TWNK

TWNK twinkle mtDNA helicase

Annotation transcript: NM_021830.5

1343 unique variant annotations were identified in 672 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
10-102747363-G-T	c.-605G>T	-	5-UTRSNV	1/5	-	13
10-102747968-A-G	c.1A>G	p.M1?	Missense	1/5	-	1
10-102747969-T-C	c.2T>C	p.M1?	Missense	1/5	-	1
10-102747972-G-A	c.5G>A	p.W2*	Nonsense	1/5	-	2
10-102747973-G-A	c.6G>A	p.W2*	Nonsense	1/5	-	1
10-102747974-G-A	c.7G>A	p.V3I	Missense	1/5	-	1
10-102747974-G-C	c.7G>C	p.V3L	Missense	1/5	-	1
10-102747974-G-T	c.7G>T	p.V3F	Missense	1/5	-	1
10-102747977-C-T	c.10C>T	p.L4F	Missense	1/5	-	2
10-102747979-C-A	c.12C>A	p.L4=	Synonymous	1/5	-	1
10-102747979-C-G	c.12C>G	p.L4=	Synonymous	1/5	-	1
10-102747979-C-T	c.12C>T	p.L4=	Synonymous	1/5	-	1
10-102747980-C-A	c.13C>A	p.L5I	Missense	1/5	-	1
10-102747982-C-A	c.15C>A	p.L5=	Synonymous	1/5	-	1
10-102747982-C-G	c.15C>G	p.L5=	Synonymous	1/5	-	1
10-102747982-C-T	c.15C>T	p.L5=	Synonymous	1/5	-	2
10-102747983-CGA-TGT	c.16_18delinsTGT	p.R6C	Missense	1/5	-	1
10-102747984-G-A	c.17G>A	p.R6Q	Missense	1/5	-	2
10-102747986-AG-TT	c.19_20delinsTT	p.S7F	Missense	1/5	-	1
10-102747986-A-T	c.19A>T	p.S7C	Missense	1/5	-	1
10-102747987-G-A	c.20G>A	p.S7N	Missense	1/5	-	1
10-102747988-T-C	c.21T>C	p.S7=	Synonymous	1/5	-	1
10-102747992-T-C	c.25T>C	p.Y9H	Missense	1/5	-	1
10-102747993-A-C	c.26A>C	p.Y9S	Missense	1/5	-	1
10-102747995-CC-TA	c.28_29delinsTA	p.P10Y	Missense	1/5	-	1
10-102747995-C-G	c.28C>G	p.P10A	Missense	1/5	-	1
10-102747996-C-A	c.29C>A	p.P10H	Missense	1/5	-	1
10-102747997-C-T	c.30C>T	p.P10=	Synonymous	1/5	-	1
10-102747998-C-A	c.31C>A	p.L11I	Missense	1/5	-	1
10-102747998-C-T	c.31C>T	p.L11F	Missense	1/5	-	1
10-102747999-T-A	c.32T>A	p.L11H	Missense	1/5	-	1
10-102748001-C-A	c.34C>A	p.R12S	Missense	1/5	-	1
10-102748001-CG-GC	c.34_35delinsGC	p.R12A	Missense	1/5	-	1
10-102748001-C-T	c.34C>T	p.R12C	Missense	1/5	-	2
10-102748010-T-A	c.43T>A	p.L15I	Missense	1/5	-	1
10-102748012-A-C	c.45A>C	p.L15F	Missense	1/5	-	3
10-102748012-A-T	c.45A>T	p.L15F	Missense	1/5	-	1
10-102748013-CC-AT	c.46_47delinsAT	p.P16I	Missense	1/5	-	1
10-102748014-C-T	c.47C>T	p.P16L	Missense	1/5	-	4
10-102748017-T-A	c.50T>A	p.L17Q	Missense	1/5	-	1
10-102748017-T-C	c.50T>C	p.L17P	Missense	1/5	-	1
10-102748019-C-T	c.52C>T	p.R18C	Missense	1/5	-	1
10-102748022-G-A	c.55G>A	p.G19R	Missense	1/5	-	1
10-102748022-G-T	c.55G>T	p.G19W	Missense	1/5	-	1
10-102748023-G-A	c.56G>A	p.G19E	Missense	1/5	-	1
10-102748025-G-A	c.58G>A	p.E20K	Missense	1/5	-	1
10-102748025-G-C	c.58G>C	p.E20Q	Missense	1/5	-	1
10-102748026-A-T	c.59A>T	p.E20V	Missense	1/5	-	1
10-102748028-T-C	c.61T>C	p.W21R	Missense	1/5	-	1
10-102748029-G-C	c.62G>C	p.W21S	Missense	1/5	-	1
10-102748032-T-G	c.65T>G	p.M22R	Missense	1/5	-	1
10-102748036-T-A	c.69T>A	p.G23=	Synonymous	1/5	-	1
10-102748036-T-C	c.69T>C	p.G23=	Synonymous	1/5	-	1
10-102748036-T-G	c.69T>G	p.G23=	Synonymous	1/5	-	3
10-102748037-C-G	c.70C>G	p.R24G	Missense	1/5	-	1
10-102748037-CG-AA	c.70_71delinsAA	p.R24K	Missense	1/5	-	1
10-102748037-CG-GC	c.70_71delinsGC	p.R24A	Missense	1/5	-	1
10-102748037-C-T	c.70C>T	p.R24W	Missense	1/5	-	1
10-102748038-G-A	c.71G>A	p.R24Q	Missense	1/5	-	1
10-102748038-G-T	c.71G>T	p.R24L	Missense	1/5	-	1
10-102748040-A-G	c.73A>G	p.R25G	Missense	1/5	-	1
10-102748040-AG-CA	c.73_74delinsCA	p.R25Q	Missense	1/5	-	1
10-102748043-G-A	c.76G>A	p.G26S	Missense	1/5	-	2
10-102748043-G-T	c.76G>T	p.G26C	Missense	1/5	-	1
10-102748044-G-A	c.77G>A	p.G26D	Missense	1/5	-	1
10-102748044-G-C	c.77G>C	p.G26A	Missense	1/5	-	2
10-102748044-G-T	c.77G>T	p.G26V	Missense	1/5	-	1
10-102748045-C-T	c.78C>T	p.G26=	Synonymous	1/5	-	1
10-102748046-C-T	c.79C>T	p.L27=	Synonymous	1/5	-	1
10-102748049-C-T	c.82C>T	p.P28S	Missense	1/5	-	2
10-102748050-C-T	c.83C>T	p.P28L	Missense	1/5	-	1
10-102748052-C-G	c.85C>G	p.R29G	Missense	1/5	-	2
10-102748052-C-T	c.85C>T	p.R29*	Nonsense	1/5	-	3
10-102748055-AA-TT	c.88_89inv	p.N30F	Missense	1/5	-	1
10-102748056-A-G	c.89A>G	p.N30S	Missense	1/5	-	1
10-102748058-T-A	c.91T>A	p.L31M	Missense	1/5	-	1
10-102748058-T-C	c.91T>C	p.L31=	Synonymous	1/5	-	1
10-102748060-G-T	c.93G>T	p.L31F	Missense	1/5	-	1
10-102748061-G-A	c.94G>A	p.A32T	Missense	1/5	-	1
10-102748061-G-T	c.94G>T	p.A32S	Missense	1/5	-	2
10-102748064-C-T	c.97C>T	p.P33S	Missense	1/5	-	2
10-102748065-C-T	c.98C>T	p.P33L	Missense	1/5	-	1
10-102748067-G-A	c.100G>A	p.G34S	Missense	1/5	-	3
10-102748067-G-T	c.100G>T	p.G34C	Missense	1/5	-	1
10-102748068-G-A	c.101G>A	p.G34D	Missense	1/5	-	1
10-102748068-GC-AG	c.101_102delinsAG	p.G34E	Missense	1/5	-	1
10-102748070-CC-GG	c.103_104inv	p.P35G	Missense	1/5	-	3
10-102748070-C-T	c.103C>T	p.P35S	Missense	1/5	-	1
10-102748071-C-T	c.104C>T	p.P35L	Missense	1/5	-	5
10-102748073-C-A	c.106C>A	p.P36T	Missense	1/5	-	1
10-102748073-C-T	c.106C>T	p.P36S	Missense	1/5	-	8
10-102748074-C-T	c.107C>T	p.P36L	Missense	1/5	-	1
10-102748076-CGC-AAG	c.109_111delinsAAG	p.R37K	Missense	1/5	-	1
10-102748076-CG-GC	c.109_110delinsGC	p.R37A	Missense	1/5	-	1
10-102748079-A-G	c.112A>G	p.R38G	Missense	1/5	-	1
10-102748079-AGA-CAT	c.112_114delinsCAT	p.R38H	Missense	1/5	-	1
10-102748079-AG-CC	c.112_113delinsCC	p.R38P	Missense	1/5	-	1
10-102748079-A-C	c.112A>C	p.R38=	Synonymous	1/5	-	1
10-102748081-A-G	c.114A>G	p.R38=	Synonymous	1/5	-	1
10-102748082-C-T	c.115C>T	p.R39C	Missense	1/5	-	3
10-102748083-G-A	c.116G>A	p.R39H	Missense	1/5	-	2
10-102748088-AG-CA	c.121_122delinsCA	p.R41Q	Missense	1/5	-	1
10-102748089-G-A	c.122G>A	p.R41K	Missense	1/5	-	2
10-102748090-G-C	c.123G>C	p.R41S	Missense	1/5	-	1
10-102748093-G-A	c.126G>A	p.K42=	Synonymous	1/5	-	1
10-102748094-G-A	c.127G>A	p.E43K	Missense	1/5	-	1
10-102748097-A-G	c.130A>G	p.T44A	Missense	1/5	-	1
10-102748100-C-T	c.133C>T	p.L45F	Missense	1/5	-	1
10-102748102-C-G	c.135C>G	p.L45=	Synonymous	1/5	-	1
10-102748104-A-G	c.137A>G	p.Q46R	Missense	1/5	-	1
10-102748103-CA-C	c.138del	p.A47Pfs*9	Frameshift	1/5	-	1
10-102748106-G-A	c.139G>A	p.A47T	Missense	1/5	-	3
10-102748106-G-C	c.139G>C	p.A47P	Missense	1/5	-	1
10-102748106-GC-AA	c.139_140delinsAA	p.A47N	Missense	1/5	-	1
10-102748106-GCC-TAA	c.139_141delinsTAA	p.A47*	Nonsense	1/5	-	1
10-102748108-C-A	c.141C>A	p.A47=	Synonymous	1/5	-	3
10-102748108-C-G	c.141C>G	p.A47=	Synonymous	1/5	-	3
10-102748108-C-T	c.141C>T	p.A47=	Synonymous	1/5	-	3
10-102748109-T-C	c.142T>C	p.L48=	Synonymous	1/5	-	1
10-102748111-G-A	c.144G>A	p.L48=	Synonymous	1/5	-	1
10-102748112-G-A	c.145G>A	p.D49N	Missense	1/5	-	2
10-102748113-A-T	c.146A>T	p.D49V	Missense	1/5	-	1
10-102748114-T-G	c.147T>G	p.D49E	Missense	1/5	-	1
10-102748115-A-T	c.148A>T	p.M50L	Missense	1/5	-	1
10-102748118-C-T	c.151C>T	p.P51S	Missense	1/5	-	1
10-102748121-G-A	c.154G>A	p.V52M	Missense	1/5	-	1
10-102748127-C-A	c.160C>A	p.P54T	Missense	1/5	-	1
10-102748134-C-CT	c.168dup	p.A57Cfs*3	Frameshift	1/5	-	1
10-102748135-T-A	c.168T>A	p.T56=	Synonymous	1/5	-	1
10-102748135-T-C	c.168T>C	p.T56=	Synonymous	1/5	-	1
10-102748135-T-G	c.168T>G	p.T56=	Synonymous	1/5	-	1
10-102748136-G-A	c.169G>A	p.A57T	Missense	1/5	-	2
10-102748139-A-G	c.172A>G	p.T58A	Missense	1/5	-	1
10-102748140-C-T	c.173C>T	p.T58I	Missense	1/5	-	1
10-102748142-G-A	c.175G>A	p.E59K	Missense	1/5	-	6
10-102748142-GAA-TTT	c.175_177delinsTTT	p.E59F	Missense	1/5	-	1
10-102748142-G-T	c.175G>T	p.E59*	Nonsense	1/5	-	1
10-102748144-A-G	c.177A>G	p.E59=	Synonymous	1/5	-	1
10-102748145-A-C	c.178A>C	p.I60L	Missense	1/5	-	1
10-102748148-C-T	c.181C>T	p.R61C	Missense	1/5	-	2
10-102748149-G-A	c.182G>A	p.R61H	Missense	1/5	-	3
10-102748155-A-G	c.188A>G	p.Y63C	Missense	1/5	-	2
10-102748157-T-A	c.190T>A	p.L64M	Missense	1/5	-	1
10-102748160-C-A	c.193C>A	p.R65=	Synonymous	1/5	-	1
10-102748160-CGG-AGC	c.193_195delinsAGC	p.R65S	Missense	1/5	-	1
10-102748160-C-T	c.193C>T	p.R65W	Missense	1/5	-	1
10-102748162-G-A	c.195G>A	p.R65=	Synonymous	1/5	-	1
10-102748162-G-C	c.195G>C	p.R65=	Synonymous	1/5	-	1
10-102748162-G-T	c.195G>T	p.R65=	Synonymous	1/5	-	1
10-102748161-G-A	c.194G>A	p.R65Q	Missense	1/5	-	7
10-102748161-G-T	c.194G>T	p.R65L	Missense	1/5	-	2
10-102748163-G-A	c.196G>A	p.G66R	Missense	1/5	-	2
10-102748164-G-A	c.197G>A	p.G66E	Missense	1/5	-	1
10-102748165-G-A	c.198G>A	p.G66=	Synonymous	1/5	-	1
10-102748167-A-G	c.200A>G	p.H67R	Missense	1/5	-	2
10-102748172-A-C	c.205A>C	p.I69L	Missense	1/5	-	1
10-102748172-A-T	c.205A>T	p.I69F	Missense	1/5	-	1
10-102748173-AT-A	c.206del	p.I69Tfs*13	Frameshift	1/5	-	1
10-102748175-C-G	c.208C>G	p.P70A	Missense	1/5	-	1
10-102748175-C-T	c.208C>T	p.P70S	Missense	1/5	-	1
10-102748177-C-A	c.210C>A	p.P70=	Synonymous	1/5	-	1
10-102748177-C-G	c.210C>G	p.P70=	Synonymous	1/5	-	1
10-102748177-C-T	c.210C>T	p.P70=	Synonymous	1/5	-	1
10-102748188-G-A	c.221G>A	p.G74D	Missense	1/5	-	1
10-102748191-A-G	c.224A>G	p.H75R	Missense	1/5	-	2
10-102748193-AG-GC	c.226_227delinsGC	p.S76A	Missense	1/5	-	1
10-102748194-G-T	c.227G>T	p.S76I	Missense	1/5	-	1
10-102748195-T-C	c.228T>C	p.S76=	Synonymous	1/5	-	1
10-102748196-TG-GT	c.229_230delinsGT	p.C77V	Missense	1/5	-	1
10-102748200-T-C	c.233T>C	p.L78P	Missense	1/5	-	1
10-102748200-T-G	c.233T>G	p.L78R	Missense	1/5	-	1
10-102748202-C-T	c.235C>T	p.R79W	Missense	1/5	-	3
10-102748203-G-A	c.236G>A	p.R79Q	Missense	1/5	-	1
10-102748203-GG-AT	c.236_237delinsAT	p.R79H	Missense	1/5	-	1
10-102748205-G-A	c.238G>A	p.A80T	Missense	1/5	-	4
10-102748208-C-G	c.241C>G	p.L81V	Missense	1/5	-	3
10-102748208-C-T	c.241C>T	p.L81=	Synonymous	1/5	-	1
10-102748208-CTG-TTT	c.241_243delinsTTT	p.L81F	Missense	1/5	-	1
10-102748211-A-G	c.244A>G	p.S82G	Missense	1/5	-	1
10-102748211-AG-TT	c.244_245delinsTT	p.S82F	Missense	1/5	-	1
10-102748211-A-T	c.244A>T	p.S82C	Missense	1/5	-	1
10-102748212-G-T	c.245G>T	p.S82I	Missense	1/5	-	1
10-102748214-C-G	c.247C>G	p.P83A	Missense	1/5	-	1
10-102748214-C-T	c.247C>T	p.P83S	Missense	1/5	-	4
10-102748215-C-T	c.248C>T	p.P83L	Missense	1/5	-	3
10-102748212-GC-G	c.249del	p.F84Lfs*31	Frameshift	1/5	-	1
10-102748217-T-C	c.250T>C	p.F84L	Missense	1/5	-	1
10-102748218-T-C	c.251T>C	p.F84S	Missense	1/5	-	1
10-102748220-G-A	c.253G>A	p.A85T	Missense	1/5	-	1
10-102748220-GCA-TGT	c.253_255delinsTGT	p.A85C	Missense	1/5	-	1
10-102748220-G-T	c.253G>T	p.A85S	Missense	1/5	-	1
10-102748223-G-A	c.256G>A	p.E86K	Missense	1/5	-	1
10-102748223-G-C	c.256G>C	p.E86Q	Missense	1/5	-	1
10-102748226-T-C	c.259T>C	p.S87P	Missense	1/5	-	1
10-102748227-C-T	c.260C>T	p.S87F	Missense	1/5	-	1
10-102748230-CA-GT	c.263_264delinsGT	p.S88C	Missense	1/5	-	1
10-102748232-C-T	c.265C>T	p.Q89*	Nonsense	1/5	-	1
10-102748235-C-G	c.268C>G	p.L90V	Missense	1/5	-	1
10-102748236-T-A	c.269T>A	p.L90H	Missense	1/5	-	1
10-102748236-T-C	c.269T>C	p.L90P	Missense	1/5	-	1
10-102748241-G-A	c.274G>A	p.G92S	Missense	1/5	-	2
10-102748241-G-C	c.274G>C	p.G92R	Missense	1/5	-	1
10-102748242-G-A	c.275G>A	p.G92D	Missense	1/5	-	2
10-102748245-A-G	c.278A>G	p.Q93R	Missense	1/5	-	1
10-102748246-G-A	c.279G>A	p.Q93=	Synonymous	1/5	-	1
10-102748247-A-G	c.280A>G	p.T94A	Missense	1/5	-	1
10-102748248-C-G	c.281C>G	p.T94S	Missense	1/5	-	1
10-102748248-C-T	c.281C>T	p.T94I	Missense	1/5	-	1
10-102748251-G-A	c.284G>A	p.G95D	Missense	1/5	-	1
10-102748251-G-C	c.284G>C	p.G95A	Missense	1/5	-	1
10-102748251-GT-AG	c.284_285delinsAG	p.G95E	Missense	1/5	-	1
10-102748253-G-A	c.286G>A	p.V96I	Missense	1/5	-	1
10-102748257-C-A	c.290C>A	p.T97N	Missense	1/5	-	1
10-102748257-C-G	c.290C>G	p.T97S	Missense	1/5	-	1
10-102748257-C-T	c.290C>T	p.T97I	Missense	1/5	-	1
10-102748259-AC-GG	c.292_293delinsGG	p.T98G	Missense	1/5	-	13
10-102748260-C-A	c.293C>A	p.T98N	Missense	1/5	-	1
10-102748262-T-C	c.295T>C	p.S99P	Missense	1/5	-	1
10-102748262-TC-CT	c.295_296delinsCT	p.S99L	Missense	1/5	-	1
10-102748263-C-A	c.296C>A	p.S99Y	Missense	1/5	-	1
10-102748263-C-T	c.296C>T	p.S99F	Missense	1/5	-	4
10-102748266-T-C	c.299T>C	p.F100S	Missense	1/5	-	1
10-102748268-AG-CC	c.301_302delinsCC	p.S101P	Missense	1/5	-	1
10-102748268-AG-TT	c.301_302delinsTT	p.S101F	Missense	1/5	-	1
10-102748268-A-T	c.301A>T	p.S101C	Missense	1/5	-	1
10-102748269-G-A	c.302G>A	p.S101N	Missense	1/5	-	1
10-102748269-G-T	c.302G>T	p.S101I	Missense	1/5	-	1
10-102748272-T-C	c.305T>C	p.L102P	Missense	1/5	-	1
10-102748277-A-T	c.310A>T	p.I104F	Missense	1/5	-	5
10-102748280-G-A	c.313G>A	p.D105N	Missense	1/5	-	1
10-102748282-C-A	c.315C>A	p.D105E	Missense	1/5	-	1
10-102748282-C-T	c.315C>T	p.D105=	Synonymous	1/5	-	1
10-102748283-A-G	c.316A>G	p.K106E	Missense	1/5	-	1
10-102748287-C-T	c.320C>T	p.T107I	Missense	1/5	-	1
10-102748289-A-G	c.322A>G	p.T108A	Missense	1/5	-	1
10-102748290-CA-TG	c.323_324inv	p.T108M	Missense	1/5	-	1
10-102748290-C-T	c.323C>T	p.T108I	Missense	1/5	-	2
10-102748291-A-C	c.324A>C	p.T108=	Synonymous	1/5	-	1
10-102748291-A-G	c.324A>G	p.T108=	Synonymous	1/5	-	1
10-102748291-A-T	c.324A>T	p.T108=	Synonymous	1/5	-	1
10-102748293-G-A	c.326G>A	p.G109D	Missense	1/5	-	1
10-102748293-G-T	c.326G>T	p.G109V	Missense	1/5	-	1
10-102748295-CA-AT	c.328_329delinsAT	p.H110I	Missense	1/5	-	1
10-102748295-C-T	c.328C>T	p.H110Y	Missense	1/5	-	1
10-102748296-A-C	c.329A>C	p.H110P	Missense	1/5	-	1
10-102748297-C-A	c.330C>A	p.H110Q	Missense	1/5	-	1
10-102748297-C-G	c.330C>G	p.H110Q	Missense	1/5	-	1
10-102748299-T-C	c.332T>C	p.F111S	Missense	1/5	-	1
10-102748297-CT-C	c.333del	p.L112Sfs*3	Frameshift	1/5	-	1
10-102748301-C-A	c.334C>A	p.L112I	Missense	1/5	-	1
10-102748301-C-G	c.334C>G	p.L112V	Missense	1/5	-	1
10-102748301-C-T	c.334C>T	p.L112F	Missense	1/5	-	1
10-102748299-TTC-T	c.336_337del	p.C113Hfs*30	Frameshift	1/5	-	1
10-102748304-T-A	c.337T>A	p.C113S	Missense	1/5	-	2
10-102748305-G-A	c.338G>A	p.C113Y	Missense	1/5	-	1
10-102748305-G-C	c.338G>C	p.C113S	Missense	1/5	-	2
10-102748307-A-T	c.340A>T	p.M114L	Missense	1/5	-	2
10-102748307-AT-CC	c.340_341delinsCC	p.M114P	Missense	1/5	-	1
10-102748308-T-C	c.341T>C	p.M114T	Missense	1/5	-	1
10-102748308-T-G	c.341T>G	p.M114R	Missense	1/5	-	2
10-102748310-A-G	c.343A>G	p.T115A	Missense	1/5	-	2
10-102748311-CC-TG	c.344_345delinsTG	p.T115M	Missense	1/5	-	1
10-102748311-C-T	c.344C>T	p.T115I	Missense	1/5	-	2
10-102748316-CTA-TTT	c.349_351delinsTTT	p.L117F	Missense	1/5	-	1
10-102748318-A-G	c.351A>G	p.L117=	Synonymous	1/5	-	1
10-102748319-G-A	c.352G>A	p.A118T	Missense	1/5	-	1
10-102748320-C-A	c.353C>A	p.A118E	Missense	1/5	-	2
10-102748320-C-G	c.353C>G	p.A118G	Missense	1/5	-	2
10-102748320-C-T	c.353C>T	p.A118V	Missense	1/5	-	3
10-102748321-A-C	c.354A>C	p.A118=	Synonymous	1/5	-	1
10-102748321-A-G	c.354A>G	p.A118=	Synonymous	1/5	-	1
10-102748321-A-T	c.354A>T	p.A118=	Synonymous	1/5	-	1
10-102748322-G-A	c.355G>A	p.E119K	Missense	1/5	-	1
10-102748326-G-T	c.359G>T	p.G120V	Missense	1/5	-	1
10-102748327-G-A	c.360G>A	p.G120=	Synonymous	1/5	-	2
10-102748327-G-C	c.360G>C	p.G120=	Synonymous	1/5	-	1
10-102748327-G-T	c.360G>T	p.G120=	Synonymous	1/5	-	1
10-102748328-AGC-GAG	c.361_363delinsGAG	p.S121E	Missense	1/5	-	1
10-102748328-A-T	c.361A>T	p.S121C	Missense	1/5	-	1
10-102748329-G-GC	c.363dup	p.W122Lfs*22	Frameshift	1/5	-	1
10-102748334-G-A	c.367G>A	p.E123K	Missense	1/5	-	3
10-102748334-G-T	c.367G>T	p.E123*	Nonsense	1/5	-	1
10-102748337-G-A	c.370G>A	p.D124N	Missense	1/5	-	1
10-102748340-T-C	c.373T>C	p.F125L	Missense	1/5	-	1
10-102748342-C-G	c.375C>G	p.F125L	Missense	1/5	-	1
10-102748342-C-A	c.375C>A	p.F125L	Missense	1/5	-	2
10-102748343-C-T	c.376C>T	p.Q126*	Nonsense	1/5	-	1
10-102748347-C-T	c.380C>T	p.A127V	Missense	1/5	-	1
10-102748346-GC-G	c.381del	p.S128Afs*92	Frameshift	1/5	-	1
10-102748349-AG-CT	c.382_383inv	p.S128L	Missense	1/5	-	1
10-102748349-AG-TA	c.382_383delinsTA	p.S128Y	Missense	1/5	-	1
10-102748350-G-T	c.383G>T	p.S128I	Missense	1/5	-	1
10-102748351-C-T	c.384C>T	p.S128=	Synonymous	1/5	-	1
10-102748352-G-A	c.385G>A	p.V129M	Missense	1/5	-	1
10-102748353-T-A	c.386T>A	p.V129E	Missense	1/5	-	1
10-102748354-G-A	c.387G>A	p.V129=	Synonymous	1/5	-	1
10-102748355-G-C	c.388G>C	p.E130Q	Missense	1/5	-	1
10-102748358-GGG-AGC	c.391_393delinsAGC	p.G131S	Missense	1/5	-	2
10-102748361-C-T	c.394C>T	p.R132*	Nonsense	1/5	-	4
10-102748362-G-A	c.395G>A	p.R132Q	Missense	1/5	-	1
10-102748362-G-T	c.395G>T	p.R132L	Missense	1/5	-	1
10-102748364-G-A	c.397G>A	p.G133R	Missense	1/5	-	1
10-102748365-G-T	c.398G>T	p.G133V	Missense	1/5	-	1
10-102748367-G-A	c.400G>A	p.D134N	Missense	1/5	-	5
10-102748371-G-A	c.404G>A	p.G135E	Missense	1/5	-	1
10-102748373-G-C	c.406G>C	p.A136P	Missense	1/5	-	1
10-102748376-AG-TA	c.409_410delinsTA	p.R137*	Nonsense	1/5	-	1
10-102748376-A-T	c.409A>T	p.R137W	Missense	1/5	-	1
10-102748377-G-A	c.410G>A	p.R137K	Missense	1/5	-	3
10-102748377-G-C	c.410G>C	p.R137T	Missense	1/5	-	1
10-102748377-GG-TC	c.410_411delinsTC	p.R137I	Missense	1/5	-	1
10-102748378-G-C	c.411G>C	p.R137S	Missense	1/5	-	1
10-102748378-G-T	c.411G>T	p.R137S	Missense	1/5	-	1
10-102748379-G-T	c.412G>T	p.E138*	Nonsense	1/5	-	1
10-102748377-GGGA-G	c.413_415del	p.E138del	InFrameDeletion	1/5	-	1
10-102748380-A-G	c.413A>G	p.E138G	Missense	1/5	-	1
10-102748383-G-A	c.416G>A	p.G139E	Missense	1/5	-	1
10-102748384-G-A	c.417G>A	p.G139=	Synonymous	1/5	-	2
10-102748384-G-C	c.417G>C	p.G139=	Synonymous	1/5	-	1
10-102748384-G-T	c.417G>T	p.G139=	Synonymous	1/5	-	2
10-102748386-T-C	c.419T>C	p.F140S	Missense	1/5	-	1
10-102748391-C-T	c.424C>T	p.L142F	Missense	1/5	-	1
10-102748394-AG-CC	c.427_428delinsCC	p.S143P	Missense	1/5	-	1
10-102748394-AGC-TGA	c.427_429delinsTGA	p.S143*	Nonsense	1/5	-	1
10-102748400-G-A	c.433G>A	p.A145T	Missense	1/5	-	1
10-102748401-C-T	c.434C>T	p.A145V	Missense	1/5	-	1
10-102748404-C-T	c.437C>T	p.P146L	Missense	1/5	-	1
10-102748409-T-C	c.442T>C	p.F148L	Missense	1/5	-	1
10-102748412-G-T	c.445G>T	p.E149*	Nonsense	1/5	-	1
10-102748415-G-A	c.448G>A	p.D150N	Missense	1/5	-	2
10-102748417-C-T	c.450C>T	p.D150=	Synonymous	1/5	-	1
10-102748418-AG-CC	c.451_452delinsCC	p.S151P	Missense	1/5	-	2
10-102748418-AG-TT	c.451_452delinsTT	p.S151F	Missense	1/5	-	1
10-102748419-G-A	c.452G>A	p.S151N	Missense	1/5	-	1
10-102748419-G-C	c.452G>C	p.S151T	Missense	1/5	-	1
10-102748418-A-C	c.451A>C	p.S151R	Missense	1/5	-	1
10-102748420-C-A	c.453C>A	p.S151R	Missense	1/5	-	1
10-102748420-C-G	c.453C>G	p.S151R	Missense	1/5	-	1
10-102748421-G-A	c.454G>A	p.E152K	Missense	1/5	-	1
10-102748421-G-C	c.454G>C	p.E152Q	Missense	1/5	-	1
10-102748424-G-A	c.457G>A	p.E153K	Missense	1/5	-	1
10-102748424-G-T	c.457G>T	p.E153*	Nonsense	1/5	-	1
10-102748425-A-G	c.458A>G	p.E153G	Missense	1/5	-	2
10-102748425-A-T	c.458A>T	p.E153V	Missense	1/5	-	1
10-102748428-T-A	c.461T>A	p.V154D	Missense	1/5	-	1
10-102748428-TC-AG	c.461_462delinsAG	p.V154E	Missense	1/5	-	1
10-102748429-C-A	c.462C>A	p.V154=	Synonymous	1/5	-	2
10-102748429-C-G	c.462C>G	p.V154=	Synonymous	1/5	-	2
10-102748429-C-T	c.462C>T	p.V154=	Synonymous	1/5	-	2
10-102748430-C-G	c.463C>G	p.R155G	Missense	1/5	-	1
10-102748430-C-T	c.463C>T	p.R155W	Missense	1/5	-	1
10-102748431-G-A	c.464G>A	p.R155Q	Missense	1/5	-	1
10-102748434-G-A	c.467G>A	p.R156K	Missense	1/5	-	1
10-102748435-G-C	c.468G>C	p.R156S	Missense	1/5	-	1
10-102748438-C-A	c.471C>A	p.I157=	Synonymous	1/5	-	1
10-102748438-C-G	c.471C>G	p.I157M	Missense	1/5	-	1
10-102748438-C-T	c.471C>T	p.I157=	Synonymous	1/5	-	1
10-102748440-G-A	c.473G>A	p.W158*	Nonsense	1/5	-	1
10-102748440-G-T	c.473G>T	p.W158L	Missense	1/5	-	1
10-102748441-G-A	c.474G>A	p.W158*	Nonsense	1/5	-	1
10-102748441-G-C	c.474G>C	p.W158C	Missense	1/5	-	1
10-102748441-G-T	c.474G>T	p.W158C	Missense	1/5	-	1
10-102748445-CGA-TGT	c.478_480delinsTGT	p.R160C	Missense	1/5	-	1
10-102748446-G-A	c.479G>A	p.R160Q	Missense	1/5	-	1
10-102748451-A-G	c.484A>G	p.I162V	Missense	1/5	-	1
10-102748452-T-G	c.485T>G	p.I162R	Missense	1/5	-	2
10-102748454-C-T	c.487C>T	p.P163S	Missense	1/5	-	2
10-102748455-C-T	c.488C>T	p.P163L	Missense	1/5	-	1
10-102748457-C-T	c.490C>T	p.L164F	Missense	1/5	-	1
10-102748459-C-A	c.492C>A	p.L164=	Synonymous	1/5	-	3
10-102748459-C-G	c.492C>G	p.L164=	Synonymous	1/5	-	3
10-102748459-C-T	c.492C>T	p.L164=	Synonymous	1/5	-	5
10-102748461-G-C	c.494G>C	p.W165S	Missense	1/5	-	1
10-102748462-G-C	c.495G>C	p.W165C	Missense	1/5	-	1
10-102748462-G-T	c.495G>T	p.W165C	Missense	1/5	-	1
10-102748466-C-G	c.499C>G	p.L167V	Missense	1/5	-	1
10-102748466-CTG-TTT	c.499_501delinsTTT	p.L167F	Missense	1/5	-	1
10-102748466-CT-TC	c.499_500delinsTC	p.L167S	Missense	1/5	-	2
10-102748467-T-C	c.500T>C	p.L167P	Missense	1/5	-	1
10-102748466-C-T	c.499C>T	p.L167=	Synonymous	1/5	-	2
10-102748468-G-A	c.501G>A	p.L167=	Synonymous	1/5	-	2
10-102748468-G-C	c.501G>C	p.L167=	Synonymous	1/5	-	2
10-102748468-G-T	c.501G>T	p.L167=	Synonymous	1/5	-	2
10-102748470-C-G	c.503C>G	p.P168R	Missense	1/5	-	1
10-102748473-A-T	c.506A>T	p.D169V	Missense	1/5	-	1
10-102748478-G-T	c.511G>T	p.E171*	Nonsense	1/5	-	1
10-102748482-A-C	c.515A>C	p.E172A	Missense	1/5	-	1
10-102748484-G-A	c.517G>A	p.V173I	Missense	1/5	-	1
10-102748484-G-C	c.517G>C	p.V173L	Missense	1/5	-	1
10-102748485-T-C	c.518T>C	p.V173A	Missense	1/5	-	1
10-102748487-C-G	c.520C>G	p.Q174E	Missense	1/5	-	2
10-102748489-G-C	c.522G>C	p.Q174H	Missense	1/5	-	1
10-102748491-T-C	c.524T>C	p.L175P	Missense	1/5	-	1
10-102748490-C-T	c.523C>T	p.L175=	Synonymous	1/5	-	1
10-102748492-G-A	c.525G>A	p.L175=	Synonymous	1/5	-	1
10-102748492-G-C	c.525G>C	p.L175=	Synonymous	1/5	-	1
10-102748492-G-T	c.525G>T	p.L175=	Synonymous	1/5	-	1
10-102748493-G-A	c.526G>A	p.A176T	Missense	1/5	-	2
10-102748493-G-C	c.526G>C	p.A176P	Missense	1/5	-	1
10-102748493-G-T	c.526G>T	p.A176S	Missense	1/5	-	1
10-102748496-GA-CG	c.529_530delinsCG	p.D177R	Missense	1/5	-	1
10-102748498-T-C	c.531T>C	p.D177=	Synonymous	1/5	-	1
10-102748499-AC-GT	c.532_533inv	p.T178V	Missense	1/5	-	1
10-102748500-C-G	c.533C>G	p.T178R	Missense	1/5	-	1
10-102748502-A-G	c.535A>G	p.M179V	Missense	1/5	-	2
10-102748504-G-GC	c.537_538insC	p.F180Lfs*9	Frameshift	1/5	-	1
10-102748506-T-G	c.539T>G	p.F180C	Missense	1/5	-	1
10-102748507-T-C	c.540T>C	p.F180=	Synonymous	1/5	-	1
10-102748508-TGGCC-T	c.541_544del	p.G181Lfs*38	Frameshift	1/5	-	1
10-102748509-G-A	c.542G>A	p.G181D	Missense	1/5	-	1
10-102748510-C-A	c.543C>A	p.G181=	Synonymous	1/5	-	1
10-102748510-C-G	c.543C>G	p.G181=	Synonymous	1/5	-	1
10-102748510-C-T	c.543C>T	p.G181=	Synonymous	1/5	-	1
10-102748511-C-T	c.544C>T	p.L182F	Missense	1/5	-	1
10-102748512-T-C	c.545T>C	p.L182P	Missense	1/5	-	5
10-102748515-C-G	c.548C>G	p.T183S	Missense	1/5	-	1
10-102748515-C-T	c.548C>T	p.T183I	Missense	1/5	-	1
10-102748518-A-C	c.551A>C	p.K184T	Missense	1/5	-	1
10-102748518-A-G	c.551A>G	p.K184R	Missense	1/5	-	2
10-102748520-G-A	c.553G>A	p.V185I	Missense	1/5	-	1
10-102748521-T-C	c.554T>C	p.V185A	Missense	1/5	-	1
10-102748521-T-G	c.554T>G	p.V185G	Missense	1/5	-	1
10-102748522-T-A	c.555T>A	p.V185=	Synonymous	1/5	-	1
10-102748522-T-C	c.555T>C	p.V185=	Synonymous	1/5	-	1
10-102748522-T-G	c.555T>G	p.V185=	Synonymous	1/5	-	2
10-102748524-C-G	c.557C>G	p.T186R	Missense	1/5	-	1
10-102748526-G-A	c.559G>A	p.D187N	Missense	1/5	-	1
10-102748526-G-T	c.559G>T	p.D187Y	Missense	1/5	-	2
10-102748527-A-G	c.560A>G	p.D187G	Missense	1/5	-	3
10-102748528-T-A	c.561T>A	p.D187E	Missense	1/5	-	1
10-102748529-G-A	c.562G>A	p.D188N	Missense	1/5	-	1
10-102748529-TGAC-T	c.562_564del	p.D188del	InFrameDeletion	1/5	-	1
10-102748530-A-G	c.563A>G	p.D188G	Missense	1/5	-	2
10-102748531-C-A	c.564C>A	p.D188E	Missense	1/5	-	2
10-102748533-C-T	c.566C>T	p.T189I	Missense	1/5	-	2
10-102748534-A-AC	c.568dup	p.L190Pfs*36	Frameshift	1/5	-	1
10-102748535-C-A	c.568C>A	p.L190I	Missense	1/5	-	1
10-102748537-C-A	c.570C>A	p.L190=	Synonymous	1/5	-	2
10-102748537-C-G	c.570C>G	p.L190=	Synonymous	1/5	-	2
10-102748537-C-T	c.570C>T	p.L190=	Synonymous	1/5	-	2
10-102748538-A-C	c.571A>C	p.K191Q	Missense	1/5	-	1
10-102748539-A-G	c.572A>G	p.K191R	Missense	1/5	-	1
10-102748540-G-T	c.573G>T	p.K191N	Missense	1/5	-	1
10-102748541-C-T	c.574C>T	p.R192C	Missense	1/5	-	2
10-102748546-C-T	c.579C>T	p.F193=	Synonymous	1/5	-	2
10-102748547-AG-CT	c.580_581inv	p.S194L	Missense	1/5	-	1
10-102748547-A-T	c.580A>T	p.S194C	Missense	1/5	-	1
10-102748549-T-C	c.582T>C	p.S194=	Synonymous	1/5	-	1
10-102748550-G-A	c.583G>A	p.V195M	Missense	1/5	-	2
10-102748553-C-T	c.586C>T	p.R196*	Nonsense	1/5	-	2
10-102748554-G-A	c.587G>A	p.R196Q	Missense	1/5	-	1
10-102748562-C-T	c.595C>T	p.R199*	Nonsense	1/5	-	2
10-102748563-G-A	c.596G>A	p.R199Q	Missense	1/5	-	1
10-102748565-CCT-GAG	c.598_600delinsGAG	p.P200E	Missense	1/5	-	1
10-102748565-C-T	c.598C>T	p.P200S	Missense	1/5	-	1
10-102748569-C-T	c.602C>T	p.A201V	Missense	1/5	-	1
10-102748571-C-A	c.604C>A	p.R202S	Missense	1/5	-	1
10-102748571-C-T	c.604C>T	p.R202C	Missense	1/5	-	1
10-102748572-G-A	c.605G>A	p.R202H	Missense	1/5	-	1
10-102748574-A-C	c.607A>C	p.S203R	Missense	1/5	-	2
10-102748575-G-GTGTCT	c.609_610insGTCTT	p.L204Vfs*18	Frameshift	1/5	-	1
10-102748576-T-A	c.609T>A	p.S203R	Missense	1/5	-	1
10-102748576-T-G	c.609T>G	p.S203R	Missense	1/5	-	1
10-102748577-C-T	c.610C>T	p.L204F	Missense	1/5	-	1
10-102748578-T-G	c.611T>G	p.L204R	Missense	1/5	-	1
10-102748580-G-T	c.613G>T	p.V205F	Missense	1/5	-	1
10-102748581-T-G	c.614T>G	p.V205G	Missense	1/5	-	1
10-102748583-T-C	c.616T>C	p.F206L	Missense	1/5	-	2
10-102748585-C-A	c.618C>A	p.F206L	Missense	1/5	-	2
10-102748585-C-G	c.618C>G	p.F206L	Missense	1/5	-	2
10-102748584-T-G	c.617T>G	p.F206C	Missense	1/5	-	1
10-102748585-C-T	c.618C>T	p.F206=	Synonymous	1/5	-	2
10-102748586-C-A	c.619C>A	p.P207T	Missense	1/5	-	1
10-102748587-C-T	c.620C>T	p.P207L	Missense	1/5	-	1
10-102748589-T-C	c.622T>C	p.W208R	Missense	1/5	-	1
10-102748590-G-A	c.623G>A	p.W208*	Nonsense	1/5	-	1
10-102748591-G-A	c.624G>A	p.W208*	Nonsense	1/5	-	1
10-102748591-G-C	c.624G>C	p.W208C	Missense	1/5	-	1
10-102748596-C-T	c.629C>T	p.S210F	Missense	1/5	-	1
10-102748598-C-G	c.631C>G	p.P211A	Missense	1/5	-	1
10-102748598-C-T	c.631C>T	p.P211S	Missense	1/5	-	1
10-102748599-C-A	c.632C>A	p.P211H	Missense	1/5	-	1
10-102748601-G-A	c.634G>A	p.G212R	Missense	1/5	-	1
10-102748602-G-A	c.635G>A	p.G212E	Missense	1/5	-	1
10-102748602-G-T	c.635G>T	p.G212V	Missense	1/5	-	2
10-102748603-G-A	c.636G>A	p.G212=	Synonymous	1/5	-	3
10-102748603-G-C	c.636G>C	p.G212=	Synonymous	1/5	-	2
10-102748603-G-T	c.636G>T	p.G212=	Synonymous	1/5	-	2
10-102748604-G-C	c.637G>C	p.G213R	Missense	1/5	-	1
10-102748605-G-T	c.638G>T	p.G213V	Missense	1/5	-	1
10-102748606-C-A	c.639C>A	p.G213=	Synonymous	1/5	-	1
10-102748606-C-G	c.639C>G	p.G213=	Synonymous	1/5	-	1
10-102748606-C-T	c.639C>T	p.G213=	Synonymous	1/5	-	4
10-102748607-T-C	c.640T>C	p.S214P	Missense	1/5	-	1
10-102748607-TCA-CAT	c.640_642delinsCAT	p.S214H	Missense	1/5	-	1
10-102748608-C-A	c.641C>A	p.S214*	Nonsense	1/5	-	1
10-102748608-C-G	c.641C>G	p.S214*	Nonsense	1/5	-	1
10-102748608-C-T	c.641C>T	p.S214L	Missense	1/5	-	1
10-102748610-GGA-TGT	c.643_645delinsTGT	p.G215C	Missense	1/5	-	1
10-102748613-T-C	c.646T>C	p.L216=	Synonymous	1/5	-	1
10-102748616-C-A	c.649C>A	p.R217=	Synonymous	1/5	-	1
10-102748617-G-A	c.650G>A	p.R217Q	Missense	1/5	-	4
10-102748617-G-T	c.650G>T	p.R217L	Missense	1/5	-	1
10-102748620-G-A	c.653G>A	p.G218D	Missense	1/5	-	3
10-102748621-C-A	c.654C>A	p.G218=	Synonymous	1/5	-	1
10-102748621-C-G	c.654C>G	p.G218=	Synonymous	1/5	-	1
10-102748621-C-T	c.654C>T	p.G218=	Synonymous	1/5	-	1
10-102748624-G-A	c.657G>A	p.L219=	Synonymous	1/5	-	1
10-102748628-C-T	c.661C>T	p.L221F	Missense	1/5	-	1
10-102748628-CTC-ATG	c.661_663delinsATG	p.L221M	Missense	1/5	-	1
10-102748631-C-T	c.664C>T	p.L222=	Synonymous	1/5	-	2
10-102748632-T-C	c.665T>C	p.L222P	Missense	1/5	-	2
10-102748633-A-C	c.666A>C	p.L222=	Synonymous	1/5	-	1
10-102748633-A-G	c.666A>G	p.L222=	Synonymous	1/5	-	1
10-102748633-A-T	c.666A>T	p.L222=	Synonymous	1/5	-	1
10-102748634-G-A	c.667G>A	p.E223K	Missense	1/5	-	4
10-102748634-G-T	c.667G>T	p.E223*	Nonsense	1/5	-	1
10-102748635-A-T	c.668A>T	p.E223V	Missense	1/5	-	1
10-102748637-G-T	c.670G>T	p.A224S	Missense	1/5	-	1
10-102748638-C-A	c.671C>A	p.A224D	Missense	1/5	-	1
10-102748641-A-T	c.674A>T	p.K225I	Missense	1/5	-	1
10-102748644-G-T	c.677G>T	p.C226F	Missense	1/5	-	1
10-102748645-C-T	c.678C>T	p.C226=	Synonymous	1/5	-	1
10-102748646-C-A	c.679C>A	p.Q227K	Missense	1/5	-	2
10-102748647-A-C	c.680A>C	p.Q227P	Missense	1/5	-	2
10-102748649-G-A	c.682G>A	p.G228R	Missense	1/5	-	1
10-102748649-GGG-AGC	c.682_684delinsAGC	p.G228S	Missense	1/5	-	1
10-102748650-G-A	c.683G>A	p.G228E	Missense	1/5	-	3
10-102748652-G-C	c.685G>C	p.D229H	Missense	1/5	-	2
10-102748652-G-T	c.685G>T	p.D229Y	Missense	1/5	-	3
10-102748656-G-T	c.689G>T	p.G230V	Missense	1/5	-	1
10-102748658-G-C	c.691G>C	p.V231L	Missense	1/5	-	1
10-102748658-G-T	c.691G>T	p.V231L	Missense	1/5	-	1
10-102748661-A-G	c.694A>G	p.S232G	Missense	1/5	-	1
10-102748662-G-A	c.695G>A	p.S232N	Missense	1/5	-	1
10-102748666-AC-A	c.699del	p.Y233*	Frameshift	1/5	-	1
10-102748667-G-A	c.700G>A	p.E234K	Missense	1/5	-	3
10-102748667-G-C	c.700G>C	p.E234Q	Missense	1/5	-	1
10-102748670-G-T	c.703G>T	p.E235*	Nonsense	1/5	-	1
10-102748673-A-G	c.706A>G	p.T236A	Missense	1/5	-	1
10-102748674-C-T	c.707C>T	p.T236I	Missense	1/5	-	1
10-102748675-C-A	c.708C>A	p.T236=	Synonymous	1/5	-	1
10-102748675-C-G	c.708C>G	p.T236=	Synonymous	1/5	-	1
10-102748675-C-T	c.708C>T	p.T236=	Synonymous	1/5	-	1
10-102748676-A-G	c.709A>G	p.T237A	Missense	1/5	-	3
10-102748678-T-A	c.711T>A	p.T237=	Synonymous	1/5	-	1
10-102748678-T-C	c.711T>C	p.T237=	Synonymous	1/5	-	1
10-102748678-T-G	c.711T>G	p.T237=	Synonymous	1/5	-	1
10-102748679-A-C	c.712A>C	p.I238L	Missense	1/5	-	3
10-102748679-A-G	c.712A>G	p.I238V	Missense	1/5	-	1
10-102748683-C-A	c.716C>A	p.P239H	Missense	1/5	-	1
10-102748684-C-T	c.717C>T	p.P239=	Synonymous	1/5	-	1
10-102748685-C-T	c.718C>T	p.R240*	Nonsense	1/5	-	2
10-102748688-C-G	c.721C>G	p.P241A	Missense	1/5	-	1
10-102748688-C-T	c.721C>T	p.P241S	Missense	1/5	-	1
10-102748689-C-T	c.722C>T	p.P241L	Missense	1/5	-	2
10-102748693-C-T	c.726C>T	p.S242=	Synonymous	1/5	-	1
10-102748694-G-A	c.727G>A	p.A243T	Missense	1/5	-	4
10-102748695-C-T	c.728C>T	p.A243V	Missense	1/5	-	1
10-102748696-C-A	c.729C>A	p.A243=	Synonymous	1/5	-	1
10-102748696-C-G	c.729C>G	p.A243=	Synonymous	1/5	-	1
10-102748696-C-T	c.729C>T	p.A243=	Synonymous	1/5	-	1
10-102748698-A-C	c.731A>C	p.Y244S	Missense	1/5	-	1
10-102748700-C-A	c.733C>A	p.H245N	Missense	1/5	-	1
10-102748700-C-T	c.733C>T	p.H245Y	Missense	1/5	-	1
10-102748701-A-G	c.734A>G	p.H245R	Missense	1/5	-	1
10-102748704-A-G	c.737A>G	p.N246S	Missense	1/5	-	1
10-102748706-C-A	c.739C>A	p.L247M	Missense	1/5	-	2
10-102748706-C-T	c.739C>T	p.L247=	Synonymous	1/5	-	1
10-102748710-T-C	c.743T>C	p.F248S	Missense	1/5	-	2
10-102748713-GA-AC	c.746_747delinsAC	p.G249D	Missense	1/5	-	1
10-102748718-C-G	c.751C>G	p.P251A	Missense	1/5	-	1
10-102748719-C-T	c.752C>T	p.P251L	Missense	1/5	-	4
10-102748723-G-A	c.756G>A	p.L252=	Synonymous	1/5	-	1
10-102748727-A-C	c.760A>C	p.S254R	Missense	1/5	-	1
10-102748730-C-T	c.763C>T	p.R255C	Missense	1/5	-	6
10-102748731-G-A	c.764G>A	p.R255H	Missense	1/5	-	1
10-102748733-CGA-AGC	c.766_768delinsAGC	p.R256S	Missense	1/5	-	1
10-102748733-C-T	c.766C>T	p.R256*	Nonsense	1/5	-	3
10-102748734-G-A	c.767G>A	p.R256Q	Missense	1/5	-	1
10-102748737-A-C	c.770A>C	p.D257A	Missense	1/5	-	15
10-102748740-C-A	c.773C>A	p.A258D	Missense	1/5	-	1
10-102748740-C-T	c.773C>T	p.A258V	Missense	1/5	-	1
10-102748742-G-A	c.775G>A	p.E259K	Missense	1/5	-	4
10-102748743-AG-A	c.778del	p.V260Wfs*3	Frameshift	1/5	-	1
10-102748747-G-T	c.780G>T	p.V260=	Synonymous	1/5	-	1
10-102748749-T-C	c.782T>C	p.V261A	Missense	1/5	-	1
10-102748751-C-T	c.784C>T	p.L262=	Synonymous	1/5	-	1
10-102748753-G-A	c.786G>A	p.L262=	Synonymous	1/5	-	1
10-102748753-G-C	c.786G>C	p.L262=	Synonymous	1/5	-	2
10-102748753-G-T	c.786G>T	p.L262=	Synonymous	1/5	-	1
10-102748754-A-G	c.787A>G	p.T263A	Missense	1/5	-	1
10-102748755-C-G	c.788C>G	p.T263R	Missense	1/5	-	1
10-102748755-CG-TC	c.788_789delinsTC	p.T263I	Missense	1/5	-	1
10-102748755-C-T	c.788C>T	p.T263M	Missense	1/5	-	1
10-102748756-G-A	c.789G>A	p.T263=	Synonymous	1/5	-	1
10-102748756-G-C	c.789G>C	p.T263=	Synonymous	1/5	-	1
10-102748756-G-T	c.789G>T	p.T263=	Synonymous	1/5	-	1
10-102748758-G-T	c.791G>T	p.S264I	Missense	1/5	-	1
10-102748760-C-G	c.793C>G	p.R265G	Missense	1/5	-	1
10-102748760-C-T	c.793C>T	p.R265C	Missense	1/5	-	7
10-102748761-G-A	c.794G>A	p.R265H	Missense	1/5	-	5
10-102748761-G-T	c.794G>T	p.R265L	Missense	1/5	-	1
10-102748761-GT-AA	c.794_795delinsAA	p.R265Q	Missense	1/5	-	1
10-102748764-A-C	c.797A>C	p.E266A	Missense	1/5	-	1
10-102748764-GAGCT-G	c.797_800del	p.E266Vfs*6	Frameshift	1/5	-	1
10-102748765-G-A	c.798G>A	p.E266=	Synonymous	1/5	-	1
10-102748766-C-G	c.799C>G	p.L267V	Missense	1/5	-	1
10-102748770-A-T	c.803A>T	p.D268V	Missense	1/5	-	1
10-102748772-A-G	c.805A>G	p.S269G	Missense	1/5	-	1
10-102748774-C-T	c.807C>T	p.S269=	Synonymous	1/5	-	3
10-102748777-G-A	c.810G>A	p.L270=	Synonymous	1/5	-	1
10-102748785-AC-A	c.820del	p.Q274Sfs*52	Frameshift	1/5	-	1
10-102748787-C-T	c.820C>T	p.Q274*	Nonsense	1/5	-	2
10-102748790-T-C	c.823T>C	p.S275P	Missense	1/5	-	1
10-102748790-TC-AA	c.823_824delinsAA	p.S275N	Missense	1/5	-	1
10-102748794-C-T	c.827C>T	p.T276M	Missense	1/5	-	1
10-102748795-G-A	c.828G>A	p.T276=	Synonymous	1/5	-	2
10-102748796-G-T	c.829G>T	p.G277W	Missense	1/5	-	1
10-102748797-GG-AC	c.830_831delinsAC	p.G277D	Missense	1/5	-	1
10-102748799-C-T	c.832C>T	p.L278=	Synonymous	1/5	-	2
10-102748804-T-A	c.837T>A	p.P279=	Synonymous	1/5	-	1
10-102748806-CC-TG	c.839_840delinsTG	p.T280M	Missense	1/5	-	1
10-102748806-C-T	c.839C>T	p.T280I	Missense	1/5	-	2
10-102748812-C-T	c.845C>T	p.T282I	Missense	1/5	-	1
10-102748813-T-A	c.846T>A	p.T282=	Synonymous	1/5	-	1
10-102748813-T-C	c.846T>C	p.T282=	Synonymous	1/5	-	1
10-102748813-T-G	c.846T>G	p.T282=	Synonymous	1/5	-	1
10-102748814-C-G	c.847C>G	p.L283V	Missense	1/5	-	2
10-102748815-T-C	c.848T>C	p.L283P	Missense	1/5	-	1
10-102748817-C-T	c.850C>T	p.P284S	Missense	1/5	-	1
10-102748820-C-T	c.853C>T	p.R285*	Nonsense	1/5	-	1
10-102748821-G-A	c.854G>A	p.R285Q	Missense	1/5	-	3
10-102748821-G-C	c.854G>C	p.R285P	Missense	1/5	-	1
10-102748823-G-A	c.856G>A	p.G286R	Missense	1/5	-	1
10-102748823-GGA-AGC	c.856_858delinsAGC	p.G286S	Missense	1/5	-	1
10-102748827-C-T	c.860C>T	p.T287M	Missense	1/5	-	2
10-102748828-G-A	c.861G>A	p.T287=	Synonymous	1/5	-	2
10-102748833-G-T	c.866G>T	p.C289F	Missense	1/5	-	1
10-102748834-C-T	c.867C>T	p.C289=	Synonymous	1/5	-	1
10-102748838-C-T	c.871C>T	p.P291S	Missense	1/5	-	1
10-102748839-C-A	c.872C>A	p.P291H	Missense	1/5	-	1
10-102748840-C-A	c.873C>A	p.P291=	Synonymous	1/5	-	1
10-102748840-C-G	c.873C>G	p.P291=	Synonymous	1/5	-	1
10-102748840-C-T	c.873C>T	p.P291=	Synonymous	1/5	-	4
10-102748841-C-A	c.874C>A	p.P292T	Missense	1/5	-	3
10-102748841-C-G	c.874C>G	p.P292A	Missense	1/5	-	1
10-102748842-C-T	c.875C>T	p.P292L	Missense	1/5	-	1
10-102748845-C-A	c.878C>A	p.A293D	Missense	1/5	-	1
10-102748846-C-T	c.879C>T	p.A293=	Synonymous	1/5	-	4
10-102748852-C-A	c.885C>A	p.L295=	Synonymous	1/5	-	1
10-102748852-C-G	c.885C>G	p.L295=	Synonymous	1/5	-	1
10-102748852-C-T	c.885C>T	p.L295=	Synonymous	1/5	-	1
10-102748853-C-T	c.886C>T	p.P296S	Missense	1/5	-	3
10-102748859-C-T	c.892C>T	p.L298=	Synonymous	1/5	-	1
10-102748861-G-A	c.894G>A	p.L298=	Synonymous	1/5	-	1
10-102748861-G-C	c.894G>C	p.L298=	Synonymous	1/5	-	2
10-102748861-G-T	c.894G>T	p.L298=	Synonymous	1/5	-	1
10-102748862-G-A	c.895G>A	p.E299K	Missense	1/5	-	1
10-102748862-G-T	c.895G>T	p.E299*	Nonsense	1/5	-	1
10-102748864-A-C	c.897A>C	p.E299D	Missense	1/5	-	1
10-102748864-A-T	c.897A>T	p.E299D	Missense	1/5	-	1
10-102748865-CA-AC	c.898_899delinsAC	p.Q300T	Missense	1/5	-	1
10-102748865-C-T	c.898C>T	p.Q300*	Nonsense	1/5	-	2
10-102748868-T-C	c.901T>C	p.F301L	Missense	1/5	-	1
10-102748870-C-T	c.903C>T	p.F301=	Synonymous	1/5	-	1
10-102748871-C-T	c.904C>T	p.R302W	Missense	1/5	-	6
10-102748872-G-A	c.905G>A	p.R302Q	Missense	1/5	-	1
10-102748874-CGG-TGT	c.907_909delinsTGT	p.R303C	Missense	1/5	-	1
10-102748874-C-T	c.907C>T	p.R303W	Missense	1/5	-	7
10-102748875-G-A	c.908G>A	p.R303Q	Missense	1/5	-	9
10-102748875-G-C	c.908G>C	p.R303P	Missense	1/5	-	1
10-102748874-CG-C	c.909del	p.I304Lfs*22	Frameshift	1/5	-	1
10-102748876-G-A	c.909G>A	p.R303=	Synonymous	1/5	-	3
10-102748877-A-G	c.910A>G	p.I304V	Missense	1/5	-	2
10-102748877-AT-A	c.912del	p.I304Mfs*22	Frameshift	1/5	-	1
10-102748880-G-A	c.913G>A	p.V305I	Missense	1/5	-	2
10-102748880-G-T	c.913G>T	p.V305L	Missense	1/5	-	1
10-102748883-T-A	c.916T>A	p.F306I	Missense	1/5	-	1
10-102748883-T-C	c.916T>C	p.F306L	Missense	1/5	-	1
10-102748885-C-A	c.918C>A	p.F306L	Missense	1/5	-	1
10-102748885-C-G	c.918C>G	p.F306L	Missense	1/5	-	1
10-102748885-C-T	c.918C>T	p.F306=	Synonymous	1/5	-	1
10-102748887-G-A	c.920G>A	p.W307*	Nonsense	1/5	-	1
10-102748892-G-T	c.925G>T	p.G309W	Missense	1/5	-	1
10-102748893-G-A	c.926G>A	p.G309E	Missense	1/5	-	1
10-102748893-G-GGA	c.927_928insAG	p.D310Rfs*17	Frameshift	1/5	-	1
10-102748895-G-A	c.928G>A	p.D310N	Missense	1/5	-	1
10-102748895-GAT-ATG	c.928_930delinsATG	p.D310M	Missense	1/5	-	1
10-102748898-G-A	c.931G>A	p.D311N	Missense	1/5	-	1
10-102748898-G-T	c.931G>T	p.D311Y	Missense	1/5	-	1
10-102748899-A-C	c.932A>C	p.D311A	Missense	1/5	-	1
10-102748899-A-G	c.932A>G	p.D311G	Missense	1/5	-	1
10-102748902-T-C	c.935T>C	p.L312P	Missense	1/5	-	2
10-102748904-C-T	c.937C>T	p.R313W	Missense	1/5	-	2
10-102748905-G-A	c.938G>A	p.R313Q	Missense	1/5	-	1
10-102748907-T-C	c.940T>C	p.S314P	Missense	1/5	-	1
10-102748911-G-C	c.944G>C	p.W315S	Missense	1/5	-	2
10-102748911-G-T	c.944G>T	p.W315L	Missense	1/5	-	10
10-102748913-G-T	c.946G>T	p.E316*	Nonsense	1/5	-	1
10-102748916-G-A	c.949G>A	p.A317T	Missense	1/5	-	1
10-102748918-C-A	c.951C>A	p.A317=	Synonymous	1/5	-	1
10-102748918-C-G	c.951C>G	p.A317=	Synonymous	1/5	-	1
10-102748918-C-T	c.951C>T	p.A317=	Synonymous	1/5	-	3
10-102748919-G-A	c.952G>A	p.A318T	Missense	1/5	-	14
10-102748919-G-T	c.952G>T	p.A318S	Missense	1/5	-	1
10-102748920-GCCAA-G	c.953_956del	p.A318Gfs*7	Frameshift	1/5	-	1
10-102748922-A-C	c.955A>C	p.K319Q	Missense	1/5	-	2
10-102748922-A-G	c.955A>G	p.K319E	Missense	1/5	-	8
10-102748923-A-C	c.956A>C	p.K319T	Missense	1/5	-	5
10-102748925-T-A	c.958T>A	p.L320M	Missense	1/5	-	1
10-102748925-T-C	c.958T>C	p.L320=	Synonymous	1/5	-	2
10-102748927-G-A	c.960G>A	p.L320=	Synonymous	1/5	-	1
10-102748931-G-T	c.964G>T	p.A322S	Missense	1/5	-	1
10-102748932-C-A	c.965C>A	p.A322E	Missense	1/5	-	1
10-102748934-CGA-TGT	c.967_969delinsTGT	p.R323C	Missense	1/5	-	1
10-102748934-C-T	c.967C>T	p.R323*	Nonsense	1/5	-	1
10-102748935-G-A	c.968G>A	p.R323Q	Missense	1/5	-	5
10-102748937-AAAACTGAAC-A	c.970_978del	p.K324_N326del	InFrameDeletion	1/5	-	1
10-102748938-A-T	c.971A>T	p.K324I	Missense	1/5	-	1
10-102748939-A-C	c.972A>C	p.K324N	Missense	1/5	-	1
10-102748939-A-T	c.972A>T	p.K324N	Missense	1/5	-	1
10-102748940-C-T	c.973C>T	p.L325=	Synonymous	1/5	-	2
10-102748942-G-A	c.975G>A	p.L325=	Synonymous	1/5	-	1
10-102748942-G-C	c.975G>C	p.L325=	Synonymous	1/5	-	1
10-102748942-G-T	c.975G>T	p.L325=	Synonymous	1/5	-	1
10-102748946-C-T	c.979C>T	p.P327S	Missense	1/5	-	3
10-102748952-CGA-TGT	c.985_987delinsTGT	p.R329C	Missense	1/5	-	1
10-102748952-C-T	c.985C>T	p.R329*	Nonsense	1/5	-	2
10-102748956-TG-T	c.989del	p.C330Sfs*17	Frameshift	1/5	-	1
10-102748958-T-C	c.991T>C	p.F331L	Missense	1/5	-	2
10-102748960-C-A	c.993C>A	p.F331L	Missense	1/5	-	2
10-102748959-T-C	c.992T>C	p.F331S	Missense	1/5	-	1
10-102748960-C-G	c.993C>G	p.F331L	Missense	1/5	-	3
10-102748960-C-T	c.993C>T	p.F331=	Synonymous	1/5	-	1
10-102748963-G-T	c.996G>T	p.L332F	Missense	1/5	-	1
10-102748964-G-A	c.997G>A	p.V333M	Missense	1/5	-	1
10-102748964-G-C	c.997G>C	p.V333L	Missense	1/5	-	1
10-102748964-G-T	c.997G>T	p.V333L	Missense	1/5	-	1
10-102748967-C-T	c.1000C>T	p.R334*	Nonsense	1/5	-	3
10-102748968-G-A	c.1001G>A	p.R334Q	Missense	1/5	-	15
10-102748968-G-C	c.1001G>C	p.R334P	Missense	1/5	-	2
10-102748968-G-T	c.1001G>T	p.R334L	Missense	1/5	-	3
10-102748970-C-A	c.1003C>A	p.P335T	Missense	1/5	-	3
10-102748970-C-T	c.1003C>T	p.P335S	Missense	1/5	-	2
10-102748971-C-T	c.1004C>T	p.P335L	Missense	1/5	-	8
10-102748973-G-A	c.1006G>A	p.G336R	Missense	1/5	-	1
10-102748978-C-A	c.1011C>A	p.D337E	Missense	1/5	-	1
10-102748981-G-C	c.1014G>C	p.Q338H	Missense	1/5	-	1
10-102748982-C-A	c.1015C>A	p.Q339K	Missense	1/5	-	1
10-102748982-C-T	c.1015C>T	p.Q339*	Nonsense	1/5	-	1
10-102748986-C-T	c.1019C>T	p.P340L	Missense	1/5	-	1
10-102748988-C-T	c.1021C>T	p.R341C	Missense	1/5	-	3
10-102748989-G-A	c.1022G>A	p.R341H	Missense	1/5	-	3
10-102748989-G-T	c.1022G>T	p.R341L	Missense	1/5	-	3
10-102748989-GT-AA	c.1022_1023delinsAA	p.R341Q	Missense	1/5	-	1
10-102748991-C-T	c.1024C>T	p.P342S	Missense	1/5	-	1
10-102748992-C-T	c.1025C>T	p.P342L	Missense	1/5	-	1
10-102748999-G-A	c.1032G>A	p.E344=	Synonymous	1/5	-	3
10-102749000-G-A	c.1033G>A	p.A345T	Missense	1/5	-	1
10-102749000-G-T	c.1033G>T	p.A345S	Missense	1/5	-	2
10-102749001-C-G	c.1034C>G	p.A345G	Missense	1/5	-	1
10-102749001-C-T	c.1034C>T	p.A345V	Missense	1/5	-	1
10-102749009-G-A	c.1042G>A	p.G348R	Missense	1/5	-	4
10-102749009-G-C	c.1042G>C	p.G348R	Missense	1/5	-	2
10-102749012-G-A	c.1045G>A	p.G349S	Missense	1/5	-	1
10-102749013-G-T	c.1046G>T	p.G349V	Missense	1/5	-	1
10-102749013-G-GC	c.1047dup	p.F350Lfs*78	Frameshift	1/5	-	1
10-102749019-A-G	c.1052A>G	p.N351S	Missense	1/5	-	2
10-102749019-A-AT	c.1053dup	p.L352Sfs*76	Frameshift	1/5	-	1
10-102749027-C-T	c.1060C>T	p.R354C	Missense	1/5	-	10
10-102749028-G-A	c.1061G>A	p.R354H	Missense	1/5	-	2
10-102749028-G-C	c.1061G>C	p.R354P	Missense	1/5	-	9
10-102749028-GT-AA	c.1061_1062delinsAA	p.R354Q	Missense	1/5	-	1
10-102749033-C-A	c.1066C>A	p.L356I	Missense	1/5	-	1
10-102749033-C-G	c.1066C>G	p.L356V	Missense	1/5	-	1
10-102749033-CTT-ATG	c.1066_1068delinsATG	p.L356M	Missense	1/5	-	1
10-102749034-T-C	c.1067T>C	p.L356P	Missense	1/5	-	1
10-102749035-T-C	c.1068T>C	p.L356=	Synonymous	1/5	-	1
10-102749036-CGT-TGG	c.1069_1071delinsTGG	p.R357W	Missense	1/5	-	1
10-102749036-C-T	c.1069C>T	p.R357C	Missense	1/5	-	8
10-102749037-G-A	c.1070G>A	p.R357H	Missense	1/5	-	2
10-102749037-G-C	c.1070G>C	p.R357P	Missense	1/5	-	8
10-102749037-G-T	c.1070G>T	p.R357L	Missense	1/5	-	1
10-102749039-ACC-TAA	c.1072_1074delinsTAA	p.T358*	Nonsense	1/5	-	1
10-102749042-G-A	c.1075G>A	p.A359T	Missense	1/5	-	11
10-102749042-G-T	c.1075G>T	p.A359S	Missense	1/5	-	2
10-102749043-C-T	c.1076C>T	p.A359V	Missense	1/5	-	1
10-102749045-CT-GG	c.1078_1079delinsGG	p.L360G	Missense	1/5	-	1
10-102749047-G-A	c.1080G>A	p.L360=	Synonymous	1/5	-	1
10-102749048-C-T	c.1081C>T	p.P361S	Missense	1/5	-	1
10-102749051-G-A	c.1084G>A	p.A362T	Missense	1/5	-	1
10-102749051-G-C	c.1084G>C	p.A362P	Missense	1/5	-	4
10-102749054-T-A	c.1087T>A	p.W363R	Missense	1/5	-	1
10-102749054-T-C	c.1087T>C	p.W363R	Missense	1/5	-	2
10-102749055-G-T	c.1088G>T	p.W363L	Missense	1/5	-	6
10-102749057-C-T	c.1090C>T	p.H364Y	Missense	1/5	-	3
10-102749058-A-G	c.1091A>G	p.H364R	Missense	1/5	-	1
10-102749060-A-G	c.1093A>G	p.K365E	Missense	1/5	-	2
10-102749061-A-G	c.1094A>G	p.K365R	Missense	1/5	-	2
10-102749062-G-T	c.1095G>T	p.K365N	Missense	1/5	-	1
10-102749063-T-C	c.1096T>C	p.S366P	Missense	1/5	-	1
10-102749063-TC-GG	c.1096_1097delinsGG	p.S366G	Missense	1/5	-	1
10-102749065-C-T	c.1098C>T	p.S366=	Synonymous	1/5	-	2
10-102749066-A-G	c.1099A>G	p.I367V	Missense	1/5	-	1
10-102749067-T-C	c.1100T>C	p.I367T	Missense	1/5	-	7
10-102749068-C-T	c.1101C>T	p.I367=	Synonymous	1/5	-	2
10-102749069-G-A	c.1102G>A	p.V368I	Missense	1/5	-	22
10-102749069-G-T	c.1102G>T	p.V368L	Missense	1/5	-	7
10-102749072-T-C	c.1105T>C	p.S369P	Missense	1/5	-	14
10-102749072-TC-CG	c.1105_1106delinsCG	p.S369R	Missense	1/5	-	1
10-102749073-C-A	c.1106C>A	p.S369Y	Missense	1/5	-	5
10-102749073-C-G	c.1106C>G	p.S369C	Missense	1/5	-	1
10-102749073-C-T	c.1106C>T	p.S369F	Missense	1/5	-	2
10-102749075-T-C	c.1108T>C	p.F370L	Missense	1/5	-	2
10-102749076-T-A	c.1109T>A	p.F370Y	Missense	1/5	-	1
10-102749076-T-G	c.1109T>G	p.F370C	Missense	1/5	-	3
10-102749077-C-A	c.1110C>A	p.F370L	Missense	1/5	-	4
10-102749077-C-G	c.1110C>G	p.F370L	Missense	1/5	-	4
10-102749078-C-G	c.1111C>G	p.R371G	Missense	1/5	-	1
10-102749078-C-T	c.1111C>T	p.R371W	Missense	1/5	-	2
10-102749079-G-A	c.1112G>A	p.R371Q	Missense	1/5	-	3
10-102749082-A-T	c.1115A>T	p.Q372L	Missense	1/5	-	1
10-102749084-C-T	c.1117C>T	p.L373F	Missense	1/5	-	1
10-102749085-T-C	c.1118T>C	p.L373P	Missense	1/5	-	1
10-102749087-C-T	c.1120C>T	p.R374W	Missense	1/5	-	5
10-102749088-G-A	c.1121G>A	p.R374Q	Missense	1/5	-	16
10-102749096-GTG-ATC	c.1129_1131delinsATC	p.V377I	Missense	1/5	-	1
10-102749099-C-T	c.1132C>T	p.L378=	Synonymous	1/5	-	1
10-102749100-T-C	c.1133T>C	p.L378P	Missense	1/5	-	1
10-102749102-G-C	c.1135G>C	p.G379R	Missense	1/5	-	1
10-102749105-G-T	c.1138G>T	p.E380*	Nonsense	1/5	-	1
10-102749106-A-G	c.1139A>G	p.E380G	Missense	1/5	-	1
10-102749108-C-T	c.1141C>T	p.L381=	Synonymous	1/5	-	1
10-102749109-T-C	c.1142T>C	p.L381P	Missense	1/5	-	13
10-102749109-T-G	c.1142T>G	p.L381R	Missense	1/5	-	1
10-102749114-A-G	c.1147A>G	p.N383D	Missense	1/5	-	1
10-102749115-A-T	c.1148A>T	p.N383I	Missense	1/5	-	1
10-102749116-T-A	c.1149T>A	p.N383K	Missense	1/5	-	1
10-102749116-T-G	c.1149T>G	p.N383K	Missense	1/5	-	2
10-102749117-G-A	c.1150G>A	p.V384M	Missense	1/5	-	1
10-102749118-T-C	c.1151T>C	p.V384A	Missense	1/5	-	1
10-102749126-G-A	c.1159G>A	p.A387T	Missense	1/5	-	1
10-102749130-C-T	c.1163C>T	p.A388V	Missense	1/5	-	1
10-102749135-C-T	c.1168C>T	p.L390F	Missense	1/5	-	1
10-102749138-C-T	c.1171C>T	p.R391C	Missense	1/5	-	4
10-102749139-G-A	c.1172G>A	p.R391H	Missense	1/5	-	17
10-102749142-G-A	c.1175G>A	p.W392*	Nonsense	1/5	-	1
10-102749147-C-G	c.1180C>G	p.R394G	Missense	1/5	-	1
10-102749147-C-T	c.1180C>T	p.R394C	Missense	1/5	-	1
10-102749148-G-A	c.1181G>A	p.R394H	Missense	1/5	-	2
10-102749148-G-C	c.1181G>C	p.R394P	Missense	1/5	-	1
10-102749150-T-C	c.1183T>C	p.F395L	Missense	1/5	-	2
10-102749152-T-A	c.1185T>A	p.F395L	Missense	1/5	-	1
10-102749152-T-G	c.1185T>G	p.F395L	Missense	1/5	-	1
10-102749151-T-C	c.1184T>C	p.F395S	Missense	1/5	-	1
10-102749153-C-G	c.1186C>G	p.P396A	Missense	1/5	-	1
10-102749153-C-T	c.1186C>T	p.P396S	Missense	1/5	-	3
10-102749154-C-T	c.1187C>T	p.P396L	Missense	1/5	-	2
10-102749156-G-A	c.1189G>A	p.D397N	Missense	1/5	-	1
10-102749157-A-G	c.1190A>G	p.D397G	Missense	1/5	-	1
10-102749159-C-T	c.1192C>T	p.L398F	Missense	1/5	-	2
10-102749161-C-A	c.1194C>A	p.L398=	Synonymous	1/5	-	1
10-102749161-C-G	c.1194C>G	p.L398=	Synonymous	1/5	-	1
10-102749161-C-T	c.1194C>T	p.L398=	Synonymous	1/5	-	1
10-102749162-A-T	c.1195A>T	p.N399Y	Missense	1/5	-	1
10-102749163-A-G	c.1196A>G	p.N399S	Missense	1/5	-	7
10-102749165-C-A	c.1198C>A	p.R400S	Missense	1/5	-	1
10-102749165-C-T	c.1198C>T	p.R400C	Missense	1/5	-	10
10-102749166-G-A	c.1199G>A	p.R400H	Missense	1/5	-	3
10-102749166-G-T	c.1199G>T	p.R400L	Missense	1/5	-	5
10-102749174-A-G	c.1207A>G	p.K403E	Missense	1/5	-	1
10-102749174-A-T	c.1207A>T	p.K403*	Nonsense	1/5	-	1
10-102749176-G-C	c.1209G>C	p.K403N	Missense	1/5	-	1
10-102749176-G-T	c.1209G>T	p.K403N	Missense	1/5	-	1
10-102749178-G-A	c.1211G>A	p.G404E	Missense	1/5	-	2
10-102749184-G-A	c.1217G>A	p.R406Q	Missense	1/5	-	4
10-102749187-A-C	c.1220A>C	p.K407T	Missense	1/5	-	1
10-102749192-G-A	c.1225G>A	p.E409K	Missense	1/5	-	1
10-102749192-G-C	c.1225G>C	p.E409Q	Missense	1/5	-	1
10-102749192-G-T	c.1225G>T	p.E409*	Nonsense	1/5	-	1
10-102749193-A-G	c.1226A>G	p.E409G	Missense	1/5	-	1
10-102749194-G-T	c.1227G>T	p.E409D	Missense	1/5	-	1
10-102749196-T-G	c.1229T>G	p.L410R	Missense	1/5	-	3
10-102749195-C-T	c.1228C>T	p.L410=	Synonymous	1/5	-	1
10-102749197-G-A	c.1230G>A	p.L410=	Synonymous	1/5	-	1
10-102749197-G-C	c.1230G>C	p.L410=	Synonymous	1/5	-	1
10-102749197-G-T	c.1230G>T	p.L410=	Synonymous	1/5	-	1
10-102749199-C-T	c.1232C>T	p.T411M	Missense	1/5	-	3
10-102749200-G-A	c.1233G>A	p.T411=	Synonymous	1/5	-	1
10-102749200-G-C	c.1233G>C	p.T411=	Synonymous	1/5	-	1
10-102749200-G-T	c.1233G>T	p.T411=	Synonymous	1/5	-	1
10-102749205-T-C	c.1238T>C	p.F413S	Missense	1/5	-	1
10-102749206-C-T	c.1239C>T	p.F413=	Synonymous	1/5	-	1
10-102749207-AC-GG	c.1240_1241delinsGG	p.T414G	Missense	1/5	-	2
10-102749210-G-T	c.1243G>T	p.G415W	Missense	1/5	-	1
10-102749216-C-G	c.1243+6C>G	-	IntronicSNV	-	1/4	1
10-102749401-G-A	c.1244G>A	p.G415E	Missense	2/5	-	1
10-102749401-G-C	c.1244G>C	p.G415A	Missense	2/5	-	1
10-102749401-G-T	c.1244G>T	p.G415V	Missense	2/5	-	1
10-102749402-G-T	c.1245G>T	p.G415=	Synonymous	2/5	-	1
10-102749404-C-T	c.1247C>T	p.P416L	Missense	2/5	-	3
10-102749405-A-G	c.1248A>G	p.P416=	Synonymous	2/5	-	1
10-102749406-A-G	c.1249A>G	p.T417A	Missense	2/5	-	1
10-102749409-G-A	c.1252G>A	p.G418S	Missense	2/5	-	2
10-102749409-G-T	c.1252G>T	p.G418C	Missense	2/5	-	1
10-102749410-G-C	c.1253G>C	p.G418A	Missense	2/5	-	1
10-102749412-A-G	c.1255A>G	p.S419G	Missense	2/5	-	1
10-102749413-G-T	c.1256G>T	p.S419I	Missense	2/5	-	1
10-102749418-AA-GC	c.1261_1262delinsGC	p.K421A	Missense	2/5	-	2
10-102749424-A-T	c.1267A>T	p.T423S	Missense	2/5	-	3
10-102749425-C-T	c.1268C>T	p.T423I	Missense	2/5	-	1
10-102749426-A-G	c.1269A>G	p.T423=	Synonymous	2/5	-	1
10-102749427-T-C	c.1270T>C	p.F424L	Missense	2/5	-	1
10-102749427-TT-GC	c.1270_1271delinsGC	p.F424A	Missense	2/5	-	1
10-102749429-C-A	c.1272C>A	p.F424L	Missense	2/5	-	1
10-102749428-T-G	c.1271T>G	p.F424C	Missense	2/5	-	1
10-102749429-C-G	c.1272C>G	p.F424L	Missense	2/5	-	2
10-102749430-A-C	c.1273A>C	p.I425L	Missense	2/5	-	1
10-102749432-C-G	c.1275C>G	p.I425M	Missense	2/5	-	1
10-102749434-G-A	c.1277G>A	p.S426N	Missense	2/5	-	3
10-102749436-G-A	c.1279G>A	p.E427K	Missense	2/5	-	2
10-102749437-A-C	c.1280A>C	p.E427A	Missense	2/5	-	2
10-102749437-A-G	c.1280A>G	p.E427G	Missense	2/5	-	2
10-102749440-A-G	c.1283A>G	p.Y428C	Missense	2/5	-	1
10-102749441-T-C	c.1284T>C	p.Y428=	Synonymous	2/5	-	1
10-102749443-C-G	c.1286C>G	p.A429G	Missense	2/5	-	1
10-102749446-T-A	c.1289T>A	p.L430Q	Missense	2/5	-	1
10-102749445-C-T	c.1288C>T	p.L430=	Synonymous	2/5	-	1
10-102749447-G-A	c.1290G>A	p.L430=	Synonymous	2/5	-	1
10-102749447-G-C	c.1290G>C	p.L430=	Synonymous	2/5	-	1
10-102749447-G-T	c.1290G>T	p.L430=	Synonymous	2/5	-	1
10-102749454-T-C	c.1297T>C	p.C433R	Missense	2/5	-	2
10-102749458-C-A	c.1301C>A	p.S434Y	Missense	2/5	-	1
10-102749458-C-T	c.1301C>T	p.S434F	Missense	2/5	-	2
10-102749459-C-G	c.1302C>G	p.S434=	Synonymous	2/5	-	1
10-102749460-C-T	c.1303C>T	p.Q435*	Nonsense	2/5	-	1
10-102749463-G-A	c.1306G>A	p.G436R	Missense	2/5	-	3
10-102749463-G-C	c.1306G>C	p.G436R	Missense	2/5	-	3
10-102749464-G-T	c.1307G>T	p.G436V	Missense	2/5	-	1
10-102749470-A-T	c.1313A>T	p.N438I	Missense	2/5	-	1
10-102749471-C-A	c.1314C>A	p.N438K	Missense	2/5	-	3
10-102749471-C-G	c.1314C>G	p.N438K	Missense	2/5	-	3
10-102749475-C-T	c.1318C>T	p.L440=	Synonymous	2/5	-	1
10-102749475-CTG-TTT	c.1318_1320delinsTTT	p.L440F	Missense	2/5	-	1
10-102749476-T-C	c.1319T>C	p.L440P	Missense	2/5	-	1
10-102749478-T-G	c.1321T>G	p.W441G	Missense	2/5	-	12
10-102749481-G-A	c.1324G>A	p.G442S	Missense	2/5	-	1
10-102749482-G-A	c.1325G>A	p.G442D	Missense	2/5	-	1
10-102749482-GT-AG	c.1325_1326delinsAG	p.G442E	Missense	2/5	-	1
10-102749484-A-C	c.1327A>C	p.S443R	Missense	2/5	-	2
10-102749486-C-A	c.1329C>A	p.S443R	Missense	2/5	-	2
10-102749486-C-G	c.1329C>G	p.S443R	Missense	2/5	-	3
10-102749487-T-C	c.1330T>C	p.F444L	Missense	2/5	-	1
10-102749489-C-T	c.1332C>T	p.F444=	Synonymous	2/5	-	2
10-102749495-C-G	c.1338C>G	p.I446M	Missense	2/5	-	1
10-102749497-G-A	c.1340G>A	p.S447N	Missense	2/5	-	1
10-102749499-A-G	c.1342A>G	p.N448D	Missense	2/5	-	3
10-102749500-A-G	c.1343A>G	p.N448S	Missense	2/5	-	1
10-102749501-T-C	c.1344T>C	p.N448=	Synonymous	2/5	-	1
10-102749502-G-A	c.1345G>A	p.V449M	Missense	2/5	-	1
10-102749506-G-A	c.1349G>A	p.R450K	Missense	2/5	-	1
10-102749511-G-A	c.1354G>A	p.A452T	Missense	2/5	-	1
10-102749514-C-T	c.1357C>T	p.R453W	Missense	2/5	-	6
10-102749515-G-A	c.1358G>A	p.R453Q	Missense	2/5	-	6
10-102749515-G-C	c.1358G>C	p.R453P	Missense	2/5	-	2
10-102749515-G-T	c.1358G>T	p.R453L	Missense	2/5	-	1
10-102749516-G-C	c.1359G>C	p.R453=	Synonymous	2/5	-	1
10-102749518-T-G	c.1361T>G	p.V454G	Missense	2/5	-	1
10-102749520-A-G	c.1363A>G	p.M455V	Missense	2/5	-	3
10-102749521-T-C	c.1364T>C	p.M455T	Missense	2/5	-	3
10-102749523-C-G	c.1366C>G	p.L456V	Missense	2/5	-	5
10-102749526-A-C	c.1369A>C	p.T457P	Missense	2/5	-	1
10-102749527-C-T	c.1370C>T	p.T457I	Missense	2/5	-	13
10-102749531-G-C	c.1374G>C	p.Q458H	Missense	2/5	-	3
10-102749531-G-T	c.1374G>T	p.Q458H	Missense	2/5	-	5
10-102749535-G-A	c.1378G>A	p.A460T	Missense	2/5	-	1
10-102749535-G-C	c.1378G>C	p.A460P	Missense	2/5	-	4
10-102749536-C-G	c.1379C>G	p.A460G	Missense	2/5	-	3
10-102749538-G-A	c.1381G>A	p.E461K	Missense	2/5	-	3
10-102749540-G-A	c.1383G>A	p.E461=	Synonymous	2/5	-	1
10-102749541-G-C	c.1384G>C	p.G462R	Missense	2/5	-	1
10-102749544-C-G	c.1387C>G	p.R463G	Missense	2/5	-	1
10-102749544-CGG-TGT	c.1387_1389delinsTGT	p.R463C	Missense	2/5	-	1
10-102749544-C-T	c.1387C>T	p.R463W	Missense	2/5	-	8
10-102749545-G-A	c.1388G>A	p.R463Q	Missense	2/5	-	2
10-102749545-GG-AT	c.1388_1389delinsAT	p.R463H	Missense	2/5	-	2
10-102749548-T-C	c.1391T>C	p.L464P	Missense	2/5	-	2
10-102749550-G-A	c.1393G>A	p.E465K	Missense	2/5	-	1
10-102749550-G-C	c.1393G>C	p.E465Q	Missense	2/5	-	1
10-102749553-G-A	c.1396G>A	p.D466N	Missense	2/5	-	4
10-102749557-A-G	c.1400A>G	p.Q467R	Missense	2/5	-	1
10-102749558-A-G	c.1401A>G	p.Q467=	Synonymous	2/5	-	2
10-102749559-C-A	c.1402C>A	p.L468M	Missense	2/5	-	1
10-102749562-G-C	c.1405G>C	p.D469H	Missense	2/5	-	1
10-102749568-T-G	c.1411T>G	p.Y471D	Missense	2/5	-	1
10-102749569-A-C	c.1412A>C	p.Y471S	Missense	2/5	-	2
10-102749569-A-T	c.1412A>T	p.Y471F	Missense	2/5	-	1
10-102749571-G-A	c.1414G>A	p.D472N	Missense	2/5	-	1
10-102749574-C-T	c.1417C>T	p.H473Y	Missense	2/5	-	3
10-102749578-G-C	c.1421G>C	p.W474S	Missense	2/5	-	3
10-102749579-G-C	c.1422G>C	p.W474C	Missense	2/5	-	5
10-102749579-G-T	c.1422G>T	p.W474C	Missense	2/5	-	5
10-102749580-G-A	c.1423G>A	p.A475T	Missense	2/5	-	5
10-102749580-G-C	c.1423G>C	p.A475P	Missense	2/5	-	8
10-102749581-C-A	c.1424C>A	p.A475D	Missense	2/5	-	3
10-102749581-C-G	c.1424C>G	p.A475G	Missense	2/5	-	1
10-102749583-G-A	c.1426G>A	p.D476N	Missense	2/5	-	1
10-102749586-C-A	c.1429C>A	p.R477S	Missense	2/5	-	1
10-102749586-C-T	c.1429C>T	p.R477C	Missense	2/5	-	1
10-102749587-G-A	c.1430G>A	p.R477H	Missense	2/5	-	1
10-102749587-G-T	c.1430G>T	p.R477L	Missense	2/5	-	1
10-102749589-T-A	c.1432T>A	p.F478I	Missense	2/5	-	3
10-102749590-T-G	c.1433T>G	p.F478C	Missense	2/5	-	3
10-102749592-G-A	c.1435G>A	p.E479K	Missense	2/5	-	5
10-102749592-G-C	c.1435G>C	p.E479Q	Missense	2/5	-	3
10-102749596-A-C	c.1439A>C	p.D480A	Missense	2/5	-	1
10-102749597-C-A	c.1440C>A	p.D480E	Missense	2/5	-	1
10-102749597-C-T	c.1440C>T	p.D480=	Synonymous	2/5	-	2
10-102749598-C-G	c.1441C>G	p.L481V	Missense	2/5	-	2
10-102749598-C-T	c.1441C>T	p.L481=	Synonymous	2/5	-	1
10-102749599-T-C	c.1442T>C	p.L481P	Missense	2/5	-	1
10-102749601-C-A	c.1444C>A	p.P482T	Missense	2/5	-	2
10-102749602-C-A	c.1445C>A	p.P482H	Missense	2/5	-	1
10-102749602-C-T	c.1445C>T	p.P482L	Missense	2/5	-	2
10-102749604-C-T	c.1447C>T	p.L483F	Missense	2/5	-	1
10-102749605-T-A	c.1448T>A	p.L483H	Missense	2/5	-	1
10-102749610-T-C	c.1453T>C	p.F485L	Missense	2/5	-	3
10-102749612-C-G	c.1455C>G	p.F485L	Missense	2/5	-	3
10-102749612-C-A	c.1455C>A	p.F485L	Missense	2/5	-	4
10-102749612-C-T	c.1455C>T	p.F485=	Synonymous	2/5	-	2
10-102749608-ATTTCATGAC-A	c.1456_1464del	p.M486_F488del	InFrameDeletion	2/5	-	1
10-102749613-A-T	c.1456A>T	p.M486L	Missense	2/5	-	1
10-102749615-G-T	c.1458G>T	p.M486I	Missense	2/5	-	1
10-102749617-C-T	c.1460C>T	p.T487I	Missense	2/5	-	4
10-102749619-T-C	c.1462T>C	p.F488L	Missense	2/5	-	2
10-102749621-C-A	c.1464C>A	p.F488L	Missense	2/5	-	1
10-102749621-C-G	c.1464C>G	p.F488L	Missense	2/5	-	1
10-102749620-T-C	c.1463T>C	p.F488S	Missense	2/5	-	1
10-102749623-A-G	c.1466A>G	p.H489R	Missense	2/5	-	2
10-102749625-G-A	c.1468G>A	p.G490R	Missense	2/5	-	2
10-102749625-G-C	c.1468G>C	p.G490R	Missense	2/5	-	2
10-102749626-G-A	c.1469G>A	p.G490E	Missense	2/5	-	2
10-102749628-C-A	c.1471C>A	p.Q491K	Missense	2/5	-	1
10-102749635-G-C	c.1478G>C	p.S493T	Missense	2/5	-	1
10-102749641-G-T	c.1484G>T	p.R495M	Missense	2/5	-	2
10-102749646-G-A	c.1484+5G>A	-	IntronicSNV	-	2/4	1
10-102749659-C-T	c.1484+18C>T	-	IntronicSNV	-	2/4	1
10-102749799-G-A	c.1484+158G>A	-	IntronicSNV	-	2/4	1
10-102749799-G-T	c.1484+158G>T	-	IntronicSNV	-	2/4	1
10-102749848-C-G	c.1484+207C>G	-	IntronicSNV	-	2/4	1
10-102749876-T-C	c.1484+235T>C	-	IntronicSNV	-	2/4	1
10-102750195-C-G	c.1487C>G	p.T496S	Missense	3/5	-	1
10-102750195-C-T	c.1487C>T	p.T496I	Missense	3/5	-	1
10-102750196-T-A	c.1488T>A	p.T496=	Synonymous	3/5	-	1
10-102750196-T-C	c.1488T>C	p.T496=	Synonymous	3/5	-	1
10-102750196-T-G	c.1488T>G	p.T496=	Synonymous	3/5	-	1
10-102750197-G-A	c.1489G>A	p.V497I	Missense	3/5	-	2
10-102750198-T-A	c.1490T>A	p.V497E	Missense	3/5	-	1
10-102750201-T-C	c.1493T>C	p.I498T	Missense	3/5	-	2
10-102750203-G-C	c.1495G>C	p.D499H	Missense	3/5	-	1
10-102750203-G-T	c.1495G>T	p.D499Y	Missense	3/5	-	2
10-102750204-A-G	c.1496A>G	p.D499G	Missense	3/5	-	1
10-102750210-T-C	c.1502T>C	p.M501T	Missense	3/5	-	1
10-102750210-T-G	c.1502T>G	p.M501R	Missense	3/5	-	2
10-102750214-A-G	c.1506A>G	p.Q502=	Synonymous	3/5	-	1
10-102750218-G-A	c.1510G>A	p.A504T	Missense	3/5	-	2
10-102750221-G-A	c.1513G>A	p.V505I	Missense	3/5	-	1
10-102750222-T-C	c.1514T>C	p.V505A	Missense	3/5	-	3
10-102750225-A-G	c.1517A>G	p.Y506C	Missense	3/5	-	2
10-102750226-C-T	c.1518C>T	p.Y506=	Synonymous	3/5	-	1
10-102750227-G-A	c.1519G>A	p.V507I	Missense	3/5	-	14
10-102750229-C-A	c.1521C>A	p.V507=	Synonymous	3/5	-	2
10-102750229-C-G	c.1521C>G	p.V507=	Synonymous	3/5	-	2
10-102750229-C-T	c.1521C>T	p.V507=	Synonymous	3/5	-	2
10-102750231-A-G	c.1523A>G	p.Y508C	Missense	3/5	-	30
10-102750234-A-G	c.1526A>G	p.D509G	Missense	3/5	-	1
10-102750236-A-C	c.1528A>C	p.I510L	Missense	3/5	-	1
10-102750236-A-G	c.1528A>G	p.I510V	Missense	3/5	-	2
10-102750239-T-A	c.1531T>A	p.C511S	Missense	3/5	-	2
10-102750240-G-C	c.1532G>C	p.C511S	Missense	3/5	-	1
10-102750240-G-A	c.1532G>A	p.C511Y	Missense	3/5	-	1
10-102750242-C-G	c.1534C>G	p.H512D	Missense	3/5	-	1
10-102750243-A-C	c.1535A>C	p.H512P	Missense	3/5	-	1
10-102750244-T-C	c.1536T>C	p.H512=	Synonymous	3/5	-	1
10-102750245-G-C	c.1537G>C	p.V513L	Missense	3/5	-	1
10-102750248-A-G	c.1540A>G	p.I514V	Missense	3/5	-	1
10-102750253-C-T	c.1545C>T	p.I515=	Synonymous	3/5	-	1
10-102750254-G-A	c.1546G>A	p.D516N	Missense	3/5	-	4
10-102750263-C-T	c.1555C>T	p.Q519*	Nonsense	3/5	-	1
10-102750267-T-C	c.1559T>C	p.F520S	Missense	3/5	-	1
10-102750268-C-T	c.1560C>T	p.F520=	Synonymous	3/5	-	1
10-102750269-A-T	c.1561A>T	p.M521L	Missense	3/5	-	1
10-102750271-G-A	c.1563G>A	p.M521I	Missense	3/5	-	1
10-102750271-G-C	c.1563G>C	p.M521I	Missense	3/5	-	1
10-102750271-G-T	c.1563G>T	p.M521I	Missense	3/5	-	1
10-102750272-A-G	c.1564A>G	p.M522V	Missense	3/5	-	1
10-102750274-G-A	c.1566G>A	p.M522I	Missense	3/5	-	1
10-102750275-G-C	c.1567G>C	p.G523R	Missense	3/5	-	1
10-102750278-C-T	c.1570C>T	p.H524Y	Missense	3/5	-	1
10-102750280-C-T	c.1572C>T	p.H524=	Synonymous	3/5	-	1
10-102750281-G-A	c.1573G>A	p.E525K	Missense	3/5	-	2
10-102750284-C-T	c.1576C>T	p.Q526*	Nonsense	3/5	-	2
10-102750287-C-T	c.1579C>T	p.L527=	Synonymous	3/5	-	1
10-102750291-C-T	c.1583C>T	p.S528F	Missense	3/5	-	1
10-102750297-A-G	c.1589A>G	p.D530G	Missense	3/5	-	1
10-102750299-AG-CA	c.1591_1592delinsCA	p.R531Q	Missense	3/5	-	1
10-102750300-G-C	c.1592G>C	p.R531T	Missense	3/5	-	1
10-102750614-G-A	c.1593-12G>A	-	IntronicSNV	-	3/4	1
10-102750621-C-G	c.1593-5C>G	-	IntronicSNV	-	3/4	17
10-102750621-C-T	c.1593-5C>T	-	IntronicSNV	-	3/4	17
10-102750623-T-C	c.1593-3T>C	-	IntronicSNV	-	3/4	18
10-102750626-GGATCGC-G	c.1593_1598del	p.I532_A533del	SpliceAcceptorDeletion	4/5	-	1
10-102750629-C-T	c.1596C>T	p.I532=	Synonymous	4/5	-	4
10-102750630-G-A	c.1597G>A	p.A533T	Missense	4/5	-	3
10-102750633-G-T	c.1600G>T	p.A534S	Missense	4/5	-	1
10-102750638-A-G	c.1605A>G	p.Q535=	Synonymous	4/5	-	2
10-102750642-T-C	c.1609T>C	p.Y537H	Missense	4/5	-	4
10-102750643-A-G	c.1610A>G	p.Y537C	Missense	4/5	-	1
10-102750648-A-C	c.1615A>C	p.I539L	Missense	4/5	-	1
10-102750648-A-T	c.1615A>T	p.I539F	Missense	4/5	-	1
10-102750649-T-A	c.1616T>A	p.I539N	Missense	4/5	-	1
10-102750650-C-G	c.1617C>G	p.I539M	Missense	4/5	-	2
10-102750651-G-A	c.1618G>A	p.G540R	Missense	4/5	-	2
10-102750651-G-T	c.1618G>T	p.G540W	Missense	4/5	-	1
10-102750652-G-A	c.1619G>A	p.G540E	Missense	4/5	-	1
10-102750653-G-C	c.1620G>C	p.G540=	Synonymous	4/5	-	1
10-102750655-T-C	c.1622T>C	p.V541A	Missense	4/5	-	1
10-102750656-C-A	c.1623C>A	p.V541=	Synonymous	4/5	-	2
10-102750656-C-G	c.1623C>G	p.V541=	Synonymous	4/5	-	2
10-102750656-C-T	c.1623C>T	p.V541=	Synonymous	4/5	-	2
10-102750660-C-T	c.1627C>T	p.R543W	Missense	4/5	-	3
10-102750661-G-A	c.1628G>A	p.R543Q	Missense	4/5	-	4
10-102750661-G-T	c.1628G>T	p.R543L	Missense	4/5	-	1
10-102750663-A-G	c.1630A>G	p.K544E	Missense	4/5	-	1
10-102750665-G-C	c.1632G>C	p.K544N	Missense	4/5	-	1
10-102750666-TT-GC	c.1633_1634delinsGC	p.F545A	Missense	4/5	-	1
10-102750668-T-A	c.1635T>A	p.F545L	Missense	4/5	-	1
10-102750673-C-T	c.1640C>T	p.T547I	Missense	4/5	-	1
10-102750675-G-A	c.1642G>A	p.D548N	Missense	4/5	-	1
10-102750675-G-T	c.1642G>T	p.D548Y	Missense	4/5	-	3
10-102750678-A-G	c.1645A>G	p.N549D	Missense	4/5	-	1
10-102750679-A-G	c.1646A>G	p.N549S	Missense	4/5	-	2
10-102750681-A-C	c.1648A>C	p.N550H	Missense	4/5	-	3
10-102750682-A-G	c.1649A>G	p.N550S	Missense	4/5	-	2
10-102750683-AC-A	c.1650del	p.C551Afs*3	Frameshift	4/5	-	1
10-102750685-G-A	c.1652G>A	p.C551Y	Missense	4/5	-	1
10-102750686-C-T	c.1653C>T	p.C551=	Synonymous	4/5	-	1
10-102750687-C-A	c.1654C>A	p.H552N	Missense	4/5	-	1
10-102750690-G-C	c.1657G>C	p.V553L	Missense	4/5	-	1
10-102750690-GTG-ATC	c.1657_1659delinsATC	p.V553I	Missense	4/5	-	1
10-102750695-A-T	c.1662A>T	p.T554=	Synonymous	4/5	-	1
10-102750697-T-C	c.1664T>C	p.L555P	Missense	4/5	-	1
10-102750700-T-C	c.1667T>C	p.V556A	Missense	4/5	-	1
10-102750702-A-G	c.1669A>G	p.I557V	Missense	4/5	-	1
10-102750706-AC-A	c.1678del	p.R560Gfs*28	Frameshift	4/5	-	1
10-102750712-G-A	c.1679G>A	p.R560Q	Missense	4/5	-	2
10-102750713-G-A	c.1680G>A	p.R560=	Synonymous	4/5	-	1
10-102750714-A-G	c.1681A>G	p.K561E	Missense	4/5	-	1
10-102750718-A-C	c.1685A>C	p.E562A	Missense	4/5	-	1
10-102750719-G-T	c.1686G>T	p.E562D	Missense	4/5	-	1
10-102750722-T-G	c.1689T>G	p.D563E	Missense	4/5	-	1
10-102750723-G-A	c.1690G>A	p.D564N	Missense	4/5	-	1
10-102750726-G-A	c.1693G>A	p.D565N	Missense	4/5	-	1
10-102750730-A-G	c.1697A>G	p.K566R	Missense	4/5	-	3
10-102750733-A-C	c.1700A>C	p.E567A	Missense	4/5	-	1
10-102750735-C-A	c.1702C>A	p.L568M	Missense	4/5	-	1
10-102750737-G-T	c.1704G>T	p.L568=	Synonymous	4/5	-	1
10-102750738-C-G	c.1705C>G	p.Q569E	Missense	4/5	-	1
10-102750741-A-G	c.1708A>G	p.T570A	Missense	4/5	-	3
10-102750745-C-T	c.1712C>T	p.A571V	Missense	4/5	-	1
10-102750746-G-C	c.1713G>C	p.A571=	Synonymous	4/5	-	1
10-102750748-C-A	c.1715C>A	p.S572Y	Missense	4/5	-	1
10-102750748-C-T	c.1715C>T	p.S572F	Missense	4/5	-	1
10-102750754-T-C	c.1721T>C	p.F574S	Missense	4/5	-	2
10-102750750-AT-A	c.1722del	p.F574Lfs*14	Frameshift	4/5	-	1
10-102750757-G-A	c.1724G>A	p.G575D	Missense	4/5	-	3
10-102750757-G-C	c.1724G>C	p.G575A	Missense	4/5	-	1
10-102750760-C-A	c.1727C>A	p.S576*	Nonsense	4/5	-	1
10-102750760-C-G	c.1727C>G	p.S576*	Nonsense	4/5	-	1
10-102750763-C-A	c.1730C>A	p.A577D	Missense	4/5	-	1
10-102750773-GTGGC-G	c.1734+6_1734+9del	-	IntronicDeletion	-	4/4	1
10-102750783-C-A	c.1734+16C>A	-	IntronicSNV	-	4/4	18
10-102750783-C-T	c.1734+16C>T	-	IntronicSNV	-	4/4	15
10-102750851-G-A	c.1734+84G>A	-	IntronicSNV	-	4/4	11
10-102751706-G-A	c.1734+939G>A	-	IntronicSNV	-	4/4	1
10-102752033-C-G	c.1735-914C>G	-	IntronicSNV	-	4/4	1
10-102752033-C-T	c.1735-914C>T	-	IntronicSNV	-	4/4	1
10-102752162-C-T	c.1735-785C>T	-	IntronicSNV	-	4/4	1
10-102752345-T-G	c.1735-602T>G	-	IntronicSNV	-	4/4	2
10-102752745-G-A	c.1735-202G>A	-	IntronicSNV	-	4/4	3
10-102752794-C-T	c.1735-153C>T	-	IntronicSNV	-	4/4	1
10-102752947-G-A	c.1735G>A	p.A579T	Missense	5/5	-	1
10-102752948-C-T	c.1736C>T	p.A579V	Missense	5/5	-	1
10-102752951-G-C	c.1739G>C	p.S580T	Missense	5/5	-	1
10-102752952-C-T	c.1740C>T	p.S580=	Synonymous	5/5	-	1
10-102752957-A-G	c.1745A>G	p.E582G	Missense	5/5	-	1
10-102752958-A-C	c.1746A>C	p.E582D	Missense	5/5	-	1
10-102752960-C-G	c.1748C>G	p.A583G	Missense	5/5	-	1
10-102752960-C-T	c.1748C>T	p.A583V	Missense	5/5	-	2
10-102752962-G-T	c.1750G>T	p.D584Y	Missense	5/5	-	1
10-102752964-C-A	c.1752C>A	p.D584E	Missense	5/5	-	1
10-102752966-A-G	c.1754A>G	p.N585S	Missense	5/5	-	14
10-102752968-G-A	c.1756G>A	p.V586I	Missense	5/5	-	2
10-102752974-A-T	c.1762A>T	p.I588F	Missense	5/5	-	1
10-102752983-G-A	c.1771G>A	p.D591N	Missense	5/5	-	1
10-102752987-G-A	c.1775G>A	p.R592K	Missense	5/5	-	1
10-102752987-G-T	c.1775G>T	p.R592M	Missense	5/5	-	1
10-102753001-G-A	c.1789G>A	p.G597R	Missense	5/5	-	1
10-102753001-G-C	c.1789G>C	p.G597R	Missense	5/5	-	1
10-102753005-C-G	c.1793C>G	p.P598R	Missense	5/5	-	1
10-102753005-C-T	c.1793C>T	p.P598L	Missense	5/5	-	1
10-102753009-G-T	c.1797G>T	p.G599=	Synonymous	5/5	-	1
10-102753014-G-A	c.1802G>A	p.R601Q	Missense	5/5	-	6
10-102753024-G-T	c.1812G>T	p.Q604H	Missense	5/5	-	1
10-102753029-C-G	c.1817C>G	p.S606C	Missense	5/5	-	1
10-102753031-A-G	c.1819A>G	p.K607E	Missense	5/5	-	1
10-102753033-G-A	c.1821G>A	p.K607=	Synonymous	5/5	-	1
10-102753033-G-C	c.1821G>C	p.K607N	Missense	5/5	-	2
10-102753033-G-T	c.1821G>T	p.K607N	Missense	5/5	-	2
10-102753036-C-A	c.1824C>A	p.N608K	Missense	5/5	-	1
10-102753038-G-C	c.1826G>C	p.R609P	Missense	5/5	-	2
10-102753038-G-T	c.1826G>T	p.R609L	Missense	5/5	-	1
10-102753041-T-C	c.1829T>C	p.F610S	Missense	5/5	-	1
10-102753043-G-T	c.1831G>T	p.D611Y	Missense	5/5	-	2
10-102753049-G-A	c.1837G>A	p.D613N	Missense	5/5	-	1
10-102753049-G-C	c.1837G>C	p.D613H	Missense	5/5	-	1
10-102753050-A-G	c.1838A>G	p.D613G	Missense	5/5	-	2
10-102753052-G-A	c.1840G>A	p.V614I	Missense	5/5	-	1
10-102753055-G-A	c.1843G>A	p.G615S	Missense	5/5	-	3
10-102753056-G-C	c.1844G>C	p.G615A	Missense	5/5	-	5
10-102753064-C-G	c.1852C>G	p.P618A	Missense	5/5	-	1
10-102753064-C-T	c.1852C>T	p.P618S	Missense	5/5	-	5
10-102753065-C-T	c.1853C>T	p.P618L	Missense	5/5	-	2
10-102753070-G-A	c.1858G>A	p.E620K	Missense	5/5	-	1
10-102753070-G-C	c.1858G>C	p.E620Q	Missense	5/5	-	7
10-102753080-A-G	c.1868A>G	p.K623R	Missense	5/5	-	3
10-102753091-A-G	c.1879A>G	p.T627A	Missense	5/5	-	1
10-102753094-T-G	c.1882T>G	p.F628V	Missense	5/5	-	1
10-102753092-CCTT-C	c.1883_1885del	p.F628del	InFrameDeletion	5/5	-	1
10-102753098-C-T	c.1886C>T	p.S629F	Missense	5/5	-	4
10-102753101-T-C	c.1889T>C	p.I630T	Missense	5/5	-	1
10-102753110-A-G	c.1898A>G	p.K633R	Missense	5/5	-	1
10-102753114-C-A	c.1902C>A	p.N634K	Missense	5/5	-	1
10-102753114-C-G	c.1902C>G	p.N634K	Missense	5/5	-	2
10-102753115-A-G	c.1903A>G	p.K635E	Missense	5/5	-	1
10-102753116-A-G	c.1904A>G	p.K635R	Missense	5/5	-	1
10-102753118-G-A	c.1906G>A	p.A636T	Missense	5/5	-	2
10-102753118-G-T	c.1906G>T	p.A636S	Missense	5/5	-	1
10-102753119-C-T	c.1907C>T	p.A636V	Missense	5/5	-	1
10-102753121-C-A	c.1909C>A	p.R637=	Synonymous	5/5	-	1
10-102753121-C-T	c.1909C>T	p.R637W	Missense	5/5	-	1
10-102753123-G-A	c.1911G>A	p.R637=	Synonymous	5/5	-	1
10-102753123-G-C	c.1911G>C	p.R637=	Synonymous	5/5	-	1
10-102753122-G-A	c.1910G>A	p.R637Q	Missense	5/5	-	1
10-102753122-G-T	c.1910G>T	p.R637L	Missense	5/5	-	1
10-102753123-G-T	c.1911G>T	p.R637=	Synonymous	5/5	-	2
10-102753124-C-G	c.1912C>G	p.L638V	Missense	5/5	-	1
10-102753125-T-C	c.1913T>C	p.L638P	Missense	5/5	-	1
10-102753131-A-C	c.1919A>C	p.K640T	Missense	5/5	-	1
10-102753132-G-A	c.1920G>A	p.K640=	Synonymous	5/5	-	2
10-102753132-G-C	c.1920G>C	p.K640N	Missense	5/5	-	4
10-102753132-G-T	c.1920G>T	p.K640N	Missense	5/5	-	3
10-102753137-A-G	c.1925A>G	p.K642R	Missense	5/5	-	2
10-102753142-G-A	c.1930G>A	p.D644N	Missense	5/5	-	1
10-102753147-T-A	c.1935T>A	p.T645=	Synonymous	5/5	-	1
10-102753147-T-C	c.1935T>C	p.T645=	Synonymous	5/5	-	2
10-102753147-T-G	c.1935T>G	p.T645=	Synonymous	5/5	-	1
10-102753151-C-T	c.1939C>T	p.P647S	Missense	5/5	-	1
10-102753154-G-C	c.1942G>C	p.V648L	Missense	5/5	-	1
10-102753160-A-C	c.1948A>C	p.K650Q	Missense	5/5	-	1
10-102753164-A-G	c.1952A>G	p.K651R	Missense	5/5	-	1
10-102753166-C-T	c.1954C>T	p.P652S	Missense	5/5	-	5
10-102753170-C-T	c.1958C>T	p.S653F	Missense	5/5	-	1
10-102753174-T-C	c.1962T>C	p.S654=	Synonymous	5/5	-	1
10-102753175-G-A	c.1963G>A	p.G655S	Missense	5/5	-	1
10-102753175-G-C	c.1963G>C	p.G655R	Missense	5/5	-	1
10-102753176-G-A	c.1964G>A	p.G655D	Missense	5/5	-	1
10-102753176-G-C	c.1964G>C	p.G655A	Missense	5/5	-	1
10-102753176-G-T	c.1964G>T	p.G655V	Missense	5/5	-	1
10-102753177-C-T	c.1965C>T	p.G655=	Synonymous	5/5	-	1
10-102753178-A-C	c.1966A>C	p.K656Q	Missense	5/5	-	1
10-102753180-A-C	c.1968A>C	p.K656N	Missense	5/5	-	1
10-102753180-A-T	c.1968A>T	p.K656N	Missense	5/5	-	1
10-102753182-A-G	c.1970A>G	p.K657R	Missense	5/5	-	1
10-102753187-G-A	c.1975G>A	p.A659T	Missense	5/5	-	2
10-102753188-C-G	c.1976C>G	p.A659G	Missense	5/5	-	1
10-102753191-C-T	c.1979C>T	p.T660M	Missense	5/5	-	3
10-102753193-A-G	c.1981A>G	p.T661A	Missense	5/5	-	1
10-102753194-C-A	c.1982C>A	p.T661K	Missense	5/5	-	1
10-102753194-C-T	c.1982C>T	p.T661I	Missense	5/5	-	1
10-102753196-C-G	c.1984C>G	p.Q662E	Missense	5/5	-	1
10-102753198-G-A	c.1986G>A	p.Q662=	Synonymous	5/5	-	3
10-102753198-G-C	c.1986G>C	p.Q662H	Missense	5/5	-	1
10-102753199-A-G	c.1987A>G	p.N663D	Missense	5/5	-	1
10-102753200-A-T	c.1988A>T	p.N663I	Missense	5/5	-	1
10-102753203-C-A	c.1991C>A	p.S664Y	Missense	5/5	-	1
10-102753203-C-CT	c.1992dup	p.E665*	Nonsense	5/5	-	1
10-102753205-G-A	c.1993G>A	p.E665K	Missense	5/5	-	1
10-102753211-T-G	c.1999T>G	p.C667G	Missense	5/5	-	1
10-102753212-G-A	c.2000G>A	p.C667Y	Missense	5/5	-	1
10-102753214-T-C	c.2002T>C	p.S668P	Missense	5/5	-	2
10-102753215-C-T	c.2003C>T	p.S668L	Missense	5/5	-	1
10-102753217-G-A	c.2005G>A	p.G669S	Missense	5/5	-	2
10-102753220-C-G	c.2008C>G	p.Q670E	Missense	5/5	-	1
10-102753222-G-C	c.2010G>C	p.Q670H	Missense	5/5	-	8
10-102753222-G-T	c.2010G>T	p.Q670H	Missense	5/5	-	4
10-102753223-G-A	c.2011G>A	p.A671T	Missense	5/5	-	1
10-102753223-G-C	c.2011G>C	p.A671P	Missense	5/5	-	1
10-102753224-C-A	c.2012C>A	p.A671D	Missense	5/5	-	1
10-102753224-C-G	c.2012C>G	p.A671G	Missense	5/5	-	1
10-102753226-C-T	c.2014C>T	p.P672S	Missense	5/5	-	3
10-102753227-C-G	c.2015C>G	p.P672R	Missense	5/5	-	3
10-102753223-G-GC	c.2016dup	p.T673Hfs*23	Frameshift	5/5	-	2
10-102753229-A-C	c.2017A>C	p.T673P	Missense	5/5	-	1
10-102753230-C-T	c.2018C>T	p.T673I	Missense	5/5	-	1
10-102753231-T-A	c.2019T>A	p.T673=	Synonymous	5/5	-	1
10-102753231-T-C	c.2019T>C	p.T673=	Synonymous	5/5	-	1
10-102753231-T-G	c.2019T>G	p.T673=	Synonymous	5/5	-	1
10-102753232-C-T	c.2020C>T	p.P674S	Missense	5/5	-	2
10-102753233-C-T	c.2021C>T	p.P674L	Missense	5/5	-	2
10-102753234-C-A	c.2022C>A	p.P674=	Synonymous	5/5	-	1
10-102753234-C-G	c.2022C>G	p.P674=	Synonymous	5/5	-	1
10-102753234-C-T	c.2022C>T	p.P674=	Synonymous	5/5	-	2
10-102753235-G-A	c.2023G>A	p.D675N	Missense	5/5	-	2
10-102753235-GA-AC	c.2023_2024delinsAC	p.D675T	Missense	5/5	-	1
10-102753235-G-C	c.2023G>C	p.D675H	Missense	5/5	-	1
10-102753235-G-T	c.2023G>T	p.D675Y	Missense	5/5	-	1
10-102753236-A-G	c.2024A>G	p.D675G	Missense	5/5	-	1
10-102753238-C-G	c.2026C>G	p.Q676E	Missense	5/5	-	1
10-102753240-GC-G	c.2030del	p.P677Qfs*23	Frameshift	5/5	-	1
10-102753251-C-G	c.2039C>G	p.S680C	Missense	5/5	-	1
10-102753253-A-G	c.2041A>G	p.K681E	Missense	5/5	-	1
10-102753257-G-A	c.2045G>A	p.R682H	Missense	5/5	-	7
10-102753257-G-C	c.2045G>C	p.R682P	Missense	5/5	-	2
10-102753257-G-T	c.2045G>T	p.R682L	Missense	5/5	-	2
10-102753260-C-A	c.2048C>A	p.S683*	Nonsense	5/5	-	1
10-102753262-A-C	c.2050A>C	p.K684Q	Missense	5/5	-	4
10-102753273-G-A	c.*6G>A	-	3-UTRSNV	5/5	-	1
10-102753273-G-T	c.*6G>T	-	3-UTRSNV	5/5	-	1
10-102753471-G-A	c.*204G>A	-	3-UTRSNV	5/5	-	1
10-102753788-C-G	c.*521C>G	-	3-UTRSNV	5/5	-	2
10-102754033-A-T	c.*766A>T	-	3-UTRSNV	5/5	-	8