19-17003789-T-A |
c.*130A>T |
- |
3-UTRSNV |
42/42 |
- |
13 |
19-17003789-T-G |
c.*130A>C |
- |
3-UTRSNV |
42/42 |
- |
13 |
19-17003921-A-C |
c.5656T>G |
p.*1886Eext*? |
Missense |
42/42 |
- |
1 |
19-17003921-A-G |
c.5656T>C |
p.*1886Qext*? |
Missense |
42/42 |
- |
1 |
19-17003925-C-A |
c.5652G>T |
p.L1884F |
Missense |
42/42 |
- |
1 |
19-17003925-C-G |
c.5652G>C |
p.L1884F |
Missense |
42/42 |
- |
2 |
19-17003931-G-C |
c.5646C>G |
p.C1882W |
Missense |
42/42 |
- |
2 |
19-17003939-T-C |
c.5638A>G |
p.N1880D |
Missense |
42/42 |
- |
3 |
19-17003948-A-G |
c.5629T>C |
p.W1877R |
Missense |
42/42 |
- |
1 |
19-17003949-T-G |
c.5628A>C |
p.L1876F |
Missense |
42/42 |
- |
1 |
19-17003952-A-C |
c.5625T>G |
p.G1875= |
Synonymous |
42/42 |
- |
3 |
19-17003952-A-G |
c.5625T>C |
p.G1875= |
Synonymous |
42/42 |
- |
1 |
19-17003952-A-T |
c.5625T>A |
p.G1875= |
Synonymous |
42/42 |
- |
1 |
19-17003954-C-T |
c.5623G>A |
p.G1875S |
Missense |
42/42 |
- |
1 |
19-17003962-C-T |
c.5615G>A |
p.G1872E |
Missense |
42/42 |
- |
1 |
19-17003963-C-T |
c.5614G>A |
p.G1872R |
Missense |
42/42 |
- |
1 |
19-17003968-C-T |
c.5609G>A |
p.S1870N |
Missense |
42/42 |
- |
1 |
19-17003977-G-A |
c.5600C>T |
p.A1867V |
Missense |
42/42 |
- |
1 |
19-17003978-C-T |
c.5599G>A |
p.A1867T |
Missense |
42/42 |
- |
1 |
19-17003979-T-A |
c.5598A>T |
p.P1866= |
Synonymous |
42/42 |
- |
2 |
19-17003979-T-C |
c.5598A>G |
p.P1866= |
Synonymous |
42/42 |
- |
1 |
19-17003979-T-G |
c.5598A>C |
p.P1866= |
Synonymous |
42/42 |
- |
1 |
19-17003983-C-A |
c.5594G>T |
p.S1865I |
Missense |
42/42 |
- |
1 |
19-17003983-CT-GG |
c.5593_5594delinsCC |
p.S1865P |
Missense |
42/42 |
- |
1 |
19-17003985-G-A |
c.5592C>T |
p.Y1864= |
Synonymous |
42/42 |
- |
1 |
19-17003986-T-C |
c.5591A>G |
p.Y1864C |
Missense |
42/42 |
- |
1 |
19-17003989-A-G |
c.5588T>C |
p.V1863A |
Missense |
42/42 |
- |
1 |
19-17003990-C-A |
c.5587G>T |
p.V1863F |
Missense |
42/42 |
- |
1 |
19-17003990-C-T |
c.5587G>A |
p.V1863I |
Missense |
42/42 |
- |
1 |
19-17003991-G-A |
c.5586C>T |
p.F1862= |
Synonymous |
42/42 |
- |
1 |
19-17003993-A-C |
c.5584T>G |
p.F1862V |
Missense |
42/42 |
- |
1 |
19-17003992-AAG-A |
c.5583_5584del |
p.F1862Rfs*61 |
Frameshift |
42/42 |
- |
1 |
19-17003994-G-A |
c.5583C>T |
p.V1861= |
Synonymous |
42/42 |
- |
3 |
19-17003994-G-C |
c.5583C>G |
p.V1861= |
Synonymous |
42/42 |
- |
4 |
19-17003994-G-T |
c.5583C>A |
p.V1861= |
Synonymous |
42/42 |
- |
3 |
19-17004004-A-C |
c.5573T>G |
p.L1858R |
Missense |
42/42 |
- |
1 |
19-17004007-A-G |
c.5570T>C |
p.L1857P |
Missense |
42/42 |
- |
1 |
19-17004013-G-A |
c.5564C>T |
p.P1855L |
Missense |
42/42 |
- |
4 |
19-17004018-G-C |
c.5559C>G |
p.H1853Q |
Missense |
42/42 |
- |
1 |
19-17004023-C-T |
c.5554G>A |
p.A1852T |
Missense |
42/42 |
- |
1 |
19-17004034-C-T |
c.5543G>A |
p.R1848Q |
Missense |
42/42 |
- |
1 |
19-17004035-G-A |
c.5542C>T |
p.R1848W |
Missense |
42/42 |
- |
1 |
19-17004044-G-A |
c.5533C>T |
p.H1845Y |
Missense |
42/42 |
- |
1 |
19-17004047-T-C |
c.5530A>G |
p.R1844G |
Missense |
42/42 |
- |
1 |
19-17004050-G-A |
c.5527C>T |
p.Q1843* |
Nonsense |
42/42 |
- |
1 |
19-17004057-C-T |
c.5520G>A |
p.P1840= |
Synonymous |
42/42 |
- |
1 |
19-17004058-G-A |
c.5519C>T |
p.P1840L |
Missense |
42/42 |
- |
1 |
19-17004059-G-A |
c.5518C>T |
p.P1840S |
Missense |
42/42 |
- |
2 |
19-17004063-C-G |
c.5514G>C |
p.Q1838H |
Missense |
42/42 |
- |
1 |
19-17004076-T-C |
c.5501A>G |
p.H1834R |
Missense |
42/42 |
- |
1 |
19-17004078-G-T |
c.5499C>A |
p.F1833L |
Missense |
42/42 |
- |
1 |
19-17004078-G-C |
c.5499C>G |
p.F1833L |
Missense |
42/42 |
- |
1 |
19-17004081-C-A |
c.5496G>T |
p.P1832= |
Synonymous |
42/42 |
- |
1 |
19-17004081-C-G |
c.5496G>C |
p.P1832= |
Synonymous |
42/42 |
- |
2 |
19-17004081-C-T |
c.5496G>A |
p.P1832= |
Synonymous |
42/42 |
- |
2 |
19-17004084-G-A |
c.5493C>T |
p.S1831= |
Synonymous |
42/42 |
- |
2 |
19-17004089-C-T |
c.5488G>A |
p.A1830T |
Missense |
42/42 |
- |
5 |
19-17004107-C-T |
c.5470G>A |
p.E1824K |
Missense |
42/42 |
- |
2 |
19-17004113-T-C |
c.5464A>G |
p.N1822D |
Missense |
42/42 |
- |
1 |
19-17004116-C-G |
c.5461G>C |
p.G1821R |
Missense |
42/42 |
- |
1 |
19-17004116-C-T |
c.5461G>A |
p.G1821R |
Missense |
42/42 |
- |
2 |
19-17004133-C-T |
c.5444G>A |
p.R1815Q |
Missense |
42/42 |
- |
2 |
19-17005137-T-C |
c.5427-987A>G |
- |
intron_variant |
- |
41/41 |
1 |
19-17005151-C-A |
c.5427-1001G>T |
- |
intron_variant |
- |
41/41 |
1 |
19-17005151-C-T |
c.5427-1001G>A |
- |
intron_variant |
- |
41/41 |
1 |
19-17005182-A-G |
c.5427-1032T>C |
- |
intron_variant |
- |
41/41 |
1 |
19-17005184-G-A |
c.5427-1034C>T |
- |
intron_variant |
- |
41/41 |
1 |
19-17005184-G-T |
c.5427-1034C>A |
- |
intron_variant |
- |
41/41 |
1 |
19-17005387-T-A |
c.5427-1237A>T |
- |
intron_variant |
- |
41/41 |
1 |
19-17005486-A-G |
c.5427-1336T>C |
- |
intron_variant |
- |
41/41 |
1 |
19-17006506-C-G |
c.5426+481G>C |
- |
IntronicSNV |
- |
41/41 |
1 |
19-17006697-C-A |
c.5426+290G>T |
- |
intron_variant |
- |
41/41 |
2 |
19-17006697-C-T |
c.5426+290G>A |
- |
intron_variant |
- |
41/41 |
2 |
19-17006700-G-A |
c.5426+287C>T |
- |
intron_variant |
- |
41/41 |
4 |
19-17006700-G-T |
c.5426+287C>A |
- |
intron_variant |
- |
41/41 |
4 |
19-17006716-A-G |
c.5426+271T>C |
- |
intron_variant |
- |
41/41 |
1 |
19-17006736-A-G |
c.5426+251T>C |
- |
intron_variant |
- |
41/41 |
3 |
19-17006714-GCA-G |
c.5426+271_5426+272del |
- |
IntronicDeletion |
- |
41/41 |
1 |
19-17006738-A-G |
c.5426+249T>C |
- |
IntronicSNV |
- |
41/41 |
4 |
19-17006747-T-C |
c.5426+240A>G |
- |
IntronicSNV |
- |
41/41 |
1 |
19-17006787-G-A |
c.5426+200C>T |
- |
intron_variant |
- |
41/41 |
3 |
19-17006873-G-A |
c.5426+114C>T |
- |
IntronicSNV |
- |
41/41 |
2 |
19-17006878-G-GGCAC |
c.5426+248_5426+249insCGTG |
- |
IntronicInsertion |
- |
41/41 |
1 |
19-17006878-G-GGCACAC |
c.5426+248_5426+249insCGTGTG |
- |
IntronicInsertion |
- |
41/41 |
1 |
19-17006878-G-GGCACACAC |
c.5426+248_5426+249insCGTGTGTG |
- |
IntronicInsertion |
- |
41/41 |
1 |
19-17006878-G-GGCACACACACACGC |
c.5426+248_5426+249insCGCGTGTGTGTGTG |
- |
IntronicInsertion |
- |
41/41 |
1 |
19-17006878-G-GGCACACACACGC |
c.5426+248_5426+249insCGCGTGTGTGTG |
- |
IntronicInsertion |
- |
41/41 |
1 |
19-17006878-G-GGCACACACGC |
c.5426+248_5426+249insCGCGTGTGTG |
- |
IntronicInsertion |
- |
41/41 |
1 |
19-17006878-G-GGCACACGC |
c.5426+248_5426+249insCGCGTGTG |
- |
IntronicInsertion |
- |
41/41 |
1 |
19-17006878-G-GGCACACGCGC |
c.5426+248_5426+249insCGCGCGTGTG |
- |
IntronicInsertion |
- |
41/41 |
1 |
19-17006878-G-GGCACACGCGCGC |
c.5426+248_5426+249insCGCGCGCGTGTG |
- |
IntronicInsertion |
- |
41/41 |
1 |
19-17006878-G-GGCACGC |
c.5426+248_5426+249insCGCGTG |
- |
IntronicInsertion |
- |
41/41 |
1 |
19-17006878-G-GGCACGCGC |
c.5426+248_5426+249insCGCGCGTG |
- |
IntronicInsertion |
- |
41/41 |
1 |
19-17006947-A-C |
c.5426+40T>G |
- |
intron_variant |
- |
41/41 |
1 |
19-17006953-T-C |
c.5426+34A>G |
- |
IntronicSNV |
- |
41/41 |
1 |
19-17006987-C-A |
c.5426G>T |
p.R1809M |
Missense |
41/42 |
- |
1 |
19-17007002-C-T |
c.5411G>A |
p.G1804E |
Missense |
41/42 |
- |
1 |
19-17007014-G-T |
c.5399C>A |
p.P1800H |
Missense |
41/42 |
- |
1 |
19-17007015-G-A |
c.5398C>T |
p.P1800S |
Missense |
41/42 |
- |
1 |
19-17007018-C-G |
c.5395G>C |
p.D1799H |
Missense |
41/42 |
- |
1 |
19-17007018-C-T |
c.5395G>A |
p.D1799N |
Missense |
41/42 |
- |
1 |
19-17004049-T-C |
c.5528A>G |
p.Q1843R |
Missense |
42/42 |
- |
24 |
19-17007026-T-C |
c.5528A>G |
p.Q1843R |
Missense |
42/42 |
- |
9 |
19-17007027-C-G |
c.5386G>C |
p.E1796Q |
Missense |
41/42 |
- |
1 |
19-17007038-C-T |
c.5375G>A |
p.G1792D |
Missense |
41/42 |
- |
2 |
19-17007039-C-T |
c.5374G>A |
p.G1792S |
Missense |
41/42 |
- |
1 |
19-17007040-G-A |
c.5373C>T |
p.A1791= |
Synonymous |
41/42 |
- |
1 |
19-17007040-G-C |
c.5373C>G |
p.A1791= |
Synonymous |
41/42 |
- |
1 |
19-17007040-G-T |
c.5373C>A |
p.A1791= |
Synonymous |
41/42 |
- |
1 |
19-17007058-G-A |
c.5355C>T |
p.D1785= |
Synonymous |
41/42 |
- |
3 |
19-17007059-T-A |
c.5354A>T |
p.D1785V |
Missense |
41/42 |
- |
1 |
19-17007065-T-G |
c.5348A>C |
p.Q1783P |
Missense |
41/42 |
- |
1 |
19-17007067-T-A |
c.5346A>T |
p.L1782F |
Missense |
41/42 |
- |
1 |
19-17007067-T-G |
c.5346A>C |
p.L1782F |
Missense |
41/42 |
- |
1 |
19-17007068-A-G |
c.5345T>C |
p.L1782S |
Missense |
41/42 |
- |
1 |
19-17007071-G-C |
c.5342C>G |
p.P1781R |
Missense |
41/42 |
- |
4 |
19-17007075-C-G |
c.5338G>C |
p.G1780R |
Missense |
41/42 |
- |
4 |
19-17007075-C-T |
c.5338G>A |
p.G1780R |
Missense |
41/42 |
- |
5 |
19-17007076-C-T |
c.5337G>A |
p.P1779= |
Synonymous |
41/42 |
- |
2 |
19-17007077-G-A |
c.5336C>T |
p.P1779L |
Missense |
41/42 |
- |
3 |
19-17007080-G-A |
c.5333C>T |
p.A1778V |
Missense |
41/42 |
- |
1 |
19-17007086-G-A |
c.5327C>T |
p.S1776F |
Missense |
41/42 |
- |
2 |
19-17007086-G-C |
c.5327C>G |
p.S1776C |
Missense |
41/42 |
- |
1 |
19-17007089-G-A |
c.5324C>T |
p.A1775V |
Missense |
41/42 |
- |
1 |
19-17007089-G-C |
c.5324C>G |
p.A1775G |
Missense |
41/42 |
- |
1 |
19-17007096-C-G |
c.5317G>C |
p.D1773H |
Missense |
41/42 |
- |
1 |
19-17007098-T-A |
c.5315A>T |
p.D1772V |
Missense |
41/42 |
- |
1 |
19-17007099-C-T |
c.5314G>A |
p.D1772N |
Missense |
41/42 |
- |
1 |
19-17007100-C-T |
c.5313G>A |
p.G1771= |
Synonymous |
41/42 |
- |
1 |
19-17007101-C-T |
c.5312G>A |
p.G1771E |
Missense |
41/42 |
- |
4 |
19-17007107-G-A |
c.5306C>T |
p.T1769I |
Missense |
41/42 |
- |
2 |
19-17007112-G-A |
c.5301C>T |
p.S1767= |
Synonymous |
41/42 |
- |
1 |
19-17007112-GGAC-G |
c.5298_5300del |
p.S1768del |
InFrameDeletion |
41/42 |
- |
1 |
19-17007119-G-T |
c.5294C>A |
p.S1765* |
Nonsense |
41/42 |
- |
2 |
19-17007123-C-G |
c.5290G>C |
p.A1764P |
Missense |
41/42 |
- |
1 |
19-17007126-G-GC |
c.5286dup |
p.P1763Afs*11 |
Frameshift |
41/42 |
- |
1 |
19-17007131-C-T |
c.5282G>A |
p.R1761Q |
Missense |
41/42 |
- |
1 |
19-17007132-G-A |
c.5281C>T |
p.R1761W |
Missense |
41/42 |
- |
1 |
19-17007268-G-A |
c.5274C>T |
p.L1758= |
Synonymous |
40/42 |
- |
1 |
19-17007268-G-C |
c.5274C>G |
p.L1758= |
Synonymous |
40/42 |
- |
1 |
19-17007268-G-T |
c.5274C>A |
p.L1758= |
Synonymous |
40/42 |
- |
1 |
19-17007273-C-T |
c.5269G>A |
p.A1757T |
Missense |
40/42 |
- |
2 |
19-17007293-G-C |
c.5249C>G |
p.P1750R |
Missense |
40/42 |
- |
1 |
19-17007311-T-C |
c.5231A>G |
p.Q1744R |
Missense |
40/42 |
- |
1 |
19-17007313-GCG-CAT |
c.5227_5229delinsATG |
p.R1743M |
Missense |
40/42 |
- |
1 |
19-17007314-C-T |
c.5228G>A |
p.R1743H |
Missense |
40/42 |
- |
1 |
19-17007327-C-T |
c.5215G>A |
p.E1739K |
Missense |
40/42 |
- |
2 |
19-17007334-GC-TT |
c.5207_5208delinsAA |
p.R1736Q |
Missense |
40/42 |
- |
1 |
19-17007341-G-C |
c.5201C>G |
p.A1734G |
Missense |
40/42 |
- |
3 |
19-17007363-C-T |
c.5179G>A |
p.D1727N |
Missense |
40/42 |
- |
3 |
19-17007367-G-A |
c.5175C>T |
p.G1725= |
Synonymous |
40/42 |
- |
2 |
19-17007368-C-G |
c.5174G>C |
p.G1725A |
Missense |
40/42 |
- |
1 |
19-17007378-G-T |
c.5164C>A |
p.P1722T |
Missense |
40/42 |
- |
5 |
19-17007417-G-A |
c.5125C>T |
p.R1709* |
Nonsense |
40/42 |
- |
1 |
19-17007432-C-T |
c.5110G>A |
p.G1704R |
Missense |
40/42 |
- |
1 |
19-17007441-G-C |
c.5101C>G |
p.P1701A |
Missense |
40/42 |
- |
1 |
19-17007462-C-T |
c.5080G>A |
p.E1694K |
Missense |
40/42 |
- |
1 |
19-17007473-C-A |
c.5069G>T |
p.W1690L |
Missense |
40/42 |
- |
1 |
19-17007853-G-A |
c.5066-377C>T |
- |
intron_variant |
- |
39/41 |
2 |
19-17007853-G-C |
c.5066-377C>G |
- |
intron_variant |
- |
39/41 |
2 |
19-17008472-GTGGGGGGCGGCAGTGGCTCCGCGCACTCACCCGGGCCCCGGGCAGGGGCGCGCTCCACT-G |
c.5037_5065+30del |
- |
SpliceDonorDeletion |
39/42 |
39/41 |
1 |
19-17008510-C-T |
c.5057G>A |
p.R1686Q |
Missense |
39/42 |
- |
1 |
19-17007363-C-G |
c.5179G>C |
p.D1727H |
Missense |
40/42 |
- |
1 |
19-17008529-C-G |
c.5179G>C |
p.D1727H |
Missense |
40/42 |
- |
1 |
19-17008529-C-T |
c.5179G>A |
p.D1727N |
Missense |
40/42 |
- |
1 |
19-17008532-C-T |
c.5035G>A |
p.E1679K |
Missense |
39/42 |
- |
1 |
19-17008539-C-A |
c.5028G>T |
p.A1676= |
Synonymous |
39/42 |
- |
1 |
19-17008539-C-G |
c.5028G>C |
p.A1676= |
Synonymous |
39/42 |
- |
1 |
19-17008539-C-T |
c.5028G>A |
p.A1676= |
Synonymous |
39/42 |
- |
1 |
19-17008544-G-T |
c.5164C>A |
p.P1722T |
Missense |
40/42 |
- |
2 |
19-17008546-C-G |
c.5021G>C |
p.G1674A |
Missense |
39/42 |
- |
1 |
19-17008549-G-A |
c.5018C>T |
p.A1673V |
Missense |
39/42 |
- |
1 |
19-17008572-G-C |
c.4995C>G |
p.S1665R |
Missense |
39/42 |
- |
1 |
19-17008572-G-T |
c.4995C>A |
p.S1665R |
Missense |
39/42 |
- |
1 |
19-17008574-T-G |
c.4993A>C |
p.S1665R |
Missense |
39/42 |
- |
1 |
19-17008573-C-T |
c.4994G>A |
p.S1665N |
Missense |
39/42 |
- |
1 |
19-17008576-T-C |
c.4991A>G |
p.H1664R |
Missense |
39/42 |
- |
1 |
19-17008578-G-A |
c.4989C>T |
p.T1663= |
Synonymous |
39/42 |
- |
1 |
19-17008578-G-C |
c.4989C>G |
p.T1663= |
Synonymous |
39/42 |
- |
18 |
19-17008578-G-T |
c.4989C>A |
p.T1663= |
Synonymous |
39/42 |
- |
1 |
19-17008579-G-T |
c.4988C>A |
p.T1663N |
Missense |
39/42 |
- |
1 |
19-17008586-C-T |
c.4981G>A |
p.V1661I |
Missense |
39/42 |
- |
1 |
19-17008587-G-A |
c.4980C>T |
p.N1660= |
Synonymous |
39/42 |
- |
3 |
19-17008591-T-C |
c.4976A>G |
p.Y1659C |
Missense |
39/42 |
- |
1 |
19-17008594-A-G |
c.4973T>C |
p.F1658S |
Missense |
39/42 |
- |
1 |
19-17008596-GCG-CCA |
c.4969_4971delinsTGG |
p.R1657W |
Missense |
39/42 |
- |
1 |
19-17008600-G-A |
c.4967C>T |
p.T1656I |
Missense |
39/42 |
- |
1 |
19-17008607-C-G |
c.4960G>C |
p.E1654Q |
Missense |
39/42 |
- |
4 |
19-17008607-C-T |
c.4960G>A |
p.E1654K |
Missense |
39/42 |
- |
1 |
19-17008632-G-C |
c.4955-20C>G |
- |
intron_variant |
- |
38/41 |
1 |
19-17008632-G-T |
c.4955-20C>A |
- |
intron_variant |
- |
38/41 |
1 |
19-17008669-C-T |
c.4954+31G>A |
- |
IntronicSNV |
- |
38/41 |
1 |
19-17008688-G-A |
c.4954+12C>T |
- |
intron_variant |
- |
38/41 |
1 |
19-17008688-G-T |
c.4954+12C>A |
- |
intron_variant |
- |
38/41 |
1 |
19-17008707-G-A |
c.4947C>T |
p.Y1649= |
Synonymous |
38/42 |
- |
1 |
19-17008713-G-C |
c.4941C>G |
p.D1647E |
Missense |
38/42 |
- |
1 |
19-17008713-G-T |
c.4941C>A |
p.D1647E |
Missense |
38/42 |
- |
1 |
19-17008717-T-C |
c.4937A>G |
p.Y1646C |
Missense |
38/42 |
- |
1 |
19-17008719-C-T |
c.4935G>A |
p.V1645= |
Synonymous |
38/42 |
- |
1 |
19-17008721-C-G |
c.4933G>C |
p.V1645L |
Missense |
38/42 |
- |
1 |
19-17008728-T-A |
c.4926A>T |
p.P1642= |
Synonymous |
38/42 |
- |
1 |
19-17008728-T-C |
c.4926A>G |
p.P1642= |
Synonymous |
38/42 |
- |
1 |
19-17008728-T-G |
c.4926A>C |
p.P1642= |
Synonymous |
38/42 |
- |
1 |
19-17008729-G-C |
c.4925C>G |
p.P1642R |
Missense |
38/42 |
- |
1 |
19-17008734-C-A |
c.4920G>T |
p.A1640= |
Synonymous |
38/42 |
- |
1 |
19-17008734-C-G |
c.4920G>C |
p.A1640= |
Synonymous |
38/42 |
- |
1 |
19-17008734-C-T |
c.4920G>A |
p.A1640= |
Synonymous |
38/42 |
- |
3 |
19-17008738-G-A |
c.4916C>T |
p.S1639L |
Missense |
38/42 |
- |
4 |
19-17008739-A-G |
c.4915T>C |
p.S1639P |
Missense |
38/42 |
- |
1 |
19-17008742-T-C |
c.4912A>G |
p.T1638A |
Missense |
38/42 |
- |
1 |
19-17008746-GCC-TCA |
c.4906_4908delinsTGA |
p.G1636* |
Nonsense |
38/42 |
- |
1 |
19-17008753-A-G |
c.4901T>C |
p.V1634A |
Missense |
38/42 |
- |
1 |
19-17008754-C-T |
c.4900G>A |
p.V1634M |
Missense |
38/42 |
- |
1 |
19-17008755-G-A |
c.4899C>T |
p.C1633= |
Synonymous |
38/42 |
- |
1 |
19-17008757-A-G |
c.4897T>C |
p.C1633R |
Missense |
38/42 |
- |
1 |
19-17008758-C-A |
c.4896G>T |
p.E1632D |
Missense |
38/42 |
- |
1 |
19-17008758-C-T |
c.4896G>A |
p.E1632= |
Synonymous |
38/42 |
- |
1 |
19-17008759-T-G |
c.4895A>C |
p.E1632A |
Missense |
38/42 |
- |
1 |
19-17008760-C-T |
c.4894G>A |
p.E1632K |
Missense |
38/42 |
- |
1 |
19-17008761-C-A |
c.4893G>T |
p.R1631= |
Synonymous |
38/42 |
- |
1 |
19-17008766-G-A |
c.4888C>T |
p.L1630F |
Missense |
38/42 |
- |
1 |
19-17008771-C-T |
c.4883G>A |
p.R1628H |
Missense |
38/42 |
- |
1 |
19-17008772-G-T |
c.4882C>A |
p.R1628S |
Missense |
38/42 |
- |
2 |
19-17008773-G-A |
c.4881C>T |
p.F1627= |
Synonymous |
38/42 |
- |
1 |
19-17008778-G-A |
c.4876C>T |
p.R1626W |
Missense |
38/42 |
- |
1 |
19-17008781-C-T |
c.4873G>A |
p.V1625M |
Missense |
38/42 |
- |
1 |
19-17008782-G-A |
c.4872C>T |
p.C1624= |
Synonymous |
38/42 |
- |
1 |
19-17008783-C-T |
c.4871G>A |
p.C1624Y |
Missense |
38/42 |
- |
1 |
19-17008792-C-A |
c.4862G>T |
p.C1621F |
Missense |
38/42 |
- |
1 |
19-17008792-CA-GT |
c.4861_4862delinsAC |
p.C1621T |
Missense |
38/42 |
- |
1 |
19-17008795-C-T |
c.4859G>A |
p.R1620Q |
Missense |
38/42 |
- |
1 |
19-17008796-G-C |
c.4858C>G |
p.R1620G |
Missense |
38/42 |
- |
4 |
19-17008803-G-A |
c.4851C>T |
p.I1617= |
Synonymous |
38/42 |
- |
2 |
19-17010283-T-C |
c.4848+3A>G |
- |
IntronicSNV |
- |
37/41 |
1 |
19-17010285-C-T |
c.4848+1G>A |
- |
IntronicSNV |
- |
37/41 |
1 |
19-17010288-C-T |
c.4846G>A |
p.E1616K |
Missense |
37/42 |
- |
1 |
19-17010303-G-A |
c.4831C>T |
p.L1611F |
Missense |
37/42 |
- |
1 |
19-17010304-C-A |
c.4830G>T |
p.V1610= |
Synonymous |
37/42 |
- |
1 |
19-17010306-C-T |
c.4828G>A |
p.V1610M |
Missense |
37/42 |
- |
1 |
19-17010309-G-A |
c.4825C>T |
p.R1609* |
Nonsense |
37/42 |
- |
3 |
19-17010311-C-T |
c.4823G>A |
p.R1608H |
Missense |
37/42 |
- |
1 |
19-17010318-C-T |
c.4816G>A |
p.A1606T |
Missense |
37/42 |
- |
1 |
19-17010338-C-T |
c.4796G>A |
p.G1599E |
Missense |
37/42 |
- |
1 |
19-17010341-A-G |
c.4793T>C |
p.M1598T |
Missense |
37/42 |
- |
1 |
19-17010350-T-G |
c.4784A>C |
p.D1595A |
Missense |
37/42 |
- |
3 |
19-17010355-G-A |
c.4779C>T |
p.L1593= |
Synonymous |
37/42 |
- |
1 |
19-17010358-C-A |
c.4776G>T |
p.L1592= |
Synonymous |
37/42 |
- |
1 |
19-17011485-T-C |
c.4773+535A>G |
- |
intron_variant |
- |
36/41 |
1 |
19-17011860-G-A |
c.4773+160C>T |
- |
intron_variant |
- |
36/41 |
2 |
19-17011860-G-T |
c.4773+160C>A |
- |
intron_variant |
- |
36/41 |
2 |
19-17011879-A-G |
c.4773+141T>C |
- |
intron_variant |
- |
36/41 |
2 |
19-17011950-17011951---C |
c.4773+69dup |
- |
intron_variant |
- |
36/41 |
2 |
19-17011950-17011951---CC |
c.4773+68_4773+69dup |
- |
intron_variant |
- |
36/41 |
2 |
19-17011950-A-AC |
c.4773+69dup |
- |
IntronicInsertion |
- |
36/41 |
1 |
19-17012020-C-A |
c.4773G>T |
p.Q1591H |
Missense |
36/42 |
- |
1 |
19-17012022-G-A |
c.4771C>T |
p.Q1591* |
Nonsense |
36/42 |
- |
1 |
19-17012040-C-G |
c.4753G>C |
p.D1585H |
Missense |
36/42 |
- |
3 |
19-17012046-G-C |
c.4747C>G |
p.R1583G |
Missense |
36/42 |
- |
1 |
19-17012051-C-T |
c.4742G>A |
p.G1581D |
Missense |
36/42 |
- |
1 |
19-17012052-C-G |
c.4741G>C |
p.G1581R |
Missense |
36/42 |
- |
1 |
19-17012057-A-G |
c.4736T>C |
p.L1579P |
Missense |
36/42 |
- |
1 |
19-17012064-G-T |
c.4729C>A |
p.P1577T |
Missense |
36/42 |
- |
1 |
19-17012067-C-A |
c.4726G>T |
p.V1576L |
Missense |
36/42 |
- |
2 |
19-17012067-C-G |
c.4726G>C |
p.V1576L |
Missense |
36/42 |
- |
1 |
19-17012070-C-G |
c.4723G>C |
p.E1575Q |
Missense |
36/42 |
- |
3 |
19-17012085-T-C |
c.4708A>G |
p.N1570D |
Missense |
36/42 |
- |
1 |
19-17012086-G-A |
c.4707C>T |
p.S1569= |
Synonymous |
36/42 |
- |
2 |
19-17012086-G-C |
c.4707C>G |
p.S1569= |
Synonymous |
36/42 |
- |
1 |
19-17012086-G-T |
c.4707C>A |
p.S1569= |
Synonymous |
36/42 |
- |
1 |
19-17012091-A-G |
c.4702T>C |
p.S1568P |
Missense |
36/42 |
- |
1 |
19-17012092-C-T |
c.4701G>A |
p.G1567= |
Synonymous |
36/42 |
- |
3 |
19-17012096-G-A |
c.4697C>T |
p.A1566V |
Missense |
36/42 |
- |
1 |
19-17012096-G-C |
c.4697C>G |
p.A1566G |
Missense |
36/42 |
- |
2 |
19-17012096-G-T |
c.4697C>A |
p.A1566E |
Missense |
36/42 |
- |
1 |
19-17013281-C-A |
c.4685+178G>T |
- |
intron_variant |
- |
35/41 |
1 |
19-17013281-C-G |
c.4685+178G>C |
- |
intron_variant |
- |
35/41 |
1 |
19-17013281-C-T |
c.4685+178G>A |
- |
intron_variant |
- |
35/41 |
1 |
19-17013464-G-A |
c.4680C>T |
p.C1560= |
Synonymous |
35/42 |
- |
1 |
19-17013471-T-C |
c.4673A>G |
p.E1558G |
Missense |
35/42 |
- |
1 |
19-17013476-C-A |
c.4668G>T |
p.M1556I |
Missense |
35/42 |
- |
1 |
19-17013476-C-G |
c.4668G>C |
p.M1556I |
Missense |
35/42 |
- |
1 |
19-17013476-C-T |
c.4668G>A |
p.M1556I |
Missense |
35/42 |
- |
1 |
19-17013484-T-C |
c.4660A>G |
p.K1554E |
Missense |
35/42 |
- |
2 |
19-17013490-C-T |
c.4654G>A |
p.E1552K |
Missense |
35/42 |
- |
6 |
19-17013493-G-A |
c.4651C>T |
p.Q1551* |
Nonsense |
35/42 |
- |
1 |
19-17013494-G-C |
c.4650C>G |
p.H1550Q |
Missense |
35/42 |
- |
1 |
19-17013499-G-A |
c.4645C>T |
p.H1549Y |
Missense |
35/42 |
- |
2 |
19-17013504-T-C |
c.4640A>G |
p.D1547G |
Missense |
35/42 |
- |
1 |
19-17013505-C-T |
c.4639G>A |
p.D1547N |
Missense |
35/42 |
- |
5 |
19-17013507-G-A |
c.4637C>T |
p.A1546V |
Missense |
35/42 |
- |
6 |
19-17013509-C-A |
c.4635G>T |
p.A1545= |
Synonymous |
35/42 |
- |
1 |
19-17013509-C-T |
c.4635G>A |
p.A1545= |
Synonymous |
35/42 |
- |
1 |
19-17013510-G-A |
c.4634C>T |
p.A1545V |
Missense |
35/42 |
- |
2 |
19-17013520-C-T |
c.4624G>A |
p.D1542N |
Missense |
35/42 |
- |
1 |
19-17013523-C-T |
c.4621G>A |
p.D1541N |
Missense |
35/42 |
- |
3 |
19-17013524-G-A |
c.4620C>T |
p.D1540= |
Synonymous |
35/42 |
- |
4 |
19-17013532-G-A |
c.4612C>T |
p.P1538S |
Missense |
35/42 |
- |
1 |
19-17013536-C-A |
c.4608G>T |
p.W1536C |
Missense |
35/42 |
- |
2 |
19-17013536-C-G |
c.4608G>C |
p.W1536C |
Missense |
35/42 |
- |
1 |
19-17013536-C-T |
c.4608G>A |
p.W1536* |
Nonsense |
35/42 |
- |
1 |
19-17013537-C-T |
c.4607G>A |
p.W1536* |
Nonsense |
35/42 |
- |
1 |
19-17013543-C-T |
c.4601G>A |
p.G1534E |
Missense |
35/42 |
- |
3 |
19-17013546-C-T |
c.4598G>A |
p.R1533Q |
Missense |
35/42 |
- |
7 |
19-17013545-T-A |
c.4599A>T |
p.R1533= |
Synonymous |
35/42 |
- |
1 |
19-17013545-T-C |
c.4599A>G |
p.R1533= |
Synonymous |
35/42 |
- |
1 |
19-17013545-T-G |
c.4599A>C |
p.R1533= |
Synonymous |
35/42 |
- |
1 |
19-17013547-G-C |
c.4597C>G |
p.R1533G |
Missense |
35/42 |
- |
1 |
19-17013547-G-T |
c.4597C>A |
p.R1533= |
Synonymous |
35/42 |
- |
4 |
19-17013548-G-A |
c.4596C>T |
p.S1532= |
Synonymous |
35/42 |
- |
1 |
19-17013548-G-C |
c.4596C>G |
p.S1532= |
Synonymous |
35/42 |
- |
1 |
19-17013548-G-T |
c.4596C>A |
p.S1532= |
Synonymous |
35/42 |
- |
1 |
19-17013549-G-A |
c.4595C>T |
p.S1532F |
Missense |
35/42 |
- |
2 |
19-17013559-C-T |
c.4585G>A |
p.A1529T |
Missense |
35/42 |
- |
1 |
19-17013562-C-T |
c.4582G>A |
p.A1528T |
Missense |
35/42 |
- |
1 |
19-17013563-G-A |
c.4581C>T |
p.S1527= |
Synonymous |
35/42 |
- |
4 |
19-17013563-G-C |
c.4581C>G |
p.S1527= |
Synonymous |
35/42 |
- |
2 |
19-17013563-G-T |
c.4581C>A |
p.S1527= |
Synonymous |
35/42 |
- |
3 |
19-17013570-G-A |
c.4574C>T |
p.P1525L |
Missense |
35/42 |
- |
1 |
19-17013571-G-A |
c.4573C>T |
p.P1525S |
Missense |
35/42 |
- |
1 |
19-17013575-G-A |
c.4569C>T |
p.P1523= |
Synonymous |
35/42 |
- |
2 |
19-17013577-G-C |
c.4567C>G |
p.P1523A |
Missense |
35/42 |
- |
1 |
19-17013574-TG-T |
c.4569del |
p.M1524Cfs*32 |
Frameshift |
35/42 |
- |
1 |
19-17013580-G-A |
c.4564C>T |
p.P1522S |
Missense |
35/42 |
- |
1 |
19-17013581-C-A |
c.4563G>T |
p.P1521= |
Synonymous |
35/42 |
- |
2 |
19-17013581-C-G |
c.4563G>C |
p.P1521= |
Synonymous |
35/42 |
- |
2 |
19-17013581-C-T |
c.4563G>A |
p.P1521= |
Synonymous |
35/42 |
- |
4 |
19-17013582-G-A |
c.4562C>T |
p.P1521L |
Missense |
35/42 |
- |
5 |
19-17013585-C-T |
c.4559G>A |
p.R1520H |
Missense |
35/42 |
- |
2 |
19-17013586-G-A |
c.4558C>T |
p.R1520C |
Missense |
35/42 |
- |
2 |
19-17013589-C-T |
c.4555G>A |
p.G1519R |
Missense |
35/42 |
- |
3 |
19-17013590-C-A |
c.4554G>T |
p.Q1518H |
Missense |
35/42 |
- |
1 |
19-17013590-C-G |
c.4554G>C |
p.Q1518H |
Missense |
35/42 |
- |
1 |
19-17013590-C-T |
c.4554G>A |
p.Q1518= |
Synonymous |
35/42 |
- |
1 |
19-17013592-G-T |
c.4552C>A |
p.Q1518K |
Missense |
35/42 |
- |
1 |
19-17013598-C-A |
c.4546G>T |
p.E1516* |
Nonsense |
35/42 |
- |
1 |
19-17013605-C-T |
c.4539G>A |
p.Q1513= |
Synonymous |
35/42 |
- |
3 |
19-17013616-C-G |
c.4528G>C |
p.V1510L |
Missense |
35/42 |
- |
1 |
19-17013617-G-C |
c.4527C>G |
p.L1509= |
Synonymous |
35/42 |
- |
1 |
19-17013624-T-C |
c.4520A>G |
p.Q1507R |
Missense |
35/42 |
- |
1 |
19-17013625-G-A |
c.4519C>T |
p.Q1507* |
Nonsense |
35/42 |
- |
2 |
19-17013630-G-A |
c.4514C>T |
p.A1505V |
Missense |
35/42 |
- |
1 |
19-17013631-C-CT |
c.4512dup |
p.A1505Sfs*12 |
Frameshift |
35/42 |
- |
1 |
19-17013633-G-A |
c.4511C>T |
p.P1504L |
Missense |
35/42 |
- |
2 |
19-17013643-C-T |
c.4501G>A |
p.V1501M |
Missense |
35/42 |
- |
2 |
19-17013645-G-A |
c.4499C>T |
p.P1500L |
Missense |
35/42 |
- |
3 |
19-17013649-C-A |
c.4495G>T |
p.D1499Y |
Missense |
35/42 |
- |
1 |
19-17013649-C-T |
c.4495G>A |
p.D1499N |
Missense |
35/42 |
- |
1 |
19-17013657-T-C |
c.4487A>G |
p.N1496S |
Missense |
35/42 |
- |
1 |
19-17013919-C-T |
c.4471-246G>A |
- |
intron_variant |
- |
34/41 |
1 |
19-17014365-C-A |
c.4470+6G>T |
- |
IntronicSNV |
- |
34/41 |
1 |
19-17014374-C-A |
c.4467G>T |
p.M1489I |
Missense |
34/42 |
- |
1 |
19-17014374-C-G |
c.4467G>C |
p.M1489I |
Missense |
34/42 |
- |
1 |
19-17014374-C-T |
c.4467G>A |
p.M1489I |
Missense |
34/42 |
- |
1 |
19-17014374-GCATCAGGCAGCAGCCGTCCCCCTTGGCACTCACAAACAGCCCCGTGGGGAGGCTGGGGA-G |
c.4409_4467del |
p.I1470Tfs*3 |
InFrameDeletion |
34/42 |
- |
1 |
19-17014375-A-C |
c.4466T>G |
p.M1489R |
Missense |
34/42 |
- |
1 |
19-17014377-C-A |
c.4464G>T |
p.L1488= |
Synonymous |
34/42 |
- |
1 |
19-17014377-C-G |
c.4464G>C |
p.L1488= |
Synonymous |
34/42 |
- |
1 |
19-17014377-C-T |
c.4464G>A |
p.L1488= |
Synonymous |
34/42 |
- |
1 |
19-17014379-G-A |
c.4462C>T |
p.L1488= |
Synonymous |
34/42 |
- |
1 |
19-17014386-G-A |
c.4455C>T |
p.G1485= |
Synonymous |
34/42 |
- |
1 |
19-17014386-G-C |
c.4455C>G |
p.G1485= |
Synonymous |
34/42 |
- |
1 |
19-17014386-G-T |
c.4455C>A |
p.G1485= |
Synonymous |
34/42 |
- |
1 |
19-17014387-C-G |
c.4454G>C |
p.G1485A |
Missense |
34/42 |
- |
1 |
19-17014388-C-T |
c.4453G>A |
p.G1485S |
Missense |
34/42 |
- |
1 |
19-17014389-G-A |
c.4452C>T |
p.D1484= |
Synonymous |
34/42 |
- |
3 |
19-17014391-C-T |
c.4450G>A |
p.D1484N |
Missense |
34/42 |
- |
5 |
19-17014395-C-T |
c.4446G>A |
p.K1482= |
Synonymous |
34/42 |
- |
2 |
19-17014404-C-A |
c.4437G>T |
p.V1479= |
Synonymous |
34/42 |
- |
2 |
19-17014404-C-G |
c.4437G>C |
p.V1479= |
Synonymous |
34/42 |
- |
3 |
19-17014404-C-T |
c.4437G>A |
p.V1479= |
Synonymous |
34/42 |
- |
3 |
19-17014408-A-G |
c.4433T>C |
p.F1478S |
Missense |
34/42 |
- |
1 |
19-17014415-C-T |
c.4426G>A |
p.G1476R |
Missense |
34/42 |
- |
5 |
19-17014416-C-T |
c.4425G>A |
p.T1475= |
Synonymous |
34/42 |
- |
1 |
19-17014417-G-A |
c.4424C>T |
p.T1475M |
Missense |
34/42 |
- |
2 |
19-17014421-G-A |
c.4420C>T |
p.P1474S |
Missense |
34/42 |
- |
1 |
19-17014426-C-A |
c.4415G>T |
p.S1472I |
Missense |
34/42 |
- |
1 |
19-17014430-G-A |
c.4411C>T |
p.P1471S |
Missense |
34/42 |
- |
2 |
19-17014505-C-T |
c.4407+7G>A |
- |
IntronicSNV |
- |
33/41 |
1 |
19-17014507-C-T |
c.4407+5G>A |
- |
IntronicSNV |
- |
33/41 |
1 |
19-17014512-C-A |
c.4407G>T |
p.A1469= |
Synonymous |
33/42 |
- |
1 |
19-17014512-C-G |
c.4407G>C |
p.A1469= |
Synonymous |
33/42 |
- |
1 |
19-17014512-C-T |
c.4407G>A |
p.A1469= |
Synonymous |
33/42 |
- |
2 |
19-17014513-G-A |
c.4406C>T |
p.A1469V |
Missense |
33/42 |
- |
1 |
19-17014516-G-T |
c.4403C>A |
p.A1468E |
Missense |
33/42 |
- |
1 |
19-17014520-T-C |
c.4399A>G |
p.T1467A |
Missense |
33/42 |
- |
4 |
19-17014528-A-G |
c.4391T>C |
p.V1464A |
Missense |
33/42 |
- |
1 |
19-17014529-C-A |
c.4390G>T |
p.V1464F |
Missense |
33/42 |
- |
1 |
19-17014529-C-T |
c.4390G>A |
p.V1464I |
Missense |
33/42 |
- |
2 |
19-17014532-T-C |
c.4387A>G |
p.K1463E |
Missense |
33/42 |
- |
1 |
19-17014536-G-A |
c.4383C>T |
p.N1461= |
Synonymous |
33/42 |
- |
1 |
19-17014543-C-A |
c.4376G>T |
p.R1459M |
Missense |
33/42 |
- |
1 |
19-17014543-C-T |
c.4376G>A |
p.R1459K |
Missense |
33/42 |
- |
1 |
19-17014546-T-G |
c.4373A>C |
p.H1458P |
Missense |
33/42 |
- |
1 |
19-17014549-A-G |
c.4370T>C |
p.L1457P |
Missense |
33/42 |
- |
1 |
19-17014553-C-T |
c.4366G>A |
p.E1456K |
Missense |
33/42 |
- |
2 |
19-17014557-G-T |
c.4362C>A |
p.T1454= |
Synonymous |
33/42 |
- |
1 |
19-17014558-G-T |
c.4361C>A |
p.T1454N |
Missense |
33/42 |
- |
1 |
19-17014559-T-C |
c.4360A>G |
p.T1454A |
Missense |
33/42 |
- |
1 |
19-17014563-C-T |
c.4356G>A |
p.Q1452= |
Synonymous |
33/42 |
- |
1 |
19-17014572-C-T |
c.4347G>A |
p.L1449= |
Synonymous |
33/42 |
- |
1 |
19-17014574-G-A |
c.4345C>T |
p.L1449= |
Synonymous |
33/42 |
- |
1 |
19-17014574-G-C |
c.4345C>G |
p.L1449V |
Missense |
33/42 |
- |
1 |
19-17014586-C-G |
c.4333G>C |
p.A1445P |
Missense |
33/42 |
- |
1 |
19-17014589-G-T |
c.4330C>A |
p.L1444M |
Missense |
33/42 |
- |
1 |
19-17014590-G-A |
c.4329C>T |
p.S1443= |
Synonymous |
33/42 |
- |
2 |
19-17014590-G-C |
c.4329C>G |
p.S1443= |
Synonymous |
33/42 |
- |
1 |
19-17014590-G-T |
c.4329C>A |
p.S1443= |
Synonymous |
33/42 |
- |
2 |
19-17014593-G-A |
c.4326C>T |
p.V1442= |
Synonymous |
33/42 |
- |
1 |
19-17014593-G-C |
c.4326C>G |
p.V1442= |
Synonymous |
33/42 |
- |
1 |
19-17014593-G-T |
c.4326C>A |
p.V1442= |
Synonymous |
33/42 |
- |
1 |
19-17014595-C-G |
c.4324G>C |
p.V1442L |
Missense |
33/42 |
- |
1 |
19-17014598-T-A |
c.4321A>T |
p.T1441S |
Missense |
33/42 |
- |
1 |
19-17014601-G-T |
c.4318C>A |
p.L1440I |
Missense |
33/42 |
- |
1 |
19-17014607-T-C |
c.4312A>G |
p.I1438V |
Missense |
33/42 |
- |
1 |
19-17014616-C-A |
c.4303G>T |
p.A1435S |
Missense |
33/42 |
- |
1 |
19-17014618-T-C |
c.4301A>G |
p.Y1434C |
Missense |
33/42 |
- |
1 |
19-17014620-G-A |
c.4299C>T |
p.S1433= |
Synonymous |
33/42 |
- |
1 |
19-17014620-G-C |
c.4299C>G |
p.S1433= |
Synonymous |
33/42 |
- |
1 |
19-17014620-G-T |
c.4299C>A |
p.S1433= |
Synonymous |
33/42 |
- |
1 |
19-17014626-G-A |
c.4293C>T |
p.I1431= |
Synonymous |
33/42 |
- |
2 |
19-17014626-G-T |
c.4293C>A |
p.I1431= |
Synonymous |
33/42 |
- |
3 |
19-17014630-G-T |
c.4289C>A |
p.A1430D |
Missense |
33/42 |
- |
1 |
19-17014632-A-G |
c.4287T>C |
p.Y1429= |
Synonymous |
33/42 |
- |
1 |
19-17014633-T-C |
c.4286A>G |
p.Y1429C |
Missense |
33/42 |
- |
1 |
19-17014640-C-G |
c.4279G>C |
p.A1427P |
Missense |
33/42 |
- |
2 |
19-17014640-C-T |
c.4279G>A |
p.A1427T |
Missense |
33/42 |
- |
3 |
19-17014647-C-T |
c.4272G>A |
p.Q1424= |
Synonymous |
33/42 |
- |
1 |
19-17014654-G-T |
c.4265C>A |
p.A1422D |
Missense |
33/42 |
- |
1 |
19-17014655-C-T |
c.4264G>A |
p.A1422T |
Missense |
33/42 |
- |
1 |
19-17014656-CAC-GAT |
c.4261_4263delinsATC |
p.V1421I |
Missense |
33/42 |
- |
1 |
19-17014658-C-T |
c.4261G>A |
p.V1421M |
Missense |
33/42 |
- |
3 |
19-17014659-G-A |
c.4260C>T |
p.C1420= |
Synonymous |
33/42 |
- |
1 |
19-17014664-T-C |
c.4255A>G |
p.T1419A |
Missense |
33/42 |
- |
1 |
19-17014718-T-C |
c.4252-51A>G |
- |
intron_variant |
- |
32/41 |
1 |
19-17014871-G-A |
c.4251+165C>T |
- |
IntronicSNV |
- |
32/41 |
3 |
19-17014991-A-C |
c.4251+45T>G |
- |
IntronicSNV |
- |
32/41 |
1 |
19-17014995-A-C |
c.4251+41T>G |
- |
IntronicSNV |
- |
32/41 |
1 |
19-17015042-G-A |
c.4245C>T |
p.S1415= |
Synonymous |
32/42 |
- |
1 |
19-17015047-A-G |
c.4240T>C |
p.S1414P |
Missense |
32/42 |
- |
1 |
19-17015051-G-A |
c.4236C>T |
p.G1412= |
Synonymous |
32/42 |
- |
2 |
19-17015051-G-C |
c.4236C>G |
p.G1412= |
Synonymous |
32/42 |
- |
1 |
19-17015051-G-T |
c.4236C>A |
p.G1412= |
Synonymous |
32/42 |
- |
1 |
19-17015063-A-C |
c.4224T>G |
p.N1408K |
Missense |
32/42 |
- |
1 |
19-17015067-CG-GT |
c.4219_4220delinsAC |
p.R1407T |
Missense |
32/42 |
- |
1 |
19-17015067-C-T |
c.4220G>A |
p.R1407Q |
Missense |
32/42 |
- |
2 |
19-17015077-A-G |
c.4210T>C |
p.S1404P |
Missense |
32/42 |
- |
5 |
19-17015092-C-A |
c.4195G>T |
p.V1399L |
Missense |
32/42 |
- |
4 |
19-17015092-C-G |
c.4195G>C |
p.V1399L |
Missense |
32/42 |
- |
4 |
19-17015095-G-C |
c.4192C>G |
p.P1398A |
Missense |
32/42 |
- |
1 |
19-17015099-G-A |
c.4188C>T |
p.A1396= |
Synonymous |
32/42 |
- |
1 |
19-17015101-C-T |
c.4186G>A |
p.A1396T |
Missense |
32/42 |
- |
6 |
19-17015103-G-T |
c.4184C>A |
p.A1395D |
Missense |
32/42 |
- |
3 |
19-17015107-C-A |
c.4180G>T |
p.A1394S |
Missense |
32/42 |
- |
1 |
19-17015110-C-T |
c.4177G>A |
p.V1393M |
Missense |
32/42 |
- |
2 |
19-17015111-G-A |
c.4176C>T |
p.D1392= |
Synonymous |
32/42 |
- |
1 |
19-17015112-T-A |
c.4175A>T |
p.D1392V |
Missense |
32/42 |
- |
1 |
19-17015112-T-C |
c.4175A>G |
p.D1392G |
Missense |
32/42 |
- |
1 |
19-17015115-C-A |
c.4172G>T |
p.G1391V |
Missense |
32/42 |
- |
1 |
19-17015119-G-T |
c.4168C>A |
p.L1390M |
Missense |
32/42 |
- |
1 |
19-17015120-C-A |
c.4167G>T |
p.L1389= |
Synonymous |
32/42 |
- |
1 |
19-17015120-C-G |
c.4167G>C |
p.L1389= |
Synonymous |
32/42 |
- |
1 |
19-17015120-C-T |
c.4167G>A |
p.L1389= |
Synonymous |
32/42 |
- |
1 |
19-17015122-G-A |
c.4165C>T |
p.L1389= |
Synonymous |
32/42 |
- |
1 |
19-17015121-A-C |
c.4166T>G |
p.L1389R |
Missense |
32/42 |
- |
2 |
19-17015124-G-T |
c.4163C>A |
p.T1388N |
Missense |
32/42 |
- |
3 |
19-17015125-T-G |
c.4162A>C |
p.T1388P |
Missense |
32/42 |
- |
2 |
19-17015126-G-T |
c.4161C>A |
p.Y1387* |
Nonsense |
32/42 |
- |
1 |
19-17015127-T-G |
c.4160A>C |
p.Y1387S |
Missense |
32/42 |
- |
2 |
19-17015129-G-A |
c.4158C>T |
p.T1386= |
Synonymous |
32/42 |
- |
1 |
19-17015129-G-C |
c.4158C>G |
p.T1386= |
Synonymous |
32/42 |
- |
1 |
19-17015129-GG-CT |
c.4157_4158delinsAG |
p.T1386K |
Missense |
32/42 |
- |
1 |
19-17015129-G-T |
c.4158C>A |
p.T1386= |
Synonymous |
32/42 |
- |
2 |
19-17015130-G-T |
c.4157C>A |
p.T1386N |
Missense |
32/42 |
- |
1 |
19-17015131-T-A |
c.4156A>T |
p.T1386S |
Missense |
32/42 |
- |
1 |
19-17015133-A-G |
c.4154T>C |
p.L1385P |
Missense |
32/42 |
- |
8 |
19-17015139-G-A |
c.4148C>T |
p.A1383V |
Missense |
32/42 |
- |
3 |
19-17015140-C-T |
c.4147G>A |
p.A1383T |
Missense |
32/42 |
- |
3 |
19-17015142-T-C |
c.4145A>G |
p.Y1382C |
Missense |
32/42 |
- |
1 |
19-17015149-T-C |
c.4138A>G |
p.T1380A |
Missense |
32/42 |
- |
1 |
19-17015150-C-T |
c.4137G>A |
p.M1379I |
Missense |
32/42 |
- |
2 |
19-17015155-C-T |
c.4132G>A |
p.E1378K |
Missense |
32/42 |
- |
6 |
19-17015156-C-T |
c.4131G>A |
p.V1377= |
Synonymous |
32/42 |
- |
1 |
19-17015161-C-T |
c.4126G>A |
p.E1376K |
Missense |
32/42 |
- |
1 |
19-17015165-C-T |
c.4122G>A |
p.S1374= |
Synonymous |
32/42 |
- |
1 |
19-17015166-G-A |
c.4121C>T |
p.S1374L |
Missense |
32/42 |
- |
1 |
19-17015168-GAC-CAT |
c.4117_4119delinsATG |
p.V1373M |
Missense |
32/42 |
- |
1 |
19-17015276-C-T |
c.4114G>A |
p.V1372M |
Missense |
31/42 |
- |
1 |
19-17015282-G-A |
c.4108C>T |
p.Q1370* |
Nonsense |
31/42 |
- |
1 |
19-17015287-A-G |
c.4103T>C |
p.V1368A |
Missense |
31/42 |
- |
1 |
19-17015288-C-A |
c.4102G>T |
p.V1368F |
Missense |
31/42 |
- |
1 |
19-17015299-A-G |
c.4091T>C |
p.F1364S |
Missense |
31/42 |
- |
1 |
19-17015302-C-T |
c.4088G>A |
p.S1363N |
Missense |
31/42 |
- |
1 |
19-17015305-A-C |
c.4085T>G |
p.L1362W |
Missense |
31/42 |
- |
1 |
19-17015307-G-A |
c.4083C>T |
p.F1361= |
Synonymous |
31/42 |
- |
3 |
19-17015307-G-C |
c.4083C>G |
p.F1361L |
Missense |
31/42 |
- |
1 |
19-17015307-G-T |
c.4083C>A |
p.F1361L |
Missense |
31/42 |
- |
1 |
19-17015309-A-G |
c.4081T>C |
p.F1361L |
Missense |
31/42 |
- |
1 |
19-17015310-T-A |
c.4080A>T |
p.T1360= |
Synonymous |
31/42 |
- |
1 |
19-17015310-T-C |
c.4080A>G |
p.T1360= |
Synonymous |
31/42 |
- |
1 |
19-17015310-T-G |
c.4080A>C |
p.T1360= |
Synonymous |
31/42 |
- |
1 |
19-17015311-G-A |
c.4079C>T |
p.T1360I |
Missense |
31/42 |
- |
2 |
19-17015315-C-T |
c.4075G>A |
p.G1359S |
Missense |
31/42 |
- |
1 |
19-17015324-C-T |
c.4066G>A |
p.V1356M |
Missense |
31/42 |
- |
1 |
19-17015325-G-A |
c.4065C>T |
p.D1355= |
Synonymous |
31/42 |
- |
1 |
19-17015327-C-G |
c.4063G>C |
p.D1355H |
Missense |
31/42 |
- |
1 |
19-17015328-C-T |
c.4062G>A |
p.W1354* |
Nonsense |
31/42 |
- |
1 |
19-17015329-C-T |
c.4061G>A |
p.W1354* |
Nonsense |
31/42 |
- |
1 |
19-17015332-G-A |
c.4058C>T |
p.S1353F |
Missense |
31/42 |
- |
1 |
19-17015340-C-A |
c.4050G>T |
p.L1350= |
Synonymous |
31/42 |
- |
1 |
19-17015340-C-G |
c.4050G>C |
p.L1350= |
Synonymous |
31/42 |
- |
1 |
19-17015340-C-T |
c.4050G>A |
p.L1350= |
Synonymous |
31/42 |
- |
1 |
19-17015341-A-G |
c.4049T>C |
p.L1350P |
Missense |
31/42 |
- |
1 |
19-17015342-G-A |
c.4048C>T |
p.L1350= |
Synonymous |
31/42 |
- |
2 |
19-17015344-C-A |
c.4046G>T |
p.S1349I |
Missense |
31/42 |
- |
2 |
19-17015345-T-A |
c.4045A>T |
p.S1349C |
Missense |
31/42 |
- |
1 |
19-17015351-G-A |
c.4039C>T |
p.H1347Y |
Missense |
31/42 |
- |
1 |
19-17015353-G-A |
c.4037C>T |
p.T1346I |
Missense |
31/42 |
- |
1 |
19-17015357-C-T |
c.4033G>A |
p.V1345I |
Missense |
31/42 |
- |
1 |
19-17015360-C-T |
c.4030G>A |
p.G1344R |
Missense |
31/42 |
- |
4 |
19-17015361-A-C |
c.4029T>G |
p.D1343E |
Missense |
31/42 |
- |
1 |
19-17015361-A-T |
c.4029T>A |
p.D1343E |
Missense |
31/42 |
- |
1 |
19-17015428-G-A |
c.4028-66C>T |
- |
intron_variant |
- |
30/41 |
5 |
19-17017213-TTTCTTTCC-T |
c.4027+541_4027+548del |
- |
IntronicDeletion |
- |
30/41 |
1 |
19-17017416-A-G |
c.4027+346T>C |
- |
IntronicSNV |
- |
30/41 |
1 |
19-17017692-G-C |
c.4027+70C>G |
- |
IntronicSNV |
- |
30/41 |
1 |
19-17017762-C-T |
c.4027G>A |
p.D1343N |
Missense |
30/42 |
- |
4 |
19-17017764-C-T |
c.4025G>A |
p.R1342Q |
Missense |
30/42 |
- |
4 |
19-17017765-G-A |
c.4024C>T |
p.R1342* |
Nonsense |
30/42 |
- |
1 |
19-17017774-C-T |
c.4015G>A |
p.A1339T |
Missense |
30/42 |
- |
1 |
19-17017782-C-T |
c.4007G>A |
p.R1336H |
Missense |
30/42 |
- |
1 |
19-17017783-G-A |
c.4006C>T |
p.R1336C |
Missense |
30/42 |
- |
1 |
19-17017783-G-C |
c.4006C>G |
p.R1336G |
Missense |
30/42 |
- |
1 |
19-17017784-G-A |
c.4005C>T |
p.L1335= |
Synonymous |
30/42 |
- |
3 |
19-17017791-C-T |
c.3998G>A |
p.R1333H |
Missense |
30/42 |
- |
2 |
19-17017792-G-A |
c.3997C>T |
p.R1333C |
Missense |
30/42 |
- |
1 |
19-17017798-C-A |
c.3991G>T |
p.A1331S |
Missense |
30/42 |
- |
1 |
19-17017800-T-A |
c.3989A>T |
p.E1330V |
Missense |
30/42 |
- |
1 |
19-17017807-C-A |
c.3982G>T |
p.A1328S |
Missense |
30/42 |
- |
1 |
19-17017811-C-A |
c.3978G>T |
p.P1326= |
Synonymous |
30/42 |
- |
1 |
19-17017811-C-G |
c.3978G>C |
p.P1326= |
Synonymous |
30/42 |
- |
1 |
19-17017811-C-T |
c.3978G>A |
p.P1326= |
Synonymous |
30/42 |
- |
1 |
19-17017812-G-T |
c.3977C>A |
p.P1326Q |
Missense |
30/42 |
- |
2 |
19-17017818-C-T |
c.3971G>A |
p.R1324H |
Missense |
30/42 |
- |
9 |
19-17017819-G-A |
c.3970C>T |
p.R1324C |
Missense |
30/42 |
- |
2 |
19-17017819-G-C |
c.3970C>G |
p.R1324G |
Missense |
30/42 |
- |
1 |
19-17017832-C-T |
c.3957G>A |
p.A1319= |
Synonymous |
30/42 |
- |
1 |
19-17017833-G-A |
c.3956C>T |
p.A1319V |
Missense |
30/42 |
- |
2 |
19-17017834-C-G |
c.3955G>C |
p.A1319P |
Missense |
30/42 |
- |
1 |
19-17017834-C-T |
c.3955G>A |
p.A1319T |
Missense |
30/42 |
- |
2 |
19-17017835-G-A |
c.3954C>T |
p.Y1318= |
Synonymous |
30/42 |
- |
4 |
19-17017837-A-G |
c.3952T>C |
p.Y1318H |
Missense |
30/42 |
- |
1 |
19-17017845-AG-CA |
c.3943_3944delinsTG |
p.L1315W |
Missense |
30/42 |
- |
1 |
19-17017847-G-A |
c.3942C>T |
p.A1314= |
Synonymous |
30/42 |
- |
3 |
19-17017851-C-A |
c.3938G>T |
p.C1313F |
Missense |
30/42 |
- |
4 |
19-17017854-C-T |
c.3935G>A |
p.S1312N |
Missense |
30/42 |
- |
1 |
19-17017856-A-C |
c.3933T>G |
p.Y1311* |
Nonsense |
30/42 |
- |
1 |
19-17017860-G-A |
c.3929C>T |
p.P1310L |
Missense |
30/42 |
- |
1 |
19-17017874-G-A |
c.3915C>T |
p.P1305= |
Synonymous |
30/42 |
- |
1 |
19-17017877-C-A |
c.3912G>T |
p.A1304= |
Synonymous |
30/42 |
- |
3 |
19-17017877-C-G |
c.3912G>C |
p.A1304= |
Synonymous |
30/42 |
- |
3 |
19-17017877-C-T |
c.3912G>A |
p.A1304= |
Synonymous |
30/42 |
- |
5 |
19-17017878-G-A |
c.3911C>T |
p.A1304V |
Missense |
30/42 |
- |
23 |
19-17017884-G-C |
c.3905C>G |
p.S1302C |
Missense |
30/42 |
- |
1 |
19-17017889-C-A |
c.3900G>T |
p.L1300= |
Synonymous |
30/42 |
- |
1 |
19-17017889-C-G |
c.3900G>C |
p.L1300= |
Synonymous |
30/42 |
- |
1 |
19-17017889-C-T |
c.3900G>A |
p.L1300= |
Synonymous |
30/42 |
- |
1 |
19-17017891-G-A |
c.3898C>T |
p.L1300= |
Synonymous |
30/42 |
- |
1 |
19-17017892-G-A |
c.3897C>T |
p.F1299= |
Synonymous |
30/42 |
- |
3 |
19-17017898-C-T |
c.3891G>A |
p.R1297= |
Synonymous |
30/42 |
- |
1 |
19-17017900-T-G |
c.3889A>C |
p.R1297= |
Synonymous |
30/42 |
- |
1 |
19-17017901-C-A |
c.3888G>T |
p.A1296= |
Synonymous |
30/42 |
- |
3 |
19-17017901-C-G |
c.3888G>C |
p.A1296= |
Synonymous |
30/42 |
- |
3 |
19-17017901-C-T |
c.3888G>A |
p.A1296= |
Synonymous |
30/42 |
- |
4 |
19-17017902-G-A |
c.3887C>T |
p.A1296V |
Missense |
30/42 |
- |
2 |
19-17017916-G-A |
c.3873C>T |
p.G1291= |
Synonymous |
30/42 |
- |
1 |
19-17017916-G-C |
c.3873C>G |
p.G1291= |
Synonymous |
30/42 |
- |
1 |
19-17017916-G-T |
c.3873C>A |
p.G1291= |
Synonymous |
30/42 |
- |
1 |
19-17017918-C-A |
c.3871G>T |
p.G1291C |
Missense |
30/42 |
- |
1 |
19-17017919-T-C |
c.3870A>G |
p.R1290= |
Synonymous |
30/42 |
- |
2 |
19-17017920-C-G |
c.3869G>C |
p.R1290T |
Missense |
30/42 |
- |
2 |
19-17017924-C-T |
c.3865G>A |
p.E1289K |
Missense |
30/42 |
- |
1 |
19-17017927-C-T |
c.3862G>A |
p.E1288K |
Missense |
30/42 |
- |
1 |
19-17018852-C-T |
c.3862-925G>A |
- |
intron_variant |
- |
29/41 |
2 |
19-17019173-A-T |
c.3862-1246T>A |
- |
intron_variant |
- |
29/41 |
1 |
19-17020662-G-A |
c.3862-2735C>T |
- |
intron_variant |
- |
29/41 |
1 |
19-17020688-A-G |
c.3862-2761T>C |
- |
intron_variant |
- |
29/41 |
1 |
19-17021066-G-A |
c.3862-3139C>T |
- |
intron_variant |
- |
29/41 |
1 |
19-17021066-G-C |
c.3862-3139C>G |
- |
intron_variant |
- |
29/41 |
1 |
19-17021066-G-T |
c.3862-3139C>A |
- |
intron_variant |
- |
29/41 |
1 |
19-17025233-C-T |
c.3861+1G>A |
- |
IntronicSNV |
- |
29/41 |
2 |
19-17025236-TCTGAGGCTGTGCCTGTTTCCAGGAGAGCAACCACCACGTAGGCTGTCAGCGGGACAGTG-T |
c.3801_3859del |
p.T1268Gfs*7 |
InFrameDeletion |
29/42 |
- |
1 |
19-17025238-G-A |
c.3857C>T |
p.S1286L |
Missense |
29/42 |
- |
1 |
19-17025238-G-C |
c.3857C>G |
p.S1286* |
Nonsense |
29/42 |
- |
1 |
19-17025241-G-T |
c.3854C>A |
p.A1285D |
Missense |
29/42 |
- |
1 |
19-17025242-C-T |
c.3853G>A |
p.A1285T |
Missense |
29/42 |
- |
1 |
19-17025247-C-G |
c.3848G>C |
p.G1283A |
Missense |
29/42 |
- |
1 |
19-17025250-G-A |
c.3845C>T |
p.T1282I |
Missense |
29/42 |
- |
1 |
19-17025251-T-C |
c.3844A>G |
p.T1282A |
Missense |
29/42 |
- |
1 |
19-17025254-C-T |
c.3841G>A |
p.E1281K |
Missense |
29/42 |
- |
1 |
19-17025258-G-A |
c.3837C>T |
p.L1279= |
Synonymous |
29/42 |
- |
1 |
19-17025258-G-C |
c.3837C>G |
p.L1279= |
Synonymous |
29/42 |
- |
1 |
19-17025258-G-T |
c.3837C>A |
p.L1279= |
Synonymous |
29/42 |
- |
1 |
19-17025260-G-A |
c.3835C>T |
p.L1279F |
Missense |
29/42 |
- |
1 |
19-17025262-G-T |
c.3833C>A |
p.A1278D |
Missense |
29/42 |
- |
1 |
19-17025266-C-A |
c.3829G>T |
p.V1277F |
Missense |
29/42 |
- |
1 |
19-17025269-C-T |
c.3826G>A |
p.V1276M |
Missense |
29/42 |
- |
2 |
19-17025270-CAC-GAT |
c.3823_3825delinsATC |
p.V1275I |
Missense |
29/42 |
- |
1 |
19-17025272-C-T |
c.3823G>A |
p.V1275M |
Missense |
29/42 |
- |
1 |
19-17025276-G-C |
c.3819C>G |
p.A1273= |
Synonymous |
29/42 |
- |
1 |
19-17025286-G-A |
c.3809C>T |
p.P1270L |
Missense |
29/42 |
- |
1 |
19-17025286-G-T |
c.3809C>A |
p.P1270Q |
Missense |
29/42 |
- |
1 |
19-17025287-G-A |
c.3808C>T |
p.P1270S |
Missense |
29/42 |
- |
3 |
19-17025291-A-C |
c.3804T>G |
p.T1268= |
Synonymous |
29/42 |
- |
1 |
19-17025291-A-G |
c.3804T>C |
p.T1268= |
Synonymous |
29/42 |
- |
1 |
19-17025291-A-T |
c.3804T>A |
p.T1268= |
Synonymous |
29/42 |
- |
1 |
19-17025292-G-A |
c.3803C>T |
p.T1268I |
Missense |
29/42 |
- |
36 |
19-17025295-C-A |
c.3800G>T |
p.G1267V |
Missense |
29/42 |
- |
1 |
19-17025296-C-A |
c.3799G>T |
p.G1267C |
Missense |
29/42 |
- |
1 |
19-17025297-G-A |
c.3798C>T |
p.H1266= |
Synonymous |
29/42 |
- |
2 |
19-17025299-G-T |
c.3796C>A |
p.H1266N |
Missense |
29/42 |
- |
1 |
19-17025301-A-G |
c.3794T>C |
p.I1265T |
Missense |
29/42 |
- |
1 |
19-17025308-C-T |
c.3787G>A |
p.G1263S |
Missense |
29/42 |
- |
6 |
19-17025311-G-A |
c.3787-3C>T |
- |
splice_polypyrimidine_tract_variant,splice_region_variant,intron_variant |
- |
28/41 |
3 |
19-17025475-C-T |
c.3778G>A |
p.D1260N |
Missense |
28/42 |
- |
3 |
19-17025482-C-T |
c.3771G>A |
p.L1257= |
Synonymous |
28/42 |
- |
3 |
19-17025487-C-T |
c.3766G>A |
p.V1256I |
Missense |
28/42 |
- |
2 |
19-17025488-C-T |
c.3765G>A |
p.R1255= |
Synonymous |
28/42 |
- |
1 |
19-17025489-C-T |
c.3764G>A |
p.R1255K |
Missense |
28/42 |
- |
4 |
19-17025491-G-A |
c.3762C>T |
p.G1254= |
Synonymous |
28/42 |
- |
1 |
19-17025493-C-T |
c.3760G>A |
p.G1254S |
Missense |
28/42 |
- |
1 |
19-17025494-C-A |
c.3759G>T |
p.V1253= |
Synonymous |
28/42 |
- |
4 |
19-17025494-C-G |
c.3759G>C |
p.V1253= |
Synonymous |
28/42 |
- |
3 |
19-17025494-C-T |
c.3759G>A |
p.V1253= |
Synonymous |
28/42 |
- |
3 |
19-17025496-C-A |
c.3757G>T |
p.V1253L |
Missense |
28/42 |
- |
1 |
19-17025496-C-T |
c.3757G>A |
p.V1253M |
Missense |
28/42 |
- |
2 |
19-17025500-CAG-AAA |
c.3751_3753delinsTTT |
p.L1251F |
Missense |
28/42 |
- |
1 |
19-17025507-G-A |
c.3746C>T |
p.S1249F |
Missense |
28/42 |
- |
2 |
19-17025508-A-T |
c.3745T>A |
p.S1249T |
Missense |
28/42 |
- |
1 |
19-17025509-G-A |
c.3744C>T |
p.G1248= |
Synonymous |
28/42 |
- |
1 |
19-17025509-G-C |
c.3744C>G |
p.G1248= |
Synonymous |
28/42 |
- |
1 |
19-17025509-G-T |
c.3744C>A |
p.G1248= |
Synonymous |
28/42 |
- |
1 |
19-17025510-C-A |
c.3743G>T |
p.G1248V |
Missense |
28/42 |
- |
1 |
19-17025510-C-T |
c.3743G>A |
p.G1248D |
Missense |
28/42 |
- |
3 |
19-17025512-A-G |
c.3741T>C |
p.D1247= |
Synonymous |
28/42 |
- |
1 |
19-17025514-C-T |
c.3739G>A |
p.D1247N |
Missense |
28/42 |
- |
3 |
19-17025515-G-A |
c.3738C>T |
p.A1246= |
Synonymous |
28/42 |
- |
1 |
19-17025516-G-A |
c.3737C>T |
p.A1246V |
Missense |
28/42 |
- |
1 |
19-17025517-C-T |
c.3736G>A |
p.A1246T |
Missense |
28/42 |
- |
1 |
19-17025516-G-GC |
c.3736dup |
p.A1246Gfs*49 |
Frameshift |
28/42 |
- |
1 |
19-17025521-C-T |
c.3732G>A |
p.Q1244= |
Synonymous |
28/42 |
- |
1 |
19-17025526-G-C |
c.3727C>G |
p.Q1243E |
Missense |
28/42 |
- |
1 |
19-17025533-G-A |
c.3720C>T |
p.I1240= |
Synonymous |
28/42 |
- |
3 |
19-17025536-C-T |
c.3717G>A |
p.W1239* |
Nonsense |
28/42 |
- |
2 |
19-17025537-C-T |
c.3716G>A |
p.W1239* |
Nonsense |
28/42 |
- |
1 |
19-17025539-G-A |
c.3714C>T |
p.S1238= |
Synonymous |
28/42 |
- |
1 |
19-17025540-CT-AG |
c.3712_3713inv |
p.S1238L |
Missense |
28/42 |
- |
1 |
19-17025541-T-C |
c.3712A>G |
p.S1238G |
Missense |
28/42 |
- |
1 |
19-17025542-C-A |
c.3711G>T |
p.K1237N |
Missense |
28/42 |
- |
1 |
19-17025542-C-G |
c.3711G>C |
p.K1237N |
Missense |
28/42 |
- |
1 |
19-17025547-C-T |
c.3706G>A |
p.A1236T |
Missense |
28/42 |
- |
1 |
19-17025548-G-A |
c.3705C>T |
p.A1235= |
Synonymous |
28/42 |
- |
2 |
19-17025548-G-C |
c.3705C>G |
p.A1235= |
Synonymous |
28/42 |
- |
1 |
19-17025548-G-T |
c.3705C>A |
p.A1235= |
Synonymous |
28/42 |
- |
1 |
19-17025549-G-A |
c.3704C>T |
p.A1235V |
Missense |
28/42 |
- |
2 |
19-17025559-C-T |
c.3694G>A |
p.E1232K |
Missense |
28/42 |
- |
3 |
19-17025560-C-T |
c.3693G>A |
p.R1231= |
Synonymous |
28/42 |
- |
1 |
19-17025561-C-T |
c.3692G>A |
p.R1231Q |
Missense |
28/42 |
- |
1 |
19-17025562-G-A |
c.3691C>T |
p.R1231W |
Missense |
28/42 |
- |
1 |
19-17025563-G-A |
c.3690C>T |
p.P1230= |
Synonymous |
28/42 |
- |
3 |
19-17025563-G-C |
c.3690C>G |
p.P1230= |
Synonymous |
28/42 |
- |
1 |
19-17025563-G-T |
c.3690C>A |
p.P1230= |
Synonymous |
28/42 |
- |
1 |
19-17025565-G-A |
c.3688C>T |
p.P1230S |
Missense |
28/42 |
- |
2 |
19-17025566-G-A |
c.3687C>T |
p.D1229= |
Synonymous |
28/42 |
- |
1 |
19-17025568-C-T |
c.3685G>A |
p.D1229N |
Missense |
28/42 |
- |
1 |
19-17025571-C-T |
c.3682G>A |
p.V1228M |
Missense |
28/42 |
- |
4 |
19-17025572-G-A |
c.3681C>T |
p.F1227= |
Synonymous |
28/42 |
- |
5 |
19-17025572-G-C |
c.3681C>G |
p.F1227L |
Missense |
28/42 |
- |
1 |
19-17025572-G-T |
c.3681C>A |
p.F1227L |
Missense |
28/42 |
- |
1 |
19-17025574-A-G |
c.3679T>C |
p.F1227L |
Missense |
28/42 |
- |
5 |
19-17025576-A-G |
c.3677T>C |
p.I1226T |
Missense |
28/42 |
- |
1 |
19-17025577-T-C |
c.3676A>G |
p.I1226V |
Missense |
28/42 |
- |
2 |
19-17025581-G-A |
c.3672C>T |
p.S1224= |
Synonymous |
28/42 |
- |
1 |
19-17025582-C-G |
c.3671G>C |
p.S1224T |
Missense |
28/42 |
- |
1 |
19-17025584-G-A |
c.3669C>T |
p.R1223= |
Synonymous |
28/42 |
- |
2 |
19-17025585-C-T |
c.3668G>A |
p.R1223H |
Missense |
28/42 |
- |
8 |
19-17025586-G-A |
c.3667C>T |
p.R1223C |
Missense |
28/42 |
- |
2 |
19-17025590-C-A |
c.3663G>T |
p.Q1221H |
Missense |
28/42 |
- |
1 |
19-17025595-C-T |
c.3658G>A |
p.A1220T |
Missense |
28/42 |
- |
6 |
19-17025596-G-A |
c.3657C>T |
p.F1219= |
Synonymous |
28/42 |
- |
3 |
19-17025599-G-A |
c.3654C>T |
p.S1218= |
Synonymous |
28/42 |
- |
3 |
19-17025600-G-C |
c.3653C>G |
p.S1218C |
Missense |
28/42 |
- |
1 |
19-17025601-A-C |
c.3652T>G |
p.S1218A |
Missense |
28/42 |
- |
1 |
19-17025605-C-T |
c.3648G>A |
p.L1216= |
Synonymous |
28/42 |
- |
3 |
19-17025615-G-A |
c.3638C>T |
p.A1213V |
Missense |
28/42 |
- |
3 |
19-17025616-C-T |
c.3637G>A |
p.A1213T |
Missense |
28/42 |
- |
2 |
19-17025618-G-A |
c.3635C>T |
p.T1212I |
Missense |
28/42 |
- |
1 |
19-17025618-G-T |
c.3635C>A |
p.T1212K |
Missense |
28/42 |
- |
1 |
19-17025623-C-A |
c.3630G>T |
p.W1210C |
Missense |
28/42 |
- |
1 |
19-17025623-C-G |
c.3630G>C |
p.W1210C |
Missense |
28/42 |
- |
1 |
19-17030668-A-C |
c.3629+2047T>G |
- |
intron_variant |
- |
27/41 |
1 |
19-17032260-C-T |
c.3629+455G>A |
- |
intron_variant |
- |
27/41 |
1 |
19-17032315-C-G |
c.3629+400G>C |
- |
IntronicSNV |
- |
27/41 |
1 |
19-17032492-ACAG-A |
c.3629+220_3629+222del |
- |
IntronicDeletion |
- |
27/41 |
2 |
19-17032550-A-G |
c.3629+165T>C |
- |
intron_variant |
- |
27/41 |
3 |
19-17032559-T-C |
c.3629+156A>G |
- |
IntronicSNV |
- |
27/41 |
3 |
19-17032667-G-A |
c.3629+48C>T |
- |
intron_variant |
- |
27/41 |
1 |
19-17032715-C-T |
c.3629G>A |
p.W1210* |
Nonsense |
27/42 |
- |
1 |
19-17032719-T-A |
c.3625A>T |
p.M1209L |
Missense |
27/42 |
- |
1 |
19-17032723-C-T |
c.3621G>A |
p.G1207= |
Synonymous |
27/42 |
- |
1 |
19-17032724-C-T |
c.3620G>A |
p.G1207E |
Missense |
27/42 |
- |
1 |
19-17032725-C-G |
c.3619G>C |
p.G1207R |
Missense |
27/42 |
- |
2 |
19-17032725-C-T |
c.3619G>A |
p.G1207R |
Missense |
27/42 |
- |
2 |
19-17032726-C-A |
c.3618G>T |
p.S1206= |
Synonymous |
27/42 |
- |
2 |
19-17032726-C-G |
c.3618G>C |
p.S1206= |
Synonymous |
27/42 |
- |
1 |
19-17032726-C-T |
c.3618G>A |
p.S1206= |
Synonymous |
27/42 |
- |
3 |
19-17032727-G-A |
c.3617C>T |
p.S1206L |
Missense |
27/42 |
- |
1 |
19-17032731-C-T |
c.3613G>A |
p.A1205T |
Missense |
27/42 |
- |
2 |
19-17032734-C-T |
c.3610G>A |
p.D1204N |
Missense |
27/42 |
- |
2 |
19-17032736-C-T |
c.3608G>A |
p.R1203Q |
Missense |
27/42 |
- |
1 |
19-17032740-C-A |
c.3604G>T |
p.E1202* |
Nonsense |
27/42 |
- |
1 |
19-17032749-C-T |
c.3595G>A |
p.A1199T |
Missense |
27/42 |
- |
1 |
19-17032750-G-A |
c.3594C>T |
p.S1198= |
Synonymous |
27/42 |
- |
4 |
19-17032750-G-C |
c.3594C>G |
p.S1198R |
Missense |
27/42 |
- |
1 |
19-17032750-G-T |
c.3594C>A |
p.S1198R |
Missense |
27/42 |
- |
1 |
19-17032751-C-T |
c.3593G>A |
p.S1198N |
Missense |
27/42 |
- |
3 |
19-17032752-T-G |
c.3592A>C |
p.S1198R |
Missense |
27/42 |
- |
2 |
19-17032757-G-A |
c.3587C>T |
p.S1196F |
Missense |
27/42 |
- |
3 |
19-17032757-G-C |
c.3587C>G |
p.S1196C |
Missense |
27/42 |
- |
2 |
19-17032764-C-T |
c.3580G>A |
p.D1194N |
Missense |
27/42 |
- |
1 |
19-17032765-C-T |
c.3579G>A |
p.Q1193= |
Synonymous |
27/42 |
- |
1 |
19-17032769-C-T |
c.3575G>A |
p.R1192H |
Missense |
27/42 |
- |
4 |
19-17032770-G-T |
c.3574C>A |
p.R1192S |
Missense |
27/42 |
- |
1 |
19-17032776-A-G |
c.3568T>C |
p.Y1190H |
Missense |
27/42 |
- |
1 |
19-17032781-A-G |
c.3563T>C |
p.L1188P |
Missense |
27/42 |
- |
1 |
19-17032782-G-T |
c.3562C>A |
p.L1188M |
Missense |
27/42 |
- |
1 |
19-17032787-C-T |
c.3557G>A |
p.R1186H |
Missense |
27/42 |
- |
1 |
19-17032788-G-A |
c.3556C>T |
p.R1186C |
Missense |
27/42 |
- |
1 |
19-17032791-G-A |
c.3553C>T |
p.Q1185* |
Nonsense |
27/42 |
- |
1 |
19-17032969-T-C |
c.3548-173A>G |
- |
intron_variant |
- |
26/41 |
3 |
19-17034259-C-T |
c.3548-1463G>A |
- |
intron_variant |
- |
26/41 |
1 |
19-17035898-C-A |
c.3547+108G>T |
- |
intron_variant |
- |
26/41 |
2 |
19-17036006-C-G |
c.3547G>C |
p.G1183R |
Missense |
26/42 |
- |
1 |
19-17036006-C-T |
c.3547G>A |
p.G1183S |
Missense |
26/42 |
- |
1 |
19-17036012-C-A |
c.3541G>T |
p.V1181L |
Missense |
26/42 |
- |
1 |
19-17036012-C-T |
c.3541G>A |
p.V1181I |
Missense |
26/42 |
- |
2 |
19-17036016-G-A |
c.3537C>T |
p.Y1179= |
Synonymous |
26/42 |
- |
1 |
19-17036024-T-C |
c.3529A>G |
p.T1177A |
Missense |
26/42 |
- |
3 |
19-17036025-G-A |
c.3528C>T |
p.T1176= |
Synonymous |
26/42 |
- |
1 |
19-17036026-G-A |
c.3527C>T |
p.T1176I |
Missense |
26/42 |
- |
1 |
19-17036028-C-A |
c.3525G>T |
p.E1175D |
Missense |
26/42 |
- |
1 |
19-17036028-C-G |
c.3525G>C |
p.E1175D |
Missense |
26/42 |
- |
1 |
19-17036031-TCT-CCA |
c.3520_3522delinsTGG |
p.R1174W |
Missense |
26/42 |
- |
1 |
19-17036032-C-G |
c.3521G>C |
p.R1174T |
Missense |
26/42 |
- |
1 |
19-17036032-C-T |
c.3521G>A |
p.R1174K |
Missense |
26/42 |
- |
3 |
19-17036033-T-C |
c.3520A>G |
p.R1174G |
Missense |
26/42 |
- |
1 |
19-17036036-C-A |
c.3517G>T |
p.E1173* |
Nonsense |
26/42 |
- |
1 |
19-17036037-C-T |
c.3516G>A |
p.V1172= |
Synonymous |
26/42 |
- |
1 |
19-17036039-C-T |
c.3514G>A |
p.V1172M |
Missense |
26/42 |
- |
1 |
19-17036045-G-A |
c.3508C>T |
p.P1170S |
Missense |
26/42 |
- |
1 |
19-17036051-G-T |
c.3502C>A |
p.L1168I |
Missense |
26/42 |
- |
1 |
19-17036052-C-G |
c.3501G>C |
p.Q1167H |
Missense |
26/42 |
- |
1 |
19-17036054-G-A |
c.3499C>T |
p.Q1167* |
Nonsense |
26/42 |
- |
1 |
19-17036058-G-C |
c.3495C>G |
p.T1165= |
Synonymous |
26/42 |
- |
1 |
19-17036063-T-A |
c.3490A>T |
p.K1164* |
Nonsense |
26/42 |
- |
1 |
19-17036066-G-A |
c.3487C>T |
p.Q1163* |
Nonsense |
26/42 |
- |
4 |
19-17036071-T-C |
c.3482A>G |
p.Y1161C |
Missense |
26/42 |
- |
1 |
19-17036073-C-T |
c.3480G>A |
p.K1160= |
Synonymous |
26/42 |
- |
1 |
19-17036076-C-A |
c.3477G>T |
p.L1159F |
Missense |
26/42 |
- |
1 |
19-17036076-C-T |
c.3477G>A |
p.L1159= |
Synonymous |
26/42 |
- |
2 |
19-17036078-A-G |
c.3475T>C |
p.L1159= |
Synonymous |
26/42 |
- |
2 |
19-17036079-G-A |
c.3474C>T |
p.V1158= |
Synonymous |
26/42 |
- |
4 |
19-17036087-C-T |
c.3466G>A |
p.V1156I |
missense_variant |
26/42 |
- |
8 |
19-17036089-T-C |
c.3464A>G |
p.N1155S |
Missense |
26/42 |
- |
1 |
19-17036092-G-T |
c.3461C>A |
p.P1154H |
Missense |
26/42 |
- |
1 |
19-17036095-G-A |
c.3458C>T |
p.A1153V |
Missense |
26/42 |
- |
1 |
19-17036096-C-A |
c.3457G>T |
p.A1153S |
Missense |
26/42 |
- |
2 |
19-17036101-T-C |
c.3452A>G |
p.H1151R |
Missense |
26/42 |
- |
1 |
19-17036103-G-A |
c.3450C>T |
p.I1150= |
Synonymous |
26/42 |
- |
1 |
19-17036106-C-A |
c.3447G>T |
p.M1149I |
Missense |
26/42 |
- |
1 |
19-17036106-C-G |
c.3447G>C |
p.M1149I |
Missense |
26/42 |
- |
1 |
19-17036106-C-T |
c.3447G>A |
p.M1149I |
Missense |
26/42 |
- |
3 |
19-17036107-A-G |
c.3446T>C |
p.M1149T |
Missense |
26/42 |
- |
2 |
19-17036108-T-C |
c.3445A>G |
p.M1149V |
Missense |
26/42 |
- |
1 |
19-17036120-C-T |
c.3433G>A |
p.G1145R |
Missense |
26/42 |
- |
1 |
19-17036123-A-C |
c.3430T>G |
p.C1144G |
Missense |
26/42 |
- |
4 |
19-17036129-A-G |
c.3424T>C |
p.F1142L |
Missense |
26/42 |
- |
1 |
19-17036130-C-A |
c.3423G>T |
p.P1141= |
Synonymous |
26/42 |
- |
2 |
19-17036130-C-G |
c.3423G>C |
p.P1141= |
Synonymous |
26/42 |
- |
2 |
19-17036130-C-T |
c.3423G>A |
p.P1141= |
Synonymous |
26/42 |
- |
3 |
19-17036131-G-A |
c.3422C>T |
p.P1141L |
Missense |
26/42 |
- |
1 |
19-17036136-CC-AT |
c.3416_3417delinsAT |
p.R1139H |
Missense |
26/42 |
- |
1 |
19-17036137-C-G |
c.3416G>C |
p.R1139P |
Missense |
26/42 |
- |
2 |
19-17036137-C-T |
c.3416G>A |
p.R1139Q |
Missense |
26/42 |
- |
2 |
19-17036136-C-A |
c.3417G>T |
p.R1139= |
Synonymous |
26/42 |
- |
1 |
19-17036136-C-G |
c.3417G>C |
p.R1139= |
Synonymous |
26/42 |
- |
1 |
19-17036136-C-T |
c.3417G>A |
p.R1139= |
Synonymous |
26/42 |
- |
1 |
19-17036138-G-T |
c.3415C>A |
p.R1139= |
Synonymous |
26/42 |
- |
1 |
19-17036142-G-A |
c.3411C>T |
p.L1137= |
Synonymous |
26/42 |
- |
1 |
19-17036144-G-A |
c.3409C>T |
p.L1137F |
Missense |
26/42 |
- |
1 |
19-17036149-T-C |
c.3404A>G |
p.N1135S |
Missense |
26/42 |
- |
2 |
19-17036152-A-G |
c.3401T>C |
p.L1134P |
Missense |
26/42 |
- |
1 |
19-17036153-G-A |
c.3400C>T |
p.L1134F |
Missense |
26/42 |
- |
1 |
19-17036156-G-A |
c.3397C>T |
p.H1133Y |
Missense |
26/42 |
- |
1 |
19-17036160-CAG-AAA |
c.3391_3393delinsTTT |
p.L1131F |
Missense |
26/42 |
- |
1 |
19-17036167-G-A |
c.3386C>T |
p.P1129L |
Missense |
26/42 |
- |
3 |
19-17036170-C-T |
c.3383G>A |
p.G1128E |
Missense |
26/42 |
- |
1 |
19-17036175-G-A |
c.3378C>T |
p.V1126= |
Synonymous |
26/42 |
- |
2 |
19-17036177-C-A |
c.3376G>T |
p.V1126F |
Missense |
26/42 |
- |
1 |
19-17036177-C-T |
c.3376G>A |
p.V1126I |
Missense |
26/42 |
- |
2 |
19-17036178-G-A |
c.3375C>T |
p.D1125= |
Synonymous |
26/42 |
- |
1 |
19-17036181-C-T |
c.3372G>A |
p.G1124= |
Synonymous |
26/42 |
- |
2 |
19-17036182-C-G |
c.3371G>C |
p.G1124A |
Missense |
26/42 |
- |
1 |
19-17036182-C-T |
c.3371G>A |
p.G1124E |
Missense |
26/42 |
- |
5 |
19-17036195-A-T |
c.3371-13T>A |
- |
splice_polypyrimidine_tract_variant,intron_variant |
- |
25/41 |
1 |
19-17038773-C-G |
c.3370+46G>C |
- |
intron_variant |
- |
25/41 |
1 |
19-17038773-C-T |
c.3370+46G>A |
- |
intron_variant |
- |
25/41 |
1 |
19-17038814-C-T |
c.3370+5G>A |
- |
IntronicSNV |
- |
25/41 |
1 |
19-17038815-G-A |
c.3370+4C>T |
- |
splice_donor_region_variant,intron_variant |
- |
25/41 |
1 |
19-17038818-C-T |
c.3370+1G>A |
- |
IntronicSNV |
- |
25/41 |
2 |
19-17038819-C-G |
c.3370G>C |
p.G1124R |
Missense |
25/42 |
- |
1 |
19-17038819-C-T |
c.3370G>A |
p.G1124R |
Missense |
25/42 |
- |
3 |
19-17038820-G-C |
c.3369C>G |
p.I1123M |
Missense |
25/42 |
- |
1 |
19-17038825-T-C |
c.3364A>G |
p.I1122V |
Missense |
25/42 |
- |
1 |
19-17038826-G-A |
c.3363C>T |
p.S1121= |
Synonymous |
25/42 |
- |
3 |
19-17038827-G-A |
c.3362C>T |
p.S1121F |
Missense |
25/42 |
- |
1 |
19-17038831-C-T |
c.3358G>A |
p.A1120T |
Missense |
25/42 |
- |
5 |
19-17038832-G-A |
c.3357C>T |
p.T1119= |
Synonymous |
25/42 |
- |
1 |
19-17038832-G-C |
c.3357C>G |
p.T1119= |
Synonymous |
25/42 |
- |
1 |
19-17038832-G-T |
c.3357C>A |
p.T1119= |
Synonymous |
25/42 |
- |
1 |
19-17038833-G-A |
c.3356C>T |
p.T1119I |
Missense |
25/42 |
- |
3 |
19-17038836-G-A |
c.3353C>T |
p.A1118V |
Missense |
25/42 |
- |
1 |
19-17038839-C-T |
c.3350G>A |
p.R1117Q |
Missense |
25/42 |
- |
11 |
19-17038840-G-A |
c.3349C>T |
p.R1117* |
Nonsense |
25/42 |
- |
2 |
19-17038841-C-A |
c.3348G>T |
p.E1116D |
Missense |
25/42 |
- |
1 |
19-17038841-C-G |
c.3348G>C |
p.E1116D |
Missense |
25/42 |
- |
1 |
19-17038843-C-T |
c.3346G>A |
p.E1116K |
Missense |
25/42 |
- |
2 |
19-17038851-G-C |
c.3338C>G |
p.P1113R |
Missense |
25/42 |
- |
1 |
19-17038851-G-T |
c.3338C>A |
p.P1113H |
Missense |
25/42 |
- |
1 |
19-17038852-G-A |
c.3337C>T |
p.P1113S |
Missense |
25/42 |
- |
2 |
19-17038853-G-A |
c.3336C>T |
p.I1112= |
Synonymous |
25/42 |
- |
1 |
19-17038855-T-C |
c.3334A>G |
p.I1112V |
Missense |
25/42 |
- |
1 |
19-17038857-G-A |
c.3332C>T |
p.A1111V |
Missense |
25/42 |
- |
1 |
19-17038857-G-T |
c.3332C>A |
p.A1111D |
Missense |
25/42 |
- |
1 |
19-17038858-C-T |
c.3331G>A |
p.A1111T |
Missense |
25/42 |
- |
4 |
19-17038859-G-A |
c.3330C>T |
p.G1110= |
Synonymous |
25/42 |
- |
4 |
19-17038859-G-C |
c.3330C>G |
p.G1110= |
Synonymous |
25/42 |
- |
2 |
19-17038859-G-T |
c.3330C>A |
p.G1110= |
Synonymous |
25/42 |
- |
2 |
19-17038862-G-A |
c.3327C>T |
p.H1109= |
Synonymous |
25/42 |
- |
2 |
19-17038862-G-C |
c.3327C>G |
p.H1109Q |
Missense |
25/42 |
- |
1 |
19-17038862-G-T |
c.3327C>A |
p.H1109Q |
Missense |
25/42 |
- |
1 |
19-17038863-T-C |
c.3326A>G |
p.H1109R |
Missense |
25/42 |
- |
1 |
19-17038866-G-T |
c.3323C>A |
p.P1108Q |
Missense |
25/42 |
- |
1 |
19-17038867-G-A |
c.3322C>T |
p.P1108S |
Missense |
25/42 |
- |
1 |
19-17038868-G-A |
c.3321C>T |
p.V1107= |
Synonymous |
25/42 |
- |
1 |
19-17038868-G-C |
c.3321C>G |
p.V1107= |
Synonymous |
25/42 |
- |
1 |
19-17038868-G-T |
c.3321C>A |
p.V1107= |
Synonymous |
25/42 |
- |
1 |
19-17038873-C-T |
c.3316G>A |
p.G1106R |
Missense |
25/42 |
- |
1 |
19-17038874-C-T |
c.3315G>A |
p.L1105= |
Synonymous |
25/42 |
- |
3 |
19-17038875-A-G |
c.3314T>C |
p.L1105P |
Missense |
25/42 |
- |
1 |
19-17038878-G-A |
c.3311C>T |
p.T1104I |
Missense |
25/42 |
- |
5 |
19-17038880-G-A |
c.3309C>T |
p.F1103= |
Synonymous |
25/42 |
- |
1 |
19-17038883-G-T |
c.3306C>A |
p.A1102= |
Synonymous |
25/42 |
- |
1 |
19-17038884-G-A |
c.3305C>T |
p.A1102V |
Missense |
25/42 |
- |
1 |
19-17038885-C-G |
c.3304G>C |
p.A1102P |
Missense |
25/42 |
- |
2 |
19-17038888-C-T |
c.3301G>A |
p.E1101K |
Missense |
25/42 |
- |
4 |
19-17038889-G-A |
c.3300C>T |
p.S1100S |
synonymous_variant |
25/42 |
- |
2 |
19-17038892-G-T |
c.3297C>A |
p.Y1099* |
Nonsense |
25/42 |
- |
1 |
19-17038893-T-C |
c.3296A>G |
p.Y1099C |
Missense |
25/42 |
- |
4 |
19-17038894-A-G |
c.3295T>C |
p.Y1099H |
Missense |
25/42 |
- |
4 |
19-17038900-C-T |
c.3289G>A |
p.E1097K |
Missense |
25/42 |
- |
6 |
19-17038904-C-T |
c.3285G>A |
p.V1095= |
Synonymous |
25/42 |
- |
1 |
19-17038905-A-G |
c.3284T>C |
p.V1095A |
Missense |
25/42 |
- |
1 |
19-17038906-C-A |
c.3283G>T |
p.V1095L |
Missense |
25/42 |
- |
1 |
19-17038906-C-T |
c.3283G>A |
p.V1095M |
Missense |
25/42 |
- |
1 |
19-17038909-C-A |
c.3280G>T |
p.E1094* |
Nonsense |
25/42 |
- |
1 |
19-17038912-T-C |
c.3277A>G |
p.M1093V |
Missense |
25/42 |
- |
2 |
19-17038917-C-T |
c.3272G>A |
p.R1091K |
Missense |
25/42 |
- |
1 |
19-17038922-G-C |
c.3267C>G |
p.I1089M |
Missense |
25/42 |
- |
1 |
19-17038925-TCG-ACA |
c.3262_3264delinsTGT |
p.R1088C |
Missense |
25/42 |
- |
1 |
19-17038926-C-T |
c.3263G>A |
p.R1088Q |
Missense |
25/42 |
- |
11 |
19-17038927-G-A |
c.3262C>T |
p.R1088* |
Nonsense |
25/42 |
- |
4 |
19-17038928-G-A |
c.3261C>T |
p.F1087= |
Synonymous |
25/42 |
- |
1 |
19-17038938-A-G |
c.3251T>C |
p.M1084T |
Missense |
25/42 |
- |
1 |
19-17038941-GA-AG |
c.3247_3248delinsCT |
p.S1083L |
Missense |
25/42 |
- |
1 |
19-17038946-C-T |
c.3243G>A |
p.W1081* |
Nonsense |
25/42 |
- |
1 |
19-17038947-C-T |
c.3242G>A |
p.W1081* |
Nonsense |
25/42 |
- |
1 |
19-17038948-A-G |
c.3241T>C |
p.W1081R |
Missense |
25/42 |
- |
1 |
19-17038948-A-T |
c.3241T>A |
p.W1081R |
Missense |
25/42 |
- |
1 |
19-17038951-C-T |
c.3238G>A |
p.G1080S |
Missense |
25/42 |
- |
1 |
19-17038952-G-A |
c.3237C>T |
p.T1079= |
Synonymous |
25/42 |
- |
2 |
19-17038952-G-C |
c.3237C>G |
p.T1079= |
Synonymous |
25/42 |
- |
1 |
19-17038952-G-T |
c.3237C>A |
p.T1079= |
Synonymous |
25/42 |
- |
3 |
19-17038953-G-A |
c.3236C>T |
p.T1079I |
Missense |
25/42 |
- |
1 |
19-17038954-T-C |
c.3235A>G |
p.T1079A |
Missense |
25/42 |
- |
1 |
19-17038955-G-A |
c.3234C>T |
p.S1078= |
Synonymous |
25/42 |
- |
2 |
19-17038956-G-A |
c.3233C>T |
p.S1078F |
Missense |
25/42 |
- |
6 |
19-17038967-G-A |
c.3222C>T |
p.F1074= |
Synonymous |
25/42 |
- |
1 |
19-17038971-T-C |
c.3218A>G |
p.Q1073R |
Missense |
25/42 |
- |
1 |
19-17038973-G-A |
c.3216C>T |
p.V1072= |
Synonymous |
25/42 |
- |
1 |
19-17038976-C-A |
c.3213G>T |
p.E1071D |
Missense |
25/42 |
- |
2 |
19-17038976-C-G |
c.3213G>C |
p.E1071D |
Missense |
25/42 |
- |
1 |
19-17038976-C-T |
c.3213G>A |
p.E1071= |
Synonymous |
25/42 |
- |
1 |
19-17038981-G-A |
c.3208C>T |
p.P1070S |
Missense |
25/42 |
- |
1 |
19-17038981-G-T |
c.3208C>A |
p.P1070T |
Missense |
25/42 |
- |
2 |
19-17038984-G-A |
c.3205C>T |
p.P1069S |
Missense |
25/42 |
- |
3 |
19-17038989-G-A |
c.3200C>T |
p.P1067L |
Missense |
25/42 |
- |
2 |
19-17038993-G-A |
c.3196C>T |
p.L1066F |
Missense |
25/42 |
- |
1 |
19-17038999-AG-A |
c.3189del |
p.W1064Gfs*68 |
Frameshift |
25/42 |
- |
1 |
19-17039001-G-A |
c.3188C>T |
p.A1063V |
Missense |
25/42 |
- |
1 |
19-17039002-C-T |
c.3187G>A |
p.A1063T |
Missense |
25/42 |
- |
1 |
19-17039004-A-C |
c.3185T>G |
p.V1062G |
Missense |
25/42 |
- |
1 |
19-17039005-C-T |
c.3184G>A |
p.V1062M |
Missense |
25/42 |
- |
1 |
19-17039007-A-G |
c.3182T>C |
p.I1061T |
Missense |
25/42 |
- |
1 |
19-17039008-T-A |
c.3181A>T |
p.I1061F |
Missense |
25/42 |
- |
2 |
19-17039014-A-G |
c.3175T>C |
p.S1059P |
Missense |
25/42 |
- |
1 |
19-17039016-T-G |
c.3173A>C |
p.E1058A |
Missense |
25/42 |
- |
1 |
19-17039019-T-C |
c.3170A>G |
p.N1057S |
Missense |
25/42 |
- |
7 |
19-17039020-T-A |
c.3169A>T |
p.N1057Y |
Missense |
25/42 |
- |
1 |
19-17039021-G-A |
c.3168C>T |
p.S1056= |
Synonymous |
25/42 |
- |
1 |
19-17039021-G-C |
c.3168C>G |
p.S1056= |
Synonymous |
25/42 |
- |
2 |
19-17039021-G-T |
c.3168C>A |
p.S1056= |
Synonymous |
25/42 |
- |
1 |
19-17039022-G-A |
c.3167C>T |
p.S1056F |
Missense |
25/42 |
- |
2 |
19-17039023-A-C |
c.3166T>G |
p.S1056A |
Missense |
25/42 |
- |
3 |
19-17039024-T-A |
c.3165A>T |
p.P1055= |
Synonymous |
25/42 |
- |
1 |
19-17039028-T-C |
c.3161A>G |
p.E1054G |
Missense |
25/42 |
- |
1 |
19-17039034-C-T |
c.3155G>A |
p.G1052D |
Missense |
25/42 |
- |
1 |
19-17039035-C-A |
c.3154G>T |
p.G1052C |
Missense |
25/42 |
- |
1 |
19-17039035-C-T |
c.3154G>A |
p.G1052S |
Missense |
25/42 |
- |
1 |
19-17039038-G-A |
c.3151C>T |
p.H1051Y |
Missense |
25/42 |
- |
1 |
19-17039040-C-T |
c.3149G>A |
p.G1050D |
Missense |
25/42 |
- |
1 |
19-17039041-C-T |
c.3148G>A |
p.G1050S |
Missense |
25/42 |
- |
1 |
19-17039579-G-GT |
c.3144+172dup |
- |
IntronicInsertion |
- |
24/41 |
1 |
19-17039579-GT-G |
c.3144+172del |
- |
IntronicDeletion |
- |
24/41 |
1 |
19-17039769-G-A |
c.3127C>T |
p.R1043C |
missense_variant |
24/42 |
- |
2 |
19-17039769-G-T |
c.3127C>A |
p.R1043S |
Missense |
24/42 |
- |
5 |
19-17039770-C-A |
c.3126G>T |
p.W1042C |
Missense |
24/42 |
- |
1 |
19-17039770-C-G |
c.3126G>C |
p.W1042C |
Missense |
24/42 |
- |
1 |
19-17039776-G-A |
c.3120C>T |
p.I1040= |
Synonymous |
24/42 |
- |
3 |
19-17039777-A-G |
c.3119T>C |
p.I1040T |
Missense |
24/42 |
- |
1 |
19-17039779-C-T |
c.3117G>A |
p.W1039* |
Nonsense |
24/42 |
- |
2 |
19-17039782-G-A |
c.3114C>T |
p.F1038= |
Synonymous |
24/42 |
- |
2 |
19-17039789-C-G |
c.3107G>C |
p.R1036T |
Missense |
24/42 |
- |
6 |
19-17039796-C-T |
c.3100G>A |
p.E1034K |
Missense |
24/42 |
- |
5 |
19-17039799-C-T |
c.3097G>A |
p.D1033N |
Missense |
24/42 |
- |
1 |
19-17039800-C-T |
c.3096G>A |
p.W1032* |
Nonsense |
24/42 |
- |
2 |
19-17039806-G-A |
c.3090C>T |
p.L1030= |
Synonymous |
24/42 |
- |
1 |
19-17039806-G-C |
c.3090C>G |
p.L1030= |
Synonymous |
24/42 |
- |
1 |
19-17039806-G-T |
c.3090C>A |
p.L1030= |
Synonymous |
24/42 |
- |
1 |
19-17039808-G-C |
c.3088C>G |
p.L1030V |
Missense |
24/42 |
- |
1 |
19-17039812-C-A |
c.3084G>T |
p.K1028N |
Missense |
24/42 |
- |
1 |
19-17039817-C-T |
c.3079G>A |
p.A1027T |
Missense |
24/42 |
- |
3 |
19-17039818-C-A |
c.3078G>T |
p.T1026= |
Synonymous |
24/42 |
- |
1 |
19-17039818-C-G |
c.3078G>C |
p.T1026= |
Synonymous |
24/42 |
- |
1 |
19-17039818-C-T |
c.3078G>A |
p.T1026= |
Synonymous |
24/42 |
- |
1 |
19-17039824-T-A |
c.3072A>T |
p.A1024= |
Synonymous |
24/42 |
- |
1 |
19-17039826-C-T |
c.3070G>A |
p.A1024T |
Missense |
24/42 |
- |
1 |
19-17039834-A-G |
c.3062T>C |
p.V1021A |
Missense |
24/42 |
- |
2 |
19-17039834-A-T |
c.3062T>A |
p.V1021E |
Missense |
24/42 |
- |
1 |
19-17039835-C-T |
c.3061G>A |
p.V1021M |
Missense |
24/42 |
- |
1 |
19-17039836-G-A |
c.3060C>T |
p.P1020= |
Synonymous |
24/42 |
- |
1 |
19-17039836-G-C |
c.3060C>G |
p.P1020= |
Synonymous |
24/42 |
- |
1 |
19-17039836-G-T |
c.3060C>A |
p.P1020= |
Synonymous |
24/42 |
- |
1 |
19-17039838-G-A |
c.3058C>T |
p.P1020S |
Missense |
24/42 |
- |
2 |
19-17039844-C-A |
c.3052G>T |
p.G1018* |
Nonsense |
24/42 |
- |
1 |
19-17039847-T-C |
c.3049A>G |
p.M1017V |
Missense |
24/42 |
- |
1 |
19-17039853-T-A |
c.3043A>T |
p.S1015C |
Missense |
24/42 |
- |
1 |
19-17039855-G-A |
c.3041C>T |
p.T1014I |
Missense |
24/42 |
- |
1 |
19-17039855-G-T |
c.3041C>A |
p.T1014N |
Missense |
24/42 |
- |
3 |
19-17039857-G-A |
c.3039C>T |
p.S1013= |
Synonymous |
24/42 |
- |
1 |
19-17039861-A-T |
c.3035T>A |
p.I1012N |
Missense |
24/42 |
- |
1 |
19-17039864-C-T |
c.3032G>A |
p.W1011* |
Nonsense |
24/42 |
- |
4 |
19-17039867-G-A |
c.3029C>T |
p.S1010L |
Missense |
24/42 |
- |
2 |
19-17039870-CT-TG |
c.3025_3026delinsCA |
p.R1009Q |
Missense |
24/42 |
- |
1 |
19-17039878-C-T |
c.3018G>A |
p.Q1006= |
Synonymous |
24/42 |
- |
1 |
19-17039884-C-T |
c.3012G>A |
p.G1004= |
Synonymous |
24/42 |
- |
1 |
19-17039885-C-T |
c.3011G>A |
p.G1004E |
Missense |
24/42 |
- |
1 |
19-17039886-C-G |
c.3010G>C |
p.G1004R |
Missense |
24/42 |
- |
2 |
19-17039887-C-A |
c.3009G>T |
p.G1003= |
Synonymous |
24/42 |
- |
1 |
19-17039887-C-G |
c.3009G>C |
p.G1003= |
Synonymous |
24/42 |
- |
1 |
19-17039887-C-T |
c.3009G>A |
p.G1003= |
Synonymous |
24/42 |
- |
1 |
19-17039888-C-A |
c.3008G>T |
p.G1003V |
Missense |
24/42 |
- |
1 |
19-17039888-C-G |
c.3008G>C |
p.G1003A |
Missense |
24/42 |
- |
1 |
19-17039883-GC-G |
c.3012del |
p.H1005Ifs*127 |
Frameshift |
24/42 |
- |
4 |
19-17039883-G-GC |
c.3012dup |
p.H1005Afs*30 |
Frameshift |
24/42 |
- |
2 |
19-17039891-A-C |
c.3005T>G |
p.L1002R |
Missense |
24/42 |
- |
1 |
19-17039895-C-T |
c.3001G>A |
p.V1001I |
Missense |
24/42 |
- |
6 |
19-17039896-G-A |
c.3000C>T |
p.I1000= |
Synonymous |
24/42 |
- |
7 |
19-17039896-G-T |
c.3000C>A |
p.I1000= |
Synonymous |
24/42 |
- |
1 |
19-17039899-C-T |
c.2997G>A |
p.E999= |
Synonymous |
24/42 |
- |
1 |
19-17039901-C-T |
c.2995G>A |
p.E999K |
Missense |
24/42 |
- |
2 |
19-17039902-G-A |
c.2994C>T |
p.I998= |
Synonymous |
24/42 |
- |
2 |
19-17039905-C-A |
c.2991G>T |
p.M997I |
Missense |
24/42 |
- |
2 |
19-17039905-C-G |
c.2991G>C |
p.M997I |
Missense |
24/42 |
- |
2 |
19-17039905-C-T |
c.2991G>A |
p.M997I |
Missense |
24/42 |
- |
2 |
19-17039907-T-C |
c.2989A>G |
p.M997V |
Missense |
24/42 |
- |
1 |
19-17039919-C-A |
c.2977G>T |
p.D993Y |
Missense |
24/42 |
- |
1 |
19-17039919-C-T |
c.2977G>A |
p.D993N |
Missense |
24/42 |
- |
4 |
19-17039920-C-T |
c.2976G>A |
p.Q992= |
Synonymous |
24/42 |
- |
2 |
19-17039921-T-C |
c.2975A>G |
p.Q992R |
Missense |
24/42 |
- |
2 |
19-17039924-G-A |
c.2972C>T |
p.P991L |
Missense |
24/42 |
- |
1 |
19-17039927-C-G |
c.2969G>C |
p.G990A |
Missense |
24/42 |
- |
1 |
19-17039931-A-T |
c.2965T>A |
p.S989T |
Missense |
24/42 |
- |
7 |
19-17039933-G-A |
c.2963C>T |
p.S988F |
Missense |
24/42 |
- |
1 |
19-17039937-A-G |
c.2959T>C |
p.L987= |
Synonymous |
24/42 |
- |
1 |
19-17039941-C-T |
c.2955G>A |
p.V985= |
Synonymous |
24/42 |
- |
1 |
19-17039945-C-T |
c.2951G>A |
p.R984H |
Missense |
24/42 |
- |
1 |
19-17039946-G-A |
c.2950C>T |
p.R984C |
Missense |
24/42 |
- |
2 |
19-17039947-GG-CT |
c.2948_2949delinsAG |
p.A983E |
Missense |
24/42 |
- |
1 |
19-17039948-G-A |
c.2948C>T |
p.A983V |
Missense |
24/42 |
- |
4 |
19-17039964-G-A |
c.2932C>T |
p.R978* |
stop_gained |
24/42 |
- |
1 |
19-17039964-G-T |
c.2932C>A |
p.R978R |
synonymous_variant |
24/42 |
- |
1 |
19-17039976-C-T |
c.2920G>A |
p.D974N |
Missense |
24/42 |
- |
5 |
19-17039977-A-C |
c.2919T>G |
p.F973L |
Missense |
24/42 |
- |
1 |
19-17039978-A-G |
c.2918T>C |
p.F973S |
Missense |
24/42 |
- |
1 |
19-17039981-C-T |
c.2915G>A |
p.R972H |
Missense |
24/42 |
- |
3 |
19-17039982-G-A |
c.2914C>T |
p.R972C |
Missense |
24/42 |
- |
3 |
19-17039990-C-A |
c.2906G>T |
p.R969L |
Missense |
24/42 |
- |
1 |
19-17039990-C-T |
c.2906G>A |
p.R969H |
Missense |
24/42 |
- |
1 |
19-17039991-G-A |
c.2905C>T |
p.R969C |
Missense |
24/42 |
- |
2 |
19-17039991-G-T |
c.2905C>A |
p.R969S |
Missense |
24/42 |
- |
2 |
19-17039993-A-G |
c.2903T>C |
p.L968P |
Missense |
24/42 |
- |
1 |
19-17039999-C-T |
c.2897G>A |
p.R966Q |
Missense |
24/42 |
- |
1 |
19-17040000-G-A |
c.2896C>T |
p.R966W |
Missense |
24/42 |
- |
1 |
19-17040001-C-T |
c.2895G>A |
p.Q965= |
Synonymous |
24/42 |
- |
1 |
19-17040002-T-A |
c.2894A>T |
p.Q965L |
Missense |
24/42 |
- |
2 |
19-17040002-T-C |
c.2894A>G |
p.Q965R |
Missense |
24/42 |
- |
1 |
19-17040007-A-G |
c.2889T>C |
p.Y963= |
Synonymous |
24/42 |
- |
3 |
19-17040011-T-C |
c.2885A>G |
p.Q962R |
Missense |
24/42 |
- |
2 |
19-17040015-A-T |
c.2881T>A |
p.F961I |
Missense |
24/42 |
- |
1 |
19-17040017-T-C |
c.2879A>G |
p.E960G |
Missense |
24/42 |
- |
2 |
19-17040018-C-T |
c.2878G>A |
p.E960K |
Missense |
24/42 |
- |
1 |
19-17040019-A-C |
c.2877T>G |
p.Y959* |
Nonsense |
24/42 |
- |
1 |
19-17040019-A-T |
c.2877T>A |
p.Y959* |
Nonsense |
24/42 |
- |
1 |
19-17040020-T-G |
c.2876A>C |
p.Y959S |
Missense |
24/42 |
- |
1 |
19-17040029-G-C |
c.2867C>G |
p.P956R |
Missense |
24/42 |
- |
1 |
19-17040030-G-A |
c.2866C>T |
p.P956S |
Missense |
24/42 |
- |
1 |
19-17040036-A-C |
c.2860T>G |
p.S954A |
Missense |
24/42 |
- |
1 |
19-17040037-G-T |
c.2859C>A |
p.I953= |
Synonymous |
24/42 |
- |
1 |
19-17040046-T-G |
c.2850A>C |
p.R950S |
Missense |
24/42 |
- |
1 |
19-17040047-C-T |
c.2849G>A |
p.R950K |
Missense |
24/42 |
- |
3 |
19-17040048-T-A |
c.2848A>T |
p.R950* |
Nonsense |
24/42 |
- |
1 |
19-17040049-C-G |
c.2847G>C |
p.E949D |
Missense |
24/42 |
- |
1 |
19-17040049-C-T |
c.2847G>A |
p.E949= |
Synonymous |
24/42 |
- |
1 |
19-17049206-A-T |
c.2844T>A |
p.S948R |
Missense |
23/42 |
- |
1 |
19-17049207-C-A |
c.2843G>T |
p.S948I |
Missense |
23/42 |
- |
1 |
19-17049210-G-A |
c.2840C>T |
p.P947L |
Missense |
23/42 |
- |
1 |
19-17049215-G-A |
c.2835C>T |
p.F945= |
Synonymous |
23/42 |
- |
1 |
19-17049216-A-G |
c.2834T>C |
p.F945S |
Missense |
23/42 |
- |
1 |
19-17049218-G-A |
c.2832C>T |
p.F944= |
Synonymous |
23/42 |
- |
1 |
19-17049225-CT-AG |
c.2824_2825inv |
p.S942L |
Missense |
23/42 |
- |
1 |
19-17049226-T-A |
c.2824A>T |
p.S942C |
Missense |
23/42 |
- |
1 |
19-17049230-G-A |
c.2820C>T |
p.T940= |
Synonymous |
23/42 |
- |
1 |
19-17049230-G-C |
c.2820C>G |
p.T940= |
Synonymous |
23/42 |
- |
1 |
19-17049238-C-T |
c.2812G>A |
p.A938T |
Missense |
23/42 |
- |
4 |
19-17049239-CCG-GCT |
c.2809_2811delinsAGC |
p.R937S |
Missense |
23/42 |
- |
1 |
19-17049240-C-A |
c.2810G>T |
p.R937L |
Missense |
23/42 |
- |
2 |
19-17049240-C-T |
c.2810G>A |
p.R937Q |
Missense |
23/42 |
- |
2 |
19-17049243-G-A |
c.2948C>T |
p.A983V |
Missense |
24/42 |
- |
1 |
19-17049244-G-A |
c.2806C>T |
p.P936S |
Missense |
23/42 |
- |
2 |
19-17049244-G-T |
c.2806C>A |
p.P936T |
Missense |
23/42 |
- |
1 |
19-17049245-G-A |
c.2805C>T |
p.V935= |
Synonymous |
23/42 |
- |
3 |
19-17049245-G-C |
c.2805C>G |
p.V935= |
Synonymous |
23/42 |
- |
1 |
19-17049245-G-T |
c.2805C>A |
p.V935= |
Synonymous |
23/42 |
- |
1 |
19-17049247-C-T |
c.2803G>A |
p.V935I |
Missense |
23/42 |
- |
3 |
19-17049249-CC-TT |
c.2800_2801delinsAA |
p.G934K |
Missense |
23/42 |
- |
2 |
19-17049249-C-T |
c.2801G>A |
p.G934E |
Missense |
23/42 |
- |
1 |
19-17049250-C-T |
c.2800G>A |
p.G934R |
Missense |
23/42 |
- |
1 |
19-17049251-T-A |
c.2799A>T |
p.E933D |
Missense |
23/42 |
- |
1 |
19-17049251-T-G |
c.2799A>C |
p.E933D |
Missense |
23/42 |
- |
1 |
19-17049253-C-T |
c.2797G>A |
p.E933K |
Missense |
23/42 |
- |
1 |
19-17049254-C-A |
c.2796G>T |
p.A932= |
Synonymous |
23/42 |
- |
3 |
19-17049254-C-G |
c.2796G>C |
p.A932= |
Synonymous |
23/42 |
- |
2 |
19-17049254-C-T |
c.2796G>A |
p.A932= |
Synonymous |
23/42 |
- |
3 |
19-17049255-G-A |
c.2795C>T |
p.A932V |
Missense |
23/42 |
- |
1 |
19-17049256-C-T |
c.2794G>A |
p.A932T |
Missense |
23/42 |
- |
1 |
19-17049325-C-A |
c.2794-69G>T |
- |
intron_variant |
- |
22/41 |
1 |
19-17050001-C-G |
c.2794-745G>C |
- |
intron_variant |
- |
22/41 |
1 |
19-17050001-C-T |
c.2794-745G>A |
- |
intron_variant |
- |
22/41 |
1 |
19-17050712-T-A |
c.2794-1456A>T |
- |
intron_variant |
- |
22/41 |
1 |
19-17050712-T-G |
c.2794-1456A>C |
- |
intron_variant |
- |
22/41 |
1 |
19-17056145-G-A |
c.2793+214C>T |
- |
IntronicSNV |
- |
22/41 |
1 |
19-17056294-G-C |
c.2793+65C>G |
- |
IntronicSNV |
- |
22/41 |
3 |
19-17056360-T-G |
c.2792A>C |
p.E931A |
Missense |
22/42 |
- |
1 |
19-17056363-A-G |
c.2789T>C |
p.V930A |
Missense |
22/42 |
- |
1 |
19-17056370-C-A |
c.2782G>T |
p.V928L |
Missense |
22/42 |
- |
1 |
19-17056370-C-T |
c.2782G>A |
p.V928M |
Missense |
22/42 |
- |
1 |
19-17056375-C-T |
c.2777G>A |
p.R926H |
Missense |
22/42 |
- |
1 |
19-17056376-G-A |
c.2776C>T |
p.R926C |
Missense |
22/42 |
- |
3 |
19-17056377-CCT-ACA |
c.2773_2775delinsTGT |
p.R925C |
Missense |
22/42 |
- |
1 |
19-17056377-C-T |
c.2775G>A |
p.R925= |
Synonymous |
22/42 |
- |
2 |
19-17056379-T-G |
c.2773A>C |
p.R925= |
Synonymous |
22/42 |
- |
1 |
19-17056378-C-T |
c.2774G>A |
p.R925K |
Missense |
22/42 |
- |
1 |
19-17056382-C-A |
c.2770G>T |
p.V924F |
Missense |
22/42 |
- |
1 |
19-17056388-C-T |
c.2764G>A |
p.D922N |
Missense |
22/42 |
- |
3 |
19-17056389-C-T |
c.2763G>A |
p.V921= |
Synonymous |
22/42 |
- |
3 |
19-17056392-C-T |
c.2760G>A |
p.G920= |
Synonymous |
22/42 |
- |
2 |
19-17056393-C-T |
c.2759G>A |
p.G920E |
Missense |
22/42 |
- |
3 |
19-17056394-C-T |
c.2758G>A |
p.G920R |
Missense |
22/42 |
- |
1 |
19-17056395-G-A |
c.2757C>T |
p.I919= |
Synonymous |
22/42 |
- |
1 |
19-17056397-T-A |
c.2755A>T |
p.I919F |
Missense |
22/42 |
- |
1 |
19-17056401-G-T |
c.2751C>A |
p.V917= |
Synonymous |
22/42 |
- |
1 |
19-17056403-C-A |
c.2749G>T |
p.V917F |
Missense |
22/42 |
- |
2 |
19-17056408-C-T |
c.2744G>A |
p.R915K |
Missense |
22/42 |
- |
3 |
19-17056412-C-T |
c.2740G>A |
p.D914N |
Missense |
22/42 |
- |
1 |
19-17056414-G-A |
c.2738C>T |
p.A913V |
Missense |
22/42 |
- |
1 |
19-17056415-C-A |
c.2737G>T |
p.A913S |
Missense |
22/42 |
- |
1 |
19-17056415-C-T |
c.2737G>A |
p.A913T |
Missense |
22/42 |
- |
3 |
19-17056416-G-A |
c.2736C>T |
p.H912= |
Synonymous |
22/42 |
- |
2 |
19-17056418-G-C |
c.2734C>G |
p.H912D |
Missense |
22/42 |
- |
1 |
19-17056421-TTCTCCTCA-T |
c.2724_2731del |
p.E909Sfs*20 |
Frameshift |
22/42 |
- |
1 |
19-17056424-C-T |
c.2728G>A |
p.E910K |
Missense |
22/42 |
- |
1 |
19-17056426-T-C |
c.2726A>G |
p.E909G |
Missense |
22/42 |
- |
1 |
19-17056430-G-A |
c.2722C>T |
p.P908S |
Missense |
22/42 |
- |
1 |
19-17056431-G-A |
c.2721C>T |
p.H907= |
Synonymous |
22/42 |
- |
2 |
19-17056434-T-C |
c.2718A>G |
p.K906= |
Synonymous |
22/42 |
- |
1 |
19-17056439-T-A |
c.2713A>T |
p.S905C |
Missense |
22/42 |
- |
1 |
19-17056444-C-T |
c.2708G>A |
p.R903K |
Missense |
22/42 |
- |
1 |
19-17056446-CCC-GCT |
c.2704_2706delinsAGC |
p.G902S |
Missense |
22/42 |
- |
1 |
19-17056447-C-T |
c.2705G>A |
p.G902E |
Missense |
22/42 |
- |
1 |
19-17056451-C-T |
c.2701G>A |
p.D901N |
Missense |
22/42 |
- |
2 |
19-17056453-C-A |
c.2699G>T |
p.R900L |
Missense |
22/42 |
- |
1 |
19-17056454-G-C |
c.2698C>G |
p.R900G |
Missense |
22/42 |
- |
1 |
19-17056455-G-A |
c.2697C>T |
p.C899= |
Synonymous |
22/42 |
- |
2 |
19-17056455-G-C |
c.2697C>G |
p.C899W |
Missense |
22/42 |
- |
1 |
19-17056469-C-T |
c.2683G>A |
p.D895N |
Missense |
22/42 |
- |
2 |
19-17056471-C-T |
c.2681G>A |
p.G894E |
Missense |
22/42 |
- |
4 |
19-17056472-C-G |
c.2680G>C |
p.G894R |
Missense |
22/42 |
- |
1 |
19-17056472-C-T |
c.2680G>A |
p.G894R |
Missense |
22/42 |
- |
5 |
19-17056473-G-A |
c.2679C>T |
p.Y893= |
Synonymous |
22/42 |
- |
3 |
19-17056482-G-A |
c.2670C>T |
p.A890= |
Synonymous |
22/42 |
- |
1 |
19-17056483-G-A |
c.2669C>T |
p.A890V |
Missense |
22/42 |
- |
4 |
19-17056484-C-T |
c.2668G>A |
p.A890T |
Missense |
22/42 |
- |
1 |
19-17056487-T-C |
c.2665A>G |
p.K889E |
Missense |
22/42 |
- |
1 |
19-17056676-T-A |
c.2663-187A>T |
- |
intron_variant |
- |
21/41 |
1 |
19-17056676-T-C |
c.2663-187A>G |
- |
intron_variant |
- |
21/41 |
1 |
19-17057498-G-A |
c.2662+386C>T |
- |
intron_variant |
- |
21/41 |
1 |
19-17057560-T-G |
c.2662+324A>C |
- |
intron_variant |
- |
21/41 |
1 |
19-17057594-C-A |
c.2662+290G>T |
- |
intron_variant |
- |
21/41 |
1 |
19-17057594-C-G |
c.2662+290G>C |
- |
intron_variant |
- |
21/41 |
1 |
19-17057594-C-T |
c.2662+290G>A |
- |
intron_variant |
- |
21/41 |
1 |
19-17057881-C-A |
c.2662+3G>T |
- |
IntronicSNV |
- |
21/41 |
1 |
19-17057884-C-T |
c.2662G>A |
p.A888T |
Missense |
21/42 |
- |
2 |
19-17057885-C-A |
c.2661G>T |
p.T887= |
Synonymous |
21/42 |
- |
1 |
19-17057885-C-G |
c.2661G>C |
p.T887= |
Synonymous |
21/42 |
- |
1 |
19-17057885-C-T |
c.2661G>A |
p.T887= |
Synonymous |
21/42 |
- |
1 |
19-17057890-T-A |
c.2656A>T |
p.I886F |
Missense |
21/42 |
- |
1 |
19-17057892-T-C |
c.2654A>G |
p.N885S |
Missense |
21/42 |
- |
2 |
19-17057902-C-T |
c.2644G>A |
p.G882R |
Missense |
21/42 |
- |
1 |
19-17057903-C-A |
c.2643G>T |
p.L881= |
Synonymous |
21/42 |
- |
1 |
19-17057903-C-G |
c.2643G>C |
p.L881= |
Synonymous |
21/42 |
- |
1 |
19-17057903-C-T |
c.2643G>A |
p.L881= |
Synonymous |
21/42 |
- |
1 |
19-17057905-G-A |
c.2641C>T |
p.L881= |
Synonymous |
21/42 |
- |
1 |
19-17057905-G-T |
c.2641C>A |
p.L881M |
Missense |
21/42 |
- |
1 |
19-17057908-C-T |
c.2638G>A |
p.D880N |
Missense |
21/42 |
- |
4 |
19-17057909-G-A |
c.2637C>T |
p.S879= |
Synonymous |
21/42 |
- |
2 |
19-17057910-C-A |
c.2636G>T |
p.S879I |
Missense |
21/42 |
- |
1 |
19-17057911-T-C |
c.2635A>G |
p.S879G |
Missense |
21/42 |
- |
1 |
19-17057916-G-A |
c.2630C>T |
p.S877F |
Missense |
21/42 |
- |
2 |
19-17057916-G-T |
c.2630C>A |
p.S877Y |
Missense |
21/42 |
- |
1 |
19-17057918-C-A |
c.2628G>T |
p.L876= |
Synonymous |
21/42 |
- |
1 |
19-17057919-A-G |
c.2627T>C |
p.L876P |
Missense |
21/42 |
- |
1 |
19-17057921-AA-CT |
c.2624_2625delinsAG |
p.V875E |
Missense |
21/42 |
- |
1 |
19-17057923-C-G |
c.2623G>C |
p.V875L |
Missense |
21/42 |
- |
1 |
19-17057923-C-T |
c.2623G>A |
p.V875I |
Missense |
21/42 |
- |
3 |
19-17057924-G-A |
c.2622C>T |
p.V874= |
Synonymous |
21/42 |
- |
2 |
19-17057928-C-A |
c.2618G>T |
p.W873L |
Missense |
21/42 |
- |
1 |
19-17057933-G-A |
c.2613C>T |
p.P871= |
Synonymous |
21/42 |
- |
2 |
19-17057934-G-A |
c.2612C>T |
p.P871L |
Missense |
21/42 |
- |
1 |
19-17057937-T-C |
c.2609A>G |
p.E870G |
Missense |
21/42 |
- |
2 |
19-17057938-C-G |
c.2608G>C |
p.E870Q |
Missense |
21/42 |
- |
1 |
19-17057942-C-T |
c.2604G>A |
p.E868= |
Synonymous |
21/42 |
- |
1 |
19-17057940-GCCT-G |
c.2603_2605del |
p.E868del |
InFrameDeletion |
21/42 |
- |
1 |
19-17057946-C-A |
c.2600G>T |
p.G867V |
Missense |
21/42 |
- |
1 |
19-17057946-C-T |
c.2600G>A |
p.G867E |
Missense |
21/42 |
- |
2 |
19-17057950-G-A |
c.2596C>T |
p.P866S |
Missense |
21/42 |
- |
2 |
19-17057952-G-A |
c.2594C>T |
p.A865V |
Missense |
21/42 |
- |
1 |
19-17057956-C-A |
c.2590G>T |
p.V864L |
Missense |
21/42 |
- |
5 |
19-17057956-C-G |
c.2590G>C |
p.V864L |
Missense |
21/42 |
- |
5 |
19-17057957-A-G |
c.2589T>C |
p.C863= |
Synonymous |
21/42 |
- |
1 |
19-17057960-C-G |
c.2586G>C |
p.M862I |
Missense |
21/42 |
- |
1 |
19-17057963-C-G |
c.2583G>C |
p.K861N |
Missense |
21/42 |
- |
1 |
19-17057972-CAC-GAT |
c.2572_2574delinsATC |
p.V858I |
Missense |
21/42 |
- |
1 |
19-17057974-C-A |
c.2572G>T |
p.V858L |
Missense |
21/42 |
- |
2 |
19-17057974-C-G |
c.2572G>C |
p.V858L |
Missense |
21/42 |
- |
2 |
19-17057979-C-G |
c.2567G>C |
p.R856P |
Missense |
21/42 |
- |
1 |
19-17057979-C-T |
c.2567G>A |
p.R856H |
Missense |
21/42 |
- |
3 |
19-17057980-G-A |
c.2566C>T |
p.R856C |
Missense |
21/42 |
- |
2 |
19-17057981-T-G |
c.2565A>C |
p.K855N |
Missense |
21/42 |
- |
1 |
19-17057985-C-T |
c.2561G>A |
p.G854D |
Missense |
21/42 |
- |
3 |
19-17057988-G-A |
c.2558C>T |
p.P853L |
Missense |
21/42 |
- |
4 |
19-17057989-G-A |
c.2557C>T |
p.P853S |
Missense |
21/42 |
- |
2 |
19-17057992-G-T |
c.2554C>A |
p.H852N |
Missense |
21/42 |
- |
1 |
19-17057994-C-T |
c.2552G>A |
p.G851E |
Missense |
21/42 |
- |
1 |
19-17057997-A-T |
c.2549T>A |
p.V850D |
Missense |
21/42 |
- |
7 |
19-17057998-C-G |
c.2548G>C |
p.V850L |
Missense |
21/42 |
- |
1 |
19-17057998-C-T |
c.2548G>A |
p.V850I |
Missense |
21/42 |
- |
1 |
19-17058003-T-C |
c.2543A>G |
p.Q848R |
Missense |
21/42 |
- |
2 |
19-17058009-C-A |
c.2537G>T |
p.G846V |
Missense |
21/42 |
- |
1 |
19-17058013-T-C |
c.2533A>G |
p.K845E |
Missense |
21/42 |
- |
1 |
19-17058016-G-A |
c.2530C>T |
p.P844S |
Missense |
21/42 |
- |
3 |
19-17058018-A-G |
c.2528T>C |
p.V843A |
Missense |
21/42 |
- |
2 |
19-17058019-C-A |
c.2527G>T |
p.V843F |
Missense |
21/42 |
- |
1 |
19-17058020-C-A |
c.2526G>T |
p.S842= |
Synonymous |
21/42 |
- |
1 |
19-17058020-C-G |
c.2526G>C |
p.S842= |
Synonymous |
21/42 |
- |
1 |
19-17058020-C-T |
c.2526G>A |
p.S842= |
Synonymous |
21/42 |
- |
2 |
19-17058021-G-A |
c.2525C>T |
p.S842L |
Missense |
21/42 |
- |
1 |
19-17058029-C-A |
c.2517G>T |
p.M839I |
Missense |
21/42 |
- |
1 |
19-17058029-C-G |
c.2517G>C |
p.M839I |
Missense |
21/42 |
- |
1 |
19-17058029-C-T |
c.2517G>A |
p.M839I |
Missense |
21/42 |
- |
6 |
19-17058030-A-C |
c.2516T>G |
p.M839R |
Missense |
21/42 |
- |
1 |
19-17058031-T-C |
c.2515A>G |
p.M839V |
Missense |
21/42 |
- |
2 |
19-17058032-G-A |
c.2514C>T |
p.Y838= |
Synonymous |
21/42 |
- |
1 |
19-17058034-A-G |
c.2512T>C |
p.Y838H |
Missense |
21/42 |
- |
1 |
19-17058037-C-T |
c.2509G>A |
p.V837M |
Missense |
21/42 |
- |
1 |
19-17059284-C-T |
c.2509-1247G>A |
- |
intron_variant |
- |
20/41 |
1 |
19-17062600-C-A |
c.2508+179G>T |
- |
IntronicSNV |
- |
20/41 |
1 |
19-17062644-T-C |
c.2508+135A>G |
- |
IntronicSNV |
- |
20/41 |
3 |
19-17062718-ACC-A |
c.2508+60_2508+61del |
- |
IntronicDeletion |
- |
20/41 |
1 |
19-17062784-C-T |
c.2503G>A |
p.A835T |
Missense |
20/42 |
- |
2 |
19-17062785-G-A |
c.2502C>T |
p.C834= |
Synonymous |
20/42 |
- |
1 |
19-17062788-G-A |
c.2499C>T |
p.T833= |
Synonymous |
20/42 |
- |
1 |
19-17062788-G-C |
c.2499C>G |
p.T833= |
Synonymous |
20/42 |
- |
1 |
19-17062788-G-T |
c.2499C>A |
p.T833= |
Synonymous |
20/42 |
- |
1 |
19-17062789-G-A |
c.2498C>T |
p.T833I |
Missense |
20/42 |
- |
1 |
19-17062789-G-T |
c.2498C>A |
p.T833N |
Missense |
20/42 |
- |
1 |
19-17062806-G-C |
c.2481C>G |
p.V827= |
Synonymous |
20/42 |
- |
1 |
19-17062814-G-A |
c.2473C>T |
p.L825F |
Missense |
20/42 |
- |
2 |
19-17062815-C-A |
c.2472G>T |
p.P824= |
Synonymous |
20/42 |
- |
1 |
19-17062816-G-A |
c.2471C>T |
p.P824L |
Missense |
20/42 |
- |
1 |
19-17062818-G-A |
c.2469C>T |
p.I823= |
Synonymous |
20/42 |
- |
3 |
19-17062818-G-T |
c.2469C>A |
p.I823= |
Synonymous |
20/42 |
- |
1 |
19-17062819-A-G |
c.2468T>C |
p.I823T |
Missense |
20/42 |
- |
1 |
19-17062820-T-C |
c.2467A>G |
p.I823V |
Missense |
20/42 |
- |
1 |
19-17062821-C-A |
c.2466G>T |
p.K822N |
Missense |
20/42 |
- |
2 |
19-17062821-C-G |
c.2466G>C |
p.K822N |
Missense |
20/42 |
- |
1 |
19-17062832-C-T |
c.2455G>A |
p.E819K |
Missense |
20/42 |
- |
2 |
19-17062835-C-T |
c.2452G>A |
p.G818R |
Missense |
20/42 |
- |
1 |
19-17062836-AC-TT |
c.2450_2451delinsAA |
p.R817Q |
Missense |
20/42 |
- |
1 |
19-17062838-G-A |
c.2449C>T |
p.R817C |
Missense |
20/42 |
- |
2 |
19-17062839-G-A |
c.2448C>T |
p.I816= |
Synonymous |
20/42 |
- |
3 |
19-17062839-G-T |
c.2448C>A |
p.I816= |
Synonymous |
20/42 |
- |
2 |
19-17062841-T-C |
c.2446A>G |
p.I816V |
Missense |
20/42 |
- |
1 |
19-17062847-G-A |
c.2440C>T |
p.L814F |
Missense |
20/42 |
- |
2 |
19-17062847-G-C |
c.2440C>G |
p.L814V |
Missense |
20/42 |
- |
1 |
19-17062849-G-A |
c.2438C>T |
p.A813V |
Missense |
20/42 |
- |
4 |
19-17062850-C-T |
c.2437G>A |
p.A813T |
Missense |
20/42 |
- |
3 |
19-17062854-G-A |
c.2433C>T |
p.L811= |
Synonymous |
20/42 |
- |
1 |
19-17062854-G-C |
c.2433C>G |
p.L811= |
Synonymous |
20/42 |
- |
1 |
19-17062854-G-T |
c.2433C>A |
p.L811= |
Synonymous |
20/42 |
- |
1 |
19-17062855-A-C |
c.2432T>G |
p.L811R |
Missense |
20/42 |
- |
1 |
19-17062856-G-C |
c.2431C>G |
p.L811V |
Missense |
20/42 |
- |
1 |
19-17062866-C-T |
c.2421G>A |
p.V807= |
Synonymous |
20/42 |
- |
1 |
19-17062868-C-T |
c.2419G>A |
p.V807M |
Missense |
20/42 |
- |
1 |
19-17062869-G-A |
c.2418C>T |
p.F806= |
Synonymous |
20/42 |
- |
4 |
19-17062872-G-A |
c.2415C>T |
p.F805= |
Synonymous |
20/42 |
- |
1 |
19-17062877-G-A |
c.2410C>T |
p.P804S |
Missense |
20/42 |
- |
2 |
19-17062881-GA-G |
c.2405del |
p.F802Sfs*38 |
Frameshift |
20/42 |
- |
1 |
19-17062885-G-T |
c.2402C>A |
p.T801N |
Missense |
20/42 |
- |
3 |
19-17062890-C-A |
c.2397G>T |
p.L799= |
Synonymous |
20/42 |
- |
1 |
19-17062890-C-G |
c.2397G>C |
p.L799= |
Synonymous |
20/42 |
- |
1 |
19-17062890-C-T |
c.2397G>A |
p.L799= |
Synonymous |
20/42 |
- |
1 |
19-17062892-G-A |
c.2395C>T |
p.L799= |
Synonymous |
20/42 |
- |
1 |
19-17062893-C-A |
c.2394G>T |
p.L798= |
Synonymous |
20/42 |
- |
1 |
19-17062893-C-G |
c.2394G>C |
p.L798= |
Synonymous |
20/42 |
- |
1 |
19-17062893-C-T |
c.2394G>A |
p.L798= |
Synonymous |
20/42 |
- |
1 |
19-17062895-G-A |
c.2392C>T |
p.L798= |
Synonymous |
20/42 |
- |
1 |
19-17062895-G-T |
c.2392C>A |
p.L798M |
Missense |
20/42 |
- |
2 |
19-17062896-G-C |
c.2391C>G |
p.S797= |
Synonymous |
20/42 |
- |
1 |
19-17062898-A-T |
c.2389T>A |
p.S797T |
Missense |
20/42 |
- |
1 |
19-17062899-G-T |
c.2388C>A |
p.P796= |
Synonymous |
20/42 |
- |
2 |
19-17062905-G-A |
c.2382C>T |
p.A794= |
Synonymous |
20/42 |
- |
2 |
19-17062905-G-C |
c.2382C>G |
p.A794= |
Synonymous |
20/42 |
- |
1 |
19-17062908-G-A |
c.2379C>T |
p.I793= |
Synonymous |
20/42 |
- |
2 |
19-17062917-GC-CT |
c.2369_2370delinsAG |
p.G790E |
Missense |
20/42 |
- |
1 |
19-17062922-G-A |
c.2365C>T |
p.Q789* |
Nonsense |
20/42 |
- |
3 |
19-17062923-A-G |
c.2364T>C |
p.S788= |
Synonymous |
20/42 |
- |
1 |
19-17062929-G-A |
c.2358C>T |
p.S786= |
Synonymous |
20/42 |
- |
2 |
19-17062929-G-C |
c.2358C>G |
p.S786= |
Synonymous |
20/42 |
- |
1 |
19-17062929-G-T |
c.2358C>A |
p.S786= |
Synonymous |
20/42 |
- |
1 |
19-17062936-G-T |
c.2351C>A |
p.A784D |
Missense |
20/42 |
- |
1 |
19-17062942-G-A |
c.2345C>T |
p.A782V |
Missense |
20/42 |
- |
1 |
19-17062950-C-T |
c.2337G>A |
p.V779= |
Synonymous |
20/42 |
- |
1 |
19-17062956-G-C |
c.2331C>G |
p.S777R |
Missense |
20/42 |
- |
1 |
19-17062956-G-T |
c.2331C>A |
p.S777R |
Missense |
20/42 |
- |
1 |
19-17062958-T-G |
c.2329A>C |
p.S777R |
Missense |
20/42 |
- |
1 |
19-17062959-G-A |
c.2328C>T |
p.T776= |
Synonymous |
20/42 |
- |
2 |
19-17062959-G-C |
c.2328C>G |
p.T776= |
Synonymous |
20/42 |
- |
1 |
19-17062959-G-T |
c.2328C>A |
p.T776= |
Synonymous |
20/42 |
- |
1 |
19-17062963-A-C |
c.2324T>G |
p.I775S |
Missense |
20/42 |
- |
2 |
19-17062966-G-A |
c.2321C>T |
p.S774F |
Missense |
20/42 |
- |
2 |
19-17062970-C-T |
c.2317G>A |
p.D773N |
Missense |
20/42 |
- |
1 |
19-17062971-C-G |
c.2316G>C |
p.P772= |
Synonymous |
20/42 |
- |
2 |
19-17062971-C-T |
c.2316G>A |
p.P772= |
Synonymous |
20/42 |
- |
1 |
19-17062973-G-A |
c.2314C>T |
p.P772S |
Missense |
20/42 |
- |
1 |
19-17062980-CAC-GAT |
c.2305_2307delinsATC |
p.V769I |
Missense |
20/42 |
- |
1 |
19-17062988-G-C |
c.2299C>G |
p.L767V |
Missense |
20/42 |
- |
1 |
19-17062992-C-T |
c.2295G>A |
p.G765= |
Synonymous |
20/42 |
- |
1 |
19-17062993-C-G |
c.2294G>C |
p.G765A |
Missense |
20/42 |
- |
1 |
19-17062993-C-T |
c.2294G>A |
p.G765E |
Missense |
20/42 |
- |
2 |
19-17062998-A-C |
c.2289T>G |
p.G763= |
Synonymous |
20/42 |
- |
1 |
19-17062998-A-G |
c.2289T>C |
p.G763= |
Synonymous |
20/42 |
- |
1 |
19-17062998-A-T |
c.2289T>A |
p.G763= |
Synonymous |
20/42 |
- |
1 |
19-17063003-A-C |
c.2284T>G |
p.S762A |
Missense |
20/42 |
- |
1 |
19-17063005-G-A |
c.2282C>T |
p.P761L |
Missense |
20/42 |
- |
3 |
19-17063009-C-T |
c.2419G>A |
p.V807M |
Missense |
20/42 |
- |
2 |
19-17068524-G-A |
c.2276+139C>T |
- |
intron_variant |
- |
19/41 |
1 |
19-17068581-T-C |
c.2276+82A>G |
- |
intron_variant |
- |
19/41 |
1 |
19-17068621-C-G |
c.2276+42G>C |
- |
intron_variant |
- |
19/41 |
4 |
19-17068675-C-T |
c.2264G>A |
p.C755Y |
Missense |
19/42 |
- |
1 |
19-17068679-G-A |
c.2260C>T |
p.H754Y |
Missense |
19/42 |
- |
2 |
19-17068686-C-T |
c.2253G>A |
p.W751* |
Nonsense |
19/42 |
- |
4 |
19-17068687-C-T |
c.2252G>A |
p.W751* |
Nonsense |
19/42 |
- |
2 |
19-17068694-C-A |
c.2245G>T |
p.E749* |
Nonsense |
19/42 |
- |
1 |
19-17068694-C-T |
c.2245G>A |
p.E749K |
Missense |
19/42 |
- |
8 |
19-17068695-G-A |
c.2244C>T |
p.P748= |
Synonymous |
19/42 |
- |
1 |
19-17068695-G-C |
c.2244C>G |
p.P748= |
Synonymous |
19/42 |
- |
1 |
19-17068695-G-T |
c.2244C>A |
p.P748= |
Synonymous |
19/42 |
- |
1 |
19-17068697-G-A |
c.2242C>T |
p.P748S |
Missense |
19/42 |
- |
2 |
19-17068694-CG-C |
c.2244del |
p.E749Kfs*21 |
Frameshift |
19/42 |
- |
1 |
19-17068703-A-G |
c.2236T>C |
p.F746L |
Missense |
19/42 |
- |
1 |
19-17068704-A-C |
c.2235T>G |
p.T745= |
Synonymous |
19/42 |
- |
1 |
19-17068704-A-G |
c.2235T>C |
p.T745= |
Synonymous |
19/42 |
- |
3 |
19-17068704-A-T |
c.2235T>A |
p.T745= |
Synonymous |
19/42 |
- |
1 |
19-17068705-G-A |
c.2234C>T |
p.T745I |
Missense |
19/42 |
- |
1 |
19-17068707-CCT-ATG |
c.2230_2232delinsCAT |
p.R744H |
Missense |
19/42 |
- |
1 |
19-17068707-C-T |
c.2232G>A |
p.R744= |
Synonymous |
19/42 |
- |
4 |
19-17068709-T-G |
c.2230A>C |
p.R744= |
Synonymous |
19/42 |
- |
1 |
19-17068708-C-T |
c.2231G>A |
p.R744K |
Missense |
19/42 |
- |
1 |
19-17068709-T-C |
c.2230A>G |
p.R744G |
Missense |
19/42 |
- |
2 |
19-17068714-C-T |
c.2225G>A |
p.R742K |
Missense |
19/42 |
- |
2 |
19-17068719-C-T |
c.2220G>A |
p.E740= |
Synonymous |
19/42 |
- |
1 |
19-17068721-C-T |
c.2218G>A |
p.E740K |
Missense |
19/42 |
- |
1 |
19-17068917-T-C |
c.2214-192A>G |
- |
intron_variant |
- |
18/41 |
2 |
19-17076069-CA-C |
c.2213+5631del |
- |
IntronicDeletion |
- |
18/41 |
1 |
19-17078388-T-A |
c.2213+3313A>T |
- |
intron_variant |
- |
18/41 |
1 |
19-17078388-T-G |
c.2213+3313A>C |
- |
intron_variant |
- |
18/41 |
1 |
19-17079101-C-A |
c.2213+2600G>T |
- |
IntronicSNV |
- |
18/41 |
1 |
19-17081547-T-A |
c.2213+154A>T |
- |
IntronicSNV |
- |
18/41 |
1 |
19-17081701-CT-TG |
c.2212_2213delinsCA |
p.R738Q |
Missense |
18/42 |
- |
1 |
19-17081701-C-CT |
c.2212dup |
p.R738Kfs*23 |
SpliceDonorInsertion |
18/42 |
- |
1 |
19-17081702-T-A |
c.2212A>T |
p.R738* |
Nonsense |
18/42 |
- |
1 |
19-17081704-G-A |
c.2210C>T |
p.P737L |
Missense |
18/42 |
- |
1 |
19-17081705-G-C |
c.2209C>G |
p.P737A |
Missense |
18/42 |
- |
1 |
19-17081707-G-A |
c.2207C>T |
p.P736L |
missense_variant |
18/42 |
- |
4 |
19-17081707-G-T |
c.2207C>A |
p.P736H |
Missense |
18/42 |
- |
12 |
19-17081702-TG-T |
c.2211del |
p.R738Efs*32 |
Frameshift |
18/42 |
- |
3 |
19-17081702-T-TG |
c.2211dup |
p.R738Qfs*23 |
SpliceDonorInsertion |
18/42 |
- |
2 |
19-17081713-C-T |
c.2201G>A |
p.R734K |
Missense |
18/42 |
- |
1 |
19-17081714-T-G |
c.2200A>C |
p.R734= |
Synonymous |
18/42 |
- |
1 |
19-17081720-G-A |
c.2194C>T |
p.P732S |
Missense |
18/42 |
- |
5 |
19-17081720-G-T |
c.2194C>A |
p.P732T |
Missense |
18/42 |
- |
1 |
19-17081722-G-A |
c.2192C>T |
p.A731V |
Missense |
18/42 |
- |
1 |
19-17081723-C-A |
c.2191G>T |
p.A731S |
Missense |
18/42 |
- |
1 |
19-17081723-C-G |
c.2191G>C |
p.A731P |
Missense |
18/42 |
- |
1 |
19-17081731-A-G |
c.2183T>C |
p.V728A |
Missense |
18/42 |
- |
1 |
19-17081736-G-T |
c.2178C>A |
p.S726R |
Missense |
18/42 |
- |
1 |
19-17081740-C-T |
c.2174G>A |
p.G725E |
Missense |
18/42 |
- |
3 |
19-17081745-G-A |
c.2169C>T |
p.H723= |
Synonymous |
18/42 |
- |
1 |
19-17081748-G-A |
c.2166C>T |
p.P722= |
Synonymous |
18/42 |
- |
1 |
19-17081748-G-C |
c.2166C>G |
p.P722= |
Synonymous |
18/42 |
- |
1 |
19-17081748-G-T |
c.2166C>A |
p.P722= |
Synonymous |
18/42 |
- |
1 |
19-17081750-G-A |
c.2164C>T |
p.P722S |
Missense |
18/42 |
- |
1 |
19-17081753-G-A |
c.2161C>T |
p.Q721* |
Nonsense |
18/42 |
- |
1 |
19-17081754-G-A |
c.2160C>T |
p.F720= |
Synonymous |
18/42 |
- |
4 |
19-17081758-G-T |
c.2156C>A |
p.A719D |
Missense |
18/42 |
- |
1 |
19-17081759-C-T |
c.2155G>A |
p.A719T |
Missense |
18/42 |
- |
3 |
19-17081761-G-T |
c.2153C>A |
p.P718H |
Missense |
18/42 |
- |
1 |
19-17081765-C-A |
c.2149G>T |
p.V717F |
Missense |
18/42 |
- |
1 |
19-17081774-C-T |
c.2140G>A |
p.D714N |
Missense |
18/42 |
- |
3 |
19-17081775-G-A |
c.2139C>T |
p.T713= |
Synonymous |
18/42 |
- |
1 |
19-17081775-G-C |
c.2139C>G |
p.T713= |
Synonymous |
18/42 |
- |
1 |
19-17081775-G-T |
c.2139C>A |
p.T713= |
Synonymous |
18/42 |
- |
1 |
19-17081776-G-C |
c.2138C>G |
p.T713S |
Missense |
18/42 |
- |
1 |
19-17081776-G-T |
c.2138C>A |
p.T713N |
Missense |
18/42 |
- |
3 |
19-17081777-T-A |
c.2137A>T |
p.T713S |
Missense |
18/42 |
- |
1 |
19-17081777-T-G |
c.2137A>C |
p.T713P |
Missense |
18/42 |
- |
2 |
19-17081784-G-A |
c.2130C>T |
p.G710= |
Synonymous |
18/42 |
- |
1 |
19-17081784-G-C |
c.2130C>G |
p.G710= |
Synonymous |
18/42 |
- |
1 |
19-17081784-GCC-CCA |
c.2128_2130delinsTGG |
p.G710W |
Missense |
18/42 |
- |
1 |
19-17081784-G-T |
c.2130C>A |
p.G710= |
Synonymous |
18/42 |
- |
1 |
19-17081788-C-T |
c.2126G>A |
p.G709D |
Missense |
18/42 |
- |
1 |
19-17081789-C-T |
c.2125G>A |
p.G709S |
Missense |
18/42 |
- |
3 |
19-17081790-G-A |
c.2124C>T |
p.D708= |
Synonymous |
18/42 |
- |
6 |
19-17081790-G-C |
c.2124C>G |
p.D708E |
missense_variant |
18/42 |
- |
2 |
19-17081794-T-C |
c.2120A>G |
p.Q707R |
Missense |
18/42 |
- |
1 |
19-17081795-G-A |
c.2119C>T |
p.Q707* |
Nonsense |
18/42 |
- |
1 |
19-17081796-C-T |
c.2118G>A |
p.R706= |
Synonymous |
18/42 |
- |
3 |
19-17081797-C-T |
c.2117G>A |
p.R706Q |
Missense |
18/42 |
- |
4 |
19-17081796-C-A |
c.2118G>T |
p.R706= |
Synonymous |
18/42 |
- |
2 |
19-17081796-C-G |
c.2118G>C |
p.R706= |
Synonymous |
18/42 |
- |
2 |
19-17081798-G-A |
c.2116C>T |
p.R706W |
Missense |
18/42 |
- |
3 |
19-17081798-G-T |
c.2116C>A |
p.R706= |
Synonymous |
18/42 |
- |
2 |
19-17081811-C-T |
c.2103G>A |
p.V701= |
Synonymous |
18/42 |
- |
2 |
19-17081813-C-A |
c.2101G>T |
p.V701L |
missense_variant |
18/42 |
- |
1 |
19-17081813-C-G |
c.2101G>C |
p.V701L |
missense_variant |
18/42 |
- |
1 |
19-17081814-TCG-ACA |
c.2098_2100delinsTGT |
p.R700C |
Missense |
18/42 |
- |
1 |
19-17081817-G-T |
c.2097C>A |
p.D699E |
Missense |
18/42 |
- |
2 |
19-17081821-G-A |
c.2093C>T |
p.T698I |
Missense |
18/42 |
- |
3 |
19-17081823-C-T |
c.2091G>A |
p.M697I |
missense_variant |
18/42 |
- |
1 |
19-17081827-A-G |
c.2087T>C |
p.V696A |
Missense |
18/42 |
- |
1 |
19-17081837-C-T |
c.2077G>A |
p.G693R |
Missense |
18/42 |
- |
1 |
19-17081839-G-A |
c.2075C>T |
p.T692M |
Missense |
18/42 |
- |
5 |
19-17081840-T-C |
c.2074A>G |
p.T692A |
Missense |
18/42 |
- |
1 |
19-17081843-C-A |
c.2071G>T |
p.E691* |
Nonsense |
18/42 |
- |
1 |
19-17085865-A-C |
c.2070+42T>G |
- |
intron_variant |
- |
17/41 |
2 |
19-17085865-A-T |
c.2070+42T>A |
- |
intron_variant |
- |
17/41 |
2 |
19-17085906-C-A |
c.2070+1G>T |
- |
splice_donor_variant |
- |
17/41 |
1 |
19-17085906-C-T |
c.2070+1G>A |
- |
splice_donor_variant |
- |
17/41 |
1 |
19-17085907-G-A |
c.2070C>T |
p.T690= |
Synonymous |
17/42 |
- |
1 |
19-17085914-G-A |
c.2063C>T |
p.A688V |
Missense |
17/42 |
- |
2 |
19-17085927-C-T |
c.2050G>A |
p.D684N |
Missense |
17/42 |
- |
4 |
19-17085934-G-A |
c.2043C>T |
p.I681= |
Synonymous |
17/42 |
- |
2 |
19-17085936-T-C |
c.2041A>G |
p.I681V |
Missense |
17/42 |
- |
1 |
19-17085944-G-A |
c.2033C>T |
p.P678L |
Missense |
17/42 |
- |
2 |
19-17085945-G-A |
c.2032C>T |
p.P678S |
Missense |
17/42 |
- |
1 |
19-17085950-G-A |
c.2027C>T |
p.P676L |
Missense |
17/42 |
- |
4 |
19-17085951-G-A |
c.2026C>T |
p.P676S |
Missense |
17/42 |
- |
3 |
19-17085952-G-A |
c.2025C>T |
p.F675= |
Synonymous |
17/42 |
- |
3 |
19-17085961-G-A |
c.2016C>T |
p.S672= |
Synonymous |
17/42 |
- |
6 |
19-17085961-G-C |
c.2016C>G |
p.S672= |
Synonymous |
17/42 |
- |
1 |
19-17085961-G-T |
c.2016C>A |
p.S672= |
Synonymous |
17/42 |
- |
1 |
19-17085964-GCG-CCA |
c.2011_2013delinsTGG |
p.R671W |
Missense |
17/42 |
- |
1 |
19-17085965-C-A |
c.2012G>T |
p.R671L |
Missense |
17/42 |
- |
4 |
19-17085965-C-T |
c.2012G>A |
p.R671H |
Missense |
17/42 |
- |
3 |
19-17085966-G-A |
c.2011C>T |
p.R671C |
Missense |
17/42 |
- |
4 |
19-17085968-C-T |
c.2009G>A |
p.R670Q |
Missense |
17/42 |
- |
1 |
19-17085969-G-A |
c.2008C>T |
p.R670W |
Missense |
17/42 |
- |
3 |
19-17085970-G-A |
c.2007C>T |
p.R669= |
Synonymous |
17/42 |
- |
1 |
19-17085970-G-C |
c.2007C>G |
p.R669= |
Synonymous |
17/42 |
- |
1 |
19-17085970-G-T |
c.2007C>A |
p.R669= |
Synonymous |
17/42 |
- |
1 |
19-17085971-C-T |
c.2006G>A |
p.R669H |
Missense |
17/42 |
- |
2 |
19-17085972-G-A |
c.2005C>T |
p.R669C |
Missense |
17/42 |
- |
1 |
19-17085974-C-T |
c.2003G>A |
p.R668Q |
Missense |
17/42 |
- |
7 |
19-17085975-G-A |
c.2002C>T |
p.R668* |
Nonsense |
17/42 |
- |
3 |
19-17085976-T-C |
c.2001A>G |
p.Q667= |
Synonymous |
17/42 |
- |
1 |
19-17085979-T-A |
c.1998A>T |
p.A666= |
Synonymous |
17/42 |
- |
1 |
19-17085979-T-C |
c.1998A>G |
p.A666= |
Synonymous |
17/42 |
- |
1 |
19-17085979-T-G |
c.1998A>C |
p.A666= |
Synonymous |
17/42 |
- |
1 |
19-17085981-C-A |
c.1996G>T |
p.A666S |
Missense |
17/42 |
- |
1 |
19-17085981-C-T |
c.1996G>A |
p.A666T |
Missense |
17/42 |
- |
1 |
19-17085982-C-A |
c.1995G>T |
p.T665= |
Synonymous |
17/42 |
- |
1 |
19-17085982-C-G |
c.1995G>C |
p.T665= |
Synonymous |
17/42 |
- |
1 |
19-17085982-C-T |
c.1995G>A |
p.T665= |
Synonymous |
17/42 |
- |
3 |
19-17085983-G-A |
c.1994C>T |
p.T665M |
Missense |
17/42 |
- |
1 |
19-17085992-G-A |
c.1985C>T |
p.A662V |
Missense |
17/42 |
- |
1 |
19-17085993-C-T |
c.1984G>A |
p.A662T |
Missense |
17/42 |
- |
1 |
19-17085994-C-T |
c.1983G>A |
p.W661* |
Nonsense |
17/42 |
- |
2 |
19-17085995-C-T |
c.1982G>A |
p.W661* |
Nonsense |
17/42 |
- |
3 |
19-17085998-CA-C |
c.1978del |
p.W660Gfs*5 |
Frameshift |
17/42 |
- |
1 |
19-17086004-G-A |
c.1973C>T |
p.P658L |
Missense |
17/42 |
- |
2 |
19-17086005-G-A |
c.1972C>T |
p.P658S |
Missense |
17/42 |
- |
3 |
19-17086007-C-G |
c.1970G>C |
p.G657A |
Missense |
17/42 |
- |
1 |
19-17086010-T-A |
c.1967A>T |
p.D656V |
Missense |
17/42 |
- |
1 |
19-17086014-C-T |
c.1963G>A |
p.E655K |
Missense |
17/42 |
- |
3 |
19-17086015-C-T |
c.1962G>A |
p.R654= |
Synonymous |
17/42 |
- |
1 |
19-17086017-T-G |
c.1960A>C |
p.R654= |
Synonymous |
17/42 |
- |
1 |
19-17086016-CT-TG |
c.1960_1961delinsCA |
p.R654Q |
Missense |
17/42 |
- |
1 |
19-17086017-T-A |
c.1960A>T |
p.R654W |
Missense |
17/42 |
- |
1 |
19-17086023-C-T |
c.1954G>A |
p.V652M |
Missense |
17/42 |
- |
4 |
19-17086031-G-A |
c.1946C>T |
p.S649F |
Missense |
17/42 |
- |
2 |
19-17086035-C-G |
c.1942G>C |
p.D648H |
Missense |
17/42 |
- |
2 |
19-17086047-A-C |
c.1930T>G |
p.Y644D |
Missense |
17/42 |
- |
1 |
19-17086050-C-A |
c.1927G>T |
p.D643Y |
Missense |
17/42 |
- |
2 |
19-17086050-C-T |
c.1927G>A |
p.D643N |
Missense |
17/42 |
- |
1 |
19-17086051-T-C |
c.1926A>G |
p.E642= |
Synonymous |
17/42 |
- |
1 |
19-17086053-C-T |
c.1924G>A |
p.E642K |
Missense |
17/42 |
- |
2 |
19-17086059-C-G |
c.1918G>C |
p.E640Q |
Missense |
17/42 |
- |
1 |
19-17086060-C-T |
c.1917G>A |
p.Q639= |
Synonymous |
17/42 |
- |
2 |
19-17086062-G-C |
c.1915C>G |
p.Q639E |
Missense |
17/42 |
- |
1 |
19-17086064-A-T |
c.1913T>A |
p.F638Y |
Missense |
17/42 |
- |
1 |
19-17086066-AAC-CAT |
c.1909_1911delinsATG |
p.V637M |
Missense |
17/42 |
- |
1 |
19-17086814-G-A |
c.1906C>T |
p.Q636* |
Nonsense |
16/42 |
- |
4 |
19-17086815-G-A |
c.1905C>T |
p.A635= |
Synonymous |
16/42 |
- |
1 |
19-17086817-C-A |
c.1903G>T |
p.A635S |
Missense |
16/42 |
- |
1 |
19-17086824-C-T |
c.1896G>A |
p.L632= |
Synonymous |
16/42 |
- |
1 |
19-17086828-C-A |
c.1892G>T |
p.R631L |
Missense |
16/42 |
- |
1 |
19-17086827-C-A |
c.1893G>T |
p.R631= |
Synonymous |
16/42 |
- |
1 |
19-17086827-C-G |
c.1893G>C |
p.R631= |
Synonymous |
16/42 |
- |
1 |
19-17086827-C-T |
c.1893G>A |
p.R631= |
Synonymous |
16/42 |
- |
1 |
19-17086829-G-A |
c.1891C>T |
p.R631W |
Missense |
16/42 |
- |
4 |
19-17086829-G-T |
c.1891C>A |
p.R631= |
Synonymous |
16/42 |
- |
1 |
19-17086834-C-A |
c.1886G>T |
p.G629V |
Missense |
16/42 |
- |
1 |
19-17086840-C-T |
c.1880G>A |
p.R627K |
Missense |
16/42 |
- |
2 |
19-17086841-T-A |
c.1879A>T |
p.R627W |
Missense |
16/42 |
- |
1 |
19-17086847-G-A |
c.1873C>T |
p.L625= |
Synonymous |
16/42 |
- |
1 |
19-17086848-G-A |
c.1872C>T |
p.Y624= |
Synonymous |
16/42 |
- |
1 |
19-17086850-A-G |
c.1870T>C |
p.Y624H |
Missense |
16/42 |
- |
1 |
19-17086855-C-T |
c.1865G>A |
p.S622N |
Missense |
16/42 |
- |
1 |
19-17086862-C-G |
c.1858G>C |
p.D620H |
Missense |
16/42 |
- |
2 |
19-17086868-C-A |
c.1852G>T |
p.A618S |
Missense |
16/42 |
- |
1 |
19-17086868-C-T |
c.1852G>A |
p.A618T |
Missense |
16/42 |
- |
3 |
19-17086869-G-A |
c.1851C>T |
p.A617= |
Synonymous |
16/42 |
- |
4 |
19-17086869-G-C |
c.1851C>G |
p.A617= |
Synonymous |
16/42 |
- |
2 |
19-17086869-G-T |
c.1851C>A |
p.A617= |
Synonymous |
16/42 |
- |
2 |
19-17086870-G-A |
c.1850C>T |
p.A617V |
Missense |
16/42 |
- |
1 |
19-17086871-C-G |
c.1849G>C |
p.A617P |
Missense |
16/42 |
- |
1 |
19-17086871-C-T |
c.1849G>A |
p.A617T |
Missense |
16/42 |
- |
3 |
19-17086872-G-A |
c.1848C>T |
p.V616= |
Synonymous |
16/42 |
- |
5 |
19-17086872-G-C |
c.1848C>G |
p.V616= |
Synonymous |
16/42 |
- |
4 |
19-17086872-G-T |
c.1848C>A |
p.V616= |
Synonymous |
16/42 |
- |
4 |
19-17086874-C-T |
c.1846G>A |
p.V616I |
Missense |
16/42 |
- |
2 |
19-17086881-A-G |
c.1839T>C |
p.C613= |
Synonymous |
16/42 |
- |
1 |
19-17086882-C-G |
c.1838G>C |
p.C613S |
Missense |
16/42 |
- |
1 |
19-17086883-A-T |
c.1837T>A |
p.C613S |
Missense |
16/42 |
- |
1 |
19-17086886-T-G |
c.1834A>C |
p.S612R |
Missense |
16/42 |
- |
4 |
19-17086887-G-A |
c.1833C>T |
p.G611= |
Synonymous |
16/42 |
- |
1 |
19-17086890-C-A |
c.1830G>T |
p.R610S |
Missense |
16/42 |
- |
1 |
19-17086890-C-G |
c.1830G>C |
p.R610S |
Missense |
16/42 |
- |
1 |
19-17086891-CT-GG |
c.1828_1829delinsCC |
p.R610P |
Missense |
16/42 |
- |
1 |
19-17086896-A-C |
c.1824T>G |
p.A608= |
Synonymous |
16/42 |
- |
1 |
19-17086896-A-G |
c.1824T>C |
p.A608= |
Synonymous |
16/42 |
- |
1 |
19-17086896-A-T |
c.1824T>A |
p.A608= |
Synonymous |
16/42 |
- |
1 |
19-17086897-G-A |
c.1823C>T |
p.A608V |
Missense |
16/42 |
- |
1 |
19-17086902-G-A |
c.1818C>T |
p.I606= |
Synonymous |
16/42 |
- |
1 |
19-17086906-C-T |
c.1814G>A |
p.R605Q |
Missense |
16/42 |
- |
1 |
19-17086907-G-A |
c.1813C>T |
p.R605W |
Missense |
16/42 |
- |
1 |
19-17086909-A-C |
c.1811T>G |
p.L604R |
Missense |
16/42 |
- |
1 |
19-17086913-C-T |
c.1807G>A |
p.D603N |
Missense |
16/42 |
- |
3 |
19-17086918-A-G |
c.1802T>C |
p.V601A |
Missense |
16/42 |
- |
1 |
19-17086920-C-A |
c.1800G>T |
p.E600D |
Missense |
16/42 |
- |
1 |
19-17086920-C-G |
c.1800G>C |
p.E600D |
Missense |
16/42 |
- |
2 |
19-17086925-C-A |
c.1795G>T |
p.G599W |
Missense |
16/42 |
- |
1 |
19-17086927-G-A |
c.1793C>T |
p.P598L |
Missense |
16/42 |
- |
2 |
19-17086927-GG-AA |
c.1792_1793delinsTT |
p.P598F |
Missense |
16/42 |
- |
1 |
19-17086928-G-A |
c.1792C>T |
p.P598S |
Missense |
16/42 |
- |
2 |
19-17086930-T-C |
c.1790A>G |
p.Q597R |
Missense |
16/42 |
- |
1 |
19-17086940-T-G |
c.1780A>C |
p.N594H |
Missense |
16/42 |
- |
2 |
19-17086944-T-A |
c.1776A>T |
p.S592= |
Synonymous |
16/42 |
- |
1 |
19-17086944-T-C |
c.1776A>G |
p.S592= |
Synonymous |
16/42 |
- |
1 |
19-17086944-T-G |
c.1776A>C |
p.S592= |
Synonymous |
16/42 |
- |
1 |
19-17086946-A-G |
c.1774T>C |
p.S592P |
Missense |
16/42 |
- |
1 |
19-17086951-G-A |
c.1769C>T |
p.T590M |
Missense |
16/42 |
- |
1 |
19-17086956-T-A |
c.1764A>T |
p.S588= |
Synonymous |
16/42 |
- |
2 |
19-17086956-T-C |
c.1764A>G |
p.S588= |
Synonymous |
16/42 |
- |
3 |
19-17086956-T-G |
c.1764A>C |
p.S588= |
Synonymous |
16/42 |
- |
2 |
19-17086957-G-A |
c.1763C>T |
p.S588L |
Missense |
16/42 |
- |
4 |
19-17086959-AAC-CAT |
c.1759_1761delinsATG |
p.V587M |
Missense |
16/42 |
- |
1 |
19-17087077-A-G |
c.1759-116T>C |
- |
intron_variant |
- |
15/41 |
1 |
19-17087954-G-C |
c.1758+224C>G |
- |
intron_variant |
- |
15/41 |
1 |
19-17087980-C-T |
c.1758+198G>A |
- |
IntronicSNV |
- |
15/41 |
1 |
19-17088121-T-C |
c.1758+57A>G |
- |
IntronicSNV |
- |
15/41 |
2 |
19-17088171-G-A |
c.1758+7C>T |
- |
IntronicSNV |
- |
15/41 |
1 |
19-17088178-C-T |
c.1758G>A |
p.Q586= |
Synonymous |
15/42 |
- |
1 |
19-17088181-G-A |
c.1755C>T |
p.N585= |
Synonymous |
15/42 |
- |
1 |
19-17088186-C-T |
c.1750G>A |
p.E584K |
Missense |
15/42 |
- |
5 |
19-17088187-G-A |
c.1749C>T |
p.F583= |
Synonymous |
15/42 |
- |
7 |
19-17088188-A-C |
c.1748T>G |
p.F583C |
Missense |
15/42 |
- |
1 |
19-17088189-A-T |
c.1747T>A |
p.F583I |
Missense |
15/42 |
- |
1 |
19-17088186-CGAA-C |
c.1747_1749del |
p.F583del |
InFrameDeletion |
15/42 |
- |
1 |
19-17088190-G-C |
c.1746C>G |
p.F582L |
Missense |
15/42 |
- |
1 |
19-17088190-G-T |
c.1746C>A |
p.F582L |
Missense |
15/42 |
- |
1 |
19-17088192-A-G |
c.1744T>C |
p.F582L |
Missense |
15/42 |
- |
1 |
19-17088194-G-A |
c.1742C>T |
p.T581I |
Missense |
15/42 |
- |
1 |
19-17088196-C-A |
c.1740G>T |
p.E580D |
Missense |
15/42 |
- |
1 |
19-17088196-C-G |
c.1740G>C |
p.E580D |
Missense |
15/42 |
- |
4 |
19-17088201-C-A |
c.1735G>T |
p.V579F |
Missense |
15/42 |
- |
1 |
19-17088208-C-A |
c.1728G>T |
p.Q576H |
Missense |
15/42 |
- |
1 |
19-17088208-C-G |
c.1728G>C |
p.Q576H |
Missense |
15/42 |
- |
1 |
19-17088210-G-A |
c.1726C>T |
p.Q576* |
Nonsense |
15/42 |
- |
2 |
19-17088213-G-C |
c.1723C>G |
p.L575V |
Missense |
15/42 |
- |
1 |
19-17088215-C-T |
c.1721G>A |
p.S574N |
Missense |
15/42 |
- |
2 |
19-17088218-T-A |
c.1718A>T |
p.D573V |
Missense |
15/42 |
- |
1 |
19-17088219-C-G |
c.1717G>C |
p.D573H |
Missense |
15/42 |
- |
1 |
19-17088219-C-T |
c.1717G>A |
p.D573N |
Missense |
15/42 |
- |
6 |
19-17088220-G-A |
c.1716C>T |
p.A572A |
synonymous_variant |
15/42 |
- |
2 |
19-17088220-G-C |
c.1716C>G |
p.A572= |
Synonymous |
15/42 |
- |
1 |
19-17088220-G-T |
c.1716C>A |
p.A572= |
Synonymous |
15/42 |
- |
1 |
19-17088221-G-A |
c.1715C>T |
p.A572V |
Missense |
15/42 |
- |
1 |
19-17088227-C-A |
c.1709G>T |
p.G570V |
Missense |
15/42 |
- |
2 |
19-17088233-C-G |
c.1703G>C |
p.G568A |
Missense |
15/42 |
- |
1 |
19-17088233-C-T |
c.1703G>A |
p.G568E |
Missense |
15/42 |
- |
4 |
19-17088234-C-G |
c.1702G>C |
p.G568R |
Missense |
15/42 |
- |
2 |
19-17088234-C-T |
c.1702G>A |
p.G568R |
Missense |
15/42 |
- |
1 |
19-17088237-T-C |
c.1699A>G |
p.N567D |
Missense |
15/42 |
- |
1 |
19-17088238-C-A |
c.1698G>T |
p.E566D |
Missense |
15/42 |
- |
1 |
19-17088240-C-T |
c.1696G>A |
p.E566K |
Missense |
15/42 |
- |
7 |
19-17088241-C-A |
c.1695G>T |
p.R565S |
Missense |
15/42 |
- |
1 |
19-17088241-C-G |
c.1695G>C |
p.R565S |
Missense |
15/42 |
- |
1 |
19-17088242-C-A |
c.1694G>T |
p.R565M |
Missense |
15/42 |
- |
1 |
19-17088243-T-C |
c.1693A>G |
p.R565G |
Missense |
15/42 |
- |
2 |
19-17088246-C-T |
c.1690G>A |
p.V564I |
Missense |
15/42 |
- |
5 |
19-17088253-G-C |
c.1683C>G |
p.V561= |
Synonymous |
15/42 |
- |
3 |
19-17088262-GCG-CCA |
c.1672_1674delinsTGG |
p.R558W |
Missense |
15/42 |
- |
1 |
19-17088263-C-A |
c.1673G>T |
p.R558L |
Missense |
15/42 |
- |
1 |
19-17088263-C-T |
c.1673G>A |
p.R558H |
Missense |
15/42 |
- |
4 |
19-17088266-C-G |
c.1670G>C |
p.G557A |
Missense |
15/42 |
- |
1 |
19-17088266-C-T |
c.1670G>A |
p.G557D |
Missense |
15/42 |
- |
1 |
19-17088268-A-C |
c.1668T>G |
p.L556= |
Synonymous |
15/42 |
- |
1 |
19-17088268-A-G |
c.1668T>C |
p.L556= |
Synonymous |
15/42 |
- |
1 |
19-17088268-A-T |
c.1668T>A |
p.L556= |
Synonymous |
15/42 |
- |
1 |
19-17088270-G-A |
c.1666C>T |
p.L556F |
Missense |
15/42 |
- |
2 |
19-17088271-G-A |
c.1665C>T |
p.P555= |
Synonymous |
15/42 |
- |
1 |
19-17088271-G-C |
c.1665C>G |
p.P555= |
Synonymous |
15/42 |
- |
1 |
19-17088271-G-T |
c.1665C>A |
p.P555= |
Synonymous |
15/42 |
- |
1 |
19-17088272-G-A |
c.1664C>T |
p.P555L |
Missense |
15/42 |
- |
4 |
19-17088273-G-T |
c.1663C>A |
p.P555T |
Missense |
15/42 |
- |
2 |
19-17088274-G-A |
c.1662C>T |
p.V554= |
Synonymous |
15/42 |
- |
2 |
19-17088276-C-G |
c.1660G>C |
p.V554L |
Missense |
15/42 |
- |
3 |
19-17088284-G-A |
c.1652C>T |
p.P551L |
Missense |
15/42 |
- |
2 |
19-17088284-G-T |
c.1652C>A |
p.P551H |
Missense |
15/42 |
- |
1 |
19-17088285-G-A |
c.1651C>T |
p.P551S |
Missense |
15/42 |
- |
2 |
19-17088289-CAC-GAT |
c.1645_1647delinsATC |
p.V549I |
Missense |
15/42 |
- |
1 |
19-17088291-C-T |
c.1645G>A |
p.V549M |
Missense |
15/42 |
- |
3 |
19-17088294-C-T |
c.1642G>A |
p.A548T |
Missense |
15/42 |
- |
6 |
19-17088297-G-A |
c.1639C>T |
p.L547= |
Synonymous |
15/42 |
- |
3 |
19-17088298-A-G |
c.1638T>C |
p.H546= |
Synonymous |
15/42 |
- |
1 |
19-17088299-T-C |
c.1637A>G |
p.H546R |
Missense |
15/42 |
- |
18 |
19-17088300-G-A |
c.1636C>T |
p.H546Y |
Missense |
15/42 |
- |
5 |
19-17088303-G-A |
c.1633C>T |
p.L545F |
Missense |
15/42 |
- |
4 |
19-17088306-A-C |
c.1630T>G |
p.S544A |
Missense |
15/42 |
- |
3 |
19-17088310-C-A |
c.1626G>T |
p.V542= |
Synonymous |
15/42 |
- |
2 |
19-17088310-C-G |
c.1626G>C |
p.V542= |
Synonymous |
15/42 |
- |
2 |
19-17088310-C-T |
c.1626G>A |
p.V542= |
Synonymous |
15/42 |
- |
2 |
19-17088311-A-C |
c.1625T>G |
p.V542G |
Missense |
15/42 |
- |
1 |
19-17088312-C-A |
c.1624G>T |
p.V542L |
Missense |
15/42 |
- |
2 |
19-17088312-C-G |
c.1624G>C |
p.V542L |
Missense |
15/42 |
- |
2 |
19-17088318-C-T |
c.1618G>A |
p.V540M |
Missense |
15/42 |
- |
5 |
19-17088319-G-A |
c.1617C>T |
p.D539= |
Synonymous |
15/42 |
- |
1 |
19-17088319-G-C |
c.1617C>G |
p.D539E |
Missense |
15/42 |
- |
11 |
19-17088319-G-T |
c.1617C>A |
p.D539E |
Missense |
15/42 |
- |
14 |
19-17088320-T-C |
c.1616A>G |
p.D539G |
Missense |
15/42 |
- |
1 |
19-17088322-G-A |
c.1614C>T |
p.V538= |
Synonymous |
15/42 |
- |
2 |
19-17088322-G-C |
c.1614C>G |
p.V538= |
Synonymous |
15/42 |
- |
2 |
19-17088322-G-T |
c.1614C>A |
p.V538= |
Synonymous |
15/42 |
- |
1 |
19-17088324-C-A |
c.1612G>T |
p.V538F |
Missense |
15/42 |
- |
1 |
19-17088324-C-G |
c.1612G>C |
p.V538L |
Missense |
15/42 |
- |
2 |
19-17088324-C-T |
c.1612G>A |
p.V538I |
Missense |
15/42 |
- |
1 |
19-17088325-C-T |
c.1611G>A |
p.E537= |
Synonymous |
15/42 |
- |
2 |
19-17088327-C-T |
c.1609G>A |
p.E537K |
Missense |
15/42 |
- |
3 |
19-17088335-G-T |
c.1601C>A |
p.P534Q |
Missense |
15/42 |
- |
1 |
19-17088337-G-A |
c.1599C>T |
p.A533= |
Synonymous |
15/42 |
- |
1 |
19-17088346-G-C |
c.1590C>G |
p.P530= |
Synonymous |
15/42 |
- |
1 |
19-17088348-GCT-G |
c.1586_1587del |
- |
SpliceAcceptorDeletion |
- |
14/41 |
1 |
19-17088458-G-A |
c.1586-108C>T |
- |
intron_variant |
- |
14/41 |
3 |
19-17088458-G-C |
c.1586-108C>G |
- |
intron_variant |
- |
14/41 |
3 |
19-17088458-G-T |
c.1586-108C>A |
- |
intron_variant |
- |
14/41 |
3 |
19-17090106-C-A |
c.1585+1201G>T |
- |
intron_variant |
- |
14/41 |
1 |
19-17090180-C-G |
c.1585+1127G>C |
- |
intron_variant |
- |
14/41 |
1 |
19-17090180-C-T |
c.1585+1127G>A |
- |
intron_variant |
- |
14/41 |
1 |
19-17091141-G-T |
c.1585+166C>A |
- |
IntronicSNV |
- |
14/41 |
2 |
19-17091307-C-A |
c.1585G>T |
p.E529* |
Nonsense |
14/42 |
- |
1 |
19-17091315-GA-AG |
c.1576_1577delinsCT |
p.S526L |
Missense |
14/42 |
- |
1 |
19-17091315-G-T |
c.1577C>A |
p.S526Y |
Missense |
14/42 |
- |
1 |
19-17091318-A-G |
c.1574T>C |
p.L525P |
Missense |
14/42 |
- |
1 |
19-17091323-T-A |
c.1569A>T |
p.T523= |
Synonymous |
14/42 |
- |
1 |
19-17091325-T-A |
c.1567A>T |
p.T523S |
Missense |
14/42 |
- |
2 |
19-17091329-ACG-TCA |
c.1561_1563delinsTGA |
p.R521* |
Nonsense |
14/42 |
- |
1 |
19-17091330-C-T |
c.1562G>A |
p.R521H |
Missense |
14/42 |
- |
2 |
19-17091331-G-A |
c.1561C>T |
p.R521C |
Missense |
14/42 |
- |
16 |
19-17091334-T-C |
c.1558A>G |
p.I520V |
Missense |
14/42 |
- |
1 |
19-17091335-C-A |
c.1557G>T |
p.P519= |
Synonymous |
14/42 |
- |
4 |
19-17091335-C-G |
c.1557G>C |
p.P519= |
Synonymous |
14/42 |
- |
2 |
19-17091335-C-T |
c.1557G>A |
p.P519= |
Synonymous |
14/42 |
- |
5 |
19-17091336-G-A |
c.1556C>T |
p.P519L |
Missense |
14/42 |
- |
1 |
19-17091341-C-A |
c.1551G>T |
p.E517D |
Missense |
14/42 |
- |
3 |
19-17091341-C-G |
c.1551G>C |
p.E517D |
Missense |
14/42 |
- |
2 |
19-17091347-G-A |
c.1545C>T |
p.A515= |
Synonymous |
14/42 |
- |
1 |
19-17091347-G-T |
c.1545C>A |
p.A515= |
Synonymous |
14/42 |
- |
1 |
19-17091348-G-C |
c.1544C>G |
p.A515G |
Missense |
14/42 |
- |
1 |
19-17091352-G-A |
c.1540C>T |
p.P514S |
Missense |
14/42 |
- |
1 |
19-17091354-G-A |
c.1538C>T |
p.A513V |
Missense |
14/42 |
- |
1 |
19-17091354-G-T |
c.1538C>A |
p.A513D |
Missense |
14/42 |
- |
1 |
19-17091356-C-A |
c.1536G>T |
p.A512= |
Synonymous |
14/42 |
- |
1 |
19-17091356-C-G |
c.1536G>C |
p.A512= |
Synonymous |
14/42 |
- |
1 |
19-17091356-C-T |
c.1536G>A |
p.A512= |
Synonymous |
14/42 |
- |
1 |
19-17091357-G-A |
c.1535C>T |
p.A512V |
Missense |
14/42 |
- |
2 |
19-17091361-G-A |
c.1531C>T |
p.R511W |
Missense |
14/42 |
- |
1 |
19-17091368-TC-AT |
c.1523_1524delinsAT |
p.R508H |
Missense |
14/42 |
- |
1 |
19-17091368-T-G |
c.1524A>C |
p.R508= |
Synonymous |
14/42 |
- |
15 |
19-17091369-C-T |
c.1523G>A |
p.R508Q |
Missense |
14/42 |
- |
3 |
19-17091368-T-A |
c.1524A>T |
p.R508= |
Synonymous |
14/42 |
- |
8 |
19-17091368-T-C |
c.1524A>G |
p.R508= |
Synonymous |
14/42 |
- |
8 |
19-17091370-G-A |
c.1522C>T |
p.R508* |
Nonsense |
14/42 |
- |
1 |
19-17091373-G-A |
c.1519C>T |
p.Q507* |
Nonsense |
14/42 |
- |
1 |
19-17091374-C-G |
c.1518G>C |
p.Q506H |
missense_variant |
14/42 |
- |
1 |
19-17091374-C-T |
c.1518G>A |
p.Q506= |
Synonymous |
14/42 |
- |
1 |
19-17091378-G-C |
c.1514C>G |
p.T505S |
Missense |
14/42 |
- |
1 |
19-17091379-T-A |
c.1513A>T |
p.T505S |
Missense |
14/42 |
- |
1 |
19-17091381-G-A |
c.1511C>T |
p.T504I |
Missense |
14/42 |
- |
5 |
19-17091381-G-C |
c.1511C>G |
p.T504S |
missense_variant |
14/42 |
- |
1 |
19-17091381-G-T |
c.1511C>A |
p.T504N |
missense_variant |
14/42 |
- |
1 |
19-17091386-G-A |
c.1506C>T |
p.A502= |
Synonymous |
14/42 |
- |
1 |
19-17091386-G-C |
c.1506C>G |
p.A502= |
Synonymous |
14/42 |
- |
1 |
19-17091386-G-T |
c.1506C>A |
p.A502= |
Synonymous |
14/42 |
- |
2 |
19-17091389-A-G |
c.1503T>C |
p.P501= |
Synonymous |
14/42 |
- |
1 |
19-17091392-C-T |
c.1500G>A |
p.Q500= |
Synonymous |
14/42 |
- |
2 |
19-17091396-T-C |
c.1637A>G |
p.H546R |
Missense |
15/42 |
- |
6 |
19-17091396-T-G |
c.1637A>C |
p.H546P |
Missense |
15/42 |
- |
6 |
19-17091397-G-A |
c.1495C>T |
p.Q499* |
Nonsense |
14/42 |
- |
2 |
19-17091399-C-G |
c.1493G>C |
p.G498A |
Missense |
14/42 |
- |
1 |
19-17091401-C-T |
c.1491G>A |
p.S497= |
Synonymous |
14/42 |
- |
1 |
19-17091404-T-C |
c.1488A>G |
p.L496= |
Synonymous |
14/42 |
- |
1 |
19-17091406-G-A |
c.1486C>T |
p.L496= |
Synonymous |
14/42 |
- |
1 |
19-17091407-C-A |
c.1485G>T |
p.V495= |
Synonymous |
14/42 |
- |
1 |
19-17091409-C-A |
c.1483G>T |
p.V495L |
Missense |
14/42 |
- |
1 |
19-17091409-C-G |
c.1483G>C |
p.V495L |
Missense |
14/42 |
- |
1 |
19-17091409-C-T |
c.1483G>A |
p.V495M |
Missense |
14/42 |
- |
1 |
19-17091416-G-A |
c.1476C>T |
p.G492= |
Synonymous |
14/42 |
- |
7 |
19-17091416-G-T |
c.1476C>A |
p.G492= |
Synonymous |
14/42 |
- |
10 |
19-17091417-C-T |
c.1475G>A |
p.G492D |
Missense |
14/42 |
- |
2 |
19-17091418-C-T |
c.1474G>A |
p.G492S |
Missense |
14/42 |
- |
1 |
19-17091419-C-G |
c.1473G>C |
p.R491= |
Synonymous |
14/42 |
- |
1 |
19-17091429-A-C |
c.1463T>G |
p.V488G |
Missense |
14/42 |
- |
1 |
19-17091434-G-A |
c.1458C>T |
p.Y486= |
Synonymous |
14/42 |
- |
2 |
19-17091436-A-C |
c.1456T>G |
p.Y486D |
Missense |
14/42 |
- |
1 |
19-17091440-C-A |
c.1452G>T |
p.L484= |
Synonymous |
14/42 |
- |
1 |
19-17091440-C-G |
c.1452G>C |
p.L484= |
Synonymous |
14/42 |
- |
1 |
19-17091440-C-T |
c.1452G>A |
p.L484= |
Synonymous |
14/42 |
- |
1 |
19-17091442-G-A |
c.1450C>T |
p.L484= |
Synonymous |
14/42 |
- |
4 |
19-17091445-T-C |
c.1447A>G |
p.T483A |
Missense |
14/42 |
- |
1 |
19-17091446-A-G |
c.1446T>C |
p.F482= |
Synonymous |
14/42 |
- |
1 |
19-17091450-T-A |
c.1442A>T |
p.N481I |
Missense |
14/42 |
- |
2 |
19-17091453-C-T |
c.1439G>A |
p.C480Y |
Missense |
14/42 |
- |
2 |
19-17091456-G-A |
c.1436C>T |
p.P479L |
Missense |
14/42 |
- |
5 |
19-17091457-G-C |
c.1435C>G |
p.P479A |
Missense |
14/42 |
- |
1 |
19-17091459-C-T |
c.1433G>A |
p.C478Y |
Missense |
14/42 |
- |
1 |
19-17091463-T-C |
c.1429A>G |
p.T477A |
Missense |
14/42 |
- |
2 |
19-17091465-G-T |
c.1427C>A |
p.S476Y |
Missense |
14/42 |
- |
6 |
19-17091466-A-G |
c.1426T>C |
p.S476P |
Missense |
14/42 |
- |
1 |
19-17091472-C-A |
c.1420G>T |
p.V474L |
Missense |
14/42 |
- |
1 |
19-17091472-C-T |
c.1420G>A |
p.V474M |
Missense |
14/42 |
- |
2 |
19-17091474-G-A |
c.1418C>T |
p.S473F |
Missense |
14/42 |
- |
2 |
19-17091474-G-T |
c.1418C>A |
p.S473Y |
Missense |
14/42 |
- |
3 |
19-17091475-A-G |
c.1417T>C |
p.S473P |
Missense |
14/42 |
- |
2 |
19-17091480-T-A |
c.1412A>T |
p.Y471F |
Missense |
14/42 |
- |
1 |
19-17091480-T-C |
c.1412A>G |
p.Y471C |
Missense |
14/42 |
- |
1 |
19-17091483-G-A |
c.1409C>T |
p.A470V |
Missense |
14/42 |
- |
2 |
19-17091485-T-A |
c.1407A>T |
p.E469D |
Missense |
14/42 |
- |
1 |
19-17091485-T-C |
c.1407A>G |
p.E469= |
Synonymous |
14/42 |
- |
1 |
19-17091485-T-G |
c.1407A>C |
p.E469D |
Missense |
14/42 |
- |
4 |
19-17091487-C-T |
c.1405G>A |
p.E469K |
Missense |
14/42 |
- |
1 |
19-17091488-T-C |
c.1404A>G |
p.E468= |
Synonymous |
14/42 |
- |
1 |
19-17091490-C-T |
c.1402G>A |
p.E468K |
Missense |
14/42 |
- |
5 |
19-17091491-CC-GT |
c.1400_1401delinsAC |
p.G467D |
Missense |
14/42 |
- |
1 |
19-17091492-C-T |
c.1400G>A |
p.G467E |
Missense |
14/42 |
- |
1 |
19-17091493-C-A |
c.1399G>T |
p.G467W |
Missense |
14/42 |
- |
1 |
19-17091495-A-C |
c.1397T>G |
p.V466G |
Missense |
14/42 |
- |
1 |
19-17091496-C-A |
c.1396G>T |
p.V466F |
Missense |
14/42 |
- |
4 |
19-17091496-C-G |
c.1396G>C |
p.V466L |
Missense |
14/42 |
- |
1 |
19-17091509-C-T |
c.1396-13G>A |
- |
splice_polypyrimidine_tract_variant,intron_variant |
- |
13/41 |
1 |
19-17091533-C-T |
c.1396-37G>A |
- |
intron_variant |
- |
13/41 |
8 |
19-17091666-A-G |
c.1396-170T>C |
- |
intron_variant |
- |
13/41 |
1 |
19-17099638-T-C |
c.1395+815A>G |
- |
intron_variant |
- |
13/41 |
1 |
19-17099980-G-A |
c.1395+473C>T |
- |
intron_variant |
- |
13/41 |
1 |
19-17100438-T-A |
c.1395+15A>T |
- |
IntronicSNV |
- |
13/41 |
7 |
19-17100438-T-C |
c.1395+15A>G |
- |
intron_variant |
- |
13/41 |
5 |
19-17100452-C-T |
c.1395+1G>A |
- |
IntronicSNV |
- |
13/41 |
1 |
19-17100458-G-GT |
c.1389dup |
p.L464Tfs*64 |
Frameshift |
13/42 |
- |
1 |
19-17100460-G-A |
c.1388C>T |
p.P463L |
Missense |
13/42 |
- |
1 |
19-17100465-G-A |
c.1383C>T |
p.S461= |
Synonymous |
13/42 |
- |
3 |
19-17100466-G-A |
c.1382C>T |
p.S461F |
Missense |
13/42 |
- |
1 |
19-17100473-G-A |
c.1375C>T |
p.P459S |
Missense |
13/42 |
- |
1 |
19-17100474-C-A |
c.1374G>T |
p.Q458H |
Missense |
13/42 |
- |
1 |
19-17100474-C-T |
c.1374G>A |
p.Q458= |
Synonymous |
13/42 |
- |
1 |
19-17100480-C-T |
c.1368G>A |
p.Q456= |
Synonymous |
13/42 |
- |
1 |
19-17100494-G-A |
c.1354C>T |
p.Q452* |
Nonsense |
13/42 |
- |
1 |
19-17100498-G-A |
c.1350C>T |
p.P450= |
Synonymous |
13/42 |
- |
1 |
19-17100501-G-A |
c.1347C>T |
p.S449= |
Synonymous |
13/42 |
- |
1 |
19-17100501-G-C |
c.1347C>G |
p.S449= |
Synonymous |
13/42 |
- |
1 |
19-17100501-G-T |
c.1347C>A |
p.S449= |
Synonymous |
13/42 |
- |
1 |
19-17100497-TG-T |
c.1350del |
p.S451Afs*24 |
Frameshift |
13/42 |
- |
1 |
19-17100502-G-A |
c.1346C>T |
p.S449F |
Missense |
13/42 |
- |
1 |
19-17100503-A-G |
c.1345T>C |
p.S449P |
Missense |
13/42 |
- |
2 |
19-17100511-CT-AA |
c.1336_1337delinsTT |
p.S446F |
Missense |
13/42 |
- |
1 |
19-17100514-C-T |
c.1475G>A |
p.G492D |
Missense |
14/42 |
- |
1 |
19-17100518-G-A |
c.1330C>T |
p.L444F |
Missense |
13/42 |
- |
6 |
19-17100519-G-A |
c.1329C>T |
p.S443= |
Synonymous |
13/42 |
- |
3 |
19-17100520-G-A |
c.1328C>T |
p.S443F |
Missense |
13/42 |
- |
3 |
19-17100520-GA-AT |
c.1327_1328delinsAT |
p.S443I |
Missense |
13/42 |
- |
1 |
19-17100520-G-C |
c.1328C>G |
p.S443C |
Missense |
13/42 |
- |
1 |
19-17100522-G-A |
c.1326C>T |
p.L442= |
Synonymous |
13/42 |
- |
1 |
19-17100522-G-C |
c.1326C>G |
p.L442= |
Synonymous |
13/42 |
- |
1 |
19-17100522-G-T |
c.1326C>A |
p.L442= |
Synonymous |
13/42 |
- |
1 |
19-17100527-A-G |
c.1321T>C |
p.Y441H |
Missense |
13/42 |
- |
3 |
19-17100532-G-A |
c.1316C>T |
p.P439L |
Missense |
13/42 |
- |
3 |
19-17100533-G-A |
c.1315C>T |
p.P439S |
Missense |
13/42 |
- |
1 |
19-17100533-G-C |
c.1315C>G |
p.P439A |
Missense |
13/42 |
- |
1 |
19-17100537-G-C |
c.1311C>G |
p.Y437* |
Nonsense |
13/42 |
- |
1 |
19-17100537-G-T |
c.1311C>A |
p.Y437* |
Nonsense |
13/42 |
- |
1 |
19-17100542-G-C |
c.1306C>G |
p.Q436E |
Missense |
13/42 |
- |
1 |
19-17100545-C-T |
c.1303G>A |
p.A435T |
Missense |
13/42 |
- |
1 |
19-17100546-C-G |
c.1302G>C |
p.G434= |
Synonymous |
13/42 |
- |
1 |
19-17100547-C-T |
c.1301G>A |
p.G434E |
Missense |
13/42 |
- |
4 |
19-17100548-C-G |
c.1300G>C |
p.G434R |
Missense |
13/42 |
- |
1 |
19-17100548-C-T |
c.1300G>A |
p.G434R |
Missense |
13/42 |
- |
1 |
19-17100550-A-T |
c.1298T>A |
p.V433E |
Missense |
13/42 |
- |
7 |
19-17100551-C-T |
c.1297G>A |
p.V433M |
Missense |
13/42 |
- |
1 |
19-17100552-A-C |
c.1296T>G |
p.P432= |
Synonymous |
13/42 |
- |
1 |
19-17100552-A-G |
c.1296T>C |
p.P432= |
Synonymous |
13/42 |
- |
16 |
19-17100552-A-T |
c.1296T>A |
p.P432= |
Synonymous |
13/42 |
- |
1 |
19-17100553-G-A |
c.1295C>T |
p.P432L |
Missense |
13/42 |
- |
1 |
19-17100558-C-T |
c.1290G>A |
p.G430= |
Synonymous |
13/42 |
- |
1 |
19-17100559-C-T |
c.1289G>A |
p.G430E |
Missense |
13/42 |
- |
2 |
19-17100564-C-T |
c.1284G>A |
p.L428= |
Synonymous |
13/42 |
- |
3 |
19-17100567-T-A |
c.1281A>T |
p.A427= |
Synonymous |
13/42 |
- |
1 |
19-17100567-T-C |
c.1281A>G |
p.A427= |
Synonymous |
13/42 |
- |
2 |
19-17100567-T-G |
c.1281A>C |
p.A427= |
Synonymous |
13/42 |
- |
1 |
19-17100576-CCTT-C |
c.1270_1272del |
p.K424del |
InFrameDeletion |
13/42 |
- |
1 |
19-17100576-C-T |
c.1272G>A |
p.K424= |
Synonymous |
13/42 |
- |
3 |
19-17100579-G-T |
c.1269C>A |
p.T423= |
Synonymous |
13/42 |
- |
2 |
19-17100666-17100667---A |
c.1267-86dup |
- |
intron_variant |
- |
12/41 |
1 |
19-17100731-A-G |
c.1267-150T>C |
- |
intron_variant |
- |
12/41 |
2 |
19-17102491-C-A |
c.1266+1735G>T |
- |
intron_variant |
- |
12/41 |
1 |
19-17102530-TG-T |
c.1266+1695del |
- |
IntronicDeletion |
- |
12/41 |
1 |
19-17104162-C-T |
c.1266+64G>A |
- |
IntronicSNV |
- |
12/41 |
2 |
19-17104231-G-T |
c.1261C>A |
p.L421M |
Missense |
12/42 |
- |
5 |
19-17104237-C-G |
c.1255G>C |
p.V419L |
Missense |
12/42 |
- |
1 |
19-17104237-C-T |
c.1255G>A |
p.V419M |
Missense |
12/42 |
- |
3 |
19-17104238-G-A |
c.1254C>T |
p.H418= |
Synonymous |
12/42 |
- |
1 |
19-17104239-T-C |
c.1253A>G |
p.H418R |
Missense |
12/42 |
- |
6 |
19-17104242-TG-T |
c.1249del |
p.Q417Sfs*9 |
Frameshift |
12/42 |
- |
1 |
19-17104246-C-A |
c.1246G>T |
p.A416S |
Missense |
12/42 |
- |
1 |
19-17104250-C-A |
c.1242G>T |
p.T414= |
Synonymous |
12/42 |
- |
1 |
19-17104250-C-G |
c.1242G>C |
p.T414= |
Synonymous |
12/42 |
- |
1 |
19-17104250-C-T |
c.1242G>A |
p.T414= |
Synonymous |
12/42 |
- |
1 |
19-17104251-G-A |
c.1241C>T |
p.T414M |
Missense |
12/42 |
- |
3 |
19-17104251-G-C |
c.1241C>G |
p.T414R |
Missense |
12/42 |
- |
1 |
19-17104254-G-A |
c.1238C>T |
p.P413L |
Missense |
12/42 |
- |
2 |
19-17104255-G-A |
c.1237C>T |
p.P413S |
Missense |
12/42 |
- |
2 |
19-17104256-G-A |
c.1236C>T |
p.I412= |
Synonymous |
12/42 |
- |
1 |
19-17104256-G-T |
c.1236C>A |
p.I412= |
Synonymous |
12/42 |
- |
2 |
19-17104260-G-A |
c.1232C>T |
p.S411F |
Missense |
12/42 |
- |
1 |
19-17104260-GA-TT |
c.1231_1232delinsAA |
p.S411N |
Missense |
12/42 |
- |
1 |
19-17104264-G-A |
c.1228C>T |
p.P410S |
Missense |
12/42 |
- |
4 |
19-17104266-A-G |
c.1226T>C |
p.I409T |
Missense |
12/42 |
- |
1 |
19-17104274-C-A |
c.1218G>T |
p.G406= |
Synonymous |
12/42 |
- |
3 |
19-17104274-C-G |
c.1218G>C |
p.G406= |
Synonymous |
12/42 |
- |
2 |
19-17104274-C-T |
c.1218G>A |
p.G406= |
Synonymous |
12/42 |
- |
4 |
19-17104275-C-A |
c.1217G>T |
p.G406V |
Missense |
12/42 |
- |
1 |
19-17104281-A-C |
c.1211T>G |
p.L404R |
Missense |
12/42 |
- |
1 |
19-17104284-C-A |
c.1208G>T |
p.G403V |
Missense |
12/42 |
- |
1 |
19-17104284-C-T |
c.1208G>A |
p.G403E |
Missense |
12/42 |
- |
2 |
19-17104287-C-A |
c.1205G>T |
p.R402L |
Missense |
12/42 |
- |
1 |
19-17104287-C-T |
c.1205G>A |
p.R402H |
Missense |
12/42 |
- |
1 |
19-17104288-G-C |
c.1204C>G |
p.R402G |
Missense |
12/42 |
- |
6 |
19-17104294-A-G |
c.1198T>C |
p.S400P |
Missense |
12/42 |
- |
2 |
19-17104295-CAC-GAT |
c.1195_1197delinsATC |
p.V399I |
Missense |
12/42 |
- |
1 |
19-17104295-C-T |
c.1197G>A |
p.V399= |
Synonymous |
12/42 |
- |
1 |
19-17104297-C-T |
c.1195G>A |
p.V399M |
Missense |
12/42 |
- |
1 |
19-17104298-AAC-CAT |
c.1192_1194delinsATG |
p.V398M |
Missense |
12/42 |
- |
1 |
19-17104299-A-C |
c.1193T>G |
p.V398G |
Missense |
12/42 |
- |
1 |
19-17104300-C-A |
c.1192G>T |
p.V398F |
Missense |
12/42 |
- |
1 |
19-17104306-T-C |
c.1186A>G |
p.S396G |
Missense |
12/42 |
- |
1 |
19-17104307-G-A |
c.1185C>T |
p.T395= |
Synonymous |
12/42 |
- |
2 |
19-17104314-A-C |
c.1178T>G |
p.I393S |
Missense |
12/42 |
- |
1 |
19-17104317-T-C |
c.1175A>G |
p.N392S |
Missense |
12/42 |
- |
2 |
19-17104319-A-C |
c.1173T>G |
p.D391E |
Missense |
12/42 |
- |
1 |
19-17104319-A-T |
c.1173T>A |
p.D391E |
Missense |
12/42 |
- |
1 |
19-17104321-C-T |
c.1171G>A |
p.D391N |
Missense |
12/42 |
- |
1 |
19-17104322-C-A |
c.1170G>T |
p.K390N |
Missense |
12/42 |
- |
1 |
19-17104322-C-G |
c.1170G>C |
p.K390N |
Missense |
12/42 |
- |
1 |
19-17104322-C-T |
c.1170G>A |
p.K390= |
Synonymous |
12/42 |
- |
1 |
19-17104327-G-A |
c.1165C>T |
p.P389S |
Missense |
12/42 |
- |
1 |
19-17104329-G-A |
c.1163C>T |
p.T388I |
Missense |
12/42 |
- |
1 |
19-17104340-C-A |
c.1152G>T |
p.K384N |
Missense |
12/42 |
- |
1 |
19-17104340-C-T |
c.1152G>A |
p.K384= |
Synonymous |
12/42 |
- |
1 |
19-17104352-C-A |
c.1140G>T |
p.T380= |
Synonymous |
12/42 |
- |
1 |
19-17104352-C-G |
c.1140G>C |
p.T380= |
Synonymous |
12/42 |
- |
1 |
19-17104352-C-T |
c.1140G>A |
p.T380= |
Synonymous |
12/42 |
- |
1 |
19-17104353-G-A |
c.1139C>T |
p.T380M |
Missense |
12/42 |
- |
2 |
19-17104357-C-T |
c.1135G>A |
p.V379M |
Missense |
12/42 |
- |
1 |
19-17104358-C-A |
c.1134G>T |
p.G378= |
Synonymous |
12/42 |
- |
1 |
19-17104358-C-G |
c.1134G>C |
p.G378= |
Synonymous |
12/42 |
- |
1 |
19-17104358-C-T |
c.1134G>A |
p.G378= |
Synonymous |
12/42 |
- |
1 |
19-17104360-C-T |
c.1132G>A |
p.G378R |
Missense |
12/42 |
- |
5 |
19-17104361-C-T |
c.1131G>A |
p.E377= |
Synonymous |
12/42 |
- |
4 |
19-17104363-C-G |
c.1129G>C |
p.E377Q |
Missense |
12/42 |
- |
2 |
19-17104363-C-T |
c.1129G>A |
p.E377K |
Missense |
12/42 |
- |
1 |
19-17104366-C-T |
c.1126G>A |
p.A376T |
Missense |
12/42 |
- |
4 |
19-17104369-G-A |
c.1123C>T |
p.P375S |
Missense |
12/42 |
- |
1 |
19-17104371-C-T |
c.1121G>A |
p.S374N |
Missense |
12/42 |
- |
3 |
19-17104375-C-T |
c.1117G>A |
p.G373S |
Missense |
12/42 |
- |
2 |
19-17104376-A-G |
c.1116T>C |
p.D372= |
Synonymous |
12/42 |
- |
2 |
19-17104378-C-A |
c.1114G>T |
p.D372Y |
Missense |
12/42 |
- |
1 |
19-17104378-C-T |
c.1114G>A |
p.D372N |
Missense |
12/42 |
- |
6 |
19-17104379-G-A |
c.1113C>T |
p.P371= |
Synonymous |
12/42 |
- |
3 |
19-17104381-G-A |
c.1111C>T |
p.P371S |
Missense |
12/42 |
- |
1 |
19-17104386-G-A |
c.1106C>T |
p.S369F |
Missense |
12/42 |
- |
1 |
19-17104387-A-G |
c.1105T>C |
p.S369P |
Missense |
12/42 |
- |
1 |
19-17104394-C-T |
c.1098G>A |
p.V366= |
Synonymous |
12/42 |
- |
2 |
19-17104433-C-G |
c.1096-37G>C |
- |
intron_variant |
- |
11/41 |
1 |
19-17104433-C-T |
c.1096-37G>A |
- |
intron_variant |
- |
11/41 |
1 |
19-17107825-G-A |
c.1095+96C>T |
- |
IntronicSNV |
- |
11/41 |
7 |
19-17107825-G-C |
c.1095+96C>G |
- |
intron_variant |
- |
11/41 |
5 |
19-17107925-C-T |
c.1091G>A |
p.G364E |
Missense |
11/42 |
- |
1 |
19-17107934-G-A |
c.1082C>T |
p.A361V |
Missense |
11/42 |
- |
1 |
19-17107940-C-G |
c.1076G>C |
p.G359A |
Missense |
11/42 |
- |
1 |
19-17107943-G-A |
c.1073C>T |
p.P358L |
Missense |
11/42 |
- |
4 |
19-17107953-G-A |
c.1063C>T |
p.Q355* |
Nonsense |
11/42 |
- |
2 |
19-17107957-CCT-ATG |
c.1057_1059delinsCAT |
p.R353H |
Missense |
11/42 |
- |
1 |
19-17107960-C-T |
c.1056G>A |
p.T352= |
Synonymous |
11/42 |
- |
1 |
19-17107966-C-A |
c.1050G>T |
p.K350N |
Missense |
11/42 |
- |
1 |
19-17107966-C-G |
c.1050G>C |
p.K350N |
Missense |
11/42 |
- |
1 |
19-17107970-G-A |
c.1046C>T |
p.S349F |
Missense |
11/42 |
- |
2 |
19-17107972-G-A |
c.1044C>T |
p.Y348= |
Synonymous |
11/42 |
- |
1 |
19-17107974-A-G |
c.1042T>C |
p.Y348H |
Missense |
11/42 |
- |
1 |
19-17107975-CC-AT |
c.1040_1041delinsAT |
p.R347H |
Missense |
11/42 |
- |
1 |
19-17107975-CCG-ACA |
c.1039_1041delinsTGT |
p.R347C |
Missense |
11/42 |
- |
1 |
19-17107977-G-C |
c.1039C>G |
p.R347G |
Missense |
11/42 |
- |
1 |
19-17107979-A-C |
c.1037T>G |
p.I346S |
Missense |
11/42 |
- |
1 |
19-17107983-C-T |
c.1033G>A |
p.D345N |
Missense |
11/42 |
- |
1 |
19-17107983-TCC-T |
c.1032_1033del |
p.D345Hfs*32 |
Frameshift |
11/42 |
- |
1 |
19-17107984-C-T |
c.1032G>A |
p.V344= |
Synonymous |
11/42 |
- |
1 |
19-17107992-G-A |
c.1024C>T |
p.Q342* |
Nonsense |
11/42 |
- |
1 |
19-17107993-C-T |
c.1023G>A |
p.R341= |
Synonymous |
11/42 |
- |
2 |
19-17107995-T-G |
c.1021A>C |
p.R341= |
Synonymous |
11/42 |
- |
1 |
19-17107994-CT-TG |
c.1021_1022delinsCA |
p.R341Q |
Missense |
11/42 |
- |
1 |
19-17107998-G-A |
c.1018C>T |
p.Q340* |
Nonsense |
11/42 |
- |
1 |
19-17107999-C-A |
c.1017G>T |
p.V339= |
Synonymous |
11/42 |
- |
1 |
19-17107999-C-G |
c.1017G>C |
p.V339= |
Synonymous |
11/42 |
- |
1 |
19-17107999-C-T |
c.1017G>A |
p.V339= |
Synonymous |
11/42 |
- |
1 |
19-17108000-A-G |
c.1016T>C |
p.V339A |
Missense |
11/42 |
- |
1 |
19-17108001-C-T |
c.1015G>A |
p.V339M |
Missense |
11/42 |
- |
2 |
19-17108002-G-A |
c.1014C>T |
p.P338= |
Synonymous |
11/42 |
- |
3 |
19-17108002-G-C |
c.1014C>G |
p.P338= |
Synonymous |
11/42 |
- |
1 |
19-17108002-G-T |
c.1014C>A |
p.P338= |
Synonymous |
11/42 |
- |
1 |
19-17108003-G-A |
c.1013C>T |
p.P338L |
Missense |
11/42 |
- |
3 |
19-17108004-G-A |
c.1012C>T |
p.P338S |
Missense |
11/42 |
- |
2 |
19-17108009-G-C |
c.1007C>G |
p.S336C |
Missense |
11/42 |
- |
1 |
19-17108017-G-C |
c.999C>G |
p.F333L |
Missense |
11/42 |
- |
1 |
19-17108017-G-T |
c.999C>A |
p.F333L |
Missense |
11/42 |
- |
1 |
19-17108019-A-G |
c.997T>C |
p.F333L |
Missense |
11/42 |
- |
1 |
19-17108022-C-A |
c.994G>T |
p.A332S |
missense_variant |
11/42 |
- |
1 |
19-17108022-C-T |
c.994G>A |
p.A332T |
Missense |
11/42 |
- |
4 |
19-17108023-G-A |
c.993C>T |
p.V331= |
Synonymous |
11/42 |
- |
2 |
19-17108023-G-C |
c.993C>G |
p.V331= |
Synonymous |
11/42 |
- |
1 |
19-17108023-G-T |
c.993C>A |
p.V331= |
Synonymous |
11/42 |
- |
3 |
19-17108025-C-T |
c.991G>A |
p.V331I |
Missense |
11/42 |
- |
1 |
19-17108029-C-A |
c.987G>T |
p.Q329H |
Missense |
11/42 |
- |
1 |
19-17108029-C-G |
c.987G>C |
p.Q329H |
Missense |
11/42 |
- |
1 |
19-17108033-CT-AG |
c.982_983inv |
p.S328L |
Missense |
11/42 |
- |
1 |
19-17108035-C-A |
c.981G>T |
p.G327= |
Synonymous |
11/42 |
- |
1 |
19-17108035-C-T |
c.981G>A |
p.G327= |
Synonymous |
11/42 |
- |
1 |
19-17108037-C-A |
c.979G>T |
p.G327W |
Missense |
11/42 |
- |
2 |
19-17108038-G-A |
c.978C>T |
p.D326= |
Synonymous |
11/42 |
- |
3 |
19-17108038-G-C |
c.978C>G |
p.D326E |
Missense |
11/42 |
- |
1 |
19-17108038-G-T |
c.978C>A |
p.D326E |
Missense |
11/42 |
- |
1 |
19-17108040-C-T |
c.976G>A |
p.D326N |
Missense |
11/42 |
- |
4 |
19-17108052-C-G |
c.964G>C |
p.V322L |
Missense |
11/42 |
- |
1 |
19-17108052-C-T |
c.964G>A |
p.V322M |
Missense |
11/42 |
- |
3 |
19-17108053-C-A |
c.963G>T |
p.M321I |
Missense |
11/42 |
- |
4 |
19-17108053-C-G |
c.963G>C |
p.M321I |
Missense |
11/42 |
- |
4 |
19-17108053-C-T |
c.963G>A |
p.M321I |
Missense |
11/42 |
- |
11 |
19-17108054-A-C |
c.962T>G |
p.M321R |
Missense |
11/42 |
- |
1 |
19-17108055-T-A |
c.961A>T |
p.M321L |
Missense |
11/42 |
- |
2 |
19-17108055-T-G |
c.961A>C |
p.M321L |
Missense |
11/42 |
- |
2 |
19-17108057-G-A |
c.959C>T |
p.A320V |
Missense |
11/42 |
- |
1 |
19-17108058-C-T |
c.958G>A |
p.A320T |
Missense |
11/42 |
- |
1 |
19-17108059-C-T |
c.957G>A |
p.W319* |
Nonsense |
11/42 |
- |
1 |
19-17108060-C-T |
c.956G>A |
p.W319* |
Nonsense |
11/42 |
- |
1 |
19-17108066-C-T |
c.950G>A |
p.S317N |
Missense |
11/42 |
- |
1 |
19-17108070-C-T |
c.1087G>A |
p.V363M |
Missense |
11/42 |
- |
1 |
19-17108071-CCT-ATG |
c.943_945delinsCAT |
p.R315H |
Missense |
11/42 |
- |
1 |
19-17108077-CC-AT |
c.938_939delinsAT |
p.R313H |
Missense |
11/42 |
- |
1 |
19-17108077-C-T |
c.939G>A |
p.R313= |
Synonymous |
11/42 |
- |
3 |
19-17108078-C-T |
c.938G>A |
p.R313Q |
Missense |
11/42 |
- |
4 |
19-17108079-G-A |
c.937C>T |
p.R313W |
Missense |
11/42 |
- |
1 |
19-17108083-G-C |
c.933C>G |
p.H311Q |
Missense |
11/42 |
- |
1 |
19-17108083-G-T |
c.933C>A |
p.H311Q |
Missense |
11/42 |
- |
1 |
19-17108085-G-T |
c.931C>A |
p.H311N |
Missense |
11/42 |
- |
1 |
19-17108088-C-G |
c.928G>C |
p.E310Q |
Missense |
11/42 |
- |
1 |
19-17108089-CA-C |
c.927del |
p.E310Sfs*13 |
Frameshift |
11/42 |
- |
1 |
19-17108094-C-T |
c.922G>A |
p.V308I |
Missense |
11/42 |
- |
10 |
19-17108095-G-A |
c.921C>T |
p.D307= |
Synonymous |
11/42 |
- |
1 |
19-17108098-C-A |
c.918G>T |
p.A306= |
Synonymous |
11/42 |
- |
1 |
19-17108098-C-T |
c.918G>A |
p.A306= |
Synonymous |
11/42 |
- |
2 |
19-17108099-G-A |
c.917C>T |
p.A306V |
Missense |
11/42 |
- |
1 |
19-17108099-G-T |
c.917C>A |
p.A306E |
Missense |
11/42 |
- |
1 |
19-17108100-C-A |
c.916G>T |
p.A306S |
Missense |
11/42 |
- |
2 |
19-17108103-G-A |
c.913C>T |
p.P305S |
Missense |
11/42 |
- |
1 |
19-17108106-T-C |
c.910A>G |
p.I304V |
Missense |
11/42 |
- |
1 |
19-17108107-C-T |
c.909G>A |
p.M303I |
Missense |
11/42 |
- |
1 |
19-17108112-C-T |
c.904G>A |
p.D302N |
Missense |
11/42 |
- |
3 |
19-17108113-CCT-ATG |
c.901_903delinsCAT |
p.R301H |
Missense |
11/42 |
- |
1 |
19-17108118-C-T |
c.898G>A |
p.V300M |
Missense |
11/42 |
- |
1 |
19-17108119-G-C |
c.897C>G |
p.C299W |
Missense |
11/42 |
- |
1 |
19-17108122-G-A |
c.894C>T |
p.I298= |
Synonymous |
11/42 |
- |
1 |
19-17108122-G-T |
c.894C>A |
p.I298= |
Synonymous |
11/42 |
- |
2 |
19-17108124-T-C |
c.892A>G |
p.I298V |
Missense |
11/42 |
- |
1 |
19-17108127-C-T |
c.889G>A |
p.D297N |
Missense |
11/42 |
- |
8 |
19-17108128-G-A |
c.888C>T |
p.F296= |
Synonymous |
11/42 |
- |
2 |
19-17108134-C-T |
c.882G>A |
p.R294= |
Synonymous |
11/42 |
- |
2 |
19-17108135-CG-TA |
c.880_881delinsTA |
p.R294* |
Nonsense |
11/42 |
- |
1 |
19-17108135-C-T |
c.881G>A |
p.R294Q |
Missense |
11/42 |
- |
25 |
19-17108134-C-A |
c.882G>T |
p.R294= |
Synonymous |
11/42 |
- |
1 |
19-17108134-C-G |
c.882G>C |
p.R294= |
Synonymous |
11/42 |
- |
1 |
19-17108136-G-A |
c.880C>T |
p.R294W |
Missense |
11/42 |
- |
8 |
19-17108136-G-T |
c.880C>A |
p.R294= |
Synonymous |
11/42 |
- |
1 |
19-17108137-GG-TT |
c.878_879delinsAA |
p.S293* |
Nonsense |
11/42 |
- |
1 |
19-17108138-G-A |
c.878C>T |
p.S293F |
Missense |
11/42 |
- |
3 |
19-17108140-G-A |
c.876C>T |
p.G292= |
Synonymous |
11/42 |
- |
1 |
19-17108140-GC-CT |
c.875_876delinsAG |
p.G292E |
Missense |
11/42 |
- |
1 |
19-17108001-C-A |
c.1015G>T |
p.V339L |
Missense |
11/42 |
- |
1 |
19-17108142-C-T |
c.874G>A |
p.G292S |
Missense |
11/42 |
- |
1 |
19-17108145-G-T |
c.871C>A |
p.L291I |
Missense |
11/42 |
- |
1 |
19-17108148-T-C |
c.868A>G |
p.I290V |
Missense |
11/42 |
- |
1 |
19-17108283-A-C |
c.868-135T>G |
- |
intron_variant |
- |
10/41 |
4 |
19-17108283-A-G |
c.868-135T>C |
- |
intron_variant |
- |
10/41 |
4 |
19-17108436-G-A |
c.868-288C>T |
- |
intron_variant |
- |
10/41 |
1 |
19-17108436-G-C |
c.868-288C>G |
- |
intron_variant |
- |
10/41 |
1 |
19-17111227-G-A |
c.864C>T |
p.T288= |
Synonymous |
10/42 |
- |
3 |
19-17111227-G-C |
c.864C>G |
p.T288= |
Synonymous |
10/42 |
- |
2 |
19-17111227-GG-CA |
c.863_864delinsTG |
p.T288M |
Missense |
10/42 |
- |
1 |
19-17111227-G-T |
c.864C>A |
p.T288= |
Synonymous |
10/42 |
- |
2 |
19-17111228-G-A |
c.863C>T |
p.T288I |
Missense |
10/42 |
- |
3 |
19-17111229-T-G |
c.862A>C |
p.T288P |
Missense |
10/42 |
- |
1 |
19-17111234-CT-TG |
c.856_857delinsCA |
p.R286Q |
Missense |
10/42 |
- |
1 |
19-17111239-GAC-CAT |
c.850_852delinsATG |
p.V284M |
Missense |
10/42 |
- |
1 |
19-17111244-G-C |
c.847C>G |
p.P283A |
Missense |
10/42 |
- |
1 |
19-17111245-G-A |
c.846C>T |
p.R282= |
Synonymous |
10/42 |
- |
1 |
19-17111245-G-C |
c.846C>G |
p.R282= |
Synonymous |
10/42 |
- |
1 |
19-17111245-GCG-CCA |
c.844_846delinsTGG |
p.R282W |
Missense |
10/42 |
- |
1 |
19-17111245-GC-TT |
c.845_846delinsAA |
p.R282Q |
Missense |
10/42 |
- |
1 |
19-17111245-G-T |
c.846C>A |
p.R282= |
Synonymous |
10/42 |
- |
1 |
19-17111246-C-T |
c.845G>A |
p.R282H |
Missense |
10/42 |
- |
3 |
19-17111250-C-T |
c.841G>A |
p.G281R |
Missense |
10/42 |
- |
2 |
19-17111253-C-A |
c.838G>T |
p.V280L |
Missense |
10/42 |
- |
2 |
19-17111253-C-T |
c.838G>A |
p.V280M |
Missense |
10/42 |
- |
1 |
19-17111256-C-G |
c.835G>C |
p.E279Q |
Missense |
10/42 |
- |
4 |
19-17111256-C-T |
c.835G>A |
p.E279K |
Missense |
10/42 |
- |
2 |
19-17111257-G-A |
c.834C>T |
p.H278= |
Synonymous |
10/42 |
- |
1 |
19-17111259-G-A |
c.832C>T |
p.H278Y |
Missense |
10/42 |
- |
1 |
19-17111261-C-T |
c.830G>A |
p.S277N |
Missense |
10/42 |
- |
1 |
19-17111263-G-C |
c.828C>G |
p.Y276* |
Nonsense |
10/42 |
- |
1 |
19-17111263-G-T |
c.828C>A |
p.Y276* |
Nonsense |
10/42 |
- |
1 |
19-17111267-T-C |
c.824A>G |
p.Y275C |
Missense |
10/42 |
- |
1 |
19-17111268-A-G |
c.823T>C |
p.Y275H |
Missense |
10/42 |
- |
1 |
19-17111269-C-T |
c.963G>A |
p.M321= |
Synonymous |
11/42 |
- |
2 |
19-17111270-C-G |
c.821G>C |
p.G274A |
Missense |
10/42 |
- |
1 |
19-17111272-T-C |
c.819A>G |
p.V273= |
Synonymous |
10/42 |
- |
2 |
19-17111283-C-T |
c.808G>A |
p.V270I |
Missense |
10/42 |
- |
2 |
19-17111287-C-A |
c.804G>T |
p.M268I |
Missense |
10/42 |
- |
1 |
19-17111287-C-G |
c.804G>C |
p.M268I |
Missense |
10/42 |
- |
1 |
19-17111287-C-T |
c.804G>A |
p.M268I |
Missense |
10/42 |
- |
1 |
19-17111292-T-C |
c.799A>G |
p.N267D |
Missense |
10/42 |
- |
1 |
19-17111293-G-A |
c.798C>T |
p.I266= |
Synonymous |
10/42 |
- |
3 |
19-17111293-G-T |
c.798C>A |
p.I266= |
Synonymous |
10/42 |
- |
1 |
19-17111294-A-G |
c.797T>C |
p.I266T |
Missense |
10/42 |
- |
1 |
19-17111296-C-A |
c.795G>T |
p.M265I |
Missense |
10/42 |
- |
3 |
19-17111296-C-G |
c.795G>C |
p.M265I |
Missense |
10/42 |
- |
3 |
19-17111296-C-T |
c.795G>A |
p.M265I |
Missense |
10/42 |
- |
4 |
19-17111297-A-G |
c.794T>C |
p.M265T |
Missense |
10/42 |
- |
33 |
19-17111297-A-T |
c.794T>A |
p.M265K |
missense_variant |
10/42 |
- |
8 |
19-17111305-A-C |
c.786T>G |
p.G262= |
Synonymous |
10/42 |
- |
2 |
19-17111305-A-G |
c.786T>C |
p.G262= |
Synonymous |
10/42 |
- |
1 |
19-17111305-A-T |
c.786T>A |
p.G262= |
Synonymous |
10/42 |
- |
2 |
19-17111313-C-A |
c.778G>T |
p.V260L |
Missense |
10/42 |
- |
1 |
19-17111313-C-G |
c.778G>C |
p.V260L |
Missense |
10/42 |
- |
1 |
19-17111314-A-C |
c.777T>G |
p.P259= |
Synonymous |
10/42 |
- |
1 |
19-17111314-A-G |
c.777T>C |
p.P259= |
Synonymous |
10/42 |
- |
1 |
19-17111314-A-T |
c.777T>A |
p.P259= |
Synonymous |
10/42 |
- |
1 |
19-17111320-C-T |
c.771G>A |
p.G257= |
Synonymous |
10/42 |
- |
1 |
19-17111327-G-A |
c.764C>T |
p.T255I |
Missense |
10/42 |
- |
1 |
19-17111331-A-G |
c.760T>C |
p.Y254H |
Missense |
10/42 |
- |
3 |
19-17111411-A-C |
c.759-79T>G |
- |
intron_variant |
- |
9/41 |
6 |
19-17111411-A-G |
c.759-79T>C |
- |
intron_variant |
- |
9/41 |
6 |
19-17111674-T-C |
c.759-342A>G |
- |
intron_variant |
- |
9/41 |
1 |
19-17111699-A-G |
c.759-367T>C |
- |
intron_variant |
- |
9/41 |
1 |
19-17112647-A-G |
c.758+429T>C |
- |
intron_variant |
- |
9/41 |
1 |
19-17112785-A-G |
c.758+291T>C |
- |
IntronicSNV |
- |
9/41 |
1 |
19-17112827-T-A |
c.758+249A>T |
- |
intron_variant |
- |
9/41 |
2 |
19-17112827-T-C |
c.758+249A>G |
- |
IntronicSNV |
- |
9/41 |
3 |
19-17112827-T-G |
c.758+249A>C |
- |
intron_variant |
- |
9/41 |
2 |
19-17112874-C-A |
c.758+202G>T |
- |
intron_variant |
- |
9/41 |
1 |
19-17112874-C-G |
c.758+202G>C |
- |
intron_variant |
- |
9/41 |
1 |
19-17112874-C-T |
c.758+202G>A |
- |
intron_variant |
- |
9/41 |
1 |
19-17112881-T-A |
c.758+195A>T |
- |
IntronicSNV |
- |
9/41 |
2 |
19-17112881-T-G |
c.758+195A>C |
- |
intron_variant |
- |
9/41 |
1 |
19-17112921-C-G |
c.758+155G>C |
- |
intron_variant |
- |
9/41 |
1 |
19-17112921-C-T |
c.758+155G>A |
- |
IntronicSNV |
- |
9/41 |
3 |
19-17112958-A-G |
c.758+118T>C |
- |
IntronicSNV |
- |
9/41 |
1 |
19-17113001-C-A |
c.758+75G>T |
- |
IntronicSNV |
- |
9/41 |
4 |
19-17113015-C-T |
c.758+61G>A |
- |
IntronicSNV |
- |
9/41 |
1 |
19-17113078-G-A |
c.756C>T |
p.A252= |
Synonymous |
9/42 |
- |
1 |
19-17113078-G-C |
c.756C>G |
p.A252= |
Synonymous |
9/42 |
- |
2 |
19-17113078-G-T |
c.756C>A |
p.A252= |
Synonymous |
9/42 |
- |
1 |
19-17113079-G-A |
c.755C>T |
p.A252V |
Missense |
9/42 |
- |
1 |
19-17113080-C-T |
c.754G>A |
p.A252T |
Missense |
9/42 |
- |
1 |
19-17113082-C-T |
c.752G>A |
p.R251Q |
Missense |
9/42 |
- |
2 |
19-17113083-G-A |
c.751C>T |
p.R251W |
missense_variant |
9/42 |
- |
5 |
19-17113083-G-T |
c.751C>A |
p.R251R |
synonymous_variant |
9/42 |
- |
1 |
19-17113085-A-T |
c.749T>A |
p.V250E |
Missense |
9/42 |
- |
1 |
19-17113086-C-A |
c.889G>T |
p.D297Y |
Missense |
11/42 |
- |
3 |
19-17113086-C-G |
c.889G>C |
p.D297H |
Missense |
11/42 |
- |
3 |
19-17113086-C-T |
c.889G>A |
p.D297N |
Missense |
11/42 |
- |
3 |
19-17113088-G-T |
c.746C>A |
p.T249N |
Missense |
9/42 |
- |
1 |
19-17113091-C-A |
c.743G>T |
p.G248V |
Missense |
9/42 |
- |
1 |
19-17113092-C-A |
c.742G>T |
p.G248C |
Missense |
9/42 |
- |
1 |
19-17113095-T-C |
c.739A>G |
p.T247A |
Missense |
9/42 |
- |
1 |
19-17113096-CT-TA |
c.737_738delinsTA |
p.E246V |
Missense |
9/42 |
- |
1 |
19-17113097-T-C |
c.737A>G |
p.E246G |
Missense |
9/42 |
- |
2 |
19-17113097-T-TC |
c.736dup |
p.E246Gfs*26 |
Frameshift |
9/42 |
- |
1 |
19-17113098-C-G |
c.736G>C |
p.E246Q |
Missense |
9/42 |
- |
1 |
19-17113098-C-T |
c.736G>A |
p.E246K |
Missense |
9/42 |
- |
1 |
19-17113103-G-A |
c.731C>T |
p.A244V |
Missense |
9/42 |
- |
3 |
19-17113104-C-T |
c.730G>A |
p.A244T |
Missense |
9/42 |
- |
3 |
19-17113107-C-T |
c.727G>A |
p.D243N |
Missense |
9/42 |
- |
1 |
19-17113108-C-A |
c.726G>T |
p.L242= |
Synonymous |
9/42 |
- |
1 |
19-17113108-C-G |
c.726G>C |
p.L242= |
Synonymous |
9/42 |
- |
1 |
19-17113108-C-T |
c.726G>A |
p.L242= |
Synonymous |
9/42 |
- |
1 |
19-17113110-G-A |
c.724C>T |
p.L242= |
Synonymous |
9/42 |
- |
2 |
19-17113113-C-T |
c.721G>A |
p.D241N |
Missense |
9/42 |
- |
1 |
19-17113124-C-T |
c.710G>A |
p.R237Q |
Missense |
9/42 |
- |
1 |
19-17113125-G-A |
c.709C>T |
p.R237W |
Missense |
9/42 |
- |
3 |
19-17113128-G-C |
c.706C>G |
p.P236A |
Missense |
9/42 |
- |
1 |
19-17113139-A-G |
c.695T>C |
p.L232P |
Missense |
9/42 |
- |
1 |
19-17113143-G-T |
c.691C>A |
p.L231I |
Missense |
9/42 |
- |
1 |
19-17113146-C-T |
c.688G>A |
p.E230K |
Missense |
9/42 |
- |
1 |
19-17113147-A-G |
c.687T>C |
p.F229= |
Synonymous |
9/42 |
- |
12 |
19-17113151-T-G |
c.683A>C |
p.K228T |
Missense |
9/42 |
- |
1 |
19-17113153-G-A |
c.681C>T |
p.P227= |
Synonymous |
9/42 |
- |
2 |
19-17113153-G-C |
c.681C>G |
p.P227= |
Synonymous |
9/42 |
- |
2 |
19-17113153-G-T |
c.681C>A |
p.P227= |
Synonymous |
9/42 |
- |
2 |
19-17113156-C-A |
c.678G>T |
p.L226F |
Missense |
9/42 |
- |
2 |
19-17113156-C-G |
c.678G>C |
p.L226F |
Missense |
9/42 |
- |
2 |
19-17113160-A-G |
c.674T>C |
p.V225A |
Missense |
9/42 |
- |
3 |
19-17113634-G-A |
c.674-474C>T |
- |
intron_variant |
- |
8/41 |
1 |
19-17115085-T-C |
c.671A>G |
p.Y224C |
Missense |
8/42 |
- |
3 |
19-17115085-T-G |
c.671A>C |
p.Y224S |
Missense |
8/42 |
- |
1 |
19-17115095-C-A |
c.661G>T |
p.V221F |
Missense |
8/42 |
- |
1 |
19-17115103-G-T |
c.653C>A |
p.S218Y |
Missense |
8/42 |
- |
1 |
19-17115105-CTTG-C |
c.648_650del |
p.N216del |
InFrameDeletion |
8/42 |
- |
1 |
19-17115115-G-A |
c.641C>T |
p.A214V |
Missense |
8/42 |
- |
1 |
19-17115116-C-T |
c.640G>A |
p.A214T |
Missense |
8/42 |
- |
2 |
19-17115117-G-A |
c.639C>T |
p.H213= |
Synonymous |
8/42 |
- |
1 |
19-17115134-C-T |
c.622G>A |
p.V208I |
Missense |
8/42 |
- |
1 |
19-17115141-G-A |
c.615C>T |
p.F205= |
Synonymous |
8/42 |
- |
1 |
19-17115143-A-G |
c.613T>C |
p.F205L |
Missense |
8/42 |
- |
4 |
19-17115151-CC-TT |
c.604_605delinsAA |
p.G202K |
Missense |
8/42 |
- |
1 |
19-17115151-C-T |
c.605G>A |
p.G202E |
Missense |
8/42 |
- |
1 |
19-17115152-C-A |
c.604G>T |
p.G202* |
Nonsense |
8/42 |
- |
1 |
19-17115152-C-T |
c.604G>A |
p.G202R |
Missense |
8/42 |
- |
1 |
19-17115153-C-A |
c.603G>T |
p.L201F |
Missense |
8/42 |
- |
1 |
19-17115153-C-G |
c.603G>C |
p.L201F |
Missense |
8/42 |
- |
1 |
19-17115153-C-T |
c.603G>A |
p.L201= |
Synonymous |
8/42 |
- |
3 |
19-17115157-A-G |
c.599T>C |
p.V200A |
Missense |
8/42 |
- |
1 |
19-17115158-C-T |
c.598G>A |
p.V200M |
Missense |
8/42 |
- |
1 |
19-17115162-C-T |
c.594G>A |
p.Q198= |
Synonymous |
8/42 |
- |
1 |
19-17115165-G-A |
c.591C>T |
p.D197= |
Synonymous |
8/42 |
- |
1 |
19-17115167-C-A |
c.589G>T |
p.D197Y |
Missense |
8/42 |
- |
1 |
19-17115167-C-T |
c.589G>A |
p.D197N |
Missense |
8/42 |
- |
4 |
19-17115168-G-A |
c.588C>T |
p.S196= |
Synonymous |
8/42 |
- |
3 |
19-17115171-C-T |
c.585G>A |
p.L195= |
Synonymous |
8/42 |
- |
1 |
19-17115173-A-G |
c.583T>C |
p.L195= |
Synonymous |
8/42 |
- |
1 |
19-17115177-G-A |
c.579C>T |
p.F193= |
Synonymous |
8/42 |
- |
1 |
19-17115177-G-T |
c.579C>A |
p.F193L |
Missense |
8/42 |
- |
1 |
19-17115180-G-A |
c.576C>T |
p.S192= |
Synonymous |
8/42 |
- |
1 |
19-17115181-C-G |
c.575G>C |
p.S192T |
Missense |
8/42 |
- |
1 |
19-17115183-C-A |
c.573G>T |
p.M191I |
Missense |
8/42 |
- |
1 |
19-17115183-C-G |
c.573G>C |
p.M191I |
Missense |
8/42 |
- |
1 |
19-17115183-C-T |
c.573G>A |
p.M191I |
Missense |
8/42 |
- |
1 |
19-17115189-GG-CA |
c.566_567delinsTG |
p.T189M |
Missense |
8/42 |
- |
1 |
19-17118433-C-T |
c.559+882G>A |
- |
intron_variant |
- |
7/41 |
2 |
19-17119314-C-A |
c.559+1G>T |
- |
IntronicSNV |
- |
7/41 |
2 |
19-17119315-C-T |
c.559G>A |
p.G187S |
Missense |
7/42 |
- |
4 |
19-17119316-G-A |
c.558C>T |
p.C186= |
Synonymous |
7/42 |
- |
1 |
19-17119317-GC-G |
c.557del |
p.C186Sfs*6 |
Frameshift |
7/42 |
- |
1 |
19-17119321-A-G |
c.553T>C |
p.C185R |
Missense |
7/42 |
- |
2 |
19-17119322-G-C |
c.552C>G |
p.F184L |
Missense |
7/42 |
- |
1 |
19-17119322-G-T |
c.552C>A |
p.F184L |
Missense |
7/42 |
- |
1 |
19-17119324-A-G |
c.550T>C |
p.F184L |
Missense |
7/42 |
- |
1 |
19-17119326-G-A |
c.548C>T |
p.P183L |
Missense |
7/42 |
- |
2 |
19-17119330-T-C |
c.544A>G |
p.K182E |
Missense |
7/42 |
- |
4 |
19-17119334-G-A |
c.540C>T |
p.H180= |
Synonymous |
7/42 |
- |
1 |
19-17119337-TCT-ACA |
c.535_537delinsTGT |
p.R179C |
Missense |
7/42 |
- |
2 |
19-17119340-C-T |
c.534G>A |
p.W178* |
Nonsense |
7/42 |
- |
2 |
19-17119341-C-T |
c.533G>A |
p.W178* |
Nonsense |
7/42 |
- |
1 |
19-17119344-T-C |
c.530A>G |
p.E177G |
Missense |
7/42 |
- |
1 |
19-17119350-A-C |
c.524T>G |
p.M175R |
Missense |
7/42 |
- |
4 |
19-17119353-C-T |
c.521G>A |
p.R174Q |
Missense |
7/42 |
- |
2 |
19-17119354-G-A |
c.520C>T |
p.R174W |
missense_variant |
7/42 |
- |
1 |
19-17119359-C-A |
c.515G>T |
p.G172V |
Missense |
7/42 |
- |
2 |
19-17119361-TCG-ACA |
c.511_513delinsTGT |
p.R171C |
Missense |
7/42 |
- |
1 |
19-17119362-C-A |
c.512G>T |
p.R171L |
Missense |
7/42 |
- |
3 |
19-17119366-G-A |
c.508C>T |
p.P170S |
Missense |
7/42 |
- |
3 |
19-17119367-G-A |
c.507C>T |
p.D169= |
Synonymous |
7/42 |
- |
1 |
19-17119369-C-T |
c.505G>A |
p.D169N |
Missense |
7/42 |
- |
1 |
19-17119560-T-A |
c.505-191A>T |
- |
intron_variant |
- |
6/41 |
6 |
19-17119560-T-C |
c.505-191A>G |
- |
intron_variant |
- |
6/41 |
6 |
19-17119560-T-G |
c.505-191A>C |
- |
intron_variant |
- |
6/41 |
6 |
19-17119747-CA-C |
c.504+365del |
- |
IntronicDeletion |
- |
6/41 |
1 |
19-17119798-C-G |
c.504+315G>C |
- |
IntronicSNV |
- |
6/41 |
1 |
19-17119906-C-T |
c.504+207G>A |
- |
IntronicSNV |
- |
6/41 |
1 |
19-17119906-TC-T |
c.504+207del |
- |
IntronicDeletion |
- |
6/41 |
1 |
19-17119906-CA-C |
c.504+206del |
- |
IntronicDeletion |
- |
6/41 |
1 |
19-17119934-A-G |
c.504+179T>C |
- |
IntronicSNV |
- |
6/41 |
1 |
19-17120035-C-G |
c.504+78G>C |
- |
intron_variant |
- |
6/41 |
1 |
19-17120035-C-T |
c.504+78G>A |
- |
intron_variant |
- |
6/41 |
1 |
19-17120090-G-A |
c.504+23C>T |
- |
intron_variant |
- |
6/41 |
1 |
19-17120113-C-T |
c.504G>A |
p.L168= |
Synonymous |
6/42 |
- |
3 |
19-17120117-A-T |
c.500T>A |
p.I167N |
Missense |
6/42 |
- |
1 |
19-17120118-T-G |
c.499A>C |
p.I167L |
Missense |
6/42 |
- |
1 |
19-17120120-T-C |
c.497A>G |
p.Y166C |
Missense |
6/42 |
- |
4 |
19-17120122-G-T |
c.495C>A |
p.A165= |
Synonymous |
6/42 |
- |
1 |
19-17120124-C-T |
c.493G>A |
p.A165T |
Missense |
6/42 |
- |
1 |
19-17120125-T-C |
c.492A>G |
p.E164= |
Synonymous |
6/42 |
- |
2 |
19-17120128-CAG-AAA |
c.487_489delinsTTT |
p.L163F |
Missense |
6/42 |
- |
1 |
19-17120129-A-C |
c.488T>G |
p.L163R |
Missense |
6/42 |
- |
1 |
19-17120302-G-A |
c.487-172C>T |
- |
intron_variant |
- |
5/41 |
1 |
19-17121533-A-C |
c.486+741T>G |
- |
intron_variant |
- |
5/41 |
2 |
19-17122274-C-A |
c.486G>T |
p.K162N |
Missense |
5/42 |
- |
1 |
19-17122274-C-G |
c.486G>C |
p.K162N |
Missense |
5/42 |
- |
1 |
19-17122274-C-T |
c.486G>A |
p.K162= |
Synonymous |
5/42 |
- |
2 |
19-17122279-C-T |
c.481G>A |
p.E161K |
Missense |
5/42 |
- |
1 |
19-17122284-A-T |
c.476T>A |
p.V159D |
Missense |
5/42 |
- |
1 |
19-17122285-C-A |
c.475G>T |
p.V159F |
Missense |
5/42 |
- |
2 |
19-17122286-A-T |
c.474T>A |
p.P158= |
Synonymous |
5/42 |
- |
1 |
19-17122287-G-A |
c.473C>T |
p.P158L |
Missense |
5/42 |
- |
3 |
19-17122287-G-T |
c.473C>A |
p.P158H |
Missense |
5/42 |
- |
1 |
19-17122288-G-A |
c.472C>T |
p.P158S |
Missense |
5/42 |
- |
1 |
19-17122289-CCT-ACA |
c.469_471delinsTGT |
p.R157C |
Missense |
5/42 |
- |
1 |
19-17122289-C-T |
c.471G>A |
p.R157= |
Synonymous |
5/42 |
- |
1 |
19-17122291-T-A |
c.469A>T |
p.R157W |
Missense |
5/42 |
- |
3 |
19-17122295-A-G |
c.465T>C |
p.N155= |
Synonymous |
5/42 |
- |
2 |
19-17122296-T-C |
c.464A>G |
p.N155S |
Missense |
5/42 |
- |
1 |
19-17122298-T-A |
c.462A>T |
p.P154= |
Synonymous |
5/42 |
- |
1 |
19-17122298-T-C |
c.462A>G |
p.P154= |
Synonymous |
5/42 |
- |
1 |
19-17122298-T-G |
c.462A>C |
p.P154= |
Synonymous |
5/42 |
- |
1 |
19-17122304-G-A |
c.456C>T |
p.V152= |
Synonymous |
5/42 |
- |
1 |
19-17122306-C-T |
c.454G>A |
p.V152I |
Missense |
5/42 |
- |
7 |
19-17122307-G-A |
c.453C>T |
p.T151= |
Synonymous |
5/42 |
- |
1 |
19-17122307-G-C |
c.453C>G |
p.T151= |
Synonymous |
5/42 |
- |
1 |
19-17122307-G-T |
c.453C>A |
p.T151= |
Synonymous |
5/42 |
- |
1 |
19-17122308-G-A |
c.452C>T |
p.T151I |
Missense |
5/42 |
- |
4 |
19-17122309-T-C |
c.451A>G |
p.T151A |
Missense |
5/42 |
- |
4 |
19-17122320-A-G |
c.440T>C |
p.I147T |
Missense |
5/42 |
- |
2 |
19-17122321-T-C |
c.439A>G |
p.I147V |
Missense |
5/42 |
- |
1 |
19-17122322-G-A |
c.438C>T |
p.L146= |
Synonymous |
5/42 |
- |
1 |
19-17122322-G-C |
c.438C>G |
p.L146= |
Synonymous |
5/42 |
- |
1 |
19-17122322-G-T |
c.438C>A |
p.L146= |
Synonymous |
5/42 |
- |
1 |
19-17122394-C-T |
c.433+8G>A |
- |
IntronicSNV |
- |
4/41 |
1 |
19-17122402-C-T |
c.433G>A |
p.V145M |
Missense |
4/42 |
- |
3 |
19-17122404-C-T |
c.431G>A |
p.R144Q |
Missense |
4/42 |
- |
9 |
19-17122405-G-A |
c.430C>T |
p.R144* |
Nonsense |
4/42 |
- |
2 |
19-17122412-G-A |
c.423C>T |
p.P141= |
Synonymous |
4/42 |
- |
1 |
19-17122413-G-A |
c.422C>T |
p.P141L |
Missense |
4/42 |
- |
1 |
19-17122415-T-C |
c.420A>G |
p.R140= |
Synonymous |
4/42 |
- |
1 |
19-17122417-T-G |
c.418A>C |
p.R140= |
Synonymous |
4/42 |
- |
1 |
19-17122416-C-T |
c.419G>A |
p.R140K |
Missense |
4/42 |
- |
1 |
19-17122423-C-A |
c.412G>T |
p.V138L |
Missense |
4/42 |
- |
4 |
19-17122423-C-G |
c.412G>C |
p.V138L |
Missense |
4/42 |
- |
1 |
19-17122431-T-C |
c.404A>G |
p.D135G |
Missense |
4/42 |
- |
1 |
19-17122432-C-T |
c.403G>A |
p.D135N |
Missense |
4/42 |
- |
5 |
19-17122433-C-T |
c.402G>A |
p.T134= |
Synonymous |
4/42 |
- |
3 |
19-17122434-G-A |
c.401C>T |
p.T134M |
Missense |
4/42 |
- |
3 |
19-17122437-T-G |
c.398A>C |
p.Q133P |
Missense |
4/42 |
- |
1 |
19-17122440-A-G |
c.395T>C |
p.I132T |
Missense |
4/42 |
- |
1 |
19-17122442-G-A |
c.393C>T |
p.F131= |
Synonymous |
4/42 |
- |
4 |
19-17122447-C-A |
c.388G>T |
p.V130L |
Missense |
4/42 |
- |
1 |
19-17122452-G-T |
c.383C>A |
p.A128D |
Missense |
4/42 |
- |
1 |
19-17122454-G-A |
c.381C>T |
p.G127= |
Synonymous |
4/42 |
- |
3 |
19-17122454-G-C |
c.381C>G |
p.G127= |
Synonymous |
4/42 |
- |
2 |
19-17122454-G-T |
c.381C>A |
p.G127= |
Synonymous |
4/42 |
- |
3 |
19-17122455-C-T |
c.380G>A |
p.G127D |
Missense |
4/42 |
- |
2 |
19-17122458-C-T |
c.377G>A |
p.R126Q |
Missense |
4/42 |
- |
1 |
19-17122457-C-A |
c.378G>T |
p.R126= |
Synonymous |
4/42 |
- |
1 |
19-17122457-C-G |
c.378G>C |
p.R126= |
Synonymous |
4/42 |
- |
1 |
19-17122457-C-T |
c.378G>A |
p.R126= |
Synonymous |
4/42 |
- |
1 |
19-17122459-G-A |
c.376C>T |
p.R126W |
Missense |
4/42 |
- |
3 |
19-17122459-G-T |
c.376C>A |
p.R126= |
Synonymous |
4/42 |
- |
1 |
19-17122460-G-A |
c.375C>T |
p.G125= |
Synonymous |
4/42 |
- |
1 |
19-17122460-G-C |
c.375C>G |
p.G125= |
Synonymous |
4/42 |
- |
1 |
19-17122460-G-T |
c.375C>A |
p.G125= |
Synonymous |
4/42 |
- |
2 |
19-17122463-G-A |
c.372C>T |
p.D124= |
Synonymous |
4/42 |
- |
2 |
19-17122465-C-A |
c.370G>T |
p.D124Y |
Missense |
4/42 |
- |
1 |
19-17122468-C-T |
c.367G>A |
p.V123M |
Missense |
4/42 |
- |
3 |
19-17122469-G-A |
c.366C>T |
p.T122= |
Synonymous |
4/42 |
- |
3 |
19-17122469-G-C |
c.366C>G |
p.T122= |
Synonymous |
4/42 |
- |
5 |
19-17122469-G-T |
c.366C>A |
p.T122= |
Synonymous |
4/42 |
- |
2 |
19-17122472-C-T |
c.363G>A |
p.V121= |
Synonymous |
4/42 |
- |
1 |
19-17122473-A-G |
c.362T>C |
p.V121A |
Missense |
4/42 |
- |
1 |
19-17122475-C-T |
c.360G>A |
p.S120= |
Synonymous |
4/42 |
- |
1 |
19-17122482-T-A |
c.353A>T |
p.Q118L |
Missense |
4/42 |
- |
1 |
19-17122483-G-A |
c.352C>T |
p.Q118* |
Nonsense |
4/42 |
- |
1 |
19-17122490-A-C |
c.345T>G |
p.F115L |
Missense |
4/42 |
- |
1 |
19-17122490-A-T |
c.345T>A |
p.F115L |
Missense |
4/42 |
- |
1 |
19-17122492-A-G |
c.343T>C |
p.F115L |
Missense |
4/42 |
- |
1 |
19-17122493-G-A |
c.342C>T |
p.L114= |
Synonymous |
4/42 |
- |
1 |
19-17122493-G-C |
c.342C>G |
p.L114= |
Synonymous |
4/42 |
- |
1 |
19-17122493-G-T |
c.342C>A |
p.L114= |
Synonymous |
4/42 |
- |
1 |
19-17122495-G-A |
c.340C>T |
p.L114F |
Missense |
4/42 |
- |
1 |
19-17122497-G-A |
c.338C>T |
p.P113L |
Missense |
4/42 |
- |
1 |
19-17122498-G-A |
c.337C>T |
p.P113S |
Missense |
4/42 |
- |
1 |
19-17122499-C-T |
c.336G>A |
p.G112= |
Synonymous |
4/42 |
- |
1 |
19-17122507-C-T |
c.328G>A |
p.E110K |
Missense |
4/42 |
- |
3 |
19-17122508-C-T |
c.327G>A |
p.A109= |
Synonymous |
4/42 |
- |
3 |
19-17122509-G-A |
c.326C>T |
p.A109V |
Missense |
4/42 |
- |
1 |
19-17122514-C-A |
c.321G>T |
p.W107C |
Missense |
4/42 |
- |
1 |
19-17122514-C-G |
c.321G>C |
p.W107C |
Missense |
4/42 |
- |
1 |
19-17122520-G-A |
c.315C>T |
p.R105= |
Synonymous |
4/42 |
- |
1 |
19-17122521-C-T |
c.314G>A |
p.R105H |
Missense |
4/42 |
- |
2 |
19-17122522-G-A |
c.313C>T |
p.R105C |
Missense |
4/42 |
- |
1 |
19-17122523-G-A |
c.312C>T |
p.G104= |
Synonymous |
4/42 |
- |
1 |
19-17122523-G-C |
c.312C>G |
p.G104= |
Synonymous |
4/42 |
- |
1 |
19-17122523-G-T |
c.312C>A |
p.G104= |
Synonymous |
4/42 |
- |
1 |
19-17122524-C-A |
c.311G>T |
p.G104V |
Missense |
4/42 |
- |
1 |
19-17122526-C-A |
c.309G>T |
p.W103C |
Missense |
4/42 |
- |
3 |
19-17122526-C-G |
c.309G>C |
p.W103C |
Missense |
4/42 |
- |
2 |
19-17122526-C-T |
c.309G>A |
p.W103* |
Nonsense |
4/42 |
- |
4 |
19-17122531-C-T |
c.304G>A |
p.V102M |
Missense |
4/42 |
- |
1 |
19-17122535-CAG-AAA |
c.298_300delinsTTT |
p.L100F |
Missense |
4/42 |
- |
1 |
19-17122539-A-G |
c.296T>C |
p.L99P |
Missense |
4/42 |
- |
1 |
19-17122541-C-A |
c.294G>T |
p.A98= |
Synonymous |
4/42 |
- |
1 |
19-17122541-C-G |
c.294G>C |
p.A98= |
Synonymous |
4/42 |
- |
1 |
19-17122541-C-T |
c.294G>A |
p.A98= |
Synonymous |
4/42 |
- |
1 |
19-17122545-T-C |
c.290A>G |
p.Q97R |
Missense |
4/42 |
- |
1 |
19-17122546-G-A |
c.289C>T |
p.Q97* |
Nonsense |
4/42 |
- |
1 |
19-17122547-G-T |
c.288C>A |
p.G96= |
Synonymous |
4/42 |
- |
1 |
19-17122551-C-A |
c.284G>T |
p.R95L |
Missense |
4/42 |
- |
1 |
19-17122556-GC-CT |
c.278_279delinsAG |
p.G93E |
Missense |
4/42 |
- |
1 |
19-17122557-C-T |
c.278G>A |
p.G93D |
Missense |
4/42 |
- |
1 |
19-17122560-G-A |
c.275C>T |
p.T92M |
Missense |
4/42 |
- |
1 |
19-17122561-T-C |
c.274A>G |
p.T92A |
Missense |
4/42 |
- |
1 |
19-17122561-T-G |
c.274A>C |
p.T92P |
Missense |
4/42 |
- |
1 |
19-17122562-G-A |
c.273C>T |
p.P91= |
Synonymous |
4/42 |
- |
1 |
19-17122630-G-A |
c.268-63C>T |
- |
intron_variant |
- |
3/41 |
5 |
19-17122648-G-A |
c.268-81C>T |
- |
intron_variant |
- |
3/41 |
1 |
19-17126823-G-A |
c.268-4256C>T |
- |
intron_variant |
- |
3/41 |
1 |
19-17128128-G-A |
c.267+3013C>T |
- |
intron_variant |
- |
3/41 |
1 |
19-17128128-G-T |
c.267+3013C>A |
- |
intron_variant |
- |
3/41 |
1 |
19-17130420-C-A |
c.267+721G>T |
- |
IntronicSNV |
- |
3/41 |
1 |
19-17130428-C-A |
c.267+713G>T |
- |
IntronicSNV |
- |
3/41 |
1 |
19-17130781-C-T |
c.267+360G>A |
- |
intron_variant |
- |
3/41 |
1 |
19-17130870-C-T |
c.267+271G>A |
- |
IntronicSNV |
- |
3/41 |
1 |
19-17130975-G-C |
c.267+166C>G |
- |
IntronicSNV |
- |
3/41 |
1 |
19-17131141-C-T |
c.267G>A |
p.K89= |
Synonymous |
3/42 |
- |
2 |
19-17131142-T-C |
c.266A>G |
p.K89R |
Missense |
3/42 |
- |
1 |
19-17131144-G-C |
c.264C>G |
p.L88= |
Synonymous |
3/42 |
- |
1 |
19-17131147-T-A |
c.261A>T |
p.K87N |
Missense |
3/42 |
- |
1 |
19-17131147-T-G |
c.261A>C |
p.K87N |
Missense |
3/42 |
- |
1 |
19-17131148-T-G |
c.260A>C |
p.K87T |
Missense |
3/42 |
- |
1 |
19-17131150-G-C |
c.258C>G |
p.I86M |
Missense |
3/42 |
- |
5 |
19-17131152-T-C |
c.256A>G |
p.I86V |
Missense |
3/42 |
- |
1 |
19-17131156-C-T |
c.252G>A |
p.G84= |
Synonymous |
3/42 |
- |
1 |
19-17131157-C-A |
c.251G>T |
p.G84V |
Missense |
3/42 |
- |
1 |
19-17131162-A-G |
c.246T>C |
p.D82= |
Synonymous |
3/42 |
- |
1 |
19-17132841-C-A |
c.243G>T |
p.L81= |
Synonymous |
2/42 |
- |
1 |
19-17132841-C-G |
c.243G>C |
p.L81= |
Synonymous |
2/42 |
- |
1 |
19-17132841-C-T |
c.243G>A |
p.L81= |
Synonymous |
2/42 |
- |
1 |
19-17132843-G-A |
c.241C>T |
p.L81= |
Synonymous |
2/42 |
- |
2 |
19-17132844-G-A |
c.240C>T |
p.I80= |
Synonymous |
2/42 |
- |
1 |
19-17132844-G-T |
c.240C>A |
p.I80= |
Synonymous |
2/42 |
- |
1 |
19-17132847-G-C |
c.237C>G |
p.A79= |
Synonymous |
2/42 |
- |
2 |
19-17132852-C-G |
c.232G>C |
p.G78R |
Missense |
2/42 |
- |
1 |
19-17132852-C-T |
c.232G>A |
p.G78R |
Missense |
2/42 |
- |
1 |
19-17132854-T-C |
c.230A>G |
p.Q77R |
Missense |
2/42 |
- |
1 |
19-17132858-T-C |
c.226A>G |
p.S76G |
Missense |
2/42 |
- |
1 |
19-17132859-C-T |
c.225G>A |
p.Q75= |
Synonymous |
2/42 |
- |
1 |
19-17132862-C-A |
c.222G>T |
p.V74= |
Synonymous |
2/42 |
- |
1 |
19-17132862-C-G |
c.222G>C |
p.V74= |
Synonymous |
2/42 |
- |
1 |
19-17132862-C-T |
c.222G>A |
p.V74= |
Synonymous |
2/42 |
- |
1 |
19-17132865-C-A |
c.219G>T |
p.V73= |
Synonymous |
2/42 |
- |
1 |
19-17132865-C-G |
c.219G>C |
p.V73= |
Synonymous |
2/42 |
- |
1 |
19-17132865-C-T |
c.219G>A |
p.V73= |
Synonymous |
2/42 |
- |
2 |
19-17132868-C-A |
c.216G>T |
p.P72= |
Synonymous |
2/42 |
- |
1 |
19-17132868-C-G |
c.216G>C |
p.P72= |
Synonymous |
2/42 |
- |
1 |
19-17132868-C-T |
c.216G>A |
p.P72= |
Synonymous |
2/42 |
- |
1 |
19-17132869-G-A |
c.215C>T |
p.P72L |
Missense |
2/42 |
- |
3 |
19-17132872-T-C |
c.212A>G |
p.E71G |
Missense |
2/42 |
- |
1 |
19-17132873-C-T |
c.211G>A |
p.E71K |
Missense |
2/42 |
- |
1 |
19-17132876-C-T |
c.208G>A |
p.G70S |
Missense |
2/42 |
- |
2 |
19-17132877-C-A |
c.207G>T |
p.Q69H |
Missense |
2/42 |
- |
2 |
19-17132877-C-G |
c.207G>C |
p.Q69H |
Missense |
2/42 |
- |
3 |
19-17132877-C-T |
c.207G>A |
p.Q69= |
Synonymous |
2/42 |
- |
1 |
19-17132881-G-A |
c.203C>T |
p.A68V |
Missense |
2/42 |
- |
1 |
19-17132885-C-T |
c.199G>A |
p.V67M |
Missense |
2/42 |
- |
1 |
19-17132887-AG-GA |
c.196_197delinsTC |
p.L66S |
Missense |
2/42 |
- |
2 |
19-17132891-G-A |
c.193C>T |
p.Q65* |
Nonsense |
2/42 |
- |
2 |
19-17132898-G-A |
c.186C>T |
p.V62= |
Synonymous |
2/42 |
- |
1 |
19-17132898-G-C |
c.186C>G |
p.V62= |
Synonymous |
2/42 |
- |
1 |
19-17132898-G-T |
c.186C>A |
p.V62= |
Synonymous |
2/42 |
- |
1 |
19-17132901-C-A |
c.183G>T |
p.T61= |
Synonymous |
2/42 |
- |
2 |
19-17132901-C-G |
c.183G>C |
p.T61= |
Synonymous |
2/42 |
- |
1 |
19-17132901-C-T |
c.183G>A |
p.T61= |
Synonymous |
2/42 |
- |
1 |
19-17132902-G-A |
c.182C>T |
p.T61M |
Missense |
2/42 |
- |
3 |
19-17132904-GAC-CAT |
c.178_180delinsATG |
p.V60M |
Missense |
2/42 |
- |
1 |
19-17132907-T-C |
c.177A>G |
p.E59= |
Synonymous |
2/42 |
- |
1 |
19-17132909-C-T |
c.175G>A |
p.E59K |
Missense |
2/42 |
- |
1 |
19-17132910-C-T |
c.174G>A |
p.R58= |
Synonymous |
2/42 |
- |
1 |
19-17132912-T-G |
c.172A>C |
p.R58= |
Synonymous |
2/42 |
- |
1 |
19-17132911-C-A |
c.173G>T |
p.R58M |
Missense |
2/42 |
- |
1 |
19-17132911-C-T |
c.173G>A |
p.R58K |
Missense |
2/42 |
- |
2 |
19-17132911-CT-TG |
c.172_173delinsCA |
p.R58Q |
Missense |
2/42 |
- |
1 |
19-17132915-G-T |
c.169C>A |
p.P57T |
Missense |
2/42 |
- |
2 |
19-17132927-T-A |
c.157A>T |
p.I53F |
Missense |
2/42 |
- |
1 |
19-17132930-T-C |
c.154A>G |
p.T52A |
Missense |
2/42 |
- |
1 |
19-17132933-C-T |
c.151G>A |
p.V51M |
Missense |
2/42 |
- |
2 |
19-17132935-C-T |
c.149G>A |
p.S50N |
Missense |
2/42 |
- |
1 |
19-17132939-T-A |
c.145A>T |
p.I49F |
Missense |
2/42 |
- |
1 |
19-17132940-G-A |
c.144C>T |
p.V48= |
Synonymous |
2/42 |
- |
2 |
19-17132940-G-C |
c.144C>G |
p.V48= |
Synonymous |
2/42 |
- |
1 |
19-17132940-G-T |
c.144C>A |
p.V48= |
Synonymous |
2/42 |
- |
1 |
19-17132942-C-T |
c.142G>A |
p.V48I |
Missense |
2/42 |
- |
2 |
19-17132945-C-G |
c.139G>C |
p.E47Q |
Missense |
2/42 |
- |
1 |
19-17132945-C-T |
c.139G>A |
p.E47K |
Missense |
2/42 |
- |
3 |
19-17132949-C-A |
c.135G>T |
p.V45= |
Synonymous |
2/42 |
- |
1 |
19-17132951-C-A |
c.133G>T |
p.V45L |
missense_variant |
2/42 |
- |
1 |
19-17132951-C-T |
c.133G>A |
p.V45M |
Missense |
2/42 |
- |
3 |
19-17132952-GC-CT |
c.131_132delinsAG |
p.G44E |
Missense |
2/42 |
- |
1 |
19-17132954-C-G |
c.130G>C |
p.G44R |
Missense |
2/42 |
- |
1 |
19-17132955-C-A |
c.129G>T |
p.A43= |
Synonymous |
2/42 |
- |
1 |
19-17132955-C-G |
c.129G>C |
p.A43= |
Synonymous |
2/42 |
- |
2 |
19-17132955-CGC-ACA |
c.127_129delinsTGT |
p.A43C |
Missense |
2/42 |
- |
1 |
19-17132955-CG-GT |
c.128_129delinsAC |
p.A43D |
Missense |
2/42 |
- |
1 |
19-17132955-C-T |
c.129G>A |
p.A43= |
Synonymous |
2/42 |
- |
1 |
19-17132956-G-A |
c.128C>T |
p.A43V |
Missense |
2/42 |
- |
1 |
19-17132956-G-T |
c.128C>A |
p.A43E |
Missense |
2/42 |
- |
2 |
19-17132957-C-T |
c.127G>A |
p.A43T |
Missense |
2/42 |
- |
1 |
19-17132958-G-A |
c.126C>T |
p.R42= |
Synonymous |
2/42 |
- |
2 |
19-17132958-G-C |
c.126C>G |
p.R42= |
Synonymous |
2/42 |
- |
1 |
19-17132958-G-T |
c.126C>A |
p.R42= |
Synonymous |
2/42 |
- |
2 |
19-17132959-C-T |
c.125G>A |
p.R42H |
Missense |
2/42 |
- |
5 |
19-17132960-G-A |
c.124C>T |
p.R42C |
Missense |
2/42 |
- |
7 |
19-17132964-AAC-CAT |
c.118_120delinsATG |
p.V40M |
Missense |
2/42 |
- |
1 |
19-17132964-A-C |
c.120T>G |
p.V40= |
Synonymous |
2/42 |
- |
1 |
19-17132964-A-G |
c.120T>C |
p.V40= |
Synonymous |
2/42 |
- |
1 |
19-17132964-A-T |
c.120T>A |
p.V40= |
Synonymous |
2/42 |
- |
1 |
19-17132971-G-A |
c.113C>T |
p.P38L |
Missense |
2/42 |
- |
5 |
19-17132975-C-A |
c.109G>T |
p.A37S |
Missense |
2/42 |
- |
1 |
19-17132982-C-A |
c.102G>T |
p.L34F |
Missense |
2/42 |
- |
1 |
19-17132982-C-G |
c.102G>C |
p.L34F |
Missense |
2/42 |
- |
1 |
19-17132982-C-T |
c.102G>A |
p.L34= |
Synonymous |
2/42 |
- |
2 |
19-17132986-T-A |
c.98A>T |
p.Y33F |
Missense |
2/42 |
- |
3 |
19-17132988-A-C |
c.96T>G |
p.G32= |
Synonymous |
2/42 |
- |
2 |
19-17132988-A-G |
c.96T>C |
p.G32= |
Synonymous |
2/42 |
- |
2 |
19-17132988-A-T |
c.96T>A |
p.G32= |
Synonymous |
2/42 |
- |
2 |
19-17132989-C-G |
c.95G>C |
p.G32A |
Missense |
2/42 |
- |
1 |
19-17132989-C-T |
c.95G>A |
p.G32D |
Missense |
2/42 |
- |
1 |
19-17133009-C-T |
c.93-18G>A |
- |
intron_variant |
- |
1/41 |
1 |
19-17133028-C-A |
c.93-37G>T |
- |
intron_variant |
- |
1/41 |
3 |
19-17133113-G-A |
c.93-122C>T |
- |
intron_variant |
- |
1/41 |
1 |
19-17133113-G-T |
c.93-122C>A |
- |
intron_variant |
- |
1/41 |
1 |
19-17137250-C-A |
c.92+111G>T |
- |
IntronicSNV |
- |
1/41 |
1 |
19-17137290-A-C |
c.92+71T>G |
- |
IntronicSNV |
- |
1/41 |
7 |
19-17137365-C-T |
c.88G>A |
p.A30T |
Missense |
1/42 |
- |
1 |
19-17137375-C-T |
c.78G>A |
p.A26= |
Synonymous |
1/42 |
- |
1 |
19-17137379-G-A |
c.74C>T |
p.A25V |
Missense |
1/42 |
- |
1 |
19-17137380-C-T |
c.73G>A |
p.A25T |
Missense |
1/42 |
- |
2 |
19-17137383-G-A |
c.70C>T |
p.R24C |
Missense |
1/42 |
- |
2 |
19-17137385-A-T |
c.68T>A |
p.V23E |
Missense |
1/42 |
- |
1 |
19-17137386-C-T |
c.67G>A |
p.V23M |
Missense |
1/42 |
- |
1 |
19-17137387-G-A |
c.66C>T |
p.G22= |
Synonymous |
1/42 |
- |
1 |
19-17137388-C-G |
c.65G>C |
p.G22A |
Missense |
1/42 |
- |
1 |
19-17137390-G-C |
c.63C>G |
p.D21E |
Missense |
1/42 |
- |
1 |
19-17137390-G-T |
c.63C>A |
p.D21E |
Missense |
1/42 |
- |
1 |
19-17137391-T-C |
c.62A>G |
p.D21G |
Missense |
1/42 |
- |
1 |
19-17137392-C-A |
c.61G>T |
p.D21Y |
Missense |
1/42 |
- |
1 |
19-17137393-CCG-ACA |
c.58_60delinsTGT |
p.R20C |
Missense |
1/42 |
- |
1 |
19-17137394-C-T |
c.59G>A |
p.R20Q |
Missense |
1/42 |
- |
1 |
19-17137395-G-A |
c.58C>T |
p.R20W |
Missense |
1/42 |
- |
1 |
19-17137397-G-T |
c.56C>A |
p.A19E |
Missense |
1/42 |
- |
1 |
19-17137400-G-A |
c.53C>T |
p.S18L |
Missense |
1/42 |
- |
2 |
19-17137412-A-G |
c.41T>C |
p.L14P |
Missense |
1/42 |
- |
1 |
19-17137415-AGGAGCG-A |
c.32_37del |
p.P11_L12del |
InFrameDeletion |
1/42 |
- |
1 |
19-17137421-G-A |
c.32C>T |
p.P11L |
Missense |
1/42 |
- |
1 |
19-17137422-G-A |
c.31C>T |
p.P11S |
Missense |
1/42 |
- |
1 |
19-17137430-G-C |
c.23C>G |
p.P8R |
Missense |
1/42 |
- |
1 |
19-17137431-G-A |
c.22C>T |
p.P8S |
Missense |
1/42 |
- |
1 |
19-17137432-C-A |
c.21G>T |
p.W7C |
Missense |
1/42 |
- |
1 |
19-17137432-C-G |
c.21G>C |
p.W7C |
Missense |
1/42 |
- |
1 |
19-17137435-GA-TT |
c.17_18delinsAA |
p.L6Q |
Missense |
1/42 |
- |
1 |
19-17137438-C-A |
c.15G>T |
p.L5= |
Synonymous |
1/42 |
- |
1 |
19-17137438-C-G |
c.15G>C |
p.L5= |
Synonymous |
1/42 |
- |
1 |
19-17137438-C-T |
c.15G>A |
p.L5= |
Synonymous |
1/42 |
- |
1 |
19-17137440-G-A |
c.13C>T |
p.L5= |
Synonymous |
1/42 |
- |
1 |
19-17137440-G-C |
c.13C>G |
p.L5V |
Missense |
1/42 |
- |
1 |
19-17137441-GG-CT |
c.11_12delinsAG |
p.A4E |
Missense |
1/42 |
- |
1 |
19-17137442-G-A |
c.11C>T |
p.A4V |
Missense |
1/42 |
- |
1 |
19-17137442-G-C |
c.11C>G |
p.A4G |
Missense |
1/42 |
- |
1 |
19-17137443-C-T |
c.10G>A |
p.A4T |
Missense |
1/42 |
- |
1 |
19-17137445-C-G |
c.8G>C |
p.G3A |
Missense |
1/42 |
- |
1 |
19-17137445-C-T |
c.8G>A |
p.G3D |
Missense |
1/42 |
- |
1 |
19-17137447-G-A |
c.6C>T |
p.S2= |
Synonymous |
1/42 |
- |
1 |
19-17137447-G-C |
c.6C>G |
p.S2R |
Missense |
1/42 |
- |
1 |
19-17137448-CT-AA |
c.4_5delinsTT |
p.S2F |
Missense |
1/42 |
- |
1 |
19-17137452-T-C |
c.1A>G |
p.M1? |
Missense |
1/42 |
- |
1 |
19-17137466-G-A |
c.128C>T |
p.A43V |
Missense |
2/42 |
- |
1 |
19-17137466-G-T |
c.128C>A |
p.A43E |
Missense |
2/42 |
- |
2 |
19-17137469-G-C |
c.-17C>G |
- |
Missense |
1/42 |
- |
1 |
19-17137488-G-A |
c.-36C>T |
- |
Missense |
1/42 |
- |
1 |
19-17137497-C-A |
c.-45G>T |
- |
Missense |
1/42 |
- |
1 |
19-17137500-G-A |
c.-48C>T |
- |
Missense |
1/42 |
- |
2 |
19-17137504-G-T |
c.-52C>A |
= |
Synonymous |
1/42 |
- |
1 |
19-17137520-C-T |
c.-68G>A |
- |
Missense |
1/42 |
- |
1 |
19-17137521-C-T |
c.-69G>A |
- |
Missense |
1/42 |
- |
1 |
19-17137526-G-T |
c.-74C>A |
- |
Missense |
1/42 |
- |
1 |
19-17137527-C-A |
c.-75G>T |
- |
Missense |
1/42 |
- |
1 |
19-17137581-C-A |
c.-129G>T |
- |
Missense |
1/42 |
- |
1 |
19-17137581-C-T |
c.-129G>A |
- |
Missense |
1/42 |
- |
2 |
19-17137587-G-A |
c.-135C>T |
- |
Missense |
1/42 |
- |
1 |
19-17137683-C-T |
c.-90G>A |
- |
IntergenicSNV |
1/42 |
- |
1 |