CDC42

CDC42 cell division cycle 42

Annotation transcript: NM_001791.4

566 unique variant annotations were identified in 707 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-22379231-C-G c.-55C>G - 5_prime_UTR_variant 1/6 - 1
1-22379314-C-T c.-51+79C>T - intron_variant - 1/5 1
1-22379360-G-A c.-51+125G>A - intron_variant - 1/5 1
1-22379375-G-T c.-51+140G>T - intron_variant - 1/5 1
1-22379528-C-G c.-51+293C>G - intron_variant - 1/5 1
1-22379757-T-G c.-51+522T>G - intron_variant - 1/5 1
1-22388025-C-G c.-51+8790C>G - intron_variant - 1/5 3
1-22388025-C-T c.-51+8790C>T - intron_variant - 1/5 3
1-22388297-G-A c.-51+9062G>A - intron_variant - 1/5 1
1-22388297-G-C c.-51+9062G>C - intron_variant - 1/5 1
1-22388297-G-T c.-51+9062G>T - intron_variant - 1/5 1
1-22388863-A-C c.-51+9628A>C - intron_variant - 1/5 2
1-22388863-A-T c.-51+9628A>T - intron_variant - 1/5 2
1-22388872-C-T c.-51+9637C>T - intron_variant - 1/5 1
1-22389327-G-C c.-51+10092G>C - intron_variant - 1/5 1
1-22389327-G-T c.-51+10092G>T - intron_variant - 1/5 1
1-22394625-A-G c.-50-10297A>G - IntronicSNV - 1/5 5
1-22403357-G-A c.-50-1565G>A - IntronicSNV - 1/5 7
1-22404979-C-T c.8C>T p.T3I Missense 2/6 - 2
1-22404982-T-G c.11T>G p.I4S Missense 2/6 - 1
1-22404983-T-C c.12T>C p.I4= Synonymous 2/6 - 1
1-22404990-GTT-ATG c.19_21delinsATG p.V7M Missense 2/6 - 1
1-22404999-G-C c.28G>C p.G10R Missense 2/6 - 1
1-22405001-C-T c.30C>T p.G10= Synonymous 2/6 - 2
1-22405002-G-A c.31G>A p.D11N Missense 2/6 - 3
1-22405002-G-T c.31G>T p.D11Y Missense 2/6 - 2
1-22405003-A-C c.32A>C p.D11A Missense 2/6 - 1
1-22405004-T-A c.33T>A p.D11E Missense 2/6 - 1
1-22405005-G-A c.34G>A p.G12S Missense 2/6 - 2
1-22405005-GG-AA c.34_35delinsAA p.G12N Missense 2/6 - 1
1-22405005-GG-AT c.34_35delinsAT p.G12I Missense 2/6 - 1
1-22405005-GG-CC c.34_35inv p.G12P Missense 2/6 - 1
1-22405005-GG-CT c.34_35delinsCT p.G12L Missense 2/6 - 1
1-22405005-GGT-AAG c.34_36delinsAAG p.G12K Missense 2/6 - 1
1-22405005-GGT-ATG c.34_36delinsATG p.G12M Missense 2/6 - 1
1-22405005-GGT-CAA c.34_36delinsCAA p.G12Q Missense 2/6 - 1
1-22405005-G-T c.34G>T p.G12C Missense 2/6 - 9
1-22405006-G-A c.35G>A p.G12D Missense 2/6 - 19
1-22405006-G-C c.35G>C p.G12A Missense 2/6 - 2
1-22405006-G-T c.35G>T p.G12V Missense 2/6 - 73
1-22405006-GT-AG c.35_36delinsAG p.G12E Missense 2/6 - 1
1-22405008-G-A c.37G>A p.A13T Missense 2/6 - 2
1-22405008-G-C c.37G>C p.A13P Missense 2/6 - 3
1-22405008-GC-AT c.37_38delinsAT p.A13I Missense 2/6 - 1
1-22405008-GC-CA c.37_38delinsCA p.A13H Missense 2/6 - 1
1-22405008-GC-CG c.37_38delinsCG p.A13R Missense 2/6 - 1
1-22405008-GC-CT c.37_38delinsCT p.A13L Missense 2/6 - 2
1-22405008-GC-TA c.37_38delinsTA p.A13Y Missense 2/6 - 1
1-22405008-GCT-AAG c.37_39delinsAAG p.A13K Missense 2/6 - 1
1-22405008-GCT-ATG c.37_39delinsATG p.A13M Missense 2/6 - 1
1-22405008-GCT-CAA c.37_39delinsCAA p.A13Q Missense 2/6 - 1
1-22405008-GC-TT c.37_38delinsTT p.A13F Missense 2/6 - 1
1-22405008-GCT-TAA c.37_39delinsTAA p.A13* Nonsense 2/6 - 1
1-22405008-GCT-TGG c.37_39delinsTGG p.A13W Missense 2/6 - 1
1-22405008-G-T c.37G>T p.A13S Missense 2/6 - 1
1-22405009-C-A c.38C>A p.A13D Missense 2/6 - 1
1-22405009-C-G c.38C>G p.A13G Missense 2/6 - 1
1-22405009-C-T c.38C>T p.A13V Missense 2/6 - 2
1-22405009-CT-AG c.38_39inv p.A13E Missense 2/6 - 1
1-22405011-G-A c.40G>A p.V14I Missense 2/6 - 1
1-22405012-T-C c.41T>C p.V14A Missense 2/6 - 1
1-22405014-G-C c.43G>C p.G15R Missense 2/6 - 1
1-22405015-G-C c.44G>C p.G15A Missense 2/6 - 4
1-22405015-G-T c.44G>T p.G15V Missense 2/6 - 1
1-22405017-AA-GC c.46_47delinsGC p.K16A Missense 2/6 - 2
1-22405018-AA-TG c.47_48delinsTG p.K16M Missense 2/6 - 1
1-22405018-A-G c.47A>G p.K16R Missense 2/6 - 2
1-22405019-A-C c.48A>C p.K16N Missense 2/6 - 3
1-22405019-A-T c.48A>T p.K16N Missense 2/6 - 3
1-22405020-AC-CT c.49_50delinsCT p.T17L Missense 2/6 - 1
1-22405020-A-G c.49A>G p.T17A Missense 2/6 - 1
1-22405021-CA-AC c.50_51delinsAC p.T17N Missense 2/6 - 46
1-22405022-A-C c.51A>C p.T17= Synonymous 2/6 - 1
1-22405022-A-G c.51A>G p.T17= Synonymous 2/6 - 1
1-22405022-A-T c.51A>T p.T17= Synonymous 2/6 - 1
1-22405023-TG-GC c.52_53delinsGC p.C18A Missense 2/6 - 1
1-22405029-C-T c.58C>T p.L20= Synonymous 2/6 - 1
1-22405030-T-A c.59T>A p.L20Q Missense 2/6 - 3
1-22405030-T-C c.59T>C p.L20P Missense 2/6 - 1
1-22405030-TG-AT c.59_60delinsAT p.L20H Missense 2/6 - 5
1-22405033-TA-GC c.62_63delinsGC p.I21S Missense 2/6 - 1
1-22405033-T-C c.62T>C p.I21T Missense 2/6 - 7
1-22405035-T-A c.64T>A p.S22T Missense 2/6 - 1
1-22405035-T-C c.64T>C p.S22P Missense 2/6 - 1
1-22405035-TC-AA c.64_65delinsAA p.S22N Missense 2/6 - 2
1-22405035-TC-AT c.64_65delinsAT p.S22I Missense 2/6 - 1
1-22405035-TC-CA c.64_65delinsCA p.S22H Missense 2/6 - 1
1-22405035-TCC-AAG c.64_66delinsAAG p.S22K Missense 2/6 - 1
1-22405035-TCC-ATG c.64_66delinsATG p.S22M Missense 2/6 - 1
1-22405035-TCC-CAA c.64_66delinsCAA p.S22Q Missense 2/6 - 1
1-22405035-TC-CG c.64_65delinsCG p.S22R Missense 2/6 - 1
1-22405035-TC-CT c.64_65delinsCT p.S22L Missense 2/6 - 1
1-22405035-TC-GG c.64_65delinsGG p.S22G Missense 2/6 - 1
1-22405035-TC-GT c.64_65delinsGT p.S22V Missense 2/6 - 1
1-22405035-T-G c.64T>G p.S22A Missense 2/6 - 1
1-22405036-C-A c.65C>A p.S22Y Missense 2/6 - 1
1-22405036-CC-AA c.65_66delinsAA p.S22* Nonsense 2/6 - 1
1-22405036-CC-GG c.65_66inv p.S22W Missense 2/6 - 1
1-22405036-C-T c.65C>T p.S22F Missense 2/6 - 1
1-22405039-A-G c.68A>G p.Y23C Missense 2/6 - 9
1-22405041-A-C c.70A>C p.T24P Missense 2/6 - 1
1-22405041-ACA-CAT c.70_72delinsCAT p.T24H Missense 2/6 - 2
1-22405041-ACA-GAC c.70_72delinsGAC p.T24D Missense 2/6 - 1
1-22405041-ACA-TAT c.70_72delinsTAT p.T24Y Missense 2/6 - 1
1-22405041-ACA-TGG c.70_72delinsTGG p.T24W Missense 2/6 - 1
1-22405041-ACA-TGT c.70_72inv p.T24C Missense 2/6 - 1
1-22405041-ACA-TTT c.70_72delinsTTT p.T24F Missense 2/6 - 1
1-22405041-AC-CA c.70_71delinsCA p.T24Q Missense 2/6 - 1
1-22405041-AC-CT c.70_71delinsCT p.T24L Missense 2/6 - 1
1-22405041-AC-GA c.70_71delinsGA p.T24E Missense 2/6 - 1
1-22405041-AC-GG c.70_71delinsGG p.T24G Missense 2/6 - 1
1-22405041-AC-GT c.70_71inv p.T24V Missense 2/6 - 1
1-22405041-A-G c.70A>G p.T24A Missense 2/6 - 2
1-22405041-A-T c.70A>T p.T24S Missense 2/6 - 1
1-22405042-C-A c.71C>A p.T24K Missense 2/6 - 1
1-22405042-CA-AC c.71_72delinsAC p.T24N Missense 2/6 - 1
1-22405042-CA-TG c.71_72inv p.T24M Missense 2/6 - 2
1-22405042-C-G c.71C>G p.T24R Missense 2/6 - 1
1-22405042-C-T c.71C>T p.T24I Missense 2/6 - 1
1-22405043-A-C c.72A>C p.T24= Synonymous 2/6 - 4
1-22405043-A-G c.72A>G p.T24= Synonymous 2/6 - 4
1-22405043-A-T c.72A>T p.T24= Synonymous 2/6 - 4
1-22405044-A-T c.73A>T p.T25S Missense 2/6 - 1
1-22405045-C-A c.74C>A p.T25K Missense 2/6 - 1
1-22405045-C-T c.74C>T p.T25I Missense 2/6 - 2
1-22405048-A-T c.77A>T p.N26I Missense 2/6 - 1
1-22405049-C-A c.78C>A p.N26K Missense 2/6 - 1
1-22405049-C-G c.78C>G p.N26K Missense 2/6 - 1
1-22405049-C-T c.78C>T p.N26= Synonymous 2/6 - 1
1-22405050-AAA-TGT c.79_81delinsTGT p.K27C Missense 2/6 - 1
1-22405051-AA-TG c.80_81delinsTG p.K27M Missense 2/6 - 1
1-22405051-A-C c.80A>C p.K27T Missense 2/6 - 1
1-22405053-T-C c.82T>C p.F28L Missense 2/6 - 21
1-22405055-T-A c.84T>A p.F28L Missense 2/6 - 21
1-22405055-T-G c.84T>G p.F28L Missense 2/6 - 21
1-22405054-T-A c.83T>A p.F28Y Missense 2/6 - 1
1-22405056-C-T c.85C>T p.P29S Missense 2/6 - 6
1-22405057-C-A c.86C>A p.P29Q Missense 2/6 - 1
1-22405057-C-T c.86C>T p.P29L Missense 2/6 - 4
1-22405060-C-T c.89C>T p.S30L Missense 2/6 - 7
1-22405061-G-A c.90G>A p.S30= Synonymous 2/6 - 2
1-22405061-G-C c.90G>C p.S30= Synonymous 2/6 - 2
1-22405061-G-T c.90G>T p.S30= Synonymous 2/6 - 2
1-22405062-G-C c.91G>C p.E31Q Missense 2/6 - 1
1-22405063-A-T c.92A>T p.E31V Missense 2/6 - 1
1-22405065-TAT-AAG c.94_96delinsAAG p.Y32K Missense 2/6 - 5
1-22405065-T-C c.94T>C p.Y32H Missense 2/6 - 4
1-22405066-A-T c.95A>T p.Y32F Missense 2/6 - 1
1-22405068-GTA-AAC c.97_99delinsAAC p.V33N Missense 2/6 - 1
1-22405069-T-C c.98T>C p.V33A Missense 2/6 - 2
1-22405072-C-A c.101C>A p.P34Q Missense 2/6 - 5
1-22405072-C-T c.101C>T p.P34L Missense 2/6 - 1
1-22405074-A-G c.103A>G p.T35A Missense 2/6 - 9
1-22405074-A-T c.103A>T p.T35S Missense 2/6 - 3
1-22405075-C-A c.104C>A p.T35N Missense 2/6 - 1
1-22405075-C-G c.104C>G p.T35S Missense 2/6 - 3
1-22405202-T-A c.105+126T>A - IntronicSNV - 2/5 2
1-22405379-CTT-C c.105+320_105+321del - IntronicDeletion - 2/5 1
1-22405398-G-A c.105+322G>A - IntronicSNV - 2/5 2
1-22405398-G-T c.105+322G>T - IntronicSNV - 2/5 1
1-22408106-G-A c.106-109G>A - IntronicSNV - 2/5 5
1-22408192-G-A c.106-23G>A - IntronicSNV - 2/5 1
1-22408192-G-T c.106-23G>T - IntronicSNV - 2/5 1
1-22408212-T-C c.106-3T>C - IntronicSNV - 2/5 2
1-22408215-G-A c.106G>A p.V36I Missense 3/6 - 1
1-22408215-G-C c.106G>C p.V36L Missense 3/6 - 1
1-22408215-G-T c.106G>T p.V36F Missense 3/6 - 2
1-22408215-GT-AC c.106_107inv p.V36T Missense 3/6 - 8
1-22408215-GT-AG c.106_107delinsAG p.V36S Missense 3/6 - 1
1-22408215-GT-CA c.106_107delinsCA p.V36H Missense 3/6 - 1
1-22408215-GT-CC c.106_107delinsCC p.V36P Missense 3/6 - 1
1-22408215-GT-CG c.106_107delinsCG p.V36R Missense 3/6 - 1
1-22408215-GT-TA c.106_107delinsTA p.V36Y Missense 3/6 - 1
1-22408215-GTT-AAG c.106_108delinsAAG p.V36K Missense 3/6 - 1
1-22408215-GTT-ATG c.106_108delinsATG p.V36M Missense 3/6 - 2
1-22408215-GTT-CAA c.106_108delinsCAA p.V36Q Missense 3/6 - 1
1-22408215-GT-TG c.106_107delinsTG p.V36C Missense 3/6 - 1
1-22408215-GTT-TGG c.106_108delinsTGG p.V36W Missense 3/6 - 1
1-22408216-T-C c.107T>C p.V36A Missense 3/6 - 7
1-22408216-T-G c.107T>G p.V36G Missense 3/6 - 7
1-22408216-TT-AG c.107_108delinsAG p.V36E Missense 3/6 - 1
1-22408217-T-A c.108T>A p.V36= Synonymous 3/6 - 1
1-22408217-T-C c.108T>C p.V36= Synonymous 3/6 - 1
1-22408217-T-G c.108T>G p.V36= Synonymous 3/6 - 1
1-22408218-T-A c.109T>A p.F37I Missense 3/6 - 1
1-22408218-TT-GC c.109_110delinsGC p.F37A Missense 3/6 - 4
1-22408219-T-A c.110T>A p.F37Y Missense 3/6 - 3
1-22408222-A-C c.113A>C p.D38A Missense 3/6 - 7
1-22408223-C-A c.114C>A p.D38E Missense 3/6 - 5
1-22408223-C-G c.114C>G p.D38E Missense 3/6 - 5
1-22408224-AA-GC c.115_116delinsGC p.N39A Missense 3/6 - 2
1-22408227-TA-GC c.118_119delinsGC p.Y40A Missense 3/6 - 1
1-22408227-TAT-AAG c.118_120delinsAAG p.Y40K Missense 3/6 - 4
1-22408228-A-G c.119A>G p.Y40C Missense 3/6 - 10
1-22408230-G-A c.121G>A p.A41T Missense 3/6 - 4
1-22408230-G-C c.121G>C p.A41P Missense 3/6 - 1
1-22408230-GCA-AAC c.121_123delinsAAC p.A41N Missense 3/6 - 1
1-22408230-GC-AG c.121_122delinsAG p.A41R Missense 3/6 - 2
1-22408230-GC-AT c.121_122delinsAT p.A41I Missense 3/6 - 1
1-22408230-GCA-TAT c.121_123delinsTAT p.A41Y Missense 3/6 - 1
1-22408230-GCA-TTT c.121_123delinsTTT p.A41F Missense 3/6 - 1
1-22408230-GC-CA c.121_122delinsCA p.A41Q Missense 3/6 - 1
1-22408230-GC-CT c.121_122delinsCT p.A41L Missense 3/6 - 1
1-22408230-G-T c.121G>T p.A41S Missense 3/6 - 1
1-22408231-C-G c.122C>G p.A41G Missense 3/6 - 1
1-22408232-A-C c.123A>C p.A41= Synonymous 3/6 - 2
1-22408232-A-G c.123A>G p.A41= Synonymous 3/6 - 2
1-22408232-A-T c.123A>T p.A41= Synonymous 3/6 - 3
1-22408233-G-A c.124G>A p.V42I Missense 3/6 - 1
1-22408234-T-C c.125T>C p.V42A Missense 3/6 - 1
1-22408237-CA-AC c.128_129delinsAC p.T43N Missense 3/6 - 1
1-22408237-C-T c.128C>T p.T43I Missense 3/6 - 1
1-22408238-A-C c.129A>C p.T43= Synonymous 3/6 - 1
1-22408238-A-G c.129A>G p.T43= Synonymous 3/6 - 1
1-22408238-A-T c.129A>T p.T43= Synonymous 3/6 - 1
1-22408239-G-A c.130G>A p.V44I Missense 3/6 - 1
1-22408240-T-C c.131T>C p.V44A Missense 3/6 - 3
1-22408242-AT-GA c.133_134delinsGA p.M45E Missense 3/6 - 1
1-22408243-T-C c.134T>C p.M45T Missense 3/6 - 3
1-22408245-AT-GC c.136_137delinsGC p.I46A Missense 3/6 - 1
1-22408246-T-C c.137T>C p.I46T Missense 3/6 - 1
1-22408247-T-G c.138T>G p.I46M Missense 3/6 - 3
1-22408251-G-A c.142G>A p.G48R Missense 3/6 - 1
1-22408251-G-C c.142G>C p.G48R Missense 3/6 - 1
1-22408251-GG-AA c.142_143delinsAA p.G48K Missense 3/6 - 1
1-22408251-GGA-AAC c.142_144delinsAAC p.G48N Missense 3/6 - 1
1-22408251-GGA-ATG c.142_144delinsATG p.G48M Missense 3/6 - 1
1-22408251-GG-AT c.142_143delinsAT p.G48I Missense 3/6 - 1
1-22408251-GG-CA c.142_143delinsCA p.G48Q Missense 3/6 - 1
1-22408251-GG-CC c.142_143inv p.G48P Missense 3/6 - 1
1-22408251-GG-CT c.142_143delinsCT p.G48L Missense 3/6 - 1
1-22408257-CCA-AAC c.148_150delinsAAC p.P50N Missense 3/6 - 1
1-22408256-AC-A c.149del p.P50Hfs*21 Frameshift 3/6 - 1
1-22408260-T-C c.151T>C p.Y51H Missense 3/6 - 3
1-22408264-C-A c.155C>A p.T52N Missense 3/6 - 1
1-22408265-T-A c.156T>A p.T52= Synonymous 3/6 - 1
1-22408265-T-C c.156T>C p.T52= Synonymous 3/6 - 1
1-22408265-T-G c.156T>G p.T52= Synonymous 3/6 - 1
1-22408269-G-T c.160G>T p.G54* Nonsense 3/6 - 1
1-22408270-G-A c.161G>A p.G54E Missense 3/6 - 1
1-22408271-A-C c.162A>C p.G54= Synonymous 3/6 - 1
1-22408271-A-G c.162A>G p.G54= Synonymous 3/6 - 1
1-22408271-A-T c.162A>T p.G54= Synonymous 3/6 - 1
1-22408272-C-T c.163C>T p.L55F Missense 3/6 - 2
1-22408276-TT-GG c.167_168delinsGG p.F56W Missense 3/6 - 2
1-22408278-G-A c.169G>A p.D57N Missense 3/6 - 3
1-22408278-G-T c.169G>T p.D57Y Missense 3/6 - 14
1-22408279-A-C c.170A>C p.D57A Missense 3/6 - 1
1-22408279-A-G c.170A>G p.D57G Missense 3/6 - 1
1-22408281-A-G c.172A>G p.T58A Missense 3/6 - 3
1-22408282-C-T c.173C>T p.T58I Missense 3/6 - 2
1-22408282-CT-TG c.173_174delinsTG p.T58M Missense 3/6 - 1
1-22408283-T-A c.174T>A p.T58= Synonymous 3/6 - 1
1-22408283-T-C c.174T>C p.T58= Synonymous 3/6 - 1
1-22408283-T-G c.174T>G p.T58= Synonymous 3/6 - 1
1-22408284-G-A c.175G>A p.A59T Missense 3/6 - 3
1-22408284-GC-AA c.175_176delinsAA p.A59K Missense 3/6 - 1
1-22408284-GC-AG c.175_176delinsAG p.A59R Missense 3/6 - 1
1-22408284-GC-AT c.175_176delinsAT p.A59I Missense 3/6 - 1
1-22408284-GCA-TAT c.175_177delinsTAT p.A59Y Missense 3/6 - 1
1-22408284-GC-CA c.175_176delinsCA p.A59Q Missense 3/6 - 1
1-22408284-GC-TA c.175_176delinsTA p.A59* Nonsense 3/6 - 1
1-22408285-C-G c.176C>G p.A59G Missense 3/6 - 1
1-22408285-C-T c.176C>T p.A59V Missense 3/6 - 2
1-22408286-A-C c.177A>C p.A59= Synonymous 3/6 - 1
1-22408286-A-G c.177A>G p.A59= Synonymous 3/6 - 1
1-22408286-A-T c.177A>T p.A59= Synonymous 3/6 - 1
1-22408288-G-A c.178+1G>A - IntronicSNV - 3/5 1
1-22408465-C-T c.178+178C>T - IntronicSNV - 3/5 4
1-22408527-A-G c.178+240A>G - IntronicSNV - 3/5 2
1-22408527-A-T c.178+240A>T - IntronicSNV - 3/5 2
1-22409094-T-A c.178+807T>A - IntronicSNV - 3/5 2
1-22409387-G-T c.178+1100G>T - IntronicSNV - 3/5 1
1-22411019-T-A c.179-1913T>A - IntronicSNV - 3/5 1
1-22411019-T-G c.179-1913T>G - IntronicSNV - 3/5 1
1-22412932-G-C c.179G>C p.G60A Missense 4/6 - 3
1-22412932-GG-AC c.179_180delinsAC p.G60D Missense 4/6 - 5
1-22412933-G-A c.180G>A p.G60= Synonymous 4/6 - 2
1-22412933-G-C c.180G>C p.G60= Synonymous 4/6 - 1
1-22412933-G-T c.180G>T p.G60= Synonymous 4/6 - 1
1-22412934-CA-GC c.181_182delinsGC p.Q61A Missense 4/6 - 1
1-22412935-A-G c.182A>G p.Q61R Missense 4/6 - 7
1-22412935-A-T c.182A>T p.Q61L Missense 4/6 - 91
1-22412938-A-C c.185A>C p.E62A Missense 4/6 - 1
1-22412939-G-C c.186G>C p.E62D Missense 4/6 - 2
1-22412939-G-T c.186G>T p.E62D Missense 4/6 - 2
1-22412940-G-A c.187G>A p.D63N Missense 4/6 - 1
1-22412940-G-C c.187G>C p.D63H Missense 4/6 - 1
1-22412941-A-T c.188A>T p.D63V Missense 4/6 - 3
1-22412944-A-G c.191A>G p.Y64C Missense 4/6 - 21
1-22412946-G-A c.193G>A p.D65N Missense 4/6 - 1
1-22412947-A-C c.194A>C p.D65A Missense 4/6 - 1
1-22412947-A-G c.194A>G p.D65G Missense 4/6 - 3
1-22412947-A-T c.194A>T p.D65V Missense 4/6 - 6
1-22412949-A-G c.196A>G p.R66G Missense 4/6 - 14
1-22412949-AG-GA c.196_197delinsGA p.R66E Missense 4/6 - 7
1-22412949-AG-GC c.196_197delinsGC p.R66A Missense 4/6 - 4
1-22412950-G-A c.197G>A p.R66K Missense 4/6 - 3
1-22412949-A-C c.196A>C p.R66= Synonymous 4/6 - 1
1-22412951-A-G c.198A>G p.R66= Synonymous 4/6 - 1
1-22412955-C-A c.202C>A p.R68= Synonymous 4/6 - 1
1-22412955-CGA-AGC c.202_204delinsAGC p.R68S Missense 4/6 - 1
1-22412955-CG-GA c.202_203delinsGA p.R68E Missense 4/6 - 2
1-22412955-CG-GC c.202_203delinsGC p.R68A Missense 4/6 - 1
1-22412955-C-T c.202C>T p.R68* Nonsense 4/6 - 3
1-22412956-G-A c.203G>A p.R68Q Missense 4/6 - 4
1-22412956-G-C c.203G>C p.R68P Missense 4/6 - 2
1-22412958-C-A c.205C>A p.P69T Missense 4/6 - 1
1-22412959-C-T c.206C>T p.P69L Missense 4/6 - 2
1-22412962-T-C c.209T>C p.L70P Missense 4/6 - 1
1-22412963-G-A c.210G>A p.L70= Synonymous 4/6 - 1
1-22412964-AG-CC c.211_212delinsCC p.S71P Missense 4/6 - 3
1-22412964-AG-CT c.211_212inv p.S71L Missense 4/6 - 1
1-22412965-G-C c.212G>C p.S71T Missense 4/6 - 2
1-22412965-G-T c.212G>T p.S71I Missense 4/6 - 1
1-22412970-C-G c.217C>G p.P73A Missense 4/6 - 1
1-22412970-C-T c.217C>T p.P73S Missense 4/6 - 1
1-22412971-C-T c.218C>T p.P73L Missense 4/6 - 3
1-22412973-CAA-GAC c.220_222delinsGAC p.Q74D Missense 4/6 - 1
1-22412973-C-G c.220C>G p.Q74E Missense 4/6 - 1
1-22412974-A-G c.221A>G p.Q74R Missense 4/6 - 1
1-22412974-A-T c.221A>T p.Q74L Missense 4/6 - 2
1-22412977-C-T c.224C>T p.T75I Missense 4/6 - 1
1-22412980-A-C c.227A>C p.D76A Missense 4/6 - 4
1-22412980-A-T c.227A>T p.D76V Missense 4/6 - 1
1-22412981-T-A c.228T>A p.D76E Missense 4/6 - 1
1-22412981-T-G c.228T>G p.D76E Missense 4/6 - 1
1-22412983-T-C c.230T>C p.V77A Missense 4/6 - 1
1-22412988-C-G c.235C>G p.L79V Missense 4/6 - 1
1-22412991-G-T c.238G>T p.V80F Missense 4/6 - 1
1-22412993-C-T c.240C>T p.V80= Synonymous 4/6 - 1
1-22412995-G-A c.242G>A p.C81Y Missense 4/6 - 3
1-22412995-G-T c.242G>T p.C81F Missense 4/6 - 4
1-22412997-T-A c.244T>A p.F82I Missense 4/6 - 1
1-22413000-T-C c.247T>C p.S83P Missense 4/6 - 6
1-22413001-CA-AT c.248_249delinsAT p.S83Y Missense 4/6 - 1
1-22413001-CA-TT c.248_249delinsTT p.S83F Missense 4/6 - 1
1-22413001-C-T c.248C>T p.S83L Missense 4/6 - 4
1-22413004-T-C c.251T>C p.V84A Missense 4/6 - 2
1-22413007-T-A c.254T>A p.V85D Missense 4/6 - 1
1-22413007-T-C c.254T>C p.V85A Missense 4/6 - 1
1-22413012-C-G c.259C>G p.P87A Missense 4/6 - 1
1-22413012-C-T c.259C>T p.P87S Missense 4/6 - 2
1-22413014-A-C c.261A>C p.P87= Synonymous 4/6 - 1
1-22413014-A-G c.261A>G p.P87= Synonymous 4/6 - 1
1-22413014-A-T c.261A>T p.P87= Synonymous 4/6 - 1
1-22413016-C-T c.263C>T p.S88F Missense 4/6 - 1
1-22413020-A-C c.267A>C p.S89= Synonymous 4/6 - 1
1-22413020-A-G c.267A>G p.S89= Synonymous 4/6 - 1
1-22413020-A-T c.267A>T p.S89= Synonymous 4/6 - 1
1-22413021-TT-GG c.268_269delinsGG p.F90G Missense 4/6 - 1
1-22413022-T-C c.269T>C p.F90S Missense 4/6 - 1
1-22413024-G-A c.271G>A p.E91K Missense 4/6 - 1
1-22413024-G-C c.271G>C p.E91Q Missense 4/6 - 1
1-22413025-A-C c.272A>C p.E91A Missense 4/6 - 1
1-22413027-A-G c.274A>G p.N92D Missense 4/6 - 1
1-22413028-A-T c.275A>T p.N92I Missense 4/6 - 2
1-22413029-C-T c.276C>T p.N92= Synonymous 4/6 - 2
1-22413030-GTG-ATC c.277_279delinsATC p.V93I Missense 4/6 - 1
1-22413033-AA-CC c.280_281delinsCC p.K94P Missense 4/6 - 1
1-22413033-A-G c.280A>G p.K94E Missense 4/6 - 3
1-22413035-A-C c.282A>C p.K94N Missense 4/6 - 1
1-22413035-A-T c.282A>T p.K94N Missense 4/6 - 1
1-22413036-G-A c.283G>A p.E95K Missense 4/6 - 3
1-22413036-G-C c.283G>C p.E95Q Missense 4/6 - 3
1-22413037-A-C c.284A>C p.E95A Missense 4/6 - 1
1-22413041-G-A c.288G>A p.K96= Synonymous 4/6 - 1
1-22413162-T-A c.289T>A p.W97R Missense 5/6 - 4
1-22413162-T-C c.289T>C p.W97R Missense 5/6 - 3
1-22413162-TG-GC c.289_290delinsGC p.W97A Missense 5/6 - 1
1-22413163-GG-TT c.290_291delinsTT p.W97F Missense 5/6 - 1
1-22413164-G-T c.291G>T p.W97C Missense 5/6 - 1
1-22413169-C-A c.296C>A p.P99H Missense 5/6 - 1
1-22413170-T-A c.297T>A p.P99= Synonymous 5/6 - 1
1-22413171-G-A c.298G>A p.E100K Missense 5/6 - 1
1-22413172-A-C c.299A>C p.E100A Missense 5/6 - 3
1-22413172-A-G c.299A>G p.E100G Missense 5/6 - 4
1-22413176-A-G c.303A>G p.I101M Missense 5/6 - 1
1-22413178-C-T c.305C>T p.T102I Missense 5/6 - 1
1-22413180-CA-GC c.307_308delinsGC p.H103A Missense 5/6 - 1
1-22413183-CA-GC c.310_311delinsGC p.H104A Missense 5/6 - 2
1-22413183-C-T c.310C>T p.H104Y Missense 5/6 - 5
1-22413191-A-T c.318A>T p.P106= Synonymous 5/6 - 1
1-22413193-A-C c.320A>C p.K107T Missense 5/6 - 1
1-22413194-G-A c.321G>A p.K107= Synonymous 5/6 - 1
1-22413208-T-G c.335T>G p.L112R Missense 5/6 - 1
1-22413209-T-A c.336T>A p.L112= Synonymous 5/6 - 1
1-22413209-T-C c.336T>C p.L112= Synonymous 5/6 - 1
1-22413209-T-G c.336T>G p.L112= Synonymous 5/6 - 1
1-22413216-A-G c.343A>G p.T115A Missense 5/6 - 1
1-22413219-C-G c.346C>G p.Q116E Missense 5/6 - 3
1-22413220-A-C c.347A>C p.Q116P Missense 5/6 - 1
1-22413221-A-G c.348A>G p.Q116= Synonymous 5/6 - 1
1-22413222-A-G c.349A>G p.I117V Missense 5/6 - 1
1-22413225-G-A c.352G>A p.D118N Missense 5/6 - 1
1-22413226-A-C c.353A>C p.D118A Missense 5/6 - 15
1-22413226-A-G c.353A>G p.D118G Missense 5/6 - 1
1-22413230-C-A c.357C>A p.L119= Synonymous 5/6 - 2
1-22413230-C-G c.357C>G p.L119= Synonymous 5/6 - 3
1-22413230-C-T c.357C>T p.L119= Synonymous 5/6 - 2
1-22413231-A-G c.358A>G p.R120G Missense 5/6 - 2
1-22413231-AG-GC c.358_359delinsGC p.R120A Missense 5/6 - 1
1-22413232-G-A c.359G>A p.R120K Missense 5/6 - 1
1-22413234-G-A c.361G>A p.D121N Missense 5/6 - 1
1-22413235-A-C c.362A>C p.D121A Missense 5/6 - 2
1-22413237-G-A c.364G>A p.D122N Missense 5/6 - 4
1-22413238-A-C c.365A>C p.D122A Missense 5/6 - 3
1-22413240-C-T c.367C>T p.P123S Missense 5/6 - 3
1-22413243-TC-GA c.370_371inv p.S124D Missense 5/6 - 1
1-22413244-C-T c.371C>T p.S124F Missense 5/6 - 1
1-22413246-A-G c.373A>G p.T125A Missense 5/6 - 1
1-22413249-AT-GC c.376_377delinsGC p.I126A Missense 5/6 - 1
1-22413253-A-C c.380A>C p.E127A Missense 5/6 - 2
1-22413254-G-C c.381G>C p.E127D Missense 5/6 - 2
1-22413254-G-T c.381G>T p.E127D Missense 5/6 - 2
1-22413256-A-G c.383A>G p.K128R Missense 5/6 - 1
1-22413257-A-G c.384A>G p.K128= Synonymous 5/6 - 1
1-22413259-T-C c.386T>C p.L129P Missense 5/6 - 1
1-22413259-T-G c.386T>G p.L129R Missense 5/6 - 1
1-22413261-GCC-AAG c.388_390delinsAAG p.A130K Missense 5/6 - 1
1-22413264-A-G c.391A>G p.K131E Missense 5/6 - 2
1-22413265-A-G c.392A>G p.K131R Missense 5/6 - 1
1-22413269-C-T c.396C>T p.N132= Synonymous 5/6 - 1
1-22413273-C-T c.400C>T p.Q134* Nonsense 5/6 - 3
1-22413276-AA-GC c.403_404delinsGC p.K135A Missense 5/6 - 1
1-22413276-A-C c.403A>C p.K135Q Missense 5/6 - 1
1-22413276-A-G c.403A>G p.K135E Missense 5/6 - 1
1-22413278-G-A c.405G>A p.K135= Synonymous 5/6 - 1
1-22413279-C-T c.406C>T p.P136S Missense 5/6 - 4
1-22413280-C-T c.407C>T p.P136L Missense 5/6 - 2
1-22413282-A-G c.409A>G p.I137V Missense 5/6 - 1
1-22413287-T-A c.414T>A p.T138= Synonymous 5/6 - 1
1-22413287-T-C c.414T>C p.T138= Synonymous 5/6 - 1
1-22413287-T-G c.414T>G p.T138= Synonymous 5/6 - 1
1-22413289-C-T c.416C>T p.P139L Missense 5/6 - 1
1-22413291-G-A c.418G>A p.E140K Missense 5/6 - 1
1-22413291-G-C c.418G>C p.E140Q Missense 5/6 - 1
1-22413292-A-C c.419A>C p.E140A Missense 5/6 - 1
1-22413295-C-A c.422C>A p.T141N Missense 5/6 - 1
1-22413300-G-A c.427G>A p.E143K Missense 5/6 - 1
1-22413305-G-A c.432G>A p.K144= Synonymous 5/6 - 1
1-22413309-G-A c.436G>A p.A146T Missense 5/6 - 1
1-22413312-C-A c.439C>A p.R147S Missense 5/6 - 4
1-22413312-CG-GC c.439_440delinsGC p.R147A Missense 5/6 - 1
1-22413313-G-T c.440G>T p.R147L Missense 5/6 - 2
1-22413315-G-A c.442G>A p.D148N Missense 5/6 - 3
1-22413321-AA-GC c.448_449delinsGC p.K150A Missense 5/6 - 1
1-22413321-A-G c.448A>G p.K150E Missense 5/6 - 1
1-22413323-G-C c.450G>C p.K150N Missense 5/6 - 2
1-22413323-G-T c.450G>T p.K150N Missense 5/6 - 2
1-22413324-G-A c.451G>A p.A151T Missense 5/6 - 2
1-22413328-T-C c.455T>C p.V152A Missense 5/6 - 1
1-22413329-C-A c.456C>A p.V152= Synonymous 5/6 - 1
1-22413329-C-G c.456C>G p.V152= Synonymous 5/6 - 2
1-22413329-C-T c.456C>T p.V152= Synonymous 5/6 - 1
1-22413330-AA-GC c.457_458delinsGC p.K153A Missense 5/6 - 1
1-22413330-A-G c.457A>G p.K153E Missense 5/6 - 1
1-22413332-G-A c.459G>A p.K153= Synonymous 5/6 - 1
1-22413332-G-C c.459G>C p.K153N Missense 5/6 - 1
1-22413332-G-T c.459G>T p.K153N Missense 5/6 - 1
1-22413335-T-C c.462T>C p.Y154= Synonymous 5/6 - 2
1-22413339-G-A c.466G>A p.E156K Missense 5/6 - 1
1-22413341-G-A c.468G>A p.E156= Synonymous 5/6 - 3
1-22413342-T-C c.469T>C p.C157R Missense 5/6 - 1
1-22413345-T-A c.472T>A p.S158T Missense 5/6 - 3
1-22413349-C-T c.476C>T p.A159V Missense 5/6 - 4
1-22413351-CT-AG c.478_479inv p.L160S Missense 5/6 - 1
1-22413352-T-C c.479T>C p.L160P Missense 5/6 - 1
1-22413355-C-G c.482C>G p.T161R Missense 5/6 - 1
1-22413357-C-T c.484C>T p.Q162* Nonsense 5/6 - 1
1-22413359-G-A c.486G>A p.Q162= Synonymous 5/6 - 1
1-22413360-G-A c.486+1G>A - IntronicSNV - 5/5 1
1-22413432-T-C c.486+73T>C - IntronicSNV - 5/5 1
1-22414070-C-T c.486+711C>T - IntronicSNV - 5/5 1
1-22414478-G-A c.486+1119G>A - IntronicSNV - 5/5 1
1-22414785-G-A c.486+1426G>A - IntronicSNV - 5/5 1
1-22414785-G-T c.486+1426G>T - IntronicSNV - 5/5 1
1-22415410-A-T c.486+2051A>T - IntronicSNV - 5/5 7
1-22415586-C-G c.486+2227C>G - IntronicSNV - 5/5 1
1-22416452-T-A c.487-1469T>A - IntronicSNV - 5/5 1
1-22416483-G-A c.487-1438G>A - IntronicSNV - 5/5 1
1-22416483-G-C c.487-1438G>C - IntronicSNV - 5/5 1
1-22416493-A-G c.487-1428A>G - IntronicSNV - 5/5 1
1-22416584-G-A c.487-1337G>A - IntronicSNV - 5/5 1
1-22416584-G-C c.487-1337G>C - IntronicSNV - 5/5 1
1-22417418-G-A c.487-503G>A - IntronicSNV - 5/5 1
1-22417922-A-C c.488A>C p.K163T Missense 6/6 - 1
1-22417923-A-C c.489A>C p.K163N Missense 6/6 - 1
1-22417923-A-G c.489A>G p.K163= Synonymous 6/6 - 1
1-22417923-A-T c.489A>T p.K163N Missense 6/6 - 2
1-22417927-C-T c.493C>T p.L165= Synonymous 6/6 - 1
1-22417928-T-C c.494T>C p.L165P Missense 6/6 - 1
1-22417930-AA-GC c.496_497delinsGC p.K166A Missense 6/6 - 1
1-22417930-A-G c.496A>G p.K166E Missense 6/6 - 1
1-22417932-G-C c.498G>C p.K166N Missense 6/6 - 2
1-22417932-G-T c.498G>T p.K166N Missense 6/6 - 5
1-22417937-T-A c.503T>A p.V168E Missense 6/6 - 1
1-22417938-A-G c.504A>G p.V168= Synonymous 6/6 - 1
1-22417939-TT-GC c.505_506delinsGC p.F169A Missense 6/6 - 1
1-22417942-G-A c.508G>A p.D170N Missense 6/6 - 1
1-22417942-G-T c.508G>T p.D170Y Missense 6/6 - 1
1-22417943-A-C c.509A>C p.D170A Missense 6/6 - 2
1-22417944-C-T c.510C>T p.D170= Synonymous 6/6 - 2
1-22417945-G-A c.511G>A p.E171K Missense 6/6 - 9
1-22417945-GA-AG c.511_512delinsAG p.E171R Missense 6/6 - 1
1-22417946-A-C c.512A>C p.E171A Missense 6/6 - 1
1-22417947-A-C c.513A>C p.E171D Missense 6/6 - 1
1-22417954-TT-AG c.520_521delinsAG p.L174R Missense 6/6 - 1
1-22417954-TT-GC c.520_521delinsGC p.L174A Missense 6/6 - 1
1-22417961-C-T c.527C>T p.A176V Missense 6/6 - 1
1-22417963-CT-GA c.529_530delinsGA p.L177E Missense 6/6 - 1
1-22417963-CT-GC c.529_530delinsGC p.L177A Missense 6/6 - 1
1-22417964-T-C c.530T>C p.L177P Missense 6/6 - 1
1-22417966-GA-AG c.532_533delinsAG p.E178R Missense 6/6 - 1
1-22417967-A-C c.533A>C p.E178A Missense 6/6 - 1
1-22417968-G-C c.534G>C p.E178D Missense 6/6 - 1
1-22417968-G-T c.534G>T p.E178D Missense 6/6 - 1
1-22417969-C-A c.535C>A p.P179T Missense 6/6 - 1
1-22417970-C-G c.536C>G p.P179R Missense 6/6 - 1
1-22417970-C-T c.536C>T p.P179L Missense 6/6 - 3
1-22417972-C-T c.538C>T p.P180S Missense 6/6 - 1
1-22417973-C-T c.539C>T p.P180L Missense 6/6 - 1
1-22417975-G-A c.541G>A p.E181K Missense 6/6 - 1
1-22417979-C-A c.545C>A p.P182Q Missense 6/6 - 1
1-22417979-C-T c.545C>T p.P182L Missense 6/6 - 1
1-22417980-G-A c.546G>A p.P182= Synonymous 6/6 - 3
1-22417980-G-C c.546G>C p.P182= Synonymous 6/6 - 2
1-22417980-G-T c.546G>T p.P182= Synonymous 6/6 - 2
1-22417981-AA-GC c.547_548delinsGC p.K183A Missense 6/6 - 2
1-22417984-AA-GC c.550_551delinsGC p.K184A Missense 6/6 - 1
1-22417986-G-C c.552G>C p.K184N Missense 6/6 - 1
1-22417986-G-T c.552G>T p.K184N Missense 6/6 - 1
1-22417987-AG-CT c.553_554inv p.S185L Missense 6/6 - 1
1-22417987-AG-GA c.553_554delinsGA p.S185D Missense 6/6 - 2
1-22417987-AG-GC c.553_554delinsGC p.S185A Missense 6/6 - 1
1-22417987-A-T c.553A>T p.S185C Missense 6/6 - 2
1-22417988-GC-AG c.554_555delinsAG p.S185K Missense 6/6 - 1
1-22417990-CGC-AAG c.556_558delinsAAG p.R186K Missense 6/6 - 1
1-22417990-CG-GC c.556_557delinsGC p.R186A Missense 6/6 - 1
1-22417990-C-T c.556C>T p.R186C Missense 6/6 - 16
1-22417991-G-A c.557G>A p.R186H Missense 6/6 - 4
1-22417992-C-A c.558C>A p.R186= Synonymous 6/6 - 2
1-22417992-C-G c.558C>G p.R186= Synonymous 6/6 - 2
1-22417992-C-T c.558C>T p.R186= Synonymous 6/6 - 2
1-22417993-AGG-TGT c.559_561delinsTGT p.R187C Missense 6/6 - 1
1-22417994-G-T c.560G>T p.R187M Missense 6/6 - 1
1-22417996-T-A c.562T>A p.C188S Missense 6/6 - 21
1-22417996-TG-GC c.562_563delinsGC p.C188A Missense 6/6 - 3
1-22417997-G-C c.563G>C p.C188S Missense 6/6 - 21
1-22417997-G-A c.563G>A p.C188Y Missense 6/6 - 6
1-22417998-T-G c.564T>G p.C188W Missense 6/6 - 1
1-22418000-T-G c.566T>G p.V189G Missense 6/6 - 1
1-22418001-G-T c.567G>T p.V189= Synonymous 6/6 - 1
1-22418007-A-G c.573A>G p.L191= Synonymous 6/6 - 1
1-22418046-C-T c.*36C>T - 3-UTRSNV 6/6 - 1
1-22418284-G-GT c.*275dup - 3-UTRInsertion 6/6 - 1
1-22418284-G-GTT c.*275_*276insTT - 3-UTRInsertion 6/6 - 1
1-22418284-G-GTTT c.*275_*276insTTT - 3-UTRInsertion 6/6 - 1
1-22418284-G-GTTTT c.*275_*276insTTTT - 3-UTRInsertion 6/6 - 1
1-22418284-G-GTTTTT c.*275_*276insTTTTT - 3-UTRInsertion 6/6 - 1
1-22418284-G-GTTTTTT c.*275_*276insTTTTTT - 3-UTRInsertion 6/6 - 1
1-22418284-G-GTTTTTTTT c.*275_*276insTTTTTTTT - 3-UTRInsertion 6/6 - 1
1-22418286-G-T c.*276G>T - 3-UTRSNV 6/6 - 2
1-22421113-C-T c.*3103C>T - IntergenicSNV 6/6 - 2
1-22422721-G-A c.*4711G>A - IntergenicSNV 6/6 - 9
1-22425642-C-T c.*7632C>T - IntergenicSNV 6/6 - 2