EGR1

EGR1 early growth response 1

Annotation transcript: NM_001964.3

8350 unique variant annotations were identified in 5588 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
5-137801450-G-GA c.1dup p.M1? CdsStartInsertion 1/2 - 1
5-137801451-A-C c.1A>C p.M1? Missense 1/2 - 2
5-137801451-A-G c.1A>G p.M1? Missense 1/2 - 12
5-137801451-A-T c.1A>T p.M1? Missense 1/2 - 4
5-137801451-GA-G c.1del p.M1? CdsStartDeletion 1/2 - 6
5-137801451-GAT-G c.1_2del p.M1? CdsStartDeletion 1/2 - 1
5-137801451-GATGGCCGCGGCCAAGGCCGAGATGCAGCTGATGTCCCCGCTGCAGATCTCTGACCCGTT-G c.1_59del p.M1_?20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 1/2 - 1
5-137801452-T-A c.2T>A p.M1? Missense 1/2 - 7
5-137801452-T-C c.2T>C p.M1? Missense 1/2 - 17
5-137801452-T-G c.2T>G p.M1? Missense 1/2 - 3
5-137801453-G-A c.3G>A p.M1? Missense 1/2 - 20
5-137801453-G-C c.3G>C p.M1? Missense 1/2 - 5
5-137801453-G-GAT c.3_4insAT p.A2Mfs*10 Frameshift 1/2 - 1
5-137801453-G-T c.3G>T p.M1? Missense 1/2 - 9
5-137801452-TG-T c.4del p.A2Pfs*9 CdsStartDeletion 1/2 - 2
5-137801454-G-A c.4G>A p.A2T Missense 1/2 - 13
5-137801454-G-C c.4G>C p.A2P Missense 1/2 - 3
5-137801454-GC-AT c.4_5delinsAT p.A2I Missense 1/2 - 1
5-137801454-GCC-AAG c.4_6delinsAAG p.A2K Missense 1/2 - 1
5-137801454-G-T c.4G>T p.A2S Missense 1/2 - 8
5-137801455-C-A c.5C>A p.A2D Missense 1/2 - 5
5-137801455-CC-AG c.5_6delinsAG p.A2E Missense 1/2 - 3
5-137801455-C-G c.5C>G p.A2G Missense 1/2 - 8
5-137801455-C-T c.5C>T p.A2V Missense 1/2 - 17
5-137801454-GC-G c.6del p.A3Rfs*8 Frameshift 1/2 - 1
5-137801456-C-A c.6C>A p.A2= Synonymous 1/2 - 33
5-137801456-C-CCTTGGTGCA c.6_7insCTTGGTGCA p.A2_A3insLGA InFrameInsertion 1/2 - 1
5-137801456-C-G c.6C>G p.A2= Synonymous 1/2 - 33
5-137801456-C-T c.6C>T p.A2= Synonymous 1/2 - 36
5-137801452-TGGCCGC-T c.7_12del p.A3_A4del InFrameDeletion 1/2 - 1
5-137801457-CG-C c.7del p.A3Rfs*8 Frameshift 1/2 - 1
5-137801457-G-A c.7G>A p.A3T Missense 1/2 - 12
5-137801457-G-C c.7G>C p.A3P Missense 1/2 - 6
5-137801457-GC-AG c.7_8delinsAG p.A3R Missense 1/2 - 1
5-137801457-G-GA c.7_8insA p.A3Dfs*16 Frameshift 1/2 - 1
5-137801457-G-T c.7G>T p.A3S Missense 1/2 - 3
5-137801455-CCG-C c.8_9del p.A3Gfs*15 Frameshift 1/2 - 1
5-137801458-C-A c.8C>A p.A3E Missense 1/2 - 7
5-137801458-C-G c.8C>G p.A3G Missense 1/2 - 6
5-137801458-CG-AC c.8_9delinsAC p.A3D Missense 1/2 - 2
5-137801458-C-T c.8C>T p.A3V Missense 1/2 - 24
5-137801457-GCGGCCAAGGCCGAGATGCAGCTGATGT-G c.9_35del p.A4_S12del InFrameDeletion 1/2 - 1
5-137801459-G-A c.9G>A p.A3= Synonymous 1/2 - 31
5-137801459-G-C c.9G>C p.A3= Synonymous 1/2 - 24
5-137801459-G-GAGCAGAAGGAT c.9_10insAGCAGAAGGAT p.A4Sfs*11 Frameshift 1/2 - 1
5-137801459-G-T c.9G>T p.A3= Synonymous 1/2 - 23
5-137801458-CG-C c.10del p.A4Pfs*7 Frameshift 1/2 - 3
5-137801460-G-A c.10G>A p.A4T Missense 1/2 - 19
5-137801460-G-C c.10G>C p.A4P Missense 1/2 - 4
5-137801460-GCC-TAA c.10_12delinsTAA p.A4* Nonsense 1/2 - 2
5-137801460-GGC-G c.10_11del p.A4Qfs*14 Frameshift 1/2 - 1
5-137801460-G-T c.10G>T p.A4S Missense 1/2 - 6
5-137801461-C-A c.11C>A p.A4D Missense 1/2 - 5
5-137801461-CC-AG c.11_12delinsAG p.A4E Missense 1/2 - 1
5-137801461-C-G c.11C>G p.A4G Missense 1/2 - 4
5-137801461-C-T c.11C>T p.A4V Missense 1/2 - 12
5-137801461-GCCAAGGCCGAGATGCAGCTGATGTCCCCGCTGCAGATCTCTGACCCGTTC-G c.11_60del p.A4Gfs*14 Frameshift 1/2 - 1
5-137801462-C-A c.12C>A p.A4= Synonymous 1/2 - 29
5-137801462-C-CCCGCCCCCGGCCCGCCCAGCACCTGACTCCCGCGGGCCGCTGGGGGTCCGCGCACACCCGAGCAGCTGCGCGGAGCACGGCCCATG c.12_13insCCGCCCCCGGCCCGCCCAGCACCTGACTCCCGCGGGCCGCTGGGGGTCCGCGCACACCCGAGCAGCTGCGCGGAGCACGGCCCATG p.K5Pfs*29 Frameshift 1/2 - 1
5-137801462-C-CT c.12_13insT p.K5* Nonsense 1/2 - 2
5-137801462-C-G c.12C>G p.A4= Synonymous 1/2 - 25
5-137801462-C-T c.12C>T p.A4= Synonymous 1/2 - 29
5-137801463-A-C c.13A>C p.K5Q Missense 1/2 - 5
5-137801463-A-G c.13A>G p.K5E Missense 1/2 - 4
5-137801463-A-T c.13A>T p.K5* Nonsense 1/2 - 3
5-137801463-CAA-C c.13_14del p.K5Gfs*13 Frameshift 1/2 - 1
5-137801463-CAAG-C c.13_15del p.K5del InFrameDeletion 1/2 - 1
5-137801462-CA-C c.14del p.K5Rfs*6 Frameshift 1/2 - 2
5-137801464-AAG-A c.14_15del p.K5Sfs*13 Frameshift 1/2 - 1
5-137801464-A-C c.14A>C p.K5T Missense 1/2 - 4
5-137801464-A-G c.14A>G p.K5R Missense 1/2 - 8
5-137801464-A-T c.14A>T p.K5M Missense 1/2 - 2
5-137801465-G-A c.15G>A p.K5= Synonymous 1/2 - 16
5-137801465-G-C c.15G>C p.K5N Missense 1/2 - 7
5-137801465-G-T c.15G>T p.K5N Missense 1/2 - 8
5-137801464-A-AG c.16dup p.A6Gfs*13 Frameshift 1/2 - 1
5-137801464-AG-A c.16del p.A6Pfs*5 Frameshift 1/2 - 2
5-137801466-G-A c.16G>A p.A6T Missense 1/2 - 15
5-137801466-G-C c.16G>C p.A6P Missense 1/2 - 3
5-137801466-G-T c.16G>T p.A6S Missense 1/2 - 4
5-137801465-GGCC-G c.17_19del p.A6del InFrameDeletion 1/2 - 1
5-137801467-C-A c.17C>A p.A6D Missense 1/2 - 7
5-137801467-CC-AG c.17_18delinsAG p.A6E Missense 1/2 - 1
5-137801467-C-G c.17C>G p.A6G Missense 1/2 - 5
5-137801467-C-T c.17C>T p.A6V Missense 1/2 - 16
5-137801466-GC-G c.18del p.E7Rfs*4 Frameshift 1/2 - 3
5-137801468-C-A c.18C>A p.A6= Synonymous 1/2 - 20
5-137801468-C-CTGCA c.18_19insTGCA p.E7Cfs*13 Frameshift 1/2 - 1
5-137801468-C-CTGG c.18_19insTGG p.A6_E7insW InFrameInsertion 1/2 - 1
5-137801468-C-G c.18C>G p.A6= Synonymous 1/2 - 17
5-137801468-C-T c.18C>T p.A6= Synonymous 1/2 - 23
5-137801469-G-A c.19G>A p.E7K Missense 1/2 - 17
5-137801469-G-C c.19G>C p.E7Q Missense 1/2 - 5
5-137801469-G-T c.19G>T p.E7* Nonsense 1/2 - 8
5-137801470-A-C c.20A>C p.E7A Missense 1/2 - 3
5-137801470-A-G c.20A>G p.E7G Missense 1/2 - 6
5-137801470-A-T c.20A>T p.E7V Missense 1/2 - 2
5-137801470-GA-G c.20del p.E7Gfs*4 Frameshift 1/2 - 2
5-137801468-CGA-C c.21_22del p.E7Dfs*11 Frameshift 1/2 - 1
5-137801471-AG-A c.21del p.M8Cfs*3 Frameshift 1/2 - 1
5-137801471-G-A c.21G>A p.E7= Synonymous 1/2 - 15
5-137801471-G-C c.21G>C p.E7D Missense 1/2 - 5
5-137801471-G-T c.21G>T p.E7D Missense 1/2 - 5
5-137801472-A-C c.22A>C p.M8L Missense 1/2 - 5
5-137801472-A-G c.22A>G p.M8V Missense 1/2 - 5
5-137801472-A-T c.22A>T p.M8L Missense 1/2 - 6
5-137801472-GA-G c.22del p.M8Cfs*3 Frameshift 1/2 - 1
5-137801472-GAT-G c.22_23del p.M8Afs*10 Frameshift 1/2 - 1
5-137801472-GATGCAGCTGATGTCC-G c.22_36del p.M8_S12del InFrameDeletion 1/2 - 1
5-137801473-AT-A c.23del p.M8Sfs*3 Frameshift 1/2 - 2
5-137801473-T-A c.23T>A p.M8K Missense 1/2 - 1
5-137801473-T-C c.23T>C p.M8T Missense 1/2 - 14
5-137801473-T-G c.23T>G p.M8R Missense 1/2 - 2
5-137801474-G-A c.24G>A p.M8I Missense 1/2 - 12
5-137801474-G-C c.24G>C p.M8I Missense 1/2 - 11
5-137801474-G-T c.24G>T p.M8I Missense 1/2 - 7
5-137801474-TGC-T c.24_25del p.M8Ifs*10 Frameshift 1/2 - 1
5-137801473-T-TGCTCC c.25_26insTCCGC p.Q9Lfs*4 Frameshift 1/2 - 1
5-137801474-G-GC c.25dup p.Q9Pfs*10 Frameshift 1/2 - 1
5-137801475-C-A c.25C>A p.Q9K Missense 1/2 - 3
5-137801475-CAG-AAC c.25_27delinsAAC p.Q9N Missense 1/2 - 1
5-137801475-CA-GG c.25_26delinsGG p.Q9G Missense 1/2 - 1
5-137801475-CAG-TAT c.25_27delinsTAT p.Q9Y Missense 1/2 - 1
5-137801475-C-G c.25C>G p.Q9E Missense 1/2 - 6
5-137801475-C-T c.25C>T p.Q9* Nonsense 1/2 - 19
5-137801475-GCA-G c.25_26del p.Q9Afs*9 Frameshift 1/2 - 1
5-137801475-GC-G c.25del p.Q9Sfs*2 Frameshift 1/2 - 1
5-137801473-TGCA-T c.26_28del p.Q9del InFrameDeletion 1/2 - 2
5-137801474-GCAGCTGATGTC-G c.26_36del p.Q9Pfs*6 Frameshift 1/2 - 1
5-137801476-A-C c.26A>C p.Q9P Missense 1/2 - 6
5-137801476-A-G c.26A>G p.Q9R Missense 1/2 - 9
5-137801476-A-T c.26A>T p.Q9L Missense 1/2 - 3
5-137801476-CA-C c.26del p.Q9Rfs*2 Frameshift 1/2 - 2
5-137801476-A-AGGGCCCCG c.27_28insGGCCCCGG p.L10Gfs*4 Frameshift 1/2 - 1
5-137801477-G-A c.27G>A p.Q9= Synonymous 1/2 - 14
5-137801477-G-C c.27G>C p.Q9H Missense 1/2 - 11
5-137801477-G-T c.27G>T p.Q9H Missense 1/2 - 7
5-137801476-AGCT-A c.28_30del p.L10del InFrameDeletion 1/2 - 1
5-137801477-G-GC c.28dup p.L10Pfs*9 Frameshift 1/2 - 1
5-137801477-G-GCC c.28_29insCC p.L10Pfs*2 Frameshift 1/2 - 1
5-137801478-C-A c.28C>A p.L10M Missense 1/2 - 7
5-137801478-C-G c.28C>G p.L10V Missense 1/2 - 16
5-137801478-CT-AA c.28_29delinsAA p.L10K Missense 1/2 - 6
5-137801478-CT-GA c.28_29delinsGA p.L10E Missense 1/2 - 18
5-137801478-CTG-AAC c.28_30delinsAAC p.L10N Missense 1/2 - 1
5-137801478-CTG-ATC c.28_30delinsATC p.L10I Missense 1/2 - 29
5-137801478-CT-GC c.28_29delinsGC p.L10A Missense 1/2 - 41
5-137801478-CTG-TAT c.28_30delinsTAT p.L10Y Missense 1/2 - 2
5-137801478-CTG-TGT c.28_30delinsTGT p.L10C Missense 1/2 - 2
5-137801478-CTG-TTT c.28_30delinsTTT p.L10F Missense 1/2 - 23
5-137801478-CT-TA c.28_29delinsTA p.L10* Nonsense 1/2 - 3
5-137801478-CT-TG c.28_29delinsTG p.L10W Missense 1/2 - 1
5-137801478-GCT-G c.28_29del p.L10Dfs*8 Frameshift 1/2 - 1
5-137801478-GCTGAT-G c.28_32del p.L10Vfs*7 Frameshift 1/2 - 1
5-137801479-CT-C c.29del p.L10Rfs*29 Frameshift 1/2 - 1
5-137801479-CTG-C c.29_30del p.L10Hfs*8 Frameshift 1/2 - 2
5-137801479-T-A c.29T>A p.L10Q Missense 1/2 - 4
5-137801479-T-C c.29T>C p.L10P Missense 1/2 - 24
5-137801479-T-G c.29T>G p.L10R Missense 1/2 - 13
5-137801479-TG-AT c.29_30delinsAT p.L10H Missense 1/2 - 3
5-137801478-C-T c.28C>T p.L10= Synonymous 1/2 - 20
5-137801478-CTGATG-C c.30_34del p.M11Pfs*6 Frameshift 1/2 - 1
5-137801480-G-A c.30G>A p.L10= Synonymous 1/2 - 21
5-137801480-G-C c.30G>C p.L10= Synonymous 1/2 - 15
5-137801480-G-T c.30G>T p.L10= Synonymous 1/2 - 18
5-137801480-TGATGTCCCCGCTGCAGATCTCTGACCCG-T c.30_57del p.M11Sfs*19 Frameshift 1/2 - 1
5-137801480-TGATGTCC-T c.30_36del p.M11Rfs*26 Frameshift 1/2 - 1
5-137801480-TG-T c.30del p.M11Cfs*28 Frameshift 1/2 - 2
5-137801478-CTGA-C c.31_33del p.M11del InFrameDeletion 1/2 - 3
5-137801481-A-ACTTT c.31_32insCTTT p.M11Tfs*9 Frameshift 1/2 - 1
5-137801481-A-C c.31A>C p.M11L Missense 1/2 - 9
5-137801481-A-G c.31A>G p.M11V Missense 1/2 - 15
5-137801481-A-T c.31A>T p.M11L Missense 1/2 - 7
5-137801481-AT-GC c.31_32delinsGC p.M11A Missense 1/2 - 9
5-137801481-AT-GG c.31_32delinsGG p.M11G Missense 1/2 - 1
5-137801481-ATG-GAC c.31_33delinsGAC p.M11D Missense 1/2 - 2
5-137801481-ATG-TGT c.31_33delinsTGT p.M11C Missense 1/2 - 1
5-137801481-ATG-TTT c.31_33delinsTTT p.M11F Missense 1/2 - 1
5-137801481-AT-TG c.31_32delinsTG p.M11W Missense 1/2 - 2
5-137801481-GAT-G c.31_32del p.M11Vfs*7 Frameshift 1/2 - 1
5-137801482-AT-A c.32del p.M11Sfs*28 Frameshift 1/2 - 1
5-137801482-ATGT-A c.32_34del p.M11_S12delinsT MultiAAMissense 1/2 - 1
5-137801482-T-A c.32T>A p.M11K Missense 1/2 - 3
5-137801482-T-C c.32T>C p.M11T Missense 1/2 - 15
5-137801482-T-G c.32T>G p.M11R Missense 1/2 - 3
5-137801483-G-A c.33G>A p.M11I Missense 1/2 - 15
5-137801483-G-C c.33G>C p.M11I Missense 1/2 - 11
5-137801483-G-T c.33G>T p.M11I Missense 1/2 - 11
5-137801483-TG-T c.33del p.M11Ifs*28 Frameshift 1/2 - 1
5-137801484-GTCC-G c.34_36del p.S12del InFrameDeletion 1/2 - 3
5-137801484-GTC-G c.34_35del p.S12Pfs*6 Frameshift 1/2 - 1
5-137801484-T-A c.34T>A p.S12T Missense 1/2 - 8
5-137801484-T-C c.34T>C p.S12P Missense 1/2 - 21
5-137801484-TC-AA c.34_35delinsAA p.S12N Missense 1/2 - 1
5-137801484-TC-AT c.34_35delinsAT p.S12I Missense 1/2 - 2
5-137801484-TC-CA c.34_35delinsCA p.S12H Missense 1/2 - 4
5-137801484-TCC-AAG c.34_36delinsAAG p.S12K Missense 1/2 - 2
5-137801484-TC-CG c.34_35delinsCG p.S12R Missense 1/2 - 6
5-137801484-TCC-GAG c.34_36delinsGAG p.S12E Missense 1/2 - 32
5-137801484-TC-CT c.34_35delinsCT p.S12L Missense 1/2 - 9
5-137801484-TC-GA c.34_35inv p.S12D Missense 1/2 - 51
5-137801484-TC-GG c.34_35delinsGG p.S12G Missense 1/2 - 9
5-137801484-T-G c.34T>G p.S12A Missense 1/2 - 155
5-137801484-T-TACCGGG c.34_35insACCGGG p.S12delinsYRA MultiAAMissense 1/2 - 1
5-137801485-C-A c.35C>A p.S12Y Missense 1/2 - 5
5-137801485-CC-AA c.35_36delinsAA p.S12* Nonsense 1/2 - 5
5-137801485-C-CAAAA c.35_36insAAAA p.P13Kfs*7 Frameshift 1/2 - 1
5-137801485-C-CAAAAAGAAAGAAAGAAAGAAAGAAAA c.35_36insAAAAAGAAAGAAAGAAAGAAAGAAAA p.P13Kfs*35 Frameshift 1/2 - 1
5-137801485-C-CAAAG c.35_36insAAAG p.P13Kfs*7 Frameshift 1/2 - 1
5-137801485-C-CAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA c.35_36insAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA p.S12_P13insKKKKERKKEN InFrameInsertion 1/2 - 1
5-137801485-C-CAAAGAAAGAAAG c.35_36insAAAGAAAGAAAG p.S12_P13insKKES InFrameInsertion 1/2 - 1
5-137801485-CC-GG c.35_36inv p.S12W Missense 1/2 - 4
5-137801485-C-G c.35C>G p.S12C Missense 1/2 - 81
5-137801485-C-T c.35C>T p.S12F Missense 1/2 - 37
5-137801484-TCCC-T c.36_38del p.P13del InFrameDeletion 1/2 - 1
5-137801486-C-A c.36C>A p.S12= Synonymous 1/2 - 15
5-137801486-C-CA c.36_37insA p.P13Tfs*6 Frameshift 1/2 - 2
5-137801486-C-G c.36C>G p.S12= Synonymous 1/2 - 16
5-137801486-C-T c.36C>T p.S12= Synonymous 1/2 - 19
5-137801484-TCC-T c.37_38del p.P13Afs*5 Frameshift 1/2 - 1
5-137801486-C-CCTCTTCATCCACGG c.37_38insTCTTCATCCACGGC p.P13Lfs*31 Frameshift 1/2 - 1
5-137801487-C-A c.37C>A p.P13T Missense 1/2 - 7
5-137801487-CC-AA c.37_38delinsAA p.P13K Missense 1/2 - 83
5-137801487-CC-AT c.37_38delinsAT p.P13M Missense 1/2 - 1
5-137801487-C-CG c.37_38insG p.P13Rfs*6 Frameshift 1/2 - 1
5-137801487-CC-GA c.37_38delinsGA p.P13E Missense 1/2 - 4
5-137801487-CCG-AAC c.37_39delinsAAC p.P13N Missense 1/2 - 1
5-137801487-CCG-ATC c.37_39delinsATC p.P13I Missense 1/2 - 1
5-137801487-CC-GG c.37_38inv p.P13G Missense 1/2 - 1
5-137801487-CCG-GAC c.37_39delinsGAC p.P13D Missense 1/2 - 1
5-137801487-CC-GT c.37_38delinsGT p.P13V Missense 1/2 - 2
5-137801487-CCG-TAT c.37_39delinsTAT p.P13Y Missense 1/2 - 1
5-137801487-CCG-TGT c.37_39delinsTGT p.P13C Missense 1/2 - 5
5-137801487-CCG-TTT c.37_39delinsTTT p.P13F Missense 1/2 - 6
5-137801487-CC-TA c.37_38delinsTA p.P13* Nonsense 1/2 - 1
5-137801487-CC-TG c.37_38delinsTG p.P13W Missense 1/2 - 2
5-137801487-C-G c.37C>G p.P13A Missense 1/2 - 10
5-137801487-C-T c.37C>T p.P13S Missense 1/2 - 19
5-137801484-TC-T c.38del p.P13Rfs*26 Frameshift 1/2 - 2
5-137801484-T-TC c.38dup p.L14Afs*5 Frameshift 1/2 - 2
5-137801486-CCCG-C c.38_40del p.P13del InFrameDeletion 1/2 - 1
5-137801486-CCCGCTGCAGATCTCTGACCCGTTCGGATCCTTTCCTCACTCGCCCACCATGGACAACTA-C c.39_97del p.L14* Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 - 1
5-137801488-C-A c.38C>A p.P13Q Missense 1/2 - 7
5-137801488-C-G c.38C>G p.P13R Missense 1/2 - 6
5-137801488-CG-AT c.38_39delinsAT p.P13H Missense 1/2 - 3
5-137801488-C-T c.38C>T p.P13L Missense 1/2 - 42
5-137801487-CCG-C c.39_40del p.L14Afs*4 Frameshift 1/2 - 1
5-137801488-C-CGTTCGCCAA c.39_40insTTCGCCAAG p.P13_L14insFAK InFrameInsertion 1/2 - 1
5-137801489-CG-C c.39del p.L14Cfs*25 Frameshift 1/2 - 1
5-137801489-G-A c.39G>A p.P13= Synonymous 1/2 - 20
5-137801489-G-C c.39G>C p.P13= Synonymous 1/2 - 16
5-137801489-G-T c.39G>T p.P13= Synonymous 1/2 - 16
5-137801490-C-A c.40C>A p.L14M Missense 1/2 - 7
5-137801490-C-G c.40C>G p.L14V Missense 1/2 - 10
5-137801490-C-T c.40C>T p.L14= Synonymous 1/2 - 20
5-137801490-CT-AA c.40_41delinsAA p.L14K Missense 1/2 - 2
5-137801490-CT-AC c.40_41delinsAC p.L14T Missense 1/2 - 2
5-137801490-CT-GA c.40_41delinsGA p.L14E Missense 1/2 - 5
5-137801490-CTG-AAC c.40_42delinsAAC p.L14N Missense 1/2 - 2
5-137801490-CTG-ATC c.40_42delinsATC p.L14I Missense 1/2 - 6
5-137801490-CT-GC c.40_41delinsGC p.L14A Missense 1/2 - 6
5-137801490-CT-GG c.40_41delinsGG p.L14G Missense 1/2 - 2
5-137801490-CTG-GAC c.40_42delinsGAC p.L14D Missense 1/2 - 2
5-137801490-CTG-TAT c.40_42delinsTAT p.L14Y Missense 1/2 - 2
5-137801490-CTG-TGT c.40_42delinsTGT p.L14C Missense 1/2 - 2
5-137801490-CTG-TTT c.40_42delinsTTT p.L14F Missense 1/2 - 9
5-137801490-CT-TA c.40_41delinsTA p.L14* Nonsense 1/2 - 1
5-137801490-CT-TC c.40_41delinsTC p.L14S Missense 1/2 - 3
5-137801490-CT-TG c.40_41delinsTG p.L14W Missense 1/2 - 2
5-137801490-GC-G c.40del p.L14Cfs*25 Frameshift 1/2 - 1
5-137801490-GCT-G c.40_41del p.L14Afs*4 Frameshift 1/2 - 1
5-137801491-T-A c.41T>A p.L14Q Missense 1/2 - 5
5-137801491-T-C c.41T>C p.L14P Missense 1/2 - 20
5-137801491-T-G c.41T>G p.L14R Missense 1/2 - 9
5-137801491-TG-AT c.41_42delinsAT p.L14H Missense 1/2 - 1
5-137801491-T-TG c.42dup p.Q15Afs*4 Frameshift 1/2 - 2
5-137801492-G-A c.42G>A p.L14= Synonymous 1/2 - 22
5-137801492-G-C c.42G>C p.L14= Synonymous 1/2 - 16
5-137801492-G-T c.42G>T p.L14= Synonymous 1/2 - 18
5-137801492-TG-T c.42del p.Q15Rfs*24 Frameshift 1/2 - 1
5-137801493-C-A c.43C>A p.Q15K Missense 1/2 - 5
5-137801493-CA-AC c.43_44delinsAC p.Q15T Missense 1/2 - 1
5-137801493-CA-GC c.43_44delinsGC p.Q15A Missense 1/2 - 5
5-137801493-CAG-GAC c.43_45delinsGAC p.Q15D Missense 1/2 - 2
5-137801493-CAG-TGT c.43_45delinsTGT p.Q15C Missense 1/2 - 1
5-137801493-C-G c.43C>G p.Q15E Missense 1/2 - 6
5-137801493-C-T c.43C>T p.Q15* Nonsense 1/2 - 20
5-137801493-GCAGATCTCTGACCCGTTCGGATCCTTTCCTCACTCGCCCACCATGGACAACTACCCTAA-G c.43_101del p.Q15Afs*73 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 - 1
5-137801493-C-CAT c.44_45insTA p.Q15Hfs*25 Frameshift 1/2 - 1
5-137801494-A-C c.44A>C p.Q15P Missense 1/2 - 2
5-137801494-A-G c.44A>G p.Q15R Missense 1/2 - 9
5-137801494-A-T c.44A>T p.Q15L Missense 1/2 - 6
5-137801494-CA-C c.44del p.Q15Rfs*24 Frameshift 1/2 - 1
5-137801494-CAGATCTCTGACCCGTTCG-C c.44_61del p.Q15_G21delinsR MultiAAMissense 1/2 - 1
5-137801495-G-A c.45G>A p.Q15= Synonymous 1/2 - 17
5-137801495-G-C c.45G>C p.Q15H Missense 1/2 - 5
5-137801495-G-T c.45G>T p.Q15H Missense 1/2 - 11
5-137801494-AGATCTCTGACCC-A c.46_57del p.I16_P19del InFrameDeletion 1/2 - 1
5-137801495-G-GA c.46dup p.I16Nfs*3 Frameshift 1/2 - 1
5-137801496-A-AG c.46_47insG p.I16Sfs*3 Frameshift 1/2 - 1
5-137801496-A-C c.46A>C p.I16L Missense 1/2 - 13
5-137801496-A-G c.46A>G p.I16V Missense 1/2 - 12
5-137801496-A-T c.46A>T p.I16F Missense 1/2 - 6
5-137801496-ATC-TAA c.46_48delinsTAA p.I16* Nonsense 1/2 - 1
5-137801496-AT-GG c.46_47delinsGG p.I16G Missense 1/2 - 1
5-137801496-GATCT-G c.46_49del p.I16Lfs*22 Frameshift 1/2 - 1
5-137801497-ATCTCTG-A c.47_52del p.I16_D18delinsN MultiAAMissense 1/2 - 1
5-137801497-T-A c.47T>A p.I16N Missense 1/2 - 4
5-137801497-T-C c.47T>C p.I16T Missense 1/2 - 9
5-137801497-T-G c.47T>G p.I16S Missense 1/2 - 3
5-137801497-T-TGGAGG c.47_48insGGAGG p.I16Mfs*25 Frameshift 1/2 - 1
5-137801497-T-TC c.48dup p.S17Lfs*2 Frameshift 1/2 - 1
5-137801498-C-A c.48C>A p.I16= Synonymous 1/2 - 12
5-137801498-C-G c.48C>G p.I16M Missense 1/2 - 8
5-137801498-C-T c.48C>T p.I16= Synonymous 1/2 - 15
5-137801499-T-A c.49T>A p.S17T Missense 1/2 - 7
5-137801499-T-C c.49T>C p.S17P Missense 1/2 - 17
5-137801499-TC-AA c.49_50delinsAA p.S17N Missense 1/2 - 7
5-137801499-TC-AT c.49_50delinsAT p.S17I Missense 1/2 - 2
5-137801499-TC-CA c.49_50delinsCA p.S17H Missense 1/2 - 3
5-137801499-TC-CG c.49_50delinsCG p.S17R Missense 1/2 - 3
5-137801499-TC-CT c.49_50delinsCT p.S17L Missense 1/2 - 3
5-137801499-TC-GA c.49_50inv p.S17D Missense 1/2 - 18
5-137801499-TC-GG c.49_50delinsGG p.S17G Missense 1/2 - 5
5-137801499-TCT-ATG c.49_51delinsATG p.S17M Missense 1/2 - 1
5-137801499-TCT-CAA c.49_51delinsCAA p.S17Q Missense 1/2 - 1
5-137801499-TCT-GAG c.49_51delinsGAG p.S17E Missense 1/2 - 19
5-137801499-T-G c.49T>G p.S17A Missense 1/2 - 73
5-137801499-T-TC c.50dup p.D18* Nonsense 1/2 - 1
5-137801500-C-CG c.50_51insG p.D18* Nonsense 1/2 - 1
5-137801500-C-G c.50C>G p.S17C Missense 1/2 - 40
5-137801500-C-T c.50C>T p.S17F Missense 1/2 - 23
5-137801500-CT-AA c.50_51delinsAA p.S17* Nonsense 1/2 - 2
5-137801500-TC-T c.50del p.S17Lfs*22 Frameshift 1/2 - 1
5-137801500-C-CT c.51dup p.D18* Nonsense 1/2 - 1
5-137801501-T-A c.51T>A p.S17= Synonymous 1/2 - 9
5-137801501-T-C c.51T>C p.S17= Synonymous 1/2 - 15
5-137801501-T-G c.51T>G p.S17= Synonymous 1/2 - 12
5-137801501-T-TCAGCAGCAGCAG c.51_52insCAGCAGCAGCAG p.S17_D18insQQQQ InFrameInsertion 1/2 - 1
5-137801501-T-TG c.52dup p.D18Gfs*17 Frameshift 1/2 - 1
5-137801502-G-A c.52G>A p.D18N Missense 1/2 - 16
5-137801502-GA-AG c.52_53delinsAG p.D18S Missense 1/2 - 2
5-137801502-GA-CT c.52_53delinsCT p.D18L Missense 1/2 - 2
5-137801502-GAC-TAA c.52_54delinsTAA p.D18* Nonsense 1/2 - 3
5-137801502-GAC-TGG c.52_54delinsTGG p.D18W Missense 1/2 - 1
5-137801502-GA-TG c.52_53delinsTG p.D18C Missense 1/2 - 1
5-137801502-GA-TT c.52_53delinsTT p.D18F Missense 1/2 - 5
5-137801502-G-C c.52G>C p.D18H Missense 1/2 - 2
5-137801502-G-GC c.52_53insC p.D18Afs*17 Frameshift 1/2 - 1
5-137801502-G-T c.52G>T p.D18Y Missense 1/2 - 9
5-137801501-TGACCCGTTC-T c.53_61del p.D18_F20del InFrameDeletion 1/2 - 1
5-137801502-G-GA c.53dup p.D18Efs*17 Frameshift 1/2 - 1
5-137801503-A-C c.53A>C p.D18A Missense 1/2 - 13
5-137801503-A-G c.53A>G p.D18G Missense 1/2 - 15
5-137801503-A-T c.53A>T p.D18V Missense 1/2 - 6
5-137801503-A-ACGCC c.54_55insGCCC p.P19Afs*17 Frameshift 1/2 - 1
5-137801504-C-A c.54C>A p.D18E Missense 1/2 - 8
5-137801504-C-CTGGAGTA c.54_55insTGGAGTA p.P19Wfs*18 Frameshift 1/2 - 1
5-137801504-C-G c.54C>G p.D18E Missense 1/2 - 8
5-137801504-C-T c.54C>T p.D18= Synonymous 1/2 - 15
5-137801505-C-A c.55C>A p.P19T Missense 1/2 - 5
5-137801505-CC-GG c.55_56inv p.P19G Missense 1/2 - 1
5-137801505-CC-GT c.55_56delinsGT p.P19V Missense 1/2 - 1
5-137801505-CCG-TTT c.55_57delinsTTT p.P19F Missense 1/2 - 2
5-137801505-CC-TA c.55_56delinsTA p.P19* Nonsense 1/2 - 1
5-137801505-CC-TG c.55_56delinsTG p.P19W Missense 1/2 - 1
5-137801505-C-G c.55C>G p.P19A Missense 1/2 - 15
5-137801505-C-T c.55C>T p.P19S Missense 1/2 - 28
5-137801503-AC-A c.56del p.P19Rfs*20 Frameshift 1/2 - 2
5-137801506-C-A c.56C>A p.P19Q Missense 1/2 - 4
5-137801506-C-CT c.56_57insT p.F20Vfs*15 Frameshift 1/2 - 1
5-137801506-C-G c.56C>G p.P19R Missense 1/2 - 5
5-137801506-CG-AT c.56_57delinsAT p.P19H Missense 1/2 - 1
5-137801506-C-T c.56C>T p.P19L Missense 1/2 - 13
5-137801507-CGT-C c.57_58del p.F20Rfs*14 Frameshift 1/2 - 1
5-137801507-G-A c.57G>A p.P19= Synonymous 1/2 - 11
5-137801507-G-C c.57G>C p.P19= Synonymous 1/2 - 11
5-137801507-G-GCC c.57_58insCC p.F20Pfs*20 Frameshift 1/2 - 1
5-137801507-G-T c.57G>T p.P19= Synonymous 1/2 - 9
5-137801508-T-A c.58T>A p.F20I Missense 1/2 - 5
5-137801508-T-C c.58T>C p.F20L Missense 1/2 - 17
5-137801508-T-G c.58T>G p.F20V Missense 1/2 - 5
5-137801508-TT-AC c.58_59delinsAC p.F20T Missense 1/2 - 1
5-137801508-T-TAGG c.58_59insAGG p.F20delins* Nonsense 1/2 - 1
5-137801508-T-TC c.58_59insC p.F20Sfs*15 Frameshift 1/2 - 1
5-137801508-TT-CC c.58_59delinsCC p.F20P Missense 1/2 - 1
5-137801508-TTC-CAA c.58_60delinsCAA p.F20Q Missense 1/2 - 2
5-137801508-TT-CG c.58_59delinsCG p.F20R Missense 1/2 - 1
5-137801508-TT-GC c.58_59delinsGC p.F20A Missense 1/2 - 1
5-137801510-C-G c.60C>G p.F20L Missense 1/2 - 10
5-137801507-GT-G c.59del p.F20Sfs*19 Frameshift 1/2 - 1
5-137801509-T-A c.59T>A p.F20Y Missense 1/2 - 4
5-137801509-T-C c.59T>C p.F20S Missense 1/2 - 10
5-137801509-TC-AA c.59_60delinsAA p.F20* Nonsense 1/2 - 7
5-137801509-TC-GG c.59_60delinsGG p.F20W Missense 1/2 - 2
5-137801509-T-G c.59T>G p.F20C Missense 1/2 - 7
5-137801510-C-A c.60C>A p.F20L Missense 1/2 - 18
5-137801510-C-T c.60C>T p.F20= Synonymous 1/2 - 18
5-137801511-CGGA-C c.61_63del p.G21del InFrameDeletion 1/2 - 1
5-137801511-CGGATCCTTTCCTCACTCGCCCACCATGGACAACTACCCTAAGCTGGAGGAGATGATGCT-C c.62_120del p.G21Afs*67 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 - 1
5-137801511-G-A c.61G>A p.G21R Missense 1/2 - 19
5-137801511-G-C c.61G>C p.G21R Missense 1/2 - 9
5-137801511-GG-AA c.61_62delinsAA p.G21K Missense 1/2 - 2
5-137801511-GGA-AGC c.61_63delinsAGC p.G21S Missense 1/2 - 7
5-137801511-GGA-ATG c.61_63delinsATG p.G21M Missense 1/2 - 2
5-137801511-GG-AC c.61_62delinsAC p.G21T Missense 1/2 - 1
5-137801511-GGA-CAT c.61_63delinsCAT p.G21H Missense 1/2 - 2
5-137801511-GGA-TGG c.61_63delinsTGG p.G21W Missense 1/2 - 2
5-137801511-GGA-TGT c.61_63delinsTGT p.G21C Missense 1/2 - 3
5-137801511-GGA-TTT c.61_63delinsTTT p.G21F Missense 1/2 - 2
5-137801511-G-T c.61G>T p.G21* Nonsense 1/2 - 10
5-137801510-C-CG c.62dup p.S22Ifs*13 Frameshift 1/2 - 2
5-137801510-CG-C c.62del p.G21Dfs*18 Frameshift 1/2 - 1
5-137801512-G-A c.62G>A p.G21E Missense 1/2 - 25
5-137801512-GA-AC c.62_63delinsAC p.G21D Missense 1/2 - 7
5-137801512-G-C c.62G>C p.G21A Missense 1/2 - 8
5-137801512-GGATCCTT-G c.62_68del p.G21Vfs*16 Frameshift 1/2 - 1
5-137801512-G-T c.62G>T p.G21V Missense 1/2 - 11
5-137801513-A-C c.63A>C p.G21= Synonymous 1/2 - 14
5-137801513-A-G c.63A>G p.G21= Synonymous 1/2 - 20
5-137801513-A-T c.63A>T p.G21= Synonymous 1/2 - 14
5-137801513-A-AT c.64dup p.S22Ffs*13 Frameshift 1/2 - 1
5-137801514-T-A c.64T>A p.S22T Missense 1/2 - 3
5-137801514-T-C c.64T>C p.S22P Missense 1/2 - 9
5-137801514-TC-AA c.64_65delinsAA p.S22N Missense 1/2 - 4
5-137801514-TC-AT c.64_65delinsAT p.S22I Missense 1/2 - 1
5-137801514-TC-CA c.64_65delinsCA p.S22H Missense 1/2 - 2
5-137801514-TC-CG c.64_65delinsCG p.S22R Missense 1/2 - 6
5-137801514-TCC-GAG c.64_66delinsGAG p.S22E Missense 1/2 - 2
5-137801514-TC-CT c.64_65delinsCT p.S22L Missense 1/2 - 5
5-137801514-TC-GA c.64_65inv p.S22D Missense 1/2 - 11
5-137801514-TC-GG c.64_65delinsGG p.S22G Missense 1/2 - 5
5-137801514-T-G c.64T>G p.S22A Missense 1/2 - 43
5-137801514-T-TACGGGG c.64_65insACGGGG p.S22delinsYGA MultiAAMissense 1/2 - 1
5-137801515-C-A c.65C>A p.S22Y Missense 1/2 - 7
5-137801515-CC-AA c.65_66delinsAA p.S22* Nonsense 1/2 - 3
5-137801515-C-G c.65C>G p.S22C Missense 1/2 - 20
5-137801515-C-T c.65C>T p.S22F Missense 1/2 - 24
5-137801514-TC-T c.66del p.P24Lfs*15 Frameshift 1/2 - 1
5-137801516-C-A c.66C>A p.S22= Synonymous 1/2 - 11
5-137801516-CCT-C c.66_67del p.F23Sfs*11 Frameshift 1/2 - 1
5-137801516-C-G c.66C>G p.S22= Synonymous 1/2 - 11
5-137801516-C-T c.66C>T p.S22= Synonymous 1/2 - 19
5-137801517-CTTTCCTCACTCGCCCACCATGGACAACTACCCTAAGCTGGAGGAGATGATGCTGCTGAG-C c.67_125del p.F23Qfs*65 InFrameDeletion 1/2 - 1
5-137801517-T-A c.67T>A p.F23I Missense 1/2 - 6
5-137801517-T-C c.67T>C p.F23L Missense 1/2 - 13
5-137801517-T-G c.67T>G p.F23V Missense 1/2 - 5
5-137801517-T-TA c.67_68insA p.F23Yfs*12 Frameshift 1/2 - 1
5-137801517-TT-AA c.67_68inv p.F23N Missense 1/2 - 1
5-137801517-TT-CA c.67_68delinsCA p.F23H Missense 1/2 - 2
5-137801517-TT-CG c.67_68delinsCG p.F23R Missense 1/2 - 3
5-137801517-TT-GA c.67_68delinsGA p.F23D Missense 1/2 - 5
5-137801517-TT-GC c.67_68delinsGC p.F23A Missense 1/2 - 8
5-137801517-TT-GG c.67_68delinsGG p.F23G Missense 1/2 - 3
5-137801517-TTT-AAG c.67_69delinsAAG p.F23K Missense 1/2 - 2
5-137801517-TTT-ATG c.67_69delinsATG p.F23M Missense 1/2 - 2
5-137801517-TTT-CAA c.67_69delinsCAA p.F23Q Missense 1/2 - 1
5-137801517-TTT-GAG c.67_69delinsGAG p.F23E Missense 1/2 - 3
5-137801519-T-G c.69T>G p.F23L Missense 1/2 - 8
5-137801513-ATCCTT-A c.68_72del p.F23Sfs*10 Frameshift 1/2 - 1
5-137801516-CTT-C c.68_69del p.F23Sfs*11 Frameshift 1/2 - 1
5-137801518-T-A c.68T>A p.F23Y Missense 1/2 - 4
5-137801518-T-C c.68T>C p.F23S Missense 1/2 - 7
5-137801518-T-G c.68T>G p.F23C Missense 1/2 - 12
5-137801518-TT-AA c.68_69inv p.F23* Nonsense 1/2 - 1
5-137801516-CT-C c.69del p.P24Lfs*15 Frameshift 1/2 - 1
5-137801519-T-A c.69T>A p.F23L Missense 1/2 - 7
5-137801519-T-C c.69T>C p.F23= Synonymous 1/2 - 14
5-137801520-C-A c.70C>A p.P24T Missense 1/2 - 11
5-137801520-CC-GG c.70_71inv p.P24G Missense 1/2 - 2
5-137801520-CCT-AAG c.70_72delinsAAG p.P24K Missense 1/2 - 1
5-137801520-CCT-ATG c.70_72delinsATG p.P24M Missense 1/2 - 1
5-137801520-CCT-GAG c.70_72delinsGAG p.P24E Missense 1/2 - 7
5-137801520-CCT-TAA c.70_72delinsTAA p.P24* Nonsense 1/2 - 1
5-137801520-C-G c.70C>G p.P24A Missense 1/2 - 9
5-137801520-C-T c.70C>T p.P24S Missense 1/2 - 23
5-137801519-TC-T c.71del p.P24Lfs*15 Frameshift 1/2 - 1
5-137801521-C-A c.71C>A p.P24H Missense 1/2 - 8
5-137801521-C-G c.71C>G p.P24R Missense 1/2 - 8
5-137801521-C-T c.71C>T p.P24L Missense 1/2 - 24
5-137801521-CT-AA c.71_72delinsAA p.P24Q Missense 1/2 - 2
5-137801521-C-CT c.72dup p.H25Sfs*10 Frameshift 1/2 - 1
5-137801522-CT-C c.72del p.H25Tfs*14 Frameshift 1/2 - 4
5-137801522-T-A c.72T>A p.P24= Synonymous 1/2 - 7
5-137801522-T-C c.72T>C p.P24= Synonymous 1/2 - 10
5-137801522-T-G c.72T>G p.P24= Synonymous 1/2 - 10
5-137801522-T-TCG c.73_74insGC p.H25Rfs*15 Frameshift 1/2 - 1
5-137801523-C-A c.73C>A p.H25N Missense 1/2 - 8
5-137801523-CA-AG c.73_74delinsAG p.H25S Missense 1/2 - 1
5-137801523-CA-AT c.73_74delinsAT p.H25I Missense 1/2 - 1
5-137801523-CAC-AAG c.73_75delinsAAG p.H25K Missense 1/2 - 1
5-137801523-CAC-ATG c.73_75delinsATG p.H25M Missense 1/2 - 1
5-137801523-CAC-GAG c.73_75delinsGAG p.H25E Missense 1/2 - 2
5-137801523-CA-GC c.73_74delinsGC p.H25A Missense 1/2 - 24
5-137801523-CA-TG c.73_74inv p.H25C Missense 1/2 - 15
5-137801523-CA-TT c.73_74delinsTT p.H25F Missense 1/2 - 1
5-137801523-C-G c.73C>G p.H25D Missense 1/2 - 7
5-137801523-C-T c.73C>T p.H25Y Missense 1/2 - 14
5-137801522-TCA-T c.74_75del p.H25Lfs*9 Frameshift 1/2 - 1
5-137801524-A-C c.74A>C p.H25P Missense 1/2 - 6
5-137801524-A-G c.74A>G p.H25R Missense 1/2 - 14
5-137801524-A-T c.74A>T p.H25L Missense 1/2 - 1
5-137801524-CA-C c.74del p.H25Pfs*14 Frameshift 1/2 - 1
5-137801524-A-AC c.75dup p.S26Lfs*9 Frameshift 1/2 - 1
5-137801525-AC-A c.75del p.S26Rfs*13 Frameshift 1/2 - 2
5-137801525-C-A c.75C>A p.H25Q Missense 1/2 - 7
5-137801525-C-CGGAGG c.75_76insGGAGG p.S26Gfs*15 Frameshift 1/2 - 1
5-137801525-C-G c.75C>G p.H25Q Missense 1/2 - 7
5-137801525-C-T c.75C>T p.H25= Synonymous 1/2 - 17
5-137801524-ACT-A c.76_77del p.S26Afs*8 Frameshift 1/2 - 1
5-137801524-ACTCGCC-A c.76_81del p.S26_P27del InFrameDeletion 1/2 - 1
5-137801526-CT-C c.76del p.S26Rfs*13 Frameshift 1/2 - 2
5-137801526-T-A c.76T>A p.S26T Missense 1/2 - 12
5-137801526-T-C c.76T>C p.S26P Missense 1/2 - 13
5-137801526-TC-AG c.76_77delinsAG p.S26R Missense 1/2 - 3
5-137801526-TC-AT c.76_77delinsAT p.S26M Missense 1/2 - 1
5-137801526-TC-GA c.76_77inv p.S26E Missense 1/2 - 4
5-137801526-TCG-AAC c.76_78delinsAAC p.S26N Missense 1/2 - 4
5-137801526-TCG-ATC c.76_78delinsATC p.S26I Missense 1/2 - 2
5-137801526-TC-GG c.76_77delinsGG p.S26G Missense 1/2 - 6
5-137801526-TCG-GAC c.76_78delinsGAC p.S26D Missense 1/2 - 6
5-137801526-T-G c.76T>G p.S26A Missense 1/2 - 19
5-137801526-T-TC c.77dup p.P27Afs*8 Frameshift 1/2 - 1
5-137801527-C-A c.77C>A p.S26* Nonsense 1/2 - 10
5-137801527-C-G c.77C>G p.S26W Missense 1/2 - 10
5-137801527-CG-AT c.77_78delinsAT p.S26Y Missense 1/2 - 1
5-137801527-CG-GT c.77_78delinsGT p.S26C Missense 1/2 - 11
5-137801527-CG-TT c.77_78delinsTT p.S26F Missense 1/2 - 6
5-137801527-C-T c.77C>T p.S26L Missense 1/2 - 33
5-137801524-ACTCGCCCACCATGGACAACTACCCTAAGCTGGAGGAGATGATGCTGCTGAGCAACGGGG-A c.78_136del p.T28Vfs*60 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 - 1
5-137801528-CG-C c.78del p.T28Pfs*11 Frameshift 1/2 - 1
5-137801528-G-A c.78G>A p.S26= Synonymous 1/2 - 13
5-137801528-G-C c.78G>C p.S26= Synonymous 1/2 - 9
5-137801528-G-GT c.78_79insT p.P27Sfs*8 Frameshift 1/2 - 1
5-137801528-G-T c.78G>T p.S26= Synonymous 1/2 - 10
5-137801529-C-A c.79C>A p.P27T Missense 1/2 - 10
5-137801529-CC-AA c.79_80delinsAA p.P27N Missense 1/2 - 2
5-137801529-CC-AT c.79_80delinsAT p.P27I Missense 1/2 - 2
5-137801529-CCC-AAG c.79_81delinsAAG p.P27K Missense 1/2 - 5
5-137801529-CCC-ATG c.79_81delinsATG p.P27M Missense 1/2 - 1
5-137801529-CCC-GAG c.79_81delinsGAG p.P27E Missense 1/2 - 2
5-137801529-CCC-TAA c.79_81delinsTAA p.P27* Nonsense 1/2 - 1
5-137801529-CC-GA c.79_80delinsGA p.P27D Missense 1/2 - 2
5-137801529-CC-GG c.79_80inv p.P27G Missense 1/2 - 3
5-137801529-CC-GT c.79_80delinsGT p.P27V Missense 1/2 - 3
5-137801529-CC-TA c.79_80delinsTA p.P27Y Missense 1/2 - 1
5-137801529-CC-TG c.79_80delinsTG p.P27C Missense 1/2 - 2
5-137801529-CC-TT c.79_80delinsTT p.P27F Missense 1/2 - 2
5-137801529-C-G c.79C>G p.P27A Missense 1/2 - 8
5-137801529-C-T c.79C>T p.P27S Missense 1/2 - 23
5-137801528-GCCCACCATGGACAACTACCCTAAGCTGGAGGAGATGATGCTGCTGAGCAACGGGGCTCC-G c.81_139del p.T28Vfs*60 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 - 1
5-137801528-GCCCACCATGGACAA-G c.80_93del p.P27Lfs*3 Frameshift 1/2 - 1
5-137801528-GCCCAC-G c.80_84del p.P27Hfs*6 Frameshift 1/2 - 1
5-137801528-GCC-G c.80_81del p.P27Hfs*7 Frameshift 1/2 - 1
5-137801530-C-A c.80C>A p.P27H Missense 1/2 - 7
5-137801530-CC-AA c.80_81delinsAA p.P27Q Missense 1/2 - 5
5-137801530-C-CG c.80_81insG p.T28Hfs*7 Frameshift 1/2 - 1
5-137801530-C-G c.80C>G p.P27R Missense 1/2 - 7
5-137801530-C-T c.80C>T p.P27L Missense 1/2 - 18
5-137801528-GCCCA-G c.81_84del p.T28Wfs*10 Frameshift 1/2 - 1
5-137801528-GC-G c.81del p.T28Pfs*11 Frameshift 1/2 - 1
5-137801528-G-GC c.81dup p.T28Hfs*7 Frameshift 1/2 - 1
5-137801531-C-A c.81C>A p.P27= Synonymous 1/2 - 15
5-137801531-C-G c.81C>G p.P27= Synonymous 1/2 - 15
5-137801531-C-T c.81C>T p.P27= Synonymous 1/2 - 25
5-137801532-A-C c.82A>C p.T28P Missense 1/2 - 6
5-137801532-ACC-GAG c.82_84delinsGAG p.T28E Missense 1/2 - 2
5-137801532-ACC-TAA c.82_84delinsTAA p.T28* Nonsense 1/2 - 1
5-137801532-ACC-TGG c.82_84delinsTGG p.T28W Missense 1/2 - 1
5-137801532-AC-GA c.82_83delinsGA p.T28D Missense 1/2 - 2
5-137801532-AC-GG c.82_83delinsGG p.T28G Missense 1/2 - 2
5-137801532-AC-TG c.82_83delinsTG p.T28C Missense 1/2 - 2
5-137801532-AC-TT c.82_83delinsTT p.T28F Missense 1/2 - 3
5-137801532-A-G c.82A>G p.T28A Missense 1/2 - 17
5-137801532-A-T c.82A>T p.T28S Missense 1/2 - 8
5-137801532-CA-C c.82del p.T28Pfs*11 Frameshift 1/2 - 1
5-137801533-ACC-A c.83_84del p.T28Nfs*6 Frameshift 1/2 - 1
5-137801533-C-A c.83C>A p.T28N Missense 1/2 - 8
5-137801533-CC-AG c.83_84delinsAG p.T28K Missense 1/2 - 3
5-137801533-CC-GG c.83_84inv p.T28R Missense 1/2 - 1
5-137801533-CC-TG c.83_84delinsTG p.T28M Missense 1/2 - 3
5-137801533-C-G c.83C>G p.T28S Missense 1/2 - 7
5-137801533-C-T c.83C>T p.T28I Missense 1/2 - 28
5-137801532-A-AC c.84dup p.M29Hfs*6 Frameshift 1/2 - 1
5-137801532-AC-A c.84del p.M29Wfs*10 Frameshift 1/2 - 1
5-137801534-C-A c.84C>A p.T28= Synonymous 1/2 - 9
5-137801534-CCATGGACAACTACCCTAAGCTGGAGGAGATGATGCTGCTGAGCAACGGGGCTCCCCAGT-C c.84_142del p.M29Pfs*59 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 - 1
5-137801534-C-G c.84C>G p.T28= Synonymous 1/2 - 10
5-137801534-C-T c.84C>T p.T28= Synonymous 1/2 - 16
5-137801535-A-AG c.85_86insG p.M29Sfs*6 Frameshift 1/2 - 1
5-137801535-A-C c.85A>C p.M29L Missense 1/2 - 3
5-137801535-A-G c.85A>G p.M29V Missense 1/2 - 8
5-137801535-A-T c.85A>T p.M29L Missense 1/2 - 3
5-137801535-CA-C c.85del p.M29Wfs*10 Frameshift 1/2 - 1
5-137801535-A-AT c.86dup p.M29Ifs*6 Frameshift 1/2 - 1
5-137801536-AT-A c.86del p.M29Rfs*10 Frameshift 1/2 - 1
5-137801536-T-A c.86T>A p.M29K Missense 1/2 - 4
5-137801536-T-C c.86T>C p.M29T Missense 1/2 - 10
5-137801536-T-G c.86T>G p.M29R Missense 1/2 - 4
5-137801536-TG-AC c.86_87delinsAC p.M29N Missense 1/2 - 1
5-137801536-TG-GC c.86_87delinsGC p.M29S Missense 1/2 - 2
5-137801536-T-TCGGGACTC c.86_87insCGGGACTC p.M29Ifs*13 Frameshift 1/2 - 1
5-137801535-A-ATGCTCAAGGTGAGGCCGGCGCGGCGCGGCG c.87_88insCTCAAGGTGAGGCCGGCGCGGCGCGGCGTG p.M29_D30insLKVRPARRGV InFrameInsertion 1/2 - 1
5-137801537-G-A c.87G>A p.M29I Missense 1/2 - 13
5-137801537-G-C c.87G>C p.M29I Missense 1/2 - 5
5-137801537-G-GT c.87_88insT p.D30* Nonsense 1/2 - 2
5-137801537-G-T c.87G>T p.M29I Missense 1/2 - 8
5-137801536-T-TG c.88dup p.D30Gfs*5 Frameshift 1/2 - 1
5-137801538-G-A c.88G>A p.D30N Missense 1/2 - 63
5-137801538-GA-AC c.88_89delinsAC p.D30T Missense 1/2 - 1
5-137801538-GAC-AAG c.88_90delinsAAG p.D30K Missense 1/2 - 1
5-137801538-GAC-ATG c.88_90delinsATG p.D30M Missense 1/2 - 1
5-137801538-GA-CC c.88_89delinsCC p.D30P Missense 1/2 - 1
5-137801538-GAC-TAA c.88_90delinsTAA p.D30* Nonsense 1/2 - 1
5-137801538-GA-TG c.88_89delinsTG p.D30C Missense 1/2 - 4
5-137801538-GA-TT c.88_89delinsTT p.D30F Missense 1/2 - 3
5-137801538-G-C c.88G>C p.D30H Missense 1/2 - 6
5-137801538-G-T c.88G>T p.D30Y Missense 1/2 - 11
5-137801539-A-C c.89A>C p.D30A Missense 1/2 - 8
5-137801539-A-G c.89A>G p.D30G Missense 1/2 - 7
5-137801539-A-T c.89A>T p.D30V Missense 1/2 - 7
5-137801540-C-A c.90C>A p.D30E Missense 1/2 - 13
5-137801540-C-CT c.90_91insT p.N31* Nonsense 1/2 - 2
5-137801540-C-G c.90C>G p.D30E Missense 1/2 - 14
5-137801540-C-T c.90C>T p.D30= Synonymous 1/2 - 20
5-137801541-AA-GC c.91_92delinsGC p.N31A Missense 1/2 - 2
5-137801541-AA-GT c.91_92delinsGT p.N31V Missense 1/2 - 1
5-137801541-A-AT c.91_92insT p.N31Ifs*4 Frameshift 1/2 - 2
5-137801541-A-C c.91A>C p.N31H Missense 1/2 - 6
5-137801541-A-G c.91A>G p.N31D Missense 1/2 - 9
5-137801541-A-T c.91A>T p.N31Y Missense 1/2 - 5
5-137801540-CAACT-C c.92_95del p.N31Tfs*7 Frameshift 1/2 - 1
5-137801542-A-C c.92A>C p.N31T Missense 1/2 - 5
5-137801542-AC-GG c.92_93delinsGG p.N31R Missense 1/2 - 1
5-137801542-A-G c.92A>G p.N31S Missense 1/2 - 20
5-137801542-A-T c.92A>T p.N31I Missense 1/2 - 5
5-137801543-C-A c.93C>A p.N31K Missense 1/2 - 8
5-137801543-C-G c.93C>G p.N31K Missense 1/2 - 5
5-137801543-C-T c.93C>T p.N31= Synonymous 1/2 - 11
5-137801544-T-A c.94T>A p.Y32N Missense 1/2 - 7
5-137801544-TA-CC c.94_95delinsCC p.Y32P Missense 1/2 - 3
5-137801544-TA-CG c.94_95delinsCG p.Y32R Missense 1/2 - 1
5-137801544-TA-CT c.94_95delinsCT p.Y32L Missense 1/2 - 1
5-137801544-TA-GC c.94_95delinsGC p.Y32A Missense 1/2 - 2
5-137801544-T-C c.94T>C p.Y32H Missense 1/2 - 13
5-137801544-T-G c.94T>G p.Y32D Missense 1/2 - 6
5-137801544-T-TA c.95dup p.Y32* Nonsense 1/2 - 1
5-137801545-A-C c.95A>C p.Y32S Missense 1/2 - 5
5-137801545-AC-GG c.95_96delinsGG p.Y32W Missense 1/2 - 2
5-137801545-A-G c.95A>G p.Y32C Missense 1/2 - 9
5-137801545-A-T c.95A>T p.Y32F Missense 1/2 - 9
5-137801545-TA-T c.95del p.Y32Sfs*7 Frameshift 1/2 - 1
5-137801544-T-TACGG c.96_97insGGAC p.P33Gfs*3 Frameshift 1/2 - 1
5-137801546-C-A c.96C>A p.Y32* Nonsense 1/2 - 6
5-137801546-C-G c.96C>G p.Y32* Nonsense 1/2 - 9
5-137801546-C-T c.96C>T p.Y32= Synonymous 1/2 - 14
5-137801547-C-A c.97C>A p.P33T Missense 1/2 - 4
5-137801547-CC-GG c.97_98inv p.P33G Missense 1/2 - 1
5-137801547-CC-GT c.97_98delinsGT p.P33V Missense 1/2 - 1
5-137801547-CCT-AAG c.97_99delinsAAG p.P33K Missense 1/2 - 1
5-137801547-CC-TG c.97_98delinsTG p.P33C Missense 1/2 - 1
5-137801547-CCT-TAA c.97_99delinsTAA p.P33* Nonsense 1/2 - 1
5-137801547-C-G c.97C>G p.P33A Missense 1/2 - 9
5-137801547-C-T c.97C>T p.P33S Missense 1/2 - 21
5-137801545-ACCCTAAGCTGGAGGAGATGATGCTGCTGAGCAACGGGGCTCCCCAGTTCCTCGGCGCCG-A c.98_156del p.P33Rfs*55 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 - 1
5-137801548-C-A c.98C>A p.P33H Missense 1/2 - 4
5-137801548-C-CAT c.98_99insAT p.K34Lfs*6 Frameshift 1/2 - 1
5-137801548-C-G c.98C>G p.P33R Missense 1/2 - 8
5-137801548-C-T c.98C>T p.P33L Missense 1/2 - 21
5-137801548-C-CT c.99dup p.K34* Nonsense 1/2 - 2
5-137801548-C-CTGG c.99_100insGGT p.P33_K34insG InFrameInsertion 1/2 - 1
5-137801549-CT-C c.99del p.K34Sfs*5 Frameshift 1/2 - 1
5-137801549-T-A c.99T>A p.P33= Synonymous 1/2 - 11
5-137801549-T-C c.99T>C p.P33= Synonymous 1/2 - 16
5-137801549-T-G c.99T>G p.P33= Synonymous 1/2 - 12
5-137801549-T-TACGTGGAG c.100_101insCGTGGAGA p.K34Tfs*8 Frameshift 1/2 - 1
5-137801550-AA-GC c.100_101delinsGC p.K34A Missense 1/2 - 2
5-137801550-AAG-CAT c.100_102delinsCAT p.K34H Missense 1/2 - 1
5-137801550-AA-GG c.100_101delinsGG p.K34G Missense 1/2 - 1
5-137801550-AAG-TAT c.100_102delinsTAT p.K34Y Missense 1/2 - 1
5-137801550-A-C c.100A>C p.K34Q Missense 1/2 - 3
5-137801550-A-G c.100A>G p.K34E Missense 1/2 - 15
5-137801550-A-T c.100A>T p.K34* Nonsense 1/2 - 4
5-137801551-A-C c.101A>C p.K34T Missense 1/2 - 9
5-137801551-A-G c.101A>G p.K34R Missense 1/2 - 14
5-137801551-AG-GC c.101_102delinsGC p.K34S Missense 1/2 - 1
5-137801551-A-T c.101A>T p.K34M Missense 1/2 - 10
5-137801552-AG-A c.102del p.K34Nfs*5 Frameshift 1/2 - 1
5-137801552-G-A c.102G>A p.K34= Synonymous 1/2 - 14
5-137801552-G-C c.102G>C p.K34N Missense 1/2 - 14
5-137801552-G-T c.102G>T p.K34N Missense 1/2 - 12
5-137801551-AGCTGGAG-A c.103_109del p.L35Rfs*2 Frameshift 1/2 - 1
5-137801553-C-A c.103C>A p.L35M Missense 1/2 - 6
5-137801553-C-CA c.103_104insA p.L35Hfs*73 Frameshift 1/2 - 1
5-137801553-C-G c.103C>G p.L35V Missense 1/2 - 13
5-137801553-CT-AA c.103_104delinsAA p.L35K Missense 1/2 - 2
5-137801553-CT-AC c.103_104delinsAC p.L35T Missense 1/2 - 2
5-137801553-CT-GA c.103_104delinsGA p.L35E Missense 1/2 - 3
5-137801553-CTG-AAC c.103_105delinsAAC p.L35N Missense 1/2 - 2
5-137801553-CTG-ATC c.103_105delinsATC p.L35I Missense 1/2 - 3
5-137801553-CT-GC c.103_104delinsGC p.L35A Missense 1/2 - 25
5-137801553-CT-GG c.103_104delinsGG p.L35G Missense 1/2 - 3
5-137801553-CTG-GAC c.103_105delinsGAC p.L35D Missense 1/2 - 2
5-137801553-CTG-TGT c.103_105delinsTGT p.L35C Missense 1/2 - 1
5-137801553-CTG-TTT c.103_105delinsTTT p.L35F Missense 1/2 - 14
5-137801553-CT-TC c.103_104delinsTC p.L35S Missense 1/2 - 4
5-137801553-CT-TG c.103_104delinsTG p.L35W Missense 1/2 - 4
5-137801554-CTG-C c.104_105del p.L35Rfs*72 Frameshift 1/2 - 1
5-137801554-CTGG-C c.104_106del p.L35_E36delinsQ MultiAAMissense 1/2 - 1
5-137801554-T-A c.104T>A p.L35Q Missense 1/2 - 7
5-137801554-T-C c.104T>C p.L35P Missense 1/2 - 15
5-137801554-T-G c.104T>G p.L35R Missense 1/2 - 9
5-137801554-TG-AT c.104_105delinsAT p.L35H Missense 1/2 - 2
5-137801553-C-T c.103C>T p.L35= Synonymous 1/2 - 22
5-137801555-G-A c.105G>A p.L35= Synonymous 1/2 - 15
5-137801555-G-C c.105G>C p.L35= Synonymous 1/2 - 9
5-137801555-G-GA c.105_106insA p.E36Rfs*72 Frameshift 1/2 - 1
5-137801555-G-T c.105G>T p.L35= Synonymous 1/2 - 13
5-137801554-TG-T c.106del p.E36Rfs*3 Frameshift 1/2 - 2
5-137801554-T-TG c.106dup p.E36Gfs*72 Frameshift 1/2 - 1
5-137801556-G-A c.106G>A p.E36K Missense 1/2 - 27
5-137801556-GA-AC c.106_107delinsAC p.E36T Missense 1/2 - 1
5-137801556-GA-AG c.106_107delinsAG p.E36R Missense 1/2 - 3
5-137801556-GAG-TGT c.106_108delinsTGT p.E36C Missense 1/2 - 3
5-137801556-GAG-TTT c.106_108delinsTTT p.E36F Missense 1/2 - 1
5-137801556-G-C c.106G>C p.E36Q Missense 1/2 - 9
5-137801556-G-T c.106G>T p.E36* Nonsense 1/2 - 5
5-137801557-A-ACTGGC c.107_108insCTGGC p.E36Dfs*5 Frameshift 1/2 - 1
5-137801557-A-C c.107A>C p.E36A Missense 1/2 - 10
5-137801557-A-G c.107A>G p.E36G Missense 1/2 - 8
5-137801557-A-T c.107A>T p.E36V Missense 1/2 - 7
5-137801558-G-A c.108G>A p.E36= Synonymous 1/2 - 10
5-137801558-G-C c.108G>C p.E36D Missense 1/2 - 15
5-137801558-G-GTGATTTCAT c.108_109insTGATTTCAT p.E36_E37ins* Nonsense 1/2 - 1
5-137801558-G-T c.108G>T p.E36D Missense 1/2 - 13
5-137801554-TGGA-T c.109_111del p.E37del InFrameDeletion 1/2 - 2
5-137801557-A-AG c.109dup p.E37Gfs*71 Frameshift 1/2 - 1
5-137801559-G-A c.109G>A p.E37K Missense 1/2 - 25
5-137801559-GA-AC c.109_110delinsAC p.E37T Missense 1/2 - 1
5-137801559-GA-AG c.109_110delinsAG p.E37R Missense 1/2 - 2
5-137801559-GA-CT c.109_110delinsCT p.E37L Missense 1/2 - 1
5-137801559-GAG-AAC c.109_111delinsAAC p.E37N Missense 1/2 - 1
5-137801559-GAG-ATC c.109_111delinsATC p.E37I Missense 1/2 - 1
5-137801559-GAG-TAT c.109_111delinsTAT p.E37Y Missense 1/2 - 1
5-137801559-GAG-TGT c.109_111delinsTGT p.E37C Missense 1/2 - 2
5-137801559-GAG-TTT c.109_111delinsTTT p.E37F Missense 1/2 - 2
5-137801559-GA-TG c.109_110delinsTG p.E37W Missense 1/2 - 1
5-137801559-G-C c.109G>C p.E37Q Missense 1/2 - 7
5-137801559-G-T c.109G>T p.E37* Nonsense 1/2 - 3
5-137801560-A-C c.110A>C p.E37A Missense 1/2 - 10
5-137801560-A-G c.110A>G p.E37G Missense 1/2 - 8
5-137801560-A-T c.110A>T p.E37V Missense 1/2 - 4
5-137801560-GAGAT-G c.110_113del p.E37Gfs*4 Frameshift 1/2 - 1
5-137801558-GGA-G c.111_112del p.E37Dfs*70 Frameshift 1/2 - 1
5-137801561-G-A c.111G>A p.E37= Synonymous 1/2 - 9
5-137801561-G-C c.111G>C p.E37D Missense 1/2 - 11
5-137801561-G-T c.111G>T p.E37D Missense 1/2 - 12
5-137801562-A-C c.112A>C p.M38L Missense 1/2 - 3
5-137801562-A-G c.112A>G p.M38V Missense 1/2 - 12
5-137801562-A-T c.112A>T p.M38L Missense 1/2 - 2
5-137801562-AT-GA c.112_113delinsGA p.M38E Missense 1/2 - 1
5-137801562-AT-GC c.112_113delinsGC p.M38A Missense 1/2 - 3
5-137801562-ATG-GAC c.112_114delinsGAC p.M38D Missense 1/2 - 1
5-137801562-ATG-TAT c.112_114delinsTAT p.M38Y Missense 1/2 - 1
5-137801562-ATG-TTT c.112_114delinsTTT p.M38F Missense 1/2 - 1
5-137801562-AT-TA c.112_113delinsTA p.M38* Nonsense 1/2 - 3
5-137801562-GAT-G c.112_113del p.M38Dfs*69 Frameshift 1/2 - 1
5-137801563-AT-A c.113del p.M38Rfs*4 Frameshift 1/2 - 1
5-137801563-T-A c.113T>A p.M38K Missense 1/2 - 5
5-137801563-T-C c.113T>C p.M38T Missense 1/2 - 6
5-137801563-T-G c.113T>G p.M38R Missense 1/2 - 5
5-137801564-G-A c.114G>A p.M38I Missense 1/2 - 8
5-137801564-G-C c.114G>C p.M38I Missense 1/2 - 9
5-137801564-G-T c.114G>T p.M38I Missense 1/2 - 9
5-137801560-AGAT-A c.115_117del p.M39del InFrameDeletion 1/2 - 1
5-137801565-A-C c.115A>C p.M39L Missense 1/2 - 7
5-137801565-A-G c.115A>G p.M39V Missense 1/2 - 10
5-137801565-A-T c.115A>T p.M39L Missense 1/2 - 6
5-137801565-AT-GC c.115_116delinsGC p.M39A Missense 1/2 - 1
5-137801565-ATG-TGT c.115_117delinsTGT p.M39C Missense 1/2 - 1
5-137801565-ATG-TTT c.115_117delinsTTT p.M39F Missense 1/2 - 1
5-137801566-T-A c.116T>A p.M39K Missense 1/2 - 7
5-137801566-T-C c.116T>C p.M39T Missense 1/2 - 8
5-137801566-T-G c.116T>G p.M39R Missense 1/2 - 8
5-137801567-G-A c.117G>A p.M39I Missense 1/2 - 14
5-137801567-G-C c.117G>C p.M39I Missense 1/2 - 4
5-137801567-G-T c.117G>T p.M39I Missense 1/2 - 8
5-137801567-TG-T c.117del p.M39Ifs*3 Frameshift 1/2 - 1
5-137801568-C-A c.118C>A p.L40M Missense 1/2 - 10
5-137801568-C-G c.118C>G p.L40V Missense 1/2 - 10
5-137801568-CT-AA c.118_119delinsAA p.L40K Missense 1/2 - 1
5-137801568-CT-AC c.118_119delinsAC p.L40T Missense 1/2 - 1
5-137801568-CT-GA c.118_119delinsGA p.L40E Missense 1/2 - 9
5-137801568-CTG-AAC c.118_120delinsAAC p.L40N Missense 1/2 - 3
5-137801568-CTG-ATC c.118_120delinsATC p.L40I Missense 1/2 - 1
5-137801568-CT-GC c.118_119delinsGC p.L40A Missense 1/2 - 2
5-137801568-CT-GG c.118_119delinsGG p.L40G Missense 1/2 - 2
5-137801568-CTG-GAC c.118_120delinsGAC p.L40D Missense 1/2 - 1
5-137801568-CTG-TGT c.118_120delinsTGT p.L40C Missense 1/2 - 1
5-137801568-CTG-TTT c.118_120delinsTTT p.L40F Missense 1/2 - 6
5-137801568-CT-TA c.118_119delinsTA p.L40* Nonsense 1/2 - 2
5-137801568-CT-TC c.118_119delinsTC p.L40S Missense 1/2 - 4
5-137801568-GC-G c.118del p.L40Cfs*2 Frameshift 1/2 - 1
5-137801569-CTGCTGAGCAACGGGGCTCCCCAGTTCCTCGGCGCCGCCGGGGCCCCAGAGGG-C c.119_170del p.L40Pfs*44 Frameshift 1/2 - 1
5-137801569-T-A c.119T>A p.L40Q Missense 1/2 - 7
5-137801569-T-C c.119T>C p.L40P Missense 1/2 - 15
5-137801569-T-G c.119T>G p.L40R Missense 1/2 - 5
5-137801569-TG-AT c.119_120delinsAT p.L40H Missense 1/2 - 2
5-137801568-C-T c.118C>T p.L40= Synonymous 1/2 - 21
5-137801570-G-A c.120G>A p.L40= Synonymous 1/2 - 23
5-137801570-G-C c.120G>C p.L40= Synonymous 1/2 - 11
5-137801570-G-T c.120G>T p.L40= Synonymous 1/2 - 12
5-137801565-ATGC-A c.121_123del p.L41del InFrameDeletion 1/2 - 1
5-137801570-G-GCCCGAC c.121_122insCCGACC p.L40_L41insPD InFrameInsertion 1/2 - 1
5-137801571-C-A c.121C>A p.L41M Missense 1/2 - 6
5-137801571-C-G c.121C>G p.L41V Missense 1/2 - 10
5-137801571-CT-AA c.121_122delinsAA p.L41K Missense 1/2 - 2
5-137801571-CT-AC c.121_122delinsAC p.L41T Missense 1/2 - 1
5-137801571-CT-GA c.121_122delinsGA p.L41E Missense 1/2 - 4
5-137801571-CTG-AAC c.121_123delinsAAC p.L41N Missense 1/2 - 1
5-137801571-CTG-ATC c.121_123delinsATC p.L41I Missense 1/2 - 8
5-137801571-CT-GC c.121_122delinsGC p.L41A Missense 1/2 - 5
5-137801571-CT-GG c.121_122delinsGG p.L41G Missense 1/2 - 1
5-137801571-CTG-GAC c.121_123delinsGAC p.L41D Missense 1/2 - 1
5-137801571-CTG-TGT c.121_123delinsTGT p.L41C Missense 1/2 - 1
5-137801571-CTG-TTT c.121_123delinsTTT p.L41F Missense 1/2 - 7
5-137801571-CT-TC c.121_122delinsTC p.L41S Missense 1/2 - 1
5-137801572-CT-C c.122del p.L41Rfs*60 Frameshift 1/2 - 1
5-137801572-T-A c.122T>A p.L41Q Missense 1/2 - 7
5-137801572-T-C c.122T>C p.L41P Missense 1/2 - 8
5-137801572-T-G c.122T>G p.L41R Missense 1/2 - 9
5-137801572-TG-AT c.122_123delinsAT p.L41H Missense 1/2 - 1
5-137801571-C-T c.121C>T p.L41= Synonymous 1/2 - 22
5-137801573-G-A c.123G>A p.L41= Synonymous 1/2 - 19
5-137801573-G-C c.123G>C p.L41= Synonymous 1/2 - 11
5-137801573-G-GT c.123_124insT p.S42* Nonsense 1/2 - 1
5-137801573-G-T c.123G>T p.L41= Synonymous 1/2 - 11
5-137801573-G-GAA c.124_125insAA p.S42Kfs*60 Frameshift 1/2 - 1
5-137801574-A-C c.124A>C p.S42R Missense 1/2 - 10
5-137801574-A-G c.124A>G p.S42G Missense 1/2 - 14
5-137801574-AG-CC c.124_125delinsCC p.S42P Missense 1/2 - 4
5-137801574-AGC-CAA c.124_126delinsCAA p.S42Q Missense 1/2 - 1
5-137801574-AG-CT c.124_125inv p.S42L Missense 1/2 - 5
5-137801574-AGC-TGA c.124_126delinsTGA p.S42* Nonsense 1/2 - 2
5-137801574-AGC-TGG c.124_126delinsTGG p.S42W Missense 1/2 - 1
5-137801574-AG-GA c.124_125delinsGA p.S42D Missense 1/2 - 1
5-137801574-AG-GC c.124_125delinsGC p.S42A Missense 1/2 - 10
5-137801574-AG-TA c.124_125delinsTA p.S42Y Missense 1/2 - 2
5-137801574-AG-TT c.124_125delinsTT p.S42F Missense 1/2 - 10
5-137801574-A-T c.124A>T p.S42C Missense 1/2 - 7
5-137801574-GA-G c.124del p.S42Afs*59 Frameshift 1/2 - 1
5-137801574-A-AG c.125dup p.S42Rfs*66 Frameshift 1/2 - 1
5-137801575-G-A c.125G>A p.S42N Missense 1/2 - 17
5-137801575-G-C c.125G>C p.S42T Missense 1/2 - 9
5-137801575-GC-AG c.125_126delinsAG p.S42K Missense 1/2 - 1
5-137801575-G-T c.125G>T p.S42I Missense 1/2 - 5
5-137801575-G-GCCCCGA c.126_127insCCCGAC p.S42_N43insPD InFrameInsertion 1/2 - 1
5-137801576-C-A c.126C>A p.S42R Missense 1/2 - 11
5-137801576-C-CT c.126_127insT p.N43* Nonsense 1/2 - 3
5-137801576-C-G c.126C>G p.S42R Missense 1/2 - 8
5-137801576-C-T c.126C>T p.S42= Synonymous 1/2 - 9
5-137801577-AAC-GAG c.127_129delinsGAG p.N43E Missense 1/2 - 2
5-137801577-AA-GC c.127_128delinsGC p.N43A Missense 1/2 - 1
5-137801577-A-C c.127A>C p.N43H Missense 1/2 - 4
5-137801577-A-G c.127A>G p.N43D Missense 1/2 - 9
5-137801577-A-T c.127A>T p.N43Y Missense 1/2 - 3
5-137801576-CA-C c.128del p.N43Tfs*58 Frameshift 1/2 - 1
5-137801576-C-CAAT c.128_129insTAA p.N43dup InFrameInsertion 1/2 - 1
5-137801577-A-AATGCGG c.128_129insTGCGGA p.N43_G44insAD InFrameInsertion 1/2 - 1
5-137801578-A-C c.128A>C p.N43T Missense 1/2 - 5
5-137801578-A-G c.128A>G p.N43S Missense 1/2 - 12
5-137801578-A-T c.128A>T p.N43I Missense 1/2 - 1
5-137801579-C-A c.129C>A p.N43K Missense 1/2 - 5
5-137801579-C-G c.129C>G p.N43K Missense 1/2 - 4
5-137801579-C-T c.129C>T p.N43= Synonymous 1/2 - 17
5-137801580-G-A c.130G>A p.G44R Missense 1/2 - 19
5-137801580-G-C c.130G>C p.G44R Missense 1/2 - 8
5-137801580-GG-AC c.130_131delinsAC p.G44T Missense 1/2 - 1
5-137801580-GG-CC c.130_131inv p.G44P Missense 1/2 - 1
5-137801580-GGG-AGC c.130_132delinsAGC p.G44S Missense 1/2 - 13
5-137801580-GGG-TGT c.130_132delinsTGT p.G44C Missense 1/2 - 4
5-137801580-GG-TA c.130_131delinsTA p.G44* Nonsense 1/2 - 3
5-137801580-G-T c.130G>T p.G44W Missense 1/2 - 3
5-137801579-CGGG-C c.131_133del p.G44del InFrameDeletion 1/2 - 1
5-137801579-CGGGGCTCCCCAGTTCCTCGGCGCCGCCGGGGCCCCAGAGGGCAGCG-C c.131_176del p.G44Afs*42 Frameshift 1/2 - 1
5-137801581-G-A c.131G>A p.G44E Missense 1/2 - 22
5-137801581-G-C c.131G>C p.G44A Missense 1/2 - 10
5-137801581-GG-AC c.131_132delinsAC p.G44D Missense 1/2 - 7
5-137801581-G-GC c.131_132insC p.A45Gfs*63 Frameshift 1/2 - 1
5-137801581-G-T c.131G>T p.G44V Missense 1/2 - 7
5-137801582-G-A c.132G>A p.G44= Synonymous 1/2 - 16
5-137801582-G-C c.132G>C p.G44= Synonymous 1/2 - 8
5-137801582-G-T c.132G>T p.G44= Synonymous 1/2 - 13
5-137801579-CG-C c.133del p.A45Lfs*56 Frameshift 1/2 - 3
5-137801583-G-A c.133G>A p.A45T Missense 1/2 - 37
5-137801583-G-C c.133G>C p.A45P Missense 1/2 - 23
5-137801583-GC-AA c.133_134delinsAA p.A45N Missense 1/2 - 30
5-137801583-GC-AT c.133_134delinsAT p.A45I Missense 1/2 - 12
5-137801583-GC-CA c.133_134delinsCA p.A45H Missense 1/2 - 10
5-137801583-GC-CG c.133_134delinsCG p.A45R Missense 1/2 - 20
5-137801583-GC-CT c.133_134delinsCT p.A45L Missense 1/2 - 2
5-137801583-GC-TA c.133_134delinsTA p.A45Y Missense 1/2 - 17
5-137801583-GCT-AAG c.133_135delinsAAG p.A45K Missense 1/2 - 14
5-137801583-GCT-CAA c.133_135delinsCAA p.A45Q Missense 1/2 - 17
5-137801583-GC-TG c.133_134delinsTG p.A45C Missense 1/2 - 18
5-137801583-GC-TT c.133_134delinsTT p.A45F Missense 1/2 - 18
5-137801583-GCT-TAA c.133_135delinsTAA p.A45* Nonsense 1/2 - 18
5-137801583-GCT-TGG c.133_135delinsTGG p.A45W Missense 1/2 - 21
5-137801583-GGCT-G c.133_135del p.A45del InFrameDeletion 1/2 - 1
5-137801583-G-T c.133G>T p.A45S Missense 1/2 - 8
5-137801584-C-A c.134C>A p.A45D Missense 1/2 - 28
5-137801584-C-G c.134C>G p.A45G Missense 1/2 - 21
5-137801584-C-T c.134C>T p.A45V Missense 1/2 - 44
5-137801584-CT-AG c.134_135inv p.A45E Missense 1/2 - 23
5-137801584-GC-G c.134del p.A45Vfs*56 Frameshift 1/2 - 1
5-137801584-C-CT c.135dup p.P46Sfs*62 Frameshift 1/2 - 1
5-137801585-T-A c.135T>A p.A45= Synonymous 1/2 - 19
5-137801585-T-C c.135T>C p.A45= Synonymous 1/2 - 24
5-137801585-T-G c.135T>G p.A45= Synonymous 1/2 - 22
5-137801585-T-TA c.135_136insA p.P46Tfs*62 Frameshift 1/2 - 1
5-137801585-T-TCAGCGG c.136_137insAGCGGC p.A45_P46insQR InFrameInsertion 1/2 - 1
5-137801586-C-A c.136C>A p.P46T Missense 1/2 - 9
5-137801586-CCC-ATG c.136_138delinsATG p.P46M Missense 1/2 - 1
5-137801586-CCC-GAG c.136_138delinsGAG p.P46E Missense 1/2 - 1
5-137801586-CC-GG c.136_137inv p.P46G Missense 1/2 - 1
5-137801586-C-CT c.136_137insT p.P46Lfs*62 Frameshift 1/2 - 1
5-137801586-C-G c.136C>G p.P46A Missense 1/2 - 8
5-137801586-C-T c.136C>T p.P46S Missense 1/2 - 13
5-137801587-C-A c.137C>A p.P46H Missense 1/2 - 6
5-137801587-CC-AA c.137_138delinsAA p.P46Q Missense 1/2 - 2
5-137801587-C-G c.137C>G p.P46R Missense 1/2 - 5
5-137801587-C-T c.137C>T p.P46L Missense 1/2 - 24
5-137801588-C-A c.138C>A p.P46= Synonymous 1/2 - 9
5-137801588-C-CAG c.138_139insAG p.Q47Sfs*55 Frameshift 1/2 - 1
5-137801588-C-CGTT c.138_139insGTT p.P46_Q47insV InFrameInsertion 1/2 - 1
5-137801588-C-G c.138C>G p.P46= Synonymous 1/2 - 15
5-137801588-C-T c.138C>T p.P46= Synonymous 1/2 - 15
5-137801589-C-A c.139C>A p.Q47K Missense 1/2 - 7
5-137801589-CA-GC c.139_140delinsGC p.Q47A Missense 1/2 - 6
5-137801589-CAG-TGT c.139_141delinsTGT p.Q47C Missense 1/2 - 1
5-137801589-CCAG-C c.139_141del p.Q47del InFrameDeletion 1/2 - 1
5-137801589-CCAGTTCCTCGGCGCCGCCGGGGCCCCAGAGGGCAGCGGCAGCAACAGCAGCAGCAGCAG-C c.142_200del p.F48Rfs*40 Frameshift 1/2 - 1
5-137801589-C-CTGTGGTA c.139_140insTGTGGTA p.Q47Lfs*3 Frameshift 1/2 - 1
5-137801589-C-G c.139C>G p.Q47E Missense 1/2 - 8
5-137801589-C-T c.139C>T p.Q47* Nonsense 1/2 - 8
5-137801590-A-C c.140A>C p.Q47P Missense 1/2 - 7
5-137801590-A-G c.140A>G p.Q47R Missense 1/2 - 11
5-137801590-A-T c.140A>T p.Q47L Missense 1/2 - 5
5-137801590-A-AGGC c.141_142insGCG p.Q47_F48insA InFrameInsertion 1/2 - 1
5-137801591-G-A c.141G>A p.Q47= Synonymous 1/2 - 14
5-137801591-G-C c.141G>C p.Q47H Missense 1/2 - 6
5-137801591-G-T c.141G>T p.Q47H Missense 1/2 - 8
5-137801591-G-GTAC c.142_143insACT p.Q47_F48insY InFrameInsertion 1/2 - 1
5-137801592-T-A c.142T>A p.F48I Missense 1/2 - 4
5-137801592-T-C c.142T>C p.F48L Missense 1/2 - 14
5-137801592-T-G c.142T>G p.F48V Missense 1/2 - 6
5-137801592-TT-CC c.142_143delinsCC p.F48P Missense 1/2 - 1
5-137801592-TTC-GAG c.142_144delinsGAG p.F48E Missense 1/2 - 2
5-137801592-TT-GA c.142_143delinsGA p.F48D Missense 1/2 - 3
5-137801592-TT-GC c.142_143delinsGC p.F48A Missense 1/2 - 5
5-137801594-C-A c.144C>A p.F48L Missense 1/2 - 16
5-137801594-C-G c.144C>G p.F48L Missense 1/2 - 11
5-137801593-T-A c.143T>A p.F48Y Missense 1/2 - 5
5-137801593-T-C c.143T>C p.F48S Missense 1/2 - 10
5-137801593-TC-AA c.143_144delinsAA p.F48* Nonsense 1/2 - 1
5-137801593-TCCTCGGCGCC-CCAG c.143_153delinsCCAG p.F48Sfs*51 Frameshift 1/2 - 1
5-137801593-T-G c.143T>G p.F48C Missense 1/2 - 5
5-137801593-T-TCGGAGGAGG c.144_145insGGAGGAGGC p.F48_L49insGGG InFrameInsertion 1/2 - 1
5-137801594-C-CT c.144_145insT p.L49Sfs*59 Frameshift 1/2 - 1
5-137801594-C-T c.144C>T p.F48= Synonymous 1/2 - 15
5-137801593-TC-T c.145del p.L49Sfs*52 Frameshift 1/2 - 1
5-137801595-C-A c.145C>A p.L49I Missense 1/2 - 7
5-137801595-C-G c.145C>G p.L49V Missense 1/2 - 11
5-137801595-C-T c.145C>T p.L49F Missense 1/2 - 17
5-137801595-CT-AG c.145_146inv p.L49S Missense 1/2 - 1
5-137801595-CTC-ATG c.145_147delinsATG p.L49M Missense 1/2 - 3
5-137801595-CTC-TAA c.145_147delinsTAA p.L49* Nonsense 1/2 - 2
5-137801595-CT-GA c.145_146delinsGA p.L49D Missense 1/2 - 1
5-137801595-CT-GG c.145_146delinsGG p.L49G Missense 1/2 - 1
5-137801596-T-A c.146T>A p.L49H Missense 1/2 - 6
5-137801596-T-C c.146T>C p.L49P Missense 1/2 - 11
5-137801596-T-G c.146T>G p.L49R Missense 1/2 - 4
5-137801596-T-TC c.147dup p.G50Rfs*58 Frameshift 1/2 - 1
5-137801597-C-A c.147C>A p.L49= Synonymous 1/2 - 19
5-137801597-C-CCAGCAA c.147_148insCAGCAA p.L49_G50insQQ InFrameInsertion 1/2 - 1
5-137801597-C-G c.147C>G p.L49= Synonymous 1/2 - 15
5-137801597-C-T c.147C>T p.L49= Synonymous 1/2 - 23
5-137801598-G-A c.148G>A p.G50S Missense 1/2 - 21
5-137801598-G-C c.148G>C p.G50R Missense 1/2 - 8
5-137801598-GGC-CAA c.148_150delinsCAA p.G50Q Missense 1/2 - 1
5-137801598-GG-CT c.148_149delinsCT p.G50L Missense 1/2 - 1
5-137801598-GGC-TGA c.148_150delinsTGA p.G50* Nonsense 1/2 - 3
5-137801598-GGC-TGG c.148_150delinsTGG p.G50W Missense 1/2 - 1
5-137801598-G-T c.148G>T p.G50C Missense 1/2 - 8
5-137801597-C-CG c.149dup p.A51Rfs*57 Frameshift 1/2 - 1
5-137801597-CG-C c.149del p.G50Afs*51 Frameshift 1/2 - 1
5-137801599-G-A c.149G>A p.G50D Missense 1/2 - 16
5-137801599-G-C c.149G>C p.G50A Missense 1/2 - 11
5-137801599-GC-AG c.149_150delinsAG p.G50E Missense 1/2 - 6
5-137801599-G-T c.149G>T p.G50V Missense 1/2 - 12
5-137801598-GGCGCCGCC-G c.150_157del p.A51Gfs*54 Frameshift 1/2 - 1
5-137801600-C-A c.150C>A p.G50= Synonymous 1/2 - 11
5-137801600-C-G c.150C>G p.G50= Synonymous 1/2 - 12
5-137801600-C-T c.150C>T p.G50= Synonymous 1/2 - 15
5-137801601-CG-C c.151del p.A51Pfs*50 Frameshift 1/2 - 1
5-137801601-G-A c.151G>A p.A51T Missense 1/2 - 43
5-137801601-G-C c.151G>C p.A51P Missense 1/2 - 8
5-137801601-GC-AA c.151_152delinsAA p.A51N Missense 1/2 - 14
5-137801601-GC-CA c.151_152delinsCA p.A51H Missense 1/2 - 10
5-137801601-GCC-AAG c.151_153delinsAAG p.A51K Missense 1/2 - 14
5-137801601-GCC-CAA c.151_153delinsCAA p.A51Q Missense 1/2 - 1
5-137801601-GC-CG c.151_152delinsCG p.A51R Missense 1/2 - 25
5-137801601-GCC-TAA c.151_153delinsTAA p.A51* Nonsense 1/2 - 19
5-137801601-GCC-TGG c.151_153delinsTGG p.A51W Missense 1/2 - 20
5-137801601-GC-TA c.151_152delinsTA p.A51Y Missense 1/2 - 7
5-137801601-GC-TG c.151_152delinsTG p.A51C Missense 1/2 - 9
5-137801601-GC-TT c.151_152delinsTT p.A51F Missense 1/2 - 15
5-137801601-G-T c.151G>T p.A51S Missense 1/2 - 14
5-137801602-C-A c.152C>A p.A51D Missense 1/2 - 35
5-137801602-CC-AG c.152_153delinsAG p.A51E Missense 1/2 - 24
5-137801602-C-G c.152C>G p.A51G Missense 1/2 - 20
5-137801602-C-T c.152C>T p.A51V Missense 1/2 - 30
5-137801603-C-A c.153C>A p.A51= Synonymous 1/2 - 25
5-137801603-C-CAAG c.153_154insAAG p.A51_A52insK InFrameInsertion 1/2 - 1
5-137801603-C-G c.153C>G p.A51= Synonymous 1/2 - 28
5-137801603-C-T c.153C>T p.A51= Synonymous 1/2 - 30
5-137801600-CGCCGCCGGG-C c.154_162del p.A52_A54del InFrameDeletion 1/2 - 1
5-137801604-CG-C c.154del p.A52Pfs*49 Frameshift 1/2 - 1
5-137801604-G-A c.154G>A p.A52T Missense 1/2 - 27
5-137801604-G-C c.154G>C p.A52P Missense 1/2 - 8
5-137801604-GC-AA c.154_155delinsAA p.A52N Missense 1/2 - 13
5-137801604-GCC-AAG c.154_156delinsAAG p.A52K Missense 1/2 - 1
5-137801604-GCC-CAA c.154_156delinsCAA p.A52Q Missense 1/2 - 9
5-137801604-GC-CG c.154_155delinsCG p.A52R Missense 1/2 - 5
5-137801604-GC-CT c.154_155delinsCT p.A52L Missense 1/2 - 1
5-137801604-GCC-TGG c.154_156delinsTGG p.A52W Missense 1/2 - 10
5-137801604-GC-TG c.154_155delinsTG p.A52C Missense 1/2 - 25
5-137801604-GC-TT c.154_155delinsTT p.A52F Missense 1/2 - 10
5-137801604-G-T c.154G>T p.A52S Missense 1/2 - 15
5-137801605-C-A c.155C>A p.A52D Missense 1/2 - 22
5-137801605-CC-AG c.155_156delinsAG p.A52E Missense 1/2 - 23
5-137801605-C-G c.155C>G p.A52G Missense 1/2 - 13
5-137801605-C-T c.155C>T p.A52V Missense 1/2 - 34
5-137801605-C-CCCA c.156_157insCAC p.A52_G53insH InFrameInsertion 1/2 - 1
5-137801606-C-A c.156C>A p.A52= Synonymous 1/2 - 14
5-137801606-C-CCAG c.156_157insCAG p.A52_G53insQ InFrameInsertion 1/2 - 1
5-137801606-C-G c.156C>G p.A52= Synonymous 1/2 - 17
5-137801606-C-T c.156C>T p.A52= Synonymous 1/2 - 24
5-137801607-G-A c.157G>A p.G53R Missense 1/2 - 23
5-137801607-G-C c.157G>C p.G53R Missense 1/2 - 14
5-137801607-GG-AC c.157_158delinsAC p.G53T Missense 1/2 - 1
5-137801607-GGG-AGC c.157_159delinsAGC p.G53S Missense 1/2 - 6
5-137801607-GGG-TGT c.157_159delinsTGT p.G53C Missense 1/2 - 3
5-137801607-G-T c.157G>T p.G53W Missense 1/2 - 6
5-137801608-G-A c.158G>A p.G53E Missense 1/2 - 15
5-137801608-G-C c.158G>C p.G53A Missense 1/2 - 13
5-137801608-GG-AC c.158_159delinsAC p.G53D Missense 1/2 - 6
5-137801608-G-GTT c.158_159insTT p.A54Wfs*48 Frameshift 1/2 - 1
5-137801608-G-T c.158G>T p.G53V Missense 1/2 - 3
5-137801609-G-A c.159G>A p.G53= Synonymous 1/2 - 14
5-137801609-G-C c.159G>C p.G53= Synonymous 1/2 - 11
5-137801609-G-GCAC c.159_160insCAC p.G53_A54insH InFrameInsertion 1/2 - 1
5-137801609-G-GCCC c.159_160insCCC p.G53_A54insP InFrameInsertion 1/2 - 1
5-137801609-G-T c.159G>T p.G53= Synonymous 1/2 - 6
5-137801606-CG-C c.160del p.A54Pfs*47 Frameshift 1/2 - 1
5-137801610-G-A c.160G>A p.A54T Missense 1/2 - 29
5-137801610-G-C c.160G>C p.A54P Missense 1/2 - 4
5-137801610-GC-AA c.160_161delinsAA p.A54N Missense 1/2 - 16
5-137801610-GC-AT c.160_161delinsAT p.A54I Missense 1/2 - 7
5-137801610-GC-CA c.160_161delinsCA p.A54H Missense 1/2 - 9
5-137801610-GCC-AAG c.160_162delinsAAG p.A54K Missense 1/2 - 4
5-137801610-GC-CG c.160_161delinsCG p.A54R Missense 1/2 - 17
5-137801610-GC-CT c.160_161delinsCT p.A54L Missense 1/2 - 23
5-137801610-GCC-TAA c.160_162delinsTAA p.A54* Nonsense 1/2 - 24
5-137801610-GC-TA c.160_161delinsTA p.A54Y Missense 1/2 - 28
5-137801610-GC-TG c.160_161delinsTG p.A54C Missense 1/2 - 10
5-137801610-GC-TT c.160_161delinsTT p.A54F Missense 1/2 - 17
5-137801610-G-GAT c.160_161insAT p.A54Dfs*48 Frameshift 1/2 - 1
5-137801610-G-T c.160G>T p.A54S Missense 1/2 - 13
5-137801610-G-GCAC c.161_162insACC p.P55dup InFrameInsertion 1/2 - 1
5-137801611-C-A c.161C>A p.A54D Missense 1/2 - 19
5-137801611-CC-AG c.161_162delinsAG p.A54E Missense 1/2 - 15
5-137801611-C-G c.161C>G p.A54G Missense 1/2 - 11
5-137801611-C-T c.161C>T p.A54V Missense 1/2 - 15
5-137801607-GGGGCCCCAGA-G c.162_171del p.P55Afs*43 Frameshift 1/2 - 1
5-137801612-C-A c.162C>A p.A54= Synonymous 1/2 - 29
5-137801612-C-G c.162C>G p.A54= Synonymous 1/2 - 30
5-137801612-C-T c.162C>T p.A54= Synonymous 1/2 - 36
5-137801611-C-CCCA c.163_164insACC p.A54_P55insH InFrameInsertion 1/2 - 1
5-137801611-C-CCCAATCCAGATATATGATTTGCAAATATTTT c.163_164insAATCCAGATATATGATTTGCAAATATTTTCC p.P55Qfs*63 Frameshift 1/2 - 1
5-137801613-C-A c.163C>A p.P55T Missense 1/2 - 3
5-137801613-CC-GT c.163_164delinsGT p.P55V Missense 1/2 - 1
5-137801613-C-G c.163C>G p.P55A Missense 1/2 - 7
5-137801613-C-T c.163C>T p.P55S Missense 1/2 - 26
5-137801610-GC-G c.164del p.P55Qfs*46 Frameshift 1/2 - 1
5-137801614-C-A c.164C>A p.P55Q Missense 1/2 - 5
5-137801614-CA-AT c.164_165delinsAT p.P55H Missense 1/2 - 1
5-137801614-C-G c.164C>G p.P55R Missense 1/2 - 9
5-137801614-C-T c.164C>T p.P55L Missense 1/2 - 17
5-137801615-A-AAT c.165_166insAT p.E56Mfs*46 Frameshift 1/2 - 1
5-137801615-A-AT c.165_166insT p.E56* Nonsense 1/2 - 1
5-137801615-A-C c.165A>C p.P55= Synonymous 1/2 - 8
5-137801615-A-G c.165A>G p.P55= Synonymous 1/2 - 11
5-137801615-A-T c.165A>T p.P55= Synonymous 1/2 - 11
5-137801615-CAGAGGGCAGCGGCAGCAACAGCAGCAGCAGCAGCAGCGGGGGCGGTGGAGGCGGCGGGG-C c.165_223del p.E56Rfs*32 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 - 1
5-137801616-G-A c.166G>A p.E56K Missense 1/2 - 27
5-137801616-GA-AG c.166_167delinsAG p.E56R Missense 1/2 - 1
5-137801616-GA-AT c.166_167delinsAT p.E56M Missense 1/2 - 1
5-137801616-GA-TC c.166_167inv p.E56S Missense 1/2 - 1
5-137801616-G-C c.166G>C p.E56Q Missense 1/2 - 11
5-137801616-G-T c.166G>T p.E56* Nonsense 1/2 - 6
5-137801617-A-C c.167A>C p.E56A Missense 1/2 - 16
5-137801617-A-G c.167A>G p.E56G Missense 1/2 - 14
5-137801617-A-T c.167A>T p.E56V Missense 1/2 - 8
5-137801618-G-A c.168G>A p.E56= Synonymous 1/2 - 18
5-137801618-G-C c.168G>C p.E56D Missense 1/2 - 5
5-137801618-G-T c.168G>T p.E56D Missense 1/2 - 9
5-137801617-AGG-A c.169_170del p.G57Qfs*50 Frameshift 1/2 - 1
5-137801617-AGGGCAGCGGCAGCAACAGCAGCAGCAGCAGCAGCGGGGGCGGTGGAGGCGGCGGGGGCG-A c.169_227del p.G57Qfs*31 InFrameDeletion 1/2 - 1
5-137801619-G-A c.169G>A p.G57S Missense 1/2 - 22
5-137801619-G-C c.169G>C p.G57R Missense 1/2 - 9
5-137801619-GG-AC c.169_170delinsAC p.G57T Missense 1/2 - 2
5-137801619-GG-CA c.169_170delinsCA p.G57H Missense 1/2 - 3
5-137801619-GGC-TGA c.169_171delinsTGA p.G57* Nonsense 1/2 - 1
5-137801619-GGC-TGG c.169_171delinsTGG p.G57W Missense 1/2 - 1
5-137801619-G-T c.169G>T p.G57C Missense 1/2 - 9
5-137801617-AG-A c.170del p.G57Afs*44 Frameshift 1/2 - 1
5-137801620-G-A c.170G>A p.G57D Missense 1/2 - 16
5-137801620-G-C c.170G>C p.G57A Missense 1/2 - 8
5-137801620-GC-AG c.170_171delinsAG p.G57E Missense 1/2 - 6
5-137801620-G-T c.170G>T p.G57V Missense 1/2 - 5
5-137801621-C-A c.171C>A p.G57= Synonymous 1/2 - 12
5-137801621-C-CTCCG c.171_172insTCCG p.G59Efs*50 Frameshift 1/2 - 1
5-137801621-C-G c.171C>G p.G57= Synonymous 1/2 - 11
5-137801621-C-T c.171C>T p.G57= Synonymous 1/2 - 19
5-137801622-A-G c.172A>G p.S58G Missense 1/2 - 10
5-137801622-AG-CC c.172_173delinsCC p.S58P Missense 1/2 - 4
5-137801622-AGC-CAA c.172_174delinsCAA p.S58Q Missense 1/2 - 2
5-137801622-AG-CT c.172_173inv p.S58L Missense 1/2 - 5
5-137801622-AGC-TGA c.172_174delinsTGA p.S58* Nonsense 1/2 - 3
5-137801622-AG-GA c.172_173delinsGA p.S58D Missense 1/2 - 2
5-137801622-AG-GC c.172_173delinsGC p.S58A Missense 1/2 - 12
5-137801622-AG-GT c.172_173delinsGT p.S58V Missense 1/2 - 1
5-137801622-AG-TT c.172_173delinsTT p.S58F Missense 1/2 - 3
5-137801622-A-T c.172A>T p.S58C Missense 1/2 - 5
5-137801623-G-A c.173G>A p.S58N Missense 1/2 - 21
5-137801623-G-C c.173G>C p.S58T Missense 1/2 - 2
5-137801623-G-GA c.173_174insA p.S58Rfs*50 Frameshift 1/2 - 1
5-137801623-G-T c.173G>T p.S58I Missense 1/2 - 6
5-137801622-A-C c.172A>C p.S58R Missense 1/2 - 9
5-137801624-C-A c.174C>A p.S58R Missense 1/2 - 12
5-137801624-C-G c.174C>G p.S58R Missense 1/2 - 8
5-137801624-C-T c.174C>T p.S58= Synonymous 1/2 - 22
5-137801620-GCAGCGGCAGCAA-G c.175_186del p.G59_S62del InFrameDeletion 1/2 - 1
5-137801624-C-CGAG c.175_176insAGG p.S58_G59insE InFrameInsertion 1/2 - 1
5-137801624-C-CGTG c.175_176insTGG p.S58_G59insV InFrameInsertion 1/2 - 1
5-137801624-C-CGTT c.175_176insTTG p.S58_G59insV InFrameInsertion 1/2 - 1
5-137801625-CGGCAGCAACAGCAGCAGCAGCAGCAGCGGGGGCGGTGGAGGCGGCGGGGGCGGCAGCAA-C c.175_233del p.G59Qfs*29 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 - 1
5-137801625-G-A c.175G>A p.G59S Missense 1/2 - 16
5-137801625-G-C c.175G>C p.G59R Missense 1/2 - 10
5-137801625-GG-AA c.175_176delinsAA p.G59N Missense 1/2 - 1
5-137801625-GG-AC c.175_176delinsAC p.G59T Missense 1/2 - 1
5-137801625-GG-AT c.175_176delinsAT p.G59I Missense 1/2 - 1
5-137801625-GG-CA c.175_176delinsCA p.G59H Missense 1/2 - 2
5-137801625-GGC-AAG c.175_177delinsAAG p.G59K Missense 1/2 - 1
5-137801625-GGC-ATG c.175_177delinsATG p.G59M Missense 1/2 - 2
5-137801625-GG-CC c.175_176inv p.G59P Missense 1/2 - 1
5-137801625-GGC-CAA c.175_177delinsCAA p.G59Q Missense 1/2 - 1
5-137801625-GG-CT c.175_176delinsCT p.G59L Missense 1/2 - 2
5-137801625-GGC-TGG c.175_177delinsTGG p.G59W Missense 1/2 - 1
5-137801625-GG-TA c.175_176delinsTA p.G59Y Missense 1/2 - 1
5-137801625-G-GTGGAGTA c.175_176insTGGAGTA p.G59Vfs*3 Frameshift 1/2 - 1
5-137801625-GG-TT c.175_176delinsTT p.G59F Missense 1/2 - 1
5-137801625-G-T c.175G>T p.G59C Missense 1/2 - 3
5-137801624-C-CGGGGGGG c.176_177insGGGGGGG p.S60Gfs*50 Frameshift 1/2 - 2
5-137801624-CG-C c.176del p.G59Afs*42 Frameshift 1/2 - 1
5-137801626-G-A c.176G>A p.G59D Missense 1/2 - 11
5-137801626-G-C c.176G>C p.G59A Missense 1/2 - 8
5-137801626-GC-AG c.176_177delinsAG p.G59E Missense 1/2 - 6
5-137801626-G-GTAAA c.176_177insTAAA p.S60Kfs*49 Frameshift 1/2 - 1
5-137801626-G-T c.176G>T p.G59V Missense 1/2 - 3
5-137801626-G-GC c.177dup p.S60Qfs*48 Frameshift 1/2 - 1
5-137801627-C-A c.177C>A p.G59= Synonymous 1/2 - 10
5-137801627-C-CT c.177_178insT p.S60* Nonsense 1/2 - 2
5-137801627-C-G c.177C>G p.G59= Synonymous 1/2 - 11
5-137801627-C-T c.177C>T p.G59= Synonymous 1/2 - 12
5-137801628-A-G c.178A>G p.S60G Missense 1/2 - 8
5-137801628-AG-CA c.178_179delinsCA p.S60H Missense 1/2 - 1
5-137801628-AG-CC c.178_179delinsCC p.S60P Missense 1/2 - 5
5-137801628-AGC-CAA c.178_180delinsCAA p.S60Q Missense 1/2 - 1
5-137801628-AG-CT c.178_179inv p.S60L Missense 1/2 - 3
5-137801628-AGC-TGA c.178_180delinsTGA p.S60* Nonsense 1/2 - 3
5-137801628-AGC-TGG c.178_180delinsTGG p.S60W Missense 1/2 - 2
5-137801628-AG-GA c.178_179delinsGA p.S60D Missense 1/2 - 1
5-137801628-AG-GC c.178_179delinsGC p.S60A Missense 1/2 - 5
5-137801628-AG-TA c.178_179delinsTA p.S60Y Missense 1/2 - 1
5-137801628-AG-TT c.178_179delinsTT p.S60F Missense 1/2 - 10
5-137801628-A-T c.178A>T p.S60C Missense 1/2 - 5
5-137801629-G-A c.179G>A p.S60N Missense 1/2 - 17
5-137801629-G-C c.179G>C p.S60T Missense 1/2 - 7
5-137801629-G-GGCCGGGTGGAGGCCC c.179_180insGCCGGGTGGAGGCCC p.S60delinsRPGGGP MultiAAMissense 1/2 - 1
5-137801629-G-GTCTGCAT c.179_180insTCTGCAT p.N61Lfs*49 Frameshift 1/2 - 1
5-137801629-G-T c.179G>T p.S60I Missense 1/2 - 3
5-137801628-A-C c.178A>C p.S60R Missense 1/2 - 7
5-137801629-G-GC c.180dup p.N61Qfs*47 Frameshift 1/2 - 1
5-137801630-C-A c.180C>A p.S60R Missense 1/2 - 10
5-137801630-C-G c.180C>G p.S60R Missense 1/2 - 6
5-137801630-C-T c.180C>T p.S60= Synonymous 1/2 - 20
5-137801631-AA-GC c.181_182delinsGC p.N61A Missense 1/2 - 2
5-137801631-A-C c.181A>C p.N61H Missense 1/2 - 6
5-137801631-A-G c.181A>G p.N61D Missense 1/2 - 6
5-137801631-A-T c.181A>T p.N61Y Missense 1/2 - 3
5-137801630-C-CA c.182dup p.N61Kfs*47 Frameshift 1/2 - 1
5-137801632-A-C c.182A>C p.N61T Missense 1/2 - 6
5-137801632-A-G c.182A>G p.N61S Missense 1/2 - 15
5-137801632-A-T c.182A>T p.N61I Missense 1/2 - 7
5-137801633-C-A c.183C>A p.N61K Missense 1/2 - 7
5-137801633-C-CGG c.183_184insGG p.S62Gfs*40 Frameshift 1/2 - 1
5-137801633-C-G c.183C>G p.N61K Missense 1/2 - 5
5-137801633-C-T c.183C>T p.N61= Synonymous 1/2 - 13
5-137801634-A-G c.184A>G p.S62G Missense 1/2 - 13
5-137801634-AG-CC c.184_185delinsCC p.S62P Missense 1/2 - 3
5-137801634-AGC-GAG c.184_186delinsGAG p.S62E Missense 1/2 - 1
5-137801634-AG-CT c.184_185inv p.S62L Missense 1/2 - 5
5-137801634-AGC-TGA c.184_186delinsTGA p.S62* Nonsense 1/2 - 4
5-137801634-AGC-TGG c.184_186delinsTGG p.S62W Missense 1/2 - 1
5-137801634-AG-GC c.184_185delinsGC p.S62A Missense 1/2 - 3
5-137801634-AG-GT c.184_185delinsGT p.S62V Missense 1/2 - 1
5-137801634-AG-TA c.184_185delinsTA p.S62Y Missense 1/2 - 3
5-137801634-AG-TT c.184_185delinsTT p.S62F Missense 1/2 - 7
5-137801634-A-T c.184A>T p.S62C Missense 1/2 - 5
5-137801635-G-A c.185G>A p.S62N Missense 1/2 - 22
5-137801635-G-C c.185G>C p.S62T Missense 1/2 - 7
5-137801635-GC-AG c.185_186delinsAG p.S62K Missense 1/2 - 1
5-137801635-G-T c.185G>T p.S62I Missense 1/2 - 3
5-137801634-A-C c.184A>C p.S62R Missense 1/2 - 9
5-137801636-C-A c.186C>A p.S62R Missense 1/2 - 7
5-137801636-C-CCCG c.186_187insCCG p.S62_S63insP InFrameInsertion 1/2 - 1
5-137801636-C-CT c.186_187insT p.S63* Nonsense 1/2 - 3
5-137801636-C-G c.186C>G p.S62R Missense 1/2 - 5
5-137801636-C-T c.186C>T p.S62= Synonymous 1/2 - 20
5-137801637-A-ACCTCG c.187_188insCCTCG p.S63Tfs*40 Frameshift 1/2 - 1
5-137801637-A-G c.187A>G p.S63G Missense 1/2 - 13
5-137801637-AG-CA c.187_188delinsCA p.S63H Missense 1/2 - 1
5-137801637-AG-CC c.187_188delinsCC p.S63P Missense 1/2 - 6
5-137801637-AGC-GAG c.187_189delinsGAG p.S63E Missense 1/2 - 1
5-137801637-AG-CT c.187_188inv p.S63L Missense 1/2 - 7
5-137801637-AGC-TGG c.187_189delinsTGG p.S63W Missense 1/2 - 1
5-137801637-AG-GA c.187_188delinsGA p.S63D Missense 1/2 - 1
5-137801637-AG-GC c.187_188delinsGC p.S63A Missense 1/2 - 6
5-137801637-AG-TA c.187_188delinsTA p.S63Y Missense 1/2 - 4
5-137801637-AG-TT c.187_188delinsTT p.S63F Missense 1/2 - 6
5-137801637-A-T c.187A>T p.S63C Missense 1/2 - 9
5-137801637-CAGCAGCAGCAGCAGCGGGG-C c.187_205del p.S63Afs*32 Frameshift 1/2 - 1
5-137801638-G-A c.188G>A p.S63N Missense 1/2 - 12
5-137801638-G-C c.188G>C p.S63T Missense 1/2 - 6
5-137801638-G-T c.188G>T p.S63I Missense 1/2 - 4
5-137801637-A-C c.187A>C p.S63R Missense 1/2 - 10
5-137801639-C-A c.189C>A p.S63R Missense 1/2 - 13
5-137801639-C-G c.189C>G p.S63R Missense 1/2 - 12
5-137801639-C-T c.189C>T p.S63= Synonymous 1/2 - 20
5-137801639-GCA-G c.189_190del p.S63Rfs*44 Frameshift 1/2 - 1
5-137801637-A-AGCACCGGT c.190_191insCCGGTGCA p.S64Tfs*40 Frameshift 1/2 - 1
5-137801640-A-G c.190A>G p.S64G Missense 1/2 - 11
5-137801640-AG-CC c.190_191delinsCC p.S64P Missense 1/2 - 4
5-137801640-AG-CT c.190_191inv p.S64L Missense 1/2 - 6
5-137801640-AG-GC c.190_191delinsGC p.S64A Missense 1/2 - 6
5-137801640-AG-GT c.190_191delinsGT p.S64V Missense 1/2 - 2
5-137801640-AG-TA c.190_191delinsTA p.S64Y Missense 1/2 - 2
5-137801640-AG-TT c.190_191delinsTT p.S64F Missense 1/2 - 4
5-137801640-A-T c.190A>T p.S64C Missense 1/2 - 6
5-137801640-CAGCAGCAGCAGCGGGGGCGGTGGAGGCGGCGGGGGCGGCAGCAACAGCAGCAGCAGCAG-C c.190_248del p.S64Qfs*24 Frameshift 1/2 - 1
5-137801641-G-A c.191G>A p.S64N Missense 1/2 - 15
5-137801641-G-C c.191G>C p.S64T Missense 1/2 - 8
5-137801641-G-T c.191G>T p.S64I Missense 1/2 - 6
5-137801640-A-C c.190A>C p.S64R Missense 1/2 - 7
5-137801642-C-A c.192C>A p.S64R Missense 1/2 - 4
5-137801642-C-CT c.192_193insT p.S65* Nonsense 1/2 - 1
5-137801642-C-G c.192C>G p.S64R Missense 1/2 - 6
5-137801642-C-T c.192C>T p.S64= Synonymous 1/2 - 17
5-137801643-A-C c.193A>C p.S65R Missense 1/2 - 7
5-137801643-A-G c.193A>G p.S65G Missense 1/2 - 14
5-137801643-AG-CC c.193_194delinsCC p.S65P Missense 1/2 - 5
5-137801643-AG-CT c.193_194inv p.S65L Missense 1/2 - 5
5-137801643-AGC-TGA c.193_195delinsTGA p.S65* Nonsense 1/2 - 5
5-137801643-AGC-TGG c.193_195delinsTGG p.S65W Missense 1/2 - 3
5-137801643-AG-GC c.193_194delinsGC p.S65A Missense 1/2 - 13
5-137801643-AG-TA c.193_194delinsTA p.S65Y Missense 1/2 - 1
5-137801643-AG-TT c.193_194delinsTT p.S65F Missense 1/2 - 6
5-137801643-A-T c.193A>T p.S65C Missense 1/2 - 10
5-137801644-G-A c.194G>A p.S65N Missense 1/2 - 18
5-137801644-G-C c.194G>C p.S65T Missense 1/2 - 39
5-137801644-G-T c.194G>T p.S65I Missense 1/2 - 5
5-137801645-C-A c.195C>A p.S65R Missense 1/2 - 1
5-137801645-C-G c.195C>G p.S65R Missense 1/2 - 8
5-137801645-C-T c.195C>T p.S65= Synonymous 1/2 - 15
5-137801645-GCA-G c.195_196del p.S65Rfs*42 Frameshift 1/2 - 1
5-137801646-A-AAGAAAGAGGAGGAGG c.196_197insAGAAAGAGGAGGAGG p.S66delinsKKEEEG MultiAAMissense 1/2 - 1
5-137801646-A-C c.196A>C p.S66R Missense 1/2 - 6
5-137801646-A-G c.196A>G p.S66G Missense 1/2 - 10
5-137801646-AG-CC c.196_197delinsCC p.S66P Missense 1/2 - 6
5-137801646-AGC-GAG c.196_198delinsGAG p.S66E Missense 1/2 - 1
5-137801646-AG-CT c.196_197inv p.S66L Missense 1/2 - 3
5-137801646-AGC-TGA c.196_198delinsTGA p.S66* Nonsense 1/2 - 1
5-137801646-AG-GC c.196_197delinsGC p.S66A Missense 1/2 - 3
5-137801646-AG-TA c.196_197delinsTA p.S66Y Missense 1/2 - 5
5-137801646-AG-TT c.196_197delinsTT p.S66F Missense 1/2 - 5
5-137801646-A-T c.196A>T p.S66C Missense 1/2 - 3
5-137801647-G-A c.197G>A p.S66N Missense 1/2 - 14
5-137801647-G-C c.197G>C p.S66T Missense 1/2 - 13
5-137801647-G-T c.197G>T p.S66I Missense 1/2 - 7
5-137801647-G-GC c.198dup p.S67Qfs*41 Frameshift 1/2 - 1
5-137801648-C-A c.198C>A p.S66R Missense 1/2 - 6
5-137801648-C-CT c.198_199insT p.S67* Nonsense 1/2 - 1
5-137801648-C-G c.198C>G p.S66R Missense 1/2 - 4
5-137801648-C-T c.198C>T p.S66= Synonymous 1/2 - 18
5-137801648-GC-G c.198del p.S66Rfs*35 Frameshift 1/2 - 1
5-137801632-ACAG-A c.199_201del p.S67del InFrameDeletion 1/2 - 5
5-137801649-A-ATGGCGGAGC c.199_200insTGGCGGAGC p.S67delinsMAER MultiAAMissense 1/2 - 1
5-137801649-A-C c.199A>C p.S67R Missense 1/2 - 5
5-137801649-A-G c.199A>G p.S67G Missense 1/2 - 11
5-137801649-AG-CC c.199_200delinsCC p.S67P Missense 1/2 - 5
5-137801649-AGC-GAG c.199_201delinsGAG p.S67E Missense 1/2 - 1
5-137801649-AG-CT c.199_200inv p.S67L Missense 1/2 - 7
5-137801649-AGC-TGA c.199_201delinsTGA p.S67* Nonsense 1/2 - 2
5-137801649-AG-GC c.199_200delinsGC p.S67A Missense 1/2 - 8
5-137801649-AG-GT c.199_200delinsGT p.S67V Missense 1/2 - 1
5-137801649-AG-TA c.199_200delinsTA p.S67Y Missense 1/2 - 5
5-137801649-AG-TT c.199_200delinsTT p.S67F Missense 1/2 - 10
5-137801649-A-T c.199A>T p.S67C Missense 1/2 - 2
5-137801650-G-A c.200G>A p.S67N Missense 1/2 - 11
5-137801650-G-C c.200G>C p.S67T Missense 1/2 - 4
5-137801650-G-T c.200G>T p.S67I Missense 1/2 - 4
5-137801651-C-A c.201C>A p.S67R Missense 1/2 - 6
5-137801651-C-G c.201C>G p.S67R Missense 1/2 - 3
5-137801651-C-T c.201C>T p.S67= Synonymous 1/2 - 13
5-137801652-G-A c.202G>A p.G68R Missense 1/2 - 12
5-137801652-G-C c.202G>C p.G68R Missense 1/2 - 9
5-137801652-GGG-AGC c.202_204delinsAGC p.G68S Missense 1/2 - 8
5-137801652-GGG-TAT c.202_204delinsTAT p.G68Y Missense 1/2 - 1
5-137801652-GGG-TGT c.202_204delinsTGT p.G68C Missense 1/2 - 2
5-137801652-G-GTGCACT c.202_203insTGCACT p.G68delinsVHW MultiAAMissense 1/2 - 1
5-137801652-G-T c.202G>T p.G68W Missense 1/2 - 7
5-137801653-G-A c.203G>A p.G68E Missense 1/2 - 19
5-137801653-G-C c.203G>C p.G68A Missense 1/2 - 6
5-137801653-GG-AC c.203_204delinsAC p.G68D Missense 1/2 - 2
5-137801653-G-T c.203G>T p.G68V Missense 1/2 - 11
5-137801654-G-A c.204G>A p.G68= Synonymous 1/2 - 14
5-137801654-G-C c.204G>C p.G68= Synonymous 1/2 - 10
5-137801654-G-T c.204G>T p.G68= Synonymous 1/2 - 13
5-137801655-G-A c.205G>A p.G69S Missense 1/2 - 18
5-137801655-G-C c.205G>C p.G69R Missense 1/2 - 13
5-137801655-GG-AC c.205_206delinsAC p.G69T Missense 1/2 - 2
5-137801655-GGC-TGA c.205_207delinsTGA p.G69* Nonsense 1/2 - 2
5-137801655-G-GTC c.205_206insTC p.G69Vfs*33 Frameshift 1/2 - 1
5-137801655-GG-TT c.205_206delinsTT p.G69F Missense 1/2 - 1
5-137801655-G-T c.205G>T p.G69C Missense 1/2 - 12
5-137801651-CG-C c.206del p.G69Afs*32 Frameshift 1/2 - 3
5-137801656-G-A c.206G>A p.G69D Missense 1/2 - 8
5-137801656-G-C c.206G>C p.G69A Missense 1/2 - 5
5-137801656-GC-AG c.206_207delinsAG p.G69E Missense 1/2 - 8
5-137801656-G-T c.206G>T p.G69V Missense 1/2 - 5
5-137801657-C-A c.207C>A p.G69= Synonymous 1/2 - 10
5-137801657-C-G c.207C>G p.G69= Synonymous 1/2 - 13
5-137801657-C-T c.207C>T p.G69= Synonymous 1/2 - 11
5-137801658-G-A c.208G>A p.G70S Missense 1/2 - 15
5-137801658-G-C c.208G>C p.G70R Missense 1/2 - 10
5-137801658-GG-AC c.208_209delinsAC p.G70T Missense 1/2 - 3
5-137801658-GG-TA c.208_209delinsTA p.G70Y Missense 1/2 - 1
5-137801658-GGT-AAG c.208_210delinsAAG p.G70K Missense 1/2 - 1
5-137801658-GGT-TGA c.208_210delinsTGA p.G70* Nonsense 1/2 - 1
5-137801658-GGT-TGG c.208_210delinsTGG p.G70W Missense 1/2 - 2
5-137801658-G-T c.208G>T p.G70C Missense 1/2 - 11
5-137801659-G-A c.209G>A p.G70D Missense 1/2 - 14
5-137801659-G-C c.209G>C p.G70A Missense 1/2 - 13
5-137801659-G-T c.209G>T p.G70V Missense 1/2 - 7
5-137801659-GT-AG c.209_210delinsAG p.G70E Missense 1/2 - 4
5-137801657-CGGT-C c.210_212del p.G76del InFrameDeletion 1/2 - 2
5-137801659-G-GTCCACCCC c.210_211insCCACCCCT p.G71Pfs*33 Frameshift 1/2 - 1
5-137801660-T-A c.210T>A p.G70= Synonymous 1/2 - 15
5-137801660-T-C c.210T>C p.G70= Synonymous 1/2 - 17
5-137801660-T-G c.210T>G p.G70= Synonymous 1/2 - 14
5-137801659-G-GTGCGGGCCCGGC c.211_212insCGGGCCCGGCTG p.G70_G71insAGPA InFrameInsertion 1/2 - 1
5-137801661-G-A c.211G>A p.G71R Missense 1/2 - 16
5-137801661-G-C c.211G>C p.G71R Missense 1/2 - 7
5-137801661-GG-AA c.211_212delinsAA p.G71K Missense 1/2 - 1
5-137801661-GGA-AAC c.211_213delinsAAC p.G71N Missense 1/2 - 2
5-137801661-GGA-AGC c.211_213delinsAGC p.G71S Missense 1/2 - 8
5-137801661-GGA-ATG c.211_213delinsATG p.G71M Missense 1/2 - 1
5-137801661-GG-AC c.211_212delinsAC p.G71T Missense 1/2 - 2
5-137801661-GGA-CAT c.211_213delinsCAT p.G71H Missense 1/2 - 1
5-137801661-GG-AT c.211_212delinsAT p.G71I Missense 1/2 - 1
5-137801661-GGA-TAT c.211_213delinsTAT p.G71Y Missense 1/2 - 1
5-137801661-GGA-TGG c.211_213delinsTGG p.G71W Missense 1/2 - 3
5-137801661-GGA-TGT c.211_213delinsTGT p.G71C Missense 1/2 - 4
5-137801661-GGA-TTT c.211_213delinsTTT p.G71F Missense 1/2 - 1
5-137801661-GG-CA c.211_212delinsCA p.G71Q Missense 1/2 - 1
5-137801661-GG-CC c.211_212inv p.G71P Missense 1/2 - 1
5-137801661-GG-CT c.211_212delinsCT p.G71L Missense 1/2 - 1
5-137801661-G-T c.211G>T p.G71* Nonsense 1/2 - 7
5-137801660-TG-T c.212del p.G71Efs*30 Frameshift 1/2 - 5
5-137801662-G-A c.212G>A p.G71E Missense 1/2 - 18
5-137801662-GA-AC c.212_213delinsAC p.G71D Missense 1/2 - 4
5-137801662-G-C c.212G>C p.G71A Missense 1/2 - 9
5-137801662-G-T c.212G>T p.G71V Missense 1/2 - 8
5-137801663-A-C c.213A>C p.G71= Synonymous 1/2 - 10
5-137801663-A-G c.213A>G p.G71= Synonymous 1/2 - 11
5-137801663-A-T c.213A>T p.G71= Synonymous 1/2 - 12
5-137801664-G-A c.214G>A p.G72S Missense 1/2 - 25
5-137801664-G-C c.214G>C p.G72R Missense 1/2 - 12
5-137801664-GG-AA c.214_215delinsAA p.G72N Missense 1/2 - 1
5-137801664-GG-AC c.214_215delinsAC p.G72T Missense 1/2 - 2
5-137801664-GG-AT c.214_215delinsAT p.G72I Missense 1/2 - 1
5-137801664-GG-CA c.214_215delinsCA p.G72H Missense 1/2 - 1
5-137801664-GGC-TGA c.214_216delinsTGA p.G72* Nonsense 1/2 - 1
5-137801664-GGC-TGG c.214_216delinsTGG p.G72W Missense 1/2 - 3
5-137801664-G-T c.214G>T p.G72C Missense 1/2 - 12
5-137801663-AG-A c.215del p.G72Afs*29 Frameshift 1/2 - 1
5-137801665-G-A c.215G>A p.G72D Missense 1/2 - 16
5-137801665-G-C c.215G>C p.G72A Missense 1/2 - 7
5-137801665-GC-AG c.215_216delinsAG p.G72E Missense 1/2 - 6
5-137801665-G-T c.215G>T p.G72V Missense 1/2 - 10
5-137801666-C-A c.216C>A p.G72= Synonymous 1/2 - 13
5-137801666-C-CAAT c.216_217insAAT p.G72_G73insN InFrameInsertion 1/2 - 1
5-137801666-C-G c.216C>G p.G72= Synonymous 1/2 - 12
5-137801666-C-T c.216C>T p.G72= Synonymous 1/2 - 17
5-137801666-GC-G c.216del p.G73Afs*28 Frameshift 1/2 - 1
5-137801666-C-CGA c.217_218insAG p.G73Efs*29 Frameshift 1/2 - 1
5-137801667-G-A c.217G>A p.G73S Missense 1/2 - 33
5-137801667-G-C c.217G>C p.G73R Missense 1/2 - 11
5-137801667-GG-AA c.217_218delinsAA p.G73N Missense 1/2 - 1
5-137801667-GG-AC c.217_218delinsAC p.G73T Missense 1/2 - 3
5-137801667-GGC-TGA c.217_219delinsTGA p.G73* Nonsense 1/2 - 1
5-137801667-GGC-TGG c.217_219delinsTGG p.G73W Missense 1/2 - 1
5-137801667-GG-TA c.217_218delinsTA p.G73Y Missense 1/2 - 1
5-137801667-G-T c.217G>T p.G73C Missense 1/2 - 14
5-137801668-G-A c.218G>A p.G73D Missense 1/2 - 11
5-137801668-G-C c.218G>C p.G73A Missense 1/2 - 11
5-137801668-GC-AG c.218_219delinsAG p.G73E Missense 1/2 - 4
5-137801668-G-T c.218G>T p.G73V Missense 1/2 - 5
5-137801666-C-CGGCAA c.219_220insAAGGC p.G74Kfs*29 Frameshift 1/2 - 1
5-137801668-G-GC c.219dup p.G74Rfs*34 Frameshift 1/2 - 1
5-137801669-C-A c.219C>A p.G73= Synonymous 1/2 - 10
5-137801669-C-G c.219C>G p.G73= Synonymous 1/2 - 12
5-137801669-C-T c.219C>T p.G73= Synonymous 1/2 - 12
5-137801669-GC-G c.219del p.G75Afs*26 Frameshift 1/2 - 1
5-137801670-G-A c.220G>A p.G74R Missense 1/2 - 13
5-137801670-G-C c.220G>C p.G74R Missense 1/2 - 9
5-137801670-GG-AA c.220_221delinsAA p.G74K Missense 1/2 - 1
5-137801670-GG-AC c.220_221delinsAC p.G74T Missense 1/2 - 1
5-137801670-GG-CC c.220_221inv p.G74P Missense 1/2 - 1
5-137801670-GGG-AAC c.220_222delinsAAC p.G74N Missense 1/2 - 1
5-137801670-GGG-AGC c.220_222delinsAGC p.G74S Missense 1/2 - 8
5-137801670-GGG-TAT c.220_222delinsTAT p.G74Y Missense 1/2 - 2
5-137801670-GGG-TGT c.220_222delinsTGT p.G74C Missense 1/2 - 6
5-137801670-GGG-TTT c.220_222delinsTTT p.G74F Missense 1/2 - 1
5-137801670-GG-TA c.220_221delinsTA p.G74* Nonsense 1/2 - 1
5-137801670-G-T c.220G>T p.G74W Missense 1/2 - 10
5-137801671-G-A c.221G>A p.G74E Missense 1/2 - 13
5-137801671-G-C c.221G>C p.G74A Missense 1/2 - 9
5-137801671-G-GA c.221_222insA p.G76Rfs*32 Frameshift 1/2 - 1
5-137801671-GG-AC c.221_222delinsAC p.G74D Missense 1/2 - 4
5-137801671-G-T c.221G>T p.G74V Missense 1/2 - 10
5-137801672-G-A c.222G>A p.G74= Synonymous 1/2 - 15
5-137801672-G-C c.222G>C p.G74= Synonymous 1/2 - 15
5-137801672-G-T c.222G>T p.G74= Synonymous 1/2 - 10
5-137801673-G-A c.223G>A p.G75S Missense 1/2 - 13
5-137801673-G-C c.223G>C p.G75R Missense 1/2 - 15
5-137801673-GG-AC c.223_224delinsAC p.G75T Missense 1/2 - 2
5-137801673-GGC-TGG c.223_225delinsTGG p.G75W Missense 1/2 - 1
5-137801673-G-T c.223G>T p.G75C Missense 1/2 - 7
5-137801669-C-CG c.224dup p.G76Rfs*32 Frameshift 1/2 - 1
5-137801669-CG-C c.224del p.G75Afs*26 Frameshift 1/2 - 1
5-137801674-G-A c.224G>A p.G75D Missense 1/2 - 22
5-137801674-G-C c.224G>C p.G75A Missense 1/2 - 9
5-137801674-GC-AG c.224_225delinsAG p.G75E Missense 1/2 - 5
5-137801674-G-T c.224G>T p.G75V Missense 1/2 - 31
5-137801674-G-GC c.225dup p.G76Rfs*32 Frameshift 1/2 - 2
5-137801675-C-A c.225C>A p.G75= Synonymous 1/2 - 27
5-137801675-C-G c.225C>G p.G75= Synonymous 1/2 - 25
5-137801675-C-T c.225C>T p.G75= Synonymous 1/2 - 34
5-137801673-GGCGGCAGCAACAGCA-G c.226_240del p.G76_S80del InFrameDeletion 1/2 - 1
5-137801673-GGCGGCAGCAACAGCAGCAGCAGCAGCA-G c.226_252del p.G76_S84del InFrameDeletion 1/2 - 1
5-137801676-G-A c.226G>A p.G76S Missense 1/2 - 23
5-137801676-G-C c.226G>C p.G76R Missense 1/2 - 9
5-137801676-GG-AA c.226_227delinsAA p.G76N Missense 1/2 - 1
5-137801676-GGC-AAG c.226_228delinsAAG p.G76K Missense 1/2 - 2
5-137801676-G-GCATCTTGTCTCCCAGC c.226_227insCATCTTGTCTCCCAGC p.G76Afs*37 Frameshift 1/2 - 1
5-137801676-GGC-TGA c.226_228delinsTGA p.G76* Nonsense 1/2 - 1
5-137801676-GGC-TGG c.226_228delinsTGG p.G76W Missense 1/2 - 1
5-137801676-G-T c.226G>T p.G76C Missense 1/2 - 9
5-137801675-C-CG c.227dup p.S77Qfs*31 Frameshift 1/2 - 1
5-137801676-G-GGA c.227_228insAG p.S77Afs*25 Frameshift 1/2 - 1
5-137801677-G-A c.227G>A p.G76D Missense 1/2 - 19
5-137801677-G-C c.227G>C p.G76A Missense 1/2 - 14
5-137801677-GC-AG c.227_228delinsAG p.G76E Missense 1/2 - 7
5-137801677-G-T c.227G>T p.G76V Missense 1/2 - 12
5-137801678-C-A c.228C>A p.G76= Synonymous 1/2 - 8
5-137801678-C-G c.228C>G p.G76= Synonymous 1/2 - 9
5-137801678-C-T c.228C>T p.G76= Synonymous 1/2 - 20
5-137801679-A-AC c.229_230insC p.S77Tfs*31 Frameshift 1/2 - 1
5-137801679-A-ATTGGTATATTGATG c.229_230insTTGGTATATTGATG p.S77Ifs*29 Frameshift 1/2 - 1
5-137801679-A-G c.229A>G p.S77G Missense 1/2 - 14
5-137801679-AG-CA c.229_230delinsCA p.S77H Missense 1/2 - 1
5-137801679-AG-CC c.229_230delinsCC p.S77P Missense 1/2 - 5
5-137801679-AGC-CAA c.229_231delinsCAA p.S77Q Missense 1/2 - 1
5-137801679-AGC-GAG c.229_231delinsGAG p.S77E Missense 1/2 - 1
5-137801679-AG-CT c.229_230inv p.S77L Missense 1/2 - 6
5-137801679-AGC-TGA c.229_231delinsTGA p.S77* Nonsense 1/2 - 3
5-137801679-AGC-TGG c.229_231delinsTGG p.S77W Missense 1/2 - 1
5-137801679-AG-GA c.229_230delinsGA p.S77D Missense 1/2 - 2
5-137801679-AG-GC c.229_230delinsGC p.S77A Missense 1/2 - 6
5-137801679-AG-GT c.229_230delinsGT p.S77V Missense 1/2 - 1
5-137801679-AG-TA c.229_230delinsTA p.S77Y Missense 1/2 - 4
5-137801679-AG-TT c.229_230delinsTT p.S77F Missense 1/2 - 6
5-137801679-A-T c.229A>T p.S77C Missense 1/2 - 7
5-137801679-CA-C c.229del p.S77Afs*24 Frameshift 1/2 - 1
5-137801680-G-A c.230G>A p.S77N Missense 1/2 - 14
5-137801680-G-C c.230G>C p.S77T Missense 1/2 - 8
5-137801680-GC-AG c.230_231delinsAG p.S77K Missense 1/2 - 1
5-137801680-GC-TG c.230_231delinsTG p.S77M Missense 1/2 - 1
5-137801680-G-T c.230G>T p.S77I Missense 1/2 - 6
5-137801679-A-C c.229A>C p.S77R Missense 1/2 - 7
5-137801681-C-A c.231C>A p.S77R Missense 1/2 - 7
5-137801681-C-CGG c.231_232insGG p.N78Gfs*24 Frameshift 1/2 - 1
5-137801681-C-G c.231C>G p.S77R Missense 1/2 - 7
5-137801681-C-T c.231C>T p.S77= Synonymous 1/2 - 18
5-137801681-GC-G c.231del p.S77Rfs*24 Frameshift 1/2 - 1
5-137801682-AAC-GAG c.232_234delinsGAG p.N78E Missense 1/2 - 1
5-137801682-AAC-TAA c.232_234delinsTAA p.N78* Nonsense 1/2 - 1
5-137801682-AA-GC c.232_233delinsGC p.N78A Missense 1/2 - 3
5-137801682-AA-GG c.232_233delinsGG p.N78G Missense 1/2 - 1
5-137801682-AA-TG c.232_233delinsTG p.N78C Missense 1/2 - 2
5-137801682-AA-TT c.232_233inv p.N78F Missense 1/2 - 1
5-137801682-A-C c.232A>C p.N78H Missense 1/2 - 5
5-137801682-A-G c.232A>G p.N78D Missense 1/2 - 15
5-137801682-A-T c.232A>T p.N78Y Missense 1/2 - 5
5-137801683-A-C c.233A>C p.N78T Missense 1/2 - 7
5-137801683-A-G c.233A>G p.N78S Missense 1/2 - 14
5-137801683-A-T c.233A>T p.N78I Missense 1/2 - 8
5-137801684-C-A c.234C>A p.N78K Missense 1/2 - 9
5-137801684-C-CT c.234_235insT p.S79* Nonsense 1/2 - 1
5-137801684-C-G c.234C>G p.N78K Missense 1/2 - 12
5-137801684-C-T c.234C>T p.N78= Synonymous 1/2 - 23
5-137801684-C-CA c.235dup p.S79Kfs*29 Frameshift 1/2 - 1
5-137801684-C-CAT c.235_236insTA p.S79Ifs*23 Frameshift 1/2 - 1
5-137801685-A-C c.235A>C p.S79R Missense 1/2 - 6
5-137801685-A-G c.235A>G p.S79G Missense 1/2 - 14
5-137801685-AG-CC c.235_236delinsCC p.S79P Missense 1/2 - 3
5-137801685-AGC-GAG c.235_237delinsGAG p.S79E Missense 1/2 - 3
5-137801685-AG-CT c.235_236inv p.S79L Missense 1/2 - 8
5-137801685-AGC-TGA c.235_237delinsTGA p.S79* Nonsense 1/2 - 2
5-137801685-AG-GA c.235_236delinsGA p.S79D Missense 1/2 - 1
5-137801685-AG-GC c.235_236delinsGC p.S79A Missense 1/2 - 5
5-137801685-AG-TA c.235_236delinsTA p.S79Y Missense 1/2 - 2
5-137801685-AG-TT c.235_236delinsTT p.S79F Missense 1/2 - 5
5-137801685-A-T c.235A>T p.S79C Missense 1/2 - 3
5-137801685-CAG-C c.235_236del p.S79Qfs*28 Frameshift 1/2 - 1
5-137801685-A-AG c.236dup p.S79Rfs*29 Frameshift 1/2 - 1
5-137801686-G-A c.236G>A p.S79N Missense 1/2 - 11
5-137801686-G-C c.236G>C p.S79T Missense 1/2 - 7
5-137801686-G-T c.236G>T p.S79I Missense 1/2 - 7
5-137801687-C-A c.237C>A p.S79R Missense 1/2 - 6
5-137801687-C-CT c.237_238insT p.S80* Nonsense 1/2 - 1
5-137801687-C-G c.237C>G p.S79R Missense 1/2 - 8
5-137801687-C-T c.237C>T p.S79= Synonymous 1/2 - 19
5-137801687-GC-G c.237del p.S79Rfs*22 Frameshift 1/2 - 1
5-137801688-A-G c.238A>G p.S80G Missense 1/2 - 8
5-137801688-AG-CC c.238_239delinsCC p.S80P Missense 1/2 - 5
5-137801688-AG-CT c.238_239inv p.S80L Missense 1/2 - 8
5-137801688-AGC-TGA c.238_240delinsTGA p.S80* Nonsense 1/2 - 1
5-137801688-AGC-TGG c.238_240delinsTGG p.S80W Missense 1/2 - 1
5-137801688-AG-GA c.238_239delinsGA p.S80D Missense 1/2 - 1
5-137801688-AG-GC c.238_239delinsGC p.S80A Missense 1/2 - 7
5-137801688-AG-TA c.238_239delinsTA p.S80Y Missense 1/2 - 4
5-137801688-AG-TT c.238_239delinsTT p.S80F Missense 1/2 - 7
5-137801688-A-T c.238A>T p.S80C Missense 1/2 - 4
5-137801688-CAG-C c.238_239del p.S80Qfs*27 Frameshift 1/2 - 1
5-137801689-G-A c.239G>A p.S80N Missense 1/2 - 13
5-137801689-G-C c.239G>C p.S80T Missense 1/2 - 3
5-137801689-G-T c.239G>T p.S80I Missense 1/2 - 12
5-137801688-A-C c.238A>C p.S80R Missense 1/2 - 11
5-137801689-G-GC c.240dup p.S81Qfs*27 Frameshift 1/2 - 2
5-137801690-C-A c.240C>A p.S80R Missense 1/2 - 18
5-137801690-C-CT c.240_241insT p.S81* Nonsense 1/2 - 2
5-137801690-C-G c.240C>G p.S80R Missense 1/2 - 17
5-137801690-C-T c.240C>T p.S80= Synonymous 1/2 - 18
5-137801690-C-CACA c.241_242insCAA p.S80_S81insT InFrameInsertion 1/2 - 1
5-137801691-A-C c.241A>C p.S81R Missense 1/2 - 5
5-137801691-A-G c.241A>G p.S81G Missense 1/2 - 14
5-137801691-AG-CC c.241_242delinsCC p.S81P Missense 1/2 - 1
5-137801691-AGC-GAG c.241_243delinsGAG p.S81E Missense 1/2 - 1
5-137801691-AG-CT c.241_242inv p.S81L Missense 1/2 - 6
5-137801691-AGC-TGA c.241_243delinsTGA p.S81* Nonsense 1/2 - 1
5-137801691-AGC-TGG c.241_243delinsTGG p.S81W Missense 1/2 - 2
5-137801691-AG-GC c.241_242delinsGC p.S81A Missense 1/2 - 2
5-137801691-AG-TA c.241_242delinsTA p.S81Y Missense 1/2 - 3
5-137801691-AG-TT c.241_242delinsTT p.S81F Missense 1/2 - 4
5-137801691-A-T c.241A>T p.S81C Missense 1/2 - 6
5-137801691-A-AG c.242dup p.S81Rfs*27 Frameshift 1/2 - 1
5-137801692-AG-A c.242del p.S81Tfs*20 Frameshift 1/2 - 2
5-137801692-G-A c.242G>A p.S81N Missense 1/2 - 12
5-137801692-G-C c.242G>C p.S81T Missense 1/2 - 5
5-137801692-G-GTC c.242_243insTC p.S82Pfs*20 Frameshift 1/2 - 1
5-137801692-G-T c.242G>T p.S81I Missense 1/2 - 6
5-137801693-C-A c.243C>A p.S81R Missense 1/2 - 4
5-137801693-C-G c.243C>G p.S81R Missense 1/2 - 4
5-137801693-C-T c.243C>T p.S81= Synonymous 1/2 - 18
5-137801693-GC-G c.243del p.S81Rfs*20 Frameshift 1/2 - 1
5-137801693-C-CA c.244dup p.S82Kfs*26 Frameshift 1/2 - 1
5-137801694-A-G c.244A>G p.S82G Missense 1/2 - 12
5-137801694-AG-CA c.244_245delinsCA p.S82H Missense 1/2 - 1
5-137801694-AG-CC c.244_245delinsCC p.S82P Missense 1/2 - 1
5-137801694-AG-CT c.244_245inv p.S82L Missense 1/2 - 2
5-137801694-AGC-TGA c.244_246delinsTGA p.S82* Nonsense 1/2 - 6
5-137801694-AGC-TGG c.244_246delinsTGG p.S82W Missense 1/2 - 1
5-137801694-AG-GA c.244_245delinsGA p.S82D Missense 1/2 - 1
5-137801694-AG-GC c.244_245delinsGC p.S82A Missense 1/2 - 4
5-137801694-AG-TA c.244_245delinsTA p.S82Y Missense 1/2 - 2
5-137801694-AG-TT c.244_245delinsTT p.S82F Missense 1/2 - 5
5-137801694-A-T c.244A>T p.S82C Missense 1/2 - 3
5-137801683-ACAGCAGCAG-A c.245_253del p.S82_S84del InFrameDeletion 1/2 - 1
5-137801695-G-A c.245G>A p.S82N Missense 1/2 - 10
5-137801695-G-C c.245G>C p.S82T Missense 1/2 - 6
5-137801695-G-T c.245G>T p.S82I Missense 1/2 - 10
5-137801694-A-C c.244A>C p.S82R Missense 1/2 - 8
5-137801696-C-A c.246C>A p.S82R Missense 1/2 - 10
5-137801696-C-CT c.246_247insT p.S83* Nonsense 1/2 - 2
5-137801696-C-G c.246C>G p.S82R Missense 1/2 - 13
5-137801696-C-T c.246C>T p.S82= Synonymous 1/2 - 13
5-137801696-GC-G c.246del p.S82Rfs*19 Frameshift 1/2 - 1
5-137801697-A-G c.247A>G p.S83G Missense 1/2 - 13
5-137801697-AG-CC c.247_248delinsCC p.S83P Missense 1/2 - 8
5-137801697-AG-CT c.247_248inv p.S83L Missense 1/2 - 19
5-137801697-AGC-TGA c.247_249delinsTGA p.S83* Nonsense 1/2 - 4
5-137801697-AGC-TGG c.247_249delinsTGG p.S83W Missense 1/2 - 2
5-137801697-AG-GC c.247_248delinsGC p.S83A Missense 1/2 - 7
5-137801697-AG-GT c.247_248delinsGT p.S83V Missense 1/2 - 2
5-137801697-AG-TA c.247_248delinsTA p.S83Y Missense 1/2 - 7
5-137801697-AG-TT c.247_248delinsTT p.S83F Missense 1/2 - 14
5-137801697-A-T c.247A>T p.S83C Missense 1/2 - 7
5-137801698-G-A c.248G>A p.S83N Missense 1/2 - 14
5-137801698-G-C c.248G>C p.S83T Missense 1/2 - 3
5-137801698-G-T c.248G>T p.S83I Missense 1/2 - 8
5-137801697-A-C c.247A>C p.S83R Missense 1/2 - 13
5-137801699-C-A c.249C>A p.S83R Missense 1/2 - 12
5-137801699-C-CT c.249_250insT p.S84* Nonsense 1/2 - 2
5-137801699-C-G c.249C>G p.S83R Missense 1/2 - 11
5-137801699-C-T c.249C>T p.S83= Synonymous 1/2 - 15
5-137801700-A-C c.250A>C p.S84R Missense 1/2 - 4
5-137801700-A-G c.250A>G p.S84G Missense 1/2 - 10
5-137801700-AG-CC c.250_251delinsCC p.S84P Missense 1/2 - 4
5-137801700-AGC-GAG c.250_252delinsGAG p.S84E Missense 1/2 - 1
5-137801700-AG-CT c.250_251inv p.S84L Missense 1/2 - 17
5-137801700-AGC-TGA c.250_252delinsTGA p.S84* Nonsense 1/2 - 3
5-137801700-AG-GC c.250_251delinsGC p.S84A Missense 1/2 - 5
5-137801700-AG-TA c.250_251delinsTA p.S84Y Missense 1/2 - 7
5-137801700-AG-TT c.250_251delinsTT p.S84F Missense 1/2 - 7
5-137801700-A-T c.250A>T p.S84C Missense 1/2 - 6
5-137801683-ACAG-A c.251_253del p.S84del InFrameDeletion 1/2 - 10
5-137801701-AGCAC-A c.251_254del p.S84Tfs*16 Frameshift 1/2 - 1
5-137801701-G-A c.251G>A p.S84N Missense 1/2 - 18
5-137801701-G-C c.251G>C p.S84T Missense 1/2 - 7
5-137801701-G-T c.251G>T p.S84I Missense 1/2 - 4
5-137801702-C-A c.252C>A p.S84R Missense 1/2 - 7
5-137801702-C-G c.252C>G p.S84R Missense 1/2 - 7
5-137801702-C-T c.252C>T p.S84= Synonymous 1/2 - 22
5-137801703-A-C c.253A>C p.T85P Missense 1/2 - 8
5-137801703-ACC-CAA c.253_255delinsCAA p.T85Q Missense 1/2 - 1
5-137801703-ACC-GAG c.253_255delinsGAG p.T85E Missense 1/2 - 1
5-137801703-AC-CT c.253_254delinsCT p.T85L Missense 1/2 - 1
5-137801703-AC-GT c.253_254inv p.T85V Missense 1/2 - 1
5-137801703-AC-TG c.253_254delinsTG p.T85C Missense 1/2 - 1
5-137801703-A-G c.253A>G p.T85A Missense 1/2 - 10
5-137801703-A-T c.253A>T p.T85S Missense 1/2 - 11
5-137801704-C-A c.254C>A p.T85N Missense 1/2 - 4
5-137801704-CC-AG c.254_255delinsAG p.T85K Missense 1/2 - 2
5-137801704-CC-GG c.254_255inv p.T85R Missense 1/2 - 1
5-137801704-CC-TG c.254_255delinsTG p.T85M Missense 1/2 - 2
5-137801704-C-G c.254C>G p.T85S Missense 1/2 - 11
5-137801704-C-T c.254C>T p.T85I Missense 1/2 - 38
5-137801705-C-A c.255C>A p.T85= Synonymous 1/2 - 12
5-137801705-C-CAGGAGAAGAAGGAGAAGGAGGAGAAGGAGGAGGAGGAGGAGGAGAAGGAGGA c.255_256insAGGAGAAGAAGGAGAAGGAGGAGAAGGAGGAGGAGGAGGAGGAGAAGGAGGA p.F86Rfs*39 Frameshift 1/2 - 1
5-137801705-C-G c.255C>G p.T85= Synonymous 1/2 - 8
5-137801705-C-T c.255C>T p.T85= Synonymous 1/2 - 11
5-137801704-CCTT-C c.256_258del p.F86del InFrameDeletion 1/2 - 1
5-137801706-T-A c.256T>A p.F86I Missense 1/2 - 4
5-137801706-T-C c.256T>C p.F86L Missense 1/2 - 11
5-137801706-T-G c.256T>G p.F86V Missense 1/2 - 2
5-137801706-TT-AA c.256_257inv p.F86N Missense 1/2 - 1
5-137801706-TT-CC c.256_257delinsCC p.F86P Missense 1/2 - 1
5-137801708-C-A c.258C>A p.F86L Missense 1/2 - 12
5-137801708-C-G c.258C>G p.F86L Missense 1/2 - 12
5-137801707-T-A c.257T>A p.F86Y Missense 1/2 - 5
5-137801707-T-C c.257T>C p.F86S Missense 1/2 - 7
5-137801707-TC-AA c.257_258delinsAA p.F86* Nonsense 1/2 - 1
5-137801707-TC-GG c.257_258delinsGG p.F86W Missense 1/2 - 2
5-137801707-T-G c.257T>G p.F86C Missense 1/2 - 6
5-137801708-C-T c.258C>T p.F86= Synonymous 1/2 - 15
5-137801708-TC-T c.258del p.F86Lfs*15 Frameshift 1/2 - 2
5-137801709-AA-TG c.259_260delinsTG p.N87C Missense 1/2 - 1
5-137801709-A-C c.259A>C p.N87H Missense 1/2 - 7
5-137801709-A-G c.259A>G p.N87D Missense 1/2 - 10
5-137801709-A-T c.259A>T p.N87Y Missense 1/2 - 4
5-137801709-CAA-C c.259_260del p.N87Pfs*20 Frameshift 1/2 - 1
5-137801708-C-CA c.260dup p.N87Kfs*21 Frameshift 1/2 - 1
5-137801710-A-C c.260A>C p.N87T Missense 1/2 - 8
5-137801710-A-G c.260A>G p.N87S Missense 1/2 - 11
5-137801711-C-A c.261C>A p.N87K Missense 1/2 - 7
5-137801711-C-CT c.261_262insT p.P88Sfs*20 Frameshift 1/2 - 1
5-137801711-C-G c.261C>G p.N87K Missense 1/2 - 7
5-137801711-C-T c.261C>T p.N87= Synonymous 1/2 - 17
5-137801712-C-A c.262C>A p.P88T Missense 1/2 - 6
5-137801712-CCCTCA-C c.262_266del p.P88Gfs*18 Frameshift 1/2 - 1
5-137801712-CC-TT c.262_263delinsTT p.P88F Missense 1/2 - 1
5-137801712-C-G c.262C>G p.P88A Missense 1/2 - 4
5-137801712-C-T c.262C>T p.P88S Missense 1/2 - 22
5-137801710-AC-A c.263del p.P88Lfs*13 Frameshift 1/2 - 2
5-137801712-C-CCCGCG c.263_264insCGCGC p.Q89Afs*14 Frameshift 1/2 - 1
5-137801713-C-A c.263C>A p.P88H Missense 1/2 - 5
5-137801713-C-G c.263C>G p.P88R Missense 1/2 - 6
5-137801713-C-T c.263C>T p.P88L Missense 1/2 - 16
5-137801713-CT-AA c.263_264delinsAA p.P88Q Missense 1/2 - 3
5-137801714-T-A c.264T>A p.P88= Synonymous 1/2 - 15
5-137801714-T-C c.264T>C p.P88= Synonymous 1/2 - 17
5-137801714-T-G c.264T>G p.P88= Synonymous 1/2 - 14
5-137801715-C-A c.265C>A p.Q89K Missense 1/2 - 11
5-137801715-CAG-AAC c.265_267delinsAAC p.Q89N Missense 1/2 - 1
5-137801715-CA-GC c.265_266delinsGC p.Q89A Missense 1/2 - 3
5-137801715-CA-GG c.265_266delinsGG p.Q89G Missense 1/2 - 1
5-137801715-CAG-GAC c.265_267delinsGAC p.Q89D Missense 1/2 - 1
5-137801715-C-G c.265C>G p.Q89E Missense 1/2 - 6
5-137801715-C-T c.265C>T p.Q89* Nonsense 1/2 - 17
5-137801716-A-C c.266A>C p.Q89P Missense 1/2 - 7
5-137801716-A-G c.266A>G p.Q89R Missense 1/2 - 14
5-137801716-A-T c.266A>T p.Q89L Missense 1/2 - 7
5-137801717-AGGCGG-A c.267_271del p.A90Hfs*16 Frameshift 1/2 - 1
5-137801717-G-A c.267G>A p.Q89= Synonymous 1/2 - 19
5-137801717-G-C c.267G>C p.Q89H Missense 1/2 - 14
5-137801717-G-T c.267G>T p.Q89H Missense 1/2 - 9
5-137801718-G-A c.268G>A p.A90T Missense 1/2 - 22
5-137801718-G-C c.268G>C p.A90P Missense 1/2 - 13
5-137801718-GC-CA c.268_269delinsCA p.A90Q Missense 1/2 - 9
5-137801718-GCG-TAT c.268_270delinsTAT p.A90Y Missense 1/2 - 8
5-137801718-GCG-TGT c.268_270delinsTGT p.A90C Missense 1/2 - 26
5-137801718-GCG-TTT c.268_270delinsTTT p.A90F Missense 1/2 - 5
5-137801718-GC-TG c.268_269delinsTG p.A90W Missense 1/2 - 7
5-137801718-G-T c.268G>T p.A90S Missense 1/2 - 14
5-137801719-C-A c.269C>A p.A90E Missense 1/2 - 9
5-137801719-C-G c.269C>G p.A90G Missense 1/2 - 4
5-137801719-CG-AC c.269_270delinsAC p.A90D Missense 1/2 - 6
5-137801719-C-T c.269C>T p.A90V Missense 1/2 - 22
5-137801720-G-A c.270G>A p.A90= Synonymous 1/2 - 27
5-137801720-G-C c.270G>C p.A90= Synonymous 1/2 - 22
5-137801720-G-GT c.270_271insT p.D91* Nonsense 1/2 - 2
5-137801720-G-T c.270G>T p.A90= Synonymous 1/2 - 23
5-137801719-CG-C c.271del p.D91Tfs*10 Frameshift 1/2 - 1
5-137801721-G-A c.271G>A p.D91N Missense 1/2 - 15
5-137801721-GA-AG c.271_272delinsAG p.D91S Missense 1/2 - 1
5-137801721-GAC-ATG c.271_273delinsATG p.D91M Missense 1/2 - 1
5-137801721-GA-CT c.271_272delinsCT p.D91L Missense 1/2 - 1
5-137801721-GAC-TAA c.271_273delinsTAA p.D91* Nonsense 1/2 - 1
5-137801721-GA-TG c.271_272delinsTG p.D91C Missense 1/2 - 3
5-137801721-G-C c.271G>C p.D91H Missense 1/2 - 9
5-137801721-G-GC c.271_272insC p.D91Afs*17 Frameshift 1/2 - 1
5-137801721-G-T c.271G>T p.D91Y Missense 1/2 - 3
5-137801722-A-C c.272A>C p.D91A Missense 1/2 - 8
5-137801722-A-G c.272A>G p.D91G Missense 1/2 - 9
5-137801722-A-T c.272A>T p.D91V Missense 1/2 - 6
5-137801722-GACACGGGCGAGCAGCCCTACGAGCACC-G c.272_298del p.D91_L100delinsV MultiAAMissense 1/2 - 1
5-137801720-GGACACGGGC-G c.273_281del p.D91_G93del InFrameDeletion 1/2 - 1
5-137801723-C-A c.273C>A p.D91E Missense 1/2 - 3
5-137801723-C-CT c.273_274insT p.T92Yfs*16 Frameshift 1/2 - 1
5-137801723-C-G c.273C>G p.D91E Missense 1/2 - 6
5-137801723-C-T c.273C>T p.D91= Synonymous 1/2 - 24
5-137801722-A-ACAACT c.274_275insACTCA p.T92Nfs*11 Frameshift 1/2 - 1
5-137801723-C-CA c.274dup p.T92Nfs*16 Frameshift 1/2 - 1
5-137801724-A-AG c.274_275insG p.T92Sfs*16 Frameshift 1/2 - 1
5-137801724-A-C c.274A>C p.T92P Missense 1/2 - 8
5-137801724-AC-GA c.274_275delinsGA p.T92E Missense 1/2 - 1
5-137801724-AC-GG c.274_275delinsGG p.T92G Missense 1/2 - 1
5-137801724-ACG-TGT c.274_276delinsTGT p.T92C Missense 1/2 - 2
5-137801724-A-G c.274A>G p.T92A Missense 1/2 - 18
5-137801724-A-T c.274A>T p.T92S Missense 1/2 - 4
5-137801724-A-AC c.275dup p.E94Rfs*14 Frameshift 1/2 - 1
5-137801725-C-A c.275C>A p.T92K Missense 1/2 - 2
5-137801725-C-G c.275C>G p.T92R Missense 1/2 - 5
5-137801725-CG-AC c.275_276delinsAC p.T92N Missense 1/2 - 1
5-137801725-CG-TC c.275_276delinsTC p.T92I Missense 1/2 - 5
5-137801725-C-T c.275C>T p.T92M Missense 1/2 - 13
5-137801724-ACGGGCGAGCAG-A c.276_286del p.G93Lfs*11 Frameshift 1/2 - 1
5-137801726-G-A c.276G>A p.T92= Synonymous 1/2 - 13
5-137801726-G-C c.276G>C p.T92= Synonymous 1/2 - 10
5-137801726-G-GCA c.276_277insCA p.G93Qfs*9 Frameshift 1/2 - 1
5-137801726-G-T c.276G>T p.T92= Synonymous 1/2 - 11
5-137801727-G-A c.277G>A p.G93S Missense 1/2 - 20
5-137801727-G-C c.277G>C p.G93R Missense 1/2 - 14
5-137801727-GG-CA c.277_278delinsCA p.G93H Missense 1/2 - 2
5-137801727-GGC-ATG c.277_279delinsATG p.G93M Missense 1/2 - 1
5-137801727-GGC-TGA c.277_279delinsTGA p.G93* Nonsense 1/2 - 1
5-137801727-GGC-TGG c.277_279delinsTGG p.G93W Missense 1/2 - 1
5-137801727-GG-TT c.277_278delinsTT p.G93F Missense 1/2 - 1
5-137801727-G-T c.277G>T p.G93C Missense 1/2 - 8
5-137801728-G-A c.278G>A p.G93D Missense 1/2 - 23
5-137801728-G-C c.278G>C p.G93A Missense 1/2 - 157
5-137801728-GC-AG c.278_279delinsAG p.G93E Missense 1/2 - 7
5-137801728-G-T c.278G>T p.G93V Missense 1/2 - 8
5-137801729-C-A c.279C>A p.G93= Synonymous 1/2 - 13
5-137801729-C-CT c.279_280insT p.E94* Nonsense 1/2 - 2
5-137801729-C-G c.279C>G p.G93= Synonymous 1/2 - 14
5-137801729-C-T c.279C>T p.G93= Synonymous 1/2 - 18
5-137801729-GC-G c.279del p.E94Sfs*7 Frameshift 1/2 - 1
5-137801730-G-A c.280G>A p.E94K Missense 1/2 - 14
5-137801730-GA-AC c.280_281delinsAC p.E94T Missense 1/2 - 1
5-137801730-GA-AG c.280_281delinsAG p.E94R Missense 1/2 - 1
5-137801730-GA-AT c.280_281delinsAT p.E94M Missense 1/2 - 1
5-137801730-GAG-CAT c.280_282delinsCAT p.E94H Missense 1/2 - 1
5-137801730-GAG-TGT c.280_282delinsTGT p.E94C Missense 1/2 - 1
5-137801730-GAG-TTT c.280_282delinsTTT p.E94F Missense 1/2 - 2
5-137801730-GA-TG c.280_281delinsTG p.E94W Missense 1/2 - 1
5-137801730-G-C c.280G>C p.E94Q Missense 1/2 - 5
5-137801730-G-T c.280G>T p.E94* Nonsense 1/2 - 6
5-137801729-CGA-C c.281_282del p.E94Afs*13 Frameshift 1/2 - 1
5-137801731-A-C c.281A>C p.E94A Missense 1/2 - 12
5-137801731-A-G c.281A>G p.E94G Missense 1/2 - 11
5-137801731-A-T c.281A>T p.E94V Missense 1/2 - 1
5-137801731-A-AGG c.282_283insGG p.Q95Gfs*7 Frameshift 1/2 - 1
5-137801732-G-A c.282G>A p.E94= Synonymous 1/2 - 9
5-137801732-G-C c.282G>C p.E94D Missense 1/2 - 10
5-137801732-G-T c.282G>T p.E94D Missense 1/2 - 9
5-137801732-G-GC c.283dup p.Q95Pfs*13 Frameshift 1/2 - 2
5-137801733-C-A c.283C>A p.Q95K Missense 1/2 - 10
5-137801733-CA-GC c.283_284delinsGC p.Q95A Missense 1/2 - 1
5-137801733-CA-GG c.283_284delinsGG p.Q95G Missense 1/2 - 1
5-137801733-CAG-TAT c.283_285delinsTAT p.Q95Y Missense 1/2 - 1
5-137801733-CAG-TGT c.283_285delinsTGT p.Q95C Missense 1/2 - 1
5-137801733-C-G c.283C>G p.Q95E Missense 1/2 - 3
5-137801733-C-T c.283C>T p.Q95* Nonsense 1/2 - 10
5-137801732-GCAGCCCTACGAGCA-G c.284_297del p.Q95Pfs*8 Frameshift 1/2 - 1
5-137801733-C-CA c.284dup p.P96Afs*12 Frameshift 1/2 - 1
5-137801734-A-C c.284A>C p.Q95P Missense 1/2 - 8
5-137801734-A-G c.284A>G p.Q95R Missense 1/2 - 14
5-137801734-A-T c.284A>T p.Q95L Missense 1/2 - 5
5-137801735-G-A c.285G>A p.Q95= Synonymous 1/2 - 14
5-137801735-G-C c.285G>C p.Q95H Missense 1/2 - 11
5-137801735-G-T c.285G>T p.Q95H Missense 1/2 - 13
5-137801736-C-A c.286C>A p.P96T Missense 1/2 - 5
5-137801736-CC-GG c.286_287inv p.P96G Missense 1/2 - 2
5-137801736-C-G c.286C>G p.P96A Missense 1/2 - 9
5-137801736-C-T c.286C>T p.P96S Missense 1/2 - 21
5-137801737-C-A c.287C>A p.P96H Missense 1/2 - 7
5-137801737-CC-AA c.287_288delinsAA p.P96Q Missense 1/2 - 2
5-137801737-C-G c.287C>G p.P96R Missense 1/2 - 5
5-137801737-C-T c.287C>T p.P96L Missense 1/2 - 17
5-137801735-GC-G c.288del p.Y97Tfs*4 Frameshift 1/2 - 2
5-137801735-G-GC c.288dup p.Y97Lfs*11 Frameshift 1/2 - 1
5-137801737-C-CCAG c.288_289insAGC p.P96_Y97insS InFrameInsertion 1/2 - 1
5-137801738-C-A c.288C>A p.P96= Synonymous 1/2 - 17
5-137801738-C-G c.288C>G p.P96= Synonymous 1/2 - 16
5-137801738-C-T c.288C>T p.P96= Synonymous 1/2 - 21
5-137801739-T-A c.289T>A p.Y97N Missense 1/2 - 5
5-137801739-TA-AT c.289_290delinsAT p.Y97I Missense 1/2 - 1
5-137801739-TAC-AAG c.289_291delinsAAG p.Y97K Missense 1/2 - 2
5-137801739-TA-CC c.289_290delinsCC p.Y97P Missense 1/2 - 1
5-137801739-TAC-GAG c.289_291delinsGAG p.Y97E Missense 1/2 - 1
5-137801739-TA-CT c.289_290delinsCT p.Y97L Missense 1/2 - 1
5-137801739-TA-GC c.289_290delinsGC p.Y97A Missense 1/2 - 1
5-137801739-T-C c.289T>C p.Y97H Missense 1/2 - 7
5-137801739-T-G c.289T>G p.Y97D Missense 1/2 - 2
5-137801740-A-C c.290A>C p.Y97S Missense 1/2 - 8
5-137801740-AC-GG c.290_291delinsGG p.Y97W Missense 1/2 - 1
5-137801740-A-G c.290A>G p.Y97C Missense 1/2 - 15
5-137801740-A-T c.290A>T p.Y97F Missense 1/2 - 4
5-137801739-TACGAGCACCTGACCGCAGGTAAGCAGTGGCCTACGCCGAGGGGGAACCCTTTCGCCACC-T c.291_307+42del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 1/1 2
5-137801741-AC-A c.291del p.Y97* Frameshift 1/2 - 1
5-137801741-C-A c.291C>A p.Y97* Nonsense 1/2 - 7
5-137801741-C-G c.291C>G p.Y97* Nonsense 1/2 - 4
5-137801741-C-T c.291C>T p.Y97= Synonymous 1/2 - 15
5-137801741-C-CGGCA c.292_293insGCAG p.E98Gfs*11 Frameshift 1/2 - 1
5-137801742-G-A c.292G>A p.E98K Missense 1/2 - 30
5-137801742-GA-CC c.292_293delinsCC p.E98P Missense 1/2 - 1
5-137801742-GA-CT c.292_293delinsCT p.E98L Missense 1/2 - 1
5-137801742-GAG-CAT c.292_294delinsCAT p.E98H Missense 1/2 - 2
5-137801742-GAG-TAT c.292_294delinsTAT p.E98Y Missense 1/2 - 1
5-137801742-GAG-TGT c.292_294delinsTGT p.E98C Missense 1/2 - 3
5-137801742-GAG-TTT c.292_294delinsTTT p.E98F Missense 1/2 - 1
5-137801742-G-C c.292G>C p.E98Q Missense 1/2 - 9
5-137801742-G-GCAA c.292_293insCAA p.E98delinsAK MultiAAMissense 1/2 - 1
5-137801742-G-T c.292G>T p.E98* Nonsense 1/2 - 9
5-137801742-G-GA c.293dup p.H99Afs*9 Frameshift 1/2 - 1
5-137801743-A-C c.293A>C p.E98A Missense 1/2 - 8
5-137801743-A-G c.293A>G p.E98G Missense 1/2 - 8
5-137801743-A-T c.293A>T p.E98V Missense 1/2 - 3
5-137801744-AG-A c.294del p.E98Dfs*3 Frameshift 1/2 - 1
5-137801744-AGCAC-A c.294_297del p.E98Dfs*2 Frameshift 1/2 - 1
5-137801744-G-A c.294G>A p.E98= Synonymous 1/2 - 14
5-137801744-G-C c.294G>C p.E98D Missense 1/2 - 7
5-137801744-G-T c.294G>T p.E98D Missense 1/2 - 5
5-137801745-C-A c.295C>A p.H99N Missense 1/2 - 4
5-137801745-CAC-ATG c.295_297delinsATG p.H99M Missense 1/2 - 1
5-137801745-CA-GC c.295_296delinsGC p.H99A Missense 1/2 - 4
5-137801745-CA-TG c.295_296inv p.H99C Missense 1/2 - 1
5-137801745-C-G c.295C>G p.H99D Missense 1/2 - 5
5-137801745-C-T c.295C>T p.H99Y Missense 1/2 - 12
5-137801744-GCAC-G c.296_298del p.H99del InFrameDeletion 1/2 - 1
5-137801745-C-CAA c.296_297insAA p.H99Qfs*3 Frameshift 1/2 - 1
5-137801746-A-C c.296A>C p.H99P Missense 1/2 - 2
5-137801746-A-G c.296A>G p.H99R Missense 1/2 - 11
5-137801746-A-T c.296A>T p.H99L Missense 1/2 - 4
5-137801747-C-A c.297C>A p.H99Q Missense 1/2 - 7
5-137801747-C-G c.297C>G p.H99Q Missense 1/2 - 6
5-137801747-C-T c.297C>T p.H99= Synonymous 1/2 - 15
5-137801746-AC-A c.298del p.L100* Frameshift 1/2 - 3
5-137801748-C-A c.298C>A p.L100M Missense 1/2 - 6
5-137801748-C-CAA c.298_299insAA p.L100Qfs*2 Frameshift 1/2 - 1
5-137801748-C-G c.298C>G p.L100V Missense 1/2 - 5
5-137801748-C-T c.298C>T p.L100= Synonymous 1/2 - 23
5-137801748-CT-AA c.298_299delinsAA p.L100K Missense 1/2 - 4
5-137801748-CT-GA c.298_299delinsGA p.L100E Missense 1/2 - 1
5-137801748-CTG-ATC c.298_300delinsATC p.L100I Missense 1/2 - 43
5-137801748-CT-GG c.298_299delinsGG p.L100G Missense 1/2 - 1
5-137801748-CTG-TTT c.298_300delinsTTT p.L100F Missense 1/2 - 5
5-137801748-CT-TA c.298_299delinsTA p.L100* Nonsense 1/2 - 1
5-137801748-CT-TC c.298_299delinsTC p.L100S Missense 1/2 - 2
5-137801748-CT-TG c.298_299delinsTG p.L100W Missense 1/2 - 1
5-137801749-T-A c.299T>A p.L100Q Missense 1/2 - 7
5-137801749-T-C c.299T>C p.L100P Missense 1/2 - 17
5-137801749-T-G c.299T>G p.L100R Missense 1/2 - 3
5-137801749-TG-AT c.299_300delinsAT p.L100H Missense 1/2 - 1
5-137801750-G-A c.300G>A p.L100= Synonymous 1/2 - 17
5-137801750-G-C c.300G>C p.L100= Synonymous 1/2 - 16
5-137801750-G-T c.300G>T p.L100= Synonymous 1/2 - 12
5-137801748-C-CTGATAGTAGCCGAGAGGGCGCGTATGTTCGCGGCGGAGAAAGTAGCGAAGCAAAAAAAAAAAAAAGGCAGCGGGAAGG c.301_302insTAGTAGCCGAGAGGGCGCGTATGTTCGCGGCGGAGAAAGTAGCGAAGCAAAAAAAAAAAAAAGGCAGCGGGAAGGTGA p.L100_T101insIVAERARMFAAEKVAKQKKKKGSGKV InFrameInsertion 1/2 - 1
5-137801750-G-GA c.301dup p.T101Nfs*7 Frameshift 1/2 - 1
5-137801751-A-C c.301A>C p.T101P Missense 1/2 - 8
5-137801751-ACC-TAA c.301_303delinsTAA p.T101* Nonsense 1/2 - 2
5-137801751-AC-GA c.301_302delinsGA p.T101D Missense 1/2 - 1
5-137801751-AC-GG c.301_302delinsGG p.T101G Missense 1/2 - 1
5-137801751-AC-TG c.301_302delinsTG p.T101C Missense 1/2 - 2
5-137801751-A-G c.301A>G p.T101A Missense 1/2 - 17
5-137801751-A-T c.301A>T p.T101S Missense 1/2 - 6
5-137801752-C-A c.302C>A p.T101N Missense 1/2 - 6
5-137801752-CC-AG c.302_303delinsAG p.T101K Missense 1/2 - 1
5-137801752-CC-TG c.302_303delinsTG p.T101M Missense 1/2 - 5
5-137801752-C-G c.302C>G p.T101S Missense 1/2 - 4
5-137801752-C-T c.302C>T p.T101I Missense 1/2 - 15
5-137801751-AC-A c.303del p.A102Qfs*9 Frameshift 1/2 - 1
5-137801753-C-A c.303C>A p.T101= Synonymous 1/2 - 8
5-137801753-CCGCAGGTAAGCAGTGGCCTACGCCGAGGGGGAACCCTTTCGCCACCATCCTGGCGTCCT-C c.303_307+54del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 1/1 1
5-137801753-C-G c.303C>G p.T101= Synonymous 1/2 - 8
5-137801753-C-T c.303C>T p.T101= Synonymous 1/2 - 16
5-137801754-G-A c.304G>A p.A102T Missense 1/2 - 26
5-137801754-G-C c.304G>C p.A102P Missense 1/2 - 5
5-137801754-GCA-AAC c.304_306delinsAAC p.A102N Missense 1/2 - 1
5-137801754-GCA-TGG c.304_306delinsTGG p.A102W Missense 1/2 - 1
5-137801754-GCA-TGT c.304_306delinsTGT p.A102C Missense 1/2 - 3
5-137801754-GCA-TTT c.304_306delinsTTT p.A102F Missense 1/2 - 1
5-137801754-G-T c.304G>T p.A102S Missense 1/2 - 10
5-137801755-C-A c.305C>A p.A102E Missense 1/2 - 7
5-137801755-CA-AC c.305_306delinsAC p.A102D Missense 1/2 - 4
5-137801755-C-CT c.305_306insT p.E103Rfs*5 SpliceDonorInsertion 1/2 - 1
5-137801755-C-G c.305C>G p.A102G Missense 1/2 - 11
5-137801755-C-T c.305C>T p.A102V Missense 1/2 - 18
5-137801756-A-C c.306A>C p.A102= Synonymous 1/2 - 13
5-137801756-A-G c.306A>G p.A102= Synonymous 1/2 - 14
5-137801756-A-T c.306A>T p.A102= Synonymous 1/2 - 11
5-137801757-G-A c.307G>A p.E103K Missense 1/2 - 31
5-137801757-G-C c.307G>C p.E103Q Missense 1/2 - 4
5-137801757-G-GCAA c.307_307+1insCAA p.E103delinsAK SpliceDonorInsertion - - 1
5-137801757-G-T c.307G>T p.E103* Nonsense 1/2 - 2
5-137801755-C-CAGGG c.307+1_307+2insGAGG - SpliceDonorInsertion - 1/1 1
5-137801758-G-A c.307+1G>A - IntronicSNV - 1/1 1
5-137801759-T-A c.307+2T>A - IntronicSNV - 1/1 1
5-137801759-T-G c.307+2T>G - IntronicSNV - 1/1 1
5-137801769-C-T c.307+12C>T - IntronicSNV - 1/1 1
5-137801799-A-G c.307+42A>G - IntronicSNV - 1/1 1
5-137801820-C-A c.307+63C>A - IntronicSNV - 1/1 1
5-137801823-C-A c.307+66C>A - IntronicSNV - 1/1 1
5-137801834-C-T c.307+77C>T - IntronicSNV - 1/1 1
5-137801874-TC-T c.307+117del - IntronicDeletion - 1/1 1
5-137802091-C-A c.307+334C>A - IntronicSNV - 1/1 1
5-137802404-C-T c.308-42C>T - IntronicSNV - 1/1 5
5-137802445-G-GA c.308dup p.S104Vfs*4 SpliceAcceptorInsertion 2/2 - 1
5-137802446-A-C c.308A>C p.E103A Missense 2/2 - 5
5-137802446-A-G c.308A>G p.E103G Missense 2/2 - 14
5-137802446-A-T c.308A>T p.E103V Missense 2/2 - 5
5-137802446-A-AG c.309dup p.S104Vfs*4 SpliceAcceptorInsertion 2/2 - 1
5-137802447-G-A c.309G>A p.E103= Synonymous 2/2 - 15
5-137802447-G-C c.309G>C p.E103D Missense 2/2 - 6
5-137802447-G-GA c.309_310insA p.S104Ifs*4 SpliceAcceptorInsertion 2/2 - 1
5-137802447-G-GC c.309_310insC p.S104Lfs*4 SpliceAcceptorInsertion 2/2 - 1
5-137802447-G-T c.309G>T p.E103D Missense 2/2 - 7
5-137802447-G-GT c.310dup p.S104Ffs*4 Frameshift 2/2 - 1
5-137802448-GT-G c.310del p.S104Lfs*7 Frameshift 2/2 - 1
5-137802448-T-A c.310T>A p.S104T Missense 2/2 - 2
5-137802448-T-C c.310T>C p.S104P Missense 2/2 - 8
5-137802448-TC-AA c.310_311delinsAA p.S104N Missense 2/2 - 8
5-137802448-TC-AT c.310_311delinsAT p.S104I Missense 2/2 - 1
5-137802448-TC-CG c.310_311delinsCG p.S104R Missense 2/2 - 4
5-137802448-TC-CT c.310_311delinsCT p.S104L Missense 2/2 - 7
5-137802448-TC-GA c.310_311inv p.S104D Missense 2/2 - 1
5-137802448-TC-GG c.310_311delinsGG p.S104G Missense 2/2 - 2
5-137802448-T-G c.310T>G p.S104A Missense 2/2 - 5
5-137802448-T-TAA c.310_311insAA p.S104* Nonsense 2/2 - 1
5-137802449-C-A c.311C>A p.S104Y Missense 2/2 - 4
5-137802449-C-CCTCT c.311_312insCTCT p.F105Sfs*4 Frameshift 2/2 - 1
5-137802449-C-G c.311C>G p.S104C Missense 2/2 - 8
5-137802449-C-T c.311C>T p.S104F Missense 2/2 - 15
5-137802449-CT-AA c.311_312delinsAA p.S104* Nonsense 2/2 - 3
5-137802450-T-A c.312T>A p.S104= Synonymous 2/2 - 9
5-137802450-T-C c.312T>C p.S104= Synonymous 2/2 - 11
5-137802450-T-G c.312T>G p.S104= Synonymous 2/2 - 9
5-137802450-T-TA c.312_313insA p.F105Ifs*3 Frameshift 2/2 - 1
5-137802450-T-TCC c.312_313insCC p.F105Pfs*7 Frameshift 2/2 - 1
5-137802449-CTTT-C c.313_315del p.F105del InFrameDeletion 2/2 - 1
5-137802451-T-A c.313T>A p.F105I Missense 2/2 - 4
5-137802451-T-C c.313T>C p.F105L Missense 2/2 - 11
5-137802451-T-G c.313T>G p.F105V Missense 2/2 - 4
5-137802451-T-TCAA c.313_314insCAA p.F105delinsSI MultiAAMissense 2/2 - 1
5-137802451-TT-GC c.313_314delinsGC p.F105A Missense 2/2 - 1
5-137802453-T-A c.315T>A p.F105L Missense 2/2 - 6
5-137802453-T-G c.315T>G p.F105L Missense 2/2 - 9
5-137802449-CTT-C c.314_315del p.F105Sfs*2 Frameshift 2/2 - 1
5-137802452-T-C c.314T>C p.F105S Missense 2/2 - 11
5-137802452-T-G c.314T>G p.F105C Missense 2/2 - 6
5-137802452-TT-AA c.314_315inv p.F105* Nonsense 2/2 - 1
5-137802449-C-CT c.315dup p.P106Sfs*2 Frameshift 2/2 - 2
5-137802453-T-C c.315T>C p.F105= Synonymous 2/2 - 16
5-137802454-C-A c.316C>A p.P106T Missense 2/2 - 4
5-137802454-C-CAA c.316_317insAA p.P106Qfs*6 Frameshift 2/2 - 1
5-137802454-CC-AT c.316_317delinsAT p.P106I Missense 2/2 - 1
5-137802454-CC-GG c.316_317inv p.P106G Missense 2/2 - 1
5-137802454-CCT-ATG c.316_318delinsATG p.P106M Missense 2/2 - 1
5-137802454-CC-TG c.316_317delinsTG p.P106C Missense 2/2 - 1
5-137802454-C-G c.316C>G p.P106A Missense 2/2 - 7
5-137802454-C-T c.316C>T p.P106S Missense 2/2 - 17
5-137802453-TCCTGACATCTCTCTGAA-T c.317_333del p.P106Qfs*104 Frameshift 2/2 - 1
5-137802453-TC-T c.317del p.P106Lfs*5 Frameshift 2/2 - 2
5-137802453-T-TCCGCAGGAG c.317_318insGCAGGAGCC p.P106_D107insQEP InFrameInsertion 2/2 - 1
5-137802455-C-A c.317C>A p.P106H Missense 2/2 - 4
5-137802455-C-G c.317C>G p.P106R Missense 2/2 - 3
5-137802455-C-T c.317C>T p.P106L Missense 2/2 - 18
5-137802456-T-A c.318T>A p.P106= Synonymous 2/2 - 15
5-137802456-T-C c.318T>C p.P106= Synonymous 2/2 - 16
5-137802456-T-G c.318T>G p.P106= Synonymous 2/2 - 13
5-137802456-T-TCACCACCACCACCA c.318_319insCACCACCACCACCA p.D107Hfs*9 Frameshift 2/2 - 1
5-137802457-G-A c.319G>A p.D107N Missense 2/2 - 16
5-137802457-GA-TG c.319_320delinsTG p.D107C Missense 2/2 - 1
5-137802457-G-C c.319G>C p.D107H Missense 2/2 - 4
5-137802457-G-T c.319G>T p.D107Y Missense 2/2 - 11
5-137802457-TGACATCTCTCTGAACAACGAGA-T c.319_340del p.D107Rfs*48 Frameshift 2/2 - 1
5-137802458-A-C c.320A>C p.D107A Missense 2/2 - 6
5-137802458-A-G c.320A>G p.D107G Missense 2/2 - 8
5-137802458-A-T c.320A>T p.D107V Missense 2/2 - 8
5-137802459-AC-A c.321del p.D107Efs*4 Frameshift 2/2 - 1
5-137802459-C-A c.321C>A p.D107E Missense 2/2 - 6
5-137802459-C-G c.321C>G p.D107E Missense 2/2 - 5
5-137802459-C-T c.321C>T p.D107= Synonymous 2/2 - 11
5-137802460-A-C c.322A>C p.I108L Missense 2/2 - 4
5-137802460-A-G c.322A>G p.I108V Missense 2/2 - 6
5-137802460-A-T c.322A>T p.I108F Missense 2/2 - 2
5-137802461-T-A c.323T>A p.I108N Missense 2/2 - 8
5-137802461-T-C c.323T>C p.I108T Missense 2/2 - 11
5-137802461-TC-AG c.323_324delinsAG p.I108K Missense 2/2 - 1
5-137802461-T-G c.323T>G p.I108S Missense 2/2 - 7
5-137802461-T-TTGCA c.323_324insTGCA p.S109Afs*108 Frameshift 2/2 - 1
5-137802461-T-TC c.324dup p.S109Lfs*107 Frameshift 2/2 - 1
5-137802462-C-A c.324C>A p.I108= Synonymous 2/2 - 11
5-137802462-C-G c.324C>G p.I108M Missense 2/2 - 13
5-137802462-C-T c.324C>T p.I108= Synonymous 2/2 - 17
5-137802462-TCTCTC-T c.324_328del p.S109Efs*105 Frameshift 2/2 - 1
5-137802463-T-A c.325T>A p.S109T Missense 2/2 - 5
5-137802463-T-C c.325T>C p.S109P Missense 2/2 - 12
5-137802463-TC-AA c.325_326delinsAA p.S109N Missense 2/2 - 4
5-137802463-TC-AT c.325_326delinsAT p.S109I Missense 2/2 - 5
5-137802463-TC-CG c.325_326delinsCG p.S109R Missense 2/2 - 3
5-137802463-TC-CT c.325_326delinsCT p.S109L Missense 2/2 - 5
5-137802463-TC-GA c.325_326inv p.S109D Missense 2/2 - 1
5-137802463-TC-GG c.325_326delinsGG p.S109G Missense 2/2 - 4
5-137802463-T-G c.325T>G p.S109A Missense 2/2 - 9
5-137802464-C-A c.326C>A p.S109Y Missense 2/2 - 3
5-137802464-C-CA c.326_327insA p.L110Sfs*106 Frameshift 2/2 - 1
5-137802464-C-G c.326C>G p.S109C Missense 2/2 - 7
5-137802464-C-T c.326C>T p.S109F Missense 2/2 - 9
5-137802464-CT-AA c.326_327delinsAA p.S109* Nonsense 2/2 - 3
5-137802465-T-A c.327T>A p.S109= Synonymous 2/2 - 12
5-137802465-T-C c.327T>C p.S109= Synonymous 2/2 - 11
5-137802465-T-G c.327T>G p.S109= Synonymous 2/2 - 10
5-137802466-C-A c.328C>A p.L110M Missense 2/2 - 10
5-137802466-C-G c.328C>G p.L110V Missense 2/2 - 3
5-137802466-CT-AA c.328_329delinsAA p.L110K Missense 2/2 - 1
5-137802466-CTG-ATC c.328_330delinsATC p.L110I Missense 2/2 - 2
5-137802466-CT-GC c.328_329delinsGC p.L110A Missense 2/2 - 3
5-137802466-CTG-TGT c.328_330delinsTGT p.L110C Missense 2/2 - 2
5-137802466-CTG-TTT c.328_330delinsTTT p.L110F Missense 2/2 - 5
5-137802466-CT-TA c.328_329delinsTA p.L110* Nonsense 2/2 - 1
5-137802466-CT-TC c.328_329delinsTC p.L110S Missense 2/2 - 1
5-137802467-T-A c.329T>A p.L110Q Missense 2/2 - 5
5-137802467-T-C c.329T>C p.L110P Missense 2/2 - 8
5-137802467-T-G c.329T>G p.L110R Missense 2/2 - 3
5-137802467-TG-AT c.329_330delinsAT p.L110H Missense 2/2 - 2
5-137802466-C-T c.328C>T p.L110= Synonymous 2/2 - 19
5-137802468-G-A c.330G>A p.L110= Synonymous 2/2 - 16
5-137802468-G-C c.330G>C p.L110= Synonymous 2/2 - 10
5-137802468-G-GTCCA c.330_331insTCCA p.N111Sfs*106 Frameshift 2/2 - 1
5-137802468-G-T c.330G>T p.L110= Synonymous 2/2 - 14
5-137802468-G-GACCGGC c.331_332insCCGGCA p.L110_N111insTG InFrameInsertion 2/2 - 1
5-137802469-A-ACC c.331_332insCC p.N111Tfs*52 Frameshift 2/2 - 1
5-137802469-AA-GG c.331_332delinsGG p.N111G Missense 2/2 - 1
5-137802469-A-C c.331A>C p.N111H Missense 2/2 - 4
5-137802469-A-G c.331A>G p.N111D Missense 2/2 - 15
5-137802469-A-T c.331A>T p.N111Y Missense 2/2 - 4
5-137802468-G-GA c.332dup p.N111Kfs*105 Frameshift 2/2 - 1
5-137802470-A-AG c.332_333insG p.N111Kfs*105 Frameshift 2/2 - 1
5-137802470-A-C c.332A>C p.N111T Missense 2/2 - 5
5-137802470-A-G c.332A>G p.N111S Missense 2/2 - 12
5-137802470-A-T c.332A>T p.N111I Missense 2/2 - 3
5-137802469-AAC-A c.333_334del p.N111Kfs*104 Frameshift 2/2 - 1
5-137802470-A-AC c.333dup p.N112Qfs*104 Frameshift 2/2 - 1
5-137802471-C-A c.333C>A p.N111K Missense 2/2 - 14
5-137802471-C-CT c.333_334insT p.N112* Nonsense 2/2 - 1
5-137802471-C-G c.333C>G p.N111K Missense 2/2 - 10
5-137802471-C-T c.333C>T p.N111= Synonymous 2/2 - 16
5-137802471-C-CACA c.334_335insCAA p.N111_N112insT InFrameInsertion 2/2 - 1
5-137802472-AA-GC c.334_335delinsGC p.N112A Missense 2/2 - 2
5-137802472-A-C c.334A>C p.N112H Missense 2/2 - 3
5-137802472-A-G c.334A>G p.N112D Missense 2/2 - 14
5-137802472-A-T c.334A>T p.N112Y Missense 2/2 - 1
5-137802471-CA-C c.335del p.N112Tfs*50 Frameshift 2/2 - 1
5-137802473-A-AT c.335_336insT p.E113Rfs*103 Frameshift 2/2 - 1
5-137802473-A-C c.335A>C p.N112T Missense 2/2 - 4
5-137802473-A-G c.335A>G p.N112S Missense 2/2 - 11
5-137802473-A-T c.335A>T p.N112I Missense 2/2 - 5
5-137802474-C-A c.336C>A p.N112K Missense 2/2 - 7
5-137802474-C-CT c.336_337insT p.E113* Nonsense 2/2 - 1
5-137802474-C-G c.336C>G p.N112K Missense 2/2 - 8
5-137802474-C-T c.336C>T p.N112= Synonymous 2/2 - 11
5-137802474-C-CG c.337dup p.E113Gfs*103 Frameshift 2/2 - 1
5-137802475-G-A c.337G>A p.E113K Missense 2/2 - 26
5-137802475-GAG-TGT c.337_339delinsTGT p.E113C Missense 2/2 - 1
5-137802475-G-C c.337G>C p.E113Q Missense 2/2 - 4
5-137802475-G-GCCTCA c.337_338insCCTCA p.E113Afs*51 Frameshift 2/2 - 1
5-137802475-G-T c.337G>T p.E113* Nonsense 2/2 - 9
5-137802475-G-GAA c.338_339insAA p.K114Rfs*49 Frameshift 2/2 - 1
5-137802476-A-C c.338A>C p.E113A Missense 2/2 - 7
5-137802476-A-G c.338A>G p.E113G Missense 2/2 - 8
5-137802474-CGA-C c.339_340del p.K114Gfs*101 Frameshift 2/2 - 1
5-137802477-G-A c.339G>A p.E113= Synonymous 2/2 - 12
5-137802477-G-C c.339G>C p.E113D Missense 2/2 - 10
5-137802477-G-GT c.339_340insT p.K114* Nonsense 2/2 - 1
5-137802477-G-T c.339G>T p.E113D Missense 2/2 - 11
5-137802478-A-C c.340A>C p.K114Q Missense 2/2 - 7
5-137802478-A-G c.340A>G p.K114E Missense 2/2 - 14
5-137802478-A-T c.340A>T p.K114* Nonsense 2/2 - 4
5-137802479-A-C c.341A>C p.K114T Missense 2/2 - 5
5-137802479-A-G c.341A>G p.K114R Missense 2/2 - 14
5-137802479-A-T c.341A>T p.K114M Missense 2/2 - 5
5-137802480-G-A c.342G>A p.K114= Synonymous 2/2 - 13
5-137802480-G-C c.342G>C p.K114N Missense 2/2 - 5
5-137802480-G-T c.342G>T p.K114N Missense 2/2 - 6
5-137802479-A-AG c.343dup p.V115Gfs*101 Frameshift 2/2 - 1
5-137802481-G-A c.343G>A p.V115M Missense 2/2 - 15
5-137802481-G-C c.343G>C p.V115L Missense 2/2 - 7
5-137802481-G-T c.343G>T p.V115L Missense 2/2 - 8
5-137802481-GTG-ATC c.343_345delinsATC p.V115I Missense 2/2 - 10
5-137802482-T-A c.344T>A p.V115E Missense 2/2 - 4
5-137802482-T-C c.344T>C p.V115A Missense 2/2 - 7
5-137802482-T-G c.344T>G p.V115G Missense 2/2 - 3
5-137802482-TG-AC c.344_345delinsAC p.V115D Missense 2/2 - 1
5-137802483-G-A c.345G>A p.V115= Synonymous 2/2 - 12
5-137802483-G-C c.345G>C p.V115= Synonymous 2/2 - 9
5-137802483-G-T c.345G>T p.V115= Synonymous 2/2 - 9
5-137802484-C-A c.346C>A p.L116M Missense 2/2 - 3
5-137802484-C-G c.346C>G p.L116V Missense 2/2 - 5
5-137802484-C-T c.346C>T p.L116= Synonymous 2/2 - 24
5-137802484-CTG-ATC c.346_348delinsATC p.L116I Missense 2/2 - 1
5-137802484-CTG-TTT c.346_348delinsTTT p.L116F Missense 2/2 - 14
5-137802485-T-A c.347T>A p.L116Q Missense 2/2 - 5
5-137802485-T-C c.347T>C p.L116P Missense 2/2 - 9
5-137802485-T-G c.347T>G p.L116R Missense 2/2 - 4
5-137802486-G-A c.348G>A p.L116= Synonymous 2/2 - 23
5-137802486-G-C c.348G>C p.L116= Synonymous 2/2 - 19
5-137802486-G-GACCGTC c.348_349insACCGTC p.L116_V117insTV InFrameInsertion 2/2 - 1
5-137802486-G-T c.348G>T p.L116= Synonymous 2/2 - 20
5-137802485-TG-T c.349del p.V117Wfs*45 Frameshift 2/2 - 1
5-137802487-G-A c.349G>A p.V117M Missense 2/2 - 17
5-137802487-G-C c.349G>C p.V117L Missense 2/2 - 11
5-137802487-G-GC c.349_350insC p.V117Afs*99 Frameshift 2/2 - 1
5-137802487-G-T c.349G>T p.V117L Missense 2/2 - 11
5-137802487-GTG-ATC c.349_351delinsATC p.V117I Missense 2/2 - 5
5-137802487-GTG-TTT c.349_351delinsTTT p.V117F Missense 2/2 - 3
5-137802487-GT-TC c.349_350delinsTC p.V117S Missense 2/2 - 1
5-137802488-T-A c.350T>A p.V117E Missense 2/2 - 6
5-137802488-T-C c.350T>C p.V117A Missense 2/2 - 12
5-137802488-T-G c.350T>G p.V117G Missense 2/2 - 2
5-137802488-TG-AC c.350_351delinsAC p.V117D Missense 2/2 - 3
5-137802488-T-TGCG c.351_352insCGG p.V117_E118insR InFrameInsertion 2/2 - 1
5-137802489-G-A c.351G>A p.V117= Synonymous 2/2 - 16
5-137802489-G-C c.351G>C p.V117= Synonymous 2/2 - 8
5-137802489-G-T c.351G>T p.V117= Synonymous 2/2 - 13
5-137802488-TG-T c.352del p.E118Rfs*44 Frameshift 2/2 - 1
5-137802488-T-TG c.352dup p.E118Gfs*98 Frameshift 2/2 - 1
5-137802490-G-A c.352G>A p.E118K Missense 2/2 - 31
5-137802490-GA-CC c.352_353delinsCC p.E118P Missense 2/2 - 2
5-137802490-G-C c.352G>C p.E118Q Missense 2/2 - 6
5-137802490-G-T c.352G>T p.E118* Nonsense 2/2 - 8
5-137802491-A-C c.353A>C p.E118A Missense 2/2 - 8
5-137802491-A-G c.353A>G p.E118G Missense 2/2 - 15
5-137802491-A-T c.353A>T p.E118V Missense 2/2 - 6
5-137802490-G-GAGGCAGCAGCAGCAGCAGCAGCAGC c.354_355insGCAGCAGCAGCAGCAGCAGCAGCAG p.T119Afs*105 Frameshift 2/2 - 1
5-137802491-A-AGC c.354_355insCG p.T119Rfs*44 Frameshift 2/2 - 1
5-137802492-G-A c.354G>A p.E118= Synonymous 2/2 - 16
5-137802492-G-C c.354G>C p.E118D Missense 2/2 - 13
5-137802492-G-T c.354G>T p.E118D Missense 2/2 - 10
5-137802493-A-C c.355A>C p.T119P Missense 2/2 - 7
5-137802493-AC-CT c.355_356delinsCT p.T119L Missense 2/2 - 1
5-137802493-ACC-TAA c.355_357delinsTAA p.T119* Nonsense 2/2 - 2
5-137802493-AC-GG c.355_356delinsGG p.T119G Missense 2/2 - 1
5-137802493-AC-TG c.355_356delinsTG p.T119C Missense 2/2 - 1
5-137802493-A-G c.355A>G p.T119A Missense 2/2 - 15
5-137802493-A-T c.355A>T p.T119S Missense 2/2 - 5
5-137802494-C-A c.356C>A p.T119N Missense 2/2 - 8
5-137802494-CC-AG c.356_357delinsAG p.T119K Missense 2/2 - 1
5-137802494-CC-TG c.356_357delinsTG p.T119M Missense 2/2 - 15
5-137802494-C-G c.356C>G p.T119S Missense 2/2 - 7
5-137802494-C-T c.356C>T p.T119I Missense 2/2 - 14
5-137802495-C-A c.357C>A p.T119= Synonymous 2/2 - 15
5-137802495-C-CT c.357_358insT p.S120* Nonsense 2/2 - 1
5-137802495-C-G c.357C>G p.T119= Synonymous 2/2 - 12
5-137802495-C-T c.357C>T p.T119= Synonymous 2/2 - 17
5-137802496-A-C c.358A>C p.S120R Missense 2/2 - 4
5-137802496-A-G c.358A>G p.S120G Missense 2/2 - 14
5-137802496-AG-CA c.358_359delinsCA p.S120H Missense 2/2 - 1
5-137802496-AG-CC c.358_359delinsCC p.S120P Missense 2/2 - 5
5-137802496-AG-CT c.358_359inv p.S120L Missense 2/2 - 6
5-137802496-AG-GC c.358_359delinsGC p.S120A Missense 2/2 - 8
5-137802496-AG-TA c.358_359delinsTA p.S120Y Missense 2/2 - 2
5-137802496-AG-TT c.358_359delinsTT p.S120F Missense 2/2 - 7
5-137802496-AGT-TGA c.358_360delinsTGA p.S120* Nonsense 2/2 - 2
5-137802496-A-T c.358A>T p.S120C Missense 2/2 - 10
5-137802497-G-A c.359G>A p.S120N Missense 2/2 - 13
5-137802497-G-C c.359G>C p.S120T Missense 2/2 - 7
5-137802497-G-GA c.359_360insA p.S120Rfs*96 Frameshift 2/2 - 1
5-137802497-G-T c.359G>T p.S120I Missense 2/2 - 2
5-137802498-T-A c.360T>A p.S120R Missense 2/2 - 7
5-137802498-T-C c.360T>C p.S120= Synonymous 2/2 - 16
5-137802498-T-G c.360T>G p.S120R Missense 2/2 - 4
5-137802497-G-GT c.361dup p.Y121Lfs*95 Frameshift 2/2 - 1
5-137802497-GT-G c.361del p.Y121Tfs*41 Frameshift 2/2 - 1
5-137802499-T-A c.361T>A p.Y121N Missense 2/2 - 3
5-137802499-TA-GC c.361_362delinsGC p.Y121A Missense 2/2 - 2
5-137802499-T-C c.361T>C p.Y121H Missense 2/2 - 13
5-137802499-T-G c.361T>G p.Y121D Missense 2/2 - 5
5-137802499-T-TA c.362dup p.Y121* Nonsense 2/2 - 1
5-137802500-A-C c.362A>C p.Y121S Missense 2/2 - 5
5-137802500-A-G c.362A>G p.Y121C Missense 2/2 - 14
5-137802500-A-T c.362A>T p.Y121F Missense 2/2 - 13
5-137802501-C-A c.363C>A p.Y121* Nonsense 2/2 - 9
5-137802501-C-G c.363C>G p.Y121* Nonsense 2/2 - 6
5-137802501-C-T c.363C>T p.Y121= Synonymous 2/2 - 13
5-137802502-C-A c.364C>A p.P122T Missense 2/2 - 4
5-137802502-CC-TT c.364_365delinsTT p.P122F Missense 2/2 - 1
5-137802502-C-G c.364C>G p.P122A Missense 2/2 - 5
5-137802502-C-T c.364C>T p.P122S Missense 2/2 - 30
5-137802503-C-A c.365C>A p.P122H Missense 2/2 - 3
5-137802503-CC-AA c.365_366delinsAA p.P122Q Missense 2/2 - 1
5-137802503-C-CTGTGAA c.365_366insTGTGAA p.P122_S123insVN InFrameInsertion 2/2 - 1
5-137802503-C-G c.365C>G p.P122R Missense 2/2 - 4
5-137802503-C-T c.365C>T p.P122L Missense 2/2 - 15
5-137802504-C-A c.366C>A p.P122= Synonymous 2/2 - 8
5-137802504-C-CT c.366_367insT p.S123* Nonsense 2/2 - 2
5-137802504-C-G c.366C>G p.P122= Synonymous 2/2 - 10
5-137802504-C-T c.366C>T p.P122= Synonymous 2/2 - 14
5-137802505-A-ACCAGCTGCTTCAGACCCCAGTGCTGCCAGTCTGTGTGCTGCCAGC c.367_368insCCAGCTGCTTCAGACCCCAGTGCTGCCAGTCTGTGTGCTGCCAGC p.S123delinsTSCFRPQCCQSVCCQR MultiAAMissense 2/2 - 1
5-137802505-A-C c.367A>C p.S123R Missense 2/2 - 8
5-137802505-A-G c.367A>G p.S123G Missense 2/2 - 6
5-137802505-AG-CA c.367_368delinsCA p.S123H Missense 2/2 - 1
5-137802505-AG-CC c.367_368delinsCC p.S123P Missense 2/2 - 4
5-137802505-AG-CT c.367_368inv p.S123L Missense 2/2 - 6
5-137802505-AGC-TGA c.367_369delinsTGA p.S123* Nonsense 2/2 - 3
5-137802505-AG-GC c.367_368delinsGC p.S123A Missense 2/2 - 3
5-137802505-AG-TA c.367_368delinsTA p.S123Y Missense 2/2 - 2
5-137802505-AG-TT c.367_368delinsTT p.S123F Missense 2/2 - 7
5-137802505-A-T c.367A>T p.S123C Missense 2/2 - 4
5-137802506-G-A c.368G>A p.S123N Missense 2/2 - 19
5-137802506-G-C c.368G>C p.S123T Missense 2/2 - 7
5-137802506-G-T c.368G>T p.S123I Missense 2/2 - 6
5-137802507-C-A c.369C>A p.S123R Missense 2/2 - 7
5-137802507-C-G c.369C>G p.S123R Missense 2/2 - 7
5-137802507-C-T c.369C>T p.S123= Synonymous 2/2 - 15
5-137802506-GC-G c.370del p.Q124Kfs*38 Frameshift 2/2 - 1
5-137802508-C-A c.370C>A p.Q124K Missense 2/2 - 4
5-137802508-C-G c.370C>G p.Q124E Missense 2/2 - 5
5-137802508-C-T c.370C>T p.Q124* Nonsense 2/2 - 18
5-137802509-A-C c.371A>C p.Q124P Missense 2/2 - 8
5-137802509-A-G c.371A>G p.Q124R Missense 2/2 - 12
5-137802509-A-T c.371A>T p.Q124L Missense 2/2 - 6
5-137802510-A-C c.372A>C p.Q124H Missense 2/2 - 11
5-137802510-A-G c.372A>G p.Q124= Synonymous 2/2 - 15
5-137802510-A-T c.372A>T p.Q124H Missense 2/2 - 7
5-137802508-CA-C c.373del p.T125Pfs*37 Frameshift 2/2 - 1
5-137802511-A-C c.373A>C p.T125P Missense 2/2 - 9
5-137802511-ACC-CAA c.373_375delinsCAA p.T125Q Missense 2/2 - 1
5-137802511-ACC-GAG c.373_375delinsGAG p.T125E Missense 2/2 - 1
5-137802511-ACC-TGG c.373_375delinsTGG p.T125W Missense 2/2 - 1
5-137802511-AC-GT c.373_374inv p.T125V Missense 2/2 - 1
5-137802511-AC-TT c.373_374delinsTT p.T125F Missense 2/2 - 1
5-137802511-A-G c.373A>G p.T125A Missense 2/2 - 20
5-137802511-A-T c.373A>T p.T125S Missense 2/2 - 9
5-137802512-C-A c.374C>A p.T125N Missense 2/2 - 5
5-137802512-CC-AG c.374_375delinsAG p.T125K Missense 2/2 - 6
5-137802512-CC-GG c.374_375inv p.T125R Missense 2/2 - 2
5-137802512-CC-TG c.374_375delinsTG p.T125M Missense 2/2 - 9
5-137802512-C-G c.374C>G p.T125S Missense 2/2 - 4
5-137802512-C-T c.374C>T p.T125I Missense 2/2 - 15
5-137802513-C-A c.375C>A p.T125= Synonymous 2/2 - 13
5-137802513-C-G c.375C>G p.T125= Synonymous 2/2 - 16
5-137802513-C-T c.375C>T p.T125= Synonymous 2/2 - 19
5-137802514-A-C c.376A>C p.T126P Missense 2/2 - 7
5-137802514-AC-CA c.376_377delinsCA p.T126H Missense 2/2 - 1
5-137802514-AC-GA c.376_377delinsGA p.T126D Missense 2/2 - 1
5-137802514-AC-TA c.376_377delinsTA p.T126Y Missense 2/2 - 2
5-137802514-AC-TG c.376_377delinsTG p.T126C Missense 2/2 - 1
5-137802514-ACT-GAG c.376_378delinsGAG p.T126E Missense 2/2 - 1
5-137802514-ACT-TAA c.376_378delinsTAA p.T126* Nonsense 2/2 - 1
5-137802514-ACT-TGG c.376_378delinsTGG p.T126W Missense 2/2 - 1
5-137802514-A-G c.376A>G p.T126A Missense 2/2 - 17
5-137802514-A-T c.376A>T p.T126S Missense 2/2 - 6
5-137802514-CACT-C c.376_378del p.T126del InFrameDeletion 2/2 - 1
5-137802515-C-A c.377C>A p.T126N Missense 2/2 - 2
5-137802515-C-G c.377C>G p.T126S Missense 2/2 - 7
5-137802515-C-T c.377C>T p.T126I Missense 2/2 - 14
5-137802515-CT-AG c.377_378inv p.T126K Missense 2/2 - 2
5-137802515-CT-GG c.377_378delinsGG p.T126R Missense 2/2 - 2
5-137802515-CT-TG c.377_378delinsTG p.T126M Missense 2/2 - 3
5-137802516-CT-C c.378del p.R127Dfs*35 Frameshift 2/2 - 1
5-137802516-T-A c.378T>A p.T126= Synonymous 2/2 - 10
5-137802516-T-C c.378T>C p.T126= Synonymous 2/2 - 14
5-137802516-T-G c.378T>G p.T126= Synonymous 2/2 - 10
5-137802516-T-TC c.379dup p.R127Pfs*89 Frameshift 2/2 - 1
5-137802516-T-TCA c.379_380insAC p.R127Hfs*36 Frameshift 2/2 - 1
5-137802516-T-TCAGCAGCAGCAGCAGCAGCAGCAGCAG c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGC p.T126_R127insQQQQQQQQQ InFrameInsertion 2/2 - 1
5-137802516-T-TCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC p.T126_R127insQQQQQQQQQQ InFrameInsertion 2/2 - 1
5-137802516-T-TCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC p.T126_R127insQQQQQQQQQQQQ InFrameInsertion 2/2 - 1
5-137802516-T-TCCAGCAGCAGCAGCAGCAG c.379_380insCAGCAGCAGCAGCAGCAGC p.R127Pfs*95 Frameshift 2/2 - 1
5-137802517-C-A c.379C>A p.R127= Synonymous 2/2 - 9
5-137802517-C-CA c.379_380insA p.R127Qfs*89 Frameshift 2/2 - 1
5-137802517-C-G c.379C>G p.R127G Missense 2/2 - 4
5-137802517-CG-AA c.379_380delinsAA p.R127K Missense 2/2 - 5
5-137802517-CGA-AAC c.379_381delinsAAC p.R127N Missense 2/2 - 1
5-137802517-CGA-AGC c.379_381delinsAGC p.R127S Missense 2/2 - 3
5-137802517-CG-AC c.379_380delinsAC p.R127T Missense 2/2 - 1
5-137802517-CGA-TGG c.379_381delinsTGG p.R127W Missense 2/2 - 6
5-137802517-CGA-TGT c.379_381delinsTGT p.R127C Missense 2/2 - 8
5-137802517-CG-GC c.379_380delinsGC p.R127A Missense 2/2 - 2
5-137802517-C-T c.379C>T p.R127* Nonsense 2/2 - 15
5-137802519-A-T c.381A>T p.R127= Synonymous 2/2 - 8
5-137802518-G-A c.380G>A p.R127Q Missense 2/2 - 21
5-137802518-GA-AT c.380_381delinsAT p.R127H Missense 2/2 - 13
5-137802518-G-C c.380G>C p.R127P Missense 2/2 - 6
5-137802518-G-T c.380G>T p.R127L Missense 2/2 - 6
5-137802518-G-GA c.381dup p.L128Tfs*88 Frameshift 2/2 - 1
5-137802519-A-C c.381A>C p.R127= Synonymous 2/2 - 9
5-137802519-A-G c.381A>G p.R127= Synonymous 2/2 - 10
5-137802519-A-AC c.382dup p.L128Pfs*88 Frameshift 2/2 - 1
5-137802520-AC-A c.382del p.L128Cfs*34 Frameshift 2/2 - 2
5-137802520-C-A c.382C>A p.L128M Missense 2/2 - 7
5-137802520-C-G c.382C>G p.L128V Missense 2/2 - 4
5-137802520-CTG-ATC c.382_384delinsATC p.L128I Missense 2/2 - 4
5-137802520-CTG-TTT c.382_384delinsTTT p.L128F Missense 2/2 - 7
5-137802520-CT-TA c.382_383delinsTA p.L128* Nonsense 2/2 - 1
5-137802520-CT-TC c.382_383delinsTC p.L128S Missense 2/2 - 2
5-137802521-T-A c.383T>A p.L128Q Missense 2/2 - 7
5-137802521-T-C c.383T>C p.L128P Missense 2/2 - 10
5-137802521-T-G c.383T>G p.L128R Missense 2/2 - 1
5-137802521-TG-AT c.383_384delinsAT p.L128H Missense 2/2 - 2
5-137802520-C-T c.382C>T p.L128= Synonymous 2/2 - 18
5-137802521-T-TG c.384dup p.P129Afs*87 Frameshift 2/2 - 1
5-137802522-G-A c.384G>A p.L128= Synonymous 2/2 - 18
5-137802522-G-C c.384G>C p.L128= Synonymous 2/2 - 13
5-137802522-G-GAGGAATCCTAGTGTCCATGGCCTTTGACAGATTTGTGGCCATC c.384_385insAGGAATCCTAGTGTCCATGGCCTTTGACAGATTTGTGGCCATC p.P129Rfs*9 Frameshift 2/2 - 1
5-137802522-G-T c.384G>T p.L128= Synonymous 2/2 - 11
5-137802522-TG-T c.384del p.I131Sfs*31 Frameshift 2/2 - 1
5-137802523-C-A c.385C>A p.P129T Missense 2/2 - 7
5-137802523-CC-TG c.385_386delinsTG p.P129C Missense 2/2 - 1
5-137802523-CC-TT c.385_386delinsTT p.P129F Missense 2/2 - 1
5-137802523-C-G c.385C>G p.P129A Missense 2/2 - 6
5-137802523-C-T c.385C>T p.P129S Missense 2/2 - 16
5-137802524-C-A c.386C>A p.P129H Missense 2/2 - 2
5-137802524-CC-AA c.386_387delinsAA p.P129Q Missense 2/2 - 1
5-137802524-C-G c.386C>G p.P129R Missense 2/2 - 4
5-137802524-C-T c.386C>T p.P129L Missense 2/2 - 17
5-137802525-C-A c.387C>A p.P129= Synonymous 2/2 - 13
5-137802525-C-CGCG c.387_388insGCG p.P129_P130insA InFrameInsertion 2/2 - 1
5-137802525-C-CTG c.387_388insTG p.P130Cfs*33 Frameshift 2/2 - 1
5-137802525-C-G c.387C>G p.P129= Synonymous 2/2 - 10
5-137802525-C-T c.387C>T p.P129= Synonymous 2/2 - 18
5-137802522-GCCC-G c.388_390del p.P130del InFrameDeletion 2/2 - 1
5-137802526-C-A c.388C>A p.P130T Missense 2/2 - 12
5-137802526-CC-AA c.388_389delinsAA p.P130N Missense 2/2 - 1
5-137802526-CC-TT c.388_389delinsTT p.P130F Missense 2/2 - 1
5-137802526-C-G c.388C>G p.P130A Missense 2/2 - 9
5-137802526-C-T c.388C>T p.P130S Missense 2/2 - 19
5-137802525-CCCCAT-C c.389_393del p.P130Hfs*84 Frameshift 2/2 - 1
5-137802527-C-A c.389C>A p.P130H Missense 2/2 - 6
5-137802527-CC-AA c.389_390delinsAA p.P130Q Missense 2/2 - 1
5-137802527-C-G c.389C>G p.P130R Missense 2/2 - 6
5-137802527-C-T c.389C>T p.P130L Missense 2/2 - 19
5-137802522-GC-G c.390del p.I131Sfs*31 Frameshift 2/2 - 4
5-137802528-C-A c.390C>A p.P130= Synonymous 2/2 - 11
5-137802528-C-G c.390C>G p.P130= Synonymous 2/2 - 8
5-137802528-C-T c.390C>T p.P130= Synonymous 2/2 - 18
5-137802529-A-C c.391A>C p.I131L Missense 2/2 - 6
5-137802529-A-G c.391A>G p.I131V Missense 2/2 - 11
5-137802529-A-T c.391A>T p.I131F Missense 2/2 - 3
5-137802529-ATC-TAA c.391_393delinsTAA p.I131* Nonsense 2/2 - 1
5-137802527-CCAT-C c.392_394del p.I131del InFrameDeletion 2/2 - 1
5-137802530-AT-A c.392del p.I131Tfs*31 Frameshift 2/2 - 1
5-137802530-T-A c.392T>A p.I131N Missense 2/2 - 5
5-137802530-T-C c.392T>C p.I131T Missense 2/2 - 13
5-137802530-TC-GG c.392_393delinsGG p.I131R Missense 2/2 - 1
5-137802530-T-G c.392T>G p.I131S Missense 2/2 - 4
5-137802530-T-TTA c.392_393insTA p.Y133Pfs*30 Frameshift 2/2 - 1
5-137802531-C-A c.393C>A p.I131= Synonymous 2/2 - 10
5-137802531-C-CTTG c.393_394insTTG p.I131_T132insL InFrameInsertion 2/2 - 1
5-137802531-C-G c.393C>G p.I131M Missense 2/2 - 6
5-137802531-C-T c.393C>T p.I131= Synonymous 2/2 - 15
5-137802531-TC-T c.393del p.T132Pfs*30 Frameshift 2/2 - 1
5-137802532-A-C c.394A>C p.T132P Missense 2/2 - 7
5-137802532-ACC-GAG c.394_396delinsGAG p.T132E Missense 2/2 - 1
5-137802532-AC-GA c.394_395delinsGA p.T132D Missense 2/2 - 1
5-137802532-AC-TA c.394_395delinsTA p.T132Y Missense 2/2 - 1
5-137802532-AC-TG c.394_395delinsTG p.T132C Missense 2/2 - 2
5-137802532-A-G c.394A>G p.T132A Missense 2/2 - 13
5-137802532-A-T c.394A>T p.T132S Missense 2/2 - 7
5-137802533-ACCTATAC-A c.395_401del p.T132Mfs*28 Frameshift 2/2 - 1
5-137802533-C-A c.395C>A p.T132N Missense 2/2 - 4
5-137802533-CC-AG c.395_396delinsAG p.T132K Missense 2/2 - 1
5-137802533-CC-GG c.395_396inv p.T132R Missense 2/2 - 1
5-137802533-CC-TG c.395_396delinsTG p.T132M Missense 2/2 - 4
5-137802533-C-G c.395C>G p.T132S Missense 2/2 - 5
5-137802533-C-T c.395C>T p.T132I Missense 2/2 - 17
5-137802532-AC-A c.396del p.Y133Ifs*29 Frameshift 2/2 - 1
5-137802534-C-A c.396C>A p.T132= Synonymous 2/2 - 12
5-137802534-C-CA c.396_397insA p.Y133Ifs*83 Frameshift 2/2 - 1
5-137802534-CCT-C c.396_397del p.T134Wfs*81 Frameshift 2/2 - 1
5-137802534-C-G c.396C>G p.T132= Synonymous 2/2 - 10
5-137802534-C-T c.396C>T p.T132= Synonymous 2/2 - 12
5-137802535-T-A c.397T>A p.Y133N Missense 2/2 - 2
5-137802535-T-C c.397T>C p.Y133H Missense 2/2 - 6
5-137802535-T-G c.397T>G p.Y133D Missense 2/2 - 4
5-137802536-A-C c.398A>C p.Y133S Missense 2/2 - 1
5-137802536-A-G c.398A>G p.Y133C Missense 2/2 - 10
5-137802536-A-T c.398A>T p.Y133F Missense 2/2 - 7
5-137802537-T-A c.399T>A p.Y133* Nonsense 2/2 - 2
5-137802537-T-C c.399T>C p.Y133= Synonymous 2/2 - 17
5-137802537-T-G c.399T>G p.Y133* Nonsense 2/2 - 5
5-137802536-ATAC-A c.400_402del p.T134del InFrameDeletion 2/2 - 1
5-137802538-A-C c.400A>C p.T134P Missense 2/2 - 7
5-137802538-AC-CA c.400_401delinsCA p.T134H Missense 2/2 - 1
5-137802538-AC-GT c.400_401inv p.T134V Missense 2/2 - 1
5-137802538-AC-TA c.400_401delinsTA p.T134Y Missense 2/2 - 1
5-137802538-AC-TG c.400_401delinsTG p.T134C Missense 2/2 - 2
5-137802538-ACT-GAG c.400_402delinsGAG p.T134E Missense 2/2 - 1
5-137802538-A-G c.400A>G p.T134A Missense 2/2 - 15
5-137802538-A-T c.400A>T p.T134S Missense 2/2 - 9
5-137802539-ACT-A c.401_402del p.T134Rfs*81 Frameshift 2/2 - 1
5-137802539-C-A c.401C>A p.T134N Missense 2/2 - 4
5-137802539-C-G c.401C>G p.T134S Missense 2/2 - 7
5-137802539-C-T c.401C>T p.T134I Missense 2/2 - 14
5-137802539-CT-AG c.401_402inv p.T134K Missense 2/2 - 1
5-137802539-CT-TG c.401_402delinsTG p.T134M Missense 2/2 - 1
5-137802540-T-A c.402T>A p.T134= Synonymous 2/2 - 14
5-137802540-T-C c.402T>C p.T134= Synonymous 2/2 - 14
5-137802540-T-G c.402T>G p.T134= Synonymous 2/2 - 13
5-137802541-G-A c.403G>A p.G135S Missense 2/2 - 15
5-137802541-G-C c.403G>C p.G135R Missense 2/2 - 9
5-137802541-GG-AC c.403_404delinsAC p.G135T Missense 2/2 - 1
5-137802541-GG-CC c.403_404inv p.G135P Missense 2/2 - 1
5-137802541-GGC-TGA c.403_405delinsTGA p.G135* Nonsense 2/2 - 1
5-137802541-GGC-TGG c.403_405delinsTGG p.G135W Missense 2/2 - 2
5-137802541-G-T c.403G>T p.G135C Missense 2/2 - 8
5-137802540-TGGCC-T c.404_407del p.G135Afs*26 Frameshift 2/2 - 1
5-137802540-T-TGGTGTGGAGAGGGCGGGGTGTGGAGAGGGTGGGGTGTGG c.404_405insTGTGGAGAGGGCGGGGTGTGGAGAGGGTGGGGTGTGGGG p.G135_R136insVERAGCGEGGVWG InFrameInsertion 2/2 - 1
5-137802542-G-A c.404G>A p.G135D Missense 2/2 - 20
5-137802542-G-C c.404G>C p.G135A Missense 2/2 - 4
5-137802542-GC-AG c.404_405delinsAG p.G135E Missense 2/2 - 7
5-137802542-G-T c.404G>T p.G135V Missense 2/2 - 7
5-137802542-G-GCA c.405_406insAC p.R136Tfs*27 Frameshift 2/2 - 1
5-137802543-C-A c.405C>A p.G135= Synonymous 2/2 - 11
5-137802543-C-G c.405C>G p.G135= Synonymous 2/2 - 9
5-137802543-C-T c.405C>T p.G135= Synonymous 2/2 - 16
5-137802542-G-GC c.406dup p.R136Pfs*80 Frameshift 2/2 - 1
5-137802544-C-A c.406C>A p.R136S Missense 2/2 - 10
5-137802544-C-G c.406C>G p.R136G Missense 2/2 - 9
5-137802544-CG-AT c.406_407delinsAT p.R136I Missense 2/2 - 3
5-137802544-CGC-AAG c.406_408delinsAAG p.R136K Missense 2/2 - 6
5-137802544-CGC-TGA c.406_408delinsTGA p.R136* Nonsense 2/2 - 5
5-137802544-CGC-TGG c.406_408delinsTGG p.R136W Missense 2/2 - 7
5-137802544-CG-GA c.406_407delinsGA p.R136D Missense 2/2 - 2
5-137802544-CG-GC c.406_407delinsGC p.R136A Missense 2/2 - 2
5-137802544-C-T c.406C>T p.R136C Missense 2/2 - 17
5-137802545-G-A c.407G>A p.R136H Missense 2/2 - 20
5-137802545-G-C c.407G>C p.R136P Missense 2/2 - 7
5-137802545-GC-AA c.407_408delinsAA p.R136Q Missense 2/2 - 9
5-137802545-G-T c.407G>T p.R136L Missense 2/2 - 5
5-137802546-C-A c.408C>A p.R136= Synonymous 2/2 - 16
5-137802546-C-G c.408C>G p.R136= Synonymous 2/2 - 13
5-137802546-C-T c.408C>T p.R136= Synonymous 2/2 - 18
5-137802547-CTTTTCCCTGGAGCCTGCACCCAACAGTGGCAACACCTTGTGGCCCGAGCCCCTCTTCAG-C c.409_467del p.F137Lfs*59 InFrameDeletion 2/2 - 1
5-137802547-T-A c.409T>A p.F137I Missense 2/2 - 3
5-137802547-T-C c.409T>C p.F137L Missense 2/2 - 10
5-137802547-T-G c.409T>G p.F137V Missense 2/2 - 3
5-137802549-T-A c.411T>A p.F137L Missense 2/2 - 7
5-137802549-T-G c.411T>G p.F137L Missense 2/2 - 7
5-137802548-T-A c.410T>A p.F137Y Missense 2/2 - 4
5-137802548-T-C c.410T>C p.F137S Missense 2/2 - 9
5-137802548-T-G c.410T>G p.F137C Missense 2/2 - 1
5-137802546-CTT-C c.411_412del p.S138Pfs*77 Frameshift 2/2 - 1
5-137802549-T-C c.411T>C p.F137= Synonymous 2/2 - 14
5-137802550-T-A c.412T>A p.S138T Missense 2/2 - 5
5-137802550-T-C c.412T>C p.S138P Missense 2/2 - 11
5-137802550-TC-AA c.412_413delinsAA p.S138N Missense 2/2 - 9
5-137802550-TC-AT c.412_413delinsAT p.S138I Missense 2/2 - 1
5-137802550-TC-CA c.412_413delinsCA p.S138H Missense 2/2 - 1
5-137802550-TC-CG c.412_413delinsCG p.S138R Missense 2/2 - 3
5-137802550-TCC-GAG c.412_414delinsGAG p.S138E Missense 2/2 - 1
5-137802550-TC-CT c.412_413delinsCT p.S138L Missense 2/2 - 5
5-137802550-TC-GG c.412_413delinsGG p.S138G Missense 2/2 - 2
5-137802550-TC-GT c.412_413delinsGT p.S138V Missense 2/2 - 1
5-137802550-T-G c.412T>G p.S138A Missense 2/2 - 11
5-137802551-C-A c.413C>A p.S138Y Missense 2/2 - 4
5-137802551-C-G c.413C>G p.S138C Missense 2/2 - 4
5-137802551-C-T c.413C>T p.S138F Missense 2/2 - 21
5-137802552-C-A c.414C>A p.S138= Synonymous 2/2 - 10
5-137802552-C-G c.414C>G p.S138= Synonymous 2/2 - 11
5-137802552-C-T c.414C>T p.S138= Synonymous 2/2 - 17
5-137802553-C-A c.415C>A p.L139M Missense 2/2 - 4
5-137802553-C-G c.415C>G p.L139V Missense 2/2 - 12
5-137802553-CTG-ATC c.415_417delinsATC p.L139I Missense 2/2 - 6
5-137802553-CT-GC c.415_416delinsGC p.L139A Missense 2/2 - 1
5-137802553-CTG-TGT c.415_417delinsTGT p.L139C Missense 2/2 - 1
5-137802553-CTG-TTT c.415_417delinsTTT p.L139F Missense 2/2 - 8
5-137802553-CT-TC c.415_416delinsTC p.L139S Missense 2/2 - 2
5-137802554-T-A c.416T>A p.L139Q Missense 2/2 - 2
5-137802554-T-C c.416T>C p.L139P Missense 2/2 - 6
5-137802554-T-G c.416T>G p.L139R Missense 2/2 - 4
5-137802553-C-T c.415C>T p.L139= Synonymous 2/2 - 19
5-137802554-T-TGACGC c.417_418insACGCG p.E140Tfs*24 Frameshift 2/2 - 1
5-137802554-T-TGATGC c.417_418insATGCG p.E140Mfs*24 Frameshift 2/2 - 1
5-137802555-G-A c.417G>A p.L139= Synonymous 2/2 - 23
5-137802555-G-C c.417G>C p.L139= Synonymous 2/2 - 17
5-137802555-G-GT c.417_418insT p.E140* Nonsense 2/2 - 1
5-137802555-G-T c.417G>T p.L139= Synonymous 2/2 - 13
5-137802555-TGGAGCCTGCA-T c.417_426del p.E140Pfs*19 Frameshift 2/2 - 1
5-137802554-T-TG c.418dup p.E140Gfs*76 Frameshift 2/2 - 1
5-137802556-G-A c.418G>A p.E140K Missense 2/2 - 23
5-137802556-GA-AT c.418_419delinsAT p.E140M Missense 2/2 - 1
5-137802556-GAG-TGT c.418_420delinsTGT p.E140C Missense 2/2 - 1
5-137802556-G-C c.418G>C p.E140Q Missense 2/2 - 10
5-137802556-G-T c.418G>T p.E140* Nonsense 2/2 - 10
5-137802557-A-C c.419A>C p.E140A Missense 2/2 - 7
5-137802557-A-G c.419A>G p.E140G Missense 2/2 - 11
5-137802557-A-T c.419A>T p.E140V Missense 2/2 - 7
5-137802558-G-A c.420G>A p.E140= Synonymous 2/2 - 8
5-137802558-G-C c.420G>C p.E140D Missense 2/2 - 10
5-137802558-G-T c.420G>T p.E140D Missense 2/2 - 8
5-137802559-C-A c.421C>A p.P141T Missense 2/2 - 9
5-137802559-CC-GG c.421_422inv p.P141G Missense 2/2 - 1
5-137802559-C-G c.421C>G p.P141A Missense 2/2 - 6
5-137802559-C-T c.421C>T p.P141S Missense 2/2 - 14
5-137802559-GCCT-G c.421_423del p.P141del InFrameDeletion 2/2 - 1
5-137802560-C-A c.422C>A p.P141H Missense 2/2 - 11
5-137802560-CCTGCACCCAACAG-C c.422_434del p.P141Lfs*17 Frameshift 2/2 - 1
5-137802560-C-G c.422C>G p.P141R Missense 2/2 - 3
5-137802560-C-T c.422C>T p.P141L Missense 2/2 - 19
5-137802560-CT-AA c.422_423delinsAA p.P141Q Missense 2/2 - 2
5-137802560-C-CT c.423dup p.A142Cfs*74 Frameshift 2/2 - 2
5-137802561-CTG-C c.423_424del p.A142Tfs*73 Frameshift 2/2 - 1
5-137802561-T-A c.423T>A p.P141= Synonymous 2/2 - 14
5-137802561-T-C c.423T>C p.P141= Synonymous 2/2 - 18
5-137802561-T-G c.423T>G p.P141= Synonymous 2/2 - 15
5-137802560-C-CTGGACGAAA c.424_425insGACGAAATG p.P141_A142insGRN InFrameInsertion 2/2 - 1
5-137802562-G-A c.424G>A p.A142T Missense 2/2 - 28
5-137802562-G-C c.424G>C p.A142P Missense 2/2 - 4
5-137802562-GC-AG c.424_425delinsAG p.A142R Missense 2/2 - 1
5-137802562-GCA-TGT c.424_426delinsTGT p.A142C Missense 2/2 - 2
5-137802562-GC-CA c.424_425delinsCA p.A142Q Missense 2/2 - 1
5-137802562-G-T c.424G>T p.A142S Missense 2/2 - 11
5-137802562-TG-T c.424del p.A142Hfs*20 Frameshift 2/2 - 1
5-137802563-C-A c.425C>A p.A142E Missense 2/2 - 3
5-137802563-CA-AC c.425_426delinsAC p.A142D Missense 2/2 - 3
5-137802563-C-G c.425C>G p.A142G Missense 2/2 - 6
5-137802563-C-T c.425C>T p.A142V Missense 2/2 - 19
5-137802563-GC-G c.425del p.A142Dfs*20 Frameshift 2/2 - 1
5-137802564-A-C c.426A>C p.A142= Synonymous 2/2 - 8
5-137802564-A-G c.426A>G p.A142= Synonymous 2/2 - 11
5-137802564-A-T c.426A>T p.A142= Synonymous 2/2 - 11
5-137802564-CACCCAACAGTGGCAACACCTTGTGGCCCGAGCCCCTCTTCAGCTTGGTCAGTGGCCTAG-C c.426_484del p.P143Efs*53 InFrameDeletion 2/2 - 1
5-137802565-ACCC-A c.427_429del p.P143del InFrameDeletion 2/2 - 1
5-137802565-C-A c.427C>A p.P143T Missense 2/2 - 10
5-137802565-CCC-ATG c.427_429delinsATG p.P143M Missense 2/2 - 1
5-137802565-C-CTGCGCG c.427_428insTGCGCG p.P143delinsLRA MultiAAMissense 2/2 - 1
5-137802565-C-G c.427C>G p.P143A Missense 2/2 - 3
5-137802565-C-T c.427C>T p.P143S Missense 2/2 - 23
5-137802566-C-A c.428C>A p.P143H Missense 2/2 - 7
5-137802566-C-G c.428C>G p.P143R Missense 2/2 - 2
5-137802566-C-T c.428C>T p.P143L Missense 2/2 - 15
5-137802567-C-A c.429C>A p.P143= Synonymous 2/2 - 10
5-137802567-C-G c.429C>G p.P143= Synonymous 2/2 - 6
5-137802567-C-T c.429C>T p.P143= Synonymous 2/2 - 16
5-137802568-AA-GC c.430_431delinsGC p.N144A Missense 2/2 - 1
5-137802568-A-C c.430A>C p.N144H Missense 2/2 - 6
5-137802568-A-G c.430A>G p.N144D Missense 2/2 - 9
5-137802568-A-T c.430A>T p.N144Y Missense 2/2 - 4
5-137802567-CA-C c.431del p.N144Tfs*18 Frameshift 2/2 - 1
5-137802569-A-C c.431A>C p.N144T Missense 2/2 - 1
5-137802569-A-G c.431A>G p.N144S Missense 2/2 - 15
5-137802569-A-T c.431A>T p.N144I Missense 2/2 - 3
5-137802570-C-A c.432C>A p.N144K Missense 2/2 - 12
5-137802570-C-G c.432C>G p.N144K Missense 2/2 - 7
5-137802570-C-T c.432C>T p.N144= Synonymous 2/2 - 13
5-137802570-C-CA c.433dup p.S145Kfs*71 Frameshift 2/2 - 2
5-137802571-A-G c.433A>G p.S145G Missense 2/2 - 14
5-137802571-AG-CC c.433_434delinsCC p.S145P Missense 2/2 - 4
5-137802571-AG-CT c.433_434inv p.S145L Missense 2/2 - 6
5-137802571-AG-GA c.433_434delinsGA p.S145D Missense 2/2 - 1
5-137802571-AG-GC c.433_434delinsGC p.S145A Missense 2/2 - 7
5-137802571-AG-GT c.433_434delinsGT p.S145V Missense 2/2 - 1
5-137802571-AG-TT c.433_434delinsTT p.S145F Missense 2/2 - 5
5-137802571-AGT-TGA c.433_435delinsTGA p.S145* Nonsense 2/2 - 1
5-137802571-A-T c.433A>T p.S145C Missense 2/2 - 2
5-137802571-CA-C c.433del p.S145Vfs*17 Frameshift 2/2 - 1
5-137802572-G-A c.434G>A p.S145N Missense 2/2 - 11
5-137802572-G-C c.434G>C p.S145T Missense 2/2 - 6
5-137802572-G-T c.434G>T p.S145I Missense 2/2 - 5
5-137802571-A-C c.433A>C p.S145R Missense 2/2 - 7
5-137802572-G-GT c.435dup p.G146Wfs*70 Frameshift 2/2 - 1
5-137802573-T-A c.435T>A p.S145R Missense 2/2 - 8
5-137802573-T-C c.435T>C p.S145= Synonymous 2/2 - 13
5-137802573-T-G c.435T>G p.S145R Missense 2/2 - 8
5-137802574-G-A c.436G>A p.G146S Missense 2/2 - 23
5-137802574-G-C c.436G>C p.G146R Missense 2/2 - 17
5-137802574-GGC-TGA c.436_438delinsTGA p.G146* Nonsense 2/2 - 1
5-137802574-G-T c.436G>T p.G146C Missense 2/2 - 8
5-137802573-TG-T c.437del p.G146Afs*16 Frameshift 2/2 - 2
5-137802575-G-A c.437G>A p.G146D Missense 2/2 - 20
5-137802575-G-C c.437G>C p.G146A Missense 2/2 - 8
5-137802575-GC-AG c.437_438delinsAG p.G146E Missense 2/2 - 6
5-137802575-G-T c.437G>T p.G146V Missense 2/2 - 6
5-137802576-C-A c.438C>A p.G146= Synonymous 2/2 - 10
5-137802576-C-G c.438C>G p.G146= Synonymous 2/2 - 9
5-137802576-C-T c.438C>T p.G146= Synonymous 2/2 - 16
5-137802576-GCAAC-G c.438_441del p.N147Pfs*14 Frameshift 2/2 - 1
5-137802576-GC-G c.438del p.N147Tfs*15 Frameshift 2/2 - 3
5-137802577-A-C c.439A>C p.N147H Missense 2/2 - 6
5-137802577-A-G c.439A>G p.N147D Missense 2/2 - 18
5-137802577-A-T c.439A>T p.N147Y Missense 2/2 - 4
5-137802576-C-CA c.440dup p.N147Kfs*69 Frameshift 2/2 - 1
5-137802578-A-AGCTT c.440_441insGCTT p.N147Kfs*70 Frameshift 2/2 - 1
5-137802578-A-AT c.440_441insT p.T148Hfs*68 Frameshift 2/2 - 1
5-137802578-A-C c.440A>C p.N147T Missense 2/2 - 4
5-137802578-A-G c.440A>G p.N147S Missense 2/2 - 14
5-137802578-A-T c.440A>T p.N147I Missense 2/2 - 4
5-137802579-ACACCTTGTGGCCCGAGCCCCTCTTCAGCTTGGTCAGTGGCCTAGTGAGCATGACCAACC-A c.445_503del p.L149Gfs*47 MultiAAMissense 2/2 - 1
5-137802579-C-A c.441C>A p.N147K Missense 2/2 - 6
5-137802579-C-G c.441C>G p.N147K Missense 2/2 - 6
5-137802579-C-T c.441C>T p.N147= Synonymous 2/2 - 12
5-137802579-C-CATGTGGT c.442_443insTGTGGTA p.T148Mfs*70 Frameshift 2/2 - 1
5-137802580-A-C c.442A>C p.T148P Missense 2/2 - 7
5-137802580-AC-GT c.442_443inv p.T148V Missense 2/2 - 1
5-137802580-A-G c.442A>G p.T148A Missense 2/2 - 14
5-137802580-A-T c.442A>T p.T148S Missense 2/2 - 5
5-137802580-CA-C c.442del p.T148Pfs*14 Frameshift 2/2 - 1
5-137802581-ACCT-A c.443_445del p.T148_L149delinsM MultiAAMissense 2/2 - 1
5-137802581-C-A c.443C>A p.T148N Missense 2/2 - 3
5-137802581-CC-AG c.443_444delinsAG p.T148K Missense 2/2 - 1
5-137802581-CC-GG c.443_444inv p.T148R Missense 2/2 - 1
5-137802581-CC-TG c.443_444delinsTG p.T148M Missense 2/2 - 3
5-137802581-C-G c.443C>G p.T148S Missense 2/2 - 7
5-137802581-C-T c.443C>T p.T148I Missense 2/2 - 14
5-137802582-C-A c.444C>A p.T148= Synonymous 2/2 - 14
5-137802582-C-CG c.444_445insG p.L149Vfs*67 Frameshift 2/2 - 1
5-137802582-C-G c.444C>G p.T148= Synonymous 2/2 - 16
5-137802582-C-T c.444C>T p.T148= Synonymous 2/2 - 16
5-137802582-C-CTCTCTGGCGGCGGCAT c.445_446insCTCTGGCGGCGGCATT p.L149Sfs*72 Frameshift 2/2 - 1
5-137802583-CTT-C c.445_446del p.L149Vfs*66 Frameshift 2/2 - 1
5-137802583-T-A c.445T>A p.L149M Missense 2/2 - 4
5-137802583-T-C c.445T>C p.L149= Synonymous 2/2 - 10
5-137802583-T-G c.445T>G p.L149V Missense 2/2 - 6
5-137802583-TT-AG c.445_446delinsAG p.L149R Missense 2/2 - 5
5-137802583-TT-CC c.445_446delinsCC p.L149P Missense 2/2 - 5
5-137802583-TTG-ATC c.445_447delinsATC p.L149I Missense 2/2 - 4
5-137802583-TT-GC c.445_446delinsGC p.L149A Missense 2/2 - 1
5-137802585-G-A c.447G>A p.L149= Synonymous 2/2 - 12
5-137802582-C-CT c.446dup p.L149Ffs*67 Frameshift 2/2 - 1
5-137802584-T-A c.446T>A p.L149* Nonsense 2/2 - 3
5-137802584-T-C c.446T>C p.L149S Missense 2/2 - 10
5-137802584-T-G c.446T>G p.L149W Missense 2/2 - 2
5-137802585-G-C c.447G>C p.L149F Missense 2/2 - 10
5-137802585-G-T c.447G>T p.L149F Missense 2/2 - 10
5-137802586-T-A c.448T>A p.W150R Missense 2/2 - 4
5-137802586-T-C c.448T>C p.W150R Missense 2/2 - 9
5-137802586-T-G c.448T>G p.W150G Missense 2/2 - 4
5-137802586-TG-GC c.448_449delinsGC p.W150A Missense 2/2 - 1
5-137802587-G-A c.449G>A p.W150* Nonsense 2/2 - 16
5-137802587-G-C c.449G>C p.W150S Missense 2/2 - 5
5-137802587-G-T c.449G>T p.W150L Missense 2/2 - 4
5-137802588-G-A c.450G>A p.W150* Nonsense 2/2 - 12
5-137802588-G-C c.450G>C p.W150C Missense 2/2 - 6
5-137802588-G-T c.450G>T p.W150C Missense 2/2 - 9
5-137802589-C-A c.451C>A p.P151T Missense 2/2 - 10
5-137802589-CC-AA c.451_452delinsAA p.P151N Missense 2/2 - 1
5-137802589-CCC-AAG c.451_453delinsAAG p.P151K Missense 2/2 - 1
5-137802589-CC-GT c.451_452delinsGT p.P151V Missense 2/2 - 1
5-137802589-CC-TA c.451_452delinsTA p.P151Y Missense 2/2 - 1
5-137802589-CC-TT c.451_452delinsTT p.P151F Missense 2/2 - 1
5-137802589-C-G c.451C>G p.P151A Missense 2/2 - 8
5-137802589-C-T c.451C>T p.P151S Missense 2/2 - 26
5-137802590-C-A c.452C>A p.P151H Missense 2/2 - 8
5-137802590-CC-AA c.452_453delinsAA p.P151Q Missense 2/2 - 2
5-137802590-C-G c.452C>G p.P151R Missense 2/2 - 10
5-137802590-C-T c.452C>T p.P151L Missense 2/2 - 17
5-137802588-GC-G c.453del p.E152Sfs*10 Frameshift 2/2 - 1
5-137802591-C-A c.453C>A p.P151= Synonymous 2/2 - 16
5-137802591-C-G c.453C>G p.P151= Synonymous 2/2 - 12
5-137802591-C-T c.453C>T p.P151= Synonymous 2/2 - 20
5-137802592-G-A c.454G>A p.E152K Missense 2/2 - 19
5-137802592-GA-AG c.454_455delinsAG p.E152R Missense 2/2 - 1
5-137802592-GA-TC c.454_455inv p.E152S Missense 2/2 - 3
5-137802592-G-C c.454G>C p.E152Q Missense 2/2 - 5
5-137802592-G-GGCA c.454_455insGCA p.E152delinsGK MultiAAMissense 2/2 - 1
5-137802592-G-T c.454G>T p.E152* Nonsense 2/2 - 5
5-137802593-A-C c.455A>C p.E152A Missense 2/2 - 5
5-137802593-A-G c.455A>G p.E152G Missense 2/2 - 13
5-137802593-A-T c.455A>T p.E152V Missense 2/2 - 3
5-137802594-G-A c.456G>A p.E152= Synonymous 2/2 - 11
5-137802594-G-C c.456G>C p.E152D Missense 2/2 - 4
5-137802594-G-T c.456G>T p.E152D Missense 2/2 - 7
5-137802594-G-GCTGCCCGCC c.457_458insTGCCCGCCC p.E152_P153insLPA InFrameInsertion 2/2 - 1
5-137802595-C-A c.457C>A p.P153T Missense 2/2 - 8
5-137802595-CC-AA c.457_458delinsAA p.P153N Missense 2/2 - 1
5-137802595-CC-AT c.457_458delinsAT p.P153I Missense 2/2 - 1
5-137802595-CCC-TGG c.457_459delinsTGG p.P153W Missense 2/2 - 1
5-137802595-CC-GA c.457_458delinsGA p.P153D Missense 2/2 - 1
5-137802595-CC-GG c.457_458inv p.P153G Missense 2/2 - 1
5-137802595-CC-GT c.457_458delinsGT p.P153V Missense 2/2 - 1
5-137802595-CC-TA c.457_458delinsTA p.P153Y Missense 2/2 - 1
5-137802595-CC-TG c.457_458delinsTG p.P153C Missense 2/2 - 1
5-137802595-CC-TT c.457_458delinsTT p.P153F Missense 2/2 - 1
5-137802595-C-G c.457C>G p.P153A Missense 2/2 - 7
5-137802595-C-T c.457C>T p.P153S Missense 2/2 - 17
5-137802593-A-AGCCAAGG c.458_459insAAGGGCC p.L154Rfs*64 Frameshift 2/2 - 1
5-137802594-GCCC-G c.458_460del p.P153del InFrameDeletion 2/2 - 1
5-137802596-C-A c.458C>A p.P153H Missense 2/2 - 4
5-137802596-C-CA c.458_459insA p.L154Pfs*62 Frameshift 2/2 - 1
5-137802596-CC-AA c.458_459delinsAA p.P153Q Missense 2/2 - 4
5-137802596-C-G c.458C>G p.P153R Missense 2/2 - 4
5-137802596-C-T c.458C>T p.P153L Missense 2/2 - 24
5-137802594-GCCCCTCTTCAGCTTGGTCAGTGGCCTAGTGAGCATGACCAACCCA-G c.459_503del p.L154_P168del InFrameDeletion 2/2 - 1
5-137802597-C-A c.459C>A p.P153= Synonymous 2/2 - 8
5-137802597-C-G c.459C>G p.P153= Synonymous 2/2 - 9
5-137802597-C-T c.459C>T p.P153= Synonymous 2/2 - 15
5-137802594-GC-G c.460del p.L154Sfs*8 Frameshift 2/2 - 1
5-137802598-C-A c.460C>A p.L154I Missense 2/2 - 6
5-137802598-C-G c.460C>G p.L154V Missense 2/2 - 4
5-137802598-C-T c.460C>T p.L154F Missense 2/2 - 18
5-137802598-CT-AG c.460_461inv p.L154S Missense 2/2 - 1
5-137802598-CTC-ATG c.460_462delinsATG p.L154M Missense 2/2 - 4
5-137802599-CT-C c.461del p.L154Pfs*8 Frameshift 2/2 - 1
5-137802599-T-A c.461T>A p.L154H Missense 2/2 - 2
5-137802599-T-C c.461T>C p.L154P Missense 2/2 - 6
5-137802599-TC-AA c.461_462delinsAA p.L154Q Missense 2/2 - 1
5-137802599-T-G c.461T>G p.L154R Missense 2/2 - 4
5-137802599-T-TCC c.462_463insCC p.F155Pfs*8 Frameshift 2/2 - 1
5-137802600-C-A c.462C>A p.L154= Synonymous 2/2 - 12
5-137802600-C-G c.462C>G p.L154= Synonymous 2/2 - 9
5-137802600-C-T c.462C>T p.L154= Synonymous 2/2 - 11
5-137802598-CTCT-C c.463_465del p.F155del InFrameDeletion 2/2 - 1
5-137802601-T-A c.463T>A p.F155I Missense 2/2 - 4
5-137802601-T-C c.463T>C p.F155L Missense 2/2 - 9
5-137802601-T-G c.463T>G p.F155V Missense 2/2 - 4
5-137802603-C-G c.465C>G p.F155L Missense 2/2 - 6
5-137802600-C-CT c.464dup p.S156Qfs*60 Frameshift 2/2 - 1
5-137802602-T-A c.464T>A p.F155Y Missense 2/2 - 5
5-137802602-T-C c.464T>C p.F155S Missense 2/2 - 14
5-137802602-T-G c.464T>G p.F155C Missense 2/2 - 1
5-137802603-C-A c.465C>A p.F155L Missense 2/2 - 9
5-137802603-C-T c.465C>T p.F155= Synonymous 2/2 - 15
5-137802602-TCAG-T c.466_468del p.S156del InFrameDeletion 2/2 - 1
5-137802603-C-CA c.466dup p.S156Kfs*60 Frameshift 2/2 - 1
5-137802604-A-C c.466A>C p.S156R Missense 2/2 - 5
5-137802604-A-G c.466A>G p.S156G Missense 2/2 - 4
5-137802604-AG-CC c.466_467delinsCC p.S156P Missense 2/2 - 2
5-137802604-AG-CT c.466_467inv p.S156L Missense 2/2 - 4
5-137802604-AG-GC c.466_467delinsGC p.S156A Missense 2/2 - 2
5-137802604-AG-TA c.466_467delinsTA p.S156Y Missense 2/2 - 2
5-137802604-AG-TT c.466_467delinsTT p.S156F Missense 2/2 - 5
5-137802604-A-T c.466A>T p.S156C Missense 2/2 - 6
5-137802605-G-A c.467G>A p.S156N Missense 2/2 - 14
5-137802605-G-C c.467G>C p.S156T Missense 2/2 - 3
5-137802605-G-T c.467G>T p.S156I Missense 2/2 - 2
5-137802605-G-GCGCC c.468_469insGCCC p.L157Afs*60 Frameshift 2/2 - 1
5-137802606-C-A c.468C>A p.S156R Missense 2/2 - 5
5-137802606-C-G c.468C>G p.S156R Missense 2/2 - 7
5-137802606-C-T c.468C>T p.S156= Synonymous 2/2 - 12
5-137802607-T-A c.469T>A p.L157M Missense 2/2 - 3
5-137802607-T-C c.469T>C p.L157= Synonymous 2/2 - 13
5-137802607-T-G c.469T>G p.L157V Missense 2/2 - 4
5-137802607-TT-CA c.469_470delinsCA p.L157Q Missense 2/2 - 1
5-137802607-TT-CC c.469_470delinsCC p.L157P Missense 2/2 - 3
5-137802607-TT-GG c.469_470delinsGG p.L157G Missense 2/2 - 1
5-137802606-C-CTTAT c.470_471insATTT p.V158Ffs*59 Frameshift 2/2 - 1
5-137802608-T-A c.470T>A p.L157* Nonsense 2/2 - 2
5-137802608-T-C c.470T>C p.L157S Missense 2/2 - 5
5-137802608-T-TC c.470_471insC p.L157Ffs*59 Frameshift 2/2 - 1
5-137802609-G-A c.471G>A p.L157= Synonymous 2/2 - 19
5-137802609-G-C c.471G>C p.L157F Missense 2/2 - 9
5-137802609-G-T c.471G>T p.L157F Missense 2/2 - 7
5-137802608-TG-T c.472del p.V158Sfs*4 Frameshift 2/2 - 1
5-137802610-G-A c.472G>A p.V158I Missense 2/2 - 20
5-137802610-G-C c.472G>C p.V158L Missense 2/2 - 6
5-137802610-G-T c.472G>T p.V158F Missense 2/2 - 12
5-137802610-GT-AA c.472_473delinsAA p.V158N Missense 2/2 - 1
5-137802610-GTC-ATG c.472_474delinsATG p.V158M Missense 2/2 - 20
5-137802610-G-GT c.473dup p.S159Qfs*57 Frameshift 2/2 - 1
5-137802611-T-A c.473T>A p.V158D Missense 2/2 - 6
5-137802611-T-C c.473T>C p.V158A Missense 2/2 - 8
5-137802611-T-G c.473T>G p.V158G Missense 2/2 - 5
5-137802612-C-A c.474C>A p.V158= Synonymous 2/2 - 10
5-137802612-C-CT c.474_475insT p.S159* Nonsense 2/2 - 2
5-137802612-C-G c.474C>G p.V158= Synonymous 2/2 - 10
5-137802612-C-T c.474C>T p.V158= Synonymous 2/2 - 16
5-137802612-TC-T c.474del p.S159Vfs*3 Frameshift 2/2 - 1
5-137802613-A-AAGGC c.475_476insAGGC p.S159Kfs*58 Frameshift 2/2 - 1
5-137802613-A-AATT c.475_476insATT p.S159delinsNC MultiAAMissense 2/2 - 1
5-137802613-A-G c.475A>G p.S159G Missense 2/2 - 9
5-137802613-AG-CC c.475_476delinsCC p.S159P Missense 2/2 - 2
5-137802613-AG-CT c.475_476inv p.S159L Missense 2/2 - 7
5-137802613-AG-GC c.475_476delinsGC p.S159A Missense 2/2 - 5
5-137802613-AGT-GAG c.475_477delinsGAG p.S159E Missense 2/2 - 1
5-137802613-AG-TT c.475_476delinsTT p.S159F Missense 2/2 - 5
5-137802613-AGT-TGA c.475_477delinsTGA p.S159* Nonsense 2/2 - 2
5-137802614-G-A c.476G>A p.S159N Missense 2/2 - 13
5-137802614-G-C c.476G>C p.S159T Missense 2/2 - 7
5-137802614-G-T c.476G>T p.S159I Missense 2/2 - 9
5-137802613-A-C c.475A>C p.S159R Missense 2/2 - 8
5-137802615-GTGGCCTAGTGAGCATGACCA-G c.477_496del p.S159Rfs*50 Frameshift 2/2 - 1
5-137802615-T-A c.477T>A p.S159R Missense 2/2 - 7
5-137802615-T-C c.477T>C p.S159= Synonymous 2/2 - 12
5-137802615-T-G c.477T>G p.S159R Missense 2/2 - 8
5-137802616-G-A c.478G>A p.G160S Missense 2/2 - 19
5-137802616-G-C c.478G>C p.G160R Missense 2/2 - 11
5-137802616-GG-AC c.478_479delinsAC p.G160T Missense 2/2 - 1
5-137802616-GG-CC c.478_479inv p.G160P Missense 2/2 - 1
5-137802616-GGC-TGA c.478_480delinsTGA p.G160* Nonsense 2/2 - 1
5-137802616-G-T c.478G>T p.G160C Missense 2/2 - 6
5-137802615-T-TG c.479dup p.L161Pfs*55 Frameshift 2/2 - 1
5-137802617-G-A c.479G>A p.G160D Missense 2/2 - 9
5-137802617-G-C c.479G>C p.G160A Missense 2/2 - 8
5-137802617-GC-AG c.479_480delinsAG p.G160E Missense 2/2 - 5
5-137802617-G-T c.479G>T p.G160V Missense 2/2 - 6
5-137802618-C-A c.480C>A p.G160= Synonymous 2/2 - 8
5-137802618-C-CAAAGATGATGAAGATGAT c.480_481insAAAGATGATGAAGATGAT p.G160_L161insKDDEDD InFrameInsertion 2/2 - 1
5-137802618-C-G c.480C>G p.G160= Synonymous 2/2 - 13
5-137802618-C-T c.480C>T p.G160= Synonymous 2/2 - 15
5-137802617-GC-G c.481del p.L161* Frameshift 2/2 - 1
5-137802617-G-GC c.481dup p.L161Pfs*55 Frameshift 2/2 - 1
5-137802619-C-A c.481C>A p.L161I Missense 2/2 - 6
5-137802619-C-G c.481C>G p.L161V Missense 2/2 - 1
5-137802619-C-T c.481C>T p.L161= Synonymous 2/2 - 19
5-137802619-CTA-AAC c.481_483delinsAAC p.L161N Missense 2/2 - 1
5-137802619-CTA-ATG c.481_483delinsATG p.L161M Missense 2/2 - 1
5-137802619-CT-AC c.481_482delinsAC p.L161T Missense 2/2 - 1
5-137802619-CTA-TAT c.481_483delinsTAT p.L161Y Missense 2/2 - 1
5-137802619-CTA-TGT c.481_483delinsTGT p.L161C Missense 2/2 - 1
5-137802619-CTA-TTT c.481_483delinsTTT p.L161F Missense 2/2 - 1
5-137802619-CT-GA c.481_482delinsGA p.L161E Missense 2/2 - 1
5-137802619-CT-GC c.481_482delinsGC p.L161A Missense 2/2 - 1
5-137802616-G-GGCCTGC c.482_483insGCGCCT p.L161_V162insRL InFrameInsertion 2/2 - 1
5-137802620-T-A c.482T>A p.L161Q Missense 2/2 - 2
5-137802620-TA-AT c.482_483delinsAT p.L161H Missense 2/2 - 1
5-137802620-T-C c.482T>C p.L161P Missense 2/2 - 13
5-137802620-T-G c.482T>G p.L161R Missense 2/2 - 1
5-137802620-T-TA c.483dup p.V162Sfs*54 Frameshift 2/2 - 1
5-137802621-A-ATGATTTCAT c.483_484insTGATTTCAT p.L161_V162ins* Nonsense 2/2 - 1
5-137802621-A-C c.483A>C p.L161= Synonymous 2/2 - 12
5-137802621-A-G c.483A>G p.L161= Synonymous 2/2 - 15
5-137802621-A-T c.483A>T p.L161= Synonymous 2/2 - 14
5-137802621-A-AGATGG c.484_485insATGGG p.V162Dfs*3 Frameshift 2/2 - 1
5-137802622-AGTG-A c.484_486del p.V162del InFrameDeletion 2/2 - 1
5-137802622-G-A c.484G>A p.V162M Missense 2/2 - 20
5-137802622-G-C c.484G>C p.V162L Missense 2/2 - 9
5-137802622-G-T c.484G>T p.V162L Missense 2/2 - 7
5-137802622-GTG-ATC c.484_486delinsATC p.V162I Missense 2/2 - 3
5-137802622-GTG-TTT c.484_486delinsTTT p.V162F Missense 2/2 - 2
5-137802623-T-A c.485T>A p.V162E Missense 2/2 - 5
5-137802623-T-C c.485T>C p.V162A Missense 2/2 - 17
5-137802623-T-G c.485T>G p.V162G Missense 2/2 - 7
5-137802624-G-A c.486G>A p.V162= Synonymous 2/2 - 13
5-137802624-G-C c.486G>C p.V162= Synonymous 2/2 - 12
5-137802624-G-GT c.486_487insT p.S163* Nonsense 2/2 - 1
5-137802624-G-T c.486G>T p.V162= Synonymous 2/2 - 14
5-137802624-TG-T c.486del p.S163Afs*2 Frameshift 2/2 - 1
5-137802625-A-G c.487A>G p.S163G Missense 2/2 - 5
5-137802625-AG-CC c.487_488delinsCC p.S163P Missense 2/2 - 6
5-137802625-AG-CT c.487_488inv p.S163L Missense 2/2 - 6
5-137802625-AGC-TGA c.487_489delinsTGA p.S163* Nonsense 2/2 - 2
5-137802625-AG-GC c.487_488delinsGC p.S163A Missense 2/2 - 5
5-137802625-AG-GT c.487_488delinsGT p.S163V Missense 2/2 - 1
5-137802625-AG-TT c.487_488delinsTT p.S163F Missense 2/2 - 2
5-137802625-A-T c.487A>T p.S163C Missense 2/2 - 3
5-137802626-G-A c.488G>A p.S163N Missense 2/2 - 17
5-137802626-G-C c.488G>C p.S163T Missense 2/2 - 5
5-137802626-G-T c.488G>T p.S163I Missense 2/2 - 6
5-137802625-A-C c.487A>C p.S163R Missense 2/2 - 4
5-137802625-AGCAT-A c.489_492del p.S163Rfs*27 Frameshift 2/2 - 1
5-137802627-C-A c.489C>A p.S163R Missense 2/2 - 6
5-137802627-C-G c.489C>G p.S163R Missense 2/2 - 7
5-137802627-C-T c.489C>T p.S163= Synonymous 2/2 - 20
5-137802628-A-C c.490A>C p.M164L Missense 2/2 - 2
5-137802628-A-G c.490A>G p.M164V Missense 2/2 - 17
5-137802628-A-T c.490A>T p.M164L Missense 2/2 - 4
5-137802628-AT-GC c.490_491delinsGC p.M164A Missense 2/2 - 2
5-137802628-AT-GG c.490_491delinsGG p.M164G Missense 2/2 - 2