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 |