LRP2

LRP2 LDL receptor related protein 2

Annotation transcript: NM_004525.3

7880 unique variant annotations were identified in 1329 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
2-169983768-T-A c.*1405A>T - 3-UTRSNV 79/79 - 3
2-169983768-T-C c.*1405A>G - 3-UTRSNV 79/79 - 3
2-169983768-T-G c.*1405A>C - 3-UTRSNV 79/79 - 3
2-169984066-C-A c.*1107G>T - 3-UTRSNV 79/79 - 1
2-169984629-A-G c.*544T>C - 3-UTRSNV 79/79 - 2
2-169984643-G-A c.*530C>T - 3-UTRSNV 79/79 - 1
2-169984920-A-G c.*253T>C - 3-UTRSNV 79/79 - 1
2-169985015-A-G c.*158T>C - 3-UTRSNV 79/79 - 1
2-169985155-C-T c.*18G>A - 3-UTRSNV 79/79 - 1
2-169985174-T-C c.13967A>G p.*4656Wext*8 Missense 79/79 - 1
2-169985178-C-G c.13963G>C p.V4655L Missense 79/79 - 2
2-169985178-C-T c.13963G>A p.V4655I Missense 79/79 - 1
2-169985181-C-A c.13960G>T p.E4654* Nonsense 79/79 - 1
2-169985181-C-T c.13960G>A p.E4654K Missense 79/79 - 2
2-169985183-G-C c.13958C>G p.S4653C Missense 79/79 - 1
2-169985184-A-C c.13957T>G p.S4653A Missense 79/79 - 2
2-169985184-A-G c.13957T>C p.S4653P Missense 79/79 - 1
2-169985188-T-A c.13953A>T p.E4651D Missense 79/79 - 1
2-169985188-T-G c.13953A>C p.E4651D Missense 79/79 - 2
2-169985190-C-A c.13951G>T p.E4651* Nonsense 79/79 - 3
2-169985190-C-T c.13951G>A p.E4651K Missense 79/79 - 1
2-169985190-CT-C c.13950del p.E4651Kfs*15 Frameshift 79/79 - 1
2-169985193-T-G c.13948A>C p.K4650Q Missense 79/79 - 1
2-169985193-T-TA c.13947dup p.K4650* Nonsense 79/79 - 1
2-169985197-A-G c.13944T>C p.L4648= Synonymous 79/79 - 1
2-169985199-G-A c.13942C>T p.L4648F Missense 79/79 - 3
2-169985199-G-T c.13942C>A p.L4648I Missense 79/79 - 2
2-169985200-A-G c.13941T>C p.N4647= Synonymous 79/79 - 3
2-169985201-T-C c.13940A>G p.N4647S Missense 79/79 - 1
2-169985202-T-C c.13939A>G p.N4647D Missense 79/79 - 1
2-169985202-T-G c.13939A>C p.N4647H Missense 79/79 - 2
2-169985204-G-A c.13937C>T p.A4646V Missense 79/79 - 4
2-169985205-C-A c.13936G>T p.A4646S Missense 79/79 - 2
2-169985205-C-T c.13936G>A p.A4646T Missense 79/79 - 7
2-169985206-G-A c.13935C>T p.T4645= Synonymous 79/79 - 1
2-169985206-G-C c.13935C>G p.T4645= Synonymous 79/79 - 1
2-169985213-T-C c.13928A>G p.K4643R Missense 79/79 - 1
2-169985220-T-A c.13921A>T p.T4641S Missense 79/79 - 3
2-169985221-G-C c.13920C>G p.D4640E Missense 79/79 - 1
2-169985222-T-A c.13919A>T p.D4640V Missense 79/79 - 1
2-169985225-T-A c.13916A>T p.E4639V Missense 79/79 - 1
2-169985229-T-C c.13912A>G p.T4638A Missense 79/79 - 2
2-169985231-G-A c.13910C>T p.A4637V Missense 79/79 - 1
2-169985235-A-T c.13906T>A p.S4636T Missense 79/79 - 1
2-169985237-T-C c.13904A>G p.Y4635C Missense 79/79 - 1
2-169985239-G-C c.13902C>G p.T4634= Synonymous 79/79 - 1
2-169985239-G-T c.13902C>A p.T4634= Synonymous 79/79 - 1
2-169985241-T-C c.13900A>G p.T4634A Missense 79/79 - 1
2-169985243-G-A c.13898C>T p.P4633L Missense 79/79 - 2
2-169985247-T-C c.13894A>G p.T4632A Missense 79/79 - 2
2-169985249-G-C c.13892C>G p.P4631R Missense 79/79 - 2
2-169985255-C-G c.13886G>C p.R4629T Missense 79/79 - 3
2-169985258-C-A c.13883G>T p.R4628I Missense 79/79 - 1
2-169985258-C-G c.13883G>C p.R4628T Missense 79/79 - 2
2-169985258-C-T c.13883G>A p.R4628K Missense 79/79 - 2
2-169985260-C-A c.13881G>T p.S4627= Synonymous 79/79 - 1
2-169985260-C-T c.13881G>A p.S4627= Synonymous 79/79 - 1
2-169985261-G-A c.13880C>T p.S4627L Missense 79/79 - 9
2-169985261-G-C c.13880C>G p.S4627W Missense 79/79 - 2
2-169985261-G-T c.13880C>A p.S4627* Nonsense 79/79 - 1
2-169985264-G-A c.13877C>T p.P4626L Missense 79/79 - 1
2-169985265-G-C c.13876C>G p.P4626A Missense 79/79 - 2
2-169985270-T-C c.13871A>G p.K4624R Missense 79/79 - 1
2-169985273-G-A c.13868C>T p.P4623L Missense 79/79 - 2
2-169985274-G-C c.13867C>G p.P4623A Missense 79/79 - 1
2-169985274-G-T c.13867C>A p.P4623T Missense 79/79 - 1
2-169985282-G-A c.13859C>T p.P4620L Missense 79/79 - 1
2-169985283-G-A c.13858C>T p.P4620S Missense 79/79 - 3
2-169985286-G-A c.13855C>T p.L4619F Missense 79/79 - 1
2-169985288-G-A c.13853C>T p.S4618L Missense 79/79 - 7
2-169985289-A-T c.13852T>A p.S4618T Missense 79/79 - 1
2-169985291-G-A c.13850C>T p.P4617L Missense 79/79 - 1
2-169985291-G-T c.13850C>A p.P4617H Missense 79/79 - 1
2-169985293-T-A c.13848A>T p.S4616= Synonymous 79/79 - 2
2-169985293-T-C c.13848A>G p.S4616= Synonymous 79/79 - 1
2-169985293-T-G c.13848A>C p.S4616= Synonymous 79/79 - 1
2-169985294-G-A c.13847C>T p.S4616L Missense 79/79 - 1
2-169985297-G-A c.13844C>T p.P4615L Missense 79/79 - 2
2-169985298-G-A c.13843C>T p.P4615S Missense 79/79 - 3
2-169985300-G-A c.13841C>T p.P4614L Missense 79/79 - 1
2-169985301-G-A c.13840C>T p.P4614S Missense 79/79 - 6
2-169985305-T-A c.13836A>T p.T4612= Synonymous 79/79 - 1
2-169985305-T-C c.13836A>G p.T4612= Synonymous 79/79 - 1
2-169985305-T-G c.13836A>C p.T4612= Synonymous 79/79 - 1
2-169985307-T-G c.13834A>C p.T4612P Missense 79/79 - 2
2-169985308-C-A c.13833G>T p.A4611= Synonymous 79/79 - 1
2-169985308-C-G c.13833G>C p.A4611= Synonymous 79/79 - 1
2-169985308-C-T c.13833G>A p.A4611= Synonymous 79/79 - 1
2-169985309-G-A c.13832C>T p.A4611V Missense 79/79 - 4
2-169985321-T-A c.13820A>T p.E4607V Missense 79/79 - 1
2-169985322-C-T c.13819G>A p.E4607K Missense 79/79 - 6
2-169985323-C-T c.13818G>A p.K4606= Synonymous 79/79 - 1
2-169985328-G-A c.13813C>T p.Q4605* Nonsense 79/79 - 1
2-169985329-C-A c.13812G>T p.E4604D Missense 79/79 - 1
2-169985329-C-G c.13812G>C p.E4604D Missense 79/79 - 1
2-169985329-C-T c.13812G>A p.E4604= Synonymous 79/79 - 1
2-169985330-T-C c.13811A>G p.E4604G Missense 79/79 - 2
2-169985331-C-A c.13810G>T p.E4604* Nonsense 79/79 - 1
2-169985331-C-T c.13810G>A p.E4604K Missense 79/79 - 10
2-169985332-G-A c.13809C>T p.N4603= Synonymous 79/79 - 1
2-169985332-G-C c.13809C>G p.N4603K Missense 79/79 - 2
2-169985333-T-A c.13808A>T p.N4603I Missense 79/79 - 1
2-169985334-T-C c.13807A>G p.N4603D Missense 79/79 - 1
2-169985335-C-G c.13806G>C p.E4602D Missense 79/79 - 1
2-169985337-C-G c.13804G>C p.E4602Q Missense 79/79 - 1
2-169985337-C-T c.13804G>A p.E4602K Missense 79/79 - 1
2-169985338-C-A c.13803G>T p.M4601I Missense 79/79 - 3
2-169985338-C-G c.13803G>C p.M4601I Missense 79/79 - 3
2-169985338-C-T c.13803G>A p.M4601I Missense 79/79 - 10
2-169985339-A-C c.13802T>G p.M4601R Missense 79/79 - 1
2-169985339-A-G c.13802T>C p.M4601T Missense 79/79 - 1
2-169985418-T-C c.13801-78A>G - IntronicSNV - 78/78 1
2-169985521-A-G c.13800+2T>C - IntronicSNV - 78/78 1
2-169985521-A-T c.13800+2T>A - IntronicSNV - 78/78 1
2-169985522-C-T c.13800+1G>A - IntronicSNV - 78/78 2
2-169985527-G-A c.13796C>T p.A4599V Missense 78/79 - 3
2-169985527-G-T c.13796C>A p.A4599E Missense 78/79 - 1
2-169985527-TGCATAGATTGGATTTTCAAAGTTGGTAGTTTGTTTAGATTTTCGTTTGAAGAGATTCCA-T c.13738_13796del p.W4580Tfs*23 InFrameDeletion 78/79 - 1
2-169985530-T-A c.13793A>T p.Y4598F Missense 78/79 - 2
2-169985530-T-C c.13793A>G p.Y4598C Missense 78/79 - 1
2-169985532-G-A c.13791C>T p.I4597= Synonymous 78/79 - 1
2-169985532-G-T c.13791C>A p.I4597= Synonymous 78/79 - 1
2-169985534-T-C c.13789A>G p.I4597V Missense 78/79 - 1
2-169985537-G-C c.13786C>G p.P4596A Missense 78/79 - 1
2-169985537-G-T c.13786C>A p.P4596T Missense 78/79 - 1
2-169985550-G-A c.13773C>T p.T4591= Synonymous 78/79 - 2
2-169985550-G-C c.13773C>G p.T4591= Synonymous 78/79 - 1
2-169985550-G-T c.13773C>A p.T4591= Synonymous 78/79 - 1
2-169985554-G-C c.13769C>G p.T4590S Missense 78/79 - 1
2-169985555-T-A c.13768A>T p.T4590S Missense 78/79 - 1
2-169985557-T-G c.13766A>C p.Q4589P Missense 78/79 - 1
2-169985558-G-C c.13765C>G p.Q4589E Missense 78/79 - 1
2-169985561-T-C c.13762A>G p.K4588E Missense 78/79 - 2
2-169985563-G-A c.13760C>T p.S4587F Missense 78/79 - 2
2-169985566-T-C c.13757A>G p.K4586R Missense 78/79 - 1
2-169985569-C-T c.13754G>A p.R4585Q Missense 78/79 - 11
2-169985570-G-A c.13753C>T p.R4585* Nonsense 78/79 - 2
2-169985573-T-TA c.13749_13750insT p.K4584* Nonsense 78/79 - 1
2-169985579-G-A c.13744C>T p.L4582F Missense 78/79 - 3
2-169985579-G-T c.13744C>A p.L4582I Missense 78/79 - 1
2-169985580-A-T c.13743T>A p.N4581K Missense 78/79 - 1
2-169985583-C-T c.13740G>A p.W4580* Nonsense 78/79 - 2
2-169985585-A-G c.13738T>C p.W4580R Missense 78/79 - 1
2-169985585-A-T c.13738T>A p.W4580R Missense 78/79 - 1
2-169989091-C-A c.13721G>T p.G4574V Missense 77/79 - 1
2-169989091-C-T c.13721G>A p.G4574E Missense 77/79 - 5
2-169989092-C-T c.13720G>A p.G4574R Missense 77/79 - 1
2-169989094-T-C c.13718A>G p.D4573G Missense 77/79 - 1
2-169989098-C-A c.13714G>T p.A4572S Missense 77/79 - 1
2-169989100-G-A c.13712C>T p.A4571V Missense 77/79 - 1
2-169989105-T-A c.13707A>T p.S4569= Synonymous 77/79 - 1
2-169989105-T-C c.13707A>G p.S4569= Synonymous 77/79 - 1
2-169989105-T-G c.13707A>C p.S4569= Synonymous 77/79 - 1
2-169989109-G-C c.13703C>G p.T4568S Missense 77/79 - 1
2-169989112-G-C c.13700C>G p.P4567R Missense 77/79 - 1
2-169989113-G-A c.13699C>T p.P4567S Missense 77/79 - 1
2-169989113-G-C c.13699C>G p.P4567A Missense 77/79 - 1
2-169989114-G-A c.13698C>T p.N4566= Synonymous 77/79 - 2
2-169989114-G-T c.13698C>A p.N4566K Missense 77/79 - 1
2-169989118-G-A c.13694C>T p.T4565I Missense 77/79 - 1
2-169989119-T-C c.13693A>G p.T4565A Missense 77/79 - 1
2-169989122-C-G c.13690G>C p.E4564Q Missense 77/79 - 1
2-169989127-A-G c.13685T>C p.V4562A Missense 77/79 - 8
2-169989132-C-A c.13680G>T p.E4560D Missense 77/79 - 2
2-169989134-C-G c.13678G>C p.E4560Q Missense 77/79 - 2
2-169989134-C-T c.13678G>A p.E4560K Missense 77/79 - 1
2-169989136-G-A c.13676C>T p.S4559F Missense 77/79 - 3
2-169989138-A-C c.13674T>G p.P4558= Synonymous 77/79 - 1
2-169989138-A-G c.13674T>C p.P4558= Synonymous 77/79 - 1
2-169989138-A-T c.13674T>A p.P4558= Synonymous 77/79 - 1
2-169989139-G-A c.13673C>T p.P4558L Missense 77/79 - 2
2-169989139-G-T c.13673C>A p.P4558H Missense 77/79 - 1
2-169989140-G-C c.13672C>G p.P4558A Missense 77/79 - 2
2-169989141-G-C c.13671C>G p.N4557K Missense 77/79 - 2
2-169989149-G-A c.13663C>T p.P4555S Missense 77/79 - 2
2-169989151-C-A c.13661G>T p.S4554I Missense 77/79 - 1
2-169989151-C-T c.13661G>A p.S4554N Missense 77/79 - 1
2-169989157-T-A c.13655A>T p.Y4552F Missense 77/79 - 1
2-169989157-T-C c.13655A>G p.Y4552C Missense 77/79 - 2
2-169989158-TAA-T c.13653_13654del p.N4551Kfs*9 Frameshift 77/79 - 2
2-169989160-T-C c.13652A>G p.N4551S Missense 77/79 - 2
2-169989162-C-A c.13650G>T p.K4550N Missense 77/79 - 1
2-169989163-T-C c.13649A>G p.K4550R Missense 77/79 - 3
2-169989165-TA-T c.13647del p.N4549Kfs*8 Frameshift 77/79 - 2
2-169989167-T-TA c.13644dup p.N4549* Nonsense 77/79 - 1
2-169989168-A-G c.13644T>C p.D4548= Synonymous 77/79 - 1
2-169989169-T-A c.13643A>T p.D4548V Missense 77/79 - 1
2-169989170-C-G c.13642G>C p.D4548H Missense 77/79 - 1
2-169989171-C-A c.13641G>T p.V4547= Synonymous 77/79 - 2
2-169989171-C-G c.13641G>C p.V4547= Synonymous 77/79 - 1
2-169989171-C-T c.13641G>A p.V4547= Synonymous 77/79 - 1
2-169989175-T-C c.13637A>G p.N4546S Missense 77/79 - 1
2-169989176-T-C c.13636A>G p.N4546D Missense 77/79 - 2
2-169989179-C-T c.13633G>A p.E4545K Missense 77/79 - 7
2-169989181-G-A c.13631C>T p.S4544F Missense 77/79 - 1
2-169989181-G-C c.13631C>G p.S4544C Missense 77/79 - 1
2-169989182-A-G c.13630T>C p.S4544P Missense 77/79 - 1
2-169989189-C-A c.13623G>T p.V4541= Synonymous 77/79 - 1
2-169989189-C-G c.13623G>C p.V4541= Synonymous 77/79 - 3
2-169989189-C-T c.13623G>A p.V4541= Synonymous 77/79 - 1
2-169989191-C-T c.13621G>A p.V4541M Missense 77/79 - 1
2-169989259-G-C c.13621-68C>G - IntronicSNV - 76/78 1
2-169989275-G-A c.13621-84C>T - IntronicSNV - 76/78 1
2-169991064-G-A c.13621-1873C>T - IntronicSNV - 76/78 1
2-169991103-C-G c.13621-1912G>C - IntronicSNV - 76/78 1
2-169991103-C-T c.13621-1912G>A - IntronicSNV - 76/78 1
2-169991466-A-G c.13621-2275T>C - IntronicSNV - 76/78 1
2-169991466-A-T c.13621-2275T>A - IntronicSNV - 76/78 1
2-169993777-G-T c.13620+125C>A - IntronicSNV - 76/78 1
2-169993888-G-C c.13620+14C>G - IntronicSNV - 76/78 1
2-169993899-C-T c.13620+3G>A - IntronicSNV - 76/78 1
2-169993902-C-A c.13620G>T p.Q4540H Missense 76/79 - 7
2-169993902-C-G c.13620G>C p.Q4540H Missense 76/79 - 5
2-169993904-G-A c.13618C>T p.Q4540* Nonsense 76/79 - 1
2-169993907-T-C c.13615A>G p.I4539V Missense 76/79 - 1
2-169993909-G-C c.13613C>G p.P4538R Missense 76/79 - 2
2-169993909-G-T c.13613C>A p.P4538Q Missense 76/79 - 1
2-169993912-T-G c.13610A>C p.Q4537P Missense 76/79 - 2
2-169993916-C-T c.13606G>A p.V4536I Missense 76/79 - 3
2-169993917-C-A c.13605G>T p.V4535= Synonymous 76/79 - 1
2-169993917-C-G c.13605G>C p.V4535= Synonymous 76/79 - 1
2-169993917-C-T c.13605G>A p.V4535= Synonymous 76/79 - 1
2-169993919-C-T c.13603G>A p.V4535M Missense 76/79 - 3
2-169993921-T-C c.13601A>G p.K4534R Missense 76/79 - 2
2-169993921-T-G c.13601A>C p.K4534T Missense 76/79 - 2
2-169993928-C-A c.13594G>T p.A4532S Missense 76/79 - 1
2-169993934-C-T c.13588G>A p.D4530N Missense 76/79 - 1
2-169993938-G-A c.13584C>T p.A4528= Synonymous 76/79 - 2
2-169993944-G-C c.13578C>G p.Y4526* Nonsense 76/79 - 1
2-169993944-G-T c.13578C>A p.Y4526* Nonsense 76/79 - 1
2-169993948-A-C c.13574T>G p.M4525R Missense 76/79 - 1
2-169993949-T-C c.13573A>G p.M4525V Missense 76/79 - 1
2-169993951-G-A c.13571C>T p.P4524L Missense 76/79 - 1
2-169993954-T-C c.13568A>G p.N4523S Missense 76/79 - 1
2-169993958-C-G c.13564G>C p.E4522Q Missense 76/79 - 3
2-169993958-C-T c.13564G>A p.E4522K Missense 76/79 - 1
2-169993962-T-C c.13560A>G p.I4520M Missense 76/79 - 2
2-169993965-T-A c.13557A>T p.I4519= Synonymous 76/79 - 2
2-169993965-T-C c.13557A>G p.I4519M Missense 76/79 - 1
2-169993965-T-G c.13557A>C p.I4519= Synonymous 76/79 - 1
2-169993969-G-C c.13553C>G p.P4518R Missense 76/79 - 1
2-169993974-C-G c.13548G>C p.K4516N Missense 76/79 - 2
2-169993977-C-T c.13545G>A p.G4515= Synonymous 76/79 - 2
2-169993978-CC-TT c.13543_13544delinsAA p.G4515K Missense 76/79 - 1
2-169993979-C-A c.13543G>T p.G4515W Missense 76/79 - 3
2-169993979-C-T c.13543G>A p.G4515R Missense 76/79 - 2
2-169993976-TC-T c.13545del p.K4516Sfs*4 Frameshift 76/79 - 1
2-169993980-C-T c.13542G>A p.M4514I Missense 76/79 - 2
2-169993987-A-G c.13535T>C p.M4512T Missense 76/79 - 1
2-169993988-T-C c.13534A>G p.M4512V Missense 76/79 - 1
2-169993989-G-A c.13533C>T p.V4511= Synonymous 76/79 - 1
2-169993989-G-C c.13533C>G p.V4511= Synonymous 76/79 - 1
2-169993989-G-T c.13533C>A p.V4511= Synonymous 76/79 - 1
2-169993992-A-C c.13530T>G p.F4510L Missense 76/79 - 1
2-169993992-A-T c.13530T>A p.F4510L Missense 76/79 - 1
2-169993996-T-A c.13526A>T p.D4509V Missense 76/79 - 1
2-169993997-C-T c.13525G>A p.D4509N Missense 76/79 - 3
2-169993998-T-C c.13524A>G p.E4508= Synonymous 76/79 - 1
2-169994000-C-A c.13522G>T p.E4508* Nonsense 76/79 - 1
2-169995088-A-G c.13517T>C p.M4506T Missense 75/79 - 1
2-169995089-T-C c.13516A>G p.M4506V Missense 75/79 - 2
2-169995091-G-T c.13514C>A p.A4505E Missense 75/79 - 2
2-169995093-C-A c.13512G>T p.M4504I Missense 75/79 - 1
2-169995093-C-G c.13512G>C p.M4504I Missense 75/79 - 1
2-169995093-C-T c.13512G>A p.M4504I Missense 75/79 - 1
2-169995095-T-A c.13510A>T p.M4504L Missense 75/79 - 1
2-169995097-G-A c.13508C>T p.S4503L Missense 75/79 - 7
2-169995097-G-C c.13508C>G p.S4503* Nonsense 75/79 - 1
2-169995097-G-T c.13508C>A p.S4503* Nonsense 75/79 - 1
2-169995104-C-A c.13501G>T p.D4501Y Missense 75/79 - 1
2-169995107-T-C c.13498A>G p.I4500V Missense 75/79 - 2
2-169995109-G-A c.13496C>T p.A4499V Missense 75/79 - 1
2-169995113-T-C c.13492A>G p.T4498A Missense 75/79 - 1
2-169995117-A-C c.13488T>G p.P4496= Synonymous 75/79 - 1
2-169995121-C-A c.13484G>T p.G4495V Missense 75/79 - 1
2-169995128-C-T c.13477G>A p.G4493S Missense 75/79 - 2
2-169995131-A-G c.13474T>C p.S4492P Missense 75/79 - 1
2-169995132-C-A c.13473G>T p.V4491= Synonymous 75/79 - 1
2-169995132-C-G c.13473G>C p.V4491= Synonymous 75/79 - 1
2-169995132-C-T c.13473G>A p.V4491= Synonymous 75/79 - 1
2-169995136-C-G c.13469G>C p.G4490A Missense 75/79 - 2
2-169995136-C-T c.13469G>A p.G4490E Missense 75/79 - 2
2-169995142-T-G c.13463A>C p.D4488A Missense 75/79 - 2
2-169995144-C-T c.13461G>A p.M4487I Missense 75/79 - 4
2-169995145-A-G c.13460T>C p.M4487T Missense 75/79 - 2
2-169995146-T-C c.13459A>G p.M4487V Missense 75/79 - 2
2-169995146-T-G c.13459A>C p.M4487L Missense 75/79 - 1
2-169995149-T-A c.13456A>T p.N4486Y Missense 75/79 - 1
2-169995151-A-G c.13454T>C p.L4485P Missense 75/79 - 4
2-169995152-G-A c.13453C>T p.L4485F Missense 75/79 - 1
2-169995152-G-C c.13453C>G p.L4485V Missense 75/79 - 2
2-169995163-G-A c.13442C>T p.S4481L Missense 75/79 - 3
2-169995165-T-A c.13440A>T p.R4480S Missense 75/79 - 1
2-169995171-G-A c.13434C>T p.T4478= Synonymous 75/79 - 2
2-169995172-G-A c.13433C>T p.T4478I Missense 75/79 - 2
2-169995174-C-T c.13431G>A p.V4477= Synonymous 75/79 - 1
2-169995178-C-T c.13427G>A p.G4476E Missense 75/79 - 1
2-169995179-C-A c.13426G>T p.G4476W Missense 75/79 - 1
2-169995184-C-G c.13421G>C p.G4474A Missense 75/79 - 1
2-169995184-C-T c.13421G>A p.G4474E Missense 75/79 - 1
2-169995185-C-A c.13420G>T p.G4474W Missense 75/79 - 1
2-169995190-T-C c.13415A>G p.E4472G Missense 75/79 - 5
2-169995191-C-G c.13414G>C p.E4472Q Missense 75/79 - 1
2-169995191-C-T c.13414G>A p.E4472K Missense 75/79 - 2
2-169995197-G-A c.13408C>T p.P4470S Missense 75/79 - 4
2-169995202-A-G c.13403T>C p.V4468A Missense 75/79 - 1
2-169995203-C-T c.13402G>A p.V4468I Missense 75/79 - 3
2-169995204-G-A c.13401C>T p.L4467= Synonymous 75/79 - 4
2-169995206-G-C c.13399C>G p.L4467V Missense 75/79 - 1
2-169995206-G-T c.13399C>A p.L4467I Missense 75/79 - 1
2-169995208-C-T c.13397G>A p.S4466N Missense 75/79 - 1
2-169995209-T-C c.13396A>G p.S4466G Missense 75/79 - 2
2-169995209-T-G c.13396A>C p.S4466R Missense 75/79 - 1
2-169995211-C-T c.13394G>A p.S4465N Missense 75/79 - 2
2-169995216-G-A c.13389C>T p.S4463= Synonymous 75/79 - 1
2-169995581-C-T c.13388+180G>A - IntronicSNV - 74/78 3
2-169995763-T-A c.13386A>T p.P4462= Synonymous 74/79 - 1
2-169995763-T-C c.13386A>G p.P4462= Synonymous 74/79 - 1
2-169995763-T-G c.13386A>C p.P4462= Synonymous 74/79 - 1
2-169995764-G-T c.13385C>A p.P4462Q Missense 74/79 - 1
2-169995765-G-A c.13384C>T p.P4462S Missense 74/79 - 1
2-169995769-C-G c.13380G>C p.K4460N Missense 74/79 - 3
2-169995769-C-T c.13380G>A p.K4460= Synonymous 74/79 - 1
2-169995772-G-T c.13377C>A p.P4459= Synonymous 74/79 - 1
2-169995776-A-G c.13373T>C p.L4458P Missense 74/79 - 1
2-169995781-A-C c.13368T>G p.P4456= Synonymous 74/79 - 1
2-169995781-A-G c.13368T>C p.P4456= Synonymous 74/79 - 1
2-169995781-A-T c.13368T>A p.P4456= Synonymous 74/79 - 1
2-169995783-G-A c.13366C>T p.P4456S Missense 74/79 - 2
2-169995784-C-G c.13365G>C p.L4455F Missense 74/79 - 1
2-169995788-A-G c.13361T>C p.L4454P Missense 74/79 - 4
2-169995789-G-C c.13360C>G p.L4454V Missense 74/79 - 2
2-169995790-G-A c.13359C>T p.S4453= Synonymous 74/79 - 4
2-169995791-G-A c.13358C>T p.S4453F Missense 74/79 - 3
2-169995791-G-C c.13358C>G p.S4453C Missense 74/79 - 5
2-169995792-A-T c.13357T>A p.S4453T Missense 74/79 - 2
2-169995794-C-T c.13355G>A p.G4452D Missense 74/79 - 2
2-169995795-C-T c.13354G>A p.G4452S Missense 74/79 - 1
2-169995797-G-A c.13352C>T p.T4451I Missense 74/79 - 1
2-169995799-C-G c.13350G>C p.R4450S Missense 74/79 - 1
2-169995803-C-T c.13346G>A p.R4449K Missense 74/79 - 1
2-169995809-T-C c.13340A>G p.H4447R Missense 74/79 - 1
2-169995812-A-C c.13337T>G p.F4446C Missense 74/79 - 1
2-169995814-G-A c.13335C>T p.F4445= Synonymous 74/79 - 1
2-169995815-A-G c.13334T>C p.F4445S Missense 74/79 - 1
2-169995821-G-A c.13328C>T p.A4443V Missense 74/79 - 4
2-169995825-T-C c.13324A>G p.I4442V Missense 74/79 - 1
2-169995834-GC-G c.13315del p.A4439Lfs*26 Frameshift 74/79 - 1
2-169995836-C-A c.13313G>T p.G4438V Missense 74/79 - 1
2-169995843-C-T c.13306G>A p.V4436I Missense 74/79 - 2
2-169995846-C-T c.13303G>A p.V4435I Missense 74/79 - 2
2-169995847-G-A c.13302C>T p.I4434= Synonymous 74/79 - 9
2-169995847-G-C c.13302C>G p.I4434M Missense 74/79 - 1
2-169995849-T-C c.13300A>G p.I4434V Missense 74/79 - 2
2-169995853-G-C c.13296C>G p.L4432= Synonymous 74/79 - 2
2-169995860-G-A c.13289C>T p.T4430I Missense 74/79 - 2
2-169995860-G-T c.13289C>A p.T4430K Missense 74/79 - 2
2-169995864-A-G c.13285T>C p.L4429= Synonymous 74/79 - 1
2-169995867-G-T c.13282C>A p.L4428M Missense 74/79 - 1
2-169995875-A-C c.13274T>G p.V4425G Missense 74/79 - 1
2-169995876-C-T c.13273G>A p.V4425I Missense 74/79 - 1
2-169995879-C-T c.13270G>A p.A4424T Missense 74/79 - 2
2-169995880-G-A c.13269C>T p.T4423= Synonymous 74/79 - 1
2-169996055-G-A c.13265C>T p.T4422I Missense 73/79 - 2
2-169996058-C-T c.13262G>A p.G4421E Missense 73/79 - 1
2-169996061-G-A c.13259C>T p.P4420L Missense 73/79 - 5
2-169996062-G-A c.13258C>T p.P4420S Missense 73/79 - 2
2-169996064-G-A c.13256C>T p.S4419F Missense 73/79 - 5
2-169996064-G-T c.13256C>A p.S4419Y Missense 73/79 - 1
2-169996069-G-A c.13251C>T p.G4417= Synonymous 73/79 - 1
2-169996069-G-C c.13251C>G p.G4417= Synonymous 73/79 - 1
2-169996069-G-T c.13251C>A p.G4417= Synonymous 73/79 - 1
2-169996070-C-G c.13250G>C p.G4417A Missense 73/79 - 3
2-169996070-C-T c.13250G>A p.G4417D Missense 73/79 - 13
2-169996076-G-A c.13244C>T p.S4415L Missense 73/79 - 2
2-169996081-C-T c.13239G>A p.A4413= Synonymous 73/79 - 2
2-169996082-G-A c.13238C>T p.A4413V Missense 73/79 - 5
2-169996084-C-A c.13236G>T p.M4412I Missense 73/79 - 1
2-169996089-C-T c.13231G>A p.E4411K Missense 73/79 - 1
2-169996101-C-G c.13219G>C p.G4407R Missense 73/79 - 1
2-169996101-C-T c.13219G>A p.G4407R Missense 73/79 - 1
2-169996104-T-A c.13216A>T p.T4406S Missense 73/79 - 1
2-169996105-G-A c.13215C>T p.Y4405= Synonymous 73/79 - 1
2-169996109-C-T c.13211G>A p.G4404D Missense 73/79 - 3
2-169996110-C-T c.13210G>A p.G4404S Missense 73/79 - 6
2-169996113-T-C c.13207A>G p.S4403G Missense 73/79 - 3
2-169996120-C-A c.13200G>T p.K4400N Missense 73/79 - 1
2-169996123-G-A c.13200-3C>T - IntronicSNV - 72/78 1
2-169996158-T-A c.13200-38A>T - IntronicSNV - 72/78 1
2-169996183-T-C c.13200-63A>G - IntronicSNV - 72/78 2
2-169996654-C-T c.13199+311G>A - IntronicSNV - 72/78 1
2-169996929-A-G c.13199+36T>C - IntronicSNV - 72/78 1
2-169996941-T-C c.13199+24A>G - IntronicSNV - 72/78 1
2-169996966-T-C c.13198A>G p.K4400E Missense 72/79 - 2
2-169996971-T-C c.13193A>G p.K4398R Missense 72/79 - 2
2-169996971-T-G c.13193A>C p.K4398T Missense 72/79 - 1
2-169996974-G-A c.13190C>T p.P4397L Missense 72/79 - 2
2-169996978-G-A c.13186C>T p.L4396F Missense 72/79 - 1
2-169996980-T-C c.13184A>G p.D4395G Missense 72/79 - 1
2-169996981-C-T c.13183G>A p.D4395N Missense 72/79 - 1
2-169996983-G-A c.13181C>T p.T4394I Missense 72/79 - 1
2-169996985-C-G c.13179G>C p.E4393D Missense 72/79 - 1
2-169996987-C-T c.13177G>A p.E4393K Missense 72/79 - 2
2-169996990-C-A c.13174G>T p.D4392Y Missense 72/79 - 1
2-169996995-T-C c.13169A>G p.Y4390C Missense 72/79 - 1
2-169996996-A-G c.13168T>C p.Y4390H Missense 72/79 - 2
2-169996997-G-T c.13167C>A p.C4389* Nonsense 72/79 - 3
2-169997004-C-T c.13160G>A p.G4387E Missense 72/79 - 3
2-169997005-C-T c.13159G>A p.G4387R Missense 72/79 - 2
2-169997007-CC-TT c.13156_13157delinsAA p.G4386K Missense 72/79 - 1
2-169997008-C-T c.13156G>A p.G4386R Missense 72/79 - 3
2-169997009-G-A c.13155C>T p.H4385= Synonymous 72/79 - 2
2-169997009-G-T c.13155C>A p.H4385Q Missense 72/79 - 1
2-169997010-T-C c.13154A>G p.H4385R Missense 72/79 - 2
2-169997012-C-A c.13152G>T p.M4384I Missense 72/79 - 1
2-169997012-C-G c.13152G>C p.M4384I Missense 72/79 - 1
2-169997012-C-T c.13152G>A p.M4384I Missense 72/79 - 1
2-169997014-T-A c.13150A>T p.M4384L Missense 72/79 - 1
2-169997014-T-C c.13150A>G p.M4384V Missense 72/79 - 1
2-169997014-T-G c.13150A>C p.M4384L Missense 72/79 - 1
2-169997020-T-C c.13144A>G p.R4382G Missense 72/79 - 2
2-169997022-C-CT c.13141_13142insA p.C4381* Nonsense 72/79 - 1
2-169997023-A-AG c.13140_13141insC p.C4381Lfs*12 Frameshift 72/79 - 2
2-169997023-A-AT c.13140dup p.C4381Mfs*12 Frameshift 72/79 - 1
2-169997025-G-A c.13139C>T p.P4380L Missense 72/79 - 1
2-169997025-G-T c.13139C>A p.P4380Q Missense 72/79 - 2
2-169997026-G-C c.13138C>G p.P4380A Missense 72/79 - 1
2-169997026-G-T c.13138C>A p.P4380T Missense 72/79 - 1
2-169997028-G-C c.13136C>G p.P4379R Missense 72/79 - 1
2-169997029-G-A c.13135C>T p.P4379S Missense 72/79 - 1
2-169997029-G-C c.13135C>G p.P4379A Missense 72/79 - 1
2-169997031-G-A c.13133C>T p.P4378L Missense 72/79 - 2
2-169997031-G-C c.13133C>G p.P4378R Missense 72/79 - 1
2-169997031-G-T c.13133C>A p.P4378H Missense 72/79 - 1
2-169997024-TG-T c.13139del p.P4380Hfs*46 Frameshift 72/79 - 10
2-169997024-T-TG c.13139dup p.C4381Mfs*12 Frameshift 72/79 - 14
2-169997034-A-G c.13130T>C p.L4377P Missense 72/79 - 1
2-169997035-G-C c.13129C>G p.L4377V Missense 72/79 - 1
2-169997036-G-T c.13128C>A p.N4376K Missense 72/79 - 2
2-169997038-T-C c.13126A>G p.N4376D Missense 72/79 - 1
2-169997040-A-C c.13124T>G p.I4375S Missense 72/79 - 1
2-169997044-G-A c.13120C>T p.P4374S Missense 72/79 - 1
2-169997044-G-C c.13120C>G p.P4374A Missense 72/79 - 1
2-169997050-C-A c.13114G>T p.E4372* Nonsense 72/79 - 1
2-169997050-C-G c.13114G>C p.E4372Q Missense 72/79 - 1
2-169997050-C-T c.13114G>A p.E4372K Missense 72/79 - 14
2-169997051-G-A c.13113C>T p.I4371= Synonymous 72/79 - 30
2-169997051-G-T c.13113C>A p.I4371= Synonymous 72/79 - 22
2-169997053-T-C c.13111A>G p.I4371V Missense 72/79 - 5
2-169997053-T-G c.13111A>C p.I4371L Missense 72/79 - 1
2-169997055-G-A c.13109C>T p.A4370V Missense 72/79 - 1
2-169997055-G-C c.13109C>G p.A4370G Missense 72/79 - 1
2-169999152-G-C c.13108+32C>G - IntronicSNV - 71/78 1
2-169999196-C-A c.13096G>T p.E4366* Nonsense 71/79 - 1
2-169999196-C-G c.13096G>C p.E4366Q Missense 71/79 - 1
2-169999201-G-A c.13091C>T p.T4364I Missense 71/79 - 1
2-169999202-T-C c.13090A>G p.T4364A Missense 71/79 - 1
2-169999204-C-T c.13088G>A p.S4363N Missense 71/79 - 1
2-169999206-C-A c.13086G>T p.G4362= Synonymous 71/79 - 1
2-169999206-C-G c.13086G>C p.G4362= Synonymous 71/79 - 1
2-169999206-C-T c.13086G>A p.G4362= Synonymous 71/79 - 1
2-169999211-C-T c.13081G>A p.E4361K Missense 71/79 - 3
2-169999216-A-C c.13076T>G p.F4359C Missense 71/79 - 1
2-169999224-G-T c.13068C>A p.G4356= Synonymous 71/79 - 1
2-169999225-C-G c.13067G>C p.G4356A Missense 71/79 - 1
2-169999228-T-C c.13064A>G p.Q4355R Missense 71/79 - 1
2-169999230-G-C c.13062C>G p.P4354= Synonymous 71/79 - 1
2-169999235-A-G c.13057T>C p.C4353R Missense 71/79 - 3
2-169999242-G-A c.13050C>T p.S4350= Synonymous 71/79 - 1
2-169999248-T-G c.13044A>C p.G4348= Synonymous 71/79 - 1
2-169999249-C-T c.13043G>A p.G4348E Missense 71/79 - 2
2-169999253-C-G c.13039G>C p.G4347R Missense 71/79 - 1
2-169999253-C-T c.13039G>A p.G4347R Missense 71/79 - 1
2-169999254-A-G c.13038T>C p.P4346= Synonymous 71/79 - 1
2-169999260-C-A c.13032G>T p.L4344= Synonymous 71/79 - 1
2-169999260-C-G c.13032G>C p.L4344= Synonymous 71/79 - 1
2-169999260-C-T c.13032G>A p.L4344= Synonymous 71/79 - 1
2-169999262-G-A c.13030C>T p.L4344= Synonymous 71/79 - 1
2-169999282-A-G c.13010T>C p.I4337T Missense 71/79 - 2
2-169999284-C-A c.13008G>T p.Q4336H Missense 71/79 - 3
2-169999284-C-G c.13008G>C p.Q4336H Missense 71/79 - 2
2-169999286-G-C c.13006C>G p.Q4336E Missense 71/79 - 2
2-169999294-A-G c.12998T>C p.L4333P Missense 71/79 - 1
2-169999295-G-T c.12997C>A p.L4333I Missense 71/79 - 1
2-169999300-G-A c.12992C>T p.P4331L Missense 71/79 - 2
2-169999303-A-T c.12989T>A p.V4330E Missense 71/79 - 1
2-169999423-G-A c.12989-120C>T - IntronicSNV - 70/78 1
2-169999715-A-G c.12989-412T>C - IntronicSNV - 70/78 1
2-170000522-C-A c.12989-1219G>T - IntronicSNV - 70/78 1
2-170000888-A-C c.12988+1369T>G - IntronicSNV - 70/78 1
2-170000894-A-C c.12988+1363T>G - IntronicSNV - 70/78 1
2-170000900-A-C c.12988+1357T>G - IntronicSNV - 70/78 1
2-170001938-T-C c.12988+319A>G - IntronicSNV - 70/78 1
2-170002061-A-T c.12988+196T>A - IntronicSNV - 70/78 1
2-170002083-G-T c.12988+174C>A - IntronicSNV - 70/78 1
2-170002230-G-T c.12988+27C>A - IntronicSNV - 70/78 1
2-170002257-C-T c.12988G>A p.V4330M Missense 70/79 - 4
2-170002265-T-A c.12980A>T p.N4327I Missense 70/79 - 2
2-170002265-T-C c.12980A>G p.N4327S Missense 70/79 - 5
2-170002268-T-C c.12977A>G p.Y4326C Missense 70/79 - 2
2-170002270-T-A c.12975A>T p.R4325S Missense 70/79 - 1
2-170002270-T-G c.12975A>C p.R4325S Missense 70/79 - 1
2-170002273-G-A c.12972C>T p.L4324= Synonymous 70/79 - 1
2-170002274-A-G c.12971T>C p.L4324P Missense 70/79 - 1
2-170002278-G-A c.12967C>T p.Q4323* Nonsense 70/79 - 3
2-170002285-G-T c.12960C>A p.I4320= Synonymous 70/79 - 1
2-170002287-T-C c.12958A>G p.I4320V Missense 70/79 - 2
2-170002289-C-T c.12956G>A p.R4319Q Missense 70/79 - 1
2-170002290-G-A c.12955C>T p.R4319* Nonsense 70/79 - 12
2-170002295-T-C c.12950A>G p.Q4317R Missense 70/79 - 1
2-170002296-G-C c.12949C>G p.Q4317E Missense 70/79 - 1
2-170002297-A-C c.12948T>G p.T4316= Synonymous 70/79 - 1
2-170002297-A-G c.12948T>C p.T4316= Synonymous 70/79 - 1
2-170002297-A-T c.12948T>A p.T4316= Synonymous 70/79 - 2
2-170002305-A-T c.12940T>A p.W4314R Missense 70/79 - 2
2-170002307-G-C c.12938C>G p.P4313R Missense 70/79 - 2
2-170002308-G-C c.12937C>G p.P4313A Missense 70/79 - 1
2-170002317-C-T c.12928G>A p.V4310I Missense 70/79 - 1
2-170002319-A-T c.12926T>A p.L4309Q Missense 70/79 - 1
2-170002321-C-A c.12924G>T p.T4308= Synonymous 70/79 - 1
2-170002321-C-G c.12924G>C p.T4308= Synonymous 70/79 - 1
2-170002321-C-T c.12924G>A p.T4308= Synonymous 70/79 - 2
2-170002322-G-A c.12923C>T p.T4308M Missense 70/79 - 3
2-170002327-C-G c.12918G>C p.E4306D Missense 70/79 - 1
2-170002328-T-A c.12917A>T p.E4306V Missense 70/79 - 1
2-170002329-C-G c.12916G>C p.E4306Q Missense 70/79 - 1
2-170002329-C-T c.12916G>A p.E4306K Missense 70/79 - 5
2-170002332-T-C c.12913A>G p.K4305E Missense 70/79 - 1
2-170002333-C-G c.12912G>C p.K4304N Missense 70/79 - 1
2-170002336-T-A c.12909A>T p.G4303= Synonymous 70/79 - 1
2-170002336-T-C c.12909A>G p.G4303= Synonymous 70/79 - 1
2-170002336-T-G c.12909A>C p.G4303= Synonymous 70/79 - 1
2-170002337-C-T c.12908G>A p.G4303E Missense 70/79 - 4
2-170002340-T-C c.12905A>G p.Q4302R Missense 70/79 - 1
2-170002343-C-T c.12902G>A p.G4301E Missense 70/79 - 6
2-170002344-C-A c.12901G>T p.G4301W Missense 70/79 - 2
2-170002344-C-G c.12901G>C p.G4301R Missense 70/79 - 1
2-170002347-A-T c.12898T>A p.F4300I Missense 70/79 - 2
2-170002349-T-A c.12896A>T p.K4299I Missense 70/79 - 1
2-170002349-T-G c.12896A>C p.K4299T Missense 70/79 - 1
2-170002350-T-A c.12895A>T p.K4299* Nonsense 70/79 - 1
2-170002356-G-T c.12889C>A p.Q4297K Missense 70/79 - 1
2-170002357-T-A c.12888A>T p.K4296N Missense 70/79 - 1
2-170002357-T-G c.12888A>C p.K4296N Missense 70/79 - 1
2-170002360-C-T c.12885G>A p.W4295* Nonsense 70/79 - 1
2-170002361-C-T c.12884G>A p.W4295* Nonsense 70/79 - 1
2-170002362-A-G c.12883T>C p.W4295R Missense 70/79 - 1
2-170002365-C-T c.12880G>A p.V4294I Missense 70/79 - 1
2-170002366-T-A c.12879A>T p.E4293D Missense 70/79 - 1
2-170002367-T-G c.12878A>C p.E4293A Missense 70/79 - 1
2-170002368-C-G c.12877G>C p.E4293Q Missense 70/79 - 2
2-170002370-C-T c.12875G>A p.G4292E Missense 70/79 - 3
2-170002372-C-A c.12873G>T p.K4291N Missense 70/79 - 5
2-170002372-C-G c.12873G>C p.K4291N Missense 70/79 - 1
2-170002372-C-T c.12873G>A p.K4291= Synonymous 70/79 - 1
2-170002373-T-C c.12872A>G p.K4291R Missense 70/79 - 2
2-170002377-C-T c.12868G>A p.E4290K Missense 70/79 - 5
2-170002385-A-G c.12860T>C p.I4287T Missense 70/79 - 2
2-170002386-T-C c.12859A>G p.I4287V Missense 70/79 - 2
2-170002390-G-A c.12855C>T p.Y4285= Synonymous 70/79 - 1
2-170002392-A-G c.12853T>C p.Y4285H Missense 70/79 - 1
2-170002394-A-G c.12851T>C p.L4284S Missense 70/79 - 5
2-170002399-G-A c.12846C>T p.D4282= Synonymous 70/79 - 1
2-170002399-G-T c.12846C>A p.D4282E Missense 70/79 - 1
2-170002404-C-G c.12841G>C p.E4281Q Missense 70/79 - 1
2-170002408-G-A c.12837C>T p.I4279= Synonymous 70/79 - 1
2-170002413-C-T c.12832G>A p.D4278N Missense 70/79 - 1
2-170002414-C-A c.12831G>T p.L4277= Synonymous 70/79 - 1
2-170002414-C-G c.12831G>C p.L4277= Synonymous 70/79 - 1
2-170002414-C-T c.12831G>A p.L4277= Synonymous 70/79 - 1
2-170002416-G-A c.12829C>T p.L4277= Synonymous 70/79 - 1
2-170002417-G-C c.12828C>G p.S4276R Missense 70/79 - 3
2-170002417-G-T c.12828C>A p.S4276R Missense 70/79 - 1
2-170002419-T-G c.12826A>C p.S4276R Missense 70/79 - 1
2-170002421-T-C c.12824A>G p.Y4275C Missense 70/79 - 1
2-170002431-T-C c.12814A>G p.M4272V Missense 70/79 - 2
2-170002500-C-T c.12812-67G>A - IntronicSNV - 69/78 1
2-170003237-C-T c.12811+12G>A - IntronicSNV - 69/78 1
2-170003249-C-A c.12811G>T p.A4271S Missense 69/79 - 1
2-170003252-C-T c.12808G>A p.E4270K Missense 69/79 - 2
2-170003255-T-G c.12805A>C p.K4269Q Missense 69/79 - 1
2-170003257-G-T c.12803C>A p.A4268E Missense 69/79 - 1
2-170003261-T-C c.12799A>G p.I4267V Missense 69/79 - 1
2-170003264-C-T c.12796G>A p.V4266I Missense 69/79 - 1
2-170003268-C-T c.12792G>A p.R4264= Synonymous 69/79 - 1
2-170003273-C-G c.12787G>C p.D4263H Missense 69/79 - 1
2-170003275-G-C c.12785C>G p.T4262S Missense 69/79 - 1
2-170003276-T-A c.12784A>T p.T4262S Missense 69/79 - 1
2-170003277-C-T c.12783G>A p.G4261= Synonymous 69/79 - 1
2-170003278-C-T c.12782G>A p.G4261E Missense 69/79 - 1
2-170003287-T-A c.12773A>T p.K4258I Missense 69/79 - 2
2-170003287-T-C c.12773A>G p.K4258R Missense 69/79 - 1
2-170003291-T-C c.12769A>G p.I4257V Missense 69/79 - 1
2-170003297-C-G c.12763G>C p.E4255Q Missense 69/79 - 1
2-170003303-C-T c.12757G>A p.V4253I Missense 69/79 - 1
2-170003306-C-A c.12754G>T p.D4252Y Missense 69/79 - 1
2-170003306-C-T c.12754G>A p.D4252N Missense 69/79 - 2
2-170003307-C-A c.12753G>T p.E4251D Missense 69/79 - 1
2-170003307-C-G c.12753G>C p.E4251D Missense 69/79 - 1
2-170003308-T-C c.12752A>G p.E4251G Missense 69/79 - 3
2-170003309-C-T c.12751G>A p.E4251K Missense 69/79 - 2
2-170003310-C-T c.12750G>A p.K4250= Synonymous 69/79 - 3
2-170003313-G-A c.12747C>T p.F4249= Synonymous 69/79 - 1
2-170003318-C-A c.12742G>T p.D4248Y Missense 69/79 - 1
2-170003323-C-T c.12737G>A p.W4246* Nonsense 69/79 - 1
2-170003328-G-A c.12732C>T p.I4244= Synonymous 69/79 - 5
2-170003328-G-C c.12732C>G p.I4244M Missense 69/79 - 1
2-170003328-G-T c.12732C>A p.I4244= Synonymous 69/79 - 1
2-170003329-A-C c.12731T>G p.I4244S Missense 69/79 - 1
2-170003330-T-C c.12730A>G p.I4244V Missense 69/79 - 1
2-170003332-C-T c.12728G>A p.R4243Q Missense 69/79 - 13
2-170003334-G-A c.12726C>T p.D4242= Synonymous 69/79 - 2
2-170003335-T-C c.12725A>G p.D4242G Missense 69/79 - 8
2-170003339-T-A c.12721A>T p.N4241Y Missense 69/79 - 1
2-170003339-T-C c.12721A>G p.N4241D Missense 69/79 - 2
2-170003341-T-A c.12719A>T p.N4240I Missense 69/79 - 2
2-170003343-C-G c.12717G>C p.L4239F Missense 69/79 - 1
2-170003346-A-C c.12714T>G p.Y4238* Nonsense 69/79 - 2
2-170003346-A-T c.12714T>A p.Y4238* Nonsense 69/79 - 1
2-170003351-C-T c.12709G>A p.D4237N Missense 69/79 - 7
2-170003352-G-A c.12708C>T p.I4236= Synonymous 69/79 - 5
2-170003354-T-C c.12706A>G p.I4236V Missense 69/79 - 1
2-170003356-G-C c.12704C>G p.S4235C Missense 69/79 - 2
2-170003359-A-T c.12701T>A p.L4234H Missense 69/79 - 2
2-170003360-G-A c.12700C>T p.L4234F Missense 69/79 - 1
2-170003363-C-A c.12697G>T p.G4233C Missense 69/79 - 1
2-170003369-G-A c.12691C>T p.P4231S Missense 69/79 - 3
2-170003374-C-G c.12686G>C p.G4229A Missense 69/79 - 1
2-170003375-C-A c.12685G>T p.G4229C Missense 69/79 - 3
2-170003378-G-T c.12682C>A p.L4228I Missense 69/79 - 1
2-170003379-G-T c.12681C>A p.D4227E Missense 69/79 - 2
2-170003384-C-T c.12676G>A p.E4226K Missense 69/79 - 2
2-170003385-G-A c.12675C>T p.F4225= Synonymous 69/79 - 3
2-170003386-A-C c.12674T>G p.F4225C Missense 69/79 - 1
2-170003385-G-C c.12675C>G p.F4225L Missense 69/79 - 1
2-170003385-G-T c.12675C>A p.F4225L Missense 69/79 - 1
2-170003387-A-G c.12673T>C p.F4225L Missense 69/79 - 1
2-170003387-A-T c.12673T>A p.F4225I Missense 69/79 - 1
2-170003390-C-G c.12670G>C p.V4224L Missense 69/79 - 1
2-170003393-G-C c.12667C>G p.L4223V Missense 69/79 - 1
2-170003396-T-G c.12664A>C p.I4222L Missense 69/79 - 1
2-170003398-T-C c.12662A>G p.N4221S Missense 69/79 - 1
2-170003400-G-A c.12660C>T p.R4220= Synonymous 69/79 - 1
2-170003401-C-A c.12659G>T p.R4220L Missense 69/79 - 2
2-170003402-G-A c.12658C>T p.R4220C Missense 69/79 - 2
2-170003402-G-T c.12658C>A p.R4220S Missense 69/79 - 1
2-170003403-G-C c.12657C>G p.D4219E Missense 69/79 - 1
2-170003403-G-T c.12657C>A p.D4219E Missense 69/79 - 1
2-170003405-C-T c.12655G>A p.D4219N Missense 69/79 - 1
2-170003406-C-G c.12654G>C p.E4218D Missense 69/79 - 1
2-170003408-C-G c.12652G>C p.E4218Q Missense 69/79 - 1
2-170003410-C-G c.12650G>C p.G4217A Missense 69/79 - 1
2-170003411-C-T c.12649G>A p.G4217R Missense 69/79 - 4
2-170003415-C-A c.12645G>T p.M4215I Missense 69/79 - 1
2-170003418-C-A c.12642G>T p.W4214C Missense 69/79 - 1
2-170003418-C-T c.12642G>A p.W4214* Nonsense 69/79 - 2
2-170003419-C-T c.12641G>A p.W4214* Nonsense 69/79 - 3
2-170003423-C-G c.12637G>C p.A4213P Missense 69/79 - 1
2-170003427-C-A c.12633G>T p.E4211D Missense 69/79 - 1
2-170003427-C-G c.12633G>C p.E4211D Missense 69/79 - 1
2-170003429-C-A c.12631G>T p.E4211* Nonsense 69/79 - 1
2-170003429-C-T c.12631G>A p.E4211K Missense 69/79 - 1
2-170003430-G-A c.12630C>T p.I4210= Synonymous 69/79 - 5
2-170003430-G-T c.12630C>A p.I4210= Synonymous 69/79 - 2
2-170003432-T-C c.12628A>G p.I4210V Missense 69/79 - 1
2-170003432-T-G c.12628A>C p.I4210L Missense 69/79 - 70
2-170003439-T-C c.12621A>G p.E4207= Synonymous 69/79 - 1
2-170003441-C-G c.12619G>C p.E4207Q Missense 69/79 - 3
2-170003441-C-T c.12619G>A p.E4207K Missense 69/79 - 6
2-170003451-G-T c.12609C>A p.D4203E Missense 69/79 - 2
2-170003453-C-T c.12607G>A p.D4203N Missense 69/79 - 1
2-170003463-C-T c.12597G>A p.M4199I Missense 69/79 - 2
2-170003508-G-A c.12591-39C>T - IntronicSNV - 68/78 1
2-170003636-G-A c.12591-167C>T - IntronicSNV - 68/78 1
2-170003638-G-A c.12591-169C>T - IntronicSNV - 68/78 2
2-170007227-T-C c.12590+181A>G - IntronicSNV - 68/78 1
2-170007227-T-G c.12590+181A>C - IntronicSNV - 68/78 1
2-170007408-C-G c.12590G>C p.G4197A Missense 68/79 - 1
2-170007411-A-C c.12587T>G p.L4196R Missense 68/79 - 1
2-170007411-A-T c.12587T>A p.L4196Q Missense 68/79 - 1
2-170007412-G-T c.12586C>A p.L4196I Missense 68/79 - 4
2-170007416-G-A c.12582C>T p.P4194= Synonymous 68/79 - 2
2-170007416-G-C c.12582C>G p.P4194= Synonymous 68/79 - 2
2-170007416-G-T c.12582C>A p.P4194= Synonymous 68/79 - 2
2-170007418-G-A c.12580C>T p.P4194S Missense 68/79 - 1
2-170007424-C-A c.12574G>T p.V4192L Missense 68/79 - 1
2-170007425-A-T c.12573T>A p.A4191= Synonymous 68/79 - 1
2-170007426-G-A c.12572C>T p.A4191V Missense 68/79 - 1
2-170007427-C-T c.12571G>A p.A4191T Missense 68/79 - 2
2-170007430-T-C c.12568A>G p.I4190V Missense 68/79 - 1
2-170007433-C-G c.12565G>C p.A4189P Missense 68/79 - 1
2-170007434-A-G c.12564T>C p.A4188= Synonymous 68/79 - 1
2-170007436-C-T c.12562G>A p.A4188T Missense 68/79 - 1
2-170007439-G-T c.12559C>A p.P4187T Missense 68/79 - 4
2-170007448-G-T c.12550C>A p.L4184M Missense 68/79 - 1
2-170007449-G-A c.12549C>T p.D4183= Synonymous 68/79 - 1
2-170007453-G-A c.12545C>T p.T4182I Missense 68/79 - 4
2-170007454-T-C c.12544A>G p.T4182A Missense 68/79 - 1
2-170007463-G-T c.12535C>A p.L4179M Missense 68/79 - 1
2-170007472-T-C c.12526A>G p.R4176G Missense 68/79 - 1
2-170007474-T-G c.12524A>C p.Y4175S Missense 68/79 - 6
2-170007477-C-T c.12521G>A p.R4174K Missense 68/79 - 1
2-170007480-C-T c.12518G>A p.G4173E Missense 68/79 - 1
2-170007484-C-G c.12514G>C p.D4172H Missense 68/79 - 1
2-170007484-C-T c.12514G>A p.D4172N Missense 68/79 - 1
2-170007487-G-C c.12511C>G p.L4171V Missense 68/79 - 1
2-170007487-G-T c.12511C>A p.L4171I Missense 68/79 - 1
2-170007488-T-C c.12510A>G p.K4170= Synonymous 68/79 - 1
2-170007488-T-G c.12510A>C p.K4170N Missense 68/79 - 1
2-170007491-A-G c.12507T>C p.A4169= Synonymous 68/79 - 1
2-170007493-C-A c.12505G>T p.A4169S Missense 68/79 - 1
2-170007496-C-A c.12502G>T p.V4168L Missense 68/79 - 2
2-170007496-C-G c.12502G>C p.V4168L Missense 68/79 - 2
2-170007496-C-T c.12502G>A p.V4168M Missense 68/79 - 1
2-170007497-C-T c.12501G>A p.E4167= Synonymous 68/79 - 2
2-170007499-C-T c.12499G>A p.E4167K Missense 68/79 - 1
2-170007501-A-G c.12497T>C p.I4166T Missense 68/79 - 1
2-170007504-C-A c.12494G>T p.R4165L Missense 68/79 - 1
2-170007504-C-T c.12494G>A p.R4165H Missense 68/79 - 4
2-170007505-G-A c.12493C>T p.R4165C Missense 68/79 - 11
2-170007509-A-C c.12489T>G p.N4163K Missense 68/79 - 1
2-170007512-C-A c.12486G>T p.K4162N Missense 68/79 - 1
2-170007513-T-C c.12485A>G p.K4162R Missense 68/79 - 2
2-170007514-T-G c.12484A>C p.K4162Q Missense 68/79 - 2
2-170007517-C-T c.12481G>A p.V4161I Missense 68/79 - 1
2-170007520-C-G c.12478G>C p.D4160H Missense 68/79 - 1
2-170007522-G-A c.12476C>T p.S4159L Missense 68/79 - 1
2-170007523-A-G c.12475T>C p.S4159P Missense 68/79 - 1
2-170007528-T-C c.12470A>G p.Y4157C Missense 68/79 - 1
2-170007532-T-C c.12466A>G p.I4156V Missense 68/79 - 1
2-170007534-T-G c.12464A>C p.H4155P Missense 68/79 - 1
2-170008222-A-C c.12462-686T>G - IntronicSNV - 67/78 3
2-170008386-G-A c.12462-850C>T - IntronicSNV - 67/78 1
2-170008506-T-A c.12461+803A>T - IntronicSNV - 67/78 7
2-170008506-T-C c.12461+803A>G - IntronicSNV - 67/78 7
2-170008644-A-G c.12461+665T>C - IntronicSNV - 67/78 1
2-170009307-A-G c.12461+2T>C - IntronicSNV - 67/78 1
2-170009309-C-T c.12461G>A p.R4154K Missense 67/79 - 1
2-170009310-T-C c.12460A>G p.R4154G Missense 67/79 - 1
2-170009314-A-G c.12456T>C p.V4152= Synonymous 67/79 - 4
2-170009315-A-G c.12455T>C p.V4152A Missense 67/79 - 1
2-170009315-A-T c.12455T>A p.V4152D Missense 67/79 - 2
2-170009317-C-G c.12453G>C p.W4151C Missense 67/79 - 1
2-170009317-C-T c.12453G>A p.W4151* Nonsense 67/79 - 1
2-170009318-C-T c.12452G>A p.W4151* Nonsense 67/79 - 1
2-170009322-C-A c.12448G>T p.D4150Y Missense 67/79 - 2
2-170009322-C-T c.12448G>A p.D4150N Missense 67/79 - 1
2-170009328-C-A c.12442G>T p.A4148S Missense 67/79 - 2
2-170009328-C-T c.12442G>A p.A4148T Missense 67/79 - 2
2-170009329-T-C c.12441A>G p.I4147M Missense 67/79 - 1
2-170009330-A-T c.12440T>A p.I4147K Missense 67/79 - 1
2-170009333-C-T c.12437G>A p.G4146E Missense 67/79 - 5
2-170009332-TC-T c.12437del p.G4146Efs*2 Frameshift 67/79 - 1
2-170009334-C-T c.12436G>A p.G4146R Missense 67/79 - 2
2-170009344-C-T c.12426G>A p.M4142I Missense 67/79 - 1
2-170009345-A-C c.12425T>G p.M4142R Missense 67/79 - 1
2-170009349-C-A c.12421G>T p.V4141L Missense 67/79 - 3
2-170009349-C-G c.12421G>C p.V4141L Missense 67/79 - 3
2-170009349-C-T c.12421G>A p.V4141I Missense 67/79 - 4
2-170009350-G-A c.12420C>T p.Y4140= Synonymous 67/79 - 2
2-170009362-C-A c.12408G>T p.L4136= Synonymous 67/79 - 3
2-170009362-C-G c.12408G>C p.L4136= Synonymous 67/79 - 3
2-170009362-C-T c.12408G>A p.L4136= Synonymous 67/79 - 5
2-170009364-G-A c.12406C>T p.L4136= Synonymous 67/79 - 3
2-170009366-T-C c.12404A>G p.D4135G Missense 67/79 - 1
2-170009369-A-G c.12401T>C p.V4134A Missense 67/79 - 1
2-170009373-C-T c.12397G>A p.E4133K Missense 67/79 - 3
2-170009374-C-T c.12396G>A p.Q4132= Synonymous 67/79 - 1
2-170009376-G-C c.12394C>G p.Q4132E Missense 67/79 - 1
2-170009381-A-G c.12389T>C p.L4130P Missense 67/79 - 5
2-170009382-G-A c.12388C>T p.L4130F Missense 67/79 - 2
2-170009382-G-T c.12388C>A p.L4130I Missense 67/79 - 2
2-170009385-T-C c.12385A>G p.N4129D Missense 67/79 - 1
2-170009385-T-G c.12385A>C p.N4129H Missense 67/79 - 1
2-170009390-C-T c.12380G>A p.R4127H Missense 67/79 - 14
2-170009391-G-A c.12379C>T p.R4127C Missense 67/79 - 6
2-170009391-G-T c.12379C>A p.R4127S Missense 67/79 - 8
2-170009392-G-A c.12378C>T p.G4126= Synonymous 67/79 - 1
2-170009394-C-T c.12376G>A p.G4126S Missense 67/79 - 2
2-170009395-G-A c.12375C>T p.S4125= Synonymous 67/79 - 2
2-170009395-G-C c.12375C>G p.S4125= Synonymous 67/79 - 1
2-170009395-G-T c.12375C>A p.S4125= Synonymous 67/79 - 1
2-170009398-T-A c.12372A>T p.E4124D Missense 67/79 - 2
2-170009404-G-A c.12366C>T p.N4122= Synonymous 67/79 - 1
2-170009413-G-T c.12357C>A p.Y4119* Nonsense 67/79 - 1
2-170009417-G-A c.12353C>T p.A4118V Missense 67/79 - 1
2-170009420-C-T c.12350G>A p.R4117H Missense 67/79 - 3
2-170009421-G-A c.12349C>T p.R4117C Missense 67/79 - 6
2-170009427-T-A c.12343A>T p.I4115F Missense 67/79 - 1
2-170009427-T-C c.12343A>G p.I4115V Missense 67/79 - 2
2-170009432-C-T c.12338G>A p.G4113D Missense 67/79 - 2
2-170009433-C-A c.12337G>T p.G4113C Missense 67/79 - 3
2-170009434-A-T c.12336T>A p.F4112L Missense 67/79 - 1
2-170009438-C-A c.12332G>T p.R4111M Missense 67/79 - 1
2-170009448-C-T c.12322G>A p.E4108K Missense 67/79 - 1
2-170009449-C-T c.12321G>A p.G4107= Synonymous 67/79 - 3
2-170009450-C-T c.12320G>A p.G4107E Missense 67/79 - 7
2-170009451-C-G c.12319G>C p.G4107R Missense 67/79 - 1
2-170009451-C-T c.12319G>A p.G4107R Missense 67/79 - 2
2-170009453-C-T c.12317G>A p.R4106Q Missense 67/79 - 3
2-170009454-G-A c.12316C>T p.R4106* Nonsense 67/79 - 2
2-170009454-G-T c.12316C>A p.R4106= Synonymous 67/79 - 1
2-170009456-A-G c.12314T>C p.V4105A Missense 67/79 - 1
2-170009457-C-A c.12313G>T p.V4105L Missense 67/79 - 1
2-170009457-C-T c.12313G>A p.V4105M Missense 67/79 - 1
2-170009461-G-A c.12309C>T p.Y4103= Synonymous 67/79 - 2
2-170009474-C-T c.12296G>A p.S4099N Missense 67/79 - 1
2-170010897-C-T c.12295+73G>A - IntronicSNV - 66/78 1
2-170010957-A-C c.12295+13T>G - IntronicSNV - 66/78 1
2-170010973-G-A c.12292C>T p.L4098F Missense 66/79 - 1
2-170010974-G-A c.12291C>T p.G4097= Synonymous 66/79 - 1
2-170010974-G-T c.12291C>A p.G4097= Synonymous 66/79 - 2
2-170010975-C-T c.12290G>A p.G4097D Missense 66/79 - 1
2-170010976-C-T c.12289G>A p.G4097S Missense 66/79 - 1
2-170010978-A-G c.12287T>C p.I4096T Missense 66/79 - 2
2-170010979-T-C c.12286A>G p.I4096V Missense 66/79 - 2
2-170010981-T-A c.12284A>T p.D4095V Missense 66/79 - 1
2-170010982-C-T c.12283G>A p.D4095N Missense 66/79 - 1
2-170010983-C-G c.12282G>C p.K4094N Missense 66/79 - 1
2-170010983-C-T c.12282G>A p.K4094= Synonymous 66/79 - 2
2-170010985-T-A c.12280A>T p.K4094* Nonsense 66/79 - 29
2-170010985-T-C c.12280A>G p.K4094E Missense 66/79 - 82
2-170010987-G-C c.12278C>G p.P4093R Missense 66/79 - 1
2-170010991-C-T c.12274G>A p.D4092N Missense 66/79 - 1
2-170010999-T-A c.12266A>T p.Y4089F Missense 66/79 - 1
2-170011001-A-C c.12264T>G p.D4088E Missense 66/79 - 1
2-170011001-A-G c.12264T>C p.D4088= Synonymous 66/79 - 1
2-170011003-C-T c.12262G>A p.D4088N Missense 66/79 - 6
2-170011008-G-T c.12257C>A p.A4086D Missense 66/79 - 4
2-170011012-G-A c.12253C>T p.Q4085* Nonsense 66/79 - 5
2-170011017-T-C c.12248A>G p.Y4083C Missense 66/79 - 1
2-170011021-C-A c.12244G>T p.E4082* Nonsense 66/79 - 1
2-170011021-C-T c.12244G>A p.E4082K Missense 66/79 - 6
2-170011022-C-T c.12243G>A p.E4081= Synonymous 66/79 - 2
2-170011024-C-A c.12241G>T p.E4081* Nonsense 66/79 - 1
2-170011026-T-C c.12239A>G p.D4080G Missense 66/79 - 1
2-170011030-G-A c.12235C>T p.Q4079* Nonsense 66/79 - 4
2-170011036-A-T c.12229T>A p.Y4077N Missense 66/79 - 2
2-170011038-T-G c.12227A>C p.E4076A Missense 66/79 - 4
2-170011039-C-T c.12226G>A p.E4076K Missense 66/79 - 2
2-170011041-G-A c.12224C>T p.S4075L Missense 66/79 - 3
2-170011043-G-C c.12222C>G p.F4074L Missense 66/79 - 2
2-170011043-G-T c.12222C>A p.F4074L Missense 66/79 - 2
2-170011045-A-G c.12220T>C p.F4074L Missense 66/79 - 2
2-170011047-C-A c.12218G>T p.R4073M Missense 66/79 - 1
2-170011047-C-T c.12218G>A p.R4073K Missense 66/79 - 1
2-170011049-C-T c.12216G>A p.E4072= Synonymous 66/79 - 2
2-170011051-C-G c.12214G>C p.E4072Q Missense 66/79 - 1
2-170011051-C-T c.12214G>A p.E4072K Missense 66/79 - 3
2-170011053-G-A c.12212C>T p.S4071F Missense 66/79 - 3
2-170011056-G-C c.12209C>G p.S4070* Nonsense 66/79 - 2
2-170011056-G-T c.12209C>A p.S4070* Nonsense 66/79 - 1
2-170011061-A-T c.12204T>A p.N4068K Missense 66/79 - 1
2-170011062-T-A c.12203A>T p.N4068I Missense 66/79 - 1
2-170011071-C-G c.12194G>C p.R4065P Missense 66/79 - 1
2-170011071-C-T c.12194G>A p.R4065Q Missense 66/79 - 4
2-170011072-G-A c.12193C>T p.R4065* Nonsense 66/79 - 15
2-170011077-C-T c.12188G>A p.R4063Q Missense 66/79 - 4
2-170011078-G-A c.12187C>T p.R4063* Nonsense 66/79 - 2
2-170011078-G-C c.12187C>G p.R4063G Missense 66/79 - 1
2-170011078-G-T c.12187C>A p.R4063= Synonymous 66/79 - 1
2-170011079-G-A c.12186C>T p.V4062= Synonymous 66/79 - 2
2-170011082-A-C c.12183T>G p.N4061K Missense 66/79 - 1
2-170011082-A-G c.12183T>C p.N4061= Synonymous 66/79 - 2
2-170011083-T-C c.12182A>G p.N4061S Missense 66/79 - 2
2-170011087-C-A c.12178G>T p.D4060Y Missense 66/79 - 1
2-170011089-G-A c.12176C>T p.P4059L Missense 66/79 - 3
2-170011091-CAG-AAA c.12172_12174delinsTTT p.L4058F Missense 66/79 - 1
2-170011094-T-A c.12171A>T p.L4057= Synonymous 66/79 - 1
2-170011094-T-C c.12171A>G p.L4057= Synonymous 66/79 - 1
2-170011094-T-G c.12171A>C p.L4057= Synonymous 66/79 - 1
2-170011096-G-A c.12169C>T p.L4057= Synonymous 66/79 - 1
2-170011097-C-A c.12168G>T p.L4056F Missense 66/79 - 6
2-170011097-C-G c.12168G>C p.L4056F Missense 66/79 - 8
2-170011100-C-A c.12165G>T p.L4055F Missense 66/79 - 2
2-170011100-C-G c.12165G>C p.L4055F Missense 66/79 - 2
2-170011101-A-G c.12164T>C p.L4055S Missense 66/79 - 1
2-170011104-G-A c.12161C>T p.P4054L Missense 66/79 - 3
2-170011104-GG-AA c.12160_12161delinsTT p.P4054F Missense 66/79 - 2
2-170011105-G-A c.12160C>T p.P4054S Missense 66/79 - 4
2-170011107-G-A c.12158C>T p.S4053F Missense 66/79 - 1
2-170011107-G-T c.12158C>A p.S4053Y Missense 66/79 - 4
2-170011109-G-C c.12156C>G p.S4052R Missense 66/79 - 2
2-170011109-G-T c.12156C>A p.S4052R Missense 66/79 - 2
2-170011111-T-G c.12154A>C p.S4052R Missense 66/79 - 2
2-170011110-C-T c.12155G>A p.S4052N Missense 66/79 - 1
2-170011458-T-A c.12152-345A>T - IntronicSNV - 65/78 2
2-170011458-T-C c.12152-345A>G - IntronicSNV - 65/78 2
2-170012199-T-C c.12151+585A>G - IntronicSNV - 65/78 2
2-170012784-C-A c.12151G>T p.G4051C Missense 65/79 - 1
2-170012784-C-G c.12151G>C p.G4051R Missense 65/79 - 1
2-170012785-C-A c.12150G>T p.E4050D Missense 65/79 - 2
2-170012785-C-G c.12150G>C p.E4050D Missense 65/79 - 1
2-170012787-C-G c.12148G>C p.E4050Q Missense 65/79 - 1
2-170012787-C-T c.12148G>A p.E4050K Missense 65/79 - 1
2-170012789-G-T c.12146C>A p.A4049D Missense 65/79 - 1
2-170012798-C-T c.12137G>A p.R4046Q Missense 65/79 - 12
2-170012799-G-A c.12136C>T p.R4046* Nonsense 65/79 - 3
2-170012801-T-C c.12134A>G p.K4045R Missense 65/79 - 1
2-170012804-C-A c.12131G>T p.G4044V Missense 65/79 - 1
2-170012804-C-T c.12131G>A p.G4044E Missense 65/79 - 2
2-170012809-G-A c.12126C>T p.R4042= Synonymous 65/79 - 1
2-170012809-G-C c.12126C>G p.R4042= Synonymous 65/79 - 1
2-170012809-G-T c.12126C>A p.R4042= Synonymous 65/79 - 1
2-170012810-C-A c.12125G>T p.R4042L Missense 65/79 - 2
2-170012810-C-T c.12125G>A p.R4042H Missense 65/79 - 3
2-170012811-G-A c.12124C>T p.R4042C Missense 65/79 - 2
2-170012811-G-T c.12124C>A p.R4042S Missense 65/79 - 1
2-170012812-G-C c.12123C>G p.D4041E Missense 65/79 - 1
2-170012812-G-T c.12123C>A p.D4041E Missense 65/79 - 3
2-170012813-T-G c.12122A>C p.D4041A Missense 65/79 - 2
2-170012815-A-T c.12120T>A p.S4040R Missense 65/79 - 2
2-170012816-C-T c.12119G>A p.S4040N Missense 65/79 - 1
2-170012818-C-A c.12117G>T p.M4039I Missense 65/79 - 5
2-170012818-C-G c.12117G>C p.M4039I Missense 65/79 - 7
2-170012818-C-T c.12117G>A p.M4039I Missense 65/79 - 6
2-170012820-T-A c.12115A>T p.M4039L Missense 65/79 - 2
2-170012824-C-A c.12111G>T p.T4037= Synonymous 65/79 - 1
2-170012824-C-G c.12111G>C p.T4037= Synonymous 65/79 - 1
2-170012824-C-T c.12111G>A p.T4037= Synonymous 65/79 - 2
2-170012825-G-A c.12110C>T p.T4037M Missense 65/79 - 2
2-170012827-G-A c.12108C>T p.F4036= Synonymous 65/79 - 1
2-170012830-G-A c.12105C>T p.G4035= Synonymous 65/79 - 1
2-170012830-G-C c.12105C>G p.G4035= Synonymous 65/79 - 1
2-170012830-G-T c.12105C>A p.G4035= Synonymous 65/79 - 1
2-170012837-G-A c.12098C>T p.A4033V Missense 65/79 - 1
2-170012841-A-G c.12094T>C p.C4032R Missense 65/79 - 2
2-170012842-G-A c.12093C>T p.V4031= Synonymous 65/79 - 1
2-170012842-G-C c.12093C>G p.V4031= Synonymous 65/79 - 1
2-170012842-G-T c.12093C>A p.V4031= Synonymous 65/79 - 2
2-170012847-A-G c.12088T>C p.C4030R Missense 65/79 - 1
2-170012849-T-C c.12086A>G p.E4029G Missense 65/79 - 1
2-170012850-C-A c.12085G>T p.E4029* Nonsense 65/79 - 1
2-170012850-C-G c.12085G>C p.E4029Q Missense 65/79 - 3
2-170012853-A-G c.12082T>C p.Y4028H Missense 65/79 - 4
2-170012858-C-T c.12077G>A p.G4026E Missense 65/79 - 3
2-170012859-C-T c.12076G>A p.G4026R Missense 65/79 - 3
2-170012862-T-G c.12073A>C p.K4025Q Missense 65/79 - 1
2-170012863-G-A c.12072C>T p.T4024= Synonymous 65/79 - 1
2-170012864-G-T c.12071C>A p.T4024N Missense 65/79 - 1
2-170012868-T-G c.12067A>C p.N4023H Missense 65/79 - 1
2-170012871-T-C c.12064A>G p.R4022G Missense 65/79 - 1
2-170012873-C-A c.12062G>T p.C4021F Missense 65/79 - 2
2-170012873-C-T c.12062G>A p.C4021Y Missense 65/79 - 2
2-170012874-A-T c.12061T>A p.C4021S Missense 65/79 - 1
2-170012876-T-C c.12059A>G p.H4020R Missense 65/79 - 1
2-170012877-G-A c.12058C>T p.H4020Y Missense 65/79 - 1
2-170012882-G-A c.12053C>T p.P4018L Missense 65/79 - 8
2-170012883-G-A c.12052C>T p.P4018S Missense 65/79 - 1
2-170012891-C-T c.12044G>A p.G4015E Missense 65/79 - 5
2-170012894-A-G c.12041T>C p.F4014S Missense 65/79 - 1
2-170012894-A-T c.12041T>A p.F4014Y Missense 65/79 - 1
2-170012897-T-C c.12038A>G p.Q4013R Missense 65/79 - 1
2-170012911-G-A c.12024C>T p.I4008= Synonymous 65/79 - 1
2-170012912-A-G c.12023T>C p.I4008T Missense 65/79 - 1
2-170012912-A-T c.12023T>A p.I4008N Missense 65/79 - 1
2-170012913-T-C c.12022A>G p.I4008V Missense 65/79 - 1
2-170013838-T-A c.12019+43A>T - IntronicSNV - 64/78 1
2-170013838-T-C c.12019+43A>G - IntronicSNV - 64/78 1
2-170013882-T-C c.12018A>G p.L4006= Synonymous 64/79 - 1
2-170013884-G-T c.12016C>A p.L4006I Missense 64/79 - 1
2-170013887-A-G c.12013T>C p.C4005R Missense 64/79 - 1
2-170013888-G-A c.12012C>T p.S4004= Synonymous 64/79 - 4
2-170013889-G-A c.12011C>T p.S4004F Missense 64/79 - 2
2-170013889-G-C c.12011C>G p.S4004C Missense 64/79 - 1
2-170013889-G-T c.12011C>A p.S4004Y Missense 64/79 - 1
2-170013892-G-A c.12008C>T p.T4003I Missense 64/79 - 2
2-170013892-G-C c.12008C>G p.T4003S Missense 64/79 - 1
2-170013893-T-A c.12007A>T p.T4003S Missense 64/79 - 2
2-170013895-C-A c.12005G>T p.R4002I Missense 64/79 - 2
2-170013897-G-A c.12003C>T p.D4001= Synonymous 64/79 - 1
2-170013897-G-C c.12003C>G p.D4001E Missense 64/79 - 1
2-170013902-A-T c.11998T>A p.F4000I Missense 64/79 - 3
2-170013904-A-C c.11996T>G p.V3999G Missense 64/79 - 13
2-170013905-C-T c.11995G>A p.V3999I Missense 64/79 - 1
2-170013907-T-C c.11993A>G p.N3998S Missense 64/79 - 1
2-170013910-G-A c.11990C>T p.T3997I Missense 64/79 - 1
2-170013911-T-G c.11989A>C p.T3997P Missense 64/79 - 1
2-170013914-C-A c.11986G>T p.E3996* Nonsense 64/79 - 2
2-170013914-C-G c.11986G>C p.E3996Q Missense 64/79 - 2
2-170013914-C-T c.11986G>A p.E3996K Missense 64/79 - 10
2-170013915-G-A c.11985C>T p.F3995= Synonymous 64/79 - 6
2-170013915-G-T c.11985C>A p.F3995L Missense 64/79 - 2
2-170013923-C-A c.11977G>T p.A3993S Missense 64/79 - 1
2-170013923-C-T c.11977G>A p.A3993T Missense 64/79 - 1
2-170013930-G-A c.11970C>T p.S3990= Synonymous 64/79 - 4
2-170013930-G-C c.11970C>G p.S3990= Synonymous 64/79 - 1
2-170013930-G-T c.11970C>A p.S3990= Synonymous 64/79 - 1
2-170013936-G-A c.11964C>T p.I3988= Synonymous 64/79 - 2
2-170013936-G-T c.11964C>A p.I3988= Synonymous 64/79 - 2
2-170013940-A-G c.11960T>C p.F3987S Missense 64/79 - 1
2-170013944-C-G c.11956G>C p.G3986R Missense 64/79 - 3
2-170013944-C-T c.11956G>A p.G3986R Missense 64/79 - 3
2-170013947-C-G c.11953G>C p.G3985R Missense 64/79 - 2
2-170013947-C-T c.11953G>A p.G3985R Missense 64/79 - 2
2-170013950-C-T c.11950G>A p.E3984K Missense 64/79 - 4
2-170013962-T-C c.11938A>G p.T3980A Missense 64/79 - 1
2-170013964-C-A c.11936G>T p.C3979F Missense 64/79 - 1
2-170013967-T-C c.11933A>G p.N3978S Missense 64/79 - 1
2-170013972-C-A c.11928G>T p.E3976D Missense 64/79 - 1
2-170013974-C-G c.11926G>C p.E3976Q Missense 64/79 - 1
2-170013974-C-T c.11926G>A p.E3976K Missense 64/79 - 6
2-170013975-G-A c.11925C>T p.C3975= Synonymous 64/79 - 2
2-170013986-C-A c.11914G>T p.E3972* Nonsense 64/79 - 1
2-170013985-TCAG-T c.11912_11914del p.A3971del InFrameDeletion 64/79 - 1
2-170013988-G-GTT c.11911_11912insAA p.A3971Efs*13 Frameshift 64/79 - 1
2-170013989-C-T c.11911G>A p.A3971T Missense 64/79 - 1
2-170013994-G-T c.11906C>A p.T3969K Missense 64/79 - 1
2-170013995-T-C c.11905A>G p.T3969A Missense 64/79 - 1
2-170014001-C-A c.11899G>T p.E3967* Nonsense 64/79 - 2
2-170014004-T-C c.11896A>G p.K3966E Missense 64/79 - 1
2-170014006-C-T c.11894G>A p.G3965E Missense 64/79 - 10
2-170014007-C-G c.11893G>C p.G3965R Missense 64/79 - 1
2-170014007-C-T c.11893G>A p.G3965R Missense 64/79 - 1
2-170014008-T-G c.11892A>C p.K3964N Missense 64/79 - 1
2-170014010-T-C c.11890A>G p.K3964E Missense 64/79 - 2
2-170014010-T-TC c.11889_11890insG p.K3964Efs*9 SpliceAcceptorInsertion 64/79 - 1
2-170014010-T-TG c.11889_11890insC p.K3964Qfs*9 SpliceAcceptorInsertion 64/79 - 1
2-170014010-T-TA c.11889dup p.K3964* SpliceAcceptorInsertion 64/79 - 1
2-170014011-A-T c.11889T>A p.N3963K Missense 64/79 - 1
2-170014573-C-T c.11888-561G>A - IntronicSNV - 63/78 1
2-170016750-A-G c.11887+2232T>C - IntronicSNV - 63/78 1
2-170016750-A-T c.11887+2232T>A - IntronicSNV - 63/78 1
2-170017895-C-T c.11887+1087G>A - IntronicSNV - 63/78 1
2-170018934-G-C c.11887+48C>G - IntronicSNV - 63/78 1
2-170018935-T-C c.11887+47A>G - IntronicSNV - 63/78 1
2-170018989-C-A c.11880G>T p.L3960= Synonymous 63/79 - 1
2-170018989-C-G c.11880G>C p.L3960= Synonymous 63/79 - 1
2-170018989-C-T c.11880G>A p.L3960= Synonymous 63/79 - 1
2-170018990-A-C c.11879T>G p.L3960R Missense 63/79 - 1
2-170018990-A-T c.11879T>A p.L3960Q Missense 63/79 - 2
2-170018991-G-A c.11878C>T p.L3960= Synonymous 63/79 - 2
2-170018991-G-C c.11878C>G p.L3960V Missense 63/79 - 1
2-170018997-C-G c.11872G>C p.D3958H Missense 63/79 - 1
2-170018997-C-T c.11872G>A p.D3958N Missense 63/79 - 3
2-170018998-G-A c.11871C>T p.S3957= Synonymous 63/79 - 1
2-170018998-G-C c.11871C>G p.S3957= Synonymous 63/79 - 1
2-170018998-G-T c.11871C>A p.S3957= Synonymous 63/79 - 1
2-170018999-G-A c.11870C>T p.S3957F Missense 63/79 - 2
2-170019001-C-A c.11868G>T p.W3956C Missense 63/79 - 4
2-170019001-C-G c.11868G>C p.W3956C Missense 63/79 - 3
2-170019003-A-G c.11866T>C p.W3956R Missense 63/79 - 1
2-170019009-C-G c.11860G>C p.G3954R Missense 63/79 - 1
2-170019017-T-A c.11852A>T p.D3951V Missense 63/79 - 2
2-170019018-C-A c.11851G>T p.D3951Y Missense 63/79 - 2
2-170019018-C-T c.11851G>A p.D3951N Missense 63/79 - 1
2-170019019-G-A c.11850C>T p.A3950= Synonymous 63/79 - 2
2-170019022-A-G c.11847T>C p.D3949= Synonymous 63/79 - 3
2-170019024-C-T c.11845G>A p.D3949N Missense 63/79 - 2
2-170019027-C-G c.11842G>C p.D3948H Missense 63/79 - 1
2-170019032-A-G c.11837T>C p.V3946A Missense 63/79 - 3
2-170019035-T-C c.11834A>G p.N3945S Missense 63/79 - 2
2-170019038-T-C c.11831A>G p.D3944G Missense 63/79 - 1
2-170019041-T-C c.11828A>G p.H3943R Missense 63/79 - 2
2-170019042-G-A c.11827C>T p.H3943Y Missense 63/79 - 2
2-170019044-G-A c.11825C>T p.P3942L Missense 63/79 - 3
2-170019045-G-A c.11824C>T p.P3942S Missense 63/79 - 3
2-170019048-T-C c.11821A>G p.I3941V Missense 63/79 - 2
2-170019053-T-C c.11816A>G p.H3939R Missense 63/79 - 1
2-170019056-C-A c.11813G>T p.G3938V Missense 63/79 - 2
2-170019057-C-T c.11812G>A p.G3938R Missense 63/79 - 1
2-170019059-T-C c.11810A>G p.N3937S Missense 63/79 - 1
2-170019060-T-C c.11809A>G p.N3937D Missense 63/79 - 3
2-170019061-G-A c.11808C>T p.G3936= Synonymous 63/79 - 1
2-170019061-G-C c.11808C>G p.G3936= Synonymous 63/79 - 1
2-170019061-G-T c.11808C>A p.G3936= Synonymous 63/79 - 1
2-170019062-C-A c.11807G>T p.G3936V Missense 63/79 - 1
2-170019063-C-T c.11806G>A p.G3936S Missense 63/79 - 1
2-170019068-T-C c.11801A>G p.K3934R Missense 63/79 - 1
2-170019071-T-C c.11798A>G p.Y3933C Missense 63/79 - 1
2-170019075-C-T c.11794G>A p.E3932K Missense 63/79 - 4
2-170019083-G-A c.11786C>T p.T3929I Missense 63/79 - 2
2-170019084-T-A c.11785A>T p.T3929S Missense 63/79 - 2
2-170019084-T-C c.11785A>G p.T3929A Missense 63/79 - 1
2-170019085-A-T c.11784T>A p.C3928* Nonsense 63/79 - 1
2-170019090-G-T c.11779C>A p.P3927T Missense 63/79 - 1
2-170019096-G-A c.11773C>T p.P3925S Missense 63/79 - 5
2-170019101-G-A c.11768C>T p.P3923L Missense 63/79 - 8
2-170019108-T-C c.11761A>G p.R3921G Missense 63/79 - 2
2-170019115-A-C c.11759-5T>G - IntronicSNV - 62/78 1
2-170021904-G-A c.11758+538C>T - IntronicSNV - 62/78 1
2-170022378-T-C c.11758+64A>G - IntronicSNV - 62/78 1
2-170022443-G-C c.11757C>G p.H3919Q Missense 62/79 - 2
2-170022443-G-T c.11757C>A p.H3919Q Missense 62/79 - 1
2-170022444-T-A c.11756A>T p.H3919L Missense 62/79 - 1
2-170022445-G-T c.11755C>A p.H3919N Missense 62/79 - 2
2-170022448-C-T c.11752G>A p.E3918K Missense 62/79 - 1
2-170022454-T-A c.11746A>T p.T3916S Missense 62/79 - 1
2-170022454-T-C c.11746A>G p.T3916A Missense 62/79 - 1
2-170022457-C-T c.11743G>A p.E3915K Missense 62/79 - 2
2-170022460-C-G c.11740G>C p.D3914H Missense 62/79 - 1
2-170022462-G-T c.11738C>A p.T3913N Missense 62/79 - 1
2-170022465-C-T c.11735G>A p.G3912E Missense 62/79 - 4
2-170022466-C-T c.11734G>A p.G3912R Missense 62/79 - 2
2-170022468-T-A c.11732A>T p.D3911V Missense 62/79 - 1
2-170022469-C-A c.11731G>T p.D3911Y Missense 62/79 - 1
2-170022471-C-A c.11729G>T p.G3910V Missense 62/79 - 2
2-170022472-C-G c.11728G>C p.G3910R Missense 62/79 - 1
2-170022479-A-T c.11721T>A p.D3907E Missense 62/79 - 3
2-170022483-A-G c.11717T>C p.V3906A Missense 62/79 - 1
2-170022486-C-A c.11714G>T p.G3905V Missense 62/79 - 5
2-170022486-C-T c.11714G>A p.G3905D Missense 62/79 - 3
2-170022489-T-C c.11711A>G p.N3904S Missense 62/79 - 2
2-170022493-A-C c.11707T>G p.C3903G Missense 62/79 - 1
2-170022496-C-A c.11704G>T p.V3902L Missense 62/79 - 2
2-170022500-A-C c.11700T>G p.H3900Q Missense 62/79 - 1
2-170022501-T-C c.11699A>G p.H3900R Missense 62/79 - 2
2-170022507-T-A c.11693A>T p.Y3898F Missense 62/79 - 1
2-170022510-A-G c.11690T>C p.I3897T Missense 62/79 - 1
2-170022511-T-C c.11689A>G p.I3897V Missense 62/79 - 1
2-170022511-T-G c.11689A>C p.I3897L Missense 62/79 - 1
2-170022512-G-A c.11688C>T p.C3896= Synonymous 62/79 - 1
2-170022516-C-T c.11684G>A p.R3895H Missense 62/79 - 1
2-170022517-G-A c.11683C>T p.R3895C Missense 62/79 - 5
2-170022517-G-C c.11683C>G p.R3895G Missense 62/79 - 1
2-170022518-A-C c.11682T>G p.N3894K Missense 62/79 - 5
2-170022518-A-T c.11682T>A p.N3894K Missense 62/79 - 3
2-170022519-T-C c.11681A>G p.N3894S Missense 62/79 - 2
2-170022520-T-A c.11680A>T p.N3894Y Missense 62/79 - 1
2-170022520-T-C c.11680A>G p.N3894D Missense 62/79 - 1
2-170022526-C-T c.11674G>A p.D3892N Missense 62/79 - 1
2-170022531-C-A c.11669G>T p.R3890L Missense 62/79 - 1
2-170022531-C-T c.11669G>A p.R3890Q Missense 62/79 - 3
2-170022532-G-A c.11668C>T p.R3890W Missense 62/79 - 5
2-170022533-G-A c.11667C>T p.F3889= Synonymous 62/79 - 1
2-170022537-C-A c.11663G>T p.R3888L Missense 62/79 - 1
2-170022537-C-T c.11663G>A p.R3888H Missense 62/79 - 6
2-170022538-G-A c.11662C>T p.R3888C Missense 62/79 - 4
2-170022539-G-C c.11661C>G p.N3887K Missense 62/79 - 7
2-170022539-G-T c.11661C>A p.N3887K Missense 62/79 - 10
2-170022543-G-A c.11657C>T p.P3886L Missense 62/79 - 2
2-170022545-T-A c.11655A>T p.S3885= Synonymous 62/79 - 1
2-170022545-T-C c.11655A>G p.S3885= Synonymous 62/79 - 1
2-170022545-T-G c.11655A>C p.S3885= Synonymous 62/79 - 1
2-170022550-T-C c.11650A>G p.N3884D Missense 62/79 - 2
2-170022552-C-T c.11648G>A p.C3883Y Missense 62/79 - 3
2-170022556-G-A c.11644C>T p.P3882S Missense 62/79 - 2
2-170022561-T-C c.11639A>G p.D3880G Missense 62/79 - 1
2-170022562-C-G c.11638G>C p.D3880H Missense 62/79 - 3
2-170022562-C-T c.11638G>A p.D3880N Missense 62/79 - 1
2-170022563-C-G c.11637G>C p.L3879F Missense 62/79 - 1
2-170024992-A-C c.11635+57T>G - IntronicSNV - 61/78 1
2-170025031-C-T c.11635+18G>A - IntronicSNV - 61/78 1
2-170025061-G-A c.11623C>T p.L3875F Missense 61/79 - 1
2-170025072-G-C c.11612C>G p.S3871* Nonsense 61/79 - 1
2-170025079-C-T c.11605G>A p.D3869N Missense 61/79 - 4
2-170025080-G-A c.11604C>T p.G3868= Synonymous 61/79 - 6
2-170025080-G-C c.11604C>G p.G3868= Synonymous 61/79 - 5
2-170025080-G-T c.11604C>A p.G3868= Synonymous 61/79 - 5
2-170025081-C-A c.11603G>T p.G3868V Missense 61/79 - 1
2-170025082-C-T c.11602G>A p.G3868S Missense 61/79 - 2
2-170025083-A-G c.11601T>C p.C3867= Synonymous 61/79 - 23
2-170025093-T-A c.11591A>T p.D3864V Missense 61/79 - 1
2-170025094-C-A c.11590G>T p.D3864Y Missense 61/79 - 1
2-170025094-C-T c.11590G>A p.D3864N Missense 61/79 - 3
2-170025095-G-A c.11589C>T p.G3863= Synonymous 61/79 - 3
2-170025095-G-C c.11589C>G p.G3863= Synonymous 61/79 - 1
2-170025095-G-T c.11589C>A p.G3863= Synonymous 61/79 - 2
2-170025107-C-T c.11577G>A p.W3859* Nonsense 61/79 - 1
2-170025108-C-T c.11576G>A p.W3859* Nonsense 61/79 - 1
2-170025112-A-G c.11572T>C p.Y3858H Missense 61/79 - 3
2-170025116-C-T c.11568G>A p.P3856= Synonymous 61/79 - 2
2-170025117-G-A c.11567C>T p.P3856L Missense 61/79 - 1
2-170025118-G-A c.11566C>T p.P3856S Missense 61/79 - 4
2-170025119-G-A c.11565C>T p.I3855= Synonymous 61/79 - 2
2-170025119-G-C c.11565C>G p.I3855M Missense 61/79 - 1
2-170025120-A-G c.11564T>C p.I3855T Missense 61/79 - 1
2-170025121-T-C c.11563A>G p.I3855V Missense 61/79 - 1
2-170025122-A-G c.11562T>C p.C3854= Synonymous 61/79 - 1
2-170025129-T-C c.11555A>G p.H3852R Missense 61/79 - 3
2-170025130-G-A c.11554C>T p.H3852Y Missense 61/79 - 1
2-170025130-G-C c.11554C>G p.H3852D Missense 61/79 - 2
2-170025133-T-A c.11551A>T p.N3851Y Missense 61/79 - 3
2-170025134-T-A c.11550A>T p.K3850N Missense 61/79 - 1
2-170025134-T-G c.11550A>C p.K3850N Missense 61/79 - 1
2-170025131-GT-G c.11552del p.N3851Tfs*132 Frameshift 61/79 - 1
2-170025142-C-A c.11542G>T p.E3848* Nonsense 61/79 - 1
2-170025142-C-T c.11542G>A p.E3848K Missense 61/79 - 8
2-170025143-G-A c.11541C>T p.F3847= Synonymous 61/79 - 10
2-170025147-A-G c.11537T>C p.M3846T Missense 61/79 - 1
2-170025147-A-T c.11537T>A p.M3846K Missense 61/79 - 1
2-170025150-G-A c.11534C>T p.T3845I Missense 61/79 - 1
2-170025156-TG-T c.11527del p.Q3843Rfs*140 Frameshift 61/79 - 1
2-170025158-G-C c.11526C>G p.C3842W Missense 61/79 - 1
2-170025159-C-A c.11525G>T p.C3842F Missense 61/79 - 1
2-170025160-A-G c.11524T>C p.C3842R Missense 61/79 - 3
2-170025162-T-C c.11522A>G p.Y3841C Missense 61/79 - 1
2-170025166-C-T c.11518G>A p.A3840T Missense 61/79 - 1
2-170025168-C-G c.11516G>C p.G3839A Missense 61/79 - 1
2-170025175-G-A c.11509C>T p.P3837S Missense 61/79 - 1
2-170025178-A-G c.11506T>C p.F3836L Missense 61/79 - 1
2-170025180-C-T c.11504G>A p.R3835H Missense 61/79 - 3
2-170025181-G-A c.11503C>T p.R3835C Missense 61/79 - 3
2-170025181-G-T c.11503C>A p.R3835S Missense 61/79 - 1
2-170025340-C-T c.11498-154G>A - IntronicSNV - 60/78 8
2-170026211-C-T c.11497+1G>A - IntronicSNV - 60/78 1
2-170026212-G-A c.11497C>T p.P3833S Missense 60/79 - 2
2-170026217-T-C c.11492A>G p.D3831G Missense 60/79 - 1
2-170026217-T-G c.11492A>C p.D3831A Missense 60/79 - 1
2-170026218-C-A c.11491G>T p.D3831Y Missense 60/79 - 1
2-170026220-G-A c.11489C>T p.A3830V Missense 60/79 - 1
2-170026220-G-T c.11489C>A p.A3830D Missense 60/79 - 1
2-170026224-C-T c.11485G>A p.E3829K Missense 60/79 - 3
2-170026226-T-C c.11483A>G p.D3828G Missense 60/79 - 3
2-170026232-G-A c.11477C>T p.A3826V Missense 60/79 - 6
2-170026233-C-T c.11476G>A p.A3826T Missense 60/79 - 1
2-170026236-C-T c.11473G>A p.D3825N Missense 60/79 - 1
2-170026237-C-T c.11472G>A p.L3824= Synonymous 60/79 - 1
2-170026236-CCAAA-C c.11469_11472del p.C3823Wfs*159 Frameshift 60/79 - 6
2-170026247-G-C c.11462C>G p.A3821G Missense 60/79 - 1
2-170026248-C-A c.11461G>T p.A3821S Missense 60/79 - 1
2-170026248-C-T c.11461G>A p.A3821T Missense 60/79 - 1
2-170026249-G-A c.11460C>T p.S3820= Synonymous 60/79 - 3
2-170026249-G-C c.11460C>G p.S3820= Synonymous 60/79 - 2
2-170026249-G-T c.11460C>A p.S3820= Synonymous 60/79 - 2
2-170026251-A-G c.11458T>C p.S3820P Missense 60/79 - 1
2-170026253-C-A c.11456G>T p.G3819V Missense 60/79 - 3
2-170026258-G-A c.11451C>T p.C3817= Synonymous 60/79 - 2
2-170026264-CAG-GAT c.11443_11445delinsATC p.L3815I Missense 60/79 - 1
2-170026265-A-G c.11444T>C p.L3815P Missense 60/79 - 1
2-170026266-G-T c.11443C>A p.L3815M Missense 60/79 - 1
2-170026271-C-A c.11438G>T p.S3813I Missense 60/79 - 1
2-170026272-T-C c.11437A>G p.S3813G Missense 60/79 - 3
2-170026275-G-A c.11434C>T p.H3812Y Missense 60/79 - 2
2-170026278-C-T c.11431G>A p.V3811I Missense 60/79 - 1
2-170026283-T-C c.11426A>G p.H3809R Missense 60/79 - 1
2-170026284-G-A c.11425C>T p.H3809Y Missense 60/79 - 2
2-170026284-G-C c.11425C>G p.H3809D Missense 60/79 - 2
2-170026286-C-T c.11423G>A p.G3808E Missense 60/79 - 4
2-170026287-C-T c.11422G>A p.G3808R Missense 60/79 - 1
2-170026290-T-C c.11419A>G p.S3807G Missense 60/79 - 3
2-170026292-G-C c.11417C>G p.T3806R Missense 60/79 - 1
2-170026292-G-T c.11417C>A p.T3806K Missense 60/79 - 1
2-170026293-T-C c.11416A>G p.T3806A Missense 60/79 - 1
2-170026297-C-T c.11412G>A p.Q3804= Synonymous 60/79 - 2
2-170026299-G-T c.11410C>A p.Q3804K Missense 60/79 - 2
2-170026300-A-C c.11409T>G p.F3803L Missense 60/79 - 1
2-170026300-A-T c.11409T>A p.F3803L Missense 60/79 - 1
2-170026302-A-G c.11407T>C p.F3803L Missense 60/79 - 1
2-170026304-T-C c.11405A>G p.Y3802C Missense 60/79 - 2
2-170026308-C-T c.11401G>A p.E3801K Missense 60/79 - 1
2-170026315-G-A c.11394C>T p.C3798= Synonymous 60/79 - 1
2-170026319-G-A c.11390C>T p.T3797I Missense 60/79 - 1
2-170026321-C-A c.11388G>T p.R3796S Missense 60/79 - 1
2-170026321-C-G c.11388G>C p.R3796S Missense 60/79 - 1
2-170026322-C-T c.11387G>A p.R3796K Missense 60/79 - 1
2-170026323-CTCATCT-C c.11381_11386del p.E3794_R3796delinsG SpliceAcceptorDeletion 60/79 - 1
2-170026324-C-A c.11385G>T p.M3795I Missense 60/79 - 1
2-170026324-C-G c.11385G>C p.M3795I Missense 60/79 - 1
2-170026324-C-T c.11385G>A p.M3795I Missense 60/79 - 4
2-170026325-A-G c.11384T>C p.M3795T Missense 60/79 - 1
2-170026328-T-A c.11381A>T p.E3794V Missense 60/79 - 1
2-170026596-C-T c.11381-268G>A - IntronicSNV - 59/78 2
2-170026767-T-A c.11380+294A>T - IntronicSNV - 59/78 1
2-170027039-A-G c.11380+22T>C - IntronicSNV - 59/78 2
2-170027061-C-T c.11380G>A p.E3794K Missense 59/79 - 1
2-170027063-C-G c.11378G>C p.C3793S Missense 59/79 - 1
2-170027064-A-T c.11377T>A p.C3793S Missense 59/79 - 1
2-170027067-C-T c.11374G>A p.D3792N Missense 59/79 - 1
2-170027068-C-A c.11373G>T p.R3791= Synonymous 59/79 - 1
2-170027068-CC-AT c.11372_11373delinsAT p.R3791H Missense 59/79 - 1
2-170027069-C-A c.11372G>T p.R3791L Missense 59/79 - 1
2-170027069-C-T c.11372G>A p.R3791Q Missense 59/79 - 3
2-170027070-G-A c.11371C>T p.R3791W Missense 59/79 - 7
2-170027070-G-C c.11371C>G p.R3791G Missense 59/79 - 1
2-170027071-T-C c.11370A>G p.E3790= Synonymous 59/79 - 4
2-170027073-C-T c.11368G>A p.E3790K Missense 59/79 - 3
2-170027075-T-A c.11366A>T p.D3789V Missense 59/79 - 1
2-170027076-C-A c.11365G>T p.D3789Y Missense 59/79 - 2
2-170027076-C-T c.11365G>A p.D3789N Missense 59/79 - 1
2-170027078-G-A c.11363C>T p.S3788L Missense 59/79 - 2
2-170027078-G-C c.11363C>G p.S3788* Nonsense 59/79 - 1
2-170027080-G-T c.11361C>A p.N3787K Missense 59/79 - 1
2-170027081-T-C c.11360A>G p.N3787S Missense 59/79 - 3
2-170027084-T-C c.11357A>G p.D3786G Missense 59/79 - 1
2-170027086-C-T c.11355G>A p.G3785= Synonymous 59/79 - 1
2-170027087-C-G c.11354G>C p.G3785A Missense 59/79 - 1
2-170027091-A-G c.11350T>C p.C3784R Missense 59/79 - 8
2-170027093-T-A c.11348A>T p.D3783V Missense 59/79 - 1
2-170027094-C-A c.11347G>T p.D3783Y Missense 59/79 - 1
2-170027094-C-T c.11347G>A p.D3783N Missense 59/79 - 9
2-170027096-T-A c.11345A>T p.N3782I Missense 59/79 - 1
2-170027096-T-C c.11345A>G p.N3782S Missense 59/79 - 3
2-170027100-A-C c.11341T>G p.Y3781D Missense 59/79 - 1
2-170027101-A-G c.11340T>C p.H3780= Synonymous 59/79 - 2
2-170027104-G-A c.11337C>T p.D3779= Synonymous 59/79 - 1
2-170027105-T-C c.11336A>G p.D3779G Missense 59/79 - 1
2-170027106-C-T c.11335G>A p.D3779N Missense 59/79 - 4
2-170027113-C-A c.11328G>T p.W3776C Missense 59/79 - 2
2-170027113-C-T c.11328G>A p.W3776* Nonsense 59/79 - 1
2-170027114-C-A c.11327G>T p.W3776L Missense 59/79 - 2
2-170027114-C-T c.11327G>A p.W3776* Nonsense 59/79 - 1
2-170027117-C-T c.11324G>A p.R3775Q Missense 59/79 - 6
2-170027120-G-A c.11321C>T p.S3774L Missense 59/79 - 1
2-170027123-G-A c.11318C>T p.P3773L Missense 59/79 - 1
2-170027124-G-A c.11317C>T p.P3773S Missense 59/79 - 9
2-170027127-T-A c.11314A>T p.I3772F Missense 59/79 - 1
2-170027127-T-G c.11314A>C p.I3772L Missense 59/79 - 1
2-170027130-A-G c.11311T>C p.C3771R Missense 59/79 - 3
2-170027132-T-C c.11309A>G p.Q3770R Missense 59/79 - 1
2-170027134-C-A c.11307G>T p.Q3769H Missense 59/79 - 1
2-170027134-C-T c.11307G>A p.Q3769= Synonymous 59/79 - 2
2-170027136-G-C c.11305C>G p.Q3769E Missense 59/79 - 1
2-170027136-G-T c.11305C>A p.Q3769K Missense 59/79 - 1
2-170027137-A-T c.11304T>A p.N3768K Missense 59/79 - 1
2-170027138-T-C c.11303A>G p.N3768S Missense 59/79 - 1
2-170027139-T-A c.11302A>T p.N3768Y Missense 59/79 - 2
2-170027142-C-T c.11299G>A p.V3767I Missense 59/79 - 1
2-170027147-C-T c.11294G>A p.R3765Q Missense 59/79 - 4
2-170027148-G-A c.11293C>T p.R3765* Nonsense 59/79 - 6
2-170027148-G-T c.11293C>A p.R3765= Synonymous 59/79 - 1
2-170027153-T-A c.11288A>T p.E3763V Missense 59/79 - 6
2-170027154-C-G c.11287G>C p.E3763Q Missense 59/79 - 1
2-170027154-C-T c.11287G>A p.E3763K Missense 59/79 - 3
2-170027155-G-C c.11286C>G p.S3762R Missense 59/79 - 2
2-170027155-G-T c.11286C>A p.S3762R Missense 59/79 - 3
2-170027157-T-G c.11284A>C p.S3762R Missense 59/79 - 2
2-170027157-T-C c.11284A>G p.S3762G Missense 59/79 - 1
2-170027159-T-C c.11282A>G p.E3761G Missense 59/79 - 1
2-170027160-C-T c.11281G>A p.E3761K Missense 59/79 - 2
2-170027162-G-C c.11279C>G p.T3760R Missense 59/79 - 1
2-170027165-C-A c.11276G>T p.C3759F Missense 59/79 - 1
2-170027171-C-A c.11270G>T p.R3757L Missense 59/79 - 2
2-170027171-C-T c.11270G>A p.R3757Q Missense 59/79 - 2
2-170027172-G-A c.11269C>T p.R3757W Missense 59/79 - 2
2-170027173-G-A c.11268C>T p.P3756= Synonymous 59/79 - 2
2-170027173-G-C c.11268C>G p.P3756= Synonymous 59/79 - 2
2-170027173-G-T c.11268C>A p.P3756= Synonymous 59/79 - 2
2-170027174-G-A c.11267C>T p.P3756L Missense 59/79 - 6
2-170027175-G-C c.11266C>G p.P3756A Missense 59/79 - 1
2-170028529-G-C c.11259C>G p.N3753K Missense 58/79 - 2
2-170028531-T-C c.11257A>G p.N3753D Missense 58/79 - 2
2-170028534-C-T c.11254G>A p.E3752K Missense 58/79 - 3
2-170028535-C-A c.11253G>T p.E3751D Missense 58/79 - 1
2-170028535-C-G c.11253G>C p.E3751D Missense 58/79 - 1
2-170028541-T-C c.11247A>G p.S3749= Synonymous 58/79 - 1
2-170028548-T-C c.11240A>G p.D3747G Missense 58/79 - 1
2-170028549-C-T c.11239G>A p.D3747N Missense 58/79 - 2
2-170028552-C-T c.11236G>A p.G3746R Missense 58/79 - 1
2-170028551-CCA-C c.11235_11236del p.C3745Wfs*3 Frameshift 58/79 - 1
2-170028554-C-G c.11234G>C p.C3745S Missense 58/79 - 1
2-170028555-A-T c.11233T>A p.C3745S Missense 58/79 - 1
2-170028564-G-T c.11224C>A p.Q3742K Missense 58/79 - 2
2-170028565-C-A c.11223G>T p.G3741= Synonymous 58/79 - 2
2-170028565-C-G c.11223G>C p.G3741= Synonymous 58/79 - 1
2-170028565-C-T c.11223G>A p.G3741= Synonymous 58/79 - 2
2-170028566-C-T c.11222G>A p.G3741E Missense 58/79 - 1
2-170028567-C-T c.11221G>A p.G3741R Missense 58/79 - 1
2-170028574-C-G c.11214G>C p.Q3738H Missense 58/79 - 1
2-170028581-C-T c.11207G>A p.R3736H Missense 58/79 - 2
2-170028582-G-A c.11206C>T p.R3736C Missense 58/79 - 10
2-170028584-A-G c.11204T>C p.L3735P Missense 58/79 - 1
2-170028585-G-A c.11203C>T p.L3735F Missense 58/79 - 1
2-170028585-G-C c.11203C>G p.L3735V Missense 58/79 - 1
2-170028586-A-C c.11202T>G p.P3734= Synonymous 58/79 - 1
2-170028586-A-G c.11202T>C p.P3734= Synonymous 58/79 - 1
2-170028586-A-T c.11202T>A p.P3734= Synonymous 58/79 - 1
2-170028587-G-A c.11201C>T p.P3734L Missense 58/79 - 5
2-170028588-G-A c.11200C>T p.P3734S Missense 58/79 - 1
2-170028588-G-T c.11200C>A p.P3734T Missense 58/79 - 1
2-170028593-C-A c.11195G>T p.C3732F Missense 58/79 - 2
2-170028593-C-T c.11195G>A p.C3732Y Missense 58/79 - 3
2-170028600-G-A c.11188C>T p.H3730Y Missense 58/79 - 5
2-170028611-C-A c.11177G>T p.R3726L Missense 58/79 - 2
2-170028611-C-T c.11177G>A p.R3726H Missense 58/79 - 3
2-170028612-G-A c.11176C>T p.R3726C Missense 58/79 - 5
2-170028612-G-T c.11176C>A p.R3726S Missense 58/79 - 1
2-170028615-A-T c.11173T>A p.F3725I Missense 58/79 - 1
2-170028618-C-A c.11170G>T p.D3724Y Missense 58/79 - 1
2-170028618-C-T c.11170G>A p.D3724N Missense 58/79 - 6
2-170028619-C-A c.11169G>T p.G3723= Synonymous 58/79 - 1
2-170028619-C-G c.11169G>C p.G3723= Synonymous 58/79 - 1
2-170028619-C-T c.11169G>A p.G3723= Synonymous 58/79 - 2
2-170028620-C-A c.11168G>T p.G3723V Missense 58/79 - 1
2-170028620-C-G c.11168G>C p.G3723A Missense 58/79 - 2
2-170028620-C-T c.11168G>A p.G3723E Missense 58/79 - 1
2-170028627-G-A c.11161C>T p.P3721S Missense 58/79 - 1
2-170028633-A-G c.11155T>C p.C3719R Missense 58/79 - 3
2-170028636-T-G c.11152A>C p.T3718P Missense 58/79 - 1
2-170028638-C-G c.11150G>C p.R3717T Missense 58/79 - 1
2-170028644-T-A c.11144A>T p.E3715V Missense 58/79 - 1
2-170028644-T-C c.11144A>G p.E3715G Missense 58/79 - 2
2-170029534-C-A c.11143+72G>T - IntronicSNV - 57/78 2
2-170029609-A-G c.11140T>C p.C3714R Missense 57/79 - 1
2-170029612-C-T c.11137G>A p.G3713S Missense 57/79 - 3
2-170029613-T-A c.11136A>T p.Q3712H Missense 57/79 - 2
2-170029618-C-A c.11131G>T p.E3711* Nonsense 57/79 - 1
2-170029618-C-T c.11131G>A p.E3711K Missense 57/79 - 1
2-170029621-C-T c.11128G>A p.D3710N Missense 57/79 - 6
2-170029623-C-T c.11126G>A p.S3709N Missense 57/79 - 2
2-170029625-G-C c.11124C>G p.N3708K Missense 57/79 - 1
2-170029625-G-T c.11124C>A p.N3708K Missense 57/79 - 1
2-170029629-T-A c.11120A>T p.D3707V Missense 57/79 - 2
2-170029632-C-A c.11117G>T p.R3706M Missense 57/79 - 1
2-170029635-C-A c.11114G>T p.C3705F Missense 57/79 - 1
2-170029642-C-T c.11107G>A p.D3703N Missense 57/79 - 1
2-170029648-C-G c.11101G>C p.G3701R Missense 57/79 - 2
2-170029648-C-T c.11101G>A p.G3701S Missense 57/79 - 1
2-170029650-T-C c.11099A>G p.N3700S Missense 57/79 - 2
2-170029651-T-C c.11098A>G p.N3700D Missense 57/79 - 3
2-170029657-C-T c.11092G>A p.V3698M Missense 57/79 - 9
2-170029658-G-A c.11091C>T p.A3697= Synonymous 57/79 - 1
2-170029658-G-C c.11091C>G p.A3697= Synonymous 57/79 - 1
2-170029658-G-T c.11091C>A p.A3697= Synonymous 57/79 - 1
2-170029659-G-A c.11090C>T p.A3697V Missense 57/79 - 2
2-170029661-C-T c.11088G>A p.W3696* Nonsense 57/79 - 1
2-170029662-C-T c.11087G>A p.W3696* Nonsense 57/79 - 1
2-170029666-T-G c.11083A>C p.K3695Q Missense 57/79 - 2
2-170029667-T-C c.11082A>G p.P3694= Synonymous 57/79 - 2
2-170029669-G-A c.11080C>T p.P3694S Missense 57/79 - 2
2-170029669-G-T c.11080C>A p.P3694T Missense 57/79 - 1
2-170029674-C-T c.11075G>A p.C3692Y Missense 57/79 - 4
2-170029677-C-T c.11072G>A p.R3691H Missense 57/79 - 2
2-170029678-G-A c.11071C>T p.R3691C Missense 57/79 - 4
2-170029679-G-A c.11070C>T p.Y3690= Synonymous 57/79 - 3
2-170029681-A-G c.11068T>C p.Y3690H Missense 57/79 - 1
2-170029682-A-G c.11067T>C p.N3689= Synonymous 57/79 - 1
2-170029686-G-A c.11063C>T p.T3688I Missense 57/79 - 1
2-170029689-T-C c.11060A>G p.K3687R Missense 57/79 - 1
2-170029690-T-C c.11059A>G p.K3687E Missense 57/79 - 2
2-170029693-A-G c.11056T>C p.C3686R Missense 57/79 - 2
2-170029696-T-G c.11053A>C p.S3685R Missense 57/79 - 1
2-170029697-G-A c.11052C>T p.F3684= Synonymous 57/79 - 2
2-170029697-G-C c.11052C>G p.F3684L Missense 57/79 - 1
2-170029697-G-T c.11052C>A p.F3684L Missense 57/79 - 1
2-170029702-C-T c.11047G>A p.E3683K Missense 57/79 - 5
2-170029704-G-C c.11045C>G p.T3682R Missense 57/79 - 1
2-170029705-T-C c.11044A>G p.T3682A Missense 57/79 - 2
2-170029707-A-G c.11042T>C p.F3681S Missense 57/79 - 1
2-170029708-A-C c.11041T>G p.F3681V Missense 57/79 - 1
2-170029708-A-G c.11041T>C p.F3681L Missense 57/79 - 2
2-170029709-G-A c.11040C>T p.N3680= Synonymous 57/79 - 1
2-170029717-A-G c.11032T>C p.C3678R Missense 57/79 - 3
2-170029718-G-A c.11031C>T p.L3677= Synonymous 57/79 - 3
2-170029718-G-C c.11031C>G p.L3677= Synonymous 57/79 - 1
2-170029723-G-A c.11026C>T p.H3676Y Missense 57/79 - 1
2-170029723-G-T c.11026C>A p.H3676N Missense 57/79 - 1
2-170029726-C-T c.11023G>A p.A3675T Missense 57/79 - 1
2-170029728-G-C c.11021C>G p.S3674C Missense 57/79 - 2
2-170029729-A-C c.11020T>G p.S3674A Missense 57/79 - 1
2-170029729-A-G c.11020T>C p.S3674P Missense 57/79 - 1
2-170029730-G-C c.11019C>G p.S3673R Missense 57/79 - 1
2-170029730-G-T c.11019C>A p.S3673R Missense 57/79 - 2
2-170029732-T-G c.11017A>C p.S3673R Missense 57/79 - 1
2-170029734-A-G c.11015T>C p.M3672T Missense 57/79 - 1
2-170029800-T-C c.11015-66A>G - IntronicSNV - 56/78 6
2-170029922-C-A c.11015-188G>T - IntronicSNV - 56/78 2
2-170030426-T-TA c.11014+2dup - SpliceDonorInsertion - 56/78 1
2-170030429-T-A c.11014A>T p.M3672L Missense 56/79 - 1
2-170030430-G-A c.11013C>T p.C3671= Synonymous 56/79 - 1
2-170030431-C-A c.11012G>T p.C3671F Missense 56/79 - 4
2-170030436-T-A c.11007A>T p.E3669D Missense 56/79 - 2
2-170030436-T-G c.11007A>C p.E3669D Missense 56/79 - 2
2-170030438-C-T c.11005G>A p.E3669K Missense 56/79 - 1
2-170030440-A-G c.11003T>C p.I3668T Missense 56/79 - 1
2-170030440-A-T c.11003T>A p.I3668N Missense 56/79 - 1
2-170030452-G-A c.10991C>T p.S3664L Missense 56/79 - 2
2-170030452-G-C c.10991C>G p.S3664W Missense 56/79 - 2
2-170030452-G-T c.10991C>A p.S3664* Nonsense 56/79 - 2
2-170030458-T-G c.10985A>C p.D3662A Missense 56/79 - 2
2-170030461-C-G c.10982G>C p.G3661A Missense 56/79 - 4
2-170030464-C-A c.10979G>T p.C3660F Missense 56/79 - 2
2-170030464-C-T c.10979G>A p.C3660Y Missense 56/79 - 1
2-170030468-C-G c.10975G>C p.D3659H Missense 56/79 - 1
2-170030471-T-C c.10972A>G p.N3658D Missense 56/79 - 1
2-170030474-C-T c.10969G>A p.D3657N Missense 56/79 - 2
2-170030479-T-C c.10964A>G p.D3655G Missense 56/79 - 2
2-170030484-C-G c.10959G>C p.K3653N Missense 56/79 - 1
2-170030491-G-T c.10952C>A p.A3651D Missense 56/79 - 2
2-170030492-C-T c.10951G>A p.A3651T Missense 56/79 - 2
2-170030493-C-T c.10950G>A p.Q3650= Synonymous 56/79 - 1
2-170030494-T-C c.10949A>G p.Q3650R Missense 56/79 - 1
2-170030495-G-T c.10948C>A p.Q3650K Missense 56/79 - 2
2-170030497-G-A c.10946C>T p.P3649L Missense 56/79 - 2
2-170030498-G-A c.10945C>T p.P3649S Missense 56/79 - 1
2-170030499-G-A c.10944C>T p.I3648= Synonymous 56/79 - 2
2-170030505-G-A c.10938C>T p.R3646= Synonymous 56/79 - 1
2-170030505-G-C c.10938C>G p.R3646= Synonymous 56/79 - 1
2-170030505-G-T c.10938C>A p.R3646= Synonymous 56/79 - 1
2-170030506-C-T c.10937G>A p.R3646H Missense 56/79 - 12
2-170030507-G-A c.10936C>T p.R3646C Missense 56/79 - 1
2-170030509-C-T c.10934G>A p.G3645D Missense 56/79 - 1
2-170030511-A-T c.10932T>A p.N3644K Missense 56/79 - 1
2-170030513-T-C c.10930A>G p.N3644D Missense 56/79 - 7
2-170030515-G-A c.10928C>T p.A3643V Missense 56/79 - 1
2-170030515-G-C c.10928C>G p.A3643G Missense 56/79 - 1
2-170030518-C-T c.10925G>A p.C3642Y Missense 56/79 - 3
2-170030521-C-G c.10922G>C p.R3641P Missense 56/79 - 1
2-170030521-C-T c.10922G>A p.R3641Q Missense 56/79 - 3
2-170030522-G-A c.10921C>T p.R3641W Missense 56/79 - 6
2-170030522-G-T c.10921C>A p.R3641= Synonymous 56/79 - 1
2-170030524-A-T c.10919T>A p.F3640Y Missense 56/79 - 1
2-170030526-C-G c.10917G>C p.Q3639H Missense 56/79 - 1
2-170030526-C-T c.10917G>A p.Q3639= Synonymous 56/79 - 2
2-170030528-G-A c.10915C>T p.Q3639* Nonsense 56/79 - 1
2-170030530-C-T c.10913G>A p.G3638D Missense 56/79 - 2
2-170030531-C-A c.10912G>T p.G3638C Missense 56/79 - 2
2-170030533-G-A c.10910C>T p.P3637L Missense 56/79 - 2
2-170030536-C-T c.10907G>A p.R3636Q Missense 56/79 - 2
2-170030537-G-A c.10906C>T p.R3636W Missense 56/79 - 3
2-170030537-G-C c.10906C>G p.R3636G Missense 56/79 - 2
2-170030538-G-A c.10905C>T p.C3635= Synonymous 56/79 - 2
2-170030542-G-A c.10901C>T p.T3634I Missense 56/79 - 1
2-170030544-C-T c.10899G>A p.R3633= Synonymous 56/79 - 1
2-170030547-G-C c.10896C>G p.S3632R Missense 56/79 - 2
2-170030547-G-T c.10896C>A p.S3632R Missense 56/79 - 2
2-170030549-T-G c.10894A>C p.S3632R Missense 56/79 - 2
2-170030549-T-C c.10894A>G p.S3632G Missense 56/79 - 3
2-170030554-C-A c.10889G>T p.C3630F Missense 56/79 - 1
2-170030554-C-T c.10889G>A p.C3630Y Missense 56/79 - 1
2-170030556-G-C c.10887C>G p.H3629Q Missense 56/79 - 7
2-170030556-G-T c.10887C>A p.H3629Q Missense 56/79 - 3
2-170030558-G-A c.10885C>T p.H3629Y Missense 56/79 - 1
2-170030560-G-A c.10883C>T p.S3628F Missense 56/79 - 2
2-170030562-A-C c.10881T>G p.S3627R Missense 56/79 - 1
2-170030562-A-T c.10881T>A p.S3627R Missense 56/79 - 1
2-170030564-T-G c.10879A>C p.S3627R Missense 56/79 - 1
2-170030563-C-A c.10880G>T p.S3627I Missense 56/79 - 1
2-170030564-T-C c.10879A>G p.S3627G Missense 56/79 - 1
2-170030565-G-A c.10878C>T p.D3626= Synonymous 56/79 - 1
2-170030565-G-T c.10878C>A p.D3626E Missense 56/79 - 1
2-170030566-T-C c.10877A>G p.D3626G Missense 56/79 - 2
2-170030566-T-G c.10877A>C p.D3626A Missense 56/79 - 2
2-170030567-C-A c.10876G>T p.D3626Y Missense 56/79 - 2
2-170030570-C-T c.10873G>A p.E3625K Missense 56/79 - 1
2-170030573-C-G c.10870G>C p.D3624H Missense 56/79 - 1
2-170030574-T-A c.10869A>T p.S3623= Synonymous 56/79 - 2
2-170030574-T-C c.10869A>G p.S3623= Synonymous 56/79 - 2
2-170030574-T-G c.10869A>C p.S3623= Synonymous 56/79 - 2
2-170030577-G-C c.10866C>G p.N3622K Missense 56/79 - 2
2-170030581-T-C c.10862A>G p.D3621G Missense 56/79 - 1
2-170030591-C-T c.10852G>A p.D3618N Missense 56/79 - 3
2-170030594-T-C c.10849A>G p.N3617D Missense 56/79 - 1
2-170030596-A-T c.10847T>A p.F3616Y Missense 56/79 - 1
2-170030601-G-A c.10842C>T p.D3614= Synonymous 56/79 - 1
2-170030603-C-T c.10840G>A p.D3614N Missense 56/79 - 1
2-170030605-CA-GT c.10837_10838delinsAC p.C3613T Missense 56/79 - 1
2-170030607-C-A c.10836G>T p.Q3612H Missense 56/79 - 5
2-170030607-C-T c.10836G>A p.Q3612= Synonymous 56/79 - 1
2-170030608-T-C c.10835A>G p.Q3612R Missense 56/79 - 1
2-170030613-G-A c.10830C>T p.S3610= Synonymous 56/79 - 1
2-170030617-T-C c.10826A>G p.E3609G Missense 56/79 - 1
2-170030620-G-A c.10823C>T p.P3608L Missense 56/79 - 2
2-170030622-G-A c.10821C>T p.I3607= Synonymous 56/79 - 3
2-170030622-G-C c.10821C>G p.I3607M Missense 56/79 - 1
2-170030622-G-T c.10821C>A p.I3607= Synonymous 56/79 - 2
2-170030623-A-G c.10820T>C p.I3607T Missense 56/79 - 2
2-170030628-AC-TT c.10814_10815delinsAA p.R3605Q Missense 56/79 - 1
2-170030629-C-T c.10814G>A p.R3605H Missense 56/79 - 2
2-170030630-G-A c.10813C>T p.R3605C Missense 56/79 - 1
2-170030631-T-C c.10812A>G p.K3604= Synonymous 56/79 - 2
2-170030635-T-C c.10808A>G p.N3603S Missense 56/79 - 2
2-170030639-C-T c.10804G>A p.A3602T Missense 56/79 - 11
2-170030640-G-A c.10803C>T p.C3601= Synonymous 56/79 - 6
2-170030647-C-G c.10796G>C p.W3599S Missense 56/79 - 2
2-170030651-C-T c.10792G>A p.E3598K Missense 56/79 - 5
2-170030653-T-C c.10790A>G p.N3597S Missense 56/79 - 1
2-170030654-T-C c.10789A>G p.N3597D Missense 56/79 - 2
2-170030661-A-G c.10782T>C p.C3594= Synonymous 56/79 - 1
2-170030662-C-T c.10781G>A p.C3594Y Missense 56/79 - 1
2-170030671-T-G c.10772A>C p.N3591T Missense 56/79 - 1
2-170030821-T-A c.10769-147A>T - IntronicSNV - 55/78 3
2-170030821-T-C c.10769-147A>G - IntronicSNV - 55/78 3
2-170030917-C-A c.10769-243G>T - IntronicSNV - 55/78 1
2-170030917-C-G c.10769-243G>C - IntronicSNV - 55/78 1
2-170031529-TAA-T c.10768+172_10768+173del - IntronicDeletion - 55/78 2
2-170031529-TA-T c.10768+173del - IntronicDeletion - 55/78 1
2-170031577-C-T c.10768+126G>A - IntronicSNV - 55/78 1
2-170031690-C-T c.10768+13G>A - IntronicSNV - 55/78 1
2-170031709-G-A c.10762C>T p.L3588F Missense 55/79 - 3
2-170031709-G-C c.10762C>G p.L3588V Missense 55/79 - 2
2-170031712-G-C c.10759C>G p.L3587V Missense 55/79 - 1
2-170031714-C-T c.10757G>A p.R3586H Missense 55/79 - 3
2-170031715-G-A c.10756C>T p.R3586C Missense 55/79 - 2
2-170031715-G-C c.10756C>G p.R3586G Missense 55/79 - 2
2-170031715-G-T c.10756C>A p.R3586S Missense 55/79 - 1
2-170031717-T-A c.10754A>T p.D3585V Missense 55/79 - 1
2-170031718-C-T c.10753G>A p.D3585N Missense 55/79 - 1
2-170031718-TC-T c.10753del p.D3585Tfs*88 Frameshift 55/79 - 1
2-170031721-C-T c.10750G>A p.E3584K Missense 55/79 - 5
2-170031722-A-C c.10749T>G p.D3583E Missense 55/79 - 2
2-170031729-C-T c.10742G>A p.G3581E Missense 55/79 - 2
2-170031730-C-A c.10741G>T p.G3581W Missense 55/79 - 1
2-170031732-T-C c.10739A>G p.D3580G Missense 55/79 - 2
2-170031733-C-G c.10738G>C p.D3580H Missense 55/79 - 3
2-170031733-C-T c.10738G>A p.D3580N Missense 55/79 - 2
2-170031735-G-A c.10736C>T p.P3579L Missense 55/79 - 1
2-170031737-G-A c.10734C>T p.C3578= Synonymous 55/79 - 1
2-170031745-G-A c.10726C>T p.Q3576* Nonsense 55/79 - 1
2-170031747-T-C c.10724A>G p.H3575R Missense 55/79 - 2
2-170031750-G-T c.10721C>A p.A3574D Missense 55/79 - 3
2-170031751-C-A c.10720G>T p.A3574S Missense 55/79 - 1
2-170031753-T-A c.10718A>T p.N3573I Missense 55/79 - 1
2-170031753-T-C c.10718A>G p.N3573S Missense 55/79 - 2
2-170031759-A-G c.10712T>C p.L3571S Missense 55/79 - 1
2-170031763-T-A c.10708A>T p.T3570S Missense 55/79 - 1
2-170031763-T-C c.10708A>G p.T3570A Missense 55/79 - 1
2-170031767-C-A c.10704G>T p.P3568= Synonymous 55/79 - 1
2-170031767-C-G c.10704G>C p.P3568= Synonymous 55/79 - 1
2-170031767-C-T c.10704G>A p.P3568= Synonymous 55/79 - 2
2-170031768-G-A c.10703C>T p.P3568L Missense 55/79 - 4
2-170031769-G-A c.10702C>T p.P3568S Missense 55/79 - 3
2-170031774-G-A c.10697C>T p.T3566I Missense 55/79 - 1
2-170031774-G-C c.10697C>G p.T3566S Missense 55/79 - 1
2-170031778-A-T c.10693T>A p.C3565S Missense 55/79 - 1
2-170031780-T-C c.10691A>G p.N3564S Missense 55/79 - 1
2-170031783-C-T c.10688G>A p.G3563D Missense 55/79 - 1
2-170031784-C-T c.10687G>A p.G3563S Missense 55/79 - 8
2-170031785-G-A c.10686C>T p.D3562= Synonymous 55/79 - 1
2-170031789-C-G c.10682G>C p.S3561T Missense 55/79 - 1
2-170031790-T-C c.10681A>G p.S3561G Missense 55/79 - 2
2-170031791-G-T c.10680C>A p.C3560* Nonsense 55/79 - 1
2-170031797-G-C c.10674C>G p.F3558L Missense 55/79 - 3
2-170031797-G-T c.10674C>A p.F3558L Missense 55/79 - 3
2-170031799-A-G c.10672T>C p.F3558L Missense 55/79 - 3
2-170031801-T-C c.10670A>G p.Q3557R Missense 55/79 - 1
2-170031802-G-A c.10669C>T p.Q3557* Nonsense 55/79 - 1
2-170031802-G-C c.10669C>G p.Q3557E Missense 55/79 - 1
2-170031802-G-T c.10669C>A p.Q3557K Missense 55/79 - 1
2-170031804-C-T c.10667G>A p.G3556E Missense 55/79 - 2
2-170031805-C-G c.10666G>C p.G3556R Missense 55/79 - 1
2-170031805-C-T c.10666G>A p.G3556R Missense 55/79 - 1
2-170031808-G-C c.10663C>G p.L3555V Missense 55/79 - 2
2-170031810-C-T c.10661G>A p.R3554Q Missense 55/79 - 2
2-170031811-G-C c.10660C>G p.R3554G Missense 55/79 - 1
2-170031810-CGGCAGAAGCGCTGCGGGCAAA-C c.10640_10660del p.L3547_C3553del InFrameDeletion 55/79 - 1
2-170031815-G-T c.10656C>A p.F3552L Missense 55/79 - 1
2-170031816-A-G c.10655T>C p.F3552S Missense 55/79 - 1
2-170031817-A-C c.10654T>G p.F3552V Missense 55/79 - 2
2-170031819-C-T c.10652G>A p.R3551H Missense 55/79 - 7
2-170031820-G-A c.10651C>T p.R3551C Missense 55/79 - 7
2-170031820-G-C c.10651C>G p.R3551G Missense 55/79 - 1
2-170031820-G-T c.10651C>A p.R3551S Missense 55/79 - 1
2-170031822-T-C c.10649A>G p.Q3550R Missense 55/79 - 2
2-170031823-G-A c.10648C>T p.Q3550* Nonsense 55/79 - 2
2-170031824-C-A c.10647G>T p.P3549= Synonymous 55/79 - 1
2-170031824-C-G c.10647G>C p.P3549= Synonymous 55/79 - 1
2-170031824-C-T c.10647G>A p.P3549= Synonymous 55/79 - 5
2-170031825-G-A c.10646C>T p.P3549L Missense 55/79 - 7
2-170031827-G-C c.10644C>G p.C3548W Missense 55/79 - 1
2-170031832-G-A c.10639C>T p.L3547F Missense 55/79 - 4
2-170031832-G-GT c.10638_10639insA p.L3547Tfs*16 Frameshift 55/79 - 1
2-170031833-G-A c.10638C>T p.A3546= Synonymous 55/79 - 1
2-170031834-G-A c.10637C>T p.A3546V Missense 55/79 - 1
2-170031838-G-T c.10633C>A p.L3545M Missense 55/79 - 2
2-170031841-C-G c.10630G>C p.E3544Q Missense 55/79 - 3
2-170031841-C-T c.10630G>A p.E3544K Missense 55/79 - 6
2-170031846-G-T c.10625C>A p.S3542Y Missense 55/79 - 1
2-170031849-C-A c.10622G>T p.G3541V Missense 55/79 - 1
2-170031849-C-G c.10622G>C p.G3541A Missense 55/79 - 1
2-170031849-C-T c.10622G>A p.G3541D Missense 55/79 - 1
2-170031853-C-T c.10618G>A p.D3540N Missense 55/79 - 3
2-170031858-C-A c.10613G>T p.C3538F Missense 55/79 - 1
2-170031858-C-G c.10613G>C p.C3538S Missense 55/79 - 2
2-170031859-A-T c.10612T>A p.C3538S Missense 55/79 - 3
2-170031862-C-A c.10609G>T p.D3537Y Missense 55/79 - 1
2-170031867-T-C c.10604A>G p.Q3535R Missense 55/79 - 1
2-170031868-G-A c.10603C>T p.Q3535* Nonsense 55/79 - 1
2-170031872-A-G c.10599T>C p.D3533= Synonymous 55/79 - 1
2-170031874-C-T c.10597G>A p.D3533N Missense 55/79 - 1
2-170031881-C-T c.10590G>A p.W3530* Nonsense 55/79 - 2
2-170031882-C-T c.10589G>A p.W3530* Nonsense 55/79 - 2
2-170031883-A-G c.10588T>C p.W3530R Missense 55/79 - 1
2-170031884-C-G c.10587G>C p.W3529C Missense 55/79 - 1
2-170031886-A-C c.10585T>G p.W3529G Missense 55/79 - 1
2-170031887-G-A c.10584C>T p.I3528= Synonymous 55/79 - 1
2-170031888-A-C c.10583T>G p.I3528S Missense 55/79 - 1
2-170031888-A-G c.10583T>C p.I3528T Missense 55/79 - 1
2-170031891-G-A c.10580C>T p.P3527L Missense 55/79 - 3
2-170031896-G-A c.10575C>T p.C3525= Synonymous 55/79 - 1
2-170032062-G-A c.10572-163C>T - IntronicSNV - 54/78 1
2-170032166-A-G c.10572-267T>C - IntronicSNV - 54/78 1
2-170032840-C-T c.10571+81G>A - IntronicSNV - 54/78 1
2-170032921-T-C c.10571A>G p.K3524R Missense 54/79 - 1
2-170032925-C-T c.10567G>A p.E3523K Missense 54/79 - 3
2-170032927-T-C c.10565A>G p.N3522S Missense 54/79 - 1
2-170032931-T-C c.10561A>G p.N3521D Missense 54/79 - 1
2-170032933-G-A c.10559C>T p.A3520V Missense 54/79 - 1
2-170032933-G-C c.10559C>G p.A3520G Missense 54/79 - 1
2-170032934-C-T c.10558G>A p.A3520T Missense 54/79 - 6
2-170032935-G-A c.10557C>T p.C3519= Synonymous 54/79 - 3
2-170032936-C-T c.10556G>A p.C3519Y Missense 54/79 - 1
2-170032937-A-C c.10555T>G p.C3519G Missense 54/79 - 7
2-170032939-A-G c.10553T>C p.L3518P Missense 54/79 - 1
2-170032940-G-A c.10552C>T p.L3518= Synonymous 54/79 - 1
2-170032941-G-A c.10551C>T p.F3517= Synonymous 54/79 - 5
2-170032941-G-T c.10551C>A p.F3517L Missense 54/79 - 1
2-170032944-C-G c.10548G>C p.Q3516H Missense 54/79 - 2
2-170032945-T-C c.10547A>G p.Q3516R Missense 54/79 - 4
2-170032945-T-G c.10547A>C p.Q3516P Missense 54/79 - 1
2-170032946-G-T c.10546C>A p.Q3516K Missense 54/79 - 2
2-170032948-G-A c.10544C>T p.T3515I Missense 54/79 - 2
2-170032951-C-A c.10541G>T p.S3514I Missense 54/79 - 4
2-170032954-G-A c.10538C>T p.S3513F Missense 54/79 - 2
2-170032954-G-T c.10538C>A p.S3513Y Missense 54/79 - 5
2-170032957-C-G c.10535G>C p.C3512S Missense 54/79 - 2
2-170032957-C-T c.10535G>A p.C3512Y Missense 54/79 - 2
2-170032960-A-G c.10532T>C p.M3511T Missense 54/79 - 1
2-170032961-T-C c.10531A>G p.M3511V Missense 54/79 - 2
2-170032961-T-G c.10531A>C p.M3511L Missense 54/79 - 1
2-170032963-G-A c.10529C>T p.P3510L Missense 54/79 - 2
2-170032972-T-C c.10520A>G p.Y3507C Missense 54/79 - 2
2-170032974-G-A c.10518C>T p.T3506= Synonymous 54/79 - 4
2-170032980-G-A c.10512C>T p.G3504= Synonymous 54/79 - 1
2-170032981-C-A c.10511G>T p.G3504V Missense 54/79 - 1
2-170032982-C-G c.10510G>C p.G3504R Missense 54/79 - 1
2-170032984-C-T c.10508G>A p.S3503N Missense 54/79 - 1
2-170032987-A-G c.10505T>C p.L3502P Missense 54/79 - 2
2-170032988-G-T c.10504C>A p.L3502M Missense 54/79 - 1
2-170032989-C-G c.10503G>C p.Q3501H Missense 54/79 - 4
2-170032989-C-T c.10503G>A p.Q3501= Synonymous 54/79 - 21
2-170032994-G-A c.10498C>T p.L3500F Missense 54/79 - 2
2-170032994-G-C c.10498C>G p.L3500V Missense 54/79 - 2
2-170032996-G-A c.10496C>T p.T3499I Missense 54/79 - 1
2-170032999-C-A c.10493G>T p.R3498L Missense 54/79 - 1
2-170032999-C-T c.10493G>A p.R3498H Missense 54/79 - 6
2-170033000-G-A c.10492C>T p.R3498C Missense 54/79 - 4
2-170033006-C-T c.10486G>A p.D3496N Missense 54/79 - 3
2-170033009-C-A c.10483G>T p.D3495Y Missense 54/79 - 1
2-170033009-C-T c.10483G>A p.D3495N Missense 54/79 - 1
2-170033014-CA-GT c.10477_10478delinsAC p.C3493T Missense 54/79 - 1
2-170033017-T-C c.10475A>G p.E3492G Missense 54/79 - 6
2-170033018-C-T c.10474G>A p.E3492K Missense 54/79 - 3
2-170033019-G-A c.10473C>T p.C3491= Synonymous 54/79 - 1
2-170033019-G-T c.10473C>A p.C3491* Nonsense 54/79 - 1
2-170033020-C-A c.10472G>T p.C3491F Missense 54/79 - 1
2-170033020-C-T c.10472G>A p.C3491Y Missense 54/79 - 1
2-170033021-A-G c.10471T>C p.C3491R Missense 54/79 - 2
2-170033022-A-G c.10470T>C p.T3490= Synonymous 54/79 - 1
2-170033024-T-C c.10468A>G p.T3490A Missense 54/79 - 1
2-170033026-A-C c.10466T>G p.F3489C Missense 54/79 - 1
2-170033029-C-T c.10463G>A p.G3488E Missense 54/79 - 1
2-170033031-T-C c.10461A>G p.K3487= Synonymous 54/79 - 3
2-170033035-C-T c.10457G>A p.G3486E Missense 54/79 - 9
2-170033034-TC-T c.10457del p.G3486Efs*17 Frameshift 54/79 - 1
2-170033036-C-T c.10456G>A p.G3486R Missense 54/79 - 5
2-170033038-C-T c.10454G>A p.G3485E Missense 54/79 - 1
2-170033039-C-G c.10453G>C p.G3485R Missense 54/79 - 1
2-170033039-C-T c.10453G>A p.G3485R Missense 54/79 - 1
2-170033042-G-A c.10450C>T p.P3484S Missense 54/79 - 1
2-170033043-C-A c.10449G>T p.K3483N Missense 54/79 - 1
2-170033045-T-C c.10447A>G p.K3483E Missense 54/79 - 1
2-170033051-G-C c.10441C>G p.L3481V Missense 54/79 - 3
2-170033053-C-T c.10439G>A p.C3480Y Missense 54/79 - 1
2-170033060-G-A c.10432C>T p.H3478Y Missense 54/79 - 1
2-170033062-G-A c.10430C>T p.S3477F Missense 54/79 - 1
2-170033068-C-G c.10424G>C p.G3475A Missense 54/79 - 2
2-170033068-C-T c.10424G>A p.G3475D Missense 54/79 - 1
2-170033071-C-T c.10421G>A p.G3474D Missense 54/79 - 2
2-170033074-T-C c.10418A>G p.N3473S Missense 54/79 - 2
2-170033076-G-C c.10416C>G p.N3472K Missense 54/79 - 2
2-170033076-G-T c.10416C>A p.N3472K Missense 54/79 - 2
2-170033077-T-C c.10415A>G p.N3472S Missense 54/79 - 1
2-170033078-T-G c.10414A>C p.N3472H Missense 54/79 - 1
2-170033083-C-T c.10409G>A p.G3470D Missense 54/79 - 1
2-170033089-G-A c.10403C>T p.P3468L Missense 54/79 - 6
2-170033090-G-A c.10402C>T p.P3468S Missense 54/79 - 2
2-170033094-G-T c.10398C>A p.S3466R Missense 54/79 - 2
2-170033095-C-T c.10397G>A p.S3466N Missense 54/79 - 3
2-170033096-T-C c.10396A>G p.S3466G Missense 54/79 - 1
2-170033098-A-T c.10394T>A p.V3465E Missense 54/79 - 1
2-170033995-T-A c.10393+318A>T - IntronicSNV - 53/78 1
2-170033995-T-C c.10393+318A>G - IntronicSNV - 53/78 2
2-170034075-T-A c.10393+238A>T - IntronicSNV - 53/78 1
2-170034075-T-C c.10393+238A>G - IntronicSNV - 53/78 1
2-170034315-A-G c.10391T>C p.I3464T Missense 53/79 - 2
2-170034316-T-C c.10390A>G p.I3464V Missense 53/79 - 1
2-170034317-G-A c.10389C>T p.P3463= Synonymous 53/79 - 2
2-170034317-G-C c.10389C>G p.P3463= Synonymous 53/79 - 1
2-170034317-G-T c.10389C>A p.P3463= Synonymous 53/79 - 1
2-170034318-G-A c.10388C>T p.P3463L Missense 53/79 - 1
2-170034324-C-T c.10382G>A p.R3461K Missense 53/79 - 1
2-170034326-A-G c.10380T>C p.Y3460= Synonymous 53/79 - 1
2-170034334-G-T c.10372C>A p.H3458N Missense 53/79 - 2
2-170034342-T-C c.10364A>G p.H3455R Missense 53/79 - 1
2-170034343-G-T c.10363C>A p.H3455N Missense 53/79 - 2
2-170034344-G-A c.10362C>T p.I3454= Synonymous 53/79 - 1
2-170034345-A-G c.10361T>C p.I3454T Missense 53/79 - 1
2-170034349-C-A c.10357G>T p.D3453Y Missense 53/79 - 1
2-170034352-A-G c.10354T>C p.F3452L Missense 53/79 - 1
2-170034353-T-A c.10353A>T p.P3451= Synonymous 53/79 - 1
2-170034354-G-T c.10352C>A p.P3451Q Missense 53/79 - 3
2-170034356-TCT-ACA c.10348_10350delinsTGT p.R3450C Missense 53/79 - 1
2-170034359-G-C c.10347C>G p.H3449Q Missense 53/79 - 5
2-170034359-G-T c.10347C>A p.H3449Q Missense 53/79 - 3
2-170034362-TG-GT c.10343_10344delinsAC p.T3448N Missense 53/79 - 1
2-170034363-G-T c.10343C>A p.T3448K Missense 53/79 - 1
2-170034364-T-C c.10342A>G p.T3448A Missense 53/79 - 1
2-170034373-C-T c.10333G>A p.V3445M Missense 53/79 - 2
2-170034378-G-A c.10328C>T p.T3443I Missense 53/79 - 2
2-170034384-C-T c.10322G>A p.R3441K Missense 53/79 - 1
2-170034386-A-G c.10320T>C p.N3440= Synonymous 53/79 - 4
2-170034390-G-A c.10316C>T p.S3439L Missense 53/79 - 1
2-170034394-C-A c.10312G>T p.G3438* Nonsense 53/79 - 1
2-170034396-T-C c.10310A>G p.D3437G Missense 53/79 - 1
2-170034397-C-G c.10309G>C p.D3437H Missense 53/79 - 1
2-170034399-T-A c.10307A>T p.Y3436F Missense 53/79 - 1
2-170034408-C-T c.10298G>A p.G3433E Missense 53/79 - 6
2-170034409-C-T c.10297G>A p.G3433R Missense 53/79 - 1
2-170034411-T-C c.10295A>G p.K3432R Missense 53/79 - 2
2-170034423-C-A c.10283G>T p.R3428M Missense 53/79 - 2
2-170034424-T-C c.10282A>G p.R3428G Missense 53/79 - 2
2-170034426-G-A c.10280C>T p.T3427I Missense 53/79 - 1
2-170034431-C-A c.10275G>T p.W3425C Missense 53/79 - 1
2-170034431-C-G c.10275G>C p.W3425C Missense 53/79 - 1
2-170034431-C-T c.10275G>A p.W3425* Nonsense 53/79 - 4
2-170034432-C-T c.10274G>A p.W3425* Nonsense 53/79 - 5
2-170034433-A-T c.10273T>A p.W3425R Missense 53/79 - 1
2-170034436-C-G c.10270G>C p.D3424H Missense 53/79 - 1
2-170034436-C-T c.10270G>A p.D3424N Missense 53/79 - 1
2-170034440-C-T c.10266G>A p.W3422* Nonsense 53/79 - 1
2-170034441-C-T c.10265G>A p.W3422* Nonsense 53/79 - 2
2-170034444-T-A c.10262A>T p.Y3421F Missense 53/79 - 1
2-170034445-A-T c.10261T>A p.Y3421N Missense 53/79 - 6
2-170034450-G-A c.10256C>T p.T3419I Missense 53/79 - 1
2-170034450-G-T c.10256C>A p.T3419N Missense 53/79 - 3
2-170034469-T-C c.10237A>G p.I3413V Missense 53/79 - 2
2-170034471-G-T c.10235C>A p.A3412D Missense 53/79 - 6
2-170034472-C-A c.10234G>T p.A3412S Missense 53/79 - 1
2-170034472-C-T c.10234G>A p.A3412T Missense 53/79 - 3
2-170034473-G-A c.10233C>T p.F3411= Synonymous 53/79 - 1
2-170034478-G-C c.10228C>G p.P3410A Missense 53/79 - 2
2-170034478-G-T c.10228C>A p.P3410T Missense 53/79 - 1
2-170034480-T-C c.10226A>G p.H3409R Missense 53/79 - 3
2-170034484-G-T c.10222C>A p.P3408T Missense 53/79 - 1
2-170034489-G-T c.10217C>A p.A3406E Missense 53/79 - 1
2-170034493-C-T c.10213G>A p.G3405R Missense 53/79 - 2
2-170034495-T-A c.10211A>T p.D3404V Missense 53/79 - 1
2-170034495-T-C c.10211A>G p.D3404G Missense 53/79 - 2
2-170034496-C-G c.10210G>C p.D3404H Missense 53/79 - 2
2-170034503-C-A c.10203G>T p.T3401= Synonymous 53/79 - 2
2-170034503-C-G c.10203G>C p.T3401= Synonymous 53/79 - 2
2-170034503-C-T c.10203G>A p.T3401= Synonymous 53/79 - 2
2-170034504-G-A c.10202C>T p.T3401M Missense 53/79 - 2
2-170034504-G-C c.10202C>G p.T3401R Missense 53/79 - 1
2-170034509-T-C c.10197A>G p.R3399= Synonymous 53/79 - 1
2-170034510-C-A c.10196G>T p.R3399L Missense 53/79 - 1
2-170034510-C-T c.10196G>A p.R3399Q Missense 53/79 - 3
2-170034511-G-A c.10195C>T p.R3399* Nonsense 53/79 - 7
2-170034510-CGAT-C c.10193_10195del p.H3398del InFrameDeletion 53/79 - 1
2-170034513-T-C c.10193A>G p.H3398R Missense 53/79 - 1
2-170034516-T-C c.10190A>G p.H3397R Missense 53/79 - 2
2-170034522-T-C c.10184A>G p.E3395G Missense 53/79 - 4
2-170034524-C-A c.10182G>T p.L3394F Missense 53/79 - 2
2-170034531-G-A c.10175C>T p.S3392F Missense 53/79 - 3
2-170037070-T-C c.10169+888A>G - IntronicSNV - 52/78 1
2-170037294-A-C c.10169+664T>G - IntronicSNV - 52/78 1
2-170037294-A-T c.10169+664T>A - IntronicSNV - 52/78 1
2-170037960-T-A c.10167A>T p.I3389= Synonymous 52/79 - 1
2-170037960-T-G c.10167A>C p.I3389= Synonymous 52/79 - 1
2-170037962-T-C c.10165A>G p.I3389V Missense 52/79 - 7
2-170037968-C-A c.10159G>T p.G3387C Missense 52/79 - 2
2-170037970-A-G c.10157T>C p.L3386P Missense 52/79 - 2
2-170037971-G-A c.10156C>T p.L3386= Synonymous 52/79 - 2
2-170037972-G-C c.10155C>G p.H3385Q Missense 52/79 - 2
2-170037974-G-A c.10153C>T p.H3385Y Missense 52/79 - 1
2-170037978-A-C c.10149T>G p.D3383E Missense 52/79 - 2
2-170037980-C-T c.10147G>A p.D3383N Missense 52/79 - 1
2-170037981-TGC-ACA c.10144_10146delinsTGT p.A3382C Missense 52/79 - 1
2-170037982-G-A c.10145C>T p.A3382V Missense 52/79 - 1
2-170037982-G-T c.10145C>A p.A3382E Missense 52/79 - 2
2-170037983-C-T c.10144G>A p.A3382T Missense 52/79 - 2
2-170037990-G-A c.10137C>T p.L3379= Synonymous 52/79 - 4
2-170037995-G-C c.10132C>G p.L3378V Missense 52/79 - 1
2-170037997-T-G c.10130A>C p.D3377A Missense 52/79 - 1
2-170037998-C-G c.10129G>C p.D3377H Missense 52/79 - 1
2-170037998-C-T c.10129G>A p.D3377N Missense 52/79 - 2
2-170038000-T-C c.10127A>G p.N3376S Missense 52/79 - 2
2-170038004-T-A c.10123A>T p.T3375S Missense 52/79 - 1
2-170038013-T-C c.10114A>G p.I3372V Missense 52/79 - 3
2-170038014-G-T c.10113C>A p.T3371= Synonymous 52/79 - 2
2-170038019-T-C c.10108A>G p.I3370V Missense 52/79 - 1
2-170038033-T-C c.10094A>G p.E3365G Missense 52/79 - 1
2-170038038-C-G c.10089G>C p.K3363N Missense 52/79 - 1
2-170038045-G-A c.10082C>T p.S3361F Missense 52/79 - 1
2-170038049-T-G c.10078A>C p.I3360L Missense 52/79 - 1
2-170038051-A-G c.10076T>C p.I3359T Missense 52/79 - 1
2-170038051-A-T c.10076T>A p.I3359K Missense 52/79 - 1
2-170038054-A-G c.10073T>C p.V3358A Missense 52/79 - 1
2-170038056-A-G c.10071T>C p.S3357= Synonymous 52/79 - 1
2-170038057-G-A c.10070C>T p.S3357F Missense 52/79 - 1
2-170038058-A-T c.10069T>A p.S3357T Missense 52/79 - 2
2-170038063-T-C c.10064A>G p.N3355S Missense 52/79 - 2
2-170038064-T-A c.10063A>T p.N3355Y Missense 52/79 - 1
2-170038066-G-T c.10061C>A p.T3354N Missense 52/79 - 2
2-170038070-C-T c.10057G>A p.G3353R Missense 52/79 - 3
2-170038074-C-T c.10053G>A p.M3351I Missense 52/79 - 3
2-170038076-T-C c.10051A>G p.M3351V Missense 52/79 - 1
2-170038082-C-T c.10045G>A p.V3349I Missense 52/79 - 2
2-170038083-T-C c.10044A>G p.R3348= Synonymous 52/79 - 2
2-170038084-C-T c.10043G>A p.R3348K Missense 52/79 - 1
2-170038086-C-A c.10041G>T p.G3347= Synonymous 52/79 - 1
2-170038091-T-A c.10036A>T p.I3346F Missense 52/79 - 1
2-170038091-T-C c.10036A>G p.I3346V Missense 52/79 - 1
2-170038091-T-G c.10036A>C p.I3346L Missense 52/79 - 1
2-170038095-T-G c.10032A>C p.A3344= Synonymous 52/79 - 1
2-170038097-C-T c.10030G>A p.A3344T Missense 52/79 - 14
2-170038098-G-A c.10029C>T p.R3343= Synonymous 52/79 - 4
2-170038098-G-C c.10029C>G p.R3343= Synonymous 52/79 - 2
2-170038098-G-T c.10029C>A p.R3343= Synonymous 52/79 - 2
2-170038099-C-G c.10028G>C p.R3343P Missense 52/79 - 1
2-170038099-C-T c.10028G>A p.R3343H Missense 52/79 - 1
2-170038100-G-A c.10027C>T p.R3343C Missense 52/79 - 12
2-170038101-G-A c.10026C>T p.H3342= Synonymous 52/79 - 4
2-170038102-T-A c.10025A>T p.H3342L Missense 52/79 - 1
2-170038102-T-C c.10025A>G p.H3342R Missense 52/79 - 1
2-170038105-C-T c.10022G>A p.G3341D Missense 52/79 - 2
2-170038107-C-A c.10020G>T p.W3340C Missense 52/79 - 1
2-170038111-T-C c.10016A>G p.D3339G Missense 52/79 - 2
2-170038115-C-A c.10012G>T p.A3338S Missense 52/79 - 1
2-170038124-G-T c.10003C>A p.L3335I Missense 52/79 - 3
2-170038125-G-C c.10002C>G p.Y3334* Nonsense 52/79 - 4
2-170038125-G-T c.10002C>A p.Y3334* Nonsense 52/79 - 3
2-170038262-A-C c.9999-134T>G - IntronicSNV - 51/78 1
2-170038263-T-A c.9999-135A>T - IntronicSNV - 51/78 1
2-170038263-T-C c.9999-135A>G - IntronicSNV - 51/78 1
2-170038298-A-T c.9999-170T>A - IntronicSNV - 51/78 1
2-170038571-C-A c.9998+106G>T - IntronicSNV - 51/78 1
2-170038571-C-T c.9998+106G>A - IntronicSNV - 51/78 2
2-170038574-C-A c.9998+103G>T - IntronicSNV - 51/78 1
2-170038612-C-T c.9998+65G>A - IntronicSNV - 51/78 1
2-170038642-T-G c.9998+35A>C - IntronicSNV - 51/78 1
2-170038678-C-G c.9997G>C p.G3333R Missense 51/79 - 1
2-170038678-C-T c.9997G>A p.G3333R Missense 51/79 - 1
2-170038679-A-C c.9996T>G p.Y3332* Nonsense 51/79 - 2
2-170038679-A-T c.9996T>A p.Y3332* Nonsense 51/79 - 5
2-170038680-T-C c.9995A>G p.Y3332C Missense 51/79 - 1
2-170038681-A-G c.9994T>C p.Y3332H Missense 51/79 - 1
2-170038683-T-C c.9992A>G p.Q3331R Missense 51/79 - 2
2-170038684-G-A c.9991C>T p.Q3331* Nonsense 51/79 - 1
2-170038685-A-T c.9990T>A p.P3330= Synonymous 51/79 - 1
2-170038686-G-A c.9989C>T p.P3330L Missense 51/79 - 1
2-170038687-G-A c.9988C>T p.P3330S Missense 51/79 - 2
2-170038687-G-C c.9988C>G p.P3330A Missense 51/79 - 2
2-170038688-G-C c.9987C>G p.H3329Q Missense 51/79 - 1
2-170038690-G-A c.9985C>T p.H3329Y Missense 51/79 - 1
2-170038692-A-G c.9983T>C p.L3328P Missense 51/79 - 2
2-170038695-G-A c.9980C>T p.A3327V Missense 51/79 - 1
2-170038695-G-T c.9980C>A p.A3327D Missense 51/79 - 2
2-170038698-A-T c.9977T>A p.L3326H Missense 51/79 - 2
2-170038701-C-T c.9974G>A p.G3325E Missense 51/79 - 3
2-170038702-C-T c.9973G>A p.G3325R Missense 51/79 - 1
2-170038707-G-A c.9968C>T p.P3323L Missense 51/79 - 4
2-170038708-G-A c.9967C>T p.P3323S Missense 51/79 - 7
2-170038713-T-C c.9962A>G p.D3321G Missense 51/79 - 2
2-170038714-C-T c.9961G>A p.D3321N Missense 51/79 - 1
2-170038716-A-G c.9959T>C p.F3320S Missense 51/79 - 1
2-170038717-A-G c.9958T>C p.F3320L Missense 51/79 - 1
2-170038718-G-A c.9957C>T p.C3319= Synonymous 51/79 - 1
2-170038721-G-C c.9954C>G p.F3318L Missense 51/79 - 3
2-170038719-CAGA-C c.9953_9955del p.F3318del InFrameDeletion 51/79 - 1
2-170038728-T-C c.9947A>G p.N3316S Missense 51/79 - 1
2-170038730-G-C c.9945C>G p.N3315K Missense 51/79 - 1
2-170038730-G-T c.9945C>A p.N3315K Missense 51/79 - 2
2-170038731-T-C c.9944A>G p.N3315S Missense 51/79 - 3
2-170038733-G-T c.9942C>A p.A3314= Synonymous 51/79 - 1
2-170038735-C-T c.9940G>A p.A3314T Missense 51/79 - 1
2-170038737-T-A c.9938A>T p.D3313V Missense 51/79 - 1
2-170038738-C-T c.9937G>A p.D3313N Missense 51/79 - 7
2-170038740-A-G c.9935T>C p.V3312A Missense 51/79 - 1
2-170038743-C-T c.9932G>A p.C3311Y Missense 51/79 - 2
2-170038745-G-C c.9930C>G p.H3310Q Missense 51/79 - 1
2-170038748-C-T c.9927G>A p.Q3309= Synonymous 51/79 - 2
2-170038750-G-T c.9925C>A p.Q3309K Missense 51/79 - 1
2-170038756-G-T c.9919C>A p.L3307M Missense 51/79 - 1
2-170038760-G-A c.9915C>T p.R3305= Synonymous 51/79 - 2
2-170038760-G-C c.9915C>G p.R3305= Synonymous 51/79 - 1
2-170038760-G-T c.9915C>A p.R3305= Synonymous 51/79 - 1
2-170038761-C-T c.9914G>A p.R3305H Missense 51/79 - 16
2-170038762-G-A c.9913C>T p.R3305C Missense 51/79 - 2
2-170038764-C-A c.9911G>T p.R3304L Missense 51/79 - 1
2-170038764-C-T c.9911G>A p.R3304H Missense 51/79 - 2
2-170038765-G-A c.9910C>T p.R3304C Missense 51/79 - 1
2-170038765-G-T c.9910C>A p.R3304S Missense 51/79 - 2
2-170038766-G-C c.9909C>G p.H3303Q Missense 51/79 - 1
2-170038768-G-A c.9907C>T p.H3303Y Missense 51/79 - 1
2-170038770-C-G c.9905G>C p.G3302A Missense 51/79 - 1
2-170038771-C-G c.9904G>C p.G3302R Missense 51/79 - 1
2-170038771-C-T c.9904G>A p.G3302R Missense 51/79 - 5
2-170038776-T-C c.9899A>G p.N3300S Missense 51/79 - 1
2-170038780-G-A c.9895C>T p.L3299F Missense 51/79 - 4
2-170038785-G-C c.9890C>G p.S3297C Missense 51/79 - 2
2-170038787-G-A c.9888C>T p.V3296= Synonymous 51/79 - 1
2-170038795-G-A c.9880C>T p.L3294F Missense 51/79 - 3
2-170038797-C-T c.9878G>A p.G3293D Missense 51/79 - 1
2-170038798-C-A c.9877G>T p.G3293C Missense 51/79 - 1
2-170038798-C-T c.9877G>A p.G3293S Missense 51/79 - 1
2-170038800-T-C c.9875A>G p.D3292G Missense 51/79 - 2
2-170038805-G-A c.9870C>T p.R3290= Synonymous 51/79 - 3
2-170038805-G-C c.9870C>G p.R3290= Synonymous 51/79 - 1
2-170038805-G-T c.9870C>A p.R3290= Synonymous 51/79 - 1
2-170038806-C-T c.9869G>A p.R3290H Missense 51/79 - 2
2-170038807-G-A c.9868C>T p.R3290C Missense 51/79 - 6
2-170038808-G-A c.9867C>T p.A3289= Synonymous 51/79 - 1
2-170038809-G-A c.9866C>T p.A3289V Missense 51/79 - 2
2-170038809-G-T c.9866C>A p.A3289D Missense 51/79 - 1
2-170038810-C-G c.9865G>C p.A3289P Missense 51/79 - 1
2-170038825-G-A c.9850C>T p.L3284F Missense 51/79 - 1
2-170038825-G-C c.9850C>G p.L3284V Missense 51/79 - 2
2-170038826-C-T c.9849G>A p.K3283= Synonymous 51/79 - 1
2-170038901-C-A c.9846-72G>T - IntronicSNV - 50/78 1
2-170039035-T-A c.9846-206A>T - IntronicSNV - 50/78 1
2-170039035-T-G c.9846-206A>C - IntronicSNV - 50/78 1
2-170041593-G-C c.9845+420C>G - IntronicSNV - 50/78 1
2-170041695-C-T c.9845+318G>A - IntronicSNV - 50/78 1
2-170042020-C-T c.9838G>A p.V3280I Missense 50/79 - 2
2-170042028-A-G c.9830T>C p.V3277A Missense 50/79 - 1
2-170042032-C-A c.9826G>T p.A3276S Missense 50/79 - 1
2-170042037-C-T c.9821G>A p.S3274N Missense 50/79 - 1
2-170042039-T-G c.9819A>C p.E3273D Missense 50/79 - 1
2-170042044-C-A c.9814G>T p.A3272S Missense 50/79 - 1
2-170042044-C-G c.9814G>C p.A3272P Missense 50/79 - 1
2-170042046-G-A c.9812C>T p.A3271V Missense 50/79 - 1
2-170042047-C-T c.9811G>A p.A3271T Missense 50/79 - 2
2-170042049-G-A c.9809C>T p.P3270L Missense 50/79 - 2
2-170042050-G-A c.9808C>T p.P3270S Missense 50/79 - 1
2-170042053-G-A c.9805C>T p.L3269= Synonymous 50/79 - 1
2-170042062-T-G c.9796A>C p.N3266H Missense 50/79 - 2
2-170042065-T-A c.9793A>T p.I3265L Missense 50/79 - 1
2-170042065-T-C c.9793A>G p.I3265V Missense 50/79 - 1
2-170042066-G-A c.9792C>T p.I3264= Synonymous 50/79 - 3
2-170042066-G-C c.9792C>G p.I3264M Missense 50/79 - 1
2-170042067-A-G c.9791T>C p.I3264T Missense 50/79 - 2
2-170042071-T-C c.9787A>G p.T3263A Missense 50/79 - 2
2-170042075-C-T c.9783G>A p.K3261= Synonymous 50/79 - 1
2-170042076-T-C c.9782A>G p.K3261R Missense 50/79 - 1
2-170042079-T-C c.9779A>G p.N3260S Missense 50/79 - 1
2-170042092-G-A c.9766C>T p.L3256= Synonymous 50/79 - 1
2-170042093-A-T c.9765T>A p.F3255L Missense 50/79 - 2
2-170042098-T-C c.9760A>G p.M3254V Missense 50/79 - 2
2-170042100-C-G c.9758G>C p.R3253T Missense 50/79 - 1
2-170042100-C-T c.9758G>A p.R3253K Missense 50/79 - 2
2-170042104-C-G c.9754G>C p.E3252Q Missense 50/79 - 2
2-170042106-A-T c.9752T>A p.I3251N Missense 50/79 - 3
2-170042109-A-G c.9749T>C p.V3250A Missense 50/79 - 3
2-170042114-CCT-ATG c.9742_9744delinsCAT p.R3248H Missense 50/79 - 1
2-170042115-C-T c.9743G>A p.R3248K Missense 50/79 - 1
2-170042117-C-A c.9741G>T p.Q3247H Missense 50/79 - 1
2-170042117-C-G c.9741G>C p.Q3247H Missense 50/79 - 1
2-170042121-G-T c.9737C>A p.T3246K Missense 50/79 - 1
2-170042123-A-T c.9735T>A p.D3245E Missense 50/79 - 1
2-170042125-C-A c.9733G>T p.D3245Y Missense 50/79 - 2
2-170042125-C-T c.9733G>A p.D3245N Missense 50/79 - 2
2-170042127-A-G c.9731T>C p.I3244T Missense 50/79 - 2
2-170042129-C-T c.9729G>A p.W3243* Nonsense 50/79 - 1
2-170042130-CCAATACAATCTCTTCTCTACTCGGTCAAA-C c.9700_9728del p.F3234Dfs*2 Frameshift 50/79 - 1
2-170042139-C-A c.9719G>T p.R3240I Missense 50/79 - 1
2-170042139-C-T c.9719G>A p.R3240K Missense 50/79 - 1
2-170042141-C-T c.9717G>A p.K3239= Synonymous 50/79 - 2
2-170042143-T-C c.9715A>G p.K3239E Missense 50/79 - 2
2-170042151-C-A c.9707G>T p.R3236L Missense 50/79 - 1
2-170042151-C-T c.9707G>A p.R3236Q Missense 50/79 - 2
2-170042152-G-A c.9706C>T p.R3236* Nonsense 50/79 - 1
2-170042152-G-T c.9706C>A p.R3236= Synonymous 50/79 - 3
2-170042155-C-T c.9703G>A p.D3235N Missense 50/79 - 1
2-170042155-CA-C c.9702del p.F3234Lfs*4 Frameshift 50/79 - 1
2-170042164-A-G c.9694T>C p.L3232= Synonymous 50/79 - 1
2-170042167-C-A c.9691G>T p.A3231S Missense 50/79 - 2
2-170042167-C-T c.9691G>A p.A3231T Missense 50/79 - 2
2-170042168-C-A c.9690G>T p.V3230= Synonymous 50/79 - 3
2-170042168-C-G c.9690G>C p.V3230= Synonymous 50/79 - 1
2-170042168-C-T c.9690G>A p.V3230= Synonymous 50/79 - 1
2-170042173-C-A c.9685G>T p.V3229F Missense 50/79 - 2
2-170042175-T-C c.9683A>G p.N3228S Missense 50/79 - 3
2-170042176-T-C c.9682A>G p.N3228D Missense 50/79 - 2
2-170042177-G-A c.9681C>T p.D3227= Synonymous 50/79 - 1
2-170042177-G-C c.9681C>G p.D3227E Missense 50/79 - 1
2-170042177-G-T c.9681C>A p.D3227E Missense 50/79 - 2
2-170042184-C-T c.9674G>A p.G3225E Missense 50/79 - 9
2-170042185-C-T c.9673G>A p.G3225R Missense 50/79 - 2
2-170042192-G-C c.9666C>G p.I3222M Missense 50/79 - 1
2-170042194-T-C c.9664A>G p.I3222V Missense 50/79 - 1
2-170042196-A-C c.9662T>G p.L3221R Missense 50/79 - 2
2-170042197-G-A c.9661C>T p.L3221F Missense 50/79 - 4
2-170042206-A-C c.9652T>G p.F3218V Missense 50/79 - 1
2-170042208-T-C c.9650A>G p.Y3217C Missense 50/79 - 4
2-170042209-A-C c.9649T>G p.Y3217D Missense 50/79 - 2
2-170042211-C-A c.9647G>T p.G3216V Missense 50/79 - 1
2-170042213-A-C c.9645T>G p.D3215E Missense 50/79 - 1
2-170042220-G-T c.9638C>A p.T3213N Missense 50/79 - 1
2-170042224-A-C c.9634T>G p.L3212V Missense 50/79 - 1
2-170042229-C-T c.9629G>A p.R3210K Missense 50/79 - 1
2-170042231-CAAATAGTAACGGTTGCTAA-C c.9608_9626del p.F3203* Frameshift 50/79 - 1
2-170042238-T-C c.9620A>G p.Y3207C Missense 50/79 - 1
2-170042241-C-T c.9617G>A p.R3206H Missense 50/79 - 7
2-170042242-G-A c.9616C>T p.R3206C Missense 50/79 - 2
2-170042243-G-C c.9615C>G p.N3205K Missense 50/79 - 2
2-170042244-T-C c.9614A>G p.N3205S Missense 50/79 - 1
2-170042245-T-C c.9613A>G p.N3205D Missense 50/79 - 18
2-170042248-TAAA-T c.9607_9609del p.F3203del InFrameDeletion 50/79 - 1
2-170042252-A-C c.9606T>G p.I3202M Missense 50/79 - 4
2-170042248-TA-T c.9609del p.F3203Lfs*7 Frameshift 50/79 - 1
2-170042253-A-G c.9605T>C p.I3202T Missense 50/79 - 2
2-170042254-T-A c.9604A>T p.I3202F Missense 50/79 - 1
2-170042254-T-C c.9604A>G p.I3202V Missense 50/79 - 1
2-170042263-G-T c.9595C>A p.P3199T Missense 50/79 - 1
2-170042266-C-T c.9592G>A p.E3198K Missense 50/79 - 4
2-170042267-G-A c.9591C>T p.I3197= Synonymous 50/79 - 2
2-170042272-T-C c.9586A>G p.N3196D Missense 50/79 - 1
2-170042274-C-T c.9584G>A p.S3195N Missense 50/79 - 1
2-170042280-T-G c.9578A>C p.Q3193P Missense 50/79 - 1
2-170042283-C-T c.9575G>A p.R3192Q Missense 50/79 - 7
2-170042284-G-A c.9574C>T p.R3192W Missense 50/79 - 4
2-170042285-G-A c.9573C>T p.C3191= Synonymous 50/79 - 1
2-170042289-G-T c.9569C>A p.T3190N Missense 50/79 - 1
2-170042290-T-G c.9568A>C p.T3190P Missense 50/79 - 4
2-170042295-C-T c.9563G>A p.G3188E Missense 50/79 - 3
2-170042300-T-C c.9558A>G p.P3186= Synonymous 50/79 - 1
2-170042302-G-T c.9556C>A p.P3186T Missense 50/79 - 5
2-170042303-T-C c.9555A>G p.E3185= Synonymous 50/79 - 1
2-170042307-C-G c.9551G>C p.R3184P Missense 50/79 - 1
2-170042308-G-A c.9550C>T p.R3184* Nonsense 50/79 - 9
2-170042310-A-T c.9548T>A p.L3183H Missense 50/79 - 1
2-170042313-T-A c.9545A>T p.Y3182F Missense 50/79 - 1
2-170042316-C-A c.9542G>T p.G3181V Missense 50/79 - 1
2-170042316-C-T c.9542G>A p.G3181D Missense 50/79 - 1
2-170042318-T-C c.9540A>G p.P3180= Synonymous 50/79 - 1
2-170042319-G-A c.9539C>T p.P3180L Missense 50/79 - 2
2-170042322-G-T c.9536C>A p.A3179D Missense 50/79 - 1
2-170042323-C-A c.9535G>T p.A3179S Missense 50/79 - 2
2-170042328-T-C c.9530A>G p.K3177R Missense 50/79 - 2
2-170042331-C-T c.9527G>A p.C3176Y Missense 50/79 - 2
2-170042335-T-G c.9523A>C p.I3175L Missense 50/79 - 1
2-170042337-T-A c.9521A>T p.Y3174F Missense 50/79 - 2
2-170042343-C-T c.9515G>A p.G3172D Missense 50/79 - 1
2-170042345-T-A c.9513A>T p.I3171= Synonymous 50/79 - 1
2-170042345-T-G c.9513A>C p.I3171= Synonymous 50/79 - 2
2-170042346-A-G c.9512T>C p.I3171T Missense 50/79 - 1
2-170042350-C-T c.9508G>A p.V3170I Missense 50/79 - 2
2-170042355-T-C c.9503A>G p.E3168G Missense 50/79 - 1
2-170042356-C-A c.9502G>T p.E3168* Nonsense 50/79 - 1
2-170042356-C-T c.9502G>A p.E3168K Missense 50/79 - 2
2-170042360-C-T c.9498G>A p.K3166= Synonymous 50/79 - 2
2-170042361-T-A c.9497A>T p.K3166M Missense 50/79 - 1
2-170042361-T-C c.9497A>G p.K3166R Missense 50/79 - 1
2-170042362-T-C c.9496A>G p.K3166E Missense 50/79 - 1
2-170042366-G-C c.9492C>G p.S3164R Missense 50/79 - 2
2-170042366-G-T c.9492C>A p.S3164R Missense 50/79 - 2
2-170042368-T-C c.9490A>G p.S3164G Missense 50/79 - 2
2-170042372-G-A c.9486C>T p.V3162= Synonymous 50/79 - 1
2-170042372-GAC-G c.9484_9485del p.V3162Lfs*2 Frameshift 50/79 - 3
2-170042374-C-T c.9484G>A p.V3162I Missense 50/79 - 2
2-170042377-A-T c.9481T>A p.F3161I Missense 50/79 - 1
2-170042379-G-A c.9479C>T p.P3160L Missense 50/79 - 1
2-170042381-C-T c.9477G>A p.M3159I Missense 50/79 - 1
2-170042383-T-A c.9475A>T p.M3159L Missense 50/79 - 1
2-170042386-TC-T c.9472del p.E3158Rfs*13 Frameshift 50/79 - 1
2-170042388-G-A c.9470C>T p.T3157I Missense 50/79 - 1
2-170042389-T-A c.9469A>T p.T3157S Missense 50/79 - 1
2-170042389-T-C c.9469A>G p.T3157A Missense 50/79 - 1
2-170042392-A-C c.9466T>G p.C3156G Missense 50/79 - 1
2-170042395-C-G c.9463G>C p.E3155Q Missense 50/79 - 2
2-170042398-C-G c.9460G>C p.D3154H Missense 50/79 - 2
2-170042400-A-G c.9458T>C p.I3153T Missense 50/79 - 2
2-170042401-T-C c.9457A>G p.I3153V Missense 50/79 - 1
2-170042415-C-T c.9443G>A p.R3148Q Missense 50/79 - 2
2-170042414-C-A c.9444G>T p.R3148= Synonymous 50/79 - 2
2-170042414-C-G c.9444G>C p.R3148= Synonymous 50/79 - 2
2-170042414-C-T c.9444G>A p.R3148= Synonymous 50/79 - 2
2-170042416-G-A c.9442C>T p.R3148W Missense 50/79 - 2
2-170042416-G-T c.9442C>A p.R3148= Synonymous 50/79 - 5
2-170042418-T-C c.9440A>G p.K3147R Missense 50/79 - 3
2-170042419-T-C c.9439A>G p.K3147E Missense 50/79 - 1
2-170042421-T-G c.9437A>C p.D3146A Missense 50/79 - 2
2-170042424-G-A c.9434C>T p.S3145F Missense 50/79 - 2
2-170042426-C-T c.9432G>A p.M3144I Missense 50/79 - 1
2-170042428-T-C c.9430A>G p.M3144V Missense 50/79 - 1
2-170042429-G-A c.9429C>T p.L3143= Synonymous 50/79 - 1
2-170042429-G-C c.9429C>G p.L3143= Synonymous 50/79 - 1
2-170042429-G-T c.9429C>A p.L3143= Synonymous 50/79 - 2
2-170042432-C-A c.9426G>T p.K3142N Missense 50/79 - 2
2-170042433-T-C c.9425A>G p.K3142R Missense 50/79 - 1
2-170042434-T-C c.9424A>G p.K3142E Missense 50/79 - 1
2-170042440-C-T c.9418G>A p.G3140S Missense 50/79 - 1
2-170042445-C-A c.9413G>T p.R3138L Missense 50/79 - 4
2-170042445-C-T c.9413G>A p.R3138H Missense 50/79 - 6
2-170042446-G-A c.9412C>T p.R3138C Missense 50/79 - 3
2-170042446-G-T c.9412C>A p.R3138S Missense 50/79 - 1
2-170042448-C-G c.9410G>C p.C3137S Missense 50/79 - 1
2-170042449-A-C c.9409T>G p.C3137G Missense 50/79 - 1
2-170042449-A-T c.9409T>A p.C3137S Missense 50/79 - 1
2-170042454-C-T c.9404G>A p.C3135Y Missense 50/79 - 1
2-170042457-T-C c.9401A>G p.Y3134C Missense 50/79 - 2
2-170042458-A-G c.9400T>C p.Y3134H Missense 50/79 - 1
2-170042459-G-T c.9399C>A p.F3133L Missense 50/79 - 1
2-170042460-A-G c.9398T>C p.F3133S Missense 50/79 - 1
2-170042461-A-T c.9397T>A p.F3133I Missense 50/79 - 1
2-170042466-G-C c.9392C>G p.T3131S Missense 50/79 - 1
2-170042467-T-G c.9391A>C p.T3131P Missense 50/79 - 1
2-170042472-G-A c.9386C>T p.T3129I Missense 50/79 - 1
2-170042478-G-A c.9380C>T p.T3127I Missense 50/79 - 1
2-170042479-T-G c.9379A>C p.T3127P Missense 50/79 - 2
2-170042481-C-A c.9377G>T p.C3126F Missense 50/79 - 1
2-170042481-C-G c.9377G>C p.C3126S Missense 50/79 - 1
2-170042491-C-T c.9367G>A p.D3123N Missense 50/79 - 3
2-170042492-G-C c.9366C>G p.C3122W Missense 50/79 - 1
2-170042496-C-A c.9362G>T p.G3121V Missense 50/79 - 1
2-170042496-CC-GT c.9361_9362delinsAC p.G3121T Missense 50/79 - 1
2-170042499-ACT-A c.9358_9359del p.S3120Wfs*26 Frameshift 50/79 - 2
2-170042503-T-A c.9355A>T p.I3119F Missense 50/79 - 1
2-170042504-TG-AT c.9353_9354delinsAT p.S3118Y Missense 50/79 - 1
2-170042505-G-A c.9353C>T p.S3118L Missense 50/79 - 2
2-170042505-G-T c.9353C>A p.S3118* Nonsense 50/79 - 1
2-170042510-G-C c.9348C>G p.D3116E Missense 50/79 - 2
2-170042510-G-T c.9348C>A p.D3116E Missense 50/79 - 4
2-170042516-G-A c.9342C>T p.C3114= Synonymous 50/79 - 2
2-170042517-C-T c.9341G>A p.C3114Y Missense 50/79 - 1
2-170042521-C-T c.9337G>A p.E3113K Missense 50/79 - 1
2-170042524-T-C c.9334A>G p.N3112D Missense 50/79 - 1
2-170042527-T-C c.9331A>G p.I3111V Missense 50/79 - 1
2-170042529-C-T c.9329G>A p.G3110D Missense 50/79 - 1
2-170044482-C-A c.9326G>T p.C3109F Missense 49/79 - 1
2-170044485-C-G c.9323G>C p.G3108A Missense 49/79 - 1
2-170044490-C-G c.9318G>C p.E3106D Missense 49/79 - 1
2-170044493-A-C c.9315T>G p.D3105E Missense 49/79 - 1
2-170044495-C-T c.9313G>A p.D3105N Missense 49/79 - 7
2-170044496-G-A c.9312C>T p.S3104= Synonymous 49/79 - 1
2-170044497-C-T c.9311G>A p.S3104N Missense 49/79 - 4
2-170044498-T-C c.9310A>G p.S3104G Missense 49/79 - 1
2-170044499-G-C c.9309C>G p.N3103K Missense 49/79 - 1
2-170044499-G-T c.9309C>A p.N3103K Missense 49/79 - 1
2-170044509-C-T c.9299G>A p.C3100Y Missense 49/79 - 1
2-170044515-T-C c.9293A>G p.D3098G Missense 49/79 - 1
2-170044516-C-G c.9292G>C p.D3098H Missense 49/79 - 1
2-170044518-A-G c.9290T>C p.L3097P Missense 49/79 - 1
2-170044519-G-A c.9289C>T p.L3097= Synonymous 49/79 - 3
2-170044524-T-C c.9284A>G p.N3095S Missense 49/79 - 1
2-170044526-G-A c.9282C>T p.C3094= Synonymous 49/79 - 1
2-170044530-A-G c.9278T>C p.L3093P Missense 49/79 - 1
2-170044537-T-C c.9271A>G p.M3091V Missense 49/79 - 1
2-170044538-C-A c.9270G>T p.M3090I Missense 49/79 - 2
2-170044538-C-T c.9270G>A p.M3090I Missense 49/79 - 2
2-170044543-C-T c.9265G>A p.E3089K Missense 49/79 - 9
2-170044544-G-A c.9264C>T p.I3088= Synonymous 49/79 - 4
2-170044544-G-T c.9264C>A p.I3088= Synonymous 49/79 - 1
2-170044551-C-A c.9257G>T p.R3086L Missense 49/79 - 1
2-170044551-C-T c.9257G>A p.R3086H Missense 49/79 - 2
2-170044552-G-A c.9256C>T p.R3086C Missense 49/79 - 8
2-170044554-C-G c.9254G>C p.G3085A Missense 49/79 - 2
2-170044560-T-C c.9248A>G p.D3083G Missense 49/79 - 1
2-170044561-C-T c.9247G>A p.D3083N Missense 49/79 - 2
2-170044564-A-G c.9244T>C p.C3082R Missense 49/79 - 1
2-170044566-T-G c.9242A>C p.K3081T Missense 49/79 - 1
2-170044573-C-T c.9235G>A p.E3079K Missense 49/79 - 3
2-170044574-G-A c.9234C>T p.H3078= Synonymous 49/79 - 1
2-170044576-G-C c.9232C>G p.H3078D Missense 49/79 - 3
2-170044579-G-A c.9229C>T p.P3077S Missense 49/79 - 3
2-170044581-G-A c.9227C>T p.P3076L Missense 49/79 - 1
2-170044582-G-A c.9226C>T p.P3076S Missense 49/79 - 3
2-170044584-C-T c.9224G>A p.C3075Y Missense 49/79 - 1
2-170044586-C-A c.9222G>T p.T3074= Synonymous 49/79 - 1
2-170044586-C-G c.9222G>C p.T3074= Synonymous 49/79 - 1
2-170044586-C-T c.9222G>A p.T3074= Synonymous 49/79 - 2
2-170044587-G-A c.9221C>T p.T3074M Missense 49/79 - 2
2-170044590-G-T c.9218C>A p.P3073H Missense 49/79 - 1
2-170044591-G-T c.9217C>A p.P3073T Missense 49/79 - 2
2-170044593-T-C c.9215A>G p.E3072G Missense 49/79 - 2
2-170044594-C-T c.9214G>A p.E3072K Missense 49/79 - 1
2-170044596-G-A c.9212C>T p.P3071L Missense 49/79 - 2
2-170044596-G-C c.9212C>G p.P3071R Missense 49/79 - 1
2-170044597-G-A c.9211C>T p.P3071S Missense 49/79 - 1
2-170044599-G-T c.9209C>A p.T3070N Missense 49/79 - 1
2-170044602-T-A c.9206A>T p.H3069L Missense 49/79 - 2
2-170044603-G-A c.9205C>T p.H3069Y Missense 49/79 - 1
2-170044605-C-T c.9203G>A p.C3068Y Missense 49/79 - 2
2-170044606-A-G c.9202T>C p.C3068R Missense 49/79 - 1
2-170044610-G-A c.9198C>T p.H3066= Synonymous 49/79 - 1
2-170044611-T-A c.9197A>T p.H3066L Missense 49/79 - 2
2-170044612-G-A c.9196C>T p.H3066Y Missense 49/79 - 1
2-170044613-C-G c.9195G>C p.M3065I Missense 49/79 - 1
2-170044614-A-G c.9194T>C p.M3065T Missense 49/79 - 1
2-170044616-C-G c.9192G>C p.L3064= Synonymous 49/79 - 4
2-170044616-C-T c.9192G>A p.L3064= Synonymous 49/79 - 1
2-170044619-C-A c.9189G>T p.E3063D Missense 49/79 - 1
2-170044619-C-G c.9189G>C p.E3063D Missense 49/79 - 1
2-170044626-G-A c.9182C>T p.S3061F Missense 49/79 - 5
2-170044630-C-G c.9178G>C p.G3060R Missense 49/79 - 3
2-170044630-C-T c.9178G>A p.G3060R Missense 49/79 - 11
2-170044631-G-A c.9177C>T p.D3059= Synonymous 49/79 - 1
2-170044631-G-T c.9177C>A p.D3059E Missense 49/79 - 1
2-170044634-TCC-GCT c.9172_9174delinsAGC p.G3058S Missense 49/79 - 1
2-170044635-C-A c.9173G>T p.G3058V Missense 49/79 - 1
2-170044637-A-C c.9171T>G p.C3057W Missense 49/79 - 2
2-170044639-A-G c.9169T>C p.C3057R Missense 49/79 - 1
2-170044642-C-T c.9166G>A p.D3056N Missense 49/79 - 2
2-170044648-C-A c.9160G>T p.D3054Y Missense 49/79 - 3
2-170044651-C-T c.9157G>A p.E3053K Missense 49/79 - 1
2-170044654-C-A c.9154G>T p.D3052Y Missense 49/79 - 3
2-170044658-G-A c.9150C>T p.V3050= Synonymous 49/79 - 1
2-170044658-G-T c.9150C>A p.V3050= Synonymous 49/79 - 1
2-170044659-A-G c.9149T>C p.V3050A Missense 49/79 - 1
2-170044660-C-T c.9148G>A p.V3050I Missense 49/79 - 10
2-170044661-G-A c.9147C>T p.F3049= Synonymous 49/79 - 5
2-170044661-G-T c.9147C>A p.F3049L Missense 49/79 - 1
2-170044665-G-A c.9143C>T p.T3048I Missense 49/79 - 1
2-170044668-T-C c.9140A>G p.K3047R Missense 49/79 - 1
2-170044671-C-T c.9137G>A p.S3046N Missense 49/79 - 1
2-170044675-T-C c.9133A>G p.I3045V Missense 49/79 - 2
2-170044680-C-A c.9128G>T p.R3043L Missense 49/79 - 1
2-170044680-C-T c.9128G>A p.R3043H Missense 49/79 - 12
2-170044681-G-A c.9127C>T p.R3043C Missense 49/79 - 11
2-170044681-G-T c.9127C>A p.R3043S Missense 49/79 - 1
2-170044683-C-T c.9125G>A p.G3042E Missense 49/79 - 3
2-170044684-C-G c.9124G>C p.G3042R Missense 49/79 - 3
2-170044684-C-T c.9124G>A p.G3042R Missense 49/79 - 6
2-170044685-G-A c.9123C>T p.N3041= Synonymous 49/79 - 1
2-170044687-T-C c.9121A>G p.N3041D Missense 49/79 - 1
2-170044688-C-A c.9120G>T p.Q3040H Missense 49/79 - 1
2-170044688-C-G c.9120G>C p.Q3040H Missense 49/79 - 1
2-170044689-T-C c.9119A>G p.Q3040R Missense 49/79 - 3
2-170044692-C-A c.9116G>T p.C3039F Missense 49/79 - 1
2-170044695-G-A c.9113C>T p.T3038I Missense 49/79 - 1
2-170044702-G-A c.9106C>T p.Q3036* Nonsense 49/79 - 2
2-170044702-G-T c.9106C>A p.Q3036K Missense 49/79 - 1
2-170044705-T-A c.9103A>T p.N3035Y Missense 49/79 - 1
2-170044706-C-A c.9102G>T p.Q3034H Missense 49/79 - 1
2-170044706-C-G c.9102G>C p.Q3034H Missense 49/79 - 1
2-170044716-G-C c.9092C>G p.T3031S Missense 49/79 - 1
2-170044727-G-T c.9081C>A p.C3027* Nonsense 49/79 - 1
2-170044732-C-G c.9076G>C p.G3026R Missense 49/79 - 1
2-170044733-C-A c.9075G>T p.R3025S Missense 49/79 - 2
2-170044733-C-T c.9075G>A p.R3025= Synonymous 49/79 - 1
2-170044735-T-G c.9073A>C p.R3025= Synonymous 49/79 - 1
2-170044734-C-A c.9074G>T p.R3025M Missense 49/79 - 1
2-170044734-C-T c.9074G>A p.R3025K Missense 49/79 - 1
2-170044736-C-A c.9072G>T p.E3024D Missense 49/79 - 1
2-170044738-C-T c.9070G>A p.E3024K Missense 49/79 - 2
2-170044739-G-C c.9069C>G p.D3023E Missense 49/79 - 1
2-170044741-C-T c.9067G>A p.D3023N Missense 49/79 - 3
2-170044742-G-A c.9066C>T p.S3022= Synonymous 49/79 - 1
2-170044744-T-C c.9064A>G p.S3022G Missense 49/79 - 2
2-170044745-A-C c.9063T>G p.Y3021* Nonsense 49/79 - 1
2-170044745-A-G c.9063T>C p.Y3021= Synonymous 49/79 - 1
2-170044746-T-C c.9062A>G p.Y3021C Missense 49/79 - 1
2-170044746-T-G c.9062A>C p.Y3021S Missense 49/79 - 1
2-170044749-T-G c.9059A>C p.D3020A Missense 49/79 - 1
2-170044753-C-A c.9055G>T p.G3019C Missense 49/79 - 2
2-170044756-A-C c.9052T>G p.C3018G Missense 49/79 - 1
2-170044756-A-G c.9052T>C p.C3018R Missense 49/79 - 1
2-170044758-T-A c.9050A>T p.D3017V Missense 49/79 - 2
2-170044758-T-C c.9050A>G p.D3017G Missense 49/79 - 1
2-170044759-C-G c.9049G>C p.D3017H Missense 49/79 - 1
2-170044765-G-A c.9043C>T p.H3015Y Missense 49/79 - 1
2-170044766-C-T c.9042G>A p.R3014= Synonymous 49/79 - 1
2-170044767-C-T c.9041G>A p.R3014Q Missense 49/79 - 4
2-170044768-G-A c.9040C>T p.R3014W Missense 49/79 - 2
2-170044770-T-C c.9038A>G p.D3013G Missense 49/79 - 1
2-170044771-C-A c.9037G>T p.D3013Y Missense 49/79 - 1
2-170046850-C-T c.9032+1492G>A - IntronicSNV - 48/78 4
2-170047022-C-A c.9032+1320G>T - IntronicSNV - 48/78 1
2-170047022-C-T c.9032+1320G>A - IntronicSNV - 48/78 1
2-170048178-GT-G c.9032+163del - IntronicDeletion - 48/78 1
2-170048272-G-A c.9032+70C>T - IntronicSNV - 48/78 2
2-170048296-A-G c.9032+46T>C - IntronicSNV - 48/78 1
2-170048342-C-A c.9032G>T p.R3011M Missense 48/79 - 3
2-170048342-C-T c.9032G>A p.R3011K Missense 48/79 - 1
2-170048343-T-C c.9031A>G p.R3011G Missense 48/79 - 2
2-170048346-A-G c.9028T>C p.F3010L Missense 48/79 - 2
2-170048349-T-C c.9025A>G p.I3009V Missense 48/79 - 2
2-170048350-C-A c.9024G>T p.K3008N Missense 48/79 - 3
2-170048350-C-G c.9024G>C p.K3008N Missense 48/79 - 4
2-170048350-C-T c.9024G>A p.K3008= Synonymous 48/79 - 1
2-170048358-T-C c.9016A>G p.I3006V Missense 48/79 - 1
2-170048358-T-G c.9016A>C p.I3006L Missense 48/79 - 1
2-170048366-C-T c.9008G>A p.G3003E Missense 48/79 - 1
2-170048367-C-G c.9007G>C p.G3003R Missense 48/79 - 1
2-170048367-C-T c.9007G>A p.G3003R Missense 48/79 - 5
2-170048368-G-A c.9006C>T p.Y3002= Synonymous 48/79 - 1
2-170048369-T-C c.9005A>G p.Y3002C Missense 48/79 - 2
2-170048372-C-T c.9002G>A p.G3001D Missense 48/79 - 1
2-170048373-C-A c.9001G>T p.G3001C Missense 48/79 - 1
2-170048380-G-A c.8994C>T p.F2998= Synonymous 48/79 - 4
2-170048384-T-C c.8990A>G p.E2997G Missense 48/79 - 2
2-170048385-C-T c.8989G>A p.E2997K Missense 48/79 - 4
2-170048391-C-A c.8983G>T p.E2995* Nonsense 48/79 - 1
2-170048391-C-T c.8983G>A p.E2995K Missense 48/79 - 3
2-170048393-G-A c.8981C>T p.S2994F Missense 48/79 - 1
2-170048403-T-C c.8971A>G p.R2991G Missense 48/79 - 1
2-170048404-C-A c.8970G>T p.R2990S Missense 48/79 - 1
2-170048404-C-G c.8970G>C p.R2990S Missense 48/79 - 1
2-170048406-T-A c.8968A>T p.R2990W Missense 48/79 - 1
2-170048413-A-C c.8961T>G p.N2987K Missense 48/79 - 1
2-170048417-T-C c.8957A>G p.Q2986R Missense 48/79 - 1
2-170048418-G-A c.8956C>T p.Q2986* Nonsense 48/79 - 3
2-170048421-T-C c.8953A>G p.N2985D Missense 48/79 - 1
2-170048422-C-T c.8952G>A p.E2984= Synonymous 48/79 - 2
2-170048424-C-T c.8950G>A p.E2984K Missense 48/79 - 3
2-170048425-A-C c.8949T>G p.D2983E Missense 48/79 - 1
2-170048425-A-T c.8949T>A p.D2983E Missense 48/79 - 1
2-170048427-C-T c.8947G>A p.D2983N Missense 48/79 - 2
2-170048428-G-A c.8946C>T p.Y2982= Synonymous 48/79 - 2
2-170048429-T-C c.8945A>G p.Y2982C Missense 48/79 - 1
2-170048433-C-T c.8941G>A p.G2981S Missense 48/79 - 2
2-170048435-T-C c.8939A>G p.D2980G Missense 48/79 - 1
2-170048438-G-A c.8936C>T p.T2979I Missense 48/79 - 1
2-170048441-CA-GT c.8932_8933delinsAC p.C2978T Missense 48/79 - 1
2-170048445-C-T c.8929G>A p.D2977N Missense 48/79 - 2
2-170048451-C-T c.8923G>A p.D2975N Missense 48/79 - 5
2-170048452-G-A c.8922C>T p.G2974= Synonymous 48/79 - 2
2-170048452-G-C c.8922C>G p.G2974= Synonymous 48/79 - 1
2-170048452-G-T c.8922C>A p.G2974= Synonymous 48/79 - 1
2-170048459-C-T c.8915G>A p.C2972Y Missense 48/79 - 2
2-170048464-C-A c.8910G>T p.W2970C Missense 48/79 - 2
2-170048464-C-G c.8910G>C p.W2970C Missense 48/79 - 1
2-170048465-C-A c.8909G>T p.W2970L Missense 48/79 - 1
2-170048474-G-A c.8900C>T p.P2967L Missense 48/79 - 2
2-170048475-G-C c.8899C>G p.P2967A Missense 48/79 - 1
2-170048478-T-A c.8896A>T p.I2966F Missense 48/79 - 2
2-170048480-C-G c.8894G>C p.C2965S Missense 48/79 - 1
2-170048482-C-A c.8892G>T p.R2964S Missense 48/79 - 1
2-170048482-C-T c.8892G>A p.R2964= Synonymous 48/79 - 5
2-170048484-T-G c.8890A>C p.R2964= Synonymous 48/79 - 4
2-170048483-C-T c.8891G>A p.R2964K Missense 48/79 - 8
2-170048485-C-T c.8889G>A p.R2963= Synonymous 48/79 - 1
2-170048487-T-G c.8887A>C p.R2963= Synonymous 48/79 - 1
2-170048490-C-A c.8884G>T p.D2962Y Missense 48/79 - 1
2-170048491-CG-AT c.8882_8883delinsAT p.P2961H Missense 48/79 - 1
2-170048491-C-T c.8883G>A p.P2961= Synonymous 48/79 - 1
2-170048492-G-A c.8882C>T p.P2961L Missense 48/79 - 2
2-170048492-G-T c.8882C>A p.P2961Q Missense 48/79 - 1
2-170048498-C-G c.8876G>C p.R2959T Missense 48/79 - 1
2-170048498-C-T c.8876G>A p.R2959K Missense 48/79 - 4
2-170048501-T-C c.8873A>G p.D2958G Missense 48/79 - 1
2-170048502-C-A c.8872G>T p.D2958Y Missense 48/79 - 4
2-170048504-T-C c.8870A>G p.N2957S Missense 48/79 - 1
2-170048508-C-T c.8866G>A p.V2956I Missense 48/79 - 1
2-170048512-G-A c.8862C>T p.L2954= Synonymous 48/79 - 4
2-170048518-C-G c.8856G>C p.E2952D Missense 48/79 - 1
2-170048519-T-A c.8855A>T p.E2952V Missense 48/79 - 1
2-170048520-C-A c.8854G>T p.E2952* Nonsense 48/79 - 1
2-170048520-C-T c.8854G>A p.E2952K Missense 48/79 - 2
2-170048521-G-A c.8853C>T p.S2951= Synonymous 48/79 - 1
2-170048521-G-C c.8853C>G p.S2951= Synonymous 48/79 - 1
2-170048521-G-T c.8853C>A p.S2951= Synonymous 48/79 - 1
2-170048522-G-A c.8852C>T p.S2951F Missense 48/79 - 1
2-170048522-G-C c.8852C>G p.S2951C Missense 48/79 - 1
2-170048526-C-A c.8848G>T p.D2950Y Missense 48/79 - 2
2-170048526-C-T c.8848G>A p.D2950N Missense 48/79 - 5
2-170048527-C-A c.8847G>T p.S2949= Synonymous 48/79 - 2
2-170048527-C-G c.8847G>C p.S2949= Synonymous 48/79 - 2
2-170048527-C-T c.8847G>A p.S2949= Synonymous 48/79 - 4
2-170048528-G-A c.8846C>T p.S2949L Missense 48/79 - 6
2-170048531-C-A c.8843G>T p.C2948F Missense 48/79 - 1
2-170048533-G-A c.8841C>T p.N2947= Synonymous 48/79 - 2
2-170048540-T-C c.8834A>G p.N2945S Missense 48/79 - 1
2-170050002-T-G c.8830+269A>C - IntronicSNV - 47/78 1
2-170050001-GT-G c.8830+269del - IntronicDeletion - 47/78 1
2-170050143-G-A c.8830+128C>T - IntronicSNV - 47/78 1
2-170050270-C-T c.8830+1G>A - IntronicSNV - 47/78 1
2-170050271-G-C c.8830C>G p.Q2944E Missense 47/79 - 1
2-170050274-A-G c.8827T>C p.C2943R Missense 47/79 - 1
2-170050275-C-T c.8826G>A p.Q2942= Synonymous 47/79 - 1
2-170050277-G-T c.8824C>A p.Q2942K Missense 47/79 - 1
2-170050283-T-A c.8818A>T p.R2940W Missense 47/79 - 1
2-170050288-T-C c.8813A>G p.D2938G Missense 47/79 - 1
2-170050292-C-T c.8809G>A p.E2937K Missense 47/79 - 6
2-170050293-G-A c.8808C>T p.D2936= Synonymous 47/79 - 2
2-170050295-C-A c.8806G>T p.D2936Y Missense 47/79 - 1
2-170050301-T-C c.8800A>G p.M2934V Missense 47/79 - 1
2-170050302-A-G c.8799T>C p.D2933= Synonymous 47/79 - 1
2-170050304-C-T c.8797G>A p.D2933N Missense 47/79 - 1
2-170050308-A-C c.8793T>G p.C2931W Missense 47/79 - 1
2-170050316-T-C c.8785A>G p.N2929D Missense 47/79 - 2
2-170050317-A-C c.8784T>G p.D2928E Missense 47/79 - 1
2-170050321-C-T c.8780G>A p.G2927D Missense 47/79 - 6
2-170050322-C-T c.8779G>A p.G2927S Missense 47/79 - 1
2-170050323-G-A c.8778C>T p.D2926= Synonymous 47/79 - 2
2-170050329-G-A c.8772C>T p.I2924= Synonymous 47/79 - 1
2-170050330-A-T c.8771T>A p.I2924N Missense 47/79 - 1
2-170050332-C-A c.8769G>T p.W2923C Missense 47/79 - 1
2-170050332-C-G c.8769G>C p.W2923C Missense 47/79 - 2
2-170050333-C-A c.8768G>T p.W2923L Missense 47/79 - 1
2-170050337-C-T c.8764G>A p.E2922K Missense 47/79 - 4
2-170050338-G-A c.8763C>T p.S2921= Synonymous 47/79 - 2
2-170050338-G-T c.8763C>A p.S2921R Missense 47/79 - 2
2-170050339-C-T c.8762G>A p.S2921N Missense 47/79 - 1
2-170050348-C-T c.8753G>A p.C2918Y Missense 47/79 - 2
2-170050350-CCT-ACA c.8749_8751delinsTGT p.R2917C Missense 47/79 - 1
2-170050354-C-T c.8747G>A p.G2916E Missense 47/79 - 3
2-170050357-C-A c.8744G>T p.G2915V Missense 47/79 - 1
2-170050357-C-G c.8744G>C p.G2915A Missense 47/79 - 1
2-170050359-A-C c.8742T>G p.D2914E Missense 47/79 - 2
2-170050360-T-C c.8741A>G p.D2914G Missense 47/79 - 1
2-170050365-C-T c.8736G>A p.K2912= Synonymous 47/79 - 3
2-170050366-T-C c.8735A>G p.K2912R Missense 47/79 - 1
2-170050370-A-T c.8731T>A p.F2911I Missense 47/79 - 1
2-170050375-T-A c.8726A>T p.D2909V Missense 47/79 - 1
2-170050375-T-C c.8726A>G p.D2909G Missense 47/79 - 1
2-170050386-TG-CA c.8714_8715inv p.T2905M Missense 47/79 - 1
2-170050390-C-T c.8711G>A p.R2904Q Missense 47/79 - 1
2-170050396-G-C c.8705C>G p.S2902C Missense 47/79 - 1
2-170050399-T-C c.8702A>G p.H2901R Missense 47/79 - 2
2-170050400-G-C c.8701C>G p.H2901D Missense 47/79 - 2
2-170050400-G-T c.8701C>A p.H2901N Missense 47/79 - 2
2-170050402-C-T c.8699G>A p.G2900D Missense 47/79 - 3
2-170050410-G-A c.8699-8C>T - IntronicSNV - 46/78 2
2-170050410-G-C c.8699-8C>G - IntronicSNV - 46/78 2
2-170050472-T-C c.8699-70A>G - IntronicSNV - 46/78 7
2-170050482-G-T c.8699-80C>A - IntronicSNV - 46/78 1
2-170051167-A-G c.8699-765T>C - IntronicSNV - 46/78 2
2-170052059-G-T c.8698+1362C>A - IntronicSNV - 46/78 1
2-170052208-G-A c.8698+1213C>T - IntronicSNV - 46/78 1
2-170053413-T-G c.8698+8A>C - IntronicSNV - 46/78 1
2-170053416-C-T c.8698+5G>A - IntronicSNV - 46/78 1
2-170053424-A-G c.8695T>C p.C2899R Missense 46/79 - 1
2-170053428-G-A c.8691C>T p.A2897= Synonymous 46/79 - 2
2-170053428-G-T c.8691C>A p.A2897= Synonymous 46/79 - 1
2-170053429-G-A c.8690C>T p.A2897V Missense 46/79 - 2
2-170053432-G-A c.8687C>T p.P2896L Missense 46/79 - 1
2-170053438-T-C c.8681A>G p.D2894G Missense 46/79 - 2
2-170053444-G-A c.8675C>T p.A2892V Missense 46/79 - 1
2-170053447-T-C c.8672A>G p.D2891G Missense 46/79 - 1
2-170053450-A-G c.8669T>C p.F2890S Missense 46/79 - 1
2-170053452-ACAAT-A c.8663_8666del p.D2888Vfs*19 Frameshift 46/79 - 1
2-170053457-C-T c.8662G>A p.D2888N Missense 46/79 - 1
2-170053459-G-A c.8660C>T p.T2887I Missense 46/79 - 1
2-170053462-T-A c.8657A>T p.E2886V Missense 46/79 - 2
2-170053463-C-T c.8656G>A p.E2886K Missense 46/79 - 1
2-170053466-G-A c.8653C>T p.Q2885* Nonsense 46/79 - 2
2-170053469-C-T c.8650G>A p.D2884N Missense 46/79 - 5
2-170053474-T-C c.8645A>G p.Y2882C Missense 46/79 - 2
2-170053475-A-G c.8644T>C p.Y2882H Missense 46/79 - 2
2-170053479-A-T c.8640T>A p.H2880Q Missense 46/79 - 1
2-170053480-T-C c.8639A>G p.H2880R Missense 46/79 - 1
2-170053481-G-A c.8638C>T p.H2880Y Missense 46/79 - 2
2-170053481-G-T c.8638C>A p.H2880N Missense 46/79 - 1
2-170053482-T-A c.8637A>T p.Q2879H Missense 46/79 - 1
2-170053484-G-T c.8635C>A p.Q2879K Missense 46/79 - 1
2-170053486-G-A c.8633C>T p.P2878L Missense 46/79 - 6
2-170053489-A-C c.8630T>G p.I2877S Missense 46/79 - 1
2-170053495-C-T c.8624G>A p.R2875H Missense 46/79 - 3
2-170053496-G-A c.8623C>T p.R2875C Missense 46/79 - 4
2-170053496-G-T c.8623C>A p.R2875S Missense 46/79 - 1
2-170053499-C-T c.8620G>A p.G2874R Missense 46/79 - 1
2-170053501-G-A c.8618C>T p.S2873F Missense 46/79 - 1
2-170053502-A-G c.8617T>C p.S2873P Missense 46/79 - 2
2-170053503-T-A c.8616A>T p.A2872= Synonymous 46/79 - 2
2-170053503-T-C c.8616A>G p.A2872= Synonymous 46/79 - 2
2-170053503-T-G c.8616A>C p.A2872= Synonymous 46/79 - 2
2-170053505-C-A c.8614G>T p.A2872S Missense 46/79 - 12
2-170053505-C-G c.8614G>C p.A2872P Missense 46/79 - 12
2-170053505-C-T c.8614G>A p.A2872T Missense 46/79 - 45
2-170053506-G-A c.8613C>T p.C2871= Synonymous 46/79 - 1
2-170053506-G-C c.8613C>G p.C2871W Missense 46/79 - 1
2-170053510-T-C c.8609A>G p.Q2870R Missense 46/79 - 1
2-170053516-T-G c.8603A>C p.E2868A Missense 46/79 - 1
2-170053517-C-G c.8602G>C p.E2868Q Missense 46/79 - 2
2-170053524-G-T c.8595C>A p.S2865R Missense 46/79 - 2
2-170053528-CA-GT c.8590_8591delinsAC p.C2864T Missense 46/79 - 1
2-170053530-C-A c.8589G>T p.T2863= Synonymous 46/79 - 1
2-170053530-C-G c.8589G>C p.T2863= Synonymous 46/79 - 1
2-170053530-CG-GA c.8588_8589delinsTC p.T2863I Missense 46/79 - 1
2-170053530-C-T c.8589G>A p.T2863= Synonymous 46/79 - 2
2-170053531-G-A c.8588C>T p.T2863M Missense 46/79 - 3
2-170053537-G-A c.8582C>T p.T2861I Missense 46/79 - 1
2-170053538-T-C c.8581A>G p.T2861A Missense 46/79 - 1
2-170053540-G-A c.8579C>T p.T2860I Missense 46/79 - 5
2-170053540-G-C c.8579C>G p.T2860S Missense 46/79 - 1
2-170053543-G-A c.8579-3C>T - IntronicSNV - 45/78 1
2-170053580-C-T c.8579-40G>A - IntronicSNV - 45/78 9
2-170054180-G-A c.8579-640C>T - IntronicSNV - 45/78 1
2-170054180-G-T c.8579-640C>A - IntronicSNV - 45/78 1
2-170054242-G-A c.8579-702C>T - IntronicSNV - 45/78 1
2-170054881-A-G c.8578+415T>C - IntronicSNV - 45/78 1
2-170054881-A-T c.8578+415T>A - IntronicSNV - 45/78 1
2-170055255-T-C c.8578+41A>G - IntronicSNV - 45/78 9
2-170055264-C-T c.8578+32G>A - IntronicSNV - 45/78 1
2-170055268-A-T c.8578+28T>A - IntronicSNV - 45/78 1
2-170055305-T-C c.8569A>G p.T2857A Missense 45/79 - 1
2-170055306-A-C c.8568T>G p.P2856= Synonymous 45/79 - 1
2-170055306-A-G c.8568T>C p.P2856= Synonymous 45/79 - 2
2-170055306-A-T c.8568T>A p.P2856= Synonymous 45/79 - 1
2-170055311-T-G c.8563A>C p.N2855H Missense 45/79 - 1
2-170055314-C-T c.8560G>A p.E2854K Missense 45/79 - 4
2-170055319-C-T c.8555G>A p.S2852N Missense 45/79 - 1
2-170055322-T-G c.8552A>C p.N2851T Missense 45/79 - 2
2-170055326-C-G c.8548G>C p.D2850H Missense 45/79 - 2
2-170055328-C-G c.8546G>C p.G2849A Missense 45/79 - 2
2-170055331-C-T c.8543G>A p.C2848Y Missense 45/79 - 4
2-170055341-C-A c.8533G>T p.D2845Y Missense 45/79 - 1
2-170055344-C-G c.8530G>C p.G2844R Missense 45/79 - 1
2-170055344-C-T c.8530G>A p.G2844R Missense 45/79 - 2
2-170055345-G-A c.8529C>T p.D2843= Synonymous 45/79 - 3
2-170055347-C-G c.8527G>C p.D2843H Missense 45/79 - 5
2-170055350-A-G c.8524T>C p.C2842R Missense 45/79 - 4
2-170055351-C-A c.8523G>T p.L2841F Missense 45/79 - 2
2-170055351-C-T c.8523G>A p.L2841= Synonymous 45/79 - 3
2-170055353-A-G c.8521T>C p.L2841= Synonymous 45/79 - 1
2-170055351-CAAAT-C c.8519_8522del p.Y2840Cfs*67 Frameshift 45/79 - 3
2-170055359-C-T c.8515G>A p.V2839I Missense 45/79 - 5
2-170055360-G-A c.8514C>T p.R2838= Synonymous 45/79 - 1
2-170055361-C-T c.8513G>A p.R2838H Missense 45/79 - 1
2-170055362-G-A c.8512C>T p.R2838C Missense 45/79 - 5
2-170055364-G-A c.8510C>T p.P2837L Missense 45/79 - 1
2-170055365-G-A c.8509C>T p.P2837S Missense 45/79 - 6
2-170055366-A-C c.8508T>G p.I2836M Missense 45/79 - 2
2-170055367-A-G c.8507T>C p.I2836T Missense 45/79 - 1
2-170055368-T-C c.8506A>G p.I2836V Missense 45/79 - 1
2-170055370-C-T c.8504G>A p.C2835Y Missense 45/79 - 1
2-170055373-A-C c.8501T>G p.I2834S Missense 45/79 - 3
2-170055374-T-C c.8500A>G p.I2834V Missense 45/79 - 6
2-170055375-AT-A c.8498del p.N2833Ifs*75 Frameshift 45/79 - 1
2-170055379-G-C c.8495C>G p.S2832* Nonsense 45/79 - 1
2-170055379-G-T c.8495C>A p.S2832* Nonsense 45/79 - 1
2-170055384-A-C c.8490T>G p.H2830Q Missense 45/79 - 1
2-170055385-T-C c.8489A>G p.H2830R Missense 45/79 - 1
2-170055392-T-C c.8482A>G p.K2828E Missense 45/79 - 1
2-170055393-T-G c.8481A>C p.T2827= Synonymous 45/79 - 1
2-170055397-T-A c.8477A>T p.Y2826F Missense 45/79 - 1
2-170055406-T-G c.8468A>C p.Q2823P Missense 45/79 - 1
2-170055409-C-G c.8465G>C p.C2822S Missense 45/79 - 1
2-170055413-T-C c.8461A>G p.T2821A Missense 45/79 - 1
2-170055415-C-A c.8459G>T p.R2820L Missense 45/79 - 1
2-170055415-C-T c.8459G>A p.R2820H Missense 45/79 - 2
2-170055416-G-A c.8458C>T p.R2820C Missense 45/79 - 3
2-170055416-G-T c.8458C>A p.R2820S Missense 45/79 - 3
2-170055419-C-T c.8455G>A p.D2819N Missense 45/79 - 2
2-170055421-G-A c.8453C>T p.P2818L Missense 45/79 - 2
2-170055432-A-G c.8453-11T>C - IntronicSNV - 44/78 2
2-170056775-A-T c.8453-1354T>A - IntronicSNV - 44/78 1
2-170058056-CT-C c.8452+81del - IntronicDeletion - 44/78 1
2-170058137-C-T c.8452+1G>A - IntronicSNV - 44/78 5
2-170058138-G-A c.8452C>T p.P2818S Missense 44/79 - 2
2-170058138-G-C c.8452C>G p.P2818A Missense 44/79 - 1
2-170058139-G-T c.8451C>A p.C2817* Nonsense 44/79 - 3
2-170058148-C-A c.8442G>T p.E2814D Missense 44/79 - 2
2-170058148-C-G c.8442G>C p.E2814D Missense 44/79 - 1
2-170058148-C-T c.8442G>A p.E2814= Synonymous 44/79 - 1
2-170058150-C-T c.8440G>A p.E2814K Missense 44/79 - 3
2-170058158-G-A c.8432C>T p.T2811I Missense 44/79 - 2
2-170058158-G-T c.8432C>A p.T2811N Missense 44/79 - 2
2-170058159-T-C c.8431A>G p.T2811A Missense 44/79 - 1
2-170058164-T-C c.8426A>G p.N2809S Missense 44/79 - 1
2-170058165-T-G c.8425A>C p.N2809H Missense 44/79 - 2
2-170058168-C-T c.8422G>A p.D2808N Missense 44/79 - 1
2-170058170-T-C c.8420A>G p.H2807R Missense 44/79 - 1
2-170058171-G-A c.8419C>T p.H2807Y Missense 44/79 - 2
2-170058174-A-G c.8416T>C p.C2806R Missense 44/79 - 1
2-170058183-C-T c.8407G>A p.V2803I Missense 44/79 - 2
2-170058185-C-G c.8405G>C p.G2802A Missense 44/79 - 1
2-170058194-A-T c.8396T>A p.I2799N Missense 44/79 - 2
2-170058201-C-A c.8389G>T p.E2797* Nonsense 44/79 - 2
2-170058201-C-T c.8389G>A p.E2797K Missense 44/79 - 1
2-170058203-C-T c.8387G>A p.R2796H Missense 44/79 - 3
2-170058204-G-A c.8386C>T p.R2796C Missense 44/79 - 2
2-170058204-G-C c.8386C>G p.R2796G Missense 44/79 - 1
2-170058207-G-A c.8383C>T p.P2795S Missense 44/79 - 1
2-170058218-C-T c.8372G>A p.R2791K Missense 44/79 - 1
2-170058225-T-C c.8365A>G p.N2789D Missense 44/79 - 1
2-170058226-G-C c.8364C>G p.C2788W Missense 44/79 - 3
2-170058229-C-T c.8361G>A p.M2787I Missense 44/79 - 1
2-170058231-T-G c.8359A>C p.M2787L Missense 44/79 - 1
2-170058233-A-T c.8357T>A p.F2786Y Missense 44/79 - 2
2-170058231-T-TA c.8358dup p.M2787Yfs*4 Frameshift 44/79 - 1
2-170058234-A-G c.8356T>C p.F2786L Missense 44/79 - 3
2-170058234-A-T c.8356T>A p.F2786I Missense 44/79 - 1
2-170058237-C-T c.8353G>A p.E2785K Missense 44/79 - 7
2-170058239-G-A c.8351C>T p.T2784M Missense 44/79 - 1
2-170058244-G-A c.8346C>T p.A2782= Synonymous 44/79 - 1
2-170058249-T-G c.8341A>C p.N2781H Missense 44/79 - 2
2-170058256-C-A c.8334G>T p.R2778S Missense 44/79 - 1
2-170058256-C-T c.8334G>A p.R2778= Synonymous 44/79 - 1
2-170058257-C-A c.8333G>T p.R2778M Missense 44/79 - 1
2-170058258-T-C c.8332A>G p.R2778G Missense 44/79 - 1
2-170058265-G-A c.8325C>T p.C2775= Synonymous 44/79 - 1
2-170058269-C-A c.8321G>T p.G2774V Missense 44/79 - 2
2-170058272-G-A c.8318C>T p.A2773V Missense 44/79 - 3
2-170058276-C-T c.8314G>A p.E2772K Missense 44/79 - 1
2-170058277-A-T c.8313T>A p.D2771E Missense 44/79 - 3
2-170058279-C-T c.8311G>A p.D2771N Missense 44/79 - 1
2-170058281-C-G c.8309G>C p.S2770T Missense 44/79 - 1
2-170058281-C-T c.8309G>A p.S2770N Missense 44/79 - 1
2-170058282-T-C c.8308A>G p.S2770G Missense 44/79 - 1
2-170058284-C-G c.8306G>C p.G2769A Missense 44/79 - 1
2-170058285-C-A c.8305G>T p.G2769C Missense 44/79 - 1
2-170058290-C-T c.8300G>A p.G2767D Missense 44/79 - 1
2-170058296-T-C c.8294A>G p.D2765G Missense 44/79 - 1
2-170058299-T-C c.8291A>G p.N2764S Missense 44/79 - 2
2-170058300-T-A c.8290A>T p.N2764Y Missense 44/79 - 1
2-170058302-T-C c.8288A>G p.Y2763C Missense 44/79 - 1
2-170058305-T-C c.8285A>G p.Y2762C Missense 44/79 - 2
2-170058313-G-A c.8277C>T p.R2759= Synonymous 44/79 - 2
2-170058313-G-C c.8277C>G p.R2759= Synonymous 44/79 - 2
2-170058313-G-T c.8277C>A p.R2759= Synonymous 44/79 - 3
2-170058314-C-A c.8276G>T p.R2759L Missense 44/79 - 2
2-170058314-C-T c.8276G>A p.R2759H Missense 44/79 - 1
2-170058317-T-C c.8273A>G p.Y2758C Missense 44/79 - 1
2-170058322-G-T c.8268C>A p.Y2756* Nonsense 44/79 - 2
2-170058330-C-G c.8260G>C p.V2754L Missense 44/79 - 2
2-170058332-C-T c.8258G>A p.C2753Y Missense 44/79 - 1
2-170058335-C-A c.8255G>T p.R2752L Missense 44/79 - 2
2-170058335-C-T c.8255G>A p.R2752Q Missense 44/79 - 7
2-170058336-G-A c.8254C>T p.R2752* Nonsense 44/79 - 6
2-170058336-GC-G c.8253del p.R2752Dfs*52 Frameshift 44/79 - 2
2-170058339-C-T c.8251G>A p.G2751R Missense 44/79 - 1
2-170058341-T-C c.8249A>G p.N2750S Missense 44/79 - 1
2-170058344-G-A c.8246C>T p.A2749V Missense 44/79 - 1
2-170058345-C-A c.8245G>T p.A2749S Missense 44/79 - 2
2-170058349-G-A c.8241C>T p.T2747= Synonymous 44/79 - 4
2-170058349-G-T c.8241C>A p.T2747= Synonymous 44/79 - 4
2-170058351-T-C c.8239A>G p.T2747A Missense 44/79 - 1
2-170058359-G-T c.8231C>A p.T2744K Missense 44/79 - 1
2-170058360-T-A c.8230A>T p.T2744S Missense 44/79 - 1
2-170058361-C-A c.8229G>T p.P2743= Synonymous 44/79 - 1
2-170058361-C-G c.8229G>C p.P2743= Synonymous 44/79 - 1
2-170058361-C-T c.8229G>A p.P2743= Synonymous 44/79 - 6
2-170058362-G-A c.8228C>T p.P2743L Missense 44/79 - 3
2-170058365-G-A c.8225C>T p.S2742L Missense 44/79 - 1
2-170058365-G-C c.8225C>G p.S2742* Nonsense 44/79 - 1
2-170058365-G-T c.8225C>A p.S2742* Nonsense 44/79 - 3
2-170058370-G-A c.8220C>T p.T2740= Synonymous 44/79 - 4
2-170058370-G-C c.8220C>G p.T2740= Synonymous 44/79 - 1
2-170058372-T-C c.8218A>G p.T2740A Missense 44/79 - 1
2-170058378-G-A c.8212C>T p.L2738F Missense 44/79 - 1
2-170058378-G-C c.8212C>G p.L2738V Missense 44/79 - 1
2-170058489-C-CA c.8210-110dup - IntronicInsertion - 43/78 1
2-170058497-G-A c.8210-117C>T - IntronicSNV - 43/78 3
2-170059190-T-C c.8209+76A>G - IntronicSNV - 43/78 7
2-170059206-C-T c.8209+60G>A - IntronicSNV - 43/78 1
2-170059272-C-G c.8203G>C p.V2735L Missense 43/79 - 1
2-170059272-C-T c.8203G>A p.V2735I Missense 43/79 - 1
2-170059273-A-T c.8202T>A p.S2734R Missense 43/79 - 1
2-170059278-C-T c.8197G>A p.E2733K Missense 43/79 - 3
2-170059279-C-G c.8196G>C p.M2732I Missense 43/79 - 1
2-170059280-A-G c.8195T>C p.M2732T Missense 43/79 - 2
2-170059281-T-C c.8194A>G p.M2732V Missense 43/79 - 1
2-170059284-C-G c.8191G>C p.E2731Q Missense 43/79 - 2
2-170059287-C-A c.8188G>T p.D2730Y Missense 43/79 - 1
2-170059287-C-T c.8188G>A p.D2730N Missense 43/79 - 2
2-170059292-C-A c.8183G>T p.G2728V Missense 43/79 - 2
2-170059292-C-T c.8183G>A p.G2728D Missense 43/79 - 1
2-170059294-A-G c.8181T>C p.D2727= Synonymous 43/79 - 1
2-170059298-C-G c.8177G>C p.G2726A Missense 43/79 - 1
2-170059306-G-A c.8169C>T p.N2723= Synonymous 43/79 - 2
2-170059312-A-T c.8163T>A p.N2721K Missense 43/79 - 1
2-170059313-T-C c.8162A>G p.N2721S Missense 43/79 - 1
2-170059322-T-C c.8153A>G p.K2718R Missense 43/79 - 2
2-170059324-C-T c.8151G>A p.W2717* Nonsense 43/79 - 1
2-170059325-C-T c.8150G>A p.W2717* Nonsense 43/79 - 1
2-170059326-A-C c.8149T>G p.W2717G Missense 43/79 - 1
2-170059326-A-G c.8149T>C p.W2717R Missense 43/79 - 2
2-170059333-C-A c.8142G>T p.S2714= Synonymous 43/79 - 1
2-170059333-C-G c.8142G>C p.S2714= Synonymous 43/79 - 1
2-170059333-C-T c.8142G>A p.S2714= Synonymous 43/79 - 1
2-170059334-G-A c.8141C>T p.S2714L Missense 43/79 - 3
2-170059335-A-T c.8140T>A p.S2714T Missense 43/79 - 1
2-170059343-C-T c.8132G>A p.R2711H Missense 43/79 - 3
2-170059344-G-A c.8131C>T p.R2711C Missense 43/79 - 3
2-170059344-G-T c.8131C>A p.R2711S Missense 43/79 - 1
2-170059352-G-A c.8123C>T p.S2708F Missense 43/79 - 2
2-170059352-G-C c.8123C>G p.S2708C Missense 43/79 - 1
2-170059360-G-C c.8115C>G p.F2705L Missense 43/79 - 1
2-170059363-G-T c.8112C>A p.S2704= Synonymous 43/79 - 1
2-170059364-G-A c.8111C>T p.S2704F Missense 43/79 - 1
2-170059371-C-A c.8104G>T p.A2702S Missense 43/79 - 1
2-170059371-C-T c.8104G>A p.A2702T Missense 43/79 - 2
2-170059373-C-A c.8102G>T p.G2701V Missense 43/79 - 1
2-170059373-C-G c.8102G>C p.G2701A Missense 43/79 - 1
2-170059373-C-T c.8102G>A p.G2701D Missense 43/79 - 1
2-170059374-C-A c.8101G>T p.G2701C Missense 43/79 - 1
2-170059375-A-C c.8100T>G p.C2700W Missense 43/79 - 1
2-170059379-C-G c.8096G>C p.R2699P Missense 43/79 - 1
2-170059379-C-T c.8096G>A p.R2699Q Missense 43/79 - 8
2-170059382-T-A c.8093A>T p.E2698V Missense 43/79 - 1
2-170059382-T-G c.8093A>C p.E2698A Missense 43/79 - 1
2-170059383-C-A c.8092G>T p.E2698* Nonsense 43/79 - 1
2-170059386-C-A c.8089G>T p.G2697C Missense 43/79 - 2
2-170059387-A-T c.8088T>A p.N2696K Missense 43/79 - 1
2-170059389-T-G c.8086A>C p.N2696H Missense 43/79 - 2
2-170059396-A-C c.8079T>G p.I2693M Missense 43/79 - 1
2-170059398-T-A c.8077A>T p.I2693F Missense 43/79 - 4
2-170059398-T-G c.8077A>C p.I2693L Missense 43/79 - 1
2-170059403-T-C c.8072A>G p.H2691R Missense 43/79 - 2
2-170059405-C-G c.8070G>C p.K2690N Missense 43/79 - 1
2-170059405-C-T c.8070G>A p.K2690= Synonymous 43/79 - 3
2-170059408-C-T c.8067G>A p.R2689= Synonymous 43/79 - 1
2-170059413-T-C c.8062A>G p.N2688D Missense 43/79 - 1
2-170059414-G-A c.8061C>T p.N2687= Synonymous 43/79 - 1
2-170059409-CTGT-C c.8063_8065del p.N2688del InFrameDeletion 43/79 - 1
2-170059433-C-T c.8042G>A p.G2681D Missense 43/79 - 1
2-170059435-C-G c.8040G>C p.E2680D Missense 43/79 - 1
2-170059437-C-T c.8038G>A p.E2680K Missense 43/79 - 1
2-170059439-T-C c.8036A>G p.H2679R Missense 43/79 - 2
2-170059442-G-A c.8033C>T p.P2678L Missense 43/79 - 1
2-170059445-C-T c.8030G>A p.C2677Y Missense 43/79 - 1
2-170059445-C-G c.8030G>C p.C2677S Missense 43/79 - 1
2-170059446-A-T c.8029T>A p.C2677S Missense 43/79 - 1
2-170059454-T-G c.8021A>C p.E2674A Missense 43/79 - 1
2-170059455-C-T c.8020G>A p.E2674K Missense 43/79 - 3
2-170059456-G-A c.8019C>T p.A2673= Synonymous 43/79 - 1
2-170059458-C-T c.8017G>A p.A2673T Missense 43/79 - 1
2-170059460-C-G c.8015G>C p.G2672A Missense 43/79 - 1
2-170059460-C-T c.8015G>A p.G2672D Missense 43/79 - 2
2-170059461-C-G c.8014G>C p.G2672R Missense 43/79 - 2
2-170059461-C-T c.8014G>A p.G2672S Missense 43/79 - 2
2-170060492-C-T c.8005G>A p.G2669S Missense 42/79 - 3
2-170060494-G-A c.8003C>T p.P2668L Missense 42/79 - 1
2-170060495-G-C c.8002C>G p.P2668A Missense 42/79 - 1
2-170060497-G-A c.8000C>T p.A2667V Missense 42/79 - 2
2-170060506-T-C c.7991A>G p.H2664R Missense 42/79 - 2
2-170060512-C-G c.7985G>C p.C2662S Missense 42/79 - 2
2-170060513-A-T c.7984T>A p.C2662S Missense 42/79 - 1
2-170060515-C-G c.7982G>C p.G2661A Missense 42/79 - 1
2-170060515-C-T c.7982G>A p.G2661D Missense 42/79 - 1
2-170060518-C-A c.7979G>T p.G2660V Missense 42/79 - 1
2-170060520-A-C c.7977T>G p.N2659K Missense 42/79 - 4
2-170060521-T-C c.7976A>G p.N2659S Missense 42/79 - 1
2-170060522-T-G c.7975A>C p.N2659H Missense 42/79 - 1
2-170060526-C-A c.7971G>T p.Q2657H Missense 42/79 - 1
2-170060526-C-G c.7971G>C p.Q2657H Missense 42/79 - 1
2-170060530-T-C c.7967A>G p.E2656G Missense 42/79 - 2
2-170060531-C-A c.7966G>T p.E2656* Nonsense 42/79 - 3
2-170060531-C-T c.7966G>A p.E2656K Missense 42/79 - 1
2-170060536-G-A c.7961C>T p.P2654L Missense 42/79 - 4
2-170060536-G-T c.7961C>A p.P2654H Missense 42/79 - 1
2-170060540-T-A c.7957A>T p.N2653Y Missense 42/79 - 1
2-170060543-T-A c.7954A>T p.N2652Y Missense 42/79 - 1
2-170060544-A-C c.7953T>G p.C2651W Missense 42/79 - 1
2-170060547-C-T c.7950G>A p.Q2650= Synonymous 42/79 - 1
2-170060550-T-A c.7947A>T p.Q2649H Missense 42/79 - 1
2-170060550-T-G c.7947A>C p.Q2649H Missense 42/79 - 1
2-170060552-G-T c.7945C>A p.Q2649K Missense 42/79 - 2
2-170060559-G-C c.7938C>G p.N2646K Missense 42/79 - 1
2-170060561-T-A c.7936A>T p.N2646Y Missense 42/79 - 1
2-170060562-C-A c.7935G>T p.K2645N Missense 42/79 - 1
2-170060572-G-C c.7925C>G p.T2642S Missense 42/79 - 1
2-170060572-G-T c.7925C>A p.T2642N Missense 42/79 - 1
2-170060576-T-C c.7921A>G p.N2641D Missense 42/79 - 9
2-170060578-A-G c.7919T>C p.I2640T Missense 42/79 - 1
2-170060579-T-C c.7918A>G p.I2640V Missense 42/79 - 3
2-170060580-T-A c.7917A>T p.G2639= Synonymous 42/79 - 1
2-170060580-T-C c.7917A>G p.G2639= Synonymous 42/79 - 1
2-170060580-T-G c.7917A>C p.G2639= Synonymous 42/79 - 1
2-170060581-C-A c.7916G>T p.G2639V Missense 42/79 - 1
2-170060581-C-T c.7916G>A p.G2639E Missense 42/79 - 10
2-170060583-C-A c.7914G>T p.R2638S Missense 42/79 - 1
2-170060583-C-G c.7914G>C p.R2638S Missense 42/79 - 1
2-170060583-C-T c.7914G>A p.R2638= Synonymous 42/79 - 1
2-170060585-T-G c.7912A>C p.R2638= Synonymous 42/79 - 1
2-170060584-C-T c.7913G>A p.R2638K Missense 42/79 - 2
2-170060588-G-A c.7909C>T p.P2637S Missense 42/79 - 1
2-170060590-T-C c.7907A>G p.Q2636R Missense 42/79 - 1
2-170060595-G-A c.7902C>T p.L2634= Synonymous 42/79 - 3
2-170060595-G-C c.7902C>G p.L2634= Synonymous 42/79 - 2
2-170060595-G-T c.7902C>A p.L2634= Synonymous 42/79 - 2
2-170060602-T-C c.7895A>G p.N2632S Missense 42/79 - 2
2-170060603-T-A c.7894A>T p.N2632Y Missense 42/79 - 5
2-170060603-T-C c.7894A>G p.N2632D Missense 42/79 - 22
2-170060603-T-G c.7894A>C p.N2632H Missense 42/79 - 5
2-170060606-T-C c.7891A>G p.T2631A Missense 42/79 - 2
2-170060607-G-A c.7890C>T p.T2630= Synonymous 42/79 - 2
2-170060607-G-C c.7890C>G p.T2630= Synonymous 42/79 - 1
2-170060607-G-T c.7890C>A p.T2630= Synonymous 42/79 - 1
2-170060608-G-A c.7889C>T p.T2630I Missense 42/79 - 1
2-170060612-T-C c.7885A>G p.M2629V Missense 42/79 - 1
2-170060614-G-T c.7883C>A p.A2628E Missense 42/79 - 1
2-170060619-C-G c.7878G>C p.Q2626H Missense 42/79 - 1
2-170060621-G-T c.7876C>A p.Q2626K Missense 42/79 - 1
2-170060623-C-G c.7874G>C p.G2625A Missense 42/79 - 1
2-170060623-C-T c.7874G>A p.G2625D Missense 42/79 - 2
2-170060624-C-G c.7873G>C p.G2625R Missense 42/79 - 1
2-170060626-G-A c.7871C>T p.S2624L Missense 42/79 - 2
2-170060630-C-A c.7867G>T p.G2623W Missense 42/79 - 2
2-170060630-C-G c.7867G>C p.G2623R Missense 42/79 - 6
2-170060630-C-T c.7867G>A p.G2623R Missense 42/79 - 6
2-170060631-G-A c.7866C>T p.D2622= Synonymous 42/79 - 3
2-170060631-G-C c.7866C>G p.D2622E Missense 42/79 - 1
2-170060631-G-T c.7866C>A p.D2622E Missense 42/79 - 1
2-170060632-T-C c.7865A>G p.D2622G Missense 42/79 - 2
2-170060642-T-C c.7855A>G p.N2619D Missense 42/79 - 1
2-170060644-G-C c.7853C>G p.A2618G Missense 42/79 - 1
2-170060647-C-A c.7850G>T p.R2617L Missense 42/79 - 9
2-170060647-C-G c.7850G>C p.R2617P Missense 42/79 - 1
2-170060647-C-T c.7850G>A p.R2617Q Missense 42/79 - 5
2-170060654-T-C c.7843A>G p.I2615V Missense 42/79 - 1
2-170060655-T-C c.7842A>G p.R2614= Synonymous 42/79 - 1
2-170060657-T-G c.7840A>C p.R2614= Synonymous 42/79 - 1
2-170060656-C-A c.7841G>T p.R2614I Missense 42/79 - 3
2-170060656-C-T c.7841G>A p.R2614K Missense 42/79 - 4
2-170060666-A-G c.7831T>C p.Y2611H Missense 42/79 - 1
2-170060668-A-G c.7829T>C p.L2610S Missense 42/79 - 2
2-170060675-T-C c.7822A>G p.T2608A Missense 42/79 - 3
2-170060678-A-G c.7819T>C p.W2607R Missense 42/79 - 1
2-170060679-G-A c.7818C>T p.Y2606= Synonymous 42/79 - 1
2-170060679-G-C c.7818C>G p.Y2606* Nonsense 42/79 - 1
2-170060679-G-T c.7818C>A p.Y2606* Nonsense 42/79 - 1
2-170060681-A-G c.7816T>C p.Y2606H Missense 42/79 - 1
2-170060686-T-C c.7811A>G p.Y2604C Missense 42/79 - 2
2-170060689-T-C c.7808A>G p.Q2603R Missense 42/79 - 1
2-170060692-C-T c.7805G>A p.G2602D Missense 42/79 - 2
2-170060695-T-C c.7802A>G p.Y2601C Missense 42/79 - 2
2-170060696-A-G c.7801T>C p.Y2601H Missense 42/79 - 3
2-170060699-G-A c.7798C>T p.L2600F Missense 42/79 - 3
2-170060710-A-G c.7787T>C p.F2596S Missense 42/79 - 1
2-170060711-A-G c.7786T>C p.F2596L Missense 42/79 - 2
2-170060713-G-T c.7784C>A p.A2595D Missense 42/79 - 4
2-170060714-C-A c.7783G>T p.A2595S Missense 42/79 - 3
2-170060716-T-G c.7781A>C p.H2594P Missense 42/79 - 1
2-170060720-C-T c.7777G>A p.V2593I Missense 42/79 - 2
2-170060721-G-A c.7776C>T p.A2592= Synonymous 42/79 - 1
2-170060721-G-C c.7776C>G p.A2592= Synonymous 42/79 - 1
2-170060721-G-T c.7776C>A p.A2592= Synonymous 42/79 - 1
2-170060726-C-A c.7771G>T p.A2591S Missense 42/79 - 1
2-170060727-A-C c.7770T>G p.N2590K Missense 42/79 - 1
2-170060727-A-T c.7770T>A p.N2590K Missense 42/79 - 1
2-170060728-T-A c.7769A>T p.N2590I Missense 42/79 - 2
2-170060728-T-C c.7769A>G p.N2590S Missense 42/79 - 1
2-170060731-A-G c.7766T>C p.V2589A Missense 42/79 - 1
2-170060735-T-C c.7762A>G p.I2588V Missense 42/79 - 1
2-170060743-C-T c.7754G>A p.R2585H Missense 42/79 - 5
2-170060748-C-A c.7749G>T p.V2583= Synonymous 42/79 - 1
2-170060748-C-G c.7749G>C p.V2583= Synonymous 42/79 - 1
2-170060748-C-T c.7749G>A p.V2583= Synonymous 42/79 - 1
2-170060750-C-T c.7747G>A p.V2583M Missense 42/79 - 4
2-170060751-G-A c.7746C>T p.G2582= Synonymous 42/79 - 1
2-170060751-G-C c.7746C>G p.G2582= Synonymous 42/79 - 1
2-170060751-G-T c.7746C>A p.G2582= Synonymous 42/79 - 1
2-170060754-C-T c.7743G>A p.T2581= Synonymous 42/79 - 1
2-170060755-G-A c.7742C>T p.T2581M Missense 42/79 - 1
2-170060758-A-G c.7739T>C p.L2580P Missense 42/79 - 1
2-170060760-A-C c.7737T>G p.T2579= Synonymous 42/79 - 1
2-170060762-T-G c.7735A>C p.T2579P Missense 42/79 - 3
2-170060763-G-A c.7734C>T p.S2578= Synonymous 42/79 - 1
2-170060765-T-C c.7732A>G p.S2578G Missense 42/79 - 2
2-170060767-C-T c.7730G>A p.R2577H Missense 42/79 - 2
2-170060768-G-A c.7729C>T p.R2577C Missense 42/79 - 8
2-170060771-C-G c.7726G>C p.E2576Q Missense 42/79 - 1
2-170060771-C-T c.7726G>A p.E2576K Missense 42/79 - 1
2-170060774-T-TA c.7722_7723insT p.I2575Yfs*2 Frameshift 42/79 - 1
2-170060775-C-G c.7722G>C p.R2574S Missense 42/79 - 1
2-170060776-C-G c.7721G>C p.R2574T Missense 42/79 - 1
2-170060776-C-T c.7721G>A p.R2574K Missense 42/79 - 4
2-170060781-C-A c.7716G>T p.L2572= Synonymous 42/79 - 2
2-170060781-C-G c.7716G>C p.L2572= Synonymous 42/79 - 3
2-170060781-C-T c.7716G>A p.L2572= Synonymous 42/79 - 2
2-170061990-G-A c.7714C>T p.L2572= Synonymous 41/79 - 2
2-170061860-T-A c.7715+129A>T - IntronicSNV - 41/78 1
2-170061860-T-G c.7715+129A>C - IntronicSNV - 41/78 1
2-170061990-G-C c.7714C>G p.L2572V Missense 41/79 - 4
2-170061996-C-T c.7708G>A p.A2570T Missense 41/79 - 1
2-170062003-C-G c.7701G>C p.W2567C Missense 41/79 - 1
2-170062004-C-A c.7700G>T p.W2567L Missense 41/79 - 1
2-170062006-G-A c.7698C>