GAA

GAA alpha glucosidase

Annotation transcript: NM_000152.5

12164 unique variant annotations were identified in 2270 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
17-78075384-C-G c.-338C>G - 5_prime_UTR_variant 1/20 - 1
17-78075462-G-A c.-260G>A - 5_prime_UTR_variant 1/20 - 2
17-78075462-G-C c.-260G>C - 5_prime_UTR_variant 1/20 - 2
17-78075647-C-A c.-75C>A - 5_prime_UTR_variant 1/20 - 1
17-78075647-C-G c.-75C>G - 5_prime_UTR_variant 1/20 - 1
17-78075647-C-T c.-75C>T - 5_prime_UTR_variant 1/20 - 1
17-78075908-G-A c.-33+219G>A - intron_variant - 1/19 3
17-78075908-G-C c.-33+219G>C - intron_variant - 1/19 3
17-78076005-C-A c.-33+316C>A - intron_variant - 1/19 1
17-78076006-C-T c.-33+317C>T - intron_variant - 1/19 1
17-78076360-A-C c.-33+671A>C - intron_variant - 1/19 1
17-78076446-G-A c.-33+757G>A - intron_variant - 1/19 1
17-78076446-G-C c.-33+757G>C - intron_variant - 1/19 1
17-78076592-A-C c.-33+903A>C - intron_variant - 1/19 2
17-78076793-A-G c.-33+1104A>G - intron_variant - 1/19 1
17-78076861-G-A c.-33+1172G>A - intron_variant - 1/19 1
17-78076879-G-T c.-33+1190G>T - intron_variant - 1/19 1
17-78076998-T-C c.-33+1309T>C - intron_variant - 1/19 1
17-78077056-G-C c.-32-1298G>C - IntronicSNV - 1/19 1
17-78077056-G-T c.-32-1298G>T - IntronicSNV - 1/19 1
17-78077230-C-T c.-32-1124C>T - IntronicSNV - 1/19 1
17-78077470-T-C c.-32-884T>C - IntronicSNV - 1/19 1
17-78077561-C-A c.-32-793C>A - IntronicSNV - 1/19 1
17-78077561-C-G c.-32-793C>G - IntronicSNV - 1/19 1
17-78077633-G-C c.-32-721G>C - IntronicSNV - 1/19 1
17-78077668-A-G c.-32-686A>G - IntronicSNV - 1/19 1
17-78077714-C-A c.-32-640C>A - IntronicSNV - 1/19 2
17-78077714-C-T c.-32-640C>T - IntronicSNV - 1/19 2
17-78077833-G-A c.-32-521G>A - IntronicSNV - 1/19 1
17-78077833-G-C c.-32-521G>C - IntronicSNV - 1/19 1
17-78077833-G-T c.-32-521G>T - IntronicSNV - 1/19 1
17-78077860-C-G c.-32-494C>G - IntronicSNV - 1/19 1
17-78077860-C-T c.-32-494C>T - IntronicSNV - 1/19 1
17-78077892-G-A c.-32-462G>A - IntronicSNV - 1/19 1
17-78077892-G-C c.-32-462G>C - IntronicSNV - 1/19 1
17-78075544-G-A c.-178G>A - IntronicSNV 1/20 - 1
17-78075544-G-C c.-178G>C - IntronicSNV 1/20 - 1
17-78078341-T-G c.-32-13T>G - IntronicSNV - 1/19 11
17-78078354-G-A c.-32G>A - 5-UTRSNV 2/20 - 1
17-78078384-CCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCT-C c.1_36del p.MGVRHPPCSHRL1_?12 CdsStartDeletion 2/20 - 1
17-78078384-C-CCAAT c.1_2insATCA p.M1? CdsStartInsertion 2/20 - 2
17-78078385-C-CA c.1dup p.M1? CdsStartInsertion 2/20 - 8
17-78078385-C-CAAAG c.1_2insAAGA p.M1? CdsStartInsertion 2/20 - 1
17-78078386-A-AACACCCCTATGGTCAGAATCAACAAGATTGGGAAGAAGTTCGGCCTGAAGTGTGAGCTCT c.1_2insACACCCCTATGGTCAGAATCAACAAGATTGGGAAGAAGTTCGGCCTGAAGTGTGAGCTCT p.M1? CdsStartInsertion 2/20 - 1
17-78078386-A-C c.1A>C p.M1? Missense 2/20 - 1
17-78078386-A-G c.1A>G p.M1? Missense 2/20 - 12
17-78078386-A-T c.1A>T p.M1? Missense 2/20 - 5
17-78078386-CA-C c.1del p.M1? CdsStartDeletion 2/20 - 5
17-78078386-CAT-C c.1_2del p.M1? CdsStartDeletion 2/20 - 1
17-78078387-AT-A c.2del p.M1? CdsStartDeletion 2/20 - 2
17-78078387-T-A c.2T>A p.M1? Missense 2/20 - 2
17-78078387-T-C c.2T>C p.M1? Missense 2/20 - 4
17-78078387-T-G c.2T>G p.M1? Missense 2/20 - 2
17-78078387-T-TA c.2_3insA p.M1? Frameshift 2/20 - 1
17-78078388-G-A c.3G>A p.M1? Missense 2/20 - 14
17-78078388-G-C c.3G>C p.M1? Missense 2/20 - 4
17-78078388-G-GAAAAATAAATGC c.3_4insAAAAATAAATGC p.M1_G2insKNKC InFrameInsertion 2/20 - 1
17-78078388-G-T c.3G>T p.M1? Missense 2/20 - 5
17-78078387-TGG-T c.4_5del p.G2Sfs*32 Frameshift 2/20 - 1
17-78078389-G-A c.4G>A p.G2R Missense 2/20 - 5
17-78078389-G-C c.4G>C p.G2R Missense 2/20 - 2
17-78078389-GGA-AGC c.4_6delinsAGC p.G2S Missense 2/20 - 1
17-78078389-G-GTATA c.4_5insTATA p.G2Vfs*2 Frameshift 2/20 - 1
17-78078389-G-T c.4G>T p.G2* Nonsense 2/20 - 2
17-78078387-TG-T c.5del p.G2Efs*2 Frameshift 2/20 - 1
17-78078390-G-A c.5G>A p.G2E Missense 2/20 - 5
17-78078390-GA-AC c.5_6delinsAC p.G2D Missense 2/20 - 2
17-78078390-G-C c.5G>C p.G2A Missense 2/20 - 3
17-78078390-G-GGACTCACACGATGCT c.5_6insGACTCACACGATGCT p.G2_V3insTHTML InFrameInsertion 2/20 - 1
17-78078390-G-T c.5G>T p.G2V Missense 2/20 - 1
17-78078390-G-GA c.6dup p.V3Sfs*32 Frameshift 2/20 - 1
17-78078390-G-GAC c.6_7insCA p.V3Qfs*2 Frameshift 2/20 - 1
17-78078391-A-C c.6A>C p.G2= Synonymous 2/20 - 3
17-78078391-A-G c.6A>G p.G2= Synonymous 2/20 - 3
17-78078391-A-T c.6A>T p.G2= Synonymous 2/20 - 3
17-78078391-GA-G c.6del p.V3* Frameshift 2/20 - 2
17-78078392-G-A c.7G>A p.V3M Missense 2/20 - 5
17-78078392-G-C c.7G>C p.V3L Missense 2/20 - 1
17-78078392-G-T c.7G>T p.V3L Missense 2/20 - 1
17-78078392-GTG-ATC c.7_9delinsATC p.V3I Missense 2/20 - 2
17-78078392-G-GTA c.8_9insAT p.R4* Nonsense 2/20 - 1
17-78078392-G-GTTAT c.8_9insTATT p.R4Ifs*32 Frameshift 2/20 - 1
17-78078393-T-C c.8T>C p.V3A Missense 2/20 - 3
17-78078393-T-G c.8T>G p.V3G Missense 2/20 - 1
17-78078394-G-A c.9G>A p.V3= Synonymous 2/20 - 5
17-78078394-G-GT c.9_10insT p.R4* Nonsense 2/20 - 2
17-78078394-G-T c.9G>T p.V3= Synonymous 2/20 - 1
17-78078393-TGAG-T c.10_12del p.R4del InFrameDeletion 2/20 - 1
17-78078394-G-GA c.10dup p.R4Kfs*31 Frameshift 2/20 - 1
17-78078395-A-G c.10A>G p.R4G Missense 2/20 - 3
17-78078395-AGG-CAT c.10_12delinsCAT p.R4H Missense 2/20 - 1
17-78078395-AGG-TGT c.10_12delinsTGT p.R4C Missense 2/20 - 3
17-78078395-AG-TA c.10_11delinsTA p.R4* Nonsense 2/20 - 1
17-78078395-A-T c.10A>T p.R4W Missense 2/20 - 2
17-78078395-GA-G c.10del p.R4Gfs*39 Frameshift 2/20 - 2
17-78078396-G-A c.11G>A p.R4K Missense 2/20 - 3
17-78078395-A-AG c.12dup p.H5Afs*30 Frameshift 2/20 - 1
17-78078395-A-C c.10A>C p.R4= Synonymous 2/20 - 2
17-78078395-AG-A c.12del p.R4Sfs*39 Frameshift 2/20 - 3
17-78078397-G-A c.12G>A p.R4= Synonymous 2/20 - 5
17-78078397-G-C c.12G>C p.R4S Missense 2/20 - 2
17-78078397-G-GTCCCTGAGCAGGAGGAAGATGAACTTCACCGCACTCTGGGC c.12_13insTCCCTGAGCAGGAGGAAGATGAACTTCACCGCACTCTGGGC p.H5Sfs*52 Frameshift 2/20 - 1
17-78078397-G-T c.12G>T p.R4S Missense 2/20 - 2
17-78078398-CAC-GAG c.13_15delinsGAG p.H5E Missense 2/20 - 1
17-78078398-C-T c.13C>T p.H5Y Missense 2/20 - 5
17-78078398-C-CA c.14dup p.H5Qfs*30 Frameshift 2/20 - 2
17-78078399-A-C c.14A>C p.H5P Missense 2/20 - 3
17-78078399-A-G c.14A>G p.H5R Missense 2/20 - 3
17-78078399-A-T c.14A>T p.H5L Missense 2/20 - 2
17-78078399-CA-C c.14del p.H5Pfs*38 Frameshift 2/20 - 1
17-78078399-A-ACTT c.15_16insTTC p.H5_P6insF InFrameInsertion 2/20 - 1
17-78078400-ACCC-A c.15_17del p.H5_P6delinsQ MultiAAMissense 2/20 - 1
17-78078400-C-A c.15C>A p.H5Q Missense 2/20 - 3
17-78078400-C-CTT c.15_16insTT p.P6Ffs*38 Frameshift 2/20 - 1
17-78078400-C-G c.15C>G p.H5Q Missense 2/20 - 1
17-78078400-C-T c.15C>T p.H5= Synonymous 2/20 - 6
17-78078400-C-CCTACAA c.16_17insTACAAC p.H5_P6insLQ InFrameInsertion 2/20 - 1
17-78078401-C-A c.16C>A p.P6T Missense 2/20 - 1
17-78078401-C-G c.16C>G p.P6A Missense 2/20 - 1
17-78078401-C-T c.16C>T p.P6S Missense 2/20 - 4
17-78078399-A-AC c.17dup p.P7Afs*28 Frameshift 2/20 - 1
17-78078399-AC-A c.17del p.P6Rfs*37 Frameshift 2/20 - 1
17-78078401-C-CCCT c.17_18insCTC p.P6_P7insS InFrameInsertion 2/20 - 1
17-78078402-C-A c.17C>A p.P6Q Missense 2/20 - 2
17-78078402-C-G c.17C>G p.P6R Missense 2/20 - 1
17-78078402-CG-AT c.17_18delinsAT p.P6H Missense 2/20 - 1
17-78078402-C-T c.17C>T p.P6L Missense 2/20 - 3
17-78078403-CGCCCTGCT-C c.18_25del p.C8Pfs*24 Frameshift 2/20 - 1
17-78078403-G-A c.18G>A p.P6= Synonymous 2/20 - 5
17-78078403-G-C c.18G>C p.P6= Synonymous 2/20 - 4
17-78078403-G-T c.18G>T p.P6= Synonymous 2/20 - 4
17-78078402-C-CGCA c.19_20insAGC p.P6_P7insQ InFrameInsertion 2/20 - 1
17-78078404-C-A c.19C>A p.P7T Missense 2/20 - 2
17-78078404-C-G c.19C>G p.P7A Missense 2/20 - 2
17-78078404-C-T c.19C>T p.P7S Missense 2/20 - 3
17-78078405-C-A c.20C>A p.P7H Missense 2/20 - 3
17-78078405-C-CA c.20_21insA p.C8Lfs*27 Frameshift 2/20 - 1
17-78078405-C-G c.20C>G p.P7R Missense 2/20 - 1
17-78078405-C-T c.20C>T p.P7L Missense 2/20 - 6
17-78078403-GC-G c.21del p.C8Afs*35 Frameshift 2/20 - 1
17-78078406-C-A c.21C>A p.P7= Synonymous 2/20 - 6
17-78078406-C-G c.21C>G p.P7= Synonymous 2/20 - 5
17-78078406-C-T c.21C>T p.P7= Synonymous 2/20 - 8
17-78078406-C-CT c.22dup p.C8Lfs*27 Frameshift 2/20 - 1
17-78078407-T-A c.22T>A p.C8S Missense 2/20 - 2
17-78078407-T-C c.22T>C p.C8R Missense 2/20 - 2
17-78078407-T-G c.22T>G p.C8G Missense 2/20 - 1
17-78078407-TG-CT c.22_23delinsCT p.C8L Missense 2/20 - 1
17-78078406-C-CTGTACTAT c.23_24insTACTATTG p.S9Tfs*37 Frameshift 2/20 - 1
17-78078408-G-A c.23G>A p.C8Y Missense 2/20 - 3
17-78078408-G-C c.23G>C p.C8S Missense 2/20 - 1
17-78078408-G-GTTC c.23_24insTTC p.S9dup InFrameInsertion 2/20 - 1
17-78078408-G-T c.23G>T p.C8F Missense 2/20 - 5
17-78078407-TGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTG-T c.24_82del p.C8Wfs*7 Frameshift 2/20 - 1
17-78078409-C-A c.24C>A p.C8* Nonsense 2/20 - 2
17-78078409-C-G c.24C>G p.C8W Missense 2/20 - 1
17-78078409-C-T c.24C>T p.C8= Synonymous 2/20 - 7
17-78078408-G-GCTTTT c.25_26insTTTCT p.S9Ffs*36 Frameshift 2/20 - 1
17-78078410-T-A c.25T>A p.S9T Missense 2/20 - 1
17-78078410-T-C c.25T>C p.S9P Missense 2/20 - 4
17-78078410-TC-AA c.25_26delinsAA p.S9N Missense 2/20 - 3
17-78078410-TC-CT c.25_26delinsCT p.S9L Missense 2/20 - 1
17-78078410-T-G c.25T>G p.S9A Missense 2/20 - 2
17-78078410-T-TGCCTTC c.25_26insGCCTTC p.S9delinsCLP MultiAAMissense 2/20 - 1
17-78078409-CTCCCACCGGCTCCTGGCCGTCTGCGCCCTCG-C c.26_56del p.S9Cfs*24 Frameshift 2/20 - 1
17-78078411-C-A c.26C>A p.S9Y Missense 2/20 - 3
17-78078411-C-CAAAA c.26_27insAAAA p.H10Kfs*26 Frameshift 2/20 - 1
17-78078411-C-G c.26C>G p.S9C Missense 2/20 - 2
17-78078411-C-T c.26C>T p.S9F Missense 2/20 - 5
17-78078411-C-CCTCCCTGAGCAGGAGGAAGATGAACTTCACCGCACTCTGGG c.27_28insTCCCTGAGCAGGAGGAAGATGAACTTCACCGCACTCTGGGC p.H10Sfs*47 Frameshift 2/20 - 1
17-78078412-C-A c.27C>A p.S9= Synonymous 2/20 - 3
17-78078412-C-CA c.27_28insA p.H10Tfs*25 Frameshift 2/20 - 1
17-78078412-C-CTT c.27_28insTT p.H10Ffs*34 Frameshift 2/20 - 1
17-78078412-C-G c.27C>G p.S9= Synonymous 2/20 - 4
17-78078412-C-T c.27C>T p.S9= Synonymous 2/20 - 7
17-78078410-TC-T c.28del p.H10Tfs*33 Frameshift 2/20 - 1
17-78078412-C-CCTATATT c.28_29insTATATTC p.H10Lfs*27 Frameshift 2/20 - 1
17-78078413-C-A c.28C>A p.H10N Missense 2/20 - 2
17-78078413-CA-GC c.28_29delinsGC p.H10A Missense 2/20 - 3
17-78078413-C-G c.28C>G p.H10D Missense 2/20 - 3
17-78078413-C-T c.28C>T p.H10Y Missense 2/20 - 3
17-78078411-CCCA-C c.29_31del p.H10del InFrameDeletion 2/20 - 1
17-78078413-C-CAAT c.29_30insATA p.H10delinsQY MultiAAMissense 2/20 - 1
17-78078414-A-C c.29A>C p.H10P Missense 2/20 - 2
17-78078414-A-G c.29A>G p.H10R Missense 2/20 - 3
17-78078414-A-T c.29A>T p.H10L Missense 2/20 - 1
17-78078414-CA-C c.29del p.H10Pfs*33 Frameshift 2/20 - 4
17-78078415-C-A c.30C>A p.H10Q Missense 2/20 - 3
17-78078415-C-G c.30C>G p.H10Q Missense 2/20 - 2
17-78078415-C-T c.30C>T p.H10= Synonymous 2/20 - 6
17-78078414-A-AC c.31dup p.R11Pfs*24 Frameshift 2/20 - 2
17-78078414-A-ACCCTGTGTATT c.31_32insCTGTGTATTCC p.R11Pfs*36 Frameshift 2/20 - 1
17-78078414-AC-A c.31del p.R11Gfs*32 Frameshift 2/20 - 1
17-78078416-C-A c.31C>A p.R11= Synonymous 2/20 - 3
17-78078416-C-G c.31C>G p.R11G Missense 2/20 - 5
17-78078416-CG-AA c.31_32delinsAA p.R11K Missense 2/20 - 3
17-78078416-CG-AC c.31_32delinsAC p.R11T Missense 2/20 - 1
17-78078416-CGG-TGT c.31_33delinsTGT p.R11C Missense 2/20 - 1
17-78078416-CG-TA c.31_32delinsTA p.R11* Nonsense 2/20 - 1
17-78078416-C-T c.31C>T p.R11W Missense 2/20 - 3
17-78078417-G-A c.32G>A p.R11Q Missense 2/20 - 5
17-78078417-G-C c.32G>C p.R11P Missense 2/20 - 3
17-78078417-GG-AT c.32_33delinsAT p.R11H Missense 2/20 - 2
17-78078417-G-GTTCTGC c.32_33insTTCTGC p.R11_L12insSA InFrameInsertion 2/20 - 1
17-78078417-G-T c.32G>T p.R11L Missense 2/20 - 2
17-78078416-C-CG c.33dup p.L12Afs*23 Frameshift 2/20 - 1
17-78078416-CG-C c.33del p.L12Sfs*31 Frameshift 2/20 - 2
17-78078418-G-A c.33G>A p.R11= Synonymous 2/20 - 5
17-78078418-G-C c.33G>C p.R11= Synonymous 2/20 - 3
17-78078418-G-T c.33G>T p.R11= Synonymous 2/20 - 3
17-78078419-C-A c.34C>A p.L12I Missense 2/20 - 1
17-78078419-C-G c.34C>G p.L12V Missense 2/20 - 3
17-78078419-C-T c.34C>T p.L12F Missense 2/20 - 7
17-78078419-CT-AG c.34_35inv p.L12S Missense 2/20 - 2
17-78078419-CTC-AAG c.34_36delinsAAG p.L12K Missense 2/20 - 1
17-78078419-CTC-GAG c.34_36inv p.L12E Missense 2/20 - 1
17-78078419-CTC-TAA c.34_36delinsTAA p.L12* Nonsense 2/20 - 1
17-78078419-CTC-TGG c.34_36delinsTGG p.L12W Missense 2/20 - 1
17-78078419-CT-GA c.34_35delinsGA p.L12D Missense 2/20 - 1
17-78078419-CT-GC c.34_35delinsGC p.L12A Missense 2/20 - 1
17-78078420-CT-C c.35del p.L12Pfs*31 Frameshift 2/20 - 2
17-78078420-T-A c.35T>A p.L12H Missense 2/20 - 3
17-78078420-T-C c.35T>C p.L12P Missense 2/20 - 6
17-78078420-T-G c.35T>G p.L12R Missense 2/20 - 2
17-78078420-T-TG c.35_36insG p.L13Pfs*22 Frameshift 2/20 - 1
17-78078421-C-A c.36C>A p.L12= Synonymous 2/20 - 10
17-78078421-C-CG c.36_37insG p.L13Afs*22 Frameshift 2/20 - 1
17-78078421-C-G c.36C>G p.L12= Synonymous 2/20 - 8
17-78078421-C-T c.36C>T p.L12= Synonymous 2/20 - 10
17-78078422-C-A c.37C>A p.L13M Missense 2/20 - 3
17-78078422-C-CCGG c.37_38insCGG p.L13delinsPV MultiAAMissense 2/20 - 1
17-78078422-C-G c.37C>G p.L13V Missense 2/20 - 1
17-78078422-CTG-ATC c.37_39delinsATC p.L13I Missense 2/20 - 1
17-78078422-CT-GC c.37_38delinsGC p.L13A Missense 2/20 - 5
17-78078422-CTG-TTT c.37_39delinsTTT p.L13F Missense 2/20 - 1
17-78078422-CT-TA c.37_38delinsTA p.L13* Nonsense 2/20 - 1
17-78078422-CT-TC c.37_38delinsTC p.L13S Missense 2/20 - 1
17-78078422-C-CT c.38dup p.A14Gfs*21 Frameshift 2/20 - 2
17-78078423-CT-C c.38del p.L13Rfs*30 Frameshift 2/20 - 1
17-78078423-T-A c.38T>A p.L13Q Missense 2/20 - 2
17-78078423-T-C c.38T>C p.L13P Missense 2/20 - 3
17-78078422-C-T c.37C>T p.L13= Synonymous 2/20 - 7
17-78078422-CTGGCCG-C c.39_44del p.A14_V15del InFrameDeletion 2/20 - 1
17-78078424-G-A c.39G>A p.L13= Synonymous 2/20 - 6
17-78078424-G-C c.39G>C p.L13= Synonymous 2/20 - 5
17-78078424-G-GCTATATT c.39_40insCTATATT p.A14Lfs*23 Frameshift 2/20 - 1
17-78078424-G-GT c.39_40insT p.A14Cfs*21 Frameshift 2/20 - 1
17-78078424-G-GTTTATTTTTGCA c.39_40insTTTATTTTTGCA p.L13_A14insFIFA InFrameInsertion 2/20 - 1
17-78078424-G-T c.39G>T p.L13= Synonymous 2/20 - 5
17-78078421-CCTGGCCGT-C c.40_47del p.A14Rfs*18 Frameshift 2/20 - 3
17-78078423-TGGCCGTCTGCGCCCTC-T c.40_55del p.A14Cfs*24 Frameshift 2/20 - 1
17-78078423-TG-T c.40del p.A14Pfs*29 Frameshift 2/20 - 4
17-78078423-T-TG c.40dup p.A14Gfs*21 Frameshift 2/20 - 2
17-78078425-G-A c.40G>A p.A14T Missense 2/20 - 6
17-78078425-G-C c.40G>C p.A14P Missense 2/20 - 3
17-78078425-GC-AA c.40_41delinsAA p.A14N Missense 2/20 - 2
17-78078425-GCC-AAG c.40_42delinsAAG p.A14K Missense 2/20 - 3
17-78078425-GCC-ATG c.40_42delinsATG p.A14M Missense 2/20 - 1
17-78078425-GCC-CAA c.40_42delinsCAA p.A14Q Missense 2/20 - 1
17-78078425-GC-CG c.40_41delinsCG p.A14R Missense 2/20 - 4
17-78078425-GC-CT c.40_41delinsCT p.A14L Missense 2/20 - 1
17-78078425-GCC-TAA c.40_42delinsTAA p.A14* Nonsense 2/20 - 1
17-78078425-GCC-TGG c.40_42delinsTGG p.A14W Missense 2/20 - 4
17-78078425-GC-TA c.40_41delinsTA p.A14Y Missense 2/20 - 2
17-78078425-GC-TG c.40_41delinsTG p.A14C Missense 2/20 - 2
17-78078425-G-GAT c.40_41insAT p.A14Dfs*30 Frameshift 2/20 - 1
17-78078425-GGCCGT-G c.40_44del p.A14Lfs*19 Frameshift 2/20 - 1
17-78078425-G-T c.40G>T p.A14S Missense 2/20 - 7
17-78078425-G-GCTT c.41_42insTTC p.A14_V15insS InFrameInsertion 2/20 - 2
17-78078426-C-A c.41C>A p.A14D Missense 2/20 - 2
17-78078426-CC-AG c.41_42delinsAG p.A14E Missense 2/20 - 1
17-78078426-C-CT c.41_42insT p.V15Rfs*20 Frameshift 2/20 - 1
17-78078426-C-G c.41C>G p.A14G Missense 2/20 - 8
17-78078426-C-T c.41C>T p.A14V Missense 2/20 - 6
17-78078425-GC-G c.42del p.V15Sfs*28 Frameshift 2/20 - 2
17-78078425-G-GC c.42dup p.V15Rfs*20 Frameshift 2/20 - 1
17-78078427-C-A c.42C>A p.A14= Synonymous 2/20 - 5
17-78078427-C-G c.42C>G p.A14= Synonymous 2/20 - 4
17-78078427-C-T c.42C>T p.A14= Synonymous 2/20 - 8
17-78078424-GGCCGTCTGC-G c.43_51del p.V15_A17del InFrameDeletion 2/20 - 1
17-78078427-C-CG c.43dup p.V15Gfs*20 Frameshift 2/20 - 1
17-78078428-G-A c.43G>A p.V15I Missense 2/20 - 9
17-78078428-G-C c.43G>C p.V15L Missense 2/20 - 2
17-78078428-G-T c.43G>T p.V15F Missense 2/20 - 3
17-78078428-GTC-ATG c.43_45delinsATG p.V15M Missense 2/20 - 2
17-78078428-GTC-TAA c.43_45delinsTAA p.V15* Nonsense 2/20 - 1
17-78078428-G-GT c.44dup p.C16Lfs*19 Frameshift 2/20 - 3
17-78078429-GT-G c.44del p.V15Afs*28 Frameshift 2/20 - 3
17-78078429-T-A c.44T>A p.V15D Missense 2/20 - 2
17-78078429-T-C c.44T>C p.V15A Missense 2/20 - 6
17-78078429-TC-AG c.44_45delinsAG p.V15E Missense 2/20 - 1
17-78078429-T-G c.44T>G p.V15G Missense 2/20 - 4
17-78078429-T-TC c.45dup p.C16Lfs*19 Frameshift 2/20 - 1
17-78078430-C-A c.45C>A p.V15= Synonymous 2/20 - 1
17-78078430-C-G c.45C>G p.V15= Synonymous 2/20 - 1
17-78078430-C-T c.45C>T p.V15= Synonymous 2/20 - 3
17-78078430-C-CT c.46dup p.C16Lfs*19 Frameshift 2/20 - 1
17-78078430-C-CTAAAGGTA c.46_47insAAAGGTAT p.C16* Nonsense 2/20 - 1
17-78078431-CT-C c.46del p.C16Afs*27 Frameshift 2/20 - 1
17-78078431-T-C c.46T>C p.C16R Missense 2/20 - 2
17-78078431-T-G c.46T>G p.C16G Missense 2/20 - 1
17-78078431-TG-AC c.46_47delinsAC p.C16T Missense 2/20 - 3
17-78078431-TG-GC c.46_47delinsGC p.C16A Missense 2/20 - 4
17-78078430-CTGCGCCCTCGTG-C c.47_58del p.C16_V19del InFrameDeletion 2/20 - 1
17-78078432-G-A c.47G>A p.C16Y Missense 2/20 - 3
17-78078432-G-C c.47G>C p.C16S Missense 2/20 - 3
17-78078432-G-T c.47G>T p.C16F Missense 2/20 - 1
17-78078432-TGCGCCC-T c.47_52del p.C16_L18delinsF MultiAAMissense 2/20 - 1
17-78078432-TG-T c.47del p.C16Sfs*27 Frameshift 2/20 - 1
17-78078432-G-GC c.48dup p.A17Rfs*18 Frameshift 2/20 - 1
17-78078433-C-A c.48C>A p.C16* Nonsense 2/20 - 1
17-78078433-C-G c.48C>G p.C16W Missense 2/20 - 4
17-78078433-C-T c.48C>T p.C16= Synonymous 2/20 - 11
17-78078433-C-CG c.49dup p.A17Gfs*18 Frameshift 2/20 - 1
17-78078434-G-A c.49G>A p.A17T Missense 2/20 - 10
17-78078434-G-C c.49G>C p.A17P Missense 2/20 - 6
17-78078434-GC-AA c.49_50delinsAA p.A17N Missense 2/20 - 1
17-78078434-GC-CA c.49_50delinsCA p.A17H Missense 2/20 - 4
17-78078434-GCC-ATG c.49_51delinsATG p.A17M Missense 2/20 - 3
17-78078434-GCC-CAA c.49_51delinsCAA p.A17Q Missense 2/20 - 4
17-78078434-GC-CG c.49_50delinsCG p.A17R Missense 2/20 - 3
17-78078434-GC-CT c.49_50delinsCT p.A17L Missense 2/20 - 4
17-78078434-GCC-TAA c.49_51delinsTAA p.A17* Nonsense 2/20 - 2
17-78078434-GCC-TGG c.49_51delinsTGG p.A17W Missense 2/20 - 1
17-78078434-GC-TA c.49_50delinsTA p.A17Y Missense 2/20 - 1
17-78078434-GC-TG c.49_50delinsTG p.A17C Missense 2/20 - 2
17-78078434-GC-TT c.49_50delinsTT p.A17F Missense 2/20 - 3
17-78078434-G-T c.49G>T p.A17S Missense 2/20 - 5
17-78078432-GCGCCCT-G c.50_55del p.A17_L18del InFrameDeletion 2/20 - 1
17-78078435-C-A c.50C>A p.A17D Missense 2/20 - 6
17-78078435-C-CA c.50_51insA p.L18Pfs*17 Frameshift 2/20 - 2
17-78078435-C-G c.50C>G p.A17G Missense 2/20 - 4
17-78078435-C-T c.50C>T p.A17V Missense 2/20 - 7
17-78078435-GCCC-G c.50_52del p.A17_L18delinsV MultiAAMissense 2/20 - 2
17-78078434-GCCCT-G c.51_54del p.L18Cfs*24 Frameshift 2/20 - 1
17-78078436-C-A c.51C>A p.A17= Synonymous 2/20 - 10
17-78078436-CC-A c.51_52delinsA p.L18Sfs*25 Frameshift 2/20 - 1
17-78078436-C-CGAAGAA c.51_52insGAAGAA p.A17_L18insEE InFrameInsertion 2/20 - 1
17-78078436-C-CT c.51_52insT p.L18Sfs*17 Frameshift 2/20 - 1
17-78078436-CC-TA c.51_52delinsTA p.L18I Missense 2/20 - 1
17-78078436-C-G c.51C>G p.A17= Synonymous 2/20 - 13
17-78078436-C-T c.51C>T p.A17= Synonymous 2/20 - 10
17-78078434-GCCCTCGTGT-G c.52_60del p.V19_L21del InFrameDeletion 2/20 - 1
17-78078434-GC-G c.52del p.L18Sfs*25 Frameshift 2/20 - 2
17-78078434-G-GC c.52dup p.L18Pfs*17 Frameshift 2/20 - 1
17-78078437-C-A c.52C>A p.L18I Missense 2/20 - 7
17-78078437-CCTCG-C c.52_55del p.L18Cfs*24 Frameshift 2/20 - 1
17-78078437-C-G c.52C>G p.L18V Missense 2/20 - 3
17-78078437-C-T c.52C>T p.L18F Missense 2/20 - 14
17-78078437-CT-AG c.52_53inv p.L18S Missense 2/20 - 2
17-78078437-CTC-AAG c.52_54delinsAAG p.L18K Missense 2/20 - 1
17-78078437-CTC-ATG c.52_54delinsATG p.L18M Missense 2/20 - 2
17-78078437-CTC-TAA c.52_54delinsTAA p.L18* Nonsense 2/20 - 2
17-78078437-CTC-TGG c.52_54delinsTGG p.L18W Missense 2/20 - 2
17-78078437-CT-GG c.52_53delinsGG p.L18G Missense 2/20 - 1
17-78078436-C-CCTATATT c.53_54insATATTCT p.V19Yfs*18 Frameshift 2/20 - 1
17-78078436-CCT-C c.53_54del p.L18Rfs*16 Frameshift 2/20 - 1
17-78078437-C-CT c.53dup p.V19Rfs*16 Frameshift 2/20 - 1
17-78078438-CT-C c.53del p.L18Pfs*25 Frameshift 2/20 - 1
17-78078438-T-A c.53T>A p.L18H Missense 2/20 - 2
17-78078438-T-C c.53T>C p.L18P Missense 2/20 - 4
17-78078438-TC-AA c.53_54delinsAA p.L18Q Missense 2/20 - 2
17-78078438-T-G c.53T>G p.L18R Missense 2/20 - 2
17-78078438-T-TATTGAGTCAAAAAGACAGATTATTAAATCACA c.53_54insATTGAGTCAAAAAGACAGATTATTAAATCACA p.V19Lfs*35 Frameshift 2/20 - 1
17-78078438-T-TCTCCCTGAGCAGGAGGAAGATGAACTTCACCGCACTCTGGG c.54_55insTCCCTGAGCAGGAGGAAGATGAACTTCACCGCACTCTGGGC p.V19Sfs*38 Frameshift 2/20 - 1
17-78078439-C-A c.54C>A p.L18= Synonymous 2/20 - 5
17-78078439-C-CCTTAATTT c.54_55insCTTAATTT p.V19Lfs*27 Frameshift 2/20 - 1
17-78078439-C-CT c.54_55insT p.V19Cfs*16 Frameshift 2/20 - 1
17-78078439-C-G c.54C>G p.L18= Synonymous 2/20 - 5
17-78078439-C-T c.54C>T p.L18= Synonymous 2/20 - 11
17-78078439-TCG-T c.54_55del p.S20Lfs*14 Frameshift 2/20 - 1
17-78078439-TC-T c.54del p.V19Cfs*24 Frameshift 2/20 - 1
17-78078438-T-TCGG c.55_56insGCG p.L18_V19insG InFrameInsertion 2/20 - 1
17-78078439-C-CG c.55dup p.V19Gfs*16 Frameshift 2/20 - 1
17-78078440-CG-C c.55del p.V19Cfs*24 Frameshift 2/20 - 3
17-78078440-G-A c.55G>A p.V19M Missense 2/20 - 6
17-78078440-G-C c.55G>C p.V19L Missense 2/20 - 3
17-78078440-G-T c.55G>T p.V19L Missense 2/20 - 4
17-78078440-GTG-ATC c.55_57delinsATC p.V19I Missense 2/20 - 2
17-78078440-G-GT c.56dup p.S20Vfs*15 Frameshift 2/20 - 1
17-78078440-G-GTTTTTTT c.56_57insTTTTTTT p.S20Ffs*17 Frameshift 2/20 - 1
17-78078441-GT-G c.56del p.V19Gfs*24 Frameshift 2/20 - 1
17-78078441-T-A c.56T>A p.V19E Missense 2/20 - 3
17-78078441-T-C c.56T>C p.V19A Missense 2/20 - 4
17-78078441-T-G c.56T>G p.V19G Missense 2/20 - 1
17-78078441-T-TC c.56_57insC p.S20Vfs*15 Frameshift 2/20 - 1
17-78078441-T-TTATGG c.56_57insTATGG p.S20Mfs*25 Frameshift 2/20 - 1
17-78078441-T-TG c.57dup p.S20Vfs*15 Frameshift 2/20 - 1
17-78078442-G-A c.57G>A p.V19= Synonymous 2/20 - 6
17-78078442-G-C c.57G>C p.V19= Synonymous 2/20 - 3
17-78078442-G-GGGCAAAGGTAC c.57_58insGGCAAAGGTAC p.S20Gfs*27 Frameshift 2/20 - 1
17-78078442-G-T c.57G>T p.V19= Synonymous 2/20 - 4
17-78078442-TGTC-T c.57_59del p.S20del InFrameDeletion 2/20 - 1
17-78078442-G-GT c.58dup p.S20Ffs*15 Frameshift 2/20 - 1
17-78078442-G-GTT c.58_59insTT p.S20Ffs*24 Frameshift 2/20 - 1
17-78078443-GTC-G c.58_59del p.S20Lfs*14 Frameshift 2/20 - 1
17-78078443-GT-G c.58del p.S20Pfs*23 Frameshift 2/20 - 1
17-78078443-T-A c.58T>A p.S20T Missense 2/20 - 5
17-78078443-T-C c.58T>C p.S20P Missense 2/20 - 3
17-78078443-TC-AA c.58_59delinsAA p.S20N Missense 2/20 - 3
17-78078443-TC-AT c.58_59delinsAT p.S20I Missense 2/20 - 2
17-78078443-TC-CA c.58_59delinsCA p.S20H Missense 2/20 - 1
17-78078443-TCC-AAG c.58_60delinsAAG p.S20K Missense 2/20 - 1
17-78078443-TCC-ATG c.58_60delinsATG p.S20M Missense 2/20 - 2
17-78078443-TCC-CAA c.58_60delinsCAA p.S20Q Missense 2/20 - 1
17-78078443-TC-CG c.58_59delinsCG p.S20R Missense 2/20 - 3
17-78078443-TCC-GAG c.58_60delinsGAG p.S20E Missense 2/20 - 1
17-78078443-TC-CT c.58_59delinsCT p.S20L Missense 2/20 - 2
17-78078443-TC-GA c.58_59inv p.S20D Missense 2/20 - 1
17-78078443-TC-GG c.58_59delinsGG p.S20G Missense 2/20 - 4
17-78078443-TC-GT c.58_59delinsGT p.S20V Missense 2/20 - 1
17-78078443-T-G c.58T>G p.S20A Missense 2/20 - 4
17-78078442-GTCC-G c.59_61del p.S20del InFrameDeletion 2/20 - 1
17-78078444-C-A c.59C>A p.S20Y Missense 2/20 - 3
17-78078444-CC-AA c.59_60delinsAA p.S20* Nonsense 2/20 - 1
17-78078444-CC-GG c.59_60inv p.S20W Missense 2/20 - 1
17-78078444-C-G c.59C>G p.S20C Missense 2/20 - 3
17-78078444-C-T c.59C>T p.S20F Missense 2/20 - 10
17-78078442-G-GTCCAGAACCTCCTATA c.60_61insAGAACCTCCTATATCC p.L21Rfs*19 Frameshift 2/20 - 1
17-78078443-TC-T c.60del p.L21Wfs*22 Frameshift 2/20 - 1
17-78078443-T-TC c.60dup p.A22Gfs*13 Frameshift 2/20 - 1
17-78078445-C-A c.60C>A p.S20= Synonymous 2/20 - 2
17-78078445-C-G c.60C>G p.S20= Synonymous 2/20 - 4
17-78078445-C-T c.60C>T p.S20= Synonymous 2/20 - 6
17-78078445-CTT-TTC c.60_62delinsTTC p.L21S Missense 2/20 - 1
17-78078446-T-A c.61T>A p.L21M Missense 2/20 - 1
17-78078446-T-C c.61T>C p.L21= Synonymous 2/20 - 5
17-78078446-T-G c.61T>G p.L21V Missense 2/20 - 2
17-78078446-TT-CC c.61_62delinsCC p.L21P Missense 2/20 - 2
17-78078446-TTG-AGGATC c.61_63delinsAGGATC p.L21delinsRI MultiAAMissense 2/20 - 1
17-78078446-TTG-ATC c.61_63delinsATC p.L21I Missense 2/20 - 2
17-78078446-TTG-CAT c.61_63delinsCAT p.L21H Missense 2/20 - 1
17-78078448-G-A c.63G>A p.L21= Synonymous 2/20 - 8
17-78078445-CT-C c.62del p.L21Wfs*22 Frameshift 2/20 - 1
17-78078446-T-TTAA c.62_63insAAT p.L21_A22insM InFrameInsertion 2/20 - 1
17-78078447-T-A c.62T>A p.L21* Nonsense 2/20 - 1
17-78078447-T-C c.62T>C p.L21S Missense 2/20 - 5
17-78078447-T-G c.62T>G p.L21W Missense 2/20 - 3
17-78078447-TTGGCAACCG-T c.62_70del p.L21_A24delinsS MultiAAMissense 2/20 - 1
17-78078447-T-TTGTA c.62_63insTGTA p.L21Ffs*15 Frameshift 2/20 - 1
17-78078448-G-C c.63G>C p.L21F Missense 2/20 - 2
17-78078448-G-GCACATACACA c.63_64insCACATACACA p.A22Hfs*16 Frameshift 2/20 - 1
17-78078448-G-GT c.63_64insT p.A22Cfs*13 Frameshift 2/20 - 1
17-78078448-G-T c.63G>T p.L21F Missense 2/20 - 5
17-78078448-TGGC-T c.63_65del p.A22del InFrameDeletion 2/20 - 1
17-78078447-TG-T c.64del p.A22Qfs*21 Frameshift 2/20 - 1
17-78078447-T-TG c.64dup p.A22Gfs*13 Frameshift 2/20 - 1
17-78078449-G-A c.64G>A p.A22T Missense 2/20 - 4
17-78078449-G-C c.64G>C p.A22P Missense 2/20 - 1
17-78078449-GCA-CAT c.64_66delinsCAT p.A22H Missense 2/20 - 1
17-78078449-GCA-TAT c.64_66delinsTAT p.A22Y Missense 2/20 - 1
17-78078449-GCA-TGT c.64_66delinsTGT p.A22C Missense 2/20 - 1
17-78078449-GC-CT c.64_65delinsCT p.A22L Missense 2/20 - 1
17-78078449-GC-TA c.64_65delinsTA p.A22* Nonsense 2/20 - 1
17-78078449-G-GGA c.64_65insGA p.A22Gfs*22 Frameshift 2/20 - 1
17-78078449-G-GTTC c.64_65insTTC p.A22delinsVP MultiAAMissense 2/20 - 1
17-78078449-G-T c.64G>T p.A22S Missense 2/20 - 6
17-78078449-G-GC c.65dup p.T23Nfs*12 Frameshift 2/20 - 1
17-78078449-G-GCGCTGTCGA c.65_66insGCTGTCGAC p.A22_T23insLST InFrameInsertion 2/20 - 1
17-78078450-C-A c.65C>A p.A22E Missense 2/20 - 2
17-78078450-CA-AC c.65_66delinsAC p.A22D Missense 2/20 - 2
17-78078450-C-G c.65C>G p.A22G Missense 2/20 - 6
17-78078450-C-T c.65C>T p.A22V Missense 2/20 - 4
17-78078450-GCAACCGCTGCAC-G c.65_76del p.A22_L26delinsV MultiAAMissense 2/20 - 1
17-78078451-A-ATCCGAT c.66_67insTCCGAT p.A22_T23insSD InFrameInsertion 2/20 - 1
17-78078451-A-C c.66A>C p.A22= Synonymous 2/20 - 5
17-78078451-A-G c.66A>G p.A22= Synonymous 2/20 - 8
17-78078451-A-T c.66A>T p.A22= Synonymous 2/20 - 5
17-78078450-CA-C c.67del p.T23Pfs*20 Frameshift 2/20 - 1
17-78078450-C-CA c.67dup p.T23Nfs*12 Frameshift 2/20 - 2
17-78078451-A-AAGGCGGCGG c.67_68insGGCGGCGGA p.A22_T23insRRR InFrameInsertion 2/20 - 1
17-78078452-A-AAAACAGAAGTT c.67_68insAAACAGAAGTT p.T23Kfs*24 Frameshift 2/20 - 1
17-78078452-AACCGCT-A c.67_72del p.T23_A24del InFrameDeletion 2/20 - 1
17-78078452-A-C c.67A>C p.T23P Missense 2/20 - 5
17-78078452-A-G c.67A>G p.T23A Missense 2/20 - 6
17-78078451-AACCGCTGCACTCCTGGGGCAC-A c.68_88del p.T23_H29del InFrameDeletion 2/20 - 1
17-78078452-A-T c.67A>T p.T23S Missense 2/20 - 2
17-78078453-C-A c.68C>A p.T23N Missense 2/20 - 2
17-78078453-CC-AG c.68_69delinsAG p.T23K Missense 2/20 - 1
17-78078453-CC-TG c.68_69delinsTG p.T23M Missense 2/20 - 1
17-78078453-C-G c.68C>G p.T23S Missense 2/20 - 3
17-78078453-C-T c.68C>T p.T23I Missense 2/20 - 6
17-78078452-A-AC c.69dup p.A24Rfs*11 Frameshift 2/20 - 1
17-78078452-AC-A c.69del p.A24Lfs*19 Frameshift 2/20 - 3
17-78078454-C-A c.69C>A p.T23= Synonymous 2/20 - 3
17-78078454-C-CA c.69_70insA p.A24Sfs*11 Frameshift 2/20 - 1
17-78078454-C-G c.69C>G p.T23= Synonymous 2/20 - 3
17-78078454-C-T c.69C>T p.T23= Synonymous 2/20 - 5
17-78078453-CCGCTGCACTCCTGGGGCA-C c.70_87del p.A24_H29del InFrameDeletion 2/20 - 1
17-78078455-G-A c.70G>A p.A24T Missense 2/20 - 9
17-78078455-G-C c.70G>C p.A24P Missense 2/20 - 5
17-78078455-GC-CA c.70_71delinsCA p.A24H Missense 2/20 - 1
17-78078455-GC-CG c.70_71delinsCG p.A24R Missense 2/20 - 4
17-78078455-GCT-AAG c.70_72delinsAAG p.A24K Missense 2/20 - 4
17-78078455-GCT-ATG c.70_72delinsATG p.A24M Missense 2/20 - 3
17-78078455-GCT-CAA c.70_72delinsCAA p.A24Q Missense 2/20 - 2
17-78078455-GCT-TAA c.70_72delinsTAA p.A24* Nonsense 2/20 - 1
17-78078455-GCT-TGG c.70_72delinsTGG p.A24W Missense 2/20 - 1
17-78078455-G-T c.70G>T p.A24S Missense 2/20 - 6
17-78078455-G-GC c.71dup p.A25Cfs*10 Frameshift 2/20 - 1
17-78078456-C-A c.71C>A p.A24D Missense 2/20 - 6
17-78078456-C-G c.71C>G p.A24G Missense 2/20 - 4
17-78078456-C-T c.71C>T p.A24V Missense 2/20 - 4
17-78078457-CT-C c.72del p.A25Hfs*18 Frameshift 2/20 - 2
17-78078457-T-A c.72T>A p.A24= Synonymous 2/20 - 3
17-78078457-T-C c.72T>C p.A24= Synonymous 2/20 - 9
17-78078457-T-G c.72T>G p.A24= Synonymous 2/20 - 4
17-78078457-T-TG c.73dup p.A25Gfs*10 Frameshift 2/20 - 1
17-78078457-T-TGAA c.73_74insAAG p.A24_A25insE InFrameInsertion 2/20 - 1
17-78078458-G-A c.73G>A p.A25T Missense 2/20 - 6
17-78078458-G-C c.73G>C p.A25P Missense 2/20 - 1
17-78078458-GCA-AAC c.73_75delinsAAC p.A25N Missense 2/20 - 1
17-78078458-GCA-ATG c.73_75delinsATG p.A25M Missense 2/20 - 1
17-78078458-GCACTCCTGGGGC-TTAAATAGAT c.73_85delinsTTAAATAGAT p.A25_H29delinsLNRY MultiAAMissense 2/20 - 1
17-78078458-GCA-TAT c.73_75delinsTAT p.A25Y Missense 2/20 - 2
17-78078458-GCA-TGT c.73_75delinsTGT p.A25C Missense 2/20 - 3
17-78078458-GCA-TTT c.73_75delinsTTT p.A25F Missense 2/20 - 1
17-78078458-GC-CT c.73_74delinsCT p.A25L Missense 2/20 - 1
17-78078458-G-GTGTACT c.73_74insTGTACT p.A25delinsVYS MultiAAMissense 2/20 - 1
17-78078458-G-T c.73G>T p.A25S Missense 2/20 - 4
17-78078458-TGCACTCCTGGGGC-T c.73_85del p.A25Tfs*14 Frameshift 2/20 - 1
17-78078458-TGCA-T c.73_75del p.A25del InFrameDeletion 2/20 - 1
17-78078458-TG-T c.73del p.A25Hfs*18 Frameshift 2/20 - 1
17-78078458-G-GC c.74dup p.L26Tfs*9 Frameshift 2/20 - 1
17-78078459-C-A c.74C>A p.A25E Missense 2/20 - 4
17-78078459-CA-AC c.74_75delinsAC p.A25D Missense 2/20 - 5
17-78078459-C-CT c.74_75insT p.L26Tfs*9 Frameshift 2/20 - 1
17-78078459-C-G c.74C>G p.A25G Missense 2/20 - 2
17-78078459-C-T c.74C>T p.A25V Missense 2/20 - 9
17-78078459-GC-G c.74del p.A25Dfs*18 Frameshift 2/20 - 1
17-78078459-C-CA c.75dup p.L26Tfs*9 Frameshift 2/20 - 1
17-78078460-A-C c.75A>C p.A25= Synonymous 2/20 - 4
17-78078460-A-G c.75A>G p.A25= Synonymous 2/20 - 9
17-78078460-A-T c.75A>T p.A25= Synonymous 2/20 - 6
17-78078460-CA-C c.75del p.L26Sfs*17 Frameshift 2/20 - 1
17-78078460-CACT-C c.75_77del p.L27del InFrameDeletion 2/20 - 1
17-78078460-A-AC c.76dup p.L26Pfs*9 Frameshift 2/20 - 1
17-78078461-C-A c.76C>A p.L26I Missense 2/20 - 3
17-78078461-C-G c.76C>G p.L26V Missense 2/20 - 4
17-78078461-C-T c.76C>T p.L26F Missense 2/20 - 9
17-78078461-CT-AA c.76_77delinsAA p.L26N Missense 2/20 - 1
17-78078461-CT-AC c.76_77delinsAC p.L26T Missense 2/20 - 1
17-78078461-CT-AG c.76_77inv p.L26S Missense 2/20 - 2
17-78078461-CTC-AAG c.76_78delinsAAG p.L26K Missense 2/20 - 2
17-78078461-CTC-ATG c.76_78delinsATG p.L26M Missense 2/20 - 2
17-78078461-CTC-GAG c.76_78inv p.L26E Missense 2/20 - 1
17-78078461-CTC-TAA c.76_78delinsTAA p.L26* Nonsense 2/20 - 1
17-78078461-CTC-TGG c.76_78delinsTGG p.L26W Missense 2/20 - 2
17-78078461-CT-GA c.76_77delinsGA p.L26D Missense 2/20 - 1
17-78078461-CT-GC c.76_77delinsGC p.L26A Missense 2/20 - 1
17-78078461-CT-GG c.76_77delinsGG p.L26G Missense 2/20 - 1
17-78078461-CT-TA c.76_77delinsTA p.L26Y Missense 2/20 - 2
17-78078461-CT-TG c.76_77delinsTG p.L26C Missense 2/20 - 1
17-78078460-A-ACTTT c.77_78insTTCT p.L27Sfs*9 Frameshift 2/20 - 1
17-78078461-C-CT c.77dup p.L27Pfs*8 Frameshift 2/20 - 1
17-78078461-C-CTTGGCGGT c.77_78insTGGCGGTT p.L27Gfs*19 Frameshift 2/20 - 1
17-78078462-CT-C c.77del p.L26Pfs*17 Frameshift 2/20 - 1
17-78078462-T-A c.77T>A p.L26H Missense 2/20 - 2
17-78078462-T-C c.77T>C p.L26P Missense 2/20 - 6
17-78078462-TC-AA c.77_78delinsAA p.L26Q Missense 2/20 - 3
17-78078462-T-G c.77T>G p.L26R Missense 2/20 - 3
17-78078462-T-TAA c.77_78insAA p.L27Tfs*17 Frameshift 2/20 - 1
17-78078463-C-A c.78C>A p.L26= Synonymous 2/20 - 7
17-78078463-C-G c.78C>G p.L26= Synonymous 2/20 - 6
17-78078463-C-T c.78C>T p.L26= Synonymous 2/20 - 9
17-78078462-TC-T c.79del p.L27Wfs*16 Frameshift 2/20 - 1
17-78078462-T-TC c.79dup p.L27Pfs*8 Frameshift 2/20 - 1
17-78078464-C-A c.79C>A p.L27M Missense 2/20 - 3
17-78078464-C-G c.79C>G p.L27V Missense 2/20 - 5
17-78078464-C-T c.79C>T p.L27= Synonymous 2/20 - 8
17-78078464-CTG-ATC c.79_81delinsATC p.L27I Missense 2/20 - 2
17-78078464-CT-GC c.79_80delinsGC p.L27A Missense 2/20 - 1
17-78078464-CTG-TTT c.79_81delinsTTT p.L27F Missense 2/20 - 2
17-78078464-CT-TA c.79_80delinsTA p.L27* Nonsense 2/20 - 1
17-78078464-CT-TC c.79_80delinsTC p.L27S Missense 2/20 - 2
17-78078464-CT-TG c.79_80delinsTG p.L27W Missense 2/20 - 1
17-78078464-C-CT c.80dup p.H29Afs*6 Frameshift 2/20 - 2
17-78078465-CT-C c.80del p.L27Rfs*16 Frameshift 2/20 - 2
17-78078465-T-A c.80T>A p.L27Q Missense 2/20 - 5
17-78078465-T-C c.80T>C p.L27P Missense 2/20 - 8
17-78078465-T-G c.80T>G p.L27R Missense 2/20 - 4
17-78078465-TG-AT c.80_81delinsAT p.L27H Missense 2/20 - 2
17-78078465-T-TGAA c.81_82insAAG p.L27_G28insK InFrameInsertion 2/20 - 1
17-78078465-T-TGCCCGTGG c.81_82insCCCGTGGG p.G28Pfs*18 Frameshift 2/20 - 1
17-78078466-G-A c.81G>A p.L27= Synonymous 2/20 - 4
17-78078466-G-C c.81G>C p.L27= Synonymous 2/20 - 5
17-78078466-G-T c.81G>T p.L27= Synonymous 2/20 - 4
17-78078466-TGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCC-T c.81_139del p.G28Sfs*48 Frameshift 2/20 - 1
17-78078465-TGGG-T c.82_84del p.G28del InFrameDeletion 2/20 - 1
17-78078467-G-A c.82G>A p.G28R Missense 2/20 - 4
17-78078467-G-C c.82G>C p.G28R Missense 2/20 - 1
17-78078467-GGG-AGC c.82_84delinsAGC p.G28S Missense 2/20 - 2
17-78078467-GGG-TGT c.82_84delinsTGT p.G28C Missense 2/20 - 4
17-78078467-GGG-TTT c.82_84delinsTTT p.G28F Missense 2/20 - 1
17-78078467-GG-TA c.82_83delinsTA p.G28* Nonsense 2/20 - 1
17-78078467-G-T c.82G>T p.G28W Missense 2/20 - 2
17-78078468-G-A c.83G>A p.G28E Missense 2/20 - 4
17-78078468-G-C c.83G>C p.G28A Missense 2/20 - 3
17-78078468-GG-AC c.83_84delinsAC p.G28D Missense 2/20 - 2
17-78078468-GGGCACATCCTA-G c.83_93del p.G28Afs*3 Frameshift 2/20 - 1
17-78078468-GGGCA-G c.83_86del p.G28Afs*14 Frameshift 2/20 - 1
17-78078468-G-T c.83G>T p.G28V Missense 2/20 - 2
17-78078465-TG-T c.84del p.H29Tfs*14 Frameshift 2/20 - 5
17-78078465-T-TG c.84dup p.H29Afs*6 Frameshift 2/20 - 2
17-78078469-G-A c.84G>A p.G28= Synonymous 2/20 - 7
17-78078469-G-C c.84G>C p.G28= Synonymous 2/20 - 3
17-78078469-G-T c.84G>T p.G28= Synonymous 2/20 - 5
17-78078469-G-GC c.85dup p.H29Pfs*6 Frameshift 2/20 - 1
17-78078469-G-GCTATATT c.85_86insTATATTC p.H29Lfs*8 Frameshift 2/20 - 1
17-78078470-C-A c.85C>A p.H29N Missense 2/20 - 2
17-78078470-C-CG c.85_86insG p.H29Rfs*6 Frameshift 2/20 - 1
17-78078470-C-G c.85C>G p.H29D Missense 2/20 - 3
17-78078470-C-T c.85C>T p.H29Y Missense 2/20 - 2
17-78078471-A-C c.86A>C p.H29P Missense 2/20 - 2
17-78078471-A-G c.86A>G p.H29R Missense 2/20 - 6
17-78078471-A-T c.86A>T p.H29L Missense 2/20 - 3
17-78078469-GCA-G c.87_88del p.I30Pfs*4 Frameshift 2/20 - 1
17-78078472-AC-A c.87del p.H29Qfs*14 Frameshift 2/20 - 1
17-78078472-C-A c.87C>A p.H29Q Missense 2/20 - 3
17-78078472-C-G c.87C>G p.H29Q Missense 2/20 - 1
17-78078472-C-T c.87C>T p.H29= Synonymous 2/20 - 3
17-78078471-ACATCCTACT-A c.88_96del p.I30_L32del InFrameDeletion 2/20 - 2
17-78078472-C-CA c.88dup p.I30Nfs*5 Frameshift 2/20 - 1
17-78078473-A-ACTCAC c.88_89insCTCAC p.I30Tfs*15 Frameshift 2/20 - 1
17-78078473-A-C c.88A>C p.I30L Missense 2/20 - 1
17-78078473-A-G c.88A>G p.I30V Missense 2/20 - 6
17-78078473-A-T c.88A>T p.I30F Missense 2/20 - 4
17-78078473-ATC-GAG c.88_90delinsGAG p.I30E Missense 2/20 - 1
17-78078473-CA-C c.88del p.I30Sfs*13 Frameshift 2/20 - 1
17-78078474-ATC-A c.89_90del p.I30Tfs*4 Frameshift 2/20 - 1
17-78078474-T-A c.89T>A p.I30N Missense 2/20 - 3
17-78078474-T-C c.89T>C p.I30T Missense 2/20 - 4
17-78078474-TC-AG c.89_90delinsAG p.I30K Missense 2/20 - 1
17-78078475-C-A c.90C>A p.I30= Synonymous 2/20 - 4
17-78078475-C-CGGGCTCAGA c.90_91insGGGCTCAGA p.I30_L31insGLR InFrameInsertion 2/20 - 1
17-78078475-C-CGTTCT c.90_91insGTTCT p.L31Vfs*14 Frameshift 2/20 - 1
17-78078475-C-CT c.90_91insT p.L31Sfs*4 Frameshift 2/20 - 1
17-78078475-C-T c.90C>T p.I30= Synonymous 2/20 - 6
17-78078474-TC-T c.91del p.L31Yfs*12 Frameshift 2/20 - 1
17-78078476-C-A c.91C>A p.L31I Missense 2/20 - 2
17-78078476-C-G c.91C>G p.L31V Missense 2/20 - 1
17-78078476-C-T c.91C>T p.L31= Synonymous 2/20 - 5
17-78078476-CTA-TAT c.91_93delinsTAT p.L31Y Missense 2/20 - 1
17-78078476-CTA-TGG c.91_93delinsTGG p.L31W Missense 2/20 - 1
17-78078476-CTA-TTT c.91_93delinsTTT p.L31F Missense 2/20 - 1
17-78078476-CT-TA c.91_92delinsTA p.L31* Nonsense 2/20 - 1
17-78078476-CT-TC c.91_92delinsTC p.L31S Missense 2/20 - 1
17-78078477-CT-C c.92del p.L31Hfs*12 Frameshift 2/20 - 1
17-78078477-T-A c.92T>A p.L31Q Missense 2/20 - 2
17-78078477-T-C c.92T>C p.L31P Missense 2/20 - 5
17-78078477-T-G c.92T>G p.L31R Missense 2/20 - 2
17-78078475-CCTA-C c.93_95del p.L32del InFrameDeletion 2/20 - 1
17-78078476-CTACTCCATGAT-C c.93_103del p.L32Pfs*60 Frameshift 2/20 - 1
17-78078477-T-TA c.93dup p.L32Tfs*3 Frameshift 2/20 - 1
17-78078478-A-C c.93A>C p.L31= Synonymous 2/20 - 6
17-78078478-A-G c.93A>G p.L31= Synonymous 2/20 - 7
17-78078478-A-T c.93A>T p.L31= Synonymous 2/20 - 4
17-78078478-TACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGG-T c.94_152del p.L32Dfs*44 Frameshift 2/20 - 1
17-78078478-TA-T c.93del p.L32Sfs*11 Frameshift 2/20 - 1
17-78078479-C-A c.94C>A p.L32I Missense 2/20 - 5
17-78078479-C-G c.94C>G p.L32V Missense 2/20 - 1
17-78078479-C-T c.94C>T p.L32F Missense 2/20 - 4
17-78078479-CT-AA c.94_95delinsAA p.L32N Missense 2/20 - 1
17-78078479-CT-AC c.94_95delinsAC p.L32T Missense 2/20 - 1
17-78078479-CT-AG c.94_95inv p.L32S Missense 2/20 - 2
17-78078479-CTC-AAG c.94_96delinsAAG p.L32K Missense 2/20 - 2
17-78078479-CTC-ATG c.94_96delinsATG p.L32M Missense 2/20 - 2
17-78078479-CTC-GAG c.94_96inv p.L32E Missense 2/20 - 1
17-78078479-CTC-TAA c.94_96delinsTAA p.L32* Nonsense 2/20 - 1
17-78078479-CT-GA c.94_95delinsGA p.L32D Missense 2/20 - 1
17-78078479-CT-GC c.94_95delinsGC p.L32A Missense 2/20 - 2
17-78078479-CT-GG c.94_95delinsGG p.L32G Missense 2/20 - 1
17-78078479-CT-TA c.94_95delinsTA p.L32Y Missense 2/20 - 1
17-78078479-CT-TG c.94_95delinsTG p.L32C Missense 2/20 - 1
17-78078479-C-CT c.95dup p.H33Pfs*2 Frameshift 2/20 - 1
17-78078480-CT-C c.95del p.L32Pfs*11 Frameshift 2/20 - 2
17-78078480-T-A c.95T>A p.L32H Missense 2/20 - 2
17-78078480-T-C c.95T>C p.L32P Missense 2/20 - 6
17-78078480-TC-AA c.95_96delinsAA p.L32Q Missense 2/20 - 1
17-78078480-T-G c.95T>G p.L32R Missense 2/20 - 3
17-78078480-T-TCGAACC c.96_97insGAACCC p.L32_H33insEP InFrameInsertion 2/20 - 1
17-78078481-C-A c.96C>A p.L32= Synonymous 2/20 - 6
17-78078481-CC-A c.96_97delinsA p.H33Mfs*10 Frameshift 2/20 - 1
17-78078481-C-G c.96C>G p.L32= Synonymous 2/20 - 4
17-78078481-C-T c.96C>T p.L32= Synonymous 2/20 - 6
17-78078481-TCCA-T c.96_98del p.H33del InFrameDeletion 2/20 - 1
17-78078480-T-TC c.97dup p.H33Pfs*2 Frameshift 2/20 - 1
17-78078482-C-A c.97C>A p.H33N Missense 2/20 - 1
17-78078482-CA-GC c.97_98delinsGC p.H33A Missense 2/20 - 3
17-78078482-CA-TG c.97_98inv p.H33C Missense 2/20 - 1
17-78078482-C-CT c.97_98insT p.H33Lfs*2 Frameshift 2/20 - 1
17-78078482-C-G c.97C>G p.H33D Missense 2/20 - 1
17-78078482-C-T c.97C>T p.H33Y Missense 2/20 - 6
17-78078482-C-CA c.98dup p.H33Qfs*2 Frameshift 2/20 - 1
17-78078483-A-C c.98A>C p.H33P Missense 2/20 - 2
17-78078483-A-G c.98A>G p.H33R Missense 2/20 - 5
17-78078483-A-T c.98A>T p.H33L Missense 2/20 - 2
17-78078483-CA-C c.98del p.H33Lfs*10 Frameshift 2/20 - 1
17-78078483-A-AT c.99dup p.D34* Nonsense 2/20 - 2
17-78078484-AT-A c.99del p.H33Qfs*10 Frameshift 2/20 - 1
17-78078484-T-A c.99T>A p.H33Q Missense 2/20 - 4
17-78078484-T-C c.99T>C p.H33= Synonymous 2/20 - 7
17-78078484-T-G c.99T>G p.H33Q Missense 2/20 - 3
17-78078484-T-TTGATGAG c.99_100insTGATGAG p.D34* Nonsense 2/20 - 1
17-78078482-CATG-C c.100_102del p.D34del InFrameDeletion 2/20 - 2
17-78078484-T-TG c.100dup p.D34Gfs*62 Frameshift 2/20 - 2
17-78078485-G-A c.100G>A p.D34N Missense 2/20 - 8
17-78078485-GA-AT c.100_101delinsAT p.D34I Missense 2/20 - 1
17-78078485-GAT-CAA c.100_102delinsCAA p.D34Q Missense 2/20 - 1
17-78078485-GA-TT c.100_101delinsTT p.D34F Missense 2/20 - 1
17-78078485-GAT-TAA c.100_102delinsTAA p.D34* Nonsense 2/20 - 1
17-78078485-G-C c.100G>C p.D34H Missense 2/20 - 4
17-78078485-G-T c.100G>T p.D34Y Missense 2/20 - 2
17-78078485-TG-T c.100del p.D34Ifs*9 Frameshift 2/20 - 1
17-78078483-ATGATTTCC-A c.101_108del p.D34Afs*59 Frameshift 2/20 - 1
17-78078485-G-GA c.101dup p.D34Efs*62 Frameshift 2/20 - 1
17-78078486-A-ACTATATT c.101_102insCTATATT p.F35Yfs*63 Frameshift 2/20 - 1
17-78078486-A-C c.101A>C p.D34A Missense 2/20 - 8
17-78078486-A-G c.101A>G p.D34G Missense 2/20 - 3
17-78078486-A-T c.101A>T p.D34V Missense 2/20 - 4
17-78078486-A-ATCT c.102_103insCTT p.D34_F35insL InFrameInsertion 2/20 - 1
17-78078487-T-A c.102T>A p.D34E Missense 2/20 - 3
17-78078487-T-C c.102T>C p.D34= Synonymous 2/20 - 9
17-78078487-T-G c.102T>G p.D34E Missense 2/20 - 2
17-78078488-T-A c.103T>A p.F35I Missense 2/20 - 1
17-78078488-T-C c.103T>C p.F35L Missense 2/20 - 3
17-78078488-T-G c.103T>G p.F35V Missense 2/20 - 4
17-78078488-TT-GC c.103_104delinsGC p.F35A Missense 2/20 - 2
17-78078490-C-A c.105C>A p.F35L Missense 2/20 - 2
17-78078490-C-G c.105C>G p.F35L Missense 2/20 - 2
17-78078486-A-AT c.104dup p.L36Pfs*60 Frameshift 2/20 - 2
17-78078486-A-ATTTTGGTGGTG c.104_105insTGGTGGTGTTT p.L36Gfs*11 Frameshift 2/20 - 1
17-78078486-AT-A c.104del p.F35Sfs*8 Frameshift 2/20 - 4
17-78078489-T-A c.104T>A p.F35Y Missense 2/20 - 2
17-78078489-T-C c.104T>C p.F35S Missense 2/20 - 5
17-78078489-T-G c.104T>G p.F35C Missense 2/20 - 3
17-78078490-C-T c.105C>T p.F35= Synonymous 2/20 - 7
17-78078489-T-TC c.106dup p.L36Pfs*60 Frameshift 2/20 - 2
17-78078491-C-A c.106C>A p.L36M Missense 2/20 - 3
17-78078491-C-CA c.106_107insA p.L36Hfs*60 Frameshift 2/20 - 1
17-78078491-C-G c.106C>G p.L36V Missense 2/20 - 2
17-78078491-C-T c.106C>T p.L36= Synonymous 2/20 - 2
17-78078491-CT-GC c.106_107delinsGC p.L36A Missense 2/20 - 2
17-78078491-CTG-TTT c.106_108delinsTTT p.L36F Missense 2/20 - 4
17-78078490-CCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCT-C c.107_137del p.L36Pfs*96 Frameshift 2/20 - 1
17-78078491-C-CT c.107dup p.L37Afs*59 Frameshift 2/20 - 2
17-78078492-CT-C c.107del p.L36Rfs*7 Frameshift 2/20 - 1
17-78078492-T-A c.107T>A p.L36Q Missense 2/20 - 3
17-78078492-T-C c.107T>C p.L36P Missense 2/20 - 4
17-78078492-T-TG c.108dup p.L37Afs*59 Frameshift 2/20 - 1
17-78078493-G-A c.108G>A p.L36= Synonymous 2/20 - 4
17-78078493-G-C c.108G>C p.L36= Synonymous 2/20 - 2
17-78078493-G-T c.108G>T p.L36= Synonymous 2/20 - 3
17-78078490-CCTG-C c.109_111del p.L37del InFrameDeletion 2/20 - 1
17-78078494-C-A c.109C>A p.L37M Missense 2/20 - 3
17-78078494-C-G c.109C>G p.L37V Missense 2/20 - 1
17-78078494-CTG-ATC c.109_111delinsATC p.L37I Missense 2/20 - 2
17-78078494-CT-GC c.109_110delinsGC p.L37A Missense 2/20 - 2
17-78078494-CTG-TTT c.109_111delinsTTT p.L37F Missense 2/20 - 2
17-78078494-CT-TA c.109_110delinsTA p.L37* Nonsense 2/20 - 2
17-78078494-GC-G c.109del p.L37Wfs*6 Frameshift 2/20 - 1
17-78078494-C-CT c.110dup p.V38Gfs*58 Frameshift 2/20 - 2
17-78078495-CT-C c.110del p.L37Rfs*6 Frameshift 2/20 - 1
17-78078495-T-A c.110T>A p.L37Q Missense 2/20 - 1
17-78078495-T-C c.110T>C p.L37P Missense 2/20 - 5
17-78078495-T-G c.110T>G p.L37R Missense 2/20 - 2
17-78078495-T-TCC c.110_111insCC p.V38Rfs*6 Frameshift 2/20 - 1
17-78078494-C-T c.109C>T p.L37= Synonymous 2/20 - 4
17-78078496-G-A c.111G>A p.L37= Synonymous 2/20 - 6
17-78078496-G-C c.111G>C p.L37= Synonymous 2/20 - 5
17-78078496-G-GAA c.111_112insAA p.V38Kfs*6 Frameshift 2/20 - 1
17-78078496-G-T c.111G>T p.L37= Synonymous 2/20 - 5
17-78078495-TG-T c.112del p.V38Ffs*5 Frameshift 2/20 - 1
17-78078497-G-A c.112G>A p.V38I Missense 2/20 - 5
17-78078497-G-C c.112G>C p.V38L Missense 2/20 - 3
17-78078497-G-T c.112G>T p.V38F Missense 2/20 - 3
17-78078497-GTT-ATG c.112_114delinsATG p.V38M Missense 2/20 - 1
17-78078497-GTT-TAA c.112_114delinsTAA p.V38* Nonsense 2/20 - 1
17-78078498-T-A c.113T>A p.V38D Missense 2/20 - 1
17-78078498-T-C c.113T>C p.V38A Missense 2/20 - 4
17-78078498-T-G c.113T>G p.V38G Missense 2/20 - 4
17-78078497-G-GT c.114dup p.P39Sfs*57 Frameshift 2/20 - 3
17-78078497-GT-G c.114del p.R40Efs*3 Frameshift 2/20 - 1
17-78078499-T-A c.114T>A p.V38= Synonymous 2/20 - 5
17-78078499-T-C c.114T>C p.V38= Synonymous 2/20 - 3
17-78078499-T-G c.114T>G p.V38= Synonymous 2/20 - 5
17-78078499-TTCCCCG-T c.114_119del p.P39_R40del InFrameDeletion 2/20 - 1
17-78078500-C-A c.115C>A p.P39T Missense 2/20 - 5
17-78078500-CCC-TAA c.115_117delinsTAA p.P39* Nonsense 2/20 - 1
17-78078500-C-G c.115C>G p.P39A Missense 2/20 - 1
17-78078500-C-T c.115C>T p.P39S Missense 2/20 - 6
17-78078501-C-A c.116C>A p.P39H Missense 2/20 - 4
17-78078501-C-G c.116C>G p.P39R Missense 2/20 - 2
17-78078501-C-T c.116C>T p.P39L Missense 2/20 - 7
17-78078502-C-A c.117C>A p.P39= Synonymous 2/20 - 5
17-78078502-C-G c.117C>G p.P39= Synonymous 2/20 - 4
17-78078502-C-T c.117C>T p.P39= Synonymous 2/20 - 10
17-78078499-T-TC c.118dup p.R40Pfs*56 Frameshift 2/20 - 5
17-78078503-C-A c.118C>A p.R40= Synonymous 2/20 - 5
17-78078503-C-CAG c.118_119insAG p.R40Qfs*4 Frameshift 2/20 - 1
17-78078503-CCGAGAGCTGAGTGGCTCCTCCCCAGTCCTG-C c.118_147del p.R40_L49del InFrameDeletion 2/20 - 1
17-78078503-C-CT c.118_119insT p.R40Lfs*56 Frameshift 2/20 - 1
17-78078503-C-G c.118C>G p.R40G Missense 2/20 - 3
17-78078503-CG-AA c.118_119delinsAA p.R40K Missense 2/20 - 3
17-78078503-CG-GC c.118_119delinsGC p.R40A Missense 2/20 - 2
17-78078503-C-T c.118C>T p.R40* Nonsense 2/20 - 18
17-78078505-A-C c.120A>C p.R40= Synonymous 2/20 - 3
17-78078503-C-CG c.119dup p.E41Rfs*55 Frameshift 2/20 - 1
17-78078504-G-A c.119G>A p.R40Q Missense 2/20 - 5
17-78078504-GA-AT c.119_120delinsAT p.R40H Missense 2/20 - 1
17-78078504-G-C c.119G>C p.R40P Missense 2/20 - 1
17-78078504-G-GTTTTTTTTT c.119_120insTTTTTTTTT p.R40_E41insFFL InFrameInsertion 2/20 - 1
17-78078504-G-T c.119G>T p.R40L Missense 2/20 - 2
17-78078505-A-AT c.120_121insT p.E41* Nonsense 2/20 - 1
17-78078505-A-G c.120A>G p.R40= Synonymous 2/20 - 5
17-78078505-A-T c.120A>T p.R40= Synonymous 2/20 - 6
17-78078505-GA-G c.120del p.E41Sfs*2 Frameshift 2/20 - 1
17-78078505-A-AG c.121dup p.E41Gfs*55 Frameshift 2/20 - 1
17-78078506-G-A c.121G>A p.E41K Missense 2/20 - 14
17-78078506-GA-AT c.121_122delinsAT p.E41M Missense 2/20 - 1
17-78078506-G-C c.121G>C p.E41Q Missense 2/20 - 4
17-78078506-G-T c.121G>T p.E41* Nonsense 2/20 - 6
17-78078506-G-GATTGGGCT c.122_123insTTGGGCTA p.E41Dfs*5 Frameshift 2/20 - 1
17-78078507-A-C c.122A>C p.E41A Missense 2/20 - 6
17-78078507-A-G c.122A>G p.E41G Missense 2/20 - 8
17-78078507-A-T c.122A>T p.E41V Missense 2/20 - 6
17-78078507-GA-G c.122del p.E41Gfs*2 Frameshift 2/20 - 2
17-78078508-AG-A c.123del p.E41Dfs*2 Frameshift 2/20 - 1
17-78078508-G-A c.123G>A p.E41= Synonymous 2/20 - 6
17-78078508-G-C c.123G>C p.E41D Missense 2/20 - 5
17-78078508-G-GTT c.123_124insTT p.L42Ffs*2 Frameshift 2/20 - 1
17-78078508-G-T c.123G>T p.E41D Missense 2/20 - 5
17-78078507-AGCT-A c.124_126del p.L42del InFrameDeletion 2/20 - 1
17-78078508-G-GC c.124dup p.L42Pfs*54 Frameshift 2/20 - 1
17-78078509-C-A c.124C>A p.L42M Missense 2/20 - 2
17-78078509-C-G c.124C>G p.L42V Missense 2/20 - 4
17-78078509-C-T c.124C>T p.L42= Synonymous 2/20 - 11
17-78078509-CTG-ATC c.124_126delinsATC p.L42I Missense 2/20 - 1
17-78078509-CTG-TTT c.124_126delinsTTT p.L42F Missense 2/20 - 2
17-78078509-CT-TA c.124_125delinsTA p.L42* Nonsense 2/20 - 1
17-78078509-CT-TC c.124_125delinsTC p.L42S Missense 2/20 - 1
17-78078509-CT-TG c.124_125delinsTG p.L42W Missense 2/20 - 1
17-78078509-GCTGAGTGGC-G c.124_132del p.L42_G44del InFrameDeletion 2/20 - 1
17-78078508-GCTGAGTGGCT-G c.125_134del p.L42Pfs*97 Frameshift 2/20 - 1
17-78078509-C-CT c.125dup p.S43Efs*53 Frameshift 2/20 - 2
17-78078509-C-CTA c.125_126insAT p.S43* Nonsense 2/20 - 1
17-78078510-CT-C c.125del p.L42Rfs*100 Frameshift 2/20 - 1
17-78078510-CTGAGTGGCTCCT-C c.125_136del p.L42_S46delinsP MultiAAMissense 2/20 - 1
17-78078510-T-A c.125T>A p.L42Q Missense 2/20 - 2
17-78078510-T-C c.125T>C p.L42P Missense 2/20 - 1
17-78078510-T-G c.125T>G p.L42R Missense 2/20 - 2
17-78078510-T-TG c.126dup p.S43Efs*53 Frameshift 2/20 - 1
17-78078510-T-TGGCCATGGC c.126_127insGCCATGGCG p.L42_S43insAMA InFrameInsertion 2/20 - 1
17-78078511-G-A c.126G>A p.L42= Synonymous 2/20 - 9
17-78078511-G-C c.126G>C p.L42= Synonymous 2/20 - 6
17-78078511-G-GT c.126_127insT p.S43* Nonsense 2/20 - 1
17-78078511-G-T c.126G>T p.L42= Synonymous 2/20 - 6
17-78078511-TGAGTGGCTC-T c.126_134del p.G44_S46del InFrameDeletion 2/20 - 1
17-78078509-CTGAG-C c.127_130del p.S43Afs*98 Frameshift 2/20 - 1
17-78078512-A-C c.127A>C p.S43R Missense 2/20 - 5
17-78078512-A-G c.127A>G p.S43G Missense 2/20 - 6
17-78078512-AG-CC c.127_128delinsCC p.S43P Missense 2/20 - 3
17-78078512-AG-CT c.127_128inv p.S43L Missense 2/20 - 1
17-78078512-AG-GC c.127_128delinsGC p.S43A Missense 2/20 - 1
17-78078512-AG-TA c.127_128delinsTA p.S43Y Missense 2/20 - 3
17-78078512-AGT-GAG c.127_129delinsGAG p.S43E Missense 2/20 - 1
17-78078512-AG-TT c.127_128delinsTT p.S43F Missense 2/20 - 5
17-78078512-AGT-TGA c.127_129delinsTGA p.S43* Nonsense 2/20 - 1
17-78078512-A-T c.127A>T p.S43C Missense 2/20 - 4
17-78078512-GA-G c.127del p.S43Vfs*99 Frameshift 2/20 - 3
17-78078512-A-AG c.128dup p.S43Rfs*53 Frameshift 2/20 - 2
17-78078513-AG-A c.128del p.S43Mfs*99 Frameshift 2/20 - 1
17-78078513-AGTGGCT-A c.128_133del p.S43_S45delinsT MultiAAMissense 2/20 - 1
17-78078513-G-A c.128G>A p.S43N Missense 2/20 - 5
17-78078513-G-C c.128G>C p.S43T Missense 2/20 - 4
17-78078513-G-T c.128G>T p.S43I Missense 2/20 - 3
17-78078513-GT-AC c.128_129inv p.S43N Missense 2/20 - 1
17-78078514-GT-G c.129del p.S43Rfs*99 Frameshift 2/20 - 1
17-78078514-GTGGCTCCT-G c.129_136del p.G44Pfs*49 Frameshift 2/20 - 1
17-78078514-T-A c.129T>A p.S43R Missense 2/20 - 3
17-78078514-T-C c.129T>C p.S43= Synonymous 2/20 - 4
17-78078514-T-G c.129T>G p.S43R Missense 2/20 - 3
17-78078515-G-A c.130G>A p.G44S Missense 2/20 - 7
17-78078515-G-C c.130G>C p.G44R Missense 2/20 - 3
17-78078515-GGC-AAG c.130_132delinsAAG p.G44K Missense 2/20 - 1
17-78078515-GGC-TGA c.130_132delinsTGA p.G44* Nonsense 2/20 - 1
17-78078515-G-T c.130G>T p.G44C Missense 2/20 - 4
17-78078515-TGGCTCC-T c.130_135del p.G44_S45del InFrameDeletion 2/20 - 1
17-78078514-TG-T c.131del p.G44Afs*98 Frameshift 2/20 - 1
17-78078514-T-TG c.131dup p.S45Lfs*51 Frameshift 2/20 - 2
17-78078516-G-A c.131G>A p.G44D Missense 2/20 - 6
17-78078516-G-C c.131G>C p.G44A Missense 2/20 - 4
17-78078516-GC-AG c.131_132delinsAG p.G44E Missense 2/20 - 3
17-78078516-G-GA c.131_132insA p.S45Lfs*51 Frameshift 2/20 - 1
17-78078516-G-T c.131G>T p.G44V Missense 2/20 - 4
17-78078516-G-GC c.132dup p.S45Lfs*51 Frameshift 2/20 - 1
17-78078517-C-A c.132C>A p.G44= Synonymous 2/20 - 10
17-78078517-C-CA c.132_133insA p.S45Ifs*51 Frameshift 2/20 - 1
17-78078517-C-CAGCGTA c.132_133insAGCGTA p.S45_S46insVS InFrameInsertion 2/20 - 1
17-78078517-C-G c.132C>G p.G44= Synonymous 2/20 - 5
17-78078517-C-T c.132C>T p.G44= Synonymous 2/20 - 5
17-78078517-CT-A c.132_133delinsA p.S45Pfs*97 Frameshift 2/20 - 1
17-78078517-C-CT c.133dup p.S45Ffs*51 Frameshift 2/20 - 2
17-78078518-CT-C c.133del p.S45Pfs*97 Frameshift 2/20 - 1
17-78078518-CTCCT-C c.133_136del p.S45Pfs*96 Frameshift 2/20 - 1
17-78078518-T-A c.133T>A p.S45T Missense 2/20 - 5
17-78078518-T-C c.133T>C p.S45P Missense 2/20 - 7
17-78078518-TC-AA c.133_134delinsAA p.S45N Missense 2/20 - 3
17-78078518-TC-AT c.133_134delinsAT p.S45I Missense 2/20 - 2
17-78078518-TC-CG c.133_134delinsCG p.S45R Missense 2/20 - 1
17-78078518-TC-GG c.133_134delinsGG p.S45G Missense 2/20 - 1
17-78078518-T-G c.133T>G p.S45A Missense 2/20 - 3
17-78078519-C-A c.134C>A p.S45Y Missense 2/20 - 1
17-78078519-CC-AA c.134_135delinsAA p.S45* Nonsense 2/20 - 1
17-78078519-CC-GG c.134_135inv p.S45W Missense 2/20 - 1
17-78078519-C-G c.134C>G p.S45C Missense 2/20 - 1
17-78078519-C-T c.134C>T p.S45F Missense 2/20 - 6
17-78078518-T-TC c.135dup p.S46Lfs*50 Frameshift 2/20 - 1
17-78078519-C-CCCTCCT c.135_136insCTCCTC p.S45_S46insLL InFrameInsertion 2/20 - 1
17-78078520-C-A c.135C>A p.S45= Synonymous 2/20 - 8
17-78078520-C-G c.135C>G p.S45= Synonymous 2/20 - 3
17-78078520-C-T c.135C>T p.S45= Synonymous 2/20 - 6
17-78078516-GCTC-G c.136_138del p.S46del InFrameDeletion 2/20 - 1
17-78078518-TCCTC-T c.136_139del p.S46Qfs*95 Frameshift 2/20 - 1
17-78078519-CCT-C c.136_137del p.S46Pfs*49 Frameshift 2/20 - 1
17-78078520-C-CT c.136dup p.S46Ffs*50 Frameshift 2/20 - 3
17-78078521-CT-C c.136del p.S46Pfs*96 Frameshift 2/20 - 2
17-78078521-T-A c.136T>A p.S46T Missense 2/20 - 1
17-78078521-T-C c.136T>C p.S46P Missense 2/20 - 6
17-78078521-TC-AA c.136_137delinsAA p.S46N Missense 2/20 - 3
17-78078521-TC-AT c.136_137delinsAT p.S46I Missense 2/20 - 1
17-78078521-TC-CA c.136_137delinsCA p.S46H Missense 2/20 - 1
17-78078521-TCC-AAG c.136_138delinsAAG p.S46K Missense 2/20 - 1
17-78078521-TCC-ATG c.136_138delinsATG p.S46M Missense 2/20 - 1
17-78078521-TCC-CAA c.136_138delinsCAA p.S46Q Missense 2/20 - 1
17-78078521-TCCCCAGTCCTG-GT c.136_147delinsGT p.S46Vfs*93 Frameshift 2/20 - 1
17-78078521-TC-CG c.136_137delinsCG p.S46R Missense 2/20 - 2
17-78078521-TC-CT c.136_137delinsCT p.S46L Missense 2/20 - 2
17-78078521-TC-GG c.136_137delinsGG p.S46G Missense 2/20 - 1
17-78078521-TC-GT c.136_137delinsGT p.S46V Missense 2/20 - 1
17-78078521-T-G c.136T>G p.S46A Missense 2/20 - 3
17-78078521-T-TAGA c.136_137insAGA p.S46delins* Nonsense 2/20 - 1
17-78078522-C-A c.137C>A p.S46Y Missense 2/20 - 1
17-78078522-CC-AA c.137_138delinsAA p.S46* Nonsense 2/20 - 1
17-78078522-C-CT c.137_138insT p.V48Sfs*48 Frameshift 2/20 - 1
17-78078522-C-G c.137C>G p.S46C Missense 2/20 - 2
17-78078522-C-T c.137C>T p.S46F Missense 2/20 - 4
17-78078522-TCCCCAGTCCTGGAGGAG-T c.137_153del p.S46Yfs*44 Frameshift 2/20 - 1
17-78078522-TCCCCAGTCCTGGAG-T c.137_150del p.S46* Frameshift 2/20 - 1
17-78078523-C-A c.138C>A p.S46= Synonymous 2/20 - 4
17-78078523-C-CGCCCG c.138_139insGCCCG p.P47Afs*97 Frameshift 2/20 - 1
17-78078523-C-G c.138C>G p.S46= Synonymous 2/20 - 3
17-78078523-C-T c.138C>T p.S46= Synonymous 2/20 - 10
17-78078524-C-A c.139C>A p.P47T Missense 2/20 - 3
17-78078524-CC-AA c.139_140delinsAA p.P47K Missense 2/20 - 1
17-78078524-CCA-AAC c.139_141delinsAAC p.P47N Missense 2/20 - 1
17-78078524-CCA-GAC c.139_141delinsGAC p.P47D Missense 2/20 - 1
17-78078524-CC-AT c.139_140delinsAT p.P47I Missense 2/20 - 1
17-78078524-CCA-TAT c.139_141delinsTAT p.P47Y Missense 2/20 - 1
17-78078524-CCA-TGG c.139_141inv p.P47W Missense 2/20 - 1
17-78078524-CCA-TGT c.139_141delinsTGT p.P47C Missense 2/20 - 1
17-78078524-CCA-TTT c.139_141delinsTTT p.P47F Missense 2/20 - 1
17-78078524-CCCAGTCCTGGAGG-C c.139_151del p.P47Rfs*91 Frameshift 2/20 - 1
17-78078524-CC-GA c.139_140delinsGA p.P47E Missense 2/20 - 1
17-78078524-CC-GG c.139_140inv p.P47G Missense 2/20 - 1
17-78078524-CC-GT c.139_140delinsGT p.P47V Missense 2/20 - 1
17-78078524-C-G c.139C>G p.P47A Missense 2/20 - 6
17-78078524-C-T c.139C>T p.P47S Missense 2/20 - 9
17-78078521-TC-T c.140del p.P47Qfs*95 Frameshift 2/20 - 1
17-78078521-T-TC c.140dup p.V48Sfs*48 Frameshift 2/20 - 1
17-78078523-CCCAGTCCTGGAGGAGA-C c.140_155del p.P47Lfs*90 Frameshift 2/20 - 1
17-78078524-C-CCTTATAACAGCCTGCTATCATTACAGGAGTTGGCATCCTTTGAGGAGGTAGCTATGCACTTCACCTGGGAGGAGTAGCAGGACCTGGATGATGCTCAGAAGAAACCTGTACAGGGACATGATGCTGGAGA c.140_141insTTATAACAGCCTGCTATCATTACAGGAGTTGGCATCCTTTGAGGAGGTAGCTATGCACTTCACCTGGGAGGAGTAGCAGGACCTGGATGATGCTCAGAAGAAACCTGTACAGGGACATGATGCTGGAGAC p.V48Yfs*25 Frameshift 2/20 - 1
17-78078525-C-A c.140C>A p.P47Q Missense 2/20 - 2
17-78078525-C-G c.140C>G p.P47R Missense 2/20 - 3
17-78078525-C-T c.140C>T p.P47L Missense 2/20 - 4
17-78078525-C-CA c.141dup p.V48Sfs*48 Frameshift 2/20 - 1
17-78078526-A-C c.141A>C p.P47= Synonymous 2/20 - 5
17-78078526-A-G c.141A>G p.P47= Synonymous 2/20 - 6
17-78078526-A-T c.141A>T p.P47= Synonymous 2/20 - 5
17-78078526-CA-C c.141del p.V48Sfs*94 Frameshift 2/20 - 1
17-78078526-CAG-C c.141_142del p.V48Pfs*47 Frameshift 2/20 - 1
17-78078526-A-AG c.142dup p.V48Gfs*48 Frameshift 2/20 - 1
17-78078527-G-A c.142G>A p.V48I Missense 2/20 - 11
17-78078527-G-C c.142G>C p.V48L Missense 2/20 - 2
17-78078527-G-T c.142G>T p.V48F Missense 2/20 - 4
17-78078525-CAGTCCTGG-C c.143_150del p.V48Gfs*45 Frameshift 2/20 - 1
17-78078527-G-GT c.143dup p.L49Pfs*47 Frameshift 2/20 - 1
17-78078528-GT-G c.143del p.V48Afs*94 Frameshift 2/20 - 1
17-78078528-T-A c.143T>A p.V48D Missense 2/20 - 3
17-78078528-T-C c.143T>C p.V48A Missense 2/20 - 7
17-78078528-T-G c.143T>G p.V48G Missense 2/20 - 2
17-78078527-GTCC-G c.144_146del p.L49del InFrameDeletion 2/20 - 1
17-78078529-C-A c.144C>A p.V48= Synonymous 2/20 - 3
17-78078529-C-G c.144C>G p.V48= Synonymous 2/20 - 4
17-78078529-C-T c.144C>T p.V48= Synonymous 2/20 - 7
17-78078529-TCCTGGAGGAG-T c.144_153del p.E50Tfs*89 Frameshift 2/20 - 1
17-78078528-TC-T c.145del p.L49Wfs*93 Frameshift 2/20 - 2
17-78078528-T-TC c.145dup p.L49Pfs*47 Frameshift 2/20 - 1
17-78078530-C-A c.145C>A p.L49M Missense 2/20 - 1
17-78078530-C-G c.145C>G p.L49V Missense 2/20 - 2
17-78078530-CTG-ATC c.145_147delinsATC p.L49I Missense 2/20 - 2
17-78078530-CTG-TTT c.145_147delinsTTT p.L49F Missense 2/20 - 3
17-78078530-CT-TA c.145_146delinsTA p.L49* Nonsense 2/20 - 1
17-78078530-CT-TC c.145_146delinsTC p.L49S Missense 2/20 - 1
17-78078531-CT-C c.146del p.L49Rfs*93 Frameshift 2/20 - 1
17-78078531-CTGGAGG-C c.146_151del p.L49_E51delinsQ MultiAAMissense 2/20 - 1
17-78078531-T-A c.146T>A p.L49Q Missense 2/20 - 1
17-78078531-T-C c.146T>C p.L49P Missense 2/20 - 1
17-78078531-T-G c.146T>G p.L49R Missense 2/20 - 1
17-78078530-C-T c.145C>T p.L49= Synonymous 2/20 - 5
17-78078531-T-TGAA c.147_148insAAG p.L49_E50insK InFrameInsertion 2/20 - 1
17-78078532-G-A c.147G>A p.L49= Synonymous 2/20 - 7
17-78078532-G-C c.147G>C p.L49= Synonymous 2/20 - 4
17-78078532-G-GT c.147_148insT p.E50* Nonsense 2/20 - 3
17-78078532-G-T c.147G>T p.L49= Synonymous 2/20 - 5
17-78078532-TGG-T c.147_148del p.E50Gfs*45 Frameshift 2/20 - 1
17-78078531-TG-T c.148del p.E50Rfs*92 Frameshift 2/20 - 1
17-78078531-T-TG c.148dup p.E50Gfs*46 Frameshift 2/20 - 1
17-78078533-G-A c.148G>A p.E50K Missense 2/20 - 4
17-78078533-G-C c.148G>C p.E50Q Missense 2/20 - 3
17-78078533-GGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCA-G c.149_207del p.E50Gfs*26 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/20 - 1
17-78078533-G-T c.148G>T p.E50* Nonsense 2/20 - 1
17-78078534-A-G c.149A>G p.E50G Missense 2/20 - 4
17-78078534-GA-G c.149del p.E50Gfs*92 Frameshift 2/20 - 1
17-78078535-G-A c.150G>A p.E50= Synonymous 2/20 - 5
17-78078535-G-C c.150G>C p.E50D Missense 2/20 - 4
17-78078535-G-GT c.150_151insT p.E51* Nonsense 2/20 - 2
17-78078535-G-T c.150G>T p.E50D Missense 2/20 - 5
17-78078531-TGGA-T c.151_153del p.E51del InFrameDeletion 2/20 - 3
17-78078534-AG-A c.151del p.E51Rfs*91 Frameshift 2/20 - 2
17-78078536-G-A c.151G>A p.E51K Missense 2/20 - 11
17-78078536-GA-AC c.151_152delinsAC p.E51T Missense 2/20 - 1
17-78078536-GA-AG c.151_152delinsAG p.E51R Missense 2/20 - 1
17-78078536-GA-AT c.151_152delinsAT p.E51M Missense 2/20 - 1
17-78078536-GA-CC c.151_152delinsCC p.E51P Missense 2/20 - 1
17-78078536-GA-CT c.151_152delinsCT p.E51L Missense 2/20 - 1
17-78078536-GAG-AAC c.151_153delinsAAC p.E51N Missense 2/20 - 1
17-78078536-GAG-ATC c.151_153delinsATC p.E51I Missense 2/20 - 1
17-78078536-GAG-CAT c.151_153delinsCAT p.E51H Missense 2/20 - 1
17-78078536-GAG-TAT c.151_153delinsTAT p.E51Y Missense 2/20 - 1
17-78078536-GAG-TGT c.151_153delinsTGT p.E51C Missense 2/20 - 1
17-78078536-GAG-TTT c.151_153delinsTTT p.E51F Missense 2/20 - 1
17-78078536-GA-TC c.151_152inv p.E51S Missense 2/20 - 2
17-78078536-GA-TG c.151_152delinsTG p.E51W Missense 2/20 - 1
17-78078536-G-C c.151G>C p.E51Q Missense 2/20 - 3
17-78078536-G-T c.151G>T p.E51* Nonsense 2/20 - 2
17-78078537-A-C c.152A>C p.E51A Missense 2/20 - 2
17-78078537-A-G c.152A>G p.E51G Missense 2/20 - 4
17-78078537-A-T c.152A>T p.E51V Missense 2/20 - 3
17-78078537-A-AG c.153dup p.T52Dfs*44 Frameshift 2/20 - 1
17-78078538-AG-A c.153del p.T52Lfs*90 Frameshift 2/20 - 1
17-78078538-G-A c.153G>A p.E51= Synonymous 2/20 - 8
17-78078538-G-C c.153G>C p.E51D Missense 2/20 - 3
17-78078538-G-GTT c.153_154insTT p.T52Lfs*91 Frameshift 2/20 - 1
17-78078538-G-T c.153G>T p.E51D Missense 2/20 - 4
17-78078538-G-GA c.154dup p.T52Nfs*44 Frameshift 2/20 - 1
17-78078539-A-C c.154A>C p.T52P Missense 2/20 - 2
17-78078539-AC-TG c.154_155delinsTG p.T52C Missense 2/20 - 2
17-78078539-A-G c.154A>G p.T52A Missense 2/20 - 6
17-78078539-GA-G c.154del p.T52Lfs*90 Frameshift 2/20 - 2
17-78078539-A-AC c.155dup p.H53Sfs*43 Frameshift 2/20 - 1
17-78078539-A-T c.154A>T p.T52S Missense 2/20 - 4
17-78078540-AC-A c.155del p.T52Ifs*90 Frameshift 2/20 - 1
17-78078540-C-A c.155C>A p.T52N Missense 2/20 - 1
17-78078540-C-G c.155C>G p.T52S Missense 2/20 - 2
17-78078540-C-T c.155C>T p.T52I Missense 2/20 - 3
17-78078540-CT-TG c.155_156delinsTG p.T52M Missense 2/20 - 3
17-78078539-ACT-A c.156_157del p.H53Pfs*42 Frameshift 2/20 - 1
17-78078541-T-A c.156T>A p.T52= Synonymous 2/20 - 1
17-78078541-T-C c.156T>C p.T52= Synonymous 2/20 - 5
17-78078541-T-G c.156T>G p.T52= Synonymous 2/20 - 2
17-78078542-C-A c.157C>A p.H53N Missense 2/20 - 4
17-78078542-CA-AC c.157_158delinsAC p.H53T Missense 2/20 - 1
17-78078542-CA-AG c.157_158delinsAG p.H53S Missense 2/20 - 1
17-78078542-CA-AT c.157_158delinsAT p.H53I Missense 2/20 - 1
17-78078542-CAC-ATG c.157_159delinsATG p.H53M Missense 2/20 - 1
17-78078542-CAC-GAG c.157_159delinsGAG p.H53E Missense 2/20 - 1
17-78078542-CA-GC c.157_158delinsGC p.H53A Missense 2/20 - 1
17-78078542-CA-TG c.157_158inv p.H53C Missense 2/20 - 1
17-78078542-CA-TT c.157_158delinsTT p.H53F Missense 2/20 - 2
17-78078542-C-CG c.157_158insG p.H53Rfs*43 Frameshift 2/20 - 1
17-78078542-C-CT c.157_158insT p.H53Lfs*43 Frameshift 2/20 - 1
17-78078542-C-G c.157C>G p.H53D Missense 2/20 - 2
17-78078542-C-T c.157C>T p.H53Y Missense 2/20 - 5
17-78078542-TC-T c.157del p.H53Tfs*89 Frameshift 2/20 - 3
17-78078541-TCAC-T c.158_160del p.H53del InFrameDeletion 2/20 - 1
17-78078542-C-CA c.158dup p.H53Qfs*43 Frameshift 2/20 - 1
17-78078543-A-C c.158A>C p.H53P Missense 2/20 - 2
17-78078543-A-G c.158A>G p.H53R Missense 2/20 - 5
17-78078543-A-T c.158A>T p.H53L Missense 2/20 - 2
17-78078543-CA-C c.158del p.H53Pfs*89 Frameshift 2/20 - 1
17-78078544-C-A c.159C>A p.H53Q Missense 2/20 - 4
17-78078544-C-G c.159C>G p.H53Q Missense 2/20 - 4
17-78078544-C-T c.159C>T p.H53= Synonymous 2/20 - 7
17-78078545-C-A c.160C>A p.P54T Missense 2/20 - 3
17-78078545-C-CA c.160_161insA p.P54Hfs*42 Frameshift 2/20 - 1
17-78078545-CCA-AAC c.160_162delinsAAC p.P54N Missense 2/20 - 1
17-78078545-C-CAT c.160_161insAT p.P54Hfs*89 Frameshift 2/20 - 1
17-78078545-CC-GA c.160_161delinsGA p.P54E Missense 2/20 - 1
17-78078545-C-G c.160C>G p.P54A Missense 2/20 - 2
17-78078545-C-T c.160C>T p.P54S Missense 2/20 - 8
17-78078543-A-AC c.161dup p.A55Sfs*41 Frameshift 2/20 - 1
17-78078543-AC-A c.161del p.P54Qfs*88 Frameshift 2/20 - 1
17-78078545-C-CCTTATAACAGCCTGCTATCATTACAGGAGTTGGCATCCTTTGAGGAGGTAGCTATGCACTTCACCTGGGAGGAGTAGCAGGACCTGGATGATGCTCAGAAGAAACCTGTACAGGGACATGATGCTGGAGA c.161_162insTTATAACAGCCTGCTATCATTACAGGAGTTGGCATCCTTTGAGGAGGTAGCTATGCACTTCACCTGGGAGGAGTAGCAGGACCTGGATGATGCTCAGAAGAAACCTGTACAGGGACATGATGCTGGAGAC p.A55Yfs*25 Frameshift 2/20 - 1
17-78078546-C-A c.161C>A p.P54Q Missense 2/20 - 1
17-78078546-CA-AT c.161_162delinsAT p.P54H Missense 2/20 - 2
17-78078546-C-G c.161C>G p.P54R Missense 2/20 - 4
17-78078546-C-T c.161C>T p.P54L Missense 2/20 - 9
17-78078546-C-CA c.162dup p.A55Sfs*41 Frameshift 2/20 - 2
17-78078547-A-AATGAGGAT c.162_163insATGAGGAT p.A55Mfs*90 Frameshift 2/20 - 1
17-78078547-A-ACTATATT c.162_163insCTATATT p.A55Lfs*43 Frameshift 2/20 - 1
17-78078547-A-AT c.162_163insT p.A55Cfs*41 Frameshift 2/20 - 1
17-78078547-A-ATTC c.162_163insTTC p.P54_A55insF InFrameInsertion 2/20 - 1
17-78078547-A-C c.162A>C p.P54= Synonymous 2/20 - 6
17-78078547-A-G c.162A>G p.P54= Synonymous 2/20 - 8
17-78078547-A-T c.162A>T p.P54= Synonymous 2/20 - 3
17-78078547-CA-C c.162del p.A55Lfs*87 Frameshift 2/20 - 1
17-78078545-CCAGCT-C c.163_167del p.A55Pfs*39 Frameshift 2/20 - 1
17-78078548-AGCTCAC-A c.163_168del p.A55_H56del InFrameDeletion 2/20 - 1
17-78078548-G-A c.163G>A p.A55T Missense 2/20 - 4
17-78078548-G-C c.163G>C p.A55P Missense 2/20 - 1
17-78078548-GC-CG c.163_164delinsCG p.A55R Missense 2/20 - 1
17-78078548-GC-CT c.163_164delinsCT p.A55L Missense 2/20 - 1
17-78078548-GC-TG c.163_164delinsTG p.A55C Missense 2/20 - 1
17-78078548-GCT-TAA c.163_165delinsTAA p.A55* Nonsense 2/20 - 1
17-78078548-G-GC c.164dup p.H56Sfs*40 Frameshift 2/20 - 1
17-78078549-C-A c.164C>A p.A55D Missense 2/20 - 4
17-78078549-C-G c.164C>G p.A55G Missense 2/20 - 1
17-78078549-C-T c.164C>T p.A55V Missense 2/20 - 6
17-78078549-CT-AG c.164_165inv p.A55E Missense 2/20 - 3
17-78078550-CT-C c.165del p.H56Tfs*86 Frameshift 2/20 - 1
17-78078550-T-A c.165T>A p.A55= Synonymous 2/20 - 6
17-78078550-T-C c.165T>C p.A55= Synonymous 2/20 - 6
17-78078550-T-G c.165T>G p.A55= Synonymous 2/20 - 5
17-78078550-T-TAG c.165_166insAG p.H56Sfs*87 Frameshift 2/20 - 1
17-78078551-C-A c.166C>A p.H56N Missense 2/20 - 3
17-78078551-CA-GG c.166_167delinsGG p.H56G Missense 2/20 - 2
17-78078551-C-G c.166C>G p.H56D Missense 2/20 - 1
17-78078551-C-T c.166C>T p.H56Y Missense 2/20 - 7
17-78078551-TC-T c.166del p.H56Tfs*86 Frameshift 2/20 - 1
17-78078552-A-C c.167A>C p.H56P Missense 2/20 - 1
17-78078552-A-G c.167A>G p.H56R Missense 2/20 - 3
17-78078552-A-T c.167A>T p.H56L Missense 2/20 - 2
17-78078552-CA-C c.167del p.H56Pfs*86 Frameshift 2/20 - 1
17-78078553-C-CA c.168_169insA p.Q57Tfs*39 Frameshift 2/20 - 1
17-78078553-C-CTT c.168_169insTT p.Q57Ffs*86 Frameshift 2/20 - 1
17-78078553-C-G c.168C>G p.H56Q Missense 2/20 - 2
17-78078553-C-T c.168C>T p.H56= Synonymous 2/20 - 5
17-78078552-A-AC c.169dup p.Q57Pfs*39 Frameshift 2/20 - 1
17-78078552-AC-A c.169del p.Q57Sfs*85 Frameshift 2/20 - 3
17-78078554-C-A c.169C>A p.Q57K Missense 2/20 - 5
17-78078554-C-CTTTATGAAGAGA c.169_170insTTTATGAAGAGA p.Q57delinsLYEEK MultiAAMissense 2/20 - 1
17-78078554-C-G c.169C>G p.Q57E Missense 2/20 - 4
17-78078554-C-T c.169C>T p.Q57* Nonsense 2/20 - 12
17-78078555-A-C c.170A>C p.Q57P Missense 2/20 - 2
17-78078555-A-G c.170A>G p.Q57R Missense 2/20 - 4
17-78078555-A-T c.170A>T p.Q57L Missense 2/20 - 3
17-78078555-A-AG c.171dup p.Q58Afs*38 Frameshift 2/20 - 1
17-78078556-AG-A c.171del p.Q57Hfs*85 Frameshift 2/20 - 2
17-78078556-G-A c.171G>A p.Q57= Synonymous 2/20 - 10
17-78078556-G-C c.171G>C p.Q57H Missense 2/20 - 8
17-78078556-G-GA c.171_172insA p.Q58Tfs*38 Frameshift 2/20 - 1
17-78078556-G-GAC c.171_172insAC p.Q58Tfs*85 Frameshift 2/20 - 1
17-78078556-G-T c.171G>T p.Q57H Missense 2/20 - 11
17-78078556-G-GC c.172dup p.Q58Pfs*38 Frameshift 2/20 - 1
17-78078556-G-GCT c.172_173insTC p.Q58Lfs*85 Frameshift 2/20 - 2
17-78078557-C-A c.172C>A p.Q58K Missense 2/20 - 3
17-78078557-CA-AC c.172_173delinsAC p.Q58T Missense 2/20 - 1
17-78078557-CAG-ATC c.172_174delinsATC p.Q58I Missense 2/20 - 1
17-78078557-C-G c.172C>G p.Q58E Missense 2/20 - 2
17-78078557-C-T c.172C>T p.Q58* Nonsense 2/20 - 11
17-78078557-GC-G c.172del p.Q58Rfs*84 Frameshift 2/20 - 2
17-78078558-A-C c.173A>C p.Q58P Missense 2/20 - 2
17-78078558-A-G c.173A>G p.Q58R Missense 2/20 - 3
17-78078558-A-T c.173A>T p.Q58L Missense 2/20 - 6
17-78078558-CA-C c.173del p.Q58Rfs*84 Frameshift 2/20 - 1
17-78078558-CAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCA-C c.173_231del p.Q58Rfs*18 Frameshift 2/20 - 1
17-78078559-G-A c.174G>A p.Q58= Synonymous 2/20 - 6
17-78078559-G-C c.174G>C p.Q58H Missense 2/20 - 3
17-78078559-G-T c.174G>T p.Q58H Missense 2/20 - 4
17-78078560-G-A c.175G>A p.G59R Missense 2/20 - 8
17-78078560-G-C c.175G>C p.G59R Missense 2/20 - 6
17-78078560-GG-AA c.175_176delinsAA p.G59K Missense 2/20 - 1
17-78078560-GGA-AAC c.175_177delinsAAC p.G59N Missense 2/20 - 2
17-78078560-GGA-AGC c.175_177delinsAGC p.G59S Missense 2/20 - 3
17-78078560-GG-AC c.175_176delinsAC p.G59T Missense 2/20 - 2
17-78078560-GGA-CAT c.175_177delinsCAT p.G59H Missense 2/20 - 1
17-78078560-GG-AT c.175_176delinsAT p.G59I Missense 2/20 - 2
17-78078560-GGA-TAT c.175_177delinsTAT p.G59Y Missense 2/20 - 2
17-78078560-GGA-TGG c.175_177delinsTGG p.G59W Missense 2/20 - 1
17-78078560-GGA-TGT c.175_177delinsTGT p.G59C Missense 2/20 - 4
17-78078560-GGA-TTT c.175_177delinsTTT p.G59F Missense 2/20 - 2
17-78078560-GG-CA c.175_176delinsCA p.G59Q Missense 2/20 - 1
17-78078560-GG-CC c.175_176inv p.G59P Missense 2/20 - 2
17-78078560-GG-CT c.175_176delinsCT p.G59L Missense 2/20 - 1
17-78078560-G-T c.175G>T p.G59* Nonsense 2/20 - 3
17-78078558-A-AG c.176dup p.A60Sfs*36 Frameshift 2/20 - 1
17-78078558-AG-A c.176del p.G59Efs*83 Frameshift 2/20 - 1
17-78078561-G-A c.176G>A p.G59E Missense 2/20 - 8
17-78078561-GA-AC c.176_177delinsAC p.G59D Missense 2/20 - 3
17-78078561-G-C c.176G>C p.G59A Missense 2/20 - 4
17-78078561-G-GT c.176_177insT p.A60Sfs*36 Frameshift 2/20 - 1
17-78078561-G-T c.176G>T p.G59V Missense 2/20 - 5
17-78078561-G-GA c.177dup p.A60Sfs*36 Frameshift 2/20 - 2
17-78078562-A-AACTTAGTAGGAAGGGGAAAAAG c.177_178insACTTAGTAGGAAGGGGAAAAAG p.A60Tfs*2 Frameshift 2/20 - 1
17-78078562-A-C c.177A>C p.G59= Synonymous 2/20 - 4
17-78078562-A-G c.177A>G p.G59= Synonymous 2/20 - 9
17-78078562-A-T c.177A>T p.G59= Synonymous 2/20 - 6
17-78078562-GA-G c.177del p.A60Pfs*82 Frameshift 2/20 - 1
17-78078563-AGC-A c.178_179del p.A60Qfs*35 Frameshift 2/20 - 1
17-78078563-AGCC-A c.178_180del p.A60del InFrameDeletion 2/20 - 1
17-78078563-AGCCAGC-A c.178_183del p.A60_S61del InFrameDeletion 2/20 - 1
17-78078563-G-A c.178G>A p.A60T Missense 2/20 - 5
17-78078563-G-C c.178G>C p.A60P Missense 2/20 - 1
17-78078563-GC-TT c.178_179delinsTT p.A60F Missense 2/20 - 1
17-78078563-G-T c.178G>T p.A60S Missense 2/20 - 5
17-78078561-GAGCCAGCAGACC-G c.179_190del p.A60_P63del InFrameDeletion 2/20 - 1
17-78078564-C-A c.179C>A p.A60D Missense 2/20 - 2
17-78078564-CC-AG c.179_180delinsAG p.A60E Missense 2/20 - 2
17-78078564-C-G c.179C>G p.A60G Missense 2/20 - 2
17-78078564-C-T c.179C>T p.A60V Missense 2/20 - 8
17-78078563-G-GC c.180dup p.S61Qfs*35 Frameshift 2/20 - 1
17-78078565-C-A c.180C>A p.A60= Synonymous 2/20 - 6
17-78078565-C-CT c.180_181insT p.S61* Nonsense 2/20 - 3
17-78078565-C-G c.180C>G p.A60= Synonymous 2/20 - 5
17-78078565-C-T c.180C>T p.A60= Synonymous 2/20 - 8
17-78078566-A-G c.181A>G p.S61G Missense 2/20 - 6
17-78078566-AG-CC c.181_182delinsCC p.S61P Missense 2/20 - 1
17-78078566-AG-GC c.181_182delinsGC p.S61A Missense 2/20 - 2
17-78078566-A-T c.181A>T p.S61C Missense 2/20 - 1
17-78078566-A-AG c.182dup p.S61Rfs*35 Frameshift 2/20 - 1
17-78078567-G-A c.182G>A p.S61N Missense 2/20 - 5
17-78078567-G-C c.182G>C p.S61T Missense 2/20 - 1
17-78078566-A-C c.181A>C p.S61R Missense 2/20 - 3
17-78078568-C-A c.183C>A p.S61R Missense 2/20 - 2
17-78078568-C-CT c.183_184insT p.R62* Nonsense 2/20 - 2
17-78078568-C-G c.183C>G p.S61R Missense 2/20 - 1
17-78078568-C-T c.183C>T p.S61= Synonymous 2/20 - 5
17-78078568-C-CA c.184dup p.R62Kfs*34 Frameshift 2/20 - 1
17-78078568-C-CAAAAAAAAAAA c.184_185insAAAAAAAAAAA p.R62Kfs*84 Frameshift 2/20 - 1
17-78078569-A-G c.184A>G p.R62G Missense 2/20 - 6
17-78078569-AGA-CAT c.184_186delinsCAT p.R62H Missense 2/20 - 1
17-78078569-AGA-TGG c.184_186delinsTGG p.R62W Missense 2/20 - 1
17-78078569-AG-CA c.184_185delinsCA p.R62Q Missense 2/20 - 4
17-78078569-AG-CT c.184_185inv p.R62L Missense 2/20 - 2
17-78078569-AG-GC c.184_185delinsGC p.R62A Missense 2/20 - 1
17-78078569-A-T c.184A>T p.R62* Nonsense 2/20 - 2
17-78078569-CA-C c.184del p.R62Dfs*80 Frameshift 2/20 - 1
17-78078569-CAGA-C c.184_186del p.R62del InFrameDeletion 2/20 - 1
17-78078569-A-AG c.185dup p.P63Tfs*33 Frameshift 2/20 - 1
17-78078570-G-A c.185G>A p.R62K Missense 2/20 - 7
17-78078570-G-C c.185G>C p.R62T Missense 2/20 - 1
17-78078570-G-T c.185G>T p.R62I Missense 2/20 - 2
17-78078569-A-C c.184A>C p.R62= Synonymous 2/20 - 5
17-78078570-G-GA c.186dup p.P63Tfs*33 Frameshift 2/20 - 2
17-78078571-A-AGAAGAC c.186_187insGAAGAC p.R62_P63insED InFrameInsertion 2/20 - 1
17-78078571-A-C c.186A>C p.R62S Missense 2/20 - 3
17-78078571-A-G c.186A>G p.R62= Synonymous 2/20 - 5
17-78078571-A-T c.186A>T p.R62S Missense 2/20 - 4
17-78078571-GA-G c.186del p.R62Sfs*80 Frameshift 2/20 - 1
17-78078570-G-GACTCTGTC c.187_188insTCTGTCAC p.P63Lfs*82 Frameshift 2/20 - 1
17-78078572-ACCAGGGCCCCGGGAT-A c.187_201del p.P63_D67del InFrameDeletion 2/20 - 1
17-78078572-CCA-TTT c.187_189delinsTTT p.P63F Missense 2/20 - 1
17-78078572-C-G c.187C>G p.P63A Missense 2/20 - 5
17-78078572-C-T c.187C>T p.P63S Missense 2/20 - 3
17-78078571-A-AC c.188dup p.G64Rfs*32 Frameshift 2/20 - 1
17-78078571-AC-A c.188del p.P63Qfs*79 Frameshift 2/20 - 1
17-78078573-C-A c.188C>A p.P63Q Missense 2/20 - 2
17-78078573-CA-AT c.188_189delinsAT p.P63H Missense 2/20 - 1
17-78078573-C-G c.188C>G p.P63R Missense 2/20 - 1
17-78078573-C-T c.188C>T p.P63L Missense 2/20 - 3
17-78078571-ACCAGGG-A c.189_194del p.G64_P65del InFrameDeletion 2/20 - 1
17-78078573-C-CA c.189dup p.G64Rfs*32 Frameshift 2/20 - 1
17-78078574-A-C c.189A>C p.P63= Synonymous 2/20 - 5
17-78078574-A-G c.189A>G p.P63= Synonymous 2/20 - 4
17-78078574-A-T c.189A>T p.P63= Synonymous 2/20 - 3
17-78078574-CA-C c.189del p.R66Gfs*76 Frameshift 2/20 - 3
17-78078575-G-A c.190G>A p.G64R Missense 2/20 - 7
17-78078575-G-C c.190G>C p.G64R Missense 2/20 - 3
17-78078575-GGG-AGC c.190_192delinsAGC p.G64S Missense 2/20 - 2
17-78078575-GG-TA c.190_191delinsTA p.G64* Nonsense 2/20 - 1
17-78078575-G-T c.190G>T p.G64W Missense 2/20 - 2
17-78078574-AGG-A c.191_192del p.G64Afs*31 Frameshift 2/20 - 1
17-78078576-G-A c.191G>A p.G64E Missense 2/20 - 6
17-78078576-G-C c.191G>C p.G64A Missense 2/20 - 2
17-78078576-G-T c.191G>T p.G64V Missense 2/20 - 2
17-78078574-A-AG c.192dup p.P65Afs*31 Frameshift 2/20 - 1
17-78078574-AG-A c.192del p.R66Gfs*76 Frameshift 2/20 - 1
17-78078577-G-A c.192G>A p.G64= Synonymous 2/20 - 6
17-78078577-G-C c.192G>C p.G64= Synonymous 2/20 - 3
17-78078577-G-T c.192G>T p.G64= Synonymous 2/20 - 3
17-78078578-C-A c.193C>A p.P65T Missense 2/20 - 3
17-78078578-CCC-TAA c.193_195delinsTAA p.P65* Nonsense 2/20 - 1
17-78078578-C-G c.193C>G p.P65A Missense 2/20 - 1
17-78078578-C-T c.193C>T p.P65S Missense 2/20 - 7
17-78078579-C-A c.194C>A p.P65H Missense 2/20 - 2
17-78078579-CC-AA c.194_195delinsAA p.P65Q Missense 2/20 - 1
17-78078579-C-CAAA c.194_195insAAA p.P65_R66insN InFrameInsertion 2/20 - 1
17-78078579-C-CAGAG c.194_195insAGAG p.R66Efs*31 Frameshift 2/20 - 1
17-78078579-C-G c.194C>G p.P65R Missense 2/20 - 2
17-78078579-C-T c.194C>T p.P65L Missense 2/20 - 3
17-78078580-C-A c.195C>A p.P65= Synonymous 2/20 - 3
17-78078580-C-CAATT c.195_196insAATT p.R66Nfs*31 Frameshift 2/20 - 1
17-78078580-C-CTT c.195_196insTT p.R66Ffs*77 Frameshift 2/20 - 1
17-78078580-C-G c.195C>G p.P65= Synonymous 2/20 - 2
17-78078580-C-T c.195C>T p.P65= Synonymous 2/20 - 8
17-78078577-G-GC c.196dup p.R66Pfs*30 Frameshift 2/20 - 2
17-78078581-C-A c.196C>A p.R66= Synonymous 2/20 - 3
17-78078581-C-CAGAAAGAGGAGGAGG c.196_197insAGAAAGAGGAGGAGG p.R66delinsQKEEEG MultiAAMissense 2/20 - 2
17-78078581-C-CT c.196_197insT p.R66Lfs*30 Frameshift 2/20 - 1
17-78078581-C-G c.196C>G p.R66G Missense 2/20 - 2
17-78078581-CG-AA c.196_197delinsAA p.R66K Missense 2/20 - 2
17-78078581-CG-AC c.196_197delinsAC p.R66T Missense 2/20 - 2
17-78078581-CG-AT c.196_197delinsAT p.R66M Missense 2/20 - 1
17-78078581-CGG-AGC c.196_198delinsAGC p.R66S Missense 2/20 - 1
17-78078581-CGG-ATC c.196_198delinsATC p.R66I Missense 2/20 - 1
17-78078581-CGG-TGT c.196_198delinsTGT p.R66C Missense 2/20 - 3
17-78078581-CG-TA c.196_197delinsTA p.R66* Nonsense 2/20 - 2
17-78078581-C-T c.196C>T p.R66W Missense 2/20 - 8
17-78078582-CGGG-C c.197_199del p.R66_D67delinsH MultiAAMissense 2/20 - 1
17-78078582-G-A c.197G>A p.R66Q Missense 2/20 - 3
17-78078582-G-C c.197G>C p.R66P Missense 2/20 - 1
17-78078583-G-A c.198G>A p.R66= Synonymous 2/20 - 4
17-78078583-G-C c.198G>C p.R66= Synonymous 2/20 - 1
17-78078583-G-GCTATTCA c.198_199insCTATTCA p.D67Lfs*31 Frameshift 2/20 - 1
17-78078583-GGGATGC-G c.198_203del p.D67_A68del InFrameDeletion 2/20 - 1
17-78078583-G-GT c.198_199insT p.D67* Nonsense 2/20 - 2
17-78078583-G-T c.198G>T p.R66= Synonymous 2/20 - 4
17-78078581-C-CG c.199dup p.D67Gfs*29 Frameshift 2/20 - 1
17-78078583-G-GGTGAGAGGTTTGA c.199_200insTGAGAGGTTTGAG p.D67Vfs*33 Frameshift 2/20 - 1
17-78078584-G-A c.199G>A p.D67N Missense 2/20 - 13
17-78078584-G-C c.199G>C p.D67H Missense 2/20 - 1
17-78078584-GGA-G c.199_200del p.D67Cfs*28 Frameshift 2/20 - 1
17-78078585-A-AGGTT c.200_201insGGTT p.D67Efs*30 Frameshift 2/20 - 1
17-78078585-A-C c.200A>C p.D67A Missense 2/20 - 3
17-78078585-A-G c.200A>G p.D67G Missense 2/20 - 8
17-78078585-A-T c.200A>T p.D67V Missense 2/20 - 2
17-78078585-GA-G c.200del p.D67Vfs*75 Frameshift 2/20 - 2
17-78078585-A-AT c.201dup p.A68Cfs*28 Frameshift 2/20 - 1
17-78078586-AT-A c.201del p.D67Efs*75 Frameshift 2/20 - 1
17-78078586-T-A c.201T>A p.D67E Missense 2/20 - 3
17-78078586-T-C c.201T>C p.D67= Synonymous 2/20 - 5
17-78078586-T-G c.201T>G p.D67E Missense 2/20 - 3
17-78078587-G-A c.202G>A p.A68T Missense 2/20 - 9
17-78078587-G-C c.202G>C p.A68P Missense 2/20 - 2
17-78078587-GCC-AAG c.202_204delinsAAG p.A68K Missense 2/20 - 2
17-78078587-GCC-ATG c.202_204delinsATG p.A68M Missense 2/20 - 1
17-78078587-GCC-CAA c.202_204delinsCAA p.A68Q Missense 2/20 - 1
17-78078587-GC-CT c.202_203delinsCT p.A68L Missense 2/20 - 1
17-78078587-GCC-TAA c.202_204delinsTAA p.A68* Nonsense 2/20 - 1
17-78078587-G-T c.202G>T p.A68S Missense 2/20 - 3
17-78078588-C-A c.203C>A p.A68D Missense 2/20 - 1
17-78078588-CC-AG c.203_204delinsAG p.A68E Missense 2/20 - 2
17-78078588-C-G c.203C>G p.A68G Missense 2/20 - 1
17-78078588-C-T c.203C>T p.A68V Missense 2/20 - 3
17-78078589-C-A c.204C>A p.A68= Synonymous 2/20 - 4
17-78078589-C-G c.204C>G p.A68= Synonymous 2/20 - 5
17-78078589-C-T c.204C>T p.A68= Synonymous 2/20 - 6
17-78078587-G-GC c.205dup p.Q69Pfs*27 Frameshift 2/20 - 1
17-78078590-C-A c.205C>A p.Q69K Missense 2/20 - 4
17-78078590-CA-AT c.205_206delinsAT p.Q69M Missense 2/20 - 1
17-78078590-CA-GT c.205_206delinsGT p.Q69V Missense 2/20 - 1
17-78078590-CA-TG c.205_206inv p.Q69W Missense 2/20 - 1
17-78078590-C-G c.205C>G p.Q69E Missense 2/20 - 3
17-78078590-C-T c.205C>T p.Q69* Nonsense 2/20 - 8
17-78078590-C-CA c.206dup p.A70Gfs*26 Frameshift 2/20 - 2
17-78078591-A-C c.206A>C p.Q69P Missense 2/20 - 3
17-78078591-A-G c.206A>G p.Q69R Missense 2/20 - 3
17-78078591-A-T c.206A>T p.Q69L Missense 2/20 - 2
17-78078591-CA-C c.206del p.Q69Rfs*73 Frameshift 2/20 - 1
17-78078592-G-A c.207G>A p.Q69= Synonymous 2/20 - 8
17-78078592-G-C c.207G>C p.Q69H Missense 2/20 - 2
17-78078592-G-T c.207G>T p.Q69H Missense 2/20 - 2
17-78078591-A-AG c.208dup p.A70Gfs*26 Frameshift 2/20 - 1
17-78078591-AG-A c.208del p.A70Hfs*72 Frameshift 2/20 - 2
17-78078593-G-A c.208G>A p.A70T Missense 2/20 - 9
17-78078593-G-C c.208G>C p.A70P Missense 2/20 - 4
17-78078593-GC-AA c.208_209delinsAA p.A70K Missense 2/20 - 1
17-78078593-GCA-AAC c.208_210delinsAAC p.A70N Missense 2/20 - 1
17-78078593-GCA-ATG c.208_210delinsATG p.A70M Missense 2/20 - 1
17-78078593-GCA-CAT c.208_210delinsCAT p.A70H Missense 2/20 - 1
17-78078593-GC-AG c.208_209delinsAG p.A70R Missense 2/20 - 1
17-78078593-GC-AT c.208_209delinsAT p.A70I Missense 2/20 - 3
17-78078593-GCA-TAT c.208_210delinsTAT p.A70Y Missense 2/20 - 2
17-78078593-GCA-TGG c.208_210delinsTGG p.A70W Missense 2/20 - 1
17-78078593-GCA-TGT c.208_210delinsTGT p.A70C Missense 2/20 - 1
17-78078593-GCA-TTT c.208_210delinsTTT p.A70F Missense 2/20 - 2
17-78078593-GC-CA c.208_209delinsCA p.A70Q Missense 2/20 - 1
17-78078593-GC-CT c.208_209delinsCT p.A70L Missense 2/20 - 1
17-78078593-GC-TA c.208_209delinsTA p.A70* Nonsense 2/20 - 1
17-78078593-GGCA-G c.208_210del p.A70del InFrameDeletion 2/20 - 1
17-78078593-G-T c.208G>T p.A70S Missense 2/20 - 6
17-78078594-C-A c.209C>A p.A70E Missense 2/20 - 5
17-78078594-CA-AC c.209_210delinsAC p.A70D Missense 2/20 - 4
17-78078594-C-CTCTGAA c.209_210insTCTGAA p.A70_H71insLK InFrameInsertion 2/20 - 1
17-78078594-C-G c.209C>G p.A70G Missense 2/20 - 5
17-78078594-C-T c.209C>T p.A70V Missense 2/20 - 6
17-78078594-GC-G c.209del p.A70Dfs*72 Frameshift 2/20 - 1
17-78078593-GCACACCCCGGCCGTC-G c.210_224del p.H71_P75del InFrameDeletion 2/20 - 1
17-78078593-GCACA-G c.210_213del p.H71Pfs*70 Frameshift 2/20 - 1
17-78078594-C-CA c.210dup p.H71Tfs*25 Frameshift 2/20 - 1
17-78078595-A-C c.210A>C p.A70= Synonymous 2/20 - 2
17-78078595-A-G c.210A>G p.A70= Synonymous 2/20 - 6
17-78078595-A-T c.210A>T p.A70= Synonymous 2/20 - 3
17-78078595-CA-C c.210del p.H71Tfs*71 Frameshift 2/20 - 2
17-78078595-A-AC c.211dup p.H71Pfs*25 Frameshift 2/20 - 1
17-78078596-C-A c.211C>A p.H71N Missense 2/20 - 2
17-78078596-C-CT c.211_212insT p.H71Lfs*25 Frameshift 2/20 - 1
17-78078596-C-T c.211C>T p.H71Y Missense 2/20 - 1
17-78078595-ACAC-A c.212_214del p.H71del InFrameDeletion 2/20 - 1
17-78078596-C-CA c.212dup p.H71Qfs*25 Frameshift 2/20 - 1
17-78078596-C-CAAGAAAGAGA c.212_213insAGAAAGAGAA p.H71Qfs*28 Frameshift 2/20 - 1
17-78078597-A-AT c.212_213insT p.G73Rfs*23 Frameshift 2/20 - 1
17-78078597-A-G c.212A>G p.H71R Missense 2/20 - 3
17-78078597-A-T c.212A>T p.H71L Missense 2/20 - 3
17-78078597-CA-C c.212del p.H71Pfs*71 Frameshift 2/20 - 2
17-78078598-C-A c.213C>A p.H71Q Missense 2/20 - 2
17-78078598-CC-A c.213_214delinsA p.H71Qfs*71 Frameshift 2/20 - 1
17-78078598-C-G c.213C>G p.H71Q Missense 2/20 - 2
17-78078598-C-T c.213C>T p.H71= Synonymous 2/20 - 4
17-78078597-ACCC-A c.214_216del p.P72del InFrameDeletion 2/20 - 1
17-78078599-C-A c.214C>A p.P72T Missense 2/20 - 3
17-78078599-C-G c.214C>G p.P72A Missense 2/20 - 3
17-78078599-C-T c.214C>T p.P72S Missense 2/20 - 6
17-78078600-C-A c.215C>A p.P72H Missense 2/20 - 3
17-78078600-CC-AA c.215_216delinsAA p.P72Q Missense 2/20 - 2
17-78078600-C-CGGGAGGG c.215_216insGGGAGGG p.R74Gfs*24 Frameshift 2/20 - 1
17-78078600-C-G c.215C>G p.P72R Missense 2/20 - 3
17-78078600-C-T c.215C>T p.P72L Missense 2/20 - 7
17-78078597-A-AC c.216dup p.G73Rfs*23 Frameshift 2/20 - 1
17-78078597-AC-A c.216del p.G73Afs*69 Frameshift 2/20 - 2
17-78078601-C-A c.216C>A p.P72= Synonymous 2/20 - 3
17-78078601-C-CA c.216_217insA p.G73Rfs*23 Frameshift 2/20 - 1
17-78078601-C-CAAAAAAAAAA c.216_217insAAAAAAAAAA p.G73Kfs*26 Frameshift 2/20 - 1
17-78078601-C-CAAAAAAAAAAAAA c.216_217insAAAAAAAAAAAAA p.G73Kfs*27 Frameshift 2/20 - 1
17-78078601-CCG-C c.216_217del p.G73Pfs*22 Frameshift 2/20 - 1
17-78078601-C-G c.216C>G p.P72= Synonymous 2/20 - 4
17-78078601-C-T c.216C>T p.P72= Synonymous 2/20 - 8
17-78078602-G-A c.217G>A p.G73S Missense 2/20 - 5
17-78078602-G-C c.217G>C p.G73R Missense 2/20 - 4
17-78078602-G-T c.217G>T p.G73C Missense 2/20 - 1
17-78078601-C-CG c.218dup p.R74Pfs*22 Frameshift 2/20 - 3
17-78078603-G-A c.218G>A p.G73D Missense 2/20 - 1
17-78078603-G-C c.218G>C p.G73A Missense 2/20 - 2
17-78078603-GC-AG c.218_219delinsAG p.G73E Missense 2/20 - 3
17-78078603-GGC-G c.218_219del p.G73Afs*22 Frameshift 2/20 - 1
17-78078603-G-T c.218G>T p.G73V Missense 2/20 - 1
17-78078604-C-A c.219C>A p.G73= Synonymous 2/20 - 3
17-78078604-C-G c.219C>G p.G73= Synonymous 2/20 - 3
17-78078604-C-T c.219C>T p.G73= Synonymous 2/20 - 5
17-78078604-GCC-G c.219_220del p.R74Sfs*21 Frameshift 2/20 - 1
17-78078603-GC-G c.220del p.R74Vfs*68 Frameshift 2/20 - 1
17-78078603-G-GC c.220dup p.R74Pfs*22 Frameshift 2/20 - 1
17-78078605-C-A c.220C>A p.R74S Missense 2/20 - 3
17-78078605-C-CAT c.220_221insAT p.R74Hfs*69 Frameshift 2/20 - 1
17-78078605-C-G c.220C>G p.R74G Missense 2/20 - 1
17-78078605-CG-AC c.220_221delinsAC p.R74T Missense 2/20 - 1
17-78078605-CG-AT c.220_221delinsAT p.R74I Missense 2/20 - 1
17-78078605-CGT-ATG c.220_222delinsATG p.R74M Missense 2/20 - 1
17-78078605-CGT-TGA c.220_222delinsTGA p.R74* Nonsense 2/20 - 1
17-78078605-CGT-TGG c.220_222delinsTGG p.R74W Missense 2/20 - 1
17-78078605-C-T c.220C>T p.R74C Missense 2/20 - 6
17-78078606-CGT-C c.221_222del p.R74Pfs*21 Frameshift 2/20 - 1
17-78078606-CGTCCCAGAGCAGTGCCCACACAGTG-C c.221_245del p.R74Pfs*60 Frameshift 2/20 - 1
17-78078606-G-A c.221G>A p.R74H Missense 2/20 - 4
17-78078606-G-C c.221G>C p.R74P Missense 2/20 - 1
17-78078606-G-T c.221G>T p.R74L Missense 2/20 - 2
17-78078606-GT-AA c.221_222delinsAA p.R74Q Missense 2/20 - 3
17-78078607-T-A c.222T>A p.R74= Synonymous 2/20 - 2
17-78078607-T-C c.222T>C p.R74= Synonymous 2/20 - 6
17-78078607-T-G c.222T>G p.R74= Synonymous 2/20 - 3
17-78078608-C-A c.223C>A p.P75T Missense 2/20 - 3
17-78078608-CC-AA c.223_224delinsAA p.P75N Missense 2/20 - 1
17-78078608-CC-AT c.223_224delinsAT p.P75I Missense 2/20 - 1
17-78078608-CCC-AAG c.223_225delinsAAG p.P75K Missense 2/20 - 1
17-78078608-CCC-ATG c.223_225delinsATG p.P75M Missense 2/20 - 1
17-78078608-CCC-GAG c.223_225delinsGAG p.P75E Missense 2/20 - 1
17-78078608-CC-GA c.223_224delinsGA p.P75D Missense 2/20 - 1
17-78078608-CC-GG c.223_224inv p.P75G Missense 2/20 - 1
17-78078608-CC-GT c.223_224delinsGT p.P75V Missense 2/20 - 1
17-78078608-CC-TA c.223_224delinsTA p.P75Y Missense 2/20 - 1
17-78078608-CC-TG c.223_224delinsTG p.P75C Missense 2/20 - 1
17-78078608-CC-TT c.223_224delinsTT p.P75F Missense 2/20 - 1
17-78078608-C-G c.223C>G p.P75A Missense 2/20 - 4
17-78078608-C-T c.223C>T p.P75S Missense 2/20 - 7
17-78078609-C-A c.224C>A p.P75H Missense 2/20 - 2
17-78078609-CC-AA c.224_225delinsAA p.P75Q Missense 2/20 - 2
17-78078609-C-G c.224C>G p.P75R Missense 2/20 - 1
17-78078609-C-T c.224C>T p.P75L Missense 2/20 - 6
17-78078607-TC-T c.225del p.R76Efs*66 Frameshift 2/20 - 1
17-78078607-T-TC c.225dup p.R76Qfs*20 Frameshift 2/20 - 1
17-78078610-C-A c.225C>A p.P75= Synonymous 2/20 - 3
17-78078610-C-CT c.225_226insT p.R76* Nonsense 2/20 - 2
17-78078610-C-G c.225C>G p.P75= Synonymous 2/20 - 2
17-78078610-C-T c.225C>T p.P75= Synonymous 2/20 - 2
17-78078610-C-CA c.226dup p.R76Kfs*20 Frameshift 2/20 - 1
17-78078611-A-G c.226A>G p.R76G Missense 2/20 - 6
17-78078611-AGA-CAT c.226_228delinsCAT p.R76H Missense 2/20 - 4
17-78078611-AGA-TGG c.226_228delinsTGG p.R76W Missense 2/20 - 3
17-78078611-AGA-TGT c.226_228delinsTGT p.R76C Missense 2/20 - 3
17-78078611-AG-CA c.226_227delinsCA p.R76Q Missense 2/20 - 5
17-78078611-AG-CC c.226_227delinsCC p.R76P Missense 2/20 - 1
17-78078611-AG-CT c.226_227inv p.R76L Missense 2/20 - 2
17-78078611-AG-GC c.226_227delinsGC p.R76A Missense 2/20 - 1
17-78078611-AG-GT c.226_227delinsGT p.R76V Missense 2/20 - 1
17-78078611-A-T c.226A>T p.R76* Nonsense 2/20 - 3
17-78078611-CA-C c.226del p.R76Efs*66 Frameshift 2/20 - 2
17-78078611-A-AG c.227dup p.A77Sfs*19 Frameshift 2/20 - 1
17-78078612-G-A c.227G>A p.R76K Missense 2/20 - 8
17-78078612-GA-AC c.227_228delinsAC p.R76N Missense 2/20 - 1
17-78078612-G-C c.227G>C p.R76T Missense 2/20 - 2
17-78078612-G-T c.227G>T p.R76I Missense 2/20 - 1
17-78078610-CAG-C c.228_229del p.R76Sfs*19 Frameshift 2/20 - 1
17-78078611-A-C c.226A>C p.R76= Synonymous 2/20 - 2
17-78078612-G-GA c.228dup p.A77Sfs*19 Frameshift 2/20 - 1
17-78078613-A-C c.228A>C p.R76S Missense 2/20 - 1
17-78078613-A-G c.228A>G p.R76= Synonymous 2/20 - 3
17-78078613-A-T c.228A>T p.R76S Missense 2/20 - 2
17-78078613-GA-G c.228del p.A77Qfs*65 Frameshift 2/20 - 1
17-78078614-AG-A c.229del p.A77Qfs*65 Frameshift 2/20 - 1
17-78078614-G-A c.229G>A p.A77T Missense 2/20 - 7
17-78078614-G-C c.229G>C p.A77P Missense 2/20 - 2
17-78078614-GCA-TGT c.229_231delinsTGT p.A77C Missense 2/20 - 1
17-78078614-GCA-TTT c.229_231delinsTTT p.A77F Missense 2/20 - 1
17-78078614-G-T c.229G>T p.A77S Missense 2/20 - 3
17-78078614-G-GC c.230dup p.V78Sfs*18 Frameshift 2/20 - 1
17-78078615-C-A c.230C>A p.A77E Missense 2/20 - 4
17-78078615-CA-AC c.230_231delinsAC p.A77D Missense 2/20 - 1
17-78078615-C-CCG c.230_231insCG p.V78Efs*65 Frameshift 2/20 - 1
17-78078615-C-G c.230C>G p.A77G Missense 2/20 - 3
17-78078615-C-T c.230C>T p.A77V Missense 2/20 - 3
17-78078615-GC-G c.230del p.A77Efs*65 Frameshift 2/20 - 1
17-78078614-GCAGTGCCCACACAGTGCGACGT-G c.231_252del p.V78Pfs*57 Frameshift 2/20 - 1
17-78078616-A-C c.231A>C p.A77= Synonymous 2/20 - 6
17-78078616-A-G c.231A>G p.A77= Synonymous 2/20 - 6
17-78078616-A-T c.231A>T p.A77= Synonymous 2/20 - 6
17-78078616-A-AG c.232dup p.V78Gfs*18 Frameshift 2/20 - 1
17-78078617-G-A c.232G>A p.V78M Missense 2/20 - 6
17-78078617-G-T c.232G>T p.V78L Missense 2/20 - 1
17-78078617-GT-AC c.232_233inv p.V78T Missense 2/20 - 1
17-78078617-GTG-ATC c.232_234delinsATC p.V78I Missense 2/20 - 1
17-78078617-GTG-TTT c.232_234delinsTTT p.V78F Missense 2/20 - 1
17-78078617-G-GT c.233dup p.P79Afs*17 Frameshift 2/20 - 1
17-78078617-G-GTA c.233_234insAT p.P79Cfs*64 Frameshift 2/20 - 1
17-78078618-GT-G c.233del p.V78Gfs*64 Frameshift 2/20 - 3
17-78078618-T-A c.233T>A p.V78E Missense 2/20 - 2
17-78078618-T-C c.233T>C p.V78A Missense 2/20 - 3
17-78078618-T-G c.233T>G p.V78G Missense 2/20 - 1
17-78078618-T-TG c.234dup p.P79Afs*17 Frameshift 2/20 - 1
17-78078619-G-A c.234G>A p.V78= Synonymous 2/20 - 3
17-78078619-G-C c.234G>C p.V78= Synonymous 2/20 - 3
17-78078619-G-T c.234G>T p.V78= Synonymous 2/20 - 2
17-78078620-C-A c.235C>A p.P79T Missense 2/20 - 2
17-78078620-C-T c.235C>T p.P79S Missense 2/20 - 5
17-78078614-GCAGTGCCCACA-G c.236_246del p.P79Rfs*13 Frameshift 2/20 - 12
17-78078619-GCCCACACAGTGCGACGTCCCCCCCAACAGC-G c.236_265del p.P79_S88del InFrameDeletion 2/20 - 1
17-78078619-GCCCACA-G c.236_241del p.P79_T80del InFrameDeletion 2/20 - 1
17-78078621-CC-AA c.236_237delinsAA p.P79Q Missense 2/20 - 1
17-78078621-C-G c.236C>G p.P79R Missense 2/20 - 4
17-78078621-C-T c.236C>T p.P79L Missense 2/20 - 3
17-78078619-GC-G c.237del p.T80Hfs*62 Frameshift 2/20 - 3
17-78078619-G-GC c.237dup p.T80Hfs*16 Frameshift 2/20 - 1
17-78078621-C-CCGAAGTTGTT c.237_238insGAAGTTGTTC p.T80Efs*19 Frameshift 2/20 - 1
17-78078622-C-A c.237C>A p.P79= Synonymous 2/20 - 5
17-78078622-C-G c.237C>G p.P79= Synonymous 2/20 - 2
17-78078622-C-T c.237C>T p.P79= Synonymous 2/20 - 6
17-78078622-C-CA c.238dup p.T80Nfs*16 Frameshift 2/20 - 1
17-78078623-A-C c.238A>C p.T80P Missense 2/20 - 4
17-78078623-AC-TA c.238_239delinsTA p.T80* Nonsense 2/20 - 1
17-78078623-A-G c.238A>G p.T80A Missense 2/20 - 7
17-78078623-A-T c.238A>T p.T80S Missense 2/20 - 1
17-78078623-CACACAGTG-C c.238_245del p.T80Rfs*13 Frameshift 2/20 - 1
17-78078624-ACACAGT-A c.239_244del p.T80_C82delinsS MultiAAMissense 2/20 - 1
17-78078624-ACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACC-A c.241_299del p.Q81Gfs*45 MultiAAMissense 2/20 - 1
17-78078624-C-A c.239C>A p.T80K Missense 2/20 - 2
17-78078624-CA-AC c.239_240delinsAC p.T80N Missense 2/20 - 2
17-78078624-CA-TG c.239_240inv p.T80M Missense 2/20 - 1
17-78078624-C-G c.239C>G p.T80R Missense 2/20 - 3
17-78078624-C-T c.239C>T p.T80I Missense 2/20 - 5
17-78078622-CACACAGTGCG-C c.240_249del p.Q81Sfs*58 Frameshift 2/20 - 1
17-78078623-ACACAGTGCGACGTCC-A c.240_254del p.Q81_P85del InFrameDeletion 2/20 - 1
17-78078624-C-CA c.240dup p.Q81Tfs*15 Frameshift 2/20 - 2
17-78078624-C-CAGA c.240_241insGAA p.T80_Q81insE InFrameInsertion 2/20 - 1
17-78078625-A-C c.240A>C p.T80= Synonymous 2/20 - 4
17-78078625-A-G c.240A>G p.T80= Synonymous 2/20 - 4
17-78078625-A-T c.240A>T p.T80= Synonymous 2/20 - 6
17-78078625-CA-C c.240del p.Q81Sfs*61 Frameshift 2/20 - 1
17-78078625-A-AC c.241dup p.Q81Pfs*15 Frameshift 2/20 - 1
17-78078626-ACAGTGC-A c.241_246del p.Q81_C82del InFrameDeletion 2/20 - 1
17-78078626-CAG-AAC c.241_243delinsAAC p.Q81N Missense 2/20 - 1
17-78078626-CA-GC c.241_242delinsGC p.Q81A Missense 2/20 - 1
17-78078626-C-G c.241C>G p.Q81E Missense 2/20 - 1
17-78078626-C-T c.241C>T p.Q81* Nonsense 2/20 - 13
17-78078626-C-CA c.242dup p.C82Vfs*14 Frameshift 2/20 - 1
17-78078627-A-AT c.242_243insT p.Q81Hfs*15 Frameshift 2/20 - 1
17-78078627-A-C c.242A>C p.Q81P Missense 2/20 - 4
17-78078627-A-G c.242A>G p.Q81R Missense 2/20 - 7
17-78078627-A-T c.242A>T p.Q81L Missense 2/20 - 2
17-78078627-CA-C c.242del p.Q81Rfs*61 Frameshift 2/20 - 1
17-78078627-A-AG c.243dup p.C82Vfs*14 Frameshift 2/20 - 1
17-78078627-A-AGAAGAAGAAG c.243_244insAAGAAGAAGG p.C82Kfs*17 Frameshift 2/20 - 1
17-78078628-AGTG-A c.243_245del p.Q81_C82delinsH MultiAAMissense 2/20 - 1
17-78078628-G-A c.243G>A p.Q81= Synonymous 2/20 - 5
17-78078628-G-C c.243G>C p.Q81H Missense 2/20 - 3
17-78078628-G-T c.243G>T p.Q81H Missense 2/20 - 1
17-78078627-AGT-A c.244_245del p.C82Rfs*13 Frameshift 2/20 - 1
17-78078629-GT-G c.244del p.C82Afs*60 Frameshift 2/20 - 1
17-78078629-T-A c.244T>A p.C82S Missense 2/20 - 4
17-78078629-T-C c.244T>C p.C82R Missense 2/20 - 6
17-78078629-T-G c.244T>G p.C82G Missense 2/20 - 1
17-78078629-TG-GA c.244_245delinsGA p.C82D Missense 2/20 - 1
17-78078629-T-TGTCCTGAAGAGTGAAC c.245_246insTCCTGAAGAGTGAACG p.D83Pfs*4 Frameshift 2/20 - 1
17-78078630-G-A c.245G>A p.C82Y Missense 2/20 - 6
17-78078630-G-T c.245G>T p.C82F Missense 2/20 - 2
17-78078630-TGCGACGTC-T c.245_252del p.C82Sfs*11 Frameshift 2/20 - 1
17-78078630-G-GC c.246dup p.D83Rfs*13 Frameshift 2/20 - 1
17-78078631-C-CT c.246_247insT p.D83* Nonsense 2/20 - 1
17-78078631-C-T c.246C>T p.C82= Synonymous 2/20 - 7
17-78078631-GC-G c.246del p.C82Wfs*60 Frameshift 2/20 - 1
17-78078630-GCGACGTCC-G c.247_254del p.D83Pfs*10 Frameshift 2/20 - 1
17-78078631-C-CG c.247dup p.D83Gfs*13 Frameshift 2/20 - 1
17-78078632-CG-C c.247del p.D83Tfs*59 Frameshift 2/20 - 1
17-78078632-G-A c.247G>A p.D83N Missense 2/20 - 11
17-78078632-G-C c.247G>C p.D83H Missense 2/20 - 2
17-78078632-G-T c.247G>T p.D83Y Missense 2/20 - 1
17-78078632-G-GA c.248dup p.D83Efs*13 Frameshift 2/20 - 1
17-78078633-A-C c.248A>C p.D83A Missense 2/20 - 4
17-78078633-A-G c.248A>G p.D83G Missense 2/20 - 2
17-78078633-A-T c.248A>T p.D83V Missense 2/20 - 3
17-78078634-C-A c.249C>A p.D83E Missense 2/20 - 5
17-78078634-C-G c.249C>G p.D83E Missense 2/20 - 3
17-78078634-C-T c.249C>T p.D83= Synonymous 2/20 - 4
17-78078634-C-CG c.250dup p.V84Gfs*12 Frameshift 2/20 - 1
17-78078635-G-A c.250G>A p.V84I Missense 2/20 - 8
17-78078635-G-C c.250G>C p.V84L Missense 2/20 - 5
17-78078635-G-T c.250G>T p.V84F Missense 2/20 - 1
17-78078635-GT-AC c.250_251inv p.V84T Missense 2/20 - 1
17-78078635-GTC-ATG c.250_252delinsATG p.V84M Missense 2/20 - 3
17-78078635-GTC-TAA c.250_252delinsTAA p.V84* Nonsense 2/20 - 1
17-78078635-G-GT c.251dup p.N87Qfs*9 Frameshift 2/20 - 1
17-78078636-GT-G c.251del p.V84Afs*58 Frameshift 2/20 - 1
17-78078636-T-A c.251T>A p.V84D Missense 2/20 - 2
17-78078636-T-C c.251T>C p.V84A Missense 2/20 - 9
17-78078636-TC-AG c.251_252delinsAG p.V84E Missense 2/20 - 1
17-78078636-T-G c.251T>G p.V84G Missense 2/20 - 5
17-78078637-C-A c.252C>A p.V84= Synonymous 2/20 - 5
17-78078637-C-CTT c.252_253insTT p.P85Ffs*58 Frameshift 2/20 - 1
17-78078637-C-G c.252C>G p.V84= Synonymous 2/20 - 2
17-78078637-C-T c.252C>T p.V84= Synonymous 2/20 - 4
17-78078638-C-A c.253C>A p.P85T Missense 2/20 - 5
17-78078638-CC-AA c.253_254delinsAA p.P85N Missense 2/20 - 1
17-78078638-CC-AT c.253_254delinsAT p.P85I Missense 2/20 - 1
17-78078638-CCC-AAG c.253_255delinsAAG p.P85K Missense 2/20 - 1
17-78078638-CCC-ATG c.253_255delinsATG p.P85M Missense 2/20 - 2
17-78078638-CCCCCCAACAGCC-GTG c.253_265delinsGTG p.P85Vfs*54 Frameshift 2/20 - 1
17-78078638-CCC-GAG c.253_255delinsGAG p.P85E Missense 2/20 - 2
17-78078638-CCC-TAA c.253_255delinsTAA p.P85* Nonsense 2/20 - 1
17-78078638-CCC-TGG c.253_255delinsTGG p.P85W Missense 2/20 - 1
17-78078638-CC-GA c.253_254delinsGA p.P85D Missense 2/20 - 1
17-78078638-CC-GG c.253_254inv p.P85G Missense 2/20 - 1
17-78078638-CC-GT c.253_254delinsGT p.P85V Missense 2/20 - 2
17-78078638-CC-TA c.253_254delinsTA p.P85Y Missense 2/20 - 1
17-78078638-CC-TG c.253_254delinsTG p.P85C Missense 2/20 - 1
17-78078638-CC-TT c.253_254delinsTT p.P85F Missense 2/20 - 1
17-78078638-C-G c.253C>G p.P85A Missense 2/20 - 5
17-78078638-C-T c.253C>T p.P85S Missense 2/20 - 11
17-78078637-CCCCCCCAACAGCCG-C c.254_267del p.P85Lfs*6 Frameshift 2/20 - 1
17-78078637-CCCCCCCAACAGCCGCTT-C c.254_270del p.P85Rfs*5 Frameshift 2/20 - 1
17-78078639-C-A c.254C>A p.P85H Missense 2/20 - 4
17-78078639-CC-AA c.254_255delinsAA p.P85Q Missense 2/20 - 1
17-78078639-C-G c.254C>G p.P85R Missense 2/20 - 5
17-78078639-C-T c.254C>T p.P85L Missense 2/20 - 5
17-78078636-TCCCC-T c.255_258del p.P86Tfs*55 Frameshift 2/20 - 1
17-78078640-C-A c.255C>A p.P85= Synonymous 2/20 - 5
17-78078640-C-G c.255C>G p.P85= Synonymous 2/20 - 5
17-78078640-C-T c.255C>T p.P85= Synonymous 2/20 - 7
17-78078636-TCCC-T c.256_258del p.P86del InFrameDeletion 2/20 - 2
17-78078641-C-A c.256C>A p.P86T Missense 2/20 - 3
17-78078641-CCCCAACAGCCGCT-C c.256_268del p.P86Sfs*52 Frameshift 2/20 - 1
17-78078641-CCC-TAA c.256_258delinsTAA p.P86* Nonsense 2/20 - 1
17-78078641-CC-TT c.256_257delinsTT p.P86F Missense 2/20 - 1
17-78078641-C-G c.256C>G p.P86A Missense 2/20 - 3
17-78078641-C-T c.256C>T p.P86S Missense 2/20 - 5
17-78078642-C-AAAG c.257delinsAAAG p.P86delinsQS MultiAAMissense 2/20 - 1
17-78078636-TCC-T c.257_258del p.P86Qfs*9 Frameshift 2/20 - 2
17-78078642-C-A c.257C>A p.P86H Missense 2/20 - 2
17-78078642-CCCAACAGCCGCTTCGA-C c.257_272del p.P86Lfs*51 Frameshift 2/20 - 1
17-78078642-CCCAACAGCCGCTTCG-C c.257_271del p.P86_D91delinsH MultiAAMissense 2/20 - 1
17-78078642-C-CGA c.257_258insGA p.N87Tfs*56 Frameshift 2/20 - 1
17-78078642-C-G c.257C>G p.P86R Missense 2/20 - 9
17-78078642-C-T c.257C>T p.P86L Missense 2/20 - 5
17-78078636-TC-T c.258del p.N87Tfs*55 Frameshift 2/20 - 8
17-78078636-T-TC c.258dup p.N87Qfs*9 Frameshift 2/20 - 19
17-78078640-CCCCAACAG-C c.258_265del p.N87Lfs*6 Frameshift 2/20 - 1
17-78078642-C-CCCCAGAG c.258_259insCCAGAGC p.N87Pfs*11 Frameshift 2/20 - 1
17-78078643-C-A c.258C>A p.P86= Synonymous 2/20 - 6
17-78078643-C-CT c.258_259insT p.N87* Nonsense 2/20 - 1
17-78078643-C-G c.258C>G p.P86= Synonymous 2/20 - 3
17-78078643-C-T c.258C>T p.P86= Synonymous 2/20 - 6
17-78078644-A-AC c.259_260insC p.N87Tfs*9 Frameshift 2/20 - 1
17-78078644-A-ACCGGCGGCTTCGGAGCTGGTTTCGGCGCTGGTGCCTTTGGTG c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCGCTGGTGCCTTTGGTG p.N87delinsTGGFGAGFGAGAFGD MultiAAMissense 2/20 - 1
17-78078644-AAC-TAA c.259_261delinsTAA p.N87* Nonsense 2/20 - 1
17-78078644-AA-GC c.259_260delinsGC p.N87A Missense 2/20 - 1
17-78078644-A-C c.259A>C p.N87H Missense 2/20 - 3
17-78078644-A-G c.259A>G p.N87D Missense 2/20 - 2
17-78078644-A-T c.259A>T p.N87Y Missense 2/20 - 2
17-78078643-CA-C c.260del p.N87Tfs*55 Frameshift 2/20 - 5
17-78078643-C-CA c.260dup p.N87Kfs*9 Frameshift 2/20 - 3
17-78078645-AACAGCCGC-A c.260_267del p.N87Ifs*6 Frameshift 2/20 - 1
17-78078645-A-C c.260A>C p.N87T Missense 2/20 - 2
17-78078645-A-G c.260A>G p.N87S Missense 2/20 - 6
17-78078645-A-T c.260A>T p.N87I Missense 2/20 - 2
17-78078645-A-AC c.261dup p.S88Qfs*8 Frameshift 2/20 - 1
17-78078645-A-ACCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG c.261_262insCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTGC p.N87_S88insRRLRSWFRHWWLWC InFrameInsertion 2/20 - 1
17-78078646-AC-A c.261del p.N87Kfs*55 Frameshift 2/20 - 1
17-78078646-ACAGCCGCTTC-A c.261_270del p.N87Kfs*52 Frameshift 2/20 - 1
17-78078646-C-A c.261C>A p.N87K Missense 2/20 - 1
17-78078646-C-CT c.261_262insT p.S88* Nonsense 2/20 - 2
17-78078646-C-G c.261C>G p.N87K Missense 2/20 - 1
17-78078646-C-T c.261C>T p.N87= Synonymous 2/20 - 5
17-78078645-ACAG-A c.262_264del p.S88del InFrameDeletion 2/20 - 1
17-78078645-ACAGC-A c.262_265del p.S88Afs*53 Frameshift 2/20 - 1
17-78078645-ACAGCCGCTTCGATTG-A c.262_276del p.S88_C92del InFrameDeletion 2/20 - 1
17-78078645-ACAGCCGCTTCGATTGCGCCC-A c.262_281del p.S88* Frameshift 2/20 - 1
17-78078647-A-G c.262A>G p.S88G Missense 2/20 - 4
17-78078647-AG-CA c.262_263delinsCA p.S88H Missense 2/20 - 1
17-78078647-AG-CC c.262_263delinsCC p.S88P Missense 2/20 - 1
17-78078647-AG-CT c.262_263inv p.S88L Missense 2/20 - 1
17-78078647-AG-GC c.262_263delinsGC p.S88A Missense 2/20 - 4
17-78078647-AG-TT c.262_263delinsTT p.S88F Missense 2/20 - 2
17-78078647-A-T c.262A>T p.S88C Missense 2/20 - 1
17-78078647-CA-C c.262del p.S88Afs*54 Frameshift 2/20 - 1
17-78078648-AG-A c.263del p.S88Tfs*54 Frameshift 2/20 - 3
17-78078648-G-A c.263G>A p.S88N Missense 2/20 - 3
17-78078648-G-C c.263G>C p.S88T Missense 2/20 - 1
17-78078648-G-T c.263G>T p.S88I Missense 2/20 - 3
17-78078649-C-A c.264C>A p.S88R Missense 2/20 - 2
17-78078649-C-CA c.264_265insA p.R89Tfs*7 Frameshift 2/20 - 1
17-78078649-C-G c.264C>G p.S88R Missense 2/20 - 2
17-78078649-C-T c.264C>T p.S88= Synonymous 2/20 - 6
17-78078649-GCC-G c.264_265del p.S88Rfs*7 Frameshift 2/20 - 1
17-78078647-AGCC-A c.265_267del p.R89del InFrameDeletion 2/20 - 1
17-78078648-GC-G c.265del p.R89Afs*53 Frameshift 2/20 - 1
17-78078648-G-GC c.265dup p.R89Pfs*7 Frameshift 2/20 - 3
17-78078650-C-A c.265C>A p.R89S Missense 2/20 - 2
17-78078650-CCGCTTCGAT-C c.265_273del p.R89_D91del InFrameDeletion 2/20 - 1
17-78078650-C-G c.265C>G p.R89G Missense 2/20 - 5
17-78078650-CGC-AAG c.265_267delinsAAG p.R89K Missense 2/20 - 1
17-78078650-CGC-TGA c.265_267delinsTGA p.R89* Nonsense 2/20 - 1
17-78078650-CGC-TGG c.265_267delinsTGG p.R89W Missense 2/20 - 5
17-78078650-CG-TT c.265_266delinsTT p.R89F Missense 2/20 - 1
17-78078650-C-T c.265C>T p.R89C Missense 2/20 - 14
17-78078650-C-CG c.266dup p.F90Lfs*6 Frameshift 2/20 - 1
17-78078651-CG-C c.266del p.R89Pfs*53 Frameshift 2/20 - 2
17-78078651-G-A c.266G>A p.R89H Missense 2/20 - 19
17-78078651-G-C c.266G>C p.R89P Missense 2/20 - 3
17-78078651-GC-AA c.266_267delinsAA p.R89Q Missense 2/20 - 3
17-78078651-G-GTT c.266_267insTT p.F90Sfs*53 Frameshift 2/20 - 1
17-78078651-G-T c.266G>T p.R89L Missense 2/20 - 6
17-78078651-G-GC c.267dup p.F90Lfs*6 Frameshift 2/20 - 1
17-78078652-C-A c.267C>A p.R89= Synonymous 2/20 - 4
17-78078652-C-G c.267C>G p.R89= Synonymous 2/20 - 2
17-78078652-C-T c.267C>T p.R89= Synonymous 2/20 - 4
17-78078652-GC-G c.267del p.F90Sfs*52 Frameshift 2/20 - 1
17-78078653-CTT-C c.268_269del p.F90Rfs*5 Frameshift 2/20 - 1
17-78078653-T-A c.268T>A p.F90I Missense 2/20 - 1
17-78078653-T-C c.268T>C p.F90L Missense 2/20 - 2
17-78078653-T-G c.268T>G p.F90V Missense 2/20 - 1
17-78078653-TT-CG c.268_269delinsCG p.F90R Missense 2/20 - 1
17-78078655-C-A c.270C>A p.F90L Missense 2/20 - 2
17-78078655-C-G c.270C>G p.F90L Missense 2/20 - 2
17-78078652-CT-C c.269del p.F90Sfs*52 Frameshift 2/20 - 2
17-78078654-T-A c.269T>A p.F90Y Missense 2/20 - 2
17-78078654-T-C c.269T>C p.F90S Missense 2/20 - 3
17-78078654-TC-AA c.269_270delinsAA p.F90* Nonsense 2/20 - 1
17-78078654-T-G c.269T>G p.F90C Missense 2/20 - 1
17-78078654-TTC-T c.269_270del p.F90* Frameshift 2/20 - 1
17-78078654-T-TC c.270dup p.D91Rfs*5 Frameshift 2/20 - 1
17-78078655-C-T c.270C>T p.F90= Synonymous 2/20 - 7
17-78078655-TC-T c.270del p.F90Lfs*52 Frameshift 2/20 - 1
17-78078656-CGA-C c.271_272del p.D91Lfs*4 Frameshift 2/20 - 1
17-78078656-CGAT-C c.271_273del p.D91del InFrameDeletion 2/20 - 1
17-78078656-CG-C c.271del p.D91Ifs*51 Frameshift 2/20 - 1
17-78078656-G-A c.271G>A p.D91N Missense 2/20 - 35
17-78078656-GA-TT c.271_272delinsTT p.D91F Missense 2/20 - 2
17-78078656-G-C c.271G>C p.D91H Missense 2/20 - 3
17-78078656-G-T c.271G>T p.D91Y Missense 2/20 - 8
17-78078657-A-C c.272A>C p.D91A Missense 2/20 - 3
17-78078657-A-G c.272A>G p.D91G Missense 2/20 - 4
17-78078657-A-T c.272A>T p.D91V Missense 2/20 - 4
17-78078657-GA-G c.272del p.D91Vfs*51 Frameshift 2/20 - 1
17-78078658-T-A c.273T>A p.D91E Missense 2/20 - 5
17-78078658-T-C c.273T>C p.D91= Synonymous 2/20 - 5
17-78078658-T-G c.273T>G p.D91E Missense 2/20 - 6
17-78078657-A-AT c.274dup p.C92Lfs*4 Frameshift 2/20 - 1
17-78078657-AT-A c.274del p.C92Afs*50 Frameshift 2/20 - 2
17-78078658-T-TTC c.274_275insCT p.C92Sfs*51 Frameshift 2/20 - 1
17-78078659-T-C c.274T>C p.C92R Missense 2/20 - 2
17-78078659-T-G c.274T>G p.C92G Missense 2/20 - 1
17-78078659-TG-AC c.274_275delinsAC p.C92T Missense 2/20 - 1
17-78078659-T-TG c.275dup p.C92Wfs*4 Frameshift 2/20 - 1
17-78078659-T-TGTCCTGAAGAGTGAAC c.275_276insTCCTGAAGAGTGAACG p.A93Pfs*4 Frameshift 2/20 - 1
17-78078660-G-A c.275G>A p.C92Y Missense 2/20 - 2
17-78078660-G-GTTC c.275_276insTTC p.C92_A93insS InFrameInsertion 2/20 - 1
17-78078660-G-T c.275G>T p.C92F Missense 2/20 - 1
17-78078660-G-GC c.276dup p.A93Rfs*3 Frameshift 2/20 - 1
17-78078661-C-A c.276C>A p.C92* Nonsense 2/20 - 3
17-78078661-C-CAAT c.276_277insAAT p.C92_A93insN InFrameInsertion 2/20 - 1
17-78078661-C-G c.276C>G p.C92W Missense 2/20 - 3
17-78078661-C-T c.276C>T p.C92= Synonymous 2/20 - 5
17-78078661-GC-G c.276del p.C92Wfs*50 Frameshift 2/20 - 1
17-78078659-TGC-T c.277_278del p.A93Pfs*2 Frameshift 2/20 - 1
17-78078660-GCGCCCCTGA-G c.277_285del p.A93_D95del InFrameDeletion 2/20 - 1
17-78078661-C-CG c.277dup p.A93Gfs*3 Frameshift 2/20 - 1
17-78078662-G-A c.277G>A p.A93T Missense 2/20 - 8
17-78078662-G-C c.277G>C p.A93P Missense 2/20 - 1
17-78078662-GCC-TAA c.277_279delinsTAA p.A93* Nonsense 2/20 - 2
17-78078662-GC-TG c.277_278delinsTG p.A93C Missense 2/20 - 1
17-78078662-G-T c.277G>T p.A93S Missense 2/20 - 2
17-78078663-C-A c.278C>A p.A93D Missense 2/20 - 1
17-78078663-C-CT c.278_279insT p.D95* Nonsense 2/20 - 1
17-78078663-C-G c.278C>G p.A93G Missense 2/20 - 3
17-78078663-C-T c.278C>T p.A93V Missense 2/20 - 6
17-78078664-C-A c.279C>A p.A93= Synonymous 2/20 - 4
17-78078664-C-G c.279C>G p.A93= Synonymous 2/20 - 2
17-78078664-C-T c.279C>T p.A93= Synonymous 2/20 - 6
17-78078664-C-CCTGCAACAGCAATCTACTCAAACTGGTATGCAAGCACAATTGCAACAACCT c.280_281insTGCAACAGCAATCTACTCAAACTGGTATGCAAGCACAATTGCAACAACCTC p.A93_P94insLQQQSTQTGMQAQLQQP InFrameInsertion 2/20 - 1
17-78078665-C-A c.280C>A p.P94T Missense 2/20 - 2
17-78078665-CC-AA c.280_281delinsAA p.P94N Missense 2/20 - 1
17-78078665-CC-AT c.280_281delinsAT p.P94I Missense 2/20 - 1
17-78078665-CC-GA c.280_281delinsGA p.P94D Missense 2/20 - 1
17-78078665-CC-GG c.280_281inv p.P94G Missense 2/20 - 1
17-78078665-CC-GT c.280_281delinsGT p.P94V Missense 2/20 - 1
17-78078665-CC-TA c.280_281delinsTA p.P94Y Missense 2/20 - 1
17-78078665-CCT-AAG c.280_282delinsAAG p.P94K Missense 2/20 - 1
17-78078665-CCT-ATG c.280_282delinsATG p.P94M Missense 2/20 - 1
17-78078665-CCT-GAG c.280_282delinsGAG p.P94E Missense 2/20 - 1
17-78078665-CC-TT c.280_281delinsTT p.P94F Missense 2/20 - 1
17-78078665-CCT-TGG c.280_282delinsTGG p.P94W Missense 2/20 - 1
17-78078665-C-G c.280C>G p.P94A Missense 2/20 - 5
17-78078665-C-T c.280C>T p.P94S Missense 2/20 - 6
17-78078662-GC-G c.281del p.P94Lfs*48 Frameshift 2/20 - 1
17-78078662-G-GC c.281dup p.D95* Nonsense 2/20 - 1
17-78078665-C-CCATATATA c.281_282insATATATAC p.D95Yfs*50 Frameshift 2/20 - 1
17-78078666-C-A c.281C>A p.P94H Missense 2/20 - 3
17-78078666-CCT-C c.281_282del p.P94Rfs*51 Frameshift 2/20 - 4
17-78078666-C-G c.281C>G p.P94R Missense 2/20 - 3
17-78078666-C-T c.281C>T p.P94L Missense 2/20 - 5
17-78078666-CT-AA c.281_282delinsAA p.P94Q Missense 2/20 - 3
17-78078665-C-CCTATATGTGTTCACATCACTTATAACTTACAGATCATCTGATATATA c.282_283insATATGTGTTCACATCACTTATAACTTACAGATCATCTGATATATACT p.D95Ifs*13 Frameshift 2/20 - 1
17-78078666-C-CT c.282dup p.D95* Nonsense 2/20 - 4
17-78078666-C-CTT c.282_283insTT p.D95Lfs*48 Frameshift 2/20 - 1
17-78078666-C-CTTCTGA c.282_283insTCTGAT p.P94_D95insSD InFrameInsertion 2/20 - 1
17-78078667-CT-C c.282del p.D95Tfs*47 Frameshift 2/20 - 1
17-78078667-CTGACAAGGCCATCACCCAGGA-C c.282_302del p.D95_E101del InFrameDeletion 2/20 - 1
17-78078667-T-A c.282T>A p.P94= Synonymous 2/20 - 3
17-78078667-T-C c.282T>C p.P94= Synonymous 2/20 - 4
17-78078667-T-G c.282T>G p.P94= Synonymous 2/20 - 2
17-78078667-T-TG c.283dup p.D95Gfs*51 Frameshift 2/20 - 1
17-78078668-G-A c.283G>A p.D95N Missense 2/20 - 7
17-78078668-G-T c.283G>T p.D95Y Missense 2/20 - 2
17-78078669-A-AT c.284_285insT p.K96Qfs*50 Frameshift 2/20 - 1
17-78078669-A-C c.284A>C p.D95A Missense 2/20 - 3
17-78078669-A-G c.284A>G p.D95G Missense 2/20 - 5
17-78078669-A-T c.284A>T p.D95V Missense 2/20 - 2
17-78078669-GA-G c.284del p.D95Afs*47 Frameshift 2/20 - 1
17-78078669-A-AC c.285dup p.K96Qfs*50 Frameshift 2/20 - 1
17-78078670-AC-A c.285del p.D95Efs*47 Frameshift 2/20 - 2
17-78078670-ACAAGGCCATCACCCAGGAACAGTGC-A c.285_309del p.D95Efs*39 Frameshift 2/20 - 1
17-78078670-C-A c.285C>A p.D95E Missense 2/20 - 4
17-78078670-C-CT c.285_286insT p.K96* Nonsense 2/20 - 3
17-78078670-C-G c.285C>G p.D95E Missense 2/20 - 5
17-78078670-C-T c.285C>T p.D95= Synonymous 2/20 - 5
17-78078671-A-C c.286A>C p.K96Q Missense 2/20 - 2
17-78078671-A-G c.286A>G p.K96E Missense 2/20 - 3
17-78078671-A-T c.286A>T p.K96* Nonsense 2/20 - 2
17-78078670-CA-C c.287del p.K96Rfs*46 Frameshift 2/20 - 1
17-78078670-C-CA c.287dup p.A97Gfs*49 Frameshift 2/20 - 3
17-78078672-A-C c.287A>C p.K96T Missense 2/20 - 1
17-78078672-A-G c.287A>G p.K96R Missense 2/20 - 3
17-78078672-AG-TC c.287_288delinsTC p.K96I Missense 2/20 - 1
17-78078672-A-T c.287A>T p.K96M Missense 2/20 - 2
17-78078673-AGGCCAT-A c.288_293del p.K96_I98delinsN MultiAAMissense 2/20 - 1
17-78078673-G-A c.288G>A p.K96= Synonymous 2/20 - 5
17-78078673-G-C c.288G>C p.K96N Missense 2/20 - 2
17-78078673-G-GA c.288_289insA p.A97Sfs*49 Frameshift 2/20 - 1
17-78078673-G-T c.288G>T p.K96N Missense 2/20 - 4
17-78078672-A-AG c.289dup p.A97Gfs*49 Frameshift 2/20 - 1
17-78078672-AG-A c.289del p.A97Pfs*45 Frameshift 2/20 - 1
17-78078674-G-A c.289G>A p.A97T Missense 2/20 - 8
17-78078674-G-C c.289G>C p.A97P Missense 2/20 - 1
17-78078674-GC-AT c.289_290delinsAT p.A97I Missense 2/20 - 1
17-78078674-GC-CA c.289_290delinsCA p.A97H Missense 2/20 - 1
17-78078674-GCC-ATG c.289_291delinsATG p.A97M Missense 2/20 - 1
17-78078674-G-T c.289G>T p.A97S Missense 2/20 - 2
17-78078675-C-A c.290C>A p.A97D Missense 2/20 - 1
17-78078675-CC-AG c.290_291delinsAG p.A97E Missense 2/20 - 1
17-78078675-C-G c.290C>G p.A97G Missense 2/20 - 2
17-78078675-C-T c.290C>T p.A97V Missense 2/20 - 6
17-78078674-GC-G c.291del p.I98Sfs*44 Frameshift 2/20 - 1
17-78078674-G-GC c.291dup p.I98Hfs*48 Frameshift 2/20 - 1
17-78078676-C-A c.291C>A p.A97= Synonymous 2/20 - 5
17-78078676-C-G c.291C>G p.A97= Synonymous 2/20 - 5
17-78078676-C-T c.291C>T p.A97= Synonymous 2/20 - 10
17-78078676-C-CA c.292dup p.I98Nfs*48 Frameshift 2/20 - 1
17-78078677-A-G c.292A>G p.I98V Missense 2/20 - 4
17-78078677-A-T c.292A>T p.I98F Missense 2/20 - 1
17-78078677-CA-C c.292del p.I98Sfs*44 Frameshift 2/20 - 1
17-78078677-A-AT c.293dup p.T99Hfs*47 Frameshift 2/20 - 2
17-78078678-AT-A c.293del p.I98Tfs*44 Frameshift 2/20 - 1
17-78078678-T-C c.293T>C p.I98T Missense 2/20 - 8
17-78078678-T-G c.293T>G p.I98S Missense 2/20 - 2
17-78078678-T-TC c.294dup p.T99Hfs*47 Frameshift 2/20 - 2
17-78078678-T-TCCTCTACGAGA c.294_295insCTCTACGAGAC p.T99Lfs*47 Frameshift 2/20 - 1
17-78078679-C-A c.294C>A p.I98= Synonymous 2/20 - 2
17-78078679-C-CGAAGGAGAG c.294_295insGAAGGAGAG p.I98_T99insEGE InFrameInsertion 2/20 - 1
17-78078679-C-G c.294C>G p.I98M Missense 2/20 - 3
17-78078679-C-T c.294C>T p.I98= Synonymous 2/20 - 6
17-78078679-TC-T c.294del p.T99Pfs*43 Frameshift 2/20 - 1
17-78078678-TCACCCAGGAACAGTGCGAGG-T c.295_314del p.T99Pfs*40 Frameshift 2/20 - 2
17-78078680-A-C c.295A>C p.T99P Missense 2/20 - 3
17-78078680-AC-CA c.295_296delinsCA p.T99H Missense 2/20 - 1
17-78078680-ACC-CAA c.295_297delinsCAA p.T99Q Missense 2/20 - 1
17-78078680-ACC-GAG c.295_297delinsGAG p.T99E Missense 2/20 - 1
17-78078680-AC-CT c.295_296delinsCT p.T99L Missense 2/20 - 1
17-78078680-ACC-TGG c.295_297delinsTGG p.T99W Missense 2/20 - 1
17-78078680-AC-GA c.295_296delinsGA p.T99D Missense 2/20 - 1
17-78078680-AC-GG c.295_296delinsGG p.T99G Missense 2/20 - 1
17-78078680-AC-GT c.295_296inv p.T99V Missense 2/20 - 2
17-78078680-AC-TA c.295_296delinsTA p.T99Y Missense 2/20 - 1
17-78078680-AC-TG c.295_296delinsTG p.T99C Missense 2/20 - 1
17-78078680-AC-TT c.295_296delinsTT p.T99F Missense 2/20 - 1
17-78078680-A-G c.295A>G p.T99A Missense 2/20 - 5
17-78078680-CA-C c.295del p.T99Pfs*43 Frameshift 2/20 - 1
17-78078680-A-T c.295A>T p.T99S Missense 2/20 - 2
17-78078681-C-A c.296C>A p.T99N Missense 2/20 - 3
17-78078681-CC-AG c.296_297delinsAG p.T99K Missense 2/20 - 2
17-78078681-CC-GG c.296_297inv p.T99R Missense 2/20 - 2
17-78078681-CC-TG c.296_297delinsTG p.T99M Missense 2/20 - 3
17-78078681-C-G c.296C>G p.T99S Missense 2/20 - 3
17-78078681-C-T c.296C>T p.T99I Missense 2/20 - 9
17-78078680-ACC-A c.297_298del p.Q100Gfs*45 Frameshift 2/20 - 1
17-78078682-C-A c.297C>A p.T99= Synonymous 2/20 - 3
17-78078682-C-G c.297C>G p.T99= Synonymous 2/20 - 2
17-78078682-C-T c.297C>T p.T99= Synonymous 2/20 - 5
17-78078680-A-AC c.298dup p.Q100Pfs*46 Frameshift 2/20 - 3
17-78078682-C-CCGACTTTTTAAAGAA c.298_299insGACTTTTTAAAGAAC p.T99_Q100insRLFKE InFrameInsertion 2/20 - 1
17-78078683-C-A c.298C>A p.Q100K Missense 2/20 - 3
17-78078683-CA-AC c.298_299delinsAC p.Q100T Missense 2/20 - 1
17-78078683-CA-AT c.298_299delinsAT p.Q100M Missense 2/20 - 1
17-78078683-CAG-AAC c.298_300delinsAAC p.Q100N Missense 2/20 - 1
17-78078683-CAG-ATC c.298_300delinsATC p.Q100I Missense 2/20 - 1
17-78078683-CA-GC c.298_299delinsGC p.Q100A Missense 2/20 - 1
17-78078683-CA-GG c.298_299delinsGG p.Q100G Missense 2/20 - 1
17-78078683-CAG-GAC c.298_300delinsGAC p.Q100D Missense 2/20 - 1
17-78078683-CA-GT c.298_299delinsGT p.Q100V Missense 2/20 - 1
17-78078683-CAG-TAT c.298_300delinsTAT p.Q100Y Missense 2/20 - 1
17-78078683-CAG-TGT c.298_300delinsTGT p.Q100C Missense 2/20 - 1
17-78078683-CAG-TTT c.298_300delinsTTT p.Q100F Missense 2/20 - 1
17-78078683-CA-TC c.298_299delinsTC p.Q100S Missense 2/20 - 1
17-78078683-CA-TG c.298_299inv p.Q100W Missense 2/20 - 1
17-78078683-CCAG-C c.298_300del p.Q100del InFrameDeletion 2/20 - 1
17-78078683-C-CG c.298_299insG p.Q100Rfs*46 Frameshift 2/20 - 1
17-78078683-C-G c.298C>G p.Q100E Missense 2/20 - 4
17-78078683-C-T c.298C>T p.Q100* Nonsense 2/20 - 4
17-78078684-A-C c.299A>C p.Q100P Missense 2/20 - 2
17-78078684-A-G c.299A>G p.Q100R Missense 2/20 - 9
17-78078684-A-T c.299A>T p.Q100L Missense 2/20 - 1
17-78078684-CA-C c.299del p.Q100Rfs*42 Frameshift 2/20 - 1
17-78078683-CAGG-C c.300_302del p.E101del InFrameDeletion 2/20 - 1
17-78078685-G-A c.300G>A p.Q100= Synonymous 2/20 - 4
17-78078685-G-C c.300G>C p.Q100H Missense 2/20 - 3
17-78078685-G-T c.300G>T p.Q100H Missense 2/20 - 4
17-78078684-A-AGGTCAGCAGTGTT c.301_302insTCAGCAGTGTTGG p.E101Vfs*49 Frameshift 2/20 - 1
17-78078686-G-A c.301G>A p.E101K Missense 2/20 - 11
17-78078686-GAA-AAC c.301_303delinsAAC p.E101N Missense 2/20 - 2
17-78078686-GAA-ATG c.301_303delinsATG p.E101M Missense 2/20 - 2
17-78078686-GA-AC c.301_302delinsAC p.E101T Missense 2/20 - 1
17-78078686-GAA-CAT c.301_303delinsCAT p.E101H Missense 2/20 - 2
17-78078686-GA-AG c.301_302delinsAG p.E101R Missense 2/20 - 1
17-78078686-GA-AT c.301_302delinsAT p.E101I Missense 2/20 - 3
17-78078686-GAA-TAT c.301_303delinsTAT p.E101Y Missense 2/20 - 2
17-78078686-GAA-TGG c.301_303delinsTGG p.E101W Missense 2/20 - 2
17-78078686-GAA-TGT c.301_303delinsTGT p.E101C Missense 2/20 - 2
17-78078686-GAA-TTT c.301_303delinsTTT p.E101F Missense 2/20 - 1
17-78078686-GA-CC c.301_302delinsCC p.E101P Missense 2/20 - 1
17-78078686-GA-CT c.301_302delinsCT p.E101L Missense 2/20 - 2
17-78078686-GA-TC c.301_302inv p.E101S Missense 2/20 - 3
17-78078686-G-C c.301G>C p.E101Q Missense 2/20 - 6
17-78078686-G-T c.301G>T p.E101* Nonsense 2/20 - 6
17-78078685-GGAACAGTGCGAGGCCCGCGGCTGTT-G c.302_326del p.E101Afs*33 Frameshift 2/20 - 1
17-78078686-G-GAC c.302_303insCA p.E101Dfs*42 Frameshift 2/20 - 1
17-78078687-A-C c.302A>C p.E101A Missense 2/20 - 3
17-78078687-A-G c.302A>G p.E101G Missense 2/20 - 5
17-78078687-A-T c.302A>T p.E101V Missense 2/20 - 3
17-78078686-GA-G c.303del p.E101Dfs*41 Frameshift 2/20 - 1
17-78078686-G-GA c.303dup p.Q102Tfs*44 Frameshift 2/20 - 1
17-78078688-A-AG c.303_304insG p.Q102Afs*44 Frameshift 2/20 - 1
17-78078688-A-C c.303A>C p.E101D Missense 2/20 - 6
17-78078688-A-G c.303A>G p.E101= Synonymous 2/20 - 5
17-78078688-A-T c.303A>T p.E101D Missense 2/20 - 5
17-78078689-ACAG-A c.304_306del p.Q102del InFrameDeletion 2/20 - 1
17-78078689-C-A c.304C>A p.Q102K Missense 2/20 - 5
17-78078689-C-G c.304C>G p.Q102E Missense 2/20 - 4
17-78078689-C-T c.304C>T p.Q102* Nonsense 2/20 - 2
17-78078690-A-AAGC c.305_306insAGC p.Q102_C103insA InFrameInsertion 2/20 - 1
17-78078690-A-C c.305A>C p.Q102P Missense 2/20 - 1
17-78078690-A-G c.305A>G p.Q102R Missense 2/20 - 6
17-78078690-A-T c.305A>T p.Q102L Missense 2/20 - 2
17-78078690-CAGTG-C c.305_308del p.Q102Pfs*39 Frameshift 2/20 - 1
17-78078689-CAGTGCGAGGCCCGCGGCTGTTGCT-C c.306_329del p.Q102_Y110delinsH MultiAAMissense 2/20 - 1
17-78078691-AG-A c.306del p.Q102Hfs*40 Frameshift 2/20 - 1
17-78078691-AGTGCGAGGCCCG-A c.306_317del p.Q102_R106delinsH MultiAAMissense 2/20 - 1
17-78078691-G-A c.306G>A p.Q102= Synonymous 2/20 - 3
17-78078691-G-C c.306G>C p.Q102H Missense 2/20 - 3
17-78078691-G-T c.306G>T p.Q102H Missense 2/20 - 4
17-78078692-GT-G c.307del p.C103Afs*39 Frameshift 2/20 - 2
17-78078692-T-A c.307T>A p.C103S Missense 2/20 - 1
17-78078692-T-C c.307T>C p.C103R Missense 2/20 - 6
17-78078692-T-G c.307T>G p.C103G Missense 2/20 - 32
17-78078692-TG-AC c.307_308delinsAC p.C103T Missense 2/20 - 1
17-78078692-TG-GC c.307_308delinsGC p.C103A Missense 2/20 - 1
17-78078692-T-TG c.308dup p.C103Wfs*43 Frameshift 2/20 - 1
17-78078693-G-A c.308G>A p.C103Y Missense 2/20 - 2
17-78078693-G-GT c.308_309insT p.E104Rfs*42 Frameshift 2/20 - 1
17-78078693-G-T c.308G>T p.C103F Missense 2/20 - 3
17-78078694-C-A c.309C>A p.C103* Nonsense 2/20 - 2
17-78078694-C-CCGATGGATGGATGGATGAATGGAAGGATGA c.309_310insCGATGGATGGATGGATGAATGGAAGGATGA p.C103_E104insRWMDG* Frameshift 2/20 - 1
17-78078694-C-CT c.309_310insT p.E104* Nonsense 2/20 - 2
17-78078694-C-G c.309C>G p.C103W Missense 2/20 - 6
17-78078694-C-T c.309C>T p.C103= Synonymous 2/20 - 7
17-78078694-GC-G c.309del p.C103Wfs*39 Frameshift 2/20 - 2
17-78078695-G-A c.310G>A p.E104K Missense 2/20 - 6
17-78078695-GA-AC c.310_311delinsAC p.E104T Missense 2/20 - 1
17-78078695-GA-AG c.310_311delinsAG p.E104R Missense 2/20 - 1
17-78078695-GA-AT c.310_311delinsAT p.E104M Missense 2/20 - 1
17-78078695-GA-CC c.310_311delinsCC p.E104P Missense 2/20 - 1
17-78078695-GA-CT c.310_311delinsCT p.E104L Missense 2/20 - 1
17-78078695-GAG-AAC c.310_312delinsAAC p.E104N Missense 2/20 - 2
17-78078695-GAG-ATC c.310_312delinsATC p.E104I Missense 2/20 - 1
17-78078695-GAG-CAT c.310_312delinsCAT p.E104H Missense 2/20 - 1
17-78078695-GAG-TAT c.310_312delinsTAT p.E104Y Missense 2/20 - 1
17-78078695-GAG-TGT c.310_312delinsTGT p.E104C Missense 2/20 - 2
17-78078695-GAG-TTT c.310_312delinsTTT p.E104F Missense 2/20 - 1
17-78078695-GA-TC c.310_311inv p.E104S Missense 2/20 - 1
17-78078695-GA-TG c.310_311delinsTG p.E104W Missense 2/20 - 1
17-78078695-G-C c.310G>C p.E104Q Missense 2/20 - 4
17-78078695-G-T c.310G>T p.E104* Nonsense 2/20 - 1
17-78078696-A-C c.311A>C p.E104A Missense 2/20 - 5
17-78078696-A-G c.311A>G p.E104G Missense 2/20 - 5
17-78078696-A-T c.311A>T p.E104V Missense 2/20 - 2
17-78078696-GA-G c.311del p.E104Gfs*38 Frameshift 2/20 - 1
17-78078695-GAGGCCCGCGGCTGTTGCT-G c.312_329del p.E104_Y110delinsD MultiAAMissense 2/20 - 1
17-78078697-AGGC-A c.312_314del p.E104_A105delinsD MultiAAMissense 2/20 - 1
17-78078697-G-A c.312G>A p.E104= Synonymous 2/20 - 2
17-78078697-G-C c.312G>C p.E104D Missense 2/20 - 4
17-78078697-G-T c.312G>T p.E104D Missense 2/20 - 5
17-78078696-A-AG c.313dup p.A105Gfs*41 Frameshift 2/20 - 2
17-78078696-AG-A c.313del p.A105Pfs*37 Frameshift 2/20 - 1
17-78078697-G-GGGC c.313_314insGCG p.E104_A105insG InFrameInsertion 2/20 - 1
17-78078697-G-GGTCA c.313_314insTCAG p.A105Vfs*42 Frameshift 2/20 - 1
17-78078698-G-A c.313G>A p.A105T Missense 2/20 - 2
17-78078698-GCC-TAA c.313_315delinsTAA p.A105* Nonsense 2/20 - 1
17-78078699-C-A c.314C>A p.A105D Missense 2/20 - 3
17-78078699-C-CAA c.314_315insAA p.R106Tfs*37 Frameshift 2/20 - 1
17-78078699-C-G c.314C>G p.A105G Missense 2/20 - 3
17-78078699-C-T c.314C>T p.A105V Missense 2/20 - 3
17-78078700-C-A c.315C>A p.A105= Synonymous 2/20 - 5
17-78078700-C-G c.315C>G p.A105= Synonymous 2/20 - 4
17-78078700-C-T c.315C>T p.A105= Synonymous 2/20 - 6
17-78078698-GC-G c.316del p.R106Afs*36 Frameshift 2/20 - 1
17-78078698-G-GC c.316dup p.R106Pfs*40 Frameshift 2/20 - 2
17-78078699-CCCG-C c.316_318del p.R106del InFrameDeletion 2/20 - 1
17-78078701-C-A c.316C>A p.R106S Missense 2/20 - 1
17-78078701-C-CT c.316_317insT p.R106Lfs*40 Frameshift 2/20 - 1
17-78078701-C-CTT c.316_317insTT p.R106Lfs*37 Frameshift 2/20 - 1
17-78078701-C-CTTT c.316_317insTTT p.R106delinsLC MultiAAMissense 2/20 - 1
17-78078701-C-G c.316C>G p.R106G Missense 2/20 - 2
17-78078701-CG-AA c.316_317delinsAA p.R106N Missense 2/20 - 1
17-78078701-CG-AC c.316_317delinsAC p.R106T Missense 2/20 - 2
17-78078701-CG-AT c.316_317delinsAT p.R106I Missense 2/20 - 1
17-78078701-CGC-AAG c.316_318delinsAAG p.R106K Missense 2/20 - 2
17-78078701-CGC-ATG c.316_318delinsATG p.R106M Missense 2/20 - 1
17-78078701-CGC-GAG c.316_318delinsGAG p.R106E Missense 2/20 - 1
17-78078701-CGC-TGA c.316_318delinsTGA p.R106* Nonsense 2/20 - 1
17-78078701-CGC-TGG c.316_318delinsTGG p.R106W Missense 2/20 - 4
17-78078701-CG-GA c.316_317delinsGA p.R106D Missense 2/20 - 1
17-78078701-CG-GC c.316_317delinsGC p.R106A Missense 2/20 - 1
17-78078701-CG-GT c.316_317delinsGT p.R106V Missense 2/20 - 1
17-78078701-CG-TA c.316_317delinsTA p.R106Y Missense 2/20 - 1
17-78078701-CG-TT c.316_317delinsTT p.R106F Missense 2/20 - 1
17-78078701-C-T c.316C>T p.R106C Missense 2/20 - 10
17-78078701-C-CG c.317dup p.G107Rfs*39 Frameshift 2/20 - 1
17-78078702-G-A c.317G>A p.R106H Missense 2/20 - 9
17-78078702-G-C c.317G>C p.R106P Missense 2/20 - 2
17-78078702-GC-AA c.317_318delinsAA p.R106Q Missense 2/20 - 5
17-78078702-G-GAAC c.317_318insAAC p.R106_G107insT InFrameInsertion 2/20 - 1
17-78078702-G-GTT c.317_318insTT p.G107Sfs*36 Frameshift 2/20 - 1
17-78078702-G-T c.317G>T p.R106L Missense 2/20 - 1
17-78078702-G-GC c.318dup p.G107Rfs*39 Frameshift 2/20 - 2
17-78078702-G-GCTTT c.318_319insTTTC p.G107Ffs*40 Frameshift 2/20 - 1
17-78078703-C-A c.318C>A p.R106= Synonymous 2/20 - 1
17-78078703-C-G c.318C>G p.R106= Synonymous 2/20 - 4
17-78078703-C-T c.318C>T p.R106= Synonymous 2/20 - 6
17-78078703-GC-G c.318del p.G107Afs*35 Frameshift 2/20 - 1
17-78078701-CGCG-C c.319_321del p.G107del InFrameDeletion 2/20 - 1
17-78078701-CGCGGCTGTT-C c.319_327del p.G107_C109del InFrameDeletion 2/20 - 1
17-78078704-CGGCTGTTG-C c.319_326del p.G107Lfs*36 Frameshift 2/20 - 1
17-78078704-G-A c.319G>A p.G107S Missense 2/20 - 8
17-78078704-G-C c.319G>C p.G107R Missense 2/20 - 2
17-78078704-G-GC c.319_320insC p.G107Afs*39 Frameshift 2/20 - 1
17-78078704-G-GT c.319_320insT p.G107Vfs*39 Frameshift 2/20 - 1
17-78078704-G-T c.319G>T p.G107C Missense 2/20 - 5
17-78078703-C-CG c.320dup p.C108Lfs*38 Frameshift 2/20 - 2
17-78078705-G-A c.320G>A p.G107D Missense 2/20 - 2
17-78078705-G-C c.320G>C p.G107A Missense 2/20 - 3
17-78078705-GC-AG c.320_321delinsAG p.G107E Missense 2/20 - 2
17-78078705-G-T c.320G>T p.G107V Missense 2/20 - 1
17-78078706-C-A c.321C>A p.G107= Synonymous 2/20 - 2
17-78078706-C-CA c.321_322insA p.C108Mfs*38 Frameshift 2/20 - 1
17-78078706-C-G c.321C>G p.G107= Synonymous 2/20 - 1
17-78078706-C-T c.321C>T p.G107= Synonymous 2/20 - 5
17-78078705-GCTGTTGCTACAT-G c.322_333del p.C108_I111del InFrameDeletion 2/20 - 1
17-78078707-CT-C c.322del p.C108Vfs*34 Frameshift 2/20 - 1
17-78078707-T-A c.322T>A p.C108S Missense 2/20 - 1
17-78078707-T-C c.322T>C p.C108R Missense 2/20 - 3
17-78078707-T-G c.322T>G p.C108G Missense 2/20 - 3
17-78078707-TG-GC c.322_323delinsGC p.C108A Missense 2/20 - 2
17-78078707-T-TAA c.322_323insAA p.C108* Nonsense 2/20 - 1
17-78078708-G-C c.323G>C p.C108S Missense 2/20 - 4
17-78078704-GGCTGTT-G c.323_328del p.C108_C109del InFrameDeletion 2/20 - 2
17-78078707-T-TG c.323dup p.C108Wfs*38 Frameshift 2/20 - 1
17-78078708-G-A c.323G>A p.C108Y Missense 2/20 - 6
17-78078708-G-T c.323G>T p.C108F Missense 2/20 - 2
17-78078706-CTGT-C c.324_326del p.C109del InFrameDeletion 2/20 - 1
17-78078709-GTT-G c.324_325del p.C108Wfs*37 Frameshift 2/20 - 1
17-78078709-T-C c.324T>C p.C108= Synonymous 2/20 - 35
17-78078709-T-G c.324T>G p.C108W Missense 2/20 - 1
17-78078708-GT-G c.325del p.C109Afs*33 Frameshift 2/20 - 1
17-78078709-T-TTC c.325_326insCT p.C109Sfs*34 Frameshift 2/20 - 1
17-78078710-T-A c.325T>A p.C109S Missense 2/20 - 1
17-78078710-T-C c.325T>C p.C109R Missense 2/20 - 8
17-78078710-T-G c.325T>G p.C109G Missense 2/20 - 3
17-78078710-TG-GC c.325_326delinsGC p.C109A Missense 2/20 - 1
17-78078711-G-C c.326G>C p.C109S Missense 2/20 - 1
17-78078710-T-TG c.326dup p.C109Wfs*37 Frameshift 2/20 - 2
17-78078711-G-A c.326G>A p.C109Y Missense 2/20 - 2
17-78078711-G-GC c.327dup p.Y110Lfs*36 Frameshift 2/20 - 2
17-78078712-C-A c.327C>A p.C109* Nonsense 2/20 - 2
17-78078712-C-G c.327C>G p.C109W Missense 2/20 - 1
17-78078712-C-T c.327C>T p.C109= Synonymous 2/20 - 9
17-78078712-GC-G c.327del p.Y110Tfs*32 Frameshift 2/20 - 1
17-78078710-TGCTACATCCCTGCAAA-T c.328_343del p.Y110Rfs*27 Frameshift 2/20 - 1
17-78078711-GCTA-G c.328_330del p.Y110del InFrameDeletion 2/20 - 3
17-78078712-C-CT c.328dup p.Y110Lfs*36 Frameshift 2/20 - 1
17-78078713-T-A c.328T>A p.Y110N Missense 2/20 - 2
17-78078713-TAC-GAG c.328_330delinsGAG p.Y110E Missense 2/20 - 1
17-78078713-T-C c.328T>C p.Y110H Missense 2/20 - 7
17-78078713-T-G c.328T>G p.Y110D Missense 2/20 - 2
17-78078713-T-TTC c.328_329insTC p.Y110Ffs*33 Frameshift 2/20 - 1
17-78078713-T-TA c.329dup p.Y110* Nonsense 2/20 - 1
17-78078714-A-C c.329A>C p.Y110S Missense 2/20 - 1
17-78078714-A-G c.329A>G p.Y110C Missense 2/20 - 1
17-78078714-A-T c.329A>T p.Y110F Missense 2/20 - 1
17-78078714-A-AC c.330dup p.I111Hfs*35 Frameshift 2/20 - 1
17-78078715-C-A c.330C>A p.Y110* Nonsense 2/20 - 2
17-78078715-C-CCGATGGATGGATGGATGAATGGAAGGATGA c.330_331insCGATGGATGGATGGATGAATGGAAGGATGA p.Y110_I111insRWMDG* Frameshift 2/20 - 1
17-78078715-C-CCT c.330_331insCT p.I111Lfs*32 Frameshift 2/20 - 1
17-78078715-C-G c.330C>G p.Y110* Nonsense 2/20 - 2
17-78078715-C-T c.330C>T p.Y110= Synonymous 2/20 - 4
17-78078714-ACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCC-A c.332_390del p.I111Tfs*15 InFrameDeletion 2/20 - 1
17-78078715-C-CA c.331dup p.I111Nfs*35 Frameshift 2/20 - 2
17-78078716-A-G c.331A>G p.I111V Missense 2/20 - 7
17-78078716-ATC-GAG c.331_333delinsGAG p.I111E Missense 2/20 - 1
17-78078716-CAT-C c.331_332del p.I111Pfs*34 Frameshift 2/20 - 1
17-78078716-CATCCCTGCAAAG-C c.331_342del p.I111_K114del InFrameDeletion 2/20 - 1
17-78078714-ACATCCCTG-A c.332_339del p.I111Kfs*32 Frameshift 2/20 - 1
17-78078716-A-AT c.332dup p.A113Cfs*33 Frameshift 2/20 - 1
17-78078717-AT-A c.332del p.I111Tfs*31 Frameshift 2/20 - 1
17-78078717-T-C c.332T>C p.I111T Missense 2/20 - 3
17-78078718-C-A c.333C>A p.I111= Synonymous 2/20 - 4
17-78078718-C-CTT c.333_334insTT p.P112Ffs*31 Frameshift 2/20 - 1
17-78078718-C-G c.333C>G p.I111M Missense 2/20 - 2
17-78078718-C-T c.333C>T p.I111= Synonymous 2/20 - 5
17-78078717-TCC-T c.334_335del p.P112Cfs*33 Frameshift 2/20 - 1
17-78078719-C-A c.334C>A p.P112T Missense 2/20 - 2
17-78078719-CCCT-C c.334_336del p.P112del InFrameDeletion 2/20 - 1
17-78078719-CC-TT c.334_335delinsTT p.P112F Missense 2/20 - 1
17-78078719-C-G c.334C>G p.P112A Missense 2/20 - 3
17-78078719-C-T c.334C>T p.P112S Missense 2/20 - 6
17-78078717-T-TC c.335dup p.A113Cfs*33 Frameshift 2/20 - 2
17-78078718-CCCTGCAAAG-C c.335_343del p.P112_K114del InFrameDeletion 2/20 - 1
17-78078720-C-A c.335C>A p.P112H Missense 2/20 - 2
17-78078720-C-T c.335C>T p.P112L Missense 2/20 - 5
17-78078719-CCTG-C c.336_338del p.A113del InFrameDeletion 2/20 - 1
17-78078721-CT-C c.336del p.A113Qfs*29 Frameshift 2/20 - 1
17-78078721-T-A c.336T>A p.P112= Synonymous 2/20 - 6
17-78078721-T-C c.336T>C p.P112= Synonymous 2/20 - 11
17-78078721-T-G c.336T>G p.P112= Synonymous 2/20 - 6
17-78078721-T-TG c.337dup p.A113Gfs*33 Frameshift 2/20 - 1
17-78078722-G-A c.337G>A p.A113T Missense 2/20 - 5
17-78078722-G-C c.337G>C p.A113P Missense 2/20 - 5
17-78078722-G-T c.337G>T p.A113S Missense 2/20 - 2
17-78078722-TGCAAAGCAGGGGCTGCAGGGAGCCCAGA-T c.337_364del p.A113Wfs*20 Frameshift 2/20 - 1
17-78078722-TGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGG-T c.337_378del p.A113_W126del InFrameDeletion 2/20 - 1
17-78078722-TGCA-T c.337_339del p.A113del InFrameDeletion 2/20 - 1
17-78078722-TGC-T c.337_338del p.A113Kfs*32 Frameshift 2/20 - 1
17-78078721-TGCAAAGCA-T c.338_345del p.A113Gfs*30 Frameshift 2/20 - 1
17-78078723-C-A c.338C>A p.A113E Missense 2/20 - 4
17-78078723-CA-AC c.338_339delinsAC p.A113D Missense 2/20 - 1
17-78078723-C-CG c.338_339insG p.Q115Afs*31 Frameshift 2/20 - 1
17-78078723-C-T c.338C>T p.A113V Missense 2/20 - 3
17-78078723-GCAAAGCAGGGGCTGC-G c.338_352del p.A113_Q118delinsE MultiAAMissense 2/20 - 1
17-78078724-A-AG c.339_340insG p.K114Efs*32 Frameshift 2/20 - 1
17-78078724-A-AT c.339_340insT p.K114* Nonsense 2/20 - 3
17-78078724-A-C c.339A>C p.A113= Synonymous 2/20 - 4
17-78078724-A-G c.339A>G p.A113= Synonymous 2/20 - 5
17-78078724-A-T c.339A>T p.A113= Synonymous 2/20 - 4
17-78078725-AAAG-A c.340_342del p.K114del InFrameDeletion 2/20 - 2
17-78078725-A-AG c.340_341insG p.K114Rfs*32 Frameshift 2/20 - 1
17-78078725-A-AT c.340_341insT p.K114Ifs*32 Frameshift 2/20 - 6
17-78078725-A-C c.340A>C p.K114Q Missense 2/20 - 1
17-78078725-A-G c.340A>G p.K114E Missense 2/20 - 3
17-78078725-A-T c.340A>T p.K114* Nonsense 2/20 - 1
17-78078723-CA-C c.341del p.K114Sfs*28 Frameshift 2/20 - 1
17-78078723-C-CA c.341dup p.Q115Afs*31 Frameshift 2/20 - 2
17-78078724-A-AAAAC c.341_342insACAA p.G116Afs*31 Frameshift 2/20 - 1
17-78078726-AAGCAGGGGCTG-A c.341_351del p.K114Tfs*28 Frameshift 2/20 - 1
17-78078726-A-AT c.341_342insT p.K114Nfs*32 Frameshift 2/20 - 3
17-78078726-A-G c.341A>G p.K114R Missense 2/20 - 2
17-78078726-AGCAGGGG-T c.341_348delinsT p.K114Ifs*26 Frameshift 2/20 - 1
17-78078726-A-T c.341A>T p.K114M Missense 2/20 - 1
17-78078726-A-AG c.342dup p.Q115Afs*31 Frameshift 2/20 - 1
17-78078727-AG-A c.342del p.K114Nfs*28 Frameshift 2/20 - 1
17-78078727-AGCAGGGGC-A c.342_349del p.K114Nfs*29 Frameshift 2/20 - 1
17-78078727-G-A c.342G>A p.K114= Synonymous 2/20 - 4
17-78078727-G-C c.342G>C p.K114N Missense 2/20 - 1
17-78078727-G-T c.342G>T p.K114N Missense 2/20 - 3
17-78078727-G-GC c.343dup p.Q115Pfs*31 Frameshift 2/20 - 1
17-78078728-C-A c.343C>A p.Q115K Missense 2/20 - 3
17-78078728-CAG-AAC c.343_345delinsAAC p.Q115N Missense 2/20 - 1
17-78078728-CA-TG c.343_344inv p.Q115W Missense 2/20 - 1
17-78078728-C-CT c.343_344insT p.Q115Lfs*31 Frameshift 2/20 - 1
17-78078728-C-G c.343C>G p.Q115E Missense 2/20 - 2
17-78078728-C-T c.343C>T p.Q115* Nonsense 2/20 - 8
17-78078728-C-CAA c.344_345insAA p.G116Rfs*27 Frameshift 2/20 - 1
17-78078729-A-AT c.344_345insT p.Q115Hfs*31 Frameshift 2/20 - 1
17-78078729-A-ATT c.344_345insTT p.Q115Hfs*28 Frameshift 2/20 - 1
17-78078729-A-C c.344A>C p.Q115P Missense 2/20 - 2
17-78078729-A-G c.344A>G p.Q115R Missense 2/20 - 2
17-78078729-AGGGGC-CTA c.344_349delinsCTA p.Q115_L117delinsPM MultiAAMissense 2/20 - 1
17-78078729-A-T c.344A>T p.Q115L Missense 2/20 - 2
17-78078730-G-A c.345G>A p.Q115= Synonymous 2/20 - 4
17-78078730-G-C c.345G>C p.Q115H Missense 2/20 - 4
17-78078730-G-T c.345G>T p.Q115H Missense 2/20 - 5
17-78078729-AGGG-A c.346_348del p.G116del InFrameDeletion 2/20 - 1
17-78078731-G-A c.346G>A p.G116R Missense 2/20 - 4
17-78078731-G-C c.346G>C p.G116R Missense 2/20 - 1
17-78078731-GGG-AGC c.346_348delinsAGC p.G116S Missense 2/20 - 2
17-78078731-GGGGC-G c.346_349del p.G116Cfs*25 Frameshift 2/20 - 1
17-78078731-GGG-TTT c.346_348delinsTTT p.G116F Missense 2/20 - 1
17-78078731-GG-TA c.346_347delinsTA p.G116* Nonsense 2/20 - 1
17-78078731-G-T c.346G>T p.G116W Missense 2/20 - 1
17-78078732-G-A c.347G>A p.G116E Missense 2/20 - 4
17-78078732-G-C c.347G>C p.G116A Missense 2/20 - 4
17-78078732-GG-AC c.347_348delinsAC p.G116D Missense 2/20 - 1
17-78078732-G-GT c.347_348insT p.L117Afs*29 Frameshift 2/20 - 1
17-78078732-G-T c.347G>T p.G116V Missense 2/20 - 2
17-78078726-AGCAGGGGCT-A c.348_356del p.L117_G119del InFrameDeletion 2/20 - 1
17-78078729-A-AG c.348dup p.L117Afs*29 Frameshift 2/20 - 2
17-78078729-AG-A c.348del p.L117Cfs*25 Frameshift 2/20 - 2
17-78078733-G-A c.348G>A p.G116= Synonymous 2/20 - 7
17-78078733-G-C c.348G>C p.G116= Synonymous 2/20 - 2
17-78078733-G-GA c.348_349insA p.L117Tfs*29 Frameshift 2/20 - 1
17-78078733-G-GT c.348_349insT p.L117Sfs*29 Frameshift 2/20 - 1
17-78078733-G-T c.348G>T p.G116= Synonymous 2/20 - 2
17-78078732-GGCTGCAGGGAGCCCAGAT-G c.349_366del p.L117_M122del InFrameDeletion 2/20 - 1
17-78078734-C-A c.349C>A p.L117M Missense 2/20 - 2
17-78078734-C-G c.349C>G p.L117V Missense 2/20 - 1
17-78078734-C-T c.349C>T p.L117= Synonymous 2/20 - 5
17-78078734-CTG-ATC c.349_351delinsATC p.L117I Missense 2/20 - 1
17-78078734-CT-TA c.349_350delinsTA p.L117* Nonsense 2/20 - 1
17-78078734-GC-G c.349del p.L117Cfs*25 Frameshift 2/20 - 2
17-78078729-AGGGGCTGCAGGGAGCCCAGAT-A c.350_370del p.L117_G123del InFrameDeletion 2/20 - 1
17-78078732-GGCT-G c.350_352del p.L117del InFrameDeletion 2/20 - 1
17-78078733-G-GCTCGAC c.350_351insCGACCT p.L117_Q118insDL InFrameInsertion 2/20 - 1
17-78078735-CT-C c.350del p.L117Rfs*25 Frameshift 2/20 - 1
17-78078735-CTG-C c.350_351del p.L117Pfs*28 Frameshift 2/20 - 1
17-78078735-T-A c.350T>A p.L117Q Missense 2/20 - 1
17-78078735-T-C c.350T>C p.L117P Missense 2/20 - 2
17-78078735-T-TCAG c.350_351insCAG p.L117_Q118insR InFrameInsertion 2/20 - 1
17-78078735-T-TCCA c.350_351insCCA p.Q118dup InFrameInsertion 2/20 - 1
17-78078735-T-TG c.351dup p.Q118Afs*28 Frameshift 2/20 - 2
17-78078736-G-A c.351G>A p.L117= Synonymous 2/20 - 7
17-78078736-G-C c.351G>C p.L117= Synonymous 2/20 - 3
17-78078736-G-GA c.351_352insA p.Q118Tfs*28 Frameshift 2/20 - 1
17-78078736-G-T c.351G>T p.L117= Synonymous 2/20 - 2
17-78078736-TG-T c.351del p.Q118Rfs*24 Frameshift 2/20 - 2
17-78078737-C-A c.352C>A p.Q118K Missense 2/20 - 6
17-78078737-C-CT c.352_353insT p.Q118Lfs*28 Frameshift 2/20 - 1
17-78078737-C-G c.352C>G p.Q118E Missense 2/20 - 5
17-78078737-C-T c.352C>T p.Q118* Nonsense 2/20 - 8
17-78078737-GCAGGGAGCCCAGA-G c.352_364del p.Q118Wfs*20 Frameshift 2/20 - 1
17-78078737-C-CA c.353dup p.A120Sfs*26 Frameshift 2/20 - 2
17-78078738-A-ACT c.353_354insCT p.Q118Hfs*25 Frameshift 2/20 - 1
17-78078738-A-C c.353A>C p.Q118P Missense 2/20 - 2
17-78078738-A-G c.353A>G p.Q118R Missense 2/20 - 4
17-78078738-A-T c.353A>T p.Q118L Missense 2/20 - 1
17-78078739-AGGG-A c.354_356del p.G119del InFrameDeletion 2/20 - 1
17-78078739-G-A c.354G>A p.Q118= Synonymous 2/20 - 5
17-78078739-G-C c.354G>C p.Q118H Missense 2/20 - 2
17-78078740-G-A c.355G>A p.G119R Missense 2/20 - 7
17-78078740-G-C c.355G>C p.G119R Missense 2/20 - 2
17-78078740-GGA-AGC c.355_357delinsAGC p.G119S Missense 2/20 - 4
17-78078740-G-T c.355G>T p.G119* Nonsense 2/20 - 1
17-78078738-A-AG c.356dup p.A120Sfs*26 Frameshift 2/20 - 2
17-78078738-AG-A c.356del p.G119Efs*23 Frameshift 2/20 - 1
17-78078741-G-A c.356G>A p.G119E Missense 2/20 - 5
17-78078741-GA-AC c.356_357delinsAC p.G119D Missense 2/20 - 1
17-78078741-G-C c.356G>C p.G119A Missense 2/20 - 2
17-78078741-G-T c.356G>T p.G119V Missense 2/20 - 1
17-78078741-G-GA c.357dup p.A120Sfs*26 Frameshift 2/20 - 1
17-78078742-A-C c.357A>C p.G119= Synonymous 2/20 - 4
17-78078742-A-G c.357A>G p.G119= Synonymous 2/20 - 4
17-78078742-A-T c.357A>T p.G119= Synonymous 2/20 - 5
17-78078742-GA-G c.357del p.A120Pfs*22 Frameshift 2/20 - 1
17-78078742-GAGCCCA-G c.357_362del p.A120_Q121del InFrameDeletion 2/20 - 1
17-78078742-GAGC-G c.357_359del p.A120del InFrameDeletion 2/20 - 1
17-78078742-A-AG c.358dup p.A120Gfs*26 Frameshift 2/20 - 1
17-78078743-AGCC-A c.358_360del p.A120del InFrameDeletion 2/20 - 1
17-78078743-G-A c.358G>A p.A120T Missense 2/20 - 6
17-78078743-G-C c.358G>C p.A120P Missense 2/20 - 1
17-78078743-G-T c.358G>T p.A120S Missense 2/20 - 4
17-78078744-C-A c.359C>A p.A120D Missense 2/20 - 2
17-78078744-C-CGTTA c.359_360insGTTA p.Q121Lfs*26 Frameshift 2/20 - 1
17-78078744-C-T c.359C>T p.A120V Missense 2/20 - 4
17-78078744-C-CCA c.360_361insAC p.Q121Tfs*22 Frameshift 2/20 - 1
17-78078745-C-A c.360C>A p.A120= Synonymous 2/20 - 6
17-78078745-C-G c.360C>G p.A120= Synonymous 2/20 - 4
17-78078745-C-T c.360C>T p.A120= Synonymous 2/20 - 6
17-78078743-GC-G c.361del p.Q121Rfs*21 Frameshift 2/20 - 1
17-78078743-G-GC c.361dup p.Q121Pfs*25 Frameshift 2/20 - 2
17-78078746-C-T c.361C>T p.Q121* Nonsense 2/20 - 1
17-78078746-C-CA c.362dup p.M122Dfs*24 Frameshift 2/20 - 1
17-78078746-C-CAACCCTG c.362_363insACCCTGA p.M122Pfs*2 Frameshift 2/20 - 1
17-78078747-A-C c.362A>C p.Q121P Missense 2/20 - 4
17-78078747-A-G c.362A>G p.Q121R Missense 2/20 - 3
17-78078747-A-T c.362A>T p.Q121L Missense 2/20 - 1
17-78078747-CA-C c.362del p.Q121Rfs*21 Frameshift 2/20 - 1
17-78078747-A-AG c.363dup p.M122Dfs*24 Frameshift 2/20 - 1
17-78078748-AG-A c.363del p.M122Wfs*20 Frameshift 2/20 - 1
17-78078748-G-A c.363G>A p.Q121= Synonymous 2/20 - 3
17-78078748-G-C c.363G>C p.Q121H Missense 2/20 - 1
17-78078748-G-T c.363G>T p.Q121H Missense 2/20 - 1
17-78078747-AGAT-A c.364_366del p.M122del InFrameDeletion 2/20 - 1
17-78078748-G-GA c.364dup p.M122Nfs*24 Frameshift 2/20 - 1
17-78078749-A-C c.364A>C p.M122L Missense 2/20 - 2
17-78078749-A-G c.364A>G p.M122V Missense 2/20 - 4
17-78078749-A-T c.364A>T p.M122L Missense 2/20 - 2
17-78078749-AT-GA c.364_365delinsGA p.M122E Missense 2/20 - 1
17-78078749-AT-GC c.364_365delinsGC p.M122A Missense 2/20 - 1
17-78078749-GA-G c.364del p.M122Wfs*20 Frameshift 2/20 - 2
17-78078749-GAT-G c.364_365del p.M122Gfs*23 Frameshift 2/20 - 1
17-78078749-GATGGGGCAGCCC-G c.364_375del p.M122_P125del InFrameDeletion 2/20 - 1
17-78078749-A-AT c.365dup p.M122Ifs*24 Frameshift 2/20 - 1
17-78078750-AT-A c.365del p.M122Rfs*20 Frameshift 2/20 - 2
17-78078750-T-A c.365T>A p.M122K Missense 2/20 - 2
17-78078750-T-C c.365T>C p.M122T Missense 2/20 - 4
17-78078750-T-G c.365T>G p.M122R Missense 2/20 - 1
17-78078751-G-A c.366G>A p.M122I Missense 2/20 - 3
17-78078751-G-C c.366G>C p.M122I Missense 2/20 - 2
17-78078751-G-T c.366G>T p.M122I Missense 2/20 - 2
17-78078752-G-A c.367G>A p.G123R Missense 2/20 - 3
17-78078752-G-C c.367G>C p.G123R Missense 2/20 - 2
17-78078752-GGG-AGC c.367_369delinsAGC p.G123S Missense 2/20 - 1
17-78078752-GGG-TGT c.367_369delinsTGT p.G123C Missense 2/20 - 1
17-78078752-G-T c.367G>T p.G123W Missense 2/20 - 2
17-78078753-G-A c.368G>A p.G123E Missense 2/20 - 7
17-78078753-G-C c.368G>C p.G123A Missense 2/20 - 1
17-78078753-G-T c.368G>T p.G123V Missense 2/20 - 2
17-78078750-TG-T c.369del p.Q124Sfs*18 Frameshift 2/20 - 2
17-78078750-T-TG c.369dup p.Q124Afs*22 Frameshift 2/20 - 2
17-78078754-G-A c.369G>A p.G123= Synonymous 2/20 - 7
17-78078754-G-C c.369G>C p.G123= Synonymous 2/20 - 5
17-78078754-G-T c.369G>T p.G123= Synonymous 2/20 - 6
17-78078753-G-GGCCGCC c.370_371insCGCCGC p.G123_Q124insPP InFrameInsertion 2/20 - 1
17-78078754-G-GC c.370dup p.Q124Pfs*22 Frameshift 2/20 - 1
17-78078754-G-GCGATGGATGGATGGATGAATGGAAGGATGA c.370_371insGATGGATGGATGGATGAATGGAAGGATGAC p.G123_Q124insRWMDG* Frameshift 2/20 - 1
17-78078755-C-A c.370C>A p.Q124K Missense 2/20 - 2
17-78078755-CA-GC c.370_371delinsGC p.Q124A Missense 2/20 - 1
17-78078755-C-CTT c.370_371insTT p.Q124Lfs*19 Frameshift 2/20 - 1
17-78078755-C-G c.370C>G p.Q124E Missense 2/20 - 3
17-78078755-C-T c.370C>T p.Q124* Nonsense 2/20 - 3
17-78078755-C-CA c.371dup p.P125Afs*21 Frameshift 2/20 - 2
17-78078756-A-G c.371A>G p.Q124R Missense 2/20 - 2
17-78078756-CA-C c.371del p.Q124Rfs*18 Frameshift 2/20 - 1
17-78078756-CAG-C c.371_372del p.Q124Pfs*21 Frameshift 2/20 - 1
17-78078757-G-A c.372G>A p.Q124= Synonymous 2/20 - 5
17-78078757-G-C c.372G>C p.Q124H Missense 2/20 - 2
17-78078757-G-T c.372G>T p.Q124H Missense 2/20 - 2
17-78078758-C-G c.373C>G p.P125A Missense 2/20 - 2
17-78078758-C-T c.373C>T p.P125S Missense 2/20 - 7
17-78078759-C-A c.374C>A p.P125H Missense 2/20 - 2
17-78078759-C-CGTTCG c.374_375insGTTCG p.W126Ffs*18 Frameshift 2/20 - 1
17-78078759-C-G c.374C>G p.P125R Missense 2/20 - 1
17-78078759-C-T c.374C>T p.P125L Missense 2/20 - 4
17-78078757-GC-G c.375del p.W126Gfs*16 Frameshift 2/20 - 1
17-78078757-G-GC c.375dup p.W126Lfs*20 Frameshift 2/20 - 1
17-78078760-C-A c.375C>A p.P125= Synonymous 2/20 - 2
17-78078760-C-G c.375C>G p.P125= Synonymous 2/20 - 1
17-78078760-C-T c.375C>T p.P125= Synonymous 2/20 - 6
17-78078760-C-CT c.376dup p.W126Lfs*20 Frameshift 2/20 - 2
17-78078761-CT-C c.376del p.W126Gfs*16 Frameshift 2/20 - 2
17-78078761-T-A c.376T>A p.W126R Missense 2/20 - 1
17-78078761-T-C c.376T>C p.W126R Missense 2/20 - 2
17-78078761-T-G c.376T>G p.W126G Missense 2/20 - 3
17-78078762-G-A c.377G>A p.W126* Nonsense 2/20 - 2
17-78078762-G-T c.377G>T p.W126L Missense 2/20 - 2
17-78078762-TGG-T c.377_378del p.W126Lfs*19 Frameshift 2/20 - 1
17-78078761-TGGTGCTTCTTCCCACCCAGCTACCCCA-T c.378_404del p.W126_S135delinsC MultiAAMissense 2/20 - 1
17-78078761-T-TG c.378dup p.C127Vfs*19 Frameshift 2/20 - 2
17-78078763-G-A c.378G>A p.W126* Nonsense 2/20 - 5
17-78078763-G-C c.378G>C p.W126C Missense 2/20 - 2
17-78078763-G-T c.378G>T p.W126C Missense 2/20 - 2
17-78078762-GGT-G c.379_380del p.C127Lfs*18 Frameshift 2/20 - 8
17-78078763-G-GT c.379dup p.C127Lfs*19 Frameshift 2/20 - 1
17-78078763-G-GTT c.379_380insTT p.C127Ffs*16 Frameshift 2/20 - 1
17-78078764-GT-G c.379del p.C127Afs*15 Frameshift 2/20 - 2
17-78078764-T-A c.379T>A p.C127S Missense 2/20 - 1
17-78078764-TGC-AGCAGG c.379_381delinsAGCAGG p.C127delinsSR MultiAAMissense 2/20 - 1
17-78078765-G-C c.380G>C p.C127S Missense 2/20 - 1
17-78078763-GTGC-G c.380_382del p.C127del InFrameDeletion 2/20 - 1
17-78078763-GTGCT-G c.380_383del p.C127Sfs*14 Frameshift 2/20 - 1
17-78078764-T-TG c.380dup p.C127Wfs*19 Frameshift 2/20 - 2
17-78078765-G-A c.380G>A p.C127Y Missense 2/20 - 5
17-78078765-G-T c.380G>T p.C127F Missense 2/20 - 4
17-78078765-G-GC c.381dup p.F128Lfs*18 Frameshift 2/20 - 1
17-78078766-C-A c.381C>A p.C127* Nonsense 2/20 - 3
17-78078766-C-CA c.381_382insA p.F128Ifs*18 Frameshift 2/20 - 1
17-78078766-C-T c.381C>T p.C127= Synonymous 2/20 - 8
17-78078767-CTT-C c.382_383del p.F128Lfs*17 Frameshift 2/20 - 1
17-78078767-T-C c.382T>C p.F128L Missense 2/20 - 3
17-78078767-T-TAA c.382_383insAA p.F128* Nonsense 2/20 - 1
17-78078767-T-TCCCCAG c.382_383insCCCCAG p.F128delinsSPV MultiAAMissense 2/20 - 1
17-78078769-C-A c.384C>A p.F128L Missense 2/20 - 3
17-78078769-C-G c.384C>G p.F128L Missense 2/20 - 3
17-78078766-CT-C c.383del p.F128Sfs*14 Frameshift 2/20 - 3
17-78078768-T-A c.383T>A p.F128Y Missense 2/20 - 1
17-78078768-T-C c.383T>C p.F128S Missense 2/20 - 1
17-78078768-T-TAAC c.383_384insAAC p.F128delinsLT MultiAAMissense 2/20 - 1
17-78078768-T-TGC c.383_384insGC p.F128Lfs*15 Frameshift 2/20 - 1
17-78078768-T-TC c.384dup p.F129Lfs*17 Frameshift 2/20 - 1
17-78078769-C-T c.384C>T p.F128= Synonymous 2/20 - 3
17-78078765-GCTT-G c.385_387del p.F129del InFrameDeletion 2/20 - 1
17-78078770-CTT-C c.385_386del p.F129Pfs*16 Frameshift 2/20 - 1
17-78078770-CTTCCCACCCAGCTACCCCAGCTACAAGCTGG-C c.385_415del p.F129Rfs*3 Frameshift 2/20 - 1
17-78078770-T-A c.385T>A p.F129I Missense 2/20 - 2
17-78078770-T-C c.385T>C p.F129L Missense 2/20 - 8
17-78078770-T-G c.385T>G p.F129V Missense 2/20 - 2
17-78078772-C-G c.387C>G p.F129L Missense 2/20 - 5
17-78078769-CT-C c.386del p.F129Sfs*13 Frameshift 2/20 - 1
17-78078771-T-C c.386T>C p.F129S Missense 2/20 - 1
17-78078771-T-G c.386T>G p.F129C Missense 2/20 - 1
17-78078771-TTC-T c.386_387del p.F129Sfs*16 Frameshift 2/20 - 1
17-78078771-T-TGC c.386_387insGC p.F129Lfs*14 Frameshift 2/20 - 1
17-78078772-C-A c.387C>A p.F129L Missense 2/20 - 5
17-78078772-C-CGAA c.387_388insGAA p.F129_P130insE InFrameInsertion 2/20 - 1
17-78078772-C-T c.387C>T p.F129= Synonymous 2/20 - 9
17-78078772-TCCCACCCAGCTACCCCAGCTACAA-T c.387_410del p.F129_K137delinsL MultiAAMissense 2/20 - 1
17-78078773-C-A c.388C>A p.P130T Missense 2/20 - 3
17-78078773-C-G c.388C>G p.P130A Missense 2/20 - 1
17-78078773-C-T c.388C>T p.P130S Missense 2/20 - 5
17-78078771-TC-T c.389del p.P130Hfs*12 Frameshift 2/20 - 1
17-78078771-T-TC c.389dup p.P131Tfs*15 Frameshift 2/20 - 1
17-78078774-C-T c.389C>T p.P130L Missense 2/20 - 7
17-78078772-CCCA-C c.390_392del p.P131del InFrameDeletion 2/20 - 1
17-78078775-A-C c.390A>C p.P130= Synonymous 2/20 - 2
17-78078775-A-G c.390A>G p.P130= Synonymous 2/20 - 3
17-78078775-A-T c.390A>T p.P130= Synonymous 2/20 - 1
17-78078776-C-A c.391C>A p.P131T Missense 2/20 - 5
17-78078776-C-G c.391C>G p.P131A Missense 2/20 - 3
17-78078776-C-T c.391C>T p.P131S Missense 2/20 - 4
17-78078777-C-A c.392C>A p.P131H Missense 2/20 - 4
17-78078777-CCCAGCTACCCCAGCTACA-C c.392_409del p.P131_K137delinsQ MultiAAMissense 2/20 - 1
17-78078777-C-G c.392C>G p.P131R Missense 2/20 - 1
17-78078777-C-T c.392C>T p.P131L Missense 2/20 - 6
17-78078775-A-AC c.393dup p.S132Qfs*14 Frameshift 2/20 - 1
17-78078775-AC-A c.393del p.S132Afs*10 Frameshift 2/20 - 1
17-78078775-ACCCAGCTACC-A c.393_402del p.S132Afs*7 Frameshift 2/20 - 1
17-78078778-C-A c.393C>A p.P131= Synonymous 2/20 - 6
17-78078778-C-CT c.393_394insT p.S132* Nonsense 2/20 - 2
17-78078778-C-G c.393C>G p.P131= Synonymous 2/20 - 5
17-78078778-C-T c.393C>T p.P131= Synonymous 2/20 - 11
17-78078778-C-CA c.394dup p.S132Kfs*14 Frameshift 2/20 - 1
17-78078779-A-G c.394A>G p.S132G Missense 2/20 - 3
17-78078779-AG-CT c.394_395inv p.S132L Missense 2/20 - 2
17-78078779-AG-GC c.394_395delinsGC p.S132A Missense 2/20 - 1
17-78078779-AG-TT c.394_395delinsTT p.S132F Missense 2/20 - 2
17-78078779-A-T c.394A>T p.S132C Missense 2/20 - 1
17-78078779-CA-C c.394del p.S132Afs*10 Frameshift 2/20 - 2
17-78078779-A-AG c.395dup p.S132Rfs*14 Frameshift 2/20 - 1
17-78078780-G-A c.395G>A p.S132N Missense 2/20 - 2
17-78078780-G-C c.395G>C p.S132T Missense 2/20 - 7
17-78078780-GC-AG c.395_396delinsAG p.S132K Missense 2/20 - 1
17-78078779-A-C c.394A>C p.S132R Missense 2/20 - 2
17-78078780-G-GC c.396dup p.Y133Lfs*13 Frameshift 2/20 - 1
17-78078781-C-A c.396C>A p.S132R Missense 2/20 - 3
17-78078781-C-G c.396C>G p.S132R Missense 2/20 - 4
17-78078781-C-T c.396C>T p.S132= Synonymous 2/20 - 8
17-78078780-G-GCTTTTTTTT c.397_398insTTTTTTTCT p.S132_Y133insFFF InFrameInsertion 2/20 - 1
17-78078782-CTA-C c.397_398del p.Y133Pfs*12 Frameshift 2/20 - 1
17-78078782-CT-C c.397del p.Y133Tfs*9 Frameshift 2/20 - 1
17-78078782-T-A c.397T>A p.Y133N Missense 2/20 - 3
17-78078782-T-C c.397T>C p.Y133H Missense 2/20 - 3
17-78078782-T-G c.397T>G p.Y133D Missense 2/20 - 3
17-78078782-T-TAA c.398_399insAA p.Y133* Nonsense 2/20 - 1
17-78078783-A-AT c.398_399insT p.S135Qfs*11 Frameshift 2/20 - 1
17-78078783-A-G c.398A>G p.Y133C Missense 2/20 - 1
17-78078783-TA-T c.398del p.Y133Sfs*9 Frameshift 2/20 - 1
17-78078784-C-A c.399C>A p.Y133* Nonsense 2/20 - 1
17-78078784-C-G c.399C>G p.Y133* Nonsense 2/20 - 2
17-78078784-C-T c.399C>T p.Y133= Synonymous 2/20 - 6
17-78078775-ACCCAGCTAC-A c.400_408del p.P134_Y136del InFrameDeletion 2/20 - 1
17-78078785-C-A c.400C>A p.P134T Missense 2/20 - 4
17-78078785-CCCCAGCTACAAGCTGG-C c.400_415del p.P134Rfs*3 Frameshift 2/20 - 1
17-78078785-C-G c.400C>G p.P134A Missense 2/20 - 2
17-78078785-C-T c.400C>T p.P134S Missense 2/20 - 3
17-78078786-CC-AA c.401_402delinsAA p.P134Q Missense 2/20 - 1
17-78078786-C-G c.401C>G p.P134R Missense 2/20 - 1
17-78078786-C-T c.401C>T p.P134L Missense 2/20 - 8
17-78078783-A-AC c.402dup p.S135Qfs*11 Frameshift 2/20 - 1
17-78078783-AC-A c.402del p.S135Afs*7 Frameshift 2/20 - 1
17-78078787-C-A c.402C>A p.P134= Synonymous 2/20 - 4
17-78078787-C-CT c.402_403insT p.S135* Nonsense 2/20 - 1
17-78078787-C-G c.402C>G p.P134= Synonymous 2/20 - 3
17-78078787-C-T c.402C>T p.P134= Synonymous 2/20 - 3
17-78078786-CCAGCTACAAG-C c.403_412del p.S135Wfs*4 Frameshift 2/20 - 1
17-78078787-C-CA c.403dup p.S135Kfs*11 Frameshift 2/20 - 1
17-78078788-A-G c.403A>G p.S135G Missense 2/20 - 2
17-78078788-AG-CC c.403_404delinsCC p.S135P Missense 2/20 - 1
17-78078788-AG-CT c.403_404inv p.S135L Missense 2/20 - 1
17-78078788-AGC-TGA c.403_405delinsTGA p.S135* Nonsense 2/20 - 1
17-78078788-AG-GC c.403_404delinsGC p.S135A Missense 2/20 - 3
17-78078788-AG-TA c.403_404delinsTA p.S135Y Missense 2/20 - 1
17-78078788-A-T c.403A>T p.S135C Missense 2/20 - 1
17-78078788-CAGCTACAAG-C c.403_411del p.S135_K137del InFrameDeletion 2/20 - 1
17-78078787-CAGCT-C c.404_407del p.S135Tfs*6 Frameshift 2/20 - 1
17-78078788-A-AG c.404dup p.S135Rfs*11 Frameshift 2/20 - 1
17-78078789-AG-A c.404del p.S135Tfs*7 Frameshift 2/20 - 1
17-78078789-G-A c.404G>A p.S135N Missense 2/20 - 3
17-78078789-G-C c.404G>C p.S135T Missense 2/20 - 3
17-78078788-A-C c.403A>C p.S135R Missense 2/20 - 2
17-78078790-C-A c.405C>A p.S135R Missense 2/20 - 4
17-78078790-C-G c.405C>G p.S135R Missense 2/20 - 3
17-78078790-C-T c.405C>T p.S135= Synonymous 2/20 - 6
17-78078791-T-A c.406T>A p.Y136N Missense 2/20 - 1
17-78078791-TA-GC c.406_407delinsGC p.Y136A Missense 2/20 - 1
17-78078791-T-C c.406T>C p.Y136H Missense 2/20 - 2
17-78078791-T-TA c.407dup p.Y136* Nonsense 2/20 - 1
17-78078792-A-C c.407A>C p.Y136S Missense 2/20 - 2
17-78078792-A-G c.407A>G p.Y136C Missense 2/20 - 8
17-78078792-A-T c.407A>T p.Y136F Missense 2/20 - 6
17-78078792-TACAAGC-T c.407_412del p.Y136_K137del InFrameDeletion 2/20 - 1
17-78078791-TACA-T c.408_410del p.Y136_K137delins* MultiAAMissense 2/20 - 1
17-78078792-A-AC c.408dup p.K137Qfs*9 Frameshift 2/20 - 1
17-78078793-C-A c.408C>A p.Y136* Nonsense 2/20 - 3
17-78078793-C-CT c.408_409insT p.K137* Nonsense 2/20 - 2
17-78078793-C-G c.408C>G p.Y136* Nonsense 2/20 - 2
17-78078793-C-T c.408C>T p.Y136= Synonymous 2/20 - 4
17-78078794-AA-GC c.409_410delinsGC p.K137A Missense 2/20 - 1
17-78078794-A-C c.409A>C p.K137Q Missense 2/20 - 2
17-78078794-A-G c.409A>G p.K137E Missense 2/20 - 4
17-78078794-A-T c.409A>T p.K137* Nonsense 2/20 - 3
17-78078794-CAAG-C c.409_411del p.K137del InFrameDeletion 2/20 - 2
17-78078794-CAAGCTG-C c.409_414del p.K137_L138del InFrameDeletion 2/20 - 1
17-78078793-CA-C c.410del p.K137Sfs*5 Frameshift 2/20 - 2
17-78078793-C-CA c.410dup p.L138Afs*8 Frameshift 2/20 - 1
17-78078795-AAGC-A c.410_412del p.K137_L138delinsM MultiAAMissense 2/20 - 1
17-78078795-A-C c.410A>C p.K137T Missense 2/20 - 1
17-78078795-A-G c.410A>G p.K137R Missense 2/20 - 6
17-78078795-A-T c.410A>T p.K137M Missense 2/20 - 2
17-78078796-G-A c.411G>A p.K137= Synonymous 2/20 - 3
17-78078796-G-C c.411G>C p.K137N Missense 2/20 - 4
17-78078796-GC-A c.411_412delinsA p.L138Wfs*4 Frameshift 2/20 - 1
17-78078796-G-T c.411G>T p.K137N Missense 2/20 - 4
17-78078795-AGCTG-A c.412_415del p.L138Rfs*3 Frameshift 2/20 - 1
17-78078796-G-GC c.412dup p.L138Pfs*8 Frameshift 2/20 - 1
17-78078797-C-A c.412C>A p.L138M Missense 2/20 - 6
17-78078797-C-CACA c.412_413insACA p.L138delinsHM MultiAAMissense 2/20 - 1
17-78078797-C-G c.412C>G p.L138V Missense 2/20 - 5
17-78078797-C-T c.412C>T p.L138= Synonymous 2/20 - 6
17-78078797-CT-AA c.412_413delinsAA p.L138K Missense 2/20 - 1
17-78078797-CT-AC c.412_413delinsAC p.L138T Missense 2/20 - 2
17-78078797-CTG-AAC c.412_414delinsAAC p.L138N Missense 2/20 - 2
17-78078797-CTG-ATC c.412_414delinsATC p.L138I Missense 2/20 - 2
17-78078797-CT-GC c.412_413delinsGC p.L138A Missense 2/20 - 1
17-78078797-CT-GG c.412_413delinsGG p.L138G Missense 2/20 - 1
17-78078797-CTG-TAT c.412_414delinsTAT p.L138Y Missense 2/20 - 1
17-78078797-CTG-TTT c.412_414delinsTTT p.L138F Missense 2/20 - 4
17-78078797-CT-TA c.412_413delinsTA p.L138* Nonsense 2/20 - 1
17-78078797-CT-TG c.412_413delinsTG p.L138W Missense 2/20 - 1
17-78078797-GC-G c.412del p.L138Wfs*4 Frameshift 2/20 - 1
17-78078797-GCT-G c.412_413del p.L138Gfs*7 Frameshift 2/20 - 1
17-78078797-GCTGGAGAACCTGAGCTCC-G c.412_429del p.L138_S143del InFrameDeletion 2/20 - 1
17-78078797-C-CTCT c.413_414insCTT p.L138dup InFrameInsertion 2/20 - 1
17-78078798-CT-C c.413del p.L138Rfs*4 Frameshift 2/20 - 1
17-78078798-T-A c.413T>A p.L138Q Missense 2/20 - 3
17-78078798-T-C c.413T>C p.L138P Missense 2/20 - 4
17-78078798-T-G c.413T>G p.L138R Missense 2/20 - 3
17-78078798-TG-AT c.413_414delinsAT p.L138H Missense 2/20 - 2
17-78078797-C-CTGAAGCAGGAGAAGAAG c.414_415insAAGCAGGAGAAGAAGTG p.E139Kfs*9 Frameshift 2/20 - 1
17-78078799-G-A c.414G>A p.L138= Synonymous 2/20 - 4
17-78078799-G-C c.414G>C p.L138= Synonymous 2/20 - 4
17-78078799-G-GAA c.414_415insAA p.E139Kfs*4 Frameshift 2/20 - 1
17-78078799-GG-AA c.414_415delinsAA p.E139K Missense 2/20 - 1
17-78078799-G-GT c.414_415insT p.E139* Nonsense 2/20 - 1
17-78078799-G-T c.414G>T p.L138= Synonymous 2/20 - 6
17-78078798-TG-T c.415del p.E139Rfs*3 Frameshift 2/20 - 3
17-78078798-T-TG c.415dup p.E139Gfs*7 Frameshift 2/20 - 4
17-78078800-G-A c.415G>A p.E139K Missense 2/20 - 3
17-78078800-GA-AC c.415_416delinsAC p.E139T Missense 2/20 - 1
17-78078800-G-C c.415G>C p.E139Q Missense 2/20 - 3
17-78078799-G-GGACTCCTCAGACTCA c.416_417insCTCCTCAGACTCAGA p.L138_E139insDSSDS InFrameInsertion 2/20 - 1
17-78078800-G-GA c.416dup p.N140Efs*6 Frameshift 2/20 - 2
17-78078800-G-GAA c.416_417insAA p.N140Rfs*3 Frameshift 2/20 - 1
17-78078801-A-G c.416A>G p.E139G Missense 2/20 - 2
17-78078801-A-T c.416A>T p.E139V Missense 2/20 - 2
17-78078801-GA-G c.416del p.E139Gfs*3 Frameshift 2/20 - 2
17-78078801-GAGAACCT-G c.416_422del p.E139Gfs*12 Frameshift 2/20 - 1
17-78078799-GGA-G c.417_418del p.N140Pfs*5 Frameshift 2/20 - 1
17-78078802-G-A c.417G>A p.E139= Synonymous 2/20 - 4
17-78078802-G-GT c.417_418insT p.N140* Nonsense 2/20 - 1
17-78078802-G-T c.417G>T p.E139D Missense 2/20 - 2
17-78078803-AA-CC c.418_419delinsCC p.N140P Missense 2/20 - 1
17-78078803-AAC-CAA c.418_420delinsCAA p.N140Q Missense 2/20 - 1
17-78078803-AAC-GAG c.418_420delinsGAG p.N140E Missense 2/20 - 1
17-78078803-AA-CT c.418_419delinsCT p.N140L Missense 2/20 - 1
17-78078803-AAC-TGG c.418_420delinsTGG p.N140W Missense 2/20 - 1
17-78078803-AA-GC c.418_419delinsGC p.N140A Missense 2/20 - 1
17-78078803-AA-GG c.418_419delinsGG p.N140G Missense 2/20 - 1
17-78078803-AA-GT c.418_419delinsGT p.N140V Missense 2/20 - 1
17-78078803-AA-TG c.418_419delinsTG p.N140C Missense 2/20 - 1
17-78078803-A-C c.418A>C p.N140H Missense 2/20 - 1
17-78078803-A-G c.418A>G p.N140D Missense 2/20 - 4
17-78078803-A-T c.418A>T p.N140Y Missense 2/20 - 1
17-78078803-GAA-G c.418_419del p.N140Pfs*5 Frameshift 2/20 - 1
17-78078802-GA-G c.419del p.N140Tfs*2 Frameshift 2/20 - 1
17-78078802-G-GA c.419dup p.N140Kfs*6 Frameshift 2/20 - 1
17-78078803-A-AAAGAAGAAGAAG c.419_420insAGAAGAAGAAGA p.N140delinsKEEED MultiAAMissense 2/20 - 1
17-78078804-A-C c.419A>C p.N140T Missense 2/20 - 2
17-78078804-AC-GG c.419_420delinsGG p.N140R Missense 2/20 - 1
17-78078804-AC-TG c.419_420delinsTG p.N140M Missense 2/20 - 1
17-78078804-A-G c.419A>G p.N140S Missense 2/20 - 3
17-78078804-A-T c.419A>T p.N140I Missense 2/20 - 2
17-78078805-ACCT-A c.420_422del p.N140_L141delinsK MultiAAMissense 2/20 - 1
17-78078805-C-A c.420C>A p.N140K Missense 2/20 - 9
17-78078805-C-CA c.420_421insA p.L141Tfs*5 Frameshift 2/20 - 1
17-78078805-C-G c.420C>G p.N140K Missense 2/20 - 4
17-78078805-C-T c.420C>T p.N140= Synonymous 2/20 - 4
17-78078804-A-AC c.421dup p.L141Pfs*5 Frameshift 2/20 - 2
17-78078804-AC-A c.421del p.L141* Frameshift 2/20 - 2
17-78078806-C-A c.421C>A p.L141M Missense 2/20 - 4
17-78078806-CCT-C c.421_422del p.L141Efs*4 Frameshift 2/20 - 2
17-78078806-C-G c.421C>G p.L141V Missense 2/20 - 3
17-78078806-CTG-ATC c.421_423delinsATC p.L141I Missense 2/20 - 1
17-78078806-CT-TA c.421_422delinsTA p.L141* Nonsense 2/20 - 2
17-78078806-CT-TC c.421_422delinsTC p.L141S Missense 2/20 - 1
17-78078806-C-CT c.422dup p.S142Efs*4 Frameshift 2/20 - 1
17-78078807-CT-C c.422del p.L141Rfs*12 Frameshift 2/20 - 1
17-78078807-T-A c.422T>A p.L141Q Missense 2/20 - 2
17-78078807-T-C c.422T>C p.L141P Missense 2/20 - 4
17-78078806-C-T c.421C>T p.L141= Synonymous 2/20 - 8
17-78078808-G-A c.423G>A p.L141= Synonymous 2/20 - 10
17-78078808-G-C c.423G>C p.L141= Synonymous 2/20 - 5
17-78078808-G-GT c.423_424insT p.S142* Nonsense 2/20 - 2
17-78078808-G-T c.423G>T p.L141= Synonymous 2/20 - 6
17-78078808-TGAG-T c.423_425del p.S144del InFrameDeletion 2/20 - 1
17-78078807-TGAGCTCCTCTGAAATGG-T c.424_440del p.S142Lfs*29 Frameshift 2/20 - 3
17-78078808-G-GA c.424dup p.S142Kfs*4 Frameshift 2/20 - 1
17-78078809-A-ATT c.424_425insTT p.S142Ifs*12 Frameshift 2/20 - 1
17-78078809-A-G c.424A>G p.S142G Missense 2/20 - 2
17-78078809-AG-CC c.424_425delinsCC p.S142P Missense 2/20 - 1
17-78078809-AG-CT c.424_425inv p.S142L Missense 2/20 - 1
17-78078809-AGC-TGA c.424_426delinsTGA p.S142* Nonsense 2/20 - 1
17-78078809-AG-TT c.424_425delinsTT p.S142F Missense 2/20 - 1
17-78078809-A-T c.424A>T p.S142C Missense 2/20 - 3
17-78078809-GA-G c.424del p.S142Afs*11 Frameshift 2/20 - 1
17-78078809-A-AG c.425dup p.S142Rfs*4 Frameshift 2/20 - 1
17-78078810-G-A c.425G>A p.S142N Missense 2/20 - 6
17-78078810-G-C c.425G>C p.S142T Missense 2/20 - 3
17-78078810-G-GGAA c.425_426insGAA p.S142delinsRN MultiAAMissense 2/20 - 1
17-78078809-A-C c.424A>C p.S142R Missense 2/20 - 2
17-78078810-G-GC c.426dup p.S143Lfs*3 Frameshift 2/20 - 1
17-78078811-C-A c.426C>A p.S142R Missense 2/20 - 3
17-78078811-C-CA c.426_427insA p.S143Ifs*3 Frameshift 2/20 - 1
17-78078811-C-CAGG c.426_427insAGG p.S142_S143insR InFrameInsertion 2/20 - 1
17-78078811-C-CGACTCAGACTCG c.426_427insGACTCAGACTCG p.S142_S143insDSDS InFrameInsertion 2/20 - 1
17-78078811-C-G c.426C>G p.S142R Missense 2/20 - 2
17-78078811-C-T c.426C>T p.S142= Synonymous 2/20 - 10
17-78078810-GCT-G c.427_428del p.S143Lfs*2 Frameshift 2/20 - 1
17-78078812-T-A c.427T>A p.S143T Missense 2/20 - 3
17-78078812-T-C c.427T>C p.S143P Missense 2/20 - 7
17-78078812-TC-AA c.427_428delinsAA p.S143N Missense 2/20 - 2
17-78078812-TC-CG c.427_428delinsCG p.S143R Missense 2/20 - 1
17-78078812-T-TATGTTTCTC c.427_428insATGTTTCTC p.S143delinsYVSP MultiAAMissense 2/20 - 1
17-78078813-C-A c.428C>A p.S143Y Missense 2/20 - 1
17-78078813-C-G c.428C>G p.S143C Missense 2/20 - 1
17-78078813-C-T c.428C>T p.S143F Missense 2/20 - 3
17-78078810-GCTC-G c.429_431del p.S144del InFrameDeletion 2/20 - 1
17-78078812-TC-T c.429del p.S144Lfs*9 Frameshift 2/20 - 1
17-78078812-T-TC c.429dup p.S144Lfs*2 Frameshift 2/20 - 1
17-78078814-C-A c.429C>A p.S143= Synonymous 2/20 - 4
17-78078814-C-G c.429C>G p.S143= Synonymous 2/20 - 3
17-78078814-C-T c.429C>T p.S143= Synonymous 2/20 - 4
17-78078815-CT-C c.430del p.S144Lfs*9 Frameshift 2/20 - 2
17-78078815-T-A c.430T>A p.S144T Missense 2/20 - 1
17-78078815-T-C c.430T>C p.S144P Missense 2/20 - 3
17-78078815-TC-AA c.430_431delinsAA p.S144N Missense 2/20 - 1
17-78078815-TC-CG c.430_431delinsCG p.S144R Missense 2/20 - 1
17-78078815-TC-GG c.430_431delinsGG p.S144G Missense 2/20 - 1
17-78078815-T-G c.430T>G p.S144A Missense 2/20 - 2
17-78078815-T-TC c.431dup p.E145* Nonsense 2/20 - 1
17-78078816-C-A c.431C>A p.S144Y Missense 2/20 - 1
17-78078816-C-G c.431C>G p.S144C Missense 2/20 - 5
17-78078816-C-T c.431C>T p.S144F Missense 2/20 - 5
17-78078816-CT-AA c.431_432delinsAA p.S144* Nonsense 2/20 - 1
17-78078815-TCTGAAATGGGCTACACGGCCA-T c.432_452del p.E145_T151del InFrameDeletion 2/20 - 1
17-78078816-C-CT c.432dup p.E145* Nonsense 2/20 - 4
17-78078817-CT-C c.432del p.E145Kfs*8 Frameshift 2/20 - 2
17-78078817-CTGA-C c.432_434del p.E145del InFrameDeletion 2/20 - 1
17-78078817-T-A c.432T>A p.S144= Synonymous 2/20 - 6
17-78078817-T-C c.432T>C p.S144= Synonymous 2/20 - 9
17-78078817-T-G c.432T>G p.S144= Synonymous 2/20 - 5
17-78078817-T-TG c.433dup p.E145Gfs*32 Frameshift 2/20 - 1
17-78078818-G-A c.433G>A p.E145K Missense 2/20 - 10
17-78078818-GA-AC c.433_434delinsAC p.E145T Missense 2/20 - 1
17-78078818-GA-CC c.433_434delinsCC p.E145P Missense 2/20 - 1
17-78078818-G-C c.433G>C p.E145Q Missense 2/20 - 3
17-78078818-G-T c.433G>T p.E145* Nonsense 2/20 - 1
17-78078818-TGAAATGGGCTACACGGCC-T c.433_450del p.E145_A150del InFrameDeletion 2/20 - 1
17-78078818-TGAA-T c.433_435del p.E145del InFrameDeletion 2/20 - 1
17-78078818-TGA-T c.433_434del p.E145Nfs*31 Frameshift 2/20 - 1
17-78078818-TG-T c.433del p.E145Kfs*8 Frameshift 2/20 - 1
17-78078819-A-AT c.434_435insT p.E145Dfs*32 Frameshift 2/20 - 1
17-78078819-A-C c.434A>C p.E145A Missense 2/20 - 4
17-78078819-A-G c.434A>G p.E145G Missense 2/20 - 4
17-78078819-A-T c.434A>T p.E145V Missense 2/20 - 2
17-78078818-GAA-G c.435_436del p.E145Dfs*31 Frameshift 2/20 - 1
17-78078820-A-C c.435A>C p.E145D Missense 2/20 - 6
17-78078820-A-G c.435A>G p.E145= Synonymous 2/20 - 6
17-78078820-A-T c.435A>T p.E145D Missense 2/20 - 4
17-78078818-GA-G c.436del p.M146Wfs*7 Frameshift 2/20 - 2
17-78078818-G-GA c.436dup p.M146Nfs*31 Frameshift 2/20 - 3
17-78078819-AAATGGGCTAC-A c.436_445del p.M146Rfs*4 Frameshift 2/20 - 1
17-78078821-AATGGGCTACACGG-A c.436_448del p.M146Pfs*3 Frameshift 2/20 - 1
17-78078821-A-C c.436A>C p.M146L Missense 2/20 - 1
17-78078821-A-G c.436A>G p.M146V Missense 2/20 - 6
17-78078822-AT-A c.437del p.M146Rfs*7 Frameshift 2/20 - 10
17-78078822-T-C c.437T>C p.M146T Missense 2/20 - 3
17-78078822-T-G c.437T>G p.M146R Missense 2/20 - 1
17-78078821-A-ATGATCGGAAGAGCACACG c.438_439insATCGGAAGAGCACACGTG p.M146_G147insIGRAHV InFrameInsertion 2/20 - 1
17-78078823-G-A c.438G>A p.M146I Missense 2/20 - 3
17-78078823-G-T c.438G>T p.M146I Missense 2/20 - 2
17-78078824-G-A c.439G>A p.G147S Missense 2/20 - 7
17-78078824-GGGCTACACGGCCACCCTGACCCGTACCACCC-G c.439_469del p.G147Pfs*9 Frameshift 2/20 - 1
17-78078824-G-T c.439G>T p.G147C Missense 2/20 - 3
17-78078822-TG-T c.440del p.G147Afs*6 Frameshift 2/20 - 1
17-78078822-T-TG c.440dup p.Y148Lfs*29 Frameshift 2/20 - 1
17-78078825-G-A c.440G>A p.G147D Missense 2/20 - 8
17-78078825-G-C c.440G>C p.G147A Missense 2/20 - 3
17-78078825-GC-AG c.440_441delinsAG p.G147E Missense 2/20 - 1
17-78078825-GGCTACACGGCCACCCTGACCCGTACCACCCCCAC-G c.440_473del p.G147Afs*8 Frameshift 2/20 - 1
17-78078825-G-T c.440G>T p.G147V Missense 2/20 - 6
17-78078825-G-GC c.441dup p.Y148Lfs*29 Frameshift 2/20 - 1
17-78078826-C-A c.441C>A p.G147= Synonymous 2/20 - 7
17-78078826-C-G c.441C>G p.G147= Synonymous 2/20 - 7
17-78078826-C-T c.441C>T p.G147= Synonymous 2/20 - 8
17-78078825-GCTA-G c.442_444del p.Y148del InFrameDeletion 2/20 - 1
17-78078827-TA-GC c.442_443delinsGC p.Y148A Missense 2/20 - 1
17-78078827-T-C c.442T>C p.Y148H Missense 2/20 - 5
17-78078827-T-G c.442T>G p.Y148D Missense 2/20 - 2
17-78078828-A-G c.443A>G p.Y148C Missense 2/20 - 1
17-78078828-A-T c.443A>T p.Y148F Missense 2/20 - 1
17-78078828-TA-T c.443del p.Y148Sfs*5 Frameshift 2/20 - 1
17-78078829-C-A c.444C>A p.Y148* Nonsense 2/20 - 3
17-78078829-C-CG c.444_445insG p.T149Dfs*28 Frameshift 2/20 - 1
17-78078829-C-CGCTGCTGCTGCTGCT c.444_445insGCTGCTGCTGCTGCT p.Y148_T149insAAAAA InFrameInsertion 2/20 - 1
17-78078829-C-G c.444C>G p.Y148* Nonsense 2/20 - 2
17-78078829-C-T c.444C>T p.Y148= Synonymous 2/20 - 3
17-78078829-C-CA c.445dup p.T149Nfs*28 Frameshift 2/20 - 1
17-78078829-C-CAGTAGT c.445_446insGTAGTA p.Y148_T149insSS InFrameInsertion 2/20 - 1
17-78078829-C-CATTT c.445_446insTTTA p.T149Ifs*29 Frameshift 2/20 - 1
17-78078830-A-C c.445A>C p.T149P Missense 2/20 - 3
17-78078830-A-G c.445A>G p.T149A Missense 2/20 - 6
17-78078830-A-T c.445A>T p.T149S Missense 2/20 - 1
17-78078830-A-AC c.446dup p.A150Gfs*27 Frameshift 2/20 - 1
17-78078831-AC-A c.446del p.T149Rfs*4 Frameshift 2/20 - 1
17-78078831-C-A c.446C>A p.T149K Missense 2/20 - 1
17-78078831-CG-AC c.446_447delinsAC p.T149N Missense 2/20 - 2
17-78078831-CG-TC c.446_447delinsTC p.T149I Missense 2/20 - 2
17-78078831-C-T c.446C>T p.T149M Missense 2/20 - 5
17-78078832-G-A c.447G>A p.T149= Synonymous 2/20 - 15
17-78078832-G-C c.447G>C p.T149= Synonymous 2/20 - 6
17-78078832-G-T c.447G>T p.T149= Synonymous 2/20 - 6
17-78078831-C-CG c.448dup p.A150Gfs*27 Frameshift 2/20 - 2
17-78078833-G-A c.448G>A p.A150T Missense 2/20 - 3
17-78078833-GC-AA c.448_449delinsAA p.A150N Missense 2/20 - 1
17-78078833-GCC-TAA c.448_450delinsTAA p.A150* Nonsense 2/20 - 1
17-78078833-GC-TT c.448_449delinsTT p.A150F Missense 2/20 - 1
17-78078833-GGC-G c.448_449del p.A150Hfs*26 Frameshift 2/20 - 1
17-78078833-G-T c.448G>T p.A150S Missense 2/20 - 2
17-78078834-C-A c.449C>A p.A150D Missense 2/20 - 4
17-78078834-C-G c.449C>G p.A150G Missense 2/20 - 5
17-78078834-C-T c.449C>T p.A150V Missense 2/20 - 8
17-78078833-GC-G c.450del p.T151Pfs*2 Frameshift 2/20 - 2
17-78078833-G-GC c.450dup p.T151Hfs*26 Frameshift 2/20 - 1
17-78078835-C-A c.450C>A p.A150= Synonymous 2/20 - 4
17-78078835-C-G c.450C>G p.A150= Synonymous 2/20 - 6
17-78078835-C-T c.450C>T p.A150= Synonymous 2/20 - 7
17-78078833-GCCA-G c.451_453del p.T151del InFrameDeletion 2/20 - 1
17-78078835-C-CA c.451dup p.T151Nfs*26 Frameshift 2/20 - 1
17-78078836-A-C c.451A>C p.T151P Missense 2/20 - 1
17-78078836-ACC-CAA c.451_453delinsCAA p.T151Q Missense 2/20 - 1
17-78078836-ACC-GAG c.451_453delinsGAG p.T151E Missense 2/20 - 1
17-78078836-AC-GG c.451_452delinsGG p.T151G Missense 2/20 - 1
17-78078836-AC-GT c.451_452inv p.T151V Missense 2/20 - 1
17-78078836-AC-TA c.451_452delinsTA p.T151Y Missense 2/20 - 1
17-78078836-AC-TG c.451_452delinsTG p.T151C Missense 2/20 - 1
17-78078836-AC-TT c.451_452delinsTT p.T151F Missense 2/20 - 1
17-78078836-A-G c.451A>G p.T151A Missense 2/20 - 8
17-78078836-A-T c.451A>T p.T151S Missense 2/20 - 2
17-78078837-ACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGAC-A c.452_510del p.T151Sfs*6 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/20 - 1
17-78078837-C-A c.452C>A p.T151N Missense 2/20 - 1
17-78078837-CC-AG c.452_453delinsAG p.T151K Missense 2/20 - 2
17-78078837-CC-GG c.452_453inv p.T151R Missense 2/20 - 1
17-78078837-CC-TG c.452_453delinsTG p.T151M Missense 2/20 - 3
17-78078837-C-G c.452C>G p.T151S Missense 2/20 - 2
17-78078837-C-T c.452C>T p.T151I Missense 2/20 - 4
17-78078838-C-A c.453C>A p.T151= Synonymous 2/20 - 6
17-78078838-CCCT-C c.453_455del p.L152del InFrameDeletion 2/20 - 1
17-78078838-C-G c.453C>G p.T151= Synonymous 2/20 - 5
17-78078838-C-T c.453C>T p.T151= Synonymous 2/20 - 10
17-78078836-A-AC c.454dup p.L152Pfs*25 Frameshift 2/20 - 1
17-78078839-C-A c.454C>A p.L152M Missense 2/20 - 5
17-78078839-CCT-C c.454_455del p.L152Dfs*24 Frameshift 2/20 - 1
17-78078839-CCTG-C c.454_456del p.L152del InFrameDeletion 2/20 - 1
17-78078839-C-G c.454C>G p.L152V Missense 2/20 - 2
17-78078839-C-T c.454C>T p.L152= Synonymous 2/20 - 2
17-78078839-CTG-ATC c.454_456delinsATC p.L152I Missense 2/20 - 1
17-78078839-CTG-TTT c.454_456delinsTTT p.L152F Missense 2/20 - 4
17-78078839-CT-TA c.454_455delinsTA p.L152* Nonsense 2/20 - 1
17-78078840-CT-C c.455del p.L152Rfs*14 Frameshift 2/20 - 1
17-78078840-T-A c.455T>A p.L152Q Missense 2/20 - 1
17-78078840-T-C c.455T>C p.L152P Missense 2/20 - 3
17-78078840-T-G c.455T>G p.L152R Missense 2/20 - 2
17-78078841-G-A c.456G>A p.L152= Synonymous 2/20 - 5
17-78078841-G-C c.456G>C p.L152= Synonymous 2/20 - 1
17-78078841-G-GGCC c.456_457insGCC p.L152_T153insA InFrameInsertion 2/20 - 1
17-78078841-G-T c.456G>T p.L152= Synonymous 2/20 - 3
17-78078841-TGA-T c.456_457del p.T153Pfs*23 Frameshift 2/20 - 1
17-78078841-TG-T c.456del p.T153Pfs*13 Frameshift 2/20 - 1
17-78078841-G-GA c.457dup p.T153Nfs*24 Frameshift 2/20 - 1
17-78078842-A-C c.457A>C p.T153P Missense 2/20 - 1
17-78078842-A-G c.457A>G p.T153A Missense 2/20 - 2
17-78078842-A-T c.457A>T p.T153S Missense 2/20 - 2
17-78078843-C-A c.458C>A p.T153N Missense 2/20 - 1
17-78078843-CC-AG c.458_459delinsAG p.T153K Missense 2/20 - 1
17-78078843-CC-TG c.458_459delinsTG p.T153M Missense 2/20 - 1
17-78078843-C-G c.458C>G p.T153S Missense 2/20 - 3
17-78078843-C-T c.458C>T p.T153I Missense 2/20 - 2
17-78078844-C-A c.459C>A p.T153= Synonymous 2/20 - 4
17-78078844-C-G c.459C>G p.T153= Synonymous 2/20 - 5
17-78078844-C-T c.459C>T p.T153= Synonymous 2/20 - 9
17-78078841-GACCCGT-G c.460_465del p.R154_T155del InFrameDeletion 2/20 - 1
17-78078842-A-AC c.460dup p.R154Pfs*23 Frameshift 2/20 - 1
17-78078845-C-A c.460C>A p.R154S Missense 2/20 - 1
17-78078845-C-G c.460C>G p.R154G Missense 2/20 - 3
17-78078845-CG-AC c.460_461delinsAC p.R154T Missense 2/20 - 1
17-78078845-CGT-AAG c.460_462delinsAAG p.R154K Missense 2/20 - 1
17-78078845-CGT-ATG c.460_462delinsATG p.R154M Missense 2/20 - 1
17-78078845-CGT-TGA c.460_462delinsTGA p.R154* Nonsense 2/20 - 1
17-78078845-CGT-TGG c.460_462delinsTGG p.R154W Missense 2/20 - 3
17-78078845-C-T c.460C>T p.R154C Missense 2/20 - 5
17-78078841-GACCCGTACC-G c.461_469del p.R154_T156del InFrameDeletion 2/20 - 2
17-78078845-C-CG c.461dup p.T155Yfs*22 Frameshift 2/20 - 1
17-78078846-CG-C c.461del p.R154Lfs*12 Frameshift 2/20 - 2
17-78078846-G-A c.461G>A p.R154H Missense 2/20 - 7
17-78078846-G-C c.461G>C p.R154P Missense 2/20 - 2
17-78078846-G-T c.461G>T p.R154L Missense 2/20 - 6
17-78078846-GT-AA c.461_462delinsAA p.R154Q Missense 2/20 - 2
17-78078846-G-GT c.462dup p.T155Yfs*22 Frameshift 2/20 - 1
17-78078847-GT-G c.462del p.T155Pfs*11 Frameshift 2/20 - 1
17-78078847-T-A c.462T>A p.R154= Synonymous 2/20 - 3
17-78078847-T-C c.462T>C p.R154= Synonymous 2/20 - 2
17-78078847-T-G c.462T>G p.R154= Synonymous 2/20 - 2
17-78078847-T-TA c.463dup p.T155Nfs*22 Frameshift 2/20 - 1
17-78078848-A-C c.463A>C p.T155P Missense 2/20 - 4
17-78078848-AC-CA c.463_464delinsCA p.T155H Missense 2/20 - 1
17-78078848-ACC-CAA c.463_465delinsCAA p.T155Q Missense 2/20 - 1
17-78078848-ACC-GAG c.463_465delinsGAG p.T155E Missense 2/20 - 1
17-78078848-AC-CT c.463_464delinsCT p.T155L Missense 2/20 - 1
17-78078848-ACC-TGG c.463_465delinsTGG p.T155W Missense 2/20 - 1
17-78078848-AC-GA c.463_464delinsGA p.T155D Missense 2/20 - 1
17-78078848-AC-GG c.463_464delinsGG p.T155G Missense 2/20 - 1
17-78078848-AC-GT c.463_464inv p.T155V Missense 2/20 - 1
17-78078848-AC-TA c.463_464delinsTA p.T155Y Missense 2/20 - 1
17-78078848-AC-TG c.463_464delinsTG p.T155C Missense 2/20 - 2
17-78078848-AC-TT c.463_464delinsTT p.T155F Missense 2/20 - 1
17-78078848-A-G c.463A>G p.T155A Missense 2/20 - 6
17-78078848-TA-T c.463del p.T155Pfs*11 Frameshift 2/20 - 1
17-78078847-TACCACCCCCACCTTCTTCCCC-T c.464_484del p.T155_P161del InFrameDeletion 2/20 - 1
17-78078848-A-ACTT c.464_465insTTC p.T155_T156insS InFrameInsertion 2/20 - 1