c.382G>A p.E128K Missense 2/6 - 1
20-1629747-A-AG c.380dup p.E128* Nonsense 2/6 - 1
20-1629752-T-C c.376A>G p.S126G Missense 2/6 - 1
20-1629753-C-A c.375G>T p.G125= Synonymous 2/6 - 1
20-1629753-C-G c.375G>C p.G125= Synonymous 2/6 - 1
20-1629753-C-T c.375G>A p.G125= Synonymous 2/6 - 1
20-1629760-C-T c.368G>A p.R123Q Missense 2/6 - 5
20-1629759-T-A c.369A>T p.R123= Synonymous 2/6 - 1
20-1629759-T-C c.369A>G p.R123= Synonymous 2/6 - 1
20-1629759-T-G c.369A>C p.R123= Synonymous 2/6 - 1
20-1629761-G-A c.367C>T p.R123* Nonsense 2/6 - 4
20-1629761-G-T c.367C>A p.R123= Synonymous 2/6 - 1
20-1629768-C-T c.360G>A p.V120= Synonymous 2/6 - 2
20-1629769-A-C c.359T>G p.V120G Missense 2/6 - 1
20-1629770-C-T c.358G>A p.V120M Missense 2/6 - 1
20-1629772-C-T c.356G>A p.C119Y Missense 2/6 - 1
20-1629776-A-G c.352T>C p.Y118H Missense 2/6 - 1
20-1629777-G-A c.351C>T p.Y117= Synonymous 2/6 - 1
20-1629785-C-T c.343G>A p.G115S Missense 2/6 - 1
20-1629786-G-A c.342C>T p.V114= Synonymous 2/6 - 2
20-1629786-G-C c.342C>G p.V114= Synonymous 2/6 - 1
20-1629786-G-T c.342C>A p.V114= Synonymous 2/6 - 1
20-1629788-C-G c.340G>C p.V114L Missense 2/6 - 4
20-1629793-G-A c.335C>T p.A112V Missense 2/6 - 1
20-1629795-T-A c.333A>T p.P111= Synonymous 2/6 - 1
20-1629795-T-C c.333A>G p.P111= Synonymous 2/6 - 1
20-1629795-T-G c.333A>C p.P111= Synonymous 2/6 - 1
20-1629796-G-T c.332C>A p.P111Q Missense 2/6 - 1
20-1629797-G-T c.331C>A p.P111T Missense 2/6 - 2
20-1629800-T-G c.328A>C p.T110P Missense 2/6 - 3
20-1629803-T-C c.325A>G p.I109V Missense 2/6 - 1
20-1629804-G-A c.324C>T p.S108= Synonymous 2/6 - 1
20-1629805-C-G c.323G>C p.S108T Missense 2/6 - 2
20-1629810-G-A c.318C>T p.I106= Synonymous 2/6 - 3
20-1629810-G-C c.318C>G p.I106M Missense 2/6 - 3
20-1629811-A-G c.317T>C p.I106T Missense 2/6 - 1
20-1629814-C-T c.314G>A p.R105H Missense 2/6 - 4
20-1629815-G-A c.313C>T p.R105C Missense 2/6 - 3
20-1629815-G-T c.313C>A p.R105S Missense 2/6 - 1
20-1629819-G-A c.309C>T p.S103= Synonymous 2/6 - 4
20-1629820-G-A c.308C>T p.S103F Missense 2/6 - 4
20-1629827-C-A c.301G>T p.D101Y Missense 2/6 - 3
20-1629827-C-T c.301G>A p.D101N Missense 2/6 - 1
20-1629828-C-A c.300G>T p.M100I Missense 2/6 - 1
20-1629828-C-G c.300G>C p.M100I Missense 2/6 - 1
20-1629828-C-T c.300G>A p.M100I Missense 2/6 - 1
20-1629832-T-A c.296A>T p.N99I Missense 2/6 - 2
20-1629838-C-T c.290G>A p.R97K Missense 2/6 - 1
20-1629840-C-G c.288G>C p.K96N Missense 2/6 - 4
20-1629840-C-T c.288G>A p.K96= Synonymous 2/6 - 2
20-1629851-C-T c.277G>A p.D93N Missense 2/6 - 2
20-1629862-G-A c.266C>T p.T89I Missense 2/6 - 1
20-1629866-C-A c.262G>T p.V88L Missense 2/6 - 1
20-1629866-C-T c.262G>A p.V88I Missense 2/6 - 3
20-1629868-C-T c.260G>A p.R87K Missense 2/6 - 3
20-1629870-G-A c.258C>T p.P86= Synonymous 2/6 - 3
20-1629870-G-C c.258C>G p.P86= Synonymous 2/6 - 3
20-1629870-G-T c.258C>A p.P86= Synonymous 2/6 - 3
20-1629872-G-A c.256C>T p.P86S Missense 2/6 - 7
20-1629873-G-A c.255C>T p.F85= Synonymous 2/6 - 4
20-1629885-T-A c.243A>T p.K81N Missense 2/6 - 1
20-1629885-T-G c.243A>C p.K81N Missense 2/6 - 2
20-1629888-T-G c.240A>C p.Q80H Missense 2/6 - 1
20-1629890-G-T c.238C>A p.Q80K Missense 2/6 - 1
20-1629897-G-A c.231C>T p.I77= Synonymous 2/6 - 1
20-1629897-G-C c.231C>G p.I77M Missense 2/6 - 1
20-1629897-G-T c.231C>A p.I77= Synonymous 2/6 - 1
20-1629899-T-A c.229A>T p.I77F Missense 2/6 - 3
20-1629905-C-A c.223G>T p.E75* Nonsense 2/6 - 2
20-1629905-C-G c.223G>C p.E75Q Missense 2/6 - 3
20-1629906-C-T c.222G>A p.R74= Synonymous 2/6 - 18
20-1629907-C-T c.221G>A p.R74Q Missense 2/6 - 3
20-1629906-C-A c.222G>T p.R74= Synonymous 2/6 - 1
20-1629906-C-G c.222G>C p.R74= Synonymous 2/6 - 1
20-1629908-G-T c.220C>A p.R74= Synonymous 2/6 - 1
20-1629909-G-C c.219C>G p.G73= Synonymous 2/6 - 1
20-1629910-C-T c.218G>A p.G73D Missense 2/6 - 1
20-1629911-C-A c.217G>T p.G73C Missense 2/6 - 1
20-1629914-G-T c.214C>A p.P72T Missense 2/6 - 2
20-1629916-C-T c.212G>A p.G71E Missense 2/6 - 4
20-1629916-TCC-T c.211_212del p.G71Tfs*37 Frameshift 2/6 - 1
20-1629920-C-T c.208G>A p.V70I Missense 2/6 - 1
20-1629922-C-G c.206G>C p.G69A Missense 2/6 - 1
20-1629923-C-A c.205G>T p.G69* Nonsense 2/6 - 1
20-1629923-C-G c.205G>C p.G69R Missense 2/6 - 1
20-1629923-C-T c.205G>A p.G69R Missense 2/6 - 1
20-1629924-TCT-CCA c.202_204delinsTGG p.R68W Missense 2/6 - 1
20-1629927-G-C c.201C>G p.F67L Missense 2/6 - 1
20-1629927-G-T c.201C>A p.F67L Missense 2/6 - 1
20-1629929-A-G c.199T>C p.F67L Missense 2/6 - 1
20-1629930-C-T c.198G>A p.W66* Nonsense 2/6 - 9
20-1629931-C-A c.197G>T p.W66L Missense 2/6 - 4
20-1629931-C-T c.197G>A p.W66* Nonsense 2/6 - 3
20-1629935-G-A c.193C>T p.L65= Synonymous 2/6 - 3
20-1629938-C-T c.190G>A p.V64I Missense 2/6 - 1
20-1629943-C-A c.185G>T p.G62V Missense 2/6 - 1
20-1629944-C-T c.184G>A p.G62R Missense 2/6 - 1
20-1629948-G-A c.180C>T p.P60= Synonymous 2/6 - 2
20-1629948-G-C c.180C>G p.P60= Synonymous 2/6 - 1
20-1629949-G-C c.179C>G p.P60R Missense 2/6 - 1
20-1629950-G-A c.178C>T p.P60S Missense 2/6 - 2
20-1629958-G-A c.170C>T p.S57F Missense 2/6 - 5
20-1629960-G-A c.168C>T p.T56= Synonymous 2/6 - 2
20-1629960-G-C c.168C>G p.T56= Synonymous 2/6 - 1
20-1629960-G-T c.168C>A p.T56= Synonymous 2/6 - 1
20-1629963-CAC-GAT c.163_165delinsATC p.V55I Missense 2/6 - 1
20-1629967-G-A c.161C>T p.T54I Missense 2/6 - 6
20-1629973-T-C c.155A>G p.H52R Missense 2/6 - 1
20-1629975-C-A c.153G>T p.L51= Synonymous 2/6 - 2
20-1629979-G-A c.149C>T p.T50I Missense 2/6 - 2
20-1629979-G-C c.149C>G p.T50S Missense 2/6 - 1
20-1629980-T-A c.148A>T p.T50S Missense 2/6 - 1
20-1629982-G-C c.146C>G p.A49G Missense 2/6 - 2
20-1629982-GC-AT c.145_146delinsAT p.A49I Missense 2/6 - 1
20-1629982-GC-TG c.145_146delinsCA p.A49H Missense 2/6 - 1
20-1629983-C-T c.145G>A p.A49T Missense 2/6 - 1
20-1629984-T-G c.144A>C p.T48= Synonymous 2/6 - 1
20-1629985-G-GT c.142dup p.T48Nfs*61 Frameshift 2/6 - 1
20-1629987-C-A c.141G>T p.K47N Missense 2/6 - 1
20-1629988-T-C c.140A>G p.K47R Missense 2/6 - 1
20-1629991-CC-TT c.136_137delinsAA p.G46K Missense 2/6 - 1
20-1629991-C-T c.137G>A p.G46E Missense 2/6 - 6
20-1629992-C-G c.136G>C p.G46R Missense 2/6 - 2
20-1629992-C-T c.136G>A p.G46R Missense 2/6 - 4
20-1629995-C-T c.133G>A p.V45I Missense 2/6 - 1
20-1630001-C-A c.127G>T p.V43F Missense 2/6 - 1
20-1630007-G-A c.121C>T p.L41= Synonymous 2/6 - 3
20-1630010-G-T c.118C>A p.L40I Missense 2/6 - 1
20-1630016-C-T c.112G>A p.E38K Missense 2/6 - 1
20-1630020-C-T c.108G>A p.Q36= Synonymous 2/6 - 1
20-1630022-G-A c.106C>T p.Q36* Nonsense 2/6 - 3
20-1630026-C-T c.102G>A p.M34I Missense 2/6 - 1
20-1630029-C-T c.99G>A p.Q33= Synonymous 2/6 - 1
20-1630030-T-C c.98A>G p.Q33R Missense 2/6 - 1
20-1630034-G-A c.94C>T p.L32= Synonymous 2/6 - 1
20-1630034-G-C c.94C>G p.L32V Missense 2/6 - 2
20-1630035-C-T c.93G>A p.E31= Synonymous 2/6 - 5
20-1630036-T-C c.92A>G p.E31G Missense 2/6 - 1
20-1630037-C-T c.91G>A p.E31K Missense 2/6 - 1
20-1630038-C-T c.90G>A p.E30= Synonymous 2/6 - 1
20-1630040-C-G c.88G>C p.E30Q Missense 2/6 - 2
20-1630044-A-C c.84T>G p.G28= Synonymous 2/6 - 1
20-1630044-A-G c.84T>C p.G28= Synonymous 2/6 - 1
20-1630044-A-T c.84T>A p.G28= Synonymous 2/6 - 1
20-1630045-C-T c.83G>A p.G28D Missense 2/6 - 1
20-1630047-TGC-ATG c.79_81delinsCAT p.A27H Missense 2/6 - 1
20-1630048-G-C c.80C>G p.A27G Missense 2/6 - 1
20-1630049-C-T c.79G>A p.A27T Missense 2/6 - 1
20-1630050-CAC-GAT c.76_78delinsATC p.V26I Missense 2/6 - 1
20-1630051-A-G c.77T>C p.V26A Missense 2/6 - 1
20-1631941-G-C c.74-1887C>G - IntronicSNV - 1/5 1
20-1636893-C-T c.73+1395G>A - IntronicSNV - 1/5 1
20-1638187-C-T c.73+101G>A - IntronicSNV - 1/5 1
20-1638231-G-A c.73+57C>T - IntronicSNV - 1/5 3
20-1638293-AG-GC c.67_68delinsGC p.L23A Missense 1/6 - 1
20-1638293-A-T c.68T>A p.L23H Missense 1/6 - 9
20-1638294-G-A c.67C>T p.L23F Missense 1/6 - 1
20-1638296-C-T c.65G>A p.G22E Missense 1/6 - 1
20-1638297-C-A c.64G>T p.G22* Nonsense 1/6 - 2
20-1638297-C-G c.64G>C p.G22R Missense 1/6 - 1
20-1638297-C-T c.64G>A p.G22R Missense 1/6 - 3
20-1638301-C-A c.60G>T p.L20= Synonymous 1/6 - 1
20-1638301-C-G c.60G>C p.L20= Synonymous 1/6 - 1
20-1638301-C-T c.60G>A p.L20= Synonymous 1/6 - 1
20-1638303-G-A c.58C>T p.L20= Synonymous 1/6 - 1
20-1638304-T-A c.57A>T p.L19= Synonymous 1/6 - 1
20-1638306-G-T c.55C>A p.L19I Missense 1/6 - 1
20-1638308-G-A c.53C>T p.T18I Missense 1/6 - 1
20-1638318-G-A c.43C>T p.L15= Synonymous 1/6 - 1
20-1638319-G-A c.42C>T p.F14= Synonymous 1/6 - 3
20-1638323-G-A c.38C>T p.P13L Missense 1/6 - 3
20-1638323-G-C c.38C>G p.P13R Missense 1/6 - 1
20-1638326-C-T c.35G>A p.G12D Missense 1/6 - 1
20-1638327-C-T c.34G>A p.G12S Missense 1/6 - 2
20-1638330-G-A c.31C>T p.P11S Missense 1/6 - 7
20-1638330-G-T c.31C>A p.P11T Missense 1/6 - 1
20-1638332-G-A c.29C>T p.P10L Missense 1/6 - 2
20-1638332-G-T c.29C>A p.P10H Missense 1/6 - 4
20-1638333-G-A c.28C>T p.P10S Missense 1/6 - 2
20-1638333-G-T c.28C>A p.P10T Missense 1/6 - 1
20-1638334-A-C c.27T>G p.H9Q Missense 1/6 - 1
20-1638334-A-G c.27T>C p.H9= Synonymous 1/6 - 1
20-1638334-A-T c.27T>A p.H9Q Missense 1/6 - 3
20-1638336-G-A c.25C>T p.H9Y Missense 1/6 - 5
20-1638336-G-T c.25C>A p.H9N Missense 1/6 - 1
20-1638337-G-A c.24C>T p.P8= Synonymous 1/6 - 2
20-1638338-G-T c.23C>A p.P8H Missense 1/6 - 2
20-1638334-ATGGGGCCAGGAGGC-A c.13_26del p.A5Sfs*20 Frameshift 1/6 - 1
20-1638344-G-A c.17C>T p.S6F Missense 1/6 - 2
20-1638346-G-A c.15C>T p.A5= Synonymous 1/6 - 3
20-1638351-G-T c.10C>A p.P4T Missense 1/6 - 1
20-1638354-C-A c.7G>T p.V3F Missense 1/6 - 2
20-1638357-G-A c.4C>T p.P2S Missense 1/6 - 1