PLK4

PLK4 polo like kinase 4

Annotation transcript: NM_014264.5

1066 unique variant annotations were identified in 487 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
4-128802275-C-T	c.-15C>T	-	5-UTRSNV	1/16	-	1
4-128802294-C-A	c.5C>A	p.A2E	Missense	1/16	-	1
4-128802294-C-T	c.5C>T	p.A2V	Missense	1/16	-	1
4-128802301-C-T	c.12C>T	p.C4=	Synonymous	1/16	-	1
4-128802306-G-A	c.17G>A	p.G6E	Missense	1/16	-	9
4-128802315-T-C	c.26T>C	p.I9T	Missense	1/16	-	1
4-128802317-GAG-TTT	c.28_30delinsTTT	p.E10F	Missense	1/16	-	1
4-128802317-G-C	c.28G>C	p.E10Q	Missense	1/16	-	1
4-128802342-A-C	c.30+23A>C	-	IntronicSNV	-	1/15	1
4-128802342-A-T	c.30+23A>T	-	IntronicSNV	-	1/15	1
4-128802345-G-A	c.30+26G>A	-	IntronicSNV	-	1/15	1
4-128802395-G-A	c.30+76G>A	-	IntronicSNV	-	1/15	1
4-128802395-G-C	c.30+76G>C	-	IntronicSNV	-	1/15	1
4-128802681-G-A	c.31-305G>A	-	IntronicSNV	-	1/15	1
4-128802681-G-C	c.31-305G>C	-	IntronicSNV	-	1/15	1
4-128802986-GA-CC	c.31_32delinsCC	p.D11P	Missense	2/16	-	1
4-128802989-TTT-AAG	c.34_36delinsAAG	p.F12K	Missense	2/16	-	3
4-128802990-T-G	c.35T>G	p.F12C	Missense	2/16	-	2
4-128802992-A-G	c.37A>G	p.K13E	Missense	2/16	-	1
4-128802993-A-G	c.38A>G	p.K13R	Missense	2/16	-	1
4-128803001-A-G	c.46A>G	p.N16D	Missense	2/16	-	1
4-128803003-T-A	c.48T>A	p.N16K	Missense	2/16	-	1
4-128803004-C-A	c.49C>A	p.L17M	Missense	2/16	-	3
4-128803004-CT-GA	c.49_50delinsGA	p.L17E	Missense	2/16	-	1
4-128803004-CTG-TTT	c.49_51delinsTTT	p.L17F	Missense	2/16	-	1
4-128803007-C-T	c.52C>T	p.L18F	Missense	2/16	-	1
4-128803009-T-A	c.54T>A	p.L18=	Synonymous	2/16	-	1
4-128803019-T-G	c.64T>G	p.S22A	Missense	2/16	-	1
4-128803020-C-T	c.65C>T	p.S22L	Missense	2/16	-	1
4-128803023-T-A	c.68T>A	p.F23Y	Missense	2/16	-	1
4-128803024-T-C	c.69T>C	p.F23=	Synonymous	2/16	-	1
4-128803026-C-T	c.71C>T	p.A24V	Missense	2/16	-	1
4-128803029-G-A	c.74G>A	p.G25D	Missense	2/16	-	1
4-128803029-GT-AG	c.74_75delinsAG	p.G25E	Missense	2/16	-	1
4-128803035-A-G	c.80A>G	p.Y27C	Missense	2/16	-	1
4-128803037-AG-GC	c.82_83delinsGC	p.R28A	Missense	2/16	-	1
4-128803039-A-T	c.84A>T	p.R28S	Missense	2/16	-	1
4-128803040-G-C	c.85G>C	p.A29P	Missense	2/16	-	1
4-128803040-GC-AT	c.85_86delinsAT	p.A29I	Missense	2/16	-	1
4-128803040-GCT-ATG	c.85_87delinsATG	p.A29M	Missense	2/16	-	2
4-128803040-GCT-TAA	c.85_87delinsTAA	p.A29*	Nonsense	2/16	-	2
4-128803041-C-A	c.86C>A	p.A29D	Missense	2/16	-	3
4-128803041-C-G	c.86C>G	p.A29G	Missense	2/16	-	2
4-128803046-T-G	c.91T>G	p.S31A	Missense	2/16	-	1
4-128803047-C-G	c.92C>G	p.S31C	Missense	2/16	-	1
4-128803052-CA-TG	c.97_98inv	p.H33C	Missense	2/16	-	1
4-128803055-A-C	c.100A>C	p.T34P	Missense	2/16	-	1
4-128803055-A-G	c.100A>G	p.T34A	Missense	2/16	-	1
4-128803055-A-T	c.100A>T	p.T34S	Missense	2/16	-	2
4-128803056-C-G	c.101C>G	p.T34S	Missense	2/16	-	1
4-128803056-C-T	c.101C>T	p.T34I	Missense	2/16	-	1
4-128803058-GG-CC	c.103_104inv	p.G35P	Missense	2/16	-	1
4-128803059-G-A	c.104G>A	p.G35D	Missense	2/16	-	1
4-128803064-G-A	c.109G>A	p.E37K	Missense	2/16	-	1
4-128803064-G-C	c.109G>C	p.E37Q	Missense	2/16	-	1
4-128803064-G-T	c.109G>T	p.E37*	Nonsense	2/16	-	3
4-128803067-GTT-ATG	c.112_114delinsATG	p.V38M	Missense	2/16	-	1
4-128803068-T-G	c.113T>G	p.V38G	Missense	2/16	-	1
4-128803070-G-A	c.115G>A	p.A39T	Missense	2/16	-	1
4-128803071-C-A	c.116C>A	p.A39E	Missense	2/16	-	1
4-128803071-C-T	c.116C>T	p.A39V	Missense	2/16	-	1
4-128803076-A-G	c.121A>G	p.K41E	Missense	2/16	-	1
4-128803077-AA-TG	c.122_123delinsTG	p.K41M	Missense	2/16	-	8
4-128803077-A-G	c.122A>G	p.K41R	Missense	2/16	-	1
4-128803079-A-G	c.124A>G	p.M42V	Missense	2/16	-	1
4-128803086-G-C	c.126+5G>C	-	IntronicSNV	-	2/15	1
4-128803120-A-G	c.126+39A>G	-	IntronicSNV	-	2/15	1
4-128803159-G-A	c.126+78G>A	-	IntronicSNV	-	2/15	8
4-128803407-C-G	c.126+326C>G	-	IntronicSNV	-	2/15	1
4-128803681-G-A	c.126+600G>A	-	IntronicSNV	-	2/15	1
4-128804417-A-G	c.127A>G	p.I43V	Missense	3/16	-	1
4-128804423-A-C	c.133A>C	p.K45Q	Missense	3/16	-	1
4-128804424-A-G	c.134A>G	p.K45R	Missense	3/16	-	1
4-128804425-G-C	c.135G>C	p.K45N	Missense	3/16	-	1
4-128804426-A-C	c.136A>C	p.K46Q	Missense	3/16	-	1
4-128804427-A-G	c.137A>G	p.K46R	Missense	3/16	-	1
4-128804429-G-A	c.139G>A	p.A47T	Missense	3/16	-	1
4-128804430-C-T	c.140C>T	p.A47V	Missense	3/16	-	1
4-128804440-A-T	c.150A>T	p.K50N	Missense	3/16	-	1
4-128804442-C-T	c.152C>T	p.A51V	Missense	3/16	-	1
4-128804444-GGA-AGC	c.154_156delinsAGC	p.G52S	Missense	3/16	-	1
4-128804445-G-T	c.155G>T	p.G52V	Missense	3/16	-	4
4-128804447-A-G	c.157A>G	p.M53V	Missense	3/16	-	1
4-128804450-G-A	c.160G>A	p.V54I	Missense	3/16	-	3
4-128804455-G-C	c.165G>C	p.Q55H	Missense	3/16	-	1
4-128804455-G-T	c.165G>T	p.Q55H	Missense	3/16	-	1
4-128804456-A-G	c.166A>G	p.R56G	Missense	3/16	-	1
4-128804453-CAG-C	c.168_169del	p.R56Sfs*4	Frameshift	3/16	-	1
4-128804459-GTC-ATG	c.169_171delinsATG	p.V57M	Missense	3/16	-	1
4-128804460-T-G	c.170T>G	p.V57G	Missense	3/16	-	1
4-128804461-C-T	c.171C>T	p.V57=	Synonymous	3/16	-	2
4-128804463-A-G	c.173A>G	p.Q58R	Missense	3/16	-	1
4-128804485-C-A	c.195C>A	p.C65*	Nonsense	3/16	-	1
4-128804489-T-C	c.199T>C	p.L67=	Synonymous	3/16	-	2
4-128804489-TT-AG	c.199_200delinsAG	p.L67R	Missense	3/16	-	1
4-128804491-G-A	c.201G>A	p.L67=	Synonymous	3/16	-	3
4-128804489-TTGAAACATCCTTC-T	c.201_213del	p.K68Sfs*18	Frameshift	3/16	-	2
4-128804496-A-G	c.206A>G	p.H69R	Missense	3/16	-	1
4-128804499-C-A	c.209C>A	p.P70H	Missense	3/16	-	1
4-128804502-C-T	c.212C>T	p.S71F	Missense	3/16	-	2
4-128804508-TG-T	c.220del	p.E74Sfs*16	Frameshift	3/16	-	1
4-128804511-A-C	c.221A>C	p.E74A	Missense	3/16	-	1
4-128804601-A-T	c.230A>T	p.N77I	Missense	4/16	-	1
4-128804612-G-C	c.241G>C	p.D81H	Missense	4/16	-	8
4-128804612-G-T	c.241G>T	p.D81Y	Missense	4/16	-	1
4-128804615-AG-GC	c.244_245delinsGC	p.S82A	Missense	4/16	-	1
4-128804620-T-A	c.249T>A	p.N83K	Missense	4/16	-	1
4-128804620-T-G	c.249T>G	p.N83K	Missense	4/16	-	1
4-128804622-A-T	c.251A>T	p.Y84F	Missense	4/16	-	1
4-128804628-A-G	c.257A>G	p.Y86C	Missense	4/16	-	1
4-128804636-TT-GC	c.265_266delinsGC	p.L89A	Missense	4/16	-	2
4-128804636-TT-GG	c.265_266delinsGG	p.L89G	Missense	4/16	-	4
4-128804637-T-C	c.266T>C	p.L89S	Missense	4/16	-	3
4-128804639-G-T	c.268G>T	p.E90*	Nonsense	4/16	-	1
4-128804640-A-C	c.269A>C	p.E90A	Missense	4/16	-	1
4-128804653-T-G	c.282T>G	p.N94K	Missense	4/16	-	1
4-128804654-G-A	c.283G>A	p.G95R	Missense	4/16	-	2
4-128804654-G-C	c.283G>C	p.G95R	Missense	4/16	-	2
4-128804654-GG-CT	c.283_284delinsCT	p.G95L	Missense	4/16	-	2
4-128804655-G-A	c.284G>A	p.G95E	Missense	4/16	-	1
4-128804660-A-G	c.289A>G	p.M97V	Missense	4/16	-	1
4-128804664-A-G	c.293A>G	p.N98S	Missense	4/16	-	1
4-128804666-AG-CA	c.295_296delinsCA	p.R99Q	Missense	4/16	-	1
4-128804666-AGG-CAT	c.295_297delinsCAT	p.R99H	Missense	4/16	-	1
4-128804667-GG-TC	c.296_297delinsTC	p.R99I	Missense	4/16	-	1
4-128804667-G-T	c.296G>T	p.R99M	Missense	4/16	-	1
4-128804673-T-C	c.302T>C	p.L101P	Missense	4/16	-	1
4-128804675-AA-GC	c.304_305delinsGC	p.K102A	Missense	4/16	-	1
4-128804677-G-C	c.306G>C	p.K102N	Missense	4/16	-	1
4-128804677-G-T	c.306G>T	p.K102N	Missense	4/16	-	1
4-128804679-A-G	c.308A>G	p.N103S	Missense	4/16	-	1
4-128804681-A-T	c.310A>T	p.R104*	Nonsense	4/16	-	1
4-128804691-C-T	c.320C>T	p.P107L	Missense	4/16	-	1
4-128804693-TT-GC	c.322_323delinsGC	p.F108A	Missense	4/16	-	1
4-128804916-T-C	c.337+208T>C	-	IntronicSNV	-	4/15	1
4-128805697-G-A	c.337+989G>A	-	IntronicSNV	-	4/15	1
4-128805697-G-T	c.337+989G>T	-	IntronicSNV	-	4/15	1
4-128805771-C-T	c.337+1063C>T	-	IntronicSNV	-	4/15	1
4-128806866-GA-AT	c.341_342delinsAT	p.R114H	Missense	5/16	-	1
4-128806869-A-G	c.344A>G	p.H115R	Missense	5/16	-	1
4-128806873-C-T	c.348C>T	p.F116=	Synonymous	5/16	-	1
4-128806874-A-C	c.349A>C	p.M117L	Missense	5/16	-	1
4-128806879-C-G	c.354C>G	p.H118Q	Missense	5/16	-	1
4-128806880-C-A	c.355C>A	p.Q119K	Missense	5/16	-	1
4-128806882-G-C	c.357G>C	p.Q119H	Missense	5/16	-	1
4-128806882-G-T	c.357G>T	p.Q119H	Missense	5/16	-	1
4-128806885-C-A	c.360C>A	p.I120=	Synonymous	5/16	-	1
4-128806885-C-T	c.360C>T	p.I120=	Synonymous	5/16	-	1
4-128806895-A-G	c.370A>G	p.M124V	Missense	5/16	-	1
4-128806897-G-A	c.372G>A	p.M124I	Missense	5/16	-	1
4-128806904-C-G	c.379C>G	p.L127V	Missense	5/16	-	1
4-128806910-TC-GA	c.385_386inv	p.S129D	Missense	5/16	-	2
4-128806910-TC-GG	c.385_386delinsGG	p.S129G	Missense	5/16	-	1
4-128806910-TCT-GAG	c.385_387delinsGAG	p.S129E	Missense	5/16	-	2
4-128806910-T-G	c.385T>G	p.S129A	Missense	5/16	-	4
4-128806917-G-T	c.392G>T	p.G131V	Missense	5/16	-	3
4-128806920-T-C	c.395T>C	p.I132T	Missense	5/16	-	1
4-128806921-A-G	c.396A>G	p.I132M	Missense	5/16	-	2
4-128806921-A-T	c.396A>T	p.I132=	Synonymous	5/16	-	1
4-128806929-G-A	c.404G>A	p.R135Q	Missense	5/16	-	1
4-128806937-A-C	c.412A>C	p.T138P	Missense	5/16	-	1
4-128806937-A-G	c.412A>G	p.T138A	Missense	5/16	-	2
4-128806943-T-G	c.418T>G	p.S140A	Missense	5/16	-	1
4-128806945-T-TA	c.422dup	p.N141Kfs*7	Frameshift	5/16	-	1
4-128806949-CTC-ATG	c.424_426delinsATG	p.L142M	Missense	5/16	-	1
4-128806949-CT-GC	c.424_425delinsGC	p.L142A	Missense	5/16	-	1
4-128806952-CTA-TGG	c.427_429delinsTGG	p.L143W	Missense	5/16	-	1
4-128806953-T-C	c.428T>C	p.L143P	Missense	5/16	-	3
4-128806958-A-T	c.433A>T	p.T145S	Missense	5/16	-	1
4-128806959-C-G	c.434C>G	p.T145S	Missense	5/16	-	1
4-128806961-CG-AT	c.436_437delinsAT	p.R146I	Missense	5/16	-	1
4-128806961-C-T	c.436C>T	p.R146C	Missense	5/16	-	4
4-128806962-G-A	c.437G>A	p.R146H	Missense	5/16	-	2
4-128806962-GT-AA	c.437_438delinsAA	p.R146Q	Missense	5/16	-	1
4-128806967-A-G	c.442A>G	p.M148V	Missense	5/16	-	4
4-128806974-T-C	c.449T>C	p.I150T	Missense	5/16	-	1
4-128806975-C-T	c.450C>T	p.I150=	Synonymous	5/16	-	1
4-128806976-A-C	c.451A>C	p.K151Q	Missense	5/16	-	1
4-128806978-G-C	c.453G>C	p.K151N	Missense	5/16	-	1
4-128806978-G-T	c.453G>T	p.K151N	Missense	5/16	-	1
4-128806980-T-C	c.455T>C	p.I152T	Missense	5/16	-	1
4-128806980-TT-AG	c.455_456delinsAG	p.I152K	Missense	5/16	-	1
4-128806981-T-G	c.456T>G	p.I152M	Missense	5/16	-	4
4-128806985-G-C	c.460G>C	p.D154H	Missense	5/16	-	1
4-128806986-A-C	c.461A>C	p.D154A	Missense	5/16	-	9
4-128806990-T-G	c.465T>G	p.F155L	Missense	5/16	-	1
4-128806992-GG-AC	c.467_468delinsAC	p.G156D	Missense	5/16	-	1
4-128807003-C-A	c.478C>A	p.Q160K	Missense	5/16	-	1
4-128807006-C-G	c.481C>G	p.L161V	Missense	5/16	-	1
4-128807010-A-G	c.485A>G	p.K162R	Missense	5/16	-	1
4-128807015-C-T	c.490C>T	p.P164S	Missense	5/16	-	1
4-128807015-CCA-C	c.493_494del	p.H165*	Frameshift	5/16	-	1
4-128807018-AC-A	c.493del	p.H165Mfs*56	Frameshift	5/16	-	1
4-128807020-T-C	c.495T>C	p.H165=	Synonymous	5/16	-	2
4-128807021-G-T	c.496G>T	p.E166*	Nonsense	5/16	-	1
4-128807024-A-G	c.499A>G	p.K167E	Missense	5/16	-	1
4-128807025-A-G	c.500A>G	p.K167R	Missense	5/16	-	1
4-128807033-ACA-GAC	c.508_510delinsGAC	p.T170D	Missense	5/16	-	1
4-128807033-A-G	c.508A>G	p.T170A	Missense	5/16	-	1
4-128807036-TT-CC	c.511_512delinsCC	p.L171P	Missense	5/16	-	1
4-128807040-G-T	c.515G>T	p.C172F	Missense	5/16	-	1
4-128807043-G-A	c.518G>A	p.G173E	Missense	5/16	-	1
4-128807054-TAC-GAG	c.529_531delinsGAG	p.Y177E	Missense	5/16	-	1
4-128807055-A-T	c.530A>T	p.Y177F	Missense	5/16	-	1
4-128807057-A-G	c.532A>G	p.I178V	Missense	5/16	-	1
4-128807060-TC-AT	c.535_536delinsAT	p.S179I	Missense	5/16	-	1
4-128807060-T-G	c.535T>G	p.S179A	Missense	5/16	-	1
4-128807064-C-G	c.539C>G	p.P180R	Missense	5/16	-	1
4-128807073-C-G	c.548C>G	p.A183G	Missense	5/16	-	2
4-128807079-G-A	c.554G>A	p.R185Q	Missense	5/16	-	4
4-128807084-G-A	c.559G>A	p.A187T	Missense	5/16	-	1
4-128807085-C-T	c.560C>T	p.A187V	Missense	5/16	-	1
4-128807087-C-T	c.562C>T	p.H188Y	Missense	5/16	-	1
4-128807094-T-C	c.569T>C	p.L190P	Missense	5/16	-	2
4-128807096-G-C	c.571G>C	p.E191Q	Missense	5/16	-	1
4-128807097-A-C	c.572A>C	p.E191A	Missense	5/16	-	2
4-128807099-T-A	c.574T>A	p.S192T	Missense	5/16	-	1
4-128807102-G-A	c.577G>A	p.D193N	Missense	5/16	-	1
4-128807105-G-A	c.580G>A	p.V194I	Missense	5/16	-	1
4-128807113-C-A	c.588C>A	p.S196=	Synonymous	5/16	-	2
4-128807113-C-G	c.588C>G	p.S196=	Synonymous	5/16	-	1
4-128807113-C-T	c.588C>T	p.S196=	Synonymous	5/16	-	1
4-128807117-GG-AA	c.592_593delinsAA	p.G198N	Missense	5/16	-	1
4-128807120-T-A	c.595T>A	p.C199S	Missense	5/16	-	3
4-128807121-G-C	c.596G>C	p.C199S	Missense	5/16	-	1
4-128807127-T-A	c.602T>A	p.F201Y	Missense	5/16	-	1
4-128807128-T-C	c.603T>C	p.F201=	Synonymous	5/16	-	1
4-128807131-T-C	c.606T>C	p.Y202=	Synonymous	5/16	-	1
4-128807137-A-G	c.612A>G	p.L204=	Synonymous	5/16	-	1
4-128807138-C-T	c.613C>T	p.L205F	Missense	5/16	-	1
4-128807142-T-C	c.617T>C	p.I206T	Missense	5/16	-	1
4-128807143-C-A	c.618C>A	p.I206=	Synonymous	5/16	-	2
4-128807143-C-T	c.618C>T	p.I206=	Synonymous	5/16	-	7
4-128807144-G-A	c.619G>A	p.G207R	Missense	5/16	-	2
4-128807144-G-T	c.619G>T	p.G207W	Missense	5/16	-	2
4-128807146-G-A	c.621G>A	p.G207=	Synonymous	5/16	-	3
4-128807146-G-C	c.621G>C	p.G207=	Synonymous	5/16	-	3
4-128807146-G-T	c.621G>T	p.G207=	Synonymous	5/16	-	5
4-128807149-A-C	c.624A>C	p.R208S	Missense	5/16	-	1
4-128807151-C-T	c.626C>T	p.P209L	Missense	5/16	-	1
4-128807153-CC-GG	c.628_629inv	p.P210G	Missense	5/16	-	1
4-128807156-T-C	c.631T>C	p.F211L	Missense	5/16	-	1
4-128807158-C-A	c.633C>A	p.F211L	Missense	5/16	-	1
4-128807158-C-G	c.633C>G	p.F211L	Missense	5/16	-	1
4-128807158-C-T	c.633C>T	p.F211=	Synonymous	5/16	-	2
4-128807165-G-A	c.640G>A	p.D214N	Missense	5/16	-	1
4-128807165-G-C	c.640G>C	p.D214H	Missense	5/16	-	1
4-128807169-C-T	c.644C>T	p.T215I	Missense	5/16	-	1
4-128807171-GTC-ATG	c.646_648delinsATG	p.V216M	Missense	5/16	-	1
4-128807172-TC-AG	c.647_648delinsAG	p.V216E	Missense	5/16	-	1
4-128807175-A-T	c.650A>T	p.K217M	Missense	5/16	-	1
4-128807176-G-C	c.651G>C	p.K217N	Missense	5/16	-	1
4-128807176-G-T	c.651G>T	p.K217N	Missense	5/16	-	1
4-128807183-TT-CC	c.658_659delinsCC	p.L220P	Missense	5/16	-	1
4-128807190-A-G	c.665A>G	p.K222R	Missense	5/16	-	1
4-128807192-G-A	c.667G>A	p.V223I	Missense	5/16	-	1
4-128807192-GTA-TTT	c.667_669delinsTTT	p.V223F	Missense	5/16	-	1
4-128807195-G-C	c.670G>C	p.V224L	Missense	5/16	-	1
4-128807195-G-T	c.670G>T	p.V224L	Missense	5/16	-	1
4-128807197-A-G	c.672A>G	p.V224=	Synonymous	5/16	-	1
4-128807201-G-A	c.676G>A	p.A226T	Missense	5/16	-	1
4-128807204-G-A	c.679G>A	p.D227N	Missense	5/16	-	1
4-128807205-A-G	c.680A>G	p.D227G	Missense	5/16	-	1
4-128807208-A-G	c.683A>G	p.Y228C	Missense	5/16	-	1
4-128807210-G-A	c.685G>A	p.E229K	Missense	5/16	-	2
4-128807210-G-C	c.685G>C	p.E229Q	Missense	5/16	-	1
4-128807211-A-T	c.686A>T	p.E229V	Missense	5/16	-	3
4-128807216-C-A	c.691C>A	p.P231T	Missense	5/16	-	1
4-128807216-C-T	c.691C>T	p.P231S	Missense	5/16	-	1
4-128807219-T-A	c.694T>A	p.S232T	Missense	5/16	-	44
4-128807219-T-G	c.694T>G	p.S232A	Missense	5/16	-	1
4-128807220-CT-AA	c.695_696delinsAA	p.S232*	Nonsense	5/16	-	1
4-128807221-T-A	c.696T>A	p.S232=	Synonymous	5/16	-	1
4-128807221-T-C	c.696T>C	p.S232=	Synonymous	5/16	-	1
4-128807221-T-G	c.696T>G	p.S232=	Synonymous	5/16	-	1
4-128807227-G-T	c.702G>T	p.L234F	Missense	5/16	-	1
4-128807228-T-A	c.703T>A	p.S235T	Missense	5/16	-	1
4-128807228-T-G	c.703T>G	p.S235A	Missense	5/16	-	1
4-128807231-A-G	c.706A>G	p.I236V	Missense	5/16	-	1
4-128807234-G-C	c.709G>C	p.E237Q	Missense	5/16	-	1
4-128807241-A-C	c.716A>C	p.K239T	Missense	5/16	-	1
4-128807243-G-A	c.718G>A	p.D240N	Missense	5/16	-	3
4-128807243-G-T	c.718G>T	p.D240Y	Missense	5/16	-	1
4-128807250-T-A	c.725T>A	p.I242N	Missense	5/16	-	2
4-128807250-T-C	c.725T>C	p.I242T	Missense	5/16	-	1
4-128807252-C-T	c.727C>T	p.H243Y	Missense	5/16	-	1
4-128807255-C-A	c.730C>A	p.Q244K	Missense	5/16	-	1
4-128807255-C-T	c.730C>T	p.Q244*	Nonsense	5/16	-	1
4-128807261-C-T	c.736C>T	p.L246F	Missense	5/16	-	5
4-128807264-C-T	c.739C>T	p.R247C	Missense	5/16	-	3
4-128807265-G-A	c.740G>A	p.R247H	Missense	5/16	-	1
4-128807267-A-G	c.742A>G	p.R248G	Missense	5/16	-	1
4-128807271-A-G	c.746A>G	p.N249S	Missense	5/16	-	1
4-128807278-A-C	c.753A>C	p.A251=	Synonymous	5/16	-	3
4-128807278-A-G	c.753A>G	p.A251=	Synonymous	5/16	-	3
4-128807278-A-T	c.753A>T	p.A251=	Synonymous	5/16	-	4
4-128807279-G-T	c.754G>T	p.D252Y	Missense	5/16	-	1
4-128807278-AGATC-A	c.755_758del	p.D252Vfs*2	Frameshift	5/16	-	1
4-128807282-C-A	c.757C>A	p.R253S	Missense	5/16	-	1
4-128807282-C-T	c.757C>T	p.R253C	Missense	5/16	-	2
4-128807283-G-A	c.758G>A	p.R253H	Missense	5/16	-	1
4-128807283-G-T	c.758G>T	p.R253L	Missense	5/16	-	1
4-128807284-T-A	c.759T>A	p.R253=	Synonymous	5/16	-	1
4-128807284-T-C	c.759T>C	p.R253=	Synonymous	5/16	-	1
4-128807284-T-G	c.759T>G	p.R253=	Synonymous	5/16	-	1
4-128807285-T-TAC	c.760_761insAC	p.L254Yfs*2	Frameshift	5/16	-	1
4-128807288-AG-GC	c.763_764delinsGC	p.S255A	Missense	5/16	-	2
4-128807294-TC-CT	c.769_770delinsCT	p.S257L	Missense	5/16	-	1
4-128807294-T-G	c.769T>G	p.S257A	Missense	5/16	-	1
4-128807295-C-G	c.770C>G	p.S257C	Missense	5/16	-	1
4-128807297-T-G	c.772T>G	p.S258A	Missense	5/16	-	2
4-128807298-C-A	c.773C>A	p.S258*	Nonsense	5/16	-	2
4-128807298-C-G	c.773C>G	p.S258*	Nonsense	5/16	-	1
4-128807308-C-T	c.783C>T	p.D261=	Synonymous	5/16	-	1
4-128807313-C-T	c.788C>T	p.P263L	Missense	5/16	-	2
4-128807319-T-A	c.794T>A	p.M265K	Missense	5/16	-	1
4-128807323-C-G	c.798C>G	p.S266=	Synonymous	5/16	-	1
4-128807325-G-A	c.800G>A	p.R267Q	Missense	5/16	-	3
4-128807328-A-G	c.803A>G	p.N268S	Missense	5/16	-	1
4-128807329-T-C	c.804T>C	p.N268=	Synonymous	5/16	-	2
4-128807331-C-A	c.806C>A	p.S269Y	Missense	5/16	-	3
4-128807336-A-G	c.811A>G	p.T271A	Missense	5/16	-	1
4-128807339-A-ATGGAACTCCTAACTACATTTCACC	c.814_815insTGGAACTCCTAACTACATTTCACC	p.K272delinsMELLTTFHQ	MultiAAMissense	5/16	-	1
4-128807339-A-ATGGAGCTTCTTACAACATTTCATC	c.814_815insTGGAGCTTCTTACAACATTTCATC	p.K272delinsMELLTTFHQ	MultiAAMissense	5/16	-	1
4-128807339-A-G	c.814A>G	p.K272E	Missense	5/16	-	1
4-128807341-A-C	c.816A>C	p.K272N	Missense	5/16	-	1
4-128807341-A-T	c.816A>T	p.K272N	Missense	5/16	-	1
4-128807342-AG-TT	c.817_818delinsTT	p.S273F	Missense	5/16	-	1
4-128807347-A-G	c.822A>G	p.K274=	Synonymous	5/16	-	1
4-128807348-G-A	c.823G>A	p.D275N	Missense	5/16	-	1
4-128807349-A-G	c.824A>G	p.D275G	Missense	5/16	-	1
4-128807351-T-G	c.826T>G	p.L276V	Missense	5/16	-	2
4-128807353-A-C	c.828A>C	p.L276F	Missense	5/16	-	1
4-128807354-G-T	c.829G>T	p.G277*	Nonsense	5/16	-	1
4-128807355-G-A	c.830G>A	p.G277E	Missense	5/16	-	1
4-128807357-A-T	c.832A>T	p.T278S	Missense	5/16	-	1
4-128807358-C-G	c.833C>G	p.T278S	Missense	5/16	-	1
4-128807358-CT-TG	c.833_834delinsTG	p.T278M	Missense	5/16	-	1
4-128807360-G-A	c.835G>A	p.V279M	Missense	5/16	-	1
4-128807366-G-A	c.841G>A	p.D281N	Missense	5/16	-	1
4-128807370-C-T	c.845C>T	p.S282L	Missense	5/16	-	1
4-128807372-A-G	c.847A>G	p.I283V	Missense	5/16	-	1
4-128807373-T-C	c.848T>C	p.I283T	Missense	5/16	-	1
4-128807375-G-A	c.850G>A	p.D284N	Missense	5/16	-	1
4-128807375-G-T	c.850G>T	p.D284Y	Missense	5/16	-	1
4-128807378-AG-GC	c.853_854delinsGC	p.S285A	Missense	5/16	-	3
4-128807379-G-T	c.854G>T	p.S285I	Missense	5/16	-	1
4-128807390-A-G	c.865A>G	p.T289A	Missense	5/16	-	3
4-128807394-T-G	c.869T>G	p.I290S	Missense	5/16	-	1
4-128807400-C-CT	c.876dup	p.A293Cfs*13	Frameshift	5/16	-	1
4-128807405-A-G	c.880A>G	p.I294V	Missense	5/16	-	1
4-128807406-T-G	c.881T>G	p.I294S	Missense	5/16	-	3
4-128807412-C-T	c.887C>T	p.A296V	Missense	5/16	-	1
4-128807414-TC-CT	c.889_890delinsCT	p.S297L	Missense	5/16	-	1
4-128807416-T-TACAGTCCCTACGTCTTTACTCTTTGGTGAAGGA	c.891_892insACAGTCCCTACGTCTTTACTCTTTGGTGAAGGA	p.S297_S298insTVPTSLLFGEG	InFrameInsertion	5/16	-	1
4-128807420-AGT-GAG	c.895_897delinsGAG	p.S299E	Missense	5/16	-	1
4-128807423-A-G	c.898A>G	p.T300A	Missense	5/16	-	2
4-128807424-C-T	c.899C>T	p.T300I	Missense	5/16	-	1
4-128807426-AG-TA	c.901_902delinsTA	p.S301Y	Missense	5/16	-	1
4-128807427-G-T	c.902G>T	p.S301I	Missense	5/16	-	1
4-128807427-G-GT	c.903dup	p.I302Yfs*4	Frameshift	5/16	-	1
4-128807429-A-G	c.904A>G	p.I302V	Missense	5/16	-	1
4-128807432-AG-CC	c.907_908delinsCC	p.S303P	Missense	5/16	-	1
4-128807432-AG-CT	c.907_908inv	p.S303L	Missense	5/16	-	1
4-128807432-AG-GC	c.907_908delinsGC	p.S303A	Missense	5/16	-	1
4-128807433-G-A	c.908G>A	p.S303N	Missense	5/16	-	1
4-128807433-G-T	c.908G>T	p.S303I	Missense	5/16	-	2
4-128807435-G-A	c.910G>A	p.G304S	Missense	5/16	-	1
4-128807438-AG-GC	c.913_914delinsGC	p.S305A	Missense	5/16	-	1
4-128807438-AGT-GAG	c.913_915delinsGAG	p.S305E	Missense	5/16	-	1
4-128807443-A-C	c.918A>C	p.L306F	Missense	5/16	-	1
4-128807445-T-G	c.920T>G	p.F307C	Missense	5/16	-	1
4-128807446-T-C	c.921T>C	p.F307=	Synonymous	5/16	-	1
4-128807451-A-G	c.926A>G	p.K309R	Missense	5/16	-	1
4-128807454-G-C	c.929G>C	p.R310T	Missense	5/16	-	3
4-128807454-G-T	c.929G>T	p.R310I	Missense	5/16	-	1
4-128807456-AGA-CAT	c.931_933delinsCAT	p.R311H	Missense	5/16	-	1
4-128807459-C-T	c.934C>T	p.L312F	Missense	5/16	-	1
4-128807464-G-A	c.939G>A	p.L313=	Synonymous	5/16	-	1
4-128807466-T-C	c.941T>C	p.I314T	Missense	5/16	-	1
4-128807468-G-C	c.943G>C	p.G315R	Missense	5/16	-	1
4-128807468-G-T	c.943G>T	p.G315C	Missense	5/16	-	2
4-128807469-G-A	c.944G>A	p.G315D	Missense	5/16	-	1
4-128807469-G-T	c.944G>T	p.G315V	Missense	5/16	-	2
4-128807475-C-T	c.950C>T	p.P317L	Missense	5/16	-	9
4-128807480-C-T	c.955C>T	p.P319S	Missense	5/16	-	3
4-128807493-C-A	c.968C>A	p.T323N	Missense	5/16	-	1
4-128807495-GTA-ATG	c.970_972delinsATG	p.V324M	Missense	5/16	-	1
4-128807505-A-G	c.980A>G	p.K327R	Missense	5/16	-	1
4-128807512-A-T	c.987A>T	p.K329N	Missense	5/16	-	1
4-128807514-G-A	c.989G>A	p.S330N	Missense	5/16	-	1
4-128807516-T-C	c.991T>C	p.S331P	Missense	5/16	-	1
4-128807517-C-A	c.992C>A	p.S331*	Nonsense	5/16	-	1
4-128807517-C-G	c.992C>G	p.S331*	Nonsense	5/16	-	1
4-128807520-C-T	c.995C>T	p.T332I	Missense	5/16	-	2
4-128807522-G-A	c.997G>A	p.D333N	Missense	5/16	-	2
4-128807522-G-T	c.997G>T	p.D333Y	Missense	5/16	-	1
4-128807525-T-G	c.1000T>G	p.F334V	Missense	5/16	-	1
4-128807523-A-AT	c.1003dup	p.S335Ffs*20	Frameshift	5/16	-	1
4-128807528-T-C	c.1003T>C	p.S335P	Missense	5/16	-	4
4-128807528-TC-AT	c.1003_1004delinsAT	p.S335I	Missense	5/16	-	1
4-128807532-C-T	c.1007C>T	p.S336F	Missense	5/16	-	1
4-128807537-G-A	c.1012G>A	p.G338R	Missense	5/16	-	1
4-128807537-G-C	c.1012G>C	p.G338R	Missense	5/16	-	1
4-128807539-A-G	c.1014A>G	p.G338=	Synonymous	5/16	-	1
4-128807540-G-C	c.1015G>C	p.D339H	Missense	5/16	-	2
4-128807541-A-T	c.1016A>T	p.D339V	Missense	5/16	-	1
4-128807549-AG-GC	c.1024_1025delinsGC	p.S342A	Missense	5/16	-	1
4-128807550-G-T	c.1025G>T	p.S342I	Missense	5/16	-	1
4-128807553-T-C	c.1028T>C	p.F343S	Missense	5/16	-	1
4-128807555-T-C	c.1030T>C	p.Y344H	Missense	5/16	-	1
4-128807558-A-G	c.1033A>G	p.T345A	Missense	5/16	-	1
4-128807561-C-T	c.1036C>T	p.Q346*	Nonsense	5/16	-	1
4-128807564-T-C	c.1039T>C	p.W347R	Missense	5/16	-	1
4-128807567-G-A	c.1042G>A	p.G348R	Missense	5/16	-	2
4-128807567-G-C	c.1042G>C	p.G348R	Missense	5/16	-	1
4-128807568-G-A	c.1043G>A	p.G348E	Missense	5/16	-	1
4-128807570-A-T	c.1045A>T	p.N349Y	Missense	5/16	-	1
4-128807574-A-T	c.1049A>T	p.Q350L	Missense	5/16	-	1
4-128807576-G-T	c.1051G>T	p.E351*	Nonsense	5/16	-	1
4-128807583-G-A	c.1058G>A	p.S353N	Missense	5/16	-	1
4-128807585-A-T	c.1060A>T	p.N354Y	Missense	5/16	-	1
4-128807588-AG-CT	c.1063_1064inv	p.S355L	Missense	5/16	-	1
4-128807589-G-A	c.1064G>A	p.S355N	Missense	5/16	-	1
4-128807594-AG-TA	c.1069_1070delinsTA	p.R357*	Nonsense	5/16	-	1
4-128807595-G-C	c.1070G>C	p.R357T	Missense	5/16	-	1
4-128807600-A-G	c.1075A>G	p.R359G	Missense	5/16	-	1
4-128807600-AG-GC	c.1075_1076delinsGC	p.R359A	Missense	5/16	-	1
4-128807601-G-A	c.1076G>A	p.R359K	Missense	5/16	-	1
4-128807601-G-C	c.1076G>C	p.R359T	Missense	5/16	-	1
4-128807601-G-T	c.1076G>T	p.R359I	Missense	5/16	-	1
4-128807602-A-C	c.1077A>C	p.R359S	Missense	5/16	-	2
4-128807602-A-T	c.1077A>T	p.R359S	Missense	5/16	-	2
4-128807603-G-A	c.1078G>A	p.V360I	Missense	5/16	-	1
4-128807603-G-C	c.1078G>C	p.V360L	Missense	5/16	-	1
4-128807603-G-T	c.1078G>T	p.V360L	Missense	5/16	-	1
4-128807609-C-G	c.1084C>G	p.Q362E	Missense	5/16	-	1
4-128807610-A-T	c.1085A>T	p.Q362L	Missense	5/16	-	1
4-128807612-G-C	c.1087G>C	p.D363H	Missense	5/16	-	1
4-128807615-G-A	c.1090G>A	p.A364T	Missense	5/16	-	1
4-128807616-CA-AC	c.1091_1092delinsAC	p.A364D	Missense	5/16	-	1
4-128807618-AG-A	c.1093del	p.E365Kfs*121	Frameshift	5/16	-	1
4-128807618-G-A	c.1093G>A	p.E365K	Missense	5/16	-	1
4-128807618-G-T	c.1093G>T	p.E365*	Nonsense	5/16	-	1
4-128807619-A-T	c.1094A>T	p.E365V	Missense	5/16	-	1
4-128807624-A-G	c.1099A>G	p.R367G	Missense	5/16	-	1
4-128807624-AG-CA	c.1099_1100delinsCA	p.R367Q	Missense	5/16	-	1
4-128807624-AG-CT	c.1099_1100inv	p.R367L	Missense	5/16	-	1
4-128807624-AGG-TGT	c.1099_1101delinsTGT	p.R367C	Missense	5/16	-	1
4-128807627-C-G	c.1102C>G	p.P368A	Missense	5/16	-	1
4-128807631-A-G	c.1106A>G	p.H369R	Missense	5/16	-	1
4-128807633-TC-AA	c.1108_1109delinsAA	p.S370N	Missense	5/16	-	1
4-128807633-TC-GA	c.1108_1109inv	p.S370D	Missense	5/16	-	1
4-128807636-C-T	c.1111C>T	p.R371*	Nonsense	5/16	-	2
4-128807637-G-A	c.1112G>A	p.R371Q	Missense	5/16	-	3
4-128807640-A-T	c.1115A>T	p.Y372F	Missense	5/16	-	1
4-128807645-CGT-TGG	c.1120_1122delinsTGG	p.R374W	Missense	5/16	-	1
4-128807645-C-T	c.1120C>T	p.R374C	Missense	5/16	-	1
4-128807646-G-T	c.1121G>T	p.R374L	Missense	5/16	-	1
4-128807646-GT-AA	c.1121_1122delinsAA	p.R374Q	Missense	5/16	-	1
4-128807648-A-G	c.1123A>G	p.R375G	Missense	5/16	-	4
4-128807648-AGA-TGT	c.1123_1125delinsTGT	p.R375C	Missense	5/16	-	1
4-128807647-TAG-T	c.1125_1126del	p.R375Sfs*5	Frameshift	5/16	-	1
4-128807655-A-G	c.1130A>G	p.Y377C	Missense	5/16	-	1
4-128807658-C-T	c.1133C>T	p.S378F	Missense	5/16	-	2
4-128807660-T-C	c.1135T>C	p.S379P	Missense	5/16	-	1
4-128807660-T-G	c.1135T>G	p.S379A	Missense	5/16	-	1
4-128807663-G-C	c.1138G>C	p.D380H	Missense	5/16	-	2
4-128807663-G-T	c.1138G>T	p.D380Y	Missense	5/16	-	1
4-128807664-A-G	c.1139A>G	p.D380G	Missense	5/16	-	1
4-128807666-AG-CT	c.1141_1142inv	p.R381L	Missense	5/16	-	1
4-128807670-C-T	c.1145C>T	p.S382F	Missense	5/16	-	1
4-128807674-C-A	c.1149C>A	p.G383=	Synonymous	5/16	-	1
4-128807674-C-G	c.1149C>G	p.G383=	Synonymous	5/16	-	1
4-128807674-C-T	c.1149C>T	p.G383=	Synonymous	5/16	-	1
4-128807677-CTT-C	c.1152_1153del	p.S385*	Frameshift	5/16	-	1
4-128807679-C-A	c.1154C>A	p.S385Y	Missense	5/16	-	1
4-128807690-TC-AA	c.1165_1166delinsAA	p.S389N	Missense	5/16	-	1
4-128807697-C-T	c.1172C>T	p.A391V	Missense	5/16	-	1
4-128807711-A-G	c.1186A>G	p.M396V	Missense	5/16	-	4
4-128807714-G-T	c.1189G>T	p.E397*	Nonsense	5/16	-	1
4-128807717-C-T	c.1192C>T	p.R398*	Nonsense	5/16	-	1
4-128807732-G-T	c.1207G>T	p.E403*	Nonsense	5/16	-	1
4-128807734-A-G	c.1209A>G	p.E403=	Synonymous	5/16	-	1
4-128807744-G-C	c.1219G>C	p.V407L	Missense	5/16	-	1
4-128807745-T-C	c.1220T>C	p.V407A	Missense	5/16	-	1
4-128807750-A-G	c.1225A>G	p.K409E	Missense	5/16	-	1
4-128807753-A-G	c.1228A>G	p.R410G	Missense	5/16	-	1
4-128807754-G-A	c.1229G>A	p.R410K	Missense	5/16	-	1
4-128807754-G-T	c.1229G>T	p.R410I	Missense	5/16	-	1
4-128807756-T-G	c.1231T>G	p.S411A	Missense	5/16	-	1
4-128807763-G-A	c.1238G>A	p.G413E	Missense	5/16	-	2
4-128807765-G-A	c.1240G>A	p.G414S	Missense	5/16	-	3
4-128807765-G-T	c.1240G>T	p.G414C	Missense	5/16	-	1
4-128807766-G-A	c.1241G>A	p.G414D	Missense	5/16	-	1
4-128807767-T-A	c.1242T>A	p.G414=	Synonymous	5/16	-	1
4-128807767-T-C	c.1242T>C	p.G414=	Synonymous	5/16	-	1
4-128807767-T-G	c.1242T>G	p.G414=	Synonymous	5/16	-	2
4-128807768-G-A	c.1243G>A	p.E415K	Missense	5/16	-	1
4-128807773-ATG-A	c.1248_1249del	p.N416Kfs*15	Frameshift	5/16	-	1
4-128807774-G-C	c.1249G>C	p.E417Q	Missense	5/16	-	1
4-128807777-G-C	c.1252G>C	p.E418Q	Missense	5/16	-	1
4-128807786-T-G	c.1261T>G	p.S421A	Missense	5/16	-	1
4-128807787-C-T	c.1262C>T	p.S421L	Missense	5/16	-	1
4-128807788-A-G	c.1263A>G	p.S421=	Synonymous	5/16	-	1
4-128807792-A-G	c.1267A>G	p.T423A	Missense	5/16	-	1
4-128807795-G-T	c.1270G>T	p.D424Y	Missense	5/16	-	1
4-128807800-C-A	c.1275C>A	p.N425K	Missense	5/16	-	1
4-128807817-A-G	c.1292A>G	p.N431S	Missense	5/16	-	1
4-128807824-TTAAAG-T	c.1299_1303del	p.F433Lfs*6	Frameshift	5/16	-	3
4-128807832-A-G	c.1307A>G	p.K436R	Missense	5/16	-	1
4-128807833-G-C	c.1308G>C	p.K436N	Missense	5/16	-	2
4-128807833-G-T	c.1308G>T	p.K436N	Missense	5/16	-	1
4-128807837-T-C	c.1312T>C	p.S438P	Missense	5/16	-	1
4-128807838-C-T	c.1313C>T	p.S438F	Missense	5/16	-	2
4-128807840-A-G	c.1315A>G	p.S439G	Missense	5/16	-	1
4-128807841-G-A	c.1316G>A	p.S439N	Missense	5/16	-	1
4-128807843-A-T	c.1318A>T	p.S440C	Missense	5/16	-	1
4-128807847-C-A	c.1322C>A	p.S441Y	Missense	5/16	-	1
4-128807847-C-G	c.1322C>G	p.S441C	Missense	5/16	-	1
4-128807849-GGA-AGC	c.1324_1326delinsAGC	p.G442S	Missense	5/16	-	1
4-128807852-T-G	c.1327T>G	p.S443A	Missense	5/16	-	1
4-128807853-C-A	c.1328C>A	p.S443Y	Missense	5/16	-	1
4-128807861-AGA-TGT	c.1336_1338delinsTGT	p.R446C	Missense	5/16	-	1
4-128807861-AG-CA	c.1336_1337delinsCA	p.R446Q	Missense	5/16	-	1
4-128807862-G-A	c.1337G>A	p.R446K	Missense	5/16	-	1
4-128807864-C-G	c.1339C>G	p.P447A	Missense	5/16	-	1
4-128807865-C-T	c.1340C>T	p.P447L	Missense	5/16	-	4
4-128807867-G-A	c.1342G>A	p.D448N	Missense	5/16	-	1
4-128807870-A-G	c.1345A>G	p.N449D	Missense	5/16	-	1
4-128807872-C-CT	c.1347_1348insT	p.N450*	Nonsense	5/16	-	1
4-128807874-A-G	c.1349A>G	p.N450S	Missense	5/16	-	1
4-128807875-T-C	c.1350T>C	p.N450=	Synonymous	5/16	-	1
4-128807884-G-A	c.1358+1G>A	-	IntronicSNV	-	5/15	1
4-128808554-C-T	c.1362C>T	p.S454=	Synonymous	6/16	-	1
4-128808567-C-T	c.1375C>T	p.P459S	Missense	6/16	-	1
4-128808570-G-C	c.1378G>C	p.G460R	Missense	6/16	-	1
4-128808570-GGA-TGG	c.1378_1380delinsTGG	p.G460W	Missense	6/16	-	1
4-128808571-G-GA	c.1384dup	p.T462Nfs*13	Frameshift	6/16	-	1
4-128808576-A-G	c.1384A>G	p.T462A	Missense	6/16	-	1
4-128808580-C-T	c.1388C>T	p.P463L	Missense	6/16	-	1
4-128808585-C-T	c.1393C>T	p.P465S	Missense	6/16	-	1
4-128808591-G-T	c.1399G>T	p.A467S	Missense	6/16	-	3
4-128808594-G-A	c.1402G>A	p.D468N	Missense	6/16	-	1
4-128808594-G-C	c.1402G>C	p.D468H	Missense	6/16	-	1
4-128808599-G-A	c.1407G>A	p.P469=	Synonymous	6/16	-	1
4-128808599-G-C	c.1407G>C	p.P469=	Synonymous	6/16	-	1
4-128808599-G-T	c.1407G>T	p.P469=	Synonymous	6/16	-	1
4-128808603-C-T	c.1411C>T	p.P471S	Missense	6/16	-	1
4-128808604-C-T	c.1412C>T	p.P471L	Missense	6/16	-	1
4-128808608-G-A	c.1416G>A	p.Q472=	Synonymous	6/16	-	1
4-128808610-C-T	c.1418C>T	p.T473I	Missense	6/16	-	1
4-128808612-G-A	c.1420G>A	p.E474K	Missense	6/16	-	1
4-128808612-GA-G	c.1423del	p.T475Pfs*11	Frameshift	6/16	-	1
4-128808618-G-A	c.1426G>A	p.V476I	Missense	6/16	-	1
4-128808625-CAG-C	c.1433_1434del	p.Q478Lfs*16	Frameshift	6/16	-	1
4-128808641-G-A	c.1449G>A	p.L483=	Synonymous	6/16	-	1
4-128808643-A-G	c.1451A>G	p.Q484R	Missense	6/16	-	1
4-128808649-A-G	c.1457A>G	p.N486S	Missense	6/16	-	1
4-128811021-C-T	c.1460C>T	p.A487V	Missense	7/16	-	1
4-128811023-C-T	c.1462C>T	p.H488Y	Missense	7/16	-	1
4-128811024-A-G	c.1463A>G	p.H488R	Missense	7/16	-	1
4-128811030-G-C	c.1469G>C	p.R490T	Missense	7/16	-	1
4-128811033-A-T	c.1472A>T	p.K491I	Missense	7/16	-	1
4-128811041-G-T	c.1480G>T	p.E494*	Nonsense	7/16	-	1
4-128811044-T-C	c.1483T>C	p.Y495H	Missense	7/16	-	1
4-128811045-A-G	c.1484A>G	p.Y495C	Missense	7/16	-	1
4-128811056-AG-TT	c.1495_1496delinsTT	p.S499F	Missense	7/16	-	1
4-128811056-A-C	c.1495A>C	p.S499R	Missense	7/16	-	1
4-128811058-C-A	c.1497C>A	p.S499R	Missense	7/16	-	1
4-128811058-C-G	c.1497C>G	p.S499R	Missense	7/16	-	1
4-128811058-C-T	c.1497C>T	p.S499=	Synonymous	7/16	-	1
4-128811060-C-A	c.1499C>A	p.P500Q	Missense	7/16	-	1
4-128811062-A-T	c.1501A>T	p.N501Y	Missense	7/16	-	1
4-128811064-C-A	c.1503C>A	p.N501K	Missense	7/16	-	1
4-128811064-C-G	c.1503C>G	p.N501K	Missense	7/16	-	1
4-128811065-C-G	c.1504C>G	p.R502G	Missense	7/16	-	1
4-128811065-CG-AA	c.1504_1505delinsAA	p.R502K	Missense	7/16	-	1
4-128811065-C-T	c.1504C>T	p.R502W	Missense	7/16	-	1
4-128811076-G-A	c.1515G>A	p.Q505=	Synonymous	7/16	-	1
4-128811078-G-A	c.1517G>A	p.G506D	Missense	7/16	-	1
4-128811078-G-T	c.1517G>T	p.G506V	Missense	7/16	-	1
4-128811080-C-G	c.1519C>G	p.H507D	Missense	7/16	-	1
4-128811086-G-A	c.1525G>A	p.D509N	Missense	7/16	-	1
4-128811093-A-G	c.1532A>G	p.Q511R	Missense	7/16	-	1
4-128811099-A-G	c.1538A>G	p.D513G	Missense	7/16	-	2
4-128811109-A-AC	c.1548_1549insC	p.N517Qfs*5	Frameshift	7/16	-	1
4-128811105-CA-C	c.1550del	p.N517Mfs*21	Frameshift	7/16	-	1
4-128811105-C-CA	c.1550dup	p.N517Kfs*5	Frameshift	7/16	-	1
4-128811113-G-T	c.1552G>T	p.A518S	Missense	7/16	-	1
4-128811114-C-T	c.1553C>T	p.A518V	Missense	7/16	-	1
4-128811117-G-C	c.1556G>C	p.W519S	Missense	7/16	-	13
4-128811117-G-T	c.1556G>T	p.W519L	Missense	7/16	-	1
4-128811122-G-A	c.1561G>A	p.D521N	Missense	7/16	-	1
4-128811126-C-G	c.1565C>G	p.T522R	Missense	7/16	-	1
4-128811127-A-AT	c.1566_1567insT	p.K523*	Nonsense	7/16	-	1
4-128811131-GTC-ATG	c.1570_1572delinsATG	p.V524M	Missense	7/16	-	1
4-128811141-A-G	c.1580A>G	p.N527S	Missense	7/16	-	1
4-128811144-C-T	c.1583C>T	p.S528F	Missense	7/16	-	1
4-128811146-G-C	c.1585G>C	p.D529H	Missense	7/16	-	1
4-128811150-C-T	c.1589C>T	p.A530V	Missense	7/16	-	2
4-128811152-T-C	c.1591T>C	p.S531P	Missense	7/16	-	1
4-128811153-C-T	c.1592C>T	p.S531F	Missense	7/16	-	1
4-128811153-C-CT	c.1593dup	p.D532*	Nonsense	7/16	-	1
4-128811154-CT-C	c.1593del	p.D532Ifs*6	Frameshift	7/16	-	1
4-128811155-TG-T	c.1594del	p.D532Ifs*6	Frameshift	7/16	-	2
4-128811158-A-G	c.1597A>G	p.N533D	Missense	7/16	-	1
4-128811161-G-A	c.1600G>A	p.A534T	Missense	7/16	-	1
4-128811162-C-T	c.1601C>T	p.A534V	Missense	7/16	-	2
4-128811163-A-C	c.1602A>C	p.A534=	Synonymous	7/16	-	2
4-128811163-A-G	c.1602A>G	p.A534=	Synonymous	7/16	-	3
4-128811163-A-T	c.1602A>T	p.A534=	Synonymous	7/16	-	2
4-128811185-A-G	c.1624A>G	p.T542A	Missense	7/16	-	1
4-128811186-C-T	c.1625C>T	p.T542I	Missense	7/16	-	1
4-128811188-A-C	c.1627A>C	p.M543L	Missense	7/16	-	1
4-128811188-A-G	c.1627A>G	p.M543V	Missense	7/16	-	1
4-128811190-G-T	c.1629G>T	p.M543I	Missense	7/16	-	1
4-128811192-A-T	c.1631A>T	p.K544I	Missense	7/16	-	1
4-128811193-A-G	c.1632A>G	p.K544=	Synonymous	7/16	-	1
4-128811195-A-G	c.1634A>G	p.Y545C	Missense	7/16	-	2
4-128811195-A-T	c.1634A>T	p.Y545F	Missense	7/16	-	1
4-128811197-A-G	c.1636A>G	p.M546V	Missense	7/16	-	1
4-128811203-G-A	c.1642G>A	p.A548T	Missense	7/16	-	1
4-128811205-A-C	c.1644A>C	p.A548=	Synonymous	7/16	-	1
4-128811205-A-G	c.1644A>G	p.A548=	Synonymous	7/16	-	1
4-128811205-A-T	c.1644A>T	p.A548=	Synonymous	7/16	-	1
4-128811211-AC-A	c.1650del	p.H550Qfs*6	Frameshift	7/16	-	2
4-128811212-AG-TT	c.1651_1652delinsTT	p.S551F	Missense	7/16	-	2
4-128811212-A-T	c.1651A>T	p.S551C	Missense	7/16	-	1
4-128811213-G-A	c.1652G>A	p.S551N	Missense	7/16	-	1
4-128811214-TAA-T	c.1655_1656del	p.K552Tfs*2	Frameshift	7/16	-	1
4-128811218-ACCT-A	c.1657_1659del	p.P553del	InFrameDeletion	7/16	-	1
4-128811218-C-A	c.1657C>A	p.P553T	Missense	7/16	-	1
4-128811231-A-T	c.1670A>T	p.Q557L	Missense	7/16	-	1
4-128811234-A-G	c.1673A>G	p.Q558R	Missense	7/16	-	1
4-128811234-A-T	c.1673A>T	p.Q558L	Missense	7/16	-	1
4-128811243-T-A	c.1682T>A	p.V561D	Missense	7/16	-	1
4-128811244-T-A	c.1683T>A	p.V561=	Synonymous	7/16	-	1
4-128811244-T-C	c.1683T>C	p.V561=	Synonymous	7/16	-	1
4-128811244-T-G	c.1683T>G	p.V561=	Synonymous	7/16	-	1
4-128811246-T-A	c.1685T>A	p.F562Y	Missense	7/16	-	1
4-128811248-G-A	c.1687G>A	p.G563S	Missense	7/16	-	1
4-128811254-G-T	c.1693G>T	p.D565Y	Missense	7/16	-	1
4-128811256-T-A	c.1695T>A	p.D565E	Missense	7/16	-	1
4-128811258-C-T	c.1697C>T	p.P566L	Missense	7/16	-	1
4-128811266-G-T	c.1705G>T	p.E569*	Nonsense	7/16	-	1
4-128811268-A-C	c.1707A>C	p.E569D	Missense	7/16	-	1
4-128811268-A-T	c.1707A>T	p.E569D	Missense	7/16	-	1
4-128811271-G-C	c.1710G>C	p.Q570H	Missense	7/16	-	1
4-128811271-G-T	c.1710G>T	p.Q570H	Missense	7/16	-	1
4-128811273-G-A	c.1712G>A	p.S571N	Missense	7/16	-	1
4-128811273-G-T	c.1712G>T	p.S571I	Missense	7/16	-	1
4-128811274-C-G	c.1713C>G	p.S571R	Missense	7/16	-	1
4-128811275-A-G	c.1714A>G	p.K572E	Missense	7/16	-	1
4-128811276-A-G	c.1715A>G	p.K572R	Missense	7/16	-	1
4-128811281-AG-CC	c.1720_1721delinsCC	p.R574P	Missense	7/16	-	1
4-128811281-AGG-CAT	c.1720_1722delinsCAT	p.R574H	Missense	7/16	-	1
4-128811283-G-A	c.1722G>A	p.R574=	Synonymous	7/16	-	1
4-128811284-G-A	c.1723G>A	p.G575S	Missense	7/16	-	1
4-128811284-G-C	c.1723G>C	p.G575R	Missense	7/16	-	1
4-128811293-C-T	c.1732C>T	p.P578S	Missense	7/16	-	1
4-128811294-C-T	c.1733C>T	p.P578L	Missense	7/16	-	1
4-128811300-G-A	c.1739G>A	p.W580*	Nonsense	7/16	-	1
4-128811301-G-A	c.1740G>A	p.W580*	Nonsense	7/16	-	1
4-128811302-G-A	c.1741G>A	p.G581S	Missense	7/16	-	1
4-128811303-G-A	c.1742G>A	p.G581D	Missense	7/16	-	1
4-128811314-CGT-ATG	c.1753_1755delinsATG	p.R585M	Missense	7/16	-	1
4-128811315-G-A	c.1754G>A	p.R585H	Missense	7/16	-	2
4-128811315-GT-AA	c.1754_1755delinsAA	p.R585Q	Missense	7/16	-	1
4-128811317-A-G	c.1756A>G	p.T586A	Missense	7/16	-	1
4-128811320-T-G	c.1759T>G	p.L587V	Missense	7/16	-	1
4-128811323-A-C	c.1762A>C	p.R588=	Synonymous	7/16	-	1
4-128811324-G-C	c.1763G>C	p.R588T	Missense	7/16	-	2
4-128811329-A-G	c.1768A>G	p.I590V	Missense	7/16	-	1
4-128811328-CATT-C	c.1769_1771del	p.I590del	InFrameDeletion	7/16	-	1
4-128811331-T-A	c.1770T>A	p.I590=	Synonymous	7/16	-	1
4-128811336-C-T	c.1775C>T	p.S592F	Missense	7/16	-	1
4-128811339-C-T	c.1778C>T	p.P593L	Missense	7/16	-	2
4-128811345-T-C	c.1784T>C	p.V595A	Missense	7/16	-	2
4-128811354-G-T	c.1793G>T	p.R598M	Missense	7/16	-	1
4-128811355-G-A	c.1794G>A	p.R598=	Synonymous	7/16	-	1
4-128811355-G-C	c.1794G>C	p.R598S	Missense	7/16	-	1
4-128811355-G-T	c.1794G>T	p.R598S	Missense	7/16	-	3
4-128811356-GTTA-G	c.1795_1797del	p.L599del	InFrameDeletion	7/16	-	1
4-128811359-AA-GC	c.1798_1799delinsGC	p.K600A	Missense	7/16	-	1
4-128811359-A-G	c.1798A>G	p.K600E	Missense	7/16	-	1
4-128811369-G-T	c.1808G>T	p.R603I	Missense	7/16	-	1
4-128811371-C-A	c.1810C>A	p.Q604K	Missense	7/16	-	1
4-128811373-G-C	c.1812G>C	p.Q604H	Missense	7/16	-	1
4-128811373-G-T	c.1812G>T	p.Q604H	Missense	7/16	-	1
4-128811378-C-T	c.1817C>T	p.T606I	Missense	7/16	-	1
4-128811383-AA-GC	c.1822_1823delinsGC	p.K608A	Missense	7/16	-	1
4-128811391-G-A	c.1830G>A	p.V610=	Synonymous	7/16	-	1
4-128811391-G-C	c.1830G>C	p.V610=	Synonymous	7/16	-	2
4-128811391-G-T	c.1830G>T	p.V610=	Synonymous	7/16	-	1
4-128811392-G-A	c.1830+1G>A	-	IntronicSNV	-	7/15	1
4-128811398-C-G	c.1830+7C>G	-	IntronicSNV	-	7/15	1
4-128811504-G-C	c.1830+113G>C	-	IntronicSNV	-	7/15	1
4-128812231-T-TTG	c.1831-15_1831-14insGT	-	IntronicInsertion	-	7/15	3
4-128812253-A-G	c.1837A>G	p.I613V	Missense	8/16	-	1
4-128812256-C-T	c.1840C>T	p.L614F	Missense	8/16	-	1
4-128812259-G-T	c.1843G>T	p.D615Y	Missense	8/16	-	1
4-128812260-A-G	c.1844A>G	p.D615G	Missense	8/16	-	1
4-128812262-TC-GG	c.1846_1847delinsGG	p.S616G	Missense	8/16	-	1
4-128812264-A-T	c.1848A>T	p.S616=	Synonymous	8/16	-	1
4-128812265-G-A	c.1849G>A	p.E617K	Missense	8/16	-	1
4-128812265-G-T	c.1849G>T	p.E617*	Nonsense	8/16	-	1
4-128812271-G-A	c.1855G>A	p.V619M	Missense	8/16	-	2
4-128812271-G-T	c.1855G>T	p.V619L	Missense	8/16	-	2
4-128812274-T-C	c.1858T>C	p.C620R	Missense	8/16	-	1
4-128812274-TG-AC	c.1858_1859delinsAC	p.C620T	Missense	8/16	-	1
4-128812277-G-A	c.1861G>A	p.V621M	Missense	8/16	-	1
4-128812278-T-C	c.1862T>C	p.V621A	Missense	8/16	-	1
4-128812283-C-G	c.1867C>G	p.L623V	Missense	8/16	-	1
4-128812286-G-A	c.1870G>A	p.V624I	Missense	8/16	-	1
4-128812286-GTA-ATG	c.1870_1872delinsATG	p.V624M	Missense	8/16	-	1
4-128812298-G-T	c.1882G>T	p.A628S	Missense	8/16	-	1
4-128812301-T-A	c.1885T>A	p.S629T	Missense	8/16	-	1
4-128812304-C-G	c.1888C>G	p.Q630E	Missense	8/16	-	1
4-128812304-CAAG-C	c.1891_1893del	p.E631del	InFrameDeletion	8/16	-	1
4-128812325-C-A	c.1909C>A	p.L637I	Missense	8/16	-	4
4-128812325-C-G	c.1909C>G	p.L637V	Missense	8/16	-	1
4-128812330-G-A	c.1914G>A	p.Q638=	Synonymous	8/16	-	2
4-128812331-A-G	c.1915A>G	p.I639V	Missense	8/16	-	2
4-128812333-A-G	c.1917A>G	p.I639M	Missense	8/16	-	1
4-128812335-C-G	c.1919C>G	p.S640C	Missense	8/16	-	1
4-128812337-A-G	c.1921A>G	p.S641G	Missense	8/16	-	1
4-128812340-G-A	c.1924G>A	p.D642N	Missense	8/16	-	1
4-128812340-G-T	c.1924G>T	p.D642Y	Missense	8/16	-	1
4-128812343-G-A	c.1927G>A	p.G643R	Missense	8/16	-	1
4-128812349-A-G	c.1933A>G	p.T645A	Missense	8/16	-	1
4-128812350-C-T	c.1934C>T	p.T645M	Missense	8/16	-	3
4-128812351-G-A	c.1935G>A	p.T645=	Synonymous	8/16	-	1
4-128812351-G-T	c.1935G>T	p.T645=	Synonymous	8/16	-	1
4-128812356-T-C	c.1935+5T>C	-	IntronicSNV	-	8/15	1
4-128812404-G-A	c.1935+53G>A	-	IntronicSNV	-	8/15	1
4-128812700-A-G	c.1936-34A>G	-	IntronicSNV	-	8/15	1
4-128812700-A-T	c.1936-34A>T	-	IntronicSNV	-	8/15	1
4-128812734-A-G	c.1936A>G	p.I646V	Missense	9/16	-	1
4-128812735-T-C	c.1937T>C	p.I646T	Missense	9/16	-	1
4-128812736-C-G	c.1938C>G	p.I646M	Missense	9/16	-	1
4-128812736-C-T	c.1938C>T	p.I646=	Synonymous	9/16	-	2
4-128812737-A-G	c.1939A>G	p.T647A	Missense	9/16	-	1
4-128812740-A-G	c.1942A>G	p.I648V	Missense	9/16	-	3
4-128812751-A-C	c.1953A>C	p.P651=	Synonymous	9/16	-	1
4-128812751-A-G	c.1953A>G	p.P651=	Synonymous	9/16	-	1
4-128812751-A-T	c.1953A>T	p.P651=	Synonymous	9/16	-	1
4-128812755-G-T	c.1957G>T	p.G653C	Missense	9/16	-	1
4-128812759-G-A	c.1961G>A	p.G654D	Missense	9/16	-	1
4-128812762-G-A	c.1964G>A	p.R655K	Missense	9/16	-	1
4-128812767-T-C	c.1969T>C	p.F657L	Missense	9/16	-	1
4-128812769-T-A	c.1971T>A	p.F657L	Missense	9/16	-	1
4-128812769-T-G	c.1971T>G	p.F657L	Missense	9/16	-	1
4-128812770-C-T	c.1972C>T	p.P658S	Missense	9/16	-	2
4-128812772-T-A	c.1974T>A	p.P658=	Synonymous	9/16	-	1
4-128812772-T-C	c.1974T>C	p.P658=	Synonymous	9/16	-	3
4-128812772-T-G	c.1974T>G	p.P658=	Synonymous	9/16	-	1
4-128812777-C-G	c.1979C>G	p.A660G	Missense	9/16	-	1
4-128812780-A-G	c.1982A>G	p.D661G	Missense	9/16	-	1
4-128812781-T-A	c.1983T>A	p.D661E	Missense	9/16	-	1
4-128812781-T-G	c.1983T>G	p.D661E	Missense	9/16	-	1
4-128812782-AGA-TGT	c.1984_1986delinsTGT	p.R662C	Missense	9/16	-	1
4-128812782-AG-CA	c.1984_1985delinsCA	p.R662Q	Missense	9/16	-	1
4-128812785-C-T	c.1987C>T	p.P663S	Missense	9/16	-	1
4-128812786-C-G	c.1988C>G	p.P663R	Missense	9/16	-	4
4-128812787-A-C	c.1989A>C	p.P663=	Synonymous	9/16	-	2
4-128812787-A-G	c.1989A>G	p.P663=	Synonymous	9/16	-	2
4-128812787-A-T	c.1989A>T	p.P663=	Synonymous	9/16	-	2
4-128812791-T-G	c.1993T>G	p.S665A	Missense	9/16	-	1
4-128812792-C-A	c.1994C>A	p.S665*	Nonsense	9/16	-	1
4-128812792-CA-AT	c.1994_1995delinsAT	p.S665Y	Missense	9/16	-	1
4-128812792-C-G	c.1994C>G	p.S665*	Nonsense	9/16	-	1
4-128812794-C-T	c.1996C>T	p.P666S	Missense	9/16	-	1
4-128812795-C-A	c.1997C>A	p.P666H	Missense	9/16	-	1
4-128812798-C-T	c.2000C>T	p.T667I	Missense	9/16	-	1
4-128812804-AC-GG	c.2006_2007delinsGG	p.N669R	Missense	9/16	-	1
4-128812805-C-A	c.2007C>A	p.N669K	Missense	9/16	-	1
4-128812805-C-G	c.2007C>G	p.N669K	Missense	9/16	-	1
4-128812806-AT-CC	c.2008_2009delinsCC	p.I670P	Missense	9/16	-	1
4-128812809-AG-GC	c.2011_2012delinsGC	p.S671A	Missense	9/16	-	2
4-128812810-G-GT	c.2013dup	p.R672*	Nonsense	9/16	-	1
4-128812811-T-C	c.2013T>C	p.S671=	Synonymous	9/16	-	1
4-128812818-AG-GC	c.2020_2021delinsGC	p.S674A	Missense	9/16	-	2
4-128812827-A-T	c.2029A>T	p.N677Y	Missense	9/16	-	2
4-128812833-C-A	c.2035C>A	p.P679T	Missense	9/16	-	1
4-128813520-A-G	c.2039A>G	p.E680G	Missense	10/16	-	1
4-128813522-AA-GC	c.2041_2042delinsGC	p.K681A	Missense	10/16	-	1
4-128813522-A-G	c.2041A>G	p.K681E	Missense	10/16	-	2
4-128813526-A-G	c.2045A>G	p.Y682C	Missense	10/16	-	1
4-128813531-CG-GC	c.2050_2051delinsGC	p.R684A	Missense	10/16	-	1
4-128813531-C-T	c.2050C>T	p.R684*	Nonsense	10/16	-	2
4-128813535-A-C	c.2054A>C	p.K685T	Missense	10/16	-	1
4-128813540-C-A	c.2059C>A	p.Q687K	Missense	10/16	-	1
4-128813540-C-T	c.2059C>T	p.Q687*	Nonsense	10/16	-	1
4-128813544-A-G	c.2063A>G	p.Y688C	Missense	10/16	-	1
4-128813547-C-G	c.2066C>G	p.A689G	Missense	10/16	-	1
4-128813556-T-A	c.2075T>A	p.F692Y	Missense	10/16	-	1
4-128813571-G-C	c.2090G>C	p.R697T	Missense	10/16	-	1
4-128813584-C-A	c.2103C>A	p.P701=	Synonymous	10/16	-	2
4-128813589-T-C	c.2108T>C	p.I703T	Missense	10/16	-	1
4-128813590-C-A	c.2109C>A	p.I703=	Synonymous	10/16	-	1
4-128813590-C-T	c.2109C>T	p.I703=	Synonymous	10/16	-	1
4-128813591-A-G	c.2110A>G	p.T704A	Missense	10/16	-	1
4-128813592-CT-AG	c.2111_2112inv	p.T704K	Missense	10/16	-	1
4-128813595-A-T	c.2114A>T	p.Y705F	Missense	10/16	-	1
4-128813596-T-C	c.2115T>C	p.Y705=	Synonymous	10/16	-	1
4-128813600-A-G	c.2119A>G	p.T707A	Missense	10/16	-	1
4-128813601-C-CT	c.2120_2121insT	p.R708Kfs*4	Frameshift	10/16	-	1
4-128813601-C-G	c.2120C>G	p.T707R	Missense	10/16	-	1
4-128813603-A-G	c.2122A>G	p.R708G	Missense	10/16	-	2
4-128813603-AGA-TGT	c.2122_2124delinsTGT	p.R708C	Missense	10/16	-	1
4-128813603-AG-CT	c.2122_2123inv	p.R708L	Missense	10/16	-	1
4-128813607-A-G	c.2126A>G	p.Y709C	Missense	10/16	-	1
4-128813609-G-A	c.2128G>A	p.A710T	Missense	10/16	-	1
4-128813612-AA-GC	c.2131_2132delinsGC	p.K711A	Missense	10/16	-	1
4-128813618-AT-A	c.2141del	p.L714*	Frameshift	10/16	-	1
4-128813623-G-C	c.2142G>C	p.L714F	Missense	10/16	-	1
4-128813624-A-G	c.2143A>G	p.M715V	Missense	10/16	-	2
4-128813626-G-A	c.2145G>A	p.M715I	Missense	10/16	-	1
4-128813627-G-A	c.2146G>A	p.E716K	Missense	10/16	-	1
4-128813628-A-AT	c.2147_2148insT	p.E716Dfs*7	Frameshift	10/16	-	1
4-128813630-AA-GC	c.2149_2150delinsGC	p.N717A	Missense	10/16	-	1
4-128813634-C-A	c.2153C>A	p.S718Y	Missense	10/16	-	2
4-128813638-T-A	c.2157T>A	p.P719=	Synonymous	10/16	-	1
4-128813638-T-C	c.2157T>C	p.P719=	Synonymous	10/16	-	1
4-128813638-T-G	c.2157T>G	p.P719=	Synonymous	10/16	-	1
4-128813639-G-A	c.2158G>A	p.G720S	Missense	10/16	-	1
4-128813640-G-A	c.2159G>A	p.G720D	Missense	10/16	-	1
4-128813645-G-A	c.2164G>A	p.D722N	Missense	10/16	-	1
4-128813651-G-A	c.2170G>A	p.E724K	Missense	10/16	-	1
4-128813651-G-C	c.2170G>C	p.E724Q	Missense	10/16	-	1
4-128813652-A-G	c.2171A>G	p.E724G	Missense	10/16	-	2
4-128813653-G-A	c.2172G>A	p.E724=	Synonymous	10/16	-	1
4-128813661-T-G	c.2180T>G	p.F727C	Missense	10/16	-	1
4-128813663-T-C	c.2182T>C	p.Y728H	Missense	10/16	-	1
4-128813667-A-G	c.2186A>G	p.D729G	Missense	10/16	-	1
4-128813726-G-A	c.2188+57G>A	-	IntronicSNV	-	10/15	1
4-128814404-G-A	c.2189-36G>A	-	IntronicSNV	-	10/15	4
4-128814440-G-A	c.2189G>A	p.G730E	Missense	11/16	-	1
4-128814440-G-T	c.2189G>T	p.G730V	Missense	11/16	-	1
4-128814441-G-A	c.2190G>A	p.G730=	Synonymous	11/16	-	1
4-128814443-T-A	c.2192T>A	p.V731E	Missense	11/16	-	1
4-128814451-C-A	c.2200C>A	p.H734N	Missense	11/16	-	1
4-128814453-C-T	c.2202C>T	p.H734=	Synonymous	11/16	-	1
4-128814458-C-A	c.2207C>A	p.T736K	Missense	11/16	-	2
4-128814463-G-T	c.2212G>T	p.D738Y	Missense	11/16	-	3
4-128814468-C-T	c.2217C>T	p.F739=	Synonymous	11/16	-	3
4-128814472-C-T	c.2221C>T	p.Q741*	Nonsense	11/16	-	1
4-128814486-G-C	c.2235G>C	p.K745N	Missense	11/16	-	1
4-128814487-A-G	c.2236A>G	p.T746A	Missense	11/16	-	2
4-128814488-CA-TG	c.2237_2238inv	p.T746M	Missense	11/16	-	1
4-128814490-GGG-AGC	c.2239_2241delinsAGC	p.G747S	Missense	11/16	-	1
4-128814492-G-A	c.2241G>A	p.G747=	Synonymous	11/16	-	10
4-128814492-G-C	c.2241G>C	p.G747=	Synonymous	11/16	-	1
4-128814492-G-T	c.2241G>T	p.G747=	Synonymous	11/16	-	1
4-128814494-A-AT	c.2243_2244insT	p.K748Nfs*8	Frameshift	11/16	-	1
4-128814496-T-G	c.2245T>G	p.S749A	Missense	11/16	-	1
4-128814498-T-G	c.2247T>G	p.S749=	Synonymous	11/16	-	2
4-128814499-T-A	c.2248T>A	p.Y750N	Missense	11/16	-	1
4-128814499-TA-GC	c.2248_2249delinsGC	p.Y750A	Missense	11/16	-	1
4-128814502-A-G	c.2251A>G	p.T751A	Missense	11/16	-	3
4-128814502-CACT-C	c.2251_2253del	p.T751del	InFrameDeletion	11/16	-	1
4-128814507-A-C	c.2256A>C	p.L752F	Missense	11/16	-	1
4-128814507-A-T	c.2256A>T	p.L752F	Missense	11/16	-	1
4-128814511-AG-GC	c.2260_2261delinsGC	p.S754A	Missense	11/16	-	1
4-128814517-A-G	c.2266A>G	p.S756G	Missense	11/16	-	1
4-128814517-AG-GC	c.2266_2267delinsGC	p.S756A	Missense	11/16	-	1
4-128814520-G-A	c.2269G>A	p.E757K	Missense	11/16	-	1
4-128814524-T-C	c.2273T>C	p.V758A	Missense	11/16	-	1
4-128814529-AG-GC	c.2278_2279delinsGC	p.S760A	Missense	11/16	-	1
4-128814530-G-T	c.2279G>T	p.S760I	Missense	11/16	-	1
4-128814532-TT-GC	c.2281_2282delinsGC	p.L761A	Missense	11/16	-	1
4-128814536-A-G	c.2285A>G	p.K762R	Missense	11/16	-	2
4-128814538-G-A	c.2287G>A	p.E763K	Missense	11/16	-	1
4-128814545-T-TA	c.2299dup	p.M767Nfs*7	Frameshift	11/16	-	1
4-128814556-A-C	c.2305A>C	p.M769L	Missense	11/16	-	1
4-128814557-T-C	c.2306T>C	p.M769T	Missense	11/16	-	1
4-128814559-G-A	c.2308G>A	p.D770N	Missense	11/16	-	1
4-128814566-C-T	c.2315C>T	p.A772V	Missense	11/16	-	1
4-128814571-G-A	c.2320G>A	p.E774K	Missense	11/16	-	1
4-128814571-G-T	c.2320G>T	p.E774*	Nonsense	11/16	-	2
4-128814669-G-A	c.2324G>A	p.G775D	Missense	12/16	-	1
4-128814674-C-T	c.2329C>T	p.R777C	Missense	12/16	-	2
4-128814675-G-A	c.2330G>A	p.R777H	Missense	12/16	-	1
4-128814677-A-G	c.2332A>G	p.I778V	Missense	12/16	-	3
4-128814679-T-G	c.2334T>G	p.I778M	Missense	12/16	-	1
4-128814681-G-A	c.2336G>A	p.C779Y	Missense	12/16	-	2
4-128814687-C-T	c.2342C>T	p.A781V	Missense	12/16	-	1
4-128814689-C-A	c.2344C>A	p.L782M	Missense	12/16	-	1
4-128814691-G-C	c.2346G>C	p.L782=	Synonymous	12/16	-	2
4-128814696-C-T	c.2351C>T	p.S784F	Missense	12/16	-	1
4-128814700-A-C	c.2355A>C	p.I785=	Synonymous	12/16	-	1
4-128814700-A-G	c.2355A>G	p.I785M	Missense	12/16	-	1
4-128814700-A-T	c.2355A>T	p.I785=	Synonymous	12/16	-	1
4-128814712-G-C	c.2367G>C	p.E789D	Missense	12/16	-	22
4-128814712-G-T	c.2367G>T	p.E789D	Missense	12/16	-	26
4-128814717-G-A	c.2372G>A	p.R791K	Missense	12/16	-	4
4-128814722-A-G	c.2377A>G	p.T793A	Missense	12/16	-	2
4-128814725-AG-CA	c.2380_2381delinsCA	p.R794Q	Missense	12/16	-	2
4-128814726-G-A	c.2381G>A	p.R794K	Missense	12/16	-	1
4-128814727-G-T	c.2382G>T	p.R794S	Missense	12/16	-	1
4-128814728-AG-GC	c.2383_2384delinsGC	p.S795A	Missense	12/16	-	1
4-128814731-G-A	c.2386G>A	p.A796T	Missense	12/16	-	1
4-128814735-C-T	c.2390C>T	p.P797L	Missense	12/16	-	1
4-128814736-C-A	c.2391C>A	p.P797=	Synonymous	12/16	-	1
4-128814736-C-G	c.2391C>G	p.P797=	Synonymous	12/16	-	1
4-128814736-C-T	c.2391C>T	p.P797=	Synonymous	12/16	-	1
4-128814737-T-C	c.2392T>C	p.F798L	Missense	12/16	-	1
4-128814737-T-G	c.2392T>G	p.F798V	Missense	12/16	-	2
4-128814738-T-G	c.2393T>G	p.F798C	Missense	12/16	-	2
4-128814741-T-C	c.2396T>C	p.F799S	Missense	12/16	-	3
4-128814742-C-T	c.2397C>T	p.F799=	Synonymous	12/16	-	1
4-128814746-A-G	c.2401A>G	p.I801V	Missense	12/16	-	2
4-128814752-A-T	c.2407A>T	p.I803L	Missense	12/16	-	1
4-128814897-G-A	c.2423G>A	p.G808D	Missense	13/16	-	2
4-128814901-T-C	c.2427T>C	p.S809=	Synonymous	13/16	-	1
4-128814902-A-G	c.2428A>G	p.T810A	Missense	13/16	-	1
4-128814905-AG-GC	c.2431_2432delinsGC	p.S811A	Missense	13/16	-	1
4-128814905-A-T	c.2431A>T	p.S811C	Missense	13/16	-	1
4-128814907-T-C	c.2433T>C	p.S811=	Synonymous	13/16	-	1
4-128814908-T-G	c.2434T>G	p.S812A	Missense	13/16	-	1
4-128814911-C-T	c.2437C>T	p.P813S	Missense	13/16	-	1
4-128814912-C-G	c.2438C>G	p.P813R	Missense	13/16	-	1
4-128814913-T-C	c.2439T>C	p.P813=	Synonymous	13/16	-	1
4-128814914-A-G	c.2440A>G	p.K814E	Missense	13/16	-	1
4-128814917-G-T	c.2443G>T	p.A815S	Missense	13/16	-	1
4-128814920-T-G	c.2446T>G	p.L816V	Missense	13/16	-	1
4-128814924-C-T	c.2450C>T	p.S817L	Missense	13/16	-	1
4-128814927-C-T	c.2453C>T	p.P818L	Missense	13/16	-	1
4-128814929-C-T	c.2455C>T	p.P819S	Missense	13/16	-	2
4-128814932-CC-TT	c.2458_2459delinsTT	p.P820F	Missense	13/16	-	1
4-128814932-C-T	c.2458C>T	p.P820S	Missense	13/16	-	2
4-128814933-C-T	c.2459C>T	p.P820L	Missense	13/16	-	5
4-128814936-C-T	c.2462C>T	p.S821F	Missense	13/16	-	1
4-128814944-TC-AT	c.2470_2471delinsAT	p.S824I	Missense	13/16	-	1
4-128814944-T-G	c.2470T>G	p.S824A	Missense	13/16	-	1
4-128814947-A-G	c.2473A>G	p.N825D	Missense	13/16	-	2
4-128814954-C-T	c.2480C>T	p.P827L	Missense	13/16	-	1
4-128814956-A-G	c.2482A>G	p.T828A	Missense	13/16	-	1
4-128814959-AGA-CAT	c.2485_2487delinsCAT	p.R829H	Missense	13/16	-	1
4-128814959-AG-CT	c.2485_2486inv	p.R829L	Missense	13/16	-	1
4-128814964-G-A	c.2490G>A	p.E830=	Synonymous	13/16	-	13
4-128814964-G-C	c.2490G>C	p.E830D	Missense	13/16	-	5
4-128814964-G-T	c.2490G>T	p.E830D	Missense	13/16	-	49
4-128814966-G-A	c.2492G>A	p.R831K	Missense	13/16	-	1
4-128814966-G-C	c.2492G>C	p.R831T	Missense	13/16	-	1
4-128814957-CGA-C	c.2493_2494del	p.R831Sfs*10	Frameshift	13/16	-	1
4-128814972-C-A	c.2498C>A	p.S833Y	Missense	13/16	-	1
4-128814985-G-A	c.2511G>A	p.M837I	Missense	13/16	-	1
4-128814997-T-C	c.2523T>C	p.S841=	Synonymous	13/16	-	1
4-128815010-A-C	c.2536A>C	p.T846P	Missense	13/16	-	1
4-128815016-G-A	c.2542G>A	p.A848T	Missense	13/16	-	1
4-128815017-C-T	c.2543C>T	p.A848V	Missense	13/16	-	1
4-128815025-C-T	c.2551C>T	p.L851F	Missense	13/16	-	1
4-128815030-T-C	c.2556T>C	p.N852=	Synonymous	13/16	-	1
4-128815036-T-A	c.2562T>A	p.S854=	Synonymous	13/16	-	1
4-128815037-G-T	c.2562+1G>T	-	IntronicSNV	-	13/15	1
4-128815969-T-A	c.2563-139T>A	-	IntronicSNV	-	13/15	2
4-128816052-A-G	c.2563-56A>G	-	IntronicSNV	-	13/15	1
4-128816114-A-G	c.2569A>G	p.T857A	Missense	14/16	-	1
4-128816117-A-G	c.2572A>G	p.N858D	Missense	14/16	-	1
4-128816125-A-C	c.2580A>C	p.G860=	Synonymous	14/16	-	1
4-128816125-A-G	c.2580A>G	p.G860=	Synonymous	14/16	-	2
4-128816125-A-T	c.2580A>T	p.G860=	Synonymous	14/16	-	1
4-128816127-TT-AA	c.2582_2583inv	p.L861Q	Missense	14/16	-	1
4-128816129-GG-AC	c.2584_2585delinsAC	p.G862T	Missense	14/16	-	1
4-128816132-C-G	c.2587C>G	p.L863V	Missense	14/16	-	1
4-128816135-A-G	c.2590A>G	p.T864A	Missense	14/16	-	1
4-128816136-C-A	c.2591C>A	p.T864K	Missense	14/16	-	1
4-128816138-A-G	c.2593A>G	p.T865A	Missense	14/16	-	2
4-128816146-T-A	c.2601T>A	p.A867=	Synonymous	14/16	-	1
4-128816146-T-C	c.2601T>C	p.A867=	Synonymous	14/16	-	1
4-128816146-T-G	c.2601T>G	p.A867=	Synonymous	14/16	-	1
4-128816151-G-A	c.2606G>A	p.G869E	Missense	14/16	-	1
4-128816151-G-C	c.2606G>C	p.G869A	Missense	14/16	-	1
4-128816153-A-G	c.2608A>G	p.T870A	Missense	14/16	-	1
4-128816154-C-T	c.2609C>T	p.T870I	Missense	14/16	-	1
4-128816156-G-A	c.2611G>A	p.D871N	Missense	14/16	-	1
4-128816159-A-G	c.2614A>G	p.I872V	Missense	14/16	-	1
4-128816162-T-G	c.2617T>G	p.S873A	Missense	14/16	-	1
4-128816165-T-G	c.2620T>G	p.S874A	Missense	14/16	-	1
4-128816166-C-T	c.2621C>T	p.S874F	Missense	14/16	-	1
4-128816178-A-C	c.2633A>C	p.K878T	Missense	14/16	-	1
4-128816189-C-G	c.2644C>G	p.P882A	Missense	14/16	-	1
4-128816195-T-A	c.2650T>A	p.S884T	Missense	14/16	-	1
4-128816198-G-T	c.2653G>T	p.A885S	Missense	14/16	-	1
4-128816199-C-G	c.2654C>G	p.A885G	Missense	14/16	-	1
4-128816201-C-G	c.2656C>G	p.Q886E	Missense	14/16	-	1
4-128816204-C-T	c.2659C>T	p.L887F	Missense	14/16	-	2
4-128816207-T-C	c.2662T>C	p.L888=	Synonymous	14/16	-	1
4-128816207-T-G	c.2662T>G	p.L888V	Missense	14/16	-	1
4-128816209-G-A	c.2664G>A	p.L888=	Synonymous	14/16	-	1
4-128816210-A-G	c.2665A>G	p.K889E	Missense	14/16	-	1
4-128816214-C-A	c.2669C>A	p.S890Y	Missense	14/16	-	1
4-128816214-C-G	c.2669C>G	p.S890C	Missense	14/16	-	3
4-128816235-G-A	c.2690G>A	p.G897D	Missense	14/16	-	3
4-128816236-T-C	c.2691T>C	p.G897=	Synonymous	14/16	-	2
4-128816238-G-T	c.2693G>T	p.W898L	Missense	14/16	-	1
4-128816239-G-C	c.2694G>C	p.W898C	Missense	14/16	-	2
4-128816239-G-T	c.2694G>T	p.W898C	Missense	14/16	-	2
4-128816247-A-T	c.2702A>T	p.Q901L	Missense	14/16	-	1
4-128816260-C-G	c.2703+12C>G	-	IntronicSNV	-	14/15	5
4-128817959-A-G	c.2707A>G	p.T903A	Missense	15/16	-	1
4-128817962-AG-GC	c.2710_2711delinsGC	p.S904A	Missense	15/16	-	1
4-128817966-G-C	c.2714G>C	p.G905A	Missense	15/16	-	1
4-128817968-G-A	c.2716G>A	p.A906T	Missense	15/16	-	1
4-128817971-G-A	c.2719G>A	p.V907M	Missense	15/16	-	1
4-128817976-G-A	c.2724G>A	p.W908*	Nonsense	15/16	-	1
4-128817990-A-G	c.2738A>G	p.D913G	Missense	15/16	-	1
4-128817997-C-T	c.2745C>T	p.S915=	Synonymous	15/16	-	1
4-128817999-A-T	c.2747A>T	p.Q916L	Missense	15/16	-	1
4-128818000-G-C	c.2748G>C	p.Q916H	Missense	15/16	-	1
4-128818000-G-T	c.2748G>T	p.Q916H	Missense	15/16	-	1
4-128818002-T-G	c.2750T>G	p.L917W	Missense	15/16	-	1
4-128818003-G-C	c.2751G>C	p.L917F	Missense	15/16	-	1
4-128818003-G-T	c.2751G>T	p.L917F	Missense	15/16	-	1
4-128818005-T-C	c.2753T>C	p.V918A	Missense	15/16	-	2
4-128818007-G-C	c.2755G>C	p.V919L	Missense	15/16	-	1
4-128818007-G-T	c.2755G>T	p.V919L	Missense	15/16	-	1
4-128818014-C-T	c.2762C>T	p.A921V	Missense	15/16	-	1
4-128818016-G-C	c.2764G>C	p.G922R	Missense	15/16	-	1
4-128818021-G-T	c.2769G>T	p.V923=	Synonymous	15/16	-	2
4-128818022-T-G	c.2770T>G	p.S924A	Missense	15/16	-	1
4-128818025-T-G	c.2773T>G	p.S925A	Missense	15/16	-	1
4-128818028-A-G	c.2776A>G	p.I926V	Missense	15/16	-	1
4-128818030-C-T	c.2778C>T	p.I926=	Synonymous	15/16	-	1
4-128818031-AG-GC	c.2779_2780delinsGC	p.S927A	Missense	15/16	-	1
4-128818035-A-G	c.2783A>G	p.Y928C	Missense	15/16	-	1
4-128818037-A-G	c.2785A>G	p.T929A	Missense	15/16	-	2
4-128818041-C-T	c.2789C>T	p.S930L	Missense	15/16	-	1
4-128818043-C-A	c.2791C>A	p.P931T	Missense	15/16	-	1
4-128818043-C-T	c.2791C>T	p.P931S	Missense	15/16	-	1
4-128818044-C-G	c.2792C>G	p.P931R	Missense	15/16	-	1
4-128818058-A-C	c.2806A>C	p.T936P	Missense	15/16	-	1
4-128818058-A-G	c.2806A>G	p.T936A	Missense	15/16	-	1
4-128818062-G-C	c.2810G>C	p.R937T	Missense	15/16	-	1
4-128818063-G-C	c.2810+1G>C	-	IntronicSNV	-	15/15	1
4-128818246-T-C	c.2810+184T>C	-	IntronicSNV	-	15/15	1
4-128819290-C-T	c.2811-304C>T	-	IntronicSNV	-	15/15	1
4-128819595-T-C	c.2812T>C	p.Y938H	Missense	16/16	-	1
4-128819601-G-C	c.2818G>C	p.E940Q	Missense	16/16	-	2
4-128819601-G-T	c.2818G>T	p.E940*	Nonsense	16/16	-	1
4-128819607-G-C	c.2824G>C	p.E942Q	Missense	16/16	-	2
4-128819610-AAA-CAT	c.2827_2829delinsCAT	p.K943H	Missense	16/16	-	1
4-128819617-C-G	c.2834C>G	p.P945R	Missense	16/16	-	1
4-128819618-A-G	c.2835A>G	p.P945=	Synonymous	16/16	-	5
4-128819621-C-A	c.2838C>A	p.D946E	Missense	16/16	-	1
4-128819624-C-T	c.2841C>T	p.Y947=	Synonymous	16/16	-	2
4-128819633-G-C	c.2850G>C	p.Q950H	Missense	16/16	-	1
4-128819633-G-T	c.2850G>T	p.Q950H	Missense	16/16	-	1
4-128819637-T-G	c.2854T>G	p.L952V	Missense	16/16	-	2
4-128819638-T-A	c.2855T>A	p.L952*	Nonsense	16/16	-	1
4-128819638-T-C	c.2855T>C	p.L952S	Missense	16/16	-	3
4-128819638-T-G	c.2855T>G	p.L952*	Nonsense	16/16	-	1
4-128819644-G-A	c.2861G>A	p.C954Y	Missense	16/16	-	1
4-128819645-T-C	c.2862T>C	p.C954=	Synonymous	16/16	-	1
4-128819649-T-G	c.2866T>G	p.S956A	Missense	16/16	-	1
4-128819652-T-G	c.2869T>G	p.S957A	Missense	16/16	-	1
4-128819653-C-T	c.2870C>T	p.S957F	Missense	16/16	-	2
4-128819663-G-C	c.2880G>C	p.L960F	Missense	16/16	-	3
4-128819663-G-T	c.2880G>T	p.L960F	Missense	16/16	-	1
4-128819668-T-G	c.2885T>G	p.F962C	Missense	16/16	-	1
4-128819671-C-G	c.2888C>G	p.S963C	Missense	16/16	-	3
4-128819676-C-G	c.2893C>G	p.P965A	Missense	16/16	-	1
4-128819677-C-T	c.2894C>T	p.P965L	Missense	16/16	-	1
4-128819681-T-G	c.2898T>G	p.T966=	Synonymous	16/16	-	1