PTEN phosphatase and tensin homolog

Annotation transcript: NM_000314.8

2333 unique variant annotations were identified in 2622 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
10-89623618-C-T c.-609C>T - 5-UTRSNV 1/9 - 1
10-89623631-T-C c.-596T>C - 5-UTRSNV 1/9 - 1
10-89623672-C-T c.-555C>T - 5-UTRSNV 1/9 - 1
10-89623716-G-C c.-511G>C - 5-UTRSNV 1/9 - 8
10-89623716-G-A c.-511G>A - 5-UTRSNV 1/9 - 8
10-89623760-A-C c.-467A>C - 5-UTRSNV 1/9 - 1
10-89623897-C-G c.-330C>G - 5-UTRSNV 1/9 - 1
10-89623901-G-C c.-326G>C - 5-UTRSNV 1/9 - 4
10-89624116-G-A c.-111G>A - 5-UTRSNV 1/9 - 1
10-89624116-G-T c.-111G>T - 5-UTRSNV 1/9 - 1
10-89624218-C-G c.-9C>G - 5-UTRSNV 1/9 - 8
10-89624227-CAT-C c.1_2del p.M1? CdsStartDeletion 1/9 - 1
10-89624227-CATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGG-C c.3_61del p.M1_?21 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 1/9 - 2
10-89624228-T-C c.2T>C p.M1? Missense 1/9 - 1
10-89624228-T-A c.2T>A p.M1? Missense 1/9 - 1
10-89624229-G-A c.3G>A p.M1? Missense 1/9 - 3
10-89624229-G-C c.3G>C p.M1? Missense 1/9 - 2
10-89624229-G-T c.3G>T p.M1? Missense 1/9 - 3
10-89624232-A-G c.6A>G p.T2= Synonymous 1/9 - 5
10-89624232-A-T c.6A>T p.T2= Synonymous 1/9 - 4
10-89624232-A-C c.6A>C p.T2= Synonymous 1/9 - 4
10-89624233-G-A c.7G>A p.A3T Missense 1/9 - 1
10-89624234-C-T c.8C>T p.A3V Missense 1/9 - 3
10-89624235-C-A c.9C>A p.A3= Synonymous 1/9 - 1
10-89624235-C-G c.9C>G p.A3= Synonymous 1/9 - 2
10-89624235-C-T c.9C>T p.A3= Synonymous 1/9 - 1
10-89624238-C-T c.12C>T p.I4= Synonymous 1/9 - 1
10-89624239-A-G c.13A>G p.I5V Missense 1/9 - 1
10-89624241-C-CT c.15_16insT p.K6* Nonsense 1/9 - 2
10-89624242-A-T c.16A>T p.K6* Nonsense 1/9 - 2
10-89624242-A-G c.16A>G p.K6E Missense 1/9 - 5
10-89624243-A-AGCG c.17_18insGCG p.K6_E7insR InFrameInsertion 1/9 - 1
10-89624241-CAA-C c.17_18del p.K6Rfs*4 Frameshift 1/9 - 7
10-89624241-CAAAG-C c.17_20del p.K6Rfs*17 Frameshift 1/9 - 1
10-89624243-A-C c.17A>C p.K6T Missense 1/9 - 1
10-89624243-A-T c.17A>T p.K6I Missense 1/9 - 2
10-89624241-CAAAGAG-C c.17_22del p.K6_E7del InFrameDeletion 1/9 - 1
10-89624244-A-G c.18A>G p.K6= Synonymous 1/9 - 3
10-89624244-A-T c.18A>T p.K6N Missense 1/9 - 1
10-89624245-G-T c.19G>T p.E7* Nonsense 1/9 - 10
10-89624245-AGAG-A c.19_21del p.E7del InFrameDeletion 1/9 - 2
10-89624245-AG-A c.19del p.E7Rfs*17 Frameshift 1/9 - 2
10-89624246-A-G c.20A>G p.E7G Missense 1/9 - 1
10-89624243-AAG-A c.21_22del p.E7Dfs*3 Frameshift 1/9 - 1
10-89624251-G-C c.25G>C p.V9L Missense 1/9 - 1
10-89624251-CGTT-C c.25_27del p.V9del InFrameDeletion 1/9 - 1
10-89624251-G-T c.25G>T p.V9F Missense 1/9 - 1
10-89624251-G-A c.25G>A p.V9I Missense 1/9 - 1
10-89624252-T-A c.26T>A p.V9D Missense 1/9 - 1
10-89624251-GT-G c.27del p.S10Afs*14 Frameshift 1/9 - 2
10-89624254-AG-GC c.28_29delinsGC p.S10A Missense 1/9 - 175
10-89624254-AG-GA c.28_29delinsGA p.S10D Missense 1/9 - 37
10-89624254-AGC-GAG c.28_30delinsGAG p.S10E Missense 1/9 - 27
10-89624254-A-T c.28A>T p.S10C Missense 1/9 - 71
10-89624254-AG-CT c.28_29inv p.S10L Missense 1/9 - 1
10-89624254-AG-TT c.28_29delinsTT p.S10F Missense 1/9 - 10
10-89624254-A-G c.28A>G p.S10G Missense 1/9 - 3
10-89624254-AG-CA c.28_29delinsCA p.S10H Missense 1/9 - 3
10-89624254-AG-CC c.28_29delinsCC p.S10P Missense 1/9 - 2
10-89624255-GC-AG c.29_30delinsAG p.S10K Missense 1/9 - 2
10-89624255-GC-TG c.29_30delinsTG p.S10M Missense 1/9 - 1
10-89624255-G-T c.29G>T p.S10I Missense 1/9 - 8
10-89624255-G-A c.29G>A p.S10N Missense 1/9 - 11
10-89624253-TAGC-T c.30_32del p.S10del InFrameDeletion 1/9 - 3
10-89624256-C-G c.30C>G p.S10R Missense 1/9 - 1
10-89624256-C-A c.30C>A p.S10R Missense 1/9 - 1
10-89624254-A-C c.28A>C p.S10R Missense 1/9 - 1
10-89624257-A-G c.31A>G p.R11G Missense 1/9 - 1
10-89624257-AG-GC c.31_32delinsGC p.R11A Missense 1/9 - 4
10-89624257-A-T c.31A>T p.R11* Nonsense 1/9 - 2
10-89624257-AG-GA c.31_32delinsGA p.R11E Missense 1/9 - 1
10-89624258-G-A c.32G>A p.R11K Missense 1/9 - 4
10-89624258-G-T c.32G>T p.R11I Missense 1/9 - 2
10-89624259-A-AT c.33_34insT p.N12* Nonsense 1/9 - 1
10-89624260-A-C c.34A>C p.N12H Missense 1/9 - 1
10-89624261-A-C c.35A>C p.N12T Missense 1/9 - 2
10-89624263-A-G c.37A>G p.K13E Missense 1/9 - 24
10-89624263-AAA-TAT c.37_39delinsTAT p.K13Y Missense 1/9 - 1
10-89624261-ACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCTGTAT-A c.37_79+5del - SpliceDonorDeletion 1/9 1/8 1
10-89624263-AA-GC c.37_38delinsGC p.K13A Missense 1/9 - 12
10-89624263-A-C c.37A>C p.K13Q Missense 1/9 - 1
10-89624263-A-T c.37A>T p.K13* Nonsense 1/9 - 1
10-89624263-AAA-TTT c.37_39inv p.K13F Missense 1/9 - 1
10-89624264-A-G c.38A>G p.K13R Missense 1/9 - 14
10-89624264-A-C c.38A>C p.K13T Missense 1/9 - 1
10-89624261-ACAAAAGGAGATAT-A c.39_51del p.R15Mfs*5 Frameshift 1/9 - 1
10-89624265-A-AT c.39_40insT p.R14* Nonsense 1/9 - 1
10-89624262-CAA-C c.39_40del p.R14Efs*29 Frameshift 1/9 - 1
10-89624265-A-G c.39A>G p.K13= Synonymous 1/9 - 1
10-89624263-AAAAGG-A c.39_43del p.R14Ifs*28 Frameshift 1/9 - 1
10-89624266-A-G c.40A>G p.R14G Missense 1/9 - 4
10-89624262-C-CA c.40dup p.R14Kfs*30 Frameshift 1/9 - 2
10-89624266-AGG-TTT c.40_42delinsTTT p.R14F Missense 1/9 - 1
10-89624266-AG-GC c.40_41delinsGC p.R14A Missense 1/9 - 9
10-89624267-G-T c.41G>T p.R14M Missense 1/9 - 2
10-89624265-AAGGAGAT-A c.41_47del p.R14Ifs*8 Frameshift 1/9 - 1
10-89624268-G-A c.42G>A p.R14= Synonymous 1/9 - 1
10-89624266-A-C c.40A>C p.R14= Synonymous 1/9 - 1
10-89624265-AAGG-A c.42_44del p.R15del InFrameDeletion 1/9 - 2
10-89624268-G-C c.42G>C p.R14S Missense 1/9 - 3
10-89624268-G-T c.42G>T p.R14S Missense 1/9 - 3
10-89624269-A-T c.43A>T p.R15* Nonsense 1/9 - 2
10-89624269-A-G c.43A>G p.R15G Missense 1/9 - 2
10-89624269-AG-GC c.43_44delinsGC p.R15A Missense 1/9 - 10
10-89624269-AG-CA c.43_44delinsCA p.R15Q Missense 1/9 - 1
10-89624269-GAGA-G c.43_45del p.R15del InFrameDeletion 1/9 - 3
10-89624269-GA-G c.43del p.R15Dfs*9 Frameshift 1/9 - 2
10-89624270-G-C c.44G>C p.R15T Missense 1/9 - 2
10-89624270-AGATATCAAGAGGATGGATTCGACTTAGACTTGACCTGTATCCATTTCTGCGGCTGCTCC-A c.44_79+23del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/9 1/8 1
10-89624270-G-A c.44G>A p.R15K Missense 1/9 - 7
10-89624268-GAGAT-G c.44_47del p.R15Ifs*8 Frameshift 1/9 - 1
10-89624270-G-T c.44G>T p.R15I Missense 1/9 - 2
10-89624271-A-C c.45A>C p.R15S Missense 1/9 - 10
10-89624271-A-T c.45A>T p.R15S Missense 1/9 - 13
10-89624271-GATA-G c.45_47del p.R15_Y16delinsS MultiAAMissense 1/9 - 1
10-89624272-T-C c.46T>C p.Y16H Missense 1/9 - 2
10-89624272-TA-GG c.46_47delinsGG p.Y16G Missense 1/9 - 1
10-89624272-TA-GC c.46_47delinsGC p.Y16A Missense 1/9 - 2
10-89624271-A-AT c.46dup p.Y16Lfs*28 Frameshift 1/9 - 2
10-89624273-A-C c.47A>C p.Y16S Missense 1/9 - 1
10-89624273-A-G c.47A>G p.Y16C Missense 1/9 - 4
10-89624274-T-A c.48T>A p.Y16* Nonsense 1/9 - 13
10-89624274-T-G c.48T>G p.Y16* Nonsense 1/9 - 17
10-89624275-C-T c.49C>T p.Q17* Nonsense 1/9 - 15
10-89624275-CA-GC c.49_50delinsGC p.Q17A Missense 1/9 - 2
10-89624275-C-G c.49C>G p.Q17E Missense 1/9 - 6
10-89624276-A-T c.50A>T p.Q17L Missense 1/9 - 1
10-89624276-A-C c.50A>C p.Q17P Missense 1/9 - 1
10-89624276-CAA-C c.50_51del p.Q17Rfs*26 Frameshift 1/9 - 2
10-89624276-A-G c.50A>G p.Q17R Missense 1/9 - 3
10-89624277-A-AT c.51_52insT p.E18* Nonsense 1/9 - 1
10-89624275-CA-C c.51del p.E18Rfs*6 Frameshift 1/9 - 1
10-89624278-G-T c.52G>T p.E18* Nonsense 1/9 - 3
10-89624278-GAG-TGT c.52_54delinsTGT p.E18C Missense 1/9 - 2
10-89624279-A-AAT c.53_54insAT p.D19Wfs*6 Frameshift 1/9 - 1
10-89624279-A-G c.53A>G p.E18G Missense 1/9 - 1
10-89624277-AGAG-A c.54_56del p.E18del InFrameDeletion 1/9 - 1
10-89624281-G-A c.55G>A p.D19N Missense 1/9 - 2
10-89624279-AG-A c.55del p.D19Mfs*5 Frameshift 1/9 - 1
10-89624281-G-T c.55G>T p.D19Y Missense 1/9 - 1
10-89624282-A-T c.56A>T p.D19V Missense 1/9 - 1
10-89624282-A-G c.56A>G p.D19G Missense 1/9 - 1
10-89624283-ATGG-A c.57_59del p.D19_G20delinsE MultiAAMissense 1/9 - 1
10-89624283-T-G c.57T>G p.D19E Missense 1/9 - 1
10-89624283-T-A c.57T>A p.D19E Missense 1/9 - 1
10-89624279-AGGAT-A c.58_61del p.G20Sfs*3 Frameshift 1/9 - 1
10-89624284-G-T c.58G>T p.G20* Nonsense 1/9 - 1
10-89624284-G-A c.58G>A p.G20R Missense 1/9 - 1
10-89624284-G-C c.58G>C p.G20R Missense 1/9 - 1
10-89624282-ATGGATTCGACTTAGACTTGACCTGTATCCATT-A c.58_79+10del - SpliceDonorDeletion 1/9 1/8 1
10-89624285-G-A c.59G>A p.G20E Missense 1/9 - 9
10-89624285-G-T c.59G>T p.G20V Missense 1/9 - 4
10-89624287-TT-GC c.61_62delinsGC p.F21A Missense 1/9 - 7
10-89624287-T-C c.61T>C p.F21L Missense 1/9 - 1
10-89624289-C-A c.63C>A p.F21L Missense 1/9 - 1
10-89624289-C-G c.63C>G p.F21L Missense 1/9 - 1
10-89624288-T-C c.62T>C p.F21S Missense 1/9 - 1
10-89624289-C-CA c.63_64insA p.D22Rfs*22 Frameshift 1/9 - 1
10-89624290-GA-TG c.64_65delinsTG p.D22C Missense 1/9 - 1
10-89624290-CGACTTAG-C c.64_70del p.D22Tfs*2 Frameshift 1/9 - 1
10-89624290-G-C c.64G>C p.D22H Missense 1/9 - 1
10-89624291-A-G c.65A>G p.D22G Missense 1/9 - 4
10-89624291-A-C c.65A>C p.D22A Missense 1/9 - 2
10-89624292-C-G c.66C>G p.D22E Missense 1/9 - 6
10-89624292-C-A c.66C>A p.D22E Missense 1/9 - 2
10-89624293-TT-CC c.67_68delinsCC p.L23P Missense 1/9 - 2
10-89624293-TT-GC c.67_68delinsGC p.L23A Missense 1/9 - 4
10-89624294-T-G c.68T>G p.L23* Nonsense 1/9 - 4
10-89624294-T-A c.68T>A p.L23* Nonsense 1/9 - 3
10-89624292-CT-C c.68del p.L23* Frameshift 1/9 - 1
10-89624294-T-TG c.68_69insG p.D24Rfs*20 Frameshift 1/9 - 2
10-89624295-A-T c.69A>T p.L23F Missense 1/9 - 3
10-89624295-A-C c.69A>C p.L23F Missense 1/9 - 6
10-89624294-T-TA c.69dup p.D24Rfs*20 Frameshift 1/9 - 3
10-89624296-G-A c.70G>A p.D24N Missense 1/9 - 9
10-89624296-G-T c.70G>T p.D24Y Missense 1/9 - 11
10-89624296-G-C c.70G>C p.D24H Missense 1/9 - 12
10-89624297-A-G c.71A>G p.D24G Missense 1/9 - 19
10-89624297-A-T c.71A>T p.D24V Missense 1/9 - 5
10-89624297-A-C c.71A>C p.D24A Missense 1/9 - 2
10-89624298-C-G c.72C>G p.D24E Missense 1/9 - 2
10-89624298-C-A c.72C>A p.D24E Missense 1/9 - 2
10-89624298-C-T c.72C>T p.D24= Synonymous 1/9 - 1
10-89624298-C-CAGA c.72_73insAGA p.D24_L25insR InFrameInsertion 1/9 - 1
10-89624299-T-G c.73T>G p.L25V Missense 1/9 - 2
10-89624299-TT-GC c.73_74delinsGC p.L25A Missense 1/9 - 3
10-89624299-CTT-C c.73_74del p.L25Dfs*18 Frameshift 1/9 - 1
10-89624300-T-C c.74T>C p.L25S Missense 1/9 - 1
10-89624300-T-G c.74T>G p.L25W Missense 1/9 - 1
10-89624298-C-CT c.74dup p.L25Ffs*19 Frameshift 1/9 - 1
10-89624301-G-A c.75G>A p.L25= Synonymous 1/9 - 1
10-89624301-G-T c.75G>T p.L25F Missense 1/9 - 3
10-89624301-G-C c.75G>C p.L25F Missense 1/9 - 2
10-89624301-TGACCTG-T c.75_79+1del - SpliceDonorDeletion 1/9 1/8 1
10-89624302-A-G c.76A>G p.T26A Missense 1/9 - 3
10-89624302-A-C c.76A>C p.T26P Missense 1/9 - 5
10-89624303-CC-GG c.77_78inv p.T26R Missense 1/9 - 1
10-89624303-C-T c.77C>T p.T26I Missense 1/9 - 3
10-89624304-C-A c.78C>A p.T26= Synonymous 1/9 - 1
10-89624304-C-G c.78C>G p.T26= Synonymous 1/9 - 1
10-89624304-C-T c.78C>T p.T26= Synonymous 1/9 - 1
10-89624305-T-A c.79T>A p.Y27N Missense 1/9 - 4
10-89624305-T-G c.79T>G p.Y27D Missense 1/9 - 3
10-89624305-T-C c.79T>C p.Y27H Missense 1/9 - 3
10-89624306-G-C c.79+1G>C - IntronicSNV - 1/8 1
10-89624307-T-C c.79+2T>C - IntronicSNV - 1/8 1
10-89624312-A-G c.79+7A>G - IntronicSNV - 1/8 2
10-89624312-A-T c.79+7A>T - IntronicSNV - 1/8 1
10-89624328-C-G c.79+23C>G - IntronicSNV - 1/8 1
10-89624331-T-C c.79+26T>C - IntronicSNV - 1/8 1
10-89624334-A-G c.79+29A>G - IntronicSNV - 1/8 1
10-89624340-C-T c.79+35C>T - IntronicSNV - 1/8 1
10-89624341-T-C c.79+36T>C - IntronicSNV - 1/8 1
10-89624345-A-G c.79+40A>G - IntronicSNV - 1/8 1
10-89630142-A-T c.79+5837A>T - IntronicSNV - 1/8 1
10-89633231-C-T c.79+8926C>T - IntronicSNV - 1/8 1
10-89639962-G-A c.80-13820G>A - IntronicSNV - 1/8 3
10-89639962-G-T c.80-13820G>T - IntronicSNV - 1/8 3
10-89642609-A-G c.80-11173A>G - IntronicSNV - 1/8 2
10-89645473-A-G c.80-8309A>G - IntronicSNV - 1/8 4
10-89647154-G-A c.80-6628G>A - IntronicSNV - 1/8 1
10-89649577-A-G c.80-4205A>G - IntronicSNV - 1/8 4
10-89649838-G-A c.80-3944G>A - IntronicSNV - 1/8 1
10-89650759-C-T c.80-3023C>T - IntronicSNV - 1/8 2
10-89653686-A-G c.80-96A>G - IntronicSNV - 1/8 15
10-89653782-GATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATAC-G c.81_139del p.Y27* Unclassified 2/9 - 2
10-89653782-A-C c.80A>C p.Y27S Missense 2/9 - 4
10-89653782-A-G c.80A>G p.Y27C Missense 2/9 - 14
10-89653782-A-ATC c.81_82insCT p.I28Lfs*27 SpliceAcceptorInsertion 2/9 - 1
10-89653783-T-C c.81T>C p.Y27= Synonymous 2/9 - 1
10-89653783-T-G c.81T>G p.Y27* Nonsense 2/9 - 1
10-89653781-GATATTTATCCA-G c.81_91del p.Y27* SpliceAcceptorDeletion 2/9 - 2
10-89653783-AT-A c.81del p.Y27* Frameshift 2/9 - 1
10-89653784-A-T c.82A>T p.I28F Missense 2/9 - 1
10-89653781-GATATTT-G c.82_87del p.I28_Y29del InFrameDeletion 2/9 - 1
10-89653781-GATATTTATCCAAACATT-G c.82_98del p.I28Cfs*10 Frameshift 2/9 - 1
10-89653785-T-A c.83T>A p.I28N Missense 2/9 - 2
10-89653785-T-C c.83T>C p.I28T Missense 2/9 - 4
10-89653787-T-C c.85T>C p.Y29H Missense 2/9 - 1
10-89653787-TA-GC c.85_86delinsGC p.Y29A Missense 2/9 - 2
10-89653787-T-A c.85T>A p.Y29N Missense 2/9 - 1
10-89653788-A-C c.86A>C p.Y29S Missense 2/9 - 2
10-89653788-A-G c.86A>G p.Y29C Missense 2/9 - 1
10-89653788-A-T c.86A>T p.Y29F Missense 2/9 - 1
10-89653789-T-G c.87T>G p.Y29* Nonsense 2/9 - 3
10-89653789-T-A c.87T>A p.Y29* Nonsense 2/9 - 2
10-89653790-CCA-TGT c.88_90delinsTGT p.P30C Missense 2/9 - 1
10-89653790-C-G c.88C>G p.P30A Missense 2/9 - 1
10-89653791-C-A c.89C>A p.P30Q Missense 2/9 - 1
10-89653793-A-T c.91A>T p.N31Y Missense 2/9 - 1
10-89653794-A-G c.92A>G p.N31S Missense 2/9 - 1
10-89653795-AC-A c.93del p.N31Kfs*23 Frameshift 2/9 - 1
10-89653795-C-G c.93C>G p.N31K Missense 2/9 - 1
10-89653795-C-A c.93C>A p.N31K Missense 2/9 - 1
10-89653797-T-A c.95T>A p.I32N Missense 2/9 - 1
10-89653796-AT-A c.96del p.I33Lfs*21 Frameshift 2/9 - 1
10-89653795-CATT-C c.97_99del p.I33del InFrameDeletion 2/9 - 9
10-89653799-ATT-TAA c.97_99delinsTAA p.I33* Nonsense 2/9 - 1
10-89653800-T-G c.98T>G p.I33S Missense 2/9 - 2
10-89653801-TTG-T c.99_100del p.A34Yfs*9 Frameshift 2/9 - 1
10-89653801-TTGCTATGGG-T c.99_107del p.A34_G36del InFrameDeletion 2/9 - 1
10-89653802-GC-TG c.100_101delinsTG p.A34C Missense 2/9 - 2
10-89653802-G-A c.100G>A p.A34T Missense 2/9 - 2
10-89653802-GC-TT c.100_101delinsTT p.A34F Missense 2/9 - 1
10-89653803-C-T c.101C>T p.A34V Missense 2/9 - 2
10-89653803-C-A c.101C>A p.A34D Missense 2/9 - 7
10-89653803-CT-AG c.101_102inv p.A34E Missense 2/9 - 1
10-89653804-T-A c.102T>A p.A34= Synonymous 2/9 - 1
10-89653804-T-C c.102T>C p.A34= Synonymous 2/9 - 1
10-89653804-T-G c.102T>G p.A34= Synonymous 2/9 - 1
10-89653805-A-G c.103A>G p.M35V Missense 2/9 - 6
10-89653805-AT-GC c.103_104delinsGC p.M35A Missense 2/9 - 3
10-89653806-T-G c.104T>G p.M35R Missense 2/9 - 2
10-89653806-T-C c.104T>C p.M35T Missense 2/9 - 5
10-89653807-G-C c.105G>C p.M35I Missense 2/9 - 3
10-89653807-G-T c.105G>T p.M35I Missense 2/9 - 5
10-89653807-G-A c.105G>A p.M35I Missense 2/9 - 3
10-89653807-GG-AC c.105_106delinsAC p.M35_G36delinsIR MultiAAMissense 2/9 - 1
10-89653808-G-A c.106G>A p.G36R Missense 2/9 - 14
10-89653808-G-C c.106G>C p.G36R Missense 2/9 - 14
10-89653808-G-T c.106G>T p.G36* Nonsense 2/9 - 2
10-89653808-GG-CT c.106_107delinsCT p.G36L Missense 2/9 - 1
10-89653809-G-A c.107G>A p.G36E Missense 2/9 - 7
10-89653809-G-T c.107G>T p.G36V Missense 2/9 - 1
10-89653811-T-C c.109T>C p.F37L Missense 2/9 - 1
10-89653813-T-A c.111T>A p.F37L Missense 2/9 - 1
10-89653813-T-G c.111T>G p.F37L Missense 2/9 - 1
10-89653811-T-TTGTAGG c.110_111insGTAGGT p.F37delinsL* Frameshift 2/9 - 1
10-89653812-T-G c.110T>G p.F37C Missense 2/9 - 1
10-89653812-T-C c.110T>C p.F37S Missense 2/9 - 1
10-89653814-CC-AT c.112_113delinsAT p.P38I Missense 2/9 - 7
10-89653814-C-A c.112C>A p.P38T Missense 2/9 - 1
10-89653814-C-T c.112C>T p.P38S Missense 2/9 - 17
10-89653814-C-G c.112C>G p.P38A Missense 2/9 - 18
10-89653814-CCT-TAA c.112_114delinsTAA p.P38* Nonsense 2/9 - 1
10-89653814-CCT-AAG c.112_114delinsAAG p.P38K Missense 2/9 - 2
10-89653814-CC-GA c.112_113delinsGA p.P38D Missense 2/9 - 2
10-89653814-CC-GG c.112_113inv p.P38G Missense 2/9 - 1
10-89653815-C-T c.113C>T p.P38L Missense 2/9 - 2
10-89653815-C-A c.113C>A p.P38H Missense 2/9 - 6
10-89653817-G-C c.115G>C p.A39P Missense 2/9 - 2
10-89653817-G-A c.115G>A p.A39T Missense 2/9 - 3
10-89653818-C-T c.116C>T p.A39V Missense 2/9 - 3
10-89653818-CA-AC c.116_117delinsAC p.A39D Missense 2/9 - 2
10-89653819-A-AT c.117_118insT p.E40* Nonsense 2/9 - 1
10-89653820-G-T c.118G>T p.E40* Nonsense 2/9 - 4
10-89653820-G-A c.118G>A p.E40K Missense 2/9 - 10
10-89653820-GAA-TTT c.118_120delinsTTT p.E40F Missense 2/9 - 1
10-89653818-CAGAA-C c.120_123del p.E40Dfs*13 Frameshift 2/9 - 2
10-89653822-A-C c.120A>C p.E40D Missense 2/9 - 1
10-89653822-A-T c.120A>T p.E40D Missense 2/9 - 1
10-89653823-A-T c.121A>T p.R41* Nonsense 2/9 - 1
10-89653823-AGA-CAT c.121_123delinsCAT p.R41H Missense 2/9 - 1
10-89653823-AGA-GAC c.121_123delinsGAC p.R41D Missense 2/9 - 2
10-89653823-A-G c.121A>G p.R41G Missense 2/9 - 3
10-89653826-CT-GC c.124_125delinsGC p.L42A Missense 2/9 - 1
10-89653826-C-G c.124C>G p.L42V Missense 2/9 - 2
10-89653826-C-T c.124C>T p.L42F Missense 2/9 - 1
10-89653827-T-G c.125T>G p.L42R Missense 2/9 - 15
10-89653828-T-TTC c.126_127insTC p.E43Sfs*12 Frameshift 2/9 - 1
10-89653829-G-C c.127G>C p.E43Q Missense 2/9 - 1
10-89653829-G-T c.127G>T p.E43* Nonsense 2/9 - 4
10-89653829-TGA-T c.127_128del p.E43Rfs*8 Frameshift 2/9 - 1
10-89653827-TTGAAGGCGTATACAGGAACAATA-T c.127_149del p.E43* Frameshift 2/9 - 1
10-89653830-A-C c.128A>C p.E43A Missense 2/9 - 1
10-89653829-GAAGGCGTAT-G c.129_137del p.E43_Y46delinsD MultiAAMissense 2/9 - 1
10-89653833-G-A c.131G>A p.G44D Missense 2/9 - 12
10-89653833-G-T c.131G>T p.G44V Missense 2/9 - 1
10-89653833-GGCGTATA-G c.131_137del p.G44Afs*8 Frameshift 2/9 - 1
10-89653834-C-T c.132C>T p.G44= Synonymous 2/9 - 6
10-89653834-C-G c.132C>G p.G44= Synonymous 2/9 - 1
10-89653834-C-A c.132C>A p.G44= Synonymous 2/9 - 3
10-89653835-G-T c.133G>T p.V45L Missense 2/9 - 1
10-89653835-G-C c.133G>C p.V45L Missense 2/9 - 1
10-89653835-GT-CA c.133_134delinsCA p.V45Q Missense 2/9 - 1
10-89653835-GTA-TTT c.133_135delinsTTT p.V45F Missense 2/9 - 1
10-89653835-G-A c.133G>A p.V45I Missense 2/9 - 1
10-89653836-T-C c.134T>C p.V45A Missense 2/9 - 1
10-89653836-T-A c.134T>A p.V45E Missense 2/9 - 1
10-89653838-TA-GC c.136_137delinsGC p.Y46A Missense 2/9 - 1
10-89653838-T-G c.136T>G p.Y46D Missense 2/9 - 1
10-89653838-T-A c.136T>A p.Y46N Missense 2/9 - 1
10-89653838-T-C c.136T>C p.Y46H Missense 2/9 - 4
10-89653838-TAC-CAA c.136_138delinsCAA p.Y46Q Missense 2/9 - 1
10-89653835-GTA-G c.136_137del p.Y46Qfs*5 Frameshift 2/9 - 1
10-89653839-A-G c.137A>G p.Y46C Missense 2/9 - 1
10-89653840-C-G c.138C>G p.Y46* Nonsense 2/9 - 4
10-89653840-C-A c.138C>A p.Y46* Nonsense 2/9 - 4
10-89653840-C-CT c.138_139insT p.R47* Nonsense 2/9 - 1
10-89653841-A-G c.139A>G p.R47G Missense 2/9 - 8
10-89653841-AGG-CAT c.139_141delinsCAT p.R47H Missense 2/9 - 1
10-89653841-AG-TA c.139_140delinsTA p.R47* Nonsense 2/9 - 1
10-89653841-A-T c.139A>T p.R47W Missense 2/9 - 2
10-89653841-AG-CT c.139_140inv p.R47L Missense 2/9 - 2
10-89653841-AG-GC c.139_140delinsGC p.R47A Missense 2/9 - 3
10-89653841-AGG-GAC c.139_141delinsGAC p.R47D Missense 2/9 - 1
10-89653842-G-A c.140G>A p.R47K Missense 2/9 - 5
10-89653842-G-T c.140G>T p.R47M Missense 2/9 - 1
10-89653841-AG-A c.141del p.N48Tfs*6 Frameshift 2/9 - 3
10-89653843-G-C c.141G>C p.R47S Missense 2/9 - 5
10-89653843-G-T c.141G>T p.R47S Missense 2/9 - 5
10-89653844-AAC-TAA c.142_144delinsTAA p.N48* Nonsense 2/9 - 1
10-89653844-A-G c.142A>G p.N48D Missense 2/9 - 1
10-89653845-A-T c.143A>T p.N48I Missense 2/9 - 4
10-89653845-AC-GG c.143_144delinsGG p.N48R Missense 2/9 - 1
10-89653843-GA-G c.143del p.N48Tfs*6 Frameshift 2/9 - 2
10-89653846-C-G c.144C>G p.N48K Missense 2/9 - 8
10-89653846-C-A c.144C>A p.N48K Missense 2/9 - 8
10-89653846-C-CT c.144_145insT p.N49* Nonsense 2/9 - 1
10-89653848-A-G c.146A>G p.N49S Missense 2/9 - 2
10-89653848-A-T c.146A>T p.N49I Missense 2/9 - 1
10-89653848-AATATTGAT-A c.146_153del p.N49Rfs*11 Frameshift 2/9 - 1
10-89653850-AT-GC c.148_149delinsGC p.I50A Missense 2/9 - 2
10-89653848-ATAT-A c.148_150del p.I50del InFrameDeletion 2/9 - 1
10-89653851-T-C c.149T>C p.I50T Missense 2/9 - 4
10-89653850-AT-A c.150del p.I50Mfs*4 Frameshift 2/9 - 1
10-89653854-A-C c.152A>C p.D51A Missense 2/9 - 1
10-89653854-A-G c.152A>G p.D51G Missense 2/9 - 1
10-89653855-T-TTG c.153_154insTG p.D52Wfs*3 Frameshift 2/9 - 2
10-89653854-A-AT c.153dup p.D52* Nonsense 2/9 - 1
10-89653855-T-G c.153T>G p.D51E Missense 2/9 - 1
10-89653855-T-A c.153T>A p.D51E Missense 2/9 - 1
10-89653856-G-A c.154G>A p.D52N Missense 2/9 - 2
10-89653851-TTGA-T c.155_157del p.D52del InFrameDeletion 2/9 - 4
10-89653857-A-C c.155A>C p.D52A Missense 2/9 - 2
10-89653857-A-G c.155A>G p.D52G Missense 2/9 - 1
10-89653858-T-G c.156T>G p.D52E Missense 2/9 - 2
10-89653858-T-A c.156T>A p.D52E Missense 2/9 - 2
10-89653859-G-A c.157G>A p.V53I Missense 2/9 - 1
10-89653860-T-C c.158T>C p.V53A Missense 2/9 - 1
10-89653860-T-TATAC c.159_160insTACA p.V54Yfs*10 Frameshift 2/9 - 1
10-89653858-TGTA-T c.160_162del p.V54del InFrameDeletion 2/9 - 3
10-89653862-G-A c.160G>A p.V54I Missense 2/9 - 1
10-89653863-T-C c.161T>C p.V54A Missense 2/9 - 2
10-89653864-A-AT c.162_163insT p.R55* SpliceDonorInsertion 2/9 - 3
10-89653864-A-C c.162A>C p.V54= Synonymous 2/9 - 1
10-89653864-A-G c.162A>G p.V54= Synonymous 2/9 - 1
10-89653864-A-T c.162A>T p.V54= Synonymous 2/9 - 1
10-89653865-A-G c.163A>G p.R55G Missense 2/9 - 3
10-89653866-G-T c.164G>T p.R55M Missense 2/9 - 1
10-89653866-G-A c.164G>A p.R55K Missense 2/9 - 1
10-89653867-G-T c.164+1G>T - IntronicSNV - 2/8 2
10-89653867-G-A c.164+1G>A - IntronicSNV - 2/8 4
10-89654089-T-C c.164+223T>C - IntronicSNV - 2/8 1
10-89655236-A-G c.164+1370A>G - IntronicSNV - 2/8 1
10-89655242-C-CAA c.164+1381_164+1382dup - IntronicInsertion - 2/8 1
10-89655242-C-CA c.164+1382dup - IntronicInsertion - 2/8 1
10-89656156-A-C c.164+2290A>C - IntronicSNV - 2/8 1
10-89657150-C-A c.164+3284C>A - IntronicSNV - 2/8 17
10-89657150-C-T c.164+3284C>T - IntronicSNV - 2/8 17
10-89665190-A-C c.164+11324A>C - IntronicSNV - 2/8 1
10-89665190-A-T c.164+11324A>T - IntronicSNV - 2/8 1
10-89665512-G-A c.164+11646G>A - IntronicSNV - 2/8 1
10-89673569-C-T c.165-11701C>T - IntronicSNV - 2/8 2
10-89674157-T-G c.165-11113T>G - IntronicSNV - 2/8 8
10-89675296-A-G c.165-9974A>G - IntronicSNV - 2/8 7
10-89675590-G-C c.165-9680G>C - IntronicSNV - 2/8 2
10-89677107-A-G c.165-8163A>G - IntronicSNV - 2/8 2
10-89677107-A-T c.165-8163A>T - IntronicSNV - 2/8 2
10-89677387-T-C c.165-7883T>C - IntronicSNV - 2/8 1
10-89678296-A-G c.165-6974A>G - IntronicSNV - 2/8 1
10-89680631-T-C c.165-4639T>C - IntronicSNV - 2/8 1
10-89681688-G-A c.165-3582G>A - IntronicSNV - 2/8 2
10-89681688-G-T c.165-3582G>T - IntronicSNV - 2/8 2
10-89682833-G-A c.165-2437G>A - IntronicSNV - 2/8 1
10-89682833-G-C c.165-2437G>C - IntronicSNV - 2/8 1
10-89682833-G-T c.165-2437G>T - IntronicSNV - 2/8 1
10-89685270-GGTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCTGTAAGTATGTTTTC-G c.165_209+14del - Multi:SpliceAcceptorDeletion,CdsStopDeletion 3/9 3/8 2
10-89685270-G-T c.165G>T p.R55S Missense 3/9 - 2
10-89685268-A-AG c.165dup p.F56Vfs*7 SpliceAcceptorInsertion 3/9 - 2
10-89685270-G-C c.165G>C p.R55S Missense 3/9 - 1
10-89685271-T-C c.166T>C p.F56L Missense 3/9 - 1
10-89685273-T-A c.168T>A p.F56L Missense 3/9 - 1
10-89685273-T-G c.168T>G p.F56L Missense 3/9 - 1
10-89685271-TT-GC c.166_167delinsGC p.F56A Missense 3/9 - 2
10-89685271-T-G c.166T>G p.F56V Missense 3/9 - 2
10-89685271-T-A c.166T>A p.F56I Missense 3/9 - 1
10-89685272-TT-AA c.167_168inv p.F56* Nonsense 3/9 - 1
10-89685272-T-G c.167T>G p.F56C Missense 3/9 - 1
10-89685274-TTG-AAC c.169_171delinsAAC p.L57N Missense 3/9 - 1
10-89685274-T-TA c.169_170insA p.L57Yfs*6 Frameshift 3/9 - 1
10-89685270-GT-G c.170del p.L57Wfs*42 Frameshift 3/9 - 4
10-89685275-TTGG-T c.170_172del p.L57_D58delinsY MultiAAMissense 3/9 - 1
10-89685270-G-GT c.170dup p.L57Ffs*6 Frameshift 3/9 - 1
10-89685275-T-A c.170T>A p.L57* Nonsense 3/9 - 1
10-89685275-T-G c.170T>G p.L57W Missense 3/9 - 2
10-89685275-T-C c.170T>C p.L57S Missense 3/9 - 3
10-89685277-GA-TG c.172_173delinsTG p.D58C Missense 3/9 - 1
10-89685278-A-C c.173A>C p.D58A Missense 3/9 - 1
10-89685280-TC-GA c.175_176inv p.S59E Missense 3/9 - 1
10-89685281-C-G c.176C>G p.S59* Nonsense 3/9 - 7
10-89685281-C-A c.176C>A p.S59* Nonsense 3/9 - 9
10-89685281-C-T c.176C>T p.S59L Missense 3/9 - 1
10-89685282-A-G c.177A>G p.S59= Synonymous 3/9 - 1
10-89685283-A-G c.178A>G p.K60E Missense 3/9 - 1
10-89685283-AA-GC c.178_179delinsGC p.K60A Missense 3/9 - 1
10-89685284-A-G c.179A>G p.K60R Missense 3/9 - 3
10-89685285-G-T c.180G>T p.K60N Missense 3/9 - 1
10-89685286-CA-GC c.181_182delinsGC p.H61A Missense 3/9 - 2
10-89685286-C-G c.181C>G p.H61D Missense 3/9 - 4
10-89685286-GCATAAAA-G c.181_187del p.H61Tfs*36 Frameshift 3/9 - 1
10-89685286-C-T c.181C>T p.H61Y Missense 3/9 - 1
10-89685287-A-G c.182A>G p.H61R Missense 3/9 - 17
10-89685287-A-T c.182A>T p.H61L Missense 3/9 - 5
10-89685288-T-A c.183T>A p.H61Q Missense 3/9 - 2
10-89685288-T-G c.183T>G p.H61Q Missense 3/9 - 2
10-89685289-AA-GC c.184_185delinsGC p.K62A Missense 3/9 - 1
10-89685289-A-T c.184A>T p.K62* Nonsense 3/9 - 1
10-89685290-A-G c.185A>G p.K62R Missense 3/9 - 7
10-89685286-CATAAAAACCATTACAAG-C c.185_201del p.K62Ifs*6 Frameshift 3/9 - 1
10-89685291-A-AT c.186_187insT p.N63* Nonsense 3/9 - 1
10-89685291-A-C c.186A>C p.K62N Missense 3/9 - 1
10-89685291-A-T c.186A>T p.K62N Missense 3/9 - 1
10-89685292-AA-GC c.187_188delinsGC p.N63A Missense 3/9 - 1
10-89685288-TA-T c.188del p.N63Tfs*36 Frameshift 3/9 - 1
10-89685293-A-G c.188A>G p.N63S Missense 3/9 - 1
10-89685293-A-C c.188A>C p.N63T Missense 3/9 - 1
10-89685288-T-TA c.188dup p.N63Kfs*11 Frameshift 3/9 - 2
10-89685295-C-G c.190C>G p.H64D Missense 3/9 - 1
10-89685295-C-T c.190C>T p.H64Y Missense 3/9 - 1
10-89685298-TTA-T c.193_194del p.Y65Qfs*8 Frameshift 3/9 - 1
10-89685298-T-G c.193T>G p.Y65D Missense 3/9 - 1
10-89685299-A-G c.194A>G p.Y65C Missense 3/9 - 8
10-89685299-A-C c.194A>C p.Y65S Missense 3/9 - 1
10-89685300-C-G c.195C>G p.Y65* Nonsense 3/9 - 3
10-89685300-C-A c.195C>A p.Y65* Nonsense 3/9 - 6
10-89685301-A-G c.196A>G p.K66E Missense 3/9 - 3
10-89685302-A-G c.197A>G p.K66R Missense 3/9 - 3
10-89685302-A-T c.197A>T p.K66M Missense 3/9 - 1
10-89685302-A-C c.197A>C p.K66T Missense 3/9 - 1
10-89685303-G-T c.198G>T p.K66N Missense 3/9 - 3
10-89685303-G-C c.198G>C p.K66N Missense 3/9 - 4
10-89685303-G-A c.198G>A p.K66= Synonymous 3/9 - 1
10-89685305-T-A c.200T>A p.I67K Missense 3/9 - 3
10-89685305-T-G c.200T>G p.I67R Missense 3/9 - 1
10-89685305-T-C c.200T>C p.I67T Missense 3/9 - 2
10-89685306-A-C c.201A>C p.I67= Synonymous 3/9 - 3
10-89685306-A-T c.201A>T p.I67= Synonymous 3/9 - 3
10-89685306-A-G c.201A>G p.I67M Missense 3/9 - 2
10-89685307-T-A c.202T>A p.Y68N Missense 3/9 - 6
10-89685307-T-C c.202T>C p.Y68H Missense 3/9 - 25
10-89685307-T-G c.202T>G p.Y68D Missense 3/9 - 3
10-89685307-TA-CG c.202_203delinsCG p.Y68R Missense 3/9 - 1
10-89685308-A-C c.203A>C p.Y68S Missense 3/9 - 1
10-89685308-A-G c.203A>G p.Y68C Missense 3/9 - 8
10-89685308-A-T c.203A>T p.Y68F Missense 3/9 - 2
10-89685309-C-A c.204C>A p.Y68* Nonsense 3/9 - 4
10-89685309-C-G c.204C>G p.Y68* Nonsense 3/9 - 4
10-89685307-TACA-T c.204_206del p.N69del InFrameDeletion 3/9 - 1
10-89685310-A-G c.205A>G p.N69D Missense 3/9 - 3
10-89685310-AA-GC c.205_206delinsGC p.N69A Missense 3/9 - 1
10-89685309-CA-C c.206del p.N69Ifs*30 Frameshift 3/9 - 1
10-89685311-A-G c.206A>G p.N69S Missense 3/9 - 1
10-89685311-A-AT c.207dup p.L70Sfs*4 SpliceDonorInsertion 3/9 - 2
10-89685312-T-TA c.207_208insA p.L70Tfs*4 SpliceDonorInsertion 3/9 - 2
10-89685312-T-TG c.207_208insG p.L70Afs*4 SpliceDonorInsertion 3/9 - 2
10-89685313-C-G c.208C>G p.L70V Missense 3/9 - 5
10-89685313-CT-GC c.208_209delinsGC p.L70A Missense 3/9 - 1
10-89685313-TCTG-T c.208_209+1del - SpliceDonorDeletion 3/9 3/8 1
10-89685313-C-A c.208C>A p.L70I Missense 3/9 - 1
10-89685312-T-TC c.208dup p.L70Pfs*4 SpliceDonorInsertion 3/9 - 2
10-89685314-T-C c.209T>C p.L70P Missense 3/9 - 5
10-89685314-T-A c.209T>A p.L70H Missense 3/9 - 1
10-89685315-G-C c.209+1G>C - IntronicSNV - 3/8 1
10-89685315-G-T c.209+1G>T - IntronicSNV - 3/8 3
10-89685313-CTG-C c.209+1_209+2del - SpliceDonorDeletion - 3/8 1
10-89685315-TG-T c.209+1del - IntronicDeletion - 3/8 1
10-89685316-T-A c.209+2T>A - IntronicSNV - 3/8 1
10-89685316-T-C c.209+2T>C - IntronicSNV - 3/8 2
10-89685317-A-T c.209+3A>T - IntronicSNV - 3/8 1
10-89685317-A-C c.209+3A>C - IntronicSNV - 3/8 1
10-89685314-TGTAA-T c.209+4_209+7del - IntronicDeletion - 3/8 4
10-89685319-G-A c.209+5G>A - IntronicSNV - 3/8 5
10-89685319-AGTATGTTTTCT-A c.209+5_209+15del - IntronicDeletion - 3/8 1
10-89685320-T-C c.209+6T>C - IntronicSNV - 3/8 1
10-89685643-T-C c.209+329T>C - IntronicSNV - 3/8 6
10-89686509-G-T c.209+1195G>T - IntronicSNV - 3/8 3
10-89689321-G-A c.210-1482G>A - IntronicSNV - 3/8 4
10-89690804-TG-GC c.211_212delinsGC p.C71A Missense 4/9 - 3
10-89690804-T-A c.211T>A p.C71S Missense 4/9 - 5
10-89690805-G-C c.212G>C p.C71S Missense 4/9 - 5
10-89690802-GT-G c.211del p.C71Vfs*28 Frameshift 4/9 - 1
10-89690804-T-G c.211T>G p.C71G Missense 4/9 - 1
10-89690805-G-A c.212G>A p.C71Y Missense 4/9 - 7
10-89690805-G-T c.212G>T p.C71F Missense 4/9 - 3
10-89690806-T-A c.213T>A p.C71* Nonsense 4/9 - 2
10-89690806-T-G c.213T>G p.C71W Missense 4/9 - 1
10-89690807-GC-TG c.214_215delinsTG p.A72C Missense 4/9 - 4
10-89690807-GCT-TAA c.214_216delinsTAA p.A72* Nonsense 4/9 - 1
10-89690807-GCT-TGG c.214_216delinsTGG p.A72W Missense 4/9 - 1
10-89690808-CT-AG c.215_216inv p.A72E Missense 4/9 - 1
10-89690808-C-T c.215C>T p.A72V Missense 4/9 - 1
10-89690808-C-A c.215C>A p.A72D Missense 4/9 - 2
10-89690808-GCT-G c.215_216del p.A72Gfs*5 Frameshift 4/9 - 1
10-89690808-C-G c.215C>G p.A72G Missense 4/9 - 1
10-89690808-C-CT c.216dup p.E73* Nonsense 4/9 - 2
10-89690809-T-A c.216T>A p.A72= Synonymous 4/9 - 1
10-89690809-T-C c.216T>C p.A72= Synonymous 4/9 - 1
10-89690809-T-G c.216T>G p.A72= Synonymous 4/9 - 1
10-89690810-G-C c.217G>C p.E73Q Missense 4/9 - 2
10-89690810-G-T c.217G>T p.E73* Nonsense 4/9 - 3
10-89690810-GA-AG c.217_218delinsAG p.E73R Missense 4/9 - 1
10-89690810-GA-AT c.217_218delinsAT p.E73I Missense 4/9 - 1
10-89690810-G-A c.217G>A p.E73K Missense 4/9 - 1
10-89690811-A-C c.218A>C p.E73A Missense 4/9 - 1
10-89690812-A-G c.219A>G p.E73= Synonymous 4/9 - 2
10-89690809-TGAAA-T c.219_222del p.E73Dfs*25 Frameshift 4/9 - 2
10-89690812-A-C c.219A>C p.E73D Missense 4/9 - 3
10-89690812-A-T c.219A>T p.E73D Missense 4/9 - 3
10-89690813-AG-GA c.220_221delinsGA p.R74E Missense 4/9 - 1
10-89690813-AG-CC c.220_221delinsCC p.R74P Missense 4/9 - 1
10-89690813-AGA-GAC c.220_222delinsGAC p.R74D Missense 4/9 - 2
10-89690813-A-T c.220A>T p.R74* Nonsense 4/9 - 1
10-89690813-AG-GC c.220_221delinsGC p.R74A Missense 4/9 - 1
10-89690813-AGA-TGT c.220_222delinsTGT p.R74C Missense 4/9 - 1
10-89690810-GA-G c.220del p.R74Dfs*25 Frameshift 4/9 - 1
10-89690812-AAG-A c.221_222del p.R74Tfs*3 Frameshift 4/9 - 1
10-89690814-G-C c.221G>C p.R74T Missense 4/9 - 3
10-89690814-G-T c.221G>T p.R74I Missense 4/9 - 2
10-89690812-AAGACATT-A c.221_227del p.R74Mfs*23 Frameshift 4/9 - 1
10-89690816-C-A c.223C>A p.H75N Missense 4/9 - 1
10-89690814-GAC-G c.223_224del p.H75Lfs*2 Frameshift 4/9 - 1
10-89690816-ACATTATGACACC-A c.223_234del p.H75_T78del InFrameDeletion 4/9 - 1
10-89690816-C-CA c.224dup p.H75Qfs*3 Frameshift 4/9 - 1
10-89690817-CATTAT-C c.224_228del p.H75Rfs*6 Frameshift 4/9 - 1
10-89690816-CATT-C c.226_228del p.Y76del InFrameDeletion 4/9 - 1
10-89690818-TTA-T c.227_228del p.Y76* Frameshift 4/9 - 1
10-89690820-A-G c.227A>G p.Y76C Missense 4/9 - 1
10-89690821-T-A c.228T>A p.Y76* Nonsense 4/9 - 5
10-89690821-T-G c.228T>G p.Y76* Nonsense 4/9 - 4
10-89690822-G-A c.229G>A p.D77N Missense 4/9 - 1
10-89690823-A-T c.230A>T p.D77V Missense 4/9 - 2
10-89690823-A-C c.230A>C p.D77A Missense 4/9 - 1
10-89690825-A-G c.232A>G p.T78A Missense 4/9 - 2
10-89690826-C-T c.233C>T p.T78I Missense 4/9 - 1
10-89690827-C-A c.234C>A p.T78= Synonymous 4/9 - 1
10-89690827-C-T c.234C>T p.T78= Synonymous 4/9 - 4
10-89690828-G-A c.235G>A p.A79T Missense 4/9 - 16
10-89690828-G-T c.235G>T p.A79S Missense 4/9 - 3
10-89690829-C-T c.236C>T p.A79V Missense 4/9 - 1
10-89690829-C-A c.236C>A p.A79D Missense 4/9 - 1
10-89690829-CC-AG c.236_237delinsAG p.A79E Missense 4/9 - 1
10-89690830-C-A c.237C>A p.A79= Synonymous 4/9 - 1
10-89690830-C-G c.237C>G p.A79= Synonymous 4/9 - 1
10-89690830-C-T c.237C>T p.A79= Synonymous 4/9 - 1
10-89690830-C-CT c.237_238insT p.K80* Nonsense 4/9 - 1
10-89690831-A-T c.238A>T p.K80* Nonsense 4/9 - 3
10-89690831-A-G c.238A>G p.K80E Missense 4/9 - 1
10-89690831-AA-GC c.238_239delinsGC p.K80A Missense 4/9 - 1
10-89690832-A-C c.239A>C p.K80T Missense 4/9 - 1
10-89690832-A-G c.239A>G p.K80R Missense 4/9 - 4
10-89690833-A-G c.240A>G p.K80= Synonymous 4/9 - 1
10-89690834-T-C c.241T>C p.F81L Missense 4/9 - 1
10-89690836-T-A c.243T>A p.F81L Missense 4/9 - 1
10-89690836-T-G c.243T>G p.F81L Missense 4/9 - 1
10-89690835-T-G c.242T>G p.F81C Missense 4/9 - 1
10-89690838-AT-GG c.245_246delinsGG p.N82R Missense 4/9 - 1
10-89690838-A-C c.245A>C p.N82T Missense 4/9 - 1
10-89690836-T-TA c.245dup p.N82Kfs*10 Frameshift 4/9 - 1
10-89690840-T-A c.247T>A p.C83S Missense 4/9 - 7
10-89690841-G-C c.248G>C p.C83S Missense 4/9 - 7
10-89690840-TG-GC c.247_248delinsGC p.C83A Missense 4/9 - 3
10-89690841-G-A c.248G>A p.C83Y Missense 4/9 - 1
10-89690841-G-T c.248G>T p.C83F Missense 4/9 - 1
10-89690842-C-A c.249C>A p.C83* Nonsense 4/9 - 4
10-89690841-GCAGAGGTAGGTATGAATGTACTGTA-G c.250_253+21del - SpliceDonorDeletion 4/9 4/8 1
10-89690843-A-G c.250A>G p.R84G Missense 4/9 - 1
10-89690844-G-A c.251G>A p.R84K Missense 4/9 - 1
10-89690845-A-G c.252A>G p.R84= Synonymous 4/9 - 1
10-89690846-G-T c.253G>T p.V85F Missense 4/9 - 5
10-89690846-G-C c.253G>C p.V85L Missense 4/9 - 1
10-89690846-G-A c.253G>A p.V85I Missense 4/9 - 1
10-89690847-G-T c.253+1G>T - IntronicSNV - 4/8 4
10-89690847-G-A c.253+1G>A - IntronicSNV - 4/8 3
10-89690845-A-AG c.253+1dup - SpliceDonorInsertion 4/9 - 1
10-89690847-G-GT c.253+2dup - IntronicInsertion - 4/8 1
10-89690850-G-A c.253+4G>A - IntronicSNV - 4/8 1
10-89690851-G-T c.253+5G>T - IntronicSNV - 4/8 2
10-89690851-G-A c.253+5G>A - IntronicSNV - 4/8 1
10-89690889-G-A c.253+43G>A - IntronicSNV - 4/8 1
10-89690893-G-A c.253+47G>A - IntronicSNV - 4/8 1
10-89690921-G-A c.253+75G>A - IntronicSNV - 4/8 1
10-89690952-T-C c.253+106T>C - IntronicSNV - 4/8 1
10-89690952-T-TTTATC c.253+109_253+110insTCTTA - IntronicInsertion - 4/8 2
10-89690955-A-ATCTT c.253+109_253+110insTCTT - IntronicInsertion - 4/8 1
10-89690956-A-T c.253+110A>T - IntronicSNV - 4/8 1
10-89691021-T-A c.253+175T>A - IntronicSNV - 4/8 1
10-89691049-A-G c.253+203A>G - IntronicSNV - 4/8 1
10-89691165-C-T c.253+319C>T - IntronicSNV - 4/8 1
10-89691173-C-T c.253+327C>T - IntronicSNV - 4/8 1
10-89691183-C-A c.253+337C>A - IntronicSNV - 4/8 1
10-89691312-C-T c.253+466C>T - IntronicSNV - 4/8 1
10-89691326-C-A c.253+480C>A - IntronicSNV - 4/8 1
10-89691326-CT-C c.253+484del - IntronicDeletion - 4/8 1
10-89691419-G-A c.253+573G>A - IntronicSNV - 4/8 1
10-89691433-A-G c.253+587A>G - IntronicSNV - 4/8 1
10-89691431-G-GA c.253+588dup - IntronicInsertion - 4/8 1
10-89691437-G-A c.253+591G>A - IntronicSNV - 4/8 1
10-89691449-C-T c.253+603C>T - IntronicSNV - 4/8 1
10-89691479-C-T c.253+633C>T - IntronicSNV - 4/8 1
10-89691483-A-G c.253+637A>G - IntronicSNV - 4/8 1
10-89691535-T-C c.253+689T>C - IntronicSNV - 4/8 1
10-89691548-G-A c.253+702G>A - IntronicSNV - 4/8 1
10-89691572-T-C c.253+726T>C - IntronicSNV - 4/8 1
10-89691569-GT-G c.253+731del - IntronicDeletion - 4/8 1
10-89691584-G-T c.253+738G>T - IntronicSNV - 4/8 1
10-89691604-TG-T c.253+758del - IntronicDeletion - 4/8 1
10-89691612-C-G c.253+766C>G - IntronicSNV - 4/8 1
10-89691620-A-C c.253+774A>C - IntronicSNV - 4/8 1
10-89691637-G-A c.253+791G>A - IntronicSNV - 4/8 1
10-89691644-T-C c.253+798T>C - IntronicSNV - 4/8 1
10-89691665-C-T c.253+819C>T - IntronicSNV - 4/8 1
10-89691675-T-C c.253+829T>C - IntronicSNV - 4/8 1
10-89691690-AC-A c.253+846del - IntronicDeletion - 4/8 1
10-89691694-C-T c.253+848C>T - IntronicSNV - 4/8 1
10-89691778-C-T c.253+932C>T - IntronicSNV - 4/8 1
10-89691787-C-T c.253+941C>T - IntronicSNV - 4/8 1
10-89692769-G-A c.254-1G>A - IntronicSNV - 4/8 1
10-89692770-GTT-G c.254_255del p.V85Gfs*6 SpliceAcceptorDeletion 5/9 - 1
10-89692771-T-TAA c.255_256insAA p.A86Kfs*14 SpliceAcceptorInsertion 5/9 - 1
10-89692769-G-GT c.255dup p.A86Cfs*6 SpliceAcceptorInsertion 5/9 - 1
10-89692771-T-TC c.255_256insC p.A86Rfs*6 SpliceAcceptorInsertion 5/9 - 1
10-89692771-T-TA c.255_256insA p.A86Sfs*6 SpliceAcceptorInsertion 5/9 - 1
10-89692772-G-C c.256G>C p.A86P Missense 5/9 - 2
10-89692772-G-T c.256G>T p.A86S Missense 5/9 - 2
10-89692771-T-TG c.256dup p.A86Gfs*6 Frameshift 5/9 - 1
10-89692772-TGCACAATATC-T c.256_265del p.A86Lfs*10 Frameshift 5/9 - 1
10-89692773-C-T c.257C>T p.A86V Missense 5/9 - 2
10-89692773-C-A c.257C>A p.A86E Missense 5/9 - 3
10-89692773-GC-G c.257del p.A86Dfs*13 Frameshift 5/9 - 1
10-89692774-A-C c.258A>C p.A86= Synonymous 5/9 - 1
10-89692774-A-G c.258A>G p.A86= Synonymous 5/9 - 1
10-89692774-A-T c.258A>T p.A86= Synonymous 5/9 - 1
10-89692775-C-T c.259C>T p.Q87* Nonsense 5/9 - 12
10-89692776-A-C c.260A>C p.Q87P Missense 5/9 - 4
10-89692776-A-G c.260A>G p.Q87R Missense 5/9 - 1
10-89692776-CAATATCCTTT-C c.260_269del p.Q87Lfs*9 Frameshift 5/9 - 1
10-89692778-T-A c.262T>A p.Y88N Missense 5/9 - 2
10-89692778-T-C c.262T>C p.Y88H Missense 5/9 - 4
10-89692779-A-G c.263A>G p.Y88C Missense 5/9 - 9
10-89692779-A-T c.263A>T p.Y88F Missense 5/9 - 1
10-89692778-T-TA c.263dup p.Y88* Nonsense 5/9 - 1
10-89692780-T-A c.264T>A p.Y88* Nonsense 5/9 - 7
10-89692780-T-G c.264T>G p.Y88* Nonsense 5/9 - 7
10-89692778-TATCCTTTTGA-T c.264_273del p.Y88* Frameshift 5/9 - 1
10-89692781-C-A c.265C>A p.P89T Missense 5/9 - 1
10-89692782-C-G c.266C>G p.P89R Missense 5/9 - 1
10-89692782-C-T c.266C>T p.P89L Missense 5/9 - 1
10-89692782-C-A c.266C>A p.P89H Missense 5/9 - 1
10-89692784-TTT-GAG c.268_270delinsGAG p.F90E Missense 5/9 - 1
10-89692784-TT-GC c.268_269delinsGC p.F90A Missense 5/9 - 1
10-89692784-T-C c.268T>C p.F90L Missense 5/9 - 2
10-89692786-T-A c.270T>A p.F90L Missense 5/9 - 2
10-89692786-T-G c.270T>G p.F90L Missense 5/9 - 2
10-89692785-T-C c.269T>C p.F90S Missense 5/9 - 11
10-89692785-T-G c.269T>G p.F90C Missense 5/9 - 2
10-89692782-CT-C c.270del p.F90Lfs*9 Frameshift 5/9 - 4
10-89692786-TTGAAGACCATAACCC-T c.270_284del p.F90_P95delinsL MultiAAMissense 5/9 - 1
10-89692787-G-T c.271G>T p.E91* Nonsense 5/9 - 2
10-89692787-GA-AG c.271_272delinsAG p.E91R Missense 5/9 - 1
10-89692787-G-C c.271G>C p.E91Q Missense 5/9 - 2
10-89692788-A-G c.272A>G p.E91G Missense 5/9 - 2
10-89692790-G-T c.274G>T p.D92Y Missense 5/9 - 3
10-89692790-G-C c.274G>C p.D92H Missense 5/9 - 13
10-89692790-GA-TG c.274_275delinsTG p.D92C Missense 5/9 - 1
10-89692790-G-A c.274G>A p.D92N Missense 5/9 - 8
10-89692790-GA-TT c.274_275delinsTT p.D92F Missense 5/9 - 1
10-89692791-A-G c.275A>G p.D92G Missense 5/9 - 11
10-89692791-A-T c.275A>T p.D92V Missense 5/9 - 8
10-89692791-A-C c.275A>C p.D92A Missense 5/9 - 14
10-89692792-C-G c.276C>G p.D92E Missense 5/9 - 19
10-89692792-C-A c.276C>A p.D92E Missense 5/9 - 19
10-89692793-C-G c.277C>G p.H93D Missense 5/9 - 4
10-89692793-CA-GC c.277_278delinsGC p.H93A Missense 5/9 - 5
10-89692793-C-T c.277C>T p.H93Y Missense 5/9 - 13
10-89692793-C-A c.277C>A p.H93N Missense 5/9 - 1
10-89692794-A-G c.278A>G p.H93R Missense 5/9 - 40
10-89692794-A-C c.278A>C p.H93P Missense 5/9 - 2
10-89692794-A-T c.278A>T p.H93L Missense 5/9 - 2
10-89692795-T-A c.279T>A p.H93Q Missense 5/9 - 3
10-89692795-T-G c.279T>G p.H93Q Missense 5/9 - 3
10-89692795-T-C c.279T>C p.H93= Synonymous 5/9 - 1
10-89692794-A-AT c.279dup p.N94* Nonsense 5/9 - 1
10-89692796-AA-GC c.280_281delinsGC p.N94A Missense 5/9 - 1
10-89692797-A-T c.281A>T p.N94I Missense 5/9 - 1
10-89692797-A-G c.281A>G p.N94S Missense 5/9 - 2
10-89692799-C-A c.283C>A p.P95T Missense 5/9 - 1
10-89692799-C-T c.283C>T p.P95S Missense 5/9 - 10
10-89692800-C-A c.284C>A p.P95Q Missense 5/9 - 2
10-89692800-C-T c.284C>T p.P95L Missense 5/9 - 8
10-89692800-C-G c.284C>G p.P95R Missense 5/9 - 3
10-89692802-C-G c.286C>G p.P96A Missense 5/9 - 2
10-89692802-C-T c.286C>T p.P96S Missense 5/9 - 6
10-89692802-CC-GA c.286_287delinsGA p.P96E Missense 5/9 - 1
10-89692802-C-A c.286C>A p.P96T Missense 5/9 - 1
10-89692803-C-A c.287C>A p.P96Q Missense 5/9 - 2
10-89692803-C-T c.287C>T p.P96L Missense 5/9 - 5
10-89692803-C-G c.287C>G p.P96R Missense 5/9 - 3
10-89692805-C-T c.289C>T p.Q97* Nonsense 5/9 - 6
10-89692806-A-G c.290A>G p.Q97R Missense 5/9 - 1
10-89692806-A-T c.290A>T p.Q97L Missense 5/9 - 1
10-89692807-G-T c.291G>T p.Q97H Missense 5/9 - 3
10-89692807-G-C c.291G>C p.Q97H Missense 5/9 - 3
10-89692805-CAGCTAGAACTT-C c.291_301del p.Q97Hfs*6 Frameshift 5/9 - 1
10-89692808-C-G c.292C>G p.L98V Missense 5/9 - 1
10-89692808-C-T c.292C>T p.L98= Synonymous 5/9 - 2
10-89692808-CTA-TTT c.292_294delinsTTT p.L98F Missense 5/9 - 1
10-89692811-G-T c.295G>T p.E99* Nonsense 5/9 - 6
10-89692811-G-A c.295G>A p.E99K Missense 5/9 - 4
10-89692813-A-C c.297A>C p.E99D Missense 5/9 - 2
10-89692813-A-T c.297A>T p.E99D Missense 5/9 - 2
10-89692811-GA-G c.297del p.E99Dfs*14 Frameshift 5/9 - 1
10-89692813-A-G c.297A>G p.E99= Synonymous 5/9 - 1
10-89692811-G-GA c.297dup p.L100Tfs*7 Frameshift 5/9 - 1
10-89692811-GAACTTATCAA-G c.297_306del p.E99Dfs*11 Frameshift 5/9 - 1
10-89692814-CT-GC c.298_299delinsGC p.L100A Missense 5/9 - 1
10-89692814-C-T c.298C>T p.L100F Missense 5/9 - 1
10-89692815-T-C c.299T>C p.L100P Missense 5/9 - 4
10-89692817-A-T c.301A>T p.I101F Missense 5/9 - 1
10-89692816-T-TA c.301dup p.I101Nfs*6 Frameshift 5/9 - 3
10-89692817-AT-GC c.301_302delinsGC p.I101A Missense 5/9 - 1
10-89692818-T-C c.302T>C p.I101T Missense 5/9 - 18
10-89692818-T-A c.302T>A p.I101N Missense 5/9 - 2
10-89692818-AT-A c.302del p.I101Tfs*12 Frameshift 5/9 - 2
10-89692818-TCAA-ACC c.302_305delinsACC p.I101Nfs*12 Frameshift 5/9 - 1
10-89692816-TATC-T c.302_304del p.I101del InFrameDeletion 5/9 - 1
10-89692820-A-T c.304A>T p.K102* Nonsense 5/9 - 1
10-89692820-AA-GC c.304_305delinsGC p.K102A Missense 5/9 - 1
10-89692820-A-C c.304A>C p.K102Q Missense 5/9 - 1
10-89692821-A-G c.305A>G p.K102R Missense 5/9 - 2
10-89692819-CA-C c.306del p.K102Nfs*11 Frameshift 5/9 - 1
10-89692822-A-AAAG c.306_307insAAG p.K102dup InFrameInsertion 5/9 - 1
10-89692823-C-T c.307C>T p.P103S Missense 5/9 - 2
10-89692823-C-A c.307C>A p.P103T Missense 5/9 - 1
10-89692824-CC-AA c.308_309delinsAA p.P103Q Missense 5/9 - 1
10-89692822-ACC-A c.308_309del p.P103Lfs*3 Frameshift 5/9 - 1
10-89692822-AC-A c.309del p.C105Vfs*8 Frameshift 5/9 - 1
10-89692825-CCTTTTGTGAAG-C c.309_319del p.F104Sfs*2 Frameshift 5/9 - 1
10-89692826-T-C c.310T>C p.F104L Missense 5/9 - 3
10-89692828-T-A c.312T>A p.F104L Missense 5/9 - 1
10-89692828-T-G c.312T>G p.F104L Missense 5/9 - 2
10-89692826-T-G c.310T>G p.F104V Missense 5/9 - 1
10-89692827-T-C c.311T>C p.F104S Missense 5/9 - 1
10-89692829-T-G c.313T>G p.C105G Missense 5/9 - 3
10-89692825-C-CT c.313dup p.C105Lfs*2 Frameshift 5/9 - 1
10-89692829-TG-AC c.313_314delinsAC p.C105T Missense 5/9 - 1
10-89692825-CT-C c.313del p.C105Vfs*8 Frameshift 5/9 - 1
10-89692829-T-C c.313T>C p.C105R Missense 5/9 - 2
10-89692829-TG-GC c.313_314delinsGC p.C105A Missense 5/9 - 2
10-89692830-G-A c.314G>A p.C105Y Missense 5/9 - 10
10-89692830-G-T c.314G>T p.C105F Missense 5/9 - 6
10-89692831-T-G c.315T>G p.C105W Missense 5/9 - 1
10-89692832-G-T c.316G>T p.E106* Nonsense 5/9 - 4
10-89692832-G-C c.316G>C p.E106Q Missense 5/9 - 1
10-89692835-G-C c.319G>C p.D107H Missense 5/9 - 2
10-89692835-G-T c.319G>T p.D107Y Missense 5/9 - 8
10-89692835-G-A c.319G>A p.D107N Missense 5/9 - 1
10-89692836-A-G c.320A>G p.D107G Missense 5/9 - 4
10-89692836-A-T c.320A>T p.D107V Missense 5/9 - 1
10-89692836-A-C c.320A>C p.D107A Missense 5/9 - 1
10-89692837-T-G c.321T>G p.D107E Missense 5/9 - 2
10-89692838-C-T c.322C>T p.L108F Missense 5/9 - 2
10-89692838-C-G c.322C>G p.L108V Missense 5/9 - 1
10-89692838-TC-T c.322del p.D109Tfs*4 Frameshift 5/9 - 1
10-89692839-T-C c.323T>C p.L108P Missense 5/9 - 14
10-89692839-T-G c.323T>G p.L108R Missense 5/9 - 13
10-89692839-T-A c.323T>A p.L108H Missense 5/9 - 1
10-89692838-CT-C c.324del p.D109Tfs*4 Frameshift 5/9 - 1
10-89692840-T-TG c.325dup p.D109Gfs*6 Frameshift 5/9 - 1
10-89692841-G-A c.325G>A p.D109N Missense 5/9 - 1
10-89692841-GAC-TAA c.325_327delinsTAA p.D109* Nonsense 5/9 - 1
10-89692842-A-C c.326A>C p.D109A Missense 5/9 - 1
10-89692844-C-T c.328C>T p.Q110* Nonsense 5/9 - 13
10-89692844-C-A c.328C>A p.Q110K Missense 5/9 - 2
10-89692844-CCA-C c.328_329del p.Q110Mfs*4 Frameshift 5/9 - 1
10-89692842-A-AC c.328dup p.Q110Pfs*5 Frameshift 5/9 - 1
10-89692844-C-G c.328C>G p.Q110E Missense 5/9 - 2
10-89692845-A-G c.329A>G p.Q110R Missense 5/9 - 3
10-89692844-CA-C c.330del p.Q110Hfs*3 Frameshift 5/9 - 1
10-89692846-A-C c.330A>C p.Q110H Missense 5/9 - 1
10-89692847-TGG-CAT c.331_333delinsCAT p.W111H Missense 5/9 - 2
10-89692847-T-A c.331T>A p.W111R Missense 5/9 - 3
10-89692847-T-C c.331T>C p.W111R Missense 5/9 - 3
10-89692848-G-A c.332G>A p.W111* Nonsense 5/9 - 9
10-89692849-G-A c.333G>A p.W111* Nonsense 5/9 - 10
10-89692849-G-T c.333G>T p.W111C Missense 5/9 - 1
10-89692849-G-C c.333G>C p.W111C Missense 5/9 - 1
10-89692850-C-G c.334C>G p.L112V Missense 5/9 - 9
10-89692850-GCTAAGTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAAC-G c.334_392del p.L112Wfs*48 InFrameDeletion 5/9 - 1
10-89692850-C-A c.334C>A p.L112I Missense 5/9 - 1
10-89692851-T-G c.335T>G p.L112R Missense 5/9 - 4
10-89692851-T-C c.335T>C p.L112P Missense 5/9 - 9
10-89692851-T-A c.335T>A p.L112Q Missense 5/9 - 2
10-89692852-A-AT c.336_337insT p.S113* Nonsense 5/9 - 1
10-89692850-CTAAGTGAAGATGACAATCATGT-C c.336_357del p.S113Qfs*14 Frameshift 5/9 - 1
10-89692853-AGT-GAG c.337_339delinsGAG p.S113E Missense 5/9 - 1
10-89692853-AG-GC c.337_338delinsGC p.S113A Missense 5/9 - 2
10-89692853-A-G c.337A>G p.S113G Missense 5/9 - 1
10-89692854-G-A c.338G>A p.S113N Missense 5/9 - 1
10-89692854-G-C c.338G>C p.S113T Missense 5/9 - 1
10-89692855-T-G c.339T>G p.S113R Missense 5/9 - 1
10-89692855-T-A c.339T>A p.S113R Missense 5/9 - 1
10-89692853-A-C c.337A>C p.S113R Missense 5/9 - 1
10-89692856-G-T c.340G>T p.E114* Nonsense 5/9 - 2
10-89692857-A-G c.341A>G p.E114G Missense 5/9 - 1
10-89692857-GAAGAT-G c.341_345del p.E114Gfs*10 Frameshift 5/9 - 1
10-89692858-A-C c.342A>C p.E114D Missense 5/9 - 1
10-89692858-A-T c.342A>T p.E114D Missense 5/9 - 1
10-89692858-AAGATGACAAT-A c.342_351del p.E114Dfs*17 Frameshift 5/9 - 1
10-89692859-G-A c.343G>A p.D115N Missense 5/9 - 3
10-89692860-A-C c.344A>C p.D115A Missense 5/9 - 1
10-89692861-T-C c.345T>C p.D115= Synonymous 5/9 - 1
10-89692862-TG-T c.346del p.D116Tfs*18 Frameshift 5/9 - 1
10-89692863-A-G c.347A>G p.D116G Missense 5/9 - 1
10-89692864-C-G c.348C>G p.D116E Missense 5/9 - 1
10-89692864-C-CT c.348_349insT p.N117* Nonsense 5/9 - 1
10-89692862-GACAATC-G c.348_353del p.N117_H118del InFrameDeletion 5/9 - 1
10-89692865-A-G c.349A>G p.N117D Missense 5/9 - 1
10-89692866-A-G c.350A>G p.N117S Missense 5/9 - 1
10-89692868-C-A c.352C>A p.H118N Missense 5/9 - 1
10-89692868-C-T c.352C>T p.H118Y Missense 5/9 - 2
10-89692869-A-C c.353A>C p.H118P Missense 5/9 - 7
10-89692866-ATCATGTTGCAGCAAT-A c.354_368del p.V119_H123del InFrameDeletion 5/9 - 1
10-89692870-ATGTTGCAGC-A c.354_362del p.H118_A121delinsQ MultiAAMissense 5/9 - 1
10-89692871-G-C c.355G>C p.V119L Missense 5/9 - 3
10-89692871-G-T c.355G>T p.V119F Missense 5/9 - 3
10-89692871-TG-T c.355del p.V119Lfs*15 Frameshift 5/9 - 2
10-89692871-G-A c.355G>A p.V119I Missense 5/9 - 1
10-89692872-T-C c.356T>C p.V119A Missense 5/9 - 2
10-89692872-T-A c.356T>A p.V119D Missense 5/9 - 1
10-89692874-G-A c.358G>A p.A120T Missense 5/9 - 2
10-89692874-G-C c.358G>C p.A120P Missense 5/9 - 2
10-89692875-C-T c.359C>T p.A120V Missense 5/9 - 1
10-89692875-GCAGC-G c.359_362del p.A120Efs*13 Frameshift 5/9 - 1
10-89692875-C-A c.359C>A p.A120E Missense 5/9 - 2
10-89692876-A-C c.360A>C p.A120= Synonymous 5/9 - 1
10-89692876-A-G c.360A>G p.A120= Synonymous 5/9 - 1
10-89692876-A-T c.360A>T p.A120= Synonymous 5/9 - 1
10-89692877-G-C c.361G>C p.A121P Missense 5/9 - 1
10-89692877-G-A c.361G>A p.A121T Missense 5/9 - 1
10-89692877-G-T c.361G>T p.A121S Missense 5/9 - 1
10-89692878-C-A c.362C>A p.A121E Missense 5/9 - 3
10-89692878-C-G c.362C>G p.A121G Missense 5/9 - 1
10-89692878-C-T c.362C>T p.A121V Missense 5/9 - 1
10-89692880-A-C c.364A>C p.I122L Missense 5/9 - 1
10-89692880-A-G c.364A>G p.I122V Missense 5/9 - 2
10-89692880-AATTCACTGTAAAGC-A c.364_377del p.I122Wfs*53 Frameshift 5/9 - 1
10-89692881-T-G c.365T>G p.I122S Missense 5/9 - 3
10-89692881-T-A c.365T>A p.I122N Missense 5/9 - 3
10-89692881-T-C c.365T>C p.I122T Missense 5/9 - 1
10-89692883-C-T c.367C>T p.H123Y Missense 5/9 - 14
10-89692883-C-G c.367C>G p.H123D Missense 5/9 - 6
10-89692884-A-T c.368A>T p.H123L Missense 5/9 - 2
10-89692884-A-G c.368A>G p.H123R Missense 5/9 - 3
10-89692884-A-C c.368A>C p.H123P Missense 5/9 - 1
10-89692885-C-G c.369C>G p.H123Q Missense 5/9 - 6
10-89692885-C-T c.369C>T p.H123= Synonymous 5/9 - 2
10-89692885-C-A c.369C>A p.H123Q Missense 5/9 - 4
10-89692886-T-A c.370T>A p.C124S Missense 5/9 - 93
10-89692887-G-C c.371G>C p.C124S Missense 5/9 - 285
10-89692886-T-C c.370T>C p.C124R Missense 5/9 - 18
10-89692886-T-G c.370T>G p.C124G Missense 5/9 - 5
10-89692886-TG-AA c.370_371delinsAA p.C124N Missense 5/9 - 1
10-89692886-TG-GC c.370_371delinsGC p.C124A Missense 5/9 - 12
10-89692886-TG-AC c.370_371delinsAC p.C124T Missense 5/9 - 1
10-89692887-G-A c.371G>A p.C124Y Missense 5/9 - 6
10-89692887-G-T c.371G>T p.C124F Missense 5/9 - 2
10-89692888-T-C c.372T>C p.C124= Synonymous 5/9 - 1
10-89692887-G-GT c.372dup p.K125* Nonsense 5/9 - 1
10-89692888-T-G c.372T>G p.C124W Missense 5/9 - 1
10-89692889-A-G c.373A>G p.K125E Missense 5/9 - 8
10-89692889-AA-CT c.373_374delinsCT p.K125L Missense 5/9 - 2
10-89692889-A-T c.373A>T p.K125* Nonsense 5/9 - 1
10-89692890-A-C c.374A>C p.K125T Missense 5/9 - 2
10-89692890-AA-TG c.374_375delinsTG p.K125M Missense 5/9 - 1
10-89692890-A-G c.374A>G p.K125R Missense 5/9 - 2
10-89692891-A-C c.375A>C p.K125N Missense 5/9 - 2
10-89692891-A-T c.375A>T p.K125N Missense 5/9 - 2
10-89692888-T-TA c.375dup p.A126Sfs*54 Frameshift 5/9 - 1
10-89692892-G-C c.376G>C p.A126P Missense 5/9 - 5
10-89692892-G-T c.376G>T p.A126S Missense 5/9 - 10
10-89692892-G-A c.376G>A p.A126T Missense 5/9 - 20
10-89692893-C-A c.377C>A p.A126D Missense 5/9 - 7
10-89692893-C-G c.377C>G p.A126G Missense 5/9 - 11
10-89692893-C-T c.377C>T p.A126V Missense 5/9 - 9
10-89692893-GC-G c.377del p.A126Vfs*8 Frameshift 5/9 - 1
10-89692895-G-A c.379G>A p.G127R Missense 5/9 - 10
10-89692895-G-C c.379G>C p.G127R Missense 5/9 - 6
10-89692895-GGA-AAC c.379_381delinsAAC p.G127N Missense 5/9 - 1
10-89692896-G-A c.380G>A p.G127E Missense 5/9 - 12
10-89692894-TG-T c.380del p.G127Efs*7 Frameshift 5/9 - 1
10-89692896-G-T c.380G>T p.G127V Missense 5/9 - 6
10-89692896-G-C c.380G>C p.G127A Missense 5/9 - 1
10-89692894-TGGAAAGG-T c.380_386del p.G127Dfs*5 Frameshift 5/9 - 1
10-89692897-GAAAGGGA-G c.381_387del p.K128Efs*4 Frameshift 5/9 - 1
10-89692898-A-T c.382A>T p.K128* Nonsense 5/9 - 1
10-89692898-A-C c.382A>C p.K128Q Missense 5/9 - 4
10-89692898-A-G c.382A>G p.K128E Missense 5/9 - 2
10-89692898-AAAGGGACGAACTGG-A c.382_395del p.K128Cfs*47 Frameshift 5/9 - 1
10-89692895-GGAAAGGGAC-G c.383_391del p.K128_R130del InFrameDeletion 5/9 - 4
10-89692899-A-G c.383A>G p.K128R Missense 5/9 - 4
10-89692899-A-C c.383A>C p.K128T Missense 5/9 - 3
10-89692900-G-C c.384G>C p.K128N Missense 5/9 - 7
10-89692900-G-T c.384G>T p.K128N Missense 5/9 - 7
10-89692901-G-A c.385G>A p.G129R Missense 5/9 - 69
10-89692901-G-C c.385G>C p.G129R Missense 5/9 - 68
10-89692901-G-T c.385G>T p.G129* Nonsense 5/9 - 8
10-89692901-G-GA c.385_386insA p.G129Efs*51 Frameshift 5/9 - 1
10-89692901-GGA-TGT c.385_387delinsTGT p.G129C Missense 5/9 - 1
10-89692901-GG-CA c.385_386delinsCA p.G129Q Missense 5/9 - 1
10-89692902-G-A c.386G>A p.G129E Missense 5/9 - 211
10-89692902-G-T c.386G>T p.G129V Missense 5/9 - 8
10-89692902-G-C c.386G>C p.G129A Missense 5/9 - 2
10-89692902-GA-AC c.386_387delinsAC p.G129D Missense 5/9 - 1
10-89692904-C-T c.388C>T p.R130* Nonsense 5/9 - 162
10-89692904-C-G c.388C>G p.R130G Missense 5/9 - 97
10-89692904-CG-GC c.388_389delinsGC p.R130A Missense 5/9 - 1
10-89692904-CG-AA c.388_389delinsAA p.R130K Missense 5/9 - 1
10-89692901-GGAC-G c.388_390del p.R130del InFrameDeletion 5/9 - 2
10-89692904-CGA-TGG c.388_390delinsTGG p.R130W Missense 5/9 - 1
10-89692904-CGA-ATG c.388_390delinsATG p.R130M Missense 5/9 - 1
10-89692904-CGA-TGT c.388_390delinsTGT p.R130C Missense 5/9 - 1
10-89692904-CG-GA c.388_389delinsGA p.R130E Missense 5/9 - 1
10-89692905-G-T c.389G>T p.R130L Missense 5/9 - 32
10-89692905-G-C c.389G>C p.R130P Missense 5/9 - 23
10-89692905-G-A c.389G>A p.R130Q Missense 5/9 - 154
10-89692905-CG-C c.389del p.R130Qfs*4 Frameshift 5/9 - 10
10-89692903-A-ACGCC c.389_390insCCCG p.T131Pfs*50 Frameshift 5/9 - 1
10-89692905-CGAACTGG-C c.389_395del p.R130Lfs*2 Frameshift 5/9 - 1
10-89692907-A-G c.391A>G p.T131A Missense 5/9 - 2
10-89692907-AC-CT c.391_392delinsCT p.T131L Missense 5/9 - 1
10-89692907-A-C c.391A>C p.T131P Missense 5/9 - 2
10-89692908-C-T c.392C>T p.T131I Missense 5/9 - 10
10-89692908-C-A c.392C>A p.T131N Missense 5/9 - 6
10-89692908-C-G c.392C>G p.T131S Missense 5/9 - 1
10-89692910-G-T c.394G>T p.G132C Missense 5/9 - 1
10-89692910-G-A c.394G>A p.G132S Missense 5/9 - 7
10-89692910-G-C c.394G>C p.G132R Missense 5/9 - 3
10-89692910-GG-TT c.394_395delinsTT p.G132F Missense 5/9 - 1
10-89692910-GGT-TGA c.394_396delinsTGA p.G132* Nonsense 5/9 - 1
10-89692911-G-A c.395G>A p.G132D Missense 5/9 - 20
10-89692911-G-T c.395G>T p.G132V Missense 5/9 - 12
10-89692911-G-C c.395G>C p.G132A Missense 5/9 - 3
10-89692908-CTGG-C c.395_397del p.G132del InFrameDeletion 5/9 - 1
10-89692912-GT-G c.396del p.V133* Frameshift 5/9 - 1
10-89692913-G-A c.397G>A p.V133I Missense 5/9 - 6
10-89692916-A-C c.400A>C p.M134L Missense 5/9 - 4
10-89692916-A-T c.400A>T p.M134L Missense 5/9 - 5
10-89692916-AT-TA c.400_401delinsTA p.M134* Nonsense 5/9 - 1
10-89692917-T-C c.401T>C p.M134T Missense 5/9 - 6
10-89692917-T-G c.401T>G p.M134R Missense 5/9 - 4
10-89692918-G-A c.402G>A p.M134I Missense 5/9 - 15
10-89692918-G-C c.402G>C p.M134I Missense 5/9 - 13
10-89692918-G-GT c.402_403insT p.I135Yfs*45 Frameshift 5/9 - 1
10-89692918-G-T c.402G>T p.M134I Missense 5/9 - 13
10-89692915-AATG-A c.402_404del p.M134del InFrameDeletion 5/9 - 5
10-89692918-TG-T c.402del p.M134Ifs*13 Frameshift 5/9 - 1
10-89692919-A-G c.403A>G p.I135V Missense 5/9 - 8
10-89692920-T-A c.404T>A p.I135K Missense 5/9 - 4
10-89692920-T-C c.404T>C p.I135T Missense 5/9 - 2
10-89692920-TA-AC c.404_405delinsAC p.I135N Missense 5/9 - 1
10-89692920-T-G c.404T>G p.I135R Missense 5/9 - 1
10-89692920-ATATGTG-A c.404_409del p.I135_A137delinsT MultiAAMissense 5/9 - 1
10-89692920-T-TA c.405dup p.C136Mfs*44 Frameshift 5/9 - 12
10-89692921-A-G c.405A>G p.I135M Missense 5/9 - 1
10-89692921-A-AT c.406dup p.C136Lfs*44 Frameshift 5/9 - 2
10-89692922-T-C c.406T>C p.C136R Missense 5/9 - 32
10-89692922-AT-A c.406del p.C136Vfs*11 Frameshift 5/9 - 1
10-89692922-T-G c.406T>G p.C136G Missense 5/9 - 1
10-89692922-TG-GC c.406_407delinsGC p.C136A Missense 5/9 - 1
10-89692923-G-A c.407G>A p.C136Y Missense 5/9 - 24
10-89692923-G-T c.407G>T p.C136F Missense 5/9 - 6
10-89692924-T-A c.408T>A p.C136* Nonsense 5/9 - 3
10-89692924-T-G c.408T>G p.C136W Missense 5/9 - 1
10-89692925-GCA-TTT c.409_411delinsTTT p.A137F Missense 5/9 - 1
10-89692925-TGCA-T c.409_411del p.A137del InFrameDeletion 5/9 - 1
10-89692925-G-T c.409G>T p.A137S Missense 5/9 - 1
10-89692925-G-A c.409G>A p.A137T Missense 5/9 - 1
10-89692926-GCATAT-G c.410_414del p.A137Vfs*41 Frameshift 5/9 - 1
10-89692926-C-T c.410C>T p.A137V Missense 5/9 - 1
10-89692928-TA-CT c.412_413delinsCT p.Y138L Missense 5/9 - 35
10-89692928-T-G c.412T>G p.Y138D Missense 5/9 - 1
10-89692929-A-G c.413A>G p.Y138C Missense 5/9 - 9
10-89692929-A-T c.413A>T p.Y138F Missense 5/9 - 2
10-89692929-TATTTATTA-T c.413_420del p.Y138Sfs*39 Frameshift 5/9 - 1
10-89692930-T-G c.414T>G p.Y138* Nonsense 5/9 - 3
10-89692930-T-A c.414T>A p.Y138* Nonsense 5/9 - 2
10-89692931-T-G c.415T>G p.L139V Missense 5/9 - 1
10-89692931-T-A c.415T>A p.L139I Missense 5/9 - 1
10-89692932-T-A c.416T>A p.L139* Nonsense 5/9 - 14
10-89692932-T-G c.416T>G p.L139* Nonsense 5/9 - 13
10-89692929-AT-A c.416del p.L139Yfs*8 Frameshift 5/9 - 2
10-89692933-A-T c.417A>T p.L139F Missense 5/9 - 2
10-89692933-A-C c.417A>C p.L139F Missense 5/9 - 2
10-89692935-T-G c.419T>G p.L140* Nonsense 5/9 - 3
10-89692935-T-C c.419T>C p.L140S Missense 5/9 - 1
10-89692935-T-A c.419T>A p.L140* Nonsense 5/9 - 2
10-89692936-A-C c.420A>C p.L140F Missense 5/9 - 6
10-89692936-A-T c.420A>T p.L140F Missense 5/9 - 3
10-89692935-T-TA c.420dup p.H141Tfs*39 Frameshift 5/9 - 3
10-89692937-C-T c.421C>T p.H141Y Missense 5/9 - 2
10-89692937-C-A c.421C>A p.H141N Missense 5/9 - 1
10-89692937-C-G c.421C>G p.H141D Missense 5/9 - 1
10-89692938-A-G c.422A>G p.H141R Missense 5/9 - 3
10-89692939-T-A c.423T>A p.H141Q Missense 5/9 - 1
10-89692936-ACATCGGGG-A c.423_430del p.H141Qfs*36 Frameshift 5/9 - 1
10-89692940-C-T c.424C>T p.R142W Missense 5/9 - 10
10-89692940-CGG-TGT c.424_426delinsTGT p.R142C Missense 5/9 - 1
10-89692941-GGGGCAAATTTTT-AAGGTAAGTTTTA c.425_437delinsAAGGTAAGTTTTA p.R142_L146delinsQGKF* MultiAAMissense 5/9 - 1
10-89692940-TCG-T c.424_425del p.R142Gfs*37 Frameshift 5/9 - 1
10-89692940-C-G c.424C>G p.R142G Missense 5/9 - 1
10-89692941-CGGGGCAAATTTTT-C c.425_437del p.R142Qfs*7 Frameshift 5/9 - 1
10-89692941-G-C c.425G>C p.R142P Missense 5/9 - 1
10-89692941-G-A c.425G>A p.R142Q Missense 5/9 - 5
10-89692941-G-T c.425G>T p.R142L Missense 5/9 - 1
10-89692943-G-A c.427G>A p.G143S Missense 5/9 - 1
10-89692943-GG-CA c.427_428delinsCA p.G143H Missense 5/9 - 1
10-89692944-G-A c.428G>A p.G143D Missense 5/9 - 4
10-89692940-CG-C c.428del p.G143Afs*4 Frameshift 5/9 - 2
10-89692946-A-T c.430A>T p.K144* Nonsense 5/9 - 2
10-89692946-A-C c.430A>C p.K144Q Missense 5/9 - 1
10-89692946-AAA-TAT c.430_432delinsTAT p.K144Y Missense 5/9 - 1
10-89692946-CAAATTT-C c.430_435del p.K144_F145del InFrameDeletion 5/9 - 1
10-89692947-A-G c.431A>G p.K144R Missense 5/9 - 1
10-89692947-A-C c.431A>C p.K144T Missense 5/9 - 1
10-89692948-A-C c.432A>C p.K144N Missense 5/9 - 1
10-89692948-A-T c.432A>T p.K144N Missense 5/9 - 1
10-89692949-T-G c.433T>G p.F145V Missense 5/9 - 1
10-89692949-T-A c.433T>A p.F145I Missense 5/9 - 2
10-89692947-AATTTTT-A c.433_438del p.F145_L146del InFrameDeletion 5/9 - 1
10-89692950-T-G c.434T>G p.F145C Missense 5/9 - 1
10-89692953-T-A c.437T>A p.L146* Nonsense 5/9 - 5
10-89692953-T-G c.437T>G p.L146* Nonsense 5/9 - 5
10-89692955-A-C c.439A>C p.K147Q Missense 5/9 - 1
10-89692955-A-T c.439A>T p.K147* Nonsense 5/9 - 1
10-89692956-A-G c.440A>G p.K147R Missense 5/9 - 3
10-89692953-TA-T c.440del p.K147Rfs*6 Frameshift 5/9 - 1
10-89692953-T-TA c.440dup p.A148Gfs*32 Frameshift 5/9 - 1
10-89692956-A-C c.440A>C p.K147T Missense 5/9 - 1
10-89692956-A-T c.440A>T p.K147M Missense 5/9 - 1
10-89692958-G-A c.442G>A p.A148T Missense 5/9 - 2
10-89692959-C-A c.443C>A p.A148E Missense 5/9 - 2
10-89692961-C-T c.445C>T p.Q149* Nonsense 5/9 - 18
10-89692961-C-A c.445C>A p.Q149K Missense 5/9 - 1
10-89692962-A-G c.446A>G p.Q149R Missense 5/9 - 1
10-89692961-CA-C c.447del p.E150Rfs*3 Frameshift 5/9 - 1
10-89692964-G-T c.448G>T p.E150* Nonsense 5/9 - 3
10-89692965-A-C c.449A>C p.E150A Missense 5/9 - 1
10-89692965-A-G c.449A>G p.E150G Missense 5/9 - 1
10-89692967-G-A c.451G>A p.A151T Missense 5/9 - 2
10-89692970-CTA-TTT c.454_456delinsTTT p.L152F Missense 5/9 - 1
10-89692967-GC-G c.454del p.L152* Frameshift 5/9 - 1
10-89692970-C-A c.454C>A p.L152I Missense 5/9 - 1
10-89692971-T-C c.455T>C p.L152P Missense 5/9 - 6
10-89692971-T-G c.455T>G p.L152R Missense 5/9 - 1
10-89692972-TAGATTTCTATGGG-T c.456_468del p.D153Kfs*2 Frameshift 5/9 - 1
10-89692973-G-A c.457G>A p.D153N Missense 5/9 - 1
10-89692973-G-T c.457G>T p.D153Y Missense 5/9 - 1
10-89692973-G-C c.457G>C p.D153H Missense 5/9 - 2
10-89692975-T-C c.459T>C p.D153= Synonymous 5/9 - 1
10-89692976-T-C c.460T>C p.F154L Missense 5/9 - 7
10-89692978-C-G c.462C>G p.F154L Missense 5/9 - 7
10-89692977-T-C c.461T>C p.F154S Missense 5/9 - 2
10-89692974-AT-A c.461del p.F154Sfs*5 Frameshift 5/9 - 1
10-89692977-T-G c.461T>G p.F154C Missense 5/9 - 2
10-89692978-C-A c.462C>A p.F154L Missense 5/9 - 8
10-89692979-T-C c.463T>C p.Y155H Missense 5/9 - 2
10-89692979-T-A c.463T>A p.Y155N Missense 5/9 - 3
10-89692980-A-G c.464A>G p.Y155C Missense 5/9 - 25
10-89692980-A-C c.464A>C p.Y155S Missense 5/9 - 5
10-89692980-A-T c.464A>T p.Y155F Missense 5/9 - 2
10-89692979-TATGGGGAAGTAAGG-T c.465_478del p.G156Qfs*19 Frameshift 5/9 - 1
10-89692982-G-A c.466G>A p.G156R Missense 5/9 - 3
10-89692982-G-C c.466G>C p.G156R Missense 5/9 - 2
10-89692983-G-C c.467G>C p.G156A Missense 5/9 - 1
10-89692984-G-GT c.468_469insT p.E157* Nonsense 5/9 - 2
10-89692981-T-TG c.469dup p.E157Gfs*23 Frameshift 5/9 - 4
10-89692985-G-T c.469G>T p.E157* Nonsense 5/9 - 7
10-89692985-G-A c.469G>A p.E157K Missense 5/9 - 1
10-89692981-TG-T c.469del p.E157Kfs*2 Frameshift 5/9 - 1
10-89692985-GGAAGTAAGGA-G c.469_478del p.E157Pfs*7 Frameshift 5/9 - 1
10-89692985-GAA-CAT c.469_471delinsCAT p.E157H Missense 5/9 - 1
10-89692986-A-G c.470A>G p.E157G Missense 5/9 - 5
10-89692987-A-C c.471A>C p.E157D Missense 5/9 - 1
10-89692987-A-T c.471A>T p.E157D Missense 5/9 - 1
10-89692988-GTA-TTT c.472_474delinsTTT p.V158F Missense 5/9 - 7
10-89692988-G-C c.472G>C p.V158L Missense 5/9 - 3
10-89692988-G-T c.472G>T p.V158L Missense 5/9 - 3
10-89692988-GTA-ATG c.472_474delinsATG p.V158M Missense 5/9 - 2
10-89692988-AG-A c.472del p.V158* Frameshift 5/9 - 1
10-89692989-T-A c.473T>A p.V158E Missense 5/9 - 1
10-89692989-T-C c.473T>C p.V158A Missense 5/9 - 1
10-89692991-A-G c.475A>G p.R159G Missense 5/9 - 3
10-89692991-AG-TA c.475_476delinsTA p.R159* Nonsense 5/9 - 2
10-89692991-A-T c.475A>T p.R159W Missense 5/9 - 1
10-89692992-G-A c.476G>A p.R159K Missense 5/9 - 9
10-89692992-G-T c.476G>T p.R159M Missense 5/9 - 1
10-89692992-G-GA c.476_477insA p.T160Dfs*20 Frameshift 5/9 - 1
10-89692992-G-C c.476G>C p.R159T Missense 5/9 - 2
10-89692993-G-T c.477G>T p.R159S Missense 5/9 - 12
10-89692993-G-C c.477G>C p.R159S Missense 5/9 - 6
10-89692994-A-C c.478A>C p.T160P Missense 5/9 - 2
10-89692995-C-T c.479C>T p.T160I Missense 5/9 - 1
10-89692995-C-CCT c.480_481insTC p.R161Sfs*7 Frameshift 5/9 - 1
10-89692996-C-CT c.480_481insT p.R161* Nonsense 5/9 - 1
10-89692997-CA-C c.481del p.R161Efs*6 Frameshift 5/9 - 1
10-89692997-A-G c.481A>G p.R161G Missense 5/9 - 2
10-89692997-AG-GA c.481_482delinsGA p.R161E Missense 5/9 - 2
10-89692997-AG-GC c.481_482delinsGC p.R161A Missense 5/9 - 4
10-89692998-G-A c.482G>A p.R161K Missense 5/9 - 1
10-89693000-G-C c.484G>C p.D162H Missense 5/9 - 4
10-89693000-GAC-TAA c.484_486delinsTAA p.D162* Nonsense 5/9 - 1
10-89693000-G-T c.484G>T p.D162Y Missense 5/9 - 2
10-89692999-A-AG c.484dup p.D162Gfs*18 Frameshift 5/9 - 1
10-89693001-A-T c.485A>T p.D162V Missense 5/9 - 1
10-89693001-A-G c.485A>G p.D162G Missense 5/9 - 2
10-89693002-C-G c.486C>G p.D162E Missense 5/9 - 2
10-89693002-C-A c.486C>A p.D162E Missense 5/9 - 1
10-89693002-AC-A c.486del p.D162Efs*5 Frameshift 5/9 - 1
10-89693002-C-CT c.486_487insT p.K163* Nonsense 5/9 - 1
10-89693003-A-T c.487A>T p.K163* Nonsense 5/9 - 1
10-89693003-AA-GC c.487_488delinsGC p.K163A Missense 5/9 - 2
10-89693003-A-G c.487A>G p.K163E Missense 5/9 - 1
10-89693004-A-G c.488A>G p.K163R Missense 5/9 - 3
10-89693004-AA-TG c.488_489delinsTG p.K163M Missense 5/9 - 1
10-89693005-A-AT c.489_490insT p.K164* Nonsense 5/9 - 3
10-89693005-AAAAG-A c.489_492del p.K164Efs*2 SpliceDonorDeletion 5/9 - 1
10-89693006-AA-GC c.490_491delinsGC p.K164A Missense 5/9 - 6
10-89693006-A-G c.490A>G p.K164E Missense 5/9 - 5
10-89693002-CA-C c.491del p.K164Rfs*3 Frameshift 5/9 - 7
10-89693004-AAAAGGT-A c.491_492+4del - SpliceDonorDeletion 5/9 5/8 1
10-89693007-A-G c.491A>G p.K164R Missense 5/9 - 1
10-89693008-G-C c.492G>C p.K164N Missense 5/9 - 4
10-89693008-G-T c.492G>T p.K164N Missense 5/9 - 4
10-89693008-AGGT-A c.492_492+2del - SpliceDonorDeletion 5/9 5/8 1
10-89693009-G-A c.492+1G>A - IntronicSNV - 5/8 1
10-89693009-G-T c.492+1G>T - IntronicSNV - 5/8 2
10-89693005-AAAGGT-A c.492+1_492+5del - SpliceDonorDeletion - 5/8 1
10-89693007-AG-A c.492+1del - IntronicDeletion - 5/8 2
10-89693009-G-C c.492+1G>C - IntronicSNV - 5/8 1
10-89693010-T-G c.492+2T>G - IntronicSNV - 5/8 1
10-89693031-T-G c.492+23T>G - IntronicSNV - 5/8 1
10-89697353-C-T c.492+4345C>T - IntronicSNV - 5/8 1
10-89698190-C-A c.492+5182C>A - IntronicSNV - 5/8 3
10-89700671-G-A c.492+7663G>A - IntronicSNV - 5/8 10
10-89700671-G-C c.492+7663G>C - IntronicSNV - 5/8 10
10-89704719-A-G c.493-7156A>G - IntronicSNV - 5/8 7
10-89705429-G-C c.493-6446G>C - IntronicSNV - 5/8 15
10-89707265-T-C c.493-4610T>C - IntronicSNV - 5/8 3
10-89707265-T-G c.493-4610T>G - IntronicSNV - 5/8 3
10-89709416-T-C c.493-2459T>C - IntronicSNV - 5/8 2
10-89711873-A-C c.493-2A>C - IntronicSNV - 5/8 1
10-89711873-A-G c.493-2A>G - IntronicSNV - 5/8 1
10-89711873-A-T c.493-2A>T - IntronicSNV - 5/8 1
10-89711874-G-A c.493-1G>A - IntronicSNV - 5/8 2
10-89711875-G-T c.493G>T p.G165* Nonsense 6/9 - 6
10-89711875-G-A c.493G>A p.G165R Missense 6/9 - 14
10-89711875-G-C c.493G>C p.G165R Missense 6/9 - 11
10-89711875-GG-AT c.493_494delinsAT p.G165I Missense 6/9 - 1
10-89711876-G-A c.494G>A p.G165E Missense 6/9 - 18
10-89711876-G-T c.494G>T p.G165V Missense 6/9 - 5
10-89711876-G-GA c.495dup p.V166Sfs*14 Frameshift 6/9 - 2
10-89711877-A-T c.495A>T p.G165= Synonymous 6/9 - 1
10-89711878-GT-CA c.496_497delinsCA p.V166Q Missense 6/9 - 1
10-89711878-G-C c.496G>C p.V166L Missense 6/9 - 1
10-89711878-G-T c.496G>T p.V166L Missense 6/9 - 1
10-89711878-G-A c.496G>A p.V166I Missense 6/9 - 1
10-89711876-GAGTA-G c.496_499del p.V166Lfs*16 Frameshift 6/9 - 1
10-89711879-T-G c.497T>G p.V166G Missense 6/9 - 1
10-89711879-T-A c.497T>A p.V166E Missense 6/9 - 4
10-89711879-T-C c.497T>C p.V166A Missense 6/9 - 1
10-89711878-G-GT c.497dup p.T167Nfs*13 Frameshift 6/9 - 1
10-89711881-A-G c.499A>G p.T167A Missense 6/9 - 13
10-89711879-TA-T c.499del p.T167Lfs*16 Frameshift 6/9 - 1
10-89711881-AACTATTC-A c.499_505del p.T167Pfs*14 Frameshift 6/9 - 2
10-89711879-T-TA c.499dup p.T167Nfs*13 Frameshift 6/9 - 1
10-89711882-C-G c.500C>G p.T167S Missense 6/9 - 3
10-89711882-C-A c.500C>A p.T167N Missense 6/9 - 8
10-89711882-C-T c.500C>T p.T167I Missense 6/9 - 2
10-89711881-A-T c.499A>T p.T167S Missense 6/9 - 2
10-89711884-A-T c.502A>T p.I168F Missense 6/9 - 1
10-89711884-A-C c.502A>C p.I168L Missense 6/9 - 1
10-89711884-A-G c.502A>G p.I168V Missense 6/9 - 1
10-89711885-T-C c.503T>C p.I168T Missense 6/9 - 1
10-89711887-CC-GG c.505_506inv p.P169G Missense 6/9 - 1
10-89711887-C-T c.505C>T p.P169S Missense 6/9 - 1
10-89711887-CCC-TGG c.505_507delinsTGG p.P169W Missense 6/9 - 1
10-89711888-C-T c.506C>T p.P169L Missense 6/9 - 1
10-89711888-C-A c.506C>A p.P169H Missense 6/9 - 2
10-89711888-C-G c.506C>G p.P169R Missense 6/9 - 1
10-89711886-TC-T c.507del p.S170Vfs*13 Frameshift 6/9 - 1
10-89711890-A-G c.508A>G p.S170G Missense 6/9 - 2
10-89711891-G-T c.509G>T p.S170I Missense 6/9 - 8
10-89711891-G-A c.509G>A p.S170N Missense 6/9 - 12
10-89711891-G-C c.509G>C p.S170T Missense 6/9 - 2
10-89711892-T-G c.510T>G p.S170R Missense 6/9 - 13
10-89711892-T-A c.510T>A p.S170R Missense 6/9 - 12
10-89711890-A-C c.508A>C p.S170R Missense 6/9 - 7
10-89711892-GTCAGA-G c.510_514del p.S170Rfs*8 Frameshift 6/9 - 1
10-89711893-C-G c.511C>G p.Q171E Missense 6/9 - 8
10-89711893-C-T c.511C>T p.Q171* Nonsense 6/9 - 27
10-89711893-C-A c.511C>A p.Q171K Missense 6/9 - 4
10-89711893-CA-GC c.511_512delinsGC p.Q171A Missense 6/9 - 3
10-89711894-A-G c.512A>G p.Q171R Missense 6/9 - 3
10-89711894-A-C c.512A>C p.Q171P Missense 6/9 - 1
10-89711895-G-T c.513G>T p.Q171H Missense 6/9 - 3
10-89711895-G-A c.513G>A p.Q171= Synonymous 6/9 - 1
10-89711895-G-C c.513G>C p.Q171H Missense 6/9 - 2
10-89711896-AGG-CAT c.514_516delinsCAT p.R172H Missense 6/9 - 137
10-89711896-AG-CC c.514_515delinsCC p.R172P Missense 6/9 - 6
10-89711896-A-T c.514A>T p.R172W Missense 6/9 - 1
10-89711896-AGG-TGT c.514_516delinsTGT p.R172C Missense 6/9 - 2
10-89711896-A-G c.514A>G p.R172G Missense 6/9 - 2
10-89711894-AGAGGCGCTAT-A c.514_523del p.R172Cfs*8 Frameshift 6/9 - 1
10-89711897-G-A c.515G>A p.R172K Missense 6/9 - 2
10-89711897-AGGCGCT-A c.515_520del p.R172_Y174delinsN MultiAAMissense 6/9 - 1
10-89711898-G-C c.516G>C p.R172S Missense 6/9 - 1
10-89711898-G-T c.516G>T p.R172S Missense 6/9 - 1
10-89711899-C-T c.517C>T p.R173C Missense 6/9 - 74
10-89711899-C-A c.517C>A p.R173S Missense 6/9 - 5
10-89711899-CG-GC c.517_518delinsGC p.R173A Missense 6/9 - 1
10-89711899-CGC-TGA c.517_519delinsTGA p.R173* Nonsense 6/9 - 1
10-89711900-G-T c.518G>T p.R173L Missense 6/9 - 7
10-89711900-G-A c.518G>A p.R173H Missense 6/9 - 57
10-89711900-G-C c.518G>C p.R173P Missense 6/9 - 10
10-89711902-T-A c.520T>A p.Y174N Missense 6/9 - 5
10-89711902-T-C c.520T>C p.Y174H Missense 6/9 - 1
10-89711902-T-G c.520T>G p.Y174D Missense 6/9 - 2
10-89711901-C-CT c.520dup p.Y174Lfs*6 Frameshift 6/9 - 1
10-89711903-A-G c.521A>G p.Y174C Missense 6/9 - 3
10-89711903-A-T c.521A>T p.Y174F Missense 6/9 - 2
10-89711905-G-A c.523G>A p.V175M Missense 6/9 - 3
10-89711905-G-T c.523G>T p.V175L Missense 6/9 - 3
10-89711905-G-C c.523G>C p.V175L Missense 6/9 - 3
10-89711906-T-A c.524T>A p.V175E Missense 6/9 - 1
10-89711906-T-C c.524T>C p.V175A Missense 6/9 - 3
10-89711903-ATG-A c.525_526del p.Y176Lfs*3 Frameshift 6/9 - 1
10-89711905-GTGTATTA-G c.525_531del p.Y176Ifs*5 Frameshift 6/9 - 1
10-89711909-A-G c.527A>G p.Y176C Missense 6/9 - 11
10-89711910-T-G c.528T>G p.Y176* Nonsense 6/9 - 5
10-89711910-T-A c.528T>A p.Y176* Nonsense 6/9 - 2
10-89711911-T-C c.529T>C p.Y177H Missense 6/9 - 1
10-89711911-T-A c.529T>A p.Y177N Missense 6/9 - 1
10-89711911-TA-AC c.529_530delinsAC p.Y177T Missense 6/9 - 1
10-89711912-A-G c.530A>G p.Y177C Missense 6/9 - 1
10-89711912-A-T c.530A>T p.Y177F Missense 6/9 - 2
10-89711911-T-TA c.530dup p.Y177* Nonsense 6/9 - 1
10-89711913-T-C c.531T>C p.Y177= Synonymous 6/9 - 1
10-89711913-T-G c.531T>G p.Y177* Nonsense 6/9 - 2
10-89711910-TTATTA-T c.531_535del p.Y177* Frameshift 6/9 - 1
10-89711907-GTAT-G c.532_534del p.Y178del InFrameDeletion 6/9 - 4
10-89711915-A-G c.533A>G p.Y178C Missense 6/9 - 2
10-89711915-A-T c.533A>T p.Y178F Missense 6/9 - 1
10-89711916-T-A c.534T>A p.Y178* Nonsense 6/9 - 2
10-89711916-T-G c.534T>G p.Y178* Nonsense 6/9 - 7
10-89711917-AG-GC c.535_536delinsGC p.S179A Missense 6/9 - 1
10-89711917-A-T c.535A>T p.S179C Missense 6/9 - 1
10-89711920-T-C c.538T>C p.Y180H Missense 6/9 - 2
10-89711920-TAC-GAG c.538_540delinsGAG p.Y180E Missense 6/9 - 1
10-89711920-T-A c.538T>A p.Y180N Missense 6/9 - 1
10-89711921-A-T c.539A>T p.Y180F Missense 6/9 - 2
10-89711921-A-G c.539A>G p.Y180C Missense 6/9 - 1
10-89711922-C-A c.540C>A p.Y180* Nonsense 6/9 - 6
10-89711922-C-G c.540C>G p.Y180* Nonsense 6/9 - 2
10-89711921-AC-A c.541del p.L181Cfs*2 Frameshift 6/9 - 1
10-89711923-C-A c.541C>A p.L181M Missense 6/9 - 1
10-89711924-T-C c.542T>C p.L181P Missense 6/9 - 6
10-89711924-T-A c.542T>A p.L181Q Missense 6/9 - 1
10-89711926-T-G c.544T>G p.L182V Missense 6/9 - 2
10-89711927-T-C c.545T>C p.L182S Missense 6/9 - 5
10-89711928-A-T c.546A>T p.L182F Missense 6/9 - 2
10-89711928-A-C c.546A>C p.L182F Missense 6/9 - 2
10-89711928-A-AT c.546_547insT p.K183* Nonsense 6/9 - 1
10-89711927-TA-T c.548del p.K183Rfs*16 Frameshift 6/9 - 1
10-89711927-TAAAG-T c.548_551del p.K183Ifs*15 Frameshift 6/9 - 1
10-89711930-A-G c.548A>G p.K183R Missense 6/9 - 2
10-89711927-T-TA c.548dup p.N184Efs*6 Frameshift 6/9 - 3
10-89711930-A-AG c.549dup p.N184Efs*6 Frameshift 6/9 - 2
10-89711931-G-T c.549G>T p.K183N Missense 6/9 - 2
10-89711931-G-GT c.549_550insT p.N184* Nonsense 6/9 - 1
10-89711931-G-A c.549G>A p.K183= Synonymous 6/9 - 1
10-89711931-G-GA c.551dup p.N184Kfs*6 Frameshift 6/9 - 1
10-89711935-C-T c.553C>T p.H185Y Missense 6/9 - 2
10-89711935-C-G c.553C>G p.H185D Missense 6/9 - 2
10-89711934-TCATCTGGATTATAGAC-T c.555_570del p.H185Qfs*9 Frameshift 6/9 - 2
10-89711935-CATCTGGATTAT-C c.555_565del p.H185Qfs*13 Frameshift 6/9 - 1
10-89711940-G-A c.558G>A p.L186= Synonymous 6/9 - 1
10-89711941-G-A c.559G>A p.D187N Missense 6/9 - 1
10-89711944-T-C c.562T>C p.Y188H Missense 6/9 - 2
10-89711945-A-G c.563A>G p.Y188C Missense 6/9 - 1
10-89711945-A-T c.563A>T p.Y188F Missense 6/9 - 1
10-89711946-T-A c.564T>A p.Y188* Nonsense 6/9 - 1
10-89711946-T-G c.564T>G p.Y188* Nonsense 6/9 - 1
10-89711947-A-T c.565A>T p.R189* Nonsense 6/9 - 5
10-89711947-A-C c.565A>C p.R189= Synonymous 6/9 - 1
10-89711948-G-A c.566G>A p.R189K Missense 6/9 - 2
10-89711948-G-C c.566G>C p.R189T Missense 6/9 - 1
10-89711948-AG-A c.566del p.R189Nfs*10 Frameshift 6/9 - 1
10-89711949-A-C c.567A>C p.R189S Missense 6/9 - 1
10-89711949-A-T c.567A>T p.R189S Missense 6/9 - 1
10-89711950-C-G c.568C>G p.P190A Missense 6/9 - 4
10-89711950-ACCAGT-A c.568_572del p.P190Gfs*10 Frameshift 6/9 - 1
10-89711951-C-T c.569C>T p.P190L Missense 6/9 - 3
10-89711949-A-AC c.569dup p.V191Sfs*11 Frameshift 6/9 - 1
10-89711949-AC-A c.569del p.P190Qfs*9 Frameshift 6/9 - 1
10-89711953-GT-TC c.571_572delinsTC p.V191S Missense 6/9 - 1
10-89711952-AGTG-A c.572_574del p.V191del InFrameDeletion 6/9 - 1
10-89711954-T-G c.572T>G p.V191G Missense 6/9 - 1
10-89711954-T-C c.572T>C p.V191A Missense 6/9 - 1
10-89711956-G-A c.574G>A p.A192T Missense 6/9 - 1
10-89711959-ACTGTT-A c.577_581del p.L193Vfs*7 Frameshift 6/9 - 1
10-89711960-CT-C c.578del p.L193Rfs*6 Frameshift 6/9 - 1
10-89711961-G-T c.579G>T p.L193= Synonymous 6/9 - 1
10-89711961-G-A c.579G>A p.L193= Synonymous 6/9 - 1
10-89711961-G-C c.579G>C p.L193= Synonymous 6/9 - 1
10-89711959-C-T c.577C>T p.L193= Synonymous 6/9 - 1
10-89711962-TT-AG c.580_581delinsAG p.L194R Missense 6/9 - 1
10-89711963-TTGTTTC-T c.581_586del p.L194_H196delinsY MultiAAMissense 6/9 - 1
10-89711964-G-T c.582G>T p.L194F Missense 6/9 - 1
10-89711964-G-C c.582G>C p.L194F Missense 6/9 - 1
10-89711965-T-A c.583T>A p.F195I Missense 6/9 - 1
10-89711965-T-C c.583T>C p.F195L Missense 6/9 - 1
10-89711967-T-A c.585T>A p.F195L Missense 6/9 - 1
10-89711967-T-G c.585T>G p.F195L Missense 6/9 - 1
10-89711965-TTTCACAAGATGATGTTTGAAACTA-T c.587_610del p.H196_I203del InFrameDeletion 6/9 - 1
10-89711969-CACAAGATGAT-C c.587_596del p.H196Rfs*22 Frameshift 6/9 - 1
10-89711970-C-CT c.588_589insT p.K197* Nonsense 6/9 - 1
10-89711971-A-T c.589A>T p.K197* Nonsense 6/9 - 1
10-89711970-CA-C c.590del p.K197Rfs*2 Frameshift 6/9 - 1
10-89711972-A-T c.590A>T p.K197M Missense 6/9 - 2
10-89711972-A-G c.590A>G p.K197R Missense 6/9 - 1
10-89711974-GA-G c.592del p.M198* Frameshift 6/9 - 1
10-89711974-A-G c.592A>G p.M198V Missense 6/9 - 1
10-89711973-G-GAA c.592_593insAA p.M198Kfs*2 Frameshift 6/9 - 1
10-89711975-T-C c.593T>C p.M198T Missense 6/9 - 1
10-89711975-T-A c.593T>A p.M198K Missense 6/9 - 5
10-89711975-T-G c.593T>G p.M198R Missense 6/9 - 1
10-89711976-G-C c.594G>C p.M198I Missense 6/9 - 1
10-89711976-G-A c.594G>A p.M198I Missense 6/9 - 1
10-89711976-G-T c.594G>T p.M198I Missense 6/9 - 1
10-89711977-A-G c.595A>G p.M199V Missense 6/9 - 1
10-89711972-AGAT-A c.595_597del p.M199del InFrameDeletion 6/9 - 1
10-89711978-T-G c.596T>G p.M199R Missense 6/9 - 4
10-89711978-T-C c.596T>C p.M199T Missense 6/9 - 1
10-89711980-TT-GC c.598_599delinsGC p.F200A Missense 6/9 - 1
10-89711980-T-A c.598T>A p.F200I Missense 6/9 - 1
10-89711981-T-C c.599T>C p.F200S Missense 6/9 - 1
10-89711981-T-G c.599T>G p.F200C Missense 6/9 - 1
10-89711982-T-C c.600T>C p.F200= Synonymous 6/9 - 1
10-89711983-G-T c.601G>T p.E201* Nonsense 6/9 - 5
10-89711983-G-A c.601G>A p.E201K Missense 6/9 - 2
10-89711983-G-C c.601G>C p.E201Q Missense 6/9 - 1
10-89711985-A-C c.603A>C p.E201D Missense 6/9 - 1
10-89711985-A-T c.603A>T p.E201D Missense 6/9 - 1
10-89711986-A-T c.604A>T p.T202S Missense 6/9 - 1
10-89711983-G-GA c.604dup p.T202Nfs*41 Frameshift 6/9 - 1
10-89711986-AC-TA c.604_605delinsTA p.T202Y Missense 6/9 - 1
10-89711986-ACT-TAA c.604_606delinsTAA p.T202* Nonsense 6/9 - 1
10-89711986-AC-TG c.604_605delinsTG p.T202C Missense 6/9 - 1
10-89711987-C-T c.605C>T p.T202I Missense 6/9 - 8
10-89711988-T-G c.606T>G p.T202= Synonymous 6/9 - 3
10-89711987-CTA-C c.607_608del p.I203Sfs*39 Frameshift 6/9 - 1
10-89711991-TTCCAATGTTCAGTGGCG-T c.609_625del p.I203Mfs*34 Frameshift 6/9 - 1
10-89711992-C-G c.610C>G p.P204A Missense 6/9 - 4
10-89711992-C-T c.610C>T p.P204S Missense 6/9 - 5
10-89711993-C-T c.611C>T p.P204L Missense 6/9 - 3
10-89711991-TC-T c.611del p.P204Qfs*17 Frameshift 6/9 - 1
10-89711993-CA-C c.613del p.M205Cfs*16 Frameshift 6/9 - 1
10-89711995-A-G c.613A>G p.M205V Missense 6/9 - 4
10-89711995-AT-GC c.613_614delinsGC p.M205A Missense 6/9 - 2
10-89711997-G-C c.615G>C p.M205I Missense 6/9 - 2
10-89711997-G-A c.615G>A p.M205I Missense 6/9 - 2
10-89711997-G-T c.615G>T p.M205I Missense 6/9 - 2
10-89712000-TC-T c.618del p.F206Lfs*15 Frameshift 6/9 - 2
10-89712000-C-CT c.618_619insT p.S207* Nonsense 6/9 - 1
10-89712000-TCA-T c.618_619del p.F206Lfs*36 Frameshift 6/9 - 1
10-89712001-AG-GC c.619_620delinsGC p.S207A Missense 6/9 - 1
10-89712001-A-T c.619A>T p.S207C Missense 6/9 - 1
10-89712002-G-A c.620G>A p.S207N Missense 6/9 - 2
10-89712003-T-G c.621T>G p.S207R Missense 6/9 - 2
10-89712001-A-C c.619A>C p.S207R Missense 6/9 - 2
10-89712003-T-A c.621T>A p.S207R Missense 6/9 - 2
10-89712004-G-C c.622G>C p.G208R Missense 6/9 - 1
10-89712004-G-GT c.622_623insT p.G208Vfs*35 Frameshift 6/9 - 1
10-89712007-G-T c.625G>T p.G209* Nonsense 6/9 - 3
10-89712007-G-C c.625G>C p.G209R Missense 6/9 - 2
10-89712007-G-A c.625G>A p.G209R Missense 6/9 - 2
10-89712007-GGA-AGC c.625_627delinsAGC p.G209S Missense 6/9 - 1
10-89712008-G-T c.626G>T p.G209V Missense 6/9 - 1
10-89712008-G-C c.626G>C p.G209A Missense 6/9 - 1
10-89712008-G-A c.626G>A p.G209E Missense 6/9 - 1
10-89712010-AC-GA c.628_629delinsGA p.T210D Missense 6/9 - 3
10-89712013-TGC-CAA c.631_633delinsCAA p.C211Q Missense 6/9 - 1
10-89712013-TG-GC c.631_632delinsGC p.C211A Missense 6/9 - 1
10-89712014-G-A c.632G>A p.C211Y Missense 6/9 - 3
10-89712013-T-TG c.632dup p.C211Wfs*32 Frameshift 6/9 - 2
10-89712014-TGC-T c.632_633del p.C211* SpliceDonorDeletion 6/9 - 1
10-89712015-C-G c.633C>G p.C211W Missense 6/9 - 6
10-89712015-C-A c.633C>A p.C211* Nonsense 6/9 - 9
10-89712012-TTGCAGTAAG-T c.634_634+8del - SpliceDonorDeletion 6/9 6/8 1
10-89712016-A-G c.634A>G p.N212D Missense 6/9 - 1
10-89712017-G-C c.634+1G>C - IntronicSNV - 6/8 2
10-89712017-G-A c.634+1G>A - IntronicSNV - 6/8 1
10-89712018-T-C c.634+2T>C - IntronicSNV - 6/8 3
10-89712019-A-C c.634+3A>C - IntronicSNV - 6/8 1
10-89712020-A-T c.634+4A>T - IntronicSNV - 6/8 1
10-89712021-G-A c.634+5G>A - IntronicSNV - 6/8 3
10-89712021-G-C c.634+5G>C - IntronicSNV - 6/8 2
10-89712473-G-A c.634+457G>A - IntronicSNV - 6/8 3
10-89716107-T-C c.635-1503T>C - IntronicSNV - 6/8 2
10-89717609-G-A c.635-1G>A - IntronicSNV - 6/8 1
10-89717609-G-C c.635-1G>C - IntronicSNV - 6/8 1
10-89717609-G-T c.635-1G>T - IntronicSNV - 6/8 1
10-89717606-GCAGATCCT-G c.635_642del p.N212Ifs*28 SpliceAcceptorDeletion 7/9 - 1
10-89717610-GA-G c.635del p.N212Ifs*9 Frameshift 7/9 - 1
10-89717610-A-T c.635A>T p.N212I Missense 7/9 - 1
10-89717612-C-T c.637C>T p.P213S Missense 7/9 - 1
10-89717611-TC-T c.638del p.P213Lfs*8 Frameshift 7/9 - 1
10-89717613-C-A c.638C>A p.P213H Missense 7/9 - 1
10-89717615-C-T c.640C>T p.Q214* Nonsense 7/9 - 25
10-89717616-CA-C c.641del p.Q214Rfs*7 Frameshift 7/9 - 3
10-89717616-A-G c.641A>G p.Q214R Missense 7/9 - 2
10-89717616-A-T c.641A>T p.Q214L Missense 7/9 - 1
10-89717617-G-T c.642G>T p.Q214H Missense 7/9 - 1
10-89717617-G-C c.642G>C p.Q214H Missense 7/9 - 1
10-89717619-T-C c.644T>C p.F215S Missense 7/9 - 2
10-89717619-T-G c.644T>G p.F215C Missense 7/9 - 1
10-89717618-TTTGTGGTCTGCCAGC-T c.645_659del p.F215_Q219del InFrameDeletion 7/9 - 1
10-89717621-G-A c.646G>A p.V216M Missense 7/9 - 3
10-89717619-TTG-T c.647_648del p.V216Gfs*26 Frameshift 7/9 - 2
10-89717622-T-C c.647T>C p.V216A Missense 7/9 - 1
10-89717624-G-A c.649G>A p.V217I Missense 7/9 - 1
10-89717624-G-T c.649G>T p.V217F Missense 7/9 - 1
10-89717624-G-C c.649G>C p.V217L Missense 7/9 - 1
10-89717625-T-A c.650T>A p.V217D Missense 7/9 - 3
10-89717626-C-T c.651C>T p.V217= Synonymous 7/9 - 1
10-89717627-T-C c.652T>C p.C218R Missense 7/9 - 1
10-89717627-TG-GC c.652_653delinsGC p.C218A Missense 7/9 - 1
10-89717627-T-TA c.652_653insA p.C218* Nonsense 7/9 - 1
10-89717628-G-A c.653G>A p.C218Y Missense 7/9 - 1
10-89717628-G-T c.653G>T p.C218F Missense 7/9 - 1
10-89717628-TGCCAGCTA-T c.653_660del p.C218* Frameshift 7/9 - 1
10-89717629-C-T c.654C>T p.C218= Synonymous 7/9 - 3
10-89717629-C-A c.654C>A p.C218* Nonsense 7/9 - 4
10-89717630-C-T c.655C>T p.Q219* Nonsense 7/9 - 8
10-89717631-A-AG c.657dup p.L220Afs*23 Frameshift 7/9 - 1
10-89717633-C-G c.658C>G p.L220V Missense 7/9 - 2
10-89717636-A-T c.661A>T p.K221* Nonsense 7/9 - 2
10-89717636-AA-GC c.661_662delinsGC p.K221A Missense 7/9 - 1
10-89717634-TA-T c.662del p.K221Rfs*2 Frameshift 7/9 - 1
10-89717637-A-G c.662A>G p.K221R Missense 7/9 - 1
10-89717638-G-C c.663G>C p.K221N Missense 7/9 - 2
10-89717638-G-T c.663G>T p.K221N Missense 7/9 - 1
10-89717639-G-A c.664G>A p.V222M Missense 7/9 - 1
10-89717640-T-C c.665T>C p.V222A Missense 7/9 - 1
10-89717639-GTGAAGATATATTCC-G c.666_679del p.K223Qfs*15 Frameshift 7/9 - 1
10-89717641-G-GT c.666_667insT p.K223* Nonsense 7/9 - 1
10-89717642-A-T c.667A>T p.K223* Nonsense 7/9 - 1
10-89717644-G-C c.669G>C p.K223N Missense 7/9 - 1
10-89717646-ATATATTCCT-A c.671_679del p.I224_S227delinsT MultiAAMissense 7/9 - 1
10-89717647-A-G c.672A>G p.I224M Missense 7/9 - 1
10-89717646-T-TA c.672dup p.Y225Ifs*18 Frameshift 7/9 - 2
10-89717646-TATATTCCTCC-T c.673_682del p.Y225Ifs*28 Frameshift 7/9 - 1
10-89717649-A-G c.674A>G p.Y225C Missense 7/9 - 2
10-89717650-T-A c.675T>A p.Y225* Nonsense 7/9 - 4
10-89717650-T-G c.675T>G p.Y225* Nonsense 7/9 - 6
10-89717651-TTCCTCCAATTCAGGACCCACAC-T c.676_697del p.S226Dfs*23 Frameshift 7/9 - 1
10-89717651-T-G c.676T>G p.S226A Missense 7/9 - 3
10-89717651-TC-GA c.676_677inv p.S226D Missense 7/9 - 1
10-89717651-TC-T c.678del p.S227Pfs*29 Frameshift 7/9 - 3
10-89717654-T-C c.679T>C p.S227P Missense 7/9 - 1
10-89717655-C-T c.680C>T p.S227F Missense 7/9 - 4
10-89717660-T-G c.685T>G p.S229A Missense 7/9 - 2
10-89717660-TCA-GAC c.685_687delinsGAC p.S229D Missense 7/9 - 1
10-89717660-T-A c.685T>A p.S229T Missense 7/9 - 1
10-89717661-C-A c.686C>A p.S229* Nonsense 7/9 - 9
10-89717661-C-G c.686C>G p.S229* Nonsense 7/9 - 7
10-89717661-C-T c.686C>T p.S229L Missense 7/9 - 1
10-89717662-A-G c.687A>G p.S229= Synonymous 7/9 - 1
10-89717663-G-T c.688G>T p.G230* Nonsense 7/9 - 4
10-89717663-G-A c.688G>A p.G230R Missense 7/9 - 1
10-89717664-G-T c.689G>T p.G230V Missense 7/9 - 1
10-89717664-G-A c.689G>A p.G230E Missense 7/9 - 1
10-89717665-GACCCA-G c.690_694del p.P231Tfs*10 Frameshift 7/9 - 1
10-89717666-CC-GA c.691_692delinsGA p.P231D Missense 7/9 - 1
10-89717667-C-T c.692C>T p.P231L Missense 7/9 - 1
10-89717669-ACA-GAC c.694_696delinsGAC p.T232D Missense 7/9 - 1
10-89717669-A-G c.694A>G p.T232A Missense 7/9 - 3
10-89717669-A-C c.694A>C p.T232P Missense 7/9 - 1
10-89717670-C-T c.695C>T p.T232I Missense 7/9 - 1
10-89717671-CA-C c.696del p.R233Dfs*23 Frameshift 7/9 - 1
10-89717670-C-CA c.696dup p.R233Tfs*10 Frameshift 7/9 - 1
10-89717671-CACGACGGGAA-C c.696_705del p.R233Tfs*20 Frameshift 7/9 - 1
10-89717672-C-T c.697C>T p.R233* Nonsense 7/9 - 125
10-89717672-AC-A c.697del p.R233Dfs*23 Frameshift 7/9 - 1
10-89717672-C-A c.697C>A p.R233= Synonymous 7/9 - 3
10-89717672-CG-GC c.697_698delinsGC p.R233A Missense 7/9 - 1
10-89717672-CG-AC c.697_698delinsAC p.R233T Missense 7/9 - 1
10-89717670-CACGACGGG-C c.697_704del p.R234Qfs*6 Frameshift 7/9 - 1
10-89717673-GACG-AA c.698_701delinsAA p.R233Qfs*9 Frameshift 7/9 - 1
10-89717673-G-A c.698G>A p.R233Q Missense 7/9 - 9
10-89717673-G-C c.698G>C p.R233P Missense 7/9 - 1
10-89717673-G-T c.698G>T p.R233L Missense 7/9 - 1
10-89717671-A-ACGACCTGGAGC c.700_701insCTGGAGCCGAC p.R234Pfs*26 Frameshift 7/9 - 1
10-89717675-CGG-TGT c.700_702delinsTGT p.R234C Missense 7/9 - 1
10-89717675-C-G c.700C>G p.R234G Missense 7/9 - 1
10-89717675-C-T c.700C>T p.R234W Missense 7/9 - 7
10-89717676-G-T c.701G>T p.R234L Missense 7/9 - 4
10-89717676-G-A c.701G>A p.R234Q Missense 7/9 - 14
10-89717672-CGACGGGAA-C c.701_708del p.R234Qfs*6 Frameshift 7/9 - 2
10-89717676-GG-AT c.701_702delinsAT p.R234H Missense 7/9 - 1
10-89717676-G-GGTAGGT c.702_703insTAGGTG p.R234_E235ins* Nonsense 7/9 - 1
10-89717675-CG-C c.703del p.E235Kfs*21 Frameshift 7/9 - 2
10-89717678-G-T c.703G>T p.E235* Nonsense 7/9 - 3
10-89717679-A-C c.704A>C p.E235A Missense 7/9 - 1
10-89717677-GGAAGACAA-G c.704_711del p.E235Vfs*5 Frameshift 7/9 - 1
10-89717678-GA-G c.705del p.D236Tfs*20 Frameshift 7/9 - 1
10-89717678-GAAGACA-G c.705_710del p.D236_K237del InFrameDeletion 7/9 - 1
10-89717681-G-A c.706G>A p.D236N Missense 7/9 - 2
10-89717680-A-AG c.706dup p.D236Gfs*7 Frameshift 7/9 - 1
10-89717682-GACAAGTTCATGTAC-G c.707_720del p.D236Vfs*2 Frameshift 7/9 - 1
10-89717682-A-G c.707A>G p.D236G Missense 7/9 - 1
10-89717683-C-CT c.708_709insT p.K237* Nonsense 7/9 - 1
10-89717684-CAAGTTCA-C c.709_715del p.K237Cfs*17 Frameshift 7/9 - 1
10-89717684-A-C c.709A>C p.K237Q Missense 7/9 - 1
10-89717684-AA-GC c.709_710delinsGC p.K237A Missense 7/9 - 2
10-89717684-A-G c.709A>G p.K237E Missense 7/9 - 1
10-89717684-CAAGTT-C c.709_713del p.K237Hfs*4 Frameshift 7/9 - 1
10-89717685-A-G c.710A>G p.K237R Missense 7/9 - 1
10-89717686-G-A c.711G>A p.K237= Synonymous 7/9 - 2
10-89717685-A-AG c.711dup p.F238Vfs*5 Frameshift 7/9 - 2
10-89717684-AAGTTCATGT-A c.711_719del p.K237_Y240delinsN MultiAAMissense 7/9 - 1
10-89717687-T-C c.712T>C p.F238L Missense 7/9 - 1
10-89717689-C-A c.714C>A p.F238L Missense 7/9 - 1
10-89717689-C-G c.714C>G p.F238L Missense 7/9 - 1
10-89717686-GT-G c.713del p.F238Sfs*18 Frameshift 7/9 - 1
10-89717688-T-C c.713T>C p.F238S Missense 7/9 - 1
10-89717690-A-C c.715A>C p.M239L Missense 7/9 - 1
10-89717691-T-G c.716T>G p.M239R Missense 7/9 - 2
10-89717691-T-C c.716T>C p.M239T Missense 7/9 - 1
10-89717693-T-C c.718T>C p.Y240H Missense 7/9 - 1
10-89717693-TAC-GAG c.718_720delinsGAG p.Y240E Missense 7/9 - 1
10-89717694-A-T c.719A>T p.Y240F Missense 7/9 - 8
10-89717694-A-C c.719A>C p.Y240S Missense 7/9 - 1
10-89717695-C-G c.720C>G p.Y240* Nonsense 7/9 - 5
10-89717695-C-A c.720C>A p.Y240* Nonsense 7/9 - 5
10-89717695-C-T c.720C>T p.Y240= Synonymous 7/9 - 2
10-89717696-T-C c.721T>C p.F241L Missense 7/9 - 5
10-89717698-T-A c.723T>A p.F241L Missense 7/9 - 4
10-89717698-T-G c.723T>G p.F241L Missense 7/9 - 7
10-89717696-T-G c.721T>G p.F241V Missense 7/9 - 1
10-89717697-T-C c.722T>C p.F241S Missense 7/9 - 17
10-89717695-C-CT c.723dup p.E242* Nonsense 7/9 - 5
10-89717695-CT-C c.723del p.F241Lfs*15 Frameshift 7/9 - 1
10-89717696-TTTGAGTTCCCTCAGCCG-T c.724_740del p.E242Tfs*5 Frameshift 7/9 - 1
10-89717699-G-T c.724G>T p.E242* Nonsense 7/9 - 5
10-89717699-G-A c.724G>A p.E242K Missense 7/9 - 3
10-89717699-G-GTA c.724_725insTA p.E242Vfs*15 Frameshift 7/9 - 1
10-89717700-A-G c.725A>G p.E242G Missense 7/9 - 1
10-89717701-G-T c.726G>T p.E242D Missense 7/9 - 2
10-89717701-G-C c.726G>C p.E242D Missense 7/9 - 1
10-89717702-T-C c.727T>C p.F243L Missense 7/9 - 1
10-89717704-C-A c.729C>A p.F243L Missense 7/9 - 2
10-89717704-C-G c.729C>G p.F243L Missense 7/9 - 1
10-89717702-GTT-G c.727_728del p.F243Pfs*9 Frameshift 7/9 - 1
10-89717703-T-C c.728T>C p.F243S Missense 7/9 - 1
10-89717703-TTCCCTCAGC-T c.728_736del p.F243_P246delinsS MultiAAMissense 7/9 - 1
10-89717701-GTTCCCTCAGCCGT-G c.728_740del p.F243Yfs*9 Frameshift 7/9 - 1
10-89717705-C-T c.730C>T p.P244S Missense 7/9 - 2
10-89717703-TC-T c.731del p.P244Lfs*12 Frameshift 7/9 - 1
10-89717706-C-T c.731C>T p.P244L Missense 7/9 - 1
10-89717706-C-A c.731C>A p.P244H Missense 7/9 - 1
10-89717703-TCCCTCAG-T c.731_737del p.P244Rfs*10 Frameshift 7/9 - 1
10-89717708-C-T c.733C>T p.Q245* Nonsense 7/9 - 34
10-89717708-CAG-TAT c.733_735delinsTAT p.Q245Y Missense 7/9 - 1
10-89717708-CA-AC c.733_734delinsAC p.Q245T Missense 7/9 - 1
10-89717708-C-G c.733C>G p.Q245E Missense 7/9 - 1
10-89717709-A-G c.734A>G p.Q245R Missense 7/9 - 1
10-89717709-CA-C c.734del p.Q245Rfs*11 Frameshift 7/9 - 1
10-89717707-TCAGC-T c.734_737del p.Q245Rfs*10 Frameshift 7/9 - 1
10-89717711-C-CAG c.736_737insAG p.P246Qfs*11 Frameshift 7/9 - 1
10-89717711-C-A c.736C>A p.P246T Missense 7/9 - 1
10-89717711-C-T c.736C>T p.P246S Missense 7/9 - 2
10-89717712-C-CAAG c.737_738insAAG p.P246_L247insR InFrameInsertion 7/9 - 1
10-89717712-C-T c.737C>T p.P246L Missense 7/9 - 37
10-89717710-GC-G c.737del p.P246Rfs*10 Frameshift 7/9 - 1
10-89717712-C-A c.737C>A p.P246Q Missense 7/9 - 1
10-89717712-C-G c.737C>G p.P246R Missense 7/9 - 1
10-89717713-CG-C c.738del p.L247Yfs*9 Frameshift 7/9 - 2
10-89717714-GTTACCT-G c.739_744del p.L247_P248del InFrameDeletion 7/9 - 1
10-89717714-TTACC-GACGAGCT c.739_743delinsGACGAGCT p.L247_P248delinsDEL MultiAAMissense 7/9 - 1
10-89717714-TT-GA c.739_740delinsGA p.L247E Missense 7/9 - 1
10-89717713-G-GT c.740dup p.L247Ffs*6 Frameshift 7/9 - 2
10-89717715-T-A c.740T>A p.L247* Nonsense 7/9 - 1
10-89717715-T-G c.740T>G p.L247* Nonsense 7/9 - 1
10-89717715-T-C c.740T>C p.L247S Missense 7/9 - 1
10-89717713-GTTACC-G c.740_744del p.L247Cfs*4 Frameshift 7/9 - 1
10-89717715-T-TA c.741dup p.P248Tfs*5 Frameshift 7/9 - 15
10-89717716-A-T c.741A>T p.L247F Missense 7/9 - 3
10-89717716-A-C c.741A>C p.L247F Missense 7/9 - 3
10-89717717-C-T c.742C>T p.P248S Missense 7/9 - 4
10-89717717-ACCTGTGTGT-A c.742_750del p.P248_C250del InFrameDeletion 7/9 - 1
10-89717718-C-A c.743C>A p.P248H Missense 7/9 - 2
10-89717718-C-T c.743C>T p.P248L Missense 7/9 - 2
10-89717718-C-G c.743C>G p.P248R Missense 7/9 - 1
10-89717719-T-TTG c.744_745insTG p.V249Wfs*8 Frameshift 7/9 - 2
10-89717720-G-A c.745G>A p.V249M Missense 7/9 - 4
10-89717720-GT-TA c.745_746delinsTA p.V249* Nonsense 7/9 - 2
10-89717721-T-C c.746T>C p.V249A Missense 7/9 - 1
10-89717722-G-C c.747G>C p.V249= Synonymous 7/9 - 1
10-89717723-TG-AC c.748_749delinsAC p.C250T Missense 7/9 - 162
10-89717723-T-C c.748T>C p.C250R Missense 7/9 - 1
10-89717723-TG-GC c.748_749delinsGC p.C250A Missense 7/9 - 3
10-89717723-GTGT-G c.748_750del p.C250del InFrameDeletion 7/9 - 1
10-89717723-GTGTGGTGATATCAA-G c.748_761del p.C250Sfs*43 Frameshift 7/9 - 1
10-89717724-G-T c.749G>T p.C250F Missense 7/9 - 1
10-89717724-G-A c.749G>A p.C250Y Missense 7/9 - 1
10-89717718-CTG-C c.750_751del p.C250Wfs*2 Frameshift 7/9 - 4
10-89717724-G-GT c.750dup p.G251Wfs*2 Frameshift 7/9 - 1
10-89717725-T-A c.750T>A p.C250* Nonsense 7/9 - 2
10-89717725-T-G c.750T>G p.C250W Missense 7/9 - 1
10-89717726-G-T c.751G>T p.G251C Missense 7/9 - 7
10-89717726-GG-CT c.751_752delinsCT p.G251L Missense 7/9 - 1
10-89717726-G-A c.751G>A p.G251S Missense 7/9 - 1
10-89717727-G-T c.752G>T p.G251V Missense 7/9 - 7
10-89717727-G-A c.752G>A p.G251D Missense 7/9 - 4
10-89717727-GT-AG c.752_753delinsAG p.G251E Missense 7/9 - 1
10-89717723-TGTG-T c.752_754del p.G251del InFrameDeletion 7/9 - 1
10-89717727-G-GT c.753dup p.D252* Nonsense 7/9 - 1
10-89717729-G-T c.754G>T p.D252Y Missense 7/9 - 4
10-89717729-G-A c.754G>A p.D252N Missense 7/9 - 4
10-89717729-GAT-AAG c.754_756delinsAAG p.D252K Missense 7/9 - 1
10-89717730-A-G c.755A>G p.D252G Missense 7/9 - 19
10-89717730-A-T c.755A>T p.D252V Missense 7/9 - 6
10-89717730-A-AT c.756dup p.I253Yfs*45 Frameshift 7/9 - 2
10-89717732-A-T c.757A>T p.I253F Missense 7/9 - 1
10-89717732-ATC-TGG c.757_759delinsTGG p.I253W Missense 7/9 - 1
10-89717731-T-TA c.757dup p.I253Nfs*45 Frameshift 7/9 - 1
10-89717733-T-A c.758T>A p.I253N Missense 7/9 - 3
10-89717733-T-G c.758T>G p.I253S Missense 7/9 - 1
10-89717733-T-C c.758T>C p.I253T Missense 7/9 - 1
10-89717731-TATC-T c.758_760del p.I253del InFrameDeletion 7/9 - 1
10-89717734-C-CT c.759_760insT p.K254* Nonsense 7/9 - 2
10-89717735-A-T c.760A>T p.K254* Nonsense 7/9 - 1
10-89717735-A-G c.760A>G p.K254E Missense 7/9 - 1
10-89717736-AA-GC c.761_762delinsGC p.K254S Missense 7/9 - 1
10-89717736-A-C c.761A>C p.K254T Missense 7/9 - 3
10-89717734-CAAAGT-C c.761_765del p.K254Rfs*42 Frameshift 7/9 - 2
10-89717736-A-G c.761A>G p.K254R Missense 7/9 - 11
10-89717734-C-CA c.762dup p.V255Sfs*43 Frameshift 7/9 - 2
10-89717737-A-G c.762A>G p.K254= Synonymous 7/9 - 1
10-89717738-GT-TA c.763_764delinsTA p.V255* Nonsense 7/9 - 1
10-89717738-G-A c.763G>A p.V255I Missense 7/9 - 1
10-89717736-AAGTAGAGTTCTTCC-A c.763_776del p.V255Qfs*38 Frameshift 7/9 - 1
10-89717739-T-G c.764T>G p.V255G Missense 7/9 - 2
10-89717739-T-C c.764T>C p.V255A Missense 7/9 - 2
10-89717736-AAGT-A c.764_766del p.V255del InFrameDeletion 7/9 - 1
10-89717739-T-TA c.765dup p.E256Rfs*42 Frameshift 7/9 - 1
10-89717740-A-AT c.765_766insT p.E256* Nonsense 7/9 - 2
10-89717740-TAGAGTTC-T c.765_771del p.E256Sfs*8 Frameshift 7/9 - 1
10-89717741-G-T c.766G>T p.E256* Nonsense 7/9 - 2
10-89717741-G-A c.766G>A p.E256K Missense 7/9 - 3
10-89717742-A-G c.767A>G p.E256G Missense 7/9 - 1
10-89717744-T-C c.769T>C p.F257L Missense 7/9 - 1
10-89717746-C-A c.771C>A p.F257L Missense 7/9 - 1
10-89717746-C-G c.771C>G p.F257L Missense 7/9 - 1
10-89717745-T-C c.770T>C p.F257S Missense 7/9 - 2
10-89717747-T-C c.772T>C p.F258L Missense 7/9 - 2
10-89717749-C-A c.774C>A p.F258L Missense 7/9 - 2
10-89717749-C-G c.774C>G p.F258L Missense 7/9 - 2
10-89717748-TC-AA c.773_774delinsAA p.F258* Nonsense 7/9 - 1
10-89717748-T-A c.773T>A p.F258Y Missense 7/9 - 1
10-89717750-C-T c.775C>T p.H259Y Missense 7/9 - 1
10-89717752-AC-A c.777del p.H259Qfs*7 Frameshift 7/9 - 2
10-89717752-C-CT c.777_778insT p.K260* Nonsense 7/9 - 1
10-89717753-A-T c.778A>T p.K260* Nonsense 7/9 - 4
10-89717753-A-G c.778A>G p.K260E Missense 7/9 - 1
10-89717753-AA-GC c.778_779delinsGC p.K260A Missense 7/9 - 2
10-89717753-AAA-GAC c.778_780delinsGAC p.K260D Missense 7/9 - 1
10-89717754-A-G c.779A>G p.K260R Missense 7/9 - 3
10-89717756-C-T c.781C>T p.Q261* Nonsense 7/9 - 5
10-89717756-C-G c.781C>G p.Q261E Missense 7/9 - 2
10-89717758-G-GT c.783_784insT p.N262* Nonsense 7/9 - 1
10-89717756-CAGAACAAGATGCTAAAAAAGGTTTGTACTTTACTTTCATTGGGAG-C c.783_801+26del - SpliceDonorDeletion 7/9 7/8 1
10-89717756-CAG-C c.783_784del p.N262Qfs*35 Frameshift 7/9 - 1
10-89717759-A-T c.784A>T p.N262Y Missense 7/9 - 5
10-89717760-A-G c.785A>G p.N262S Missense 7/9 - 1
10-89717761-C-G c.786C>G p.N262K Missense 7/9 - 1
10-89717761-C-A c.786C>A p.N262K Missense 7/9 - 1
10-89717762-A-T c.787A>T p.K263* Nonsense 7/9 - 3
10-89717762-AA-GC c.787_788delinsGC p.K263A Missense 7/9 - 3
10-89717763-A-G c.788A>G p.K263R Missense 7/9 - 4
10-89717765-A-G c.790A>G p.M264V Missense 7/9 - 1
10-89717765-AT-GC c.790_791delinsGC p.M264A Missense 7/9 - 1
10-89717766-T-G c.791T>G p.M264R Missense 7/9 - 1
10-89717767-G-A c.792G>A p.M264I Missense 7/9 - 4
10-89717768-C-G c.793C>G p.L265V Missense 7/9 - 1
10-89717768-C-A c.793C>A p.L265I Missense 7/9 - 1
10-89717768-CTA-ATG c.793_795delinsATG p.L265M Missense 7/9 - 1
10-89717768-CT-GG c.793_794delinsGG p.L265G Missense 7/9 - 2
10-89717769-T-C c.794T>C p.L265P Missense 7/9 - 1
10-89717769-T-G c.794T>G p.L265R Missense 7/9 - 1
10-89717770-A-AT c.795_796insT p.K266* Nonsense 7/9 - 1
10-89717771-A-T c.796A>T p.K266* Nonsense 7/9 - 3
10-89717771-AA-GC c.796_797delinsGC p.K266A Missense 7/9 - 3
10-89717771-AAA-GAC c.796_798delinsGAC p.K266D Missense 7/9 - 1
10-89717772-A-G c.797A>G p.K266R Missense 7/9 - 7
10-89717773-A-AT c.798_799insT p.K267* Nonsense 7/9 - 7
10-89717773-A-C c.798A>C p.K266N Missense 7/9 - 2
10-89717773-A-T c.798A>T p.K266N Missense 7/9 - 2
10-89717774-A-G c.799A>G p.K267E Missense 7/9 - 1
10-89717774-A-AC c.799_800insC p.K267Tfs*31 SpliceDonorInsertion 7/9 - 2
10-89717774-AA-GC c.799_800delinsGC p.K267A Missense 7/9 - 3
10-89717774-A-C c.799A>C p.K267Q Missense 7/9 - 1
10-89717769-TA-T c.800del p.K267Rfs*9 Frameshift 7/9 - 42
10-89717769-T-TA c.800dup p.D268Gfs*30 SpliceDonorInsertion 7/9 - 1
10-89717775-AAG-A c.800_801del p.K267Rfs*30 SpliceDonorDeletion 7/9 - 2
10-89717775-A-G c.800A>G p.K267R Missense 7/9 - 3
10-89717776-G-C c.801G>C p.K267N Missense 7/9 - 1
10-89717776-G-T c.801G>T p.K267N Missense 7/9 - 1
10-89717777-G-T c.801+1G>T - IntronicSNV - 7/8 2
10-89717775-AG-A c.801+1del - IntronicDeletion - 7/8 2
10-89717778-T-C c.801+2T>C - IntronicSNV - 7/8 1
10-89717778-T-A c.801+2T>A - IntronicSNV - 7/8 3
10-89717778-T-G c.801+2T>G - IntronicSNV - 7/8 1
10-89717778-GTTTGT-G c.801+2_801+6del - IntronicDeletion - 7/8 1
10-89717799-G-A c.801+23G>A - IntronicSNV - 7/8 1
10-89720251-T-C c.802-400T>C - IntronicSNV - 7/8 3
10-89720649-A-G c.802-2A>G - IntronicSNV - 7/8 1
10-89720649-A-T c.802-2A>T - IntronicSNV - 7/8 1
10-89720651-G-T c.802G>T p.D268Y Missense 8/9 - 2
10-89720649-AG-A c.802del p.D268Tfs*8 Frameshift 8/9 - 2
10-89720649-A-AG c.802dup p.D268Gfs*30 SpliceAcceptorInsertion 8/9 - 1
10-89720651-G-GA c.803dup p.D268Efs*30 SpliceAcceptorInsertion 8/9 - 1
10-89720653-C-A c.804C>A p.D268E Missense 8/9 - 10
10-89720653-C-G c.804C>G p.D268E Missense 8/9 - 2
10-89720653-AC-A c.804del p.D268Efs*8 Frameshift 8/9 - 1
10-89720654-A-T c.805A>T p.K269* Nonsense 8/9 - 2
10-89720654-AA-GC c.805_806delinsGC p.K269A Missense 8/9 - 3
10-89720654-A-G c.805A>G p.K269E Missense 8/9 - 2
10-89720654-AAA-GAC c.805_807delinsGAC p.K269D Missense 8/9 - 1
10-89720654-A-C c.805A>C p.K269Q Missense 8/9 - 1
10-89720655-A-G c.806A>G p.K269R Missense 8/9 - 2
10-89720657-AATGTT-A c.808_812del p.M270Sfs*26 Frameshift 8/9 - 1
10-89720653-CA-C c.808del p.M270Cfs*6 Frameshift 8/9 - 1
10-89720658-T-A c.809T>A p.M270K Missense 8/9 - 1
10-89720658-T-C c.809T>C p.M270T Missense 8/9 - 2
10-89720659-G-A c.810G>A p.M270I Missense 8/9 - 4
10-89720659-G-C c.810G>C p.M270I Missense 8/9 - 3
10-89720659-G-T c.810G>T p.M270I Missense 8/9 - 6
10-89720660-T-A c.811T>A p.F271I Missense 8/9 - 1
10-89720660-TT-GA c.811_812delinsGA p.F271D Missense 8/9 - 1
10-89720660-T-C c.811T>C p.F271L Missense 8/9 - 2
10-89720662-T-A c.813T>A p.F271L Missense 8/9 - 2
10-89720662-T-G c.813T>G p.F271L Missense 8/9 - 2
10-89720660-T-G c.811T>G p.F271V Missense 8/9 - 1
10-89720661-T-C c.812T>C p.F271S Missense 8/9 - 3
10-89720663-C-T c.814C>T p.H272Y Missense 8/9 - 4
10-89720664-A-C c.815A>C p.H272P Missense 8/9 - 2
10-89720665-C-A c.816C>A p.H272Q Missense 8/9 - 1
10-89720665-C-G c.816C>G p.H272Q Missense 8/9 - 1
10-89720666-TT-GC c.817_818delinsGC p.F273A Missense 8/9 - 1
10-89720666-T-C c.817T>C p.F273L Missense 8/9 - 2
10-89720668-T-A c.819T>A p.F273L Missense 8/9 - 2
10-89720668-T-G c.819T>G p.F273L Missense 8/9 - 2
10-89720667-T-C c.818T>C p.F273S Missense 8/9 - 1
10-89720667-TT-AA c.818_819inv p.F273* Nonsense 8/9 - 2
10-89720665-CTT-C c.819_820del p.F273Lfs*24 Frameshift 8/9 - 1
10-89720665-CT-C c.820del p.W274Gfs*2 Frameshift 8/9 - 1
10-89720669-TTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGG-T c.820_878del p.W274Kfs*4 InFrameDeletion 8/9 - 1
10-89720670-G-A c.821G>A p.W274* Nonsense 8/9 - 7
10-89720670-G-T c.821G>T p.W274L Missense 8/9 - 6
10-89720670-G-C c.821G>C p.W274S Missense 8/9 - 1
10-89720671-G-GTA c.822_823insTA p.V275* Nonsense 8/9 - 3
10-89720671-G-A c.822G>A p.W274* Nonsense 8/9 - 10
10-89720671-G-T c.822G>T p.W274C Missense 8/9 - 2
10-89720671-G-C c.822G>C p.W274C Missense 8/9 - 1
10-89720669-TG-T c.823del p.V275* Frameshift 8/9 - 4
10-89720672-GT-TA c.823_824delinsTA p.V275* Nonsense 8/9 - 1
10-89720672-G-C c.823G>C p.V275L Missense 8/9 - 1
10-89720672-G-T c.823G>T p.V275L Missense 8/9 - 1
10-89720673-T-C c.824T>C p.V275A Missense 8/9 - 1
10-89720676-A-G c.827A>G p.N276S Missense 8/9 - 10
10-89720673-TA-T c.827del p.N276Ifs*15 Frameshift 8/9 - 2
10-89720677-T-G c.828T>G p.N276K Missense 8/9 - 3
10-89720677-T-A c.828T>A p.N276K Missense 8/9 - 3
10-89720678-A-G c.829A>G p.T277A Missense 8/9 - 10
10-89720677-T-TA c.829dup p.T277Nfs*21 Frameshift 8/9 - 5
10-89720678-A-T c.829A>T p.T277S Missense 8/9 - 1
10-89720679-C-T c.830C>T p.T277I Missense 8/9 - 12
10-89720679-C-G c.830C>G p.T277R Missense 8/9 - 2
10-89720679-C-A c.830C>A p.T277K Missense 8/9 - 1
10-89720681-T-C c.832T>C p.F278L Missense 8/9 - 2
10-89720683-C-A c.834C>A p.F278L Missense 8/9 - 2
10-89720682-T-C c.833T>C p.F278S Missense 8/9 - 1
10-89720683-C-G c.834C>G p.F278L Missense 8/9 - 6
10-89720684-T-C c.835T>C p.F279L Missense 8/9 - 1
10-89720686-C-A c.837C>A p.F279L Missense 8/9 - 1
10-89720686-C-G c.837C>G p.F279L Missense 8/9 - 1
10-89720687-A-G c.838A>G p.I280V Missense 8/9 - 1
10-89720689-A-C c.840A>C p.I280= Synonymous 8/9 - 1
10-89720689-A-T c.840A>T p.I280= Synonymous 8/9 - 1
10-89720690-C-G c.841C>G p.P281A Missense 8/9 - 1
10-89720691-C-T c.842C>T p.P281L Missense 8/9 - 1
10-89720688-TACCAGGACCAGAGGAA-T c.843_858del p.G282Qfs*4 Frameshift 8/9 - 1
10-89720692-A-T c.843A>T p.P281= Synonymous 8/9 - 1
10-89720692-A-G c.843A>G p.P281= Synonymous 8/9 - 1
10-89720692-A-C c.843A>C p.P281= Synonymous 8/9 - 1
10-89720693-G-T c.844G>T p.G282* Nonsense 8/9 - 1
10-89720696-C-T c.847C>T p.P283S Missense 8/9 - 1
10-89720696-C-A c.847C>A p.P283T Missense 8/9 - 1
10-89720698-CA-C c.849del p.E284Rfs*7 Frameshift 8/9 - 1
10-89720699-G-T c.850G>T p.E284* Nonsense 8/9 - 3
10-89720699-GA-TG c.850_851delinsTG p.E284W Missense 8/9 - 1
10-89720699-G-A c.850G>A p.E284K Missense 8/9 - 1
10-89720697-CAG-C c.851_852del p.E284Gfs*13 Frameshift 8/9 - 1
10-89720700-A-G c.851A>G p.E284G Missense 8/9 - 2
10-89720702-G-A c.853G>A p.E285K Missense 8/9 - 3
10-89720702-G-T c.853G>T p.E285* Nonsense 8/9 - 2
10-89720700-A-AG c.853dup p.E285Gfs*13 Frameshift 8/9 - 2
10-89720703-A-T c.854A>T p.E285V Missense 8/9 - 2
10-89720704-A-G c.855A>G p.E285= Synonymous 8/9 - 1
10-89720705-A-G c.856A>G p.T286A Missense 8/9 - 14
10-89720707-C-A c.858C>A p.T286= Synonymous 8/9 - 1
10-89720706-CCT-C c.859_860del p.S287Rfs*10 Frameshift 8/9 - 2
10-89720708-T-C c.859T>C p.S287P Missense 8/9 - 1
10-89720708-T-TAA c.859_860insAA p.S287* Nonsense 8/9 - 1
10-89720709-C-A c.860C>A p.S287* Nonsense 8/9 - 2
10-89720709-C-G c.860C>G p.S287* Nonsense 8/9 - 3
10-89720709-C-T c.860C>T p.S287L Missense 8/9 - 1
10-89720709-TCAGAAAAA-T c.860_867del p.S287Cfs*8 Frameshift 8/9 - 1
10-89720707-CTCAGAAAAAG-C c.860_869del p.S287* Frameshift 8/9 - 1
10-89720710-A-AT c.861_862insT p.E288* Nonsense 8/9 - 1
10-89720711-G-T c.862G>T p.E288* Nonsense 8/9 - 4
10-89720711-G-A c.862G>A p.E288K Missense 8/9 - 1
10-89720711-AG-A c.862del p.E288Kfs*3 Frameshift 8/9 - 2
10-89720712-A-T c.863A>T p.E288V Missense 8/9 - 1
10-89720713-A-AT c.864_865insT p.K289* Nonsense 8/9 - 2
10-89720713-A-T c.864A>T p.E288D Missense 8/9 - 1
10-89720713-AAAAAG-A c.864_868del p.E288Dfs*8 Frameshift 8/9 - 1
10-89720714-A-G c.865A>G p.K289E Missense 8/9 - 39
10-89720714-A-T c.865A>T p.K289* Nonsense 8/9 - 2
10-89720715-A-G c.866A>G p.K289R Missense 8/9 - 7
10-89720711-G-GA c.867dup p.V290Sfs*8 Frameshift 8/9 - 2
10-89720711-GA-G c.867del p.V290* Frameshift 8/9 - 6
10-89720715-A-AAT c.867_868insTA p.V290* Nonsense 8/9 - 1
10-89720716-A-G c.867A>G p.K289= Synonymous 8/9 - 1
10-89720717-GT-TA c.868_869delinsTA p.V290* Nonsense 8/9 - 2
10-89720717-G-C c.868G>C p.V290L Missense 8/9 - 1
10-89720717-GTA-ATG c.868_870delinsATG p.V290M Missense 8/9 - 1
10-89720718-T-A c.869T>A p.V290E Missense 8/9 - 1
10-89720719-A-AT c.870_871insT p.E291* Nonsense 8/9 - 1
10-89720720-AG-A c.871del p.E291Kfs*16 Frameshift 8/9 - 1
10-89720720-G-A c.871G>A p.E291K Missense 8/9 - 1
10-89720720-G-T c.871G>T p.E291* Nonsense 8/9 - 1
10-89720721-A-G c.872A>G p.E291G Missense 8/9 - 1
10-89720720-G-GA c.875dup p.N292Kfs*6 Frameshift 8/9 - 1
10-89720726-G-T c.877G>T p.G293* Nonsense 8/9 - 2
10-89720726-G-A c.877G>A p.G293R Missense 8/9 - 1
10-89720726-G-C c.877G>C p.G293R Missense 8/9 - 1
10-89720727-G-T c.878G>T p.G293V Missense 8/9 - 1
10-89720729-A-T c.880A>T p.S294C Missense 8/9 - 1
10-89720729-AG-GC c.880_881delinsGC p.S294A Missense 8/9 - 1
10-89720727-GA-G c.880del p.S294Vfs*13 Frameshift 8/9 - 1
10-89720730-G-A c.881G>A p.S294N Missense 8/9 - 1
10-89720730-G-T c.881G>T p.S294I Missense 8/9 - 1
10-89720728-AAGTCT-A c.881_885del p.S294Mfs*2 Frameshift 8/9 - 1
10-89720731-T-G c.882T>G p.S294R Missense 8/9 - 3
10-89720731-T-A c.882T>A p.S294R Missense 8/9 - 1
10-89720729-A-C c.880A>C p.S294R Missense 8/9 - 1
10-89720731-T-C c.882T>C p.S294= Synonymous 8/9 - 1
10-89720730-GTC-G c.883_884del p.L295Mfs*2 Frameshift 8/9 - 1
10-89720731-T-TC c.883dup p.L295Pfs*3 Frameshift 8/9 - 1
10-89720732-CT-TA c.883_884delinsTA p.L295* Nonsense 8/9 - 1
10-89720732-C-CT c.884dup p.C296Mfs*2 Frameshift 8/9 - 3
10-89720733-CT-C c.884del p.L295Hfs*12 Frameshift 8/9 - 2
10-89720735-TG-GC c.886_887delinsGC p.C296A Missense 8/9 - 1
10-89720736-G-A c.887G>A p.C296Y Missense 8/9 - 1
10-89720737-T-C c.888T>C p.C296= Synonymous 8/9 - 1
10-89720737-T-A c.888T>A p.C296* Nonsense 8/9 - 2
10-89720736-G-GT c.888dup p.D297* Nonsense 8/9 - 1
10-89720738-G-C c.889G>C p.D297H Missense 8/9 - 1
10-89720741-C-T c.892C>T p.Q298* Nonsense 8/9 - 16
10-89720741-C-G c.892C>G p.Q298E Missense 8/9 - 3
10-89720744-G-T c.895G>T p.E299* Nonsense 8/9 - 9
10-89720745-A-G c.896A>G p.E299G Missense 8/9 - 1
10-89720746-A-C c.897A>C p.E299D Missense 8/9 - 1
10-89720746-A-T c.897A>T p.E299D Missense 8/9 - 1
10-89720744-GA-G c.898del p.I300Sfs*7 Frameshift 8/9 - 2
10-89720748-ATC-A c.899_900del p.I300Rfs*2 Frameshift 8/9 - 1
10-89720749-TC-T c.900del p.I300Mfs*7 Frameshift 8/9 - 1
10-89720749-C-CT c.900_901insT p.D301* Nonsense 8/9 - 1
10-89720750-G-A c.901G>A p.D301N Missense 8/9 - 2
10-89720750-G-C c.901G>C p.D301H Missense 8/9 - 1
10-89720752-T-C c.903T>C p.D301= Synonymous 8/9 - 1
10-89720753-AGC-GAG c.904_906delinsGAG p.S302E Missense 8/9 - 1
10-89720753-AG-GC c.904_905delinsGC p.S302A Missense 8/9 - 3
10-89720753-A-G c.904A>G p.S302G Missense 8/9 - 1
10-89720755-C-G c.906C>G p.S302R Missense 8/9 - 1
10-89720755-C-A c.906C>A p.S302R Missense 8/9 - 1
10-89720753-A-C c.904A>C p.S302R Missense 8/9 - 1
10-89720756-ATT-GAG c.907_909delinsGAG p.I303E Missense 8/9 - 2
10-89720756-A-G c.907A>G p.I303V Missense 8/9 - 2
10-89720758-TTTGCAGTATA-T c.909_918del p.I303Mfs*11 Frameshift 8/9 - 1
10-89720756-A-AT c.910dup p.C304Lfs*8 Frameshift 8/9 - 1
10-89720759-TG-GC c.910_911delinsGC p.C304A Missense 8/9 - 1
10-89720759-T-C c.910T>C p.C304R Missense 8/9 - 1
10-89720758-TTGCAGTATAGAGCGTGCAGATAATGACAAGGAATATC-T c.911_947del p.C304* Frameshift 8/9 - 1
10-89720761-GC-G c.912del p.C304* Frameshift 8/9 - 1
10-89720762-A-AT c.913_914insT p.S305Mfs*7 Frameshift 8/9 - 1
10-89720763-G-A c.914G>A p.S305N Missense 8/9 - 2
10-89720763-G-T c.914G>T p.S305I Missense 8/9 - 1
10-89720764-T-C c.915T>C p.S305= Synonymous 8/9 - 1
10-89720763-GTA-G c.917_918del p.I306Rfs*5 Frameshift 8/9 - 1
10-89720768-G-A c.919G>A p.E307K Missense 8/9 - 9
10-89720768-G-T c.919G>T p.E307* Nonsense 8/9 - 3
10-89720768-AGAG-A c.919_921del p.E307del InFrameDeletion 8/9 - 1
10-89720769-A-G c.920A>G p.E307G Missense 8/9 - 1
10-89720770-G-GT c.921_922insT p.R308Sfs*4 Frameshift 8/9 - 1
10-89720771-C-G c.922C>G p.R308G Missense 8/9 - 1
10-89720771-CGT-GAG c.922_924delinsGAG p.R308E Missense 8/9 - 1
10-89720771-CGT-TGA c.922_924delinsTGA p.R308* Nonsense 8/9 - 1
10-89720772-G-A c.923G>A p.R308H Missense 8/9 - 3
10-89720774-G-A c.925G>A p.A309T Missense 8/9 - 2
10-89720774-GC-TA c.925_926delinsTA p.A309* Nonsense 8/9 - 1
10-89720774-G-GC c.926dup p.D310Rfs*2 Frameshift 8/9 - 1
10-89720774-G-GCC c.926_927insCC p.D310Qfs*8 Frameshift 8/9 - 1
10-89720776-CA-C c.927del p.D310Ifs*7 Frameshift 8/9 - 1
10-89720776-A-C c.927A>C p.A309= Synonymous 8/9 - 1
10-89720776-A-G c.927A>G p.A309= Synonymous 8/9 - 1
10-89720776-A-T c.927A>T p.A309= Synonymous 8/9 - 1
10-89720777-G-C c.928G>C p.D310H Missense 8/9 - 1
10-89720778-A-G c.929A>G p.D310G Missense 8/9 - 5
10-89720778-A-AT c.930dup p.N311* Nonsense 8/9 - 1
10-89720777-GAT-G c.930_931del p.D310Efs*2 Frameshift 8/9 - 1
10-89720780-AA-GC c.931_932delinsGC p.N311A Missense 8/9 - 1
10-89720780-A-C c.931A>C p.N311H Missense 8/9 - 1
10-89720781-A-AT c.933dup p.D312* Nonsense 8/9 - 1
10-89720782-T-TG c.934dup p.D312Gfs*13 Frameshift 8/9 - 2
10-89720785-C-CT c.936_937insT p.K313* Nonsense 8/9 - 1
10-89720786-AA-GC c.937_938delinsGC p.K313A Missense 8/9 - 1
10-89720786-A-T c.937A>T p.K313* Nonsense 8/9 - 1
10-89720787-A-G c.938A>G p.K313R Missense 8/9 - 2
10-89720785-CAAGG-C c.939_942del p.K313Nfs*3 Frameshift 8/9 - 1
10-89720789-GA-TC c.940_941inv p.E314S Missense 8/9 - 1
10-89720789-G-T c.940G>T p.E314* Nonsense 8/9 - 6
10-89720787-A-AG c.940dup p.E314Gfs*11 Frameshift 8/9 - 1
10-89720789-GA-G c.942del p.E314Dfs*3 Frameshift 8/9 - 1
10-89720792-T-C c.943T>C p.Y315H Missense 8/9 - 1
10-89720793-A-T c.944A>T p.Y315F Missense 8/9 - 6
10-89720794-T-A c.945T>A p.Y315* Nonsense 8/9 - 4
10-89720794-ATCT-A c.945_947del p.Y315_L316delins* MultiAAMissense 8/9 - 1
10-89720794-T-G c.945T>G p.Y315* Nonsense 8/9 - 2
10-89720795-C-A c.946C>A p.L316I Missense 8/9 - 1
10-89720796-T-C c.947T>C p.L316P Missense 8/9 - 2
10-89720796-CTAGTACTT-C c.947_954del p.L316Hfs*6 Frameshift 8/9 - 1
10-89720798-GT-TA c.949_950delinsTA p.V317* Nonsense 8/9 - 1
10-89720799-GTACTT-G c.950_954del p.V317Dfs*6 Frameshift 8/9 - 1
10-89720802-T-C c.953T>C p.L318P Missense 8/9 - 1
10-89720803-T-TTA c.954_955insTA p.T319* Nonsense 8/9 - 4
10-89720798-GTACT-G c.955_958del p.T319* Frameshift 8/9 - 31
10-89720804-ACT-TAA c.955_957delinsTAA p.T319* Nonsense 8/9 - 16
10-89720804-A-G c.955A>G p.T319A Missense 8/9 - 4
10-89720803-T-TA c.955dup p.T319Nfs*6 Frameshift 8/9 - 17
10-89720802-TTAC-T c.955_957del p.T319del InFrameDeletion 8/9 - 1
10-89720804-TACTTTAACAAAAAATGATCTTGACAAAGCAAATAAAGACAAA-T c.955_996del p.T319_K332del InFrameDeletion 8/9 - 1
10-89720804-AC-TA c.955_956delinsTA p.T319Y Missense 8/9 - 1
10-89720804-ACT-GAG c.955_957delinsGAG p.T319E Missense 8/9 - 1
10-89720805-ACT-A c.956_957del p.T319Ifs*5 Frameshift 8/9 - 1
10-89720805-ACTTT-A c.956_959del p.T319Kfs*24 Frameshift 8/9 - 6
10-89720805-C-A c.956C>A p.T319N Missense 8/9 - 1
10-89720806-T-C c.957T>C p.T319= Synonymous 8/9 - 3
10-89720806-T-A c.957T>A p.T319= Synonymous 8/9 - 2
10-89720806-T-G c.957T>G p.T319= Synonymous 8/9 - 2
10-89720807-T-G c.958T>G p.L320V Missense 8/9 - 1
10-89720807-TTA-GAC c.958_960delinsGAC p.L320D Missense 8/9 - 1
10-89720807-TT-GC c.958_959delinsGC p.L320A Missense 8/9 - 1
10-89720807-TT-GA c.958_959delinsGA p.L320E Missense 8/9 - 1
10-89720808-T-A c.959T>A p.L320* Nonsense 8/9 - 8
10-89720808-T-G c.959T>G p.L320* Nonsense 8/9 - 11
10-89720808-T-C c.959T>C p.L320S Missense 8/9 - 12
10-89720805-C-CT c.959dup p.L320Ffs*5 Frameshift 8/9 - 3
10-89720808-TA-T c.961del p.T321Qfs*23 Frameshift 8/9 - 1
10-89720810-A-G c.961A>G p.T321A Missense 8/9 - 4
10-89720810-AC-GA c.961_962delinsGA p.T321E Missense 8/9 - 1
10-89720811-C-T c.962C>T p.T321I Missense 8/9 - 1
10-89720811-C-CTGACAAGGAATATCTAGTACTT c.962_963insTGACAAGGAATATCTAGTACTT p.K322Dfs*10 Frameshift 8/9 - 1
10-89720811-AC-A c.962del p.T321Kfs*23 Frameshift 8/9 - 1
10-89720813-A-T c.964A>T p.K322* Nonsense 8/9 - 1
10-89720813-A-G c.964A>G p.K322E Missense 8/9 - 1
10-89720813-A-C c.964A>C p.K322Q Missense 8/9 - 1
10-89720814-A-G c.965A>G p.K322R Missense 8/9 - 2
10-89720815-A-AT c.966_967insT p.N323* Nonsense 8/9 - 3
10-89720811-C-CA c.968dup p.N323Kfs*2 Frameshift 8/9 - 15
10-89720811-CA-C c.968del p.N323Mfs*21 Frameshift 8/9 - 5
10-89720817-A-C c.968A>C p.N323T Missense 8/9 - 1
10-89720817-AT-TG c.968_969delinsTG p.N323M Missense 8/9 - 1
10-89720818-AT-A c.969del p.N323Kfs*21 Frameshift 8/9 - 2
10-89720818-T-G c.969T>G p.N323K Missense 8/9 - 1
10-89720818-T-A c.969T>A p.N323K Missense 8/9 - 1
10-89720819-G-T c.970G>T p.D324Y Missense 8/9 - 2
10-89720816-AATG-A c.970_972del p.D324del InFrameDeletion 8/9 - 1
10-89720818-T-TG c.970dup p.D324Gfs*3 Frameshift 8/9 - 1
10-89720819-G-A c.970G>A p.D324N Missense 8/9 - 1
10-89720822-C-T c.973C>T p.L325F Missense 8/9 - 7
10-89720822-C-G c.973C>G p.L325V Missense 8/9 - 1
10-89720823-T-C c.974T>C p.L325P Missense 8/9 - 3
10-89720823-T-G c.974T>G p.L325R Missense 8/9 - 3
10-89720823-T-A c.974T>A p.L325H Missense 8/9 - 1
10-89720822-C-CT c.975dup p.D326* Nonsense 8/9 - 1
10-89720825-G-A c.976G>A p.D326N Missense 8/9 - 15
10-89720825-G-T c.976G>T p.D326Y Missense 8/9 - 2
10-89720826-A-T c.977A>T p.D326V Missense 8/9 - 1
10-89720826-A-G c.977A>G p.D326G Missense 8/9 - 5
10-89720827-C-CT c.978_979insT p.K327* Nonsense 8/9 - 1
10-89720828-AA-GC c.979_980delinsGC p.K327A Missense 8/9 - 2
10-89720828-A-G c.979A>G p.K327E Missense 8/9 - 1
10-89720828-AAA-GAC c.979_981delinsGAC p.K327D Missense 8/9 - 1
10-89720828-A-T c.979A>T p.K327* Nonsense 8/9 - 1
10-89720829-A-G c.980A>G p.K327R Missense 8/9 - 1
10-89720827-CA-C c.981del p.A328Qfs*16 Frameshift 8/9 - 1
10-89720831-GC-TA c.982_983delinsTA p.A328* Nonsense 8/9 - 1
10-89720832-C-A c.983C>A p.A328E Missense 8/9 - 2
10-89720832-C-T c.983C>T p.A328V Missense 8/9 - 1
10-89720833-A-AT c.984_985insT p.N329* Nonsense 8/9 - 1
10-89720832-CAA-C c.985_986del p.N329* Frameshift 8/9 - 1
10-89720834-A-C c.985A>C p.N329H Missense 8/9 - 5
10-89720835-A-T c.986A>T p.N329I Missense 8/9 - 1
10-89720832-CA-C c.986del p.N329Ifs*15 Frameshift 8/9 - 1
10-89720835-A-AT c.987dup p.K330* Nonsense 8/9 - 2
10-89720832-CAAAT-C c.987_990del p.N329Kfs*14 Frameshift 8/9 - 3
10-89720836-T-G c.987T>G p.N329K Missense 8/9 - 1
10-89720836-T-A c.987T>A p.N329K Missense 8/9 - 1
10-89720837-AA-GC c.988_989delinsGC p.K330A Missense 8/9 - 2
10-89720837-A-G c.988A>G p.K330E Missense 8/9 - 1
10-89720837-AAA-GAC c.988_990delinsGAC p.K330D Missense 8/9 - 1
10-89720838-A-G c.989A>G p.K330R Missense 8/9 - 1
10-89720836-TA-T c.990del p.D331Tfs*13 Frameshift 8/9 - 2
10-89720839-A-AT c.990_991insT p.D331* Nonsense 8/9 - 1
10-89720839-A-C c.990A>C p.K330N Missense 8/9 - 1
10-89720839-A-T c.990A>T p.K330N Missense 8/9 - 1
10-89720841-A-C c.992A>C p.D331A Missense 8/9 - 5
10-89720841-A-G c.992A>G p.D331G Missense 8/9 - 7
10-89720842-ACAAAGCCAACCGATACTTTTCTCCAAATTTTAAGGTCAGTTAAATTAAACATTTTGTGG-A c.993_1026+25del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 8/9 8/8 1
10-89720843-AA-GC c.994_995delinsGC p.K332A Missense 8/9 - 1
10-89720843-AAA-GAC c.994_996delinsGAC p.K332D Missense 8/9 - 1
10-89720844-A-G c.995A>G p.K332R Missense 8/9 - 1
10-89720842-C-CA c.996dup p.A333Sfs*10 Frameshift 8/9 - 1
10-89720846-G-T c.997G>T p.A333S Missense 8/9 - 1
10-89720849-A-G c.1000A>G p.N334D Missense 8/9 - 2
10-89720851-C-T c.1002C>T p.N334= Synonymous 8/9 - 1
10-89720851-C-G c.1002C>G p.N334K Missense 8/9 - 1
10-89720851-C-A c.1002C>A p.N334K Missense 8/9 - 1
10-89720849-AACCGATACTTTTCTCC-A c.1002_1017del p.N334Kfs*5 Frameshift 8/9 - 1
10-89720852-C-T c.1003C>T p.R335* Nonsense 8/9 - 66
10-89720852-C-A c.1003C>A p.R335= Synonymous 8/9 - 2
10-89720852-CG-GC c.1003_1004delinsGC p.R335A Missense 8/9 - 2
10-89720852-CG-GT c.1003_1004delinsGT p.R335V Missense 8/9 - 1
10-89720852-CGA-GAC c.1003_1005delinsGAC p.R335D Missense 8/9 - 1
10-89720852-CGA-TGT c.1003_1005delinsTGT p.R335C Missense 8/9 - 1
10-89720852-C-G c.1003C>G p.R335G Missense 8/9 - 1
10-89720853-G-A c.1004G>A p.R335Q Missense 8/9 - 7
10-89720853-G-T c.1004G>T p.R335L Missense 8/9 - 7
10-89720853-CGATACTTTTCT-C c.1004_1014del p.R335Pfs*4 Frameshift 8/9 - 1
10-89720855-T-C c.1006T>C p.Y336H Missense 8/9 - 1
10-89720856-A-T c.1007A>T p.Y336F Missense 8/9 - 2
10-89720855-T-TA c.1007dup p.Y336* Nonsense 8/9 - 4
10-89720857-C-A c.1008C>A p.Y336* Nonsense 8/9 - 8
10-89720857-C-G c.1008C>G p.Y336* Nonsense 8/9 - 12
10-89720857-AC-A c.1008del p.S338Lfs*6 Frameshift 8/9 - 1
10-89720858-T-C c.1009T>C p.F337L Missense 8/9 - 1
10-89720860-T-A c.1011T>A p.F337L Missense 8/9 - 1
10-89720860-T-G c.1011T>G p.F337L Missense 8/9 - 1
10-89720859-T-G c.1010T>G p.F337C Missense 8/9 - 2
10-89720859-T-C c.1010T>C p.F337S Missense 8/9 - 2
10-89720857-CT-C c.1012del p.S338Lfs*6 Frameshift 8/9 - 4
10-89720861-TC-CT c.1012_1013delinsCT p.S338L Missense 8/9 - 1
10-89720861-T-A c.1012T>A p.S338T Missense 8/9 - 1
10-89720862-C-T c.1013C>T p.S338F Missense 8/9 - 1
10-89720864-C-G c.1015C>G p.P339A Missense 8/9 - 1
10-89720864-C-T c.1015C>T p.P339S Missense 8/9 - 3
10-89720865-C-T c.1016C>T p.P339L Missense 8/9 - 2
10-89720865-C-A c.1016C>A p.P339Q Missense 8/9 - 1
10-89720866-A-AT c.1017_1018insT p.N340* Nonsense 8/9 - 3
10-89720867-AAT-CAA c.1018_1020delinsCAA p.N340Q Missense 8/9 - 3
10-89720865-CA-C c.1019del p.N340Ifs*4 Frameshift 8/9 - 1
10-89720867-AATTTT-A c.1020_1024del p.N340Kfs*19 Frameshift 8/9 - 2
10-89720870-T-G c.1021T>G p.F341V Missense 8/9 - 11
10-89720870-T-C c.1021T>C p.F341L Missense 8/9 - 2
10-89720872-T-A c.1023T>A p.F341L Missense 8/9 - 1
10-89720871-T-G c.1022T>G p.F341C Missense 8/9 - 3
10-89720871-T-A c.1022T>A p.F341Y Missense 8/9 - 1
10-89720872-T-G c.1023T>G p.F341L Missense 8/9 - 3
10-89720868-AT-A c.1023del p.F341Lfs*3 Frameshift 8/9 - 5
10-89720873-TAAG-T c.1024_1026del p.K342del InFrameDeletion 8/9 - 1
10-89720873-A-G c.1024A>G p.K342E Missense 8/9 - 1
10-89720874-A-C c.1025A>C p.K342T Missense 8/9 - 1
10-89720874-A-G c.1025A>G p.K342R Missense 8/9 - 2
10-89720875-G-C c.1026G>C p.K342N Missense 8/9 - 8
10-89720875-G-A c.1026G>A p.K342= Synonymous 8/9 - 2
10-89720875-G-T c.1026G>T p.K342N Missense 8/9 - 6
10-89720876-G-A c.1026+1G>A - IntronicSNV - 8/8 9
10-89720876-G-C c.1026+1G>C - IntronicSNV - 8/8 4
10-89720907-T-G c.1026+32T>G - IntronicSNV - 8/8 12
10-89721094-C-T c.1026+219C>T - IntronicSNV - 8/8 4
10-89721412-C-T c.1026+537C>T - IntronicSNV - 8/8 5
10-89722731-T-C c.1026+1856T>C - IntronicSNV - 8/8 1
10-89723342-C-T c.1027-1702C>T - IntronicSNV - 8/8 8
10-89725044-G-C c.1027G>C p.V343L Missense 9/9 - 1
10-89725044-G-T c.1027G>T p.V343L Missense 9/9 - 1
10-89725042-AG-A c.1027del p.V343* Frameshift 9/9 - 1
10-89725042-A-AG c.1027dup p.V343Gfs*18 SpliceAcceptorInsertion 9/9 - 1
10-89725044-G-A c.1027G>A p.V343M Missense 9/9 - 1
10-89725045-T-A c.1028T>A p.V343E Missense 9/9 - 7
10-89725045-T-G c.1028T>G p.V343G Missense 9/9 - 1
10-89725046-G-GT c.1029_1030insT p.K344* Nonsense 9/9 - 1
10-89725047-A-G c.1030A>G p.K344E Missense 9/9 - 3
10-89725048-A-G c.1031A>G p.K344R Missense 9/9 - 4
10-89725048-AAGCTGTACTT-A c.1031_1040del p.K344Tfs*5 Frameshift 9/9 - 1
10-89725050-C-G c.1033C>G p.L345V Missense 9/9 - 7
10-89725050-CTG-TTT c.1033_1035delinsTTT p.L345F Missense 9/9 - 1
10-89725051-T-A c.1034T>A p.L345Q Missense 9/9 - 5
10-89725051-T-C c.1034T>C p.L345P Missense 9/9 - 2
10-89725053-T-C c.1036T>C p.Y346H Missense 9/9 - 1
10-89725054-A-G c.1037A>G p.Y346C Missense 9/9 - 2
10-89725055-C-G c.1038C>G p.Y346* Nonsense 9/9 - 3
10-89725055-C-A c.1038C>A p.Y346* Nonsense 9/9 - 2
10-89725056-T-G c.1039T>G p.F347V Missense 9/9 - 1
10-89725056-T-C c.1039T>C p.F347L Missense 9/9 - 7
10-89725058-C-A c.1041C>A p.F347L Missense 9/9 - 4
10-89725058-C-G c.1041C>G p.F347L Missense 9/9 - 4
10-89725057-T-C c.1040T>C p.F347S Missense 9/9 - 1
10-89725059-A-G c.1042A>G p.T348A Missense 9/9 - 1
10-89725059-ACA-GAC c.1042_1044delinsGAC p.T348D Missense 9/9 - 1
10-89725060-C-T c.1043C>T p.T348I Missense 9/9 - 3
10-89725060-C-A c.1043C>A p.T348K Missense 9/9 - 1
10-89725063-A-G c.1046A>G p.K349R Missense 9/9 - 3
10-89725060-CA-C c.1048del p.T350Qfs*2 Frameshift 9/9 - 1
10-89725066-C-T c.1049C>T p.T350I Missense 9/9 - 1
10-89725066-CAGT-C c.1052_1054del p.V351del InFrameDeletion 9/9 - 1
10-89725069-T-C c.1052T>C p.V351A Missense 9/9 - 1
10-89725072-A-G c.1055A>G p.E352G Missense 9/9 - 1
10-89725074-G-A c.1057G>A p.E353K Missense 9/9 - 1
10-89725077-CC-TG c.1060_1061delinsTG p.P354W Missense 9/9 - 1
10-89725077-C-T c.1060C>T p.P354S Missense 9/9 - 1
10-89725078-C-A c.1061C>A p.P354Q Missense 9/9 - 6
10-89725078-C-T c.1061C>T p.P354L Missense 9/9 - 1
10-89725083-A-G c.1066A>G p.N356D Missense 9/9 - 3
10-89725083-A-C c.1066A>C p.N356H Missense 9/9 - 1
10-89725092-G-A c.1075G>A p.A359T Missense 9/9 - 1
10-89725093-C-T c.1076C>T p.A359V Missense 9/9 - 2
10-89725095-AG-GC c.1078_1079delinsGC p.S360A Missense 9/9 - 1
10-89725095-A-G c.1078A>G p.S360G Missense 9/9 - 1
10-89725098-AG-GC c.1081_1082delinsGC p.S361A Missense 9/9 - 1
10-89725099-G-A c.1082G>A p.S361N Missense 9/9 - 2
10-89725100-T-G c.1083T>G p.S361R Missense 9/9 - 1
10-89725100-T-A c.1083T>A p.S361R Missense 9/9 - 1
10-89725098-A-C c.1081A>C p.S361R Missense 9/9 - 1
10-89725101-T-G c.1084T>G p.S362A Missense 9/9 - 2
10-89725102-C-T c.1085C>T p.S362L Missense 9/9 - 1
10-89725105-C-A c.1088C>A p.T363N Missense 9/9 - 1
10-89725105-C-T c.1088C>T p.T363I Missense 9/9 - 1
10-89725106-T-A c.1089T>A p.T363= Synonymous 9/9 - 1
10-89725107-T-G c.1090T>G p.S364A Missense 9/9 - 2
10-89725107-T-C c.1090T>C p.S364P Missense 9/9 - 1
10-89725108-C-G c.1091C>G p.S364C Missense 9/9 - 1
10-89725109-T-G c.1092T>G p.S364= Synonymous 9/9 - 1
10-89725109-T-C c.1092T>C p.S364= Synonymous 9/9 - 1
10-89725109-T-A c.1092T>A p.S364= Synonymous 9/9 - 1
10-89725110-G-A c.1093G>A p.V365I Missense 9/9 - 1
10-89725111-T-A c.1094T>A p.V365E Missense 9/9 - 1
10-89725113-A-G c.1096A>G p.T366A Missense 9/9 - 15
10-89725111-TA-T c.1096del p.T366Hfs*50 Frameshift 9/9 - 1
10-89725113-ACA-GAC c.1096_1098delinsGAC p.T366D Missense 9/9 - 1
10-89725113-ACA-TGG c.1096_1098delinsTGG p.T366W Missense 9/9 - 1
10-89725113-A-T c.1096A>T p.T366S Missense 9/9 - 1
10-89725114-CA-TG c.1097_1098inv p.T366M Missense 9/9 - 1
10-89725121-T-C c.1104T>C p.D368= Synonymous 9/9 - 2
10-89725123-T-C c.1106T>C p.V369A Missense 9/9 - 1
10-89725125-AG-GC c.1108_1109delinsGC p.S370A Missense 9/9 - 16
10-89725125-AG-GA c.1108_1109delinsGA p.S370D Missense 9/9 - 2
10-89725124-TAGTG-T c.1109_1112del p.S370Tfs*45 Frameshift 9/9 - 1
10-89725126-G-GT c.1110dup p.D371* Nonsense 9/9 - 1
10-89725128-G-A c.1111G>A p.D371N Missense 9/9 - 1
10-89725131-CAAT-C c.1114_1116del p.N372del InFrameDeletion 9/9 - 1
10-89725134-G-A c.1117G>A p.E373K Missense 9/9 - 1
10-89725135-A-G c.1118A>G p.E373G Missense 9/9 - 1
10-89725135-A-T c.1118A>T p.E373V Missense 9/9 - 1
10-89725134-GA-G c.1119del p.E373Dfs*43 Frameshift 9/9 - 1
10-89725137-C-A c.1120C>A p.P374T Missense 9/9 - 1
10-89725137-C-G c.1120C>G p.P374A Missense 9/9 - 1
10-89725140-G-A c.1123G>A p.D375N Missense 9/9 - 1
10-89725142-T-TA c.1125_1126insA p.H376Tfs*3 Frameshift 9/9 - 1
10-89725143-CA-GC c.1126_1127delinsGC p.H376A Missense 9/9 - 1
10-89725146-TA-CC c.1129_1130delinsCC p.Y377P Missense 9/9 - 1
10-89725149-AG-GC c.1132_1133delinsGC p.R378A Missense 9/9 - 1
10-89725146-TATAG-T c.1133_1136del p.R378Ifs*37 Frameshift 9/9 - 4
10-89725148-TAG-T c.1133_1134del p.R378Ifs*3 Frameshift 9/9 - 1
10-89725150-G-T c.1133G>T p.R378I Missense 9/9 - 1
10-89725150-G-A c.1133G>A p.R378K Missense 9/9 - 1
10-89725152-T-A c.1135T>A p.Y379N Missense 9/9 - 1
10-89725152-T-G c.1135T>G p.Y379D Missense 9/9 - 1
10-89725153-A-G c.1136A>G p.Y379C Missense 9/9 - 8
10-89725155-T-G c.1138T>G p.S380A Missense 9/9 - 40
10-89725155-T-A c.1138T>A p.S380T Missense 9/9 - 1
10-89725155-TCT-GAG c.1138_1140delinsGAG p.S380E Missense 9/9 - 6
10-89725155-T-C c.1138T>C p.S380P Missense 9/9 - 1
10-89725155-TC-GA c.1138_1139inv p.S380D Missense 9/9 - 3
10-89725156-C-T c.1139C>T p.S380F Missense 9/9 - 1
10-89725159-A-T c.1142A>T p.D381V Missense 9/9 - 2
10-89725160-C-T c.1143C>T p.D381= Synonymous 9/9 - 1
10-89725161-A-G c.1144A>G p.T382A Missense 9/9 - 32
10-89725161-ACC-GAG c.1144_1146delinsGAG p.T382E Missense 9/9 - 4
10-89725161-AC-GA c.1144_1145delinsGA p.T382D Missense 9/9 - 1
10-89725162-C-T c.1145C>T p.T382I Missense 9/9 - 1
10-89725162-C-G c.1145C>G p.T382S Missense 9/9 - 1
10-89725161-A-T c.1144A>T p.T382S Missense 9/9 - 1
10-89725164-A-G c.1147A>G p.T383A Missense 9/9 - 39
10-89725164-ACT-GAG c.1147_1149delinsGAG p.T383E Missense 9/9 - 6
10-89725164-AC-GA c.1147_1148delinsGA p.T383D Missense 9/9 - 2
10-89725164-A-C c.1147A>C p.T383P Missense 9/9 - 1
10-89725165-C-T c.1148C>T p.T383I Missense 9/9 - 1
10-89725167-G-A c.1150G>A p.D384N Missense 9/9 - 1
10-89725168-A-T c.1151A>T p.D384V Missense 9/9 - 2
10-89725170-T-G c.1153T>G p.S385A Missense 9/9 - 23
10-89725170-TCT-GAG c.1153_1155delinsGAG p.S385E Missense 9/9 - 3
10-89725170-TC-GA c.1153_1154inv p.S385D Missense 9/9 - 1
10-89725177-C-T c.1160C>T p.P387L Missense 9/9 - 1
10-89725179-G-C c.1162G>C p.E388Q Missense 9/9 - 1
10-89725179-GA-AG c.1162_1163delinsAG p.E388R Missense 9/9 - 1
10-89725184-T-G c.1167T>G p.N389K Missense 9/9 - 1
10-89725188-C-T c.1171C>T p.P391S Missense 9/9 - 2
10-89725189-C-T c.1172C>T p.P391L Missense 9/9 - 1
10-89725189-C-A c.1172C>A p.P391H Missense 9/9 - 1
10-89725189-CT-C c.1176del p.F392Lfs*24 Frameshift 9/9 - 1
10-89725194-GAT-TAA c.1177_1179delinsTAA p.D393* Nonsense 9/9 - 1
10-89725195-A-C c.1178A>C p.D393A Missense 9/9 - 2
10-89725192-TTGA-T c.1179_1181del p.D393del InFrameDeletion 9/9 - 1
10-89725197-G-A c.1180G>A p.E394K Missense 9/9 - 4
10-89725201-A-C c.1184A>C p.D395A Missense 9/9 - 1
10-89725206-C-T c.1189C>T p.H397Y Missense 9/9 - 4
10-89725207-A-G c.1190A>G p.H397R Missense 9/9 - 2
10-89725208-T-A c.1191T>A p.H397Q Missense 9/9 - 1
10-89725208-T-G c.1191T>G p.H397Q Missense 9/9 - 1
10-89725209-A-T c.1192A>T p.T398S Missense 9/9 - 3
10-89725209-AC-CA c.1192_1193delinsCA p.T398Q Missense 9/9 - 1
10-89725209-AC-GA c.1192_1193delinsGA p.T398E Missense 9/9 - 1
10-89725209-ACA-GAC c.1192_1194delinsGAC p.T398D Missense 9/9 - 1
10-89725209-A-G c.1192A>G p.T398A Missense 9/9 - 5
10-89725210-CA-AC c.1193_1194delinsAC p.T398N Missense 9/9 - 1
10-89725212-C-T c.1195C>T p.Q399* Nonsense 9/9 - 2
10-89725214-A-T c.1197A>T p.Q399H Missense 9/9 - 1
10-89725214-A-C c.1197A>C p.Q399H Missense 9/9 - 1
10-89725215-A-G c.1198A>G p.I400V Missense 9/9 - 1
10-89725219-C-T c.1202C>T p.T401I Missense 9/9 - 3
10-89725221-A-G c.1204A>G p.K402E Missense 9/9 - 1
10-89725221-A-C c.1204A>C p.K402Q Missense 9/9 - 1
10-89725222-A-G c.1205A>G p.K402R Missense 9/9 - 2
10-89725223-A-C c.1206A>C p.K402N Missense 9/9 - 1
10-89725223-A-T c.1206A>T p.K402N Missense 9/9 - 1
10-89725227-T-G c.1210T>G p.*404Gext*8 Missense 9/9 - 1
10-89725228-G-C c.1211G>C p.*404Sext*8 Missense 9/9 - 1
10-89725294-T-C c.*65T>C - 3-UTRSNV 9/9 - 1
10-89725304-T-A c.*75T>A - 3-UTRSNV 9/9 - 1
10-89725454-T-G c.*225T>G - 3-UTRSNV 9/9 - 1
10-89725995-G-A c.*766G>A - 3-UTRSNV 9/9 - 1
10-89726381-C-T c.*1152C>T - 3-UTRSNV 9/9 - 1
10-89726624-C-A c.*1395C>A - 3-UTRSNV 9/9 - 1
10-89726728-C-T c.*1499C>T - 3-UTRSNV 9/9 - 1
10-89726745-T-C c.*1516T>C - 3-UTRSNV 9/9 - 22
10-89727414-C-T c.*2185C>T - 3-UTRSNV 9/9 - 8
10-89727452-G-T c.*2223G>T - 3-UTRSNV 9/9 - 1
10-89728018-C-G c.*2789C>G - 3-UTRSNV 9/9 - 1