NOS1AP nitric oxide synthase 1 adaptor protein

Canonical transcript: NM_014697

407 unique variant annotations were identified in 284 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-162040034-G-A c.67G>A p.Glu23Lys Missense 1/10 - 4
1-162040046-CA-GG c.79_80delinsGG p.Gln27Gly Missense 1/10 - 1
1-162040046-C-G c.79C>G p.Gln27Glu Missense 1/10 - 1
1-162040305-C-A c.105+233C>A - IntronicSNV - 1/9 1
1-162040595-G-C c.105+523G>C - IntronicSNV - 1/9 1
1-162040878-C-T c.105+806C>T - IntronicSNV - 1/9 3
1-162040906-G-C c.105+834G>C - IntronicSNV - 1/9 1
1-162042313-A-C c.105+2241A>C - IntronicSNV - 1/9 1
1-162042313-A-G c.105+2241A>G - IntronicSNV - 1/9 1
1-162043629-C-T c.105+3557C>T - IntronicSNV - 1/9 1
1-162046135-C-A c.105+6063C>A - IntronicSNV - 1/9 5
1-162046135-C-G c.105+6063C>G - IntronicSNV - 1/9 5
1-162048813-C-G c.105+8741C>G - IntronicSNV - 1/9 1
1-162049824-G-A c.105+9752G>A - IntronicSNV - 1/9 3
1-162049877-T-G c.105+9805T>G - IntronicSNV - 1/9 1
1-162050670-C-A c.105+10598C>A - IntronicSNV - 1/9 1
1-162050670-C-T c.105+10598C>T - IntronicSNV - 1/9 1
1-162055806-C-G c.105+15734C>G - IntronicSNV - 1/9 2
1-162055806-C-T c.105+15734C>T - IntronicSNV - 1/9 2
1-162061265-T-C c.105+21193T>C - IntronicSNV - 1/9 2
1-162061647-C-G c.105+21575C>G - IntronicSNV - 1/9 1
1-162062044-C-T c.105+21972C>T - IntronicSNV - 1/9 3
1-162062568-G-A c.105+22496G>A - IntronicSNV - 1/9 1
1-162063252-T-C c.105+23180T>C - IntronicSNV - 1/9 1
1-162070706-A-G c.105+30634A>G - IntronicSNV - 1/9 1
1-162070706-A-T c.105+30634A>T - IntronicSNV - 1/9 1
1-162076521-C-T c.105+36449C>T - IntronicSNV - 1/9 1
1-162076553-C-A c.105+36481C>A - IntronicSNV - 1/9 1
1-162076553-C-T c.105+36481C>T - IntronicSNV - 1/9 1
1-162077060-T-C c.105+36988T>C - IntronicSNV - 1/9 1
1-162077860-G-A c.105+37788G>A - IntronicSNV - 1/9 1
1-162079688-G-A c.105+39616G>A - IntronicSNV - 1/9 1
1-162081173-C-T c.105+41101C>T - IntronicSNV - 1/9 1
1-162083341-G-A c.106-40854G>A - IntronicSNV - 1/9 1
1-162083768-A-G c.106-40427A>G - IntronicSNV - 1/9 1
1-162083768-A-T c.106-40427A>T - IntronicSNV - 1/9 1
1-162083989-C-A c.106-40206C>A - IntronicSNV - 1/9 3
1-162083989-C-G c.106-40206C>G - IntronicSNV - 1/9 3
1-162084658-T-C c.106-39537T>C - IntronicSNV - 1/9 1
1-162084886-A-G c.106-39309A>G - IntronicSNV - 1/9 1
1-162085309-C-T c.106-38886C>T - IntronicSNV - 1/9 9
1-162085685-G-T c.106-38510G>T - IntronicSNV - 1/9 71
1-162087541-C-A c.106-36654C>A - IntronicSNV - 1/9 1
1-162087541-C-T c.106-36654C>T - IntronicSNV - 1/9 1
1-162089331-A-G c.106-34864A>G - IntronicSNV - 1/9 1
1-162090536-G-A c.106-33659G>A - IntronicSNV - 1/9 1
1-162091284-C-T c.106-32911C>T - IntronicSNV - 1/9 2
1-162091330-T-C c.106-32865T>C - IntronicSNV - 1/9 5
1-162091836-C-G c.106-32359C>G - IntronicSNV - 1/9 1
1-162098329-A-C c.106-25866A>C - IntronicSNV - 1/9 1
1-162098329-A-G c.106-25866A>G - IntronicSNV - 1/9 1
1-162099301-G-A c.106-24894G>A - IntronicSNV - 1/9 10
1-162099951-G-A c.106-24244G>A - IntronicSNV - 1/9 1
1-162099951-G-C c.106-24244G>C - IntronicSNV - 1/9 1
1-162100112-C-T c.106-24083C>T - IntronicSNV - 1/9 2
1-162100287-G-A c.106-23908G>A - IntronicSNV - 1/9 5
1-162100287-G-C c.106-23908G>C - IntronicSNV - 1/9 5
1-162101098-T-C c.106-23097T>C - IntronicSNV - 1/9 1
1-162101829-A-G c.106-22366A>G - IntronicSNV - 1/9 2
1-162102064-C-G c.106-22131C>G - IntronicSNV - 1/9 2
1-162102064-C-T c.106-22131C>T - IntronicSNV - 1/9 2
1-162103110-T-C c.106-21085T>C - IntronicSNV - 1/9 2
1-162103178-G-A c.106-21017G>A - IntronicSNV - 1/9 1
1-162103270-T-C c.106-20925T>C - IntronicSNV - 1/9 2
1-162103510-T-G c.106-20685T>G - IntronicSNV - 1/9 1
1-162103672-C-T c.106-20523C>T - IntronicSNV - 1/9 1
1-162103772-G-A c.106-20423G>A - IntronicSNV - 1/9 1
1-162103916-C-G c.106-20279C>G - IntronicSNV - 1/9 1
1-162103951-C-T c.106-20244C>T - IntronicSNV - 1/9 1
1-162104081-G-C c.106-20114G>C - IntronicSNV - 1/9 2
1-162104658-T-C c.106-19537T>C - IntronicSNV - 1/9 3
1-162104763-A-G c.106-19432A>G - IntronicSNV - 1/9 2
1-162105052-T-A c.106-19143T>A - IntronicSNV - 1/9 1
1-162105094-A-C c.106-19101A>C - IntronicSNV - 1/9 1
1-162106150-T-G c.106-18045T>G - IntronicSNV - 1/9 2
1-162106525-C-T c.106-17670C>T - IntronicSNV - 1/9 3
1-162106636-G-A c.106-17559G>A - IntronicSNV - 1/9 2
1-162106962-C-T c.106-17233C>T - IntronicSNV - 1/9 1
1-162106967-T-A c.106-17228T>A - IntronicSNV - 1/9 1
1-162106967-T-G c.106-17228T>G - IntronicSNV - 1/9 1
1-162108119-A-G c.106-16076A>G - IntronicSNV - 1/9 4
1-162108119-A-T c.106-16076A>T - IntronicSNV - 1/9 4
1-162108321-A-G c.106-15874A>G - IntronicSNV - 1/9 1
1-162108321-A-T c.106-15874A>T - IntronicSNV - 1/9 1
1-162109096-A-G c.106-15099A>G - IntronicSNV - 1/9 1
1-162112082-T-C c.106-12113T>C - IntronicSNV - 1/9 1
1-162112650-G-T c.106-11545G>T - IntronicSNV - 1/9 1
1-162112910-C-G c.106-11285C>G - IntronicSNV - 1/9 24
1-162112966-T-C c.106-11229T>C - IntronicSNV - 1/9 1
1-162112966-T-G c.106-11229T>G - IntronicSNV - 1/9 1
1-162114217-G-A c.106-9978G>A - IntronicSNV - 1/9 2
1-162118046-T-C c.106-6149T>C - IntronicSNV - 1/9 8
1-162118902-C-T c.106-5293C>T - IntronicSNV - 1/9 1
1-162118984-A-G c.106-5211A>G - IntronicSNV - 1/9 4
1-162120579-C-G c.106-3616C>G - IntronicSNV - 1/9 1
1-162122448-C-T c.106-1747C>T - IntronicSNV - 1/9 1
1-162122627-A-G c.106-1568A>G - IntronicSNV - 1/9 3
1-162122627-A-T c.106-1568A>T - IntronicSNV - 1/9 3
1-162123797-A-C c.106-398A>C - IntronicSNV - 1/9 6
1-162123797-A-G c.106-398A>G - IntronicSNV - 1/9 6
1-162123797-A-T c.106-398A>T - IntronicSNV - 1/9 6
1-162123945-G-C c.106-250G>C - IntronicSNV - 1/9 1
1-162123945-G-T c.106-250G>T - IntronicSNV - 1/9 1
1-162124198-G-A c.109G>A p.Val37Ile Missense 2/10 - 2
1-162124201-GGA-AGC c.112_114delinsAGC p.Gly38Ser Missense 2/10 - 7
1-162124228-AG-GC c.139_140delinsGC p.Ser47Ala Missense 2/10 - 1
1-162126444-A-G c.177+2178A>G - IntronicSNV - 2/9 3
1-162126956-C-T c.177+2690C>T - IntronicSNV - 2/9 1
1-162128446-G-C c.177+4180G>C - IntronicSNV - 2/9 1
1-162128822-G-A c.177+4556G>A - IntronicSNV - 2/9 1
1-162129334-A-G c.177+5068A>G - IntronicSNV - 2/9 2
1-162129466-C-T c.177+5200C>T - IntronicSNV - 2/9 1
1-162129546-C-T c.177+5280C>T - IntronicSNV - 2/9 5
1-162130286-G-A c.177+6020G>A - IntronicSNV - 2/9 3
1-162130481-G-C c.177+6215G>C - IntronicSNV - 2/9 9
1-162133117-G-A c.177+8851G>A - IntronicSNV - 2/9 26
1-162133343-C-A c.177+9077C>A - IntronicSNV - 2/9 1
1-162133343-C-T c.177+9077C>T - IntronicSNV - 2/9 1
1-162134638-G-A c.177+10372G>A - IntronicSNV - 2/9 1
1-162135670-G-A c.177+11404G>A - IntronicSNV - 2/9 8
1-162140336-A-G c.177+16070A>G - IntronicSNV - 2/9 1
1-162146709-G-A c.177+22443G>A - IntronicSNV - 2/9 1
1-162146831-A-G c.177+22565A>G - IntronicSNV - 2/9 2
1-162147806-T-C c.177+23540T>C - IntronicSNV - 2/9 1
1-162148487-A-G c.177+24221A>G - IntronicSNV - 2/9 1
1-162148796-G-A c.177+24530G>A - IntronicSNV - 2/9 1
1-162150540-A-G c.177+26274A>G - IntronicSNV - 2/9 3
1-162150771-A-G c.177+26505A>G - IntronicSNV - 2/9 2
1-162152056-C-A c.177+27790C>A - IntronicSNV - 2/9 1
1-162152056-C-T c.177+27790C>T - IntronicSNV - 2/9 1
1-162152149-G-C c.177+27883G>C - IntronicSNV - 2/9 1
1-162152998-A-G c.177+28732A>G - IntronicSNV - 2/9 1
1-162155219-C-T c.177+30953C>T - IntronicSNV - 2/9 2
1-162155392-A-G c.177+31126A>G - IntronicSNV - 2/9 1
1-162155572-G-A c.177+31306G>A - IntronicSNV - 2/9 1
1-162155986-G-A c.177+31720G>A - IntronicSNV - 2/9 1
1-162155986-G-C c.177+31720G>C - IntronicSNV - 2/9 1
1-162155994-G-A c.177+31728G>A - IntronicSNV - 2/9 1
1-162156170-T-A c.177+31904T>A - IntronicSNV - 2/9 1
1-162156170-T-C c.177+31904T>C - IntronicSNV - 2/9 1
1-162156685-A-G c.177+32419A>G - IntronicSNV - 2/9 1
1-162156685-A-T c.177+32419A>T - IntronicSNV - 2/9 1
1-162158007-G-A c.177+33741G>A - IntronicSNV - 2/9 1
1-162159482-G-A c.177+35216G>A - IntronicSNV - 2/9 2
1-162160920-T-C c.177+36654T>C - IntronicSNV - 2/9 3
1-162161002-G-A c.177+36736G>A - IntronicSNV - 2/9 2
1-162161339-C-G c.177+37073C>G - IntronicSNV - 2/9 2
1-162161940-G-A c.177+37674G>A - IntronicSNV - 2/9 1
1-162162747-G-T c.177+38481G>T - IntronicSNV - 2/9 1
1-162165169-C-T c.177+40903C>T - IntronicSNV - 2/9 1
1-162166043-C-T c.177+41777C>T - IntronicSNV - 2/9 9
1-162166646-G-A c.177+42380G>A - IntronicSNV - 2/9 5
1-162166919-G-C c.177+42653G>C - IntronicSNV - 2/9 2
1-162167884-C-T c.177+43618C>T - IntronicSNV - 2/9 3
1-162167921-G-A c.177+43655G>A - IntronicSNV - 2/9 2
1-162168116-G-A c.177+43850G>A - IntronicSNV - 2/9 1
1-162168116-G-T c.177+43850G>T - IntronicSNV - 2/9 1
1-162168154-G-A c.177+43888G>A - IntronicSNV - 2/9 3
1-162168629-C-G c.177+44363C>G - IntronicSNV - 2/9 2
1-162169122-A-G c.177+44856A>G - IntronicSNV - 2/9 1
1-162169134-T-C c.177+44868T>C - IntronicSNV - 2/9 1
1-162169243-G-A c.177+44977G>A - IntronicSNV - 2/9 1
1-162169268-G-A c.177+45002G>A - IntronicSNV - 2/9 8
1-162169913-T-G c.177+45647T>G - IntronicSNV - 2/9 1
1-162170527-C-A c.177+46261C>A - IntronicSNV - 2/9 1
1-162170692-G-C c.177+46426G>C - IntronicSNV - 2/9 1
1-162171483-G-A c.177+47217G>A - IntronicSNV - 2/9 1
1-162171483-G-T c.177+47217G>T - IntronicSNV - 2/9 1
1-162171517-T-C c.177+47251T>C - IntronicSNV - 2/9 1
1-162171994-G-A c.177+47728G>A - IntronicSNV - 2/9 4
1-162172420-C-T c.177+48154C>T - IntronicSNV - 2/9 1
1-162172689-A-G c.177+48423A>G - IntronicSNV - 2/9 3
1-162173377-A-C c.177+49111A>C - IntronicSNV - 2/9 2
1-162174053-G-A c.177+49787G>A - IntronicSNV - 2/9 1
1-162175889-G-A c.177+51623G>A - IntronicSNV - 2/9 1
1-162175972-G-A c.177+51706G>A - IntronicSNV - 2/9 1
1-162176072-T-C c.177+51806T>C - IntronicSNV - 2/9 1
1-162177522-C-T c.177+53256C>T - IntronicSNV - 2/9 1
1-162177803-G-A c.177+53537G>A - IntronicSNV - 2/9 1
1-162178577-A-C c.177+54311A>C - IntronicSNV - 2/9 1
1-162178577-A-T c.177+54311A>T - IntronicSNV - 2/9 1
1-162178982-A-G c.177+54716A>G - IntronicSNV - 2/9 1
1-162179147-T-C c.177+54881T>C - IntronicSNV - 2/9 1
1-162179481-C-T c.177+55215C>T - IntronicSNV - 2/9 1
1-162179632-C-G c.177+55366C>G - IntronicSNV - 2/9 2
1-162180456-G-A c.177+56190G>A - IntronicSNV - 2/9 4
1-162180494-C-T c.177+56228C>T - IntronicSNV - 2/9 1
1-162180851-G-A c.177+56585G>A - IntronicSNV - 2/9 1
1-162180851-G-C c.177+56585G>C - IntronicSNV - 2/9 1
1-162180938-A-C c.177+56672A>C - IntronicSNV - 2/9 1
1-162180938-A-T c.177+56672A>T - IntronicSNV - 2/9 1
1-162181145-T-A c.177+56879T>A - IntronicSNV - 2/9 3
1-162181641-G-C c.177+57375G>C - IntronicSNV - 2/9 1
1-162182677-C-T c.177+58411C>T - IntronicSNV - 2/9 7
1-162184746-T-C c.177+60480T>C - IntronicSNV - 2/9 1
1-162185432-T-C c.177+61166T>C - IntronicSNV - 2/9 1
1-162185546-G-T c.177+61280G>T - IntronicSNV - 2/9 4
1-162186550-T-C c.177+62284T>C - IntronicSNV - 2/9 3
1-162186931-A-G c.177+62665A>G - IntronicSNV - 2/9 2
1-162187512-A-C c.177+63246A>C - IntronicSNV - 2/9 2
1-162187715-A-G c.177+63449A>G - IntronicSNV - 2/9 1
1-162188515-C-T c.177+64249C>T - IntronicSNV - 2/9 1
1-162189958-G-A c.177+65692G>A - IntronicSNV - 2/9 1
1-162191103-G-A c.178-66031G>A - IntronicSNV - 2/9 3
1-162191412-T-A c.178-65722T>A - IntronicSNV - 2/9 5
1-162191412-T-G c.178-65722T>G - IntronicSNV - 2/9 5
1-162191536-G-T c.178-65598G>T - IntronicSNV - 2/9 1
1-162192112-C-T c.178-65022C>T - IntronicSNV - 2/9 4
1-162193219-G-C c.178-63915G>C - IntronicSNV - 2/9 1
1-162193738-C-T c.178-63396C>T - IntronicSNV - 2/9 1
1-162193878-G-A c.178-63256G>A - IntronicSNV - 2/9 2
1-162194498-T-C c.178-62636T>C - IntronicSNV - 2/9 1
1-162194576-C-T c.178-62558C>T - IntronicSNV - 2/9 2
1-162195110-C-T c.178-62024C>T - IntronicSNV - 2/9 1
1-162195649-C-G c.178-61485C>G - IntronicSNV - 2/9 1
1-162195649-C-T c.178-61485C>T - IntronicSNV - 2/9 1
1-162195738-T-C c.178-61396T>C - IntronicSNV - 2/9 5
1-162195738-T-G c.178-61396T>G - IntronicSNV - 2/9 5
1-162196499-G-A c.178-60635G>A - IntronicSNV - 2/9 1
1-162196530-G-T c.178-60604G>T - IntronicSNV - 2/9 2
1-162196574-T-C c.178-60560T>C - IntronicSNV - 2/9 3
1-162198429-G-A c.178-58705G>A - IntronicSNV - 2/9 2
1-162198542-C-T c.178-58592C>T - IntronicSNV - 2/9 1
1-162199351-C-T c.178-57783C>T - IntronicSNV - 2/9 3
1-162199362-T-A c.178-57772T>A - IntronicSNV - 2/9 2
1-162202488-A-G c.178-54646A>G - IntronicSNV - 2/9 3
1-162203586-A-G c.178-53548A>G - IntronicSNV - 2/9 1
1-162204907-T-C c.178-52227T>C - IntronicSNV - 2/9 2
1-162205161-A-C c.178-51973A>C - IntronicSNV - 2/9 1
1-162206760-C-T c.178-50374C>T - IntronicSNV - 2/9 1
1-162210471-A-G c.178-46663A>G - IntronicSNV - 2/9 2
1-162210610-C-A c.178-46524C>A - IntronicSNV - 2/9 28
1-162210610-C-G c.178-46524C>G - IntronicSNV - 2/9 28
1-162210610-C-T c.178-46524C>T - IntronicSNV - 2/9 28
1-162210954-A-C c.178-46180A>C - IntronicSNV - 2/9 1
1-162210954-A-T c.178-46180A>T - IntronicSNV - 2/9 1
1-162211998-A-G c.178-45136A>G - IntronicSNV - 2/9 1
1-162212991-G-A c.178-44143G>A - IntronicSNV - 2/9 1
1-162212991-G-C c.178-44143G>C - IntronicSNV - 2/9 1
1-162212991-G-T c.178-44143G>T - IntronicSNV - 2/9 1
1-162213769-C-T c.178-43365C>T - IntronicSNV - 2/9 1
1-162213867-T-C c.178-43267T>C - IntronicSNV - 2/9 2
1-162214473-G-A c.178-42661G>A - IntronicSNV - 2/9 1
1-162214762-G-A c.178-42372G>A - IntronicSNV - 2/9 1
1-162215668-G-A c.178-41466G>A - IntronicSNV - 2/9 1
1-162216816-A-T c.178-40318A>T - IntronicSNV - 2/9 1
1-162217432-T-A c.178-39702T>A - IntronicSNV - 2/9 2
1-162217459-C-A c.178-39675C>A - IntronicSNV - 2/9 2
1-162217459-C-G c.178-39675C>G - IntronicSNV - 2/9 2
1-162217939-T-A c.178-39195T>A - IntronicSNV - 2/9 2
1-162217939-T-G c.178-39195T>G - IntronicSNV - 2/9 2
1-162218688-C-T c.178-38446C>T - IntronicSNV - 2/9 9
1-162219101-C-T c.178-38033C>T - IntronicSNV - 2/9 3
1-162220544-C-A c.178-36590C>A - IntronicSNV - 2/9 1
1-162224550-T-C c.178-32584T>C - IntronicSNV - 2/9 2
1-162224586-A-C c.178-32548A>C - IntronicSNV - 2/9 16
1-162224586-A-T c.178-32548A>T - IntronicSNV - 2/9 16
1-162225145-T-A c.178-31989T>A - IntronicSNV - 2/9 1
1-162225278-T-A c.178-31856T>A - IntronicSNV - 2/9 1
1-162225278-T-G c.178-31856T>G - IntronicSNV - 2/9 1
1-162228937-G-C c.178-28197G>C - IntronicSNV - 2/9 1
1-162228937-G-T c.178-28197G>T - IntronicSNV - 2/9 1
1-162229685-C-T c.178-27449C>T - IntronicSNV - 2/9 1
1-162231482-G-A c.178-25652G>A - IntronicSNV - 2/9 1
1-162232025-G-C c.178-25109G>C - IntronicSNV - 2/9 1
1-162237090-C-G c.178-20044C>G - IntronicSNV - 2/9 4
1-162237090-C-T c.178-20044C>T - IntronicSNV - 2/9 4
1-162237777-C-T c.178-19357C>T - IntronicSNV - 2/9 1
1-162237979-G-A c.178-19155G>A - IntronicSNV - 2/9 1
1-162237979-G-C c.178-19155G>C - IntronicSNV - 2/9 1
1-162242875-G-T c.178-14259G>T - IntronicSNV - 2/9 1
1-162244012-C-T c.178-13122C>T - IntronicSNV - 2/9 3
1-162244524-T-A c.178-12610T>A - IntronicSNV - 2/9 2
1-162247296-T-G c.178-9838T>G - IntronicSNV - 2/9 1
1-162247426-A-G c.178-9708A>G - IntronicSNV - 2/9 2
1-162247738-T-C c.178-9396T>C - IntronicSNV - 2/9 2
1-162247779-T-C c.178-9355T>C - IntronicSNV - 2/9 1
1-162248920-A-G c.178-8214A>G - IntronicSNV - 2/9 1
1-162249697-A-G c.178-7437A>G - IntronicSNV - 2/9 1
1-162249715-G-A c.178-7419G>A - IntronicSNV - 2/9 1
1-162252348-G-A c.178-4786G>A - IntronicSNV - 2/9 1
1-162252348-G-C c.178-4786G>C - IntronicSNV - 2/9 1
1-162252414-A-G c.178-4720A>G - IntronicSNV - 2/9 1
1-162252443-G-A c.178-4691G>A - IntronicSNV - 2/9 1
1-162255112-G-T c.178-2022G>T - IntronicSNV - 2/9 3
1-162255286-T-A c.178-1848T>A - IntronicSNV - 2/9 3
1-162255286-T-G c.178-1848T>G - IntronicSNV - 2/9 3
1-162255385-A-T c.178-1749A>T - IntronicSNV - 2/9 3
1-162257033-C-A c.178-101C>A - IntronicSNV - 2/9 2
1-162257033-C-G c.178-101C>G - IntronicSNV - 2/9 2
1-162258904-T-C c.270+1678T>C - IntronicSNV - 3/9 1
1-162258917-C-A c.270+1691C>A - IntronicSNV - 3/9 1
1-162260715-C-T c.270+3489C>T - IntronicSNV - 3/9 1
1-162261826-A-C c.270+4600A>C - IntronicSNV - 3/9 4
1-162263270-G-A c.270+6044G>A - IntronicSNV - 3/9 3
1-162263712-T-G c.270+6486T>G - IntronicSNV - 3/9 1
1-162263712-TGA-GGG c.270+6486_270+6488delinsGGG - IntronicBlockSubstitution - 3/9 1
1-162263754-C-A c.270+6528C>A - IntronicSNV - 3/9 1
1-162264119-G-A c.271-6304G>A - IntronicSNV - 3/9 1
1-162264814-C-G c.271-5609C>G - IntronicSNV - 3/9 7
1-162264814-C-T c.271-5609C>T - IntronicSNV - 3/9 7
1-162265567-C-T c.271-4856C>T - IntronicSNV - 3/9 1
1-162267146-A-T c.271-3277A>T - IntronicSNV - 3/9 1
1-162267823-G-A c.271-2600G>A - IntronicSNV - 3/9 1
1-162269022-G-A c.271-1401G>A - IntronicSNV - 3/9 3
1-162272371-C-G c.344+1875C>G - IntronicSNV - 4/9 1
1-162276432-A-T c.344+5936A>T - IntronicSNV - 4/9 2
1-162278552-T-G c.344+8056T>G - IntronicSNV - 4/9 1
1-162278855-T-C c.344+8359T>C - IntronicSNV - 4/9 1
1-162279218-G-A c.344+8722G>A - IntronicSNV - 4/9 1
1-162279509-G-A c.344+9013G>A - IntronicSNV - 4/9 2
1-162280725-T-A c.344+10229T>A - IntronicSNV - 4/9 3
1-162280725-T-C c.344+10229T>C - IntronicSNV - 4/9 3
1-162281028-T-C c.344+10532T>C - IntronicSNV - 4/9 1
1-162281295-A-G c.344+10799A>G - IntronicSNV - 4/9 1
1-162281295-A-T c.344+10799A>T - IntronicSNV - 4/9 1
1-162283667-G-A c.344+13171G>A - IntronicSNV - 4/9 1
1-162284057-A-G c.344+13561A>G - IntronicSNV - 4/9 2
1-162287125-T-G c.345-15682T>G - IntronicSNV - 4/9 1
1-162287339-A-C c.345-15468A>C - IntronicSNV - 4/9 2
1-162287713-C-T c.345-15094C>T - IntronicSNV - 4/9 1
1-162289271-C-T c.345-13536C>T - IntronicSNV - 4/9 1
1-162289864-C-G c.345-12943C>G - IntronicSNV - 4/9 1
1-162291811-G-A c.345-10996G>A - IntronicSNV - 4/9 1
1-162291811-G-T c.345-10996G>T - IntronicSNV - 4/9 1
1-162292586-C-G c.345-10221C>G - IntronicSNV - 4/9 1
1-162294094-A-G c.345-8713A>G - IntronicSNV - 4/9 2
1-162294282-C-T c.345-8525C>T - IntronicSNV - 4/9 1
1-162297946-A-C c.345-4861A>C - IntronicSNV - 4/9 1
1-162297946-A-G c.345-4861A>G - IntronicSNV - 4/9 1
1-162299823-G-A c.345-2984G>A - IntronicSNV - 4/9 1
1-162301446-C-A c.345-1361C>A - IntronicSNV - 4/9 1
1-162301865-T-G c.345-942T>G - IntronicSNV - 4/9 1
1-162302635-T-A c.345-172T>A - IntronicSNV - 4/9 3
1-162302635-T-C c.345-172T>C - IntronicSNV - 4/9 3
1-162302689-C-T c.345-118C>T - IntronicSNV - 4/9 1
1-162303605-A-G c.453+690A>G - IntronicSNV - 5/9 1
1-162303838-A-G c.453+923A>G - IntronicSNV - 5/9 1
1-162303838-A-T c.453+923A>T - IntronicSNV - 5/9 1
1-162303907-G-C c.453+992G>C - IntronicSNV - 5/9 2
1-162304276-A-G c.453+1361A>G - IntronicSNV - 5/9 5
1-162306295-C-T c.453+3380C>T - IntronicSNV - 5/9 1
1-162306415-T-A c.453+3500T>A - IntronicSNV - 5/9 2
1-162306415-T-G c.453+3500T>G - IntronicSNV - 5/9 2
1-162310313-T-A c.454-3312T>A - IntronicSNV - 5/9 4
1-162310313-T-C c.454-3312T>C - IntronicSNV - 5/9 4
1-162310613-G-A c.454-3012G>A - IntronicSNV - 5/9 1
1-162310706-G-A c.454-2919G>A - IntronicSNV - 5/9 1
1-162310706-G-C c.454-2919G>C - IntronicSNV - 5/9 1
1-162311466-C-T c.454-2159C>T - IntronicSNV - 5/9 1
1-162311686-C-T c.454-1939C>T - IntronicSNV - 5/9 1
1-162311983-T-C c.454-1642T>C - IntronicSNV - 5/9 1
1-162312753-T-A c.454-872T>A - IntronicSNV - 5/9 3
1-162312753-T-G c.454-872T>G - IntronicSNV - 5/9 3
1-162313385-T-A c.454-240T>A - IntronicSNV - 5/9 1
1-162313518-A-G c.454-107A>G - IntronicSNV - 5/9 1
1-162313597-T-A c.454-28T>A - IntronicSNV - 5/9 1
1-162313597-T-C c.454-28T>C - IntronicSNV - 5/9 1
1-162313707-A-G c.536A>G p.Asn179Ser Missense 6/10 - 1
1-162313715-G-C c.544G>C p.Gly182Arg Missense 6/10 - 1
1-162313735-C-G c.564C>G p.Ser188Arg Missense 6/10 - 8
1-162313735-C-T c.564C>T p.Ser188Ser Synonymous 6/10 - 8
1-162313739-AG-CA c.568_569delinsCA p.Arg190Gln Missense 6/10 - 1
1-162317196-C-A c.595+3430C>A - IntronicSNV - 6/9 1
1-162317196-C-T c.595+3430C>T - IntronicSNV - 6/9 1
1-162317513-G-A c.595+3747G>A - IntronicSNV - 6/9 5
1-162317513-G-C c.595+3747G>C - IntronicSNV - 6/9 5
1-162318498-A-G c.595+4732A>G - IntronicSNV - 6/9 4
1-162319524-A-G c.596-5453A>G - IntronicSNV - 6/9 3
1-162321292-C-A c.596-3685C>A - IntronicSNV - 6/9 1
1-162322955-C-T c.596-2022C>T - IntronicSNV - 6/9 2
1-162324445-T-C c.596-532T>C - IntronicSNV - 6/9 2
1-162325613-C-G c.762+470C>G - IntronicSNV - 7/9 1
1-162325613-C-T c.762+470C>T - IntronicSNV - 7/9 1
1-162325823-C-T c.762+680C>T - IntronicSNV - 7/9 4
1-162326804-T-C c.817T>C p.Ser273Pro Missense 8/10 - 1
1-162326804-T-G c.817T>G p.Ser273Ala Missense 8/10 - 1
1-162326809-CTTC-C c.822_824del p.Ser276del InFrameDeletion 8/10 - 1
1-162326811-C-T c.824C>T p.Ser275Phe Missense 8/10 - 1
1-162330190-C-T c.939+3264C>T - IntronicSNV - 8/9 1
1-162330927-C-G c.939+4001C>G - IntronicSNV - 8/9 3
1-162331019-A-G c.939+4093A>G - IntronicSNV - 8/9 1
1-162331408-G-A c.940-3786G>A - IntronicSNV - 8/9 3
1-162331621-A-G c.940-3573A>G - IntronicSNV - 8/9 2
1-162331989-C-T c.940-3205C>T - IntronicSNV - 8/9 1
1-162333154-G-T c.940-2040G>T - IntronicSNV - 8/9 1
1-162333181-C-T c.940-2013C>T - IntronicSNV - 8/9 1
1-162333990-A-G c.940-1204A>G - IntronicSNV - 8/9 3
1-162334100-T-C c.940-1094T>C - IntronicSNV - 8/9 2
1-162334989-C-A c.940-205C>A - IntronicSNV - 8/9 1
1-162335052-C-T c.940-142C>T - IntronicSNV - 8/9 3
1-162335256-C-T c.1002C>T p.Arg334Arg Synonymous 9/10 - 10
1-162335424-T-C c.1105+65T>C - IntronicSNV - 9/9 3
1-162336230-A-T c.1106-612A>T - IntronicSNV - 9/9 1
1-162336937-TC-GG c.1201_1202delinsGG p.Ser401Gly Missense 10/10 - 1
1-162336953-C-T c.1217C>T p.Ala406Val Missense 10/10 - 1
1-162337003-G-A c.1267G>A p.Asp423Asn Missense 10/10 - 2
1-162337012-G-A c.1276G>A p.Val426Met Missense 10/10 - 1
1-162337022-A-C c.1286A>C p.Glu429Ala Missense 10/10 - 2
1-162337027-TT-GC c.1291_1292delinsGC p.Phe431Ala Missense 10/10 - 2
1-162337193-G-A c.1457G>A p.Arg486His Missense 10/10 - 1
1-162338377-C-G c.*1120C>G - 3-UTRSNV 10/10 - 1
1-162338397-A-C c.*1140A>C - 3-UTRSNV 10/10 - 1
1-162338485-A-G c.*1228A>G - 3-UTRSNV 10/10 - 1
1-162338581-T-C c.*1324T>C - 3-UTRSNV 10/10 - 2
1-162339579-T-A c.*2322T>A - 3-UTRSNV 10/10 - 1
1-162339579-T-C c.*2322T>C - 3-UTRSNV 10/10 - 1