GOSR2

GOSR2 golgi SNAP receptor complex member 2

Annotation transcript: NM_004287.5

304 unique variant annotations were identified in 368 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
17-45000529-G-A c.-30G>A - 5-UTRSNV 1/6 - 20
17-45000529-G-C c.-30G>C - 5-UTRSNV 1/6 - 20
17-45000529-G-T c.-30G>T - 5-UTRSNV 1/6 - 20
17-45000543-C-A c.-16C>A - 5-UTRSNV 1/6 - 1
17-45000543-C-G c.-16C>G - 5-UTRSNV 1/6 - 1
17-45000543-C-T c.-16C>T - 5-UTRSNV 1/6 - 1
17-45000547-G-A c.-12G>A - 5-UTRSNV 1/6 - 20
17-45000547-G-C c.-12G>C - 5-UTRSNV 1/6 - 20
17-45000547-G-T c.-12G>T - 5-UTRSNV 1/6 - 20
17-45000560-T-G c.2T>G p.M1? Missense 1/6 - 1
17-45000564-T-A c.6T>A p.D2E Missense 1/6 - 1
17-45000564-T-C c.6T>C p.D2= Synonymous 1/6 - 1
17-45000565-C-A c.7C>A p.P3T Missense 1/6 - 6
17-45000565-C-G c.7C>G p.P3A Missense 1/6 - 2
17-45000565-C-T c.7C>T p.P3S Missense 1/6 - 2
17-45000568-C-G c.10C>G p.L4V Missense 1/6 - 1
17-45000568-C-T c.10C>T p.L4= Synonymous 1/6 - 1
17-45000570-G-A c.12G>A p.L4= Synonymous 1/6 - 1
17-45000570-G-C c.12G>C p.L4= Synonymous 1/6 - 1
17-45000570-G-T c.12G>T p.L4= Synonymous 1/6 - 1
17-45000575-A-G c.17A>G p.Q6R Missense 1/6 - 1
17-45000577-C-CA c.22dup p.T8Nfs*54 Frameshift 1/6 - 2
17-45000580-A-G c.22A>G p.T8A Missense 1/6 - 1
17-45000583-C-T c.25C>T p.H9Y Missense 1/6 - 1
17-45000588-G-A c.29+1G>A - IntronicSNV - 1/5 1
17-45000616-G-T c.29+29G>T - IntronicSNV - 1/5 1
17-45000736-C-T c.29+149C>T - IntronicSNV - 1/5 2
17-45000997-G-A c.29+410G>A - IntronicSNV - 1/5 1
17-45000997-G-T c.29+410G>T - IntronicSNV - 1/5 1
17-45003829-G-A c.30-3057G>A - IntronicSNV - 1/5 1
17-45005703-C-T c.30-1183C>T - IntronicSNV - 1/5 2
17-45005830-G-A c.30-1056G>A - IntronicSNV - 1/5 4
17-45006112-C-G c.30-774C>G - IntronicSNV - 1/5 1
17-45006887-C-T c.31C>T p.Q11* Nonsense 2/6 - 1
17-45006890-G-A c.34G>A p.V12I Missense 2/6 - 1
17-45006890-G-T c.34G>T p.V12F Missense 2/6 - 1
17-45006896-G-A c.40G>A p.E14K Missense 2/6 - 3
17-45006903-A-C c.47A>C p.Q16P Missense 2/6 - 2
17-45006907-T-C c.51T>C p.S17= Synonymous 2/6 - 1
17-45006911-A-G c.55A>G p.M19V Missense 2/6 - 1
17-45006913-G-A c.57G>A p.M19I Missense 2/6 - 2
17-45006914-GG-AT c.58_59delinsAT p.G20I Missense 2/6 - 1
17-45006914-GGA-TGT c.58_60delinsTGT p.G20C Missense 2/6 - 1
17-45006914-GG-CC c.58_59inv p.G20P Missense 2/6 - 1
17-45006917-C-T c.61C>T p.R21C Missense 2/6 - 1
17-45006918-G-A c.62G>A p.R21H Missense 2/6 - 1
17-45006920-C-T c.64C>T p.L22= Synonymous 2/6 - 1
17-45006922-G-A c.66G>A p.L22= Synonymous 2/6 - 1
17-45006922-G-C c.66G>C p.L22= Synonymous 2/6 - 1
17-45006922-G-T c.66G>T p.L22= Synonymous 2/6 - 1
17-45006924-A-G c.68A>G p.E23G Missense 2/6 - 1
17-45006927-C-A c.71C>A p.T24K Missense 2/6 - 1
17-45006927-C-G c.71C>G p.T24R Missense 2/6 - 1
17-45006927-C-T c.71C>T p.T24M Missense 2/6 - 2
17-45006930-CA-AC c.74_75delinsAC p.A25D Missense 2/6 - 1
17-45006933-A-G c.77A>G p.D26G Missense 2/6 - 1
17-45006934-C-A c.78C>A p.D26E Missense 2/6 - 1
17-45006934-C-G c.78C>G p.D26E Missense 2/6 - 1
17-45006935-A-C c.79A>C p.K27Q Missense 2/6 - 3
17-45006935-A-G c.79A>G p.K27E Missense 2/6 - 1
17-45006936-A-T c.80A>T p.K27M Missense 2/6 - 1
17-45006937-G-A c.81G>A p.K27= Synonymous 2/6 - 1
17-45006938-C-T c.82C>T p.Q28* Nonsense 2/6 - 1
17-45007026-C-T c.94+76C>T - IntronicSNV - 2/5 1
17-45007048-T-C c.94+98T>C - IntronicSNV - 2/5 1
17-45007140-A-C c.94+190A>C - IntronicSNV - 2/5 1
17-45007161-C-T c.94+211C>T - IntronicSNV - 2/5 1
17-45007213-A-G c.94+263A>G - IntronicSNV - 2/5 2
17-45008466-A-G c.96A>G p.I32M Missense 3/6 - 1
17-45008467-G-C c.97G>C p.V33L Missense 3/6 - 1
17-45008467-G-T c.97G>T p.V33L Missense 3/6 - 1
17-45008474-A-G c.104A>G p.N35S Missense 3/6 - 1
17-45008474-A-T c.104A>T p.N35I Missense 3/6 - 1
17-45008479-A-T c.109A>T p.I37F Missense 3/6 - 1
17-45008498-A-C c.128A>C p.Q43P Missense 3/6 - 1
17-45008498-A-G c.128A>G p.Q43R Missense 3/6 - 1
17-45008498-A-T c.128A>T p.Q43L Missense 3/6 - 1
17-45008503-T-C c.133T>C p.F45L Missense 3/6 - 1
17-45008503-T-G c.133T>G p.F45V Missense 3/6 - 1
17-45008504-T-C c.134T>C p.F45S Missense 3/6 - 2
17-45008505-C-T c.135C>T p.F45= Synonymous 3/6 - 1
17-45008506-AG-CT c.136_137inv p.S46L Missense 3/6 - 1
17-45008509-C-T c.139C>T p.R47C Missense 3/6 - 2
17-45008518-C-T c.148C>T p.R50C Missense 3/6 - 3
17-45008521-CTG-ATC c.151_153delinsATC p.L51I Missense 3/6 - 1
17-45008521-CT-TC c.151_152delinsTC p.L51S Missense 3/6 - 1
17-45008521-C-T c.151C>T p.L51= Synonymous 3/6 - 1
17-45008523-G-A c.153G>A p.L51= Synonymous 3/6 - 1
17-45008523-G-C c.153G>C p.L51= Synonymous 3/6 - 1
17-45008523-G-T c.153G>T p.L51= Synonymous 3/6 - 1
17-45008524-G-A c.154G>A p.E52K Missense 3/6 - 4
17-45008526-G-T c.156G>T p.E52D Missense 3/6 - 1
17-45008532-G-A c.162G>A p.L54= Synonymous 3/6 - 1
17-45008537-G-A c.167G>A p.S56N Missense 3/6 - 1
17-45008540-A-G c.170A>G p.K57R Missense 3/6 - 3
17-45008543-A-G c.173A>G p.E58G Missense 3/6 - 1
17-45008544-G-T c.174G>T p.E58D Missense 3/6 - 1
17-45008548-C-T c.178C>T p.P60S Missense 3/6 - 1
17-45008549-C-T c.179C>T p.P60L Missense 3/6 - 1
17-45008554-A-T c.184A>T p.K62* Nonsense 3/6 - 2
17-45008566-G-T c.196G>T p.A66S Missense 3/6 - 1
17-45008567-C-A c.197C>A p.A66D Missense 3/6 - 1
17-45008567-C-T c.197C>T p.A66V Missense 3/6 - 1
17-45008569-A-T c.199A>T p.R67* Nonsense 3/6 - 1
17-45008570-G-A c.200G>A p.R67K Missense 3/6 - 57
17-45008572-CTG-C c.203+1_203+2del - SpliceDonorDeletion - 3/5 1
17-45008576-A-G c.203+3A>G - IntronicSNV - 3/5 1
17-45008742-G-A c.203+169G>A - IntronicSNV - 3/5 3
17-45008742-G-C c.203+169G>C - IntronicSNV - 3/5 6
17-45008935-A-G c.203+362A>G - IntronicSNV - 3/5 6
17-45009434-C-A c.205C>A p.R69= Synonymous 4/6 - 1
17-45009434-C-T c.205C>T p.R69W Missense 4/6 - 1
17-45009438-T-A c.209T>A p.V70D Missense 4/6 - 3
17-45009440-G-C c.211G>C p.D71H Missense 4/6 - 1
17-45009443-C-A c.214C>A p.Q72K Missense 4/6 - 1
17-45009453-A-T c.224A>T p.Y75F Missense 4/6 - 2
17-45009463-G-C c.234G>C p.Q78H Missense 4/6 - 1
17-45009463-GC-TT c.234_235delinsTT p.Q78_H79delinsHY MultiAAMissense 4/6 - 1
17-45009463-G-T c.234G>T p.Q78H Missense 4/6 - 1
17-45009464-CA-GG c.235_236delinsGG p.H79G Missense 4/6 - 2
17-45009464-C-T c.235C>T p.H79Y Missense 4/6 - 2
17-45009477-C-T c.248C>T p.A83V Missense 4/6 - 2
17-45009482-AGA-TGG c.253_255delinsTGG p.R85W Missense 4/6 - 1
17-45009482-A-T c.253A>T p.R85* Nonsense 4/6 - 1
17-45009485-A-C c.256A>C p.N86H Missense 4/6 - 3
17-45009487-C-G c.258C>G p.N86K Missense 4/6 - 1
17-45009490-C-T c.261C>T p.F87= Synonymous 4/6 - 1
17-45009491-C-A c.262C>A p.Q88K Missense 4/6 - 1
17-45009495-A-G c.266A>G p.H89R Missense 4/6 - 2
17-45009497-CGG-TGT c.268_270delinsTGT p.R90C Missense 4/6 - 1
17-45009497-C-T c.268C>T p.R90W Missense 4/6 - 3
17-45009498-G-A c.269G>A p.R90Q Missense 4/6 - 1
17-45009498-G-T c.269G>T p.R90L Missense 4/6 - 1
17-45009499-G-A c.270G>A p.R90= Synonymous 4/6 - 1
17-45009501-G-A c.272G>A p.R91H Missense 4/6 - 4
17-45009511-G-C c.282G>C p.R94S Missense 4/6 - 2
17-45009511-G-T c.282G>T p.R94S Missense 4/6 - 1
17-45009523-G-A c.294G>A p.E98= Synonymous 4/6 - 1
17-45009523-G-C c.294G>C p.E98D Missense 4/6 - 1
17-45009529-G-C c.300G>C p.Q100H Missense 4/6 - 1
17-45009531-G-A c.302G>A p.R101Q Missense 4/6 - 1
17-45009531-G-C c.302G>C p.R101P Missense 4/6 - 2
17-45009533-G-C c.304G>C p.E102Q Missense 4/6 - 1
17-45009535-A-C c.306A>C p.E102D Missense 4/6 - 1
17-45009536-G-A c.307G>A p.E103K Missense 4/6 - 2
17-45009542-C-T c.313C>T p.L105= Synonymous 4/6 - 1
17-45009544-G-A c.315G>A p.L105= Synonymous 4/6 - 1
17-45009544-G-C c.315G>C p.L105= Synonymous 4/6 - 1
17-45009544-G-T c.315G>T p.L105= Synonymous 4/6 - 1
17-45009548-C-A c.319C>A p.R107= Synonymous 4/6 - 1
17-45009548-C-G c.319C>G p.R107G Missense 4/6 - 1
17-45009548-C-T c.319C>T p.R107* Nonsense 4/6 - 4
17-45009550-A-C c.321A>C p.R107= Synonymous 4/6 - 1
17-45009550-A-G c.321A>G p.R107= Synonymous 4/6 - 1
17-45009550-A-T c.321A>T p.R107= Synonymous 4/6 - 1
17-45009549-G-A c.320G>A p.R107Q Missense 4/6 - 2
17-45009549-G-C c.320G>C p.R107P Missense 4/6 - 1
17-45009551-A-C c.322A>C p.T108P Missense 4/6 - 2
17-45009560-A-G c.331A>G p.T111A Missense 4/6 - 2
17-45009562-T-C c.333T>C p.T111= Synonymous 4/6 - 2
17-45009565-C-T c.336C>T p.N112= Synonymous 4/6 - 1
17-45009566-G-A c.336+1G>A - IntronicSNV - 4/5 9
17-45009574-G-A c.336+9G>A - IntronicSNV - 4/5 1
17-45009578-C-G c.336+13C>G - IntronicSNV - 4/5 1
17-45009578-C-T c.336+13C>T - IntronicSNV - 4/5 1
17-45009579-G-A c.336+14G>A - IntronicSNV - 4/5 1
17-45009593-C-T c.336+28C>T - IntronicSNV - 4/5 1
17-45009609-C-T c.336+44C>T - IntronicSNV - 4/5 1
17-45009610-G-A c.336+45G>A - IntronicSNV - 4/5 2
17-45009610-G-C c.336+45G>C - IntronicSNV - 4/5 2
17-45009610-G-T c.336+45G>T - IntronicSNV - 4/5 2
17-45009612-G-T c.336+47G>T - IntronicSNV - 4/5 2
17-45009640-C-A c.336+75C>A - IntronicSNV - 4/5 1
17-45009641-A-G c.336+76A>G - IntronicSNV - 4/5 1
17-45010436-T-C c.336+871T>C - IntronicSNV - 4/5 1
17-45012087-A-G c.337-308A>G - IntronicSNV - 4/5 1
17-45012248-T-G c.337-147T>G - IntronicSNV - 4/5 4
17-45012397-C-A c.339C>A p.D113E Missense 5/6 - 1
17-45012398-T-C c.340T>C p.S114P Missense 5/6 - 1
17-45012402-A-T c.344A>T p.D115V Missense 5/6 - 2
17-45012408-C-T c.350C>T p.T117I Missense 5/6 - 1
17-45012410-A-G c.352A>G p.I118V Missense 5/6 - 1
17-45012411-T-C c.353T>C p.I118T Missense 5/6 - 5
17-45012412-A-C c.354A>C p.I118= Synonymous 5/6 - 1
17-45012412-A-T c.354A>T p.I118= Synonymous 5/6 - 1
17-45012413-C-A c.355C>A p.P119T Missense 5/6 - 1
17-45012416-A-G c.358A>G p.M120V Missense 5/6 - 3
17-45012416-AT-GC c.358_359delinsGC p.M120A Missense 5/6 - 1
17-45012418-TGGACGAATCACTGCAGTTTAACTCCTCC-T c.360_387del p.M120Ifs*14 Frameshift 5/6 - 1
17-45012419-G-A c.361G>A p.D121N Missense 5/6 - 1
17-45012420-A-G c.362A>G p.D121G Missense 5/6 - 1
17-45012422-G-A c.364G>A p.E122K Missense 5/6 - 2
17-45012432-A-G c.374A>G p.Q125R Missense 5/6 - 1
17-45012433-G-T c.375G>T p.Q125H Missense 5/6 - 1
17-45012440-T-A c.382T>A p.S128T Missense 5/6 - 1
17-45012441-C-T c.383C>T p.S128F Missense 5/6 - 2
17-45012442-C-T c.384C>T p.S128= Synonymous 5/6 - 2
17-45012446-C-G c.388C>G p.L130V Missense 5/6 - 1
17-45012451-G-C c.393G>C p.Q131H Missense 5/6 - 1
17-45012451-G-T c.393G>T p.Q131H Missense 5/6 - 3
17-45012453-A-G c.395A>G p.K132R Missense 5/6 - 1
17-45012454-A-C c.396A>C p.K132N Missense 5/6 - 1
17-45012458-C-A c.400C>A p.H134N Missense 5/6 - 1
17-45012461-A-C c.403A>C p.N135H Missense 5/6 - 1
17-45012461-A-G c.403A>G p.N135D Missense 5/6 - 1
17-45012462-A-G c.404A>G p.N135S Missense 5/6 - 1
17-45012463-C-T c.405C>T p.N135= Synonymous 5/6 - 2
17-45012468-T-C c.410T>C p.M137T UnclassifiedSNV 5/6 - 1
17-45012471-ATGACCTCATTTTAGATGGGCACAATATT-A c.415_442del p.D139* Frameshift 5/6 - 1
17-45012473-G-A c.415G>A p.D139N Missense 5/6 - 1
17-45012474-A-G c.416A>G p.D139G Missense 5/6 - 1
17-45012486-A-T c.428A>T p.D143V Missense 5/6 - 1
17-45012488-G-T c.430G>T p.G144W Missense 5/6 - 16
17-45012489-G-A c.431G>A p.G144E Missense 5/6 - 3
17-45012489-GG-AC c.431_432delinsAC p.G144D Missense 5/6 - 1
17-45012503-G-A c.445G>A p.D149N Missense 5/6 - 1
17-45012507-G-A c.449G>A p.G150E Missense 5/6 - 1
17-45012509-C-G c.451C>G p.L151V Missense 5/6 - 1
17-45012543-C-T c.477+8C>T - IntronicSNV - 5/5 1
17-45012555-A-T c.477+20A>T - IntronicSNV - 5/5 1
17-45012558-G-T c.477+23G>T - IntronicSNV - 5/5 1
17-45012560-G-A c.477+25G>A - IntronicSNV - 5/5 1
17-45012564-A-C c.477+29A>C - IntronicSNV - 5/5 1
17-45012573-G-A c.477+38G>A - IntronicSNV - 5/5 1
17-45012603-G-C c.477+68G>C - IntronicSNV - 5/5 1
17-45012608-T-A c.477+73T>A - IntronicSNV - 5/5 1
17-45012611-A-G c.477+76A>G - IntronicSNV - 5/5 1
17-45012618-T-G c.477+83T>G - IntronicSNV - 5/5 1
17-45012621-C-T c.477+86C>T - IntronicSNV - 5/5 1
17-45012623-T-C c.477+88T>C - IntronicSNV - 5/5 1
17-45012624-G-A c.477+89G>A - IntronicSNV - 5/5 1
17-45013271-T-C c.477+736T>C - IntronicSNV - 5/5 51
17-45013716-A-G c.477+1181A>G - IntronicSNV - 5/5 5
17-45015835-T-C c.478-130T>C - IntronicSNV - 5/5 2
17-45015937-T-G c.478-28T>G - IntronicSNV - 5/5 1
17-45015965-G-C c.478G>C p.G160R Missense 6/6 - 1
17-45015967-G-A c.480G>A p.G160= Synonymous 6/6 - 1
17-45015968-A-G c.481A>G p.T161A Missense 6/6 - 1
17-45015969-C-T c.482C>T p.T161I Missense 6/6 - 1
17-45015970-T-A c.483T>A p.T161= Synonymous 6/6 - 1
17-45015970-T-C c.483T>C p.T161= Synonymous 6/6 - 1
17-45015970-T-G c.483T>G p.T161= Synonymous 6/6 - 2
17-45015976-G-T c.489G>T p.K163N Missense 6/6 - 1
17-45015971-CAGA-C c.491_493del p.K164del InFrameDeletion 6/6 - 6
17-45015980-A-C c.493A>C p.I165L Missense 6/6 - 1
17-45015989-A-C c.502A>C p.I168L Missense 6/6 - 1
17-45015989-A-T c.502A>T p.I168F Missense 6/6 - 1
17-45015996-A-G c.509A>G p.N170S Missense 6/6 - 2
17-45015997-C-G c.510C>G p.N170K Missense 6/6 - 1
17-45015999-T-C c.512T>C p.M171T Missense 6/6 - 1
17-45016000-G-GT c.513_514insT p.L172Sfs*79 Frameshift 6/6 - 1
17-45016002-T-C c.515T>C p.L172P Missense 6/6 - 1
17-45016004-G-T c.517G>T p.G173C Missense 6/6 - 1
17-45016011-C-G c.524C>G p.S175C Missense 6/6 - 1
17-45016021-G-T c.534G>T p.V178= Synonymous 6/6 - 1
17-45016024-G-A c.537G>A p.M179I Missense 6/6 - 2
17-45016024-G-C c.537G>C p.M179I Missense 6/6 - 2
17-45016024-G-T c.537G>T p.M179I Missense 6/6 - 2
17-45016025-C-T c.538C>T p.R180W Missense 6/6 - 5
17-45016026-G-A c.539G>A p.R180Q Missense 6/6 - 2
17-45016028-C-G c.541C>G p.L181V Missense 6/6 - 1
17-45016029-T-A c.542T>A p.L181H Missense 6/6 - 1
17-45016031-CAT-C c.544_545del p.I182Rfs*68 Frameshift 6/6 - 1
17-45016033-C-A c.546C>A p.I182= Synonymous 6/6 - 1
17-45016033-C-T c.546C>T p.I182= Synonymous 6/6 - 1
17-45016034-G-A c.547G>A p.E183K Missense 6/6 - 2
17-45016035-A-G c.548A>G p.E183G Missense 6/6 - 1
17-45016040-C-T c.553C>T p.R185W Missense 6/6 - 1
17-45016041-G-A c.554G>A p.R185Q Missense 6/6 - 2
17-45016041-GGGCTTTCCAGGACAAGTACTTTATGATA-G c.557_584del p.A186Vfs*5 Frameshift 6/6 - 2
17-45016044-C-T c.557C>T p.A186V Missense 6/6 - 2
17-45016055-A-G c.568A>G p.K190E Missense 6/6 - 1
17-45016064-AT-GC c.577_578delinsGC p.M193A Missense 6/6 - 1
17-45016066-G-A c.579G>A p.M193I Missense 6/6 - 2
17-45016066-G-T c.579G>T p.M193I Missense 6/6 - 1
17-45016071-G-A c.584G>A p.G195D Missense 6/6 - 1
17-45016071-G-T c.584G>T p.G195V Missense 6/6 - 1
17-45016087-C-T c.600C>T p.T200= Synonymous 6/6 - 2
17-45016089-G-A c.602G>A p.C201Y Missense 6/6 - 1
17-45016091-G-T c.604G>T p.V202L Missense 6/6 - 1
17-45016094-G-A c.607G>A p.V203I Missense 6/6 - 1
17-45016094-G-C c.607G>C p.V203L Missense 6/6 - 1
17-45016100-T-C c.613T>C p.F205L Missense 6/6 - 1
17-45016102-C-A c.615C>A p.F205L Missense 6/6 - 1
17-45016102-C-G c.615C>G p.F205L Missense 6/6 - 1
17-45016099-GT-G c.614del p.F205Sfs*7 Frameshift 6/6 - 1
17-45016106-G-A c.619G>A p.V207M Missense 6/6 - 1
17-45016123-A-G c.636A>G p.T212= Synonymous 6/6 - 1
17-45016124-T-C c.637T>C p.*213Rext*20 Missense 6/6 - 1
17-45016412-G-GTGGCTTTGT c.*288_*296dup - 3-UTRInsertion 6/6 - 1
17-45016427-T-C c.*301T>C - 3-UTRSNV 6/6 - 8
17-45017193-G-A c.*1067G>A - 3-UTRSNV 6/6 - 4
17-45017241-G-A c.*1115G>A - 3-UTRSNV 6/6 - 8
17-45017645-T-C c.*1519T>C - 3-UTRSNV 6/6 - 5
17-45017829-A-G c.*1703A>G - 3-UTRSNV 6/6 - 1
17-45017837-G-A c.*1711G>A - 3-UTRSNV 6/6 - 5
17-45017837-G-C c.*1711G>C - 3-UTRSNV 6/6 - 5
17-45017859-A-G c.*1733A>G - 3-UTRSNV 6/6 - 19
17-45017859-A-T c.*1733A>T - 3-UTRSNV 6/6 - 19
17-45017952-T-G c.*1826T>G - 3-UTRSNV 6/6 - 1
17-45018418-C-T c.*2292C>T - 3-UTRSNV 6/6 - 3
17-45018463-T-C c.*2337T>C - 3-UTRSNV 6/6 - 6
17-45019243-T-C c.*3117T>C - IntergenicSNV 6/6 - 2
17-45019243-T-G c.*3117T>G - IntergenicSNV 6/6 - 2