MUC4

MUC4 mucin 4, cell surface associated

Annotation transcript: NM_018406.7

9510 unique variant annotations were identified in 1346 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-195473757-G-A c.*290C>T - 3-UTRSNV 25/25 - 3
3-195473757-G-T c.*290C>A - 3-UTRSNV 25/25 - 3
3-195473759-G-T c.*288C>A - 3-UTRSNV 25/25 - 2
3-195473776-T-C c.*271A>G - 3-UTRSNV 25/25 - 2
3-195473783-G-A c.*264C>T - 3-UTRSNV 25/25 - 2
3-195473784-C-G c.*263G>C - 3-UTRSNV 25/25 - 3
3-195473784-C-T c.*263G>A - 3-UTRSNV 25/25 - 3
3-195474057-G-A c.16229C>T p.A5410V Missense 25/25 - 1
3-195474064-C-T c.16222G>A p.A5408T Missense 25/25 - 1
3-195474066-G-C c.16220C>G p.S5407* Nonsense 25/25 - 2
3-195474066-G-T c.16220C>A p.S5407* Nonsense 25/25 - 2
3-195474071-C-A c.16215G>T p.L5405= Synonymous 25/25 - 1
3-195474083-G-C c.16203C>G p.F5401L Missense 25/25 - 1
3-195474083-G-T c.16203C>A p.F5401L Missense 25/25 - 1
3-195474085-A-G c.16201T>C p.F5401L Missense 25/25 - 1
3-195474091-C-T c.16195G>A p.A5399T Missense 25/25 - 2
3-195474102-C-G c.16184G>C p.G5395A Missense 25/25 - 1
3-195474109-A-C c.16177T>G p.F5393V Missense 25/25 - 2
3-195474111-C-T c.16175G>A p.R5392H Missense 25/25 - 2
3-195474112-G-A c.16174C>T p.R5392C Missense 25/25 - 2
3-195474116-G-A c.16170C>T p.V5390= Synonymous 25/25 - 1
3-195474116-G-C c.16170C>G p.V5390= Synonymous 25/25 - 1
3-195474116-G-T c.16170C>A p.V5390= Synonymous 25/25 - 1
3-195474117-A-G c.16169T>C p.V5390A Missense 25/25 - 2
3-195474121-C-T c.16165G>A p.V5389M Missense 25/25 - 1
3-195474122-G-A c.16164C>T p.F5388= Synonymous 25/25 - 2
3-195474126-G-A c.16160C>T p.T5387M Missense 25/25 - 4
3-195474130-C-G c.16156G>C p.G5386R Missense 25/25 - 1
3-195474130-C-T c.16156G>A p.G5386R Missense 25/25 - 1
3-195474132-A-G c.16154T>C p.V5385A Missense 25/25 - 1
3-195474134-C-A c.16152G>T p.G5384= Synonymous 25/25 - 1
3-195474134-C-G c.16152G>C p.G5384= Synonymous 25/25 - 1
3-195474134-C-T c.16152G>A p.G5384= Synonymous 25/25 - 1
3-195474138-A-G c.16148T>C p.L5383P Missense 25/25 - 3
3-195474148-G-A c.16138C>T p.L5380F Missense 25/25 - 1
3-195474150-C-A c.16136G>T p.G5379V Missense 25/25 - 2
3-195474151-C-T c.16135G>A p.G5379S Missense 25/25 - 3
3-195474152-G-A c.16134C>T p.G5378= Synonymous 25/25 - 1
3-195474152-G-C c.16134C>G p.G5378= Synonymous 25/25 - 1
3-195474152-G-T c.16134C>A p.G5378= Synonymous 25/25 - 1
3-195474157-G-A c.16129C>T p.L5377= Synonymous 25/25 - 1
3-195474159-G-A c.16127C>T p.A5376V Missense 25/25 - 15
3-195474160-C-A c.16126G>T p.A5376S Missense 25/25 - 1
3-195474161-C-A c.16125G>T p.G5375= Synonymous 25/25 - 1
3-195474161-C-G c.16125G>C p.G5375= Synonymous 25/25 - 1
3-195474161-C-T c.16125G>A p.G5375= Synonymous 25/25 - 1
3-195474162-C-G c.16124G>C p.G5375A Missense 25/25 - 2
3-195474164-A-C c.16122T>G p.F5374L Missense 25/25 - 1
3-195474164-A-T c.16122T>A p.F5374L Missense 25/25 - 1
3-195474166-A-G c.16120T>C p.F5374L Missense 25/25 - 1
3-195474167-G-A c.16119C>T p.F5373= Synonymous 25/25 - 1
3-195474167-G-T c.16119C>A p.F5373L Missense 25/25 - 1
3-195474170-AG-A c.16116del p.F5373Sfs*33 Frameshift 25/25 - 1
3-195474175-C-T c.16111G>A p.G5371S Missense 25/25 - 1
3-195474176-G-A c.16110C>T p.F5370= Synonymous 25/25 - 1
3-195474182-C-A c.16104G>T p.A5368= Synonymous 25/25 - 1
3-195474182-C-G c.16104G>C p.A5368= Synonymous 25/25 - 1
3-195474182-C-T c.16104G>A p.A5368= Synonymous 25/25 - 1
3-195474183-G-A c.16103C>T p.A5368V Missense 25/25 - 1
3-195474184-C-T c.16102G>A p.A5368T Missense 25/25 - 2
3-195474185-G-A c.16101C>T p.D5367= Synonymous 25/25 - 2
3-195474187-C-T c.16099G>A p.D5367N Missense 25/25 - 1
3-195474197-G-A c.16089C>T p.S5363= Synonymous 25/25 - 1
3-195474200-C-A c.16086G>T p.L5362= Synonymous 25/25 - 2
3-195474200-C-G c.16086G>C p.L5362= Synonymous 25/25 - 1
3-195474200-C-T c.16086G>A p.L5362= Synonymous 25/25 - 2
3-195474202-G-A c.16084C>T p.L5362= Synonymous 25/25 - 1
3-195474204-T-C c.16082A>G p.H5361R Missense 25/25 - 1
3-195474220-C-T c.16066G>A p.G5356S Missense 25/25 - 1
3-195474222-C-A c.16064G>T p.W5355L Missense 25/25 - 1
3-195474239-G-C c.16047C>G p.F5349L Missense 25/25 - 1
3-195474242-G-A c.16044C>T p.S5348= Synonymous 25/25 - 1
3-195474247-C-T c.16039G>A p.V5347M Missense 25/25 - 1
3-195474794-G-A c.16035-543C>T - IntronicSNV - 24/24 1
3-195474794-G-T c.16035-543C>A - IntronicSNV - 24/24 1
3-195475775-G-A c.16032C>T p.C5344= Synonymous 24/25 - 2
3-195475776-CA-GT c.16030_16031delinsAC p.C5344T Missense 24/25 - 1
3-195475776-C-T c.16031G>A p.C5344Y Missense 24/25 - 1
3-195475784-C-A c.16023G>T p.G5341= Synonymous 24/25 - 1
3-195475784-C-G c.16023G>C p.G5341= Synonymous 24/25 - 1
3-195475784-C-T c.16023G>A p.G5341= Synonymous 24/25 - 1
3-195475785-C-G c.16022G>C p.G5341A Missense 24/25 - 1
3-195475790-G-A c.16017C>T p.P5339= Synonymous 24/25 - 1
3-195475790-G-C c.16017C>G p.P5339= Synonymous 24/25 - 1
3-195475790-G-T c.16017C>A p.P5339= Synonymous 24/25 - 1
3-195475798-G-A c.16009C>T p.H5337Y Missense 24/25 - 1
3-195475799-C-T c.16008G>A p.Q5336= Synonymous 24/25 - 3
3-195475801-TGGCACTGGCCTCCATGGTCACAGTAGCCCCTACTGCACGGGGACACGC-T c.15959_16006del p.C5320_Q5336delins* MultiAAMissense 24/25 - 1
3-195475802-G-T c.16005C>A p.C5335* Nonsense 24/25 - 1
3-195475811-T-A c.15996A>T p.G5332= Synonymous 24/25 - 1
3-195475811-T-C c.15996A>G p.G5332= Synonymous 24/25 - 1
3-195475811-T-G c.15996A>C p.G5332= Synonymous 24/25 - 1
3-195475812-C-T c.15995G>A p.G5332E Missense 24/25 - 1
3-195475813-C-T c.15994G>A p.G5332R Missense 24/25 - 1
3-195475816-G-A c.15991C>T p.H5331Y Missense 24/25 - 1
3-195475827-C-T c.15980G>A p.G5327D Missense 24/25 - 1
3-195475829-C-T c.15978G>A p.R5326= Synonymous 24/25 - 1
3-195475831-T-G c.15976A>C p.R5326= Synonymous 24/25 - 1
3-195475839-G-A c.15968C>T p.P5323L Missense 24/25 - 1
3-195475842-G-A c.15965C>T p.S5322F Missense 24/25 - 1
3-195475843-A-G c.15964T>C p.S5322P Missense 24/25 - 1
3-195475847-G-A c.15960C>T p.C5320= Synonymous 24/25 - 1
3-195475853-G-A c.15954C>T p.F5318= Synonymous 24/25 - 2
3-195475853-G-T c.15954C>A p.F5318L Missense 24/25 - 1
3-195475857-C-T c.15950G>A p.G5317D Missense 24/25 - 3
3-195475867-G-A c.15940C>T p.P5314S Missense 24/25 - 1
3-195475869-C-T c.15938G>A p.S5313N Missense 24/25 - 1
3-195475876-C-G c.15931G>C p.V5311L Missense 24/25 - 2
3-195475882-C-T c.15925G>A p.D5309N Missense 24/25 - 2
3-195475883-G-A c.15924C>T p.Y5308= Synonymous 24/25 - 1
3-195475886-G-A c.15921C>T p.G5307= Synonymous 24/25 - 1
3-195475886-G-C c.15921C>G p.G5307= Synonymous 24/25 - 1
3-195475886-G-T c.15921C>A p.G5307= Synonymous 24/25 - 2
3-195475887-C-G c.15920G>C p.G5307A Missense 24/25 - 1
3-195475897-C-T c.15910G>A p.G5304S Missense 24/25 - 1
3-195475900-C-T c.15907G>A p.D5303N Missense 24/25 - 4
3-195475901-G-A c.15906C>T p.C5302= Synonymous 24/25 - 5
3-195475901-G-T c.15906C>A p.C5302* Nonsense 24/25 - 1
3-195475902-C-G c.15905G>C p.C5302S Missense 24/25 - 1
3-195475903-A-T c.15904T>A p.C5302S Missense 24/25 - 1
3-195475909-A-C c.15898T>G p.F5300V Missense 24/25 - 1
3-195475915-C-T c.15892G>A p.A5298T Missense 24/25 - 1
3-195475921-G-C c.15886C>G p.L5296V Missense 24/25 - 3
3-195475922-C-A c.15885G>T p.T5295= Synonymous 24/25 - 1
3-195475922-C-G c.15885G>C p.T5295= Synonymous 24/25 - 2
3-195475922-C-T c.15885G>A p.T5295= Synonymous 24/25 - 2
3-195475923-G-A c.15884C>T p.T5295M Missense 24/25 - 2
3-195475930-C-A c.15877G>T p.V5293L Missense 24/25 - 1
3-195475930-C-G c.15877G>C p.V5293L Missense 24/25 - 1
3-195475930-C-T c.15877G>A p.V5293M Missense 24/25 - 2
3-195475936-C-T c.15872-1G>A - IntronicSNV - 23/24 1
3-195475941-G-A c.15872-6C>T - IntronicSNV - 23/24 1
3-195475989-G-A c.15872-54C>T - IntronicSNV - 23/24 3
3-195476084-C-T c.15872-149G>A - IntronicSNV - 23/24 1
3-195476085-A-G c.15872-150T>C - IntronicSNV - 23/24 3
3-195476085-A-T c.15872-150T>A - IntronicSNV - 23/24 3
3-195476168-T-G c.15872-233A>C - IntronicSNV - 23/24 2
3-195476200-G-A c.15872-265C>T - IntronicSNV - 23/24 1
3-195476200-G-T c.15872-265C>A - IntronicSNV - 23/24 1
3-195476784-A-G c.15872-849T>C - IntronicSNV - 23/24 2
3-195477586-T-C c.15871+174A>G - IntronicSNV - 23/24 1
3-195477689-G-A c.15871+71C>T - IntronicSNV - 23/24 1
3-195477689-G-T c.15871+71C>A - IntronicSNV - 23/24 2
3-195477713-G-A c.15871+47C>T - IntronicSNV - 23/24 4
3-195477713-G-C c.15871+47C>G - IntronicSNV - 23/24 3
3-195477715-C-A c.15871+45G>T - IntronicSNV - 23/24 5
3-195477715-C-T c.15871+45G>A - IntronicSNV - 23/24 4
3-195477759-C-T c.15871+1G>A - IntronicSNV - 23/24 1
3-195477765-G-A c.15866C>T p.T5289I Missense 23/25 - 1
3-195477772-C-T c.15859G>A p.D5287N Missense 23/25 - 1
3-195477775-G-T c.15856C>A p.R5286S Missense 23/25 - 3
3-195477777-A-G c.15854T>C p.V5285A Missense 23/25 - 1
3-195477779-G-A c.15852C>T p.D5284= Synonymous 23/25 - 2
3-195477779-G-C c.15852C>G p.D5284E Missense 23/25 - 1
3-195477785-C-A c.15846G>T p.G5282= Synonymous 23/25 - 3
3-195477785-C-G c.15846G>C p.G5282= Synonymous 23/25 - 1
3-195477785-C-T c.15846G>A p.G5282= Synonymous 23/25 - 1
3-195477786-C-T c.15845G>A p.G5282E Missense 23/25 - 8
3-195477787-C-G c.15844G>C p.G5282R Missense 23/25 - 1
3-195477787-C-T c.15844G>A p.G5282R Missense 23/25 - 2
3-195477791-G-A c.15840C>T p.I5280= Synonymous 23/25 - 17
3-195477791-G-T c.15840C>A p.I5280= Synonymous 23/25 - 4
3-195477793-T-A c.15838A>T p.I5280F Missense 23/25 - 1
3-195477805-ACCAC-A c.15823_15826del p.V5275Sfs*13 Frameshift 23/25 - 1
3-195477810-T-TC c.15820dup p.D5274Gfs*53 Frameshift 23/25 - 1
3-195477811-C-T c.15820G>A p.D5274N Missense 23/25 - 1
3-195477812-G-A c.15819C>T p.N5273= Synonymous 23/25 - 1
3-195477812-G-T c.15819C>A p.N5273K Missense 23/25 - 1
3-195477833-C-T c.15798G>A p.R5266= Synonymous 23/25 - 1
3-195477834-C-T c.15797G>A p.R5266Q Missense 23/25 - 3
3-195477838-G-A c.15793C>T p.P5265S Missense 23/25 - 1
3-195477841-C-T c.15790G>A p.V5264I Missense 23/25 - 1
3-195477848-T-C c.15783A>G p.L5261= Synonymous 23/25 - 1
3-195477850-A-G c.15781T>C p.L5261= Synonymous 23/25 - 1
3-195477854-C-T c.15777G>A p.A5259= Synonymous 23/25 - 3
3-195477857-C-A c.15774G>T p.E5258D Missense 23/25 - 1
3-195477857-C-G c.15774G>C p.E5258D Missense 23/25 - 1
3-195477859-C-T c.15772G>A p.E5258K Missense 23/25 - 1
3-195477863-C-T c.15768G>A p.V5256= Synonymous 23/25 - 1
3-195477866-C-A c.15765G>T p.A5255= Synonymous 23/25 - 1
3-195477866-C-G c.15765G>C p.A5255= Synonymous 23/25 - 1
3-195477866-C-T c.15765G>A p.A5255= Synonymous 23/25 - 1
3-195477867-G-A c.15764C>T p.A5255V Missense 23/25 - 2
3-195477867-G-T c.15764C>A p.A5255E Missense 23/25 - 1
3-195477868-C-T c.15763G>A p.A5255T Missense 23/25 - 1
3-195477872-C-A c.15759G>T p.L5253= Synonymous 23/25 - 2
3-195477872-C-G c.15759G>C p.L5253= Synonymous 23/25 - 2
3-195477872-C-T c.15759G>A p.L5253= Synonymous 23/25 - 2
3-195477874-G-A c.15757C>T p.L5253= Synonymous 23/25 - 3
3-195477888-A-G c.15743T>C p.L5248P Missense 23/25 - 1
3-195477893-G-C c.15738C>G p.D5246E Missense 23/25 - 1
3-195477893-G-T c.15738C>A p.D5246E Missense 23/25 - 1
3-195477899-G-C c.15732C>G p.V5244= Synonymous 23/25 - 2
3-195477902-C-A c.15729G>T p.P5243= Synonymous 23/25 - 2
3-195477902-C-G c.15729G>C p.P5243= Synonymous 23/25 - 2
3-195477902-C-T c.15729G>A p.P5243= Synonymous 23/25 - 2
3-195477903-G-A c.15728C>T p.P5243L Missense 23/25 - 1
3-195477903-G-C c.15728C>G p.P5243R Missense 23/25 - 1
3-195477910-G-A c.15721C>T p.R5241W Missense 23/25 - 2
3-195477915-C-T c.15716G>A p.R5239H Missense 23/25 - 1
3-195477916-CGGT-C c.15713_15715del p.Y5238_R5239delinsC MultiAAMissense 23/25 - 3
3-195477916-G-A c.15715C>T p.R5239C Missense 23/25 - 2
3-195477929-C-A c.15702G>T p.S5234= Synonymous 23/25 - 1
3-195477929-C-G c.15702G>C p.S5234= Synonymous 23/25 - 1
3-195477929-C-T c.15702G>A p.S5234= Synonymous 23/25 - 2
3-195477937-C-A c.15694G>T p.V5232F Missense 23/25 - 1
3-195477946-G-T c.15685C>A p.H5229N Missense 23/25 - 1
3-195477950-G-A c.15681C>T p.I5227= Synonymous 23/25 - 1
3-195477950-G-T c.15681C>A p.I5227= Synonymous 23/25 - 1
3-195477960-C-T c.15671G>A p.G5224E Missense 23/25 - 1
3-195477962-C-A c.15669G>T p.S5223= Synonymous 23/25 - 1
3-195477962-C-G c.15669G>C p.S5223= Synonymous 23/25 - 1
3-195477962-C-T c.15669G>A p.S5223= Synonymous 23/25 - 1
3-195477963-G-A c.15668C>T p.S5223L Missense 23/25 - 2
3-195477965-GGCCGGTGCT-G c.15657_15665del p.A5220_A5222del InFrameDeletion 23/25 - 2
3-195477969-G-A c.15662C>T p.P5221L Missense 23/25 - 1
3-195478012-G-A c.15648-29C>T - IntronicSNV - 22/24 6
3-195478012-G-C c.15648-29C>G - IntronicSNV - 22/24 6
3-195478013-T-G c.15648-30A>C - IntronicSNV - 22/24 1
3-195478021-T-C c.15648-38A>G - IntronicSNV - 22/24 1
3-195478021-T-G c.15648-38A>C - IntronicSNV - 22/24 1
3-195478027-T-G c.15648-44A>C - IntronicSNV - 22/24 1
3-195478082-G-A c.15643C>T p.R5215* Nonsense 22/25 - 1
3-195478093-C-T c.15632G>A p.S5211N Missense 22/25 - 1
3-195478099-C-T c.15626G>A p.R5209H Missense 22/25 - 1
3-195478101-G-A c.15624C>T p.L5208= Synonymous 22/25 - 1
3-195478101-G-C c.15624C>G p.L5208= Synonymous 22/25 - 1
3-195478101-G-T c.15624C>A p.L5208= Synonymous 22/25 - 1
3-195478111-C-G c.15614G>C p.R5205P Missense 22/25 - 1
3-195478122-G-A c.15603C>T p.T5201= Synonymous 22/25 - 2
3-195478122-G-C c.15603C>G p.T5201= Synonymous 22/25 - 2
3-195478122-G-T c.15603C>A p.T5201= Synonymous 22/25 - 3
3-195478133-T-A c.15592A>T p.R5198* Nonsense 22/25 - 1
3-195478188-G-A c.15583-46C>T - IntronicSNV - 21/24 4
3-195478188-G-C c.15583-46C>G - IntronicSNV - 21/24 4
3-195478188-G-T c.15583-46C>A - IntronicSNV - 21/24 4
3-195478694-G-A c.15582+550C>T - IntronicSNV - 21/24 3
3-195478861-A-G c.15582+383T>C - IntronicSNV - 21/24 3
3-195479068-T-C c.15582+176A>G - IntronicSNV - 21/24 1
3-195479183-C-T c.15582+61G>A - IntronicSNV - 21/24 2
3-195479225-C-T c.15582+19G>A - IntronicSNV - 21/24 1
3-195479237-C-T c.15582+7G>A - IntronicSNV - 21/24 2
3-195479244-C-A c.15582G>T p.S5194= Synonymous 21/25 - 1
3-195479244-C-G c.15582G>C p.S5194= Synonymous 21/25 - 1
3-195479244-C-T c.15582G>A p.S5194= Synonymous 21/25 - 2
3-195479250-G-A c.15576C>T p.N5192= Synonymous 21/25 - 1
3-195479256-T-A c.15570A>T p.E5190D Missense 21/25 - 10
3-195479256-T-C c.15570A>G p.E5190= Synonymous 21/25 - 22
3-195479263-A-G c.15563T>C p.M5188T Missense 21/25 - 1
3-195479270-C-A c.15556G>T p.A5186S Missense 21/25 - 1
3-195479270-C-T c.15556G>A p.A5186T Missense 21/25 - 1
3-195479274-T-A c.15552A>T p.E5184D Missense 21/25 - 1
3-195479274-T-G c.15552A>C p.E5184D Missense 21/25 - 2
3-195479275-T-C c.15551A>G p.E5184G Missense 21/25 - 1
3-195479276-C-T c.15550G>A p.E5184K Missense 21/25 - 1
3-195479279-C-G c.15547G>C p.E5183Q Missense 21/25 - 1
3-195479282-C-T c.15544G>A p.E5182K Missense 21/25 - 1
3-195479286-G-T c.15540C>A p.L5180= Synonymous 21/25 - 1
3-195479293-AG-TA c.15532_15533delinsTA p.L5178Y Missense 21/25 - 1
3-195479294-G-A c.15532C>T p.L5178F Missense 21/25 - 1
3-195479303-C-T c.15523G>A p.V5175I Missense 21/25 - 2
3-195479305-C-G c.15521G>C p.R5174T Missense 21/25 - 1
3-195479489-A-G c.15509-172T>C - IntronicSNV - 20/24 1
3-195479490-G-C c.15509-173C>G - IntronicSNV - 20/24 1
3-195479748-G-A c.15508+174C>T - IntronicSNV - 20/24 8
3-195479923-T-A c.15507A>T p.L5169= Synonymous 20/25 - 2
3-195479923-T-C c.15507A>G p.L5169= Synonymous 20/25 - 1
3-195479923-T-G c.15507A>C p.L5169= Synonymous 20/25 - 1
3-195479925-G-A c.15505C>T p.L5169= Synonymous 20/25 - 1
3-195479941-G-C c.15489C>G p.F5163L Missense 20/25 - 1
3-195479941-G-T c.15489C>A p.F5163L Missense 20/25 - 1
3-195479943-A-G c.15487T>C p.F5163L Missense 20/25 - 1
3-195479950-C-T c.15480G>A p.G5160= Synonymous 20/25 - 1
3-195479955-C-T c.15475G>A p.A5159T Missense 20/25 - 1
3-195479962-G-A c.15468C>T p.C5156= Synonymous 20/25 - 1
3-195479967-G-A c.15463C>T p.R5155C Missense 20/25 - 2
3-195479980-G-A c.15450C>T p.A5150= Synonymous 20/25 - 1
3-195479980-G-C c.15450C>G p.A5150= Synonymous 20/25 - 1
3-195479980-G-T c.15450C>A p.A5150= Synonymous 20/25 - 1
3-195479983-TG-T c.15446del p.P5149Qfs*21 Frameshift 20/25 - 3
3-195480011-C-A c.15419G>T p.G5140V Missense 20/25 - 3
3-195480013-C-A c.15417G>T p.L5139= Synonymous 20/25 - 2
3-195480013-C-G c.15417G>C p.L5139= Synonymous 20/25 - 2
3-195480013-C-T c.15417G>A p.L5139= Synonymous 20/25 - 2
3-195480015-G-A c.15415C>T p.L5139= Synonymous 20/25 - 2
3-195480014-AG-TT c.15415_15416delinsAA p.L5139K Missense 20/25 - 1
3-195480018-T-C c.15412A>G p.T5138A Missense 20/25 - 1
3-195480021-G-C c.15409C>G p.Q5137E Missense 20/25 - 1
3-195480023-G-A c.15407C>T p.S5136F Missense 20/25 - 1
3-195480023-G-C c.15407C>G p.S5136C Missense 20/25 - 1
3-195480030-A-G c.15400T>C p.Y5134H Missense 20/25 - 1
3-195480042-G-A c.15388C>T p.Q5130* Nonsense 20/25 - 1
3-195480050-C-T c.15380G>A p.C5127Y Missense 20/25 - 3
3-195480058-C-T c.15372G>A p.V5124= Synonymous 20/25 - 1
3-195480059-A-G c.15371T>C p.V5124A Missense 20/25 - 1
3-195480067-G-T c.15363C>A p.S5121= Synonymous 20/25 - 1
3-195480071-T-C c.15359A>G p.Q5120R Missense 20/25 - 1
3-195480080-C-T c.15350G>A p.C5117Y Missense 20/25 - 1
3-195480080-C-G c.15350G>C p.C5117S Missense 20/25 - 2
3-195480081-A-T c.15349T>A p.C5117S Missense 20/25 - 3
3-195480082-C-A c.15348G>T p.L5116= Synonymous 20/25 - 1
3-195480082-C-G c.15348G>C p.L5116= Synonymous 20/25 - 1
3-195480082-C-T c.15348G>A p.L5116= Synonymous 20/25 - 1
3-195480084-G-A c.15346C>T p.L5116= Synonymous 20/25 - 1
3-195480094-C-A c.15336G>T p.G5112= Synonymous 20/25 - 1
3-195480094-C-G c.15336G>C p.G5112= Synonymous 20/25 - 1
3-195480094-C-T c.15336G>A p.G5112= Synonymous 20/25 - 1
3-195480097-C-A c.15333G>T p.L5111= Synonymous 20/25 - 1
3-195480097-C-G c.15333G>C p.L5111= Synonymous 20/25 - 1
3-195480097-C-T c.15333G>A p.L5111= Synonymous 20/25 - 1
3-195480099-G-A c.15331C>T p.L5111= Synonymous 20/25 - 1
3-195480153-G-A c.15329-52C>T - IntronicSNV - 19/24 1
3-195480414-C-T c.15329-313G>A - IntronicSNV - 19/24 1
3-195480736-C-T c.15328+348G>A - IntronicSNV - 19/24 1
3-195481054-C-T c.15328+30G>A - IntronicSNV - 19/24 1
3-195481085-C-A c.15327G>T p.A5109= Synonymous 19/25 - 1
3-195481085-C-T c.15327G>A p.A5109= Synonymous 19/25 - 1
3-195481086-G-A c.15326C>T p.A5109V Missense 19/25 - 3
3-195481088-A-T c.15324T>A p.C5108* Nonsense 19/25 - 2
3-195481095-C-T c.15317G>A p.R5106Q Missense 19/25 - 3
3-195481096-G-A c.15316C>T p.R5106W Missense 19/25 - 2
3-195481105-C-A c.15307G>T p.G5103W Missense 19/25 - 1
3-195481111-G-T c.15301C>A p.L5101M Missense 19/25 - 2
3-195481119-G-A c.15293C>T p.P5098L Missense 19/25 - 1
3-195481127-C-A c.15285G>T p.E5095D Missense 19/25 - 1
3-195481127-C-G c.15285G>C p.E5095D Missense 19/25 - 3
3-195481129-C-A c.15283G>T p.E5095* Nonsense 19/25 - 5
3-195481130-G-A c.15282C>T p.C5094= Synonymous 19/25 - 1
3-195481136-C-T c.15276G>A p.K5092= Synonymous 19/25 - 1
3-195481144-G-A c.15268C>T p.P5090S Missense 19/25 - 2
3-195481147-C-T c.15265G>A p.V5089I Missense 19/25 - 1
3-195481153-G-A c.15259C>T p.H5087Y Missense 19/25 - 1
3-195481155-A-G c.15257T>C p.V5086A Missense 19/25 - 1
3-195481156-C-T c.15256G>A p.V5086I Missense 19/25 - 1
3-195481160-C-A c.15252G>T p.P5084= Synonymous 19/25 - 1
3-195481160-C-G c.15252G>C p.P5084= Synonymous 19/25 - 1
3-195481160-C-T c.15252G>A p.P5084= Synonymous 19/25 - 1
3-195481170-G-A c.15242C>T p.P5081L Missense 19/25 - 2
3-195481174-C-T c.15238G>A p.E5080K Missense 19/25 - 1
3-195481188-T-C c.15224A>G p.E5075G Missense 19/25 - 1
3-195481189-C-T c.15223G>A p.E5075K Missense 19/25 - 1
3-195481190-G-T c.15222C>A p.S5074= Synonymous 19/25 - 1
3-195481195-C-T c.15217G>A p.G5073S Missense 19/25 - 1
3-195481196-C-T c.15216G>A p.E5072= Synonymous 19/25 - 1
3-195481197-T-A c.15215A>T p.E5072V Missense 19/25 - 1
3-195481198-C-T c.15214G>A p.E5072K Missense 19/25 - 1
3-195481199-G-A c.15213C>T p.C5071= Synonymous 19/25 - 1
3-195481204-A-T c.15208T>A p.Y5070N Missense 19/25 - 1
3-195481206-C-T c.15206G>A p.R5069H Missense 19/25 - 1
3-195481207-G-A c.15205C>T p.R5069C Missense 19/25 - 1
3-195481209-C-T c.15203G>A p.G5068D Missense 19/25 - 1
3-195481210-C-T c.15202G>A p.G5068S Missense 19/25 - 1
3-195481211-G-A c.15201C>T p.F5067= Synonymous 19/25 - 2
3-195481215-G-A c.15197C>T p.T5066I Missense 19/25 - 1
3-195481222-C-G c.15190G>C p.G5064R Missense 19/25 - 3
3-195481222-C-T c.15190G>A p.G5064R Missense 19/25 - 3
3-195481223-G-A c.15189C>T p.D5063= Synonymous 19/25 - 1
3-195481224-T-C c.15188A>G p.D5063G Missense 19/25 - 1
3-195481240-C-G c.15172G>C p.A5058P Missense 19/25 - 1
3-195481444-C-T c.15169-201G>A - IntronicSNV - 18/24 2
3-195484029-A-T c.15157T>A p.S5053T Missense 18/25 - 1
3-195484030-G-A c.15156C>T p.N5052= Synonymous 18/25 - 1
3-195484031-T-C c.15155A>G p.N5052S Missense 18/25 - 2
3-195484033-GCC-CCA c.15151_15153delinsTGG p.G5051W Missense 18/25 - 1
3-195484043-C-T c.15143G>A p.S5048N Missense 18/25 - 1
3-195484071-C-G c.15115G>C p.E5039Q Missense 18/25 - 2
3-195484090-C-T c.15096G>A p.V5032= Synonymous 18/25 - 1
3-195484094-AG-A c.15092del p.T5031Mfs*71 Frameshift 18/25 - 1
3-195484097-CT-TG c.15088_15089delinsCA p.R5030Q Missense 18/25 - 1
3-195484122-C-T c.15064G>A p.G5022S Missense 18/25 - 1
3-195484133-C-G c.15053G>C p.S5018T Missense 18/25 - 2
3-195484141-TAG-CAT c.15043_15045delinsATG p.L5015M Missense 18/25 - 1
3-195484155-T-G c.15031A>C p.T5011P Missense 18/25 - 1
3-195484167-G-A c.15019C>T p.L5007= Synonymous 18/25 - 1
3-195484186-C-T c.15000G>A p.L5000= Synonymous 18/25 - 1
3-195484189-C-A c.14997G>T p.T4999= Synonymous 18/25 - 2
3-195484189-C-G c.14997G>C p.T4999= Synonymous 18/25 - 2
3-195484189-C-T c.14997G>A p.T4999= Synonymous 18/25 - 2
3-195484190-G-A c.14996C>T p.T4999M Missense 18/25 - 1
3-195484244-G-A c.14987-45C>T - IntronicSNV - 17/24 7
3-195484244-G-C c.14987-45C>G - IntronicSNV - 17/24 7
3-195485205-A-G c.14986+790T>C - IntronicSNV - 17/24 1
3-195485440-A-G c.14986+555T>C - IntronicSNV - 17/24 3
3-195485440-A-T c.14986+555T>A - IntronicSNV - 17/24 3
3-195485732-G-A c.14986+263C>T - IntronicSNV - 17/24 1
3-195485862-C-T c.14986+133G>A - IntronicSNV - 17/24 1
3-195485953-T-A c.14986+42A>T - IntronicSNV - 17/24 1
3-195485961-T-A c.14986+34A>T - IntronicSNV - 17/24 1
3-195485968-T-A c.14986+27A>T - IntronicSNV - 17/24 1
3-195485993-A-C c.14986+2T>G - IntronicSNV - 17/24 1
3-195485996-A-G c.14985T>C p.F4995= Synonymous 17/25 - 2
3-195485998-A-C c.14983T>G p.F4995V Missense 17/25 - 1
3-195486002-C-A c.14979G>T p.E4993D Missense 17/25 - 1
3-195486002-C-G c.14979G>C p.E4993D Missense 17/25 - 1
3-195486010-C-T c.14971G>A p.D4991N Missense 17/25 - 1
3-195486011-G-A c.14970C>T p.T4990= Synonymous 17/25 - 1
3-195486011-G-C c.14970C>G p.T4990= Synonymous 17/25 - 1
3-195486011-G-T c.14970C>A p.T4990= Synonymous 17/25 - 1
3-195486023-TCT-CCA c.14956_14958delinsTGG p.R4986W Missense 17/25 - 2
3-195486029-C-T c.14952G>A p.T4984= Synonymous 17/25 - 2
3-195486030-G-A c.14951C>T p.T4984M Missense 17/25 - 3
3-195486047-A-C c.14934T>G p.A4978= Synonymous 17/25 - 2
3-195486047-A-G c.14934T>C p.A4978= Synonymous 17/25 - 2
3-195486047-A-T c.14934T>A p.A4978= Synonymous 17/25 - 2
3-195486064-G-C c.14917C>G p.Q4973E Missense 17/25 - 1
3-195486069-A-G c.14912T>C p.L4971P Missense 17/25 - 1
3-195486072-G-A c.14909C>T p.T4970M Missense 17/25 - 4
3-195486082-C-T c.14899G>A p.G4967R Missense 17/25 - 1
3-195486094-C-T c.14887G>A p.E4963K Missense 17/25 - 3
3-195486095-A-C c.14886T>G p.I4962M Missense 17/25 - 1
3-195486098-C-A c.14883G>T p.V4961= Synonymous 17/25 - 1
3-195486098-C-G c.14883G>C p.V4961= Synonymous 17/25 - 1
3-195486098-C-T c.14883G>A p.V4961= Synonymous 17/25 - 3
3-195486102-C-T c.14879G>A p.R4960H Missense 17/25 - 2
3-195486103-G-A c.14878C>T p.R4960C Missense 17/25 - 1
3-195486103-G-T c.14878C>A p.R4960S Missense 17/25 - 1
3-195486111-T-C c.14870A>G p.N4957S Missense 17/25 - 1
3-195486118-A-G c.14863T>C p.S4955P Missense 17/25 - 1
3-195486121-G-A c.14860C>T p.P4954S Missense 17/25 - 1
3-195486122-C-A c.14859G>T p.P4953= Synonymous 17/25 - 2
3-195486122-C-G c.14859G>C p.P4953= Synonymous 17/25 - 2
3-195486122-C-T c.14859G>A p.P4953= Synonymous 17/25 - 4
3-195486123-G-A c.14858C>T p.P4953L Missense 17/25 - 2
3-195486128-C-T c.14853G>A p.Q4951= Synonymous 17/25 - 2
3-195486130-G-T c.14851C>A p.Q4951K Missense 17/25 - 3
3-195486131-A-C c.14850T>G p.N4950K Missense 17/25 - 2
3-195486131-A-T c.14850T>A p.N4950K Missense 17/25 - 2
3-195487737-A-G c.14848+18T>C - IntronicSNV - 16/24 7
3-195487744-G-A c.14848+11C>T - IntronicSNV - 16/24 1
3-195487756-G-A c.14847C>T p.L4949= Synonymous 16/25 - 1
3-195487758-G-A c.14845C>T p.L4949F Missense 16/25 - 1
3-195487760-G-A c.14843C>T p.T4948I Missense 16/25 - 1
3-195487764-C-T c.14839G>A p.A4947T Missense 16/25 - 1
3-195487765-G-A c.14838C>T p.N4946= Synonymous 16/25 - 3
3-195487766-T-C c.14837A>G p.N4946S Missense 16/25 - 1
3-195487769-G-A c.14834C>T p.A4945V Missense 16/25 - 1
3-195487770-C-T c.14833G>A p.A4945T Missense 16/25 - 2
3-195487777-G-A c.14826C>T p.Y4942= Synonymous 16/25 - 3
3-195487798-C-A c.14805G>T p.T4935= Synonymous 16/25 - 2
3-195487798-C-T c.14805G>A p.T4935= Synonymous 16/25 - 2
3-195487799-G-T c.14804C>A p.T4935K Missense 16/25 - 1
3-195487803-G-A c.14800C>T p.H4934Y Missense 16/25 - 1
3-195487806-G-T c.14797C>A p.L4933I Missense 16/25 - 1
3-195487808-C-T c.14795G>A p.G4932E Missense 16/25 - 1
3-195487809-C-G c.14794G>C p.G4932R Missense 16/25 - 1
3-195487809-C-T c.14794G>A p.G4932R Missense 16/25 - 1
3-195487814-C-G c.14789G>C p.S4930T Missense 16/25 - 1
3-195487816-TGC-ACA c.14785_14787delinsTGT p.A4929C Missense 16/25 - 1
3-195487818-C-T c.14785G>A p.A4929T Missense 16/25 - 1
3-195487819-G-A c.14784C>T p.N4928= Synonymous 16/25 - 1
3-195487823-C-T c.14780G>A p.R4927H Missense 16/25 - 3
3-195487839-CAT-C c.14762_14763del p.Y4921* Frameshift 16/25 - 1
3-195487843-G-T c.14760C>A p.I4920= Synonymous 16/25 - 1
3-195487846-G-T c.14757C>A p.C4919* Nonsense 16/25 - 1
3-195487859-C-G c.14744G>C p.G4915A Missense 16/25 - 1
3-195487861-G-A c.14742C>T p.D4914= Synonymous 16/25 - 1
3-195487863-C-T c.14740G>A p.D4914N Missense 16/25 - 2
3-195487869-T-C c.14734A>G p.N4912D Missense 16/25 - 1
3-195487873-G-A c.14730C>T p.I4910= Synonymous 16/25 - 1
3-195487873-G-T c.14730C>A p.I4910= Synonymous 16/25 - 1
3-195487874-A-G c.14729T>C p.I4910T Missense 16/25 - 3
3-195487876-C-A c.14727G>T p.L4909F Missense 16/25 - 1
3-195487876-C-G c.14727G>C p.L4909F Missense 16/25 - 1
3-195487879-A-G c.14724T>C p.H4908= Synonymous 16/25 - 1
3-195487884-C-T c.14719G>A p.E4907K Missense 16/25 - 1
3-195487892-G-A c.14711C>T p.S4904F Missense 16/25 - 1
3-195487894-G-A c.14709C>T p.S4903= Synonymous 16/25 - 2
3-195487897-G-C c.14706C>G p.N4902K Missense 16/25 - 1
3-195487897-G-T c.14706C>A p.N4902K Missense 16/25 - 1
3-195487898-T-G c.14705A>C p.N4902T Missense 16/25 - 1
3-195487899-T-TA c.14703_14704insT p.N4902* Nonsense 16/25 - 1
3-195487897-G-GT c.14705dup p.N4902Kfs*6 Frameshift 16/25 - 1
3-195487897-GT-G c.14705del p.N4902Tfs*8 Frameshift 16/25 - 5
3-195487906-C-A c.14697G>T p.L4899= Synonymous 16/25 - 1
3-195487908-G-T c.14695C>A p.L4899M Missense 16/25 - 1
3-195487929-T-C c.14674A>G p.T4892A Missense 16/25 - 1
3-195487931-A-G c.14672T>C p.F4891S Missense 16/25 - 2
3-195487932-A-G c.14671T>C p.F4891L Missense 16/25 - 2
3-195487932-A-T c.14671T>A p.F4891I Missense 16/25 - 2
3-195487933-G-A c.14670C>T p.N4890= Synonymous 16/25 - 1
3-195487957-C-T c.14646G>A p.K4882= Synonymous 16/25 - 1
3-195487965-G-A c.14638C>T p.L4880F Missense 16/25 - 1
3-195487970-C-A c.14633G>T p.G4878V Missense 16/25 - 1
3-195487970-C-T c.14633G>A p.G4878D Missense 16/25 - 3
3-195487972-TGT-ACA c.14629_14631inv p.T4877C Missense 16/25 - 1
3-195487984-C-T c.14619G>A p.Q4873= Synonymous 16/25 - 1
3-195487988-C-G c.14615G>C p.W4872S Missense 16/25 - 1
3-195488226-TG-T c.14614+128del - IntronicDeletion - 15/24 1
3-195488360-AT-A c.14608del p.M4870* Frameshift 15/25 - 1
3-195488364-C-A c.14605G>T p.G4869* Nonsense 15/25 - 1
3-195488365-A-C c.14604T>G p.F4868L Missense 15/25 - 1
3-195488365-A-T c.14604T>A p.F4868L Missense 15/25 - 1
3-195488367-A-G c.14602T>C p.F4868L Missense 15/25 - 1
3-195488370-G-A c.14599C>T p.H4867Y Missense 15/25 - 1
3-195488387-G-A c.14582C>T p.P4861L Missense 15/25 - 1
3-195488393-C-T c.14576G>A p.G4859E Missense 15/25 - 3
3-195488397-G-T c.14572C>A p.P4858T Missense 15/25 - 1
3-195488399-G-A c.14570C>T p.P4857L Missense 15/25 - 2
3-195488403-AT-A c.14566del p.I4856Ffs*15 Frameshift 15/25 - 1
3-195488404-G-A c.14565C>T p.T4855= Synonymous 15/25 - 1
3-195488404-G-C c.14565C>G p.T4855= Synonymous 15/25 - 1
3-195488404-G-T c.14565C>A p.T4855= Synonymous 15/25 - 1
3-195488409-A-G c.14560T>C p.S4854P Missense 15/25 - 1
3-195488411-C-T c.14558G>A p.G4853D Missense 15/25 - 1
3-195488430-C-T c.14539G>A p.D4847N Missense 15/25 - 1
3-195488431-G-A c.14538C>T p.D4846= Synonymous 15/25 - 3
3-195488447-T-G c.14522A>C p.N4841T Missense 15/25 - 1
3-195488449-C-T c.14520G>A p.W4840* Nonsense 15/25 - 4
3-195488450-C-T c.14519G>A p.W4840* Nonsense 15/25 - 1
3-195488454-C-T c.14515G>A p.V4839I Missense 15/25 - 1
3-195488687-G-A c.14513-231C>T - IntronicSNV - 14/24 1
3-195488971-C-A c.14499G>T p.T4833= Synonymous 14/25 - 1
3-195488971-C-G c.14499G>C p.T4833= Synonymous 14/25 - 1
3-195488971-C-T c.14499G>A p.T4833= Synonymous 14/25 - 1
3-195488976-G-A c.14494C>T p.R4832C Missense 14/25 - 2
3-195488980-C-T c.14490G>A p.Q4830= Synonymous 14/25 - 3
3-195489007-G-A c.14463C>T p.A4821= Synonymous 14/25 - 3
3-195489007-G-C c.14463C>G p.A4821= Synonymous 14/25 - 2
3-195489007-G-T c.14463C>A p.A4821= Synonymous 14/25 - 2
3-195489009-C-A c.14461G>T p.A4821S Missense 14/25 - 27
3-195489009-C-T c.14461G>A p.A4821T Missense 14/25 - 12
3-195489010-G-A c.14460C>T p.H4820= Synonymous 14/25 - 1
3-195489015-G-C c.14455C>G p.L4819V Missense 14/25 - 1
3-195489018-T-G c.14452A>C p.I4818L Missense 14/25 - 1
3-195489029-G-A c.14441C>T p.A4814V Missense 14/25 - 1
3-195489041-A-T c.14429T>A p.V4810D Missense 14/25 - 1
3-195489043-G-A c.14427C>T p.T4809= Synonymous 14/25 - 2
3-195489043-G-C c.14427C>G p.T4809= Synonymous 14/25 - 1
3-195489043-G-T c.14427C>A p.T4809= Synonymous 14/25 - 1
3-195489054-C-T c.14416G>A p.G4806S Missense 14/25 - 2
3-195489055-G-A c.14415C>T p.D4805= Synonymous 14/25 - 2
3-195489057-C-A c.14413G>T p.D4805Y Missense 14/25 - 4
3-195489063-T-C c.14407A>G p.S4803G Missense 14/25 - 1
3-195489065-G-T c.14405C>A p.A4802D Missense 14/25 - 1
3-195489066-C-T c.14404G>A p.A4802T Missense 14/25 - 4
3-195489067-C-A c.14403G>T p.S4801= Synonymous 14/25 - 3
3-195489067-C-G c.14403G>C p.S4801= Synonymous 14/25 - 14
3-195489067-C-T c.14403G>A p.S4801= Synonymous 14/25 - 13
3-195489068-G-A c.14402C>T p.S4801L Missense 14/25 - 1
3-195489080-C-G c.14390G>C p.G4797A Missense 14/25 - 1
3-195489081-C-T c.14389G>A p.G4797S Missense 14/25 - 1
3-195489086-C-A c.14384G>T p.R4795L Missense 14/25 - 1
3-195489086-C-T c.14384G>A p.R4795H Missense 14/25 - 1
3-195489089-C-T c.14381G>A p.S4794N Missense 14/25 - 1
3-195489093-G-A c.14377C>T p.L4793= Synonymous 14/25 - 1
3-195489094-G-A c.14376C>T p.L4792= Synonymous 14/25 - 1
3-195489097-G-A c.14373C>T p.V4791= Synonymous 14/25 - 2
3-195489097-G-C c.14373C>G p.V4791= Synonymous 14/25 - 1
3-195489097-G-T c.14373C>A p.V4791= Synonymous 14/25 - 1
3-195489098-A-G c.14372T>C p.V4791A Missense 14/25 - 1
3-195489100-T-A c.14370A>T p.G4790= Synonymous 14/25 - 3
3-195489100-T-C c.14370A>G p.G4790= Synonymous 14/25 - 2
3-195489100-T-G c.14370A>C p.G4790= Synonymous 14/25 - 2
3-195489101-C-T c.14369G>A p.G4790E Missense 14/25 - 1
3-195489107-G-A c.14363C>T p.A4788V Missense 14/25 - 1
3-195489109-G-A c.14361C>T p.N4787= Synonymous 14/25 - 2
3-195489335-C-T c.14345-210G>A - IntronicSNV - 13/24 2
3-195489436-G-A c.14344+290C>T - IntronicSNV - 13/24 1
3-195489446-G-C c.14344+280C>G - IntronicSNV - 13/24 1
3-195489465-A-G c.14344+261T>C - IntronicSNV - 13/24 1
3-195489468-C-G c.14344+258G>C - IntronicSNV - 13/24 1
3-195489482-C-A c.14344+244G>T - IntronicSNV - 13/24 1
3-195489512-G-C c.14344+214C>G - IntronicSNV - 13/24 1
3-195489531-A-G c.14344+195T>C - IntronicSNV - 13/24 2
3-195489534-G-A c.14344+192C>T - IntronicSNV - 13/24 1
3-195489534-G-C c.14344+192C>G - IntronicSNV - 13/24 2
3-195489553-A-C c.14344+173T>G - IntronicSNV - 13/24 1
3-195489553-A-G c.14344+173T>C - IntronicSNV - 13/24 2
3-195489568-G-A c.14344+158C>T - IntronicSNV - 13/24 2
3-195489572-A-C c.14344+154T>G - IntronicSNV - 13/24 2
3-195489577-T-C c.14344+149A>G - IntronicSNV - 13/24 3
3-195489577-T-G c.14344+149A>C - IntronicSNV - 13/24 2
3-195489582-G-A c.14344+144C>T - IntronicSNV - 13/24 2
3-195489582-G-C c.14344+144C>G - IntronicSNV - 13/24 3
3-195489584-G-C c.14344+142C>G - IntronicSNV - 13/24 2
3-195489584-G-T c.14344+142C>A - IntronicSNV - 13/24 3
3-195489656-G-A c.14344+70C>T - IntronicSNV - 13/24 2
3-195489669-C-T c.14344+57G>A - IntronicSNV - 13/24 5
3-195489726-C-T c.14344G>A p.G4782S Missense 13/25 - 1
3-195489730-G-A c.14340C>T p.G4780= Synonymous 13/25 - 1
3-195489730-G-C c.14340C>G p.G4780= Synonymous 13/25 - 1
3-195489730-G-T c.14340C>A p.G4780= Synonymous 13/25 - 1
3-195489733-G-A c.14337C>T p.D4779= Synonymous 13/25 - 1
3-195489761-G-A c.14309C>T p.T4770I Missense 13/25 - 1
3-195489761-G-T c.14309C>A p.T4770N Missense 13/25 - 1
3-195489767-T-C c.14303A>G p.N4768S Missense 13/25 - 1
3-195489778-G-A c.14292C>T p.V4764= Synonymous 13/25 - 1
3-195489786-T-C c.14284A>G p.I4762V Missense 13/25 - 1
3-195489789-C-T c.14281G>A p.A4761T Missense 13/25 - 1
3-195489791-T-C c.14279A>G p.D4760G Missense 13/25 - 1
3-195489798-G-A c.14272C>T p.P4758S Missense 13/25 - 1
3-195489930-C-T c.14254-114G>A - IntronicSNV - 12/24 2
3-195490144-C-A c.14253+160G>T - IntronicSNV - 12/24 4
3-195490241-C-T c.14253+63G>A - IntronicSNV - 12/24 1
3-195490281-G-T c.14253+23C>A - IntronicSNV - 12/24 1
3-195490284-T-C c.14253+20A>G - IntronicSNV - 12/24 5
3-195490309-C-G c.14248G>C p.V4750L Missense 12/25 - 1
3-195490309-C-T c.14248G>A p.V4750I Missense 12/25 - 5
3-195490314-C-T c.14243G>A p.G4748D Missense 12/25 - 1
3-195490326-G-C c.14231C>G p.S4744C Missense 12/25 - 1
3-195490330-G-A c.14227C>T p.R4743C Missense 12/25 - 1
3-195490331-G-A c.14226C>T p.Y4742= Synonymous 12/25 - 1
3-195490333-A-G c.14224T>C p.Y4742H Missense 12/25 - 1
3-195490339-C-T c.14218G>A p.A4740T Missense 12/25 - 1
3-195490340-C-A c.14217G>T p.A4739= Synonymous 12/25 - 3
3-195490340-C-G c.14217G>C p.A4739= Synonymous 12/25 - 3
3-195490340-C-T c.14217G>A p.A4739= Synonymous 12/25 - 4
3-195490381-G-T c.14176C>A p.Q4726K Missense 12/25 - 1
3-195490384-C-T c.14173G>A p.A4725T Missense 12/25 - 2
3-195490388-G-A c.14169C>T p.R4723= Synonymous 12/25 - 1
3-195490388-G-C c.14169C>G p.R4723= Synonymous 12/25 - 1
3-195490388-G-T c.14169C>A p.R4723= Synonymous 12/25 - 1
3-195490396-G-A c.14161C>T p.Q4721* Nonsense 12/25 - 1
3-195490398-A-G c.14159T>C p.L4720P Missense 12/25 - 1
3-195490416-C-A c.14141G>T p.G4714V Missense 12/25 - 1
3-195490418-G-A c.14139C>T p.D4713= Synonymous 12/25 - 2
3-195490423-G-A c.14134C>T p.Q4712* Nonsense 12/25 - 2
3-195490433-C-A c.14124G>T p.L4708= Synonymous 12/25 - 1
3-195490445-C-T c.14112G>A p.G4704= Synonymous 12/25 - 1
3-195490449-A-G c.14108T>C p.L4703P Missense 12/25 - 1
3-195490450-G-A c.14107C>T p.L4703= Synonymous 12/25 - 1
3-195490481-G-A c.14076C>T p.T4692= Synonymous 12/25 - 1
3-195490482-G-C c.14075C>G p.T4692S Missense 12/25 - 1
3-195490489-T-G c.14068A>C p.I4690L Missense 12/25 - 2
3-195490491-TG-GT c.14065_14066delinsAC p.H4689T Missense 12/25 - 1
3-195490492-G-C c.14065C>G p.H4689D Missense 12/25 - 1
3-195490491-TG-T c.14065del p.H4689Tfs*83 Frameshift 12/25 - 1
3-195490499-C-A c.14058G>T p.G4686= Synonymous 12/25 - 1
3-195490500-C-A c.14057G>T p.G4686V Missense 12/25 - 1
3-195490502-G-A c.14055C>T p.F4685= Synonymous 12/25 - 4
3-195490504-A-G c.14053T>C p.F4685L Missense 12/25 - 1
3-195490508-C-T c.14049G>A p.W4683* Nonsense 12/25 - 2
3-195490509-C-T c.14048G>A p.W4683* Nonsense 12/25 - 2
3-195490839-ATCC-A c.14044+75_14044+77del - IntronicDeletion - 11/24 1
3-195490839-T-A c.14044+77A>T - IntronicSNV - 11/24 2
3-195490839-T-C c.14044+77A>G - IntronicSNV - 11/24 2
3-195490843-AGATG-A c.14044+70_14044+73del - IntronicDeletion - 11/24 1
3-195490846-G-A c.14044+70C>T - IntronicSNV - 11/24 1
3-195490846-G-C c.14044+70C>G - IntronicSNV - 11/24 1
3-195490888-C-T c.14044+28G>A - IntronicSNV - 11/24 1
3-195490916-C-T c.14044G>A p.A4682T Missense 11/25 - 1
3-195490917-G-A c.14043C>T p.P4681= Synonymous 11/25 - 3
3-195490917-G-C c.14043C>G p.P4681= Synonymous 11/25 - 2
3-195490917-G-T c.14043C>A p.P4681= Synonymous 11/25 - 2
3-195490918-G-A c.14042C>T p.P4681L Missense 11/25 - 1
3-195490924-G-T c.14036C>A p.P4679Q Missense 11/25 - 1
3-195490926-G-A c.14034C>T p.P4678= Synonymous 11/25 - 2
3-195490926-G-C c.14034C>G p.P4678= Synonymous 11/25 - 1
3-195490926-G-T c.14034C>A p.P4678= Synonymous 11/25 - 1
3-195490933-T-C c.14027A>G p.Y4676C Missense 11/25 - 1
3-195490935-T-G c.14025A>C p.T4675= Synonymous 11/25 - 1
3-195490942-CA-GT c.14017_14018delinsAC p.C4673T Missense 11/25 - 1
3-195490945-C-G c.14015G>C p.G4672A Missense 11/25 - 1
3-195490946-C-A c.14014G>T p.G4672C Missense 11/25 - 1
3-195490950-G-A c.14010C>T p.H4670= Synonymous 11/25 - 2
3-195490952-G-A c.14008C>T p.H4670Y Missense 11/25 - 1
3-195490954-G-A c.14006C>T p.P4669L Missense 11/25 - 1
3-195490957-C-T c.14003G>A p.R4668Q Missense 11/25 - 2
3-195490958-G-A c.14002C>T p.R4668W Missense 11/25 - 2
3-195490960-CT-AG c.13999_14000inv p.R4667L Missense 11/25 - 1
3-195490963-T-A c.13997A>T p.Q4666L Missense 11/25 - 1
3-195490965-C-T c.13995G>A p.Q4665= Synonymous 11/25 - 1
3-195490967-G-A c.13993C>T p.Q4665* Nonsense 11/25 - 2
3-195490970-A-T c.13990T>A p.Y4664N Missense 11/25 - 1
3-195490977-A-T c.13983T>A p.C4661* Nonsense 11/25 - 1
3-195490982-G-A c.13978C>T p.L4660F Missense 11/25 - 1
3-195490985-A-G c.13975T>C p.Y4659H Missense 11/25 - 1
3-195490986-G-T c.13974C>A p.P4658= Synonymous 11/25 - 1
3-195491003-G-A c.13957C>T p.R4653C Missense 11/25 - 4
3-195491005-CA-GT c.13954_13955delinsAC p.C4652T Missense 11/25 - 1
3-195491030-C-T c.13930G>A p.E4644K Missense 11/25 - 2
3-195491138-G-T c.13925-103C>A - IntronicSNV - 10/24 1
3-195491180-C-T c.13925-145G>A - IntronicSNV - 10/24 3
3-195491692-T-A c.13924+176A>T - IntronicSNV - 10/24 1
3-195491856-G-T c.13924+12C>A - IntronicSNV - 10/24 1
3-195491880-G-A c.13912C>T p.P4638S Missense 10/25 - 1
3-195491888-A-G c.13904T>C p.V4635A Missense 10/25 - 2
3-195491889-C-T c.13903G>A p.V4635M Missense 10/25 - 3
3-195491890-G-A c.13902C>T p.H4634= Synonymous 10/25 - 1
3-195491898-C-A c.13894G>T p.G4632C Missense 10/25 - 1
3-195491903-C-T c.13889G>A p.R4630H Missense 10/25 - 1
3-195491904-G-A c.13888C>T p.R4630C Missense 10/25 - 3
3-195491914-C-A c.13878G>T p.W4626C Missense 10/25 - 1
3-195491920-C-G c.13872G>C p.G4624= Synonymous 10/25 - 1
3-195491922-C-G c.13870G>C p.G4624R Missense 10/25 - 1
3-195491922-C-T c.13870G>A p.G4624R Missense 10/25 - 1
3-195491932-G-A c.13860C>T p.C4620= Synonymous 10/25 - 1
3-195491934-A-G c.13858T>C p.C4620R Missense 10/25 - 1
3-195491936-A-G c.13856T>C p.V4619A Missense 10/25 - 2
3-195491938-G-A c.13854C>T p.G4618= Synonymous 10/25 - 1
3-195491938-G-C c.13854C>G p.G4618= Synonymous 10/25 - 1
3-195491938-G-T c.13854C>A p.G4618= Synonymous 10/25 - 1
3-195491943-C-T c.13849G>A p.G4617R Missense 10/25 - 1
3-195491960-C-A c.13832G>T p.S4611I Missense 10/25 - 1
3-195491962-G-A c.13830C>T p.C4610= Synonymous 10/25 - 1
3-195491978-C-T c.13814G>A p.G4605D Missense 10/25 - 2
3-195491982-G-A c.13810C>T p.L4604F Missense 10/25 - 1
3-195491985-C-T c.13807G>A p.G4603S Missense 10/25 - 1
3-195491986-C-T c.13806G>A p.W4602* Nonsense 10/25 - 1
3-195491991-G-A c.13801C>T p.R4601C Missense 10/25 - 3
3-195492027-T-C c.13799-34A>G - IntronicSNV - 9/24 7
3-195492027-T-G c.13799-34A>C - IntronicSNV - 9/24 7
3-195492087-C-T c.13798+54G>A - IntronicSNV - 9/24 1
3-195492143-A-G c.13796T>C p.I4599T Missense 9/25 - 1
3-195492148-G-A c.13791C>T p.V4597= Synonymous 9/25 - 3
3-195492148-G-C c.13791C>G p.V4597= Synonymous 9/25 - 2
3-195492148-G-T c.13791C>A p.V4597= Synonymous 9/25 - 2
3-195492150-C-A c.13789G>T p.V4597F Missense 9/25 - 1
3-195492151-G-A c.13788C>T p.P4596= Synonymous 9/25 - 1
3-195492151-G-C c.13788C>G p.P4596= Synonymous 9/25 - 1
3-195492151-G-T c.13788C>A p.P4596= Synonymous 9/25 - 1
3-195492161-C-T c.13778G>A p.R4593Q Missense 9/25 - 1
3-195492170-C-T c.13769G>A p.R4590Q Missense 9/25 - 4
3-195492171-G-A c.13768C>T p.R4590W Missense 9/25 - 1
3-195492173-C-T c.13766G>A p.R4589Q Missense 9/25 - 1
3-195492180-G-A c.13759C>T p.Q4587* Nonsense 9/25 - 1
3-195492185-C-T c.13754G>A p.W4585* Nonsense 9/25 - 1
3-195492195-G-T c.13744C>A p.P4582T Missense 9/25 - 1
3-195492214-G-A c.13725C>T p.G4575= Synonymous 9/25 - 1
3-195492226-C-T c.13713G>A p.W4571* Nonsense 9/25 - 1
3-195492227-C-T c.13712G>A p.W4571* Nonsense 9/25 - 1
3-195492231-G-A c.13708C>T p.R4570W Missense 9/25 - 5
3-195492241-C-A c.13698G>T p.K4566N Missense 9/25 - 1
3-195492241-C-G c.13698G>C p.K4566N Missense 9/25 - 2
3-195492241-C-CT c.13697dup p.S4567Efs*41 Frameshift 9/25 - 1
3-195492252-G-A c.13687C>T p.Q4563* Nonsense 9/25 - 1
3-195492258-A-C c.13681T>G p.C4561G Missense 9/25 - 1
3-195492261-C-T c.13678G>A p.E4560K Missense 9/25 - 3
3-195492262-G-A c.13677C>T p.L4559= Synonymous 9/25 - 3
3-195492263-A-T c.13676T>A p.L4559H Missense 9/25 - 1
3-195492264-G-A c.13675C>T p.L4559F Missense 9/25 - 1
3-195492266-C-T c.13673G>A p.R4558H Missense 9/25 - 7
3-195492275-G-T c.13664C>A p.P4555H Missense 9/25 - 1
3-195492277-C-T c.13662G>A p.R4554= Synonymous 9/25 - 1
3-195492279-T-G c.13660A>C p.R4554= Synonymous 9/25 - 1
3-195492283-T-C c.13656A>G p.E4552= Synonymous 9/25 - 1
3-195492285-C-T c.13654G>A p.E4552K Missense 9/25 - 3
3-195492286-C-A c.13653G>T p.R4551= Synonymous 9/25 - 1
3-195492286-C-G c.13653G>C p.R4551= Synonymous 9/25 - 1
3-195492286-C-T c.13653G>A p.R4551= Synonymous 9/25 - 1
3-195492288-G-A c.13651C>T p.R4551W Missense 9/25 - 2
3-195492288-G-T c.13651C>A p.R4551= Synonymous 9/25 - 1
3-195492290-T-C c.13649A>G p.H4550R Missense 9/25 - 1
3-195492292-T-A c.13647A>T p.L4549= Synonymous 9/25 - 1
3-195492292-T-C c.13647A>G p.L4549= Synonymous 9/25 - 1
3-195492292-T-G c.13647A>C p.L4549= Synonymous 9/25 - 1
3-195492294-G-A c.13645C>T p.L4549= Synonymous 9/25 - 1
3-195492295-C-G c.13644G>C p.R4548S Missense 9/25 - 1
3-195492295-C-T c.13644G>A p.R4548= Synonymous 9/25 - 1
3-195492306-G-A c.13633C>T p.Q4545* Nonsense 9/25 - 1
3-195492817-C-T c.13619-497G>A - IntronicSNV - 8/24 1
3-195492894-C-G c.13619-574G>C - IntronicSNV - 8/24 1
3-195492894-C-T c.13619-574G>A - IntronicSNV - 8/24 1
3-195493355-C-T c.13618+179G>A - IntronicSNV - 8/24 1
3-195493545-T-G c.13607A>C p.N4536T Missense 8/25 - 1
3-195493553-T-A c.13599A>T p.R4533S Missense 8/25 - 1
3-195493553-T-G c.13599A>C p.R4533S Missense 8/25 - 1
3-195493563-C-T c.13589G>A p.R4530H Missense 8/25 - 1
3-195493574-C-T c.13578G>A p.W4526* Nonsense 8/25 - 2
3-195493575-C-T c.13577G>A p.W4526* Nonsense 8/25 - 2
3-195493576-A-T c.13576T>A p.W4526R Missense 8/25 - 1
3-195493577-C-A c.13575G>T p.V4525= Synonymous 8/25 - 1
3-195493577-C-G c.13575G>C p.V4525= Synonymous 8/25 - 1
3-195493577-C-T c.13575G>A p.V4525= Synonymous 8/25 - 1
3-195493582-G-T c.13570C>A p.P4524T Missense 8/25 - 3
3-195493583-C-T c.13569G>A p.Q4523= Synonymous 8/25 - 1
3-195493586-G-A c.13566C>T p.S4522= Synonymous 8/25 - 2
3-195493586-G-C c.13566C>G p.S4522= Synonymous 8/25 - 1
3-195493586-G-T c.13566C>A p.S4522= Synonymous 8/25 - 1
3-195493594-G-C c.13558C>G p.L4520V Missense 8/25 - 1
3-195493597-G-A c.13555C>T p.P4519S Missense 8/25 - 1
3-195493598-G-A c.13554C>T p.S4518= Synonymous 8/25 - 1
3-195493606-C-T c.13546G>A p.E4516K Missense 8/25 - 2
3-195493607-G-A c.13545C>T p.F4515= Synonymous 8/25 - 5
3-195493608-A-T c.13544T>A p.F4515Y Missense 8/25 - 1
3-195493609-A-T c.13543T>A p.F4515I Missense 8/25 - 1
3-195493611-T-C c.13541A>G p.Y4514C Missense 8/25 - 1
3-195493977-G-C c.13530-355C>G - IntronicSNV - 7/24 1
3-195494396-C-T c.13530-774G>A - IntronicSNV - 7/24 3
3-195494400-C-T c.13530-778G>A - IntronicSNV - 7/24 2
3-195494401-G-A c.13530-779C>T - IntronicSNV - 7/24 2
3-195494703-T-C c.13530-1081A>G - IntronicSNV - 7/24 1
3-195495900-A-C c.13522T>G p.F4508V Missense 7/25 - 1
3-195495900-A-G c.13522T>C p.F4508L Missense 7/25 - 1
3-195495905-A-G c.13517T>C p.M4506T Missense 7/25 - 1
3-195495907-G-A c.13515C>T p.L4505= Synonymous 7/25 - 1
3-195495907-G-C c.13515C>G p.L4505= Synonymous 7/25 - 1
3-195495907-G-T c.13515C>A p.L4505= Synonymous 7/25 - 1
3-195495913-C-A c.13509G>T p.P4503= Synonymous 7/25 - 1
3-195495914-G-A c.13508C>T p.P4503L Missense 7/25 - 1
3-195495916-G-A c.13506C>T p.N4502= Synonymous 7/25 - 13
3-195495916-G-C c.13506C>G p.N4502K Missense 7/25 - 28
3-195495916-G-T c.13506C>A p.N4502K Missense 7/25 - 16
3-195495919-G-A c.13503C>T p.G4501= Synonymous 7/25 - 1
3-195495919-G-C c.13503C>G p.G4501= Synonymous 7/25 - 1
3-195495919-G-T c.13503C>A p.G4501= Synonymous 7/25 - 1
3-195495924-A-G c.13498T>C p.S4500P Missense 7/25 - 1
3-195495930-G-A c.13492C>T p.Q4498* Nonsense 7/25 - 1
3-195495935-A-G c.13487T>C p.V4496A Missense 7/25 - 2
3-195495937-G-A c.13485C>T p.D4495= Synonymous 7/25 - 3
3-195495953-C-T c.13469G>A p.G4490D Missense 7/25 - 1
3-195495954-C-T c.13468G>A p.G4490S Missense 7/25 - 4
3-195495955-G-A c.13467C>T p.S4489= Synonymous 7/25 - 1
3-195495959-T-C c.13463A>G p.Q4488R Missense 7/25 - 1
3-195495962-TAGAGAAACAGGGCATAGGACCTGCTCCCGTCCGTGG-T c.13424_13459del p.S4475_L4486del InFrameDeletion 7/25 - 1
3-195495980-G-GA c.13441dup p.S4481Ffs*30 Frameshift 7/25 - 1
3-195495985-G-C c.13437C>G p.S4479R Missense 7/25 - 1
3-195495989-C-T c.13433G>A p.G4478E Missense 7/25 - 1
3-195495990-C-T c.13432G>A p.G4478R Missense 7/25 - 1
3-195495991-G-A c.13431C>T p.D4477= Synonymous 7/25 - 1
3-195495995-G-A c.13427C>T p.T4476M Missense 7/25 - 1
3-195496005-T-C c.13417A>G p.I4473V Missense 7/25 - 1
3-195496007-G-A c.13415C>T p.A4472V Missense 7/25 - 1
3-195496008-C-A c.13414G>T p.A4472S Missense 7/25 - 1
3-195496008-C-T c.13414G>A p.A4472T Missense 7/25 - 2
3-195496011-G-A c.13411C>T p.Q4471* Nonsense 7/25 - 1
3-195496129-C-T c.13399-106G>A - IntronicSNV - 6/24 5
3-195496147-A-T c.13399-124T>A - IntronicSNV - 6/24 1
3-195497089-C-T c.13396G>A p.G4466R Missense 6/25 - 1
3-195497090-G-A c.13395C>T p.L4465= Synonymous 6/25 - 1
3-195497090-G-C c.13395C>G p.L4465= Synonymous 6/25 - 1
3-195497090-G-T c.13395C>A p.L4465= Synonymous 6/25 - 1
3-195497091-A-T c.13394T>A p.L4465H Missense 6/25 - 1
3-195497102-G-A c.13383C>T p.A4461= Synonymous 6/25 - 1
3-195497107-G-A c.13378C>T p.P4460S Missense 6/25 - 2
3-195497114-G-A c.13371C>T p.H4457= Synonymous 6/25 - 1
3-195497115-T-A c.13370A>T p.H4457L Missense 6/25 - 1
3-195497118-G-A c.13367C>T p.A4456V Missense 6/25 - 2
3-195497119-C-A c.13366G>T p.A4456S Missense 6/25 - 1
3-195497121-T-C c.13364A>G p.N4455S Missense 6/25 - 2
3-195497124-A-G c.13361T>C p.V4454A Missense 6/25 - 1
3-195497130-G-A c.13355C>T p.T4452M Missense 6/25 - 2
3-195497135-C-T c.13350G>A p.K4450= Synonymous 6/25 - 1
3-195497141-G-A c.13344C>T p.A4448= Synonymous 6/25 - 1
3-195497141-G-C c.13344C>G p.A4448= Synonymous 6/25 - 1
3-195497141-G-T c.13344C>A p.A4448= Synonymous 6/25 - 1
3-195497143-C-A c.13342G>T p.A4448S Missense 6/25 - 10
3-195497143-C-T c.13342G>A p.A4448T Missense 6/25 - 22
3-195497150-G-A c.13335C>T p.A4445= Synonymous 6/25 - 1
3-195497151-G-C c.13334C>G p.A4445G Missense 6/25 - 1
3-195497153-C-A c.13332G>T p.K4444N Missense 6/25 - 1
3-195497153-C-G c.13332G>C p.K4444N Missense 6/25 - 1
3-195497160-C-T c.13325G>A p.G4442D Missense 6/25 - 1
3-195497164-C-A c.13321G>T p.G4441W Missense 6/25 - 1
3-195497164-C-G c.13321G>C p.G4441R Missense 6/25 - 1
3-195497164-C-T c.13321G>A p.G4441R Missense 6/25 - 2
3-195497165-G-A c.13320C>T p.N4440= Synonymous 6/25 - 1
3-195497172-G-A c.13313C>T p.T4438I Missense 6/25 - 1
3-195497174-C-A c.13311G>T p.M4437I Missense 6/25 - 16
3-195497174-C-G c.13311G>C p.M4437I Missense 6/25 - 28
3-195497174-C-T c.13311G>A p.M4437I Missense 6/25 - 4
3-195497178-T-C c.13307A>G p.K4436R Missense 6/25 - 1
3-195497180-T-A c.13305A>T p.R4435S Missense 6/25 - 1
3-195497180-T-G c.13305A>C p.R4435S Missense 6/25 - 1
3-195497192-C-A c.13293G>T p.E4431D Missense 6/25 - 1
3-195497192-C-G c.13293G>C p.E4431D Missense 6/25 - 1
3-195497194-C-T c.13291G>A p.E4431K Missense 6/25 - 5
3-195497195-G-A c.13290C>T p.A4430= Synonymous 6/25 - 2
3-195497195-G-C c.13290C>G p.A4430= Synonymous 6/25 - 1
3-195497195-G-T c.13290C>A p.A4430= Synonymous 6/25 - 1
3-195497224-C-T c.13261G>A p.G4421S Missense 6/25 - 1
3-195497226-T-C c.13259A>G p.Y4420C Missense 6/25 - 2
3-195497232-G-A c.13253C>T p.T4418M Missense 6/25 - 1
3-195497236-C-T c.13249G>A p.E4417K Missense 6/25 - 1
3-195497743-T-C c.13243-501A>G - IntronicSNV - 5/24 4
3-195497809-T-C c.13243-567A>G - IntronicSNV - 5/24 3
3-195497949-T-C c.13242+574A>G - IntronicSNV - 5/24 1
3-195497981-T-C c.13242+542A>G - IntronicSNV - 5/24 1
3-195498480-C-T c.13242+43G>A - IntronicSNV - 5/24 1
3-195498517-G-A c.13242+6C>T - IntronicSNV - 5/24 1
3-195498522-C-T c.13242+1G>A - IntronicSNV - 5/24 1
3-195498539-C-T c.13226G>A p.G4409E Missense 5/25 - 2
3-195498542-C-T c.13223G>A p.R4408Q Missense 5/25 - 5
3-195498541-C-A c.13224G>T p.R4408= Synonymous 5/25 - 2
3-195498541-C-G c.13224G>C p.R4408= Synonymous 5/25 - 2
3-195498541-C-T c.13224G>A p.R4408= Synonymous 5/25 - 2
3-195498543-G-T c.13222C>A p.R4408= Synonymous 5/25 - 2
3-195498546-C-A c.13219G>T p.G4407C Missense 5/25 - 1
3-195498553-G-A c.13212C>T p.F4404= Synonymous 5/25 - 2
3-195498553-G-C c.13212C>G p.F4404L Missense 5/25 - 1
3-195498553-G-T c.13212C>A p.F4404L Missense 5/25 - 1
3-195498555-A-G c.13210T>C p.F4404L Missense 5/25 - 1
3-195498564-C-T c.13201G>A p.D4401N Missense 5/25 - 2
3-195498565-G-A c.13200C>T p.D4400= Synonymous 5/25 - 1
3-195498567-C-T c.13198G>A p.D4400N Missense 5/25 - 2
3-195498576-G-A c.13189C>T p.P4397S Missense 5/25 - 1
3-195498584-A-T c.13181T>A p.L4394Q Missense 5/25 - 1
3-195498591-C-T c.13174G>A p.V4392M Missense 5/25 - 1
3-195498594-G-A c.13171C>T p.P4391S Missense 5/25 - 1
3-195498599-C-T c.13166G>A p.R4389Q Missense 5/25 - 1
3-195498600-G-A c.13165C>T p.R4389W Missense 5/25 - 1
3-195498603-C-T c.13162G>A p.G4388S Missense 5/25 - 1
3-195498607-G-C c.13158C>G p.F4386L Missense 5/25 - 1
3-195498607-G-T c.13158C>A p.F4386L Missense 5/25 - 1
3-195498609-A-G c.13156T>C p.F4386L Missense 5/25 - 2
3-195498610-G-A c.13155C>T p.G4385= Synonymous 5/25 - 1
3-195498617-G-A c.13148C>T p.P4383L Missense 5/25 - 1
3-195498624-G-A c.13141C>T p.P4381S Missense 5/25 - 1
3-195498625-G-C c.13140C>G p.N4380K Missense 5/25 - 1
3-195498625-G-T c.13140C>A p.N4380K Missense 5/25 - 1
3-195498633-A-G c.13132T>C p.Y4378H Missense 5/25 - 2
3-195498634-G-A c.13131C>T p.S4377= Synonymous 5/25 - 1
3-195498634-G-C c.13131C>G p.S4377= Synonymous 5/25 - 1
3-195498634-G-T c.13131C>A p.S4377= Synonymous 5/25 - 1
3-195498637-G-A c.13128C>T p.F4376= Synonymous 5/25 - 1
3-195498637-G-T c.13128C>A p.F4376L Missense 5/25 - 3
3-195498637-G-C c.13128C>G p.F4376L Missense 5/25 - 2
3-195498639-A-G c.13126T>C p.F4376L Missense 5/25 - 2
3-195498640-A-G c.13125T>C p.I4375= Synonymous 5/25 - 1
3-195498643-C-T c.13122G>A p.Q4374= Synonymous 5/25 - 1
3-195498653-G-C c.13112C>G p.S4371* Nonsense 5/25 - 2
3-195498653-G-T c.13112C>A p.S4371* Nonsense 5/25 - 1
3-195498655-C-T c.13110G>A p.E4370= Synonymous 5/25 - 1
3-195498664-G-A c.13101C>T p.I4367= Synonymous 5/25 - 1
3-195498664-G-T c.13101C>A p.I4367= Synonymous 5/25 - 1
3-195498665-A-G c.13100T>C p.I4367T Missense 5/25 - 4
3-195498674-C-T c.13091G>A p.G4364D Missense 5/25 - 2
3-195498678-T-C c.13087A>G p.N4363D Missense 5/25 - 1
3-195498684-T-G c.13081A>C p.T4361P Missense 5/25 - 1
3-195498859-T-A c.13078-172A>T - IntronicSNV - 4/24 2
3-195498859-T-C c.13078-172A>G - IntronicSNV - 4/24 2
3-195499251-T-C c.13078-564A>G - IntronicSNV - 4/24 1
3-195499311-C-T c.13078-624G>A - IntronicSNV - 4/24 1
3-195499511-A-C c.13078-824T>G - IntronicSNV - 4/24 1
3-195499920-T-C c.13077+1123A>G - IntronicSNV - 4/24 1
3-195500116-T-C c.13077+927A>G - IntronicSNV - 4/24 1
3-195501035-G-A c.13077+8C>T - IntronicSNV - 4/24 1
3-195501046-G-A c.13074C>T p.L4358= Synonymous 4/25 - 2
3-195501049-G-A c.13071C>T p.S4357= Synonymous 4/25 - 1
3-195501050-G-A c.13070C>T p.S4357F Missense 4/25 - 4
3-195501054-C-A c.13066G>T p.D4356Y Missense 4/25 - 1
3-195501056-C-T c.13064G>A p.R4355H Missense 4/25 - 1
3-195501057-G-A c.13063C>T p.R4355C Missense 4/25 - 1
3-195501062-G-C c.13058C>G p.S4353C Missense 4/25 - 1
3-195501064-G-A c.13056C>T p.S4352= Synonymous 4/25 - 1
3-195501065-G-A c.13055C>T p.S4352F Missense 4/25 - 1
3-195501071-A-G c.13049T>C p.L4350P Missense 4/25 - 2
3-195501073-G-A c.13047C>T p.P4349= Synonymous 4/25 - 2
3-195501073-G-C c.13047C>G p.P4349= Synonymous 4/25 - 1
3-195501073-G-T c.13047C>A p.P4349= Synonymous 4/25 - 1
3-195501074-G-C c.13046C>G p.P4349R Missense 4/25 - 1
3-195501076-G-A c.13044C>T p.F4348= Synonymous 4/25 - 3
3-195501076-G-C c.13044C>G p.F4348L Missense 4/25 - 2
3-195501076-G-T c.13044C>A p.F4348L Missense 4/25 - 1
3-195501078-A-G c.13042T>C p.F4348L Missense 4/25 - 1
3-195501079-G-A c.13041C>T p.G4347= Synonymous 4/25 - 1
3-195501079-G-C c.13041C>G p.G4347= Synonymous 4/25 - 1
3-195501079-G-T c.13041C>A p.G4347= Synonymous 4/25 - 1
3-195501081-C-G c.13039G>C p.G4347R Missense 4/25 - 1
3-195501085-C-A c.13035G>T p.A4345= Synonymous 4/25 - 1
3-195501085-C-G c.13035G>C p.A4345= Synonymous 4/25 - 1
3-195501085-C-T c.13035G>A p.A4345= Synonymous 4/25 - 1
3-195501086-G-A c.13034C>T p.A4345V Missense 4/25 - 1
3-195501087-C-A c.13033G>T p.A4345S Missense 4/25 - 1
3-195501088-C-A c.13032G>T p.P4344= Synonymous 4/25 - 1
3-195501088-C-G c.13032G>C p.P4344= Synonymous 4/25 - 1
3-195501088-C-T c.13032G>A p.P4344= Synonymous 4/25 - 3
3-195501089-G-T c.13031C>A p.P4344Q Missense 4/25 - 1
3-195501092-T-C c.13028A>G p.K4343R Missense 4/25 - 1
3-195501095-A-C c.13025T>G p.F4342C Missense 4/25 - 1
3-195501097-G-A c.13023C>T p.L4341= Synonymous 4/25 - 2
3-195501097-G-C c.13023C>G p.L4341= Synonymous 4/25 - 2
3-195501097-G-T c.13023C>A p.L4341= Synonymous 4/25 - 2
3-195501112-G-A c.13008C>T p.D4336= Synonymous 4/25 - 1
3-195501114-C-T c.13006G>A p.D4336N Missense 4/25 - 1
3-195501115-C-T c.13005G>A p.V4335= Synonymous 4/25 - 2
3-195501118-G-A c.13002C>T p.T4334= Synonymous 4/25 - 1
3-195501118-G-C c.13002C>G p.T4334= Synonymous 4/25 - 1
3-195501118-G-T c.13002C>A p.T4334= Synonymous 4/25 - 1
3-195501120-TC-T c.12999del p.T4334Pfs*93 Frameshift 4/25 - 4
3-195501130-G-A c.12990C>T p.F4330= Synonymous 4/25 - 3
3-195501143-C-T c.12977G>A p.G4326E Missense 4/25 - 2
3-195501144-C-G c.12976G>C p.G4326R Missense 4/25 - 1
3-195501144-C-T c.12976G>A p.G4326R Missense 4/25 - 2
3-195501145-G-A c.12975C>T p.A4325= Synonymous 4/25 - 2
3-195501145-G-C c.12975C>G p.A4325= Synonymous 4/25 - 1
3-195501145-G-T c.12975C>A p.A4325= Synonymous 4/25 - 1
3-195501147-C-A c.12973G>T p.A4325S Missense 4/25 - 3
3-195501148-G-A c.12972C>T p.G4324= Synonymous 4/25 - 3
3-195501148-G-C c.12972C>G p.G4324= Synonymous 4/25 - 3
3-195501148-G-GT c.12971_12972insA p.A4325Rfs*32 Frameshift 4/25 - 1
3-195501148-G-T c.12972C>A p.G4324= Synonymous 4/25 - 3
3-195501149-C-T c.12971G>A p.G4324D Missense 4/25 - 34
3-195501153-C-T c.12967G>A p.A4323T Missense 4/25 - 1
3-195501159-A-C c.12961T>G p.Y4321D Missense 4/25 - 1
3-195501161-G-A c.12959C>T p.P4320L Missense 4/25 - 1
3-195501162-G-A c.12958C>T p.P4320S Missense 4/25 - 2
3-195501172-A-C c.12948T>G p.V4316= Synonymous 4/25 - 1
3-195501172-A-G c.12948T>C p.V4316= Synonymous 4/25 - 1
3-195501172-A-T c.12948T>A p.V4316= Synonymous 4/25 - 1
3-195501258-T-C c.12944-82A>G - IntronicSNV - 3/24 6
3-195501258-T-G c.12944-82A>C - IntronicSNV - 3/24 6
3-195501938-T-G c.12944-762A>C - IntronicSNV - 3/24 1
3-195502416-T-C c.12944-1240A>G - IntronicSNV - 3/24 1
3-195504987-C-G c.12943+187G>C - IntronicSNV - 3/24 1
3-195505072-C-T c.12943+102G>A - IntronicSNV - 3/24 2
3-195505091-G-A c.12943+83C>T - IntronicSNV - 3/24 3
3-195505172-AC-A c.12943+1del - Frameshift 3/25 - 1
3-195505180-C-A c.12937G>T p.E4313* Nonsense 3/25 - 2
3-195505182-G-T c.12935C>A p.P4312H Missense 3/25 - 1
3-195505183-G-C c.12934C>G p.P4312A Missense 3/25 - 1
3-195505187-G-A c.12930C>T p.I4310= Synonymous 3/25 - 1
3-195505187-G-T c.12930C>A p.I4310= Synonymous 3/25 - 1
3-195505192-G-T c.12925C>A p.P4309T Missense 3/25 - 1
3-195505193-G-A c.12924C>T p.I4308= Synonymous 3/25 - 1
3-195505195-TG-T c.12921del p.I4308Sfs*119 Frameshift 3/25 - 1
3-195505200-G-A c.12917C>T p.A4306V Missense 3/25 - 1
3-195505201-C-T c.12916G>A p.A4306T Missense 3/25 - 1
3-195505213-G-A c.12904C>T p.R4302C Missense 3/25 - 1
3-195505213-G-C c.12904C>G p.R4302G Missense 3/25 - 1
3-195505221-A-G c.12896T>C p.M4299T Missense 3/25 - 1
3-195505223-G-A c.12894C>T p.A4298= Synonymous 3/25 - 1
3-195505229-G-A c.12888C>T p.S4296= Synonymous 3/25 - 1
3-195505242-G-A c.12875C>T p.S4292F Missense 3/25 - 1
3-195505247-G-A c.12870C>T p.I4290= Synonymous 3/25 - 4
3-195505247-G-T c.12870C>A p.I4290= Synonymous 3/25 - 4
3-195505250-G-A c.12867C>T p.T4289= Synonymous 3/25 - 1
3-195505254-T-A c.12863A>T p.Q4288L Missense 3/25 - 1
3-195505256-G-A c.12861C>T p.S4287= Synonymous 3/25 - 2
3-195505257-G-A c.12860C>T p.S4287F Missense 3/25 - 1
3-195505259-G-A c.12858C>T p.T4286= Synonymous 3/25 - 1
3-195505266-G-A c.12851C>T p.P4284L Missense 3/25 - 1
3-195505268-G-C c.12849C>G p.P4283= Synonymous 3/25 - 1
3-195505264-TG-T c.12852del p.T4285Qfs*142 Frameshift 3/25 - 3
3-195505281-G-A c.12836C>T p.A4279V Missense 3/25 - 1
3-195505282-C-T c.12835G>A p.A4279T Missense 3/25 - 1
3-195505288-G-A c.12829C>T p.R4277C Missense 3/25 - 1
3-195505290-C-T c.12827G>A p.R4276K Missense 3/25 - 1
3-195505292-C-A c.12825G>T p.G4275= Synonymous 3/25 - 1
3-195505292-C-G c.12825G>C p.G4275= Synonymous 3/25 - 1
3-195505292-C-T c.12825G>A p.G4275= Synonymous 3/25 - 1
3-195505314-G-A c.12803C>T p.P4268L Missense 3/25 - 4
3-195505314-G-C c.12803C>G p.P4268R Missense 3/25 - 2
3-195505314-G-T c.12803C>A p.P4268Q Missense 3/25 - 1
3-195505417-G-A c.12791-91C>T - IntronicSNV - 2/24 6
3-195505662-T-A c.12789A>T p.P4263= Synonymous 2/25 - 1
3-195505662-T-C c.12789A>G p.P4263= Synonymous 2/25 - 1
3-195505662-T-G c.12789A>C p.P4263= Synonymous 2/25 - 1
3-195505664-G-A c.12787C>T p.P4263S Missense 2/25 - 27
3-195505664-G-C c.12787C>G p.P4263A Missense 2/25 - 6
3-195505664-G-T c.12787C>A p.P4263T Missense 2/25 - 6
3-195505667-T-G c.12784A>C p.T4262P Missense 2/25 - 1
3-195505673-T-A c.12778A>T p.M4260L Missense 2/25 - 1
3-195505677-C-A c.12774G>T p.L4258= Synonymous 2/25 - 1
3-195505677-C-G c.12774G>C p.L4258= Synonymous 2/25 - 1
3-195505677-C-T c.12774G>A p.L4258= Synonymous 2/25 - 1
3-195505677-TC-T c.12774del p.K4259Rfs*7 Frameshift 2/25 - 1
3-195505679-G-A c.12772C>T p.L4258= Synonymous 2/25 - 1
3-195505679-G-C c.12772C>G p.L4258V Missense 2/25 - 1
3-195505681-G-A c.12770C>T p.P4257L Missense 2/25 - 1
3-195505683-G-A c.12768C>T p.S4256= Synonymous 2/25 - 2
3-195505686-G-C c.12765C>G p.D4255E Missense 2/25 - 1
3-195505686-G-T c.12765C>A p.D4255E Missense 2/25 - 1
3-195505687-T-A c.12764A>T p.D4255V Missense 2/25 - 1
3-195505688-C-A c.12763G>T p.D4255Y Missense 2/25 - 1
3-195505689-C-T c.12762G>A p.S4254= Synonymous 2/25 - 3
3-195505692-G-A c.12759C>T p.S4253= Synonymous 2/25 - 1
3-195505692-G-C c.12759C>G p.S4253= Synonymous 2/25 - 1
3-195505692-G-T c.12759C>A p.S4253= Synonymous 2/25 - 2
3-195505699-G-T c.12752C>A p.T4251K Missense 2/25 - 1
3-195505702-G-A c.12749C>T p.S4250F Missense 2/25 - 2
3-195505704-A-G c.12747T>C p.A4249= Synonymous 2/25 - 1
3-195505704-A-T c.12747T>A p.A4249= Synonymous 2/25 - 1
3-195505706-C-T c.12745G>A p.A4249T Missense 2/25 - 1
3-195505708-G-A c.12743C>T p.S4248L Missense 2/25 - 1
3-195505711-G-T c.12740C>A p.T4247N Missense 2/25 - 1
3-195505712-T-C c.12739A>G p.T4247A Missense 2/25 - 3
3-195505713-A-C c.12738T>G p.A4246= Synonymous 2/25 - 1
3-195505713-A-G c.12738T>C p.A4246= Synonymous 2/25 - 1
3-195505713-A-T c.12738T>A p.A4246= Synonymous 2/25 - 1
3-195505714-G-C c.12737C>G p.A4246G Missense 2/25 - 1
3-195505719-G-A c.12732C>T p.S4244= Synonymous 2/25 - 2
3-195505727-C-G c.12724G>C p.A4242P Missense 2/25 - 2
3-195505730-G-C c.12721C>G p.L4241V Missense 2/25 - 1
3-195505730-G-T c.12721C>A p.L4241I Missense 2/25 - 1
3-195505739-C-A c.12712G>T p.A4238S Missense 2/25 - 1
3-195505739-C-T c.12712G>A p.A4238T Missense 2/25 - 4
3-195505740-G-A c.12711C>T p.H4237= Synonymous 2/25 - 1
3-195505740-G-C c.12711C>G p.H4237Q Missense 2/25 - 2
3-195505740-G-T c.12711C>A p.H4237Q Missense 2/25 - 2
3-195505742-G-C c.12709C>G p.H4237D Missense 2/25 - 5
3-195505745-C-T c.12706G>A p.G4236S Missense 2/25 - 1
3-195505746-T-A c.12705A>T p.T4235= Synonymous 2/25 - 1
3-195505746-T-C c.12705A>G p.T4235= Synonymous 2/25 - 1
3-195505746-T-G c.12705A>C p.T4235= Synonymous 2/25 - 2
3-195505750-G-A c.12701C>T p.S4234F Missense 2/25 - 3
3-195505753-A-G c.12698T>C p.V4233A Missense 2/25 - 6
3-195505756-G-C c.12695C>G p.S4232* Nonsense 2/25 - 1
3-195505756-G-T c.12695C>A p.S4232* Nonsense 2/25 - 1
3-195505759-G-A c.12692C>T p.S4231F Missense 2/25 - 3
3-195505762-A-G c.12689T>C p.L4230P Missense 2/25 - 9
3-195505762-A-T c.12689T>A p.L4230H Missense 2/25 - 1
3-195505763-G-A c.12688C>T p.L4230F Missense 2/25 - 10
3-195505765-CT-AA c.12685_12686delinsTT p.S4229F Missense 2/25 - 1
3-195505766-T-C c.12685A>G p.S4229G Missense 2/25 - 6
3-195505766-T-TC c.12684_12685insG p.S4229Efs*85 Frameshift 2/25 - 1
3-195505772-C-G c.12679G>C p.V4227L Missense 2/25 - 7
3-195505774-G-A c.12677C>T p.P4226L Missense 2/25 - 1
3-195505774-G-T c.12677C>A p.P4226H Missense 2/25 - 13
3-195505775-G-A c.12676C>T p.P4226S Missense 2/25 - 4
3-195505775-G-T c.12676C>A p.P4226T Missense 2/25 - 1
3-195505780-G-A c.12671C>T p.P4224L Missense 2/25 - 3
3-195505781-G-A c.12670C>T p.P4224S Missense 2/25 - 7
3-195505781-G-T c.12670C>A p.P4224T Missense 2/25 - 1
3-195505782-G-C c.12669C>G p.T4223= Synonymous 2/25 - 1
3-195505786-G-A c.12665C>T p.A4222V Missense 2/25 - 1
3-195505786-G-T c.12665C>A p.A4222D Missense 2/25 - 1
3-195505787-C-T c.12664G>A p.A4222T Missense 2/25 - 9
3-195505788-CGTGA-C c.12660_12663del p.H4221Pfs*37 Frameshift 2/25 - 1
3-195505788-G-A c.12663C>T p.H4221= Synonymous 2/25 - 5
3-195505788-G-C c.12663C>G p.H4221Q Missense 2/25 - 22
3-195505788-G-T c.12663C>A p.H4221Q Missense 2/25 - 5
3-195505790-G-C c.12661C>G p.H4221D Missense 2/25 - 6
3-195505791-A-T c.12660T>A p.G4220= Synonymous 2/25 - 1
3-195505793-CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG-C c.12615_12658del p.H4205Qfs*94 Frameshift 2/25 - 1
3-195505794-T-A c.12657A>T p.T4219= Synonymous 2/25 - 1
3-195505794-T-C c.12657A>G p.T4219= Synonymous 2/25 - 1
3-195505794-T-G c.12657A>C p.T4219= Synonymous 2/25 - 2
3-195505795-G-A c.12656C>T p.T4219I Missense 2/25 - 1
3-195505801-G-A c.12650C>T p.A4217V Missense 2/25 - 14
3-195505801-G-T c.12650C>A p.A4217E Missense 2/25 - 14
3-195505802-C-A c.12649G>T p.A4217S Missense 2/25 - 4
3-195505802-C-T c.12649G>A p.A4217T Missense 2/25 - 1
3-195505803-T-A c.12648A>T p.S4216= Synonymous 2/25 - 1
3-195505803-T-C c.12648A>G p.S4216= Synonymous 2/25 - 1
3-195505803-T-G c.12648A>C p.S4216= Synonymous 2/25 - 1
3-195505807-G-A c.12644C>T p.S4215F Missense 2/25 - 1
3-195505807-G-T c.12644C>A p.S4215Y Missense 2/25 - 1
3-195505811-T-C c.12640A>G p.T4214A Missense 2/25 - 2
3-195505811-T-G c.12640A>C p.T4214P Missense 2/25 - 1
3-195505812-G-A c.12639C>T p.D4213= Synonymous 2/25 - 1
3-195505813-T-C c.12638A>G p.D4213G Missense 2/25 - 4
3-195505813-TC-CT c.12637_12638delinsAG p.D4213S Missense 2/25 - 1
3-195505814-C-T c.12637G>A p.D4213N Missense 2/25 - 8
3-195505815-CGGTGA-C c.12632_12636del p.V4211Gfs*101 Frameshift 2/25 - 1
3-195505819-A-C c.12632T>G p.V4211G Missense 2/25 - 3
3-195505819-A-T c.12632T>A p.V4211D Missense 2/25 - 6
3-195505820-ACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGG-A c.12573_12631del p.P4192Hfs*102 MultiAAMissense 2/25 - 1
3-195505822-G-A c.12629C>T p.P4210L Missense 2/25 - 4
3-195505822-G-T c.12629C>A p.P4210H Missense 2/25 - 4
3-195505823-G-A c.12628C>T p.P4210S Missense 2/25 - 1
3-195505825-A-C c.12626T>G p.L4209R Missense 2/25 - 2
3-195505826-G-C c.12625C>G p.L4209V Missense 2/25 - 1
3-195505827-A-C c.12624T>G p.P4208= Synonymous 2/25 - 1
3-195505827-A-G c.12624T>C p.P4208= Synonymous 2/25 - 3
3-195505827-A-T c.12624T>A p.P4208= Synonymous 2/25 - 1
3-195505828-G-A c.12623C>T p.P4208L Missense 2/25 - 1
3-195505829-G-A c.12622C>T p.P4208S Missense 2/25 - 9
3-195505829-GGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCA-G c.12564_12622del p.D4189Sfs*105 InFrameDeletion 2/25 - 3
3-195505830-G-A c.12621C>T p.T4207= Synonymous 2/25 - 1
3-195505830-G-C c.12621C>G p.T4207= Synonymous 2/25 - 2
3-195505830-G-T c.12621C>A p.T4207= Synonymous 2/25 - 1
3-195505831-G-T c.12620C>A p.T4207N Missense 2/25 - 1
3-195505833-G-A c.12618C>T p.A4206= Synonymous 2/25 - 2
3-195505833-G-C c.12618C>G p.A4206= Synonymous 2/25 - 1
3-195505833-G-T c.12618C>A p.A4206= Synonymous 2/25 - 1
3-195505833-GGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGT-G c.12559_12617del p.T4187Hfs*107 InFrameDeletion 2/25 - 2
3-195505835-C-T c.12616G>A p.A4206T Missense 2/25 - 15
3-195505835-GC-G c.12616del p.A4206Pfs*53 Frameshift 2/25 - 1
3-195505836-G-A c.12615C>T p.H4205= Synonymous 2/25 - 3
3-195505836-G-C c.12615C>G p.H4205Q Missense 2/25 - 27
3-195505836-G-T c.12615C>A p.H4205Q Missense 2/25 - 13
3-195505838-G-C c.12613C>G p.H4205D Missense 2/25 - 14
3-195505838-TG-T c.12613del p.H4205Tfs*54 Frameshift 2/25 - 1
3-195505839-A-C c.12612T>G p.G4204= Synonymous 2/25 - 1
3-195505839-A-G c.12612T>C p.G4204= Synonymous 2/25 - 1
3-195505839-A-T c.12612T>A p.G4204= Synonymous 2/25 - 2
3-195505841-C-T c.12610G>A p.G4204S Missense 2/25 - 1
3-195505842-T-G c.12609A>C p.T4203= Synonymous 2/25 - 1
3-195505845-G-A c.12606C>T p.S4202= Synonymous 2/25 - 2
3-195505849-G-A c.12602C>T p.A4201V Missense 2/25 - 9
3-195505849-G-T c.12602C>A p.A4201E Missense 2/25 - 1
3-195505851-T-A c.12600A>T p.S4200= Synonymous 2/25 - 3
3-195505851-T-C c.12600A>G p.S4200= Synonymous 2/25 - 5
3-195505851-T-G c.12600A>C p.S4200= Synonymous 2/25 - 2
3-195505852-G-C c.12599C>G p.S4200* Nonsense 2/25 - 1
3-195505852-G-T c.12599C>A p.S4200* Nonsense 2/25 - 1
3-195505855-G-T c.12596C>A p.S4199Y Missense 2/25 - 11
3-195505858-G-A c.12593C>T p.T4198I Missense 2/25 - 1
3-195505859-T-C c.12592A>G p.T4198A Missense 2/25 - 8
3-195505862-C-T c.12589G>A p.D4197N Missense 2/25 - 2
3-195505863-G-T c.12588C>A p.T4196= Synonymous 2/25 - 1
3-195505864-G-C c.12587C>G p.T4196S Missense 2/25 - 1
3-195505865-T-A c.12586A>T p.T4196S Missense 2/25 - 1
3-195505866-G-A c.12585C>T p.V4195= Synonymous 2/25 - 2
3-195505866-G-C c.12585C>G p.V4195= Synonymous 2/25 - 1
3-195505866-G-T c.12585C>A p.V4195= Synonymous 2/25 - 1
3-195505867-A-T c.12584T>A p.V4195D Missense 2/25 - 13
3-195505870-G-A c.12581C>T p.P4194L Missense 2/25 - 2
3-195505870-G-T c.12581C>A p.P4194H Missense 2/25 - 2
3-195505871-G-T c.12580C>A p.P4194T Missense 2/25 - 1
3-195505872-A-C c.12579T>G p.L4193= Synonymous 2/25 - 1
3-195505874-G-C c.12577C>G p.L4193V Missense 2/25 - 2
3-195505876-G-C c.12575C>G p.P4192R Missense 2/25 - 1
3-195505877-G-A c.12574C>T p.P4192S Missense 2/25 - 2
3-195505877-G-T c.12574C>A p.P4192T Missense 2/25 - 1
3-195505878-G-A c.12573C>T p.T4191= Synonymous 2/25 - 4
3-195505878-G-C c.12573C>G p.T4191= Synonymous 2/25 - 5
3-195505878-G-T c.12573C>A p.T4191= Synonymous 2/25 - 4
3-195505881-G-A c.12570C>T p.T4190= Synonymous 2/25 - 2
3-195505881-G-C c.12570C>G p.T4190= Synonymous 2/25 - 2
3-195505881-G-T c.12570C>A p.T4190= Synonymous 2/25 - 2
3-195505882-G-C c.12569C>G p.T4190S Missense 2/25 - 1
3-195505882-G-GCC c.12568_12569insGG p.T4190Rfs*70 Frameshift 2/25 - 1
3-195505883-T-C c.12568A>G p.T4190A Missense 2/25 - 5
3-195505884-G-A c.12567C>T p.D4189= Synonymous 2/25 - 2
3-195505884-G-C c.12567C>G p.D4189E Missense 2/25 - 1
3-195505885-GTC-G c.12565_12566del p.D4189Hfs*124 Frameshift 2/25 - 1
3-195505886-C-G c.12565G>C p.D4189H Missense 2/25 - 12
3-195505888-C-A c.12563G>T p.G4188V Missense 2/25 - 1
3-195505891-G-C c.12560C>G p.T4187R Missense 2/25 - 1
3-195505892-T-A c.12559A>T p.T4187S Missense 2/25 - 4
3-195505897-G-A c.12554C>T p.A4185V Missense 2/25 - 9
3-195505903-G-T c.12548C>A p.S4183Y Missense 2/25 - 2
3-195505905-A-C c.12546T>G p.T4182= Synonymous 2/25 - 2
3-195505905-A-G c.12546T>C p.T4182= Synonymous 2/25 - 2
3-195505905-A-T c.12546T>A p.T4182= Synonymous 2/25 - 2
3-195505906-G-A c.12545C>T p.T4182I Missense 2/25 - 2
3-195505906-GT-AG c.12544_12545delinsCT p.T4182L Missense 2/25 - 1
3-195505907-T-G c.12544A>C p.T4182P Missense 2/25 - 15
3-195505907-T-TA c.12543_12544insT p.T4182Yfs*8 Frameshift 2/25 - 1
3-195505907-T-TGA c.12543_12544insTC p.T4182Sfs*78 Frameshift 2/25 - 1
3-195505908-G-A c.12543C>T p.S4181= Synonymous 2/25 - 2
3-195505909-C-A c.12542G>T p.S4181I Missense 2/25 - 5
3-195505909-C-T c.12542G>A p.S4181N Missense 2/25 - 5
3-195505909-CT-TC c.12541_12542delinsGA p.S4181D Missense 2/25 - 1
3-195505910-T-C c.12541A>G p.S4181G Missense 2/25 - 5
3-195505913-T-C c.12538A>G p.T4180A Missense 2/25 - 1
3-195505916-C-G c.12535G>C p.V4179L Missense 2/25 - 1
3-195505918-G-T c.12533C>A p.P4178H Missense 2/25 - 3
3-195505922-G-C c.12529C>G p.L4177V Missense 2/25 - 1
3-195505924-G-A c.12527C>T p.P4176L Missense 2/25 - 2
3-195505925-G-A c.12526C>T p.P4176S Missense 2/25 - 7
3-195505925-G-C c.12526C>G p.P4176A Missense 2/25 - 1
3-195505925-GGGT-G c.12523_12525del p.T4175del InFrameDeletion 2/25 - 1
3-195505929-G-A c.12522C>T p.G4174= Synonymous 2/25 - 1
3-195505929-G-C c.12522C>G p.G4174= Synonymous 2/25 - 1
3-195505929-G-T c.12522C>A p.G4174= Synonymous 2/25 - 1
3-195505930-C-A c.12521G>T p.G4174V Missense 2/25 - 1
3-195505930-CC-GT c.12520_12521delinsAC p.G4174T Missense 2/25 - 1
3-195505930-C-G c.12521G>C p.G4174A Missense 2/25 - 12
3-195505930-C-T c.12521G>A p.G4174D Missense 2/25 - 1
3-195505930-GCC-G c.12520_12521del p.G4174Hfs*15 Frameshift 2/25 - 2
3-195505930-GCCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGTGTGACCTGA-G c.12463_12521del p.S4155Hfs*15 InFrameDeletion 2/25 - 1
3-195505931-C-T c.12520G>A p.G4174S Missense 2/25 - 1
3-195505932-G-C c.12519C>G p.H4173Q Missense 2/25 - 4
3-195505932-G-T c.12519C>A p.H4173Q Missense 2/25 - 2
3-195505934-G-GTC c.12516_12517insGA p.H4173Dfs*87 Frameshift 2/25 - 1
3-195505935-A-C c.12516T>G p.G4172= Synonymous 2/25 - 1
3-195505935-A-T c.12516T>A p.G4172= Synonymous 2/25 - 1
3-195505941-G-A c.12510C>T p.S4170= Synonymous 2/25 - 1
3-195505944-ACAC-A c.12505_12507del p.V4169del InFrameDeletion 2/25 - 1
3-195505944-C-A c.12507G>T p.V4169= Synonymous 2/25 - 6
3-195505944-C-G c.12507G>C p.V4169= Synonymous 2/25 - 6
3-195505944-C-T c.12507G>A p.V4169= Synonymous 2/25 - 8
3-195505945-A-G c.12506T>C p.V4169A Missense 2/25 - 10
3-195505946-C-A c.12505G>T p.V4169L Missense 2/25 - 1
3-195505949-A-C c.12502T>G p.S4168A Missense 2/25 - 2
3-195505953-A-C c.12498T>G p.A4166= Synonymous 2/25 - 2
3-195505953-A-G c.12498T>C p.A4166= Synonymous 2/25 - 2
3-195505953-A-T c.12498T>A p.A4166= Synonymous 2/25 - 2
3-195505955-C-G c.12496G>C p.A4166P Missense 2/25 - 1
3-195505955-C-T c.12496G>A p.A4166T Missense 2/25 - 17
3-195505960-G-A c.12491C>T p.T4164I Missense 2/25 - 3
3-195505960-G-C c.12491C>G p.T4164S Missense 2/25 - 14
3-195505961-T-A c.12490A>T p.T4164S Missense 2/25 - 2
3-195505966-G-A c.12485C>T p.P4162L Missense 2/25 - 1
3-195505967-G-C c.12484C>G p.P4162A Missense 2/25 - 2
3-195505970-G-C c.12481C>G p.L4161V Missense 2/25 - 1
3-195505971-A-C c.12480T>G p.S4160= Synonymous 2/25 - 2
3-195505971-A-G c.12480T>C p.S4160= Synonymous 2/25 - 2
3-195505971-A-T c.12480T>A p.S4160= Synonymous 2/25 - 2
3-195505972-G-A c.12479C>T p.S4160F Missense 2/25 - 2
3-195505972-G-C c.12479C>G p.S4160C Missense 2/25 - 1
3-195505958-CGGTGACAGGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGAT-C c.12445_12492del p.I4149_T4164del InFrameDeletion 2/25 - 1
3-195505973-A-G c.12478T>C p.S4160P Missense 2/25 - 5
3-195505974-G-A c.12477C>T p.T4159= Synonymous 2/25 - 1
3-195505977-G-A c.12474C>T p.T4158= Synonymous 2/25 - 1
3-195505979-T-C c.12472A>G p.T4158A Missense 2/25 - 3
3-195505984-C-A c.12467G>T p.G4156V Missense 2/25 - 2
3-195505984-C-T c.12467G>A p.G4156D Missense 2/25 - 1
3-195505987-G-A c.12464C>T p.S4155L Missense 2/25 - 1
3-195505988-A-T c.12463T>A p.S4155T Missense 2/25 - 1
3-195505993-G-T c.12458C>A p.A4153E Missense 2/25 - 1
3-195505997-A-T c.12454T>A p.S4152T Missense 2/25 - 1
3-195505999-G-A c.12452C>T p.S4151F Missense 2/25 - 1
3-195506002-G-A c.12449C>T p.P4150L Missense 2/25 - 2
3-195506003-G-T c.12448C>A p.P4150T Missense 2/25 - 1
3-195506004-G-A c.12447C>T p.I4149= Synonymous 2/25 - 2
3-195506004-G-T c.12447C>A p.I4149= Synonymous 2/25 - 2
3-195506005-A-C c.12446T>G p.I4149S Missense 2/25 - 12
3-195506005-A-T c.12446T>A p.I4149N Missense 2/25 - 1
3-195506007-G-A c.12444C>T p.T4148= Synonymous 2/25 - 6
3-195506007-G-C c.12444C>G p.T4148= Synonymous 2/25 - 2
3-195506007-G-T c.12444C>A p.T4148= Synonymous 2/25 - 2
3-195506008-G-C c.12443C>G p.T4148S Missense 2/25 - 1
3-195506015-G-C c.12436C>G p.P4146A Missense 2/25 - 1
3-195506018-G-C c.12433C>G p.L4145V Missense 2/25 - 4
3-195506021-G-T c.12430C>A p.P4144T Missense 2/25 - 1
3-195506022-C-A c.12429G>T p.T4143= Synonymous 2/25 - 4
3-195506022-C-G c.12429G>C p.T4143= Synonymous 2/25 - 5
3-195506022-C-T c.12429G>A p.T4143= Synonymous 2/25 - 4
3-195506023-G-A c.12428C>T p.T4143M Missense 2/25 - 1
3-195506027-T-C c.12424A>G p.T4142A Missense 2/25 - 1
3-195506030-C-G c.12421G>C p.D4141H Missense 2/25 - 1
3-195506035-G-A c.12416C>T p.T4139I Missense 2/25 - 2
3-195506036-T-A c.12415A>T p.T4139S Missense 2/25 - 1
3-195506037-G-A c.12414C>T p.S4138= Synonymous 2/25 - 12
3-195506037-G-C c.12414C>G p.S4138= Synonymous 2/25 - 9
3-195506037-G-T c.12414C>A p.S4138= Synonymous 2/25 - 14
3-195506041-A-G c.12410T>C p.V4137A Missense 2/25 - 1
3-195506042-C-CT c.12408dup p.V4137Sfs*5 Frameshift 2/25 - 1
3-195506044-G-A c.12407C>T p.S4136L Missense 2/25 - 1
3-195506050-A-G c.12401T>C p.L4134P Missense 2/25 - 1
3-195506051-G-A c.12400C>T p.L4134F Missense 2/25 - 2
3-195506051-G-C c.12400C>G p.L4134V Missense 2/25 - 1
3-195506051-G-T c.12400C>A p.L4134I Missense 2/25 - 1
3-195506053-C-T c.12398G>A p.S4133N Missense 2/25 - 1
3-195506060-ACAGGAAGAGGGGTGGCCTGACCTGTGGATGCAGAGGAAGTGTCGGTGACAGGAAGAGGC-A c.12333_12391del p.P4112Hfs*10 InFrameDeletion 2/25 - 2
3-195506060-C-G c.12391G>C p.V4131L Missense 2/25 - 8
3-195506062-G-T c.12389C>A p.P4130H Missense 2/25 - 1
3-195506070-G-C c.12381C>G p.T4127= Synonymous 2/25 - 1
3-195506071-G-T c.12380C>A p.T4127N Missense 2/25 - 1
3-195506072-T-C c.12379A>G p.T4127A Missense 2/25 - 1
3-195506076-C-A c.12375G>T p.Q4125H Missense 2/25 - 6
3-195506076-C-G c.12375G>C p.Q4125H Missense 2/25 - 10
3-195506076-C-T c.12375G>A p.Q4125= Synonymous 2/25 - 1
3-195506081-C-A c.12370G>T p.G4124C Missense 2/25 - 1
3-195506082-T-G c.12369A>C p.T4123= Synonymous 2/25 - 2
3-195506088-T-A c.12363A>T p.A4121= Synonymous 2/25 - 1
3-195506088-T-C c.12363A>G p.A4121= Synonymous 2/25 - 1
3-195506088-T-G c.12363A>C p.A4121= Synonymous 2/25 - 1
3-195506089-G-A c.12362C>T p.A4121V Missense 2/25 - 6
3-195506091-A-C c.12360T>G p.S4120= Synonymous 2/25 - 13
3-195506091-A-G c.12360T>C p.S4120= Synonymous 2/25 - 12
3-195506091-A-T c.12360T>A p.S4120= Synonymous 2/25 - 14
3-195506097-A-C c.12354T>G p.T4118= Synonymous 2/25 - 2
3-195506097-A-G c.12354T>C p.T4118= Synonymous 2/25 - 2
3-195506097-A-T c.12354T>A p.T4118= Synonymous 2/25 - 2
3-195506098-G-A c.12353C>T p.T4118I Missense 2/25 - 1
3-195506099-T-C c.12352A>G p.T4118A Missense 2/25 - 15
3-195506099-T-G c.12352A>C p.T4118P Missense 2/25 - 1
3-195506100-G-T c.12351C>A p.D4117E Missense 2/25 - 1
3-195506101-T-A c.12350A>T p.D4117V Missense 2/25 - 2
3-195506102-C-T c.12349G>A p.D4117N Missense 2/25 - 3
3-195506104-G-C c.12347C>G p.T4116S Missense 2/25 - 1
3-195506117-G-T c.12334C>A p.P4112T Missense 2/25 - 6
3-195506118-C-A c.12333G>T p.T4111= Synonymous 2/25 - 6
3-195506118-C-G c.12333G>C p.T4111= Synonymous 2/25 - 7
3-195506118-C-T c.12333G>A p.T4111= Synonymous 2/25 - 6
3-195506119-G-A c.12332C>T p.T4111M Missense 2/25 - 1
3-195506123-T-C c.12328A>G p.T4110A Missense 2/25 - 1
3-195506128-C-G c.12323G>C p.G4108A Missense 2/25 - 1
3-195506133-G-A c.12318C>T p.S4106= Synonymous 2/25 - 2
3-195506133-G-C c.12318C>G p.S4106= Synonymous 2/25 - 2
3-195506133-G-T c.12318C>A p.S4106= Synonymous 2/25 - 2
3-195506137-A-G c.12314T>C p.V4105A Missense 2/25 - 4
3-195506144-A-T c.12307T>A p.S4103T Missense 2/25 - 1
3-195506146-A-G c.12305T>C p.L4102P Missense 2/25 - 3
3-195506147-G-A c.12304C>T p.L4102F Missense 2/25 - 3
3-195506147-G-C c.12304C>G p.L4102V Missense 2/25 - 1
3-195506152-G-C c.12299C>G p.T4100S Missense 2/25 - 1
3-195506154-G-A c.12297C>T p.L4099= Synonymous 2/25 - 3
3-195506154-G-C c.12297C>G p.L4099= Synonymous 2/25 - 2
3-195506154-G-T c.12297C>A p.L4099= Synonymous 2/25 - 2
3-195506156-G-C c.12295C>G p.L4099V Missense 2/25 - 9
3-195506158-G-T c.12293C>A p.P4098H Missense 2/25 - 1
3-195506159-G-C c.12292C>G p.P4098A Missense 2/25 - 3
3-195506165-G-A c.12286C>T p.P4096S Missense 2/25 - 1
3-195506166-G-C c.12285C>G p.T4095= Synonymous 2/25 - 1
3-195506171-C-T c.12280G>A p.A4094T Missense 2/25 - 3
3-195506172-G-C c.12279C>G p.H4093Q Missense 2/25 - 2
3-195506172-G-T c.12279C>A p.H4093Q Missense 2/25 - 1
3-195506176-C-A c.12275G>T p.G4092V Missense 2/25 - 1
3-195506176-C-G c.12275G>C p.G4092A Missense 2/25 - 1
3-195506177-C-A c.12274G>T p.G4092C Missense 2/25 - 1
3-195506177-C-T c.12274G>A p.G4092S Missense 2/25 - 2
3-195506178-G-A c.12273C>T p.T4091= Synonymous 2/25 - 8
3-195506178-G-C c.12273C>G p.T4091= Synonymous 2/25 - 5
3-195506178-G-T c.12273C>A p.T4091= Synonymous 2/25 - 9
3-195506181-G-T c.12270C>A p.S4090= Synonymous 2/25 - 1
3-195506184-T-A c.12267A>T p.A4089= Synonymous 2/25 - 2
3-195506184-T-C c.12267A>G p.A4089= Synonymous 2/25 - 2
3-195506184-T-G c.12267A>C p.A4089= Synonymous 2/25 - 2
3-195506185-G-A c.12266C>T p.A4089V Missense 2/25 - 8
3-195506185-G-T c.12266C>A p.A4089E Missense 2/25 - 1
3-195506187-T-C c.12264A>G p.S4088= Synonymous 2/25 - 1
3-195506189-A-G c.12262T>C p.S4088P Missense 2/25 - 2
3-195506189-A-T c.12262T>A p.S4088T Missense 2/25 - 1
3-195506191-G-A c.12260C>T p.S4087F Missense 2/25 - 2
3-195506191-G-T c.12260C>A p.S4087Y Missense 2/25 - 1
3-195506193-A-C c.12258T>G p.A4086= Synonymous 2/25 - 1
3-195506193-A-G c.12258T>C p.A4086= Synonymous 2/25 - 1
3-195506193-A-T c.12258T>A p.A4086= Synonymous 2/25 - 1
3-195506192-AAGCATCGGTGACAGGAAG-A c.12241_12258del p.L4081_A4086del InFrameDeletion 2/25 - 1
3-195506195-C-G c.12256G>C p.A4086P Missense 2/25 - 1
3-195506195-C-T c.12256G>A p.A4086T Missense 2/25 - 3
3-195506196-A-G c.12255T>C p.D4085= Synonymous 2/25 - 5
3-195506197-T-C c.12254A>G p.D4085G Missense 2/25 - 5
3-195506203-A-T c.12248T>A p.V4083D Missense 2/25 - 3
3-195506206-G-A c.12245C>T p.P4082L Missense 2/25 - 2
3-195506210-G-A c.12241C>T p.L4081F Missense 2/25 - 3
3-195506210-G-C c.12241C>G p.L4081V Missense 2/25 - 1
3-195506212-G-T c.12239C>A p.T4080N Missense 2/25 - 1
3-195506214-G-A c.12237C>T p.S4079= Synonymous 2/25 - 1
3-195506215-CT-AG c.12235_12236inv p.S4079L Missense 2/25 - 2
3-195506220-G-C c.12231C>G p.D4077E Missense 2/25 - 1
3-195506222-C-G c.12229G>C p.D4077H Missense 2/25 - 1
3-195506225-C-T c.12226G>A p.G4076S Missense 2/25 - 1
3-195506226-T-C c.12225A>G p.R4075= Synonymous 2/25 - 1
3-195506226-T-G c.12225A>C p.R4075S Missense 2/25 - 1
3-195506228-T-G c.12223A>C p.R4075= Synonymous 2/25 - 1
3-195506227-C-G c.12224G>C p.R4075T Missense 2/25 - 9
3-195506230-G-C c.12221C>G p.S4074C Missense 2/25 - 1
3-195506235-T-C c.12216A>G p.S4072= Synonymous 2/25 - 1
3-195506239-G-T c.12212C>A p.S4071Y Missense 2/25 - 1
3-195506242-G-C c.12209C>G p.P4070R Missense 2/25 - 1
3-195506243-G-T c.12208C>A p.P4070T Missense 2/25 - 2
3-195506245-C-A c.12206G>T p.S4069I Missense 2/25 - 9
3-195506251-A-T c.12200T>A p.V4067D Missense 2/25 - 1
3-195506254-T-G c.12197A>C p.H4066P Missense 2/25 - 6
3-195506258-G-C c.12193C>G p.L4065V Missense 2/25 - 2
3-195506258-G-T c.12193C>A p.L4065I Missense 2/25 - 2
3-195506259-A-C c.12192T>G p.P4064= Synonymous 2/25 - 1
3-195506259-A-G c.12192T>C p.P4064= Synonymous 2/25 - 1
3-195506259-A-T c.12192T>A p.P4064= Synonymous 2/25 - 1
3-195506261-G-A c.12190C>T p.P4064S Missense 2/25 - 2
3-195506267-C-T c.12184G>A p.A4062T Missense 2/25 - 9
3-195506271-A-C c.12180T>G p.G4060= Synonymous 2/25 - 1
3-195506271-A-G c.12180T>C p.G4060= Synonymous 2/25 - 1
3-195506271-A-T c.12180T>A p.G4060= Synonymous 2/25 - 7
3-195506273-C-G c.12178G>C p.G4060R Missense 2/25 - 4
3-195506276-T-A c.12175A>T p.T4059S Missense 2/25 - 1
3-195506270-GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC-G c.12133_12180del p.D4045_G4060del InFrameDeletion 2/25 - 3
3-195506281-AA-GC c.12169_12170delinsGC p.L4057A Missense 2/25 - 3
3-195506281-A-C c.12170T>G p.L4057* Nonsense 2/25 - 1
3-195506281-A-G c.12170T>C p.L4057S Missense 2/25 - 6
3-195506280-T-C c.12171A>G p.L4057= Synonymous 2/25 - 1
3-195506282-A-C c.12169T>G p.L4057V Missense 2/25 - 9
3-195506282-A-G c.12169T>C p.L4057= Synonymous 2/25 - 1
3-195506291-C-G c.12160G>C p.A4054P Missense 2/25 - 1
3-195506291-C-T c.12160G>A p.A4054T Missense 2/25 - 4
3-195506291-GCA-G c.12159_12160del p.A4054Ffs*23 Frameshift 2/25 - 1
3-195506292-A-G c.12159T>C p.N4053= Synonymous 2/25 - 4
3-195506293-T-A c.12158A>T p.N4053I Missense 2/25 - 2
3-195506293-T-C c.12158A>G p.N4053S Missense 2/25 - 6
3-195506294-T-C c.12157A>G p.N4053D Missense 2/25 - 2
3-195506301-A-T c.12150T>A p.P4050= Synonymous 2/25 - 1
3-195506302-G-T c.12149C>A p.P4050H Missense 2/25 - 4
3-195506303-G-T c.12148C>A p.P4050T Missense 2/25 - 5
3-195506306-G-A c.12145C>T p.L4049F Missense 2/25 - 1
3-195506306-G-C c.12145C>G p.L4049V Missense 2/25 - 4
3-195506309-G-T c.12142C>A p.P4048T Missense 2/25 - 3
3-195506311-G-C c.12140C>G p.T4047S Missense 2/25 - 2
3-195506312-T-G c.12139A>C p.T4047P Missense 2/25 - 1
3-195506314-G-C c.12137C>G p.T4046S Missense 2/25 - 2
3-195506315-T-A c.12136A>T p.T4046S Missense 2/25 - 3
3-195506315-T-C c.12136A>G p.T4046A Missense 2/25 - 11
3-195506316-G-C c.12135C>G p.D4045E Missense 2/25 - 1
3-195506318-C-G c.12133G>C p.D4045H Missense 2/25 - 11
3-195506323-G-C c.12128C>G p.T4043R Missense 2/25 - 1
3-195506325-G-A c.12126C>T p.S4042= Synonymous 2/25 - 1
3-195506331-T-A c.12120A>T p.S4040= Synonymous 2/25 - 2
3-195506331-T-C c.12120A>G p.S4040= Synonymous 2/25 - 1
3-195506331-T-G c.12120A>C p.S4040= Synonymous 2/25 - 1
3-195506332-G-A c.12119C>T p.S4040L Missense 2/25 - 4
3-195506339-T-A c.12112A>T p.T4038S Missense 2/25 - 1
3-195506339-T-C c.12112A>G p.T4038A Missense 2/25 - 1
3-195506339-T-G c.12112A>C p.T4038P Missense 2/25 - 7
3-195506340-G-A c.12111C>T p.S4037= Synonymous 2/25 - 2
3-195506341-C-A c.12110G>T p.S4037I Missense 2/25 - 1
3-195506341-C-T c.12110G>A p.S4037N Missense 2/25 - 7
3-195506341-CT-TC c.12109_12110delinsGA p.S4037D Missense 2/25 - 1
3-195506342-T-C c.12109A>G p.S4037G Missense 2/25 - 7
3-195506344-G-C c.12107C>G p.T4036S Missense 2/25 - 2
3-195506345-T-A c.12106A>T p.T4036S Missense 2/25 - 1
3-195506348-C-G c.12103G>C p.V4035L Missense 2/25 - 1
3-195506350-G-T c.12101C>A p.P4034H Missense 2/25 - 2
3-195506352-A-C c.12099T>G p.V4033= Synonymous 2/25 - 1
3-195506352-A-G c.12099T>C p.V4033= Synonymous 2/25 - 1
3-195506352-A-T c.12099T>A p.V4033= Synonymous 2/25 - 1
3-195506354-C-G c.12097G>C p.V4033L Missense 2/25 - 10
3-195506357-G-A c.12094C>T p.P4032S Missense 2/25 - 1
3-195506358-G-A c.12093C>T p.T4031= Synonymous 2/25 - 1
3-195506358-G-C c.12093C>G p.T4031= Synonymous 2/25 - 1
3-195506358-G-T c.12093C>A p.T4031= Synonymous 2/25 - 1
3-195506361-G-A c.12090C>T p.A4030= Synonymous 2/25 - 1
3-195506361-G-C c.12090C>G p.A4030= Synonymous 2/25 - 1
3-195506361-G-T c.12090C>A p.A4030= Synonymous 2/25 - 1
3-195506362-G-A c.12089C>T p.A4030V Missense 2/25 - 1
3-195506363-C-T c.12088G>A p.A4030T Missense 2/25 - 4
3-195506364-G-A c.12087C>T p.H4029= Synonymous 2/25 - 2
3-195506364-G-C c.12087C>G p.H4029Q Missense 2/25 - 4
3-195506364-G-T c.12087C>A p.H4029Q Missense 2/25 - 3
3-195506366-G-C c.12085C>G p.H4029D Missense 2/25 - 3
3-195506369-C-T c.12082G>A p.G4028S Missense 2/25 - 1
3-195506370-T-A c.12081A>T p.T4027= Synonymous 2/25 - 5
3-195506370-T-C c.12081A>G p.T4027= Synonymous 2/25 - 5
3-195506370-T-G c.12081A>C p.T4027= Synonymous 2/25 - 6
3-195506372-T-A c.12079A>T p.T4027S Missense 2/25 - 1
3-195506373-G-A c.12078C>T p.S4026= Synonymous 2/25 - 2
3-195506373-G-C c.12078C>G p.S4026= Synonymous 2/25 - 1
3-195506373-G-T c.12078C>A p.S4026= Synonymous 2/25 - 1
3-195506373-GGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTA-G c.12030_12077del p.L4017_P4032del InFrameDeletion 2/25 - 2
3-195506377-G-A c.12074C>T p.A4025V Missense 2/25 - 1
3-195506378-C-A c.12073G>T p.A4025S Missense 2/25 - 2
3-195506378-C-T c.12073G>A p.A4025T Missense 2/25 - 1
3-195506379-T-C c.12072A>G p.S4024= Synonymous 2/25 - 2
3-195506379-T-G c.12072A>C p.S4024= Synonymous 2/25 - 1
3-195506380-G-C c.12071C>G p.S4024* Nonsense 2/25 - 1
3-195506385-A-C c.12066T>G p.P4022= Synonymous 2/25 - 2
3-195506385-A-G c.12066T>C p.P4022= Synonymous 2/25 - 2
3-195506385-A-T c.12066T>A p.P4022= Synonymous 2/25 - 2
3-195506386-AGGGCTGGTGAC-A c.12055_12065del p.V4019Ffs*23 Frameshift 2/25 - 1
3-195506386-G-A c.12065C>T p.P4022L Missense 2/25 - 1
3-195506387-G-T c.12064C>A p.P4022T Missense 2/25 - 12
3-195506389-C-A c.12062G>T p.S4021I Missense 2/25 - 1
3-195506389-C-T c.12062G>A p.S4021N Missense 2/25 - 2
3-195506390-T-C c.12061A>G p.S4021G Missense 2/25 - 1
3-195506391-G-A c.12060C>T p.T4020= Synonymous 2/25 - 2
3-195506391-G-C c.12060C>G p.T4020= Synonymous 2/25 - 1
3-195506391-G-T c.12060C>A p.T4020= Synonymous 2/25 - 1
3-195506397-A-C c.12054T>G p.P4018= Synonymous 2/25 - 1
3-195506397-A-G c.12054T>C p.P4018= Synonymous 2/25 - 1
3-195506397-A-T c.12054T>A p.P4018= Synonymous 2/25 - 1
3-195506398-AGGAAGAGGGG-A c.12044_12053del p.T4015Mfs*241 Frameshift 2/25 - 1
3-195506398-G-T c.12053C>A p.P4018H Missense 2/25 - 8
3-195506399-G-T c.12052C>A p.P4018T Missense 2/25 - 1
3-195506398-GGAAGAGGGGTGGCGTGACCTGTAGATACTGAGGAAGT-G c.12016_12052del p.T4006Lfs*241 Frameshift 2/25 - 1
3-195506402-G-C c.12049C>G p.L4017V Missense 2/25 - 2
3-195506405-G-A c.12046C>T p.P4016S Missense 2/25 - 1
3-195506409-G-A c.12042C>T p.A4014= Synonymous 2/25 - 2
3-195506409-G-C c.12042C>G p.A4014= Synonymous 2/25 - 2
3-195506409-G-T c.12042C>A p.A4014= Synonymous 2/25 - 2
3-195506408-TGGCGTGACCTGTAGATACTGAGGAAGTGCTGGTGACAG-T c.12005_12042del p.P4002Hfs*31 Frameshift 2/25 - 1
3-195506410-G-A c.12041C>T p.A4014V Missense 2/25 - 9
3-195506411-C-T c.12040G>A p.A4014T Missense 2/25 - 4
3-195506412-G-A c.12039C>T p.H4013= Synonymous 2/25 - 1
3-195506412-G-C c.12039C>G p.H4013Q Missense 2/25 - 1
3-195506412-G-T c.12039C>A p.H4013Q Missense 2/25 - 1
3-195506414-G-C c.12037C>G p.H4013D Missense 2/25 - 1
3-195506416-C-G c.12035G>C p.G4012A Missense 2/25 - 1
3-195506421-A-C c.12030T>G p.S4010= Synonymous 2/25 - 7
3-195506421-A-G c.12030T>C p.S4010= Synonymous 2/25 - 10
3-195506421-A-T c.12030T>A p.S4010= Synonymous 2/25 - 7
3-195506422-G-A c.12029C>T p.S4010F Missense 2/25 - 1
3-195506424-T-A c.12027A>T p.V4009= Synonymous 2/25 - 2
3-195506424-T-C c.12027A>G p.V4009= Synonymous 2/25 - 2
3-195506424-T-G c.12027A>C p.V4009= Synonymous 2/25 - 2
3-195506425-A-G c.12026T>C p.V4009A Missense 2/25 - 6
3-195506428-G-T c.12023C>A p.S4008* Nonsense 2/25 - 1
3-195506433-A-C c.12018T>G p.T4006= Synonymous 2/25 - 1
3-195506433-A-G c.12018T>C p.T4006= Synonymous 2/25 - 1
3-195506433-A-T c.12018T>A p.T4006= Synonymous 2/25 - 1
3-195506434-GT-AA c.12016_12017delinsTT p.T4006F Missense 2/25 - 1
3-195506435-T-A c.12016A>T p.T4006S Missense 2/25 - 4
3-195506435-T-G c.12016A>C p.T4006P Missense 2/25 - 8
3-195506436-G-A c.12015C>T p.S4005= Synonymous 2/25 - 1
3-195506437-C-T c.12014G>A p.S4005N Missense 2/25 - 2
3-195506438-T-C c.12013A>G p.S4005G Missense 2/25 - 3
3-195506444-C-G c.12007G>C p.V4003L Missense 2/25 - 1
3-195506446-AGGAAGAGGGGTGGCG-A c.11991_12005del p.A3998_P4002del InFrameDeletion 2/25 - 1
3-195506446-G-T c.12005C>A p.P4002H Missense 2/25 - 6
3-195506447-G-A c.12004C>T p.P4002S Missense 2/25 - 1
3-195506454-G-C c.11997C>G p.T3999= Synonymous 2/25 - 1
3-195506457-G-A c.11994C>T p.A3998= Synonymous 2/25 - 1
3-195506458-G-A c.11993C>T p.A3998V Missense 2/25 - 1
3-195506459-C-T c.11992G>A p.A3998T Missense 2/25 - 2
3-195506460-G-A c.11991C>T p.H3997= Synonymous 2/25 - 1
3-195506460-G-C c.11991C>G p.H3997Q Missense 2/25 - 7
3-195506460-G-T c.11991C>A p.H3997Q Missense 2/25 - 1
3-195506462-G-C c.11989C>G p.H3997D Missense 2/25 - 2
3-195506464-ACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGG-A c.11952_11987del p.L3985_G3996del InFrameDeletion 2/25 - 1
3-195506464-C-A c.11987G>T p.G3996V Missense 2/25 - 1
3-195506466-T-G c.11985A>C p.T3995= Synonymous 2/25 - 1
3-195506472-T-A c.11979A>T p.V3993= Synonymous 2/25 - 3
3-195506472-T-C c.11979A>G p.V3993= Synonymous 2/25 - 3
3-195506472-T-G c.11979A>C p.V3993= Synonymous 2/25 - 2
3-195506471-ATAC-A c.11977_11979del p.V3993del InFrameDeletion 2/25 - 2
3-195506473-A-G c.11978T>C p.V3993A Missense 2/25 - 15
3-195506476-G-C c.11975C>G p.S3992* Nonsense 2/25 - 1
3-195506476-G-T c.11975C>A p.S3992* Nonsense 2/25 - 1
3-195506473-ACTGAGGAAGTGTCGGTGACAGGAAGGGGGGTGGCGTGACCTGTGGATGCTGAGGAACGG-A c.11919_11977del p.R3974Ifs*52 MultiAAMissense 2/25 - 1
3-195506473-A-ACTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATG c.11977_11978insCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG p.S3992_V3993insASTGHATPLHVTSPSS InFrameInsertion 2/25 - 1
3-195506482-G-T c.11969C>A p.T3990N Missense 2/25 - 6
3-195506483-GTGTCGGTGACAGGAAGGGGGGTGGCGTGACCTGTGGATGCTGAGGAAC-G c.11921_11968del p.R3974_T3990delinsP MultiAAMissense 2/25 - 2
3-195506483-T-C c.11968A>G p.T3990A Missense 2/25 - 4
3-195506483-T-G c.11968A>C p.T3990P Missense 2/25 - 4
3-195506484-G-A c.11967C>T p.D3989= Synonymous 2/25 - 1
3-195506484-G-C c.11967C>G p.D3989E Missense 2/25 - 1
3-195506483-TGTCGGTGACAGGAAGGGGGGTGGCGTGACCTGTGGATGCTGAGGAACG-T c.11920_11967del p.R3974_D3989del InFrameDeletion 2/25 - 1
3-195506485-T-A c.11966A>T p.D3989V Missense 2/25 - 1
3-195506485-T-C c.11966A>G p.D3989G Missense 2/25 - 3
3-195506485-TC-CT c.11965_11966delinsAG p.D3989S Missense 2/25 - 1
3-195506486-C-T c.11965G>A p.D3989N Missense 2/25 - 4
3-195506487-G-A c.11964C>T p.T3988= Synonymous 2/25 - 1
3-195506492-C-A c.11959G>T p.V3987F Missense 2/25 - 1
3-195506493-AG-TT c.11957_11958delinsAA p.P3986Q Missense 2/25 - 1
3-195506494-G-T c.11957C>A p.P3986H Missense 2/25 - 4
3-195506495-G-A c.11956C>T p.P3986S Missense 2/25 - 3
3-195506497-AGGGGGGTGGCGTGACCTGTGGATGCT-A c.11928_11953del p.A3977Sfs*60 Frameshift 2/25 - 1
3-195506499-G-A c.11952C>T p.P3984= Synonymous 2/25 - 8
3-195506499-G-C c.11952C>G p.P3984= Synonymous 2/25 - 5
3-195506499-G-T c.11952C>A p.P3984= Synonymous 2/25 - 3
3-195506501-G-A c.11950C>T p.P3984S Missense 2/25 - 5
3-195506501-G-T c.11950C>A p.P3984T Missense 2/25 - 1
3-195506502-G-A c.11949C>T p.T3983= Synonymous 2/25 - 2
3-195506502-G-C c.11949C>G p.T3983= Synonymous 2/25 - 1
3-195506502-G-T c.11949C>A p.T3983= Synonymous 2/25 - 1
3-195506497-AG-A c.11953del p.L3985Ffs*274 Frameshift 2/25 - 2
3-195506507-C-T c.11944G>A p.A3982T Missense 2/25 - 4
3-195506508-G-A c.11943C>T p.H3981= Synonymous 2/25 - 1
3-195506508-G-C c.11943C>G p.H3981Q Missense 2/25 - 1
3-195506508-G-T c.11943C>A p.H3981Q Missense 2/25 - 1
3-195506510-G-A c.11941C>T p.H3981Y Missense 2/25 - 2
3-195506510-G-C c.11941C>G p.H3981D Missense 2/25 - 2
3-195506512-C-T c.11939G>A p.G3980D Missense 2/25 - 1
3-195506514-T-A c.11937A>T p.T3979= Synonymous 2/25 - 1
3-195506514-T-G c.11937A>C p.T3979= Synonymous 2/25 - 3
3-195506516-T-A c.11935A>T p.T3979S Missense 2/25 - 1
3-195506517-G-A c.11934C>T p.S3978= Synonymous 2/25 - 1
3-195506518-G-A c.11933C>T p.S3978F Missense 2/25 - 1
3-195506520-T-A c.11931A>T p.A3977= Synonymous 2/25 - 1
3-195506521-G-A c.11930C>T p.A3977V Missense 2/25 - 5
3-195506521-G-C c.11930C>G p.A3977G Missense 2/25 - 1
3-195506522-C-A c.11929G>T p.A3977S Missense 2/25 - 3
3-195506523-T-C c.11928A>G p.S3976= Synonymous 2/25 - 1
3-195506529-A-AG c.11921_11922insC p.S3975Ffs*71 Frameshift 2/25 - 1
3-195506529-A-AGTGT c.11921_11922insACAC p.S3975Hfs*72 Frameshift 2/25 - 2
3-195506529-A-C c.11922T>G p.R3974= Synonymous 2/25 - 2
3-195506529-A-G c.11922T>C p.R3974= Synonymous 2/25 - 2
3-195506529-A-T c.11922T>A p.R3974= Synonymous 2/25 - 2
3-195506521-GCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATA-G c.11882_11929del p.V3961_S3976del InFrameDeletion 2/25 - 1
3-195506530-C-A c.11921G>T p.R3974L Missense 2/25 - 6
3-195506530-C-G c.11921G>C p.R3974P Missense 2/25 - 7
3-195506531-G-A c.11920C>T p.R3974C Missense 2/25 - 1
3-195506531-G-C c.11920C>G p.R3974G Missense 2/25 - 1
3-195506531-G-T c.11920C>A p.R3974S Missense 2/25 - 4
3-195506532-G-A c.11919C>T p.S3973= Synonymous 2/25 - 2
3-195506530-CGGCT-C c.11917_11920del p.S3973Vfs*285 Frameshift 2/25 - 1
3-195506533-C-A c.11918G>T p.S3973I Missense 2/25 - 5
3-195506533-C-T c.11918G>A p.S3973N Missense 2/25 - 3
3-195506534-T-C c.11917A>G p.S3973G Missense 2/25 - 2
3-195506542-G-A c.11909C>T p.P3970L Missense 2/25 - 2
3-195506542-G-T c.11909C>A p.P3970H Missense 2/25 - 7
3-195506544-A-C c.11907T>G p.L3969= Synonymous 2/25 - 1
3-195506546-G-A c.11905C>T p.L3969F Missense 2/25 - 2
3-195506547-A-C c.11904T>G p.S3968= Synonymous 2/25 - 2
3-195506547-A-G c.11904T>C p.S3968= Synonymous 2/25 - 3
3-195506547-A-T c.11904T>A p.S3968= Synonymous 2/25 - 2
3-195506548-G-C c.11903C>G p.S3968C Missense 2/25 - 1
3-195506549-A-G c.11902T>C p.S3968P Missense 2/25 - 9
3-195506550-G-A c.11901C>T p.T3967= Synonymous 2/25 - 2
3-195506554-G-A c.11897C>T p.A3966V Missense 2/25 - 1
3-195506549-AGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGG-A c.11854_11901del p.P3952_T3967del InFrameDeletion 2/25 - 1
3-195506555-C-T c.11896G>A p.A3966T Missense 2/25 - 2
3-195506556-G-C c.11895C>G p.H3965Q Missense 2/25 - 1
3-195506556-G-T c.11895C>A p.H3965Q Missense 2/25 - 1
3-195506559-A-C c.11892T>G p.G3964= Synonymous 2/25 - 2
3-195506559-A-G c.11892T>C p.G3964= Synonymous 2/25 - 4
3-195506559-A-T c.11892T>A p.G3964= Synonymous 2/25 - 3
3-195506563-G-C c.11888C>G p.T3963R Missense 2/25 - 3
3-195506566-G-A c.11885C>T p.S3962F Missense 2/25 - 2
3-195506568-T-A c.11883A>T p.V3961= Synonymous 2/25 - 1
3-195506568-T-C c.11883A>G p.V3961= Synonymous 2/25 - 1
3-195506568-T-G c.11883A>C p.V3961= Synonymous 2/25 - 1
3-195506569-A-G c.11882T>C p.V3961A Missense 2/25 - 11
3-195506569-A-T c.11882T>A p.V3961E Missense 2/25 - 1
3-195506570-C-T c.11881G>A p.V3961I Missense 2/25 - 1
3-195506572-G-C c.11879C>G p.S3960* Nonsense 2/25 - 1
3-195506572-G-T c.11879C>A p.S3960* Nonsense 2/25 - 1
3-195506574-G-A c.11877C>T p.S3959= Synonymous 2/25 - 2
3-195506579-T-C c.11872A>G p.T3958A Missense 2/25 - 5
3-195506579-T-G c.11872A>C p.T3958P Missense 2/25 - 1
3-195506581-T-C c.11870A>G p.D3957G Missense 2/25 - 1
3-195506582-C-T c.11869G>A p.D3957N Missense 2/25 - 3
3-195506583-G-A c.11868C>T p.T3956= Synonymous 2/25 - 1
3-195506582-C-CGGCT c.11868_11869insAGCC p.D3957Sfs*90 Frameshift 2/25 - 1
3-195506587-A-C c.11864T>G p.V3955G Missense 2/25 - 3
3-195506590-G-A c.11861C>T p.P3954L Missense 2/25 - 2
3-195506591-G-A c.11860C>T p.P3954S Missense 2/25 - 2
3-195506597-G-A c.11854C>T p.P3952S Missense 2/25 - 11
3-195506597-G-T c.11854C>A p.P3952T Missense 2/25 - 2
3-195506601-G-A c.11850C>T p.T3950= Synonymous 2/25 - 1
3-195506601-G-C c.11850C>G p.T3950= Synonymous 2/25 - 1
3-195506601-G-T c.11850C>A p.T3950= Synonymous 2/25 - 1
3-195506602-G-C c.11849C>G p.T3950S Missense 2/25 - 2
3-195506603-T-A c.11848A>T p.T3950S Missense 2/25 - 2
3-195506603-T-C c.11848A>G p.T3950A Missense 2/25 - 12
3-195506604-G-A c.11847C>T p.D3949= Synonymous 2/25 - 2
3-195506606-C-G c.11845G>C p.D3949H Missense 2/25 - 12
3-195506608-C-G c.11843G>C p.G3948A Missense 2/25 - 1
3-195506617-G-A c.11834C>T p.A3945V Missense 2/25 - 2
3-195506625-A-C c.11826T>G p.T3942= Synonymous 2/25 - 2
3-195506625-A-G c.11826T>C p.T3942= Synonymous 2/25 - 2
3-195506625-A-T c.11826T>A p.T3942= Synonymous 2/25 - 2
3-195506626-G-A c.11825C>T p.T3942I Missense 2/25 - 1
3-195506626-GT-AG c.11824_11825delinsCT p.T3942L Missense 2/25 - 1
3-195506627-T-A c.11824A>T p.T3942S Missense 2/25 - 1
3-195506627-T-C c.11824A>G p.T3942A Missense 2/25 - 1
3-195506627-T-G c.11824A>C p.T3942P Missense 2/25 - 12
3-195506629-C-T c.11822G>A p.S3941N Missense 2/25 - 3
3-195506636-C-G c.11815G>C p.V3939L Missense 2/25 - 1
3-195506638-G-A c.11813C>T p.P3938L Missense 2/25 - 3
3-195506638-G-T c.11813C>A p.P3938H Missense 2/25 - 4
3-195506646-G-A c.11805C>T p.T3935= Synonymous 2/25 - 1
3-195506646-G-C c.11805C>G p.T3935= Synonymous 2/25 - 1
3-195506646-G-T c.11805C>A p.T3935= Synonymous 2/25 - 1
3-195506647-G-A c.11804C>T p.T3935I Missense 2/25 - 1
3-195506650-G-A c.11801C>T p.A3934V Missense 2/25 - 3
3-195506651-C-T c.11800G>A p.A3934T Missense 2/25 - 2
3-195506651-GCA-G c.11799_11800del p.A3934Hfs*15 Frameshift 2/25 - 1
3-195506652-A-C c.11799T>G p.H3933Q Missense 2/25 - 3
3-195506652-A-G c.11799T>C p.H3933= Synonymous 2/25 - 8
3-195506652-A-T c.11799T>A p.H3933Q Missense 2/25 - 1
3-195506655-T-A c.11796A>T p.G3932= Synonymous 2/25 - 7
3-195506655-T-C c.11796A>G p.G3932= Synonymous 2/25 - 2
3-195506655-T-G c.11796A>C p.G3932= Synonymous 2/25 - 5
3-195506659-G-C c.11792C>G p.T3931R Missense 2/25 - 1
3-195506661-G-A c.11790C>T p.S3930= Synonymous 2/25 - 2
3-195506661-G-C c.11790C>G p.S3930= Synonymous 2/25 - 2
3-195506664-T-A c.11787A>T p.A3929= Synonymous 2/25 - 1
3-195506664-T-C c.11787A>G p.A3929= Synonymous 2/25 - 1
3-195506664-T-G c.11787A>C p.A3929= Synonymous 2/25 - 1
3-195506665-G-A c.11786C>T p.A3929V Missense 2/25 - 3
3-195506667-C-A c.11784G>T p.S3928= Synonymous 2/25 - 4
3-195506667-C-G c.11784G>C p.S3928= Synonymous 2/25 - 2
3-195506667-C-T c.11784G>A p.S3928= Synonymous 2/25 - 5
3-195506668-G-A c.11783C>T p.S3928L Missense 2/25 - 1
3-195506674-AAC-A c.11776_11777del p.V3926Ffs*23 Frameshift 2/25 - 1
3-195506674-A-G c.11777T>C p.V3926A Missense 2/25 - 1
3-195506675-C-T c.11776G>A p.V3926I Missense 2/25 - 1
3-195506676-G-A c.11775C>T p.D3925= Synonymous 2/25 - 2
3-195506677-T-C c.11774A>G p.D3925G Missense 2/25 - 1
3-195506678-C-T c.11773G>A p.D3925N Missense 2/25 - 1
3-195506686-G-T c.11765C>A p.P3922H Missense 2/25 - 1
3-195506687-G-T c.11764C>A p.P3922T Missense 2/25 - 1
3-195506690-G-C c.11761C>G p.L3921V Missense 2/25 - 1
3-195506691-A-C c.11760T>G p.R3920= Synonymous 2/25 - 1
3-195506691-A-G c.11760T>C p.R3920= Synonymous 2/25 - 1
3-195506691-A-T c.11760T>A p.R3920= Synonymous 2/25 - 1
3-195506692-C-G c.11759G>C p.R3920P Missense 2/25 - 1
3-195506692-C-T c.11759G>A p.R3920H Missense 2/25 - 2
3-195506693-G-A c.11758C>T p.R3920C Missense 2/25 - 1
3-195506695-G-A c.11756C>T p.T3919I Missense 2/25 - 1
3-195506699-T-C c.11752A>G p.T3918A Missense 2/25 - 1
3-195506704-T-C c.11747A>G p.D3916G Missense 2/25 - 5
3-195506706-TGTGGAAGCTGAGGAAGTGTC-T c.11725_11744del p.D3909Rfs*2 Frameshift 2/25 - 1
3-195506709-G-A c.11742C>T p.S3914= Synonymous 2/25 - 1
3-195506709-G-C c.11742C>G p.S3914= Synonymous 2/25 - 1
3-195506709-G-T c.11742C>A p.S3914= Synonymous 2/25 - 1
3-195506711-A-T c.11740T>A p.S3914T Missense 2/25 - 1
3-195506705-CTGTGGAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACG-C c.11698_11745del p.R3900_T3915del InFrameDeletion 2/25 - 1
3-195506712-AAGC-A c.11737_11739del p.A3913del InFrameDeletion 2/25 - 1
3-195506712-A-C c.11739T>G p.A3913= Synonymous 2/25 - 4
3-195506712-A-G c.11739T>C p.A3913= Synonymous 2/25 - 3
3-195506712-A-T c.11739T>A p.A3913= Synonymous 2/25 - 4
3-195506716-G-A c.11735C>T p.S3912L Missense 2/25 - 1
3-195506719-G-A c.11732C>T p.S3911F Missense 2/25 - 1
3-195506719-G-T c.11732C>A p.S3911Y Missense 2/25 - 1
3-195506721-A-C c.11730T>G p.T3910= Synonymous 2/25 - 2
3-195506721-A-G c.11730T>C p.T3910= Synonymous 2/25 - 2
3-195506721-A-T c.11730T>A p.T3910= Synonymous 2/25 - 2
3-195506722-G-A c.11729C>T p.T3910I Missense 2/25 - 2
3-195506723-T-A c.11728A>T p.T3910S Missense 2/25 - 1
3-195506723-T-C c.11728A>G p.T3910A Missense 2/25 - 1
3-195506723-T-G c.11728A>C p.T3910P Missense 2/25 - 6
3-195506724-G-A c.11727C>T p.D3909= Synonymous 2/25 - 1
3-195506725-T-C c.11726A>G p.D3909G Missense 2/25 - 4
3-195506726-C-T c.11725G>A p.D3909N Missense 2/25 - 3
3-195506727-CGGTG-C c.11721_11724del p.D3909Lfs*349 Frameshift 2/25 - 1
3-195506727-G-A c.11724C>T p.T3908= Synonymous 2/25 - 2
3-195506732-ACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAGTGTCG-A c.11676_11719del p.D3893Hfs*10 Frameshift 2/25 - 1
3-195506735-G-A c.11716C>T p.P3906S Missense 2/25 - 1
3-195506738-G-C c.11713C>G p.L3905V Missense 2/25 - 1
3-195506740-AGGGGTGGCGTG-A c.11701_11711del p.H3901Sfs*13 Frameshift 2/25 - 1
3-195506740-G-A c.11711C>T p.P3904L Missense 2/25 - 1
3-195506740-G-C c.11711C>G p.P3904R Missense 2/25 - 4
3-195506740-G-T c.11711C>A p.P3904H Missense 2/25 - 1
3-195506741-G-A c.11710C>T p.P3904S Missense 2/25 - 1
3-195506745-G-A c.11706C>T p.A3902= Synonymous 2/25 - 2
3-195506745-G-C c.11706C>G p.A3902= Synonymous 2/25 - 2
3-195506745-G-T c.11706C>A p.A3902= Synonymous 2/25 - 2
3-195506746-G-A c.11705C>T p.A3902V Missense 2/25 - 19
3-195506712-AGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT-A c.11691_11738del p.R3900_T3915del InFrameDeletion 2/25 - 3
3-195506747-C-T c.11704G>A p.A3902T Missense 2/25 - 6
3-195506748-G-A c.11703C>T p.H3901= Synonymous 2/25 - 2
3-195506748-G-C c.11703C>G p.H3901Q Missense 2/25 - 3
3-195506748-G-T c.11703C>A p.H3901Q Missense 2/25 - 1
3-195506750-G-C c.11701C>G p.H3901D Missense 2/25 - 7
3-195506752-C-G c.11699G>C p.R3900P Missense 2/25 - 1
3-195506752-C-T c.11699G>A p.R3900H Missense 2/25 - 4
3-195506753-G-A c.11698C>T p.R3900C Missense 2/25 - 2
3-195506753-G-C c.11698C>G p.R3900G Missense 2/25 - 14
3-195506753-G-T c.11698C>A p.R3900S Missense 2/25 - 2
3-195506754-TG-CA c.11696_11697inv p.T3899M Missense 2/25 - 1
3-195506755-G-A c.11696C>T p.T3899I Missense 2/25 - 1
3-195506758-G-A c.11693C>T p.S3898F Missense 2/25 - 2
3-195506760-T-A c.11691A>T p.A3897= Synonymous 2/25 - 6
3-195506760-T-C c.11691A>G p.A3897= Synonymous 2/25 - 5
3-195506760-T-G c.11691A>C p.A3897= Synonymous 2/25 - 3
3-195506761-G-A c.11690C>T p.A3897V Missense 2/25 - 3
3-195506762-C-G c.11689G>C p.A3897P Missense 2/25 - 2
3-195506770-G-A c.11681C>T p.T3894I Missense 2/25 - 1
3-195506771-T-A c.11680A>T p.T3894S Missense 2/25 - 1
3-195506771-T-C c.11680A>G p.T3894A Missense 2/25 - 1
3-195506771-T-G c.11680A>C p.T3894P Missense 2/25 - 1
3-195506773-T-A c.11678A>T p.D3893V Missense 2/25 - 1
3-195506773-T-C c.11678A>G p.D3893G Missense 2/25 - 1
3-195506775-G-A c.11676C>T p.T3892= Synonymous 2/25 - 7
3-195506775-G-C c.11676C>G p.T3892= Synonymous 2/25 - 6
3-195506775-G-T c.11676C>A p.T3892= Synonymous 2/25 - 5
3-195506788-G-C c.11663C>G p.P3888R Missense 2/25 - 1
3-195506791-GT-CA c.11659_11660delinsTG p.T3887C Missense 2/25 - 1
3-195506794-G-A c.11657C>T p.T3886I Missense 2/25 - 1
3-195506794-G-C c.11657C>G p.T3886S Missense 2/25 - 1
3-195506798-C-G c.11653G>C p.D3885H Missense 2/25 - 1
3-195506800-C-T c.11651G>A p.G3884D Missense 2/25 - 1
3-195506802-T-G c.11649A>C p.T3883= Synonymous 2/25 - 1
3-195506804-T-C c.11647A>G p.T3883A Missense 2/25 - 1
3-195506808-A-C c.11643T>G p.A3881= Synonymous 2/25 - 1
3-195506808-A-G c.11643T>C p.A3881= Synonymous 2/25 - 1
3-195506808-A-T c.11643T>A p.A3881= Synonymous 2/25 - 1
3-195506809-G-T c.11642C>A p.A3881D Missense 2/25 - 1
3-195506816-A-G c.11635T>C p.S3879P Missense 2/25 - 1
3-195506818-A-G c.11633T>C p.L3878P Missense 2/25 - 1
3-195506819-G-A c.11632C>T p.L3878F Missense 2/25 - 1
3-195506822-C-G c.11629G>C p.G3877R Missense 2/25 - 1
3-195506822-C-T c.11629G>A p.G3877S Missense 2/25 - 1
3-195506826-A-C c.11625T>G p.V3875= Synonymous 2/25 - 1
3-195506826-A-G c.11625T>C p.V3875= Synonymous 2/25 - 4
3-195506826-A-T c.11625T>A p.V3875= Synonymous 2/25 - 1
3-195506830-G-A c.11621C>T p.P3874L Missense 2/25 - 1
3-195506837-G-A c.11614C>T p.P3872S Missense 2/25 - 1
3-195506837-G-T c.11614C>A p.P3872T Missense 2/25 - 1
3-195506838-G-A c.11613C>T p.T3871= Synonymous 2/25 - 1
3-195506838-G-C c.11613C>G p.T3871= Synonymous 2/25 - 1
3-195506838-G-T c.11613C>A p.T3871= Synonymous 2/25 - 1
3-195506839-G-A c.11612C>T p.T3871I Missense 2/25 - 2
3-195506839-G-T c.11612C>A p.T3871N Missense 2/25 - 1
3-195506841-G-A c.11610C>T p.A3870= Synonymous 2/25 - 1
3-195506841-G-C c.11610C>G p.A3870= Synonymous 2/25 - 1
3-195506841-G-T c.11610C>A p.A3870= Synonymous 2/25 - 1
3-195506842-G-A c.11609C>T p.A3870V Missense 2/25 - 1
3-195506846-G-A c.11605C>T p.H3869Y Missense 2/25 - 2
3-195506846-G-T c.11605C>A p.H3869N Missense 2/25 - 1
3-195506853-G-A c.11598C>T p.S3866= Synonymous 2/25 - 1
3-195506857-G-A c.11594C>T p.A3865V Missense 2/25 - 1
3-195506860-G-GA c.11590dup p.S3864Ffs*22 Frameshift 2/25 - 1
3-195506863-G-A c.11588C>T p.S3863F Missense 2/25 - 1
3-195506866-G-GCGTC c.11584_11585insGACG p.P3862Rfs*25 Frameshift 2/25 - 1
3-195506867-G-A c.11584C>T p.P3862S Missense 2/25 - 1
3-195506867-G-C c.11584C>G p.P3862A Missense 2/25 - 2
3-195506867-GGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACA-T c.11526_11584delinsA p.V3843Lfs*397 MultiAAMissense 2/25 - 1
3-195506867-GGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACA-G c.11526_11584del p.V3843Ffs*23 InFrameDeletion 2/25 - 2
3-195506867-G-T c.11584C>A p.P3862T Missense 2/25 - 3
3-195506868-G-T c.11583C>A p.S3861R Missense 2/25 - 2
3-195506869-C-A c.11582G>T p.S3861I Missense 2/25 - 1
3-195506869-C-T c.11582G>A p.S3861N Missense 2/25 - 1
3-195506871-A-C c.11580T>G p.T3860= Synonymous 2/25 - 1
3-195506871-A-G c.11580T>C p.T3860= Synonymous 2/25 - 2
3-195506871-A-T c.11580T>A p.T3860= Synonymous 2/25 - 1
3-195506871-TA-T c.11580del p.S3861Afs*398 Frameshift 2/25 - 1
3-195506876-C-A c.11575G>T p.V3859F Missense 2/25 - 1
3-195506878-G-A c.11573C>T p.P3858L Missense 2/25 - 1
3-195506879-G-A c.11572C>T p.P3858S Missense 2/25 - 2
3-195506882-G-C c.11569C>G p.L3857V Missense 2/25 - 1
3-195506883-A-ACG c.11567_11568insCG p.L3857Vfs*403 Frameshift 2/25 - 2
3-195506883-A-C c.11568T>G p.P3856= Synonymous 2/25 - 1
3-195506883-A-G c.11568T>C p.P3856= Synonymous 2/25 - 1
3-195506883-A-T c.11568T>A p.P3856= Synonymous 2/25 - 1
3-195506884-G-C c.11567C>G p.P3856R Missense 2/25 - 1
3-195506886-C-A c.11565G>T p.M3855I Missense 2/25 - 1
3-195506886-C-G c.11565G>C p.M3855I Missense 2/25 - 1
3-195506886-C-T c.11565G>A p.M3855I Missense 2/25 - 1
3-195506886-GCA-G c.11564_11565del p.M3855Tfs*6 Frameshift 2/25 - 2
3-195506887-A-G c.11564T>C p.M3855T Missense 2/25 - 5
3-195506894-C-T c.11557G>A p.D3853N Missense 2/25 - 1
3-195506895-A-G c.11556T>C p.G3852= Synonymous 2/25 - 1
3-195506899-G-A c.11552C>T p.T3851I Missense 2/25 - 1
3-195506899-G-C c.11552C>G p.T3851R Missense 2/25 - 1
3-195506900-T-A c.11551A>T p.T3851S Missense 2/25 - 1
3-195506901-G-A c.11550C>T p.S3850= Synonymous 2/25 - 3
3-195506901-G-C c.11550C>G p.S3850= Synonymous 2/25 - 1
3-195506901-G-T c.11550C>A p.S3850= Synonymous 2/25 - 1
3-195506902-G-T c.11549C>A p.S3850Y Missense 2/25 - 1
3-195506904-T-A c.11547A>T p.V3849= Synonymous 2/25 - 1
3-195506904-T-C c.11547A>G p.V3849= Synonymous 2/25 - 1
3-195506904-T-G c.11547A>C p.V3849= Synonymous 2/25 - 1
3-195506905-A-G c.11546T>C p.V3849A Missense 2/25 - 4
3-195506906-C-A c.11545G>T p.V3849L Missense 2/25 - 1
3-195506908-G-C c.11543C>G p.S3848* Nonsense 2/25 - 1
3-195506908-G-T c.11543C>A p.S3848* Nonsense 2/25 - 2
3-195506913-A-C c.11538T>G p.P3846= Synonymous 2/25 - 2
3-195506913-A-G c.11538T>C p.P3846= Synonymous 2/25 - 2
3-195506913-AG-TT c.11537_11538delinsAA p.P3846Q Missense 2/25 - 1
3-195506913-A-T c.11538T>A p.P3846= Synonymous 2/25 - 2
3-195506914-AGGGATGGTGAC-A c.11527_11537del p.V3843Ffs*7 Frameshift 2/25 - 1
3-195506914-AGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGAC-A c.11479_11537del p.V3827Ffs*7 InFrameDeletion 2/25 - 3
3-195506914-G-A c.11537C>T p.P3846L Missense 2/25 - 10
3-195506915-G-C c.11536C>G p.P3846A Missense 2/25 - 1
3-195506915-G-T c.11536C>A p.P3846T Missense 2/25 - 2
3-195506916-G-A c.11535C>T p.I3845= Synonymous 2/25 - 2
3-195506916-G-T c.11535C>A p.I3845= Synonymous 2/25 - 2
3-195506917-A-C c.11534T>G p.I3845S Missense 2/25 - 9
3-195506917-A-G c.11534T>C p.I3845T Missense 2/25 - 1
3-195506917-A-T c.11534T>A p.I3845N Missense 2/25 - 1
3-195506917-AT-TC c.11533_11534delinsGA p.I3845D Missense 2/25 - 1
3-195506918-T-C c.11533A>G p.I3845V Missense 2/25 - 1
3-195506922-G-A c.11529C>T p.V3843= Synonymous 2/25 - 1
3-195506924-C-T c.11527G>A p.V3843I Missense 2/25 - 1
3-195506928-A-C c.11523T>G p.L3841= Synonymous 2/25 - 1
3-195506928-GAAGAGGGGTGGCGTGAC-G c.11507_11523del p.G3836Afs*12 Frameshift 2/25 - 1
3-195506933-G-A c.11518C>T p.P3840S Missense 2/25 - 5
3-195506933-G-C c.11518C>G p.P3840A Missense 2/25 - 1
3-195506939-C-G c.11512G>C p.A3838P Missense 2/25 - 1
3-195506939-C-T c.11512G>A p.A3838T Missense 2/25 - 3
3-195506940-G-A c.11511C>T p.H3837= Synonymous 2/25 - 1
3-195506940-G-C c.11511C>G p.H3837Q Missense 2/25 - 10
3-195506940-G-T c.11511C>A p.H3837Q Missense 2/25 - 3
3-195506942-G-C c.11509C>G p.H3837D Missense 2/25 - 2
3-195506946-T-A c.11505A>T p.T3835= Synonymous 2/25 - 3
3-195506946-T-C c.11505A>G p.T3835= Synonymous 2/25 - 3
3-195506946-T-G c.11505A>C p.T3835= Synonymous 2/25 - 3
3-195506953-G-A c.11498C>T p.A3833V Missense 2/25 - 7
3-195506955-T-A c.11496A>T p.S3832= Synonymous 2/25 - 4
3-195506955-T-C c.11496A>G p.S3832= Synonymous 2/25 - 5
3-195506955-T-G c.11496A>C p.S3832= Synonymous 2/25 - 4
3-195506957-A-C c.11494T>G p.S3832A Missense 2/25 - 1
3-195506961-A-C c.11490T>G p.A3830= Synonymous 2/25 - 2
3-195506961-A-G c.11490T>C p.A3830= Synonymous 2/25 - 2
3-195506961-A-T c.11490T>A p.A3830= Synonymous 2/25 - 2
3-195506963-C-T c.11488G>A p.A3830T Missense 2/25 - 7
3-195506965-T-C c.11486A>G p.D3829G Missense 2/25 - 2
3-195506966-C-T c.11485G>A p.D3829N Missense 2/25 - 4
3-195506967-G-A c.11484C>T p.T3828= Synonymous 2/25 - 1
3-195506968-G-T c.11483C>A p.T3828N Missense 2/25 - 1
3-195506970-G-A c.11481C>T p.V3827= Synonymous 2/25 - 1
3-195506971-A-C c.11480T>G p.V3827G Missense 2/25 - 1
3-195506974-G-A c.11477C>T p.P3826L Missense 2/25 - 12
3-195506974-G-T c.11477C>A p.P3826H Missense 2/25 - 2
3-195506975-G-C c.11476C>G p.P3826A Missense 2/25 - 3
3-195506981-G-A c.11470C>T p.P3824S Missense 2/25 - 5
3-195506981-G-T c.11470C>A p.P3824T Missense 2/25 - 2
3-195506982-G-A c.11469C>T p.T3823= Synonymous 2/25 - 4
3-195506982-G-C c.11469C>G p.T3823= Synonymous 2/25 - 4
3-195506982-G-T c.11469C>A p.T3823= Synonymous 2/25 - 2
3-195506983-G-A c.11468C>T p.T3823I Missense 2/25 - 9
3-195506983-G-C c.11468C>G p.T3823S Missense 2/25 - 1
3-195506986-G-C c.11465C>G p.T3822S Missense 2/25 - 1
3-195506987-T-A c.11464A>T p.T3822S Missense 2/25 - 1
3-195506987-T-C c.11464A>G p.T3822A Missense 2/25 - 10
3-195506988-G-T c.11463C>A p.D3821E Missense 2/25 - 1
3-195506990-C-G c.11461G>C p.D3821H Missense 2/25 - 10
3-195506994-T-G c.11457A>C p.T3819= Synonymous 2/25 - 1
3-195507000-T-A c.11451A>T p.V3817= Synonymous 2/25 - 2
3-195507000-T-C c.11451A>G p.V3817= Synonymous 2/25 - 2
3-195507000-T-G c.11451A>C p.V3817= Synonymous 2/25 - 1
3-195507001-A-G c.11450T>C p.V3817A Missense 2/25 - 8
3-195507007-G-A c.11444C>T p.S3815F Missense 2/25 - 2
3-195506982-G-GGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGTC c.11468_11469insGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCAC p.T3823_P3824insTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTT InFrameInsertion 2/25 - 1
3-195507010-A-G c.11441T>C p.L3814P Missense 2/25 - 5
3-195507011-G-A c.11440C>T p.L3814F Missense 2/25 - 7
3-195507018-G-T c.11433C>A p.V3811= Synonymous 2/25 - 1
3-195507020-C-G c.11431G>C p.V3811L Missense 2/25 - 5
3-195507022-G-A c.11429C>T p.P3810L Missense 2/25 - 2
3-195507022-G-T c.11429C>A p.P3810H Missense 2/25 - 2
3-195507026-G-T c.11425C>A p.L3809I Missense 2/25 - 1
3-195506974-G-GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTCTGGATACTGAGGAAGTGTTGGTGACAA c.11476_11477insTTGTCACCAACACTTCCTCAGTATCCAGAGGTCACGCCACCTCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTC p.L3825_P3826insLVTNTSSVSRGHATSLPVTSLSSVSTGDTTPL InFrameInsertion 2/25 - 1
3-195507028-G-C c.11423C>G p.P3808R Missense 2/25 - 1
3-195507029-G-A c.11422C>T p.P3808S Missense 2/25 - 2
3-195507031-G-T c.11420C>A p.T3807N Missense 2/25 - 1
3-195507034-G-A c.11417C>T p.A3806V Missense 2/25 - 1
3-195507036-C-A c.11415G>T p.Q3805H Missense 2/25 - 8
3-195507036-C-G c.11415G>C p.Q3805H Missense 2/25 - 11
3-195507036-C-T c.11415G>A p.Q3805= Synonymous 2/25 - 2
3-195507038-G-T c.11413C>A p.Q3805K Missense 2/25 - 1
3-195507049-G-A c.11402C>T p.A3801V Missense 2/25 - 4
3-195507049-G-T c.11402C>A p.A3801E Missense 2/25 - 1
3-195507050-C-A c.11401G>T p.A3801S Missense 2/25 - 1
3-195507050-C-T c.11401G>A p.A3801T Missense 2/25 - 1
3-195507051-T-A c.11400A>T p.S3800= Synonymous 2/25 - 2
3-195507051-T-C c.11400A>G p.S3800= Synonymous 2/25 - 3
3-195507051-T-G c.11400A>C p.S3800= Synonymous 2/25 - 2
3-195507053-A-C c.11398T>G p.S3800A Missense 2/25 - 6
3-195507055-G-T c.11396C>A p.S3799Y Missense 2/25 - 1
3-195507059-T-C c.11392A>G p.T3798A Missense 2/25 - 7
3-195507059-T-G c.11392A>C p.T3798P Missense 2/25 - 1
3-195507061-T-C c.11390A>G p.D3797G Missense 2/25 - 2
3-195507062-C-T c.11389G>A p.D3797N Missense 2/25 - 17
3-195507063-G-A c.11388C>T p.T3796= Synonymous 2/25 - 1
3-195507064-G-C c.11387C>G p.T3796S Missense 2/25 - 5
3-195507064-G-T c.11387C>A p.T3796N Missense 2/25 - 1
3-195507065-T-A c.11386A>T p.T3796S Missense 2/25 - 2
3-195507068-C-A c.11383G>T p.V3795F Missense 2/25 - 1
3-195507068-C-T c.11383G>A p.V3795I Missense 2/25 - 1
3-195507070-G-A c.11381C>T p.P3794L Missense 2/25 - 3
3-195507070-G-T c.11381C>A p.P3794H Missense 2/25 - 6
3-195507076-G-A c.11375C>T p.P3792L Missense 2/25 - 1
3-195507077-G-A c.11374C>T p.P3792S Missense 2/25 - 14
3-195507078-G-C c.11373C>G p.T3791= Synonymous 2/25 - 1
3-195507082-G-GCA c.11368_11369insTG p.T3790Mfs*470 Frameshift 2/25 - 2
3-195507082-G-GCGTGACC c.11368_11369insGGTCACG p.T3790Rfs*34 Frameshift 2/25 - 1
3-195507083-T-A c.11368A>T p.T3790S Missense 2/25 - 2
3-195507083-T-C c.11368A>G p.T3790A Missense 2/25 - 11
3-195507084-G-A c.11367C>T p.D3789= Synonymous 2/25 - 2
3-195507085-GTC-G c.11365_11366del p.D3789Hfs*32 Frameshift 2/25 - 2
3-195507086-C-A c.11365G>T p.D3789Y Missense 2/25 - 1
3-195507086-C-G c.11365G>C p.D3789H Missense 2/25 - 16
3-195507086-C-T c.11365G>A p.D3789N Missense 2/25 - 1
3-195507088-C-T c.11363G>A p.G3788D Missense 2/25 - 2
3-195507091-G-T c.11360C>A p.T3787K Missense 2/25 - 1
3-195507092-T-A c.11359A>T p.T3787S Missense 2/25 - 6
3-195507093-G-A c.11358C>T p.S3786= Synonymous 2/25 - 1
3-195507097-G-A c.11354C>T p.A3785V Missense 2/25 - 10
3-195507100-G-A c.11351C>T p.S3784L Missense 2/25 - 1
3-195507105-A-C c.11346T>G p.A3782= Synonymous 2/25 - 2
3-195507105-A-G c.11346T>C p.A3782= Synonymous 2/25 - 2
3-195507105-A-T c.11346T>A p.A3782= Synonymous 2/25 - 2
3-195507107-C-A c.11344G>T p.A3782S Missense 2/25 - 1
3-195507107-C-G c.11344G>C p.A3782P Missense 2/25 - 3
3-195507107-C-T c.11344G>A p.A3782T Missense 2/25 - 20
3-195507108-G-A c.11343C>T p.D3781= Synonymous 2/25 - 1
3-195507109-T-A c.11342A>T p.D3781V Missense 2/25 - 6
3-195507109-T-G c.11342A>C p.D3781A Missense 2/25 - 1
3-195507110-C-T c.11341G>A p.D3781N Missense 2/25 - 2
3-195507114-G-T c.11337C>A p.V3779= Synonymous 2/25 - 1
3-195507118-G-A c.11333C>T p.P3778L Missense 2/25 - 1
3-195507118-G-T c.11333C>A p.P3778H Missense 2/25 - 1
3-195507124-G-A c.11327C>T p.P3776L Missense 2/25 - 1
3-195507124-G-C c.11327C>G p.P3776R Missense 2/25 - 1
3-195507125-G-A c.11326C>T p.P3776S Missense 2/25 - 4
3-195507126-C-A c.11325G>T p.T3775= Synonymous 2/25 - 3
3-195507126-C-G c.11325G>C p.T3775= Synonymous 2/25 - 4
3-195507126-C-T c.11325G>A p.T3775= Synonymous 2/25 - 3
3-195507127-G-A c.11324C>T p.T3775M Missense 2/25 - 1
3-195507127-G-T c.11324C>A p.T3775K Missense 2/25 - 1
3-195507129-G-A c.11322C>T p.A3774= Synonymous 2/25 - 4
3-195507129-G-C c.11322C>G p.A3774= Synonymous 2/25 - 3
3-195507129-G-T c.11322C>A p.A3774= Synonymous 2/25 - 5
3-195507130-G-A c.11321C>T p.A3774V Missense 2/25 - 2
3-195507131-C-T c.11320G>A p.A3774T Missense 2/25 - 3
3-195507134-G-C c.11317C>G p.H3773D Missense 2/25 - 1
3-195507136-C-A c.11315G>T p.G3772V Missense 2/25 - 1
3-195507136-C-T c.11315G>A p.G3772D Missense 2/25 - 2
3-195507141-G-A c.11310C>T p.S3770= Synonymous 2/25 - 1
3-195507141-G-T c.11310C>A p.S3770= Synonymous 2/25 - 1
3-195507126-CGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAAGAAGAGGG-C c.11277_11324del p.L3762_L3777del InFrameDeletion 2/25 - 1
3-195507144-ACACTGAGGAAGCGTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAG-A c.11249_11307del p.T3750Ifs*20 InFrameDeletion 2/25 - 1
3-195507144-C-A c.11307G>T p.V3769= Synonymous 2/25 - 4
3-195507144-C-G c.11307G>C p.V3769= Synonymous 2/25 - 1
3-195507144-C-T c.11307G>A p.V3769= Synonymous 2/25 - 4
3-195507145-A-G c.11306T>C p.V3769A Missense 2/25 - 1
3-195507145-A-T c.11306T>A p.V3769E Missense 2/25 - 1
3-195507149-A-G c.11302T>C p.S3768P Missense 2/25 - 1
3-195507150-G-A c.11301C>T p.S3767= Synonymous 2/25 - 1
3-195507150-G-C c.11301C>G p.S3767= Synonymous 2/25 - 1
3-195507150-G-T c.11301C>A p.S3767= Synonymous 2/25 - 1
3-195507155-C-A c.11296G>T p.A3766S Missense 2/25 - 1
3-195507155-C-T c.11296G>A p.A3766T Missense 2/25 - 6
3-195507156-G-A c.11295C>T p.D3765= Synonymous 2/25 - 1
3-195507159-G-A c.11292C>T p.T3764= Synonymous 2/25 - 1
3-195507162-G-C c.11289C>G p.V3763= Synonymous 2/25 - 2
3-195507163-A-G c.11288T>C p.V3763A Missense 2/25 - 1
3-195507165-A-C c.11286T>G p.L3762= Synonymous 2/25 - 2
3-195507165-A-G c.11286T>C p.L3762= Synonymous 2/25 - 1
3-195507165-A-T c.11286T>A p.L3762= Synonymous 2/25 - 1
3-195507166-A-G c.11285T>C p.L3762P Missense 2/25 - 22
3-195507166-A-T c.11285T>A p.L3762H Missense 2/25 - 5
3-195507173-G-A c.11278C>T p.P3760S Missense 2/25 - 9
3-195507174-G-C c.11277C>G p.T3759= Synonymous 2/25 - 1
3-195507178-G-A c.11273C>T p.A3758V Missense 2/25 - 3
3-195507179-C-T c.11272G>A p.A3758T Missense 2/25 - 2
3-195507182-G-C c.11269C>G p.H3757D Missense 2/25 - 1
3-195507189-G-A c.11262C>T p.S3754= Synonymous 2/25 - 3
3-195507189-G-C c.11262C>G p.S3754= Synonymous 2/25 - 2
3-195507189-G-T c.11262C>A p.S3754= Synonymous 2/25 - 1
3-195507192-T-A c.11259A>T p.A3753= Synonymous 2/25 - 2
3-195507192-T-C c.11259A>G p.A3753= Synonymous 2/25 - 2
3-195507192-T-G c.11259A>C p.A3753= Synonymous 2/25 - 2
3-195507193-G-A c.11258C>T p.A3753V Missense 2/25 - 20
3-195507196-G-C c.11255C>G p.S3752* Nonsense 2/25 - 1
3-195507203-T-G c.11248A>C p.T3750P Missense 2/25 - 2
3-195507204-G-GTCGGTGACAGGAAGAGAGGTGGCGTGAC c.11246_11247insGTCACGCCACCTCTCTTCCTGTCACCGA p.S3749Rfs*50 Frameshift 2/25 - 1
3-195507205-C-T c.11246G>A p.S3749N Missense 2/25 - 6
3-195507205-CT-TC c.11245_11246delinsGA p.S3749D Missense 2/25 - 1
3-195507206-T-C c.11245A>G p.S3749G Missense 2/25 - 4
3-195507206-T-G c.11245A>C p.S3749R Missense 2/25 - 1
3-195507208-G-C c.11243C>G p.T3748S Missense 2/25 - 1
3-195507214-G-T c.11237C>A p.P3746H Missense 2/25 - 1
3-195507218-G-A c.11233C>T p.L3745F Missense 2/25 - 2
3-195507218-G-C c.11233C>G p.L3745V Missense 2/25 - 1
3-195507220-G-A c.11231C>T p.P3744L Missense 2/25 - 6
3-195507220-G-T c.11231C>A p.P3744H Missense 2/25 - 1
3-195507221-G-A c.11230C>T p.P3744S Missense 2/25 - 5
3-195507225-G-A c.11226C>T p.V3742= Synonymous 2/25 - 1
3-195507225-G-C c.11226C>G p.V3742= Synonymous 2/25 - 1
3-195507225-G-T c.11226C>A p.V3742= Synonymous 2/25 - 1
3-195507226-A-C c.11225T>G p.V3742G Missense 2/25 - 1
3-195507226-ACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT-GTGTCCCCTGTGGATAATGAGGAAGCATCGGTGACATGAAGAGCGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAA c.11189_11225delinsTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCGCTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGGGACAC p.H3730_V3742delinsLVTDASSVSTGHATALHVTDASSLSTGDT MultiAAMissense 2/25 - 1
3-195507226-A-G c.11225T>C p.V3742A Missense 2/25 - 14
3-195507226-A-T c.11225T>A p.V3742D Missense 2/25 - 1
3-195507227-C-T c.11224G>A p.V3742I Missense 2/25 - 2
3-195507228-G-A c.11223C>T p.H3741= Synonymous 2/25 - 2
3-195507228-G-C c.11223C>G p.H3741Q Missense 2/25 - 15
3-195507228-G-T c.11223C>A p.H3741Q Missense 2/25 - 11
3-195507214-GGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT-G c.11189_11236del p.H3730_L3745del InFrameDeletion 2/25 - 2
3-195507237-G-A c.11214C>T p.S3738= Synonymous 2/25 - 2
3-195507237-G-C c.11214C>G p.S3738= Synonymous 2/25 - 1
3-195507237-G-T c.11214C>A p.S3738= Synonymous 2/25 - 1
3-195507238-G-A c.11213C>T p.S3738F Missense 2/25 - 2
3-195507239-A-AGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAATTGTCGGTGACAGGAAGAGGGGTGGTGTCATCTGTGGTAGCTGAGGAAAGGCT c.11211_11212insAGCCTTTCCTCAGCTACCACAGATGACACCACCCCTCTTCCTGTCACCGACAATTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACC p.S3738_T3739insLSSATTDDTTPLPVTDNSSVSTGHATPLPVTS InFrameInsertion 2/25 - 1
3-195507240-T-A c.11211A>T p.A3737= Synonymous 2/25 - 2
3-195507240-T-C c.11211A>G p.A3737= Synonymous 2/25 - 2
3-195507240-T-G c.11211A>C p.A3737= Synonymous 2/25 - 2
3-195507241-G-A c.11210C>T p.A3737V Missense 2/25 - 4
3-195507242-C-A c.11209G>T p.A3737S Missense 2/25 - 11
3-195507242-C-CGCTGCTAGGGCTTGTTACATGAAGAGGTGTTACATGACCTGTGCTTACGCTGCTTGTGCTTGTTACAGGAAGAGGTGTTGCTTGACCTGTGCTGCT c.11208_11209insAGCAGCACAGGTCAAGCAACACCTCTTCCTGTAACAAGCACAAGCAGCGTAAGCACAGGTCATGTAACACCTCTTCATGTAACAAGCCCTAGCAGC p.S3736_A3737insSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSS InFrameInsertion 2/25 - 2
3-195507243-T-A c.11208A>T p.S3736= Synonymous 2/25 - 2
3-195507243-T-C c.11208A>G p.S3736= Synonymous 2/25 - 1
3-195507243-T-G c.11208A>C p.S3736= Synonymous 2/25 - 1
3-195507244-G-C c.11207C>G p.S3736* Nonsense 2/25 - 1
3-195507247-G-A c.11204C>T p.S3735F Missense 2/25 - 1
3-195507251-G-C c.11200C>G p.P3734A Missense 2/25 - 1
3-195507251-G-T c.11200C>A p.P3734T Missense 2/25 - 13
3-195507256-G-C c.11195C>G p.T3732S Missense 2/25 - 1
3-195507261-A-G c.11190T>C p.H3730= Synonymous 2/25 - 1
3-195507262-T-A c.11189A>T p.H3730L Missense 2/25 - 2
3-195507262-T-C c.11189A>G p.H3730R Missense 2/25 - 1
3-195507262-T-G c.11189A>C p.H3730P Missense 2/25 - 19
3-195507263-G-A c.11188C>T p.H3730Y Missense 2/25 - 2
3-195507268-G-C c.11183C>G p.P3728R Missense 2/25 - 2
3-195507271-G-C c.11180C>G p.T3727S Missense 2/25 - 2
3-195507274-A-G c.11177T>C p.V3726A Missense 2/25 - 1
3-195507274-GACGTGACCTGTAGATACTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGA-G c.11119_11177del p.S3707Hfs*63 InFrameDeletion 2/25 - 1
3-195507275-C-T c.11176G>A p.V3726I Missense 2/25 - 1
3-195507276-G-A c.11175C>T p.H3725= Synonymous 2/25 - 1
3-195507281-C-A c.11170G>T p.G3724C Missense 2/25 - 1
3-195507281-C-CAGG c.11169_11170insCCT p.T3723_G3724insP InFrameInsertion 2/25 - 1
3-195507285-A-G c.11166T>C p.S3722= Synonymous 2/25 - 1
3-195507285-TAGA-T c.11164_11166del p.S3722del InFrameDeletion 2/25 - 1
3-195507288-T-A c.11163A>T p.V3721= Synonymous 2/25 - 1
3-195507288-T-C c.11163A>G p.V3721= Synonymous 2/25 - 3
3-195507288-T-G c.11163A>C p.V3721= Synonymous 2/25 - 1
3-195507289-A-G c.11162T>C p.V3721A Missense 2/25 - 1
3-195507292-G-A c.11159C>T p.S3720L Missense 2/25 - 3
3-195507299-T-C c.11152A>G p.T3718A Missense 2/25 - 1
3-195507300-G-A c.11151C>T p.S3717= Synonymous 2/25 - 1
3-195507302-T-C c.11149A>G p.S3717G Missense 2/25 - 1
3-195507308-C-G c.11143G>C p.V3715L Missense 2/25 - 1
3-195507310-G-T c.11141C>A p.P3714H Missense 2/25 - 3
3-195507311-G-A c.11140C>T p.P3714S Missense 2/25 - 2
3-195507316-G-A c.11135C>T p.P3712L Missense 2/25 - 1
3-195507317-G-A c.11134C>T p.P3712S Missense 2/25 - 1
3-195507242-C-CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA c.11208_11209insTCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA p.S3736_A3737insSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSS InFrameInsertion 2/25 - 3
3-195507285-A-AGATACTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGAGGATGATGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCGTGACCTGTG c.11165_11166insCACAGGTCACGCCACCTCTCTTCCTGTCACCATCCCTTCCTCATCATCCTCAGGTCACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGTATC p.H3725_V3726insATSLPVTIPSSSSSGHATPLPVTSTSSVSTGH InFrameInsertion 2/25 - 1
3-195507314-G-GAGGGGTGGCCTGACCTGTGGATGATGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTGGTGACAGGAAT c.11136_11137insATTCCTGTCACCAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCATCATCCACAGGTCAGGCCACCCCT p.P3712_L3713insIPVTSTSSVSTGHVTPLHVTSPSSSSTGQATP InFrameInsertion 2/25 - 1
3-195507317-GGGT-G c.11131_11133del p.T3711del InFrameDeletion 2/25 - 1
3-195507322-G-C c.11129C>G p.T3710S Missense 2/25 - 1
3-195507301-CTGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGATGAGGAAGGGA-C c.11102_11149del p.I3701_T3716del InFrameDeletion 2/25 - 1
3-195507323-T-C c.11128A>G p.T3710A Missense 2/25 - 10
3-195507324-G-C c.11127C>G p.H3709Q Missense 2/25 - 12
3-195507324-G-T c.11127C>A p.H3709Q Missense 2/25 - 6
3-195507328-C-G c.11123G>C p.G3708A Missense 2/25 - 1
3-195507330-T-G c.11121A>C p.S3707= Synonymous 2/25 - 1
3-195507332-A-C c.11119T>G p.S3707A Missense 2/25 - 1
3-195507332-A-T c.11119T>A p.S3707T Missense 2/25 - 8
3-195507333-G-A c.11118C>T p.S3706= Synonymous 2/25 - 1
3-195507338-A-C c.11113T>G p.S3705A Missense 2/25 - 2
3-195507338-A-T c.11113T>A p.S3705T Missense 2/25 - 1
3-195507340-G-A c.11111C>T p.S3704L Missense 2/25 - 1
3-195507341-A-ACCAACCT c.11109_11110insAGGTTGG p.S3704Rfs*88 Frameshift 2/25 - 1
3-195507346-G-A c.11105C>T p.P3702L Missense 2/25 - 1
3-195507346-G-T c.11105C>A p.P3702H Missense 2/25 - 1
3-195507347-G-A c.11104C>T p.P3702S Missense 2/25 - 1
3-195507347-G-C c.11104C>G p.P3702A Missense 2/25 - 1
3-195507347-G-T c.11104C>A p.P3702T Missense 2/25 - 1
3-195507349-A-C c.11102T>G p.I3701S Missense 2/25 - 9
3-195507350-T-C c.11101A>G p.I3701V Missense 2/25 - 1
3-195507350-T-G c.11101A>C p.I3701L Missense 2/25 - 1
3-195507351-G-A c.11100C>T p.T3700= Synonymous 2/25 - 1
3-195507358-G-A c.11093C>T p.P3698L Missense 2/25 - 1
3-195507358-G-T c.11093C>A p.P3698H Missense 2/25 - 9
3-195507363-A-C c.11088T>G p.P3696= Synonymous 2/25 - 2
3-195507363-A-G c.11088T>C p.P3696= Synonymous 2/25 - 2
3-195507363-A-T c.11088T>A p.P3696= Synonymous 2/25 - 2
3-195507351-G-GGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTTGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTT c.11099_11100insAAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCAACACTTCCTCAGCATCCACAGGTCACGCCACCTCTCTTCCTGTCAC p.T3700_I3701insSLSSVSTGDTTPLLVTNTSSASTGHATSLPVT InFrameInsertion 2/25 - 2
3-195507364-G-A c.11087C>T p.P3696L Missense 2/25 - 1
3-195507365-G-A c.11086C>T p.P3696S Missense 2/25 - 14
3-195507365-G-C c.11086C>G p.P3696A Missense 2/25 - 2
3-195507366-G-C c.11085C>G p.T3695= Synonymous 2/25 - 1
3-195507367-G-A c.11084C>T p.T3695I Missense 2/25 - 1
3-195507370-G-A c.11081C>T p.A3694V Missense 2/25 - 3
3-195507364-GGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCCGTGACAGGAAGAC-G c.11039_11086del p.R3680_T3695del InFrameDeletion 2/25 - 1
3-195507372-C-A c.11079G>T p.Q3693H Missense 2/25 - 13
3-195507372-C-G c.11079G>C p.Q3693H Missense 2/25 - 15
3-195507372-C-T c.11079G>A p.Q3693= Synonymous 2/25 - 2
3-195507376-C-T c.11075G>A p.G3692D Missense 2/25 - 2
3-195507378-T-A c.11073A>T p.T3691= Synonymous 2/25 - 1
3-195507378-T-C c.11073A>G p.T3691= Synonymous 2/25 - 1
3-195507378-T-G c.11073A>C p.T3691= Synonymous 2/25 - 1
3-195507379-G-C c.11072C>G p.T3691R Missense 2/25 - 10
3-195507381-G-A c.11070C>T p.S3690= Synonymous 2/25 - 2
3-195507381-G-C c.11070C>G p.S3690= Synonymous 2/25 - 1
3-195507381-G-T c.11070C>A p.S3690= Synonymous 2/25 - 1
3-195507384-T-A c.11067A>T p.A3689= Synonymous 2/25 - 2
3-195507384-T-C c.11067A>G p.A3689= Synonymous 2/25 - 2
3-195507384-T-G c.11067A>C p.A3689= Synonymous 2/25 - 2
3-195507385-G-A c.11066C>T p.A3689V Missense 2/25 - 12
3-195507389-A-C c.11062T>G p.S3688A Missense 2/25 - 1
3-195507390-G-T c.11061C>A p.S3687= Synonymous 2/25 - 1
3-195507394-G-GGGA c.11056_11057insTCC p.T3686delinsIP MultiAAMissense 2/25 - 1
3-195507394-G-GGGC c.11056_11057insGCC p.T3686delinsSP MultiAAMissense 2/25 - 1
3-195507395-T-A c.11056A>T p.T3686S Missense 2/25 - 1
3-195507396-G-A c.11055C>T p.D3685= Synonymous 2/25 - 2
3-195507397-GTC-G c.11053_11054del p.D3685Hfs*104 Frameshift 2/25 - 1
3-195507398-C-T c.11053G>A p.D3685N Missense 2/25 - 3
3-195507398-TCCG-T c.11051_11053del p.T3684_D3685delinsN MultiAAMissense 2/25 - 2
3-195507374-GACCTGTGGATGCTGAGGAAGTGTCCGTGACAGGAAGACGGGTGGTGTC-G c.11029_11076del p.D3677_G3692del InFrameDeletion 2/25 - 1
3-195507399-C-A c.11052G>T p.T3684= Synonymous 2/25 - 3
3-195507399-C-CTG c.11051_11052insCA p.D3685Rfs*575 Frameshift 2/25 - 1
3-195507399-C-G c.11052G>C p.T3684= Synonymous 2/25 - 4
3-195507399-C-T c.11052G>A p.T3684= Synonymous 2/25 - 4
3-195507400-G-A c.11051C>T p.T3684M Missense 2/25 - 1
3-195507400-G-C c.11051C>G p.T3684R Missense 2/25 - 1
3-195507402-G-A c.11049C>T p.V3683= Synonymous 2/25 - 1
3-195507401-TGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG-T c.10991_11049del p.P3664Hfs*106 InFrameDeletion 2/25 - 2
3-195507404-C-T c.11047G>A p.V3683I Missense 2/25 - 1
3-195507405-A-C c.11046T>G p.P3682= Synonymous 2/25 - 3
3-195507405-A-G c.11046T>C p.P3682= Synonymous 2/25 - 3
3-195507405-A-T c.11046T>A p.P3682= Synonymous 2/25 - 3
3-195507406-AGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGT-A c.10987_11045del p.T3663Cfs*107 InFrameDeletion 2/25 - 1
3-195507406-G-A c.11045C>T p.P3682L Missense 2/25 - 9
3-195507411-A-C c.11040T>G p.R3680= Synonymous 2/25 - 2
3-195507411-A-G c.11040T>C p.R3680= Synonymous 2/25 - 2
3-195507411-A-T c.11040T>A p.R3680= Synonymous 2/25 - 2
3-195507412-C-G c.11039G>C p.R3680P Missense 2/25 - 10
3-195507412-C-T c.11039G>A p.R3680H Missense 2/25 - 1
3-195507413-G-A c.11038C>T p.R3680C Missense 2/25 - 1
3-195507419-T-C c.11032A>G p.T3678A Missense 2/25 - 1
3-195507422-C-G c.11029G>C p.D3677H Missense 2/25 - 5
3-195507428-T-A c.11023A>T p.T3675S Missense 2/25 - 5
3-195507433-G-A c.11018C>T p.A3673V Missense 2/25 - 6
3-195507434-C-A c.11017G>T p.A3673S Missense 2/25 - 6
3-195507442-AGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGAC-A c.10951_11009del p.V3651Ffs*7 InFrameDeletion 2/25 - 1
3-195507443-T-C c.11008A>G p.T3670A Missense 2/25 - 1
3-195507443-T-G c.11008A>C p.T3670P Missense 2/25 - 5
3-195507443-TGTC-T c.11005_11007del p.D3669del InFrameDeletion 2/25 - 1
3-195507445-T-A c.11006A>T p.D3669V Missense 2/25 - 4
3-195507445-T-C c.11006A>G p.D3669G Missense 2/25 - 1
3-195507446-C-T c.11005G>A p.D3669N Missense 2/25 - 10
3-195507443-TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGC-T c.10960_11007del p.A3654_D3669del InFrameDeletion 2/25 - 1
3-195507454-G-T c.10997C>A p.P3666H Missense 2/25 - 1
3-195507455-G-C c.10996C>G p.P3666A Missense 2/25 - 1
3-195507455-G-T c.10996C>A p.P3666T Missense 2/25 - 1
3-195507458-G-C c.10993C>G p.L3665V Missense 2/25 - 1
3-195507461-G-A c.10990C>T p.P3664S Missense 2/25 - 13
3-195507466-G-A c.10985C>T p.A3662V Missense 2/25 - 1
3-195507468-G-C c.10983C>G p.H3661Q Missense 2/25 - 1
3-195507468-G-T c.10983C>A p.H3661Q Missense 2/25 - 1
3-195507470-G-C c.10981C>G p.H3661D Missense 2/25 - 1
3-195507472-C-G c.10979G>C p.G3660A Missense 2/25 - 2
3-195507475-G-C c.10976C>G p.T3659R Missense 2/25 - 7
3-195507476-T-G c.10975A>C p.T3659P Missense 2/25 - 1
3-195507481-A-G c.10970T>C p.V3657A Missense 2/25 - 3
3-195507481-A-T c.10970T>A p.V3657E Missense 2/25 - 1
3-195507481-TACTGAGGAAGCGTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAG-T c.10912_10970del p.L3638Ifs*20 InFrameDeletion 2/25 - 1
3-195507484-G-C c.10967C>G p.S3656* Nonsense 2/25 - 1
3-195507489-A-C c.10962T>G p.A3654= Synonymous 2/25 - 2
3-195507489-A-G c.10962T>C p.A3654= Synonymous 2/25 - 2
3-195507489-A-T c.10962T>A p.A3654= Synonymous 2/25 - 2
3-195507490-G-C c.10961C>G p.A3654G Missense 2/25 - 1
3-195507491-C-T c.10960G>A p.A3654T Missense 2/25 - 11
3-195507492-G-A c.10959C>T p.D3653= Synonymous 2/25 - 2
3-195507492-G-C c.10959C>G p.D3653E Missense 2/25 - 1
3-195507492-G-T c.10959C>A p.D3653E Missense 2/25 - 1
3-195507494-C-A c.10957G>T p.D3653Y Missense 2/25 - 1
3-195507494-C-T c.10957G>A p.D3653N Missense 2/25 - 16
3-195507495-G-A c.10956C>T p.T3652= Synonymous 2/25 - 3
3-195507495-G-C c.10956C>G p.T3652= Synonymous 2/25 - 2
3-195507495-G-T c.10956C>A p.T3652= Synonymous 2/25 - 2
3-195507502-A-G c.10949T>C p.L3650P Missense 2/25 - 7
3-195507502-A-T c.10949T>A p.L3650H Missense 2/25 - 1
3-195507503-G-A c.10948C>T p.L3650F Missense 2/25 - 3
3-195507505-A-G c.10946T>C p.L3649P Missense 2/25 - 2
3-195507510-G-A c.10941C>T p.T3647= Synonymous 2/25 - 1
3-195507510-G-C c.10941C>G p.T3647= Synonymous 2/25 - 1
3-195507510-G-T c.10941C>A p.T3647= Synonymous 2/25 - 1
3-195507512-T-C c.10939A>G p.T3647A Missense 2/25 - 1
3-195507518-C-G c.10933G>C p.D3645H Missense 2/25 - 1
3-195507529-A-G c.10922T>C p.V3641A Missense 2/25 - 2
3-195507532-G-A c.10919C>T p.S3640L Missense 2/25 - 1
3-195507537-A-T c.10914T>A p.L3638= Synonymous 2/25 - 2
3-195507538-A-G c.10913T>C p.L3638P Missense 2/25 - 1
3-195507540-G-A c.10911C>T p.S3637= Synonymous 2/25 - 1
3-195507543-G-A c.10908C>T p.T3636= Synonymous 2/25 - 1
3-195507543-G-C c.10908C>G p.T3636= Synonymous 2/25 - 1
3-195507543-G-T c.10908C>A p.T3636= Synonymous 2/25 - 2
3-195507544-G-T c.10907C>A p.T3636N Missense 2/25 - 1
3-195507548-C-A c.10903G>T p.V3635F Missense 2/25 - 2
3-195507550-G-A c.10901C>T p.P3634L Missense 2/25 - 2
3-195507554-G-C c.10897C>G p.L3633V Missense 2/25 - 1
3-195507562-G-A c.10889C>T p.A3630V Missense 2/25 - 3
3-195507562-GGCCTGAC-G c.10883_10889del p.G3628Afs*629 Frameshift 2/25 - 1
3-195507563-C-T c.10888G>A p.A3630T Missense 2/25 - 1
3-195507564-C-A c.10887G>T p.Q3629H Missense 2/25 - 3
3-195507564-C-G c.10887G>C p.Q3629H Missense 2/25 - 3
3-195507564-C-T c.10887G>A p.Q3629= Synonymous 2/25 - 1
3-195507570-TG-CA c.10880_10881inv p.T3627M Missense 2/25 - 1
3-195507573-G-A c.10878C>T p.S3626= Synonymous 2/25 - 1
3-195507576-T-A c.10875A>T p.A3625= Synonymous 2/25 - 1
3-195507576-T-C c.10875A>G p.A3625= Synonymous 2/25 - 1
3-195507576-T-G c.10875A>C p.A3625= Synonymous 2/25 - 1
3-195507577-G-A c.10874C>T p.A3625V Missense 2/25 - 4
3-195507577-G-T c.10874C>A p.A3625E Missense 2/25 - 1
3-195507578-C-A c.10873G>T p.A3625S Missense 2/25 - 7
3-195507578-C-T c.10873G>A p.A3625T Missense 2/25 - 1
3-195507581-A-T c.10870T>A p.S3624T Missense 2/25 - 1
3-195507583-G-A c.10868C>T p.S3623F Missense 2/25 - 1
3-195507587-T-A c.10864A>T p.T3622S Missense 2/25 - 1
3-195507587-T-C c.10864A>G p.T3622A Missense 2/25 - 3
3-195507587-T-G c.10864A>C p.T3622P Missense 2/25 - 1
3-195507590-C-T c.10861G>A p.D3621N Missense 2/25 - 3
3-195507591-C-A c.10860G>T p.T3620= Synonymous 2/25 - 10
3-195507591-C-G c.10860G>C p.T3620= Synonymous 2/25 - 11
3-195507591-CG-GC c.10859_10860delinsGC p.T3620S Missense 2/25 - 1
3-195507591-C-T c.10860G>A p.T3620= Synonymous 2/25 - 11
3-195507592-G-C c.10859C>G p.T3620R Missense 2/25 - 1
3-195507594-G-A c.10857C>T p.V3619= Synonymous 2/25 - 1
3-195507594-G-C c.10857C>G p.V3619= Synonymous 2/25 - 1
3-195507594-G-T c.10857C>A p.V3619= Synonymous 2/25 - 1
3-195507598-G-A c.10853C>T p.P3618L Missense 2/25 - 5
3-195507598-G-T c.10853C>A p.P3618H Missense 2/25 - 5
3-195507599-G-A c.10852C>T p.P3618S Missense 2/25 - 2
3-195507601-A-C c.10850T>G p.L3617R Missense 2/25 - 1
3-195507604-C-A c.10847G>T p.R3616L Missense 2/25 - 2
3-195507604-C-G c.10847G>C p.R3616P Missense 2/25 - 7
3-195507604-C-T c.10847G>A p.R3616H Missense 2/25 - 3
3-195507605-G-A c.10846C>T p.R3616C Missense 2/25 - 6
3-195507611-T-C c.10840A>G p.T3614A Missense 2/25 - 1
3-195507612-G-C c.10839C>G p.D3613E Missense 2/25 - 1
3-195507614-C-G c.10837G>C p.D3613H Missense 2/25 - 8
3-195507620-T-A c.10831A>T p.T3611S Missense 2/25 - 5
3-195507625-G-A c.10826C>T p.A3609V Missense 2/25 - 2
3-195507625-G-T c.10826C>A p.A3609E Missense 2/25 - 2
3-195507626-C-A c.10825G>T p.A3609S Missense 2/25 - 2
3-195507634-G-A c.10817C>T p.T3606I Missense 2/25 - 1
3-195507635-T-C c.10816A>G p.T3606A Missense 2/25 - 3
3-195507635-T-G c.10816A>C p.T3606P Missense 2/25 - 5
3-195507637-T-C c.10814A>G p.D3605G Missense 2/25 - 2
3-195507638-C-T c.10813G>A p.D3605N Missense 2/25 - 1
3-195507646-G-T c.10805C>A p.P3602H Missense 2/25 - 1
3-195507659-C-T c.10792G>A p.A3598T Missense 2/25 - 1
3-195507660-G-A c.10791C>T p.H3597= Synonymous 2/25 - 3
3-195507660-G-C c.10791C>G p.H3597Q Missense 2/25 - 4
3-195507660-G-T c.10791C>A p.H3597Q Missense 2/25 - 1
3-195507664-C-G c.10787G>C p.G3596A Missense 2/25 - 2
3-195507666-T-A c.10785A>T p.T3595= Synonymous 2/25 - 4
3-195507666-T-C c.10785A>G p.T3595= Synonymous 2/25 - 2
3-195507666-T-G c.10785A>C p.T3595= Synonymous 2/25 - 4
3-195507668-T-A c.10783A>T p.T3595S Missense 2/25 - 4
3-195507673-A-G c.10778T>C p.V3593A Missense 2/25 - 6
3-195507672-TACTGAGG-T c.10772_10778del p.S3591Yfs*666 Frameshift 2/25 - 1
3-195507675-T-A c.10776A>T p.S3592= Synonymous 2/25 - 1
3-195507675-T-C c.10776A>G p.S3592= Synonymous 2/25 - 3
3-195507675-T-G c.10776A>C p.S3592= Synonymous 2/25 - 1
3-195507676-G-T c.10775C>A p.S3592* Nonsense 2/25 - 1
3-195507681-A-C c.10770T>G p.A3590= Synonymous 2/25 - 2
3-195507681-A-G c.10770T>C p.A3590= Synonymous 2/25 - 2
3-195507681-A-T c.10770T>A p.A3590= Synonymous 2/25 - 2
3-195507682-G-C c.10769C>G p.A3590G Missense 2/25 - 1
3-195507683-C-A c.10768G>T p.A3590S Missense 2/25 - 3
3-195507683-C-G c.10768G>C p.A3590P Missense 2/25 - 2
3-195507683-C-T c.10768G>A p.A3590T Missense 2/25 - 8
3-195507684-G-A c.10767C>T p.D3589= Synonymous 2/25 - 1
3-195507685-T-A c.10766A>T p.D3589V Missense 2/25 - 1
3-195507686-C-T c.10765G>A p.D3589N Missense 2/25 - 5
3-195507693-A-C c.10758T>G p.L3586= Synonymous 2/25 - 2
3-195507693-A-G c.10758T>C p.L3586= Synonymous 2/25 - 2
3-195507693-A-T c.10758T>A p.L3586= Synonymous 2/25 - 2
3-195507694-A-G c.10757T>C p.L3586P Missense 2/25 - 14
3-195507694-A-T c.10757T>A p.L3586H Missense 2/25 - 3
3-195507698-G-C c.10753C>G p.L3585V Missense 2/25 - 1
3-195507701-G-T c.10750C>A p.P3584T Missense 2/25 - 1
3-195507702-G-A c.10749C>T p.T3583= Synonymous 2/25 - 2
3-195507702-G-C c.10749C>G p.T3583= Synonymous 2/25 - 5
3-195507702-G-T c.10749C>A p.T3583= Synonymous 2/25 - 2
3-195507705-G-A c.10746C>T p.T3582= Synonymous 2/25 - 1
3-195507705-G-C c.10746C>G p.T3582= Synonymous 2/25 - 1
3-195507705-G-T c.10746C>A p.T3582= Synonymous 2/25 - 1
3-195507707-T-C c.10744A>G p.T3582A Missense 2/25 - 2
3-195507708-G-C c.10743C>G p.D3581E Missense 2/25 - 1
3-195507710-C-G c.10741G>C p.D3581H Missense 2/25 - 1
3-195507712-C-T c.10739G>A p.G3580D Missense 2/25 - 1
3-195507715-G-A c.10736C>T p.T3579I Missense 2/25 - 4
3-195507715-G-C c.10736C>G p.T3579R Missense 2/25 - 4
3-195507717-G-A c.10734C>T p.S3578= Synonymous 2/25 - 3
3-195507717-G-C c.10734C>G p.S3578= Synonymous 2/25 - 3
3-195507717-G-T c.10734C>A p.S3578= Synonymous 2/25 - 7
3-195507721-A-G c.10730T>C p.V3577A Missense 2/25 - 3
3-195507722-C-G c.10729G>C p.V3577L Missense 2/25 - 1
3-195507723-T-A c.10728A>T p.S3576= Synonymous 2/25 - 1
3-195507723-T-C c.10728A>G p.S3576= Synonymous 2/25 - 1
3-195507723-T-G c.10728A>C p.S3576= Synonymous 2/25 - 1
3-195507726-G-A c.10725C>T p.S3575= Synonymous 2/25 - 1
3-195507727-G-A c.10724C>T p.S3575F Missense 2/25 - 1
3-195507730-A-G c.10721T>C p.L3574P Missense 2/25 - 1
3-195507731-G-A c.10720C>T p.L3574F Missense 2/25 - 5
3-195507733-C-A c.10718G>T p.S3573I Missense 2/25 - 2
3-195507733-C-T c.10718G>A p.S3573N Missense 2/25 - 4
3-195507733-CT-GG c.10717_10718delinsCC p.S3573P Missense 2/25 - 1
3-195507735-G-A c.10716C>T p.T3572= Synonymous 2/25 - 5
3-195507735-G-C c.10716C>G p.T3572= Synonymous 2/25 - 5
3-195507735-G-T c.10716C>A p.T3572= Synonymous 2/25 - 5
3-195507743-G-A c.10708C>T p.P3570S Missense 2/25 - 1
3-195507744-A-C c.10707T>G p.L3569= Synonymous 2/25 - 1
3-195507744-A-G c.10707T>C p.L3569= Synonymous 2/25 - 1
3-195507744-A-T c.10707T>A p.L3569= Synonymous 2/25 - 1
3-195507746-G-A c.10705C>T p.L3569F Missense 2/25 - 1
3-195507750-GGGTGGCCTGACCTGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCAC-G c.10643_10701del p.G3548Afs*14 InFrameDeletion 2/25 - 1
3-195507751-G-A c.10700C>T p.T3567I Missense 2/25 - 1
3-195507756-C-A c.10695G>T p.Q3565H Missense 2/25 - 6
3-195507756-C-G c.10695G>C p.Q3565H Missense 2/25 - 9
3-195507756-C-T c.10695G>A p.Q3565= Synonymous 2/25 - 1
3-195507760-CC-TA c.10690_10691delinsTA p.G3564Y Missense 2/25 - 1
3-195507762-T-A c.10689A>T p.T3563= Synonymous 2/25 - 6
3-195507762-T-C c.10689A>G p.T3563= Synonymous 2/25 - 4
3-195507762-T-G c.10689A>C p.T3563= Synonymous 2/25 - 8
3-195507763-G-C c.10688C>G p.T3563R Missense 2/25 - 1
3-195507769-G-A c.10682C>T p.A3561V Missense 2/25 - 5
3-195507771-C-A c.10680G>T p.S3560= Synonymous 2/25 - 2
3-195507771-C-G c.10680G>C p.S3560= Synonymous 2/25 - 2
3-195507771-C-T c.10680G>A p.S3560= Synonymous 2/25 - 6
3-195507772-G-A c.10679C>T p.S3560L Missense 2/25 - 2
3-195507778-G-A c.10673C>T p.A3558V Missense 2/25 - 3
3-195507779-C-T c.10672G>A p.A3558T Missense 2/25 - 5
3-195507780-G-A c.10671C>T p.D3557= Synonymous 2/25 - 1
3-195507782-C-T c.10669G>A p.D3557N Missense 2/25 - 4
3-195507783-G-A c.10668C>T p.T3556= Synonymous 2/25 - 1
3-195507783-G-C c.10668C>G p.T3556= Synonymous 2/25 - 1
3-195507783-G-T c.10668C>A p.T3556= Synonymous 2/25 - 1
3-195507790-G-A c.10661C>T p.P3554L Missense 2/25 - 7
3-195507794-G-C c.10657C>G p.L3553V Missense 2/25 - 1
3-195507797-G-A c.10654C>T p.P3552S Missense 2/25 - 1
3-195507798-G-A c.10653C>T p.T3551= Synonymous 2/25 - 2
3-195507798-G-C c.10653C>G p.T3551= Synonymous 2/25 - 2
3-195507798-G-T c.10653C>A p.T3551= Synonymous 2/25 - 1
3-195507806-C-G c.10645G>C p.D3549H Missense 2/25 - 1
3-195507812-T-C c.10639A>G p.T3547A Missense 2/25 - 2
3-195507762-T-TGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCG c.10688_10689insCGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCAC p.G3564_Q3565insHATPLPVTDTSSASTGDTTPLPVTDASSASTG InFrameInsertion 2/25 - 1
3-195507815-ATAC-A c.10633_10635del p.V3545del InFrameDeletion 2/25 - 1
3-195507817-A-G c.10634T>C p.V3545A Missense 2/25 - 4
3-195507818-C-T c.10633G>A p.V3545I Missense 2/25 - 1
3-195507821-AG-A c.10629del p.S3544Qfs*715 Frameshift 2/25 - 1
3-195507823-G-A c.10628C>T p.S3543F Missense 2/25 - 3
3-195507824-A-G c.10627T>C p.S3543P Missense 2/25 - 1
3-195507825-A-C c.10626T>G p.L3542= Synonymous 2/25 - 1
3-195507825-A-G c.10626T>C p.L3542= Synonymous 2/25 - 1
3-195507825-A-T c.10626T>A p.L3542= Synonymous 2/25 - 2
3-195507826-AG-CT c.10624_10625inv p.L3542S Missense 2/25 - 1
3-195507826-A-T c.10625T>A p.L3542H Missense 2/25 - 1
3-195507827-G-A c.10624C>T p.L3542F Missense 2/25 - 16
3-195507827-G-T c.10624C>A p.L3542I Missense 2/25 - 1
3-195507828-G-A c.10623C>T p.S3541= Synonymous 2/25 - 3
3-195507828-G-C c.10623C>G p.S3541R Missense 2/25 - 3
3-195507828-G-T c.10623C>A p.S3541R Missense 2/25 - 3
3-195507830-T-C c.10621A>G p.S3541G Missense 2/25 - 1
3-195507831-G-T c.10620C>A p.T3540= Synonymous 2/25 - 1
3-195507836-C-G c.10615G>C p.V3539L Missense 2/25 - 3
3-195507839-G-A c.10612C>T p.P3538S Missense 2/25 - 1
3-195507839-G-T c.10612C>A p.P3538T Missense 2/25 - 1
3-195507845-G-A c.10606C>T p.P3536S Missense 2/25 - 3
3-195507846-C-A c.10605G>T p.T3535= Synonymous 2/25 - 10
3-195507846-C-G c.10605G>C p.T3535= Synonymous 2/25 - 11
3-195507846-C-T c.10605G>A p.T3535= Synonymous 2/25 - 10
3-195507847-G-C c.10604C>G p.T3535R Missense 2/25 - 1
3-195507851-C-A c.10600G>T p.A3534S Missense 2/25 - 1
3-195507851-C-G c.10600G>C p.A3534P Missense 2/25 - 1
3-195507851-C-T c.10600G>A p.A3534T Missense 2/25 - 3
3-195507852-G-A c.10599C>T p.H3533= Synonymous 2/25 - 3
3-195507854-G-A c.10597C>T p.H3533Y Missense 2/25 - 1
3-195507854-G-C c.10597C>G p.H3533D Missense 2/25 - 3
3-195507858-G-A c.10593C>T p.T3531= Synonymous 2/25 - 14
3-195507858-G-C c.10593C>G p.T3531= Synonymous 2/25 - 5
3-195507858-GG-CC c.10592_10593inv p.T3531R Missense 2/25 - 1
3-195507858-G-T c.10593C>A p.T3531= Synonymous 2/25 - 15
3-195507859-G-C c.10592C>G p.T3531S Missense 2/25 - 1
3-195507862-G-T c.10589C>A p.S3530Y Missense 2/25 - 2
3-195507865-A-G c.10586T>C p.V3529A Missense 2/25 - 6
3-195507863-A-ATACGCTGCTTGTGTCTGTTACAGGAAGAGGTGTTGCATGACCTGTGCTTGCGCTGCTTGCGTCTGTTACAGGAAGAGGTGTTGTGTCACCTGTGCTTACGCTGCTAAAGCTTGTTACAGGAAGAGGTGTTGCATGACCTGTAGG c.10587_10588insCCTACAGGTCATGCAACACCTCTTCCTGTAACAAGCTTTAGCAGCGTAAGCACAGGTGACACAACACCTCTTCCTGTAACAGACGCAAGCAGCGCAAGCACAGGTCATGCAACACCTCTTCCTGTAACAGACACAAGCAGCGTA p.V3529_S3530insPTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSV InFrameInsertion 2/25 - 1
3-195507865-A-ACGCTGCTTGTGTCTGTTACAGGAAGAGGTGTTGCATGACCTGTGCTTGCGCTGCTTGCGTCTGTTACAGGAAGAGGTGTTGTGTCACCTGTGCTTACGCTGCTAAAGCTTGTTACAGGAAGAGGTGTTGCATGACCTGTGCTTACGCTGCTTGTGTCTGTTACAGGAAGTGTTGTTGTGTCACCTGTGCTTG c.10585_10586insCAAGCACAGGTGACACAACAACACTTCCTGTAACAGACACAAGCAGCGTAAGCACAGGTCATGCAACACCTCTTCCTGTAACAAGCTTTAGCAGCGTAAGCACAGGTGACACAACACCTCTTCCTGTAACAGACGCAAGCAGCGCAAGCACAGGTCATGCAACACCTCTTCCTGTAACAGACACAAGCAGCG p.S3528_V3529insASTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSS InFrameInsertion 2/25 - 1
3-195507869-A-AGCTTGTGTCTGTTACAGGAAGAGGTGTTGCATGACCTGTGCTTGCGCTGCTTGCGTCTGTTACAGGAAGAGGTGTTGTGTCACCTGTGCTTACGCTGCTAAAGCTTGTTACAGGAAGAGGTGTTGCATGACCTGTGCTTACAAG c.10581_10582insCTTGTAAGCACAGGTCATGCAACACCTCTTCCTGTAACAAGCTTTAGCAGCGTAAGCACAGGTGACACAACACCTCTTCCTGTAACAGACGCAAGCAGCGCAAGCACAGGTCATGCAACACCTCTTCCTGTAACAGACACAAGC p.S3527_S3528insLVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTS InFrameInsertion 2/25 - 1
3-195507870-G-A c.10581C>T p.S3527= Synonymous 2/25 - 1
3-195507874-G-C c.10577C>G p.T3526S Missense 2/25 - 1
3-195507874-G-T c.10577C>A p.T3526N Missense 2/25 - 8
3-195507858-G-GGTGGATACTGAGGAAGTCTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCT c.10592_10593insAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGAGACTTCCTCAGTATCCAC p.S3541_L3542insFSSVSTGDTTPLPVTDASSASTGHATPLPVTETSSVSTGHATPLPVTS InFrameInsertion 2/25 - 1
3-195507875-T-C c.10576A>G p.T3526A Missense 2/25 - 1
3-195507876-G-C c.10575C>G p.D3525E Missense 2/25 - 7
3-195507876-G-T c.10575C>A p.D3525E Missense 2/25 - 5
3-195507878-C-T c.10573G>A p.D3525N Missense 2/25 - 2
3-195507880-G-C c.10571C>G p.T3524S Missense 2/25 - 1
3-195507892-G-A c.10559C>T p.P3520L Missense 2/25 - 1
3-195507877-TCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGCGC-T c.10526_10573del p.G3509_T3524del InFrameDeletion 2/25 - 2
3-195507890-G-GAGGTGTTGTGTCACCTGTGCTTACGCTGCTAAAGCTTGTTACAGGAAGAGGTGTTGCATGACCTGTGCTTACGCTGCTTGTGTCTGTTACAGGTAC c.10560_10561insGTACCTGTAACAGACACAAGCAGCGTAAGCACAGGTCATGCAACACCTCTTCCTGTAACAAGCTTTAGCAGCGTAAGCACAGGTGACACAACACCT p.P3520_L3521insVPVTDTSSVSTGHATPLPVTSFSSVSTGDTTP InFrameInsertion 2/25 - 1
3-195507893-G-GTGTTGCATGACCTGTGCTTGCGCTGCTTGCGTCTGTTACAGGAAGAGGTGTTGTGTCACCTGTGCTTACGCTGCTAAAGCTTGTTACAGGAAGAGGTGTTGCATGACCTGTGCTTACGCTGCTTGTGTCTGTTACAGGAAGTGT c.10557_10558insACACTTCCTGTAACAGACACAAGCAGCGTAAGCACAGGTCATGCAACACCTCTTCCTGTAACAAGCTTTAGCAGCGTAAGCACAGGTGACACAACACCTCTTCCTGTAACAGACGCAAGCAGCGCAAGCACAGGTCATGCAACA p.T3519_P3520insTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHAT InFrameInsertion 2/25 - 4
3-195507894-G-A c.10557C>T p.T3519= Synonymous 2/25 - 1
3-195507894-G-C c.10557C>G p.T3519= Synonymous 2/25 - 1
3-195507894-G-T c.10557C>A p.T3519= Synonymous 2/25 - 1
3-195507895-GT-TG c.10555_10556delinsCA p.T3519H Missense 2/25 - 1
3-195507865-A-ACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTAGCGTGACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGTCGTGGTGTCACCGGTGGATG c.10585_10586insCATCCACCGGTGACACCACGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCTACCCCTCTTCCTGTCACCGACACTTCCTCAG p.S3528_V3529insASTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSS InFrameInsertion 2/25 - 1
3-195507896-T-TTGCATGACCTGTGCTTGCGCTGCTTGCGTCTGTTACAGGAAGAGGTGTTGTGTCACCTGTGCTTACGCTGCTAAAGCTTGTTACAGGAAGAGGTGTTGCATGACCTGTGCTTACGCTGCTTGTGTCTGTTACAGGAAGTGTTGTTGTGTCACC c.10554_10555insGGTGACACAACAACACTTCCTGTAACAGACACAAGCAGCGTAAGCACAGGTCATGCAACACCTCTTCCTGTAACAAGCTTTAGCAGCGTAAGCACAGGTGACACAACACCTCTTCCTGTAACAGACGCAAGCAGCGCAAGCACAGGTCATGCA p.A3518_T3519insGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHA InFrameInsertion 2/25 - 1
3-195507899-C-CATGACCTGTGCTTGCGCTGCTTGCGTCTGTTACAGGAAGAGGTGTTGTGTCACCTGTGCTTACGCTGCTAAAGCTTGTTACAGGAAGAGGTGTTGCATGACCTGTGCTTACGCTGCTTGTGTCTGTTACAGGAAGTGTTGTTGT c.10551_10552insACAACAACACTTCCTGTAACAGACACAAGCAGCGTAAGCACAGGTCATGCAACACCTCTTCCTGTAACAAGCTTTAGCAGCGTAAGCACAGGTGACACAACACCTCTTCCTGTAACAGACGCAAGCAGCGCAAGCACAGGTCAT p.H3517_A3518insTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGH InFrameInsertion 2/25 - 4
3-195507899-C-T c.10552G>A p.A3518T Missense 2/25 - 1
3-195507900-G-A c.10551C>T p.H3517= Synonymous 2/25 - 3
3-195507902-G-C c.10549C>G p.H3517D Missense 2/25 - 1
3-195507902-G-GACCTGTGCTTGCGCTGCTTGCGTCTGTTACAGGAAGAGGTGTTGTGTCACCTGTGCTTACGCTGCTAAAGCTTGTTACAGGAAGAGGTGTTGCATGACCTGTGCTTACGCTGCTTGTGTCTGTTACAGGAAGTGTTGTTGTGTC c.10548_10549insGACACAACAACACTTCCTGTAACAGACACAAGCAGCGTAAGCACAGGTCATGCAACACCTCTTCCTGTAACAAGCTTTAGCAGCGTAAGCACAGGTGACACAACACCTCTTCCTGTAACAGACGCAAGCAGCGCAAGCACAGGT p.G3516_H3517insDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTG InFrameInsertion 2/25 - 4
3-195507905-C-T c.10546G>A p.G3516S Missense 2/25 - 3
3-195507906-G-A c.10545C>T p.T3515= Synonymous 2/25 - 1
3-195507906-G-T c.10545C>A p.T3515= Synonymous 2/25 - 1
3-195507907-G-A c.10544C>T p.T3515I Missense 2/25 - 2
3-195507907-G-C c.10544C>G p.T3515S Missense 2/25 - 1
3-195507908-T-G c.10543A>C p.T3515P Missense 2/25 - 1
3-195507913-G-A c.10538C>T p.A3513V Missense 2/25 - 3
3-195507913-G-T c.10538C>A p.A3513E Missense 2/25 - 1
3-195507858-G-GGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCT c.10592_10593insAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCAC p.S3541_L3542insFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTS InFrameInsertion 2/25 - 3
3-195507894-G-GGTGGCGTGACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGTC c.10556_10557insGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCAC p.T3519_P3520insTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHAT InFrameInsertion 2/25 - 1
3-195507899-C-CGTGACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGTCGTGGT c.10551_10552insACCACGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCAC p.H3517_A3518insTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGH InFrameInsertion 2/25 - 2
3-195507902-G-GACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGTCGTGGTGTC c.10548_10549insGACACCACGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGT p.G3516_H3517insDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTG InFrameInsertion 2/25 - 3
3-195507906-G-GGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGTCGTGGTGTCACCT c.10544_10545insAGGTGACACCACGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCAC p.G3516_H3517insDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTG InFrameInsertion 2/25 - 2
3-195507914-C-A c.10537G>T p.A3513S Missense 2/25 - 1
3-195507915-T-A c.10536A>T p.S3512= Synonymous 2/25 - 7
3-195507915-T-C c.10536A>G p.S3512= Synonymous 2/25 - 10
3-195507915-T-G c.10536A>C p.S3512= Synonymous 2/25 - 7
3-195507916-G-C c.10535C>G p.S3512* Nonsense 2/25 - 2
3-195507916-G-T c.10535C>A p.S3512* Nonsense 2/25 - 2
3-195507918-G-A c.10533C>T p.S3511= Synonymous 2/25 - 1
3-195507918-G-C c.10533C>G p.S3511= Synonymous 2/25 - 1
3-195507918-G-T c.10533C>A p.S3511= Synonymous 2/25 - 1
3-195507923-C-G c.10528G>C p.A3510P Missense 2/25 - 1
3-195507923-C-T c.10528G>A p.A3510T Missense 2/25 - 3
3-195507925-C-T c.10526G>A p.G3509D Missense 2/25 - 9
3-195507926-C-A c.10525G>T p.G3509C Missense 2/25 - 2
3-195507926-C-T c.10525G>A p.G3509S Missense 2/25 - 1
3-195507927-G-A c.10524C>T p.T3508= Synonymous 2/25 - 1
3-195507928-G-A c.10523C>T p.T3508I Missense 2/25 - 1
3-195507928-G-C c.10523C>G p.T3508S Missense 2/25 - 1
3-195507930-G-C c.10521C>G p.V3507= Synonymous 2/25 - 1
3-195507934-G-A c.10517C>T p.P3506L Missense 2/25 - 1
3-195507935-G-A c.10516C>T p.P3506S Missense 2/25 - 3
3-195507940-G-A c.10511C>T p.T3504I Missense 2/25 - 1
3-195507940-G-C c.10511C>G p.T3504S Missense 2/25 - 1
3-195507940-G-GGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAACAGGGGTGGCGTGACCGGTGGA c.10510_10511insTCCACCGGTCACGCCACCCCTGTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCC p.T3504Ifs*36 Frameshift 2/25 - 1
3-195507941-GT-G c.10510del p.T3504Lfs*755 Frameshift 2/25 - 1
3-195507941-T-G c.10510A>C p.T3504P Missense 2/25 - 5
3-195507942-G-A c.10509C>T p.S3503= Synonymous 2/25 - 1
3-195507943-C-G c.10508G>C p.S3503T Missense 2/25 - 3
3-195507945-G-A c.10506C>T p.T3502= Synonymous 2/25 - 1
3-195507945-G-C c.10506C>G p.T3502= Synonymous 2/25 - 1
3-195507945-G-T c.10506C>A p.T3502= Synonymous 2/25 - 1
3-195507946-G-T c.10505C>A p.T3502N Missense 2/25 - 1
3-195507947-T-C c.10504A>G p.T3502A Missense 2/25 - 1
3-195507950-C-G c.10501G>C p.D3501H Missense 2/25 - 1
3-195507953-C-T c.10498G>A p.G3500S Missense 2/25 - 2
3-195507956-T-A c.10495A>T p.T3499S Missense 2/25 - 2
3-195507961-G-A c.10490C>T p.A3497V Missense 2/25 - 4
3-195507963-T-A c.10488A>T p.S3496= Synonymous 2/25 - 1
3-195507963-T-C c.10488A>G p.S3496= Synonymous 2/25 - 1
3-195507963-T-G c.10488A>C p.S3496= Synonymous 2/25 - 1
3-195507967-G-A c.10484C>T p.S3495F Missense 2/25 - 3
3-195507970-G-A c.10481C>T p.P3494L Missense 2/25 - 1
3-195507970-G-C c.10481C>G p.P3494R Missense 2/25 - 1
3-195507970-G-T c.10481C>A p.P3494H Missense 2/25 - 1
3-195507971-G-A c.10480C>T p.P3494S Missense 2/25 - 3
3-195507971-G-C c.10480C>G p.P3494A Missense 2/25 - 2
3-195507971-G-T c.10480C>A p.P3494T Missense 2/25 - 2
3-195507972-G-A c.10479C>T p.I3493= Synonymous 2/25 - 2
3-195507973-A-C c.10478T>G p.I3493S Missense 2/25 - 4
3-195507973-A-T c.10478T>A p.I3493N Missense 2/25 - 1
3-195507979-A-T c.10472T>A p.V3491D Missense 2/25 - 2
3-195507980-C-T c.10471G>A p.V3491I Missense 2/25 - 1
3-195507973-A-ATGGTGACAGGATAATGAGGAAGCAT c.10477_10478insATGCTTCCTCATTATCCTGTCACCA p.I3493Nfs*17 Frameshift 2/25 - 1
3-195507981-A-G c.10470T>C p.H3490= Synonymous 2/25 - 1
3-195507982-T-G c.10469A>C p.H3490P Missense 2/25 - 14
3-195507985-A-C c.10466T>G p.L3489R Missense 2/25 - 1
3-195507985-A-G c.10466T>C p.L3489P Missense 2/25 - 1
3-195507986-G-T c.10465C>A p.L3489I Missense 2/25 - 1
3-195507989-G-A c.10462C>T p.P3488S Missense 2/25 - 1
3-195507989-G-T c.10462C>A p.P3488T Missense 2/25 - 1
3-195507991-G-A c.10460C>T p.T3487I Missense 2/25 - 3
3-195507993-G-A c.10458C>T p.T3486= Synonymous 2/25 - 1
3-195507993-G-C c.10458C>G p.T3486= Synonymous 2/25 - 1
3-195507993-G-T c.10458C>A p.T3486= Synonymous 2/25 - 1
3-195507994-G-T c.10457C>A p.T3486N Missense 2/25 - 1
3-195507995-T-C c.10456A>G p.T3486A Missense 2/25 - 7
3-195507996-G-C c.10455C>G p.H3485Q Missense 2/25 - 1
3-195507996-G-T c.10455C>A p.H3485Q Missense 2/25 - 2
3-195507982-TGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAG-T c.10421_10468del p.P3474_L3489del InFrameDeletion 2/25 - 1
3-195507998-G-C c.10453C>G p.H3485D Missense 2/25 - 5
3-195507999-A-C c.10452T>G p.G3484= Synonymous 2/25 - 5
3-195507999-A-G c.10452T>C p.G3484= Synonymous 2/25 - 2
3-195507999-A-T c.10452T>A p.G3484= Synonymous 2/25 - 6
3-195508000-CC-TT c.10450_10451delinsAA p.G3484N Missense 2/25 - 1
3-195508001-C-T c.10450G>A p.G3484S Missense 2/25 - 1
3-195508002-T-G c.10449A>C p.T3483= Synonymous 2/25 - 1
3-195508004-T-A c.10447A>T p.T3483S Missense 2/25 - 1
3-195508005-A-C c.10446T>G p.S3482= Synonymous 2/25 - 4
3-195508005-A-G c.10446T>C p.S3482= Synonymous 2/25 - 10
3-195508005-A-T c.10446T>A p.S3482= Synonymous 2/25 - 4
3-195508009-G-A c.10442C>T p.A3481V Missense 2/25 - 6
3-195508009-G-T c.10442C>A p.A3481E Missense 2/25 - 2
3-195508010-C-A c.10441G>T p.A3481S Missense 2/25 - 5
3-195508010-C-G c.10441G>C p.A3481P Missense 2/25 - 1
3-195508010-C-T c.10441G>A p.A3481T Missense 2/25 - 1
3-195508012-G-C c.10439C>G p.S3480* Nonsense 2/25 - 1
3-195508012-G-T c.10439C>A p.S3480* Nonsense 2/25 - 1
3-195508014-GG-TT c.10436_10437delinsAA p.S3479* Nonsense 2/25 - 2
3-195508015-G-C c.10436C>G p.S3479C Missense 2/25 - 1
3-195508016-A-T c.10435T>A p.S3479T Missense 2/25 - 1
3-195508017-AGG-A c.10432_10433del p.P3478Ffs*23 Frameshift 2/25 - 2
3-195508019-G-C c.10432C>G p.P3478A Missense 2/25 - 2
3-195508019-G-T c.10432C>A p.P3478T Missense 2/25 - 4
3-195508020-G-A c.10431C>T p.S3477= Synonymous 2/25 - 2
3-195508021-C-A c.10430G>T p.S3477I Missense 2/25 - 2
3-195508021-C-CAT c.10429_10430insAT p.S3477Nfs*783 Frameshift 2/25 - 3
3-195508021-C-CG c.10429_10430insC p.S3477Tfs*25 Frameshift 2/25 - 1
3-195508021-C-T c.10430G>A p.S3477N Missense 2/25 - 3
3-195508022-T-C c.10429A>G p.S3477G Missense 2/25 - 3
3-195508024-G-A c.10427C>T p.T3476I Missense 2/25 - 1
3-195508030-G-T c.10421C>A p.P3474H Missense 2/25 - 5
3-195508031-G-C c.10420C>G p.P3474A Missense 2/25 - 1
3-195508033-A-G c.10418T>C p.L3473P Missense 2/25 - 1
3-195508034-G-C c.10417C>G p.L3473V Missense 2/25 - 1
3-195508036-G-C c.10415C>G p.P3472R Missense 2/25 - 2
3-195508037-G-T c.10414C>A p.P3472T Missense 2/25 - 1
3-195508039-G-C c.10412C>G p.T3471S Missense 2/25 - 2
3-195508043-T-C c.10408A>G p.T3470A Missense 2/25 - 4
3-195508046-C-G c.10405G>C p.D3469H Missense 2/25 - 14
3-195508046-C-T c.10405G>A p.D3469N Missense 2/25 - 1
3-195508049-C-A c.10402G>T p.G3468C Missense 2/25 - 1
3-195508050-T-A c.10401A>T p.T3467= Synonymous 2/25 - 2
3-195508050-T-C c.10401A>G p.T3467= Synonymous 2/25 - 2
3-195508050-T-G c.10401A>C p.T3467= Synonymous 2/25 - 2
3-195508051-G-T c.10400C>A p.T3467K Missense 2/25 - 1
3-195508053-G-A c.10398C>T p.S3466= Synonymous 2/25 - 4
3-195508053-G-T c.10398C>A p.S3466= Synonymous 2/25 - 3
3-195508054-G-C c.10397C>G p.S3466C Missense 2/25 - 1
3-195508056-T-A c.10395A>T p.A3465= Synonymous 2/25 - 1
3-195508057-G-A c.10394C>T p.A3465V Missense 2/25 - 2
3-195508060-G-A c.10391C>T p.S3464L Missense 2/25 - 1
3-195508060-TG-T c.10391del p.S3464* Frameshift 2/25 - 3
3-195508062-AGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTG-A c.10343_10389del p.S3448Ffs*6 Frameshift 2/25 - 1
3-195508066-G-A c.10385C>T p.T3462I Missense 2/25 - 2
3-195508066-G-T c.10385C>A p.T3462N Missense 2/25 - 3
3-195508067-T-G c.10384A>C p.T3462P Missense 2/25 - 5
3-195508069-T-A c.10382A>T p.D3461V Missense 2/25 - 1
3-195508069-T-C c.10382A>G p.D3461G Missense 2/25 - 3
3-195508070-C-T c.10381G>A p.D3461N Missense 2/25 - 5
3-195508074-TGAC-T c.10375_10377del p.V3459del InFrameDeletion 2/25 - 1
3-195508078-G-A c.10373C>T p.P3458L Missense 2/25 - 4
3-195508085-G-A c.10366C>T p.P3456S Missense 2/25 - 2
3-195508086-G-C c.10365C>G p.T3455= Synonymous 2/25 - 1
3-195508089-G-A c.10362C>T p.T3454= Synonymous 2/25 - 1
3-195508089-G-C c.10362C>G p.T3454= Synonymous 2/25 - 1
3-195508089-G-T c.10362C>A p.T3454= Synonymous 2/25 - 1
3-195508091-T-C c.10360A>G p.T3454A Missense 2/25 - 13
3-195508091-T-G c.10360A>C p.T3454P Missense 2/25 - 3
3-195508092-G-A c.10359C>T p.H3453= Synonymous 2/25 - 2
3-195508092-G-C c.10359C>G p.H3453Q Missense 2/25 - 2
3-195508094-G-C c.10357C>G p.H3453D Missense 2/25 - 3
3-195508098-T-G c.10353A>C p.T3451= Synonymous 2/25 - 1
3-195508101-A-C c.10350T>G p.S3450= Synonymous 2/25 - 5
3-195508101-A-G c.10350T>C p.S3450= Synonymous 2/25 - 10
3-195508101-A-T c.10350T>A p.S3450= Synonymous 2/25 - 5
3-195508105-G-A c.10346C>T p.A3449V Missense 2/25 - 1
3-195508108-G-A c.10343C>T p.S3448L Missense 2/25 - 18
3-195508108-G-C c.10343C>G p.S3448* Nonsense 2/25 - 1
3-195508108-G-T c.10343C>A p.S3448* Nonsense 2/25 - 1
3-195508111-G-A c.10340C>T p.S3447F Missense 2/25 - 3
3-195508111-G-T c.10340C>A p.S3447Y Missense 2/25 - 1
3-195508113-A-C c.10338T>G p.T3446= Synonymous 2/25 - 1
3-195508113-A-G c.10338T>C p.T3446= Synonymous 2/25 - 1
3-195508113-A-T c.10338T>A p.T3446= Synonymous 2/25 - 1
3-195508101-A-AGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTG c.10349_10350insCACAGGTCACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATC p.T3460_D3461insSPSSASTGHTTPLPVT InFrameInsertion 2/25 - 1
3-195508108-G-GAGGAAGGGCTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTA c.10342_10343insTAGCATCCACAGGTGACACCACCCGTCTTCCTGTCACCAGCCCTTCCT p.S3447_S3448insLASTGDTTRLPVTSPS InFrameInsertion 2/25 - 2
3-195508108-G-GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTATGACCTGTGGATGCTA c.10342_10343insTAGCATCCACAGGTCATACCACCCCTCTTCCTGTCACCAGCCCTTCCT p.S3447_S3448insLASTGHTTPLPVTSPS InFrameInsertion 2/25 - 2
3-195508108-G-GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA c.10342_10343insTAGCATCCACAGGTCACACCACCCCTCTTCCTGTCACCAGCCCTTCCT p.S3447_S3448insLASTGHTTPLPVTSPS InFrameInsertion 2/25 - 3
3-195508115-T-G c.10336A>C p.T3446P Missense 2/25 - 3
3-195508117-C-T c.10334G>A p.S3445N Missense 2/25 - 1
3-195508118-T-C c.10333A>G p.S3445G Missense 2/25 - 2
3-195508121-T-C c.10330A>G p.T3444A Missense 2/25 - 1
3-195508122-G-A c.10329C>T p.V3443= Synonymous 2/25 - 1
3-195508125-A-C c.10326T>G p.P3442= Synonymous 2/25 - 1
3-195508125-A-G c.10326T>C p.P3442= Synonymous 2/25 - 1
3-195508125-A-T c.10326T>A p.P3442= Synonymous 2/25 - 1
3-195508127-G-C c.10324C>G p.P3442A Missense 2/25 - 8
3-195508128-A-C c.10323T>G p.V3441= Synonymous 2/25 - 3
3-195508128-A-G c.10323T>C p.V3441= Synonymous 2/25 - 2
3-195508128-A-T c.10323T>A p.V3441= Synonymous 2/25 - 2
3-195508130-C-A c.10321G>T p.V3441F Missense 2/25 - 1
3-195508130-C-G c.10321G>C p.V3441L Missense 2/25 - 19
3-195508131-CA-C c.10320del p.V3441Ffs*818 Frameshift 2/25 - 1
3-195508133-G-A c.10318C>T p.P3440S Missense 2/25 - 8
3-195508133-G-GTGTTGCATGACCTGTGCTTGCGCTGCTTGTGCTTGTTACAGGAAGGCT c.10317_10318insAGCCTTCCTGTAACAAGCACAAGCAGCGCAAGCACAGGTCATGCAACA p.T3439_P3440insSLPVTSTSSASTGHAT InFrameInsertion 2/25 - 2
3-195508139-C-T c.10312G>A p.A3438T Missense 2/25 - 2
3-195508142-G-C c.10309C>G p.H3437D Missense 2/25 - 2
3-195508144-C-A c.10307G>T p.G3436V Missense 2/25 - 1
3-195508144-C-T c.10307G>A p.G3436D Missense 2/25 - 1
3-195508130-CAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGTGCTGGTGACAGGAAG-C c.10273_10320del p.L3425_P3440del InFrameDeletion 2/25 - 1
3-195508146-G-A c.10305C>T p.T3435= Synonymous 2/25 - 3
3-195508146-G-C c.10305C>G p.T3435= Synonymous 2/25 - 1
3-195508146-G-T c.10305C>A p.T3435= Synonymous 2/25 - 4
3-195508149-G-A c.10302C>T p.S3434= Synonymous 2/25 - 1
3-195508150-G-A c.10301C>T p.S3434F Missense 2/25 - 5
3-195508153-G-A c.10298C>T p.A3433V Missense 2/25 - 1
3-195508156-G-A c.10295C>T p.S3432L Missense 2/25 - 3
3-195508157-A-C c.10294T>G p.S3432A Missense 2/25 - 1
3-195508158-G-A c.10293C>T p.S3431= Synonymous 2/25 - 2
3-195508158-G-C c.10293C>G p.S3431= Synonymous 2/25 - 1
3-195508158-G-T c.10293C>A p.S3431= Synonymous 2/25 - 2
3-195508159-G-A c.10292C>T p.S3431F Missense 2/25 - 3
3-195508146-GGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT-G c.10257_10304del p.L3425_P3440del InFrameDeletion 2/25 - 2
3-195508163-T-G c.10288A>C p.T3430P Missense 2/25 - 10
3-195508164-G-A c.10287C>T p.S3429= Synonymous 2/25 - 1
3-195508165-C-T c.10286G>A p.S3429N Missense 2/25 - 3
3-195508166-T-C c.10285A>G p.S3429G Missense 2/25 - 2
3-195508167-G-A c.10284C>T p.T3428= Synonymous 2/25 - 2
3-195508167-G-C c.10284C>G p.T3428= Synonymous 2/25 - 1
3-195508167-G-T c.10284C>A p.T3428= Synonymous 2/25 - 1
3-195508174-G-A c.10277C>T p.P3426L Missense 2/25 - 1
3-195508174-G-T c.10277C>A p.P3426H Missense 2/25 - 2
3-195508175-G-C c.10276C>G p.P3426A Missense 2/25 - 5
3-195508177-A-G c.10274T>C p.L3425P Missense 2/25 - 1
3-195508178-G-A c.10273C>T p.L3425F Missense 2/25 - 1
3-195508178-G-C c.10273C>G p.L3425V Missense 2/25 - 8
3-195508180-G-A c.10271C>T p.P3424L Missense 2/25 - 2
3-195508181-G-A c.10270C>T p.P3424S Missense 2/25 - 1
3-195508182-G-C c.10269C>G p.T3423= Synonymous 2/25 - 1
3-195508183-G-T c.10268C>A p.T3423N Missense 2/25 - 1
3-195508188-G-A c.10263C>T p.H3421= Synonymous 2/25 - 3
3-195508188-G-C c.10263C>G p.H3421Q Missense 2/25 - 6
3-195508188-G-T c.10263C>A p.H3421Q Missense 2/25 - 2
3-195508188-G-GTCGGTGACAGGAAGAGGGGTGGCC c.10262_10263insGGCCACCCCTCTTCCTGTCACCGA p.H3421delinsQATPLPVTD MultiAAMissense 2/25 - 3
3-195508190-G-C c.10261C>G p.H3421D Missense 2/25 - 1
3-195508194-T-A c.10257A>T p.T3419= Synonymous 2/25 - 1
3-195508194-T-C c.10257A>G p.T3419= Synonymous 2/25 - 1
3-195508194-T-G c.10257A>C p.T3419= Synonymous 2/25 - 2
3-195508195-G-T c.10256C>A p.T3419K Missense 2/25 - 1
3-195508196-TG-T c.10254del p.T3419Qfs*840 Frameshift 2/25 - 1
3-195508199-A-T c.10252T>A p.S3418T Missense 2/25 - 1
3-195508202-C-A c.10249G>T p.A3417S Missense 2/25 - 1
3-195508203-T-C c.10248A>G p.S3416= Synonymous 2/25 - 1
3-195508205-A-C c.10246T>G p.S3416A Missense 2/25 - 1
3-195508207-G-A c.10244C>T p.S3415F Missense 2/25 - 2
3-195508210-AGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATACTGAGGAAGTGTTGGTGAC-A c.10183_10241del p.V3395Ffs*55 InFrameDeletion 2/25 - 1
3-195508210-G-T c.10241C>A p.P3414H Missense 2/25 - 2
3-195508201-GCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA-G c.10202_10249del p.V3401_S3416del InFrameDeletion 2/25 - 2
3-195508211-G-C c.10240C>G p.P3414A Missense 2/25 - 1
3-195508211-G-T c.10240C>A p.P3414T Missense 2/25 - 5
3-195508212-G-A c.10239C>T p.S3413= Synonymous 2/25 - 1
3-195508213-C-T c.10238G>A p.S3413N Missense 2/25 - 1
3-195508214-T-C c.10237A>G p.S3413G Missense 2/25 - 1
3-195508215-A-C c.10236T>G p.T3412= Synonymous 2/25 - 4
3-195508215-A-G c.10236T>C p.T3412= Synonymous 2/25 - 4
3-195508215-A-T c.10236T>A p.T3412= Synonymous 2/25 - 2
3-195508218-G-A c.10233C>T p.V3411= Synonymous 2/25 - 1
3-195508218-G-C c.10233C>G p.V3411= Synonymous 2/25 - 1
3-195508218-G-T c.10233C>A p.V3411= Synonymous 2/25 - 1
3-195508220-C-G c.10231G>C p.V3411L Missense 2/25 - 4
3-195508222-G-T c.10229C>A p.P3410H Missense 2/25 - 2
3-195508223-G-A c.10228C>T p.P3410S Missense 2/25 - 4
3-195508226-G-C c.10225C>G p.L3409V Missense 2/25 - 1
3-195508227-A-C c.10224T>G p.P3408= Synonymous 2/25 - 1
3-195508227-A-G c.10224T>C p.P3408= Synonymous 2/25 - 1
3-195508227-A-T c.10224T>A p.P3408= Synonymous 2/25 - 1
3-195508228-G-C c.10223C>G p.P3408R Missense 2/25 - 5
3-195508230-C-A c.10221G>T p.M3407I Missense 2/25 - 3
3-195508230-C-G c.10221G>C p.M3407I Missense 2/25 - 5
3-195508230-C-T c.10221G>A p.M3407I Missense 2/25 - 3
3-195508231-A-G c.10220T>C p.M3407T Missense 2/25 - 6
3-195508233-GG-CA c.10217_10218delinsTG p.T3406M Missense 2/25 - 1
3-195508234-G-A c.10217C>T p.T3406I Missense 2/25 - 1
3-195508235-T-C c.10216A>G p.T3406A Missense 2/25 - 4
3-195508238-C-G c.10213G>C p.D3405H Missense 2/25 - 6
3-195508242-T-A c.10209A>T p.T3403= Synonymous 2/25 - 2
3-195508242-T-C c.10209A>G p.T3403= Synonymous 2/25 - 2
3-195508242-T-G c.10209A>C p.T3403= Synonymous 2/25 - 2
3-195508246-G-T c.10205C>A p.S3402Y Missense 2/25 - 1
3-195508248-T-A c.10203A>T p.V3401= Synonymous 2/25 - 1
3-195508248-T-C c.10203A>G p.V3401= Synonymous 2/25 - 1
3-195508248-T-G c.10203A>C p.V3401= Synonymous 2/25 - 1
3-195508249-A-G c.10202T>C p.V3401A Missense 2/25 - 14
3-195508250-C-T c.10201G>A p.V3401I Missense 2/25 - 3
3-195508252-G-A c.10199C>T p.S3400L Missense 2/25 - 1
3-195508254-G-A c.10197C>T p.S3399= Synonymous 2/25 - 1
3-195508258-G-A c.10193C>T p.T3398I Missense 2/25 - 1
3-195508261-T-A c.10190A>T p.N3397I Missense 2/25 - 1
3-195508261-T-C c.10190A>G p.N3397S Missense 2/25 - 5
3-195508262-T-C c.10189A>G p.N3397D Missense 2/25 - 3
3-195508274-G-C c.10177C>G p.L3393V Missense 2/25 - 1
3-195508276-G-A c.10175C>T p.P3392L Missense 2/25 - 3
3-195508276-G-C c.10175C>G p.P3392R Missense 2/25 - 1
3-195508276-GG-AA c.10174_10175delinsTT p.P3392F Missense 2/25 - 1
3-195508276-G-T c.10175C>A p.P3392H Missense 2/25 - 1
3-195508277-G-A c.10174C>T p.P3392S Missense 2/25 - 3
3-195508279-G-T c.10172C>A p.T3391N Missense 2/25 - 1
3-195508282-G-A c.10169C>T p.A3390V Missense 2/25 - 1
3-195508286-G-A c.10165C>T p.Q3389* Nonsense 2/25 - 1
3-195508289-C-A c.10162G>T p.G3388C Missense 2/25 - 1
3-195508289-C-T c.10162G>A p.G3388S Missense 2/25 - 1
3-195508291-G-A c.10160C>T p.T3387I Missense 2/25 - 1
3-195508298-C-A c.10153G>T p.A3385S Missense 2/25 - 2
3-195508298-C-T c.10153G>A p.A3385T Missense 2/25 - 2
3-195508299-C-T c.10152G>A p.S3384= Synonymous 2/25 - 1
3-195508300-G-A c.10151C>T p.S3384L Missense 2/25 - 2
3-195508303-G-A c.10148C>T p.S3383F Missense 2/25 - 2
3-195508306-A-G c.10145T>C p.I3382T Missense 2/25 - 1
3-195508299-CGAGGAAATGTCGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCT-C c.10104_10151del p.D3373_G3388del InFrameDeletion 2/25 - 1
3-195508307-T-C c.10144A>G p.I3382V Missense 2/25 - 2
3-195508307-T-G c.10144A>C p.I3382L Missense 2/25 - 4
3-195508308-G-C c.10143C>G p.D3381E Missense 2/25 - 1
3-195508315-A-G c.10136T>C p.V3379A Missense 2/25 - 1
3-195508318-G-A c.10133C>T p.P3378L Missense 2/25 - 1
3-195508324-C-G c.10127G>C p.R3376P Missense 2/25 - 1
3-195508324-C-T c.10127G>A p.R3376H Missense 2/25 - 5
3-195508326-G-A c.10125C>T p.T3375= Synonymous 2/25 - 1
3-195508326-G-C c.10125C>G p.T3375= Synonymous 2/25 - 1
3-195508326-G-T c.10125C>A p.T3375= Synonymous 2/25 - 1
3-195508335-A-T c.10116T>A p.G3372= Synonymous 2/25 - 1
3-195508336-C-T c.10115G>A p.G3372D Missense 2/25 - 8
3-195508337-C-A c.10114G>T p.G3372C Missense 2/25 - 1
3-195508342-G-A c.10109C>T p.S3370F Missense 2/25 - 2
3-195508343-A-T c.10108T>A p.S3370T Missense 2/25 - 10
3-195508344-A-C c.10107T>G p.A3369= Synonymous 2/25 - 2
3-195508344-A-G c.10107T>C p.A3369= Synonymous 2/25 - 2
3-195508344-A-T c.10107T>A p.A3369= Synonymous 2/25 - 3
3-195508346-C-A c.10105G>T p.A3369S Missense 2/25 - 1
3-195508348-G-A c.10103C>T p.S3368L Missense 2/25 - 2
3-195508351-G-T c.10100C>A p.S3367Y Missense 2/25 - 1
3-195508354-A-G c.10097T>C p.L3366P Missense 2/25 - 1
3-195508358-C-T c.10093G>A p.G3365S Missense 2/25 - 3
3-195508364-C-G c.10087G>C p.V3363L Missense 2/25 - 1
3-195508364-C-T c.10087G>A p.V3363I Missense 2/25 - 2
3-195508367-G-A c.10084C>T p.P3362S Missense 2/25 - 2
3-195508373-G-A c.10078C>T p.P3360S Missense 2/25 - 1
3-195508371-AG-A c.10079del p.P3360Lfs*899 Frameshift 2/25 - 1
3-195508378-G-C c.10073C>G p.A3358G Missense 2/25 - 1
3-195508376-TGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGCACAG-T c.10031_10074del p.P3344Hfs*15 Frameshift 2/25 - 1
3-195508379-C-T c.10072G>A p.A3358T Missense 2/25 - 3
3-195508380-G-A c.10071C>T p.H3357= Synonymous 2/25 - 2
3-195508382-G-A c.10069C>T p.H3357Y Missense 2/25 - 1
3-195508383-A-T c.10068T>A p.G3356= Synonymous 2/25 - 2
3-195508385-C-A c.10066G>T p.G3356C Missense 2/25 - 3
3-195508385-C-G c.10066G>C p.G3356R Missense 2/25 - 1
3-195508388-T-A c.10063A>T p.T3355S Missense 2/25 - 1
3-195508390-G-A c.10061C>T p.S3354F Missense 2/25 - 1
3-195508357-C-CCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGT c.10093_10094insACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCG p.T3364_G3365insDTSSASTGHATPLPVT InFrameInsertion 2/25 - 2
3-195508393-A-G c.10058T>C p.V3353A Missense 2/25 - 11
3-195508396-G-A c.10055C>T p.S3352L Missense 2/25 - 1
3-195508396-G-T c.10055C>A p.S3352* Nonsense 2/25 - 1
3-195508402-G-T c.10049C>A p.T3350N Missense 2/25 - 7
3-195508403-T-C c.10048A>G p.T3350A Missense 2/25 - 4
3-195508406-C-T c.10045G>A p.D3349N Missense 2/25 - 7
3-195508406-TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC-T c.9998_10045del p.S3333_D3349delinsN MultiAAMissense 2/25 - 3
3-195508408-G-C c.10043C>G p.T3348S Missense 2/25 - 1
3-195508409-T-A c.10042A>T p.T3348S Missense 2/25 - 1
3-195508411-A-C c.10040T>G p.V3347G Missense 2/25 - 1
3-195508414-G-GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTCTGGATACTGAGGAAGTGTTGGTGACAA c.10036_10037insTTGTCACCAACACTTCCTCAGTATCCAGAGGTCACGCCACCTCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTC p.V3345_P3346insLVTNTSSVSRGHATSLPVTSLSSVSTGDTTPL InFrameInsertion 2/25 - 1
3-195508415-G-A c.10036C>T p.P3346S Missense 2/25 - 1
3-195508415-G-T c.10036C>A p.P3346T Missense 2/25 - 2
3-195508414-GGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAT-G c.9989_10036del p.H3330_V3345del InFrameDeletion 2/25 - 1
3-195508416-C-A c.10035G>T p.V3345= Synonymous 2/25 - 6
3-195508416-C-G c.10035G>C p.V3345= Synonymous 2/25 - 2
3-195508416-C-T c.10035G>A p.V3345= Synonymous 2/25 - 6
3-195508418-C-A c.10033G>T p.V3345L Missense 2/25 - 2
3-195508418-C-G c.10033G>C p.V3345L Missense 2/25 - 8
3-195508418-C-T c.10033G>A p.V3345M Missense 2/25 - 3
3-195508420-G-C c.10031C>G p.P3344R Missense 2/25 - 1
3-195508422-G-A c.10029C>T p.T3343= Synonymous 2/25 - 1
3-195508422-G-C c.10029C>G p.T3343= Synonymous 2/25 - 1
3-195508422-G-T c.10029C>A p.T3343= Synonymous 2/25 - 1
3-195508423-G-C c.10028C>G p.T3343S Missense 2/25 - 1
3-195508424-T-A c.10027A>T p.T3343S Missense 2/25 - 2
3-195508427-T-C c.10024A>G p.T3342A Missense 2/25 - 1
3-195508428-G-T c.10023C>A p.D3341E Missense 2/25 - 1
3-195508430-C-G c.10021G>C p.D3341H Missense 2/25 - 3
3-195508437-G-A c.10014C>T p.S3338= Synonymous 2/25 - 1
3-195508443-T-A