KDM5A

KDM5A lysine demethylase 5A

Annotation transcript: NM_001042603.3

2897 unique variant annotations were identified in 829 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
12-389767-T-C	c.*4855A>G	-	3-UTRSNV	28/28	-	1
12-391277-A-G	c.*3345T>C	-	3-UTRSNV	28/28	-	1
12-393500-T-A	c.*1122A>T	-	3-UTRSNV	28/28	-	1
12-393501-T-A	c.*1121A>T	-	3-UTRSNV	28/28	-	1
12-393804-C-T	c.*818G>A	-	3-UTRSNV	28/28	-	1
12-394397-A-G	c.*225T>C	-	3-UTRSNV	28/28	-	1
12-394626-C-T	c.5069G>A	p.S1690N	Missense	28/28	-	1
12-394628-G-A	c.5067C>T	p.T1689=	Synonymous	28/28	-	1
12-394628-G-C	c.5067C>G	p.T1689=	Synonymous	28/28	-	1
12-394628-G-T	c.5067C>A	p.T1689=	Synonymous	28/28	-	1
12-394629-G-A	c.5066C>T	p.T1689I	Missense	28/28	-	2
12-394629-G-T	c.5066C>A	p.T1689N	Missense	28/28	-	2
12-394630-T-C	c.5065A>G	p.T1689A	Missense	28/28	-	1
12-394639-G-GATCC	c.5052_5055dup	p.L1686Gfs*3	Frameshift	28/28	-	1
12-394640-A-C	c.5055T>G	p.D1685E	Missense	28/28	-	2
12-394642-C-A	c.5053G>T	p.D1685Y	Missense	28/28	-	1
12-394642-C-G	c.5053G>C	p.D1685H	Missense	28/28	-	2
12-394642-C-T	c.5053G>A	p.D1685N	Missense	28/28	-	2
12-394643-C-A	c.5052G>T	p.E1684D	Missense	28/28	-	1
12-394644-T-A	c.5051A>T	p.E1684V	Missense	28/28	-	2
12-394645-C-A	c.5050G>T	p.E1684*	Nonsense	28/28	-	1
12-394646-C-A	c.5049G>T	p.M1683I	Missense	28/28	-	2
12-394648-T-C	c.5047A>G	p.M1683V	Missense	28/28	-	8
12-394649-T-G	c.5046A>C	p.P1682=	Synonymous	28/28	-	1
12-394650-G-A	c.5045C>T	p.P1682L	Missense	28/28	-	2
12-394651-G-C	c.5044C>G	p.P1682A	Missense	28/28	-	1
12-394653-A-G	c.5042T>C	p.L1681P	Missense	28/28	-	4
12-394655-T-C	c.5040A>G	p.K1680=	Synonymous	28/28	-	2
12-394656-T-C	c.5039A>G	p.K1680R	Missense	28/28	-	3
12-394657-T-G	c.5038A>C	p.K1680Q	Missense	28/28	-	2
12-394662-C-T	c.5033G>A	p.S1678N	Missense	28/28	-	1
12-394666-T-C	c.5029A>G	p.M1677V	Missense	28/28	-	2
12-394669-T-C	c.5026A>G	p.I1676V	Missense	28/28	-	1
12-394670-G-A	c.5025C>T	p.F1675=	Synonymous	28/28	-	2
12-394670-G-C	c.5025C>G	p.F1675L	Missense	28/28	-	2
12-394670-G-T	c.5025C>A	p.F1675L	Missense	28/28	-	4
12-394672-A-G	c.5023T>C	p.F1675L	Missense	28/28	-	1
12-394672-A-T	c.5023T>A	p.F1675I	Missense	28/28	-	1
12-394674-G-C	c.5021C>G	p.S1674C	Missense	28/28	-	2
12-394675-A-C	c.5020T>G	p.S1674A	Missense	28/28	-	2
12-394675-A-T	c.5020T>A	p.S1674T	Missense	28/28	-	1
12-394678-G-A	c.5017C>T	p.P1673S	Missense	28/28	-	2
12-394678-G-C	c.5017C>G	p.P1673A	Missense	28/28	-	3
12-394679-A-T	c.5016T>A	p.P1672=	Synonymous	28/28	-	1
12-394684-G-A	c.5011C>T	p.P1671S	Missense	28/28	-	2
12-394684-G-T	c.5011C>A	p.P1671T	Missense	28/28	-	4
12-394689-G-A	c.5006C>T	p.P1669L	Missense	28/28	-	2
12-394689-G-C	c.5006C>G	p.P1669R	Missense	28/28	-	2
12-394695-G-A	c.5000C>T	p.P1667L	Missense	28/28	-	2
12-394696-G-A	c.4999C>T	p.P1667S	Missense	28/28	-	1
12-394697-G-A	c.4998C>T	p.S1666=	Synonymous	28/28	-	4
12-394698-C-A	c.4997G>T	p.S1666I	Missense	28/28	-	1
12-394698-CT-AA	c.4996_4997delinsTT	p.S1666F	Missense	28/28	-	1
12-394701-A-T	c.4994T>A	p.V1665D	Missense	28/28	-	2
12-394707-C-A	c.4988G>T	p.G1663V	Missense	28/28	-	1
12-394707-C-T	c.4988G>A	p.G1663E	Missense	28/28	-	1
12-394708-C-A	c.4987G>T	p.G1663W	Missense	28/28	-	2
12-394708-C-T	c.4987G>A	p.G1663R	Missense	28/28	-	3
12-394709-C-G	c.4986G>C	p.Q1662H	Missense	28/28	-	1
12-394711-G-A	c.4984C>T	p.Q1662*	Nonsense	28/28	-	1
12-394712-C-A	c.4983G>T	p.K1661N	Missense	28/28	-	1
12-394714-T-C	c.4981A>G	p.K1661E	Missense	28/28	-	2
12-394717-T-C	c.4978A>G	p.K1660E	Missense	28/28	-	1
12-394720-C-T	c.4975G>A	p.A1659T	Missense	28/28	-	1
12-394724-G-A	c.4971C>T	p.N1657=	Synonymous	28/28	-	1
12-394739-A-G	c.4956T>C	p.D1652=	Synonymous	28/28	-	1
12-394739-ATC-TTA	c.4954_4956delinsTAA	p.D1652*	Nonsense	28/28	-	1
12-394741-C-G	c.4954G>C	p.D1652H	Missense	28/28	-	1
12-394749-T-A	c.4946A>T	p.E1649V	Missense	28/28	-	3
12-394751-A-C	c.4944T>G	p.A1648=	Synonymous	28/28	-	2
12-394751-A-G	c.4944T>C	p.A1648=	Synonymous	28/28	-	2
12-394751-A-T	c.4944T>A	p.A1648=	Synonymous	28/28	-	3
12-394754-C-T	c.4941G>A	p.M1647I	Missense	28/28	-	2
12-394762-G-A	c.4933C>T	p.P1645S	Missense	28/28	-	8
12-394762-G-C	c.4933C>G	p.P1645A	Missense	28/28	-	7
12-394764-G-A	c.4931C>T	p.S1644F	Missense	28/28	-	1
12-394764-G-C	c.4931C>G	p.S1644C	Missense	28/28	-	1
12-394767-A-G	c.4928T>C	p.V1643A	Missense	28/28	-	1
12-394768-C-A	c.4927G>T	p.V1643L	Missense	28/28	-	1
12-394768-C-T	c.4927G>A	p.V1643I	Missense	28/28	-	2
12-394771-C-G	c.4924G>C	p.G1642R	Missense	28/28	-	2
12-394774-C-A	c.4921G>T	p.V1641L	Missense	28/28	-	1
12-394774-C-G	c.4921G>C	p.V1641L	Missense	28/28	-	1
12-394774-C-T	c.4921G>A	p.V1641M	Missense	28/28	-	1
12-394776-C-CA	c.4918dup	p.C1640Lfs*10	Frameshift	28/28	-	1
12-394787-A-C	c.4908T>G	p.F1636L	Missense	28/28	-	1
12-394789-AC-A	c.4905del	p.W1635Cfs*22	Frameshift	28/28	-	1
12-394791-CA-GC	c.4903_4904delinsGC	p.W1635A	Missense	28/28	-	1
12-394794-T-G	c.4901A>C	p.E1634A	Missense	28/28	-	1
12-394795-C-G	c.4900G>C	p.E1634Q	Missense	28/28	-	1
12-394797-T-G	c.4898A>C	p.D1633A	Missense	28/28	-	1
12-394803-C-T	c.4892G>A	p.G1631D	Missense	28/28	-	1
12-394804-C-T	c.4891G>A	p.G1631S	Missense	28/28	-	1
12-394806-C-A	c.4889G>T	p.G1630V	Missense	28/28	-	1
12-394806-C-G	c.4889G>C	p.G1630A	Missense	28/28	-	1
12-394806-C-T	c.4889G>A	p.G1630D	Missense	28/28	-	2
12-394809-T-G	c.4886A>C	p.D1629A	Missense	28/28	-	1
12-394810-C-T	c.4885G>A	p.D1629N	Missense	28/28	-	1
12-394814-T-C	c.4881A>G	p.Q1627=	Synonymous	28/28	-	1
12-394820-C-T	c.4875G>A	p.W1625*	Nonsense	28/28	-	2
12-394821-CA-GC	c.4873_4874delinsGC	p.W1625A	Missense	28/28	-	4
12-394821-C-T	c.4874G>A	p.W1625*	Nonsense	28/28	-	1
12-394824-T-G	c.4871A>C	p.D1624A	Missense	28/28	-	1
12-394825-C-G	c.4870G>C	p.D1624H	Missense	28/28	-	1
12-394825-C-T	c.4870G>A	p.D1624N	Missense	28/28	-	1
12-394828-C-A	c.4867G>T	p.V1623L	Missense	28/28	-	1
12-396238-G-A	c.4867-1410C>T	-	IntronicSNV	-	27/27	1
12-396677-A-G	c.4867-1849T>C	-	IntronicSNV	-	27/27	1
12-401893-C-A	c.4866+32G>T	-	IntronicSNV	-	27/27	1
12-401926-TT-GC	c.4864_4865delinsGC	p.K1622A	Missense	27/28	-	1
12-401932-TT-GC	c.4858_4859delinsGC	p.K1620A	Missense	27/28	-	1
12-401935-C-A	c.4856G>T	p.C1619F	Missense	27/28	-	2
12-401941-C-T	c.4850G>A	p.R1617K	Missense	27/28	-	1
12-401943-T-G	c.4848A>C	p.Q1616H	Missense	27/28	-	1
12-401948-A-G	c.4843T>C	p.C1615R	Missense	27/28	-	3
12-401955-T-A	c.4836A>T	p.A1612=	Synonymous	27/28	-	1
12-401957-C-A	c.4834G>T	p.A1612S	Missense	27/28	-	1
12-401958-T-G	c.4833A>C	p.A1611=	Synonymous	27/28	-	2
12-401960-C-G	c.4831G>C	p.A1611P	Missense	27/28	-	1
12-401960-C-T	c.4831G>A	p.A1611T	Missense	27/28	-	4
12-401962-C-T	c.4829G>A	p.C1610Y	Missense	27/28	-	1
12-401965-A-C	c.4826T>G	p.V1609G	Missense	27/28	-	1
12-401972-T-C	c.4819A>G	p.N1607D	Missense	27/28	-	1
12-401976-A-T	c.4815T>A	p.D1605E	Missense	27/28	-	1
12-401978-C-T	c.4813G>A	p.D1605N	Missense	27/28	-	1
12-401979-A-C	c.4812T>G	p.D1604E	Missense	27/28	-	1
12-401979-A-G	c.4812T>C	p.D1604=	Synonymous	27/28	-	1
12-401980-T-A	c.4811A>T	p.D1604V	Missense	27/28	-	1
12-401981-C-T	c.4810G>A	p.D1604N	Missense	27/28	-	1
12-401983-G-C	c.4808C>G	p.S1603C	Missense	27/28	-	3
12-401986-T-C	c.4805A>G	p.E1602G	Missense	27/28	-	1
12-401987-C-T	c.4804G>A	p.E1602K	Missense	27/28	-	1
12-401993-C-A	c.4798G>T	p.A1600S	Missense	27/28	-	1
12-402000-C-A	c.4791G>T	p.W1597C	Missense	27/28	-	1
12-402000-C-G	c.4791G>C	p.W1597C	Missense	27/28	-	1
12-402000-C-T	c.4791G>A	p.W1597*	Nonsense	27/28	-	1
12-402001-C-T	c.4790G>A	p.W1597*	Nonsense	27/28	-	1
12-402006-A-G	c.4785T>C	p.Y1595=	Synonymous	27/28	-	1
12-402007-T-C	c.4784A>G	p.Y1595C	Missense	27/28	-	1
12-402008-A-G	c.4783T>C	p.Y1595H	Missense	27/28	-	1
12-402013-G-C	c.4778C>G	p.S1593*	Nonsense	27/28	-	1
12-402013-G-T	c.4778C>A	p.S1593*	Nonsense	27/28	-	1
12-402016-G-A	c.4775C>T	p.P1592L	Missense	27/28	-	4
12-402017-G-A	c.4774C>T	p.P1592S	Missense	27/28	-	1
12-402031-T-C	c.4760A>G	p.K1587R	Missense	27/28	-	3
12-402032-T-TA	c.4758_4759insT	p.K1587*	Nonsense	27/28	-	1
12-402030-C-CT	c.4760dup	p.V1588Gfs*9	Frameshift	27/28	-	1
12-402030-CT-C	c.4760del	p.K1587Rfs*37	Frameshift	27/28	-	1
12-402038-C-G	c.4753G>C	p.E1585Q	Missense	27/28	-	1
12-402038-C-T	c.4753G>A	p.E1585K	Missense	27/28	-	1
12-402039-T-C	c.4752A>G	p.R1584=	Synonymous	27/28	-	2
12-402041-T-G	c.4750A>C	p.R1584=	Synonymous	27/28	-	2
12-402040-C-T	c.4751G>A	p.R1584K	Missense	27/28	-	2
12-402043-T-C	c.4748A>G	p.K1583R	Missense	27/28	-	1
12-402045-C-A	c.4746G>T	p.K1582N	Missense	27/28	-	3
12-402045-C-G	c.4746G>C	p.K1582N	Missense	27/28	-	1
12-402050-C-G	c.4741G>C	p.E1581Q	Missense	27/28	-	1
12-402050-C-T	c.4741G>A	p.E1581K	Missense	27/28	-	1
12-402053-T-C	c.4738A>G	p.T1580A	Missense	27/28	-	1
12-402054-G-T	c.4737C>A	p.S1579R	Missense	27/28	-	1
12-402057-C-G	c.4734G>C	p.E1578D	Missense	27/28	-	3
12-402057-C-T	c.4734G>A	p.E1578=	Synonymous	27/28	-	1
12-402058-T-A	c.4733A>T	p.E1578V	Missense	27/28	-	1
12-402062-TTC-T	c.4728_4729del	p.K1577Rfs*4	Frameshift	27/28	-	1
12-402067-A-G	c.4724T>C	p.L1575P	Missense	27/28	-	1
12-402070-T-G	c.4721A>C	p.E1574A	Missense	27/28	-	1
12-402071-C-G	c.4720G>C	p.E1574Q	Missense	27/28	-	1
12-402074-C-T	c.4717G>A	p.V1573I	Missense	27/28	-	1
12-402076-T-C	c.4715A>G	p.K1572R	Missense	27/28	-	1
12-402080-C-G	c.4711G>C	p.A1571P	Missense	27/28	-	1
12-402089-C-A	c.4702G>T	p.A1568S	Missense	27/28	-	1
12-402090-C-A	c.4701G>T	p.K1567N	Missense	27/28	-	2
12-402090-C-G	c.4701G>C	p.K1567N	Missense	27/28	-	1
12-402090-C-T	c.4701G>A	p.K1567=	Synonymous	27/28	-	1
12-402092-TCTC-T	c.4696_4698del	p.E1566del	InFrameDeletion	27/28	-	1
12-402095-C-G	c.4696G>C	p.E1566Q	Missense	27/28	-	2
12-402095-C-T	c.4696G>A	p.E1566K	Missense	27/28	-	1
12-402099-C-A	c.4692G>T	p.K1564N	Missense	27/28	-	2
12-402099-C-G	c.4692G>C	p.K1564N	Missense	27/28	-	2
12-402105-C-A	c.4686G>T	p.K1562N	Missense	27/28	-	1
12-402105-C-G	c.4686G>C	p.K1562N	Missense	27/28	-	1
12-402105-C-T	c.4686G>A	p.K1562=	Synonymous	27/28	-	1
12-402106-T-G	c.4685A>C	p.K1562T	Missense	27/28	-	1
12-402107-T-C	c.4684A>G	p.K1562E	Missense	27/28	-	1
12-402109-C-A	c.4682G>T	p.R1561I	Missense	27/28	-	4
12-402109-C-T	c.4682G>A	p.R1561K	Missense	27/28	-	2
12-402113-C-T	c.4678G>A	p.E1560K	Missense	27/28	-	2
12-402116-C-CAAATCGGAAGAGCACACGTCTGAACTCCAGTCACCAGATCTGATCTCGTA	c.4674_4675insTACGAGATCAGATCTGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATTT	p.E1559Yfs*35	Frameshift	27/28	-	1
12-402116-C-T	c.4675G>A	p.E1559K	Missense	27/28	-	1
12-402118-T-A	c.4673A>T	p.E1558V	Missense	27/28	-	7
12-402122-T-C	c.4669A>G	p.K1557E	Missense	27/28	-	1
12-402128-GT-G	c.4662del	p.K1554Nfs*2	Frameshift	27/28	-	1
12-402132-C-A	c.4659G>T	p.K1553N	Missense	27/28	-	1
12-402136-G-A	c.4655C>T	p.A1552V	Missense	27/28	-	1
12-402137-C-T	c.4654G>A	p.A1552T	Missense	27/28	-	1
12-402140-G-C	c.4651C>G	p.L1551V	Missense	27/28	-	1
12-402151-T-C	c.4640A>G	p.E1547G	Missense	27/28	-	2
12-402152-C-G	c.4639G>C	p.E1547Q	Missense	27/28	-	1
12-402155-T-C	c.4636A>G	p.K1546E	Missense	27/28	-	2
12-402157-G-A	c.4634C>T	p.S1545L	Missense	27/28	-	3
12-402158-A-C	c.4633T>G	p.S1545A	Missense	27/28	-	1
12-402164-C-G	c.4627G>C	p.D1543H	Missense	27/28	-	1
12-402167-C-A	c.4624G>T	p.A1542S	Missense	27/28	-	1
12-402169-C-T	c.4622G>A	p.G1541D	Missense	27/28	-	1
12-402170-C-A	c.4621G>T	p.G1541C	Missense	27/28	-	1
12-402172-A-C	c.4619T>G	p.L1540*	Nonsense	27/28	-	4
12-402172-A-T	c.4619T>A	p.L1540*	Nonsense	27/28	-	3
12-402173-A-C	c.4618T>G	p.L1540V	Missense	27/28	-	1
12-402178-AA-GG	c.4612_4613delinsCC	p.L1538P	Missense	27/28	-	1
12-402178-A-T	c.4613T>A	p.L1538*	Nonsense	27/28	-	1
12-402177-T-C	c.4614A>G	p.L1538=	Synonymous	27/28	-	1
12-402179-A-G	c.4612T>C	p.L1538=	Synonymous	27/28	-	1
12-402181-T-G	c.4610A>C	p.K1537T	Missense	27/28	-	1
12-402183-C-A	c.4608G>T	p.K1536N	Missense	27/28	-	1
12-402183-C-G	c.4608G>C	p.K1536N	Missense	27/28	-	1
12-402187-T-A	c.4604A>T	p.K1535M	Missense	27/28	-	2
12-402190-C-A	c.4601G>T	p.R1534I	Missense	27/28	-	2
12-402190-C-T	c.4601G>A	p.R1534K	Missense	27/28	-	1
12-402194-G-C	c.4597C>G	p.P1533A	Missense	27/28	-	1
12-402196-T-C	c.4595A>G	p.K1532R	Missense	27/28	-	1
12-402196-T-G	c.4595A>C	p.K1532T	Missense	27/28	-	1
12-402199-T-A	c.4592A>T	p.D1531V	Missense	27/28	-	2
12-402200-C-A	c.4591G>T	p.D1531Y	Missense	27/28	-	2
12-402203-T-A	c.4588A>T	p.M1530L	Missense	27/28	-	1
12-402203-T-C	c.4588A>G	p.M1530V	Missense	27/28	-	1
12-402204-T-A	c.4587A>T	p.K1529N	Missense	27/28	-	1
12-402204-T-G	c.4587A>C	p.K1529N	Missense	27/28	-	1
12-402213-C-A	c.4578G>T	p.E1526D	Missense	27/28	-	1
12-402213-C-G	c.4578G>C	p.E1526D	Missense	27/28	-	2
12-402216-C-T	c.4575G>A	p.K1525=	Synonymous	27/28	-	2
12-402221-A-T	c.4570T>A	p.S1524T	Missense	27/28	-	1
12-402222-C-T	c.4569G>A	p.K1523=	Synonymous	27/28	-	1
12-402223-T-C	c.4568A>G	p.K1523R	Missense	27/28	-	1
12-402226-T-A	c.4565A>T	p.Q1522L	Missense	27/28	-	1
12-402239-C-T	c.4552G>A	p.G1518R	Missense	27/28	-	1
12-402244-A-C	c.4547T>G	p.L1516R	Missense	27/28	-	1
12-402245-G-A	c.4546C>T	p.L1516F	Missense	27/28	-	1
12-402245-G-C	c.4546C>G	p.L1516V	Missense	27/28	-	1
12-402246-T-G	c.4545A>C	p.Q1515H	Missense	27/28	-	1
12-402251-C-A	c.4540G>T	p.E1514*	Nonsense	27/28	-	1
12-402260-C-A	c.4531G>T	p.E1511*	Nonsense	27/28	-	2
12-402268-C-A	c.4523G>T	p.R1508L	Missense	27/28	-	2
12-402268-C-T	c.4523G>A	p.R1508Q	Missense	27/28	-	6
12-402269-G-A	c.4522C>T	p.R1508W	Missense	27/28	-	8
12-402274-C-A	c.4517G>T	p.R1506L	Missense	27/28	-	2
12-402274-C-T	c.4517G>A	p.R1506Q	Missense	27/28	-	2
12-402275-G-A	c.4516C>T	p.R1506W	Missense	27/28	-	1
12-402276-T-C	c.4515A>G	p.K1505=	Synonymous	27/28	-	1
12-402278-T-G	c.4513A>C	p.K1505Q	Missense	27/28	-	1
12-402279-C-T	c.4512G>A	p.K1504=	Synonymous	27/28	-	1
12-402280-T-A	c.4511A>T	p.K1504M	Missense	27/28	-	1
12-402286-G-A	c.4505C>T	p.S1502L	Missense	27/28	-	2
12-402292-T-C	c.4499A>G	p.D1500G	Missense	27/28	-	1
12-402293-C-G	c.4498G>C	p.D1500H	Missense	27/28	-	2
12-402294-C-A	c.4497G>T	p.K1499N	Missense	27/28	-	1
12-402294-C-T	c.4497G>A	p.K1499=	Synonymous	27/28	-	1
12-402295-T-C	c.4496A>G	p.K1499R	Missense	27/28	-	2
12-402298-C-G	c.4493G>C	p.G1498A	Missense	27/28	-	1
12-402303-C-T	c.4488G>A	p.V1496=	Synonymous	27/28	-	1
12-402304-A-C	c.4487T>G	p.V1496G	Missense	27/28	-	1
12-402304-A-G	c.4487T>C	p.V1496A	Missense	27/28	-	1
12-402305-C-T	c.4486G>A	p.V1496M	Missense	27/28	-	2
12-402307-T-G	c.4484A>C	p.K1495T	Missense	27/28	-	3
12-402319-T-G	c.4472A>C	p.E1491A	Missense	27/28	-	1
12-402321-T-G	c.4470A>C	p.E1490D	Missense	27/28	-	1
12-402323-C-A	c.4468G>T	p.E1490*	Nonsense	27/28	-	2
12-402323-C-T	c.4468G>A	p.E1490K	Missense	27/28	-	2
12-402324-C-A	c.4467G>T	p.M1489I	Missense	27/28	-	1
12-402324-C-G	c.4467G>C	p.M1489I	Missense	27/28	-	1
12-402324-C-T	c.4467G>A	p.M1489I	Missense	27/28	-	2
12-402325-A-G	c.4466T>C	p.M1489T	Missense	27/28	-	2
12-402326-T-C	c.4465A>G	p.M1489V	Missense	27/28	-	3
12-402328-C-A	c.4463G>T	p.S1488I	Missense	27/28	-	1
12-402328-C-G	c.4463G>C	p.S1488T	Missense	27/28	-	2
12-402331-T-C	c.4460A>G	p.D1487G	Missense	27/28	-	1
12-402335-C-T	c.4456G>A	p.D1486N	Missense	27/28	-	1
12-404424-G-A	c.4455+315C>T	-	IntronicSNV	-	26/27	1
12-404430-G-A	c.4455+309C>T	-	IntronicSNV	-	26/27	1
12-404431-G-A	c.4455+308C>T	-	IntronicSNV	-	26/27	1
12-404639-T-A	c.4455+100A>T	-	IntronicSNV	-	26/27	1
12-404733-C-A	c.4455+6G>T	-	IntronicSNV	-	26/27	1
12-404744-T-C	c.4450A>G	p.M1484V	Missense	26/28	-	1
12-404745-G-A	c.4449C>T	p.I1483=	Synonymous	26/28	-	1
12-404746-A-C	c.4448T>G	p.I1483S	Missense	26/28	-	1
12-404749-T-C	c.4445A>G	p.H1482R	Missense	26/28	-	1
12-404749-T-G	c.4445A>C	p.H1482P	Missense	26/28	-	1
12-404750-G-A	c.4444C>T	p.H1482Y	Missense	26/28	-	1
12-404756-A-C	c.4438T>G	p.F1480V	Missense	26/28	-	1
12-404758-C-T	c.4436G>A	p.R1479K	Missense	26/28	-	2
12-404761-T-C	c.4433A>G	p.D1478G	Missense	26/28	-	2
12-404763-T-A	c.4431A>T	p.E1477D	Missense	26/28	-	1
12-404763-T-G	c.4431A>C	p.E1477D	Missense	26/28	-	1
12-404772-T-A	c.4422A>T	p.P1474=	Synonymous	26/28	-	1
12-404772-T-C	c.4422A>G	p.P1474=	Synonymous	26/28	-	1
12-404772-T-G	c.4422A>C	p.P1474=	Synonymous	26/28	-	1
12-404772-TGG-T	c.4420_4421del	p.P1474Tfs*3	Frameshift	26/28	-	4
12-404774-G-A	c.4420C>T	p.P1474S	Missense	26/28	-	1
12-404774-G-C	c.4420C>G	p.P1474A	Missense	26/28	-	1
12-404774-G-T	c.4420C>A	p.P1474T	Missense	26/28	-	9
12-404779-G-T	c.4415C>A	p.T1472K	Missense	26/28	-	2
12-404780-T-C	c.4414A>G	p.T1472A	Missense	26/28	-	1
12-404781-TGG-T	c.4412_4413del	p.A1471Dfs*6	Frameshift	26/28	-	1
12-404783-C-A	c.4411G>T	p.A1471S	Missense	26/28	-	1
12-404783-C-T	c.4411G>A	p.A1471T	Missense	26/28	-	2
12-404786-G-A	c.4408C>T	p.Q1470*	Nonsense	26/28	-	1
12-404794-C-A	c.4400G>T	p.R1467L	Missense	26/28	-	1
12-404794-C-T	c.4400G>A	p.R1467Q	Missense	26/28	-	4
12-404795-G-A	c.4399C>T	p.R1467W	Missense	26/28	-	2
12-404795-G-T	c.4399C>A	p.R1467=	Synonymous	26/28	-	1
12-404796-C-T	c.4398G>A	p.W1466*	Nonsense	26/28	-	3
12-404797-C-T	c.4397G>A	p.W1466*	Nonsense	26/28	-	2
12-404798-A-G	c.4396T>C	p.W1466R	Missense	26/28	-	1
12-404799-T-C	c.4395A>G	p.I1465M	Missense	26/28	-	1
12-404804-G-A	c.4390C>T	p.H1464Y	Missense	26/28	-	1
12-404805-T-A	c.4389A>T	p.Q1463H	Missense	26/28	-	1
12-404809-G-C	c.4385C>G	p.T1462S	Missense	26/28	-	1
12-404809-G-T	c.4385C>A	p.T1462N	Missense	26/28	-	1
12-404810-T-G	c.4384A>C	p.T1462P	Missense	26/28	-	1
12-404813-C-G	c.4381G>C	p.E1461Q	Missense	26/28	-	1
12-404813-C-T	c.4381G>A	p.E1461K	Missense	26/28	-	3
12-404814-G-A	c.4380C>T	p.D1460=	Synonymous	26/28	-	1
12-404814-G-T	c.4380C>A	p.D1460E	Missense	26/28	-	1
12-404819-G-C	c.4375C>G	p.L1459V	Missense	26/28	-	1
12-404820-A-C	c.4374T>G	p.S1458=	Synonymous	26/28	-	1
12-404820-A-G	c.4374T>C	p.S1458=	Synonymous	26/28	-	1
12-404820-A-T	c.4374T>A	p.S1458=	Synonymous	26/28	-	1
12-404825-C-T	c.4369G>A	p.V1457I	Missense	26/28	-	3
12-404828-C-A	c.4366G>T	p.E1456*	Nonsense	26/28	-	2
12-404834-G-A	c.4360C>T	p.L1454F	Missense	26/28	-	1
12-404837-C-T	c.4357G>A	p.D1453N	Missense	26/28	-	2
12-404839-C-G	c.4355G>C	p.G1452A	Missense	26/28	-	1
12-404839-C-T	c.4355G>A	p.G1452E	Missense	26/28	-	3
12-404842-A-G	c.4352T>C	p.V1451A	Missense	26/28	-	1
12-404843-C-T	c.4351G>A	p.V1451I	Missense	26/28	-	5
12-404846-T-C	c.4348A>G	p.M1450V	Missense	26/28	-	1
12-404848-A-C	c.4346T>G	p.M1449R	Missense	26/28	-	1
12-404848-A-G	c.4346T>C	p.M1449T	Missense	26/28	-	2
12-404849-T-C	c.4345A>G	p.M1449V	Missense	26/28	-	1
12-404852-G-A	c.4342C>T	p.L1448F	Missense	26/28	-	4
12-404858-C-G	c.4336G>C	p.E1446Q	Missense	26/28	-	6
12-404859-C-A	c.4335G>T	p.L1445=	Synonymous	26/28	-	1
12-404859-CAG-AAA	c.4333_4335delinsTTT	p.L1445F	Missense	26/28	-	1
12-404859-C-G	c.4335G>C	p.L1445=	Synonymous	26/28	-	1
12-404859-C-T	c.4335G>A	p.L1445=	Synonymous	26/28	-	1
12-404861-G-A	c.4333C>T	p.L1445=	Synonymous	26/28	-	1
12-404861-G-C	c.4333C>G	p.L1445V	Missense	26/28	-	1
12-404863-T-C	c.4331A>G	p.Q1444R	Missense	26/28	-	1
12-404865-T-A	c.4329A>T	p.A1443=	Synonymous	26/28	-	1
12-404865-T-C	c.4329A>G	p.A1443=	Synonymous	26/28	-	1
12-404865-T-G	c.4329A>C	p.A1443=	Synonymous	26/28	-	1
12-404867-C-T	c.4327G>A	p.A1443T	Missense	26/28	-	1
12-404880-T-C	c.4314A>G	p.S1438=	Synonymous	26/28	-	1
12-404887-T-G	c.4307A>C	p.E1436A	Missense	26/28	-	2
12-404888-C-G	c.4306G>C	p.E1436Q	Missense	26/28	-	1
12-404887-TC-T	c.4306del	p.E1436Sfs*14	Frameshift	26/28	-	1
12-404892-CAC-GAT	c.4300_4302delinsATC	p.V1434I	Missense	26/28	-	1
12-404893-A-G	c.4301T>C	p.V1434A	Missense	26/28	-	1
12-404894-C-T	c.4300G>A	p.V1434M	Missense	26/28	-	1
12-404896-G-A	c.4298C>T	p.P1433L	Missense	26/28	-	1
12-404897-G-A	c.4297C>T	p.P1433S	Missense	26/28	-	1
12-404899-G-C	c.4295C>G	p.P1432R	Missense	26/28	-	1
12-404900-G-A	c.4294C>T	p.P1432S	Missense	26/28	-	1
12-404903-C-T	c.4291G>A	p.E1431K	Missense	26/28	-	1
12-404908-C-A	c.4286G>T	p.S1429I	Missense	26/28	-	1
12-404911-C-A	c.4283G>T	p.R1428L	Missense	26/28	-	1
12-404911-C-T	c.4283G>A	p.R1428Q	Missense	26/28	-	1
12-404912-G-A	c.4282C>T	p.R1428*	Nonsense	26/28	-	5
12-404915-G-C	c.4279C>G	p.P1427A	Missense	26/28	-	1
12-404918-C-T	c.4276G>A	p.V1426M	Missense	26/28	-	1
12-404923-G-A	c.4271C>T	p.P1424L	Missense	26/28	-	1
12-404924-G-A	c.4270C>T	p.P1424S	Missense	26/28	-	3
12-404925-G-A	c.4269C>T	p.S1423=	Synonymous	26/28	-	1
12-404925-G-T	c.4269C>A	p.S1423R	Missense	26/28	-	2
12-404926-C-T	c.4268G>A	p.S1423N	Missense	26/28	-	2
12-404926-CT-AG	c.4267_4268inv	p.S1423L	Missense	26/28	-	1
12-404928-C-A	c.4266G>T	p.K1422N	Missense	26/28	-	2
12-404928-C-G	c.4266G>C	p.K1422N	Missense	26/28	-	2
12-404931-C-A	c.4263G>T	p.R1421=	Synonymous	26/28	-	1
12-404933-G-A	c.4261C>T	p.R1421W	Missense	26/28	-	1
12-404935-G-A	c.4259C>T	p.P1420L	Missense	26/28	-	5
12-404935-G-C	c.4259C>G	p.P1420R	Missense	26/28	-	3
12-404936-G-T	c.4258C>A	p.P1420T	Missense	26/28	-	1
12-404937-T-A	c.4257A>T	p.Q1419H	Missense	26/28	-	1
12-404939-G-C	c.4255C>G	p.Q1419E	Missense	26/28	-	1
12-404944-C-A	c.4250G>T	p.R1417M	Missense	26/28	-	1
12-404948-G-A	c.4246C>T	p.P1416S	Missense	26/28	-	6
12-404948-G-C	c.4246C>G	p.P1416A	Missense	26/28	-	1
12-404949-G-A	c.4245C>T	p.T1415=	Synonymous	26/28	-	1
12-404949-G-C	c.4245C>G	p.T1415=	Synonymous	26/28	-	1
12-404949-G-T	c.4245C>A	p.T1415=	Synonymous	26/28	-	1
12-404950-G-A	c.4244C>T	p.T1415I	Missense	26/28	-	1
12-404951-T-G	c.4243A>C	p.T1415P	Missense	26/28	-	1
12-404956-G-A	c.4238C>T	p.S1413F	Missense	26/28	-	2
12-404956-G-C	c.4238C>G	p.S1413C	Missense	26/28	-	2
12-404957-A-G	c.4237T>C	p.S1413P	Missense	26/28	-	1
12-405043-G-A	c.4235-84C>T	-	IntronicSNV	-	25/27	3
12-405043-G-C	c.4235-84C>G	-	IntronicSNV	-	25/27	3
12-406207-C-A	c.4234G>T	p.G1412C	Missense	25/28	-	1
12-406210-G-A	c.4231C>T	p.Q1411*	Nonsense	25/28	-	3
12-406212-GA-AG	c.4228_4229delinsCT	p.S1410L	Missense	25/28	-	1
12-406217-A-C	c.4224T>G	p.S1408R	Missense	25/28	-	1
12-406218-C-T	c.4223G>A	p.S1408N	Missense	25/28	-	6
12-406220-C-A	c.4221G>T	p.K1407N	Missense	25/28	-	1
12-406220-C-G	c.4221G>C	p.K1407N	Missense	25/28	-	1
12-406222-TAGA-T	c.4216_4218del	p.S1406del	InFrameDeletion	25/28	-	1
12-406228-C-G	c.4213G>C	p.A1405P	Missense	25/28	-	1
12-406229-A-C	c.4212T>G	p.S1404=	Synonymous	25/28	-	1
12-406229-A-G	c.4212T>C	p.S1404=	Synonymous	25/28	-	1
12-406229-A-T	c.4212T>A	p.S1404=	Synonymous	25/28	-	1
12-406230-G-A	c.4211C>T	p.S1404F	Missense	25/28	-	1
12-406230-G-T	c.4211C>A	p.S1404Y	Missense	25/28	-	1
12-406233-G-A	c.4208C>T	p.S1403F	Missense	25/28	-	4
12-406238-A-C	c.4203T>G	p.A1401=	Synonymous	25/28	-	1
12-406238-A-G	c.4203T>C	p.A1401=	Synonymous	25/28	-	4
12-406238-A-T	c.4203T>A	p.A1401=	Synonymous	25/28	-	1
12-406240-C-T	c.4201G>A	p.A1401T	Missense	25/28	-	1
12-406243-G-A	c.4198C>T	p.H1400Y	Missense	25/28	-	1
12-406248-G-C	c.4193C>G	p.A1398G	Missense	25/28	-	1
12-406251-CA-GT	c.4189_4190delinsAC	p.C1397T	Missense	25/28	-	1
12-406252-A-G	c.4189T>C	p.C1397R	Missense	25/28	-	1
12-406257-G-A	c.4184C>T	p.S1395L	Missense	25/28	-	2
12-406263-G-T	c.4178C>A	p.A1393E	Missense	25/28	-	1
12-406264-C-A	c.4177G>T	p.A1393S	Missense	25/28	-	1
12-406266-G-A	c.4175C>T	p.T1392I	Missense	25/28	-	1
12-406270-A-G	c.4171T>C	p.W1391R	Missense	25/28	-	1
12-406271-C-A	c.4170G>T	p.M1390I	Missense	25/28	-	1
12-406271-C-G	c.4170G>C	p.M1390I	Missense	25/28	-	1
12-406271-C-T	c.4170G>A	p.M1390I	Missense	25/28	-	4
12-406273-T-A	c.4168A>T	p.M1390L	Missense	25/28	-	1
12-406277-G-A	c.4164C>T	p.T1388=	Synonymous	25/28	-	1
12-406278-G-A	c.4163C>T	p.T1388I	Missense	25/28	-	1
12-406279-T-A	c.4162A>T	p.T1388S	Missense	25/28	-	2
12-406285-C-G	c.4156G>C	p.V1386L	Missense	25/28	-	1
12-406285-C-T	c.4156G>A	p.V1386M	Missense	25/28	-	1
12-406290-T-A	c.4151A>T	p.E1384V	Missense	25/28	-	1
12-406291-C-T	c.4150G>A	p.E1384K	Missense	25/28	-	4
12-406292-G-A	c.4149C>T	p.S1383=	Synonymous	25/28	-	21
12-406292-G-C	c.4149C>G	p.S1383=	Synonymous	25/28	-	18
12-406292-G-T	c.4149C>A	p.S1383=	Synonymous	25/28	-	17
12-406293-G-A	c.4148C>T	p.S1383F	Missense	25/28	-	6
12-406296-T-C	c.4145A>G	p.K1382R	Missense	25/28	-	1
12-406297-T-A	c.4144A>T	p.K1382*	Nonsense	25/28	-	1
12-406298-G-C	c.4143C>G	p.I1381M	Missense	25/28	-	1
12-406305-A-C	c.4136T>G	p.I1379S	Missense	25/28	-	1
12-406311-T-A	c.4130A>T	p.E1377V	Missense	25/28	-	2
12-406312-C-T	c.4129G>A	p.E1377K	Missense	25/28	-	1
12-406314-T-A	c.4127A>T	p.D1376V	Missense	25/28	-	1
12-406317-C-CA	c.4123dup	p.C1375Lfs*2	Frameshift	25/28	-	1
12-406324-G-C	c.4117C>G	p.L1373V	Missense	25/28	-	2
12-406326-T-C	c.4115A>G	p.N1372S	Missense	25/28	-	1
12-406329-G-A	c.4112C>T	p.P1371L	Missense	25/28	-	1
12-406330-G-A	c.4111C>T	p.P1371S	Missense	25/28	-	3
12-406333-C-A	c.4108G>T	p.E1370*	Nonsense	25/28	-	1
12-406337-A-G	c.4104T>C	p.S1368=	Synonymous	25/28	-	1
12-406338-C-T	c.4103G>A	p.S1368N	Missense	25/28	-	1
12-406342-T-C	c.4099A>G	p.S1367G	Missense	25/28	-	1
12-406343-A-C	c.4098T>G	p.S1366=	Synonymous	25/28	-	4
12-406343-A-G	c.4098T>C	p.S1366=	Synonymous	25/28	-	5
12-406343-A-T	c.4098T>A	p.S1366=	Synonymous	25/28	-	4
12-406345-A-C	c.4096T>G	p.S1366A	Missense	25/28	-	2
12-406350-T-C	c.4091A>G	p.K1364R	Missense	25/28	-	1
12-406350-T-G	c.4091A>C	p.K1364T	Missense	25/28	-	1
12-406357-T-C	c.4084A>G	p.S1362G	Missense	25/28	-	1
12-406359-G-C	c.4082C>G	p.A1361G	Missense	25/28	-	4
12-406360-C-T	c.4081G>A	p.A1361T	Missense	25/28	-	1
12-406364-G-A	c.4077C>T	p.D1359=	Synonymous	25/28	-	1
12-406366-C-G	c.4075G>C	p.D1359H	Missense	25/28	-	1
12-409109-C-G	c.4075-2743G>C	-	IntronicSNV	-	24/27	1
12-409676-A-G	c.4075-3310T>C	-	IntronicSNV	-	24/27	1
12-415896-G-A	c.4074+216C>T	-	IntronicSNV	-	24/27	1
12-415909-CAA-C	c.4074+201_4074+202del	-	IntronicDeletion	-	24/27	1
12-415941-T-G	c.4074+171A>C	-	IntronicSNV	-	24/27	1
12-416046-C-CT	c.4074+65dup	-	IntronicInsertion	-	24/27	2
12-416046-CT-C	c.4074+65del	-	IntronicDeletion	-	24/27	2
12-416060-A-T	c.4074+52T>A	-	IntronicSNV	-	24/27	1
12-416063-C-A	c.4074+49G>T	-	IntronicSNV	-	24/27	1
12-416110-A-T	c.4074+2T>A	-	IntronicSNV	-	24/27	1
12-416112-C-A	c.4074G>T	p.K1358N	Missense	24/28	-	1
12-416115-C-A	c.4071G>T	p.M1357I	Missense	24/28	-	1
12-416115-C-G	c.4071G>C	p.M1357I	Missense	24/28	-	1
12-416115-C-T	c.4071G>A	p.M1357I	Missense	24/28	-	1
12-416120-C-A	c.4066G>T	p.D1356Y	Missense	24/28	-	1
12-416120-C-G	c.4066G>C	p.D1356H	Missense	24/28	-	1
12-416120-C-T	c.4066G>A	p.D1356N	Missense	24/28	-	6
12-416121-G-A	c.4065C>T	p.Y1355=	Synonymous	24/28	-	1
12-416121-G-C	c.4065C>G	p.Y1355*	Nonsense	24/28	-	1
12-416121-G-T	c.4065C>A	p.Y1355*	Nonsense	24/28	-	1
12-416122-T-C	c.4064A>G	p.Y1355C	Missense	24/28	-	1
12-416122-T-G	c.4064A>C	p.Y1355S	Missense	24/28	-	1
12-416123-A-C	c.4063T>G	p.Y1355D	Missense	24/28	-	1
12-416125-C-T	c.4061G>A	p.G1354D	Missense	24/28	-	1
12-416128-T-C	c.4058A>G	p.Y1353C	Missense	24/28	-	1
12-416128-T-G	c.4058A>C	p.Y1353S	Missense	24/28	-	4
12-416129-A-G	c.4057T>C	p.Y1353H	Missense	24/28	-	1
12-416137-C-T	c.4049G>A	p.R1350Q	Missense	24/28	-	2
12-416138-G-A	c.4048C>T	p.R1350*	Nonsense	24/28	-	5
12-416138-G-C	c.4048C>G	p.R1350G	Missense	24/28	-	1
12-416144-C-G	c.4042G>C	p.D1348H	Missense	24/28	-	1
12-416146-T-A	c.4040A>T	p.E1347V	Missense	24/28	-	1
12-416145-TTCATCAGAGTCTGTTTCTTCA-T	c.4020_4040del	p.D1340_D1346del	InFrameDeletion	24/28	-	1
12-416152-G-A	c.4034C>T	p.S1345F	Missense	24/28	-	1
12-416155-T-A	c.4031A>T	p.D1344V	Missense	24/28	-	1
12-416158-G-A	c.4028C>T	p.T1343I	Missense	24/28	-	1
12-416160-T-A	c.4026A>T	p.E1342D	Missense	24/28	-	1
12-416163-T-C	c.4023A>G	p.E1341=	Synonymous	24/28	-	1
12-416165-C-T	c.4021G>A	p.E1341K	Missense	24/28	-	1
12-416166-A-C	c.4020T>G	p.D1340E	Missense	24/28	-	1
12-416170-T-A	c.4016A>T	p.D1339V	Missense	24/28	-	2
12-416170-T-C	c.4016A>G	p.D1339G	Missense	24/28	-	1
12-416173-T-C	c.4013A>G	p.Y1338C	Missense	24/28	-	3
12-416176-T-A	c.4010A>T	p.D1337V	Missense	24/28	-	1
12-416176-T-G	c.4010A>C	p.D1337A	Missense	24/28	-	1
12-416179-A-G	c.4007T>C	p.M1336T	Missense	24/28	-	1
12-416180-T-C	c.4006A>G	p.M1336V	Missense	24/28	-	2
12-416182-G-A	c.4004C>T	p.T1335I	Missense	24/28	-	1
12-416187-T-C	c.3999A>G	p.R1333=	Synonymous	24/28	-	1
12-416188-C-T	c.3998G>A	p.R1333Q	Missense	24/28	-	2
12-416189-G-A	c.3997C>T	p.R1333*	Nonsense	24/28	-	2
12-416190-A-C	c.3996T>G	p.P1332=	Synonymous	24/28	-	1
12-416190-A-G	c.3996T>C	p.P1332=	Synonymous	24/28	-	1
12-416190-A-T	c.3996T>A	p.P1332=	Synonymous	24/28	-	1
12-416191-G-A	c.3995C>T	p.P1332L	Missense	24/28	-	1
12-416193-A-C	c.3993T>G	p.S1331=	Synonymous	24/28	-	1
12-416193-A-G	c.3993T>C	p.S1331=	Synonymous	24/28	-	1
12-416193-A-T	c.3993T>A	p.S1331=	Synonymous	24/28	-	1
12-416194-G-C	c.3992C>G	p.S1331C	Missense	24/28	-	1
12-416195-A-G	c.3991T>C	p.S1331P	Missense	24/28	-	1
12-416192-GAGA-G	c.3991_3993del	p.S1331del	InFrameDeletion	24/28	-	1
12-416196-A-C	c.3990T>G	p.S1330=	Synonymous	24/28	-	1
12-416196-A-G	c.3990T>C	p.S1330=	Synonymous	24/28	-	1
12-416196-A-T	c.3990T>A	p.S1330=	Synonymous	24/28	-	1
12-416197-G-A	c.3989C>T	p.S1330F	Missense	24/28	-	1
12-416197-GA-AG	c.3988_3989delinsCT	p.S1330L	Missense	24/28	-	1
12-416204-C-A	c.3982G>T	p.V1328L	Missense	24/28	-	1
12-416204-C-T	c.3982G>A	p.V1328M	Missense	24/28	-	4
12-416209-C-T	c.3977G>A	p.S1326N	Missense	24/28	-	1
12-416212-A-G	c.3974T>C	p.V1325A	Missense	24/28	-	2
12-416215-A-G	c.3971T>C	p.V1324A	Missense	24/28	-	1
12-416216-C-T	c.3970G>A	p.V1324M	Missense	24/28	-	2
12-416218-C-A	c.3968G>T	p.R1323L	Missense	24/28	-	1
12-416218-C-T	c.3968G>A	p.R1323Q	Missense	24/28	-	1
12-416219-G-A	c.3967C>T	p.R1323W	Missense	24/28	-	1
12-416223-A-T	c.3963T>A	p.F1321L	Missense	24/28	-	1
12-416230-G-A	c.3956C>T	p.S1319F	Missense	24/28	-	3
12-416234-G-T	c.3952C>A	p.Q1318K	Missense	24/28	-	1
12-416238-G-A	c.3948C>T	p.F1316=	Synonymous	24/28	-	2
12-416238-G-T	c.3948C>A	p.F1316L	Missense	24/28	-	1
12-416243-T-C	c.3943A>G	p.S1315G	Missense	24/28	-	2
12-416243-T-G	c.3943A>C	p.S1315R	Missense	24/28	-	1
12-416244-TAGGTAAG-T	c.3936_3942del	p.H1312Qfs*12	Frameshift	24/28	-	1
12-416246-G-T	c.3940C>A	p.P1314T	Missense	24/28	-	1
12-416252-G-A	c.3934C>T	p.H1312Y	Missense	24/28	-	1
12-416254-C-T	c.3932G>A	p.G1311E	Missense	24/28	-	1
12-416622-G-C	c.3928C>G	p.Q1310E	Missense	23/28	-	1
12-416623-T-A	c.3927A>T	p.L1309F	Missense	23/28	-	1
12-416623-T-G	c.3927A>C	p.L1309F	Missense	23/28	-	1
12-416627-T-C	c.3923A>G	p.D1308G	Missense	23/28	-	1
12-416633-T-C	c.3917A>G	p.N1306S	Missense	23/28	-	1
12-416639-G-A	c.3911C>T	p.A1304V	Missense	23/28	-	1
12-416642-G-A	c.3908C>T	p.A1303V	Missense	23/28	-	3
12-416648-T-C	c.3902A>G	p.Q1301R	Missense	23/28	-	1
12-416650-G-A	c.3900C>T	p.L1300=	Synonymous	23/28	-	1
12-416652-G-A	c.3898C>T	p.L1300F	Missense	23/28	-	3
12-416657-G-A	c.3893C>T	p.A1298V	Missense	23/28	-	2
12-416658-C-A	c.3892G>T	p.A1298S	Missense	23/28	-	4
12-416661-T-C	c.3889A>G	p.S1297G	Missense	23/28	-	1
12-416662-G-C	c.3888C>G	p.I1296M	Missense	23/28	-	3
12-416663-A-G	c.3887T>C	p.I1296T	Missense	23/28	-	1
12-416673-C-CA	c.3876dup	p.E1293*	Nonsense	23/28	-	1
12-416678-T-G	c.3872A>C	p.K1291T	Missense	23/28	-	1
12-416675-G-GT	c.3874dup	p.T1292Nfs*2	Frameshift	23/28	-	1
12-416682-C-G	c.3868G>C	p.E1290Q	Missense	23/28	-	1
12-416682-C-T	c.3868G>A	p.E1290K	Missense	23/28	-	3
12-416684-C-T	c.3866G>A	p.R1289Q	Missense	23/28	-	1
12-416688-C-T	c.3862G>A	p.A1288T	Missense	23/28	-	1
12-416689-C-T	c.3861G>A	p.A1287=	Synonymous	23/28	-	2
12-416690-G-A	c.3860C>T	p.A1287V	Missense	23/28	-	1
12-416691-C-T	c.3859G>A	p.A1287T	Missense	23/28	-	1
12-416693-T-A	c.3857A>T	p.Q1286L	Missense	23/28	-	1
12-416696-T-C	c.3854A>G	p.E1285G	Missense	23/28	-	1
12-416696-T-G	c.3854A>C	p.E1285A	Missense	23/28	-	1
12-416697-C-T	c.3853G>A	p.E1285K	Missense	23/28	-	2
12-416700-C-T	c.3850G>A	p.V1284M	Missense	23/28	-	2
12-416703-T-C	c.3847A>G	p.M1283V	Missense	23/28	-	1
12-416704-A-C	c.3846T>G	p.R1282=	Synonymous	23/28	-	1
12-416705-C-T	c.3845G>A	p.R1282H	Missense	23/28	-	5
12-416706-G-A	c.3844C>T	p.R1282C	Missense	23/28	-	2
12-416708-T-A	c.3842A>T	p.Q1281L	Missense	23/28	-	1
12-416709-G-T	c.3841C>A	p.Q1281K	Missense	23/28	-	1
12-416711-C-G	c.3839G>C	p.S1280T	Missense	23/28	-	1
12-416711-C-T	c.3839G>A	p.S1280N	Missense	23/28	-	1
12-416718-C-T	c.3832G>A	p.V1278M	Missense	23/28	-	1
12-416730-C-A	c.3820G>T	p.A1274S	Missense	23/28	-	1
12-416735-G-C	c.3815C>G	p.A1272G	Missense	23/28	-	1
12-416736-C-A	c.3814G>T	p.A1272S	Missense	23/28	-	1
12-416736-C-T	c.3814G>A	p.A1272T	Missense	23/28	-	1
12-416741-G-T	c.3809C>A	p.S1270Y	Missense	23/28	-	1
12-416743-T-G	c.3807A>C	p.L1269=	Synonymous	23/28	-	1
12-416745-G-T	c.3805C>A	p.L1269I	Missense	23/28	-	1
12-416747-T-G	c.3803A>C	p.E1268A	Missense	23/28	-	1
12-416749-A-C	c.3801T>G	p.D1267E	Missense	23/28	-	1
12-416750-T-C	c.3800A>G	p.D1267G	Missense	23/28	-	2
12-416750-T-G	c.3800A>C	p.D1267A	Missense	23/28	-	1
12-416760-G-A	c.3790C>T	p.L1264=	Synonymous	23/28	-	2
12-416760-G-C	c.3790C>G	p.L1264V	Missense	23/28	-	1
12-416761-A-C	c.3789T>G	p.A1263=	Synonymous	23/28	-	1
12-416761-A-G	c.3789T>C	p.A1263=	Synonymous	23/28	-	2
12-416761-A-T	c.3789T>A	p.A1263=	Synonymous	23/28	-	1
12-416764-C-A	c.3786G>T	p.Q1262H	Missense	23/28	-	1
12-416767-CCG-ACA	c.3781_3783delinsTGT	p.R1261C	Missense	23/28	-	1
12-416768-C-A	c.3782G>T	p.R1261L	Missense	23/28	-	4
12-416768-C-T	c.3782G>A	p.R1261Q	Missense	23/28	-	1
12-416769-G-A	c.3781C>T	p.R1261W	Missense	23/28	-	10
12-416771-G-A	c.3779C>T	p.A1260V	Missense	23/28	-	3
12-416774-C-G	c.3776G>C	p.R1259T	Missense	23/28	-	3
12-416777-T-C	c.3773A>G	p.D1258G	Missense	23/28	-	3
12-416781-G-A	c.3769C>T	p.Q1257*	Nonsense	23/28	-	1
12-416784-A-G	c.3766T>C	p.W1256R	Missense	23/28	-	4
12-416784-A-T	c.3766T>A	p.W1256R	Missense	23/28	-	2
12-416785-A-C	c.3765T>G	p.S1255R	Missense	23/28	-	1
12-416786-C-T	c.3764G>A	p.S1255N	Missense	23/28	-	1
12-416786-CT-GC	c.3763_3764delinsGC	p.S1255A	Missense	23/28	-	1
12-416787-T-C	c.3763A>G	p.S1255G	Missense	23/28	-	1
12-416788-C-G	c.3762G>C	p.M1254I	Missense	23/28	-	2
12-416789-A-G	c.3761T>C	p.M1254T	Missense	23/28	-	1
12-416792-G-A	c.3758C>T	p.A1253V	Missense	23/28	-	2
12-416792-G-C	c.3758C>G	p.A1253G	Missense	23/28	-	1
12-416795-C-T	c.3755G>A	p.R1252H	Missense	23/28	-	1
12-416796-G-A	c.3754C>T	p.R1252C	Missense	23/28	-	2
12-416801-G-A	c.3749C>T	p.T1250I	Missense	23/28	-	1
12-416803-C-T	c.3747G>A	p.L1249=	Synonymous	23/28	-	1
12-416804-A-T	c.3746T>A	p.L1249*	Nonsense	23/28	-	1
12-416810-T-C	c.3740A>G	p.Q1247R	Missense	23/28	-	1
12-416811-G-A	c.3739C>T	p.Q1247*	Nonsense	23/28	-	3
12-416811-G-T	c.3739C>A	p.Q1247K	Missense	23/28	-	1
12-416816-G-A	c.3734C>T	p.A1245V	Missense	23/28	-	3
12-416817-C-T	c.3733G>A	p.A1245T	Missense	23/28	-	1
12-416823-C-A	c.3727G>T	p.G1243*	Nonsense	23/28	-	1
12-416827-A-C	c.3723T>G	p.P1241=	Synonymous	23/28	-	1
12-416827-A-G	c.3723T>C	p.P1241=	Synonymous	23/28	-	1
12-416827-A-T	c.3723T>A	p.P1241=	Synonymous	23/28	-	1
12-416828-G-A	c.3722C>T	p.P1241L	Missense	23/28	-	1
12-416829-G-A	c.3721C>T	p.P1241S	Missense	23/28	-	4
12-416830-C-A	c.3720G>T	p.L1240F	Missense	23/28	-	2
12-416831-A-T	c.3719T>A	p.L1240*	Nonsense	23/28	-	2
12-416834-C-T	c.3716G>A	p.R1239Q	Missense	23/28	-	2
12-416835-G-A	c.3715C>T	p.R1239W	Missense	23/28	-	4
12-416838-C-A	c.3712G>T	p.V1238L	Missense	23/28	-	1
12-416838-C-T	c.3712G>A	p.V1238I	Missense	23/28	-	2
12-416839-G-A	c.3711C>T	p.P1237=	Synonymous	23/28	-	4
12-416840-G-A	c.3710C>T	p.P1237L	Missense	23/28	-	2
12-416838-CG-C	c.3711del	p.V1238Yfs*12	Frameshift	23/28	-	1
12-416841-G-A	c.3709C>T	p.P1237S	Missense	23/28	-	1
12-416845-C-G	c.3705G>C	p.K1235N	Missense	23/28	-	1
12-416845-C-T	c.3705G>A	p.K1235=	Synonymous	23/28	-	1
12-416853-G-A	c.3697C>T	p.L1233F	Missense	23/28	-	3
12-416854-G-A	c.3696C>T	p.S1232=	Synonymous	23/28	-	1
12-416855-G-A	c.3695C>T	p.S1232F	Missense	23/28	-	3
12-416857-T-C	c.3693A>G	p.V1231=	Synonymous	23/28	-	1
12-416859-C-A	c.3691G>T	p.V1231L	Missense	23/28	-	1
12-416860-C-A	c.3690G>T	p.L1230=	Synonymous	23/28	-	1
12-416864-A-G	c.3686T>C	p.L1229P	Missense	23/28	-	1
12-416865-G-A	c.3685C>T	p.L1229F	Missense	23/28	-	4
12-416867-G-C	c.3683C>G	p.S1228*	Nonsense	23/28	-	1
12-416871-G-C	c.3679C>G	p.L1227V	Missense	23/28	-	2
12-416874-T-C	c.3676A>G	p.I1226V	Missense	23/28	-	2
12-416877-T-C	c.3673A>G	p.T1225A	Missense	23/28	-	1
12-416878-C-T	c.3672G>A	p.E1224=	Synonymous	23/28	-	1
12-416880-C-G	c.3670G>C	p.E1224Q	Missense	23/28	-	1
12-416884-C-T	c.3666G>A	p.R1222=	Synonymous	23/28	-	2
12-416886-T-G	c.3664A>C	p.R1222=	Synonymous	23/28	-	1
12-416889-G-A	c.3661C>T	p.P1221S	Missense	23/28	-	2
12-416890-CCT-ATG	c.3658_3660delinsCAT	p.R1220H	Missense	23/28	-	1
12-416891-CT-TG	c.3658_3659delinsCA	p.R1220Q	Missense	23/28	-	1
12-416894-C-T	c.3656G>A	p.R1219Q	Missense	23/28	-	2
12-416895-G-C	c.3655C>G	p.R1219G	Missense	23/28	-	2
12-416897-G-GA	c.3652dup	p.S1218Ffs*25	Frameshift	23/28	-	1
12-416900-CG-TA	c.3649_3650delinsTA	p.R1217*	Nonsense	23/28	-	1
12-416900-CG-TT	c.3649_3650delinsAA	p.R1217K	Missense	23/28	-	1
12-416900-C-T	c.3650G>A	p.R1217Q	Missense	23/28	-	3
12-416899-C-A	c.3651G>T	p.R1217=	Synonymous	23/28	-	1
12-416899-C-G	c.3651G>C	p.R1217=	Synonymous	23/28	-	1
12-416899-C-T	c.3651G>A	p.R1217=	Synonymous	23/28	-	1
12-416901-G-A	c.3649C>T	p.R1217W	Missense	23/28	-	6
12-416901-G-T	c.3649C>A	p.R1217=	Synonymous	23/28	-	1
12-416904-T-C	c.3646A>G	p.M1216V	Missense	23/28	-	1
12-416906-C-G	c.3644G>C	p.C1215S	Missense	23/28	-	1
12-416909-A-G	c.3641T>C	p.L1214P	Missense	23/28	-	1
12-416913-G-A	c.3637C>T	p.P1213S	Missense	23/28	-	1
12-416919-G-A	c.3631C>T	p.L1211F	Missense	23/28	-	5
12-416920-G-A	c.3630C>T	p.F1210=	Synonymous	23/28	-	1
12-416920-G-C	c.3630C>G	p.F1210L	Missense	23/28	-	1
12-416920-G-T	c.3630C>A	p.F1210L	Missense	23/28	-	1
12-416922-A-G	c.3628T>C	p.F1210L	Missense	23/28	-	1
12-416923-T-C	c.3627A>G	p.K1209=	Synonymous	23/28	-	1
12-416927-A-G	c.3623T>C	p.V1208A	Missense	23/28	-	1
12-416927-A-T	c.3623T>A	p.V1208E	Missense	23/28	-	1
12-416928-C-T	c.3622G>A	p.V1208I	Missense	23/28	-	1
12-416929-T-A	c.3621A>T	p.E1207D	Missense	23/28	-	2
12-416929-T-G	c.3621A>C	p.E1207D	Missense	23/28	-	1
12-416931-C-A	c.3619G>T	p.E1207*	Nonsense	23/28	-	2
12-416933-T-G	c.3617A>C	p.K1206T	Missense	23/28	-	1
12-416934-T-A	c.3616A>T	p.K1206*	Nonsense	23/28	-	1
12-416942-C-A	c.3608G>T	p.W1203L	Missense	23/28	-	1
12-416944-G-T	c.3606C>A	p.S1202R	Missense	23/28	-	1
12-416945-CT-AG	c.3604_3605inv	p.S1202L	Missense	23/28	-	1
12-416948-G-A	c.3602C>T	p.S1201F	Missense	23/28	-	5
12-416949-A-G	c.3601T>C	p.S1201P	Missense	23/28	-	3
12-416951-C-G	c.3599G>C	p.G1200A	Missense	23/28	-	1
12-416950-TC-T	c.3599del	p.G1200Dfs*9	Frameshift	23/28	-	4
12-416955-T-C	c.3595A>G	p.K1199E	Missense	23/28	-	1
12-416955-T-TA	c.3594_3595insT	p.K1199*	Nonsense	23/28	-	8
12-416957-T-C	c.3593A>G	p.K1198R	Missense	23/28	-	1
12-416952-CTT-C	c.3596_3597del	p.K1199Rfs*7	Frameshift	23/28	-	1
12-416952-C-CT	c.3597dup	p.G1200Rfs*7	Frameshift	23/28	-	4
12-416952-CT-C	c.3597del	p.G1200Dfs*9	Frameshift	23/28	-	18
12-416960-T-G	c.3590A>C	p.Q1197P	Missense	23/28	-	7
12-416961-G-T	c.3589C>A	p.Q1197K	Missense	23/28	-	1
12-416964-GAA-G	c.3585_3586del	p.S1196Pfs*10	Frameshift	23/28	-	1
12-416967-T-A	c.3583A>T	p.S1195C	Missense	23/28	-	1
12-416967-T-C	c.3583A>G	p.S1195G	Missense	23/28	-	1
12-416969-G-C	c.3581C>G	p.S1194*	Nonsense	23/28	-	3
12-416969-G-T	c.3581C>A	p.S1194*	Nonsense	23/28	-	3
12-416970-A-G	c.3580T>C	p.S1194P	Missense	23/28	-	1
12-416976-G-T	c.3574C>A	p.P1192T	Missense	23/28	-	1
12-416979-G-A	c.3571C>T	p.L1191F	Missense	23/28	-	4
12-416981-G-A	c.3569C>T	p.P1190L	Missense	23/28	-	1
12-416980-AG-A	c.3569del	p.P1190Lfs*19	Frameshift	23/28	-	1
12-416982-G-A	c.3568C>T	p.P1190S	Missense	23/28	-	4
12-416982-G-C	c.3568C>G	p.P1190A	Missense	23/28	-	8
12-416984-A-G	c.3566T>C	p.V1189A	Missense	23/28	-	1
12-416989-G-A	c.3561C>T	p.S1187=	Synonymous	23/28	-	2
12-416990-C-G	c.3560G>C	p.S1187T	Missense	23/28	-	1
12-416990-C-T	c.3560G>A	p.S1187N	Missense	23/28	-	1
12-416991-T-A	c.3559A>T	p.S1187C	Missense	23/28	-	1
12-416993-T-C	c.3557A>G	p.N1186S	Missense	23/28	-	1
12-416996-T-A	c.3554A>T	p.H1185L	Missense	23/28	-	1
12-416996-T-C	c.3554A>G	p.H1185R	Missense	23/28	-	1
12-416998-G-A	c.3552C>T	p.F1184=	Synonymous	23/28	-	1
12-417001-C-G	c.3549G>C	p.W1183C	Missense	23/28	-	1
12-417010-G-A	c.3540C>T	p.C1180=	Synonymous	23/28	-	4
12-417011-C-A	c.3539G>T	p.C1180F	Missense	23/28	-	1
12-417018-C-G	c.3532G>C	p.E1178Q	Missense	23/28	-	1
12-417019-A-C	c.3531T>G	p.C1177W	Missense	23/28	-	1
12-417020-CA-GT	c.3529_3530delinsAC	p.C1177T	Missense	23/28	-	1
12-417023-T-A	c.3527A>T	p.Q1176L	Missense	23/28	-	1
12-417023-T-C	c.3527A>G	p.Q1176R	Missense	23/28	-	1
12-417031-A-G	c.3519T>C	p.F1173=	Synonymous	23/28	-	1
12-417035-C-A	c.3515G>T	p.G1172V	Missense	23/28	-	5
12-417038-C-A	c.3512G>T	p.S1171I	Missense	23/28	-	1
12-417038-C-T	c.3512G>A	p.S1171N	Missense	23/28	-	2
12-417042-C-G	c.3508G>C	p.A1170P	Missense	23/28	-	1
12-417042-C-T	c.3508G>A	p.A1170T	Missense	23/28	-	1
12-417047-T-A	c.3503A>T	p.K1168M	Missense	23/28	-	1
12-417047-T-C	c.3503A>G	p.K1168R	Missense	23/28	-	2
12-417050-C-T	c.3500G>A	p.R1167H	Missense	23/28	-	3
12-417051-G-A	c.3499C>T	p.R1167C	Missense	23/28	-	3
12-417052-G-A	c.3498C>T	p.C1166=	Synonymous	23/28	-	1
12-417057-T-C	c.3493A>G	p.I1165V	Missense	23/28	-	3
12-417059-C-T	c.3491G>A	p.C1164Y	Missense	23/28	-	1
12-417065-T-G	c.3485A>C	p.K1162T	Missense	23/28	-	1
12-417066-T-G	c.3484A>C	p.K1162Q	Missense	23/28	-	6
12-417063-AT-A	c.3486del	p.K1162Nfs*47	Frameshift	23/28	-	1
12-417068-A-C	c.3482T>G	p.V1161G	Missense	23/28	-	1
12-417069-C-T	c.3481G>A	p.V1161I	Missense	23/28	-	2
12-417071-T-A	c.3479A>T	p.E1160V	Missense	23/28	-	1
12-417072-C-G	c.3478G>C	p.E1160Q	Missense	23/28	-	2
12-417072-C-T	c.3478G>A	p.E1160K	Missense	23/28	-	1
12-417068-ACTT-A	c.3479_3481del	p.E1160del	InFrameDeletion	23/28	-	4
12-417075-C-A	c.3475G>T	p.E1159*	Nonsense	23/28	-	3
12-417076-T-C	c.3474A>G	p.I1158M	Missense	23/28	-	1
12-417078-T-C	c.3472A>G	p.I1158V	Missense	23/28	-	2
12-417080-C-T	c.3470G>A	p.R1157H	Missense	23/28	-	6
12-417081-G-A	c.3469C>T	p.R1157C	Missense	23/28	-	5
12-417082-G-C	c.3468C>G	p.D1156E	Missense	23/28	-	5
12-417082-G-T	c.3468C>A	p.D1156E	Missense	23/28	-	3
12-417088-C-A	c.3462G>T	p.M1154I	Missense	23/28	-	5
12-417088-C-G	c.3462G>C	p.M1154I	Missense	23/28	-	2
12-417088-C-T	c.3462G>A	p.M1154I	Missense	23/28	-	2
12-417089-A-G	c.3461T>C	p.M1154T	Missense	23/28	-	1
12-417090-T-C	c.3460A>G	p.M1154V	Missense	23/28	-	1
12-417094-C-A	c.3456G>T	p.M1152I	Missense	23/28	-	1
12-417094-C-G	c.3456G>C	p.M1152I	Missense	23/28	-	1
12-417094-C-T	c.3456G>A	p.M1152I	Missense	23/28	-	2
12-417095-A-T	c.3455T>A	p.M1152K	Missense	23/28	-	1
12-417096-T-C	c.3454A>G	p.M1152V	Missense	23/28	-	1
12-417098-T-C	c.3452A>G	p.K1151R	Missense	23/28	-	1
12-417099-T-C	c.3451A>G	p.K1151E	Missense	23/28	-	4
12-417100-G-A	c.3450C>T	p.A1150=	Synonymous	23/28	-	3
12-417101-G-A	c.3449C>T	p.A1150V	Missense	23/28	-	1
12-417101-G-T	c.3449C>A	p.A1150D	Missense	23/28	-	1
12-417104-A-T	c.3446T>A	p.L1149Q	Missense	23/28	-	1
12-417105-G-T	c.3445C>A	p.L1149I	Missense	23/28	-	1
12-417113-G-A	c.3437C>T	p.A1146V	Missense	23/28	-	1
12-417114-C-T	c.3436G>A	p.A1146T	Missense	23/28	-	2
12-417118-G-C	c.3432C>G	p.L1144=	Synonymous	23/28	-	1
12-417120-G-C	c.3430C>G	p.L1144V	Missense	23/28	-	1
12-417122-G-A	c.3428C>T	p.S1143F	Missense	23/28	-	1
12-417125-T-C	c.3425A>G	p.H1142R	Missense	23/28	-	3
12-417127-C-A	c.3423G>T	p.M1141I	Missense	23/28	-	1
12-417127-C-T	c.3423G>A	p.M1141I	Missense	23/28	-	1
12-417129-T-C	c.3421A>G	p.M1141V	Missense	23/28	-	1
12-417131-G-A	c.3419C>T	p.A1140V	Missense	23/28	-	1
12-417132-C-T	c.3418G>A	p.A1140T	Missense	23/28	-	1
12-417135-C-T	c.3415G>A	p.E1139K	Missense	23/28	-	2
12-417137-A-G	c.3413T>C	p.I1138T	Missense	23/28	-	2
12-417142-T-A	c.3408A>T	p.K1136N	Missense	23/28	-	1
12-417142-T-G	c.3408A>C	p.K1136N	Missense	23/28	-	1
12-417143-T-C	c.3407A>G	p.K1136R	Missense	23/28	-	3
12-417144-T-G	c.3406A>C	p.K1136Q	Missense	23/28	-	1
12-417150-C-A	c.3400G>T	p.E1134*	Nonsense	23/28	-	1
12-417152-C-A	c.3398G>T	p.R1133L	Missense	23/28	-	1
12-417152-C-T	c.3398G>A	p.R1133Q	Missense	23/28	-	2
12-417153-G-A	c.3397C>T	p.R1133W	Missense	23/28	-	2
12-417153-GT-G	c.3396del	p.E1132Dfs*18	Frameshift	23/28	-	1
12-417156-C-A	c.3394G>T	p.E1132*	Nonsense	23/28	-	1
12-417156-C-T	c.3394G>A	p.E1132K	Missense	23/28	-	1
12-417159-T-C	c.3391A>G	p.K1131E	Missense	23/28	-	1
12-417160-G-T	c.3390C>A	p.F1130L	Missense	23/28	-	1
12-417165-C-T	c.3385G>A	p.V1129I	Missense	23/28	-	1
12-417167-G-T	c.3383C>A	p.A1128E	Missense	23/28	-	2
12-417299-C-T	c.3379-128G>A	-	IntronicSNV	-	22/27	2
12-417305-G-A	c.3379-134C>T	-	IntronicSNV	-	22/27	1
12-417305-G-C	c.3379-134C>G	-	IntronicSNV	-	22/27	1
12-417305-G-T	c.3379-134C>A	-	IntronicSNV	-	22/27	1
12-418777-G-T	c.3378+192C>A	-	IntronicSNV	-	22/27	1
12-418916-C-T	c.3378+53G>A	-	IntronicSNV	-	22/27	7
12-418926-T-C	c.3378+43A>G	-	IntronicSNV	-	22/27	1
12-418968-C-T	c.3378+1G>A	-	IntronicSNV	-	22/27	1
12-418970-A-G	c.3377T>C	p.V1126A	Missense	22/28	-	1
12-418977-C-A	c.3370G>T	p.A1124S	Missense	22/28	-	1
12-418979-G-A	c.3368C>T	p.T1123I	Missense	22/28	-	1
12-418979-G-T	c.3368C>A	p.T1123K	Missense	22/28	-	1
12-418982-T-C	c.3365A>G	p.D1122G	Missense	22/28	-	2
12-418987-G-A	c.3360C>T	p.T1120=	Synonymous	22/28	-	1
12-418988-G-A	c.3359C>T	p.T1120I	Missense	22/28	-	4
12-418989-T-C	c.3358A>G	p.T1120A	Missense	22/28	-	1
12-418995-C-T	c.3352G>A	p.E1118K	Missense	22/28	-	2
12-419000-C-T	c.3347G>A	p.G1116E	Missense	22/28	-	6
12-419005-C-A	c.3342G>T	p.E1114D	Missense	22/28	-	1
12-419006-T-C	c.3341A>G	p.E1114G	Missense	22/28	-	1
12-419007-C-T	c.3340G>A	p.E1114K	Missense	22/28	-	2
12-419008-C-T	c.3339G>A	p.L1113=	Synonymous	22/28	-	1
12-419009-A-G	c.3338T>C	p.L1113P	Missense	22/28	-	1
12-419014-A-G	c.3333T>C	p.S1111=	Synonymous	22/28	-	2
12-419016-T-G	c.3331A>C	p.S1111R	Missense	22/28	-	1
12-419017-C-A	c.3330G>T	p.L1110=	Synonymous	22/28	-	1
12-419017-C-G	c.3330G>C	p.L1110=	Synonymous	22/28	-	1
12-419017-C-T	c.3330G>A	p.L1110=	Synonymous	22/28	-	1
12-419019-G-A	c.3328C>T	p.L1110=	Synonymous	22/28	-	1
12-419022-G-A	c.3325C>T	p.P1109S	Missense	22/28	-	1
12-419022-G-C	c.3325C>G	p.P1109A	Missense	22/28	-	1
12-419023-C-A	c.3324G>T	p.E1108D	Missense	22/28	-	1
12-419023-C-T	c.3324G>A	p.E1108=	Synonymous	22/28	-	1
12-419024-T-C	c.3323A>G	p.E1108G	Missense	22/28	-	1
12-419025-C-G	c.3322G>C	p.E1108Q	Missense	22/28	-	1
12-419025-C-T	c.3322G>A	p.E1108K	Missense	22/28	-	1
12-419030-T-A	c.3317A>T	p.D1106V	Missense	22/28	-	2
12-419031-C-T	c.3316G>A	p.D1106N	Missense	22/28	-	2
12-419036-T-C	c.3311A>G	p.D1104G	Missense	22/28	-	6
12-419037-C-A	c.3310G>T	p.D1104Y	Missense	22/28	-	1
12-419037-C-T	c.3310G>A	p.D1104N	Missense	22/28	-	2
12-419038-C-T	c.3309G>A	p.K1103=	Synonymous	22/28	-	2
12-419039-T-C	c.3308A>G	p.K1103R	Missense	22/28	-	2
12-419043-C-G	c.3304G>C	p.E1102Q	Missense	22/28	-	2
12-419043-C-T	c.3304G>A	p.E1102K	Missense	22/28	-	6
12-419044-T-G	c.3303A>C	p.K1101N	Missense	22/28	-	1
12-419047-T-G	c.3300A>C	p.E1100D	Missense	22/28	-	1
12-419049-C-T	c.3298G>A	p.E1100K	Missense	22/28	-	6
12-419054-T-C	c.3293A>G	p.E1098G	Missense	22/28	-	1
12-419055-C-T	c.3292G>A	p.E1098K	Missense	22/28	-	2
12-419057-A-G	c.3290T>C	p.I1097T	Missense	22/28	-	1
12-419057-A-T	c.3290T>A	p.I1097K	Missense	22/28	-	3
12-419061-G-C	c.3286C>G	p.L1096V	Missense	22/28	-	2
12-419062-T-A	c.3285A>T	p.E1095D	Missense	22/28	-	2
12-419064-C-A	c.3283G>T	p.E1095*	Nonsense	22/28	-	1
12-419064-C-T	c.3283G>A	p.E1095K	Missense	22/28	-	2
12-419067-T-A	c.3280A>T	p.K1094*	Nonsense	22/28	-	1
12-419069-AC-TA	c.3277_3278delinsTA	p.V1093*	Nonsense	22/28	-	2
12-419069-A-G	c.3278T>C	p.V1093A	Missense	22/28	-	3
12-419070-C-T	c.3277G>A	p.V1093I	Missense	22/28	-	1
12-419070-C-CT	c.3276dup	p.V1093Sfs*20	Frameshift	22/28	-	1
12-419076-T-G	c.3271A>C	p.K1091Q	Missense	22/28	-	1
12-419077-C-T	c.3270G>A	p.R1090=	Synonymous	22/28	-	1
12-419078-C-A	c.3269G>T	p.R1090M	Missense	22/28	-	1
12-419078-C-T	c.3269G>A	p.R1090K	Missense	22/28	-	3
12-419080-C-A	c.3267G>T	p.R1089S	Missense	22/28	-	1
12-419080-CCT-ATG	c.3265_3267delinsCAT	p.R1089H	Missense	22/28	-	1
12-419080-C-G	c.3267G>C	p.R1089S	Missense	22/28	-	1
12-419082-T-A	c.3265A>T	p.R1089W	Missense	22/28	-	3
12-419085-T-TA	c.3261_3262insT	p.N1088*	Nonsense	22/28	-	1
12-419087-T-C	c.3260A>G	p.K1087R	Missense	22/28	-	1
12-419089-G-T	c.3258C>A	p.G1086=	Synonymous	22/28	-	1
12-419090-C-A	c.3257G>T	p.G1086V	Missense	22/28	-	1
12-419090-C-T	c.3257G>A	p.G1086D	Missense	22/28	-	3
12-419091-C-G	c.3256G>C	p.G1086R	Missense	22/28	-	1
12-419091-C-T	c.3256G>A	p.G1086S	Missense	22/28	-	1
12-419092-A-G	c.3255T>C	p.S1085=	Synonymous	22/28	-	2
12-419093-C-T	c.3254G>A	p.S1085N	Missense	22/28	-	1
12-419097-C-T	c.3250G>A	p.G1084R	Missense	22/28	-	1
12-419102-A-G	c.3245T>C	p.V1082A	Missense	22/28	-	1
12-419105-C-A	c.3242G>T	p.G1081V	Missense	22/28	-	1
12-419105-C-G	c.3242G>C	p.G1081A	Missense	22/28	-	1
12-419105-C-T	c.3242G>A	p.G1081D	Missense	22/28	-	1
12-419108-A-G	c.3239T>C	p.I1080T	Missense	22/28	-	1
12-419110-G-C	c.3237C>G	p.D1079E	Missense	22/28	-	1
12-419112-C-A	c.3235G>T	p.D1079Y	Missense	22/28	-	3
12-419112-C-T	c.3235G>A	p.D1079N	Missense	22/28	-	5
12-419113-G-A	c.3234C>T	p.T1078=	Synonymous	22/28	-	2
12-419113-G-C	c.3234C>G	p.T1078=	Synonymous	22/28	-	2
12-419113-G-T	c.3234C>A	p.T1078=	Synonymous	22/28	-	2
12-419114-G-C	c.3233C>G	p.T1078S	Missense	22/28	-	1
12-419117-C-T	c.3230G>A	p.R1077Q	Missense	22/28	-	2
12-419116-C-A	c.3231G>T	p.R1077=	Synonymous	22/28	-	1
12-419116-C-G	c.3231G>C	p.R1077=	Synonymous	22/28	-	1
12-419116-C-T	c.3231G>A	p.R1077=	Synonymous	22/28	-	1
12-419118-G-A	c.3229C>T	p.R1077W	Missense	22/28	-	1
12-419118-G-T	c.3229C>A	p.R1077=	Synonymous	22/28	-	1
12-419120-G-A	c.3227C>T	p.P1076L	Missense	22/28	-	1
12-419117-C-CG	c.3229dup	p.R1077Pfs*13	Frameshift	22/28	-	1
12-419123-C-T	c.3224G>A	p.S1075N	Missense	22/28	-	1
12-419124-T-C	c.3223A>G	p.S1075G	Missense	22/28	-	2
12-419125-C-T	c.3222G>A	p.L1074=	Synonymous	22/28	-	1
12-419128-C-A	c.3219G>T	p.V1073=	Synonymous	22/28	-	3
12-419128-C-G	c.3219G>C	p.V1073=	Synonymous	22/28	-	1
12-419128-C-T	c.3219G>A	p.V1073=	Synonymous	22/28	-	1
12-419130-C-G	c.3217G>C	p.V1073L	Missense	22/28	-	1
12-420021-C-T	c.3216+30G>A	-	IntronicSNV	-	21/27	1
12-420050-C-T	c.3216+1G>A	-	IntronicSNV	-	21/27	1
12-420051-C-T	c.3216G>A	p.Q1072=	Synonymous	21/28	-	1
12-420053-G-A	c.3214C>T	p.Q1072*	Nonsense	21/28	-	1
12-420062-T-A	c.3205A>T	p.T1069S	Missense	21/28	-	1
12-420062-T-C	c.3205A>G	p.T1069A	Missense	21/28	-	2
12-420064-T-C	c.3203A>G	p.H1068R	Missense	21/28	-	1
12-420064-T-G	c.3203A>C	p.H1068P	Missense	21/28	-	1
12-420070-G-A	c.3197C>T	p.S1066F	Missense	21/28	-	6
12-420070-G-C	c.3197C>G	p.S1066C	Missense	21/28	-	10
12-420070-G-T	c.3197C>A	p.S1066Y	Missense	21/28	-	2
12-420073-T-A	c.3194A>T	p.N1065I	Missense	21/28	-	1
12-420076-T-G	c.3191A>C	p.K1064T	Missense	21/28	-	1
12-420072-ATTC-A	c.3192_3194del	p.K1064del	InFrameDeletion	21/28	-	1
12-420083-G-C	c.3184C>G	p.L1062V	Missense	21/28	-	3
12-420087-C-A	c.3180G>T	p.T1060=	Synonymous	21/28	-	1
12-420087-C-G	c.3180G>C	p.T1060=	Synonymous	21/28	-	1
12-420087-CG-GA	c.3179_3180delinsTC	p.T1060I	Missense	21/28	-	1
12-420087-C-T	c.3180G>A	p.T1060=	Synonymous	21/28	-	1
12-420088-G-A	c.3179C>T	p.T1060M	Missense	21/28	-	4
12-420088-G-T	c.3179C>A	p.T1060K	Missense	21/28	-	1
12-420091-C-T	c.3176G>A	p.R1059Q	Missense	21/28	-	2
12-420092-G-A	c.3175C>T	p.R1059W	Missense	21/28	-	2
12-420093-CCC-GCT	c.3172_3174delinsAGC	p.G1058S	Missense	21/28	-	1
12-420093-CC-GT	c.3173_3174delinsAC	p.G1058D	Missense	21/28	-	1
12-420094-C-G	c.3173G>C	p.G1058A	Missense	21/28	-	1
12-420100-C-T	c.3167G>A	p.R1056Q	Missense	21/28	-	3
12-420101-G-A	c.3166C>T	p.R1056W	Missense	21/28	-	2
12-420101-G-T	c.3166C>A	p.R1056=	Synonymous	21/28	-	1
12-420106-CT-TG	c.3160_3161delinsCA	p.R1054Q	Missense	21/28	-	1
12-420108-C-T	c.3159G>A	p.W1053*	Nonsense	21/28	-	1
12-420109-C-T	c.3158G>A	p.W1053*	Nonsense	21/28	-	1
12-420112-G-A	c.3155C>T	p.A1052V	Missense	21/28	-	1
12-420113-C-T	c.3154G>A	p.A1052T	Missense	21/28	-	2
12-420115-C-T	c.3152G>A	p.R1051Q	Missense	21/28	-	4
12-420116-G-A	c.3151C>T	p.R1051W	Missense	21/28	-	2
12-420118-G-C	c.3149C>G	p.A1050G	Missense	21/28	-	1
12-420127-A-G	c.3140T>C	p.V1047A	Missense	21/28	-	1
12-420128-C-A	c.3139G>T	p.V1047L	Missense	21/28	-	1
12-420128-C-T	c.3139G>A	p.V1047I	Missense	21/28	-	1
12-420130-T-A	c.3137A>T	p.Q1046L	Missense	21/28	-	2
12-420135-T-C	c.3132A>G	p.E1044=	Synonymous	21/28	-	1
12-420137-C-A	c.3130G>T	p.E1044*	Nonsense	21/28	-	1
12-420136-TC-T	c.3130del	p.E1044Nfs*4	Frameshift	21/28	-	1
12-420139-A-C	c.3128T>G	p.V1043G	Missense	21/28	-	1
12-420140-C-T	c.3127G>A	p.V1043M	Missense	21/28	-	1
12-420143-G-A	c.3124C>T	p.Q1042*	Nonsense	21/28	-	1
12-420144-C-A	c.3123G>T	p.P1041=	Synonymous	21/28	-	2
12-420144-C-G	c.3123G>C	p.P1041=	Synonymous	21/28	-	2
12-420144-C-T	c.3123G>A	p.P1041=	Synonymous	21/28	-	3
12-420145-G-A	c.3122C>T	p.P1041L	Missense	21/28	-	5
12-420145-G-C	c.3122C>G	p.P1041R	Missense	21/28	-	1
12-420146-G-C	c.3121C>G	p.P1041A	Missense	21/28	-	1
12-420147-CAG-GAT	c.3118_3120delinsATC	p.L1040I	Missense	21/28	-	1
12-420152-C-T	c.3115G>A	p.A1039T	Missense	21/28	-	2
12-420158-G-T	c.3109C>A	p.L1037I	Missense	21/28	-	2
12-420159-ACG-CCA	c.3106_3108delinsTGG	p.R1036W	Missense	21/28	-	1
12-420159-AC-TT	c.3107_3108delinsAA	p.R1036Q	Missense	21/28	-	1
12-420160-C-T	c.3107G>A	p.R1036H	Missense	21/28	-	1
12-420161-G-A	c.3106C>T	p.R1036C	Missense	21/28	-	2
12-420163-A-G	c.3104T>C	p.V1035A	Missense	21/28	-	1
12-420163-ACAGGAATAGGGCGTC-A	c.3089_3103del	p.G1030_P1034del	InFrameDeletion	21/28	-	2
12-420165-A-G	c.3102T>C	p.P1034=	Synonymous	21/28	-	1
12-420172-G-T	c.3095C>A	p.P1032H	Missense	21/28	-	1
12-420173-G-T	c.3094C>A	p.P1032T	Missense	21/28	-	1
12-420174-GCG-CCA	c.3091_3093delinsTGG	p.R1031W	Missense	21/28	-	1
12-420175-C-G	c.3092G>C	p.R1031P	Missense	21/28	-	1
12-420175-C-T	c.3092G>A	p.R1031H	Missense	21/28	-	3
12-420176-G-A	c.3091C>T	p.R1031C	Missense	21/28	-	6
12-420176-G-C	c.3091C>G	p.R1031G	Missense	21/28	-	1
12-420176-G-T	c.3091C>A	p.R1031S	Missense	21/28	-	1
12-420179-C-T	c.3088G>A	p.G1030R	Missense	21/28	-	1
12-420184-G-A	c.3083C>T	p.A1028V	Missense	21/28	-	6
12-420185-C-T	c.3082G>A	p.A1028T	Missense	21/28	-	2
12-420187-G-C	c.3080C>G	p.S1027C	Missense	21/28	-	1
12-420194-T-C	c.3073A>G	p.S1025G	Missense	21/28	-	1
12-420195-C-T	c.3072G>A	p.E1024=	Synonymous	21/28	-	1
12-420200-G-A	c.3067C>T	p.L1023F	Missense	21/28	-	1
12-420200-G-T	c.3067C>A	p.L1023I	Missense	21/28	-	2
12-420203-G-A	c.3064C>T	p.Q1022*	Nonsense	21/28	-	2
12-420206-C-A	c.3061G>T	p.E1021*	Nonsense	21/28	-	1
12-420208-AAAT-A	c.3056_3058del	p.Y1019del	InFrameDeletion	21/28	-	1
12-420215-C-A	c.3052G>T	p.A1018S	Missense	21/28	-	1
12-420215-C-T	c.3052G>A	p.A1018T	Missense	21/28	-	2
12-420219-A-C	c.3048T>G	p.N1016K	Missense	21/28	-	1
12-420219-A-G	c.3048T>C	p.N1016=	Synonymous	21/28	-	1
12-420223-C-A	c.3044G>T	p.S1015I	Missense	21/28	-	1
12-420223-C-G	c.3044G>C	p.S1015T	Missense	21/28	-	1
12-420223-C-T	c.3044G>A	p.S1015N	Missense	21/28	-	1
12-420223-GC-G	c.3044del	p.S1015Tfs*33	Frameshift	21/28	-	1
12-420224-T-C	c.3043A>G	p.S1015G	Missense	21/28	-	1
12-420226-C-A	c.3041G>T	p.G1014V	Missense	21/28	-	1
12-420226-C-T	c.3041G>A	p.G1014D	Missense	21/28	-	1
12-420227-C-T	c.3040G>A	p.G1014S	Missense	21/28	-	1
12-420228-CA-C	c.3039del	p.S1013Rfs*35	Frameshift	21/28	-	1
12-420229-C-CT	c.3037dup	p.S1013Kfs*12	SpliceAcceptorInsertion	-	-	1
12-420239-C-T	c.3037-9G>A	-	IntronicSNV	-	20/27	1
12-420429-G-A	c.3037-199C>T	-	IntronicSNV	-	20/27	1
12-421394-T-C	c.3036+828A>G	-	IntronicSNV	-	20/27	1
12-422176-A-G	c.3036+46T>C	-	IntronicSNV	-	20/27	1
12-422222-C-A	c.3036G>T	p.Q1012H	Missense	20/28	-	1
12-422222-C-G	c.3036G>C	p.Q1012H	Missense	20/28	-	1
12-422226-A-C	c.3032T>G	p.I1011S	Missense	20/28	-	1
12-422226-A-G	c.3032T>C	p.I1011T	Missense	20/28	-	1
12-422236-C-T	c.3022G>A	p.V1008M	Missense	20/28	-	2
12-422239-T-C	c.3019A>G	p.K1007E	Missense	20/28	-	1
12-422242-C-A	c.3016G>T	p.A1006S	Missense	20/28	-	1
12-422242-C-T	c.3016G>A	p.A1006T	Missense	20/28	-	5
12-422244-G-A	c.3014C>T	p.T1005I	Missense	20/28	-	1
12-422245-T-C	c.3013A>G	p.T1005A	Missense	20/28	-	1
12-422247-C-G	c.3011G>C	p.W1004S	Missense	20/28	-	1
12-422251-C-G	c.3007G>C	p.E1003Q	Missense	20/28	-	1
12-422252-T-A	c.3006A>T	p.R1002=	Synonymous	20/28	-	1
12-422252-TCG-CCA	c.3004_3006delinsTGG	p.R1002W	Missense	20/28	-	1
12-422253-C-T	c.3005G>A	p.R1002Q	Missense	20/28	-	2
12-422254-G-A	c.3004C>T	p.R1002*	Nonsense	20/28	-	1
12-422254-G-C	c.3004C>G	p.R1002G	Missense	20/28	-	1
12-422266-A-C	c.2992T>G	p.L998V	Missense	20/28	-	1
12-422268-G-A	c.2990C>T	p.A997V	Missense	20/28	-	1
12-422269-C-T	c.2989G>A	p.A997T	Missense	20/28	-	1
12-422271-T-A	c.2987A>T	p.E996V	Missense	20/28	-	1
12-422271-T-G	c.2987A>C	p.E996A	Missense	20/28	-	1
12-422272-C-A	c.2986G>T	p.E996*	Nonsense	20/28	-	2
12-422272-C-T	c.2986G>A	p.E996K	Missense	20/28	-	3
12-422273-T-A	c.2985A>T	p.K995N	Missense	20/28	-	1
12-422273-T-G	c.2985A>C	p.K995N	Missense	20/28	-	1
12-422280-G-A	c.2978C>T	p.S993F	Missense	20/28	-	1
12-422280-G-C	c.2978C>G	p.S993C	Missense	20/28	-	1
12-422280-G-T	c.2978C>A	p.S993Y	Missense	20/28	-	1
12-422281-A-G	c.2977T>C	p.S993P	Missense	20/28	-	1
12-422283-A-G	c.2975T>C	p.L992S	Missense	20/28	-	1
12-422284-A-T	c.2974T>A	p.L992M	Missense	20/28	-	1
12-422285-C-A	c.2973G>T	p.V991=	Synonymous	20/28	-	1
12-422285-C-G	c.2973G>C	p.V991=	Synonymous	20/28	-	1
12-422285-C-T	c.2973G>A	p.V991=	Synonymous	20/28	-	1
12-422287-C-A	c.2971G>T	p.V991L	Missense	20/28	-	1
12-422287-C-G	c.2971G>C	p.V991L	Missense	20/28	-	1
12-422290-T-G	c.2968A>C	p.N990H	Missense	20/28	-	1
12-422292-G-A	c.2966C>T	p.P989L	Missense	20/28	-	1
12-422295-A-C	c.2963T>G	p.L988R	Missense	20/28	-	1
12-422295-A-G	c.2963T>C	p.L988P	Missense	20/28	-	1
12-422300-G-A	c.2958C>T	p.A986=	Synonymous	20/28	-	1
12-422301-G-A	c.2957C>T	p.A986V	Missense	20/28	-	2
12-422301-G-C	c.2957C>G	p.A986G	Missense	20/28	-	1
12-422304-G-T	c.2954C>A	p.P985Q	Missense	20/28	-	2
12-422305-G-A	c.2953C>T	p.P985S	Missense	20/28	-	1
12-422305-G-C	c.2953C>G	p.P985A	Missense	20/28	-	1
12-422309-G-A	c.2949C>T	p.N983=	Synonymous	20/28	-	2
12-422312-C-A	c.2946G>T	p.K982N	Missense	20/28	-	1
12-422312-C-G	c.2946G>C	p.K982N	Missense	20/28	-	1
12-422314-T-C	c.2944A>G	p.K982E	Missense	20/28	-	2
12-422317-C-T	c.2941G>A	p.A981T	Missense	20/28	-	1
12-422318-T-A	c.2940A>T	p.E980D	Missense	20/28	-	1
12-422318-T-G	c.2940A>C	p.E980D	Missense	20/28	-	1
12-422320-C-A	c.2938G>T	p.E980*	Nonsense	20/28	-	1
12-422322-T-C	c.2936A>G	p.N979S	Missense	20/28	-	1
12-422325-A-G	c.2933T>C	p.V978A	Missense	20/28	-	2
12-422326-C-T	c.2932G>A	p.V978M	Missense	20/28	-	1
12-422328-A-G	c.2930T>C	p.I977T	Missense	20/28	-	2
12-422330-GC-AT	c.2927_2928delinsAT	p.S976N	Missense	20/28	-	1
12-422331-C-T	c.2927G>A	p.S976N	Missense	20/28	-	1
12-422332-T-A	c.2926A>T	p.S976C	Missense	20/28	-	1
12-422335-C-T	c.2923G>A	p.E975K	Missense	20/28	-	1
12-422340-C-T	c.2918G>A	p.S973N	Missense	20/28	-	1
12-422344-C-T	c.2914G>A	p.A972T	Missense	20/28	-	3
12-422348-A-T	c.2910T>A	p.S970R	Missense	20/28	-	1
12-422349-C-A	c.2909G>T	p.S970I	Missense	20/28	-	2
12-422353-G-A	c.2905C>T	p.H969Y	Missense	20/28	-	1
12-422353-G-T	c.2905C>A	p.H969N	Missense	20/28	-	2
12-422354-C-T	c.2904G>A	p.R968=	Synonymous	20/28	-	1
12-422356-T-G	c.2902A>C	p.R968=	Synonymous	20/28	-	1
12-422357-C-G	c.2901G>C	p.P967=	Synonymous	20/28	-	3
12-422357-C-T	c.2901G>A	p.P967=	Synonymous	20/28	-	3
12-422358-G-A	c.2900C>T	p.P967L	Missense	20/28	-	6
12-422358-G-C	c.2900C>G	p.P967R	Missense	20/28	-	2
12-423827-C-T	c.2898-1467G>A	-	IntronicSNV	-	19/27	1
12-425502-A-C	c.2897+1770T>G	-	IntronicSNV	-	19/27	1
12-425502-A-T	c.2897+1770T>A	-	IntronicSNV	-	19/27	1
12-427077-G-A	c.2897+195C>T	-	IntronicSNV	-	19/27	2
12-427077-G-C	c.2897+195C>G	-	IntronicSNV	-	19/27	1
12-427165-CAA-C	c.2897+105_2897+106del	-	IntronicDeletion	-	19/27	1
12-427165-CA-C	c.2897+106del	-	IntronicDeletion	-	19/27	2
12-427187-A-G	c.2897+85T>C	-	IntronicSNV	-	19/27	2
12-427270-A-G	c.2897+2T>C	-	IntronicSNV	-	19/27	2
12-427275-G-C	c.2894C>G	p.A965G	Missense	19/28	-	1
12-427279-G-A	c.2890C>T	p.Q964*	Nonsense	19/28	-	1
12-427286-G-A	c.2883C>T	p.V961=	Synonymous	19/28	-	1
12-427287-A-G	c.2882T>C	p.V961A	Missense	19/28	-	1
12-427288-C-A	c.2881G>T	p.V961F	Missense	19/28	-	1
12-427288-C-T	c.2881G>A	p.V961I	Missense	19/28	-	1
12-427289-C-T	c.2880G>A	p.K960=	Synonymous	19/28	-	1
12-427300-C-T	c.2869G>A	p.E957K	Missense	19/28	-	1
12-427303-C-A	c.2866G>T	p.E956*	Nonsense	19/28	-	1
12-427308-C-G	c.2861G>C	p.R954P	Missense	19/28	-	1
12-427308-C-T	c.2861G>A	p.R954Q	Missense	19/28	-	5
12-427309-G-A	c.2860C>T	p.R954*	Nonsense	19/28	-	1
12-427312-C-T	c.2857G>A	p.E953K	Missense	19/28	-	1
12-427314-GA-AG	c.2854_2855delinsCT	p.S952L	Missense	19/28	-	1
12-427316-GAC-CAT	c.2851_2853delinsATG	p.V951M	Missense	19/28	-	1
12-427317-A-G	c.2852T>C	p.V951A	Missense	19/28	-	1
12-427319-T-C	c.2850A>G	p.T950=	Synonymous	19/28	-	1
12-427320-G-C	c.2849C>G	p.T950R	Missense	19/28	-	1
12-427321-T-A	c.2848A>T	p.T950S	Missense	19/28	-	1
12-427328-C-T	c.2841G>A	p.E947=	Synonymous	19/28	-	1
12-427329-T-G	c.2840A>C	p.E947A	Missense	19/28	-	2
12-427332-T-C	c.2837A>G	p.Q946R	Missense	19/28	-	1
12-427339-C-T	c.2830G>A	p.E944K	Missense	19/28	-	2
12-427342-C-G	c.2827G>C	p.A943P	Missense	19/28	-	2
12-427342-C-T	c.2827G>A	p.A943T	Missense	19/28	-	1
12-427345-T-C	c.2824A>G	p.M942V	Missense	19/28	-	1
12-427348-C-T	c.2821G>A	p.A941T	Missense	19/28	-	2
12-427353-T-C	c.2816A>G	p.E939G	Missense	19/28	-	2
12-427354-C-G	c.2815G>C	p.E939Q	Missense	19/28	-	10
12-427356-A-G	c.2813T>C	p.V938A	Missense	19/28	-	1
12-427360-C-A	c.2809G>T	p.A937S	Missense	19/28	-	1
12-427360-C-G	c.2809G>C	p.A937P	Missense	19/28	-	1
12-427363-G-C	c.2806C>G	p.H936D	Missense	19/28	-	1
12-427365-T-A	c.2804A>T	p.H935L	Missense	19/28	-	2
12-427371-G-A	c.2798C>T	p.A933V	Missense	19/28	-	1
12-427376-CC-GT	c.2792_2793delinsAC	p.G931D	Missense	19/28	-	1
12-427377-C-A	c.2792G>T	p.G931V	Missense	19/28	-	1
12-427378-C-T	c.2791G>A	p.G931R	Missense	19/28	-	2
12-427381-C-T	c.2788G>A	p.V930I	Missense	19/28	-	1
12-427384-C-A	c.2785G>T	p.G929W	Missense	19/28	-	1
12-427387-A-T	c.2782T>A	p.S928T	Missense	19/28	-	1
12-427388-G-A	c.2781C>T	p.D927=	Synonymous	19/28	-	1
12-427393-T-C	c.2776A>G	p.I926V	Missense	19/28	-	1
12-427394-C-G	c.2775G>C	p.L925=	Synonymous	19/28	-	2
12-427398-T-G	c.2771A>C	p.K924T	Missense	19/28	-	1
12-427400-C-A	c.2769G>T	p.K923N	Missense	19/28	-	1
12-427403-C-T	c.2766G>A	p.M922I	Missense	19/28	-	1
12-427405-T-A	c.2764A>T	p.M922L	Missense	19/28	-	1
12-427405-T-C	c.2764A>G	p.M922V	Missense	19/28	-	2
12-427405-T-G	c.2764A>C	p.M922L	Missense	19/28	-	2
12-427406-G-A	c.2763C>T	p.V921=	Synonymous	19/28	-	1
12-427411-C-A	c.2758G>T	p.D920Y	Missense	19/28	-	2
12-427411-C-T	c.2758G>A	p.D920N	Missense	19/28	-	2
12-427412-C-A	c.2757G>T	p.L919F	Missense	19/28	-	1
12-427412-C-G	c.2757G>C	p.L919F	Missense	19/28	-	1
12-427412-C-T	c.2757G>A	p.L919=	Synonymous	19/28	-	1
12-427414-AAAGT-A	c.2752_2755del	p.T918Wfs*4	Frameshift	19/28	-	1
12-427414-A-C	c.2755T>G	p.L919V	Missense	19/28	-	1
12-427416-G-A	c.2753C>T	p.T918I	Missense	19/28	-	1
12-427417-T-A	c.2752A>T	p.T918S	Missense	19/28	-	1
12-427420-C-T	c.2749G>A	p.V917I	Missense	19/28	-	1
12-427424-T-A	c.2745A>T	p.Q915H	Missense	19/28	-	2
12-427424-T-C	c.2745A>G	p.Q915=	Synonymous	19/28	-	1
12-427425-T-C	c.2744A>G	p.Q915R	Missense	19/28	-	2
12-427425-T-G	c.2744A>C	p.Q915P	Missense	19/28	-	1
12-427428-G-A	c.2741C>T	p.P914L	Missense	19/28	-	3
12-427432-C-G	c.2737G>C	p.D913H	Missense	19/28	-	1
12-427432-C-T	c.2737G>A	p.D913N	Missense	19/28	-	2
12-427435-A-G	c.2734T>C	p.S912P	Missense	19/28	-	1
12-427436-T-G	c.2733A>C	p.L911F	Missense	19/28	-	1
12-427442-CAG-GAT	c.2725_2727delinsATC	p.L909I	Missense	19/28	-	1
12-427446-C-G	c.2723G>C	p.R908T	Missense	19/28	-	1
12-427447-T-C	c.2722A>G	p.R908G	Missense	19/28	-	1
12-427451-T-A	c.2718A>T	p.E906D	Missense	19/28	-	1
12-427451-T-G	c.2718A>C	p.E906D	Missense	19/28	-	2
12-427453-C-A	c.2716G>T	p.E906*	Nonsense	19/28	-	3
12-427453-C-T	c.2716G>A	p.E906K	Missense	19/28	-	6
12-427454-G-A	c.2715C>T	p.D905=	Synonymous	19/28	-	3
12-427454-G-T	c.2715C>A	p.D905E	Missense	19/28	-	1
12-427456-C-A	c.2713G>T	p.D905Y	Missense	19/28	-	1
12-427456-C-T	c.2713G>A	p.D905N	Missense	19/28	-	1
12-427457-C-A	c.2712G>T	p.L904F	Missense	19/28	-	1
12-427457-C-G	c.2712G>C	p.L904F	Missense	19/28	-	1
12-427461-C-T	c.2708G>A	p.W903*	Nonsense	19/28	-	1
12-427464-C-G	c.2705G>C	p.R902P	Missense	19/28	-	1
12-427464-C-T	c.2705G>A	p.R902Q	Missense	19/28	-	1
12-427465-G-A	c.2704C>T	p.R902W	Missense	19/28	-	2
12-427468-C-A	c.2701G>T	p.A901S	Missense	19/28	-	1
12-427471-G-A	c.2698C>T	p.Q900*	Nonsense	19/28	-	1
12-427475-T-C	c.2694A>G	p.L898=	Synonymous	19/28	-	1
12-427479-T-C	c.2690A>G	p.E897G	Missense	19/28	-	1
12-427484-C-T	c.2685G>A	p.K895=	Synonymous	19/28	-	2
12-427487-C-A	c.2682G>T	p.L894=	Synonymous	19/28	-	1
12-427487-C-G	c.2682G>C	p.L894=	Synonymous	19/28	-	1
12-427487-C-T	c.2682G>A	p.L894=	Synonymous	19/28	-	2
12-427489-G-A	c.2680C>T	p.L894=	Synonymous	19/28	-	1
12-427491-C-A	c.2678G>T	p.R893L	Missense	19/28	-	2
12-427491-C-T	c.2678G>A	p.R893Q	Missense	19/28	-	6
12-427493-T-A	c.2676A>T	p.P892=	Synonymous	19/28	-	1
12-427495-G-A	c.2674C>T	p.P892S	Missense	19/28	-	4
12-427501-C-A	c.2668G>T	p.E890*	Nonsense	19/28	-	1
12-427503-G-A	c.2666C>T	p.P889L	Missense	19/28	-	1
12-427503-G-C	c.2666C>G	p.P889R	Missense	19/28	-	2
12-427505-G-A	c.2664C>T	p.L888=	Synonymous	19/28	-	1
12-427506-A-T	c.2663T>A	p.L888H	Missense	19/28	-	1
12-427507-G-A	c.2662C>T	p.L888F	Missense	19/28	-	1
12-427510-C-T	c.2659G>A	p.E887K	Missense	19/28	-	1
12-427515-T-A	c.2654A>T	p.Y885F	Missense	19/28	-	1
12-427515-T-C	c.2654A>G	p.Y885C	Missense	19/28	-	1
12-427522-T-C	c.2647A>G	p.S883G	Missense	19/28	-	1
12-427524-G-A	c.2645C>T	p.S882F	Missense	19/28	-	1
12-427524-G-C	c.2645C>G	p.S882C	Missense	19/28	-	1
12-427525-A-G	c.2644T>C	p.S882P	Missense	19/28	-	1
12-427526-G-A	c.2643C>T	p.G881=	Synonymous	19/28	-	1
12-427527-C-A	c.2642G>T	p.G881V	Missense	19/28	-	1
12-427527-C-G	c.2642G>C	p.G881A	Missense	19/28	-	1
12-427527-C-T	c.2642G>A	p.G881D	Missense	19/28	-	1
12-427530-A-G	c.2639T>C	p.M880T	Missense	19/28	-	1
12-427530-A-T	c.2639T>A	p.M880K	Missense	19/28	-	1
12-427531-T-C	c.2638A>G	p.M880V	Missense	19/28	-	1
12-427532-A-C	c.2637T>G	p.D879E	Missense	19/28	-	1
12-427533-T-C	c.2636A>G	p.D879G	Missense	19/28	-	1
12-427534-C-T	c.2635G>A	p.D879N	Missense	19/28	-	1
12-427535-T-A	c.2634A>T	p.I878=	Synonymous	19/28	-	1
12-427536-A-G	c.2633T>C	p.I878T	Missense	19/28	-	1
12-427537-T-C	c.2632A>G	p.I878V	Missense	19/28	-	2
12-427537-T-G	c.2632A>C	p.I878L	Missense	19/28	-	1
12-427538-C-G	c.2631G>C	p.L877F	Missense	19/28	-	1
12-427538-C-T	c.2631G>A	p.L877=	Synonymous	19/28	-	1
12-427541-C-A	c.2628G>T	p.M876I	Missense	19/28	-	2
12-427541-C-G	c.2628G>C	p.M876I	Missense	19/28	-	2
12-427541-C-T	c.2628G>A	p.M876I	Missense	19/28	-	4
12-427542-A-G	c.2627T>C	p.M876T	Missense	19/28	-	1
12-427543-T-G	c.2626A>C	p.M876L	Missense	19/28	-	1
12-427545-T-C	c.2624A>G	p.Q875R	Missense	19/28	-	1
12-427548-A-T	c.2621T>A	p.L874H	Missense	19/28	-	1
12-427549-G-A	c.2620C>T	p.L874F	Missense	19/28	-	1
12-427551-T-C	c.2618A>G	p.K873R	Missense	19/28	-	1
12-427557-G-C	c.2612C>G	p.S871C	Missense	19/28	-	1
12-427557-G-T	c.2612C>A	p.S871Y	Missense	19/28	-	1
12-427559-A-C	c.2610T>G	p.D870E	Missense	19/28	-	1
12-427559-A-G	c.2610T>C	p.D870=	Synonymous	19/28	-	2
12-427560-T-G	c.2609A>C	p.D870A	Missense	19/28	-	1
12-427561-C-T	c.2608G>A	p.D870N	Missense	19/28	-	1
12-427565-G-A	c.2604C>T	p.T868=	Synonymous	19/28	-	1
12-427565-G-C	c.2604C>G	p.T868=	Synonymous	19/28	-	1
12-427565-G-T	c.2604C>A	p.T868=	Synonymous	19/28	-	1
12-427570-C-T	c.2599G>A	p.E867K	Missense	19/28	-	1
12-427573-C-T	c.2596G>A	p.D866N	Missense	19/28	-	1
12-427575-A-C	c.2594T>G	p.M865R	Missense	19/28	-	10
12-427575-A-G	c.2594T>C	p.M865T	Missense	19/28	-	46
12-427579-T-A	c.2590A>T	p.M864L	Missense	19/28	-	1
12-427582-C-T	c.2587G>A	p.A863T	Missense	19/28	-	2
12-427585-C-T	c.2584G>A	p.E862K	Missense	19/28	-	1
12-427586-C-T	c.2583G>A	p.Q861=	Synonymous	19/28	-	2
12-427587-T-C	c.2582A>G	p.Q861R	Missense	19/28	-	1
12-427588-G-A	c.2581C>T	p.Q861*	Nonsense	19/28	-	1
12-427590-G-A	c.2579C>T	p.A860V	Missense	19/28	-	1
12-427592-ACG-CCA	c.2575_2577delinsTGG	p.R859W	Missense	19/28	-	1
12-427594-G-A	c.2575C>T	p.R859C	Missense	19/28	-	2
12-427599-T-C	c.2570A>G	p.H857R	Missense	19/28	-	2
12-427599-T-G	c.2570A>C	p.H857P	Missense	19/28	-	1
12-427600-G-C	c.2569C>G	p.H857D	Missense	19/28	-	1
12-427605-T-A	c.2564A>T	p.E855V	Missense	19/28	-	3
12-427606-C-G	c.2563G>C	p.E855Q	Missense	19/28	-	1
12-427609-C-A	c.2560G>T	p.E854*	Nonsense	19/28	-	1
12-427609-C-T	c.2560G>A	p.E854K	Missense	19/28	-	2
12-427612-C-T	c.2557G>A	p.V853M	Missense	19/28	-	1
12-427615-C-T	c.2554G>A	p.D852N	Missense	19/28	-	1
12-427617-T-C	c.2552A>G	p.D851G	Missense	19/28	-	1
12-427627-T-G	c.2542A>C	p.N848H	Missense	19/28	-	1
12-428779-G-A	c.2542-1152C>T	-	IntronicSNV	-	18/27	1
12-430078-T-A	c.2541+83A>T	-	IntronicSNV	-	18/27	1
12-430093-C-T	c.2541+68G>A	-	IntronicSNV	-	18/27	1
12-430125-A-G	c.2541+36T>C	-	IntronicSNV	-	18/27	1
12-430160-C-A	c.2541+1G>T	-	IntronicSNV	-	18/27	1
12-430166-C-G	c.2536G>C	p.V846L	Missense	18/28	-	1
12-430166-C-T	c.2536G>A	p.V846I	Missense	18/28	-	1
12-430170-CC-AT	c.2531_2532delinsAT	p.R844H	Missense	18/28	-	1
12-430170-CCG-ACA	c.2530_2532delinsTGT	p.R844C	Missense	18/28	-	2
12-430171-C-A	c.2531G>T	p.R844L	Missense	18/28	-	1
12-430171-C-T	c.2531G>A	p.R844Q	Missense	18/28	-	8
12-430172-G-A	c.2530C>T	p.R844W	Missense	18/28	-	2
12-430172-G-T	c.2530C>A	p.R844=	Synonymous	18/28	-	1
12-430174-G-A	c.2528C>T	p.A843V	Missense	18/28	-	1
12-430175-C-T	c.2527G>A	p.A843T	Missense	18/28	-	1
12-430182-G-A	c.2520C>T	p.I840=	Synonymous	18/28	-	1
12-430183-A-G	c.2519T>C	p.I840T	Missense	18/28	-	2
12-430187-C-G	c.2515G>C	p.V839L	Missense	18/28	-	1
12-430187-C-T	c.2515G>A	p.V839I	Missense	18/28	-	1
12-430190-A-C	c.2512T>G	p.C838G	Missense	18/28	-	1
12-430191-C-A	c.2511G>T	p.P837=	Synonymous	18/28	-	2
12-430191-C-G	c.2511G>C	p.P837=	Synonymous	18/28	-	2
12-430191-C-T	c.2511G>A	p.P837=	Synonymous	18/28	-	6
12-430192-G-A	c.2510C>T	p.P837L	Missense	18/28	-	2
12-430192-G-T	c.2510C>A	p.P837Q	Missense	18/28	-	2
12-430197-A-C	c.2505T>G	p.S835R	Missense	18/28	-	1
12-430197-A-T	c.2505T>A	p.S835R	Missense	18/28	-	1
12-430199-T-G	c.2503A>C	p.S835R	Missense	18/28	-	1
12-430201-A-G	c.2501T>C	p.F834S	Missense	18/28	-	1
12-430201-A-T	c.2501T>A	p.F834Y	Missense	18/28	-	1
12-430202-A-C	c.2500T>G	p.F834V	Missense	18/28	-	1
12-430202-A-G	c.2500T>C	p.F834L	Missense	18/28	-	1
12-430203-A-G	c.2499T>C	p.L833=	Synonymous	18/28	-	1
12-430211-G-A	c.2491C>T	p.Q831*	Nonsense	18/28	-	1
12-430210-TG-T	c.2491del	p.Q831Nfs*16	Frameshift	18/28	-	1
12-430212-G-A	c.2490C>T	p.V830=	Synonymous	18/28	-	1
12-430212-G-C	c.2490C>G	p.V830=	Synonymous	18/28	-	1
12-430212-G-T	c.2490C>A	p.V830=	Synonymous	18/28	-	1
12-430215-A-G	c.2487T>C	p.F829=	Synonymous	18/28	-	1
12-430224-C-T	c.2478G>A	p.L826=	Synonymous	18/28	-	1
12-430226-A-C	c.2476T>G	p.L826V	Missense	18/28	-	1
12-430226-A-G	c.2476T>C	p.L826=	Synonymous	18/28	-	1
12-430229-C-A	c.2473G>T	p.E825*	Nonsense	18/28	-	4
12-430229-C-T	c.2473G>A	p.E825K	Missense	18/28	-	1
12-430232-C-T	c.2470G>A	p.E824K	Missense	18/28	-	2
12-430233-C-T	c.2469G>A	p.V823=	Synonymous	18/28	-	1
12-430235-C-T	c.2467G>A	p.V823M	Missense	18/28	-	1
12-430238-T-A	c.2464A>T	p.T822S	Missense	18/28	-	1
12-430238-T-C	c.2464A>G	p.T822A	Missense	18/28	-	1
12-430240-A-G	c.2462T>C	p.L821P	Missense	18/28	-	1
12-430243-T-G	c.2459A>C	p.K820T	Missense	18/28	-	2
12-430244-T-C	c.2458A>G	p.K820E	Missense	18/28	-	1
12-430245-GGT-TTA	c.2455_2457delinsTAA	p.T819*	Nonsense	18/28	-	1
12-430247-T-C	c.2455A>G	p.T819A	Missense	18/28	-	1
12-430248-C-A	c.2454G>T	p.R818=	Synonymous	18/28	-	1
12-430249-C-G	c.2453G>C	p.R818P	Missense	18/28	-	1
12-430249-C-T	c.2453G>A	p.R818Q	Missense	18/28	-	3
12-430252-G-A	c.2450C>T	p.T817I	Missense	18/28	-	1
12-430253-T-C	c.2449A>G	p.T817A	Missense	18/28	-	1
12-430253-T-G	c.2449A>C	p.T817P	Missense	18/28	-	1
12-430255-C-T	c.2447G>A	p.R816K	Missense	18/28	-	2
12-430256-T-A	c.2446A>T	p.R816W	Missense	18/28	-	1
12-430257-C-A	c.2445G>T	p.G815=	Synonymous	18/28	-	1
12-430257-C-G	c.2445G>C	p.G815=	Synonymous	18/28	-	1
12-430257-C-T	c.2445G>A	p.G815=	Synonymous	18/28	-	1
12-430258-C-A	c.2444G>T	p.G815V	Missense	18/28	-	1
12-430259-C-T	c.2443G>A	p.G815R	Missense	18/28	-	1
12-430262-T-C	c.2440A>G	p.S814G	Missense	18/28	-	1
12-430264-T-A	c.2438A>T	p.D813V	Missense	18/28	-	1
12-430268-G-A	c.2434C>T	p.P812S	Missense	18/28	-	1
12-430269-G-A	c.2433C>T	p.S811=	Synonymous	18/28	-	1
12-430270-CT-AA	c.2431_2432delinsTT	p.S811F	Missense	18/28	-	1
12-430273-T-C	c.2429A>G	p.Q810R	Missense	18/28	-	1
12-430274-G-A	c.2428C>T	p.Q810*	Nonsense	18/28	-	1
12-430275-T-C	c.2427A>G	p.R809=	Synonymous	18/28	-	1
12-431558-A-T	c.2426+25T>A	-	IntronicSNV	-	17/27	1
12-431577-GGTTTACCTGTGTTT-G	c.2419_2426+6del	-	SpliceDonorDeletion	17/28	17/27	1
12-431584-T-C	c.2425A>G	p.R809G	Missense	17/28	-	1
12-431585-G-C	c.2424C>G	p.H808Q	Missense	17/28	-	3
12-431586-T-A	c.2423A>T	p.H808L	Missense	17/28	-	15
12-431587-G-A	c.2422C>T	p.H808Y	Missense	17/28	-	1
12-431591-C-T	c.2418G>A	p.Q806=	Synonymous	17/28	-	3
12-431592-T-C	c.2417A>G	p.Q806R	Missense	17/28	-	2
12-431601-C-G	c.2408G>C	p.S803T	Missense	17/28	-	2
12-431602-T-C	c.2407A>G	p.S803G	Missense	17/28	-	1
12-431606-A-C	c.2403T>G	p.L801=	Synonymous	17/28	-	1
12-431606-A-G	c.2403T>C	p.L801=	Synonymous	17/28	-	1
12-431606-A-T	c.2403T>A	p.L801=	Synonymous	17/28	-	1
12-431609-C-A	c.2400G>T	p.L800=	Synonymous	17/28	-	1
12-431609-C-G	c.2400G>C	p.L800=	Synonymous	17/28	-	1
12-431609-C-T	c.2400G>A	p.L800=	Synonymous	17/28	-	1
12-431611-G-A	c.2398C>T	p.L800=	Synonymous	17/28	-	1
12-431614-G-A	c.2395C>T	p.Q799*	Nonsense	17/28	-	2
12-431618-CAC-GAT	c.2389_2391delinsATC	p.V797I	Missense	17/28	-	1
12-431619-A-G	c.2390T>C	p.V797A	Missense	17/28	-	1
12-431620-C-T	c.2389G>A	p.V797M	Missense	17/28	-	1
12-431621-A-C	c.2388T>G	p.S796=	Synonymous	17/28	-	1
12-431621-A-G	c.2388T>C	p.S796=	Synonymous	17/28	-	1
12-431621-A-T	c.2388T>A	p.S796=	Synonymous	17/28	-	1
12-431622-G-A	c.2387C>T	p.S796F	Missense	17/28	-	1
12-431625-G-C	c.2384C>G	p.A795G	Missense	17/28	-	3
12-431627-A-C	c.2382T>G	p.C794W	Missense	17/28	-	1
12-431630-G-T	c.2379C>A	p.T793=	Synonymous	17/28	-	1
12-431637-G-A	c.2372C>T	p.A791V	Missense	17/28	-	1
12-431640-T-G	c.2369A>C	p.E790A	Missense	17/28	-	1
12-431641-C-T	c.2368G>A	p.E790K	Missense	17/28	-	1
12-431642-T-A	c.2367A>T	p.K789N	Missense	17/28	-	1
12-431642-T-G	c.2367A>C	p.K789N	Missense	17/28	-	1
12-431645-T-A	c.2364A>T	p.V788=	Synonymous	17/28	-	1
12-431645-T-C	c.2364A>G	p.V788=	Synonymous	17/28	-	1
12-431645-T-G	c.2364A>C	p.V788=	Synonymous	17/28	-	1
12-431647-C-G	c.2362G>C	p.V788L	Missense	17/28	-	2
12-431647-C-T	c.2362G>A	p.V788I	Missense	17/28	-	2
12-431649-G-A	c.2360C>T	p.A787V	Missense	17/28	-	1
12-431652-T-A	c.2357A>T	p.D786V	Missense	17/28	-	2
12-431654-C-T	c.2355G>A	p.R785=	Synonymous	17/28	-	2
12-431656-T-G	c.2353A>C	p.R785=	Synonymous	17/28	-	1
12-431655-C-A	c.2354G>T	p.R785M	Missense	17/28	-	1
12-431655-C-T	c.2354G>A	p.R785K	Missense	17/28	-	1
12-431658-A-T	c.2351T>A	p.L784H	Missense	17/28	-	1
12-431661-T-G	c.2348A>C	p.K783T	Missense	17/28	-	1
12-431664-C-T	c.2345G>A	p.R782Q	Missense	17/28	-	13
12-431665-G-A	c.2344C>T	p.R782*	Nonsense	17/28	-	4
12-431665-G-C	c.2344C>G	p.R782G	Missense	17/28	-	1
12-431665-G-T	c.2344C>A	p.R782=	Synonymous	17/28	-	1
12-431669-G-A	c.2340C>T	p.L780=	Synonymous	17/28	-	1
12-431670-A-C	c.2339T>G	p.L780R	Missense	17/28	-	1
12-431671-G-C	c.2338C>G	p.L780V	Missense	17/28	-	1
12-431673-T-C	c.2336A>G	p.D779G	Missense	17/28	-	1
12-431676-T-C	c.2333A>G	p.N778S	Missense	17/28	-	1
12-431676-T-G	c.2333A>C	p.N778T	Missense	17/28	-	1
12-431679-T-G	c.2330A>C	p.E777A	Missense	17/28	-	1
12-431680-C-A	c.2329G>T	p.E777*	Nonsense	17/28	-	1
12-431682-G-T	c.2327C>A	p.P776Q	Missense	17/28	-	1
12-431683-G-A	c.2326C>T	p.P776S	Missense	17/28	-	1
12-431684-G-GGAT	c.2324_2325insATC	p.Y775delins*	Nonsense	17/28	-	1
12-431684-G-T	c.2325C>A	p.Y775*	Nonsense	17/28	-	1
12-431691-C-A	c.2318G>T	p.R773M	Missense	17/28	-	1
12-431691-C-T	c.2318G>A	p.R773K	Missense	17/28	-	1
12-431691-CT-AG	c.2317_2318inv	p.R773L	Missense	17/28	-	1
12-431692-T-A	c.2317A>T	p.R773W	Missense	17/28	-	1
12-431694-T-A	c.2315A>T	p.D772V	Missense	17/28	-	1
12-431694-T-G	c.2315A>C	p.D772A	Missense	17/28	-	2
12-431695-C-G	c.2314G>C	p.D772H	Missense	17/28	-	1
12-431696-C-A	c.2313G>T	p.E771D	Missense	17/28	-	1
12-431696-C-T	c.2313G>A	p.E771=	Synonymous	17/28	-	1
12-431697-T-C	c.2312A>G	p.E771G	Missense	17/28	-	1
12-431698-C-A	c.2311G>T	p.E771*	Nonsense	17/28	-	2
12-431698-C-T	c.2311G>A	p.E771K	Missense	17/28	-	1
12-431701-C-A	c.2308G>T	p.A770S	Missense	17/28	-	1
12-431701-C-T	c.2308G>A	p.A770T	Missense	17/28	-	1
12-431711-C-A	c.2298G>T	p.M766I	Missense	17/28	-	1
12-431712-A-T	c.2297T>A	p.M766K	Missense	17/28	-	1
12-431713-T-A	c.2296A>T	p.M766L	Missense	17/28	-	2
12-431717-TCG-ACA	c.2290_2292delinsTGT	p.R764C	Missense	17/28	-	1
12-431717-T-G	c.2292A>C	p.R764=	Synonymous	17/28	-	2
12-431718-C-T	c.2291G>A	p.R764Q	Missense	17/28	-	3
12-431719-G-A	c.2290C>T	p.R764*	Nonsense	17/28	-	5
12-431719-G-T	c.2290C>A	p.R764=	Synonymous	17/28	-	1
12-431722-A-C	c.2287T>G	p.L763V	Missense	17/28	-	3
12-431725-C-A	c.2284G>T	p.E762*	Nonsense	17/28	-	1
12-431731-A-G	c.2278T>C	p.L760=	Synonymous	17/28	-	1
12-431731-A-T	c.2278T>A	p.L760M	Missense	17/28	-	1
12-431732-A-T	c.2277T>A	p.D759E	Missense	17/28	-	1
12-431732-A-AT	c.2276dup	p.D759Efs*4	SpliceAcceptorInsertion	-	-	1
12-431783-A-G	c.2276-50T>C	-	IntronicSNV	-	16/27	1
12-432033-G-T	c.2275+215C>A	-	IntronicSNV	-	16/27	1
12-432161-C-A	c.2275+87G>T	-	IntronicSNV	-	16/27	1
12-432161-C-T	c.2275+87G>A	-	IntronicSNV	-	16/27	2
12-432200-A-G	c.2275+48T>C	-	IntronicSNV	-	16/27	2
12-432240-A-C	c.2275+8T>G	-	IntronicSNV	-	16/27	1
12-432251-T-C	c.2272A>G	p.K758E	Missense	16/28	-	1
12-432248-C-CT	c.2274dup	p.D759Rfs*4	SpliceDonorInsertion	16/28	-	2
12-432248-CT-C	c.2274del	p.D759Ifs*2	Frameshift	16/28	-	1
12-432259-T-A	c.2264A>T	p.N755I	Missense	16/28	-	2
12-432259-T-C	c.2264A>G	p.N755S	Missense	16/28	-	1
12-432265-T-C	c.2258A>G	p.N753S	Missense	16/28	-	1
12-432268-G-A	c.2255C>T	p.A752V	Missense	16/28	-	1
12-432271-G-T	c.2252C>A	p.S751Y	Missense	16/28	-	1
12-432272-A-T	c.2251T>A	p.S751T	Missense	16/28	-	1
12-432278-C-G	c.2245G>C	p.A749P	Missense	16/28	-	2
12-432281-C-T	c.2242G>A	p.E748K	Missense	16/28	-	1
12-432284-T-C	c.2239A>G	p.T747A	Missense	16/28	-	1
12-432286-A-C	c.2237T>G	p.V746G	Missense	16/28	-	1
12-432289-C-T	c.2234G>A	p.R745H	Missense	16/28	-	1
12-432290-G-A	c.2233C>T	p.R745C	Missense	16/28	-	4
12-432290-G-C	c.2233C>G	p.R745G	Missense	16/28	-	1
12-432293-T-C	c.2230A>G	p.S744G	Missense	16/28	-	1
12-432293-T-G	c.2230A>C	p.S744R	Missense	16/28	-	1
12-432294-G-A	c.2229C>T	p.V743=	Synonymous	16/28	-	2
12-432294-G-C	c.2229C>G	p.V743=	Synonymous	16/28	-	2
12-432294-G-T	c.2229C>A	p.V743=	Synonymous	16/28	-	2
12-432297-C-A	c.2226G>T	p.W742C	Missense	16/28	-	2
12-432297-C-G	c.2226G>C	p.W742C	Missense	16/28	-	2
12-432298-C-A	c.2225G>T	p.W742L	Missense	16/28	-	4
12-432301-G-A	c.2222C>T	p.T741I	Missense	16/28	-	1
12-432302-T-A	c.2221A>T	p.T741S	Missense	16/28	-	1
12-432305-C-A	c.2218G>T	p.D740Y	Missense	16/28	-	1
12-432307-T-C	c.2216A>G	p.Y739C	Missense	16/28	-	2
12-432309-G-A	c.2214C>T	p.S738=	Synonymous	16/28	-	1
12-432310-G-A	c.2213C>T	p.S738F	Missense	16/28	-	1
12-432312-C-A	c.2211G>T	p.Q737H	Missense	16/28	-	1
12-432312-C-G	c.2211G>C	p.Q737H	Missense	16/28	-	1
12-432313-T-C	c.2210A>G	p.Q737R	Missense	16/28	-	1
12-432313-T-G	c.2210A>C	p.Q737P	Missense	16/28	-	1
12-432317-C-A	c.2206G>T	p.A736S	Missense	16/28	-	1
12-432317-C-T	c.2206G>A	p.A736T	Missense	16/28	-	2
12-432318-C-A	c.2205G>T	p.R735S	Missense	16/28	-	4
12-432318-C-G	c.2205G>C	p.R735S	Missense	16/28	-	2
12-432319-CT-TA	c.2203_2204delinsTA	p.R735*	Nonsense	16/28	-	1
12-432323-C-T	c.2200G>A	p.V734I	Missense	16/28	-	3
12-432325-T-C	c.2198A>G	p.K733R	Missense	16/28	-	1
12-432331-C-T	c.2192G>A	p.G731D	Missense	16/28	-	1
12-432332-C-A	c.2191G>T	p.G731C	Missense	16/28	-	3
12-432334-T-A	c.2189A>T	p.Y730F	Missense	16/28	-	1
12-432335-A-G	c.2188T>C	p.Y730H	Missense	16/28	-	1
12-432341-G-T	c.2182C>A	p.L728M	Missense	16/28	-	1
12-432343-G-A	c.2180C>T	p.S727F	Missense	16/28	-	1
12-432347-G-T	c.2176C>A	p.P726T	Missense	16/28	-	1
12-432348-G-A	c.2175C>T	p.L725=	Synonymous	16/28	-	2
12-432348-G-C	c.2175C>G	p.L725=	Synonymous	16/28	-	2
12-432348-G-T	c.2175C>A	p.L725=	Synonymous	16/28	-	2
12-432351-G-T	c.2172C>A	p.D724E	Missense	16/28	-	1
12-432352-T-A	c.2171A>T	p.D724V	Missense	16/28	-	1
12-432353-C-A	c.2170G>T	p.D724Y	Missense	16/28	-	1
12-432353-C-T	c.2170G>A	p.D724N	Missense	16/28	-	1
12-432357-T-A	c.2166A>T	p.L722F	Missense	16/28	-	1
12-432357-T-G	c.2166A>C	p.L722F	Missense	16/28	-	1
12-432357-T-C	c.2166A>G	p.L722=	Synonymous	16/28	-	1
12-432359-A-G	c.2164T>C	p.L722=	Synonymous	16/28	-	1
12-432360-T-G	c.2163A>C	p.P721=	Synonymous	16/28	-	1
12-432362-G-A	c.2161C>T	p.P721S	Missense	16/28	-	1
12-432362-G-T	c.2161C>A	p.P721T	Missense	16/28	-	2
12-432363-G-A	c.2160C>T	p.Y720=	Synonymous	16/28	-	3
12-432364-T-A	c.2159A>T	p.Y720F	Missense	16/28	-	1
12-432364-T-C	c.2159A>G	p.Y720C	Missense	16/28	-	1
12-432365-A-G	c.2158T>C	p.Y720H	Missense	16/28	-	1
12-432366-G-A	c.2157C>T	p.R719=	Synonymous	16/28	-	1
12-432366-G-T	c.2157C>A	p.R719=	Synonymous	16/28	-	1
12-432367-C-A	c.2156G>T	p.R719L	Missense	16/28	-	1
12-432367-C-T	c.2156G>A	p.R719H	Missense	16/28	-	3
12-432368-G-A	c.2155C>T	p.R719C	Missense	16/28	-	17
12-432368-G-C	c.2155C>G	p.R719G	Missense	16/28	-	2
12-432369-A-AAACTC	c.2153_2154insGAGTT	p.Y718*	Nonsense	16/28	-	1
12-432371-A-G	c.2152T>C	p.Y718H	Missense	16/28	-	1
12-432371-A-T	c.2152T>A	p.Y718N	Missense	16/28	-	3
12-432376-C-A	c.2151-4G>T	-	IntronicSNV	-	15/27	1
12-432406-G-A	c.2151-34C>T	-	IntronicSNV	-	15/27	3
12-432579-A-T	c.2150+187T>A	-	IntronicSNV	-	15/27	1
12-432643-G-A	c.2150+123C>T	-	IntronicSNV	-	15/27	2
12-432647-T-C	c.2150+119A>G	-	IntronicSNV	-	15/27	1
12-432654-T-A	c.2150+112A>T	-	IntronicSNV	-	15/27	6
12-432666-G-C	c.2150+100C>G	-	IntronicSNV	-	15/27	6
12-432713-A-T	c.2150+53T>A	-	IntronicSNV	-	15/27	1
12-432724-T-TA	c.2150+41dup	-	IntronicInsertion	-	15/27	1
12-432766-C-G	c.2150G>C	p.R717T	Missense	15/28	-	1
12-432766-CT-TG	c.2149_2150delinsCA	p.R717Q	Missense	15/28	-	1
12-432770-G-T	c.2146C>A	p.L716I	Missense	15/28	-	1
12-432771-A-G	c.2145T>C	p.C715=	Synonymous	15/28	-	2
12-432776-T-G	c.2140A>C	p.K714Q	Missense	15/28	-	1
12-432777-C-A	c.2139G>T	p.K713N	Missense	15/28	-	3
12-432777-C-G	c.2139G>C	p.K713N	Missense	15/28	-	3
12-432782-G-A	c.2134C>T	p.Q712*	Nonsense	15/28	-	1
12-432782-G-C	c.2134C>G	p.Q712E	Missense	15/28	-	1
12-432784-A-G	c.2132T>C	p.M711T	Missense	15/28	-	1
12-432785-T-C	c.2131A>G	p.M711V	Missense	15/28	-	1
12-432786-G-A	c.2130C>T	p.P710=	Synonymous	15/28	-	3
12-432788-G-A	c.2128C>T	p.P710S	Missense	15/28	-	1
12-432791-A-G	c.2125T>C	p.C709R	Missense	15/28	-	1
12-432794-G-A	c.2122C>T	p.P708S	Missense	15/28	-	1
12-432795-G-T	c.2121C>A	p.C707*	Nonsense	15/28	-	1
12-432805-G-C	c.2111C>G	p.T704S	Missense	15/28	-	1
12-432806-T-C	c.2110A>G	p.T704A	Missense	15/28	-	1
12-432808-G-A	c.2108C>T	p.P703L	Missense	15/28	-	1
12-432814-T-C	c.2102A>G	p.Y701C	Missense	15/28	-	1
12-432817-A-G	c.2099T>C	p.L700P	Missense	15/28	-	1
12-432818-G-A	c.2098C>T	p.L700F	Missense	15/28	-	2
12-432827-G-A	c.2089C>T	p.L697F	Missense	15/28	-	1
12-432829-C-T	c.2087G>A	p.R696Q	Missense	15/28	-	3
12-432830-G-A	c.2086C>T	p.R696W	Missense	15/28	-	5
12-432838-T-C	c.2078A>G	p.N693S	Missense	15/28	-	1
12-432843-G-A	c.2073C>T	p.S691=	Synonymous	15/28	-	1
12-432843-G-C	c.2073C>G	p.S691=	Synonymous	15/28	-	1
12-432843-G-T	c.2073C>A	p.S691=	Synonymous	15/28	-	1
12-432844-G-C	c.2072C>G	p.S691C	Missense	15/28	-	1
12-432845-A-G	c.2071T>C	p.S691P	Missense	15/28	-	1
12-432852-G-A	c.2064C>T	p.L688=	Synonymous	15/28	-	1
12-432852-G-C	c.2064C>G	p.L688=	Synonymous	15/28	-	2
12-432852-G-T	c.2064C>A	p.L688=	Synonymous	15/28	-	1
12-432854-G-A	c.2062C>T	p.L688F	Missense	15/28	-	1
12-432856-G-A	c.2060C>T	p.A687V	Missense	15/28	-	1
12-432857-C-T	c.2059G>A	p.A687T	Missense	15/28	-	4
12-432867-A-G	c.2049T>C	p.C683=	Synonymous	15/28	-	2
12-432869-A-G	c.2047T>C	p.C683R	Missense	15/28	-	1
12-432871-G-A	c.2045C>T	p.T682I	Missense	15/28	-	1
12-432872-T-C	c.2044A>G	p.T682A	Missense	15/28	-	2
12-432873-G-A	c.2043C>T	p.T681=	Synonymous	15/28	-	1
12-432874-G-A	c.2042C>T	p.T681I	Missense	15/28	-	1
12-432880-C-A	c.2036G>T	p.C679F	Missense	15/28	-	1
12-432880-C-G	c.2036G>C	p.C679S	Missense	15/28	-	1
12-432881-A-T	c.2035T>A	p.C679S	Missense	15/28	-	1
12-432882-T-C	c.2034A>G	p.A678=	Synonymous	15/28	-	1
12-432883-G-A	c.2033C>T	p.A678V	Missense	15/28	-	1
12-432884-C-T	c.2032G>A	p.A678T	Missense	15/28	-	1
12-432886-G-A	c.2030C>T	p.S677L	Missense	15/28	-	2
12-432886-G-C	c.2030C>G	p.S677*	Nonsense	15/28	-	3
12-432892-T-C	c.2024A>G	p.Q675R	Missense	15/28	-	1
12-432894-C-T	c.2022G>A	p.R674=	Synonymous	15/28	-	1
12-432895-C-A	c.2021G>T	p.R674L	Missense	15/28	-	1
12-432895-C-T	c.2021G>A	p.R674Q	Missense	15/28	-	2
12-432896-G-A	c.2020C>T	p.R674W	Missense	15/28	-	4
12-432899-C-T	c.2017G>A	p.E673K	Missense	15/28	-	1
12-432907-G-A	c.2009C>T	p.P670L	Missense	15/28	-	1
12-432911-C-T	c.2005G>A	p.V669I	Missense	15/28	-	4
12-432914-G-A	c.2002C>T	p.L668F	Missense	15/28	-	1
12-432916-T-C	c.2000A>G	p.E667G	Missense	15/28	-	1
12-432917-C-G	c.1999G>C	p.E667Q	Missense	15/28	-	2
12-432924-T-G	c.1992A>C	p.E664D	Missense	15/28	-	2
12-432925-T-A	c.1991A>T	p.E664V	Missense	15/28	-	1
12-432925-TC-AT	c.1990_1991delinsAT	p.E664I	Missense	15/28	-	1
12-432929-C-G	c.1987G>C	p.E663Q	Missense	15/28	-	1
12-432929-C-T	c.1987G>A	p.E663K	Missense	15/28	-	1
12-432922-ACTT-A	c.1991_1993del	p.E664del	InFrameDeletion	15/28	-	2
12-432933-T-A	c.1983A>T	p.S661=	Synonymous	15/28	-	1
12-432933-T-C	c.1983A>G	p.S661=	Synonymous	15/28	-	1
12-432933-T-G	c.1983A>C	p.S661=	Synonymous	15/28	-	1
12-432936-C-A	c.1980G>T	p.M660I	Missense	15/28	-	1
12-432936-C-G	c.1980G>C	p.M660I	Missense	15/28	-	1
12-432936-C-T	c.1980G>A	p.M660I	Missense	15/28	-	1
12-432938-T-A	c.1978A>T	p.M660L	Missense	15/28	-	1
12-432941-G-C	c.1975C>G	p.L659V	Missense	15/28	-	2
12-432944-C-A	c.1972G>T	p.V658F	Missense	15/28	-	2
12-432944-C-T	c.1972G>A	p.V658I	Missense	15/28	-	2
12-432946-C-T	c.1970G>A	p.G657D	Missense	15/28	-	1
12-433151-A-G	c.1969-204T>C	-	IntronicSNV	-	14/27	1
12-434755-C-G	c.1969-1808G>C	-	IntronicSNV	-	14/27	1
12-434755-C-T	c.1969-1808G>A	-	IntronicSNV	-	14/27	1
12-436454-G-T	c.1968+1547C>A	-	IntronicSNV	-	14/27	1
12-437976-T-C	c.1968+25A>G	-	IntronicSNV	-	14/27	1
12-438001-C-G	c.1968G>C	p.M656I	Missense	14/28	-	1
12-438003-T-C	c.1966A>G	p.M656V	Missense	14/28	-	1
12-438005-T-A	c.1964A>T	p.Q655L	Missense	14/28	-	1
12-438005-T-C	c.1964A>G	p.Q655R	Missense	14/28	-	1
12-438006-G-C	c.1963C>G	p.Q655E	Missense	14/28	-	3
12-438006-TG-T	c.1963del	p.Q655Rfs*5	Frameshift	14/28	-	1
12-438009-C-A	c.1960G>T	p.V654L	Missense	14/28	-	1
12-438009-C-T	c.1960G>A	p.V654I	Missense	14/28	-	1
12-438011-A-G	c.1958T>C	p.V653A	Missense	14/28	-	1
12-438012-C-T	c.1957G>A	p.V653I	Missense	14/28	-	1
12-438014-G-A	c.1955C>T	p.S652F	Missense	14/28	-	1
12-438014-G-T	c.1955C>A	p.S652Y	Missense	14/28	-	1
12-438016-C-T	c.1953G>A	p.E651=	Synonymous	14/28	-	1
12-438020-C-T	c.1949G>A	p.R650K	Missense	14/28	-	2
12-438026-C-G	c.1943G>C	p.R648P	Missense	14/28	-	1
12-438026-C-T	c.1943G>A	p.R648Q	Missense	14/28	-	6
12-438025-T-A	c.1944A>T	p.R648=	Synonymous	14/28	-	1
12-438025-T-C	c.1944A>G	p.R648=	Synonymous	14/28	-	1
12-438025-T-G	c.1944A>C	p.R648=	Synonymous	14/28	-	1
12-438027-G-T	c.1942C>A	p.R648=	Synonymous	14/28	-	1
12-438032-T-C	c.1937A>G	p.E646G	Missense	14/28	-	1
12-438033-C-T	c.1936G>A	p.E646K	Missense	14/28	-	1
12-438042-T-A	c.1927A>T	p.T643S	Missense	14/28	-	1
12-438044-A-G	c.1925T>C	p.M642T	Missense	14/28	-	1
12-438045-T-C	c.1924A>G	p.M642V	Missense	14/28	-	1
12-438048-G-A	c.1921C>T	p.L641F	Missense	14/28	-	1
12-438048-G-C	c.1921C>G	p.L641V	Missense	14/28	-	1
12-438052-C-A	c.1917G>T	p.L639F	Missense	14/28	-	1
12-438055-T-A	c.1914A>T	p.E638D	Missense	14/28	-	1
12-438055-T-G	c.1914A>C	p.E638D	Missense	14/28	-	1
12-438057-C-A	c.1912G>T	p.E638*	Nonsense	14/28	-	2
12-438057-C-T	c.1912G>A	p.E638K	Missense	14/28	-	1
12-438059-T-C	c.1910A>G	p.K637R	Missense	14/28	-	1
12-438060-T-G	c.1909A>C	p.K637Q	Missense	14/28	-	1
12-438061-G-C	c.1908C>G	p.C636W	Missense	14/28	-	1
12-438063-A-G	c.1906T>C	p.C636R	Missense	14/28	-	4
12-438067-C-T	c.1902G>A	p.M634I	Missense	14/28	-	4
12-438068-A-G	c.1901T>C	p.M634T	Missense	14/28	-	1
12-438069-T-C	c.1900A>G	p.M634V	Missense	14/28	-	1
12-438072-C-T	c.1897G>A	p.A633T	Missense	14/28	-	7
12-438075-C-A	c.1894G>T	p.A632S	Missense	14/28	-	1
12-438080-C-A	c.1889G>T	p.G630V	Missense	14/28	-	2
12-438080-C-T	c.1889G>A	p.G630E	Missense	14/28	-	1
12-438084-C-A	c.1885G>T	p.V629L	Missense	14/28	-	1
12-438084-C-T	c.1885G>A	p.V629M	Missense	14/28	-	2
12-438086-T-A	c.1883A>T	p.D628V	Missense	14/28	-	3
12-438086-T-C	c.1883A>G	p.D628G	Missense	14/28	-	1
12-438092-C-G	c.1877G>C	p.C626S	Missense	14/28	-	1
12-438093-A-T	c.1876T>A	p.C626S	Missense	14/28	-	1
12-438095-T-A	c.1874A>T	p.E625V	Missense	14/28	-	1
12-438097-T-A	c.1872A>T	p.P624=	Synonymous	14/28	-	1
12-438097-T-C	c.1872A>G	p.P624=	Synonymous	14/28	-	1
12-438097-T-G	c.1872A>C	p.P624=	Synonymous	14/28	-	1
12-438098-G-A	c.1871C>T	p.P624L	Missense	14/28	-	7
12-438101-T-A	c.1868A>T	p.D623V	Missense	14/28	-	1
12-438102-C-A	c.1867G>T	p.D623Y	Missense	14/28	-	2
12-438105-C-T	c.1864G>A	p.A622T	Missense	14/28	-	1
12-438106-T-A	c.1863A>T	p.A621=	Synonymous	14/28	-	1
12-438106-T-C	c.1863A>G	p.A621=	Synonymous	14/28	-	1
12-438106-T-G	c.1863A>C	p.A621=	Synonymous	14/28	-	1
12-438107-G-A	c.1862C>T	p.A621V	Missense	14/28	-	1
12-438108-C-T	c.1861G>A	p.A621T	Missense	14/28	-	1
12-438112-C-G	c.1857G>C	p.K619N	Missense	14/28	-	1
12-438118-A-C	c.1851T>G	p.I617M	Missense	14/28	-	1
12-438120-T-C	c.1849A>G	p.I617V	Missense	14/28	-	1
12-438123-G-C	c.1846C>G	p.L616V	Missense	14/28	-	1
12-438124-T-A	c.1845A>T	p.E615D	Missense	14/28	-	1
12-438124-T-C	c.1845A>G	p.E615=	Synonymous	14/28	-	1
12-438124-T-G	c.1845A>C	p.E615D	Missense	14/28	-	1
12-438126-C-T	c.1843G>A	p.E615K	Missense	14/28	-	1
12-438127-C-A	c.1842G>T	p.E614D	Missense	14/28	-	1
12-438127-C-G	c.1842G>C	p.E614D	Missense	14/28	-	1
12-438129-C-T	c.1840G>A	p.E614K	Missense	14/28	-	1
12-438133-TG-AT	c.1835_1836delinsAT	p.S612Y	Missense	14/28	-	1
12-438134-G-A	c.1835C>T	p.S612L	Missense	14/28	-	6
12-438149-C-T	c.1820G>A	p.R607H	Missense	14/28	-	2
12-438150-G-A	c.1819C>T	p.R607C	Missense	14/28	-	1
12-438151-CCT-ACA	c.1816_1818delinsTGT	p.R606C	Missense	14/28	-	1
12-438152-CT-TG	c.1816_1817delinsCA	p.R606Q	Missense	14/28	-	2
12-438158-C-T	c.1811G>A	p.R604H	Missense	14/28	-	1
12-438159-G-A	c.1810C>T	p.R604C	Missense	14/28	-	9
12-438160-TC-AT	c.1808_1809delinsAT	p.R603H	Missense	14/28	-	1
12-438161-C-T	c.1808G>A	p.R603Q	Missense	14/28	-	4
12-438163-G-C	c.1806C>G	p.Y602*	Nonsense	14/28	-	1
12-438163-G-T	c.1806C>A	p.Y602*	Nonsense	14/28	-	1
12-438167-T-A	c.1802A>T	p.H601L	Missense	14/28	-	1
12-438168-G-T	c.1801C>A	p.H601N	Missense	14/28	-	1
12-438171-T-G	c.1798A>C	p.N600H	Missense	14/28	-	1
12-438173-A-C	c.1796T>G	p.V599G	Missense	14/28	-	1
12-438178-T-A	c.1791A>T	p.Q597H	Missense	14/28	-	1
12-438178-T-C	c.1791A>G	p.Q597=	Synonymous	14/28	-	1
12-438179-T-G	c.1790A>C	p.Q597P	Missense	14/28	-	1
12-438181-AC-TT	c.1787_1788delinsAA	p.R596Q	Missense	14/28	-	1
12-438182-C-T	c.1787G>A	p.R596H	Missense	14/28	-	4
12-438183-G-A	c.1786C>T	p.R596C	Missense	14/28	-	3
12-438185-C-G	c.1784G>C	p.G595A	Missense	14/28	-	1
12-438189-T-C	c.1780A>G	p.I594V	Missense	14/28	-	1
12-438190-G-A	c.1779C>T	p.P593=	Synonymous	14/28	-	1
12-438190-G-C	c.1779C>G	p.P593=	Synonymous	14/28	-	1
12-438190-G-T	c.1779C>A	p.P593=	Synonymous	14/28	-	1
12-438191-G-A	c.1778C>T	p.P593L	Missense	14/28	-	3
12-440990-C-G	c.1768G>C	p.D590H	Missense	13/28	-	1
12-440997-A-G	c.1761T>C	p.C587=	Synonymous	13/28	-	2
12-441002-A-G	c.1756T>C	p.F586L	Missense	13/28	-	2
12-441003-G-A	c.1755C>T	p.N585=	Synonymous	13/28	-	1
12-441011-C-A	c.1747G>T	p.A583S	Missense	13/28	-	1
12-441015-A-C	c.1743T>G	p.A581=	Synonymous	13/28	-	2
12-441015-A-G	c.1743T>C	p.A581=	Synonymous	13/28	-	2
12-441015-A-T	c.1743T>A	p.A581=	Synonymous	13/28	-	1
12-441019-A-G	c.1739T>C	p.F580S	Missense	13/28	-	1
12-441029-C-G	c.1729G>C	p.G577R	Missense	13/28	-	1
12-441035-T-A	c.1723A>T	p.N575Y	Missense	13/28	-	1
12-441040-CC-TT	c.1717_1718delinsAA	p.G573K	Missense	13/28	-	1
12-441040-C-G	c.1718G>C	p.G573A	Missense	13/28	-	1
12-441040-C-T	c.1718G>A	p.G573E	Missense	13/28	-	3
12-441043-GA-TC	c.1714_1715inv	p.S572D	Missense	13/28	-	1
12-441043-G-C	c.1715C>G	p.S572C	Missense	13/28	-	1
12-441047-G-T	c.1711C>A	p.H571N	Missense	13/28	-	2
12-441049-T-C	c.1709A>G	p.Y570C	Missense	13/28	-	1
12-441050-A-G	c.1708T>C	p.Y570H	Missense	13/28	-	2
12-441052-G-A	c.1706C>T	p.A569V	Missense	13/28	-	1
12-441053-C-T	c.1705G>A	p.A569T	Missense	13/28	-	1
12-441054-A-C	c.1704T>G	p.R568=	Synonymous	13/28	-	1
12-441054-A-G	c.1704T>C	p.R568=	Synonymous	13/28	-	1
12-441054-A-T	c.1704T>A	p.R568=	Synonymous	13/28	-	1
12-441055-C-G	c.1703G>C	p.R568P	Missense	13/28	-	1
12-441055-C-T	c.1703G>A	p.R568H	Missense	13/28	-	6
12-441056-G-A	c.1702C>T	p.R568C	Missense	13/28	-	1
12-441058-G-A	c.1700C>T	p.P567L	Missense	13/28	-	3
12-441060-A-C	c.1698T>G	p.F566L	Missense	13/28	-	1
12-441060-A-T	c.1698T>A	p.F566L	Missense	13/28	-	1
12-441062-A-G	c.1696T>C	p.F566L	Missense	13/28	-	1
12-441062-A-T	c.1696T>A	p.F566I	Missense	13/28	-	4
12-441068-C-T	c.1690G>A	p.V564M	Missense	13/28	-	1
12-441071-C-A	c.1687G>T	p.V563F	Missense	13/28	-	1
12-441071-C-T	c.1687G>A	p.V563I	Missense	13/28	-	1
12-441074-A-T	c.1684T>A	p.F562I	Missense	13/28	-	1
12-441082-G-A	c.1676C>T	p.A559V	Missense	13/28	-	1
12-441089-G-T	c.1669C>A	p.Q557K	Missense	13/28	-	1
12-441093-G-A	c.1665C>T	p.T555=	Synonymous	13/28	-	1
12-441093-G-C	c.1665C>G	p.T555=	Synonymous	13/28	-	1
12-441093-G-T	c.1665C>A	p.T555=	Synonymous	13/28	-	1
12-441094-G-A	c.1664C>T	p.T555I	Missense	13/28	-	3
12-441097-C-T	c.1661G>A	p.R554K	Missense	13/28	-	2
12-441098-T-C	c.1660A>G	p.R554G	Missense	13/28	-	1
12-441099-G-C	c.1659C>G	p.Y553*	Nonsense	13/28	-	1
12-441099-G-T	c.1659C>A	p.Y553*	Nonsense	13/28	-	2
12-441100-T-C	c.1658A>G	p.Y553C	Missense	13/28	-	4
12-441104-C-A	c.1654G>T	p.V552L	Missense	13/28	-	1
12-442354-T-C	c.1653+299A>G	-	IntronicSNV	-	12/27	2
12-442545-G-A	c.1653+108C>T	-	IntronicSNV	-	12/27	2
12-442579-T-A	c.1653+74A>T	-	IntronicSNV	-	12/27	1
12-442581-T-A	c.1653+72A>T	-	IntronicSNV	-	12/27	1
12-442584-CA-C	c.1653+68del	-	IntronicDeletion	-	12/27	1
12-442594-G-A	c.1653+59C>T	-	IntronicSNV	-	12/27	1
12-442608-C-T	c.1653+45G>A	-	IntronicSNV	-	12/27	1
12-442613-CAAACAAACAAACAACTGAAGGAA-C	c.1653+18_1653+40del	-	IntronicDeletion	-	12/27	1
12-442620-C-A	c.1653+33G>T	-	IntronicSNV	-	12/27	4
12-442620-C-T	c.1653+33G>A	-	IntronicSNV	-	12/27	7
12-442624-C-A	c.1653+29G>T	-	IntronicSNV	-	12/27	1
12-442628-T-A	c.1653+25A>T	-	IntronicSNV	-	12/27	1
12-442633-G-A	c.1653+20C>T	-	IntronicSNV	-	12/27	1
12-442653-A-G	c.1653T>C	p.P551=	Synonymous	12/28	-	1
12-442654-G-C	c.1652C>G	p.P551R	Missense	12/28	-	1
12-442656-C-A	c.1650G>T	p.V550=	Synonymous	12/28	-	1
12-442656-C-T	c.1650G>A	p.V550=	Synonymous	12/28	-	1
12-442660-C-G	c.1646G>C	p.G549A	Missense	12/28	-	1
12-442661-C-A	c.1645G>T	p.G549C	Missense	12/28	-	1
12-442661-C-T	c.1645G>A	p.G549S	Missense	12/28	-	1
12-442663-T-C	c.1643A>G	p.H548R	Missense	12/28	-	1
12-442669-A-G	c.1637T>C	p.M546T	Missense	12/28	-	1
12-442670-T-C	c.1636A>G	p.M546V	Missense	12/28	-	5
12-442676-C-A	c.1630G>T	p.V544L	Missense	12/28	-	1
12-442676-C-T	c.1630G>A	p.V544M	Missense	12/28	-	1
12-442678-T-C	c.1628A>G	p.N543S	Missense	12/28	-	2
12-442681-G-C	c.1625C>G	p.P542R	Missense	12/28	-	1
12-442683-G-A	c.1623C>T	p.N541=	Synonymous	12/28	-	1
12-442686-C-A	c.1620G>T	p.M540I	Missense	12/28	-	1
12-442687-A-G	c.1619T>C	p.M540T	Missense	12/28	-	1
12-442691-T-C	c.1615A>G	p.I539V	Missense	12/28	-	2
12-442697-C-T	c.1609G>A	p.V537I	Missense	12/28	-	5
12-442700-A-C	c.1606T>G	p.L536V	Missense	12/28	-	1
12-442701-C-A	c.1605G>T	p.Q535H	Missense	12/28	-	1
12-442701-C-G	c.1605G>C	p.Q535H	Missense	12/28	-	2
12-442702-T-A	c.1604A>T	p.Q535L	Missense	12/28	-	2
12-442703-G-A	c.1603C>T	p.Q535*	Nonsense	12/28	-	2
12-442707-C-A	c.1599G>T	p.L533=	Synonymous	12/28	-	1
12-442707-C-G	c.1599G>C	p.L533=	Synonymous	12/28	-	1
12-442707-C-T	c.1599G>A	p.L533=	Synonymous	12/28	-	1
12-442709-G-A	c.1597C>T	p.L533=	Synonymous	12/28	-	1
12-442712-G-A	c.1594C>T	p.L532F	Missense	12/28	-	1
12-442712-G-T	c.1594C>A	p.L532I	Missense	12/28	-	1
12-442716-A-G	c.1590T>C	p.P530=	Synonymous	12/28	-	1
12-442721-G-T	c.1585C>A	p.Q529K	Missense	12/28	-	1
12-442722-G-A	c.1584C>T	p.S528=	Synonymous	12/28	-	1
12-442722-G-C	c.1584C>G	p.S528=	Synonymous	12/28	-	1
12-442722-G-T	c.1584C>A	p.S528=	Synonymous	12/28	-	1
12-442723-G-C	c.1583C>G	p.S528C	Missense	12/28	-	2
12-442727-C-A	c.1579G>T	p.E527*	Nonsense	12/28	-	1
12-442728-A-G	c.1578T>C	p.F526=	Synonymous	12/28	-	2
12-442736-C-T	c.1570G>A	p.E524K	Missense	12/28	-	7
12-442738-G-C	c.1568C>G	p.P523R	Missense	12/28	-	1
12-442739-G-A	c.1567C>T	p.P523S	Missense	12/28	-	1
12-442740-G-A	c.1566C>T	p.A522=	Synonymous	12/28	-	1
12-442740-G-C	c.1566C>G	p.A522=	Synonymous	12/28	-	1
12-442740-G-T	c.1566C>A	p.A522=	Synonymous	12/28	-	1
12-442741-G-A	c.1565C>T	p.A522V	Missense	12/28	-	1
12-442741-G-T	c.1565C>A	p.A522D	Missense	12/28	-	1
12-442742-C-T	c.1564G>A	p.A522T	Missense	12/28	-	1
12-442746-C-G	c.1560G>C	p.E520D	Missense	12/28	-	1
12-442746-C-T	c.1560G>A	p.E520=	Synonymous	12/28	-	1
12-442747-T-A	c.1559A>T	p.E520V	Missense	12/28	-	1
12-442748-C-T	c.1558G>A	p.E520K	Missense	12/28	-	1
12-442750-C-G	c.1556G>C	p.R519T	Missense	12/28	-	1
12-442750-C-T	c.1556G>A	p.R519K	Missense	12/28	-	2
12-442750-CT-TG	c.1555_1556delinsCA	p.R519Q	Missense	12/28	-	1
12-442752-C-A	c.1554G>T	p.M518I	Missense	12/28	-	1
12-442752-C-G	c.1554G>C	p.M518I	Missense	12/28	-	1
12-442752-C-T	c.1554G>A	p.M518I	Missense	12/28	-	1
12-442757-C-T	c.1549G>A	p.V517M	Missense	12/28	-	1
12-442758-C-A	c.1548G>T	p.E516D	Missense	12/28	-	3
12-442758-C-G	c.1548G>C	p.E516D	Missense	12/28	-	2
12-442760-C-A	c.1546G>T	p.E516*	Nonsense	12/28	-	1
12-442760-C-T	c.1546G>A	p.E516K	Missense	12/28	-	3
12-442769-G-A	c.1537C>T	p.Q513*	Nonsense	12/28	-	1
12-442772-C-T	c.1534G>A	p.E512K	Missense	12/28	-	1
12-442774-G-A	c.1532C>T	p.A511V	Missense	12/28	-	2
12-442778-C-A	c.1528G>T	p.A510S	Missense	12/28	-	5
12-442779-A-C	c.1527T>G	p.H509Q	Missense	12/28	-	1
12-442780-T-C	c.1526A>G	p.H509R	Missense	12/28	-	2
12-442781-G-A	c.1525C>T	p.H509Y	Missense	12/28	-	1
12-442784-A-C	c.1522T>G	p.S508A	Missense	12/28	-	1
12-442787-G-T	c.1519C>A	p.P507T	Missense	12/28	-	1
12-442790-C-T	c.1516G>A	p.V506M	Missense	12/28	-	1
12-442792-C-T	c.1514G>A	p.G505D	Missense	12/28	-	1
12-442801-G-A	c.1505C>T	p.T502I	Missense	12/28	-	1
12-442803-C-A	c.1503G>T	p.K501N	Missense	12/28	-	1
12-442806-T-A	c.1500A>T	p.P500=	Synonymous	12/28	-	1
12-442807-G-A	c.1499C>T	p.P500L	Missense	12/28	-	1
12-442811-C-T	c.1495G>A	p.E499K	Missense	12/28	-	1
12-442815-C-A	c.1491G>T	p.W497C	Missense	12/28	-	1
12-442815-C-G	c.1491G>C	p.W497C	Missense	12/28	-	1
12-442810-TC-T	c.1495del	-	Frameshift	-	11/27	1
12-443395-G-T	c.1490+12C>A	-	IntronicSNV	-	11/27	1
12-443401-A-G	c.1490+6T>C	-	IntronicSNV	-	11/27	1
12-443402-C-T	c.1490+5G>A	-	IntronicSNV	-	11/27	1
12-443407-C-A	c.1490G>T	p.W497L	Missense	11/28	-	1
12-443409-G-C	c.1488C>G	p.H496Q	Missense	11/28	-	1
12-443409-G-T	c.1488C>A	p.H496Q	Missense	11/28	-	1
12-443413-A-G	c.1484T>C	p.L495S	Missense	11/28	-	1
12-443416-T-C	c.1481A>G	p.Y494C	Missense	11/28	-	1
12-443419-T-C	c.1478A>G	p.N493S	Missense	11/28	-	1
12-443421-G-C	c.1476C>G	p.I492M	Missense	11/28	-	3
12-443422-A-C	c.1475T>G	p.I492S	Missense	11/28	-	2
12-443422-A-G	c.1475T>C	p.I492T	Missense	11/28	-	1
12-443423-T-C	c.1474A>G	p.I492V	Missense	11/28	-	1
12-443423-T-G	c.1474A>C	p.I492L	Missense	11/28	-	1
12-443425-GA-CC	c.1471_1472delinsGG	p.S491G	Missense	11/28	-	1
12-443441-C-T	c.1456G>A	p.D486N	Missense	11/28	-	2
12-443444-C-G	c.1453G>C	p.E485Q	Missense	11/28	-	1
12-443446-A-G	c.1451T>C	p.I484T	Missense	11/28	-	1
12-443449-TG-CC	c.1447_1448delinsGG	p.H483G	Missense	11/28	-	1
12-443449-TG-GC	c.1447_1448delinsGC	p.H483A	Missense	11/28	-	11
12-443456-A-G	c.1441T>C	p.C481R	Missense	11/28	-	2
12-443457-A-G	c.1440T>C	p.F480=	Synonymous	11/28	-	1
12-443457-A-C	c.1440T>G	p.F480L	Missense	11/28	-	2
12-443457-A-T	c.1440T>A	p.F480L	Missense	11/28	-	2
12-443459-A-C	c.1438T>G	p.F480V	Missense	11/28	-	1
12-443459-A-G	c.1438T>C	p.F480L	Missense	11/28	-	2
12-443455-CA-C	c.1441del	p.C481Afs*37	Frameshift	11/28	-	1
12-443455-C-CA	c.1441dup	p.C481Lfs*5	Frameshift	11/28	-	1
12-443461-G-C	c.1436C>G	p.S479C	Missense	11/28	-	1
12-443462-A-C	c.1435T>G	p.S479A	Missense	11/28	-	1
12-443466-G-C	c.1431C>G	p.F477L	Missense	11/28	-	1
12-443468-A-C	c.1429T>G	p.F477V	Missense	11/28	-	1
12-443472-C-T	c.1425G>A	p.M475I	Missense	11/28	-	1
12-443474-T-C	c.1423A>G	p.M475V	Missense	11/28	-	1
12-443475-T-C	c.1422A>G	p.G474=	Synonymous	11/28	-	1
12-443482-T-C	c.1415A>G	p.Y472C	Missense	11/28	-	1
12-443484-G-A	c.1413C>T	p.L471=	Synonymous	11/28	-	1
12-443491-G-A	c.1406C>T	p.P469L	Missense	11/28	-	3
12-443491-G-T	c.1406C>A	p.P469Q	Missense	11/28	-	2
12-443492-G-A	c.1405C>T	p.P469S	Missense	11/28	-	1
12-443495-C-T	c.1402G>A	p.V468M	Missense	11/28	-	2
12-443497-T-C	c.1400A>G	p.K467R	Missense	11/28	-	1
12-443497-T-G	c.1400A>C	p.K467T	Missense	11/28	-	1
12-443501-T-C	c.1396A>G	p.M466V	Missense	11/28	-	3
12-443502-A-C	c.1395T>G	p.G465=	Synonymous	11/28	-	1
12-443502-A-G	c.1395T>C	p.G465=	Synonymous	11/28	-	1
12-443502-A-T	c.1395T>A	p.G465=	Synonymous	11/28	-	1
12-443503-C-T	c.1394G>A	p.G465D	Missense	11/28	-	1
12-443504-C-T	c.1393G>A	p.G465S	Missense	11/28	-	1
12-443506-G-A	c.1391C>T	p.S464F	Missense	11/28	-	1
12-443507-AGAT-A	c.1387_1389del	p.I463del	InFrameDeletion	11/28	-	1
12-443510-T-G	c.1387A>C	p.I463L	Missense	11/28	-	1
12-443513-C-T	c.1384G>A	p.D462N	Missense	11/28	-	1
12-443514-CAC-GAT	c.1381_1383delinsATC	p.V461I	Missense	11/28	-	1
12-443516-C-T	c.1381G>A	p.V461M	Missense	11/28	-	1
12-443517-A-C	c.1380T>G	p.N460K	Missense	11/28	-	2
12-443519-T-A	c.1378A>T	p.N460Y	Missense	11/28	-	1
12-443521-A-G	c.1376T>C	p.I459T	Missense	11/28	-	1
12-443522-T-C	c.1375A>G	p.I459V	Missense	11/28	-	1
12-443531-G-T	c.1366C>A	p.L456I	Missense	11/28	-	2
12-443534-C-A	c.1363G>T	p.V455F	Missense	11/28	-	2
12-443535-A-C	c.1362T>G	p.S454=	Synonymous	11/28	-	1
12-443535-A-G	c.1362T>C	p.S454=	Synonymous	11/28	-	1
12-443535-A-T	c.1362T>A	p.S454=	Synonymous	11/28	-	1
12-443536-G-C	c.1361C>G	p.S454C	Missense	11/28	-	1
12-443537-A-G	c.1360T>C	p.S454P	Missense	11/28	-	1
12-443540-G-A	c.1357C>T	p.Q453*	Nonsense	11/28	-	1
12-443542-T-C	c.1355A>G	p.E452G	Missense	11/28	-	2
12-443543-C-T	c.1354G>A	p.E452K	Missense	11/28	-	2
12-443549-ACAGGCATGTT-A	c.1339_1348del	p.N447Sfs*17	Frameshift	11/28	-	1
12-443551-G-A	c.1346C>T	p.P449L	Missense	11/28	-	2
12-443551-G-T	c.1346C>A	p.P449H	Missense	11/28	-	1
12-443552-G-A	c.1345C>T	p.P449S	Missense	11/28	-	1
12-443552-G-T	c.1345C>A	p.P449T	Missense	11/28	-	1
12-443553-C-A	c.1344G>T	p.M448I	Missense	11/28	-	1
12-443553-C-T	c.1344G>A	p.M448I	Missense	11/28	-	1
12-443555-T-C	c.1342A>G	p.M448V	Missense	11/28	-	1
12-443556-G-T	c.1341C>A	p.N447K	Missense	11/28	-	1
12-443557-T-C	c.1340A>G	p.N447S	Missense	11/28	-	1
12-443558-T-C	c.1339A>G	p.N447D	Missense	11/28	-	1
12-443558-T-G	c.1339A>C	p.N447H	Missense	11/28	-	1
12-443558-T-TA	c.1338dup	p.N447*	Nonsense	11/28	-	2
12-443560-T-A	c.1337A>T	p.N446I	Missense	11/28	-	1
12-443562-C-A	c.1335G>T	p.L445F	Missense	11/28	-	1
12-443562-C-G	c.1335G>C	p.L445F	Missense	11/28	-	1
12-443562-C-T	c.1335G>A	p.L445=	Synonymous	11/28	-	2
12-443567-T-G	c.1330A>C	p.N444H	Missense	11/28	-	1
12-443573-C-A	c.1324G>T	p.G442C	Missense	11/28	-	1
12-443575-G-A	c.1322C>T	p.S441F	Missense	11/28	-	2
12-443579-G-A	c.1318C>T	p.L440F	Missense	11/28	-	2
12-443582-C-A	c.1315G>T	p.A439S	Missense	11/28	-	1
12-443586-T-A	c.1311A>T	p.E437D	Missense	11/28	-	2
12-443586-T-G	c.1311A>C	p.E437D	Missense	11/28	-	1
12-443588-C-T	c.1309G>A	p.E437K	Missense	11/28	-	1
12-443795-T-C	c.1309-207A>G	-	IntronicSNV	-	10/27	1
12-451831-T-G	c.1308+7956A>C	-	IntronicSNV	-	10/27	1
12-454681-G-A	c.1308+5106C>T	-	IntronicSNV	-	10/27	1
12-458496-C-CT	c.1308+1290dup	-	IntronicInsertion	-	10/27	1
12-459593-CAA-C	c.1308+192_1308+193del	-	IntronicDeletion	-	10/27	1
12-459593-CA-C	c.1308+193del	-	IntronicDeletion	-	10/27	1
12-459613-AG-A	c.1308+174del	-	IntronicDeletion	-	10/27	1
12-459688-C-T	c.1308+99G>A	-	IntronicSNV	-	10/27	1
12-459717-C-G	c.1308+70G>C	-	IntronicSNV	-	10/27	1
12-459727-G-A	c.1308+60C>T	-	IntronicSNV	-	10/27	2
12-459787-C-A	c.1308G>T	p.E436D	Missense	10/28	-	1
12-459789-C-A	c.1306G>T	p.E436*	Nonsense	10/28	-	1
12-459791-T-A	c.1304A>T	p.E435V	Missense	10/28	-	1
12-459792-C-G	c.1303G>C	p.E435Q	Missense	10/28	-	2
12-459792-C-T	c.1303G>A	p.E435K	Missense	10/28	-	2
12-459795-C-G	c.1300G>C	p.E434Q	Missense	10/28	-	1
12-459797-G-A	c.1298C>T	p.P433L	Missense	10/28	-	2
12-459798-G-A	c.1297C>T	p.P433S	Missense	10/28	-	2
12-459801-G-A	c.1294C>T	p.L432=	Synonymous	10/28	-	1
12-459801-G-C	c.1294C>G	p.L432V	Missense	10/28	-	2
12-459801-G-T	c.1294C>A	p.L432M	Missense	10/28	-	1
12-459806-T-A	c.1289A>T	p.K430M	Missense	10/28	-	1
12-459807-T-C	c.1288A>G	p.K430E	Missense	10/28	-	1
12-459809-C-T	c.1286G>A	p.R429K	Missense	10/28	-	1
12-459812-C-T	c.1283G>A	p.R428Q	Missense	10/28	-	1
12-459813-G-A	c.1282C>T	p.R428W	Missense	10/28	-	6
12-459816-C-G	c.1279G>C	p.G427R	Missense	10/28	-	1
12-459816-C-T	c.1279G>A	p.G427R	Missense	10/28	-	1
12-459824-A-C	c.1271T>G	p.V424G	Missense	10/28	-	1
12-459826-C-A	c.1269G>T	p.P423=	Synonymous	10/28	-	1
12-459826-C-G	c.1269G>C	p.P423=	Synonymous	10/28	-	1
12-459826-C-T	c.1269G>A	p.P423=	Synonymous	10/28	-	1
12-459827-G-A	c.1268C>T	p.P423L	Missense	10/28	-	6
12-459827-G-T	c.1268C>A	p.P423Q	Missense	10/28	-	2
12-459828-G-A	c.1267C>T	p.P423S	Missense	10/28	-	3
12-459828-G-T	c.1267C>A	p.P423T	Missense	10/28	-	1
12-459836-CT-AA	c.1258_1259delinsTT	p.S420F	Missense	10/28	-	1
12-459839-C-A	c.1256G>T	p.G419V	Missense	10/28	-	1
12-459840-C-A	c.1255G>T	p.G419*	Nonsense	10/28	-	1
12-459840-C-G	c.1255G>C	p.G419R	Missense	10/28	-	1
12-459840-C-T	c.1255G>A	p.G419R	Missense	10/28	-	1
12-459842-A-C	c.1253T>G	p.F418C	Missense	10/28	-	1
12-459843-A-G	c.1252T>C	p.F418L	Missense	10/28	-	1
12-459844-G-C	c.1251C>G	p.D417E	Missense	10/28	-	1
12-459844-G-T	c.1251C>A	p.D417E	Missense	10/28	-	1
12-459845-T-C	c.1250A>G	p.D417G	Missense	10/28	-	1
12-459846-C-A	c.1249G>T	p.D417Y	Missense	10/28	-	1
12-459846-C-T	c.1249G>A	p.D417N	Missense	10/28	-	1
12-459846-TC-T	c.1249del	p.D417Tfs*8	Frameshift	10/28	-	1
12-459847-T-A	c.1248A>T	p.K416N	Missense	10/28	-	1
12-459847-T-G	c.1248A>C	p.K416N	Missense	10/28	-	1
12-459849-T-C	c.1246A>G	p.K416E	Missense	10/28	-	2
12-459853-G-A	c.1242C>T	p.S414=	Synonymous	10/28	-	3
12-459853-G-C	c.1242C>G	p.S414=	Synonymous	10/28	-	2
12-459853-G-T	c.1242C>A	p.S414=	Synonymous	10/28	-	2
12-459854-G-C	c.1241C>G	p.S414C	Missense	10/28	-	3
12-459858-T-A	c.1237A>T	p.I413F	Missense	10/28	-	1
12-459858-T-C	c.1237A>G	p.I413V	Missense	10/28	-	2
12-459859-A-G	c.1236T>C	p.D412=	Synonymous	10/28	-	1
12-459863-G-A	c.1232C>T	p.A411V	Missense	10/28	-	2
12-459869-T-C	c.1226A>G	p.Y409C	Missense	10/28	-	1
12-459872-T-C	c.1223A>G	p.E408G	Missense	10/28	-	1
12-459873-C-G	c.1222G>C	p.E408Q	Missense	10/28	-	1
12-459873-C-T	c.1222G>A	p.E408K	Missense	10/28	-	1
12-459875-A-G	c.1220T>C	p.V407A	Missense	10/28	-	1
12-459892-A-G	c.1203T>C	p.I401=	Synonymous	10/28	-	1
12-459892-A-T	c.1203T>A	p.I401=	Synonymous	10/28	-	1
12-459894-T-C	c.1201A>G	p.I401V	Missense	10/28	-	1
12-459895-G-A	c.1200C>T	p.S400=	Synonymous	10/28	-	1
12-459895-G-T	c.1200C>A	p.S400R	Missense	10/28	-	1
12-459896-C-A	c.1199G>T	p.S400I	Missense	10/28	-	1
12-459903-C-T	c.1192G>A	p.V398I	Missense	10/28	-	1
12-459907-CCG-ACA	c.1186_1188delinsTGT	p.R396C	Missense	10/28	-	1
12-459908-C-T	c.1187G>A	p.R396Q	Missense	10/28	-	4
12-459909-G-A	c.1186C>T	p.R396W	Missense	10/28	-	1
12-459909-G-C	c.1186C>G	p.R396G	Missense	10/28	-	1
12-459918-C-T	c.1177G>A	p.E393K	Missense	10/28	-	1
12-459919-C-A	c.1176G>T	p.K392N	Missense	10/28	-	1
12-459925-TA-GT	c.1169_1170delinsAC	p.V390D	Missense	10/28	-	1
12-459928-T-A	c.1167A>T	p.L389=	Synonymous	10/28	-	1
12-459928-T-C	c.1167A>G	p.L389=	Synonymous	10/28	-	1
12-459928-T-G	c.1167A>C	p.L389=	Synonymous	10/28	-	1
12-459930-G-A	c.1165C>T	p.L389=	Synonymous	10/28	-	1
12-459930-G-T	c.1165C>A	p.L389I	Missense	10/28	-	1
12-459931-T-A	c.1164A>T	p.E388D	Missense	10/28	-	1
12-459933-C-A	c.1162G>T	p.E388*	Nonsense	10/28	-	1
12-459933-C-T	c.1162G>A	p.E388K	Missense	10/28	-	1
12-459935-G-T	c.1160C>A	p.T387K	Missense	10/28	-	1
12-459938-G-T	c.1157C>A	p.P386H	Missense	10/28	-	1
12-459939-G-C	c.1156C>G	p.P386A	Missense	10/28	-	1
12-459939-G-T	c.1156C>A	p.P386T	Missense	10/28	-	1
12-460226-C-T	c.1150-281G>A	-	IntronicSNV	-	9/27	1
12-460786-CT-C	c.1149+584del	-	IntronicDeletion	-	9/27	1
12-461269-CAA-C	c.1149+100_1149+101del	-	IntronicDeletion	-	9/27	2
12-461297-G-A	c.1149+74C>T	-	IntronicSNV	-	9/27	1
12-461373-G-A	c.1147C>T	p.H383Y	Missense	9/28	-	1
12-461374-G-A	c.1146C>T	p.V382=	Synonymous	9/28	-	1
12-461374-G-C	c.1146C>G	p.V382=	Synonymous	9/28	-	2
12-461374-G-T	c.1146C>A	p.V382=	Synonymous	9/28	-	1
12-461375-A-C	c.1145T>G	p.V382G	Missense	9/28	-	1
12-461376-C-A	c.1144G>T	p.V382F	Missense	9/28	-	1
12-461376-C-T	c.1144G>A	p.V382I	Missense	9/28	-	1
12-461379-G-A	c.1141C>T	p.P381S	Missense	9/28	-	1
12-461380-C-A	c.1140G>T	p.M380I	Missense	9/28	-	1
12-461382-T-A	c.1138A>T	p.M380L	Missense	9/28	-	2
12-461382-T-G	c.1138A>C	p.M380L	Missense	9/28	-	1
12-461383-A-C	c.1137T>G	p.N379K	Missense	9/28	-	2
12-461383-A-T	c.1137T>A	p.N379K	Missense	9/28	-	2
12-461384-T-C	c.1136A>G	p.N379S	Missense	9/28	-	6
12-461385-T-A	c.1135A>T	p.N379Y	Missense	9/28	-	1
12-461387-A-G	c.1133T>C	p.F378S	Missense	9/28	-	1
12-461392-A-T	c.1128T>A	p.D376E	Missense	9/28	-	1
12-461393-T-C	c.1127A>G	p.D376G	Missense	9/28	-	2
12-461394-C-A	c.1126G>T	p.D376Y	Missense	9/28	-	1
12-461394-C-G	c.1126G>C	p.D376H	Missense	9/28	-	3
12-461396-G-C	c.1124C>G	p.S375C	Missense	9/28	-	1
12-461399-T-C	c.1121A>G	p.K374R	Missense	9/28	-	3
12-461400-T-A	c.1120A>T	p.K374*	Nonsense	9/28	-	1
12-461405-T-A	c.1115A>T	p.N372I	Missense	9/28	-	1
12-461407-A-C	c.1113T>G	p.D371E	Missense	9/28	-	1
12-461407-TA-T	c.1113del	p.D371Efs*19	Frameshift	9/28	-	1
12-461409-C-A	c.1111G>T	p.D371Y	Missense	9/28	-	2
12-461410-T-A	c.1110A>T	p.A370=	Synonymous	9/28	-	1
12-461410-T-C	c.1110A>G	p.A370=	Synonymous	9/28	-	1
12-461410-T-G	c.1110A>C	p.A370=	Synonymous	9/28	-	1
12-461411-G-A	c.1109C>T	p.A370V	Missense	9/28	-	1
12-461412-C-T	c.1108G>A	p.A370T	Missense	9/28	-	1
12-461416-C-A	c.1104G>T	p.E368D	Missense	9/28	-	1
12-461416-C-G	c.1104G>C	p.E368D	Missense	9/28	-	1
12-461418-C-T	c.1102G>A	p.E368K	Missense	9/28	-	2
12-461420-C-T	c.1100G>A	p.G367E	Missense	9/28	-	1
12-461422-A-G	c.1098T>C	p.F366=	Synonymous	9/28	-	1
12-461424-A-G	c.1096T>C	p.F366L	Missense	9/28	-	1
12-461426-C-G	c.1094G>C	p.S365T	Missense	9/28	-	1
12-461430-G-T	c.1090C>A	p.Q364K	Missense	9/28	-	2
12-461436-T-A	c.1084A>T	p.T362S	Missense	9/28	-	1
12-461439-A-G	c.1081T>C	p.Y361H	Missense	9/28	-	1
12-461442-C-A	c.1078G>T	p.E360*	Nonsense	9/28	-	1
12-461442-C-G	c.1078G>C	p.E360Q	Missense	9/28	-	2
12-461442-C-T	c.1078G>A	p.E360K	Missense	9/28	-	1
12-461444-C-A	c.1076G>T	p.R359L	Missense	9/28	-	3
12-461444-C-T	c.1076G>A	p.R359Q	Missense	9/28	-	2
12-461445-G-A	c.1075C>T	p.R359*	Nonsense	9/28	-	2
12-461445-G-C	c.1075C>G	p.R359G	Missense	9/28	-	1
12-461448-C-T	c.1072G>A	p.V358I	Missense	9/28	-	1
12-461451-C-T	c.1069G>A	p.A357T	Missense	9/28	-	1
12-461457-C-G	c.1063G>C	p.E355Q	Missense	9/28	-	1
12-461459-A-T	c.1061T>A	p.F354Y	Missense	9/28	-	1
12-461468-G-A	c.1052C>T	p.A351V	Missense	9/28	-	1
12-461468-G-T	c.1052C>A	p.A351D	Missense	9/28	-	1
12-461469-C-T	c.1051G>A	p.A351T	Missense	9/28	-	5
12-461472-C-T	c.1048G>A	p.E350K	Missense	9/28	-	1
12-461474-C-G	c.1046G>C	p.R349P	Missense	9/28	-	1
12-461474-C-T	c.1046G>A	p.R349Q	Missense	9/28	-	2
12-461475-G-A	c.1045C>T	p.R349*	Nonsense	9/28	-	2
12-461475-G-C	c.1045C>G	p.R349G	Missense	9/28	-	1
12-461478-G-A	c.1042C>T	p.P348S	Missense	9/28	-	1
12-461478-G-T	c.1042C>A	p.P348T	Missense	9/28	-	1
12-461482-GCT-CCA	c.1036_1038delinsTGG	p.S346W	Missense	9/28	-	1
12-461483-C-T	c.1037G>A	p.S346N	Missense	9/28	-	1
12-461483-CT-AA	c.1036_1037delinsTT	p.S346F	Missense	9/28	-	1
12-461487-A-C	c.1033T>G	p.C345G	Missense	9/28	-	2
12-461490-C-G	c.1030G>C	p.E344Q	Missense	9/28	-	1
12-461598-C-A	c.1030-108G>T	-	IntronicSNV	-	8/27	5
12-461637-C-G	c.1030-147G>C	-	IntronicSNV	-	8/27	3
12-461637-C-T	c.1030-147G>A	-	IntronicSNV	-	8/27	3
12-463086-C-CA	c.1029+155dup	-	IntronicInsertion	-	8/27	1
12-463127-T-A	c.1029+115A>T	-	IntronicSNV	-	8/27	1
12-463130-T-A	c.1029+112A>T	-	IntronicSNV	-	8/27	1
12-463134-G-A	c.1029+108C>T	-	IntronicSNV	-	8/27	1
12-463178-T-C	c.1029+64A>G	-	IntronicSNV	-	8/27	1
12-463195-AT-A	c.1029+46del	-	IntronicDeletion	-	8/27	1
12-463244-C-T	c.1027G>A	p.E343K	Missense	8/28	-	5
12-463245-G-A	c.1026C>T	p.A342=	Synonymous	8/28	-	1
12-463245-G-C	c.1026C>G	p.A342=	Synonymous	8/28	-	1
12-463245-G-T	c.1026C>A	p.A342=	Synonymous	8/28	-	1
12-463246-G-A	c.1025C>T	p.A342V	Missense	8/28	-	1
12-463247-C-T	c.1024G>A	p.A342T	Missense	8/28	-	4
12-463248-G-A	c.1023C>T	p.V341=	Synonymous	8/28	-	1
12-463248-G-C	c.1023C>G	p.V341=	Synonymous	8/28	-	4
12-463250-C-G	c.1021G>C	p.V341L	Missense	8/28	-	1
12-463258-G-A	c.1013C>T	p.P338L	Missense	8/28	-	1
12-463258-G-C	c.1013C>G	p.P338R	Missense	8/28	-	1
12-463258-GG-AA	c.1012_1013delinsTT	p.P338F	Missense	8/28	-	1
12-463258-G-T	c.1013C>A	p.P338H	Missense	8/28	-	1
12-463261-C-T	c.1010G>A	p.C337Y	Missense	8/28	-	1
12-463262-A-T	c.1009T>A	p.C337S	Missense	8/28	-	1
12-463264-C-T	c.1007G>A	p.R336K	Missense	8/28	-	2
12-463267-CA-GC	c.1003_1004delinsGC	p.W335A	Missense	8/28	-	2
12-463273-C-A	c.998G>T	p.G333V	Missense	8/28	-	1
12-463276-T-C	c.995A>G	p.K332R	Missense	8/28	-	1
12-463278-G-A	c.993C>T	p.P331=	Synonymous	8/28	-	1
12-463279-G-T	c.992C>A	p.P331H	Missense	8/28	-	3
12-463281-CAC-GAT	c.988_990delinsATC	p.V330I	Missense	8/28	-	1
12-463283-C-T	c.988G>A	p.V330M	Missense	8/28	-	3
12-463285-T-C	c.986A>G	p.D329G	Missense	8/28	-	1
12-463285-T-G	c.986A>C	p.D329A	Missense	8/28	-	1
12-463286-C-G	c.985G>C	p.D329H	Missense	8/28	-	1
12-463287-A-G	c.984T>C	p.P328=	Synonymous	8/28	-	1
12-463288-G-A	c.983C>T	p.P328L	Missense	8/28	-	5
12-463288-G-C	c.983C>G	p.P328R	Missense	8/28	-	1
12-463289-G-A	c.982C>T	p.P328S	Missense	8/28	-	3
12-463294-G-A	c.977C>T	p.P326L	Missense	8/28	-	3
12-463297-G-A	c.974C>T	p.P325L	Missense	8/28	-	5
12-463298-G-A	c.973C>T	p.P325S	Missense	8/28	-	5
12-463300-A-C	c.971T>G	p.I324S	Missense	8/28	-	1
12-463301-T-C	c.970A>G	p.I324V	Missense	8/28	-	1
12-463301-T-G	c.970A>C	p.I324L	Missense	8/28	-	2
12-463305-A-T	c.966T>A	p.C322*	Nonsense	8/28	-	1
12-463306-C-T	c.965G>A	p.C322Y	Missense	8/28	-	1
12-463311-T-A	c.960A>T	p.T320=	Synonymous	8/28	-	1
12-463311-T-C	c.960A>G	p.T320=	Synonymous	8/28	-	1
12-463311-T-G	c.960A>C	p.T320=	Synonymous	8/28	-	1
12-463316-G-C	c.955C>G	p.H319D	Missense	8/28	-	3
12-463317-A-G	c.954T>C	p.Y318=	Synonymous	8/28	-	1
12-463317-A-T	c.954T>A	p.Y318*	Nonsense	8/28	-	1
12-463318-T-C	c.953A>G	p.Y318C	Missense	8/28	-	2
12-463325-C-A	c.946G>T	p.D316Y	Missense	8/28	-	3
12-463327-T-G	c.944A>C	p.D315A	Missense	8/28	-	1
12-463336-T-A	c.935A>T	p.D312V	Missense	8/28	-	2
12-463336-T-C	c.935A>G	p.D312G	Missense	8/28	-	2
12-463336-T-G	c.935A>C	p.D312A	Missense	8/28	-	2
12-463337-C-T	c.934G>A	p.D312N	Missense	8/28	-	1
12-463340-A-G	c.931T>C	p.C311R	Missense	8/28	-	1
12-463343-A-C	c.928T>G	p.L310V	Missense	8/28	-	1
12-463346-G-A	c.925C>T	p.L309F	Missense	8/28	-	1
12-463347-C-G	c.924G>C	p.L308F	Missense	8/28	-	1
12-463347-C-T	c.924G>A	p.L308=	Synonymous	8/28	-	2
12-463349-A-G	c.922T>C	p.L308=	Synonymous	8/28	-	1
12-463351-T-C	c.920A>G	p.K307R	Missense	8/28	-	1
12-463351-T-G	c.920A>C	p.K307T	Missense	8/28	-	1
12-463358-C-T	c.913G>A	p.E305K	Missense	8/28	-	4
12-463359-A-G	c.912T>C	p.N304=	Synonymous	8/28	-	1
12-463361-T-C	c.910A>G	p.N304D	Missense	8/28	-	1
12-463361-T-G	c.910A>C	p.N304H	Missense	8/28	-	1
12-463369-C-A	c.902G>T	p.R301L	Missense	8/28	-	1
12-463369-CG-TT	c.901_902delinsAA	p.R301K	Missense	8/28	-	1
12-463369-C-T	c.902G>A	p.R301Q	Missense	8/28	-	1
12-463370-G-A	c.901C>T	p.R301W	Missense	8/28	-	3
12-463370-G-C	c.901C>G	p.R301G	Missense	8/28	-	1
12-463370-G-T	c.901C>A	p.R301=	Synonymous	8/28	-	1
12-463372-C-G	c.899G>C	p.G300A	Missense	8/28	-	1
12-463372-C-T	c.899G>A	p.G300D	Missense	8/28	-	1
12-463373-C-A	c.898G>T	p.G300C	Missense	8/28	-	3
12-463374-A-G	c.897T>C	p.C299=	Synonymous	8/28	-	1
12-463375-C-A	c.896G>T	p.C299F	Missense	8/28	-	1
12-463376-A-T	c.895T>A	p.C299S	Missense	8/28	-	1
12-463378-A-C	c.893T>G	p.F298C	Missense	8/28	-	1
12-463380-C-A	c.891G>T	p.M297I	Missense	8/28	-	1
12-463380-C-G	c.891G>C	p.M297I	Missense	8/28	-	1
12-463380-C-T	c.891G>A	p.M297I	Missense	8/28	-	2
12-463382-T-C	c.889A>G	p.M297V	Missense	8/28	-	1
12-463384-CA-GT	c.886_887delinsAC	p.C296T	Missense	8/28	-	1
12-463385-A-G	c.886T>C	p.C296R	Missense	8/28	-	1
12-463388-CAT-C	c.881_882del	p.Y294Cfs*11	Frameshift	8/28	-	1
12-463390-T-A	c.881A>T	p.Y294F	Missense	8/28	-	1
12-463390-T-C	c.881A>G	p.Y294C	Missense	8/28	-	1
12-463390-T-G	c.881A>C	p.Y294S	Missense	8/28	-	1
12-463393-A-G	c.878T>C	p.L293P	Missense	8/28	-	1
12-463394-G-A	c.877C>T	p.L293F	Missense	8/28	-	3
12-463394-G-C	c.877C>G	p.L293V	Missense	8/28	-	1
12-463396-T-A	c.875A>T	p.D292V	Missense	8/28	-	1
12-463396-T-C	c.875A>G	p.D292G	Missense	8/28	-	1
12-463396-T-G	c.875A>C	p.D292A	Missense	8/28	-	1
12-463397-C-A	c.874G>T	p.D292Y	Missense	8/28	-	1
12-463397-C-T	c.874G>A	p.D292N	Missense	8/28	-	2
12-463398-AAC-CTT	c.871_873delinsAAG	p.V291K	Missense	8/28	-	1
12-463400-C-A	c.871G>T	p.V291F	Missense	8/28	-	1
12-463421-G-A	c.871-21C>T	-	IntronicSNV	-	7/27	1
12-463421-G-T	c.871-21C>A	-	IntronicSNV	-	7/27	1
12-464123-A-G	c.870+201T>C	-	IntronicSNV	-	7/27	1
12-464254-T-A	c.870+70A>T	-	IntronicSNV	-	7/27	4
12-464254-T-C	c.870+70A>G	-	IntronicSNV	-	7/27	7
12-464324-A-C	c.870T>G	p.F290L	Missense	7/28	-	2
12-464325-A-G	c.869T>C	p.F290S	Missense	7/28	-	1
12-464325-A-T	c.869T>A	p.F290Y	Missense	7/28	-	2
12-464324-A-T	c.870T>A	p.F290L	Missense	7/28	-	1
12-464326-A-G	c.868T>C	p.F290L	Missense	7/28	-	1
12-464328-T-A	c.866A>T	p.N289I	Missense	7/28	-	1
12-464331-A-G	c.863T>C	p.V288A	Missense	7/28	-	1
12-464332-C-A	c.862G>T	p.V288F	Missense	7/28	-	1
12-464332-C-G	c.862G>C	p.V288L	Missense	7/28	-	1
12-464334-G-A	c.860C>T	p.S287F	Missense	7/28	-	3
12-464334-GA-CC	c.859_860delinsGG	p.S287G	Missense	7/28	-	1
12-464334-G-C	c.860C>G	p.S287C	Missense	7/28	-	1
12-464335-A-C	c.859T>G	p.S287A	Missense	7/28	-	1
12-464336-G-A	c.858C>T	p.L286=	Synonymous	7/28	-	1
12-464336-G-C	c.858C>G	p.L286=	Synonymous	7/28	-	1
12-464336-G-T	c.858C>A	p.L286=	Synonymous	7/28	-	1
12-464338-G-A	c.856C>T	p.L286F	Missense	7/28	-	1
12-464339-A-C	c.855T>G	p.T285=	Synonymous	7/28	-	1
12-464339-A-G	c.855T>C	p.T285=	Synonymous	7/28	-	1
12-464339-A-T	c.855T>A	p.T285=	Synonymous	7/28	-	1
12-464341-T-C	c.853A>G	p.T285A	Missense	7/28	-	2
12-464341-T-G	c.853A>C	p.T285P	Missense	7/28	-	1
12-464343-C-A	c.851G>T	p.G284V	Missense	7/28	-	1
12-464343-C-T	c.851G>A	p.G284D	Missense	7/28	-	3
12-464344-C-G	c.850G>C	p.G284R	Missense	7/28	-	1
12-464346-T-A	c.848A>T	p.K283I	Missense	7/28	-	1
12-464346-T-C	c.848A>G	p.K283R	Missense	7/28	-	1
12-464346-T-G	c.848A>C	p.K283T	Missense	7/28	-	1
12-464349-C-A	c.845G>T	p.R282L	Missense	7/28	-	3
12-464349-C-T	c.845G>A	p.R282Q	Missense	7/28	-	3
12-464350-G-A	c.844C>T	p.R282W	Missense	7/28	-	3
12-464353-G-A	c.841C>T	p.Q281*	Nonsense	7/28	-	1
12-464355-C-T	c.839G>A	p.R280K	Missense	7/28	-	1
12-464357-C-G	c.837G>C	p.M279I	Missense	7/28	-	1
12-464359-T-A	c.835A>T	p.M279L	Missense	7/28	-	1
12-464359-T-C	c.835A>G	p.M279V	Missense	7/28	-	1
12-464361-T-G	c.833A>C	p.Q278P	Missense	7/28	-	1
12-464362-G-C	c.832C>G	p.Q278E	Missense	7/28	-	2
12-464365-T-C	c.829A>G	p.M277V	Missense	7/28	-	3
12-464366-G-C	c.828C>G	p.N276K	Missense	7/28	-	1
12-464366-G-T	c.828C>A	p.N276K	Missense	7/28	-	1
12-464367-T-G	c.827A>C	p.N276T	Missense	7/28	-	1
12-464374-C-T	c.820G>A	p.A274T	Missense	7/28	-	9
12-464376-T-A	c.818A>T	p.D273V	Missense	7/28	-	1
12-464377-C-G	c.817G>C	p.D273H	Missense	7/28	-	2
12-464379-G-A	c.815C>T	p.S272L	Missense	7/28	-	2
12-464381-CCT-ATG	c.811_813delinsCAT	p.R271H	Missense	7/28	-	1
12-464382-CT-AG	c.811_812inv	p.R271L	Missense	7/28	-	1
12-464382-CT-TA	c.811_812delinsTA	p.R271*	Nonsense	7/28	-	1
12-464383-T-A	c.811A>T	p.R271W	Missense	7/28	-	1
12-464383-T-C	c.811A>G	p.R271G	Missense	7/28	-	1
12-464386-T-C	c.808A>G	p.N270D	Missense	7/28	-	1
12-464388-G-A	c.806C>T	p.T269I	Missense	7/28	-	1
12-464388-G-T	c.806C>A	p.T269N	Missense	7/28	-	5
12-464390-A-C	c.804T>G	p.V268=	Synonymous	7/28	-	1
12-464390-A-G	c.804T>C	p.V268=	Synonymous	7/28	-	1
12-464390-A-T	c.804T>A	p.V268=	Synonymous	7/28	-	1
12-464391-A-G	c.803T>C	p.V268A	Missense	7/28	-	1
12-464392-C-T	c.802G>A	p.V268I	Missense	7/28	-	1
12-464396-TCG-ACA	c.796_798delinsTGT	p.R266C	Missense	7/28	-	1
12-464397-C-A	c.797G>T	p.R266L	Missense	7/28	-	1
12-464397-C-T	c.797G>A	p.R266Q	Missense	7/28	-	5
12-464398-G-A	c.796C>T	p.R266*	Nonsense	7/28	-	2
12-464403-C-T	c.791G>A	p.R264Q	Missense	7/28	-	5
12-464404-G-A	c.790C>T	p.R264*	Nonsense	7/28	-	4
12-464410-C-G	c.784G>C	p.V262L	Missense	7/28	-	1
12-464412-T-A	c.782A>T	p.E261V	Missense	7/28	-	1
12-464415-T-C	c.779A>G	p.D260G	Missense	7/28	-	2
12-464575-G-A	c.779-160C>T	-	IntronicSNV	-	6/27	1
12-465547-T-TA	c.778+50dup	-	IntronicInsertion	-	6/27	1
12-465598-C-A	c.778G>T	p.D260Y	Missense	6/28	-	2
12-465601-C-G	c.775G>C	p.E259Q	Missense	6/28	-	1
12-465602-T-C	c.774A>G	p.K258=	Synonymous	6/28	-	1
12-465604-T-C	c.772A>G	p.K258E	Missense	6/28	-	1
12-465604-T-G	c.772A>C	p.K258Q	Missense	6/28	-	1
12-465606-T-G	c.770A>C	p.D257A	Missense	6/28	-	1
12-465607-C-A	c.769G>T	p.D257Y	Missense	6/28	-	1
12-465607-C-G	c.769G>C	p.D257H	Missense	6/28	-	5
12-465607-C-T	c.769G>A	p.D257N	Missense	6/28	-	3
12-465608-T-A	c.768A>T	p.K256N	Missense	6/28	-	1
12-465610-T-A	c.766A>T	p.K256*	Nonsense	6/28	-	1
12-465615-C-T	c.761G>A	p.G254E	Missense	6/28	-	6
12-465616-C-G	c.760G>C	p.G254R	Missense	6/28	-	1
12-465616-C-T	c.760G>A	p.G254R	Missense	6/28	-	1
12-465618-A-C	c.758T>G	p.M253R	Missense	6/28	-	1
12-465619-T-C	c.757A>G	p.M253V	Missense	6/28	-	1
12-465621-G-A	c.755C>T	p.A252V	Missense	6/28	-	1
12-465622-C-A	c.754G>T	p.A252S	Missense	6/28	-	1
12-465622-C-G	c.754G>C	p.A252P	Missense	6/28	-	1
12-465627-C-T	c.749G>A	p.G250D	Missense	6/28	-	1
12-465628-C-G	c.748G>C	p.G250R	Missense	6/28	-	1
12-465630-ACAACCTTGGG-A	c.736_745del	p.P246Wfs*31	Frameshift	6/28	-	1
12-465632-A-T	c.744T>A	p.V248=	Synonymous	6/28	-	1
12-465633-A-C	c.743T>G	p.V248G	Missense	6/28	-	1
12-465634-C-T	c.742G>A	p.V248I	Missense	6/28	-	2
12-465637-T-C	c.739A>G	p.K247E	Missense	6/28	-	1
12-465640-G-A	c.736C>T	p.P246S	Missense	6/28	-	1
12-465641-C-A	c.735G>T	p.G245=	Synonymous	6/28	-	6
12-465641-C-G	c.735G>C	p.G245=	Synonymous	6/28	-	6
12-465641-C-T	c.735G>A	p.G245=	Synonymous	6/28	-	7
12-465642-C-A	c.734G>T	p.G245V	Missense	6/28	-	1
12-465643-C-T	c.733G>A	p.G245R	Missense	6/28	-	3
12-465649-C-A	c.727G>T	p.G243W	Missense	6/28	-	1
12-465650-A-C	c.726T>G	p.F242L	Missense	6/28	-	2
12-465650-A-T	c.726T>A	p.F242L	Missense	6/28	-	1
12-465652-A-G	c.724T>C	p.F242L	Missense	6/28	-	1
12-465655-T-C	c.721A>G	p.I241V	Missense	6/28	-	1
12-465656-C-A	c.720G>T	p.Q240H	Missense	6/28	-	2
12-465656-C-G	c.720G>C	p.Q240H	Missense	6/28	-	2
12-465656-C-T	c.720G>A	p.Q240=	Synonymous	6/28	-	3
12-465657-T-C	c.719A>G	p.Q240R	Missense	6/28	-	1
12-465663-T-G	c.713A>C	p.K238T	Missense	6/28	-	1
12-465668-C-A	c.708G>T	p.L236=	Synonymous	6/28	-	2
12-465668-C-G	c.708G>C	p.L236=	Synonymous	6/28	-	2
12-465668-C-T	c.708G>A	p.L236=	Synonymous	6/28	-	2
12-465670-G-A	c.706C>T	p.L236=	Synonymous	6/28	-	2
12-465671-T-C	c.705A>G	p.E235=	Synonymous	6/28	-	1
12-465673-C-G	c.703G>C	p.E235Q	Missense	6/28	-	1
12-465673-C-T	c.703G>A	p.E235K	Missense	6/28	-	1
12-465675-G-A	c.701C>T	p.T234M	Missense	6/28	-	3
12-465675-G-T	c.701C>A	p.T234K	Missense	6/28	-	1
12-465676-T-G	c.700A>C	p.T234P	Missense	6/28	-	1
12-465678-T-G	c.698A>C	p.N233T	Missense	6/28	-	1
12-465682-T-C	c.694A>G	p.R232G	Missense	6/28	-	1
12-465684-C-T	c.692G>A	p.S231N	Missense	6/28	-	4
12-465688-C-A	c.688G>T	p.V230L	Missense	6/28	-	4
12-465688-C-G	c.688G>C	p.V230L	Missense	6/28	-	4
12-465690-T-C	c.686A>G	p.D229G	Missense	6/28	-	1
12-465691-C-G	c.685G>C	p.D229H	Missense	6/28	-	1
12-465691-C-T	c.685G>A	p.D229N	Missense	6/28	-	1
12-465696-G-A	c.680C>T	p.S227F	Missense	6/28	-	3
12-465696-G-C	c.680C>G	p.S227C	Missense	6/28	-	1
12-465697-A-T	c.679T>A	p.S227T	Missense	6/28	-	1
12-465700-C-T	c.676G>A	p.E226K	Missense	6/28	-	2
12-465701-T-A	c.675A>T	p.S225=	Synonymous	6/28	-	1
12-465701-T-C	c.675A>G	p.S225=	Synonymous	6/28	-	1
12-465701-T-G	c.675A>C	p.S225=	Synonymous	6/28	-	1
12-465702-G-C	c.674C>G	p.S225*	Nonsense	6/28	-	4
12-465702-G-T	c.674C>A	p.S225*	Nonsense	6/28	-	1
12-465703-A-C	c.673T>G	p.S225A	Missense	6/28	-	1
12-465703-A-T	c.673T>A	p.S225T	Missense	6/28	-	1
12-465771-G-T	c.673-68C>A	-	IntronicSNV	-	5/27	1
12-472043-G-T	c.672+86C>A	-	IntronicSNV	-	5/27	1
12-472062-T-C	c.672+67A>G	-	IntronicSNV	-	5/27	1
12-472097-T-C	c.672+32A>G	-	IntronicSNV	-	5/27	1
12-472129-C-A	c.672G>T	p.Q224H	Missense	5/28	-	1
12-472135-C-T	c.666G>A	p.K222=	Synonymous	5/28	-	1
12-472136-T-A	c.665A>T	p.K222M	Missense	5/28	-	1
12-472139-CA-C	c.662del	p.V221Gfs*10	Frameshift	5/28	-	1
12-472142-C-T	c.659G>A	p.R220H	UnclassifiedSNV	5/28	-	8
12-472143-G-A	c.658C>T	p.R220C	Missense	5/28	-	4
12-472143-G-C	c.658C>G	p.R220G	Missense	5/28	-	1
12-472145-CT-TG	c.655_656delinsCA	p.R219Q	Missense	5/28	-	1
12-472146-T-C	c.655A>G	p.R219G	Missense	5/28	-	1
12-472151-CT-TG	c.649_650delinsCA	p.R217Q	Missense	5/28	-	2
12-472156-C-T	c.645G>A	p.P215=	Synonymous	5/28	-	1
12-472157-G-A	c.644C>T	p.P215L	Missense	5/28	-	3
12-472157-G-C	c.644C>G	p.P215R	Missense	5/28	-	2
12-472157-G-T	c.644C>A	p.P215Q	Missense	5/28	-	1
12-472158-G-T	c.643C>A	p.P215T	Missense	5/28	-	1
12-472164-T-C	c.637A>G	p.I213V	Missense	5/28	-	1
12-472167-T-A	c.634A>T	p.N212Y	Missense	5/28	-	1
12-472168-C-A	c.633G>T	p.M211I	Missense	5/28	-	2
12-472168-C-G	c.633G>C	p.M211I	Missense	5/28	-	2
12-472168-C-T	c.633G>A	p.M211I	Missense	5/28	-	1
12-472170-T-A	c.631A>T	p.M211L	Missense	5/28	-	1
12-472172-C-A	c.629G>T	p.R210M	Missense	5/28	-	1
12-472172-CT-TG	c.628_629delinsCA	p.R210Q	Missense	5/28	-	1
12-472178-C-T	c.623G>A	p.G208D	Missense	5/28	-	3
12-472179-C-T	c.622G>A	p.G208S	Missense	5/28	-	4
12-472180-TG-T	c.620del	p.P207Qfs*5	Frameshift	5/28	-	1
12-472183-C-A	c.618G>T	p.E206D	Missense	5/28	-	1
12-472183-C-G	c.618G>C	p.E206D	Missense	5/28	-	1
12-472184-T-C	c.617A>G	p.E206G	Missense	5/28	-	1
12-472185-C-CA	c.615_616insT	p.E206*	Nonsense	5/28	-	1
12-472185-C-G	c.616G>C	p.E206Q	Missense	5/28	-	1
12-472185-C-T	c.616G>A	p.E206K	Missense	5/28	-	2
12-472187-G-A	c.614C>T	p.P205L	Missense	5/28	-	1
12-472189-G-A	c.612C>T	p.S204=	Synonymous	5/28	-	3
12-472189-G-C	c.612C>G	p.S204=	Synonymous	5/28	-	3
12-472189-G-T	c.612C>A	p.S204=	Synonymous	5/28	-	4
12-472190-G-A	c.611C>T	p.S204F	Missense	5/28	-	2
12-472194-T-A	c.607A>T	p.T203S	Missense	5/28	-	1
12-472197-G-T	c.604C>A	p.Q202K	Missense	5/28	-	1
12-472198-G-A	c.603C>T	p.T201=	Synonymous	5/28	-	1
12-472198-G-C	c.603C>G	p.T201=	Synonymous	5/28	-	1
12-472198-G-T	c.603C>A	p.T201=	Synonymous	5/28	-	1
12-472199-G-C	c.602C>G	p.T201S	Missense	5/28	-	1
12-472199-G-T	c.602C>A	p.T201N	Missense	5/28	-	1
12-472203-C-A	c.598G>T	p.D200Y	Missense	5/28	-	1
12-472203-C-T	c.598G>A	p.D200N	Missense	5/28	-	1
12-472206-T-C	c.595A>G	p.T199A	Missense	5/28	-	1
12-472208-C-G	c.593G>C	p.S198T	Missense	5/28	-	1
12-472210-G-A	c.591C>T	p.L197=	Synonymous	5/28	-	2
12-472210-G-C	c.591C>G	p.L197=	Synonymous	5/28	-	1
12-472210-G-T	c.591C>A	p.L197=	Synonymous	5/28	-	2
12-472211-A-G	c.590T>C	p.L197P	Missense	5/28	-	1
12-472212-G-A	c.589C>T	p.L197F	Missense	5/28	-	4
12-472212-G-C	c.589C>G	p.L197V	Missense	5/28	-	1
12-472215-C-A	c.586G>T	p.V196F	Missense	5/28	-	1
12-472217-T-C	c.584A>G	p.E195G	Missense	5/28	-	1
12-472217-T-G	c.584A>C	p.E195A	Missense	5/28	-	1
12-472218-C-A	c.583G>T	p.E195*	Nonsense	5/28	-	1
12-472218-C-G	c.583G>C	p.E195Q	Missense	5/28	-	1
12-472221-G-A	c.580C>T	p.P194S	Missense	5/28	-	1
12-472221-G-C	c.580C>G	p.P194A	Missense	5/28	-	1
12-472223-T-C	c.578A>G	p.E193G	Missense	5/28	-	1
12-472224-C-T	c.577G>A	p.E193K	Missense	5/28	-	3
12-472226-A-T	c.575T>A	p.V192E	Missense	5/28	-	1
12-472230-T-A	c.571A>T	p.K191*	Nonsense	5/28	-	1
12-472230-T-C	c.571A>G	p.K191E	Missense	5/28	-	1
12-472231-T-A	c.570A>T	p.E190D	Missense	5/28	-	2
12-472231-T-C	c.570A>G	p.E190=	Synonymous	5/28	-	1
12-472231-T-G	c.570A>C	p.E190D	Missense	5/28	-	3
12-472233-C-A	c.568G>T	p.E190*	Nonsense	5/28	-	2
12-472233-C-G	c.568G>C	p.E190Q	Missense	5/28	-	1
12-472233-C-T	c.568G>A	p.E190K	Missense	5/28	-	1
12-472236-T-C	c.565A>G	p.K189E	Missense	5/28	-	1
12-472238-A-G	c.563T>C	p.L188P	Missense	5/28	-	3
12-472239-G-C	c.562C>G	p.L188V	Missense	5/28	-	1
12-472241-T-C	c.560A>G	p.D187G	Missense	5/28	-	1
12-472250-G-A	c.551C>T	p.P184L	Missense	5/28	-	2
12-472250-G-C	c.551C>G	p.P184R	Missense	5/28	-	1
12-472252-C-A	c.549G>T	p.M183I	Missense	5/28	-	1
12-472252-C-G	c.549G>C	p.M183I	Missense	5/28	-	1
12-472252-C-T	c.549G>A	p.M183I	Missense	5/28	-	1
12-472256-T-A	c.545A>T	p.Q182L	Missense	5/28	-	2
12-472256-T-C	c.545A>G	p.Q182R	Missense	5/28	-	1
12-472257-G-A	c.544C>T	p.Q182*	Nonsense	5/28	-	1
12-472258-CAC-GAT	c.541_543delinsATC	p.V181I	Missense	5/28	-	1
12-472260-C-T	c.541G>A	p.V181M	Missense	5/28	-	2
12-472262-C-A	c.539G>T	p.G180V	Missense	5/28	-	1
12-472262-C-T	c.539G>A	p.G180D	Missense	5/28	-	1
12-475099-C-T	c.537+1G>A	-	IntronicSNV	-	4/27	1
12-475100-C-T	c.537G>A	p.M179I	Missense	4/28	-	2
12-475107-C-T	c.530G>A	p.S177N	Missense	4/28	-	1
12-475110-A-C	c.527T>G	p.V176G	Missense	4/28	-	1
12-475111-C-G	c.526G>C	p.V176L	Missense	4/28	-	1
12-475111-C-T	c.526G>A	p.V176M	Missense	4/28	-	1
12-475114-C-A	c.523G>T	p.G175C	Missense	4/28	-	1
12-475114-C-T	c.523G>A	p.G175S	Missense	4/28	-	1
12-475116-G-C	c.521C>G	p.S174C	Missense	4/28	-	1
12-475116-G-T	c.521C>A	p.S174Y	Missense	4/28	-	1
12-475117-A-G	c.520T>C	p.S174P	Missense	4/28	-	1
12-475118-C-T	c.519G>A	p.Q173=	Synonymous	4/28	-	1
12-475120-G-A	c.517C>T	p.Q173*	Nonsense	4/28	-	1
12-475120-G-T	c.517C>A	p.Q173K	Missense	4/28	-	1
12-475128-T-C	c.509A>G	p.E170G	Missense	4/28	-	2
12-475129-C-G	c.508G>C	p.E170Q	Missense	4/28	-	2
12-475134-G-A	c.503C>T	p.P168L	Missense	4/28	-	1
12-475134-G-T	c.503C>A	p.P168Q	Missense	4/28	-	2
12-475135-G-A	c.502C>T	p.P168S	Missense	4/28	-	1
12-475135-G-T	c.502C>A	p.P168T	Missense	4/28	-	1
12-475138-A-C	c.499T>G	p.Y167D	Missense	4/28	-	1
12-475138-A-G	c.499T>C	p.Y167H	Missense	4/28	-	1
12-475139-G-A	c.498C>T	p.L166=	Synonymous	4/28	-	1
12-475139-G-C	c.498C>G	p.L166=	Synonymous	4/28	-	2
12-475139-G-T	c.498C>A	p.L166=	Synonymous	4/28	-	1
12-475140-AG-CT	c.496_497inv	p.L166S	Missense	4/28	-	1
12-475143-A-G	c.494T>C	p.I165T	Missense	4/28	-	1
12-475144-T-C	c.493A>G	p.I165V	Missense	4/28	-	1
12-475146-C-A	c.491G>T	p.R164I	Missense	4/28	-	2
12-475146-C-G	c.491G>C	p.R164T	Missense	4/28	-	4
12-475151-A-C	c.486T>G	p.Y162*	Nonsense	4/28	-	1
12-475152-T-A	c.485A>T	p.Y162F	Missense	4/28	-	1
12-475153-A-G	c.484T>C	p.Y162H	Missense	4/28	-	1
12-475154-A-C	c.483T>G	p.H161Q	Missense	4/28	-	1
12-475156-G-A	c.481C>T	p.H161Y	Missense	4/28	-	1
12-475159-A-C	c.478T>G	p.S160A	Missense	4/28	-	1
12-475159-A-G	c.478T>C	p.S160P	Missense	4/28	-	1
12-475162-T-A	c.475A>T	p.K159*	Nonsense	4/28	-	1
12-475162-T-C	c.475A>G	p.K159E	Missense	4/28	-	1
12-475163-C-A	c.474G>T	p.L158F	Missense	4/28	-	1
12-475164-A-G	c.473T>C	p.L158S	Missense	4/28	-	1
12-475168-G-C	c.469C>G	p.L157V	Missense	4/28	-	2
12-475170-G-A	c.467C>T	p.S156F	Missense	4/28	-	1
12-475170-G-C	c.467C>G	p.S156C	Missense	4/28	-	1
12-475173-C-A	c.464G>T	p.G155V	Missense	4/28	-	1
12-475176-G-C	c.461C>G	p.T154S	Missense	4/28	-	2
12-475178-TCC-GCT	c.457_459delinsAGC	p.G153S	Missense	4/28	-	1
12-475179-C-G	c.458G>C	p.G153A	Missense	4/28	-	1
12-475182-T-C	c.455A>G	p.K152R	Missense	4/28	-	1
12-475182-T-G	c.455A>C	p.K152T	Missense	4/28	-	1
12-475184-TC-GT	c.452_453delinsAC	p.G151D	Missense	4/28	-	1
12-475185-C-T	c.452G>A	p.G151E	Missense	4/28	-	1
12-475186-C-G	c.451G>C	p.G151R	Missense	4/28	-	1
12-475186-C-T	c.451G>A	p.G151R	Missense	4/28	-	1
12-475189-G-A	c.448C>T	p.P150S	Missense	4/28	-	1
12-475192-G-C	c.445C>G	p.L149V	Missense	4/28	-	2
12-475192-G-T	c.445C>A	p.L149M	Missense	4/28	-	1
12-475194-T-C	c.443A>G	p.Y148C	Missense	4/28	-	1
12-475195-A-G	c.442T>C	p.Y148H	Missense	4/28	-	1
12-475196-TCC-CCA	c.439_441delinsTGG	p.G147W	Missense	4/28	-	1
12-475200-AA-GG	c.436_437delinsCC	p.L146P	Missense	4/28	-	1
12-475200-A-C	c.437T>G	p.L146W	Missense	4/28	-	1
12-475201-A-C	c.436T>G	p.L146V	Missense	4/28	-	1
12-475202-G-A	c.435C>T	p.R145=	Synonymous	4/28	-	1
12-475202-GCG-CCA	c.433_435delinsTGG	p.R145W	Missense	4/28	-	1
12-475203-C-T	c.434G>A	p.R145H	Missense	4/28	-	3
12-475204-G-A	c.433C>T	p.R145C	Missense	4/28	-	6
12-475204-G-C	c.433C>G	p.R145G	Missense	4/28	-	1
12-475204-G-T	c.433C>A	p.R145S	Missense	4/28	-	1
12-475205-A-G	c.432T>C	p.S144=	Synonymous	4/28	-	1
12-475206-C-T	c.431G>A	p.S144N	Missense	4/28	-	1
12-475206-CT-AA	c.430_431delinsTT	p.S144F	Missense	4/28	-	1
12-475212-A-G	c.425T>C	p.V142A	Missense	4/28	-	1
12-475218-G-C	c.419C>G	p.S140C	Missense	4/28	-	1
12-475220-C-T	c.417G>A	p.W139*	Nonsense	4/28	-	3
12-475221-C-T	c.416G>A	p.W139*	Nonsense	4/28	-	1
12-475225-T-C	c.412A>G	p.K138E	Missense	4/28	-	1
12-475226-C-A	c.411G>T	p.K137N	Missense	4/28	-	3
12-475226-C-G	c.411G>C	p.K137N	Missense	4/28	-	2
12-475227-T-G	c.410A>C	p.K137T	Missense	4/28	-	1
12-475228-T-C	c.409A>G	p.K137E	Missense	4/28	-	1
12-475231-C-A	c.406G>T	p.E136*	Nonsense	4/28	-	1
12-475235-G-T	c.402C>A	p.T134=	Synonymous	4/28	-	1
12-475236-G-A	c.401C>T	p.T134I	Missense	4/28	-	1
12-475237-T-C	c.400A>G	p.T134A	Missense	4/28	-	1
12-475238-G-A	c.399C>T	p.V133=	Synonymous	4/28	-	1
12-475238-G-C	c.399C>G	p.V133=	Synonymous	4/28	-	1
12-475238-G-T	c.399C>A	p.V133=	Synonymous	4/28	-	1
12-475241-C-A	c.396G>T	p.M132I	Missense	4/28	-	2
12-475241-C-G	c.396G>C	p.M132I	Missense	4/28	-	2
12-475241-C-T	c.396G>A	p.M132I	Missense	4/28	-	6
12-475243-T-C	c.394A>G	p.M132V	Missense	4/28	-	1
12-475246-C-G	c.391G>C	p.E131Q	Missense	4/28	-	2
12-475253-TC-GT	c.383_384delinsAC	p.G128D	Missense	4/28	-	1
12-475254-C-A	c.383G>T	p.G128V	Missense	4/28	-	1
12-475254-C-T	c.383G>A	p.G128E	Missense	4/28	-	2
12-475255-C-A	c.382G>T	p.G128*	Nonsense	4/28	-	1
12-475257-T-C	c.380A>G	p.K127R	Missense	4/28	-	1
12-475257-T-G	c.380A>C	p.K127T	Missense	4/28	-	1
12-475259-GCT-TCA	c.376_378delinsTGA	p.S126*	Nonsense	4/28	-	1
12-475261-T-A	c.376A>T	p.S126C	Missense	4/28	-	1
12-475263-G-A	c.374C>T	p.A125V	Missense	4/28	-	1
12-475263-G-C	c.374C>G	p.A125G	Missense	4/28	-	1
12-475267-C-G	c.370G>C	p.V124L	Missense	4/28	-	1
12-475267-CA-C	c.369del	p.I123Mfs*36	Frameshift	4/28	-	1
12-475269-A-G	c.368T>C	p.I123T	Missense	4/28	-	2
12-475269-A-AT	c.367dup	p.I123Nfs*9	SpliceAcceptorInsertion	-	-	1
12-475579-A-C	c.367-309T>G	-	IntronicSNV	-	3/27	1
12-475579-A-T	c.367-309T>A	-	IntronicSNV	-	3/27	1
12-488341-A-T	c.366+4856T>A	-	IntronicSNV	-	3/27	1
12-488340-TA-T	c.366+4856del	-	IntronicDeletion	-	3/27	1
12-493064-G-A	c.366+133C>T	-	IntronicSNV	-	3/27	1
12-493185-T-A	c.366+12A>T	-	IntronicSNV	-	3/27	1
12-493195-A-G	c.366+2T>C	-	IntronicSNV	-	3/27	1
12-493203-C-G	c.360G>C	p.L120F	Missense	3/28	-	1
12-493204-AA-GG	c.358_359delinsCC	p.L120P	Missense	3/28	-	1
12-493205-A-T	c.358T>A	p.L120M	Missense	3/28	-	1
12-493207-G-C	c.356C>G	p.A119G	Missense	3/28	-	1
12-493208-C-T	c.355G>A	p.A119T	Missense	3/28	-	1
12-493211-A-G	c.352T>C	p.Y118H	Missense	3/28	-	1
12-493213-A-G	c.350T>C	p.L117P	Missense	3/28	-	1
12-493214-G-A	c.349C>T	p.L117=	Synonymous	3/28	-	1
12-493214-G-T	c.349C>A	p.L117M	Missense	3/28	-	12
12-493217-C-A	c.346G>T	p.D116Y	Missense	3/28	-	1
12-493217-C-G	c.346G>C	p.D116H	Missense	3/28	-	1
12-493217-C-T	c.346G>A	p.D116N	Missense	3/28	-	2
12-493220-G-C	c.343C>G	p.L115V	Missense	3/28	-	1
12-493221-G-A	c.342C>T	p.I114=	Synonymous	3/28	-	4
12-493222-GA-G	c.341del	p.I114Tfs*7	Frameshift	3/28	-	1
12-493223-T-A	c.340A>T	p.I114F	Missense	3/28	-	1
12-493223-T-C	c.340A>G	p.I114V	Missense	3/28	-	1
12-493224-T-A	c.339A>T	p.K113N	Missense	3/28	-	1
12-493224-T-G	c.339A>C	p.K113N	Missense	3/28	-	1
12-493225-T-C	c.338A>G	p.K113R	Missense	3/28	-	1
12-493229-T-A	c.334A>T	p.R112*	Nonsense	3/28	-	1
12-493230-C-T	c.333G>A	p.E111=	Synonymous	3/28	-	1
12-493232-C-A	c.331G>T	p.E111*	Nonsense	3/28	-	1
12-493233-TAC-CAT	c.328_330delinsATG	p.V110M	Missense	3/28	-	1
12-493235-C-A	c.328G>T	p.V110L	Missense	3/28	-	1
12-493235-C-T	c.328G>A	p.V110I	Missense	3/28	-	1
12-493237-A-G	c.326T>C	p.V109A	Missense	3/28	-	1
12-493238-C-A	c.325G>T	p.V109L	Missense	3/28	-	1
12-493238-C-T	c.325G>A	p.V109M	Missense	3/28	-	1
12-493240-G-T	c.323C>A	p.P108H	Missense	3/28	-	2
12-493241-G-C	c.322C>G	p.P108A	Missense	3/28	-	2
12-493242-G-A	c.321C>T	p.I107=	Synonymous	3/28	-	1
12-493244-T-A	c.319A>T	p.I107F	Missense	3/28	-	1
12-493247-T-C	c.316A>G	p.K106E	Missense	3/28	-	1
12-493248-C-A	c.315G>T	p.L105=	Synonymous	3/28	-	1
12-493248-C-G	c.315G>C	p.L105=	Synonymous	3/28	-	1
12-493248-C-T	c.315G>A	p.L105=	Synonymous	3/28	-	1
12-493250-G-A	c.313C>T	p.L105=	Synonymous	3/28	-	2
12-493250-G-C	c.313C>G	p.L105V	Missense	3/28	-	5
12-493253-T-C	c.310A>G	p.T104A	Missense	3/28	-	2
12-493255-G-C	c.308C>G	p.S103C	Missense	3/28	-	4
12-493255-G-T	c.308C>A	p.S103Y	Missense	3/28	-	1
12-493257-TCC-ACA	c.304_306delinsTGT	p.G102C	Missense	3/28	-	1
12-493259-C-G	c.304G>C	p.G102R	Missense	3/28	-	1
12-493259-C-T	c.304G>A	p.G102R	Missense	3/28	-	2
12-493262-G-A	c.301C>T	p.Q101*	Nonsense	3/28	-	1
12-493262-GA-G	c.300del	p.Q101Kfs*5	Frameshift	3/28	-	1
12-493266-T-A	c.297A>T	p.E99D	Missense	3/28	-	1
12-493266-T-G	c.297A>C	p.E99D	Missense	3/28	-	1
12-493268-C-G	c.295G>C	p.E99Q	Missense	3/28	-	1
12-493269-C-A	c.294G>T	p.W98C	Missense	3/28	-	2
12-493269-C-G	c.294G>C	p.W98C	Missense	3/28	-	2
12-493275-T-G	c.288A>C	p.K96N	Missense	3/28	-	1
12-493276-T-G	c.287A>C	p.K96T	Missense	3/28	-	1
12-493278-T-A	c.285A>T	p.A95=	Synonymous	3/28	-	2
12-493278-T-C	c.285A>G	p.A95=	Synonymous	3/28	-	2
12-493278-T-G	c.285A>C	p.A95=	Synonymous	3/28	-	2
12-493280-C-A	c.283G>T	p.A95S	Missense	3/28	-	1
12-493280-C-CAGCCTGGCCAACATGG	c.282_283insCCATGTTGGCCAGGCT	p.A95Pfs*42	Frameshift	3/28	-	1
12-493283-G-C	c.280C>G	p.L94V	Missense	3/28	-	2
12-493283-G-T	c.280C>A	p.L94I	Missense	3/28	-	1
12-493287-A-G	c.276T>C	p.D92=	Synonymous	3/28	-	1
12-493289-C-A	c.274G>T	p.D92Y	Missense	3/28	-	1
12-493289-C-T	c.274G>A	p.D92N	Missense	3/28	-	1
12-493290-C-A	c.273G>T	p.L91F	Missense	3/28	-	1
12-493295-A-T	c.268T>A	p.F90I	Missense	3/28	-	1
12-493299-CAA-GAT	c.262_264delinsATC	p.L88I	Missense	3/28	-	1
12-493301-A-G	c.262T>C	p.L88=	Synonymous	3/28	-	1
12-493301-A-T	c.262T>A	p.L88M	Missense	3/28	-	1
12-493303-C-G	c.260G>C	p.R87T	Missense	3/28	-	2
12-493305-C-A	c.258G>T	p.V86=	Synonymous	3/28	-	1
12-493306-A-G	c.257T>C	p.V86A	Missense	3/28	-	1
12-493307-C-T	c.256G>A	p.V86M	Missense	3/28	-	1
12-493309-C-G	c.254G>C	p.R85T	Missense	3/28	-	1
12-493309-CT-TG	c.253_254delinsCA	p.R85Q	Missense	3/28	-	1
12-493312-G-A	c.251C>T	p.T84I	Missense	3/28	-	1
12-493316-T-C	c.247A>G	p.M83V	Missense	3/28	-	1
12-493318-G-A	c.245C>T	p.A82V	Missense	3/28	-	2
12-493318-G-T	c.245C>A	p.A82E	Missense	3/28	-	1
12-493427-T-C	c.244-108A>G	-	IntronicSNV	-	2/27	2
12-493443-A-G	c.244-124T>C	-	IntronicSNV	-	2/27	3
12-493900-C-T	c.244-581G>A	-	IntronicSNV	-	2/27	2
12-495024-G-A	c.243+39C>T	-	IntronicSNV	-	2/27	1
12-495024-G-C	c.243+39C>G	-	IntronicSNV	-	2/27	1
12-495064-T-A	c.242A>T	p.E81V	Missense	2/28	-	1
12-495065-C-A	c.241G>T	p.E81*	Nonsense	2/28	-	1
12-495065-C-T	c.241G>A	p.E81K	Missense	2/28	-	2
12-495067-A-G	c.239T>C	p.L80P	Missense	2/28	-	2
12-495067-A-T	c.239T>A	p.L80H	Missense	2/28	-	1
12-495069-T-A	c.237A>T	p.E79D	Missense	2/28	-	1
12-495069-T-G	c.237A>C	p.E79D	Missense	2/28	-	1
12-495071-C-T	c.235G>A	p.E79K	Missense	2/28	-	2
12-495075-C-T	c.231G>A	p.L77=	Synonymous	2/28	-	1
12-495076-A-C	c.230T>G	p.L77R	Missense	2/28	-	3
12-495078-GC-TT	c.227_228delinsAA	p.R76Q	Missense	2/28	-	1
12-495079-C-G	c.227G>C	p.R76P	Missense	2/28	-	1
12-495079-C-T	c.227G>A	p.R76H	Missense	2/28	-	3
12-495080-G-A	c.226C>T	p.R76C	Missense	2/28	-	2
12-495080-G-C	c.226C>G	p.R76G	Missense	2/28	-	1
12-495081-C-A	c.225G>T	p.Q75H	Missense	2/28	-	1
12-495082-T-C	c.224A>G	p.Q75R	Missense	2/28	-	2
12-495083-G-C	c.223C>G	p.Q75E	Missense	2/28	-	1
12-495084-GAC-CAT	c.220_222delinsATG	p.V74M	Missense	2/28	-	1
12-495084-G-T	c.222C>A	p.V74=	Synonymous	2/28	-	1
12-495087-CT-C	c.219del	p.V74Sfs*4	Frameshift	2/28	-	1
12-495087-T-C	c.219A>G	p.R73=	Synonymous	2/28	-	1
12-495088-C-A	c.218G>T	p.R73I	Missense	2/28	-	2
12-495088-C-T	c.218G>A	p.R73K	Missense	2/28	-	1
12-495089-T-C	c.217A>G	p.R73G	Missense	2/28	-	1
12-495091-G-A	c.215C>T	p.P72L	Missense	2/28	-	1
12-495092-G-A	c.214C>T	p.P72S	Missense	2/28	-	1
12-495094-G-A	c.212C>T	p.T71I	Missense	2/28	-	1
12-495095-T-C	c.211A>G	p.T71A	Missense	2/28	-	1
12-495096-G-C	c.210C>G	p.F70L	Missense	2/28	-	1
12-495096-G-T	c.210C>A	p.F70L	Missense	2/28	-	1
12-495098-A-C	c.208T>G	p.F70V	Missense	2/28	-	1
12-495098-A-G	c.208T>C	p.F70L	Missense	2/28	-	1
12-495098-A-T	c.208T>A	p.F70I	Missense	2/28	-	1
12-495100-C-T	c.206G>A	p.R69H	Missense	2/28	-	3
12-495101-G-A	c.205C>T	p.R69C	Missense	2/28	-	6
12-495107-T-C	c.199A>G	p.S67G	Missense	2/28	-	1
12-495110-T-C	c.196A>G	p.K66E	Missense	2/28	-	3
12-495106-CT-C	c.199del	p.S67Afs*11	Frameshift	2/28	-	1
12-495113-C-A	c.193G>T	p.V65L	Missense	2/28	-	1
12-495116-C-G	c.190G>C	p.E64Q	Missense	2/28	-	3
12-495121-GC-CA	c.184_185delinsTG	p.A62C	Missense	2/28	-	1
12-495121-GC-TA	c.184_185delinsTA	p.A62Y	Missense	2/28	-	1
12-495122-C-T	c.184G>A	p.A62T	Missense	2/28	-	1
12-495125-A-C	c.181T>G	p.F61V	Missense	2/28	-	1
12-495127-G-A	c.179C>T	p.P60L	Missense	2/28	-	1
12-495128-G-A	c.178C>T	p.P60S	Missense	2/28	-	1
12-495128-G-T	c.178C>A	p.P60T	Missense	2/28	-	1
12-495126-TGGA-T	c.177_179del	p.P60del	InFrameDeletion	2/28	-	1
12-495130-G-A	c.176C>T	p.P59L	Missense	2/28	-	1
12-495131-G-A	c.175C>T	p.P59S	Missense	2/28	-	2
12-495133-T-A	c.173A>T	p.Q58L	Missense	2/28	-	2
12-495134-G-A	c.172C>T	p.Q58*	Nonsense	2/28	-	1
12-495134-G-T	c.172C>A	p.Q58K	Missense	2/28	-	1
12-495136-C-A	c.170G>T	p.W57L	Missense	2/28	-	2
12-495136-CA-TC	c.169_170delinsGA	p.W57E	Missense	2/28	-	1
12-495138-G-C	c.168C>G	p.D56E	Missense	2/28	-	3
12-495140-C-A	c.166G>T	p.D56Y	Missense	2/28	-	1
12-495217-G-A	c.166-77C>T	-	IntronicSNV	-	1/27	5
12-495217-G-T	c.166-77C>A	-	IntronicSNV	-	1/27	5
12-496439-A-T	c.166-1299T>A	-	IntronicSNV	-	1/27	6
12-496490-A-G	c.166-1350T>C	-	IntronicSNV	-	1/27	1
12-496506-A-C	c.166-1366T>G	-	IntronicSNV	-	1/27	1
12-496533-C-A	c.166-1393G>T	-	IntronicSNV	-	1/27	3
12-496533-C-T	c.166-1393G>A	-	IntronicSNV	-	1/27	3
12-496695-G-A	c.165+1398C>T	-	IntronicSNV	-	1/27	2
12-497166-G-GA	c.165+926dup	-	IntronicInsertion	-	1/27	2
12-497618-T-C	c.165+475A>G	-	IntronicSNV	-	1/27	1
12-497958-T-G	c.165+135A>C	-	IntronicSNV	-	1/27	1
12-498094-T-C	c.164A>G	p.K55R	Missense	1/28	-	1
12-498095-T-G	c.163A>C	p.K55Q	Missense	1/28	-	1
12-498097-G-C	c.161C>G	p.P54R	Missense	1/28	-	1
12-498100-G-A	c.158C>T	p.P53L	Missense	1/28	-	1
12-498103-CG-TT	c.154_155delinsAA	p.R52K	Missense	1/28	-	2
12-498104-G-A	c.154C>T	p.R52W	Missense	1/28	-	2
12-498109-T-C	c.149A>G	p.K50R	Missense	1/28	-	1
12-498111-G-A	c.147C>T	p.C49=	Synonymous	1/28	-	1
12-498111-GCA-CTC	c.145_147delinsGAG	p.C49E	Missense	1/28	-	1
12-498113-A-G	c.145T>C	p.C49R	Missense	1/28	-	1
12-498114-G-A	c.144C>T	p.I48=	Synonymous	1/28	-	2
12-498114-G-C	c.144C>G	p.I48M	Missense	1/28	-	1
12-498116-T-C	c.142A>G	p.I48V	Missense	1/28	-	1
12-498116-T-G	c.142A>C	p.I48L	Missense	1/28	-	1
12-498118-C-G	c.140G>C	p.G47A	Missense	1/28	-	1
12-498120-G-A	c.138C>T	p.T46=	Synonymous	1/28	-	2
12-498120-G-C	c.138C>G	p.T46=	Synonymous	1/28	-	1
12-498120-G-T	c.138C>A	p.T46=	Synonymous	1/28	-	1
12-498121-G-C	c.137C>G	p.T46S	Missense	1/28	-	1
12-498126-C-G	c.132G>C	p.E44D	Missense	1/28	-	1
12-498127-T-C	c.131A>G	p.E44G	Missense	1/28	-	2
12-498129-CG-GT	c.128_129delinsAC	p.A43D	Missense	1/28	-	1
12-498130-G-A	c.128C>T	p.A43V	Missense	1/28	-	2
12-498130-GC-AT	c.127_128delinsAT	p.A43M	Missense	1/28	-	1
12-498132-C-A	c.126G>T	p.L42F	Missense	1/28	-	2
12-498132-CCAA-C	c.124_126del	p.L42del	InFrameDeletion	1/28	-	1
12-498134-A-C	c.124T>G	p.L42V	Missense	1/28	-	1
12-498134-A-G	c.124T>C	p.L42=	Synonymous	1/28	-	1
12-498136-G-A	c.122C>T	p.P41L	Missense	1/28	-	2
12-498136-G-T	c.122C>A	p.P41H	Missense	1/28	-	1
12-498139-C-T	c.119G>A	p.R40Q	Missense	1/28	-	1
12-498141-G-C	c.117C>G	p.I39M	Missense	1/28	-	3
12-498143-T-A	c.115A>T	p.I39F	Missense	1/28	-	2
12-498143-T-C	c.115A>G	p.I39V	Missense	1/28	-	1
12-498145-C-T	c.113G>A	p.R38H	Missense	1/28	-	1
12-498146-G-A	c.112C>T	p.R38C	Missense	1/28	-	1
12-498148-C-A	c.110G>T	p.G37V	Missense	1/28	-	1
12-498148-C-T	c.110G>A	p.G37D	Missense	1/28	-	1
12-498149-C-A	c.109G>T	p.G37C	Missense	1/28	-	1
12-498150-G-A	c.108C>T	p.I36=	Synonymous	1/28	-	1
12-498150-G-C	c.108C>G	p.I36M	Missense	1/28	-	1
12-498152-T-C	c.106A>G	p.I36V	Missense	1/28	-	1
12-498152-T-G	c.106A>C	p.I36L	Missense	1/28	-	1
12-498155-A-C	c.103T>G	p.F35V	Missense	1/28	-	1
12-498157-C-A	c.101G>T	p.S34I	Missense	1/28	-	2
12-498158-T-C	c.100A>G	p.S34G	Missense	1/28	-	1
12-498158-T-G	c.100A>C	p.S34R	Missense	1/28	-	1
12-498159-G-A	c.99C>T	p.L33=	Synonymous	1/28	-	1
12-498160-A-G	c.98T>C	p.L33P	Missense	1/28	-	1
12-498160-A-T	c.98T>A	p.L33H	Missense	1/28	-	1
12-498161-G-A	c.97C>T	p.L33F	Missense	1/28	-	1
12-498161-G-C	c.97C>G	p.L33V	Missense	1/28	-	1
12-498162-C-A	c.96G>T	p.P32=	Synonymous	1/28	-	1
12-498163-G-A	c.95C>T	p.P32L	Missense	1/28	-	1
12-498163-GG-TA	c.94_95delinsTA	p.P32*	Nonsense	1/28	-	1
12-498162-CG-C	c.95del	p.P32Rfs*34	Frameshift	1/28	-	1
12-498164-G-A	c.94C>T	p.P32S	Missense	1/28	-	1
12-498165-A-G	c.93T>C	p.D31=	Synonymous	1/28	-	1
12-498169-G-A	c.89C>T	p.T30I	Missense	1/28	-	1
12-498169-G-C	c.89C>G	p.T30R	Missense	1/28	-	2
12-498170-T-C	c.88A>G	p.T30A	Missense	1/28	-	7
12-498174-C-A	c.84G>T	p.E28D	Missense	1/28	-	2
12-498174-C-G	c.84G>C	p.E28D	Missense	1/28	-	2
12-498174-C-T	c.84G>A	p.E28=	Synonymous	1/28	-	2
12-498179-C-G	c.79G>C	p.E27Q	Missense	1/28	-	3
12-498179-C-T	c.79G>A	p.E27K	Missense	1/28	-	1
12-498182-A-C	c.76T>G	p.W26G	Missense	1/28	-	1
12-498182-A-G	c.76T>C	p.W26R	Missense	1/28	-	2
12-498182-A-T	c.76T>A	p.W26R	Missense	1/28	-	1
12-498183-A-G	c.75T>C	p.S25=	Synonymous	1/28	-	1
12-498183-A-T	c.75T>A	p.S25R	Missense	1/28	-	1
12-498184-C-G	c.74G>C	p.S25T	Missense	1/28	-	2
12-498187-G-A	c.71C>T	p.P24L	Missense	1/28	-	1
12-498188-G-A	c.70C>T	p.P24S	Missense	1/28	-	2
12-498192-A-C	c.66T>G	p.F22L	Missense	1/28	-	2
12-498192-A-T	c.66T>A	p.F22L	Missense	1/28	-	1
12-498194-A-C	c.64T>G	p.F22V	Missense	1/28	-	2
12-498195-G-A	c.63C>T	p.V21=	Synonymous	1/28	-	1
12-498195-G-C	c.63C>G	p.V21=	Synonymous	1/28	-	1
12-498195-G-T	c.63C>A	p.V21=	Synonymous	1/28	-	1
12-498197-C-A	c.61G>T	p.V21F	Missense	1/28	-	1
12-498198-G-A	c.60C>T	p.P20=	Synonymous	1/28	-	2
12-498199-G-A	c.59C>T	p.P20L	Missense	1/28	-	1
12-498201-G-A	c.57C>T	p.C19=	Synonymous	1/28	-	1
12-498203-A-C	c.55T>G	p.C19G	Missense	1/28	-	1
12-498205-T-G	c.53A>C	p.E18A	Missense	1/28	-	1
12-498206-C-G	c.52G>C	p.E18Q	Missense	1/28	-	2
12-498206-C-T	c.52G>A	p.E18K	Missense	1/28	-	1
12-498207-T-A	c.51A>T	p.P17=	Synonymous	1/28	-	1
12-498207-T-C	c.51A>G	p.P17=	Synonymous	1/28	-	2
12-498207-T-G	c.51A>C	p.P17=	Synonymous	1/28	-	1
12-498209-G-C	c.49C>G	p.P17A	Missense	1/28	-	1
12-498212-G-C	c.46C>G	p.P16A	Missense	1/28	-	2
12-498216-CAC-GAT	c.40_42delinsATC	p.V14I	Missense	1/28	-	1
12-498218-C-T	c.40G>A	p.V14M	Missense	1/28	-	1
12-498219-G-A	c.39C>T	p.F13=	Synonymous	1/28	-	1
12-498222-C-CCCAGCT	c.35_36insAGCTGG	p.E12_F13insAG	InFrameInsertion	1/28	-	1
12-498224-C-T	c.34G>A	p.E12K	Missense	1/28	-	1
12-498225-CGC-ATA	c.31_33delinsTAT	p.A11Y	Missense	1/28	-	1
12-498225-CGC-ATG	c.31_33delinsCAT	p.A11H	Missense	1/28	-	1
12-498225-CGC-GTT	c.31_33delinsAAC	p.A11N	Missense	1/28	-	3
12-498226-G-A	c.32C>T	p.A11V	Missense	1/28	-	1
12-498226-GC-AT	c.31_32delinsAT	p.A11M	Missense	1/28	-	1
12-498226-GC-CT	c.31_32delinsAG	p.A11R	Missense	1/28	-	1
12-498226-G-T	c.32C>A	p.A11E	Missense	1/28	-	3
12-498227-C-G	c.31G>C	p.A11P	Missense	1/28	-	5
12-498228-CGC-ACA	c.28_30delinsTGT	p.A10C	Missense	1/28	-	3
12-498228-CGC-ATA	c.28_30delinsTAT	p.A10Y	Missense	1/28	-	3
12-498229-G-A	c.29C>T	p.A10V	Missense	1/28	-	2
12-498229-G-C	c.29C>G	p.A10G	Missense	1/28	-	3
12-498229-GC-AT	c.28_29delinsAT	p.A10M	Missense	1/28	-	1
12-498229-G-T	c.29C>A	p.A10E	Missense	1/28	-	4
12-498230-C-A	c.28G>T	p.A10S	Missense	1/28	-	2
12-498233-A-G	c.25T>C	p.Y9H	Missense	1/28	-	1
12-498235-C-G	c.23G>C	p.G8A	Missense	1/28	-	2
12-498235-C-T	c.23G>A	p.G8D	Missense	1/28	-	4
12-498237-C-T	c.21G>A	p.G7=	Synonymous	1/28	-	1
12-498234-GC-G	c.23del	p.G8Afs*58	Frameshift	1/28	-	1
12-498234-G-GC	c.23dup	p.Y9Lfs*15	Frameshift	1/28	-	1
12-498240-C-A	c.18G>T	p.P6=	Synonymous	1/28	-	1
12-498240-C-G	c.18G>C	p.P6=	Synonymous	1/28	-	2
12-498240-C-T	c.18G>A	p.P6=	Synonymous	1/28	-	1
12-498241-G-A	c.17C>T	p.P6L	Missense	1/28	-	1
12-498241-G-T	c.17C>A	p.P6Q	Missense	1/28	-	2
12-498242-G-A	c.16C>T	p.P6S	Missense	1/28	-	4
12-498242-G-C	c.16C>G	p.P6A	Missense	1/28	-	1
12-498246-C-A	c.12G>T	p.V4=	Synonymous	1/28	-	2
12-498246-C-G	c.12G>C	p.V4=	Synonymous	1/28	-	2
12-498246-C-T	c.12G>A	p.V4=	Synonymous	1/28	-	2
12-498247-A-C	c.11T>G	p.V4G	Missense	1/28	-	8
12-498248-C-A	c.10G>T	p.V4L	Missense	1/28	-	1
12-498248-C-G	c.10G>C	p.V4L	Missense	1/28	-	1
12-498249-G-A	c.9C>T	p.G3=	Synonymous	1/28	-	1
12-498249-G-C	c.9C>G	p.G3=	Synonymous	1/28	-	2
12-498249-G-T	c.9C>A	p.G3=	Synonymous	1/28	-	1
12-498250-C-T	c.8G>A	p.G3D	Missense	1/28	-	1
12-498251-C-T	c.7G>A	p.G3S	Missense	1/28	-	1
12-498252-C-A	c.6G>T	p.A2=	Synonymous	1/28	-	1
12-498252-C-G	c.6G>C	p.A2=	Synonymous	1/28	-	1
12-498252-C-T	c.6G>A	p.A2=	Synonymous	1/28	-	1
12-498253-G-C	c.5C>G	p.A2G	Missense	1/28	-	1
12-498254-C-A	c.4G>T	p.A2S	Missense	1/28	-	1
12-498254-C-T	c.4G>A	p.A2T	Missense	1/28	-	1
12-498256-A-C	c.2T>G	p.M1?	Missense	1/28	-	1
12-498256-A-T	c.2T>A	p.M1?	Missense	1/28	-	1
12-498257-T-A	c.1A>T	p.M1?	Missense	1/28	-	1
12-498257-T-G	c.1A>C	p.M1?	Missense	1/28	-	1
12-498268-G-A	c.-11C>T	-	5-UTRSNV	1/28	-	2
12-498270-G-A	c.-13C>T	-	5-UTRSNV	1/28	-	1
12-498270-G-C	c.-13C>G	-	5-UTRSNV	1/28	-	1
12-498270-G-T	c.-13C>A	-	5-UTRSNV	1/28	-	1
12-498271-G-A	c.-14C>T	-	5-UTRSNV	1/28	-	1
12-498271-G-C	c.-14C>G	-	5-UTRSNV	1/28	-	1
12-498271-G-T	c.-14C>A	-	5-UTRSNV	1/28	-	1
12-498272-G-A	c.-15C>T	-	5-UTRSNV	1/28	-	2
12-498272-G-C	c.-15C>G	-	5-UTRSNV	1/28	-	2
12-498272-G-T	c.-15C>A	-	5-UTRSNV	1/28	-	2
12-498273-G-A	c.-16C>T	-	5-UTRSNV	1/28	-	1
12-498273-G-C	c.-16C>G	-	5-UTRSNV	1/28	-	1
12-498273-G-T	c.-16C>A	-	5-UTRSNV	1/28	-	1
12-498282-G-GT	c.-26dup	-	5-UTRInsertion	1/28	-	1
12-498289-T-A	c.-32A>T	-	5-UTRSNV	1/28	-	1
12-498289-T-G	c.-32A>C	-	5-UTRSNV	1/28	-	1
12-498302-G-A	c.-45C>T	-	5-UTRSNV	1/28	-	1
12-498302-G-C	c.-45C>G	-	5-UTRSNV	1/28	-	1
12-498425-A-G	c.-168T>C	-	5-UTRSNV	1/28	-	1