GC

GC GC vitamin D binding protein

Annotation transcript: NM_000583.4

11390 unique variant annotations were identified in 6693 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
4-72607678-T-G c.*26-91A>C - intron_variant - 12/12 13
4-72608115-C-T c.*26-528G>A - intron_variant - 12/12 24
4-72608332-CCCAGAGGGACTACTACTTGCTTCCAAAGCTAACAATAA-C c.*26-782_*26-745del - IntronicDeletion - 12/12 1
4-72608364-C-G c.*26-777G>C - intron_variant - 12/12 2
4-72608364-C-T c.*26-777G>A - intron_variant - 12/12 2
4-72608383-T-G c.*26-796A>C - intron_variant - 12/12 280
4-72609094-A-C c.*26-1507T>G - intron_variant - 12/12 1
4-72609398-C-A c.*26-1811G>T - intron_variant - 12/12 65
4-72609398-C-T c.*26-1811G>A - intron_variant - 12/12 65
4-72610208-C-A c.*25+1660G>T - IntronicSNV - 12/12 4
4-72611104-TTA-T c.*25+762_*25+763del - IntronicDeletion - 12/12 1
4-72611215-A-G c.*25+653T>C - IntronicSNV - 12/12 2
4-72611690-G-A c.*25+178C>T - IntronicSNV - 12/12 11
4-72611690-G-C c.*25+178C>G - IntronicSNV - 12/12 11
4-72611690-G-T c.*25+178C>A - IntronicSNV - 12/12 11
4-72611699-G-A c.*25+169C>T - IntronicSNV - 12/12 1
4-72611699-G-T c.*25+169C>A - IntronicSNV - 12/12 1
4-72611763-A-G c.*130T>C - IntronicSNV 13/13 - 1
4-72611892-A-AC c.1425dup - CdsStopInsertion 12/13 - 1
4-72611891-GACT-G c.1424_*1del - CdsStopDeletion 12/13 - 1
4-72611894-CT-C c.1424del p.*475Cfs*21 CdsStopDeletion 12/13 - 1
4-72611894-T-C c.1424A>G p.*475Wext*2 Missense 12/13 - 3
4-72611895-A-C c.1423T>G p.*475Eext*2 Missense 12/13 - 1
4-72611895-A-G c.1423T>C p.*475Qext*2 Missense 12/13 - 2
4-72611895-A-T c.1423T>A p.*475Kext*2 Missense 12/13 - 2
4-72611895-TA-T c.1423del p.*475Sfs*21 CdsStopDeletion 12/13 - 1
4-72611896-C-A c.1422G>T p.L474= Synonymous 12/13 - 1
4-72611896-C-G c.1422G>C p.L474= Synonymous 12/13 - 1
4-72611896-C-T c.1422G>A p.L474= Synonymous 12/13 - 5
4-72611897-A-C c.1421T>G p.L474R Missense 12/13 - 1
4-72611897-A-G c.1421T>C p.L474P Missense 12/13 - 4
4-72611897-A-T c.1421T>A p.L474Q Missense 12/13 - 1
4-72611897-CA-C c.1421del p.L474Rfs*22 Frameshift 12/13 - 1
4-72611895-ACAGGATATTCTT-A c.1411_1422del p.K471_L474del InFrameDeletion 12/13 - 1
4-72611898-G-A c.1420C>T p.L474= Synonymous 12/13 - 5
4-72611898-G-C c.1420C>G p.L474V Missense 12/13 - 2
4-72611898-G-T c.1420C>A p.L474M Missense 12/13 - 2
4-72611897-A-AG c.1420dup p.L474Pfs*9 Frameshift 12/13 - 1
4-72611897-AG-A c.1420del p.L474Cfs*22 Frameshift 12/13 - 1
4-72611899-G-A c.1419C>T p.I473= Synonymous 12/13 - 11
4-72611899-GA-CT c.1418_1419delinsAG p.I473K Missense 12/13 - 1
4-72611899-GAT-TTA c.1417_1419delinsTAA p.I473* Nonsense 12/13 - 2
4-72611899-G-C c.1419C>G p.I473M Missense 12/13 - 1
4-72611899-G-T c.1419C>A p.I473= Synonymous 12/13 - 5
4-72611900-A-C c.1418T>G p.I473S Missense 12/13 - 1
4-72611900-A-G c.1418T>C p.I473T Missense 12/13 - 3
4-72611900-AT-GC c.1417_1418delinsGC p.I473A Missense 12/13 - 2
4-72611900-GA-G c.1418del p.I473Tfs*23 Frameshift 12/13 - 1
4-72611900-A-AT c.1417dup p.I473Nfs*10 Frameshift 12/13 - 1
4-72611901-AT-A c.1417del p.I473Sfs*23 Frameshift 12/13 - 1
4-72611901-T-A c.1417A>T p.I473F Missense 12/13 - 2
4-72611901-T-C c.1417A>G p.I473V Missense 12/13 - 4
4-72611901-T-G c.1417A>C p.I473L Missense 12/13 - 2
4-72611899-GAT-G c.1417_1418del p.I473Pfs*9 Frameshift 12/13 - 1
4-72611901-T-TA c.1416dup p.I473Yfs*10 Frameshift 12/13 - 1
4-72611902-A-AGC c.1415_1416insGC p.N472Kfs*25 Frameshift 12/13 - 1
4-72611902-A-C c.1416T>G p.N472K Missense 12/13 - 3
4-72611902-A-G c.1416T>C p.N472= Synonymous 12/13 - 6
4-72611902-A-T c.1416T>A p.N472K Missense 12/13 - 2
4-72611903-T-A c.1415A>T p.N472I Missense 12/13 - 1
4-72611903-T-C c.1415A>G p.N472S Missense 12/13 - 8
4-72611903-T-G c.1415A>C p.N472T Missense 12/13 - 1
4-72611900-A-ATATTTTT c.1417_1418insAAAAATA p.I473Kfs*12 Frameshift 12/13 - 1
4-72611902-A-AT c.1415dup p.N472Kfs*11 Frameshift 12/13 - 1
4-72611902-AT-A c.1415del p.N472Ifs*24 Frameshift 12/13 - 2
4-72611902-ATTCT-A c.1412_1415del p.K471Ifs*24 Frameshift 12/13 - 1
4-72611904-T-A c.1414A>T p.N472Y Missense 12/13 - 2
4-72611904-T-C c.1414A>G p.N472D Missense 12/13 - 6
4-72611904-T-G c.1414A>C p.N472H Missense 12/13 - 2
4-72611904-T-TA c.1413_1414insT p.N472* Nonsense 12/13 - 2
4-72611904-T-TAAAATATTA c.1413_1414insTAATATTTT p.K471_N472ins* Nonsense 12/13 - 1
4-72611904-T-TC c.1413dup p.N472Efs*11 Frameshift 12/13 - 1
4-72611905-C-A c.1413G>T p.K471N Missense 12/13 - 3
4-72611905-C-G c.1413G>C p.K471N Missense 12/13 - 1
4-72611905-C-T c.1413G>A p.K471= Synonymous 12/13 - 5
4-72611905-TC-T c.1413del p.N472Ifs*24 Frameshift 12/13 - 1
4-72611906-T-A c.1412A>T p.K471M Missense 12/13 - 1
4-72611906-T-C c.1412A>G p.K471R Missense 12/13 - 6
4-72611906-T-G c.1412A>C p.K471T Missense 12/13 - 1
4-72611906-T-TGCTG c.1411_1412insCAGC p.K471Tfs*13 Frameshift 12/13 - 1
4-72611905-CT-C c.1412del p.K471Rfs*25 Frameshift 12/13 - 1
4-72611907-T-C c.1411A>G p.K471E Missense 12/13 - 5
4-72611906-T-TTCC c.1411_1412insGGA p.L470_K471insR InFrameInsertion 12/13 - 1
4-72611907-T-TC c.1410dup p.K471Efs*12 Frameshift 12/13 - 1
4-72611907-T-TCC c.1410_1411insGG p.K471Gfs*26 Frameshift 12/13 - 1
4-72611907-T-TCCAGTGTGCTCCCTACCACTGGAAGCTGG c.1410_1411insCCAGCTTCCAGTGGTAGGGAGCACACTGG p.K471Pfs*35 Frameshift 12/13 - 1
4-72611908-C-A c.1410G>T p.L470F Missense 12/13 - 3
4-72611908-CAA-ATG c.1408_1410delinsCAT p.L470H Missense 12/13 - 1
4-72611908-CAA-GAT c.1408_1410delinsATC p.L470I Missense 12/13 - 1
4-72611908-C-G c.1410G>C p.L470F Missense 12/13 - 6
4-72611908-C-T c.1410G>A p.L470= Synonymous 12/13 - 11
4-72611909-AA-CT c.1408_1409delinsAG p.L470R Missense 12/13 - 1
4-72611909-AA-GC c.1408_1409delinsGC p.L470A Missense 12/13 - 1
4-72611909-AA-GG c.1408_1409delinsCC p.L470P Missense 12/13 - 3
4-72611909-AA-TG c.1408_1409delinsCA p.L470Q Missense 12/13 - 1
4-72611909-AA-TT c.1408_1409inv p.L470K Missense 12/13 - 1
4-72611909-A-C c.1409T>G p.L470W Missense 12/13 - 1
4-72611909-A-G c.1409T>C p.L470S Missense 12/13 - 2
4-72611909-A-T c.1409T>A p.L470* Nonsense 12/13 - 2
4-72611908-CA-C c.1409del p.L470* Frameshift 12/13 - 1
4-72611908-C-CA c.1409dup p.L470Ffs*13 Frameshift 12/13 - 1
4-72611910-A-C c.1408T>G p.L470V Missense 12/13 - 2
4-72611910-A-G c.1408T>C p.L470= Synonymous 12/13 - 9
4-72611910-A-T c.1408T>A p.L470M Missense 12/13 - 2
4-72611910-A-ATC c.1407_1408insGA p.L470Dfs*2 Frameshift 12/13 - 1
4-72611910-A-ATGC c.1407_1408insGCA p.E469_L470insA InFrameInsertion 12/13 - 1
4-72611911-T-A c.1407A>T p.E469D Missense 12/13 - 5
4-72611911-T-C c.1407A>G p.E469= Synonymous 12/13 - 8
4-72611911-T-G c.1407A>C p.E469D Missense 12/13 - 3
4-72611911-T-TC c.1406_1407insG p.L470Ifs*13 Frameshift 12/13 - 1
4-72611910-AT-A c.1407del p.E469Dfs*2 Frameshift 12/13 - 1
4-72611911-T-TTGC c.1406_1407insGCA p.E469_L470insQ InFrameInsertion 12/13 - 1
4-72611912-T-A c.1406A>T p.E469V Missense 12/13 - 1
4-72611912-T-C c.1406A>G p.E469G Missense 12/13 - 4
4-72611912-T-G c.1406A>C p.E469A Missense 12/13 - 4
4-72611912-T-TA c.1405_1406insT p.E469Vfs*14 Frameshift 12/13 - 1
4-72611912-TTCAG-T c.1403_1406del p.A468Dfs*2 Frameshift 12/13 - 1
4-72611913-C-A c.1405G>T p.E469* Nonsense 12/13 - 4
4-72611913-C-G c.1405G>C p.E469Q Missense 12/13 - 1
4-72611913-C-T c.1405G>A p.E469K Missense 12/13 - 15
4-72611913-TC-T c.1405del p.E469Nfs*2 Frameshift 12/13 - 1
4-72611913-C-CA c.1404dup p.E469* Nonsense 12/13 - 1
4-72611914-A-C c.1404T>G p.A468= Synonymous 12/13 - 4
4-72611914-A-G c.1404T>C p.A468= Synonymous 12/13 - 10
4-72611914-A-T c.1404T>A p.A468= Synonymous 12/13 - 6
4-72611914-CA-C c.1404del p.E469Nfs*2 Frameshift 12/13 - 1
4-72611914-A-AG c.1403dup p.E469* Nonsense 12/13 - 2
4-72611915-AGC-A c.1402_1403del p.A468* Frameshift 12/13 - 1
4-72611915-G-A c.1403C>T p.A468V Missense 12/13 - 10
4-72611915-G-C c.1403C>G p.A468G Missense 12/13 - 1
4-72611915-GC-AG c.1402_1403delinsCT p.A468L Missense 12/13 - 1
4-72611915-GC-CA c.1402_1403delinsTG p.A468C Missense 12/13 - 1
4-72611915-G-T c.1403C>A p.A468D Missense 12/13 - 2
4-72611915-G-GC c.1402dup p.A468Gfs*2 Frameshift 12/13 - 1
4-72611916-C-A c.1402G>T p.A468S Missense 12/13 - 4
4-72611916-C-CT c.1401_1402insA p.A468Sfs*2 Frameshift 12/13 - 1
4-72611916-C-G c.1402G>C p.A468P Missense 12/13 - 2
4-72611916-C-T c.1402G>A p.A468T Missense 12/13 - 9
4-72611916-GC-G c.1402del p.A468Lfs*3 Frameshift 12/13 - 1
4-72611917-A-C c.1401T>G p.D467E Missense 12/13 - 3
4-72611917-A-G c.1401T>C p.D467= Synonymous 12/13 - 6
4-72611917-A-T c.1401T>A p.D467E Missense 12/13 - 2
4-72611917-CA-C c.1401del p.D467Efs*4 Frameshift 12/13 - 1
4-72611917-A-AT c.1400dup p.D467Efs*3 Frameshift 12/13 - 1
4-72611918-ATCAATCTGATAATGAAAAAAGAATGTTATATAACTTATGAAGTATTTCATTTGTAGGCT-A c.1396-54_1400del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 12/13 11/12 1
4-72611918-T-A c.1400A>T p.D467V Missense 12/13 - 4
4-72611918-T-C c.1400A>G p.D467G Missense 12/13 - 3
4-72611918-TC-CT c.1399_1400delinsAG p.D467S Missense 12/13 - 1
4-72611918-T-G c.1400A>C p.D467A Missense 12/13 - 4
4-72611919-C-A c.1399G>T p.D467Y Missense 12/13 - 7
4-72611919-C-G c.1399G>C p.D467H Missense 12/13 - 2
4-72611919-C-T c.1399G>A p.D467N Missense 12/13 - 9
4-72611919-TC-T c.1399del p.D467Mfs*4 Frameshift 12/13 - 3
4-72611920-AA-CC c.1397_1398delinsGG p.I466R Missense 12/13 - 1
4-72611920-AA-CT c.1397_1398delinsAG p.I466K Missense 12/13 - 1
4-72611920-AAT-TTA c.1396_1398delinsTAA p.I466* Nonsense 12/13 - 1
4-72611920-A-C c.1398T>G p.I466M Missense 12/13 - 4
4-72611920-A-G c.1398T>C p.I466= Synonymous 12/13 - 7
4-72611920-A-T c.1398T>A p.I466= Synonymous 12/13 - 2
4-72611919-CA-C c.1398del p.I466Mfs*5 Frameshift 12/13 - 1
4-72611919-C-CA c.1398dup p.D467* SpliceAcceptorInsertion 12/13 - 2
4-72611921-A-AC c.1396_1397insG p.I466Sfs*2 SpliceAcceptorInsertion 12/13 - 2
4-72611921-AATCTGATAATGAAAAAAGAATGTTATATAACTTATGAAGTATTTCATTTGTAGGCTACT-A c.1396-57_1397del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 12/13 11/12 1
4-72611921-A-C c.1397T>G p.I466S Missense 12/13 - 2
4-72611921-A-G c.1397T>C p.I466T Missense 12/13 - 5
4-72611921-A-T c.1397T>A p.I466N Missense 12/13 - 1
4-72611921-A-AT c.1396dup p.I466Nfs*2 SpliceAcceptorInsertion - - 1
4-72611922-T-A c.1396A>T p.I466F Missense 12/13 - 1
4-72611922-T-C c.1396A>G p.I466V Missense 12/13 - 7
4-72611922-TCTGATAATGAAAAAAGAATGTTATATAACTTATGAAGTATTTCATTTGTAGGCTACT-A c.1396-57_1396delinsT - Multi:SpliceDonorBlockSubstitution,SpliceAcceptorBlockSubstitution 12/13 11/12 1
4-72611922-T-G c.1396A>C p.I466L Missense 12/13 - 1
4-72612616-G-A c.1396-694C>T - IntronicSNV - 11/12 3
4-72612687-C-A c.1396-765G>T - IntronicSNV - 11/12 5
4-72612687-C-G c.1396-765G>C - IntronicSNV - 11/12 5
4-72612911-T-A c.1396-989A>T - IntronicSNV - 11/12 1
4-72612911-T-C c.1396-989A>G - IntronicSNV - 11/12 1
4-72613036-A-C c.1396-1114T>G - IntronicSNV - 11/12 5
4-72613036-A-G c.1396-1114T>C - IntronicSNV - 11/12 5
4-72613566-G-A c.1396-1644C>T - IntronicSNV - 11/12 5
4-72614140-A-C c.1396-2218T>G - IntronicSNV - 11/12 9
4-72614267-G-C c.1396-2345C>G - IntronicSNV - 11/12 36
4-72615362-A-G c.1395+2873T>C - IntronicSNV - 11/12 9
4-72616327-C-A c.1395+1908G>T - IntronicSNV - 11/12 2
4-72616327-C-T c.1395+1908G>A - IntronicSNV - 11/12 2
4-72616932-G-A c.1395+1303C>T - IntronicSNV - 11/12 14
4-72617557-T-TA c.1395+677dup - IntronicInsertion - 11/12 1
4-72617577-TAA-T c.1395+657_1395+658del - IntronicDeletion - 11/12 1
4-72617709-TTA-T c.1395+524_1395+525del - IntronicDeletion - 11/12 1
4-72617775-A-G c.1395+460T>C - IntronicSNV - 11/12 8
4-72617839-C-T c.1395+396G>A - IntronicSNV - 11/12 1
4-72618152-T-C c.1395+83A>G - IntronicSNV - 11/12 1
4-72618233-A-C c.1395+2T>G - IntronicSNV - 11/12 2
4-72618233-TAC-T c.1395+1_1395+2del - SpliceDonorDeletion - 11/12 1
4-72618233-TA-T c.1395+2del - IntronicDeletion - 11/12 1
4-72618233-A-ACT c.1395+1_1395+2insAG - SpliceDonorInsertion - - 1
4-72618234-C-CA c.1395_1395+1insT p.I466Yfs*2 SpliceDonorInsertion - - 1
4-72618233-A-AC c.1395+1dup - SpliceDonorInsertion 11/13 - 1
4-72618235-C-A c.1395G>T p.E465D Missense 11/13 - 5
4-72618235-C-CA c.1394_1395insT p.E465Dfs*3 SpliceDonorInsertion 11/13 - 1
4-72618235-CCTCTGAATCACAGTAAAGAGGAGGTGA-C c.1369_1395del p.S457_E465del SpliceDonorDeletion 11/13 - 1
4-72618235-C-G c.1395G>C p.E465D Missense 11/13 - 6
4-72618235-C-T c.1395G>A p.E465= Synonymous 11/13 - 5
4-72618235-C-CTT c.1394_1395insAA p.I466Rfs*6 SpliceDonorInsertion 11/13 - 1
4-72618236-CT-C c.1394del p.E465Gfs*6 Frameshift 11/13 - 3
4-72618236-CTCTGAATCACAGTAAAGAGGAGGTGAGTTTATGGAA-C c.1359_1394del p.C453_E465delinsW SpliceDonorDeletion 11/13 - 1
4-72618236-T-A c.1394A>T p.E465V Missense 11/13 - 3
4-72618236-T-C c.1394A>G p.E465G Missense 11/13 - 6
4-72618236-TC-AG c.1393_1394delinsCT p.E465L Missense 11/13 - 1
4-72618236-TC-CA c.1393_1394delinsTG p.E465W Missense 11/13 - 1
4-72618236-TC-GA c.1393_1394inv p.E465S Missense 11/13 - 2
4-72618236-TC-GG c.1393_1394delinsCC p.E465P Missense 11/13 - 1
4-72618236-T-G c.1394A>C p.E465A Missense 11/13 - 1
4-72618234-CCT-C c.1394_1395del p.E465Dfs*2 SpliceDonorDeletion 11/13 - 1
4-72618236-T-TC c.1393dup p.E465Gfs*3 SpliceDonorInsertion 11/13 - 3
4-72618237-C-A c.1393G>T p.E465* Nonsense 11/13 - 4
4-72618237-C-CA c.1392_1393insT p.E465* Nonsense 11/13 - 3
4-72618237-C-G c.1393G>C p.E465Q Missense 11/13 - 2
4-72618237-C-T c.1393G>A p.E465K Missense 11/13 - 10
4-72618237-TC-T c.1393del p.E465Rfs*6 Frameshift 11/13 - 1
4-72618237-C-CT c.1392dup p.E465Rfs*3 Frameshift 11/13 - 1
4-72618238-CTGA-C c.1390_1392del p.S464del InFrameDeletion 11/13 - 2
4-72618238-T-A c.1392A>T p.S464= Synonymous 11/13 - 1
4-72618238-T-C c.1392A>G p.S464= Synonymous 11/13 - 8
4-72618238-T-G c.1392A>C p.S464= Synonymous 11/13 - 6
4-72618238-TG-AA c.1391_1392delinsTT p.S464F Missense 11/13 - 8
4-72618238-TGA-GTC c.1390_1392delinsGAC p.S464D Missense 11/13 - 1
4-72618238-TG-AT c.1391_1392delinsAT p.S464Y Missense 11/13 - 5
4-72618238-T-TA c.1391_1392insT p.E465Rfs*3 Frameshift 11/13 - 1
4-72618239-G-A c.1391C>T p.S464L Missense 11/13 - 4
4-72618239-GA-CT c.1390_1391delinsAG p.S464R Missense 11/13 - 2
4-72618239-G-C c.1391C>G p.S464* Nonsense 11/13 - 1
4-72618239-G-T c.1391C>A p.S464* Nonsense 11/13 - 3
4-72618239-TGAA-T c.1389_1391del p.D463_S464delinsE MultiAAMissense 11/13 - 1
4-72618240-AATCAC-CAT c.1385_1390delinsATG p.C462_S464delinsYA MultiAAMissense 11/13 - 1
4-72618240-A-C c.1390T>G p.S464A Missense 11/13 - 2
4-72618240-A-G c.1390T>C p.S464P Missense 11/13 - 3
4-72618240-A-T c.1390T>A p.S464T Missense 11/13 - 2
4-72618240-GAA-G c.1389_1390del p.S464Rfs*3 Frameshift 11/13 - 1
4-72618239-GA-G c.1390del p.S464Qfs*7 Frameshift 11/13 - 2
4-72618241-A-C c.1389T>G p.D463E Missense 11/13 - 1
4-72618241-A-G c.1389T>C p.D463= Synonymous 11/13 - 5
4-72618241-A-T c.1389T>A p.D463E Missense 11/13 - 4
4-72618242-AT-A c.1388del p.D463Vfs*8 Frameshift 11/13 - 1
4-72618242-T-A c.1388A>T p.D463V Missense 11/13 - 3
4-72618242-T-C c.1388A>G p.D463G Missense 11/13 - 4
4-72618242-T-G c.1388A>C p.D463A Missense 11/13 - 2
4-72618242-T-TG c.1387_1388insC p.D463Afs*5 Frameshift 11/13 - 1
4-72618242-T-TC c.1387dup p.D463Gfs*5 Frameshift 11/13 - 1
4-72618243-C-A c.1387G>T p.D463Y Missense 11/13 - 6
4-72618243-C-G c.1387G>C p.D463H Missense 11/13 - 2
4-72618243-C-T c.1387G>A p.D463N Missense 11/13 - 5
4-72618242-T-TCAGGGCCAGGGCCAAGGCCTGGGC c.1387_1388insGCCCAGGCCTTGGCCCTGGCCCTG p.C462_D463insGPGLGPGP InFrameInsertion 11/13 - 1
4-72618243-C-CA c.1386dup p.D463* Nonsense 11/13 - 1
4-72618244-A-C c.1386T>G p.C462W Missense 11/13 - 1
4-72618244-A-G c.1386T>C p.C462= Synonymous 11/13 - 7
4-72618244-A-T c.1386T>A p.C462* Nonsense 11/13 - 3
4-72618244-CA-C c.1386del p.C462Wfs*9 Frameshift 11/13 - 1
4-72618243-CACAGTAA-C c.1380_1386del p.Y461Ifs*8 Frameshift 11/13 - 1
4-72618244-A-AC c.1385dup p.C462Wfs*2 Frameshift 11/13 - 1
4-72618245-AC-A c.1385del p.C462Lfs*9 Frameshift 11/13 - 3
4-72618245-C-A c.1385G>T p.C462F Missense 11/13 - 2
4-72618245-CA-GT c.1384_1385delinsAC p.C462T Missense 11/13 - 1
4-72618245-C-CGA c.1384_1385insTC p.C462Ffs*10 Frameshift 11/13 - 1
4-72618245-C-G c.1385G>C p.C462S Missense 11/13 - 1
4-72618245-C-T c.1385G>A p.C462Y Missense 11/13 - 10
4-72618245-C-CA c.1384dup p.C462Lfs*2 Frameshift 11/13 - 1
4-72618246-A-C c.1384T>G p.C462G Missense 11/13 - 1
4-72618246-A-G c.1384T>C p.C462R Missense 11/13 - 5
4-72618246-A-T c.1384T>A p.C462S Missense 11/13 - 2
4-72618246-CA-C c.1384del p.C462Vfs*9 Frameshift 11/13 - 1
4-72618246-A-AG c.1383dup p.C462Lfs*2 Frameshift 11/13 - 1
4-72618247-G-A c.1383C>T p.Y461= Synonymous 11/13 - 12
4-72618247-G-C c.1383C>G p.Y461* Nonsense 11/13 - 1
4-72618247-G-T c.1383C>A p.Y461* Nonsense 11/13 - 3
4-72618247-G-GTCT c.1382_1383insAGA p.Y461delins* Nonsense 11/13 - 1
4-72618248-GT-G c.1382del p.Y461Sfs*10 Frameshift 11/13 - 2
4-72618248-TA-CG c.1381_1382delinsCG p.Y461R Missense 11/13 - 1
4-72618248-T-C c.1382A>G p.Y461C Missense 11/13 - 5
4-72618248-T-TTCTGAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAAGAGAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAA c.1381_1382insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCTCTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAGA p.Y461Ffs*37 Frameshift 11/13 - 1
4-72618249-A-AGCCTGT c.1380_1381insACAGGC p.L460_Y461insTG InFrameInsertion 11/13 - 1
4-72618249-A-ATTC c.1380_1381insGAA p.L460_Y461insE InFrameInsertion 11/13 - 1
4-72618249-A-C c.1381T>G p.Y461D Missense 11/13 - 1
4-72618249-A-G c.1381T>C p.Y461H Missense 11/13 - 4
4-72618249-A-T c.1381T>A p.Y461N Missense 11/13 - 1
4-72618250-AAG-CAT c.1378_1380delinsATG p.L460M Missense 11/13 - 2
4-72618250-AAG-CTT c.1378_1380inv p.L460K Missense 11/13 - 1
4-72618250-AA-TT c.1379_1380inv p.L460Q Missense 11/13 - 3
4-72618250-A-C c.1380T>G p.L460= Synonymous 11/13 - 7
4-72618250-A-G c.1380T>C p.L460= Synonymous 11/13 - 12
4-72618250-A-T c.1380T>A p.L460= Synonymous 11/13 - 10
4-72618248-TA-T c.1381del p.Y461Tfs*10 Frameshift 11/13 - 3
4-72618248-T-TA c.1381dup p.Y461Lfs*3 Frameshift 11/13 - 1
4-72618251-A-ATCC c.1378_1379insGGA p.L460delinsRI MultiAAMissense 11/13 - 1
4-72618251-A-C c.1379T>G p.L460R Missense 11/13 - 1
4-72618251-A-G c.1379T>C p.L460P Missense 11/13 - 3
4-72618251-AG-TT c.1378_1379delinsAA p.L460N Missense 11/13 - 1
4-72618251-A-T c.1379T>A p.L460H Missense 11/13 - 2
4-72618251-A-AG c.1378dup p.L460Pfs*4 Frameshift 11/13 - 2
4-72618252-AGAGGAGGTGAGTTTATGGAACAGCAGTTGGAGGCAAAGTCTGAGTGCTTGTTAACCAG-A c.1321_1378del p.L441Ffs*11 Frameshift 11/13 - 1
4-72618252-G-A c.1378C>T p.L460F Missense 11/13 - 4
4-72618252-G-GCGGGCCGCCCCGGAGTCGGGATCGGCTGGGGCGTCA c.1377_1378insTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG p.P459_L460ins* Nonsense 11/13 - 1
4-72618252-G-GTCTTTCTAATTGTTACCAAACATCTATTCTTGTCTTTCTACTTAGGACTATTGAATTTTAGCTGGGT c.1377_1378insACCCAGCTAAAATTCAATAGTCCTAAGTAGAAAGACAAGAATAGATGTTTGGTAACAATTAGAAAGA p.L460Tfs*10 Frameshift 11/13 - 1
4-72618252-G-T c.1378C>A p.L460I Missense 11/13 - 6
4-72618250-AAG-A c.1378_1379del p.Y461Lfs*2 Frameshift 11/13 - 1
4-72618252-G-GAAAGC c.1377_1378insGCTTT p.L460Afs*13 Frameshift 11/13 - 1
4-72618253-A-ATCAGC c.1376_1377insGCTGA p.Y461Ifs*12 Frameshift 11/13 - 1
4-72618253-A-C c.1377T>G p.P459= Synonymous 11/13 - 5
4-72618253-A-G c.1377T>C p.P459= Synonymous 11/13 - 6
4-72618253-A-T c.1377T>A p.P459= Synonymous 11/13 - 4
4-72618253-GA-G c.1377del p.L460Ffs*11 Frameshift 11/13 - 2
4-72618254-G-A c.1376C>T p.P459L Missense 11/13 - 17
4-72618254-G-C c.1376C>G p.P459R Missense 11/13 - 1
4-72618254-G-T c.1376C>A p.P459H Missense 11/13 - 2
4-72618253-A-AG c.1376dup p.L460Sfs*4 Frameshift 11/13 - 4
4-72618253-AG-A c.1376del p.P459Lfs*12 Frameshift 11/13 - 1
4-72618255-G-A c.1375C>T p.P459S Missense 11/13 - 9
4-72618255-G-C c.1375C>G p.P459A Missense 11/13 - 3
4-72618255-G-T c.1375C>A p.P459T Missense 11/13 - 1
4-72618256-A-AT c.1373_1374insA p.P459Sfs*5 Frameshift 11/13 - 1
4-72618256-A-C c.1374T>G p.P458= Synonymous 11/13 - 4
4-72618256-A-G c.1374T>C p.P458= Synonymous 11/13 - 7
4-72618256-AGG-CTT c.1372_1374delinsAAG p.P458K Missense 11/13 - 1
4-72618256-AGG-GTCGTC c.1372_1374delinsGACGAC p.P458delinsDD MultiAAMissense 11/13 - 1
4-72618256-A-T c.1374T>A p.P458= Synonymous 11/13 - 3
4-72618256-GA-G c.1374del p.P459Lfs*12 Frameshift 11/13 - 1
4-72618257-G-A c.1373C>T p.P458L Missense 11/13 - 9
4-72618257-G-C c.1373C>G p.P458R Missense 11/13 - 3
4-72618257-G-T c.1373C>A p.P458H Missense 11/13 - 1
4-72618256-A-AG c.1373dup p.P459Sfs*5 Frameshift 11/13 - 2
4-72618256-AG-A c.1373del p.P458Lfs*13 Frameshift 11/13 - 1
4-72618258-G-A c.1372C>T p.P458S Missense 11/13 - 9
4-72618258-GGTGAGTTTATGGAACAGCAGTTGGAGGCAAAGTCTGAGTGCTTGTTAACCAGCTTTGCC-G c.1314_1372del p.A439Sfs*5 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/13 - 1
4-72618258-G-T c.1372C>A p.P458T Missense 11/13 - 2
4-72618259-GT-G c.1371del p.P458Lfs*13 Frameshift 11/13 - 1
4-72618259-GTGA-G c.1369_1371del p.S457del InFrameDeletion 11/13 - 3
4-72618259-T-A c.1371A>T p.S457= Synonymous 11/13 - 7
4-72618259-T-C c.1371A>G p.S457= Synonymous 11/13 - 9
4-72618259-T-G c.1371A>C p.S457= Synonymous 11/13 - 8
4-72618259-TG-AA c.1370_1371delinsTT p.S457F Missense 11/13 - 1
4-72618259-TG-AC c.1370_1371delinsGT p.S457C Missense 11/13 - 1
4-72618259-TGA-GTT c.1369_1371delinsAAC p.S457N Missense 11/13 - 2
4-72618259-TG-AT c.1370_1371delinsAT p.S457Y Missense 11/13 - 1
4-72618259-T-TG c.1370dup p.P458Tfs*6 Frameshift 11/13 - 2
4-72618260-G-A c.1370C>T p.S457L Missense 11/13 - 4
4-72618260-GA-AT c.1369_1370delinsAT p.S457I Missense 11/13 - 1
4-72618260-GA-CC c.1369_1370delinsGG p.S457G Missense 11/13 - 1
4-72618260-G-C c.1370C>G p.S457* Nonsense 11/13 - 3
4-72618260-G-GC c.1369_1370insG p.S457Cfs*7 Frameshift 11/13 - 1
4-72618260-G-T c.1370C>A p.S457* Nonsense 11/13 - 2
4-72618260-TG-T c.1370del p.S457Yfs*14 Frameshift 11/13 - 3
4-72618259-TGA-T c.1369_1370del p.S457Tfs*6 Frameshift 11/13 - 1
4-72618260-G-GA c.1369dup p.S457Ffs*7 Frameshift 11/13 - 1
4-72618261-A-C c.1369T>G p.S457A Missense 11/13 - 4
4-72618261-A-G c.1369T>C p.S457P Missense 11/13 - 6
4-72618261-A-T c.1369T>A p.S457T Missense 11/13 - 2
4-72618261-A-AG c.1368dup p.S457Lfs*7 Frameshift 11/13 - 2
4-72618261-A-AGCC c.1368_1369insGGC p.N456_S457insG InFrameInsertion 11/13 - 2
4-72618262-AG-A c.1368del p.S457Hfs*14 Frameshift 11/13 - 1
4-72618262-G-A c.1368C>T p.N456= Synonymous 11/13 - 6
4-72618262-G-C c.1368C>G p.N456K Missense 11/13 - 3
4-72618262-G-GA c.1367_1368insT p.S457Lfs*7 Frameshift 11/13 - 1
4-72618262-G-T c.1368C>A p.N456K Missense 11/13 - 2
4-72618263-T-A c.1367A>T p.N456I Missense 11/13 - 2
4-72618263-T-C c.1367A>G p.N456S Missense 11/13 - 5
4-72618263-T-G c.1367A>C p.N456T Missense 11/13 - 3
4-72618263-T-TA c.1366_1367insT p.N456Ifs*8 Frameshift 11/13 - 1
4-72618263-TT-AG c.1366_1367delinsCT p.N456L Missense 11/13 - 1
4-72618263-TT-GC c.1366_1367delinsGC p.N456A Missense 11/13 - 1
4-72618264-T-A c.1366A>T p.N456Y Missense 11/13 - 1
4-72618264-T-C c.1366A>G p.N456D Missense 11/13 - 3
4-72618264-T-G c.1366A>C p.N456H Missense 11/13 - 5
4-72618262-G-GT c.1367dup p.N456Kfs*8 Frameshift 11/13 - 4
4-72618262-GT-G c.1367del p.N456Tfs*15 Frameshift 11/13 - 1
4-72618265-T-A c.1365A>T p.I455= Synonymous 11/13 - 5
4-72618265-T-C c.1365A>G p.I455M Missense 11/13 - 8
4-72618265-T-G c.1365A>C p.I455= Synonymous 11/13 - 4
4-72618265-TTATGGAACAGCAGTTGGAGGCAAAGTCTG-T c.1337_1365del p.S446* Frameshift 11/13 - 1
4-72618265-TTATGGAACAGC-T c.1355_1365del p.C452* Frameshift 11/13 - 1
4-72618266-A-C c.1364T>G p.I455R Missense 11/13 - 1
4-72618266-A-G c.1364T>C p.I455T Missense 11/13 - 7
4-72618266-A-T c.1364T>A p.I455K Missense 11/13 - 1
4-72618266-TA-T c.1364del p.I455Kfs*16 Frameshift 11/13 - 4
4-72618265-TATGGAACAGCAGTTGGAGGCAAAGTCTGAGTGCTTGTTAACC-T c.1323_1364del p.V442_I455del InFrameDeletion 11/13 - 2
4-72618266-A-AT c.1363dup p.I455Nfs*9 Frameshift 11/13 - 1
4-72618266-A-ATTACAGAAC c.1363_1364insGTTCTGTAA p.S454_I455insSSV InFrameInsertion 11/13 - 1
4-72618267-AT-A c.1363del p.I455* Frameshift 11/13 - 1
4-72618267-T-A c.1363A>T p.I455L Missense 11/13 - 4
4-72618267-T-C c.1363A>G p.I455V Missense 11/13 - 5
4-72618267-T-G c.1363A>C p.I455L Missense 11/13 - 2
4-72618267-T-TTTC c.1362_1363insGAA p.S454_I455insE InFrameInsertion 11/13 - 1
4-72618267-T-TGCTTC c.1362_1363insGAAGC p.I455Efs*3 Frameshift 11/13 - 1
4-72618268-G-A c.1362C>T p.S454= Synonymous 11/13 - 10
4-72618268-G-C c.1362C>G p.S454= Synonymous 11/13 - 7
4-72618268-GG-TT c.1361_1362delinsAA p.S454* Nonsense 11/13 - 2
4-72618268-G-T c.1362C>A p.S454= Synonymous 11/13 - 5
4-72618266-ATGGAACAGCAGTTGGAGGCAAAGTC-A c.1339_1363del p.D447* Frameshift 11/13 - 1
4-72618267-TG-T c.1362del p.I455* Frameshift 11/13 - 2
4-72618267-T-TG c.1362dup p.I455Hfs*9 Frameshift 11/13 - 2
4-72618269-G-A c.1361C>T p.S454F Missense 11/13 - 3
4-72618269-GA-CC c.1360_1361delinsGG p.S454G Missense 11/13 - 2
4-72618269-GA-CG c.1360_1361delinsCG p.S454R Missense 11/13 - 1
4-72618269-GA-TT c.1360_1361delinsAA p.S454N Missense 11/13 - 2
4-72618269-G-C c.1361C>G p.S454C Missense 11/13 - 3
4-72618269-G-T c.1361C>A p.S454Y Missense 11/13 - 3
4-72618270-A-AG c.1359_1360insC p.S454Lfs*10 Frameshift 11/13 - 1
4-72618270-A-AT c.1359_1360insA p.S454Ifs*10 Frameshift 11/13 - 1
4-72618270-A-C c.1360T>G p.S454A Missense 11/13 - 5
4-72618270-A-G c.1360T>C p.S454P Missense 11/13 - 7
4-72618270-A-T c.1360T>A p.S454T Missense 11/13 - 2
4-72618269-GA-G c.1360del p.S454Pfs*2 Frameshift 11/13 - 3
4-72618269-G-GA c.1360dup p.S454Ffs*10 Frameshift 11/13 - 1
4-72618271-A-AGCTCCTCTGAAG c.1358_1359insCTTCAGAGGAGC p.C453_S454insFRGA InFrameInsertion 11/13 - 1
4-72618271-A-C c.1359T>G p.C453W Missense 11/13 - 2
4-72618271-A-G c.1359T>C p.C453= Synonymous 11/13 - 8
4-72618271-A-T c.1359T>A p.C453* Nonsense 11/13 - 3
4-72618271-A-ACTT c.1358_1359insAAG p.C453delins* Nonsense 11/13 - 1
4-72618272-C-A c.1358G>T p.C453F Missense 11/13 - 4
4-72618272-CA-GT c.1357_1358delinsAC p.C453T Missense 11/13 - 1
4-72618272-C-G c.1358G>C p.C453S Missense 11/13 - 2
4-72618272-C-T c.1358G>A p.C453Y Missense 11/13 - 3
4-72618273-A-C c.1357T>G p.C453G Missense 11/13 - 1
4-72618273-A-G c.1357T>C p.C453R Missense 11/13 - 5
4-72618273-A-T c.1357T>A p.C453S Missense 11/13 - 2
4-72618273-A-AG c.1356dup p.C453Lfs*11 Frameshift 11/13 - 1
4-72618274-G-A c.1356C>T p.C452= Synonymous 11/13 - 7
4-72618274-G-C c.1356C>G p.C452W Missense 11/13 - 1
4-72618274-G-T c.1356C>A p.C452* Nonsense 11/13 - 4
4-72618272-C-CAGCTGG c.1357_1358insCCAGCT p.C452_C453insSS InFrameInsertion 11/13 - 1
4-72618273-A-AGCCAGCAGCCTCAGTAGTGGT c.1356_1357insACCACTACTGAGGCTGCTGGC p.C452_C453insTTTEAAG InFrameInsertion 11/13 - 1
4-72618274-G-GC c.1355dup p.C452Wfs*12 Frameshift 11/13 - 2
4-72618275-C-A c.1355G>T p.C452F Missense 11/13 - 4
4-72618275-CA-GC c.1354_1355delinsGC p.C452A Missense 11/13 - 1
4-72618275-CA-GT c.1354_1355delinsAC p.C452T Missense 11/13 - 3
4-72618275-CA-TG c.1354_1355inv p.C452H Missense 11/13 - 1
4-72618275-C-G c.1355G>C p.C452S Missense 11/13 - 5
4-72618275-C-T c.1355G>A p.C452Y Missense 11/13 - 7
4-72618275-GCAGT-G c.1352_1355del p.N451Tfs*4 Frameshift 11/13 - 1
4-72618275-C-CA c.1354dup p.C452Lfs*12 Frameshift 11/13 - 1
4-72618276-A-C c.1354T>G p.C452G Missense 11/13 - 4
4-72618276-A-G c.1354T>C p.C452R Missense 11/13 - 9
4-72618276-A-T c.1354T>A p.C452S Missense 11/13 - 2
4-72618276-CA-C c.1354del p.C452Afs*4 Frameshift 11/13 - 1
4-72618276-A-AG c.1353dup p.C452Lfs*12 Frameshift 11/13 - 1
4-72618277-AGTTGGAGGCAAAGTCTGAGTGCTTGTTAACCAGCTTTGCCAGTTCCGTGGGTGTGGCAT-A c.1295_1353del p.D432Vfs*12 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/13 - 1
4-72618277-G-A c.1353C>T p.N451= Synonymous 11/13 - 6
4-72618277-G-C c.1353C>G p.N451K Missense 11/13 - 4
4-72618277-G-T c.1353C>A p.N451K Missense 11/13 - 4
4-72618278-T-A c.1352A>T p.N451I Missense 11/13 - 2
4-72618278-T-C c.1352A>G p.N451S Missense 11/13 - 5
4-72618278-T-G c.1352A>C p.N451T Missense 11/13 - 2
4-72618277-G-GT c.1352dup p.N451Kfs*13 Frameshift 11/13 - 1
4-72618277-GT-G c.1352del p.N451Tfs*5 Frameshift 11/13 - 1
4-72618279-T-A c.1351A>T p.N451Y Missense 11/13 - 4
4-72618279-T-C c.1351A>G p.N451D Missense 11/13 - 4
4-72618279-T-G c.1351A>C p.N451H Missense 11/13 - 2
4-72618279-T-TA c.1350_1351insT p.N451* Nonsense 11/13 - 1
4-72618280-G-A c.1350C>T p.S450= Synonymous 11/13 - 9
4-72618280-G-C c.1350C>G p.S450= Synonymous 11/13 - 6
4-72618280-GG-CC c.1349_1350inv p.S450W Missense 11/13 - 1
4-72618280-G-GTC c.1349_1350insGA p.N451Tfs*6 Frameshift 11/13 - 1
4-72618280-G-T c.1350C>A p.S450= Synonymous 11/13 - 7
4-72618280-TGG-T c.1349_1350del p.S450* Frameshift 11/13 - 1
4-72618279-T-TG c.1350dup p.N451Qfs*13 Frameshift 11/13 - 1
4-72618281-G-A c.1349C>T p.S450F Missense 11/13 - 5
4-72618281-GA-AC c.1348_1349delinsGT p.S450V Missense 11/13 - 1
4-72618281-GA-AG c.1348_1349delinsCT p.S450L Missense 11/13 - 25
4-72618281-GA-AT c.1348_1349delinsAT p.S450I Missense 11/13 - 1
4-72618281-GA-CC c.1348_1349delinsGG p.S450G Missense 11/13 - 1
4-72618281-GA-CG c.1348_1349delinsCG p.S450R Missense 11/13 - 1
4-72618281-GA-TC c.1348_1349inv p.S450D Missense 11/13 - 5
4-72618281-GA-TG c.1348_1349delinsCA p.S450H Missense 11/13 - 1
4-72618281-GA-TT c.1348_1349delinsAA p.S450N Missense 11/13 - 2
4-72618281-G-C c.1349C>G p.S450C Missense 11/13 - 2
4-72618281-G-GT c.1348_1349insA p.S450Yfs*14 Frameshift 11/13 - 1
4-72618281-G-GTCC c.1348_1349insGGA p.S450delinsWT MultiAAMissense 11/13 - 2
4-72618281-G-T c.1349C>A p.S450Y Missense 11/13 - 4
4-72618282-A-C c.1348T>G p.S450A Missense 11/13 - 3
4-72618282-A-G c.1348T>C p.S450P Missense 11/13 - 1
4-72618282-A-T c.1348T>A p.S450T Missense 11/13 - 1
4-72618282-GA-G c.1348del p.S450Pfs*6 Frameshift 11/13 - 1
4-72618283-G-A c.1347C>T p.A449= Synonymous 11/13 - 8
4-72618283-G-C c.1347C>G p.A449= Synonymous 11/13 - 4
4-72618283-GGC-CTT c.1345_1347delinsAAG p.A449K Missense 11/13 - 1
4-72618283-GG-CT c.1346_1347delinsAG p.A449E Missense 11/13 - 3
4-72618283-G-T c.1347C>A p.A449= Synonymous 11/13 - 6
4-72618282-A-AG c.1347dup p.S450Lfs*14 Frameshift 11/13 - 1
4-72618282-AG-A c.1347del p.S450Pfs*6 Frameshift 11/13 - 1
4-72618284-G-A c.1346C>T p.A449V Missense 11/13 - 8
4-72618284-G-C c.1346C>G p.A449G Missense 11/13 - 1
4-72618284-GC-AT c.1345_1346delinsAT p.A449I Missense 11/13 - 1
4-72618284-GC-CA c.1345_1346delinsTG p.A449C Missense 11/13 - 1
4-72618284-G-T c.1346C>A p.A449D Missense 11/13 - 2
4-72618284-G-GC c.1345dup p.A449Gfs*15 Frameshift 11/13 - 1
4-72618285-C-A c.1345G>T p.A449S Missense 11/13 - 3
4-72618285-C-CGTT c.1344_1345insAAC p.F448_A449insN InFrameInsertion 11/13 - 1
4-72618285-C-G c.1345G>C p.A449P Missense 11/13 - 3
4-72618285-C-T c.1345G>A p.A449T Missense 11/13 - 16
4-72618285-GC-G c.1345del p.A449Pfs*7 Frameshift 11/13 - 1
4-72618286-A-AG c.1343_1344insC p.A449Cfs*15 Frameshift 11/13 - 1
4-72618286-A-ATAT c.1343_1344insATA p.F448delinsLY MultiAAMissense 11/13 - 1
4-72618286-A-ATGTGAGGGGGTTTCGGTGGTGGCGAT c.1343_1344insATCGCCACCACCGAAACCCCCTCACA p.F448Lfs*17 Frameshift 11/13 - 1
4-72618286-A-G c.1344T>C p.F448= Synonymous 11/13 - 4
4-72618287-AAAGT-A c.1340_1343del p.D447Vfs*8 Frameshift 11/13 - 1
4-72618287-AAAGTCTGAGTGCTTGTTAACCAGCTTTGCCAGTTCCGTGGGTGTGGCATCAGGCAATTT-A c.1285_1343del p.K429Cfs*15 InFrameDeletion 11/13 - 1
4-72618287-A-ACTGGGTTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTGGCTCAGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.1342_1343insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCTGAGCCAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACCCAG p.F448* Nonsense 11/13 - 1
4-72618287-A-ACTGGTTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTGGTTGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.1342_1343insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAACAACCAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACCAG p.F448delins* Nonsense 11/13 - 1
4-72618287-A-T c.1343T>A p.F448Y Missense 11/13 - 1
4-72618285-CA-C c.1344del p.F448Lfs*8 Frameshift 11/13 - 1
4-72618285-C-CA c.1344dup p.A449Cfs*15 Frameshift 11/13 - 1
4-72618286-A-C c.1344T>G p.F448L Missense 11/13 - 3
4-72618286-A-T c.1344T>A p.F448L Missense 11/13 - 4
4-72618287-A-AATTTTTTTTTTCAAGCAGAAGACGGCATACGAGATGGATTAGGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.1342_1343insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTAATCCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAT p.F448* Nonsense 11/13 - 1
4-72618288-A-ATGC c.1341_1342insGCA p.D447_F448insA InFrameInsertion 11/13 - 1
4-72618288-A-C c.1342T>G p.F448V Missense 11/13 - 2
4-72618288-A-G c.1342T>C p.F448L Missense 11/13 - 6
4-72618288-A-T c.1342T>A p.F448I Missense 11/13 - 1
4-72618288-A-AG c.1341dup p.F448Lfs*16 Frameshift 11/13 - 1
4-72618289-AG-A c.1341del p.F448Lfs*8 Frameshift 11/13 - 1
4-72618289-G-A c.1341C>T p.D447= Synonymous 11/13 - 6
4-72618289-G-C c.1341C>G p.D447E Missense 11/13 - 2
4-72618289-G-GATGAT c.1340_1341insATCAT p.D447Efs*11 Frameshift 11/13 - 1
4-72618289-G-T c.1341C>A p.D447E Missense 11/13 - 5
4-72618290-GT-G c.1340del p.D447Afs*9 Frameshift 11/13 - 1
4-72618290-T-A c.1340A>T p.D447V Missense 11/13 - 3
4-72618290-T-C c.1340A>G p.D447G Missense 11/13 - 6
4-72618290-T-G c.1340A>C p.D447A Missense 11/13 - 4
4-72618290-T-TC c.1339dup p.D447Gfs*17 Frameshift 11/13 - 2
4-72618291-C-A c.1339G>T p.D447Y Missense 11/13 - 3
4-72618291-C-CCAAATAGTTGACCAAATCTCCATAGAAGCAATACTCTGTGATGATGTAAATGGGGCCTATTTTTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT c.1338_1339insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAATAGGCCCCATTTACATCATCACAGAGTATTGCTTCTATGGAGATTTGGTCAACTATTTG p.D447Rfs*20 Frameshift 11/13 - 1
4-72618291-C-G c.1339G>C p.D447H Missense 11/13 - 7
4-72618291-C-T c.1339G>A p.D447N Missense 11/13 - 10
4-72618291-C-CT c.1338dup p.D447Rfs*17 Frameshift 11/13 - 1
4-72618292-CT-C c.1338del p.D447Tfs*9 Frameshift 11/13 - 1
4-72618292-T-A c.1338A>T p.S446= Synonymous 11/13 - 1
4-72618292-T-C c.1338A>G p.S446= Synonymous 11/13 - 5
4-72618292-T-G c.1338A>C p.S446= Synonymous 11/13 - 3
4-72618292-TG-AA c.1337_1338delinsTT p.S446F Missense 11/13 - 1
4-72618292-TG-AC c.1337_1338delinsGT p.S446C Missense 11/13 - 3
4-72618292-TGA-GTT c.1336_1338delinsAAC p.S446N Missense 11/13 - 2
4-72618292-T-TA c.1337_1338insT p.D447Rfs*17 Frameshift 11/13 - 1
4-72618292-T-TTGTGCTGGATTTAAGATGGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAA c.1337_1338insTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCCATCTTAAATCCAGCACA p.D447Lfs*21 Frameshift 11/13 - 1
4-72618293-G-A c.1337C>T p.S446L Missense 11/13 - 9
4-72618293-GA-AT c.1336_1337delinsAT p.S446I Missense 11/13 - 1
4-72618293-GA-CC c.1336_1337delinsGG p.S446G Missense 11/13 - 2
4-72618293-G-C c.1337C>G p.S446* Nonsense 11/13 - 1
4-72618293-G-T c.1337C>A p.S446* Nonsense 11/13 - 4
4-72618292-TGA-T c.1336_1337del p.S446Rfs*17 Frameshift 11/13 - 1
4-72618294-A-C c.1336T>G p.S446A Missense 11/13 - 3
4-72618294-A-G c.1336T>C p.S446P Missense 11/13 - 3
4-72618294-A-T c.1336T>A p.S446T Missense 11/13 - 3
4-72618294-GA-G c.1336del p.S446Qfs*10 Frameshift 11/13 - 1
4-72618294-A-AG c.1335dup p.S446Lfs*18 Frameshift 11/13 - 1
4-72618295-G-A c.1335C>T p.H445= Synonymous 11/13 - 5
4-72618295-G-C c.1335C>G p.H445Q Missense 11/13 - 4
4-72618295-G-T c.1335C>A p.H445Q Missense 11/13 - 4
4-72618296-T-A c.1334A>T p.H445L Missense 11/13 - 16
4-72618296-T-C c.1334A>G p.H445R Missense 11/13 - 45
4-72618296-T-G c.1334A>C p.H445P Missense 11/13 - 15
4-72618296-TG-CC c.1333_1334delinsGG p.H445G Missense 11/13 - 1
4-72618296-T-TG c.1333dup p.H445Pfs*19 Frameshift 11/13 - 1
4-72618297-G-A c.1333C>T p.H445Y Missense 11/13 - 9
4-72618297-G-C c.1333C>G p.H445D Missense 11/13 - 5
4-72618297-G-T c.1333C>A p.H445N Missense 11/13 - 5
4-72618297-TG-T c.1333del p.H445Tfs*11 Frameshift 11/13 - 1
4-72618296-T-TGCG c.1333_1334insCGC p.K444_H445insP InFrameInsertion 11/13 - 1
4-72618297-G-GC c.1332dup p.H445Afs*19 Frameshift 11/13 - 1
4-72618298-C-A c.1332G>T p.K444N Missense 11/13 - 10
4-72618298-C-CCTCTCCGGCA c.1331_1332insTGCCGGAGAG p.K444Nfs*23 Frameshift 11/13 - 1
4-72618298-C-G c.1332G>C p.K444N Missense 11/13 - 10
4-72618298-C-T c.1332G>A p.K444= Synonymous 11/13 - 5
4-72618298-CT-GA c.1331_1332delinsTC p.K444I Missense 11/13 - 1
4-72618298-GCT-G c.1331_1332del p.K444Tfs*19 Frameshift 11/13 - 1
4-72618299-CTT-C c.1330_1331del p.K444Afs*19 Frameshift 11/13 - 1
4-72618299-T-A c.1331A>T p.K444M Missense 11/13 - 1
4-72618299-T-C c.1331A>G p.K444R Missense 11/13 - 5
4-72618299-T-G c.1331A>C p.K444T Missense 11/13 - 2
4-72618299-T-TG c.1330_1331insC p.K444Tfs*20 Frameshift 11/13 - 1
4-72618298-C-CT c.1331dup p.H445Afs*19 Frameshift 11/13 - 1
4-72618298-CT-C c.1331del p.K444Sfs*12 Frameshift 11/13 - 2
4-72618300-T-A c.1330A>T p.K444* Nonsense 11/13 - 1
4-72618300-T-C c.1330A>G p.K444E Missense 11/13 - 4
4-72618300-T-G c.1330A>C p.K444Q Missense 11/13 - 5
4-72618300-T-TA c.1329_1330insT p.K444* Nonsense 11/13 - 4
4-72618300-T-TC c.1329_1330insG p.K444Efs*20 Frameshift 11/13 - 1
4-72618298-CTTG-C c.1329_1331del p.N443del InFrameDeletion 11/13 - 1
4-72618300-T-TG c.1329dup p.K444Qfs*20 Frameshift 11/13 - 2
4-72618301-G-A c.1329C>T p.N443= Synonymous 11/13 - 10
4-72618301-G-C c.1329C>G p.N443K Missense 11/13 - 8
4-72618301-G-GC c.1328_1329insG p.N443Kfs*21 Frameshift 11/13 - 1
4-72618301-G-T c.1329C>A p.N443K Missense 11/13 - 5
4-72618302-T-A c.1328A>T p.N443I Missense 11/13 - 1
4-72618302-T-C c.1328A>G p.N443S Missense 11/13 - 7
4-72618302-T-G c.1328A>C p.N443T Missense 11/13 - 3
4-72618302-TT-AA c.1327_1328inv p.N443F Missense 11/13 - 1
4-72618301-G-GT c.1328dup p.N443Kfs*21 Frameshift 11/13 - 2
4-72618301-GT-G c.1328del p.N443Tfs*13 Frameshift 11/13 - 3
4-72618303-T-A c.1327A>T p.N443Y Missense 11/13 - 2
4-72618303-T-C c.1327A>G p.N443D Missense 11/13 - 6
4-72618303-T-G c.1327A>C p.N443H Missense 11/13 - 3
4-72618303-T-TCCGTGGTGCTGTCATCTCACTGACTG c.1326_1327insCAGTCAGTGAGATGACAGCACCACGG p.N443Qfs*5 Frameshift 11/13 - 1
4-72618304-A-C c.1326T>G p.V442= Synonymous 11/13 - 5
4-72618304-A-G c.1326T>C p.V442= Synonymous 11/13 - 8
4-72618304-A-T c.1326T>A p.V442= Synonymous 11/13 - 6
4-72618303-TA-T c.1326del p.N443Tfs*13 Frameshift 11/13 - 2
4-72618303-T-TA c.1326dup p.N443* Nonsense 11/13 - 2
4-72618303-T-TAAAGC c.1326_1327insGCTTT p.N443Afs*15 Frameshift 11/13 - 1
4-72618305-A-AG c.1324_1325insC p.V442Afs*2 Frameshift 11/13 - 1
4-72618305-A-C c.1325T>G p.V442G Missense 11/13 - 1
4-72618305-AC-CA c.1324_1325delinsTG p.V442C Missense 11/13 - 1
4-72618305-A-G c.1325T>C p.V442A Missense 11/13 - 6
4-72618305-A-T c.1325T>A p.V442D Missense 11/13 - 1
4-72618306-C-A c.1324G>T p.V442F Missense 11/13 - 2
4-72618306-C-CTTTGTCACAGGTTCCAGTACCCACATTGTTATTGGCTTTTCCCATCAACAAGGCAGAGAGAGATGGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAA c.1323_1324insTTTTTTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCCATCTCTCTCTGCCTTGTTGATGGGAAAAGCCAATAACAATGTGGGTACTGGAACCTGTGACAAA p.L441_V442insFFLMIRRPPRSTLFPYTTLFPSLSALLMGKANNNVGTGTCDK InFrameInsertion 11/13 - 1
4-72618306-C-G c.1324G>C p.V442L Missense 11/13 - 2
4-72618306-C-T c.1324G>A p.V442I Missense 11/13 - 6
4-72618305-A-AC c.1324dup p.V442Gfs*2 Frameshift 11/13 - 1
4-72618307-C-A c.1323G>T p.L441= Synonymous 11/13 - 8
4-72618307-CA-AT c.1322_1323delinsAT p.L441H Missense 11/13 - 1
4-72618307-CAG-AAA c.1321_1323delinsTTT p.L441F Missense 11/13 - 4
4-72618307-CAG-ATA c.1321_1323delinsTAT p.L441Y Missense 11/13 - 1
4-72618307-CAG-GAT c.1321_1323delinsATC p.L441I Missense 11/13 - 3
4-72618307-CAG-GTC c.1321_1323delinsGAC p.L441D Missense 11/13 - 1
4-72618307-CAG-GTT c.1321_1323delinsAAC p.L441N Missense 11/13 - 1
4-72618307-C-G c.1323G>C p.L441= Synonymous 11/13 - 3
4-72618307-C-T c.1323G>A p.L441= Synonymous 11/13 - 7
4-72618309-G-A c.1321C>T p.L441= Synonymous 11/13 - 9
4-72618307-C-CA c.1322dup p.V442Gfs*2 Frameshift 11/13 - 1
4-72618308-A-C c.1322T>G p.L441R Missense 11/13 - 2
4-72618308-A-G c.1322T>C p.L441P Missense 11/13 - 7
4-72618308-AG-GA c.1321_1322delinsTC p.L441S Missense 11/13 - 2
4-72618308-AG-GC c.1321_1322delinsGC p.L441A Missense 11/13 - 1
4-72618308-AG-TA c.1321_1322delinsTA p.L441* Nonsense 11/13 - 1
4-72618308-A-T c.1322T>A p.L441Q Missense 11/13 - 2
4-72618308-CA-C c.1322del p.L441Rfs*15 Frameshift 11/13 - 2
4-72618308-A-AG c.1321dup p.L441Pfs*3 Frameshift 11/13 - 2
4-72618309-G-C c.1321C>G p.L441V Missense 11/13 - 6
4-72618309-G-T c.1321C>A p.L441M Missense 11/13 - 2
4-72618309-G-GC c.1320dup p.L441Afs*3 Frameshift 11/13 - 3
4-72618310-C-A c.1320G>T p.K440N Missense 11/13 - 5
4-72618310-C-G c.1320G>C p.K440N Missense 11/13 - 2
4-72618310-C-T c.1320G>A p.K440= Synonymous 11/13 - 4
4-72618310-GC-G c.1320del p.K440Nfs*16 Frameshift 11/13 - 1
4-72618311-T-A c.1319A>T p.K440M Missense 11/13 - 2
4-72618311-T-C c.1319A>G p.K440R Missense 11/13 - 3
4-72618311-T-G c.1319A>C p.K440T Missense 11/13 - 1
4-72618311-T-TAGTCCCC c.1318_1319insGGGGACT p.K440Rfs*6 Frameshift 11/13 - 1
4-72618311-T-TC c.1318_1319insG p.K440Rfs*4 Frameshift 11/13 - 1
4-72618311-T-TG c.1318_1319insC p.K440Tfs*4 Frameshift 11/13 - 1
4-72618312-T-A c.1318A>T p.K440* Nonsense 11/13 - 2
4-72618312-T-C c.1318A>G p.K440E Missense 11/13 - 5
4-72618312-T-G c.1318A>C p.K440Q Missense 11/13 - 4
4-72618312-T-TA c.1317_1318insT p.K440* Nonsense 11/13 - 1
4-72618310-C-CT c.1319dup p.L441Afs*3 Frameshift 11/13 - 3
4-72618310-CT-C c.1319del p.K440Sfs*16 Frameshift 11/13 - 4
4-72618313-T-A c.1317A>T p.A439= Synonymous 11/13 - 5
4-72618313-T-C c.1317A>G p.A439= Synonymous 11/13 - 6
4-72618313-T-G c.1317A>C p.A439= Synonymous 11/13 - 5
4-72618313-TG-GT c.1316_1317delinsAC p.A439D Missense 11/13 - 1
4-72618313-T-TTAGC c.1316_1317insGCTA p.K440Lfs*5 Frameshift 11/13 - 1
4-72618313-T-TG c.1316dup p.L441Afs*3 Frameshift 11/13 - 2
4-72618313-T-TGAAGAAGTGAATCTGGGAGTACTGTGTGAGGGGGTCTCGGAGGTGGCAATCGAAGAAGTGTAGCTGGGAGTACTACGTAAGATGATCTCAGTGGTGGCGATCGATGAACTGAGGCCGGGAGTACTGTGTGAGATGATCTCGGTGATGGCGATCA c.1316_1317insTGATCGCCATCACCGAGATCATCTCACACAGTACTCCCGGCCTCAGTTCATCGATCGCCACCACTGAGATCATCTTACGTAGTACTCCCAGCTACACTTCTTCGATTGCCACCTCCGAGACCCCCTCACACAGTACTCCCAGATTCACTTCTTC p.K440Dfs*22 Frameshift 11/13 - 1
4-72618313-T-TGAAGAAGTGAATCTGGGAGTACTGTGTGAGGGGGTCTCGGAGGTGGCATTCGAAGAAGTGTAGCTGGGAGTACTACGTAAGATGATCTCAGTGGTGGCGATCGATGAACTGAGGCCGGGAGTACTGTGTGAGATGATCTCGGTGATGGCGATCA c.1316_1317insTGATCGCCATCACCGAGATCATCTCACACAGTACTCCCGGCCTCAGTTCATCGATCGCCACCACTGAGATCATCTTACGTAGTACTCCCAGCTACACTTCTTCGAATGCCACCTCCGAGACCCCCTCACACAGTACTCCCAGATTCACTTCTTC p.K440Dfs*22 Frameshift 11/13 - 1
4-72618313-T-TGAAGAAGTGAATCTGGGAGTACTGTGTGAGGGGGTCTCGGTAGTGGTGATTGAAGAAGTGAATCTGGGAGTACTGTAGGATGTGCTTTTGGTGGTGGTGATTGAAAAAGTCAAGCTGGGAGTACTGTGTGAGATGATCTCGGTGATGGCGATCA c.1316_1317insTGATCGCCATCACCGAGATCATCTCACACAGTACTCCCAGCTTGACTTTTTCAATCACCACCACCAAAAGCACATCCTACAGTACTCCCAGATTCACTTCTTCAATCACCACTACCGAGACCCCCTCACACAGTACTCCCAGATTCACTTCTTC p.K440Dfs*55 Frameshift 11/13 - 1
4-72618314-G-A c.1316C>T p.A439V Missense 11/13 - 9
4-72618314-G-C c.1316C>G p.A439G Missense 11/13 - 2
4-72618314-G-T c.1316C>A p.A439E Missense 11/13 - 3
4-72618314-TGCCAGTTCCGTGGGTGTGGCATCAGGC-T c.1290_1316del p.P431_A439del InFrameDeletion 11/13 - 1
4-72618314-TG-T c.1316del p.A439Efs*17 Frameshift 11/13 - 2
4-72618315-C-A c.1315G>T p.A439S Missense 11/13 - 6
4-72618315-C-CGCT c.1314_1315insAGC p.L438_A439insS InFrameInsertion 11/13 - 1
4-72618315-C-G c.1315G>C p.A439P Missense 11/13 - 3
4-72618315-C-T c.1315G>A p.A439T Missense 11/13 - 11
4-72618313-T-TGCCCC c.1316_1317insGGGGC p.K440Gfs*18 Frameshift 11/13 - 1
4-72618314-G-GC c.1315dup p.A439Gfs*5 Frameshift 11/13 - 1
4-72618315-C-CCTGGTGT c.1314_1315insACACCAG p.A439Tfs*7 Frameshift 11/13 - 2
4-72618316-C-A c.1314G>T p.L438= Synonymous 11/13 - 9
4-72618316-CAG-AAA c.1312_1314delinsTTT p.L438F Missense 11/13 - 2
4-72618316-CAG-ACA c.1312_1314delinsTGT p.L438C Missense 11/13 - 1
4-72618316-CAG-GAT c.1312_1314delinsATC p.L438I Missense 11/13 - 2
4-72618316-CCAG-C c.1312_1314del p.L438del InFrameDeletion 11/13 - 1
4-72618316-C-G c.1314G>C p.L438= Synonymous 11/13 - 7
4-72618316-C-T c.1314G>A p.L438= Synonymous 11/13 - 10
4-72618317-A-ACAG c.1312_1313insCTG p.L438delinsPV MultiAAMissense 11/13 - 2
4-72618317-A-AT c.1312_1313insA p.L438Hfs*6 Frameshift 11/13 - 1
4-72618317-A-C c.1313T>G p.L438R Missense 11/13 - 2
4-72618317-A-G c.1313T>C p.L438P Missense 11/13 - 6
4-72618317-AG-GA c.1312_1313delinsTC p.L438S Missense 11/13 - 1
4-72618317-AG-TA c.1312_1313delinsTA p.L438* Nonsense 11/13 - 2
4-72618317-AG-TC c.1312_1313delinsGA p.L438E Missense 11/13 - 1
4-72618317-A-T c.1313T>A p.L438Q Missense 11/13 - 1
4-72618317-CA-C c.1313del p.L438Rfs*18 Frameshift 11/13 - 1
4-72618317-A-AG c.1312dup p.L438Pfs*6 Frameshift 11/13 - 1
4-72618317-A-AGC c.1312_1313insGC p.L438Rfs*19 Frameshift 11/13 - 1
4-72618318-G-A c.1312C>T p.L438= Synonymous 11/13 - 13
4-72618318-G-C c.1312C>G p.L438V Missense 11/13 - 4
4-72618318-G-T c.1312C>A p.L438M Missense 11/13 - 6
4-72618315-CCAGTTCCGTGGGTGTGGCAT-C c.1295_1314del p.D432Gfs*5 Frameshift 11/13 - 2
4-72618319-T-A c.1311A>T p.E437D Missense 11/13 - 4
4-72618319-T-C c.1311A>G p.E437= Synonymous 11/13 - 7
4-72618319-T-G c.1311A>C p.E437D Missense 11/13 - 5
4-72618312-TTGCCAGTTCCGTGGGTGTGGCATCAGGCAATTTTGCTTTTAGTCGCTC-T c.1270_1317del p.E424_A439del SpliceAcceptorDeletion 11/13 - 1
4-72618318-G-GT c.1311dup p.L438Tfs*6 Frameshift 11/13 - 1
4-72618318-GT-G c.1311del p.E437Dfs*19 Frameshift 11/13 - 2
4-72618320-T-A c.1310A>T p.E437V Missense 11/13 - 1
4-72618320-T-C c.1310A>G p.E437G Missense 11/13 - 6
4-72618320-TTCCGTGGGTGTGGCATCAGGCAATTTTGCTTTTAGTCGCTCTGCCAGTCTGAAAAACCA-T c.1263-11_1310del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/13 10/12 2
4-72618319-TTCCGTGGGTGTGGCATCAGGCAATTTTGCTTTTAGTCGCTCTGCCAGTCTGAAAAACCA-T c.1263-11_1310del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/13 10/12 1
4-72618321-C-A c.1309G>T p.E437* Nonsense 11/13 - 4
4-72618321-C-CA c.1308_1309insT p.E437* Nonsense 11/13 - 1
4-72618321-C-CT c.1308_1309insA p.E437Rfs*7 Frameshift 11/13 - 1
4-72618321-C-G c.1309G>C p.E437Q Missense 11/13 - 1
4-72618321-C-T c.1309G>A p.E437K Missense 11/13 - 10
4-72618321-TCCGTGGGTGTGGCATC-T c.1294_1309del p.D432Nfs*19 Frameshift 11/13 - 1
4-72618320-T-TC c.1309dup p.E437Gfs*7 Frameshift 11/13 - 1
4-72618322-C-A c.1308G>T p.T436= Synonymous 11/13 - 4
4-72618322-C-G c.1308G>C p.T436= Synonymous 11/13 - 2
4-72618322-CG-GA c.1307_1308delinsTC p.T436I Missense 11/13 - 2
4-72618322-CG-GT c.1307_1308delinsAC p.T436N Missense 11/13 - 1
4-72618322-CGT-GTC c.1306_1308delinsGAC p.T436D Missense 11/13 - 1
4-72618322-C-T c.1308G>A p.T436= Synonymous 11/13 - 6
4-72618322-C-CGGCA c.1307_1308insTGCC p.E437Afs*8 Frameshift 11/13 - 1
4-72618323-G-A c.1307C>T p.T436M Missense 11/13 - 376
4-72618323-G-C c.1307C>G p.T436R Missense 11/13 - 1
4-72618323-G-GCAGGGGCCGCCCCGGAGTCGGGATCGGCTGGGGCGT c.1306_1307insACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTG p.T436delinsNAPADPDSGAAPA MultiAAMissense 11/13 - 1
4-72618323-G-GCGC c.1306_1307insGCG p.T436delinsSA MultiAAMissense 11/13 - 1
4-72618323-G-T c.1307C>A p.T436K Missense 11/13 - 427
4-72618323-GT-AG c.1306_1307delinsCT p.T436L Missense 11/13 - 1
4-72618323-GT-TA c.1306_1307delinsTA p.T436* Nonsense 11/13 - 2
4-72618324-GT-G c.1306del p.T436Rfs*20 Frameshift 11/13 - 2
4-72618324-T-A c.1306A>T p.T436S Missense 11/13 - 7
4-72618324-T-C c.1306A>G p.T436A Missense 11/13 - 12
4-72618324-T-G c.1306A>C p.T436P Missense 11/13 - 2
4-72618324-T-TTCTGGGAGTACTGTGTGAGGGGGTCTCGGTAGTGGTGATTGAAGAAGTGAATCTGGGAGTACTGTGTGAAGCGGCCTCAGTGCTGATGATCGAAAAAGTGAAGCTGGAAGTCCTATGTGAGGTGGTCTCAGCAGTAGTAATTGAGGAAGTGAAG c.1305_1306insCTTCACTTCCTCAATTACTACTGCTGAGACCACCTCACATAGGACTTCCAGCTTCACTTTTTCGATCATCAGCACTGAGGCCGCTTCACACAGTACTCCCAGATTCACTTCTTCAATCACCACTACCGAGACCCCCTCACACAGTACTCCCAGA p.T436Lfs*9 Frameshift 11/13 - 1
4-72618324-T-TTCTGGGAGTACTGTGTGAGGGGGTCTCGGTAGTGGTGATTGAAGAAGTGAATCTGGGAGTACTGTGTGAAGCGGCCTCAGTGCTGATGATCGAAGAAGTGAAGCTGGAAGTCCTATGTGAGGTGGTCTCAGCAGTAGTAATTGAGGAAGTGAAG c.1305_1306insCTTCACTTCCTCAATTACTACTGCTGAGACCACCTCACATAGGACTTCCAGCTTCACTTCTTCGATCATCAGCACTGAGGCCGCTTCACACAGTACTCCCAGATTCACTTCTTCAATCACCACTACCGAGACCCCCTCACACAGTACTCCCAGA p.T436Lfs*9 Frameshift 11/13 - 1
4-72618324-T-TTCTGGGAGTACTGTGTGAGGGGGTCTCGGTAGTGGTGATTGAAGAAGTGAATCTGGGAGTACTGTGTGTGGCGTTCTCAGTGGTGGTGATCGAAAAAGTGAAGCTGGAAGTCCTATGTGAGGTGGTCTCAGCAGTAGTAATTGAGGAAGTGAAG c.1305_1306insCTTCACTTCCTCAATTACTACTGCTGAGACCACCTCACATAGGACTTCCAGCTTCACTTTTTCGATCACCACCACTGAGAACGCCACACACAGTACTCCCAGATTCACTTCTTCAATCACCACTACCGAGACCCCCTCACACAGTACTCCCAGA p.T436Lfs*9 Frameshift 11/13 - 1
4-72618325-G-A c.1305C>T p.P435= Synonymous 11/13 - 8
4-72618325-G-C c.1305C>G p.P435= Synonymous 11/13 - 4
4-72618325-GG-AGCCACTTCAGCA c.1304_1305delinsTGCTGAAGTGGCT p.P435Lfs*25 Frameshift 11/13 - 1
4-72618325-GG-TT c.1304_1305delinsAA p.P435Q Missense 11/13 - 1
4-72618325-G-T c.1305C>A p.P435= Synonymous 11/13 - 7
4-72618324-TGG-T c.1304_1305del p.P435Hfs*8 Frameshift 11/13 - 1
4-72618326-G-A c.1304C>T p.P435L Missense 11/13 - 9
4-72618326-G-C c.1304C>G p.P435R Missense 11/13 - 1
4-72618326-GGGTGTGGCATCAGGCAAT-G c.1287_1304del p.K429_P435delinsN MultiAAMissense 11/13 - 1
4-72618326-G-T c.1304C>A p.P435H Missense 11/13 - 5
4-72618324-TG-T c.1305del p.T436Rfs*20 Frameshift 11/13 - 2
4-72618324-T-TG c.1305dup p.T436Hfs*8 Frameshift 11/13 - 3
4-72618327-G-A c.1303C>T p.P435S Missense 11/13 - 16
4-72618327-G-C c.1303C>G p.P435A Missense 11/13 - 3
4-72618327-G-T c.1303C>A p.P435T Missense 11/13 - 3
4-72618328-GT-G c.1302del p.T436Rfs*20 Frameshift 11/13 - 1
4-72618328-T-A c.1302A>T p.T434= Synonymous 11/13 - 5
4-72618328-T-C c.1302A>G p.T434= Synonymous 11/13 - 9
4-72618328-T-G c.1302A>C p.T434= Synonymous 11/13 - 4
4-72618328-TG-CA c.1301_1302inv p.T434M Missense 11/13 - 2
4-72618328-TG-GT c.1301_1302delinsAC p.T434N Missense 11/13 - 2
4-72618328-T-TA c.1301_1302insT p.P435Tfs*9 Frameshift 11/13 - 1
4-72618328-T-TG c.1301dup p.P435Tfs*9 Frameshift 11/13 - 1
4-72618329-G-A c.1301C>T p.T434I Missense 11/13 - 5
4-72618329-G-C c.1301C>G p.T434R Missense 11/13 - 3
4-72618329-G-T c.1301C>A p.T434K Missense 11/13 - 2
4-72618329-GT-TA c.1300_1301delinsTA p.T434* Nonsense 11/13 - 1
4-72618326-GGT-G c.1302_1303del p.P435Hfs*8 Frameshift 11/13 - 1
4-72618329-G-GTTTTGGTTCTTC c.1300_1301insGAAGAACCAAAA p.A433_T434insRRTK InFrameInsertion 11/13 - 1
4-72618330-GT-G c.1300del p.T434Hfs*22 Frameshift 11/13 - 1
4-72618330-T-A c.1300A>T p.T434S Missense 11/13 - 2
4-72618330-T-C c.1300A>G p.T434A Missense 11/13 - 5
4-72618330-T-G c.1300A>C p.T434P Missense 11/13 - 2
4-72618330-T-TGA c.1299_1300insTC p.T434Sfs*23 Frameshift 11/13 - 1
4-72618331-G-A c.1299C>T p.A433= Synonymous 11/13 - 12
4-72618331-G-C c.1299C>G p.A433= Synonymous 11/13 - 5
4-72618331-G-T c.1299C>A p.A433= Synonymous 11/13 - 7
4-72618330-TG-T c.1299del p.T434Hfs*22 Frameshift 11/13 - 1
4-72618330-T-TG c.1299dup p.T434Hfs*10 Frameshift 11/13 - 1
4-72618332-G-A c.1298C>T p.A433V Missense 11/13 - 7
4-72618332-G-C c.1298C>G p.A433G Missense 11/13 - 6
4-72618332-GCATCAGGCAATTTTGCTTTTA-TGT c.1277_1298delinsACA p.L426Hfs*24 Frameshift 11/13 - 1
4-72618332-GC-CA c.1297_1298delinsTG p.A433C Missense 11/13 - 2
4-72618332-G-T c.1298C>A p.A433D Missense 11/13 - 3
4-72618331-G-GGCC c.1298_1299insGGC p.A433dup InFrameInsertion 11/13 - 1
4-72618332-G-GC c.1297dup p.A433Gfs*11 Frameshift 11/13 - 1
4-72618333-C-A c.1297G>T p.A433S Missense 11/13 - 3
4-72618333-C-CGTAGTTTTGTTGTTTTTGTGTCGTTCGCAT c.1296_1297insATGCGAACGACACAAAAACAACAAAACTAC p.D432_A433insMRTTQKQQNY InFrameInsertion 11/13 - 1
4-72618333-C-G c.1297G>C p.A433P Missense 11/13 - 5
4-72618333-C-T c.1297G>A p.A433T Missense 11/13 - 7
4-72618333-GC-G c.1297del p.A433Pfs*23 Frameshift 11/13 - 1
4-72618333-C-CA c.1296dup p.A433Cfs*11 Frameshift 11/13 - 1
4-72618334-A-C c.1296T>G p.D432E Missense 11/13 - 495
4-72618334-A-G c.1296T>C p.D432= Synonymous 11/13 - 9
4-72618334-A-T c.1296T>A p.D432E Missense 11/13 - 484
4-72618334-ATC-TTA c.1294_1296delinsTAA p.D432* Nonsense 11/13 - 2
4-72618334-CA-C c.1296del p.D432Efs*24 Frameshift 11/13 - 1
4-72618334-CAT-C c.1295_1296del p.D432Gfs*11 Frameshift 11/13 - 1
4-72618334-CATCAGGCAATTTTGCTTTTAGTCGCTCTGCCAGTCTGAAAAACCATTTAAATGTAAGGT-C c.1263-25_1296del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/13 10/12 1
4-72618334-A-AT c.1295dup p.D432Efs*12 Frameshift 11/13 - 2
4-72618335-AT-A c.1295del p.D432Vfs*24 Frameshift 11/13 - 1
4-72618335-T-A c.1295A>T p.D432V Missense 11/13 - 2
4-72618335-T-C c.1295A>G p.D432G Missense 11/13 - 4
4-72618335-TC-AA c.1294_1295delinsTT p.D432F Missense 11/13 - 1
4-72618335-TC-CG c.1294_1295delinsCG p.D432R Missense 11/13 - 1
4-72618335-T-G c.1295A>C p.D432A Missense 11/13 - 4
4-72618335-T-TC c.1294dup p.D432Gfs*12 Frameshift 11/13 - 2
4-72618336-C-A c.1294G>T p.D432Y Missense 11/13 - 2
4-72618336-C-CG c.1293_1294insC p.D432Rfs*12 Frameshift 11/13 - 1
4-72618336-C-G c.1294G>C p.D432H Missense 11/13 - 4
4-72618336-C-T c.1294G>A p.D432N Missense 11/13 - 12
4-72618336-TC-T c.1294del p.D432Mfs*24 Frameshift 11/13 - 2
4-72618336-C-CA c.1293dup p.D432* Nonsense 11/13 - 2
4-72618337-A-C c.1293T>G p.P431= Synonymous 11/13 - 7
4-72618337-A-G c.1293T>C p.P431= Synonymous 11/13 - 8
4-72618337-A-T c.1293T>A p.P431= Synonymous 11/13 - 6
4-72618337-CA-C c.1293del p.D432Mfs*24 Frameshift 11/13 - 1
4-72618337-CAG-C c.1292_1293del p.P431Rfs*12 Frameshift 11/13 - 2
4-72618337-CAGG-C c.1291_1293del p.P431del InFrameDeletion 11/13 - 2
4-72618338-G-A c.1292C>T p.P431L Missense 11/13 - 7
4-72618338-G-C c.1292C>G p.P431R Missense 11/13 - 1
4-72618338-GG-AA c.1291_1292delinsTT p.P431F Missense 11/13 - 2
4-72618338-G-GC c.1291_1292insG p.P431Rfs*2 Frameshift 11/13 - 1
4-72618338-GG-TT c.1291_1292delinsAA p.P431N Missense 11/13 - 1
4-72618338-G-T c.1292C>A p.P431H Missense 11/13 - 1
4-72618337-A-AG c.1292dup p.D432* Nonsense 11/13 - 1
4-72618337-AG-A c.1292del p.P431Lfs*25 Frameshift 11/13 - 3
4-72618339-G-A c.1291C>T p.P431S Missense 11/13 - 6
4-72618339-G-C c.1291C>G p.P431A Missense 11/13 - 1
4-72618339-GGC-G c.1290_1291del p.L430Ffs*2 Frameshift 11/13 - 1
4-72618339-G-T c.1291C>A p.P431T Missense 11/13 - 5
4-72618340-C-A c.1290G>T p.L430F Missense 11/13 - 8
4-72618340-C-G c.1290G>C p.L430F Missense 11/13 - 6
4-72618341-AA-CC c.1288_1289delinsGG p.L430G Missense 11/13 - 1
4-72618341-AA-CT c.1288_1289delinsAG p.L430R Missense 11/13 - 2
4-72618341-AA-GC c.1288_1289delinsGC p.L430A Missense 11/13 - 1
4-72618341-AA-GG c.1288_1289delinsCC p.L430P Missense 11/13 - 3
4-72618341-AA-TG c.1288_1289delinsCA p.L430Q Missense 11/13 - 1
4-72618341-A-G c.1289T>C p.L430S Missense 11/13 - 1
4-72618341-A-T c.1289T>A p.L430* Nonsense 11/13 - 3
4-72618341-CAA-C c.1288_1289del p.L430Afs*2 Frameshift 11/13 - 1
4-72618340-CA-C c.1289del p.L430Cfs*26 Frameshift 11/13 - 1
4-72618340-C-CA c.1289dup p.L430Ffs*3 Frameshift 11/13 - 1
4-72618340-C-T c.1290G>A p.L430= Synonymous 11/13 - 6
4-72618342-AATTTTGCTTTTAGTC-A c.1274_1288del p.R425_K429del InFrameDeletion 11/13 - 1
4-72618342-A-C c.1288T>G p.L430V Missense 11/13 - 3
4-72618342-A-G c.1288T>C p.L430= Synonymous 11/13 - 6
4-72618342-A-T c.1288T>A p.L430M Missense 11/13 - 1
4-72618342-A-ATATCTTTTTCTCCTGCTCCCG c.1287_1288insCGGGAGCAGGAGAAAAAGATA p.K429_L430insREQEKKI InFrameInsertion 11/13 - 1
4-72618343-T-A c.1287A>T p.K429N Missense 11/13 - 5
4-72618343-T-C c.1287A>G p.K429= Synonymous 11/13 - 8
4-72618343-T-G c.1287A>C p.K429N Missense 11/13 - 2
4-72618343-TT-CA c.1286_1287delinsTG p.K429M Missense 11/13 - 1
4-72618343-TT-GC c.1286_1287delinsGC p.K429S Missense 11/13 - 1
4-72618342-ATTTTGCTTTTAG-A c.1276_1287del p.K427_L430del InFrameDeletion 11/13 - 2
4-72618344-T-A c.1286A>T p.K429I Missense 11/13 - 3
4-72618344-T-C c.1286A>G p.K429R Missense 11/13 - 5
4-72618344-T-G c.1286A>C p.K429T Missense 11/13 - 3
4-72618344-TT-CC c.1285_1286delinsGG p.K429G Missense 11/13 - 1
4-72618342-ATT-A c.1286_1287del p.K429Ifs*3 Frameshift 11/13 - 2
4-72618345-T-A c.1285A>T p.K429* Nonsense 11/13 - 1
4-72618345-T-C c.1285A>G p.K429E Missense 11/13 - 7
4-72618345-T-G c.1285A>C p.K429Q Missense 11/13 - 3
4-72618342-A-AT c.1287dup p.L430Ifs*3 Frameshift 11/13 - 2
4-72618342-AT-A c.1287del p.K429Nfs*27 Frameshift 11/13 - 3
4-72618346-T-A c.1284A>T p.A428= Synonymous 11/13 - 5
4-72618346-T-C c.1284A>G p.A428= Synonymous 11/13 - 9
4-72618346-T-G c.1284A>C p.A428= Synonymous 11/13 - 5
4-72618346-TGC-GTT c.1282_1284delinsAAC p.A428N Missense 11/13 - 2
4-72618342-ATTTTGC-A c.1282_1287del p.A428_K429del InFrameDeletion 11/13 - 1
4-72618344-TTTGC-T c.1282_1285del p.A428Nfs*27 Frameshift 11/13 - 1
4-72618345-TTGC-T c.1282_1284del p.A428del InFrameDeletion 11/13 - 2
4-72618346-T-TG c.1283dup p.L430Ifs*3 Frameshift 11/13 - 2
4-72618347-G-A c.1283C>T p.A428V Missense 11/13 - 8
4-72618347-G-C c.1283C>G p.A428G Missense 11/13 - 7
4-72618347-GC-AG c.1282_1283delinsCT p.A428L Missense 11/13 - 2
4-72618347-GC-TT c.1282_1283delinsAA p.A428K Missense 11/13 - 1
4-72618347-G-T c.1283C>A p.A428E Missense 11/13 - 6
4-72618347-TGCTTTTAGTCGCTCTGCC-T c.1266_1283del p.A423_A428del InFrameDeletion 11/13 - 1
4-72618347-TG-T c.1283del p.A428Efs*28 Frameshift 11/13 - 1
4-72618347-G-GC c.1282dup p.A428Gfs*5 Frameshift 11/13 - 1
4-72618348-C-A c.1282G>T p.A428S Missense 11/13 - 4
4-72618348-C-G c.1282G>C p.A428P Missense 11/13 - 2
4-72618348-C-T c.1282G>A p.A428T Missense 11/13 - 9
4-72618348-GCT-G c.1281_1282del p.K427Nfs*5 Frameshift 11/13 - 1
4-72618348-GCTTTTA-G c.1277_1282del p.L426_A428delinsP MultiAAMissense 11/13 - 1
4-72618349-T-A c.1281A>T p.K427N Missense 11/13 - 4
4-72618349-T-C c.1281A>G p.K427= Synonymous 11/13 - 9
4-72618349-T-G c.1281A>C p.K427N Missense 11/13 - 7
4-72618349-T-TCCTGCTGTAACCTCTTC c.1280_1281insGAAGAGGTTACAGCAGG p.A428Kfs*34 Frameshift 11/13 - 1
4-72618348-CTTT-C c.1279_1281del p.K427del InFrameDeletion 11/13 - 2
4-72618350-T-A c.1280A>T p.K427I Missense 11/13 - 1
4-72618350-T-C c.1280A>G p.K427R Missense 11/13 - 5
4-72618350-T-G c.1280A>C p.K427T Missense 11/13 - 1
4-72618350-TT-GC c.1279_1280delinsGC p.K427A Missense 11/13 - 1
4-72618351-T-A c.1279A>T p.K427* Nonsense 11/13 - 2
4-72618351-T-C c.1279A>G p.K427E Missense 11/13 - 7
4-72618351-T-G c.1279A>C p.K427Q Missense 11/13 - 5
4-72618351-T-TA c.1278_1279insT p.K427* Nonsense 11/13 - 1
4-72618351-T-TC c.1278_1279insG p.K427Efs*6 Frameshift 11/13 - 1
4-72618348-C-CT c.1281dup p.A428Sfs*5 Frameshift 11/13 - 1
4-72618348-CT-C c.1281del p.A428Qfs*28 Frameshift 11/13 - 2
4-72618352-T-A c.1278A>T p.L426= Synonymous 11/13 - 3
4-72618352-TAG-AAA c.1276_1278delinsTTT p.L426F Missense 11/13 - 1
4-72618352-TAG-CAT c.1276_1278delinsATG p.L426M Missense 11/13 - 1
4-72618352-TAGTCGCTCTGCCAG-GAGTGTGCT c.1264_1278delinsAGCACACTC p.L422_R425delinsST SpliceAcceptorBlockSubstitution 11/13 - 1
4-72618352-T-C c.1278A>G p.L426= Synonymous 11/13 - 9
4-72618352-T-G c.1278A>C p.L426= Synonymous 11/13 - 4
4-72618352-TTAGTCGCTCTGC-T c.1267_1278del p.A423_L426del InFrameDeletion 11/13 - 1
4-72618352-TTAGTCG-T c.1273_1278del p.R425_L426del InFrameDeletion 11/13 - 1
4-72618351-TTAGTCGCTC-T c.1270_1278del p.E424_L426del InFrameDeletion 11/13 - 1
4-72618352-T-TA c.1277dup p.A428Sfs*5 Frameshift 11/13 - 1
4-72618353-A-ATGTC c.1276_1277insGACA p.L426Rfs*8 Frameshift 11/13 - 1
4-72618353-A-C c.1277T>G p.L426R Missense 11/13 - 1
4-72618353-A-G c.1277T>C p.L426P Missense 11/13 - 7
4-72618353-AG-GC c.1276_1277delinsGC p.L426A Missense 11/13 - 1
4-72618353-AG-GT c.1276_1277delinsAC p.L426T Missense 11/13 - 1
4-72618353-A-T c.1277T>A p.L426Q Missense 11/13 - 1
4-72618353-TAGTCGC-T c.1272_1277del p.R425_L426del InFrameDeletion 11/13 - 1
4-72618353-TA-T c.1277del p.L426Qfs*30 Frameshift 11/13 - 2
4-72618354-AG-A c.1276del p.L426* Frameshift 11/13 - 1
4-72618354-G-A c.1276C>T p.L426= Synonymous 11/13 - 9
4-72618354-G-C c.1276C>G p.L426V Missense 11/13 - 3
4-72618354-G-GA c.1275_1276insT p.L426Sfs*7 Frameshift 11/13 - 1
4-72618354-G-T c.1276C>A p.L426I Missense 11/13 - 5
4-72618354-G-GT c.1275dup p.L426Tfs*7 Frameshift 11/13 - 1
4-72618355-GTCGCTCTGCCAGTCTGAAAAACCATTTAAATGTAAGGTCTTACTACATGTATTTATTTT-G c.1263-46_1275del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/13 10/12 1
4-72618355-GT-G c.1275del p.L426* Frameshift 11/13 - 1
4-72618355-T-A c.1275A>T p.R425= Synonymous 11/13 - 5
4-72618355-T-C c.1275A>G p.R425= Synonymous 11/13 - 8
4-72618355-TC-AT c.1274_1275delinsAT p.R425H Missense 11/13 - 4
4-72618355-TCG-ACA c.1273_1275delinsTGT p.R425C Missense 11/13 - 5
4-72618355-TCG-CCA c.1273_1275delinsTGG p.R425W Missense 11/13 - 1
4-72618355-TCGCTCTGCCAG-AGTGAT c.1264_1275delinsATCACT p.L422_R425delinsIT SpliceAcceptorBlockSubstitution 11/13 - 1
4-72618355-TCG-GCT c.1273_1275delinsAGC p.R425S Missense 11/13 - 1
4-72618355-T-G c.1275A>C p.R425= Synonymous 11/13 - 2
4-72618355-T-TGC c.1274_1275insGC p.L426Hfs*2 Frameshift 11/13 - 2
4-72618354-GTCGCTC-G c.1270_1275del p.E424_R425del InFrameDeletion 11/13 - 1
4-72618355-T-TC c.1274dup p.L426Tfs*7 Frameshift 11/13 - 1
4-72618356-C-A c.1274G>T p.R425L Missense 11/13 - 3
4-72618356-C-CT c.1273_1274insA p.R425Qfs*8 Frameshift 11/13 - 1
4-72618356-C-G c.1274G>C p.R425P Missense 11/13 - 3
4-72618356-CG-GC c.1273_1274delinsGC p.R425A Missense 11/13 - 1
4-72618356-CG-TT c.1273_1274delinsAA p.R425K Missense 11/13 - 2
4-72618356-C-T c.1274G>A p.R425Q Missense 11/13 - 9
4-72618354-GTCGC-G c.1272_1275del p.E424Dfs*2 Frameshift 11/13 - 1
4-72618356-C-CG c.1273dup p.R425Pfs*8 Frameshift 11/13 - 1
4-72618356-C-CGT c.1273_1274insAC p.R425Hfs*3 Frameshift 11/13 - 1
4-72618357-CG-C c.1273del p.R425Dfs*2 Frameshift 11/13 - 1
4-72618357-CGCT-C c.1271_1273del p.E424_R425delinsG MultiAAMissense 11/13 - 1
4-72618357-G-A c.1273C>T p.R425* Nonsense 11/13 - 13
4-72618357-G-C c.1273C>G p.R425G Missense 11/13 - 6
4-72618357-G-T c.1273C>A p.R425= Synonymous 11/13 - 5
4-72618358-C-A c.1272G>T p.E424D Missense 11/13 - 3
4-72618358-C-G c.1272G>C p.E424D Missense 11/13 - 3
4-72618358-C-T c.1272G>A p.E424= Synonymous 11/13 - 9
4-72618356-C-CGCTA c.1273_1274insTAGC p.R425Lfs*9 Frameshift 11/13 - 1
4-72618359-CT-C c.1271del p.E424Gfs*3 Frameshift 11/13 - 1
4-72618359-T-A c.1271A>T p.E424V Missense 11/13 - 1
4-72618359-T-C c.1271A>G p.E424G Missense 11/13 - 8
4-72618359-T-G c.1271A>C p.E424A Missense 11/13 - 2
4-72618359-T-TC c.1270dup p.E424Gfs*9 Frameshift 11/13 - 1
4-72618360-C-A c.1270G>T p.E424* Nonsense 11/13 - 8
4-72618360-C-CA c.1269_1270insT p.E424* Nonsense 11/13 - 1
4-72618360-C-G c.1270G>C p.E424Q Missense 11/13 - 2
4-72618360-C-T c.1270G>A p.E424K Missense 11/13 - 7
4-72618360-TC-T c.1270del p.E424Sfs*3 Frameshift 11/13 - 1
4-72618359-TCTGC-T c.1267_1270del p.A423Sfs*3 Frameshift 11/13 - 1
4-72618360-C-CT c.1269dup p.E424Rfs*9 Frameshift 11/13 - 1
4-72618360-C-CTATTGAAGAAGTGAATCTGGGAGTACTGTGTGAAGCGGCCTCAGTGCTGATGATCGAAGAAGTGAAGGGGGGAGTACTATGTGACCTGGAATCAGTGATGCTG c.1269_1270insCAGCATCACTGATTCCAGGTCACATAGTACTCCCCCCTTCACTTCTTCGATCATCAGCACTGAGGCCGCTTCACACAGTACTCCCAGATTCACTTCTTCAATA p.E424Qfs*4 Frameshift 11/13 - 1
4-72618361-CT-C c.1269del p.E424Sfs*3 Frameshift 11/13 - 1
4-72618361-T-A c.1269A>T p.A423= Synonymous 11/13 - 5
4-72618361-T-C c.1269A>G p.A423= Synonymous 11/13 - 8
4-72618361-T-G c.1269A>C p.A423= Synonymous 11/13 - 4
4-72618361-TGC-ACA c.1267_1269delinsTGT p.A423C Missense 11/13 - 1
4-72618361-TG-GT c.1268_1269delinsAC p.A423D Missense 11/13 - 2
4-72618361-T-TCCGCCGCCGCCG c.1268_1269insCGGCGGCGGCGG p.A423_E424insGGGG InFrameInsertion 11/13 - 1
4-72618361-T-TG c.1268dup p.E424Rfs*9 Frameshift 11/13 - 2
4-72618362-G-A c.1268C>T p.A423V Missense 11/13 - 11
4-72618362-G-C c.1268C>G p.A423G Missense 11/13 - 3
4-72618362-GC-AG c.1267_1268delinsCT p.A423L Missense 11/13 - 2
4-72618362-G-GTTGAAGAAGTGAATCTGGGAGTACTGTGTGAGGGGGTCTCGGTGGTGGCGAT c.1267_1268insATCGCCACCACCGAGACCCCCTCACACAGTACTCCCAGATTCACTTCTTCAA p.A423Dfs*27 Frameshift 11/13 - 1
4-72618362-G-T c.1268C>A p.A423E Missense 11/13 - 1
4-72618362-TG-T c.1268del p.A423Efs*4 Frameshift 11/13 - 1
4-72618362-G-GCAAACAAAAATTCTGCCT c.1267_1268insAGGCAGAATTTTTGTTTG p.L422_A423insEAEFLF InFrameInsertion 11/13 - 1
4-72618363-C-A c.1267G>T p.A423S Missense 11/13 - 3
4-72618363-C-G c.1267G>C p.A423P Missense 11/13 - 3
4-72618363-C-T c.1267G>A p.A423T Missense 11/13 - 16
4-72618363-GCCAGTCTGAAAAACCATTTAAATGTAAGGTCTTACTACATGTATTTATTTTATACAAAT-G c.1263-54_1267del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/13 10/12 1
4-72618362-GC-G c.1267del p.A423Qfs*4 Frameshift 11/13 - 3
4-72618362-G-GC c.1267dup p.A423Gfs*10 Frameshift 11/13 - 1
4-72618364-C-A c.1266G>T p.L422= Synonymous 11/13 - 2
4-72618364-CAG-AAA c.1264_1266delinsTTT p.L422F Missense 11/13 - 2
4-72618364-CCA-C c.1265_1266del p.L422Rfs*10 Frameshift 11/13 - 1
4-72618364-C-CT c.1265_1266insA p.A423Gfs*10 Frameshift 11/13 - 1
4-72618364-C-G c.1266G>C p.L422= Synonymous 11/13 - 4
4-72618364-C-T c.1266G>A p.L422= Synonymous 11/13 - 11
4-72618365-A-AAAGAAGTGAATCTGGGAGTACTGTGTGAAGCGGCCTCAGTGCTGATGATCGAAGAAGTGAAGCTGGGATTACTCTGTGAGGTGGTCTTGGTACTGGCAATCAC c.1264_1265insGTGATTGCCAGTACCAAGACCACCTCACAGAGTAATCCCAGCTTCACTTCTTCGATCATCAGCACTGAGGCCGCTTCACACAGTACTCCCAGATTCACTTCTT p.L422Rfs*12 SpliceAcceptorInsertion 11/13 - 1
4-72618365-A-AC c.1264_1265insG p.L422Rfs*11 SpliceAcceptorInsertion 11/13 - 1
4-72618365-A-C c.1265T>G p.L422R Missense 11/13 - 2
4-72618365-A-G c.1265T>C p.L422P Missense 11/13 - 7
4-72618365-AG-GT c.1264_1265delinsAC p.L422T Missense 11/13 - 1
4-72618365-AG-TA c.1264_1265delinsTA p.L422* Nonsense 11/13 - 1
4-72618365-AG-TT c.1264_1265delinsAA p.L422K Missense 11/13 - 1
4-72618365-CA-C c.1265del p.L422Rfs*5 Frameshift 11/13 - 1
4-72618365-CAG-C c.1264_1265del p.L422Gfs*10 SpliceAcceptorDeletion 11/13 - 1
4-72618365-CAGTCTGAAAAACCATTTAAATGTAAGGTCTTACTACATGTATTTATTTTATACAAATTT-C c.1263-56_1265del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/13 10/12 1
4-72618364-C-CAGCTCG c.1265_1266insCGAGCT p.L422_A423insEL SpliceAcceptorInsertion 11/13 - 1
4-72618365-A-AG c.1264dup p.L422Pfs*11 SpliceAcceptorInsertion 11/13 - 2
4-72618365-A-AGAG c.1264_1265insCTC p.K421_L422insP SpliceAcceptorInsertion 11/13 - 1
4-72618366-G-A c.1264C>T p.L422= Synonymous 11/13 - 11
4-72618366-G-C c.1264C>G p.L422V Missense 11/13 - 1
4-72618366-G-GA c.1263_1264insT p.L422Sfs*11 SpliceAcceptorInsertion 11/13 - 1
4-72618366-G-GC c.1263_1264insG p.L422Afs*11 SpliceAcceptorInsertion 11/13 - 1
4-72618366-G-T c.1264C>A p.L422M Missense 11/13 - 1
4-72618366-G-GT c.1263dup p.L422Tfs*11 SpliceAcceptorInsertion - - 1
4-72618367-GT-G c.1263del p.K421Nfs*6 Frameshift 11/13 - 4
4-72618367-T-A c.1263A>T p.K421N Missense 11/13 - 4
4-72618367-T-C c.1263A>G p.K421= Synonymous 11/13 - 7
4-72618367-T-G c.1263A>C p.K421N Missense 11/13 - 1
4-72618412-T-G c.1263-45A>C - IntronicSNV - 10/12 1
4-72618985-G-C c.1263-618C>G - IntronicSNV - 10/12 1
4-72619428-T-C c.1262+700A>G - IntronicSNV - 10/12 1
4-72619680-ATGGC-A c.1262+444_1262+447del - IntronicDeletion - 10/12 1
4-72619996-A-C c.1262+132T>G - IntronicSNV - 10/12 1
4-72620127-C-CG c.1262_1262+1insC p.K421Nfs*12 SpliceDonorInsertion - - 1
4-72620128-T-A c.1262A>T p.K421I Missense 10/13 - 3
4-72620128-T-C c.1262A>G p.K421R Missense 10/13 - 7
4-72620128-T-G c.1262A>C p.K421T Missense 10/13 - 3
4-72620129-T-A c.1261A>T p.K421* Nonsense 10/13 - 2
4-72620129-T-C c.1261A>G p.K421E Missense 10/13 - 5
4-72620129-T-G c.1261A>C p.K421Q Missense 10/13 - 3
4-72620129-T-TA c.1260_1261insT p.K421* SpliceDonorInsertion 10/13 - 3
4-72620129-T-TC c.1260_1261insG p.K421Efs*12 SpliceDonorInsertion 10/13 - 2
4-72620129-T-TG c.1260_1261insC p.K421Qfs*12 SpliceDonorInsertion 10/13 - 2
4-72620129-TTTTCTTGTACTCAGTAA-CC c.1244_1261delinsGG p.F415Wfs*7 SpliceDonorBlockSubstitution 10/13 - 1
4-72620127-CTTT-C c.1260_1262del p.K421del InFrameDeletion 10/13 - 1
4-72620128-TTTTTCTTG-T c.1254_1261del p.Y418* SpliceDonorDeletion 10/13 - 1
4-72620130-T-A c.1260A>T p.K420N Missense 10/13 - 3
4-72620130-T-C c.1260A>G p.K420= Synonymous 10/13 - 6
4-72620130-T-G c.1260A>C p.K420N Missense 10/13 - 4
4-72620127-CTT-C c.1261_1262del p.K421Tfs*11 SpliceDonorDeletion 10/13 - 2
4-72620131-T-A c.1259A>T p.K420I Missense 10/13 - 2
4-72620131-T-C c.1259A>G p.K420R Missense 10/13 - 7
4-72620131-T-G c.1259A>C p.K420T Missense 10/13 - 2
4-72620131-T-TC c.1258_1259insG p.K420Rfs*13 Frameshift 10/13 - 1
4-72620127-C-CT c.1262dup p.L422Tfs*11 Frameshift 10/13 - 3
4-72620127-CT-C c.1262del p.K421Nfs*6 Frameshift 10/13 - 4
4-72620132-T-C c.1258A>G p.K420E Missense 10/13 - 5
4-72620132-T-G c.1258A>C p.K420Q Missense 10/13 - 3
4-72620132-T-TA c.1257_1258insT p.K420* Nonsense 10/13 - 2
4-72620132-T-TGC c.1257_1258insGC p.K420Afs*8 Frameshift 10/13 - 1
4-72620132-T-TC c.1257dup p.K420Efs*13 Frameshift 10/13 - 1
4-72620133-C-A c.1257G>T p.K419N Missense 10/13 - 5
4-72620133-C-G c.1257G>C p.K419N Missense 10/13 - 2
4-72620133-C-T c.1257G>A p.K419= Synonymous 10/13 - 8
4-72620133-CT-GA c.1256_1257delinsTC p.K419I Missense 10/13 - 2
4-72620133-CT-GC c.1256_1257delinsGC p.K419S Missense 10/13 - 1
4-72620134-T-A c.1256A>T p.K419M Missense 10/13 - 2
4-72620134-T-C c.1256A>G p.K419R Missense 10/13 - 4
4-72620134-T-G c.1256A>C p.K419T Missense 10/13 - 6
4-72620134-TT-GC c.1255_1256delinsGC p.K419A Missense 10/13 - 2
4-72620132-TCTTGTA-T c.1252_1257del p.Y418_K419del InFrameDeletion 10/13 - 1
4-72620133-C-CT c.1256dup p.K420Efs*13 Frameshift 10/13 - 2
4-72620133-CT-C c.1256del p.K419Rfs*8 Frameshift 10/13 - 2
4-72620134-T-TTC c.1255_1256insGA p.K419Rfs*9 Frameshift 10/13 - 1
4-72620135-T-A c.1255A>T p.K419* Nonsense 10/13 - 2
4-72620135-T-C c.1255A>G p.K419E Missense 10/13 - 5
4-72620135-T-G c.1255A>C p.K419Q Missense 10/13 - 2
4-72620135-T-TG c.1254dup p.K419Qfs*14 Frameshift 10/13 - 1
4-72620136-G-A c.1254C>T p.Y418= Synonymous 10/13 - 3
4-72620136-G-C c.1254C>G p.Y418* Nonsense 10/13 - 3
4-72620136-G-T c.1254C>A p.Y418* Nonsense 10/13 - 2
4-72620136-TG-T c.1254del p.Y418* Frameshift 10/13 - 1
4-72620136-G-GT c.1253dup p.Y418* Nonsense 10/13 - 1
4-72620137-GTACTCAGTAAATGTATTTTCTGAATAATCTGCACATAGTTCTT-G c.1211_1253del p.Q404Pfs*9 Frameshift 10/13 - 1
4-72620137-T-A c.1253A>T p.Y418F Missense 10/13 - 1
4-72620137-T-C c.1253A>G p.Y418C Missense 10/13 - 6
4-72620137-T-G c.1253A>C p.Y418S Missense 10/13 - 3
4-72620136-GTACTCAGTAAATGTA-G c.1239_1253del p.T414_Y418del InFrameDeletion 10/13 - 1
4-72620137-T-TAGGGAGTACTGTGTGAGGGGGTCTCGGTGGTTGCGATTGAAGAAGAGAAGCC c.1252_1253insGGCTTCTCTTCTTCAATCGCAACCACCGAGACCCCCTCACACAGTACTCCCT p.Y418Wfs*32 Frameshift 10/13 - 1
4-72620138-A-AGGGAGTACTGTGTGAGGGGGTCTCGGTGGTTGCGATTGAAGAAGTGAAAATC c.1251_1252insGATTTTCACTTCTTCAATCGCAACCACCGAGACCCCCTCACACAGTACTCCC p.Y418Dfs*32 Frameshift 10/13 - 1
4-72620138-A-C c.1252T>G p.Y418D Missense 10/13 - 2
4-72620138-A-G c.1252T>C p.Y418H Missense 10/13 - 5
4-72620138-A-T c.1252T>A p.Y418N Missense 10/13 - 2
4-72620139-C-A c.1251G>T p.E417D Missense 10/13 - 5
4-72620139-C-G c.1251G>C p.E417D Missense 10/13 - 5
4-72620139-C-T c.1251G>A p.E417= Synonymous 10/13 - 10
4-72620140-T-A c.1250A>T p.E417V Missense 10/13 - 3
4-72620140-T-C c.1250A>G p.E417G Missense 10/13 - 7
4-72620140-T-G c.1250A>C p.E417A Missense 10/13 - 2
4-72620140-T-TC c.1249dup p.E417Gfs*16 Frameshift 10/13 - 1
4-72620140-T-TCG c.1249_1250insCG p.E417Afs*11 Frameshift 10/13 - 1
4-72620141-C-A c.1249G>T p.E417* Nonsense 10/13 - 2
4-72620141-C-CG c.1248_1249insC p.E417Rfs*16 Frameshift 10/13 - 1
4-72620141-C-G c.1249G>C p.E417Q Missense 10/13 - 2
4-72620141-C-T c.1249G>A p.E417K Missense 10/13 - 6
4-72620139-CTCAGTAAATGTATTT-C c.1236_1250del p.N413_E417del InFrameDeletion 10/13 - 1
4-72620141-C-CA c.1248dup p.E417* Nonsense 10/13 - 1
4-72620142-A-ACTGTCTAAGTAGTAACTCTGTACAAAGACCGCGTGGTCACTAAGGCACCTGACCCAAACATCACCTTCACCTTTACATTCCAACTGCCAAAACGTCCCCAAGACCTATCAATTCTGGTAGCCTACTGCTTTTAAACTCAACATCTTCGATTGGAGTCCTGCAGACACCCACCCAGAGTTTGTTTAGGTGGAGAAGTTTAAAAGCAGTAGGCTACCAGAATTGATAGGTCTTGGGGAAAAGCAGGCAGTTGGAATGTAAAGGTGAAGGTGATGTTTGGGTCAGGTGCCTTAGTGACCACGCGGTCTTTGTACAGAGTTACTACTTAGACAGCCCGCACCAGGCGCCTCTCAACTGTTCACTTTAAGATGTTGAAATGTACAGGATGTGAATTTCACAGGACTCCAATCCTACGTCGTGCTGAAATTCACATCCTGTACATTTCAACATCTTAAAGTGAACAGTTGAGAGGCGCCTGGTGCGGG c.1247_1248insCCCGCACCAGGCGCCTCTCAACTGTTCACTTTAAGATGTTGAAATGTACAGGATGTGAATTTCAGCACGACGTAGGATTGGAGTCCTGTGAAATTCACATCCTGTACATTTCAACATCTTAAAGTGAACAGTTGAGAGGCGCCTGGTGCGGGCTGTCTAAGTAGTAACTCTGTACAAAGACCGCGTGGTCACTAAGGCACCTGACCCAAACATCACCTTCACCTTTACATTCCAACTGCCTGCTTTTCCCCAAGACCTATCAATTCTGGTAGCCTACTGCTTTTAAACTTCTCCACCTAAACAAACTCTGGGTGGGTGTCTGCAGGACTCCAATCGAAGATGTTGAGTTTAAAAGCAGTAGGCTACCAGAATTGATAGGTCTTGGGGACGTTTTGGCAGTTGGAATGTAAAGGTGAAGGTGATGTTTGGGTCAGGTGCCTTAGTGACCACGCGGTCTTTGTACAGAGTTACTACTTAGACAG p.E417Pfs*11 Frameshift 10/13 - 1
4-72620142-A-C c.1248T>G p.T416= Synonymous 10/13 - 3
4-72620142-A-G c.1248T>C p.T416= Synonymous 10/13 - 6
4-72620142-AG-CA c.1247_1248delinsTG p.T416M Missense 10/13 - 1
4-72620142-AG-CC c.1247_1248delinsGG p.T416R Missense 10/13 - 1
4-72620142-AG-CT c.1247_1248inv p.T416K Missense 10/13 - 2
4-72620142-AGT-TTA c.1246_1248delinsTAA p.T416* Nonsense 10/13 - 1
4-72620142-A-T c.1248T>A p.T416= Synonymous 10/13 - 2
4-72620142-A-AG c.1247dup p.E417* Nonsense 10/13 - 1
4-72620143-AG-A c.1247del p.T416Mfs*11 Frameshift 10/13 - 2
4-72620143-G-A c.1247C>T p.T416I Missense 10/13 - 6
4-72620143-G-C c.1247C>G p.T416S Missense 10/13 - 5
4-72620143-G-T c.1247C>A p.T416N Missense 10/13 - 2
4-72620144-T-A c.1246A>T p.T416S Missense 10/13 - 4
4-72620143-G-GT c.1246dup p.T416Nfs*2 Frameshift 10/13 - 1
4-72620143-G-GTGAAGC c.1246_1247insGCTTCA p.F415_T416insSF InFrameInsertion 10/13 - 1
4-72620144-GT-G c.1246del p.T416Lfs*11 Frameshift 10/13 - 1
4-72620144-T-C c.1246A>G p.T416A Missense 10/13 - 4
4-72620144-T-G c.1246A>C p.T416P Missense 10/13 - 2
4-72620143-G-GTACTGTGTGAGGGGGTCTCGGTGGTTGCGATTGAAGAAGTGAAGCTAGGAGTACTGTGTGATATGGACTGAGTGGTC c.1246_1247insGACCACTCAGTCCATATCACACAGTACTCCTAGCTTCACTTCTTCAATCGCAACCACCGAGACCCCCTCACACAGTA p.T416Rfs*37 Frameshift 10/13 - 1
4-72620143-GTAAA-G c.1243_1246del p.F415Lfs*11 Frameshift 10/13 - 1
4-72620145-A-G c.1245T>C p.F415= Synonymous 10/13 - 9
4-72620144-TAA-T c.1244_1245del p.F415Yfs*2 Frameshift 10/13 - 1
4-72620146-AATG-C c.1241_1244delinsG p.T414_F415delinsS MultiAAMissense 10/13 - 1
4-72620146-A-G c.1244T>C p.F415S Missense 10/13 - 5
4-72620146-A-T c.1244T>A p.F415Y Missense 10/13 - 1
4-72620144-TA-T c.1245del p.F415Lfs*12 Frameshift 10/13 - 2
4-72620144-T-TA c.1245dup p.T416Yfs*2 Frameshift 10/13 - 1
4-72620145-A-C c.1245T>G p.F415L Missense 10/13 - 6
4-72620145-A-T c.1245T>A p.F415L Missense 10/13 - 5
4-72620146-A-AAACTTGAGTTTGAGCTTGAACTAGAACTTGAGCTTGAACTTGAACTAGAACTTGAGCTTGAACT c.1243_1244insAGTTCAAGCTCAAGTTCTAGTTCAAGTTCAAGCTCAAGTTCTAGTTCAAGCTCAAACTCAAGTT p.F415* Nonsense 10/13 - 1
4-72620147-A-G c.1243T>C p.F415L Missense 10/13 - 5
4-72620147-A-T c.1243T>A p.F415I Missense 10/13 - 2
4-72620146-A-AATTG c.1243_1244insCAAT p.F415Sfs*4 Frameshift 10/13 - 1
4-72620148-AT-A c.1242del p.F415Lfs*12 Frameshift 10/13 - 1
4-72620148-T-A c.1242A>T p.T414= Synonymous 10/13 - 3
4-72620148-T-C c.1242A>G p.T414= Synonymous 10/13 - 7
4-72620148-T-G c.1242A>C p.T414= Synonymous 10/13 - 3
4-72620148-TG-CA c.1241_1242inv p.T414M Missense 10/13 - 2
4-72620148-T-TG c.1241dup p.F415Ifs*3 Frameshift 10/13 - 2
4-72620149-G-A c.1241C>T p.T414I Missense 10/13 - 12
4-72620149-G-C c.1241C>G p.T414R Missense 10/13 - 4
4-72620149-G-GCAGTATGATAGCCAGACTTCTTCTGCATGGCAGTTACAGGGCAATCTTTATGAGCCAGAAGAAGCTGTTT c.1240_1241insAAACAGCTTCTTCTGGCTCATAAAGATTGCCCTGTAACTGCCATGCAGAAGAAGTCTGGCTATCATACTG p.T414Kfs*8 Frameshift 10/13 - 1
4-72620149-G-GGTGAGGGGGTCTCGGTGGTTGCGATTGAAGAAGTGAAGCTAGGAGTACTGTGTGAGATGATCTCGGTGGTGGCAATC c.1240_1241insGATTGCCACCACCGAGATCATCTCACACAGTACTCCTAGCTTCACTTCTTCAATCGCAACCACCGAGACCCCCTCAC p.T414Rfs*39 Frameshift 10/13 - 1
4-72620149-G-T c.1241C>A p.T414K Missense 10/13 - 5
4-72620149-GT-CC c.1240_1241delinsGG p.T414G Missense 10/13 - 7
4-72620149-G-GT c.1240dup p.T414Nfs*4 Frameshift 10/13 - 1
4-72620150-GT-G c.1240del p.T414Hfs*13 Frameshift 10/13 - 1
4-72620150-T-A c.1240A>T p.T414S Missense 10/13 - 4
4-72620150-T-C c.1240A>G p.T414A Missense 10/13 - 9
4-72620150-T-G c.1240A>C p.T414P Missense 10/13 - 3
4-72620150-T-TGCCCCCACCCCCGTACCG c.1239_1240insCGGTACGGGGGTGGGGGC p.N413_T414insRYGGGG InFrameInsertion 10/13 - 1
4-72620150-T-TTGAGGGGGTCTCGGTGGTTGCGATTGAAGAAGTGAAGCTAGGAGTACTGTGTGAGATGATCTCGGTGATGGCGATCA c.1239_1240insTGATCGCCATCACCGAGATCATCTCACACAGTACTCCTAGCTTCACTTCTTCAATCGCAACCACCGAGACCCCCTCA p.T414* Nonsense 10/13 - 1
4-72620151-A-ACGTCTGGTTGTGCGTTTGCAGGTGCATTAGCAGGTGCGTTT c.1238_1239insAAACGCACCTGCTAATGCACCTGCAAACGCACAACCAGACG p.N413Kfs*28 Frameshift 10/13 - 1
4-72620151-A-C c.1239T>G p.N413K Missense 10/13 - 5
4-72620151-A-G c.1239T>C p.N413= Synonymous 10/13 - 7
4-72620151-A-T c.1239T>A p.N413K Missense 10/13 - 3
4-72620151-ATT-TTA c.1237_1239delinsTAA p.N413* Nonsense 10/13 - 1
4-72620151-TA-T c.1239del p.N413Kfs*14 Frameshift 10/13 - 1
4-72620152-T-A c.1238A>T p.N413I Missense 10/13 - 1
4-72620152-T-C c.1238A>G p.N413S Missense 10/13 - 7
4-72620152-T-G c.1238A>C p.N413T Missense 10/13 - 1
4-72620152-T-TTGAAGATGTCAGTACGCCGCTCAGCCAACTGCTTCAAGCTGCTCTCAATATCCAGACCTGTACAGTCACAAATTTTTTTTTCAAGCAGAAGACGGCATACGAGCTACTTGATGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATC c.1237_1238insGATCGGAAGAGCACACGTCTGAACTCCAGTCACCATCAAGTAGCTCGTATGCCGTCTTCTGCTTGAAAAAAAAATTTGTGACTGTACAGGTCTGGATATTGAGAGCAGCTTGAAGCAGTTGGCTGAGCGGCGTACTGACATCTTCA p.N413Rfs*38 Frameshift 10/13 - 1
4-72620153-T-A c.1237A>T p.N413Y Missense 10/13 - 1
4-72620153-T-C c.1237A>G p.N413D Missense 10/13 - 3
4-72620153-T-G c.1237A>C p.N413H Missense 10/13 - 2
4-72620153-T-TA c.1236_1237insT p.N413* Nonsense 10/13 - 1
4-72620153-T-TCCCGCAGACGCTC c.1236_1237insGAGCGTCTGCGGG p.N413Efs*9 Frameshift 10/13 - 1
4-72620151-ATT-A c.1237_1238del p.N413Yfs*4 Frameshift 10/13 - 1
4-72620154-T-A c.1236A>T p.E412D Missense 10/13 - 4
4-72620154-T-C c.1236A>G p.E412= Synonymous 10/13 - 8
4-72620154-T-G c.1236A>C p.E412D Missense 10/13 - 4
4-72620154-TTC-GTT c.1234_1236delinsAAC p.E412N Missense 10/13 - 1
4-72620151-A-AT c.1238dup p.N413Kfs*5 Frameshift 10/13 - 2
4-72620151-AT-A c.1238del p.N413Ifs*14 Frameshift 10/13 - 3
4-72620155-T-A c.1235A>T p.E412V Missense 10/13 - 1
4-72620155-T-C c.1235A>G p.E412G Missense 10/13 - 7
4-72620155-T-G c.1235A>C p.E412A Missense 10/13 - 2
4-72620155-T-TC c.1234dup p.E412Gfs*6 Frameshift 10/13 - 1
4-72620156-C-A c.1234G>T p.E412* Nonsense 10/13 - 4
4-72620156-C-CA c.1233_1234insT p.E412* Nonsense 10/13 - 1
4-72620156-C-CCT c.1233_1234insAG p.E412Rfs*16 Frameshift 10/13 - 1
4-72620156-C-CGGCCAGGAGCACCAGCT c.1233_1234insAGCTGGTGCTCCTGGCC p.E412Sfs*21 Frameshift 10/13 - 1
4-72620156-C-G c.1234G>C p.E412Q Missense 10/13 - 1
4-72620156-C-T c.1234G>A p.E412K Missense 10/13 - 10
4-72620156-C-CT c.1233dup p.E412Rfs*6 Frameshift 10/13 - 1
4-72620157-CTG-C c.1232_1233del p.S411* Frameshift 10/13 - 1
4-72620157-T-A c.1233A>T p.S411= Synonymous 10/13 - 7
4-72620157-T-C c.1233A>G p.S411= Synonymous 10/13 - 8
4-72620157-T-G c.1233A>C p.S411= Synonymous 10/13 - 6
4-72620157-TG-AC c.1232_1233delinsGT p.S411C Missense 10/13 - 1
4-72620157-TGA-GTT c.1231_1233delinsAAC p.S411N Missense 10/13 - 1
4-72620157-T-TG c.1232dup p.E412Rfs*6 Frameshift 10/13 - 1
4-72620158-G-A c.1232C>T p.S411L Missense 10/13 - 10
4-72620158-G-C c.1232C>G p.S411* Nonsense 10/13 - 2
4-72620158-G-T c.1232C>A p.S411* Nonsense 10/13 - 5
4-72620158-TGAATAATCTGCACATAGTTCTTGTCCCTTGTCAATGAAAGAAGATAGTTCCTTCTTTAG-T c.1174_1232del p.L392Rfs*6 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 - 1
4-72620158-TGA-T c.1231_1232del p.S411Rfs*6 Frameshift 10/13 - 1
4-72620159-A-C c.1231T>G p.S411A Missense 10/13 - 5
4-72620159-A-G c.1231T>C p.S411P Missense 10/13 - 4
4-72620159-A-T c.1231T>A p.S411T Missense 10/13 - 5
4-72620159-GAA-G c.1230_1231del p.S411Rfs*6 Frameshift 10/13 - 1
4-72620158-GA-G c.1231del p.S411Qfs*16 Frameshift 10/13 - 1
4-72620158-G-GA c.1231dup p.S411Ffs*7 Frameshift 10/13 - 1
4-72620160-A-C c.1230T>G p.Y410* Nonsense 10/13 - 2
4-72620160-A-G c.1230T>C p.Y410= Synonymous 10/13 - 5
4-72620160-A-T c.1230T>A p.Y410* Nonsense 10/13 - 2
4-72620159-AAT-A c.1229_1230del p.Y410Ffs*7 Frameshift 10/13 - 1
4-72620160-A-AT c.1229dup p.Y410* Nonsense 10/13 - 1
4-72620161-AT-A c.1229del p.Y410Ffs*17 Frameshift 10/13 - 1
4-72620161-T-A c.1229A>T p.Y410F Missense 10/13 - 2
4-72620161-T-C c.1229A>G p.Y410C Missense 10/13 - 5
4-72620161-T-G c.1229A>C p.Y410S Missense 10/13 - 2
4-72620161-T-TTCC c.1228_1229insGGA p.Y410delinsWN MultiAAMissense 10/13 - 1
4-72620162-A-C c.1228T>G p.Y410D Missense 10/13 - 4
4-72620162-A-G c.1228T>C p.Y410H Missense 10/13 - 4
4-72620162-A-T c.1228T>A p.Y410N Missense 10/13 - 2
4-72620161-TA-T c.1228del p.Y410Ifs*17 Frameshift 10/13 - 1
4-72620161-T-TA c.1228dup p.Y410Lfs*8 Frameshift 10/13 - 1
4-72620163-AAT-A c.1226_1227del p.D409Vfs*8 Frameshift 10/13 - 1
4-72620163-AATCTGCACATAGTTCTTGTCCCTTGTCAATGAAAGAAGATAGTTCCTTCTTTAGTAGAG-A c.1169_1227del p.P390Lfs*8 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 - 1
4-72620163-A-C c.1227T>G p.D409E Missense 10/13 - 7
4-72620163-A-G c.1227T>C p.D409= Synonymous 10/13 - 8
4-72620163-A-T c.1227T>A p.D409E Missense 10/13 - 5
4-72620163-A-AT c.1226dup p.D409Efs*9 Frameshift 10/13 - 1
4-72620164-AT-A c.1226del p.D409Vfs*18 Frameshift 10/13 - 1
4-72620164-T-A c.1226A>T p.D409V Missense 10/13 - 24
4-72620164-T-C c.1226A>G p.D409G Missense 10/13 - 16
4-72620164-T-G c.1226A>C p.D409A Missense 10/13 - 3
4-72620163-ATC-A c.1225_1226del p.D409Lfs*8 Frameshift 10/13 - 2
4-72620164-T-TC c.1225dup p.D409Gfs*9 Frameshift 10/13 - 1
4-72620165-C-A c.1225G>T p.D409Y Missense 10/13 - 9
4-72620165-C-G c.1225G>C p.D409H Missense 10/13 - 29
4-72620165-C-T c.1225G>A p.D409N Missense 10/13 - 8
4-72620165-TC-T c.1225del p.D409Ifs*18 Frameshift 10/13 - 1
4-72620164-TCTGCACATAGTTCTTGTC-T c.1208_1225del p.G403_A408del InFrameDeletion 10/13 - 1
4-72620166-CT-C c.1224del p.D409Ifs*18 Frameshift 10/13 - 1
4-72620166-T-A c.1224A>T p.A408= Synonymous 10/13 - 8
4-72620166-T-C c.1224A>G p.A408= Synonymous 10/13 - 10
4-72620166-T-G c.1224A>C p.A408= Synonymous 10/13 - 5
4-72620166-TG-GT c.1223_1224delinsAC p.A408D Missense 10/13 - 1
4-72620166-T-TG c.1223dup p.D409Rfs*9 Frameshift 10/13 - 1
4-72620167-G-A c.1223C>T p.A408V Missense 10/13 - 10
4-72620167-G-C c.1223C>G p.A408G Missense 10/13 - 2
4-72620167-GC-AT c.1222_1223delinsAT p.A408I Missense 10/13 - 1
4-72620167-G-T c.1223C>A p.A408E Missense 10/13 - 2
4-72620167-G-GC c.1222dup p.A408Gfs*10 Frameshift 10/13 - 2
4-72620168-C-A c.1222G>T p.A408S Missense 10/13 - 3
4-72620168-C-CG c.1221_1222insC p.A408Rfs*10 Frameshift 10/13 - 1
4-72620168-C-T c.1222G>A p.A408T Missense 10/13 - 14
4-72620168-C-CA c.1221dup p.A408Cfs*10 Frameshift 10/13 - 1
4-72620169-A-C c.1221T>G p.C407W Missense 10/13 - 5
4-72620169-A-G c.1221T>C p.C407= Synonymous 10/13 - 6
4-72620169-A-T c.1221T>A p.C407* Nonsense 10/13 - 3
4-72620169-CA-C c.1221del p.C407Wfs*20 Frameshift 10/13 - 1
4-72620169-CACATAGTTCTTGTCCCTTGTCAAT-C c.1198_1221del p.I400_C407del InFrameDeletion 10/13 - 1
4-72620167-GCA-G c.1221_1222del p.A408Rfs*9 Frameshift 10/13 - 1
4-72620170-AC-A c.1220del p.C407Lfs*20 Frameshift 10/13 - 1
4-72620170-ACATAGTTCTTGTCCCTTGTCAATGAAAGAAGATAGTTCCTTCTTTAGTAGAGGGCCCTG-A c.1165-3_1220del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620170-C-A c.1220G>T p.C407F Missense 10/13 - 3
4-72620170-CA-GT c.1219_1220delinsAC p.C407T Missense 10/13 - 1
4-72620170-C-G c.1220G>C p.C407S Missense 10/13 - 2
4-72620170-C-T c.1220G>A p.C407Y Missense 10/13 - 5
4-72620171-A-C c.1219T>G p.C407G Missense 10/13 - 2
4-72620171-A-G c.1219T>C p.C407R Missense 10/13 - 5
4-72620171-A-T c.1219T>A p.C407S Missense 10/13 - 2
4-72620171-CA-C c.1219del p.C407Vfs*20 Frameshift 10/13 - 1
4-72620172-AT-A c.1218del p.C407Vfs*20 Frameshift 10/13 - 1
4-72620172-T-A c.1218A>T p.L406= Synonymous 10/13 - 7
4-72620172-TAG-AAA c.1216_1218delinsTTT p.L406F Missense 10/13 - 1
4-72620172-TAG-CAT c.1216_1218delinsATG p.L406M Missense 10/13 - 1
4-72620172-TAG-CCA c.1216_1218delinsTGG p.L406W Missense 10/13 - 2
4-72620172-T-C c.1218A>G p.L406= Synonymous 10/13 - 9
4-72620172-T-G c.1218A>C p.L406= Synonymous 10/13 - 6
4-72620171-ATAG-A c.1216_1218del p.L406del InFrameDeletion 10/13 - 1
4-72620172-T-TA c.1217dup p.C407Mfs*11 Frameshift 10/13 - 1
4-72620173-A-C c.1217T>G p.L406R Missense 10/13 - 1
4-72620173-A-G c.1217T>C p.L406P Missense 10/13 - 6
4-72620173-A-T c.1217T>A p.L406Q Missense 10/13 - 4
4-72620173-TA-T c.1217del p.L406Hfs*21 Frameshift 10/13 - 1
4-72620172-TAGTTCTTGTCCCTTGTCA-T c.1200_1217del p.D401_L406del InFrameDeletion 10/13 - 1
4-72620173-A-AG c.1216dup p.L406Pfs*12 Frameshift 10/13 - 1
4-72620174-AG-A c.1216del p.L406Yfs*21 Frameshift 10/13 - 1
4-72620174-G-A c.1216C>T p.L406= Synonymous 10/13 - 23
4-72620174-G-C c.1216C>G p.L406V Missense 10/13 - 2
4-72620174-G-T c.1216C>A p.L406I Missense 10/13 - 5
4-72620172-T-TAGTA c.1217_1218insTACT p.C407Tfs*12 Frameshift 10/13 - 1
4-72620175-GTTCTTGTCCCTTGTCAATGAAAGAA-G c.1191_1215del p.S398Yfs*21 Frameshift 10/13 - 1
4-72620175-T-A c.1215A>T p.E405D Missense 10/13 - 2
4-72620175-T-C c.1215A>G p.E405= Synonymous 10/13 - 10
4-72620175-T-G c.1215A>C p.E405D Missense 10/13 - 7
4-72620174-G-GT c.1215dup p.L406Tfs*12 Frameshift 10/13 - 2
4-72620174-GT-G c.1215del p.E405Dfs*22 Frameshift 10/13 - 1
4-72620176-T-A c.1214A>T p.E405V Missense 10/13 - 2
4-72620176-T-C c.1214A>G p.E405G Missense 10/13 - 6
4-72620176-T-G c.1214A>C p.E405A Missense 10/13 - 1
4-72620176-T-TC c.1213dup p.E405Gfs*13 Frameshift 10/13 - 1
4-72620177-C-A c.1213G>T p.E405* Nonsense 10/13 - 4
4-72620177-C-G c.1213G>C p.E405Q Missense 10/13 - 3
4-72620177-C-T c.1213G>A p.E405K Missense 10/13 - 11
4-72620177-TC-T c.1213del p.E405Nfs*22 Frameshift 10/13 - 2
4-72620178-T-A c.1212A>T p.Q404H Missense 10/13 - 5
4-72620178-T-C c.1212A>G p.Q404= Synonymous 10/13 - 5
4-72620178-T-G c.1212A>C p.Q404H Missense 10/13 - 4
4-72620177-CT-C c.1212del p.E405Nfs*22 Frameshift 10/13 - 2
4-72620177-CTTGTCCCT-C c.1205_1212del p.K402Rfs*13 Frameshift 10/13 - 1
4-72620177-CTTGTCCCTTGTCAATGAAAGAAGATAGTTCCTTCTTTAG-C c.1174_1212del p.L392_Q404del InFrameDeletion 10/13 - 1
4-72620178-T-TTTCTTG c.1211_1212insCAAGAA p.Q404delinsHKK MultiAAMissense 10/13 - 1
4-72620179-T-A c.1211A>T p.Q404L Missense 10/13 - 1
4-72620179-T-C c.1211A>G p.Q404R Missense 10/13 - 2
4-72620179-T-G c.1211A>C p.Q404P Missense 10/13 - 4
4-72620179-TG-GC c.1210_1211delinsGC p.Q404A Missense 10/13 - 1
4-72620179-T-TTGATTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTGATACGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATC c.1210_1211insGATCGGAAGAGCACACGTCTGAACTCCAGTCACACGTATCAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAATCA p.Q404delinsRSEEHTSELQSHVSISYAVFCLKKKIK MultiAAMissense 10/13 - 1
4-72620179-T-TG c.1210dup p.Q404Pfs*14 Frameshift 10/13 - 1
4-72620180-G-A c.1210C>T p.Q404* Nonsense 10/13 - 10
4-72620180-G-C c.1210C>G p.Q404E Missense 10/13 - 4
4-72620180-G-GC c.1209_1210insG p.Q404Afs*14 Frameshift 10/13 - 1
4-72620180-G-T c.1210C>A p.Q404K Missense 10/13 - 3
4-72620180-TGTCCCTTGTCAATGAAAGAAGATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACA-T c.1165-13_1210del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620181-GT-G c.1209del p.Q404Kfs*23 Frameshift 10/13 - 2
4-72620181-T-A c.1209A>T p.G403= Synonymous 10/13 - 4
4-72620181-T-C c.1209A>G p.G403= Synonymous 10/13 - 10
4-72620181-TC-GT c.1208_1209delinsAC p.G403D Missense 10/13 - 1
4-72620181-T-G c.1209A>C p.G403= Synonymous 10/13 - 7
4-72620182-C-A c.1208G>T p.G403V Missense 10/13 - 3
4-72620182-C-CAGCCGA c.1207_1208insTCGGCT p.G403delinsVG* Frameshift 10/13 - 1
4-72620182-C-CATTTTTTTTTTCAAGCAGAAGACGGCATACGAGATGGATTAGGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.1207_1208insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTAATCCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAT p.G403Efs*8 Frameshift 10/13 - 1
4-72620182-C-G c.1208G>C p.G403A Missense 10/13 - 4
4-72620182-C-T c.1208G>A p.G403E Missense 10/13 - 6
4-72620182-C-CCAAACAAAAATTCTGCCT c.1207_1208insAGGCAGAATTTTTGTTTG p.K402_G403insEAEFLF InFrameInsertion 10/13 - 1
4-72620182-C-CCTGGGTTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTGGCTCAGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.1207_1208insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCTGAGCCAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACCCAG p.G403Efs*8 Frameshift 10/13 - 1
4-72620182-C-CCTGGTTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTGGTTGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.1207_1208insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAACAACCAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACCAG p.K402_G403insEIGRAHV* Frameshift 10/13 - 1
4-72620183-C-A c.1207G>T p.G403* Nonsense 10/13 - 2
4-72620183-C-CGCT c.1206_1207insAGC p.K402_G403insS InFrameInsertion 10/13 - 1
4-72620183-C-G c.1207G>C p.G403R Missense 10/13 - 5
4-72620183-C-T c.1207G>A p.G403R Missense 10/13 - 12
4-72620181-TC-T c.1208del p.G403Dfs*24 Frameshift 10/13 - 3
4-72620181-T-TC c.1208dup p.Q404Tfs*14 Frameshift 10/13 - 2
4-72620184-C-A c.1206G>T p.K402N Missense 10/13 - 2
4-72620184-C-G c.1206G>C p.K402N Missense 10/13 - 2
4-72620184-C-T c.1206G>A p.K402= Synonymous 10/13 - 6
4-72620185-CTT-C c.1204_1205del p.K402Gfs*15 Frameshift 10/13 - 1
4-72620185-T-A c.1205A>T p.K402M Missense 10/13 - 1
4-72620185-T-C c.1205A>G p.K402R Missense 10/13 - 4
4-72620185-T-G c.1205A>C p.K402T Missense 10/13 - 3
4-72620185-T-TACCTTTCGTAGTGTCTGCGAGTACAGGTGGCCGCACTGGTGCTCCCAGGATTACC c.1204_1205insGGTAATCCTGGGAGCACCAGTGCGGCCACCTGTACTCGCAGACACTACGAAAGGT p.K402Rfs*2 Frameshift 10/13 - 1
4-72620185-TT-GC c.1204_1205delinsGC p.K402A Missense 10/13 - 1
4-72620185-T-TGCGCGCTGCAGGTGGAGCAGCTGGAGCCGCCGAGGTGCGTCG c.1204_1205insCGACGCACCTCGGCGGCTCCAGCTGCTCCACCTGCAGCGCGC p.K402delinsTTHLGGSSCSTCSAQ MultiAAMissense 10/13 - 1
4-72620184-C-CT c.1205dup p.Q404Tfs*14 Frameshift 10/13 - 2
4-72620184-CT-C c.1205del p.K402Rfs*25 Frameshift 10/13 - 2
4-72620184-CTTGTCAATGAAAGAAGATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAAT-C c.1165-18_1205del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620186-T-A c.1204A>T p.K402* Nonsense 10/13 - 1
4-72620186-T-C c.1204A>G p.K402E Missense 10/13 - 8
4-72620186-T-G c.1204A>C p.K402Q Missense 10/13 - 4
4-72620186-T-TA c.1203_1204insT p.K402* Nonsense 10/13 - 4
4-72620186-T-TG c.1203dup p.K402Qfs*16 Frameshift 10/13 - 2
4-72620187-G-A c.1203C>T p.D401= Synonymous 10/13 - 10
4-72620187-G-C c.1203C>G p.D401E Missense 10/13 - 5
4-72620187-G-T c.1203C>A p.D401E Missense 10/13 - 4
4-72620187-GTC-TTA c.1201_1203delinsTAA p.D401* Nonsense 10/13 - 1
4-72620187-TG-T c.1203del p.D401Efs*26 Frameshift 10/13 - 2
4-72620187-TGTC-T c.1201_1203del p.D401del InFrameDeletion 10/13 - 1
4-72620188-GT-G c.1202del p.D401Afs*26 Frameshift 10/13 - 1
4-72620188-T-A c.1202A>T p.D401V Missense 10/13 - 2
4-72620188-T-C c.1202A>G p.D401G Missense 10/13 - 9
4-72620188-TC-AA c.1201_1202delinsTT p.D401F Missense 10/13 - 1
4-72620188-TC-AT c.1201_1202delinsAT p.D401I Missense 10/13 - 1
4-72620188-TC-CA c.1201_1202delinsTG p.D401C Missense 10/13 - 1
4-72620188-TC-CT c.1201_1202delinsAG p.D401S Missense 10/13 - 1
4-72620188-TC-GG c.1201_1202delinsCC p.D401P Missense 10/13 - 1
4-72620188-T-G c.1202A>C p.D401A Missense 10/13 - 3
4-72620188-T-TC c.1201dup p.D401Gfs*17 Frameshift 10/13 - 2
4-72620189-C-A c.1201G>T p.D401Y Missense 10/13 - 8
4-72620189-C-G c.1201G>C p.D401H Missense 10/13 - 6
4-72620189-C-T c.1201G>A p.D401N Missense 10/13 - 11
4-72620189-TCAATGAAAGAAGATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCA-T c.1165-22_1201del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620190-A-C c.1200T>G p.I400M Missense 10/13 - 3
4-72620190-A-G c.1200T>C p.I400= Synonymous 10/13 - 8
4-72620190-A-T c.1200T>A p.I400= Synonymous 10/13 - 4
4-72620190-CAAT-C c.1198_1200del p.I400del InFrameDeletion 10/13 - 1
4-72620190-CAATGAAAGAAGATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCAT-C c.1165-23_1200del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620189-CA-C c.1200del p.I400Mfs*27 Frameshift 10/13 - 2
4-72620189-C-CA c.1200dup p.D401* Nonsense 10/13 - 1
4-72620191-AAT-A c.1198_1199del p.I400* Frameshift 10/13 - 1
4-72620191-A-C c.1199T>G p.I400S Missense 10/13 - 4
4-72620191-A-G c.1199T>C p.I400T Missense 10/13 - 5
4-72620191-A-T c.1199T>A p.I400N Missense 10/13 - 1
4-72620191-A-AT c.1198dup p.I400Nfs*2 Frameshift 10/13 - 1
4-72620192-AT-A c.1198del p.I400Lfs*27 Frameshift 10/13 - 1
4-72620192-ATG-A c.1197_1198del p.I400* Frameshift 10/13 - 1
4-72620192-T-A c.1198A>T p.I400F Missense 10/13 - 1
4-72620192-T-C c.1198A>G p.I400V Missense 10/13 - 8
4-72620192-T-G c.1198A>C p.I400L Missense 10/13 - 2
4-72620192-T-TA c.1197_1198insT p.I400Yfs*2 Frameshift 10/13 - 1
4-72620192-T-TG c.1197dup p.I400Hfs*2 Frameshift 10/13 - 1
4-72620193-G-A c.1197C>T p.F399= Synonymous 10/13 - 8
4-72620193-G-C c.1197C>G p.F399L Missense 10/13 - 1
4-72620193-G-T c.1197C>A p.F399L Missense 10/13 - 2
4-72620193-TGAAAGAAGATAGTTCCTTCTTTAG-T c.1174_1197del p.L392_F399del InFrameDeletion 10/13 - 1
4-72620193-TGAAAGAAG-T c.1190_1197del p.S397Yfs*2 Frameshift 10/13 - 1
4-72620194-AA-GC c.1195_1196delinsGC p.F399A Missense 10/13 - 1
4-72620194-AA-TG c.1195_1196delinsCA p.F399H Missense 10/13 - 1
4-72620194-A-C c.1196T>G p.F399C Missense 10/13 - 2
4-72620194-A-G c.1196T>C p.F399S Missense 10/13 - 10
4-72620194-A-T c.1196T>A p.F399Y Missense 10/13 - 3
4-72620193-GAA-G c.1195_1196del p.F399Hfs*2 Frameshift 10/13 - 1
4-72620195-A-AGGGC c.1194_1195insGCCC p.F399Afs*4 Frameshift 10/13 - 1
4-72620195-A-C c.1195T>G p.F399V Missense 10/13 - 4
4-72620195-A-G c.1195T>C p.F399L Missense 10/13 - 4
4-72620195-A-T c.1195T>A p.F399I Missense 10/13 - 2
4-72620193-GA-G c.1196del p.F399Sfs*28 Frameshift 10/13 - 2
4-72620193-G-GA c.1196dup p.I400Hfs*2 Frameshift 10/13 - 2
4-72620196-A-C c.1194T>G p.S398= Synonymous 10/13 - 1
4-72620196-A-G c.1194T>C p.S398= Synonymous 10/13 - 5
4-72620196-A-T c.1194T>A p.S398= Synonymous 10/13 - 4
4-72620193-GAAAGAAGATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACA-G c.1165-27_1196del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620196-A-AG c.1193dup p.I400Hfs*2 Frameshift 10/13 - 1
4-72620197-AG-A c.1193del p.S398Ffs*29 Frameshift 10/13 - 1
4-72620197-G-A c.1193C>T p.S398F Missense 10/13 - 6
4-72620197-GA-CG c.1192_1193delinsCG p.S398R Missense 10/13 - 1
4-72620197-GA-TT c.1192_1193delinsAA p.S398N Missense 10/13 - 2
4-72620197-G-GTA c.1192_1193insTA p.S398Lfs*30 Frameshift 10/13 - 1
4-72620197-G-T c.1193C>A p.S398Y Missense 10/13 - 1
4-72620195-AAGAAGATAGTTCCTTCTTTAGTAG-A c.1171_1194del p.L391_S398del InFrameDeletion 10/13 - 1
4-72620196-AGAAGATAGTTCCTTCTTTAGTAGAG-A c.1169_1193del p.P390Lfs*29 Frameshift 10/13 - 1
4-72620198-A-AGGGCGAGCGGCCTCCGCTGTGGGCGTT c.1191_1192insAACGCCCACAGCGGAGGCCGCTCGCCC p.S397_S398insNAHSGGRSP InFrameInsertion 10/13 - 1
4-72620198-A-C c.1192T>G p.S398A Missense 10/13 - 1
4-72620198-A-G c.1192T>C p.S398P Missense 10/13 - 1
4-72620198-GAAGATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAAT-G c.1165-31_1192del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620194-AAAG-A c.1193_1195del p.S398del InFrameDeletion 10/13 - 1
4-72620199-AAGATAGTTC-A c.1183_1191del p.E395_S397del InFrameDeletion 10/13 - 1
4-72620199-A-C c.1191T>G p.S397= Synonymous 10/13 - 7
4-72620199-A-G c.1191T>C p.S397= Synonymous 10/13 - 10
4-72620199-AGA-CTT c.1189_1191delinsAAG p.S397K Missense 10/13 - 1
4-72620199-AG-TT c.1190_1191delinsAA p.S397* Nonsense 10/13 - 2
4-72620199-A-T c.1191T>A p.S397= Synonymous 10/13 - 8
4-72620198-A-AAGC c.1191_1192insGCT p.S397_S398insA InFrameInsertion 10/13 - 1
4-72620198-AAGATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATT-A c.1165-32_1191del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620199-A-AG c.1190dup p.S398Ffs*4 Frameshift 10/13 - 1
4-72620200-AGAT-A c.1188_1190del p.S398del InFrameDeletion 10/13 - 1
4-72620200-G-A c.1190C>T p.S397F Missense 10/13 - 11
4-72620200-GA-AC c.1189_1190delinsGT p.S397V Missense 10/13 - 1
4-72620200-GA-AG c.1189_1190delinsCT p.S397L Missense 10/13 - 3
4-72620200-GA-AT c.1189_1190delinsAT p.S397I Missense 10/13 - 1
4-72620200-GA-CC c.1189_1190delinsGG p.S397G Missense 10/13 - 1
4-72620200-G-C c.1190C>G p.S397C Missense 10/13 - 1
4-72620200-G-GC c.1189_1190insG p.S397Cfs*5 Frameshift 10/13 - 1
4-72620200-G-GCC c.1189_1190insGG p.S397Wfs*31 Frameshift 10/13 - 1
4-72620200-G-T c.1190C>A p.S397Y Missense 10/13 - 2
4-72620201-A-ACGCCGC c.1188_1189insGCGGCG p.L396_S397insAA InFrameInsertion 10/13 - 1
4-72620201-A-C c.1189T>G p.S397A Missense 10/13 - 6
4-72620201-A-G c.1189T>C p.S397P Missense 10/13 - 6
4-72620201-A-T c.1189T>A p.S397T Missense 10/13 - 1
4-72620201-GA-G c.1189del p.S397Lfs*30 Frameshift 10/13 - 1
4-72620201-GATA-G c.1187_1189del p.L396_S397delinsP MultiAAMissense 10/13 - 1
4-72620200-G-GATTTGTCACAGGTTCCAGTACCCACATTGTTATTGGCTTTTCCCATCAACAAGGCAGAGAGAGATGGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAA c.1189_1190insTTTTTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCCATCTCTCTCTGCCTTGTTGATGGGAAAAGCCAATAACAATGTGGGTACTGGAACCTGTGACAAAT p.L396_S397insFFLMIRRPPRSTLFPYTTLFPSLSALLMGKANNNVGTGTCDK InFrameInsertion 10/13 - 1
4-72620201-A-AT c.1188dup p.S397Ifs*5 Frameshift 10/13 - 3
4-72620202-AT-A c.1188del p.S397Lfs*30 Frameshift 10/13 - 2
4-72620202-ATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATT-A c.1165-35_1188del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620202-T-A c.1188A>T p.L396= Synonymous 10/13 - 3
4-72620202-TA-AT c.1187_1188delinsAT p.L396H Missense 10/13 - 3
4-72620202-TAG-AAA c.1186_1188delinsTTT p.L396F Missense 10/13 - 2
4-72620202-T-C c.1188A>G p.L396= Synonymous 10/13 - 8
4-72620202-T-G c.1188A>C p.L396= Synonymous 10/13 - 3
4-72620202-T-TCTCTCCGGCA c.1187_1188insTGCCGGAGAG p.S397Afs*8 Frameshift 10/13 - 1
4-72620201-A-ATATGGCTGTACTTGACTGCTT c.1188_1189insAAGCAGTCAAGTACAGCCATA p.L396_S397insKQSSTAI InFrameInsertion 10/13 - 1
4-72620201-ATAG-A c.1186_1188del p.L396del InFrameDeletion 10/13 - 1
4-72620201-ATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATT-A c.1165-35_1188del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620202-T-TA c.1187dup p.S397Ifs*5 Frameshift 10/13 - 1
4-72620202-T-TAAGCGGCCTCCGCTGTGGGCGTCGGGCG c.1187_1188insCGCCCGACGCCCACAGCGGAGGCCGCTT p.S397Afs*14 Frameshift 10/13 - 1
4-72620203-A-AT c.1186_1187insA p.L396Hfs*6 Frameshift 10/13 - 1
4-72620203-A-C c.1187T>G p.L396R Missense 10/13 - 4
4-72620203-A-G c.1187T>C p.L396P Missense 10/13 - 7
4-72620203-A-T c.1187T>A p.L396Q Missense 10/13 - 3
4-72620203-TA-T c.1187del p.L396Hfs*31 Frameshift 10/13 - 2
4-72620204-G-A c.1186C>T p.L396= Synonymous 10/13 - 10
4-72620204-G-C c.1186C>G p.L396V Missense 10/13 - 2
4-72620204-G-T c.1186C>A p.L396I Missense 10/13 - 4
4-72620205-GTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGT-G c.1165-38_1185del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620205-GTTC-G c.1183_1185del p.E395del InFrameDeletion 10/13 - 1
4-72620205-T-A c.1185A>T p.E395D Missense 10/13 - 1
4-72620205-T-C c.1185A>G p.E395= Synonymous 10/13 - 5
4-72620205-T-G c.1185A>C p.E395D Missense 10/13 - 2
4-72620205-T-TGCTGG c.1184_1185insCCAGC p.E395Dfs*34 Frameshift 10/13 - 1
4-72620204-G-GT c.1185dup p.L396Tfs*6 Frameshift 10/13 - 1
4-72620204-GT-G c.1185del p.E395Dfs*32 Frameshift 10/13 - 1
4-72620206-T-A c.1184A>T p.E395V Missense 10/13 - 4
4-72620206-T-C c.1184A>G p.E395G Missense 10/13 - 2
4-72620206-T-G c.1184A>C p.E395A Missense 10/13 - 2
4-72620205-TTCCTTC-T c.1179_1184del p.K394_E395del InFrameDeletion 10/13 - 1
4-72620205-TTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTC-T c.1165-39_1184del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620205-T-TTCAGG c.1184_1185insCCTGA p.E395Dfs*34 Frameshift 10/13 - 2
4-72620207-C-A c.1183G>T p.E395* Nonsense 10/13 - 4
4-72620207-C-CA c.1182_1183insT p.E395* Nonsense 10/13 - 6
4-72620207-C-G c.1183G>C p.E395Q Missense 10/13 - 4
4-72620207-C-T c.1183G>A p.E395K Missense 10/13 - 13
4-72620207-TCCTTC-T c.1179_1183del p.K394Tfs*6 Frameshift 10/13 - 1
4-72620207-TCCTTCTTTAGTAGAGG-T c.1168_1183del p.P390Nfs*32 Frameshift 10/13 - 1
4-72620206-TC-T c.1183del p.E395Nfs*32 Frameshift 10/13 - 1
4-72620206-T-TC c.1183dup p.E395Gfs*7 Frameshift 10/13 - 1
4-72620208-C-A c.1182G>T p.K394N Missense 10/13 - 7
4-72620208-CCT-C c.1181_1182del p.K394Rfs*7 Frameshift 10/13 - 1
4-72620208-CCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTT-C c.1165-41_1182del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 10/13 9/12 2
4-72620208-C-G c.1182G>C p.K394N Missense 10/13 - 3
4-72620208-C-T c.1182G>A p.K394= Synonymous 10/13 - 7
4-72620208-CTT-ATG c.1180_1182delinsCAT p.K394H Missense 10/13 - 1
4-72620209-CTT-C c.1180_1181del p.K394Gfs*7 Frameshift 10/13 - 1
4-72620209-CTTCTTTAGTAGA-C c.1170_1181del p.L391_K394del InFrameDeletion 10/13 - 1
4-72620209-CTTCTTTAGT-C c.1173_1181del p.L392_K394del InFrameDeletion 10/13 - 1
4-72620209-T-A c.1181A>T p.K394M Missense 10/13 - 2
4-72620209-T-C c.1181A>G p.K394R Missense 10/13 - 2
4-72620209-T-G c.1181A>C p.K394T Missense 10/13 - 5
4-72620209-T-TG c.1180_1181insC p.K394Tfs*8 Frameshift 10/13 - 1
4-72620208-C-CT c.1181dup p.E395Gfs*7 Frameshift 10/13 - 1
4-72620208-CT-C c.1181del p.K394Rfs*33 Frameshift 10/13 - 2
4-72620210-T-A c.1180A>T p.K394* Nonsense 10/13 - 4
4-72620210-T-C c.1180A>G p.K394E Missense 10/13 - 5
4-72620210-T-G c.1180A>C p.K394Q Missense 10/13 - 3
4-72620210-T-TA c.1179_1180insT p.K394* Nonsense 10/13 - 1
4-72620210-TTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGA-T c.1165-43_1180del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620207-CCTT-C c.1180_1182del p.K394del InFrameDeletion 10/13 - 1
4-72620210-T-TC c.1179dup p.K394Efs*8 Frameshift 10/13 - 1
4-72620211-C-A c.1179G>T p.K393N Missense 10/13 - 5
4-72620211-C-G c.1179G>C p.K393N Missense 10/13 - 5
4-72620211-C-T c.1179G>A p.K393= Synonymous 10/13 - 7
4-72620211-TCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAA-T c.1165-44_1179del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620211-TCTTTA-T c.1175_1179del p.L392Qfs*8 Frameshift 10/13 - 1
4-72620212-CTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAAA-C c.1165-45_1178del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620212-T-A c.1178A>T p.K393M Missense 10/13 - 1
4-72620212-T-C c.1178A>G p.K393R Missense 10/13 - 3
4-72620212-T-G c.1178A>C p.K393T Missense 10/13 - 2
4-72620212-T-TCGCTGTGGGCGTTGGGCGAGCGGCCTC c.1177_1178insGAGGCCGCTCGCCCAACGCCCACAGCG p.K393delinsRGRSPNAHSE MultiAAMissense 10/13 - 3
4-72620213-T-A c.1177A>T p.K393* Nonsense 10/13 - 4
4-72620213-T-C c.1177A>G p.K393E Missense 10/13 - 9
4-72620213-T-G c.1177A>C p.K393Q Missense 10/13 - 2
4-72620213-T-TA c.1176_1177insT p.K393* Nonsense 10/13 - 2
4-72620213-T-TAGTGGTGGTGCTTGAAGAAGTGAAGCTGGTGGTACTATGTGAGGTGGTCTTG c.1176_1177insCAAGACCACCTCACATAGTACCACCAGCTTCACTTCTTCAAGCACCACCACT p.K393Qfs*6 Frameshift 10/13 - 1
4-72620213-TTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAAAC-T c.1165-46_1177del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620211-C-CT c.1178dup p.K394Efs*8 Frameshift 10/13 - 4
4-72620211-CT-C c.1178del p.K393Rfs*34 Frameshift 10/13 - 2
4-72620214-T-A c.1176A>T p.L392= Synonymous 10/13 - 5
4-72620214-TAG-AAA c.1174_1176delinsTTT p.L392F Missense 10/13 - 1
4-72620214-TAG-GTC c.1174_1176delinsGAC p.L392D Missense 10/13 - 1
4-72620214-T-C c.1176A>G p.L392= Synonymous 10/13 - 11
4-72620214-T-G c.1176A>C p.L392= Synonymous 10/13 - 3
4-72620214-T-TG c.1175_1176insC p.K394Efs*8 Frameshift 10/13 - 2
4-72620213-TTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAAACC-T c.1165-47_1176del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620214-T-TA c.1175dup p.K394Efs*8 Frameshift 10/13 - 1
4-72620215-A-C c.1175T>G p.L392R Missense 10/13 - 1
4-72620215-A-G c.1175T>C p.L392P Missense 10/13 - 7
4-72620215-AG-GA c.1174_1175delinsTC p.L392S Missense 10/13 - 1
4-72620215-A-T c.1175T>A p.L392Q Missense 10/13 - 2
4-72620215-TA-T c.1175del p.L392Qfs*35 Frameshift 10/13 - 2
4-72620215-A-AG c.1174dup p.L392Pfs*10 Frameshift 10/13 - 1
4-72620216-AG-A c.1174del p.L392* Frameshift 10/13 - 2
4-72620216-G-A c.1174C>T p.L392= Synonymous 10/13 - 12
4-72620216-G-C c.1174C>G p.L392V Missense 10/13 - 4
4-72620216-G-T c.1174C>A p.L392I Missense 10/13 - 3
4-72620216-G-GT c.1173dup p.L392Tfs*10 Frameshift 10/13 - 2
4-72620217-GT-G c.1173del p.L392* Frameshift 10/13 - 2
4-72620217-T-A c.1173A>T p.L391= Synonymous 10/13 - 5
4-72620217-TAG-AAA c.1171_1173delinsTTT p.L391F Missense 10/13 - 2
4-72620217-TAG-CAT c.1171_1173delinsATG p.L391M Missense 10/13 - 1
4-72620217-T-C c.1173A>G p.L391= Synonymous 10/13 - 10
4-72620217-T-G c.1173A>C p.L391= Synonymous 10/13 - 7
4-72620217-T-TC c.1172_1173insG p.L392Tfs*10 Frameshift 10/13 - 1
4-72620219-G-A c.1171C>T p.L391= Synonymous 10/13 - 12
4-72620217-T-TA c.1172dup p.L392Tfs*10 Frameshift 10/13 - 1
4-72620218-A-ACAAACAAAAATTCTGCCT c.1171_1172insAGGCAGAATTTTTGTTTG p.L391delinsQAEFLFV MultiAAMissense 10/13 - 1
4-72620218-A-C c.1172T>G p.L391R Missense 10/13 - 2
4-72620218-A-G c.1172T>C p.L391P Missense 10/13 - 2
4-72620218-AG-GA c.1171_1172delinsTC p.L391S Missense 10/13 - 3
4-72620218-AG-TA c.1171_1172delinsTA p.L391* Nonsense 10/13 - 1
4-72620218-A-T c.1172T>A p.L391Q Missense 10/13 - 1
4-72620218-TA-T c.1172del p.L391Hfs*2 Frameshift 10/13 - 1
4-72620218-A-AG c.1171dup p.L391Pfs*11 Frameshift 10/13 - 1
4-72620219-AG-A c.1171del p.L391Yfs*2 Frameshift 10/13 - 3
4-72620219-G-C c.1171C>G p.L391V Missense 10/13 - 3
4-72620219-G-T c.1171C>A p.L391I Missense 10/13 - 3
4-72620217-TAG-T c.1171_1172del p.L391Tfs*10 Frameshift 10/13 - 1
4-72620220-A-AAC c.1169_1170insGT p.L391Ffs*3 Frameshift 10/13 - 1
4-72620220-A-C c.1170T>G p.P390= Synonymous 10/13 - 5
4-72620220-A-G c.1170T>C p.P390= Synonymous 10/13 - 8
4-72620220-A-T c.1170T>A p.P390= Synonymous 10/13 - 7
4-72620220-GA-G c.1170del p.L391Yfs*2 Frameshift 10/13 - 1
4-72620220-A-AGCCGCAGGCTGGGGCTGGAGG c.1169_1170insCCTCCAGCCCCAGCCTGCGGC p.L391_L392insQPQPAAL InFrameInsertion 10/13 - 1
4-72620221-G-A c.1169C>T p.P390L Missense 10/13 - 9
4-72620221-G-T c.1169C>A p.P390H Missense 10/13 - 4
4-72620220-A-AGGC c.1169_1170insGCC p.P390dup InFrameInsertion 10/13 - 1
4-72620222-G-A c.1168C>T p.P390S Missense 10/13 - 8
4-72620222-G-C c.1168C>G p.P390A Missense 10/13 - 3
4-72620222-GGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAAACCTTGTCCCA-G c.1165-55_1168del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620222-G-T c.1168C>A p.P390T Missense 10/13 - 7
4-72620220-A-AG c.1169dup p.L391Sfs*11 SpliceAcceptorInsertion 10/13 - 1
4-72620220-AG-A c.1169del p.P390Lfs*3 Frameshift 10/13 - 4
4-72620222-G-GGTCGGCGCGCTGCAGGTGGAGCAGCTGGAGCCGCCGAGGTGC c.1167_1168insGCACCTCGGCGGCTCCAGCTGCTCCACCTGCAGCGCGCCGAC p.G389_P390insAPRRLQLLHLQRAD SpliceAcceptorInsertion 10/13 - 1
4-72620223-G-A c.1167C>T p.G389= Synonymous 10/13 - 7
4-72620223-G-C c.1167C>G p.G389= Synonymous 10/13 - 4
4-72620223-GC-CT c.1166_1167delinsAG p.G389E Missense 10/13 - 3
4-72620223-GGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAAACCTTGTCCCAT-G c.1165-56_1167del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 2
4-72620223-G-T c.1167C>A p.G389= Synonymous 10/13 - 4
4-72620224-C-A c.1166G>T p.G389V Missense 10/13 - 3
4-72620224-C-CA c.1165_1166insT p.G389Vfs*13 SpliceAcceptorInsertion 10/13 - 1
4-72620224-C-CGCAATG c.1165_1166insCATTGC p.G389delinsALR SpliceAcceptorInsertion 10/13 - 1
4-72620224-CC-TT c.1165_1166delinsAA p.G389N Missense 10/13 - 1
4-72620224-C-G c.1166G>C p.G389A Missense 10/13 - 7
4-72620224-C-T c.1166G>A p.G389D Missense 10/13 - 16
4-72620224-GCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAAACCTTGTCCCATC-G c.1165-57_1166del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620225-C-A c.1165G>T p.G389C Missense 10/13 - 7
4-72620225-C-G c.1165G>C p.G389R Missense 10/13 - 12
4-72620225-C-T c.1165G>A p.G389S Missense 10/13 - 13
4-72620223-G-GC c.1166dup - SpliceAcceptorInsertion - 9/12 3
4-72620583-TTC-T c.1164+110_1164+111del - IntronicDeletion - 9/12 1
4-72620601-TAA-T c.1164+92_1164+93del - IntronicDeletion - 9/12 1
4-72620617-G-A c.1164+78C>T - IntronicSNV - 9/12 1
4-72620653-C-T c.1164+42G>A - IntronicSNV - 9/12 1
4-72620656-T-C c.1164+39A>G - IntronicSNV - 9/12 1
4-72620672-T-C c.1164+23A>G - IntronicSNV - 9/12 1
4-72620678-A-G c.1164+17T>C - IntronicSNV - 9/12 1
4-72620692-AT-A c.1164+3del - IntronicDeletion - 9/12 1
4-72620692-T-TA c.1164+2dup - SpliceDonorInsertion - 9/12 1
4-72620694-C-A c.1164+1G>T - IntronicSNV - 9/12 1
4-72620694-C-CT c.1164_1164+1insA p.G389Rfs*13 SpliceDonorInsertion - - 1
4-72620694-C-T c.1164+1G>A - IntronicSNV - 9/12 2
4-72620693-A-AC c.1164+1dup - SpliceDonorInsertion 9/13 - 1
4-72620695-C-A c.1164G>T p.K388N Missense 9/13 - 6
4-72620695-CCTTAGCATTAAAACAGGTAGTTGAGTCTTCAACATCACAGCATTCACCAAGGCTTTTTA-C c.1106_1164del p.L369Rfs*13 SpliceDonorDeletion 9/13 - 1
4-72620695-C-G c.1164G>C p.K388N Missense 9/13 - 6
4-72620695-C-T c.1164G>A p.K388= Synonymous 9/13 - 12
4-72620695-CT-GA c.1163_1164delinsTC p.K388I Missense 9/13 - 1
4-72620695-CT-GC c.1163_1164delinsGC p.K388S Missense 9/13 - 1
4-72620695-CTT-ACA c.1162_1164delinsTGT p.K388C Missense 9/13 - 1
4-72620696-CTTAGCATTAAA-C c.1153_1163del p.F385Gfs*13 SpliceDonorDeletion 9/13 - 1
4-72620696-T-A c.1163A>T p.K388M Missense 9/13 - 5
4-72620696-T-C c.1163A>G p.K388R Missense 9/13 - 8
4-72620696-T-G c.1163A>C p.K388T Missense 9/13 - 2
4-72620696-TT-GC c.1162_1163delinsGC p.K388A Missense 9/13 - 2
4-72620695-C-CT c.1163dup p.L391Sfs*11 Frameshift 9/13 - 1
4-72620695-CT-C c.1163del p.K388Rfs*5 Frameshift 9/13 - 2
4-72620697-T-A c.1162A>T p.K388* Nonsense 9/13 - 1
4-72620697-T-C c.1162A>G p.K388E Missense 9/13 - 9
4-72620697-T-G c.1162A>C p.K388Q Missense 9/13 - 6
4-72620697-TTAGCATTAAAACAGGTAGTTGAGTCTTCAAC-T c.1132_1162del p.V378Rfs*5 Frameshift 9/13 - 1
4-72620697-TTAGCATTAAAACAGGTAGTTG-T c.1142_1162del p.S381_K388delins* MultiAAMissense 9/13 - 1
4-72620697-T-TC c.1161_1162insG p.K388Efs*14 Frameshift 9/13 - 1
4-72620694-CCTTAGCATTAAAACAGGTAGTTGAGT-C c.1139_1164del p.D380Gfs*13 Frameshift 9/13 - 1
4-72620697-T-TA c.1161dup p.K388* Nonsense 9/13 - 4
4-72620697-T-TAC c.1161_1162insGT p.K388Vfs*6 Frameshift 9/13 - 1
4-72620698-A-C c.1161T>G p.A387= Synonymous 9/13 - 6
4-72620698-A-G c.1161T>C p.A387= Synonymous 9/13 - 10
4-72620698-AGC-TTG c.1159_1161delinsCAA p.A387Q Missense 9/13 - 1
4-72620698-A-T c.1161T>A p.A387= Synonymous 9/13 - 6
4-72620698-TAGCATTAAAACA-T c.1150_1161del p.C384_A387del InFrameDeletion 9/13 - 1
4-72620698-TA-T c.1161del p.K388Rfs*5 Frameshift 9/13 - 1
4-72620697-TAGCATTAAAACAGGTAGTTGAGTCTTC-T c.1135_1161del p.E379_A387del InFrameDeletion 9/13 - 1
4-72620697-TAGCATTAAA-T c.1153_1161del p.F385_A387del InFrameDeletion 9/13 - 1
4-72620698-A-AG c.1160dup p.K388* Nonsense 9/13 - 1
4-72620699-G-A c.1160C>T p.A387V Missense 9/13 - 8
4-72620699-G-C c.1160C>G p.A387G Missense 9/13 - 3
4-72620699-G-T c.1160C>A p.A387D Missense 9/13 - 3
4-72620696-TTAGCATTAAAACAGG-T c.1148_1162del p.T383_A387del InFrameDeletion 9/13 - 1
4-72620700-C-A c.1159G>T p.A387S Missense 9/13 - 4
4-72620700-C-G c.1159G>C p.A387P Missense 9/13 - 3
4-72620700-C-T c.1159G>A p.A387T Missense 9/13 - 15
4-72620699-GCATTAAAACAGGTAGTTGAGT-G c.1139_1159del p.D380_N386del InFrameDeletion 9/13 - 1
4-72620701-A-C c.1158T>G p.N386K Missense 9/13 - 7
4-72620701-A-G c.1158T>C p.N386= Synonymous 9/13 - 8
4-72620701-A-T c.1158T>A p.N386K Missense 9/13 - 3
4-72620701-ATT-TTA c.1156_1158delinsTAA p.N386* Nonsense 9/13 - 1
4-72620701-CATTAAAA-C c.1152_1158del p.C384Wfs*7 Frameshift 9/13 - 1
4-72620701-CATTAAAACAGGTAGTTGAGTCTTCAACA-C c.1131_1158del p.D377Efs*7 Frameshift 9/13 - 1
4-72620701-CATTAAAACAGGTAGTTGAGTCTTCAACATCACAGCATTCACCAAGGCTTTTTAGGG-C c.1103_1158del p.T368Sfs*2 Frameshift 9/13 - 1
4-72620702-ATT-A c.1156_1157del p.N386Cfs*2 Frameshift 9/13 - 1
4-72620702-T-A c.1157A>T p.N386I Missense 9/13 - 2
4-72620702-T-C c.1157A>G p.N386S Missense 9/13 - 4
4-72620702-T-G c.1157A>C p.N386T Missense 9/13 - 3
4-72620702-TT-AA c.1156_1157inv p.N386F Missense 9/13 - 1
4-72620702-T-TC c.1156_1157insG p.N386Rfs*3 Frameshift 9/13 - 1
4-72620702-TT-CA c.1156_1157delinsTG p.N386C Missense 9/13 - 1
4-72620702-TT-CC c.1156_1157delinsGG p.N386G Missense 9/13 - 1
4-72620702-TT-GG c.1156_1157delinsCC p.N386P Missense 9/13 - 1
4-72620701-A-AT c.1157dup p.N386Kfs*3 Frameshift 9/13 - 1
4-72620701-AT-A c.1157del p.N386Mfs*7 Frameshift 9/13 - 2
4-72620703-T-A c.1156A>T p.N386Y Missense 9/13 - 7
4-72620703-T-C c.1156A>G p.N386D Missense 9/13 - 10
4-72620703-T-G c.1156A>C p.N386H Missense 9/13 - 5
4-72620702-TTAAAACAGGTAGTTGAGTCTTCAACATCACAGCA-T c.1123_1156del p.C375Mfs*7 Frameshift 9/13 - 1
4-72620703-T-TACTCTCCGGC c.1155_1156insGCCGGAGAGT p.N386Afs*4 Frameshift 9/13 - 1
4-72620704-A-AGT c.1154_1155insAC p.F385Lfs*9 Frameshift 9/13 - 1
4-72620704-A-C c.1155T>G p.F385L Missense 9/13 - 2
4-72620704-A-G c.1155T>C p.F385= Synonymous 9/13 - 5
4-72620704-A-T c.1155T>A p.F385L Missense 9/13 - 8
4-72620704-TAAAA-T c.1152_1155del p.C384* Frameshift 9/13 - 1
4-72620702-TTAAAACAGG-T c.1148_1156del p.T383_F385del InFrameDeletion 9/13 - 1
4-72620703-TAAAAC-T c.1151_1155del p.C384* Frameshift 9/13 - 1
4-72620703-TAAA-T c.1153_1155del p.F385del InFrameDeletion 9/13 - 1
4-72620703-T-TAATGCCTTTAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAGATCTGATCTCGTATGCCGTCTTCTGCTTGAAAAAA c.1155_1156insTTTTTTCAAGCAGAAGACGGCATACGAGATCAGATCTGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAAGGCATT p.F385_N386insFFQAEDGIRDQIW* Frameshift 9/13 - 1
4-72620705-AAAACAGGTAG-A c.1145_1154del p.T382Ifs*8 Frameshift 9/13 - 1
4-72620705-A-ACAAACAAAAATTCTGCCT c.1153_1154insAGGCAGAATTTTTGTTTG p.F385delins* Nonsense 9/13 - 1
4-72620705-A-ATTGCGGCG c.1153_1154insCGCCGCAA p.F385Sfs*11 Frameshift 9/13 - 1
4-72620705-A-C c.1154T>G p.F385C Missense 9/13 - 1
4-72620705-A-G c.1154T>C p.F385S Missense 9/13 - 5
4-72620705-A-T c.1154T>A p.F385Y Missense 9/13 - 2
4-72620704-AAAACAGGT-A c.1147_1154del p.T383* Frameshift 9/13 - 1
4-72620706-AAACAGGTAGT-A c.1144_1153del p.T382Lfs*8 Frameshift 9/13 - 1
4-72620706-A-AC c.1152_1153insG p.F385Vfs*2 Frameshift 9/13 - 1
4-72620706-A-ACCCT c.1152_1153insAGGG p.F385Rfs*3 Frameshift 9/13 - 1
4-72620706-A-ACT c.1152_1153insAG p.F385Sfs*9 Frameshift 9/13 - 1
4-72620706-A-AG c.1152_1153insC p.F385Lfs*2 Frameshift 9/13 - 1
4-72620706-A-AGCT c.1152_1153insAGC p.C384_F385insS InFrameInsertion 9/13 - 1
4-72620706-A-AT c.1152_1153insA p.F385Ifs*2 Frameshift 9/13 - 1
4-72620706-A-ATG c.1152_1153insCA p.F385Hfs*9 Frameshift 9/13 - 1
4-72620706-A-C c.1153T>G p.F385V Missense 9/13 - 1
4-72620706-A-G c.1153T>C p.F385L Missense 9/13 - 5
4-72620706-A-T c.1153T>A p.F385I Missense 9/13 - 5
4-72620703-TA-T c.1155del p.F385Lfs*8 Frameshift 9/13 - 2
4-72620703-T-TA c.1155dup p.N386* Nonsense 9/13 - 3
4-72620707-A-C c.1152T>G p.C384W Missense 9/13 - 4
4-72620707-A-G c.1152T>C p.C384= Synonymous 9/13 - 8
4-72620707-A-T c.1152T>A p.C384* Nonsense 9/13 - 1
4-72620706-AACAGGTAGTTGAGTCTTCAACATCACAGC-A c.1124_1152del p.C375Ffs*2 Frameshift 9/13 - 1
4-72620708-ACAGGTAGTTGAG-A c.1140_1151del p.S381_C384del InFrameDeletion 9/13 - 1
4-72620708-C-A c.1151G>T p.C384F Missense 9/13 - 3
4-72620708-C-G c.1151G>C p.C384S Missense 9/13 - 1
4-72620708-C-T c.1151G>A p.C384Y Missense 9/13 - 9
4-72620708-C-CA c.1150dup p.C384Lfs*3 Frameshift 9/13 - 1
4-72620708-C-CACCTGCTCATA c.1150_1151insTATGAGCAGGT p.C384Lfs*2 Frameshift 9/13 - 1
4-72620709-A-AT c.1149_1150insA p.C384Mfs*3 Frameshift 9/13 - 2
4-72620709-A-C c.1150T>G p.C384G Missense 9/13 - 2
4-72620709-A-G c.1150T>C p.C384R Missense 9/13 - 5
4-72620709-A-T c.1150T>A p.C384S Missense 9/13 - 2
4-72620709-CA-C c.1150del p.C384Vfs*9 Frameshift 9/13 - 1
4-72620709-CAGGTAGTTGAGTCTTCAACATCACAGCATTCACCAAGGCTTTTTAGGGTTGG-C c.1099_1150del p.P367Vfs*9 Frameshift 9/13 - 2
4-72620709-A-AGCT c.1149_1150insAGC p.T383_C384insS InFrameInsertion 9/13 - 1
4-72620710-G-A c.1149C>T p.T383= Synonymous 9/13 - 8
4-72620710-G-C c.1149C>G p.T383= Synonymous 9/13 - 5
4-72620710-GG-CA c.1148_1149delinsTG p.T383M Missense 9/13 - 2
4-72620710-G-T c.1149C>A p.T383= Synonymous 9/13 - 3
4-72620709-A-AG c.1149dup p.C384Lfs*3 Frameshift 9/13 - 1
4-72620709-AG-A c.1149del p.C384Vfs*9 Frameshift 9/13 - 2
4-72620709-AGGTAGTT-A c.1143_1149del p.T382Vfs*9 Frameshift 9/13 - 1
4-72620711-G-A c.1148C>T p.T383I Missense 9/13 - 5
4-72620711-G-C c.1148C>G p.T383S Missense 9/13 - 4
4-72620711-G-GAATA c.1147_1148insTATT p.T383Ifs*5 Frameshift 9/13 - 1
4-72620711-G-GGC c.1147_1148insGC p.T383Sfs*11 Frameshift 9/13 - 1
4-72620711-G-T c.1148C>A p.T383N Missense 9/13 - 5
4-72620711-GT-CC c.1147_1148delinsGG p.T383G Missense 9/13 - 1
4-72620711-G-GTTTCA c.1147_1148insTGAAA p.T383Mfs*12 Frameshift 9/13 - 1
4-72620712-T-A c.1147A>T p.T383S Missense 9/13 - 5
4-72620712-T-C c.1147A>G p.T383A Missense 9/13 - 10
4-72620712-T-G c.1147A>C p.T383P Missense 9/13 - 1
4-72620712-T-TCTC c.1146_1147insGAG p.T382_T383insE InFrameInsertion 9/13 - 1
4-72620712-T-TG c.1146_1147insC p.T383Hfs*4 Frameshift 9/13 - 1
4-72620710-GGTA-G c.1146_1148del p.T383del InFrameDeletion 9/13 - 1
4-72620711-GTAGTTGAGTCTTCAACA-G c.1131_1147del p.V378Lfs*3 Frameshift 9/13 - 1
4-72620712-T-TA c.1146dup p.T383Yfs*4 Frameshift 9/13 - 1
4-72620713-A-C c.1146T>G p.T382= Synonymous 9/13 - 5
4-72620713-A-G c.1146T>C p.T382= Synonymous 9/13 - 9
4-72620713-AG-CA c.1145_1146delinsTG p.T382M Missense 9/13 - 1
4-72620713-AG-CT c.1145_1146inv p.T382K Missense 9/13 - 1
4-72620713-A-T c.1146T>A p.T382= Synonymous 9/13 - 4
4-72620713-TA-T c.1146del p.T383Pfs*10 Frameshift 9/13 - 2
4-72620714-AG-A c.1145del p.T382Ifs*11 Frameshift 9/13 - 1
4-72620714-G-A c.1145C>T p.T382I Missense 9/13 - 7
4-72620714-G-C c.1145C>G p.T382S Missense 9/13 - 4
4-72620714-G-T c.1145C>A p.T382N Missense 9/13 - 5
4-72620714-GT-CA c.1144_1145delinsTG p.T382C Missense 9/13 - 1
4-72620715-T-A c.1144A>T p.T382S Missense 9/13 - 2
4-72620715-T-C c.1144A>G p.T382A Missense 9/13 - 8
4-72620715-T-G c.1144A>C p.T382P Missense 9/13 - 5
4-72620714-G-GT c.1144dup p.T382Nfs*5 Frameshift 9/13 - 1
4-72620714-GT-G c.1144del p.T382Lfs*11 Frameshift 9/13 - 2
4-72620714-GTTGAGTCTTCAACATCACAGCAT-G c.1122_1144del p.E374Dfs*5 Frameshift 9/13 - 1
4-72620716-T-A c.1143A>T p.S381= Synonymous 9/13 - 5
4-72620716-T-C c.1143A>G p.S381= Synonymous 9/13 - 10
4-72620716-T-G c.1143A>C p.S381= Synonymous 9/13 - 4
4-72620716-TG-AA c.1142_1143delinsTT p.S381F Missense 9/13 - 2
4-72620716-TG-AC c.1142_1143delinsGT p.S381C Missense 9/13 - 1
4-72620716-TGA-GTT c.1141_1143delinsAAC p.S381N Missense 9/13 - 1
4-72620716-T-TG c.1142dup p.T382Nfs*5 Frameshift 9/13 - 2
4-72620717-G-A c.1142C>T p.S381L Missense 9/13 - 9
4-72620717-GA-CC c.1141_1142delinsGG p.S381G Missense 9/13 - 1
4-72620717-G-C c.1142C>G p.S381* Nonsense 9/13 - 9
4-72620717-G-GC c.1141_1142insG p.S381Cfs*6 Frameshift 9/13 - 1
4-72620717-G-T c.1142C>A p.S381* Nonsense 9/13 - 6
4-72620717-TGAGTCTTCAACATCACAGCATTCA-T c.1119_1142del p.E374_S381del InFrameDeletion 9/13 - 1
4-72620717-TG-T c.1142del p.S381* Frameshift 9/13 - 1
4-72620716-TGA-T c.1141_1142del p.S381Nfs*5 Frameshift 9/13 - 1
4-72620717-G-GA c.1141dup p.S381Ffs*6 Frameshift 9/13 - 1
4-72620718-A-C c.1141T>G p.S381A Missense 9/13 - 4
4-72620718-A-G c.1141T>C p.S381P Missense 9/13 - 5
4-72620718-A-T c.1141T>A p.S381T Missense 9/13 - 3
4-72620718-GA-G c.1141del p.S381Qfs*12 Frameshift 9/13 - 1
4-72620718-A-AG c.1140dup p.S381Lfs*6 Frameshift 9/13 - 1
4-72620718-A-AGCATCTCCGAGCCCAC c.1140_1141insGTGGGCTCGGAGATGC p.S381Vfs*11 Frameshift 9/13 - 1
4-72620719-AGT-A c.1139_1140del p.D380Vfs*6 Frameshift 9/13 - 1
4-72620719-G-A c.1140C>T p.D380= Synonymous 9/13 - 7
4-72620719-G-C c.1140C>G p.D380E Missense 9/13 - 5
4-72620719-G-T c.1140C>A p.D380E Missense 9/13 - 4
4-72620718-AGTCTTCAACATCACAGCATTCACCAAGGCTTTTTAGGGTTG-A c.1100_1140del p.P367Lfs*6 Frameshift 9/13 - 1
4-72620719-G-GT c.1139dup p.D380Efs*7 Frameshift 9/13 - 3
4-72620720-GT-G c.1139del p.D380Afs*13 Frameshift 9/13 - 1
4-72620720-T-A c.1139A>T p.D380V Missense 9/13 - 2
4-72620720-T-C c.1139A>G p.D380G Missense 9/13 - 11
4-72620720-TC-CA c.1138_1139delinsTG p.D380C Missense 9/13 - 1
4-72620720-T-G c.1139A>C p.D380A Missense 9/13 - 5
4-72620720-T-TTGCTGGGGCTGGTGC c.1138_1139insGCACCAGCCCCAGCA p.D380delinsGTSPSN MultiAAMissense 9/13 - 1
4-72620720-T-TC c.1138dup p.D380Gfs*7 Frameshift 9/13 - 2
4-72620721-C-A c.1138G>T p.D380Y Missense 9/13 - 5
4-72620721-C-CA c.1137_1138insT p.D380* Nonsense 9/13 - 3
4-72620721-C-G c.1138G>C p.D380H Missense 9/13 - 5
4-72620721-C-T c.1138G>A p.D380N Missense 9/13 - 14
4-72620722-T-A c.1137A>T p.E379D Missense 9/13 - 4
4-72620722-T-C c.1137A>G p.E379= Synonymous 9/13 - 9
4-72620722-T-G c.1137A>C p.E379D Missense 9/13 - 1
4-72620722-T-TA c.1136_1137insT p.E379Dfs*8 Frameshift 9/13 - 1
4-72620722-T-TATTA c.1136_1137insTAAT p.E379Dfs*9 Frameshift 9/13 - 1
4-72620721-C-CT c.1137dup p.D380Rfs*7 Frameshift 9/13 - 1
4-72620721-CT-C c.1137del p.D380Tfs*13 Frameshift 9/13 - 2
4-72620723-T-A c.1136A>T p.E379V Missense 9/13 - 2
4-72620723-T-C c.1136A>G p.E379G Missense 9/13 - 2
4-72620723-TC-CT c.1135_1136delinsAG p.E379R Missense 9/13 - 1
4-72620723-T-G c.1136A>C p.E379A Missense 9/13 - 1
4-72620723-T-TC c.1135dup p.E379Gfs*8 Frameshift 9/13 - 1
4-72620723-T-TCCGCGC c.1135_1136insGCGCGG p.V378_E379insGA InFrameInsertion 9/13 - 1
4-72620723-T-TCG c.1135_1136insCG p.E379Afs*15 Frameshift 9/13 - 1
4-72620724-C-A c.1135G>T p.E379* Nonsense 9/13 - 5
4-72620724-C-G c.1135G>C p.E379Q Missense 9/13 - 3
4-72620724-C-T c.1135G>A p.E379K Missense 9/13 - 14
4-72620725-AAC-CAT c.1132_1134delinsATG p.V378M Missense 9/13 - 1
4-72620725-AA-CT c.1133_1134delinsAG p.V378E Missense 9/13 - 1
4-72620725-A-ACTCTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTAGCTTGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATC c.1133_1134insGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAAGCTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAGAG p.E379Ifs*7 Frameshift 9/13 - 1
4-72620725-AAC-TTA c.1132_1134delinsTAA p.V378* Nonsense 9/13 - 1
4-72620725-A-C c.1134T>G p.V378= Synonymous 9/13 - 5
4-72620725-A-G c.1134T>C p.V378= Synonymous 9/13 - 11
4-72620725-A-T c.1134T>A p.V378= Synonymous 9/13 - 5
4-72620721-CTTCAACATCACAGCA-C c.1123_1137del p.C375_E379del InFrameDeletion 9/13 - 1
4-72620723-TCAA-T c.1133_1135del p.V378del InFrameDeletion 9/13 - 1
4-72620724-CA-C c.1134del p.E379Kfs*14 Frameshift 9/13 - 3
4-72620724-C-CA c.1134dup p.E379* Nonsense 9/13 - 3
4-72620726-A-ATG c.1132_1133insCA p.V378Afs*16 Frameshift 9/13 - 1
4-72620726-A-C c.1133T>G p.V378G Missense 9/13 - 3
4-72620726-A-G c.1133T>C p.V378A Missense 9/13 - 9
4-72620726-A-T c.1133T>A p.V378D Missense 9/13 - 2
4-72620726-A-ACTGCT c.1132_1133insAGCAG p.V378Efs*17 Frameshift 9/13 - 1
4-72620727-C-A c.1132G>T p.V378F Missense 9/13 - 4
4-72620727-C-G c.1132G>C p.V378L Missense 9/13 - 1
4-72620727-C-T c.1132G>A p.V378I Missense 9/13 - 9
4-72620728-A-C c.1131T>G p.D377E Missense 9/13 - 2
4-72620728-A-G c.1131T>C p.D377= Synonymous 9/13 - 9
4-72620728-A-T c.1131T>A p.D377E Missense 9/13 - 3
4-72620728-ATC-TTA c.1129_1131delinsTAA p.D377* Nonsense 9/13 - 1
4-72620728-CA-C c.1131del p.D377Efs*16 Frameshift 9/13 - 1
4-72620728-CATCACA-C c.1126_1131del p.C376_D377del InFrameDeletion 9/13 - 1
4-72620725-AACATC-A c.1129_1133del p.D377* Frameshift 9/13 - 1
4-72620728-A-AT c.1130dup p.D377Efs*3 Frameshift 9/13 - 2
4-72620728-A-ATAG c.1130_1131insCTA p.D377_V378insY InFrameInsertion 9/13 - 1
4-72620729-AT-A c.1130del p.D377Vfs*16 Frameshift 9/13 - 3
4-72620729-ATC-A c.1129_1130del p.D377Cfs*2 Frameshift 9/13 - 1
4-72620729-T-A c.1130A>T p.D377V Missense 9/13 - 2
4-72620729-T-C c.1130A>G p.D377G Missense 9/13 - 6
4-72620729-TC-AA c.1129_1130delinsTT p.D377F Missense 9/13 - 1
4-72620729-TC-CA c.1129_1130delinsTG p.D377C Missense 9/13 - 3
4-72620729-TC-CT c.1129_1130delinsAG p.D377S Missense 9/13 - 1
4-72620729-TC-GT c.1129_1130delinsAC p.D377T Missense 9/13 - 1
4-72620729-T-G c.1130A>C p.D377A Missense 9/13 - 3
4-72620728-ATCACAGCATTCACCAAGGCTT-A c.1110_1130del p.K370_D377delinsN MultiAAMissense 9/13 - 1
4-72620729-T-TC c.1129dup p.D377Gfs*3 Frameshift 9/13 - 1
4-72620730-C-A c.1129G>T p.D377Y Missense 9/13 - 28
4-72620730-CA-G c.1128_1129delinsC p.D377Mfs*16 Frameshift 9/13 - 1
4-72620730-C-G c.1129G>C p.D377H Missense 9/13 - 5
4-72620730-C-T c.1129G>A p.D377N Missense 9/13 - 16
4-72620730-TCACAGCATTCACCA-T c.1116_1129del p.G373Cfs*2 Frameshift 9/13 - 1
4-72620730-C-CA c.1128dup p.D377* Nonsense 9/13 - 4
4-72620730-C-CAGCTCTCTCAAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAAA c.1128_1129insTTTTTTTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCTTGAGAGAGCT p.D377Ffs*42 Frameshift 9/13 - 1
4-72620731-A-AT c.1127_1128insA p.C376* Nonsense 9/13 - 1
4-72620731-A-C c.1128T>G p.C376W Missense 9/13 - 2
4-72620731-A-G c.1128T>C p.C376= Synonymous 9/13 - 10
4-72620731-A-T c.1128T>A p.C376* Nonsense 9/13 - 3
4-72620731-CA-C c.1128del p.C376Wfs*17 Frameshift 9/13 - 1
4-72620731-CACA-C c.1126_1128del p.C376del InFrameDeletion 9/13 - 1
4-72620729-TCACAGCATTCAC-T c.1118_1129del p.G373_C376del InFrameDeletion 9/13 - 1
4-72620729-TCA-T c.1128_1129del p.C376* Frameshift 9/13 - 1
4-72620731-A-ACTGGCTGGCCAGGTAGCGC c.1127_1128insGCGCTACCTGGCCAGCCAG p.C376Wfs*8 Frameshift 9/13 - 1
4-72620732-AC-A c.1127del p.C376Lfs*17 Frameshift 9/13 - 1
4-72620732-C-A c.1127G>T p.C376F Missense 9/13 - 7
4-72620732-CA-GT c.1126_1127delinsAC p.C376T Missense 9/13 - 3
4-72620732-C-G c.1127G>C p.C376S Missense 9/13 - 3
4-72620732-C-T c.1127G>A p.C376Y Missense 9/13 - 8
4-72620732-C-CA c.1126dup p.C376Lfs*2 Frameshift 9/13 - 1
4-72620732-C-CAAGTCAAGTCGATGTTGCTGTCCATCCCCGAAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAAA c.1126_1127insTTTTTTTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCTTCGGGGATGGACAGCAACATCGACTTGACTT p.C376Ffs*4 Frameshift 9/13 - 1
4-72620732-C-CACAT c.1126_1127insATGT p.C376Yfs*3 Frameshift 9/13 - 1
4-72620733-A-C c.1126T>G p.C376G Missense 9/13 - 3
4-72620733-A-G c.1126T>C p.C376R Missense 9/13 - 5
4-72620733-A-T c.1126T>A p.C376S Missense 9/13 - 2
4-72620733-CAGCATTCACCAAGGCTTTTTAGGGTTGGCTCAAGTACCTTACTGAGGAATACTTCCGGA-C c.1068_1126del p.P357* InFrameDeletion 9/13 - 1
4-72620733-A-AG c.1125dup p.C376Lfs*2 Frameshift 9/13 - 1
4-72620734-AG-A c.1125del p.C376Vfs*17 Frameshift 9/13 - 1
4-72620734-AGC-A c.1124_1125del p.C375Lfs*2 Frameshift 9/13 - 2
4-72620734-G-A c.1125C>T p.C375= Synonymous 9/13 - 6
4-72620734-G-C c.1125C>G p.C375W Missense 9/13 - 2
4-72620734-G-GTGCTGTTGTTGCTGGGGCCACTGTTGCTGTTGTTGCTGGGGCCACTGT c.1124_1125insACAGTGGCCCCAGCAACAACAGCAACAGTGGCCCCAGCAACAACAGCA p.C375delins* Nonsense 9/13 - 1
4-72620734-G-T c.1125C>A p.C375* Nonsense 9/13 - 3
4-72620734-G-GC c.1124dup p.C375Wfs*3 Frameshift 9/13 - 2
4-72620735-C-A c.1124G>T p.C375F Missense 9/13 - 1
4-72620735-CA-GC c.1123_1124delinsGC p.C375A Missense 9/13 - 2
4-72620735-CA-GT c.1123_1124delinsAC p.C375T Missense 9/13 - 2
4-72620735-C-CGCTGAGCTGGAGGCTTAAGCAGGACCAAGAG c.1123_1124insCTCTTGGTCCTGCTTAAGCCTCCAGCTCAGC p.C375Sfs*6 Frameshift 9/13 - 1
4-72620735-C-T c.1124G>A p.C375Y Missense 9/13 - 9
4-72620735-GCAT-G c.1122_1124del p.E374_C375delinsD MultiAAMissense 9/13 - 1
4-72620735-GC-G c.1124del p.C375Sfs*18 Frameshift 9/13 - 1
4-72620735-C-CA c.1123dup p.C375Lfs*3 Frameshift 9/13 - 1
4-72620736-A-AC c.1122_1123insG p.C375Vfs*3 Frameshift 9/13 - 1
4-72620736-A-C c.1123T>G p.C375G Missense 9/13 - 3
4-72620736-A-G c.1123T>C p.C375R Missense 9/13 - 4
4-72620736-A-T c.1123T>A p.C375S Missense 9/13 - 3
4-72620736-CA-C c.1123del p.C375Afs*18 Frameshift 9/13 - 1
4-72620736-A-ATG c.1122_1123insCA p.C375Hfs*19 Frameshift 9/13 - 1
4-72620737-T-A c.1122A>T p.E374D Missense 9/13 - 2
4-72620737-T-C c.1122A>G p.E374= Synonymous 9/13 - 8
4-72620737-T-G c.1122A>C p.E374D Missense 9/13 - 5
4-72620736-A-AT c.1122dup p.C375Mfs*3 Frameshift 9/13 - 1
4-72620736-AT-A c.1122del p.E374Dfs*19 Frameshift 9/13 - 1
4-72620738-T-A c.1121A>T p.E374V Missense 9/13 - 3
4-72620738-T-C c.1121A>G p.E374G Missense 9/13 - 4
4-72620738-TC-CT c.1120_1121delinsAG p.E374R Missense 9/13 - 2
4-72620738-TC-GA c.1120_1121inv p.E374S Missense 9/13 - 1
4-72620738-T-G c.1121A>C p.E374A Missense 9/13 - 2
4-72620738-T-TC c.1120dup p.E374Gfs*4 Frameshift 9/13 - 2
4-72620739-C-A c.1120G>T p.E374* Nonsense 9/13 - 6
4-72620739-C-CCAACACACACTGGGGTCTATTG c.1119_1120insCAATAGACCCCAGTGTGTGTTG p.E374Qfs*2 Frameshift 9/13 - 1
4-72620739-C-CCT c.1119_1120insAG p.E374Rfs*20 Frameshift 9/13 - 1
4-72620739-C-G c.1120G>C p.E374Q Missense 9/13 - 1
4-72620739-C-T c.1120G>A p.E374K Missense 9/13 - 12
4-72620739-TC-T c.1120del p.E374Nfs*19 Frameshift 9/13 - 1
4-72620739-C-CA c.1119dup p.E374* Nonsense 9/13 - 2
4-72620740-A-AAG c.1118_1119insCT p.E374Lfs*20 Frameshift 9/13 - 1
4-72620740-A-C c.1119T>G p.G373= Synonymous 9/13 - 3
4-72620740-ACC-TCA c.1117_1119delinsTGA p.G373* Nonsense 9/13 - 1
4-72620740-A-G c.1119T>C p.G373= Synonymous 9/13 - 8
4-72620740-A-T c.1119T>A p.G373= Synonymous 9/13 - 3
4-72620740-CA-C c.1119del p.E374Nfs*19 Frameshift 9/13 - 2
4-72620741-C-A c.1118G>T p.G373V Missense 9/13 - 6
4-72620741-CC-AG c.1117_1118delinsCT p.G373L Missense 9/13 - 1
4-72620741-C-G c.1118G>C p.G373A Missense 9/13 - 5
4-72620741-C-T c.1118G>A p.G373D Missense 9/13 - 9
4-72620740-A-AC c.1118dup p.E374* Nonsense 9/13 - 1
4-72620740-AC-A c.1118del p.G373Vfs*20 Frameshift 9/13 - 1
4-72620742-C-A c.1117G>T p.G373C Missense 9/13 - 5
4-72620742-C-CCAACACACACTGGGGTCTATTG c.1116_1117insCAATAGACCCCAGTGTGTGTTG p.G373Qfs*2 Frameshift 9/13 - 1
4-72620742-C-CG c.1116_1117insC p.G373Rfs*2 Frameshift 9/13 - 1
4-72620742-C-CGCGTGTCTGCCGAAGGATGTTGTGGCCGCGGCCGCAGCACATGCTGCCGCAGCCGTCGGGGCCCGCGCTGCTCTTGTTGCACAGGCGGCCCACGGTGCCCGCCGAGTCCAGGCGCGGCTCCCGCTCGCAGAAGTCAG c.1116_1117insCTGACTTCTGCGAGCGGGAGCCGCGCCTGGACTCGGCGGGCACCGTGGGCCGCCTGTGCAACAAGAGCAGCGCGGGCCCCGACGGCTGCGGCAGCATGTGCTGCGGCCGCGGCCACAACATCCTTCGGCAGACACGC p.G373Lfs*66 Frameshift 9/13 - 1
4-72620742-C-CGGGCTCAGGCTT c.1116_1117insAAGCCTGAGCCC p.L372_G373insKPEP InFrameInsertion 9/13 - 1
4-72620742-C-CT c.1116_1117insA p.G373Rfs*2 Frameshift 9/13 - 1
4-72620742-C-G c.1117G>C p.G373R Missense 9/13 - 1
4-72620742-C-T c.1117G>A p.G373S Missense 9/13 - 11
4-72620743-A-AGC c.1115_1116insGC p.G373Lfs*21 Frameshift 9/13 - 1
4-72620743-AAG-CAT c.1114_1116delinsATG p.L372M Missense 9/13 - 3
4-72620743-AAG-CTT c.1114_1116inv p.L372K Missense 9/13 - 1
4-72620743-AAG-TTA c.1114_1116delinsTAA p.L372* Nonsense 9/13 - 1
4-72620743-AA-TT c.1115_1116inv p.L372Q Missense 9/13 - 1
4-72620743-A-C c.1116T>G p.L372= Synonymous 9/13 - 4
4-72620743-A-G c.1116T>C p.L372= Synonymous 9/13 - 9
4-72620743-A-T c.1116T>A p.L372= Synonymous 9/13 - 4
4-72620743-CAA-C c.1115_1116del p.L372Rfs*2 Frameshift 9/13 - 1
4-72620743-CAAGGCTTTTTAG-C c.1105_1116del p.L369_L372del InFrameDeletion 9/13 - 1
4-72620742-CA-C c.1116del p.G373Vfs*20 Frameshift 9/13 - 1
4-72620742-C-CA c.1116dup p.G373Wfs*2 Frameshift 9/13 - 1
4-72620744-A-C c.1115T>G p.L372R Missense 9/13 - 1
4-72620744-A-G c.1115T>C p.L372P Missense 9/13 - 4
4-72620744-AG-CT c.1114_1115inv p.L372S Missense 9/13 - 1
4-72620744-AG-GC c.1114_1115delinsGC p.L372A Missense 9/13 - 1
4-72620744-A-T c.1115T>A p.L372H Missense 9/13 - 1
4-72620744-A-AGCG c.1114_1115insCGC p.S371_L372insP InFrameInsertion 9/13 - 3
4-72620745-AGGCTTTTTAGGGTTGGCTCAAGTACCTTACTGAGGAATACTTCCGGAAGATGAGTCCTT-A c.1056_1114del p.R352Sfs*3 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/13 - 1
4-72620745-G-A c.1114C>T p.L372F Missense 9/13 - 15
4-72620745-G-C c.1114C>G p.L372V Missense 9/13 - 8
4-72620745-G-GACGGGGT c.1113_1114insACCCCGT p.L372Tfs*5 Frameshift 9/13 - 1
4-72620745-G-T c.1114C>A p.L372I Missense 9/13 - 6
4-72620744-AG-A c.1114del p.G373Vfs*20 Frameshift 9/13 - 1
4-72620745-G-GGAAAA c.1113_1114insTTTTC p.L372Ffs*23 Frameshift 9/13 - 1
4-72620746-G-A c.1113C>T p.S371= Synonymous 9/13 - 12
4-72620746-G-C c.1113C>G p.S371R Missense 9/13 - 6
4-72620746-GC-CT c.1112_1113delinsAG p.S371K Missense 9/13 - 1
4-72620746-GCT-CTC c.1111_1113delinsGAG p.S371E Missense 9/13 - 2
4-72620746-GCT-TCA c.1111_1113delinsTGA p.S371* Nonsense 9/13 - 2
4-72620746-GGCT-G c.1111_1113del p.S371del InFrameDeletion 9/13 - 2
4-72620746-GGCTT-G c.1110_1113del p.K370Nfs*22 Frameshift 9/13 - 1
4-72620746-G-T c.1113C>A p.S371R Missense 9/13 - 5
4-72620746-G-GC c.1112dup p.S371Rfs*4 Frameshift 9/13 - 1
4-72620747-C-A c.1112G>T p.S371I Missense 9/13 - 2
4-72620747-C-G c.1112G>C p.S371T Missense 9/13 - 2
4-72620747-C-T c.1112G>A p.S371N Missense 9/13 - 16
4-72620747-CT-AA c.1111_1112delinsTT p.S371F Missense 9/13 - 10
4-72620747-CT-AG c.1111_1112inv p.S371L Missense 9/13 - 28
4-72620747-CT-GC c.1111_1112delinsGC p.S371A Missense 9/13 - 3
4-72620747-CT-GG c.1111_1112delinsCC p.S371P Missense 9/13 - 5
4-72620747-CT-TG c.1111_1112delinsCA p.S371H Missense 9/13 - 1
4-72620748-T-A c.1111A>T p.S371C Missense 9/13 - 3
4-72620748-T-C c.1111A>G p.S371G Missense 9/13 - 7
4-72620748-T-G c.1111A>C p.S371R Missense 9/13 - 5
4-72620748-T-TA c.1110_1111insT p.S371* Nonsense 9/13 - 1
4-72620747-C-CTTCTTGCAA c.1111_1112insTTGCAAGAA p.K370_S371insIAR InFrameInsertion 9/13 - 1
4-72620749-T-A c.1110A>T p.K370N Missense 9/13 - 6
4-72620749-T-C c.1110A>G p.K370= Synonymous 9/13 - 7
4-72620749-T-CAGCTGCTGCTGCTGG c.1110delinsCCAGCAGCAGCAGCTG p.K370delinsNQQQQL MultiAAMissense 9/13 - 1
4-72620749-T-G c.1110A>C p.K370N Missense 9/13 - 5
4-72620749-TT-CA c.1109_1110delinsTG p.K370M Missense 9/13 - 1
4-72620749-TT-GC c.1109_1110delinsGC p.K370S Missense 9/13 - 1
4-72620747-CTTT-C c.1109_1111del p.K370del InFrameDeletion 9/13 - 1
4-72620750-T-C c.1109A>G p.K370R Missense 9/13 - 7
4-72620750-T-G c.1109A>C p.K370T Missense 9/13 - 1
4-72620750-TT-CC c.1108_1109delinsGG p.K370G Missense 9/13 - 1
4-72620747-CTT-C c.1110_1111del p.S371Pfs*3 Frameshift 9/13 - 2
4-72620751-T-A c.1108A>T p.K370* Nonsense 9/13 - 2
4-72620751-T-C c.1108A>G p.K370E Missense 9/13 - 5
4-72620751-T-G c.1108A>C p.K370Q Missense 9/13 - 9
4-72620751-T-TA c.1107_1108insT p.K370* Nonsense 9/13 - 2
4-72620751-T-TG c.1107_1108insC p.K370Qfs*5 Frameshift 9/13 - 1
4-72620751-TT-GC c.1107_1108delinsGC p.K370Q Missense 9/13 - 1
4-72620747-C-CT c.1111dup p.S371Kfs*4 Frameshift 9/13 - 3
4-72620747-CT-C c.1111del p.S371Afs*22 Frameshift 9/13 - 4
4-72620752-T-A c.1107A>T p.L369= Synonymous 9/13 - 6
4-72620752-TA-AT c.1106_1107delinsAT p.L369H Missense 9/13 - 1
4-72620752-TAG-AAA c.1105_1107delinsTTT p.L369F Missense 9/13 - 3
4-72620752-TAG-CAT c.1105_1107delinsATG p.L369M Missense 9/13 - 1
4-72620752-T-C c.1107A>G p.L369= Synonymous 9/13 - 8
4-72620752-T-G c.1107A>C p.L369= Synonymous 9/13 - 9
4-72620752-TTAGGGTTGGCTCAA-T c.1094_1107del p.L365Qfs*5 Frameshift 9/13 - 1
4-72620752-T-TA c.1106dup p.S371Kfs*4 Frameshift 9/13 - 1
4-72620753-A-ATT c.1105_1106insAA p.L369Qfs*2 Frameshift 9/13 - 1
4-72620753-A-C c.1106T>G p.L369R Missense 9/13 - 3
4-72620753-A-G c.1106T>C p.L369P Missense 9/13 - 3
4-72620753-A-T c.1106T>A p.L369Q Missense 9/13 - 3
4-72620753-TA-T c.1106del p.L369Qfs*24 Frameshift 9/13 - 1
4-72620753-A-AGC c.1105_1106insGC p.L369Rfs*2 Frameshift 9/13 - 1
4-72620754-G-A c.1105C>T p.L369= Synonymous 9/13 - 8
4-72620754-G-C c.1105C>G p.L369V Missense 9/13 - 4
4-72620754-G-T c.1105C>A p.L369I Missense 9/13 - 3
4-72620755-G-A c.1104C>T p.T368= Synonymous 9/13 - 14
4-72620755-G-C c.1104C>G p.T368= Synonymous 9/13 - 4
4-72620755-GG-CA c.1103_1104delinsTG p.T368M Missense 9/13 - 1
4-72620755-GGT-CTC c.1102_1104delinsGAG p.T368E Missense 9/13 - 1
4-72620755-G-T c.1104C>A p.T368= Synonymous 9/13 - 4
4-72620753-A-AG c.1105dup p.L369Pfs*6 Frameshift 9/13 - 4
4-72620756-G-A c.1103C>T p.T368I Missense 9/13 - 14
4-72620756-G-C c.1103C>G p.T368S Missense 9/13 - 4
4-72620756-G-T c.1103C>A p.T368N Missense 9/13 - 4
4-72620756-GT-AG c.1102_1103delinsCT p.T368L Missense 9/13 - 1
4-72620756-GT-CA c.1102_1103delinsTG p.T368C Missense 9/13 - 1
4-72620757-T-A c.1102A>T p.T368S Missense 9/13 - 2
4-72620757-T-C c.1102A>G p.T368A Missense 9/13 - 9
4-72620757-T-G c.1102A>C p.T368P Missense 9/13 - 2
4-72620756-G-GT c.1102dup p.T368Nfs*7 Frameshift 9/13 - 2
4-72620756-GT-G c.1102del p.T368Pfs*2 Frameshift 9/13 - 2
4-72620758-T-A c.1101A>T p.P367= Synonymous 9/13 - 8
4-72620758-T-C c.1101A>G p.P367= Synonymous 9/13 - 9
4-72620758-T-G c.1101A>C p.P367= Synonymous 9/13 - 4
4-72620758-TG-AT c.1100_1101delinsAT p.P367H Missense 9/13 - 1
4-72620758-TGG-GCTCAT c.1099_1101delinsATGAGC p.P367delinsMS MultiAAMissense 9/13 - 1
4-72620758-TTGG-T c.1099_1101del p.P367del InFrameDeletion 9/13 - 1
4-72620759-G-A c.1100C>T p.P367L Missense 9/13 - 9
4-72620759-G-C c.1100C>G p.P367R Missense 9/13 - 2
4-72620759-G-T c.1100C>A p.P367Q Missense 9/13 - 3
4-72620759-TGGCTCAAGTACCTTACTGAGGAATACTTCCGGAAGATGAGTCCTTCTGCTTAGTTCAAA-T c.1042_1100del p.F348Nfs*7 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/13 - 1
4-72620758-T-TG c.1100dup p.T368Nfs*7 Frameshift 9/13 - 1
4-72620760-G-A c.1099C>T p.P367S Missense 9/13 - 10
4-72620760-G-C c.1099C>G p.P367A Missense 9/13 - 2
4-72620760-GGCT-G c.1097_1099del p.E366_P367delinsA MultiAAMissense 9/13 - 1
4-72620760-G-T c.1099C>A p.P367T Missense 9/13 - 1
4-72620759-GGCTCAA-G c.1094_1099del p.L365_E366del InFrameDeletion 9/13 - 1
4-72620760-G-GC c.1098dup p.P367Afs*8 Frameshift 9/13 - 2
4-72620761-C-A c.1098G>T p.E366D Missense 9/13 - 5
4-72620761-C-CAT c.1097_1098insAT p.P367Cfs*4 Frameshift 9/13 - 1
4-72620761-C-G c.1098G>C p.E366D Missense 9/13 - 4
4-72620761-C-T c.1098G>A p.E366= Synonymous 9/13 - 8
4-72620761-GC-G c.1098del p.E366Dfs*4 Frameshift 9/13 - 1
4-72620760-GCT-G c.1097_1098del p.E366Afs*8 Frameshift 9/13 - 1
4-72620761-C-CT c.1097dup p.P367Afs*8 Frameshift 9/13 - 1
4-72620762-CT-C c.1097del p.E366Gfs*4 Frameshift 9/13 - 1
4-72620762-T-A c.1097A>T p.E366V Missense 9/13 - 2
4-72620762-T-C c.1097A>G p.E366G Missense 9/13 - 4
4-72620762-TC-GA c.1096_1097inv p.E366S Missense 9/13 - 1
4-72620762-T-G c.1097A>C p.E366A Missense 9/13 - 3
4-72620762-T-TTC c.1096_1097insGA p.E366Gfs*5 Frameshift 9/13 - 1
4-72620762-T-TC c.1096dup p.E366Gfs*9 Frameshift 9/13 - 1
4-72620762-T-TCTGCCAA c.1096_1097insTTGGCAG p.E366Vfs*11 Frameshift 9/13 - 1
4-72620763-C-A c.1096G>T p.E366* Nonsense 9/13 - 7
4-72620763-C-CCTT c.1095_1096insAAG p.L365_E366insK InFrameInsertion 9/13 - 1
4-72620763-C-CTGCCAAT c.1095_1096insATTGGCA p.E366Ifs*11 Frameshift 9/13 - 1
4-72620763-C-G c.1096G>C p.E366Q Missense 9/13 - 4
4-72620763-C-T c.1096G>A p.E366K Missense 9/13 - 11
4-72620763-TCA-T c.1095_1096del p.E366Afs*8 Frameshift 9/13 - 2
4-72620763-TC-T c.1096del p.E366Sfs*4 Frameshift 9/13 - 1
4-72620764-AAG-CAT c.1093_1095delinsATG p.L365M Missense 9/13 - 2
4-72620764-AAG-TTA c.1093_1095delinsTAA p.L365* Nonsense 9/13 - 1
4-72620764-A-C c.1095T>G p.L365= Synonymous 9/13 - 7
4-72620764-A-G c.1095T>C p.L365= Synonymous 9/13 - 11
4-72620764-A-T c.1095T>A p.L365= Synonymous 9/13 - 10
4-72620764-CAAG-C c.1093_1095del p.L365del InFrameDeletion 9/13 - 1
4-72620763-CA-C c.1095del p.E366Sfs*4 Frameshift 9/13 - 2
4-72620763-C-CA c.1095dup p.E366* Nonsense 9/13 - 1
4-72620765-AAG-A c.1093_1094del p.L365* Frameshift 9/13 - 1
4-72620765-A-C c.1094T>G p.L365R Missense 9/13 - 1
4-72620765-A-G c.1094T>C p.L365P Missense 9/13 - 5
4-72620765-A-T c.1094T>A p.L365H Missense 9/13 - 3
4-72620765-A-AG c.1093dup p.L365Pfs*2 Frameshift 9/13 - 1
4-72620766-G-A c.1093C>T p.L365F Missense 9/13 - 16
4-72620766-G-C c.1093C>G p.L365V Missense 9/13 - 3
4-72620766-G-GATC c.1092_1093insGAT p.V364_L365insD InFrameInsertion 9/13 - 1
4-72620766-G-T c.1093C>A p.L365I Missense 9/13 - 4
4-72620766-G-GT c.1092dup p.L365Tfs*2 Frameshift 9/13 - 1
4-72620767-GTACCTTACT-G c.1084_1092del p.S362_V364del InFrameDeletion 9/13 - 1
4-72620767-GT-G c.1092del p.E366Sfs*4 Frameshift 9/13 - 2
4-72620767-T-A c.1092A>T p.V364= Synonymous 9/13 - 7
4-72620767-TAC-AAA c.1090_1092delinsTTT p.V364F Missense 9/13 - 3
4-72620767-TAC-CAT c.1090_1092delinsATG p.V364M Missense 9/13 - 5
4-72620767-T-C c.1092A>G p.V364= Synonymous 9/13 - 6
4-72620767-T-G c.1092A>C p.V364= Synonymous 9/13 - 5
4-72620767-T-TGAGG c.1091_1092insCCTC p.E366Tfs*2 Frameshift 9/13 - 1
4-72620767-T-TTTTC c.1091_1092insGAAA p.L365Kfs*3 Frameshift 9/13 - 1
4-72620767-T-TAGCTCTCA c.1091_1092insTGAGAGCT p.L365Efs*8 Frameshift 9/13 - 1
4-72620768-A-C c.1091T>G p.V364G Missense 9/13 - 4
4-72620768-AC-TT c.1090_1091delinsAA p.V364K Missense 9/13 - 1
4-72620768-A-G c.1091T>C p.V364A Missense 9/13 - 5
4-72620768-A-T c.1091T>A p.V364E Missense 9/13 - 3
4-72620768-TA-T c.1091del p.V364Dfs*6 Frameshift 9/13 - 1
4-72620769-ACCTT-A c.1087_1090del p.K363Yfs*6 Frameshift 9/13 - 1
4-72620769-C-A c.1090G>T p.V364L Missense 9/13 - 4
4-72620769-C-G c.1090G>C p.V364L Missense 9/13 - 2
4-72620769-C-T c.1090G>A p.V364I Missense 9/13 - 13
4-72620768-A-AC c.1090dup p.V364Gfs*3 Frameshift 9/13 - 3
4-72620768-AC-A c.1090del p.V364Yfs*6 Frameshift 9/13 - 2
4-72620770-C-A c.1089G>T p.K363N Missense 9/13 - 8
4-72620770-C-G c.1089G>C p.K363N Missense 9/13 - 6
4-72620770-C-T c.1089G>A p.K363= Synonymous 9/13 - 10
4-72620770-CT-GA c.1088_1089delinsTC p.K363I Missense 9/13 - 1
4-72620771-T-A c.1088A>T p.K363M Missense 9/13 - 2
4-72620771-T-C c.1088A>G p.K363R Missense 9/13 - 5
4-72620771-T-G c.1088A>C p.K363T Missense 9/13 - 3
4-72620771-T-TG c.1087_1088insC p.K363Tfs*4 Frameshift 9/13 - 1
4-72620771-TT-GC c.1087_1088delinsGC p.K363A Missense 9/13 - 1
4-72620770-C-CT c.1088dup p.V364Gfs*3 Frameshift 9/13 - 1
4-72620770-CT-C c.1088del p.K363Rfs*7 Frameshift 9/13 - 2
4-72620772-T-A c.1087A>T p.K363* Nonsense 9/13 - 3
4-72620772-T-C c.1087A>G p.K363E Missense 9/13 - 9
4-72620772-T-G c.1087A>C p.K363Q Missense 9/13 - 4
4-72620772-T-TA c.1086dup p.K363* Nonsense 9/13 - 3
4-72620772-T-TAGCTGAGGGTGG c.1086_1087insCCACCCTCAGCT p.S362_K363insPPSA InFrameInsertion 9/13 - 1
4-72620773-A-C c.1086T>G p.S362R Missense 9/13 - 2
4-72620773-ACT-CCA c.1084_1086delinsTGG p.S362W Missense 9/13 - 1
4-72620773-ACT-CTC c.1084_1086delinsGAG p.S362E Missense 9/13 - 1
4-72620773-A-G c.1086T>C p.S362= Synonymous 9/13 - 9
4-72620773-A-T c.1086T>A p.S362R Missense 9/13 - 3
4-72620773-TA-T c.1086del p.S362Rfs*8 Frameshift 9/13 - 2
4-72620774-AC-A c.1085del p.S362Ifs*8 Frameshift 9/13 - 2
4-72620774-ACT-A c.1084_1085del p.S362* Frameshift 9/13 - 1
4-72620774-ACTGAGGAATACTTCCGGAAGATGAGTCCTTCTGCTTAGTTCAAATGTATACCTAGCATG-A c.1035-8_1085del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/13 8/12 1
4-72620774-C-A c.1085G>T p.S362I Missense 9/13 - 3
4-72620774-C-CCTT c.1084_1085insAAG p.S362delinsKG MultiAAMissense 9/13 - 1
4-72620774-C-G c.1085G>C p.S362T Missense 9/13 - 4
4-72620774-C-T c.1085G>A p.S362N Missense 9/13 - 7
4-72620774-CT-AA c.1084_1085delinsTT p.S362F Missense 9/13 - 1
4-72620774-CT-AG c.1084_1085inv p.S362L Missense 9/13 - 1
4-72620774-CT-GC c.1084_1085delinsGC p.S362A Missense 9/13 - 5
4-72620774-CT-GG c.1084_1085delinsCC p.S362P Missense 9/13 - 2
4-72620774-CT-TA c.1084_1085delinsTA p.S362Y Missense 9/13 - 1
4-72620774-CT-TC c.1084_1085delinsGA p.S362D Missense 9/13 - 1
4-72620773-A-ACTC c.1085_1086insGAG p.L361_S362insR InFrameInsertion 9/13 - 1
4-72620774-C-CT c.1084dup p.S362Kfs*2 Frameshift 9/13 - 1
4-72620774-C-CTCT c.1084_1085insAGA p.L361_S362insK InFrameInsertion 9/13 - 1
4-72620775-CT-C c.1084del p.S362Vfs*8 Frameshift 9/13 - 1
4-72620775-T-A c.1084A>T p.S362C Missense 9/13 - 1
4-72620775-T-C c.1084A>G p.S362G Missense 9/13 - 6
4-72620775-T-G c.1084A>C p.S362R Missense 9/13 - 2
4-72620775-T-TA c.1083_1084insT p.S362* Nonsense 9/13 - 1
4-72620775-T-TAC c.1083_1084insGT p.S362Vfs*9 Frameshift 9/13 - 1
4-72620775-T-TG c.1083dup p.S362Qfs*2 Frameshift 9/13 - 2
4-72620776-G-A c.1083C>T p.L361= Synonymous 9/13 - 11
4-72620776-GAG-CATAAAAAA c.1081_1083delinsTTTTTTATG p.L361delinsFFM MultiAAMissense 9/13 - 1
4-72620776-GAG-TTA c.1081_1083delinsTAA p.L361* Nonsense 9/13 - 1
4-72620776-G-C c.1083C>G p.L361= Synonymous 9/13 - 8
4-72620776-G-GTTC c.1082_1083insGAA p.L361_S362insN InFrameInsertion 9/13 - 1
4-72620776-G-T c.1083C>A p.L361= Synonymous 9/13 - 7
4-72620773-ACTGAGGAATACTTCCGGAAGATGAGTCCTT-A c.1056_1085del p.R352_L361del InFrameDeletion 9/13 - 1
4-72620776-G-GA c.1082dup p.S362Qfs*2 Frameshift 9/13 - 1
4-72620777-A-C c.1082T>G p.L361R Missense 9/13 - 1
4-72620777-A-G c.1082T>C p.L361P Missense 9/13 - 5
4-72620777-AG-CT c.1081_1082inv p.L361S Missense 9/13 - 2
4-72620777-AG-GC c.1081_1082delinsGC p.L361A Missense 9/13 - 1
4-72620777-AG-TT c.1081_1082delinsAA p.L361N Missense 9/13 - 1
4-72620777-A-T c.1082T>A p.L361H Missense 9/13 - 3
4-72620777-GA-G c.1082del p.L361Pfs*9 Frameshift 9/13 - 3
4-72620775-TGAG-T c.1081_1083del p.L361del InFrameDeletion 9/13 - 1
4-72620778-G-A c.1081C>T p.L361F Missense 9/13 - 14
4-72620778-G-C c.1081C>G p.L361V Missense 9/13 - 1
4-72620778-G-GTAGTTTGT c.1080_1081insACAAACTA p.L361Tfs*12 Frameshift 9/13 - 1
4-72620778-G-T c.1081C>A p.L361I Missense 9/13 - 2
4-72620777-A-AG c.1081dup p.L361Pfs*3 Frameshift 9/13 - 1
4-72620777-A-AGGGCC c.1081_1082insGGCCC p.L361Rfs*11 Frameshift 9/13 - 1
4-72620779-G-A c.1080C>T p.F360= Synonymous 9/13 - 12
4-72620779-GA-TT c.1079_1080delinsAA p.F360* Nonsense 9/13 - 1
4-72620779-G-C c.1080C>G p.F360L Missense 9/13 - 5
4-72620779-G-T c.1080C>A p.F360L Missense 9/13 - 5
4-72620780-AA-GC c.1078_1079delinsGC p.F360A Missense 9/13 - 1
4-72620780-A-AGGC c.1078_1079insGCC p.F360delinsCL MultiAAMissense 9/13 - 1
4-72620780-AA-GT c.1078_1079delinsAC p.F360T Missense 9/13 - 1
4-72620780-AA-TC c.1078_1079delinsGA p.F360D Missense 9/13 - 1
4-72620780-A-C c.1079T>G p.F360C Missense 9/13 - 4
4-72620780-A-G c.1079T>C p.F360S Missense 9/13 - 4
4-72620780-A-T c.1079T>A p.F360Y Missense 9/13 - 3
4-72620780-GAA-G c.1078_1079del p.F360Pfs*3 Frameshift 9/13 - 1
4-72620779-GAAT-G c.1077_1079del p.F360del InFrameDeletion 9/13 - 1
4-72620779-GA-G c.1079del p.F360Sfs*10 Frameshift 9/13 - 1
4-72620779-G-GA c.1079dup p.L361Pfs*3 Frameshift 9/13 - 1
4-72620781-A-C c.1078T>G p.F360V Missense 9/13 - 3
4-72620781-A-G c.1078T>C p.F360L Missense 9/13 - 8
4-72620781-A-T c.1078T>A p.F360I Missense 9/13 - 1
4-72620782-ATACTTCCGGAAG-A c.1066_1077del p.L356_V359del InFrameDeletion 9/13 - 1
4-72620782-T-A c.1077A>T p.V359= Synonymous 9/13 - 8
4-72620782-TAC-AAA c.1075_1077delinsTTT p.V359F Missense 9/13 - 1
4-72620782-TAC-CAT c.1075_1077delinsATG p.V359M Missense 9/13 - 2
4-72620782-TA-GT c.1076_1077delinsAC p.V359D Missense 9/13 - 2
4-72620782-T-C c.1077A>G p.V359= Synonymous 9/13 - 7
4-72620782-T-G c.1077A>C p.V359= Synonymous 9/13 - 7
4-72620782-T-TA c.1076dup p.F360Ifs*4 Frameshift 9/13 - 1
4-72620783-A-AGTATG c.1075_1076insCATAC p.V359Afs*13 Frameshift 9/13 - 1
4-72620783-A-ATGC c.1075_1076insGCA p.V359delinsGI MultiAAMissense 9/13 - 1
4-72620783-A-C c.1076T>G p.V359G Missense 9/13 - 2
4-72620783-AC-GA c.1075_1076delinsTC p.V359S Missense 9/13 - 1
4-72620783-AC-GT c.1075_1076inv p.V359T Missense 9/13 - 1
4-72620783-AC-TA c.1075_1076delinsTA p.V359* Nonsense 9/13 - 1
4-72620783-A-G c.1076T>C p.V359A Missense 9/13 - 8
4-72620783-A-T c.1076T>A p.V359E Missense 9/13 - 3
4-72620783-TA-T c.1076del p.V359Dfs*11 Frameshift 9/13 - 1
4-72620783-A-AC c.1075dup p.V359Gfs*5 Frameshift 9/13 - 1
4-72620784-AC-A c.1075del p.V359Yfs*11 Frameshift 9/13 - 1
4-72620784-C-A c.1075G>T p.V359L Missense 9/13 - 6
4-72620784-C-CA c.1074_1075insT p.V359Cfs*5 Frameshift 9/13 - 1
4-72620784-C-G c.1075G>C p.V359L Missense 9/13 - 6
4-72620784-C-T c.1075G>A p.V359I Missense 9/13 - 15
4-72620783-ACTT-A c.1073_1075del p.E358del InFrameDeletion 9/13 - 1
4-72620785-CTT-C c.1073_1074del p.E358Gfs*5 Frameshift 9/13 - 2
4-72620785-T-A c.1074A>T p.E358D Missense 9/13 - 8
4-72620785-T-C c.1074A>G p.E358= Synonymous 9/13 - 7
4-72620785-T-G c.1074A>C p.E358D Missense 9/13 - 7
4-72620784-C-CT c.1074dup p.V359Sfs*5 Frameshift 9/13 - 1
4-72620784-CT-C c.1074del p.V359Yfs*11 Frameshift 9/13 - 1
4-72620786-T-A c.1073A>T p.E358V Missense 9/13 - 1
4-72620786-T-C c.1073A>G p.E358G Missense 9/13 - 6
4-72620786-TC-GA c.1072_1073inv p.E358S Missense 9/13 - 1
4-72620786-T-G c.1073A>C p.E358A Missense 9/13 - 4
4-72620786-T-TA c.1072_1073insT p.E358Vfs*6 Frameshift 9/13 - 1
4-72620786-TTCC-T c.1071_1073del p.E358del InFrameDeletion 9/13 - 1
4-72620787-C-A c.1072G>T p.E358* Nonsense 9/13 - 4
4-72620787-C-CA c.1071_1072insT p.E358* Nonsense 9/13 - 1
4-72620787-C-G c.1072G>C p.E358Q Missense 9/13 - 3
4-72620787-C-T c.1072G>A p.E358K Missense 9/13 - 10
4-72620785-T-TTCCCTTGTCGGCGGACCAGAACTTTGTGTTTTTGCAAGGACTGGAG c.1073_1074insCTCCAGTCCTTGCAAAAACACAAAGTTCTGGTCCGCCGACAAGGGA p.E358Dfs*21 Frameshift 9/13 - 1
4-72620786-TC-T c.1072del p.E358Kfs*12 Frameshift 9/13 - 1
4-72620786-T-TC c.1072dup p.E358Gfs*6 Frameshift 9/13 - 3
4-72620787-C-CCCTTTCGGCTCTTTCCCCTCTG c.1071_1072insCAGAGGGGAAAGAGCCGAAAGG p.E358Qfs*13 Frameshift 9/13 - 1
4-72620788-C-A c.1071G>T p.P357= Synonymous 9/13 - 4
4-72620788-CCGG-C c.1069_1071del p.P357del InFrameDeletion 9/13 - 2
4-72620788-C-G c.1071G>C p.P357= Synonymous 9/13 - 7
4-72620788-C-T c.1071G>A p.P357= Synonymous 9/13 - 14
4-72620789-G-A c.1070C>T p.P357L Missense 9/13 - 17
4-72620789-G-C c.1070C>G p.P357R Missense 9/13 - 1
4-72620789-G-GA c.1069_1070insT p.P357Lfs*7 Frameshift 9/13 - 1
4-72620789-G-GTA c.1069_1070insTA p.P357Lfs*14 Frameshift 9/13 - 1
4-72620789-G-T c.1070C>A p.P357Q Missense 9/13 - 1
4-72620788-C-CG c.1070dup p.E358Gfs*6 Frameshift 9/13 - 1
4-72620788-CG-C c.1070del p.P357Rfs*13 Frameshift 9/13 - 1
4-72620790-G-A c.1069C>T p.P357S Missense 9/13 - 12
4-72620790-G-C c.1069C>G p.P357A Missense 9/13 - 1
4-72620790-G-T c.1069C>A p.P357T Missense 9/13 - 4
4-72620790-G-GAC c.1068_1069insGT p.P357Vfs*14 Frameshift 9/13 - 1
4-72620791-AA-TT c.1067_1068inv p.L356Q Missense 9/13 - 1
4-72620791-A-C c.1068T>G p.L356= Synonymous 9/13 - 7
4-72620791-A-G c.1068T>C p.L356= Synonymous 9/13 - 14
4-72620791-A-T c.1068T>A p.L356= Synonymous 9/13 - 6
4-72620789-GGAAGAT-G c.1064_1069del p.H355_L356del InFrameDeletion 9/13 - 1
4-72620790-GA-G c.1068del p.P357Rfs*13 Frameshift 9/13 - 2
4-72620790-G-GA c.1068dup p.P357Sfs*7 Frameshift 9/13 - 2
4-72620792-A-C c.1067T>G p.L356R Missense 9/13 - 2
4-72620792-A-G c.1067T>C p.L356P Missense 9/13 - 2
4-72620792-AG-TC c.1066_1067delinsGA p.L356D Missense 9/13 - 1
4-72620792-A-T c.1067T>A p.L356H Missense 9/13 - 2
4-72620792-A-AG c.1066dup p.L356Pfs*8 Frameshift 9/13 - 1
4-72620793-G-A c.1066C>T p.L356F Missense 9/13 - 14
4-72620793-G-C c.1066C>G p.L356V Missense 9/13 - 3
4-72620793-G-GGGC c.1065_1066insGCC p.H355_L356insA InFrameInsertion 9/13 - 1
4-72620793-G-GT c.1065_1066insA p.L356Tfs*8 Frameshift 9/13 - 1
4-72620793-G-T c.1066C>A p.L356I Missense 9/13 - 2
4-72620794-A-AGCGGTAGGAGTG c.1064_1065insCACTCCTACCGC p.H355_L356insTPTA InFrameInsertion 9/13 - 1
4-72620794-A-C c.1065T>G p.H355Q Missense 9/13 - 7
4-72620794-A-G c.1065T>C p.H355= Synonymous 9/13 - 9
4-72620794-A-T c.1065T>A p.H355Q Missense 9/13 - 5
4-72620794-ATG-TTA c.1063_1065delinsTAA p.H355* Nonsense 9/13 - 1
4-72620794-GA-G c.1065del p.L356Ffs*14 Frameshift 9/13 - 1
4-72620794-A-AT c.1064dup p.H355Qfs*9 Frameshift 9/13 - 1
4-72620794-A-ATTC c.1064_1065insGAA p.H355delinsQN MultiAAMissense 9/13 - 1
4-72620795-AT-A c.1064del p.H355Lfs*15 Frameshift 9/13 - 2
4-72620795-T-A c.1064A>T p.H355L Missense 9/13 - 2
4-72620795-T-C c.1064A>G p.H355R Missense 9/13 - 8
4-72620795-T-G c.1064A>C p.H355P Missense 9/13 - 1
4-72620795-TG-AA c.1063_1064delinsTT p.H355F Missense 9/13 - 2
4-72620795-TG-GC c.1063_1064delinsGC p.H355A Missense 9/13 - 2
4-72620795-T-TAGCAAAA c.1063_1064insTTTTGCT p.H355Lfs*11 Frameshift 9/13 - 1
4-72620795-T-TG c.1063dup p.H355Pfs*9 Frameshift 9/13 - 2
4-72620796-G-A c.1063C>T p.H355Y Missense 9/13 - 8
4-72620796-G-C c.1063C>G p.H355D Missense 9/13 - 1
4-72620796-G-GCCCGCCCAGTCCCTAGACCATGGA c.1062_1063insTCCATGGTCTAGGGACTGGGCGGG p.T354_H355insSMV* Frameshift 9/13 - 1
4-72620796-G-T c.1063C>A p.H355N Missense 9/13 - 4
4-72620796-TG-T c.1063del p.H355Ifs*15 Frameshift 9/13 - 3
4-72620796-G-GA c.1062dup p.H355Sfs*9 Frameshift 9/13 - 2
4-72620797-A-C c.1062T>G p.T354= Synonymous 9/13 - 4
4-72620797-A-G c.1062T>C p.T354= Synonymous 9/13 - 12
4-72620797-AG-CT c.1061_1062inv p.T354K Missense 9/13 - 1
4-72620797-AGT-TTA c.1060_1062delinsTAA p.T354* Nonsense 9/13 - 1
4-72620797-A-T c.1062T>A p.T354= Synonymous 9/13 - 3
4-72620797-GA-G c.1062del p.H355Ifs*15 Frameshift 9/13 - 2
4-72620797-GAGTCCTTC-G c.1055_1062del p.R352Tfs*9 Frameshift 9/13 - 1
4-72620797-A-AG c.1061dup p.H355Sfs*9 Frameshift 9/13 - 1
4-72620798-AGTC-A c.1059_1061del p.R353_T354delinsS MultiAAMissense 9/13 - 1
4-72620798-G-A c.1061C>T p.T354I Missense 9/13 - 13
4-72620798-G-C c.1061C>G p.T354S Missense 9/13 - 6
4-72620798-G-GC c.1060_1061insG p.T354Sfs*10 Frameshift 9/13 - 1
4-72620798-G-GCGCCCAGTCCCTAGACCATGGCCA c.1060_1061insTGGCCATGGTCTAGGGACTGGGCG p.T354delinsMAMV* Frameshift 9/13 - 1
4-72620798-G-T c.1061C>A p.T354N Missense 9/13 - 3
4-72620798-GT-AC c.1060_1061inv p.T354V Missense 9/13 - 1
4-72620798-GT-CA c.1060_1061delinsTG p.T354C Missense 9/13 - 1
4-72620798-GT-CC c.1060_1061delinsGG p.T354G Missense 9/13 - 2
4-72620799-T-A c.1060A>T p.T354S Missense 9/13 - 3
4-72620798-G-GT c.1060dup p.T354Nfs*10 Frameshift 9/13 - 1
4-72620799-GT-G c.1060del p.T354Lfs*16 Frameshift 9/13 - 1
4-72620799-T-C c.1060A>G p.T354A Missense 9/13 - 5
4-72620799-T-G c.1060A>C p.T354P Missense 9/13 - 1
4-72620800-C-A c.1059G>T p.R353S Missense 9/13 - 6
4-72620800-CC-GA c.1058_1059delinsTC p.R353I Missense 9/13 - 1
4-72620800-C-CT c.1058_1059insA p.T354Dfs*10 Frameshift 9/13 - 1
4-72620800-CCT-ACA c.1057_1059delinsTGT p.R353C Missense 9/13 - 4
4-72620800-CCT-ATG c.1057_1059delinsCAT p.R353H Missense 9/13 - 2
4-72620800-C-G c.1059G>C p.R353S Missense 9/13 - 6
4-72620800-C-T c.1059G>A p.R353= Synonymous 9/13 - 8
4-72620800-TCC-T c.1058_1059del p.R353Nfs*10 Frameshift 9/13 - 1
4-72620802-T-G c.1057A>C p.R353= Synonymous 9/13 - 3
4-72620799-TC-T c.1059del p.T354Lfs*16 Frameshift 9/13 - 2
4-72620799-T-TC c.1059dup p.T354Dfs*10 Frameshift 9/13 - 3
4-72620801-C-A c.1058G>T p.R353M Missense 9/13 - 2
4-72620801-CCT-C c.1057_1058del p.R353Dfs*10 Frameshift 9/13 - 1
4-72620801-C-G c.1058G>C p.R353T Missense 9/13 - 1
4-72620801-C-T c.1058G>A p.R353K Missense 9/13 - 12
4-72620801-CT-AG c.1057_1058inv p.R353L Missense 9/13 - 1
4-72620801-CT-GC c.1057_1058delinsGC p.R353A Missense 9/13 - 1
4-72620801-CT-TA c.1057_1058delinsTA p.R353* Nonsense 9/13 - 3
4-72620801-CT-TG c.1057_1058delinsCA p.R353Q Missense 9/13 - 9
4-72620802-CTT-C c.1056_1057del p.R353Dfs*10 Frameshift 9/13 - 2
4-72620802-CTTCTGCTT-C c.1050_1057del p.S351Dfs*10 Frameshift 9/13 - 1
4-72620802-T-A c.1057A>T p.R353W Missense 9/13 - 4
4-72620802-T-C c.1057A>G p.R353G Missense 9/13 - 6
4-72620802-T-TA c.1056_1057insT p.R353* Nonsense 9/13 - 3
4-72620802-T-TC c.1056_1057insG p.R353Efs*11 Frameshift 9/13 - 1
4-72620801-C-CT c.1057dup p.R353Kfs*11 Frameshift 9/13 - 2
4-72620801-CT-C c.1057del p.R353Gfs*17 Frameshift 9/13 - 1
4-72620803-T-A c.1056A>T p.R352S Missense 9/13 - 4
4-72620803-T-C c.1056A>G p.R352= Synonymous 9/13 - 8
4-72620803-TCT-ACA c.1054_1056delinsTGT p.R352C Missense 9/13 - 6
4-72620803-TCT-ATG c.1054_1056delinsCAT p.R352H Missense 9/13 - 5
4-72620803-TCT-CCA c.1054_1056delinsTGG p.R352W Missense 9/13 - 2
4-72620803-T-G c.1056A>C p.R352S Missense 9/13 - 6
4-72620805-T-G c.1054A>C p.R352= Synonymous 9/13 - 1
4-72620803-T-TC c.1055dup p.R353Kfs*11 Frameshift 9/13 - 3
4-72620804-C-A c.1055G>T p.R352I Missense 9/13 - 3
4-72620804-C-G c.1055G>C p.R352T Missense 9/13 - 4
4-72620804-C-T c.1055G>A p.R352K Missense 9/13 - 12
4-72620804-CT-AC c.1054_1055delinsGT p.R352V Missense 9/13 - 1
4-72620804-CT-AG c.1054_1055inv p.R352L Missense 9/13 - 1
4-72620804-CT-GC c.1054_1055delinsGC p.R352A Missense 9/13 - 1
4-72620804-CT-GG c.1054_1055delinsCC p.R352P Missense 9/13 - 1
4-72620804-CT-TG c.1054_1055delinsCA p.R352Q Missense 9/13 - 3
4-72620803-T-TCTC c.1055_1056insGAG p.R353dup InFrameInsertion 9/13 - 1
4-72620804-C-CT c.1054dup p.R352Kfs*12 Frameshift 9/13 - 1
4-72620805-CT-C c.1054del p.R352Efs*18 Frameshift 9/13 - 1
4-72620805-T-A c.1054A>T p.R352* Nonsense 9/13 - 7
4-72620805-T-C c.1054A>G p.R352G Missense 9/13 - 6
4-72620805-T-TA c.1053_1054insT p.R352* Nonsense 9/13 - 2
4-72620805-T-TG c.1053dup p.R352Qfs*12 Frameshift 9/13 - 1
4-72620805-T-TGGCACCCCCACCCCACAGGCCACTCACCTCCCC c.1053_1054insGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGCC p.S351_R352insGEVSGLWGGGA InFrameInsertion 9/13 - 1
4-72620806-G-A c.1053C>T p.S351= Synonymous 9/13 - 15
4-72620806-G-C c.1053C>G p.S351R Missense 9/13 - 2
4-72620806-GCT-TCA c.1051_1053delinsTGA p.S351* Nonsense 9/13 - 1
4-72620806-G-T c.1053C>A p.S351R Missense 9/13 - 2
4-72620806-TGC-T c.1052_1053del p.S351Kfs*12 Frameshift 9/13 - 2
4-72620806-TG-T c.1053del p.S351Rfs*19 Frameshift 9/13 - 1
4-72620804-CTGCTTAGTTCAAA-C c.1042_1054del p.F348Efs*18 Frameshift 9/13 - 1
4-72620806-G-GC c.1052dup p.S351Rfs*13 Frameshift 9/13 - 2
4-72620806-G-GCAGCCA c.1052_1053insTGGCTG p.S351_R352insGC InFrameInsertion 9/13 - 1
4-72620807-C-A c.1052G>T p.S351I Missense 9/13 - 2
4-72620807-C-CCCGCCG c.1051_1052insCGGCGG p.S351delinsTAG MultiAAMissense 9/13 - 1
4-72620807-C-G c.1052G>C p.S351T Missense 9/13 - 6
4-72620807-C-T c.1052G>A p.S351N Missense 9/13 - 13
4-72620807-CT-AG c.1051_1052inv p.S351L Missense 9/13 - 1
4-72620807-CT-GC c.1051_1052delinsGC p.S351A Missense 9/13 - 2
4-72620807-CT-GG c.1051_1052delinsCC p.S351P Missense 9/13 - 1
4-72620807-CT-TC c.1051_1052delinsGA p.S351D Missense 9/13 - 1
4-72620807-GC-G c.1052del p.S351Tfs*19 Frameshift 9/13 - 1
4-72620807-GCTTAGTTCAAATGTATACCTAGCATGAGGGAGAAAAGGAGATATGTGTTATATATTTCC-G c.1035-41_1052del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/13 8/12 1
4-72620805-T-TGCTGCC c.1053_1054insGGCAGC p.S351_R352insGS InFrameInsertion 9/13 - 4
4-72620806-G-GCTGCCT c.1052_1053insAGGCAG p.L350_S351insRG InFrameInsertion 9/13 - 1
4-72620808-T-A c.1051A>T p.S351C Missense 9/13 - 2
4-72620808-T-C c.1051A>G p.S351G Missense 9/13 - 4
4-72620808-T-G c.1051A>C p.S351R Missense 9/13 - 2
4-72620808-T-TA c.1050_1051insT p.S351* Nonsense 9/13 - 1
4-72620808-T-TAAGTATGTTAAATGGTGCAC c.1050_1051insGTGCACCATTTAACATACTT p.S351Vfs*26 Frameshift 9/13 - 1
4-72620808-T-TCC c.1050_1051insGG p.S351Gfs*20 Frameshift 9/13 - 1
4-72620807-C-CT c.1051dup p.S351Kfs*13 Frameshift 9/13 - 2
4-72620807-CT-C c.1051del p.S351Afs*19 Frameshift 9/13 - 1
4-72620809-T-A c.1050A>T p.L350= Synonymous 9/13 - 3
4-72620809-TA-AT c.1049_1050delinsAT p.L350H Missense 9/13 - 2
4-72620809-TAG-AAA c.1048_1050delinsTTT p.L350F Missense 9/13 - 1
4-72620809-TAG-CAT c.1048_1050delinsATG p.L350M Missense 9/13 - 2
4-72620809-T-C c.1050A>G p.L350= Synonymous 9/13 - 8
4-72620809-T-G c.1050A>C p.L350= Synonymous 9/13 - 3
4-72620808-TTAGTTCAAATGTATACCTAGCATGAGGGAGAAAAGGAGATATGTGTTATATATTTCCTA-T c.1035-43_1050del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/13 8/12 1
4-72620809-T-TA c.1049dup p.S351Kfs*13 Frameshift 9/13 - 1
4-72620810-A-C c.1049T>G p.L350R Missense 9/13 - 3
4-72620810-A-G c.1049T>C p.L350P Missense 9/13 - 4
4-72620810-AG-GA c.1048_1049delinsTC p.L350S Missense 9/13 - 1
4-72620810-AG-TA c.1048_1049delinsTA p.L350* Nonsense 9/13 - 1
4-72620810-A-T c.1049T>A p.L350Q Missense 9/13 - 3
4-72620810-TAG-T c.1048_1049del p.L350Kfs*13 Frameshift 9/13 - 1
4-72620810-TA-T c.1049del p.L350Qfs*20 Frameshift 9/13 - 2
4-72620810-A-AGCGTGGGTGTGCGATGCAC c.1048_1049insGTGCATCGCACACCCACGC p.L350Rfs*20 Frameshift 9/13 - 1
4-72620811-AG-A c.1048del p.L350* Frameshift 9/13 - 2
4-72620811-G-A c.1048C>T p.L350= Synonymous 9/13 - 8
4-72620811-G-C c.1048C>G p.L350V Missense 9/13 - 2
4-72620811-G-T c.1048C>A p.L350I Missense 9/13 - 3
4-72620811-G-GTGGAACAACAATATGAACTAACCAGTAC c.1047_1048insGTACTGGTTAGTTCATATTGTTGTTCCA p.L350Vfs*23 Frameshift 9/13 - 1
4-72620811-G-GTGGAACAACAATATGAACTAACCAGTACC c.1047_1048insGGTACTGGTTAGTTCATATTGTTGTTCCA p.L350Gfs*4 Frameshift 9/13 - 1
4-72620811-G-GTGGAACAACAATATGAACTAACCAGTACCC c.1047_1048insGGGTACTGGTTAGTTCATATTGTTGTTCCA p.E349_L350insGYWLVHIVVP InFrameInsertion 9/13 - 1
4-72620812-GTTCAAATGTATA-G c.1036_1047del p.Y346_E349del SpliceAcceptorDeletion 9/13 - 1
4-72620812-T-A c.1047A>T p.E349D Missense 9/13 - 3
4-72620812-T-C c.1047A>G p.E349= Synonymous 9/13 - 10
4-72620812-T-G c.1047A>C p.E349D Missense 9/13 - 3
4-72620812-T-TAAGA c.1046_1047insTCTT p.E349Dfs*16 Frameshift 9/13 - 1
4-72620811-G-GT c.1047dup p.L350Tfs*14 Frameshift 9/13 - 2
4-72620811-GT-G c.1047del p.E349Dfs*2 Frameshift 9/13 - 2
4-72620812-T-TTGTGGC c.1046_1047insGCCACA p.E349_L350insPQ InFrameInsertion 9/13 - 1
4-72620813-T-A c.1046A>T p.E349V Missense 9/13 - 2
4-72620813-T-C c.1046A>G p.E349G Missense 9/13 - 7
4-72620813-T-G c.1046A>C p.E349A Missense 9/13 - 2
4-72620812-TTCAAATGTATACCTAGCATGAGGGAGAAAAGGAGATATGTGTTATATATTTCCTATTTA-T c.1035-47_1046del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/13 8/12 1
4-72620813-T-TC c.1045dup p.E349Gfs*15 Frameshift 9/13 - 1
4-72620814-C-A c.1045G>T p.E349* Nonsense 9/13 - 4
4-72620814-C-G c.1045G>C p.E349Q Missense 9/13 - 1
4-72620814-C-T c.1045G>A p.E349K Missense 9/13 - 15
4-72620815-A-AGC c.1043_1044insGC p.F348Lfs*4 Frameshift 9/13 - 1
4-72620815-AA-TT c.1043_1044inv p.F348* Nonsense 9/13 - 1
4-72620815-A-C c.1044T>G p.F348L Missense 9/13 - 5
4-72620815-A-G c.1044T>C p.F348= Synonymous 9/13 - 10
4-72620815-A-T c.1044T>A p.F348L Missense 9/13 - 5
4-72620814-CAA-C c.1043_1044del p.F348* Frameshift 9/13 - 1
4-72620816-A-C c.1043T>G p.F348C Missense 9/13 - 4
4-72620816-A-G c.1043T>C p.F348S Missense 9/13 - 7
4-72620816-A-T c.1043T>A p.F348Y Missense 9/13 - 2
4-72620814-CA-C c.1044del p.F348Lfs*3 Frameshift 9/13 - 1
4-72620814-C-CA c.1044dup p.E349* Nonsense 9/13 - 3
4-72620817-A-ACGG c.1041_1042insCCG p.T347_F348insP InFrameInsertion 9/13 - 1
4-72620817-A-ACTGCCACC c.1041_1042insGGTGGCAG p.F348Gfs*6 Frameshift 9/13 - 2
4-72620817-A-AGG c.1041_1042insCC p.F348Pfs*4 Frameshift 9/13 - 1
4-72620817-A-C c.1042T>G p.F348V Missense 9/13 - 1
4-72620817-A-G c.1042T>C p.F348L Missense 9/13 - 7
4-72620817-A-T c.1042T>A p.F348I Missense 9/13 - 2
4-72620818-AT-A c.1041del p.F348Lfs*3 Frameshift 9/13 - 2
4-72620818-ATGTATACCTAGCATGAGGGAGAAAAGGAGATATGTGTTATATATTTCCTATTTATTTAT-A c.1035-52_1041del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/13 8/12 1
4-72620818-T-A c.1041A>T p.T347= Synonymous 9/13 - 4
4-72620818-T-C c.1041A>G p.T347= Synonymous 9/13 - 10
4-72620818-T-G c.1041A>C p.T347= Synonymous 9/13 - 3
4-72620818-TG-CA c.1040_1041inv p.T347M Missense 9/13 - 1
4-72620818-TG-GT c.1040_1041delinsAC p.T347N Missense 9/13 - 2
4-72620818-TGT-ACA c.1039_1041inv p.T347C Missense 9/13 - 2
4-72620818-T-TC c.1040_1041insG p.F348Ifs*2 Frameshift 9/13 - 1
4-72620818-T-TCTGCCA c.1040_1041insTGGCAG p.T347_F348insGR InFrameInsertion 9/13 - 1
4-72620818-T-TTTTGCTTTCTTTCGTTTCTTTCTGTGAGGG c.1040_1041insCCCTCACAGAAAGAAACGAAAGAAAGCAAA p.T347_F348insPHRKKRKKAK InFrameInsertion 9/13 - 1
4-72620817-ATGTATACCTAGCATGAGGGAGAAAAGGAGATATGTGTTATATATTTCCTATTTATTTAT-A c.1035-52_1041del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/13 8/12 1
4-72620818-T-TGCTTACTTCATGCCAGCTGCCCAACTCCCCGAGCTTCCAGATGTAGAGTTGCCCACAAACAAA c.1040_1041insTTTGTTTGTGGGCAACTCTACATCTGGAAGCTCGGGGAGTTGGGCAGCTGGCATGAAGTAAGC p.T347_F348insLFVGNSTSGSSGSWAAGMK* Frameshift 9/13 - 1
4-72620819-G-A c.1040C>T p.T347I Missense 9/13 - 8
4-72620819-G-C c.1040C>G p.T347R Missense 9/13 - 1
4-72620819-G-GCTAGGGGTCTC c.1039_1040insGAGACCCCTAG p.T347Rfs*4 Frameshift 9/13 - 1
4-72620819-G-T c.1040C>A p.T347K Missense 9/13 - 4
4-72620820-GT-G c.1039del p.T347Hfs*4 Frameshift 9/13 - 1
4-72620820-T-A c.1039A>T p.T347S Missense 9/13 - 4
4-72620820-T-C c.1039A>G p.T347A Missense 9/13 - 10
4-72620820-T-G c.1039A>C p.T347P Missense 9/13 - 3
4-72620820-T-TA c.1038dup p.T347Yfs*3 Frameshift 9/13 - 2
4-72620821-A-AC c.1037_1038insG p.Y346* Nonsense 9/13 - 1
4-72620821-A-C c.1038T>G p.Y346* Nonsense 9/13 - 3
4-72620821-A-G c.1038T>C p.Y346= Synonymous 9/13 - 6
4-72620821-A-T c.1038T>A p.Y346* Nonsense 9/13 - 3
4-72620821-TA-T c.1038del p.Y346* Frameshift 9/13 - 4
4-72620819-GTA-G c.1038_1039del p.T347Ifs*2 SpliceAcceptorDeletion 9/13 - 2
4-72620822-AT-A c.1037del p.Y346Lfs*5 Frameshift 9/13 - 1
4-72620822-ATAC-A c.1035_1037del p.K345_Y346delinsN SpliceAcceptorDeletion 9/13 - 1
4-72620822-T-A c.1037A>T p.Y346F Missense 9/13 - 2
4-72620822-TA-CG c.1036_1037delinsCG p.Y346R Missense 9/13 - 1
4-72620822-TA-GG c.1036_1037delinsCC p.Y346P Missense 9/13 - 1
4-72620822-T-C c.1037A>G p.Y346C Missense 9/13 - 7
4-72620822-T-G c.1037A>C p.Y346S Missense 9/13 - 3
4-72620821-A-ATATTATTATTTTTATTATTATTAT c.1037_1038insATAATAATAATAAAAATAATAATA p.K345_Y346ins* SpliceAcceptorInsertion 9/13 - 1
4-72620822-T-TA c.1036dup p.Y346Lfs*4 SpliceAcceptorInsertion 9/13 - 4
4-72620823-A-AG c.1035_1036insC p.Y346Lfs*4 SpliceAcceptorInsertion 9/13 - 1
4-72620823-A-AT c.1035_1036insA p.Y346Ifs*4 SpliceAcceptorInsertion 9/13 - 2
4-72620823-A-ATAT c.1035_1036insATA p.K345_Y346insI SpliceAcceptorInsertion 9/13 - 1
4-72620823-A-C c.1036T>G p.Y346D Missense 9/13 - 2
4-72620823-A-G c.1036T>C p.Y346H Missense 9/13 - 6
4-72620823-A-T c.1036T>A p.Y346N Missense 9/13 - 3
4-72620824-ACCTAGCATGAGGGAGAAAAGGAGATATGTGTTATATATTTCCTATTTATTTATTTATTT-A c.1035-58_1035del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/13 8/12 1
4-72620824-C-A c.1035G>T p.K345N Missense 9/13 - 5
4-72620824-C-G c.1035G>C p.K345N Missense 9/13 - 3
4-72620824-C-T c.1035G>A p.K345= Synonymous 9/13 - 7
4-72620823-AC-A c.1035del - Frameshift - 8/12 1
4-72620865-C-CTTATTTATTTATTTAT c.1035-42_1035-41insATAAATAAATAAATAA - IntronicInsertion - 8/12 2
4-72620895-T-A c.1035-71A>T - IntronicSNV - 8/12 4
4-72620975-GGT-G c.1035-152_1035-151del - IntronicDeletion - 8/12 1
4-72621004-C-G c.1035-180G>C - IntronicSNV - 8/12 1
4-72621004-C-T c.1035-180G>A - IntronicSNV - 8/12 1
4-72621032-A-G c.1035-208T>C - IntronicSNV - 8/12 1
4-72621147-T-TG c.1035-324dup - IntronicInsertion - 8/12 1
4-72621172-G-C c.1035-348C>G - IntronicSNV - 8/12 1
4-72621674-T-G c.1034+755A>C - IntronicSNV - 8/12 8
4-72621982-T-TA c.1034+446dup - IntronicInsertion - 8/12 1
4-72622208-A-C c.1034+221T>G - IntronicSNV - 8/12 1
4-72622325-TG-T c.1034+104del - IntronicDeletion - 8/12 1
4-72622403-A-C c.1034+26T>G - IntronicSNV - 8/12 6
4-72622409-T-C c.1034+20A>G - IntronicSNV - 8/12 1
4-72622428-C-CCTGCCA c.1034_1034+1insTGGCAG p.K345delinsNGR SpliceDonorInsertion - - 1
4-72622427-ACTTATC-A c.1030_1034+1del - SpliceDonorDeletion 8/13 - 1
4-72622429-T-A c.1034A>T p.K345M Missense 8/13 - 2
4-72622429-T-C c.1034A>G p.K345R Missense 8/13 - 6
4-72622429-T-G c.1034A>C p.K345T Missense 8/13 - 7
4-72622428-C-CT c.1034dup p.Y346Vfs*4 SpliceDonorInsertion 8/13 - 1
4-72622428-C-CTTGCCG c.1034_1034+1insCGGCAA p.D344_K345insNG SpliceDonorInsertion 8/13 - 1
4-72622428-CT-C c.1034del p.K345Sfs*6 Frameshift 8/13 - 1
4-72622430-T-A c.1033A>T p.K345* Nonsense 8/13 - 3
4-72622430-T-C c.1033A>G p.K345E Missense 8/13 - 9
4-72622430-T-G c.1033A>C p.K345Q Missense 8/13 - 2
4-72622430-T-TC c.1032_1033insG p.K345Efs*5 SpliceDonorInsertion 8/13 - 1
4-72622430-T-TG c.1032_1033insC p.K345Qfs*5 SpliceDonorInsertion 8/13 - 1
4-72622430-T-TA c.1032dup p.K345* Nonsense 8/13 - 1
4-72622431-A-ACCGCCGTCG c.1031_1032insCGACGGCGG p.D344_K345insDGG InFrameInsertion 8/13 - 1
4-72622431-A-AGCCCGGCTCAG c.1031_1032insCTGAGCCGGGC p.K345* Nonsense 8/13 - 1
4-72622431-A-C c.1032T>G p.D344E Missense 8/13 - 5
4-72622431-A-G c.1032T>C p.D344= Synonymous 8/13 - 8
4-72622431-A-T c.1032T>A p.D344E Missense 8/13 - 4
4-72622431-A-AT c.1031dup p.D344Efs*2 Frameshift 8/13 - 1
4-72622431-A-ATT c.1031_1032insAA p.D344Efs*8 Frameshift 8/13 - 1
4-72622431-A-ATTTC c.1031_1032insGAAA p.D344Efs*3 Frameshift 8/13 - 1
4-72622432-AT-A c.1031del p.D344Vfs*7 Frameshift 8/13 - 2
4-72622432-T-A c.1031A>T p.D344V Missense 8/13 - 1
4-72622432-T-C c.1031A>G p.D344G Missense 8/13 - 9
4-72622432-TC-CG c.1030_1031delinsCG p.D344R Missense 8/13 - 2
4-72622432-T-G c.1031A>C p.D344A Missense 8/13 - 3
4-72622432-T-TTA c.1030_1031insTA p.D344Vfs*8 Frameshift 8/13 - 1
4-72622433-C-A c.1030G>T p.D344Y Missense 8/13 - 3
4-72622433-C-CA c.1029_1030insT p.D344* Nonsense 8/13 - 1
4-72622433-C-CTAG c.1029_1030insCTA p.M343_D344insL InFrameInsertion 8/13 - 1
4-72622433-C-G c.1030G>C p.D344H Missense 8/13 - 2
4-72622433-C-T c.1030G>A p.D344N Missense 8/13 - 8
4-72622432-T-TC c.1030dup p.D344Gfs*2 Frameshift 8/13 - 3
4-72622434-C-A c.1029G>T p.M343I Missense 8/13 - 5
4-72622434-C-G c.1029G>C p.M343I Missense 8/13 - 7
4-72622434-C-T c.1029G>A p.M343I Missense 8/13 - 12
4-72622434-C-CA c.1028dup p.M343Ifs*3 Frameshift 8/13 - 1
4-72622435-A-ACACCTGAG c.1027_1028insCTCAGGTG p.M343Tfs*11 Frameshift 8/13 - 1
4-72622435-A-C c.1028T>G p.M343R Missense 8/13 - 2
4-72622435-A-G c.1028T>C p.M343T Missense 8/13 - 4
4-72622435-A-T c.1028T>A p.M343K Missense 8/13 - 3
4-72622435-CATGACT-C c.1023_1028del p.V342_M343del InFrameDeletion 8/13 - 1
4-72622435-A-AT c.1027dup p.M343Nfs*3 Frameshift 8/13 - 1
4-72622435-A-ATT c.1027_1028insAA p.M343Kfs*9 Frameshift 8/13 - 1
4-72622436-AT-A c.1027del p.M343Wfs*8 Frameshift 8/13 - 1
4-72622436-T-A c.1027A>T p.M343L Missense 8/13 - 2
4-72622436-T-C c.1027A>G p.M343V Missense 8/13 - 6
4-72622436-T-G c.1027A>C p.M343L Missense 8/13 - 3
4-72622436-T-TG c.1026dup p.M343Hfs*3 Frameshift 8/13 - 2
4-72622437-G-A c.1026C>T p.V342= Synonymous 8/13 - 9
4-72622437-GAC-CAT c.1024_1026delinsATG p.V342M Missense 8/13 - 2
4-72622437-GAC-TTA c.1024_1026delinsTAA p.V342* Nonsense 8/13 - 1
4-72622437-GAC-TTG c.1024_1026delinsCAA p.V342Q Missense 8/13 - 1
4-72622437-G-C c.1026C>G p.V342= Synonymous 8/13 - 4
4-72622437-G-T c.1026C>A p.V342= Synonymous 8/13 - 6
4-72622437-TGAC-T c.1024_1026del p.V342del InFrameDeletion 8/13 - 1
4-72622437-TG-T c.1026del p.M343Wfs*8 Frameshift 8/13 - 1
4-72622438-A-ATT c.1024_1025insAA p.V342Efs*10 Frameshift 8/13 - 1
4-72622438-A-C c.1025T>G p.V342G Missense 8/13 - 3
4-72622438-AC-TT c.1024_1025delinsAA p.V342N Missense 8/13 - 1
4-72622438-A-G c.1025T>C p.V342A Missense 8/13 - 3
4-72622438-A-T c.1025T>A p.V342D Missense 8/13 - 1
4-72622438-GAC-G c.1024_1025del p.V342Hfs*3 Frameshift 8/13 - 1
4-72622438-GA-G c.1025del p.V342Afs*9 Frameshift 8/13 - 2
4-72622439-AC-A c.1024del p.V342Sfs*9 Frameshift 8/13 - 2
4-72622439-C-A c.1024G>T p.V342F Missense 8/13 - 4
4-72622439-C-CA c.1023_1024insT p.V342Cfs*4 Frameshift 8/13 - 1
4-72622439-C-G c.1024G>C p.V342L Missense 8/13 - 2
4-72622439-C-T c.1024G>A p.V342I Missense 8/13 - 16
4-72622438-A-ACTC c.1024_1025insGAG p.K341_V342insG InFrameInsertion 8/13 - 1
4-72622440-T-A c.1023A>T p.K341N Missense 8/13 - 5
4-72622440-T-C c.1023A>G p.K341= Synonymous 8/13 - 11
4-72622440-T-G c.1023A>C p.K341N Missense 8/13 - 2
4-72622440-TT-CA c.1022_1023delinsTG p.K341M Missense 8/13 - 2
4-72622440-TT-CG c.1022_1023delinsCG p.K341T Missense 8/13 - 1
4-72622441-T-A c.1022A>T p.K341I Missense 8/13 - 4
4-72622441-T-C c.1022A>G p.K341R Missense 8/13 - 6
4-72622441-T-G c.1022A>C p.K341T Missense 8/13 - 2
4-72622441-T-TA c.1021_1022insT p.K341Ifs*5 Frameshift 8/13 - 1
4-72622441-TT-GC c.1021_1022delinsGC p.K341A Missense 8/13 - 2
4-72622441-TT-GG c.1021_1022delinsCC p.K341P Missense 8/13 - 1
4-72622439-C-CT c.1023dup p.V342Sfs*4 Frameshift 8/13 - 1
4-72622439-CT-C c.1023del p.V342Sfs*9 Frameshift 8/13 - 3
4-72622442-T-C c.1021A>G p.K341E Missense 8/13 - 5
4-72622442-T-G c.1021A>C p.K341Q Missense 8/13 - 3
4-72622442-T-TA c.1020_1021insT p.K341* Nonsense 8/13 - 1
4-72622442-T-TGC c.1020_1021insGC p.K341Afs*11 Frameshift 8/13 - 1
4-72622443-G-A c.1020C>T p.T340= Synonymous 8/13 - 10
4-72622443-G-C c.1020C>G p.T340= Synonymous 8/13 - 6
4-72622443-GG-CA c.1019_1020delinsTG p.T340M Missense 8/13 - 2
4-72622443-GG-CC c.1019_1020inv p.T340R Missense 8/13 - 1
4-72622443-GG-CT c.1019_1020delinsAG p.T340K Missense 8/13 - 2
4-72622443-GGT-TTA c.1018_1020delinsTAA p.T340* Nonsense 8/13 - 1
4-72622443-G-T c.1020C>A p.T340= Synonymous 8/13 - 7
4-72622439-CTTTGGTGTTTCCTGGATCACACACATCTTTG-C c.993_1023del p.N331Kfs*10 Frameshift 8/13 - 1
4-72622442-TG-T c.1020del p.V342Sfs*9 Frameshift 8/13 - 4
4-72622442-T-TG c.1020dup p.K341Qfs*5 Frameshift 8/13 - 1
4-72622443-G-GGCT c.1019_1020insAGC p.T340_K341insA InFrameInsertion 8/13 - 1
4-72622444-G-A c.1019C>T p.T340I Missense 8/13 - 7
4-72622444-G-C c.1019C>G p.T340S Missense 8/13 - 2
4-72622444-G-GAGGCGA c.1018_1019insTCGCCT p.T340delinsIAS MultiAAMissense 8/13 - 1
4-72622444-G-T c.1019C>A p.T340N Missense 8/13 - 3
4-72622444-GT-CA c.1018_1019delinsTG p.T340C Missense 8/13 - 2
4-72622445-T-A c.1018A>T p.T340S Missense 8/13 - 3
4-72622444-G-GT c.1018dup p.T340Nfs*6 Frameshift 8/13 - 1
4-72622445-GTGTTTC-G c.1013_1018del p.G338_T340delinsA MultiAAMissense 8/13 - 1
4-72622445-T-C c.1018A>G p.T340A Missense 8/13 - 11
4-72622445-T-TAC c.1017_1018insGT p.T340Vfs*12 Frameshift 8/13 - 1
4-72622443-GGT-G c.1018_1019del p.T340Qfs*5 Frameshift 8/13 - 1
4-72622445-T-TGGAGGC c.1017_1018insGCCTCC p.N339_T340insAS InFrameInsertion 8/13 - 1
4-72622446-G-A c.1017C>T p.N339= Synonymous 8/13 - 13
4-72622446-G-C c.1017C>G p.N339K Missense 8/13 - 2
4-72622446-G-T c.1017C>A p.N339K Missense 8/13 - 3
4-72622447-T-A c.1016A>T p.N339I Missense 8/13 - 1
4-72622447-T-C c.1016A>G p.N339S Missense 8/13 - 11
4-72622447-T-G c.1016A>C p.N339T Missense 8/13 - 1
4-72622447-T-TA c.1015_1016insT p.N339Ifs*7 Frameshift 8/13 - 1
4-72622448-T-A c.1015A>T p.N339Y Missense 8/13 - 1
4-72622448-T-C c.1015A>G p.N339D Missense 8/13 - 8
4-72622448-T-G c.1015A>C p.N339H Missense 8/13 - 3
4-72622448-T-TA c.1014_1015insT p.N339* Nonsense 8/13 - 4
4-72622448-T-TC c.1014_1015insG p.N339Efs*7 Frameshift 8/13 - 1
4-72622446-G-GT c.1016dup p.N339Kfs*7 Frameshift 8/13 - 1
4-72622446-GT-G c.1016del p.N339Tfs*12 Frameshift 8/13 - 7
4-72622449-T-A c.1014A>T p.G338= Synonymous 8/13 - 7
4-72622449-T-C c.1014A>G p.G338= Synonymous 8/13 - 11
4-72622449-TCC-ACA c.1012_1014delinsTGT p.G338C Missense 8/13 - 2
4-72622449-TCC-GCT c.1012_1014delinsAGC p.G338S Missense 8/13 - 5
4-72622449-TC-GT c.1013_1014delinsAC p.G338D Missense 8/13 - 2
4-72622449-T-G c.1014A>C p.G338= Synonymous 8/13 - 7
4-72622450-C-A c.1013G>T p.G338V Missense 8/13 - 1
4-72622450-C-CGT c.1012_1013insAC p.G338Dfs*14 Frameshift 8/13 - 1
4-72622450-C-G c.1013G>C p.G338A Missense 8/13 - 6
4-72622450-C-T c.1013G>A p.G338E Missense 8/13 - 8
4-72622449-TCCTGGATCACACA-T c.1001_1013del p.V334Efs*13 Frameshift 8/13 - 1
4-72622449-TC-T c.1013del p.G338Efs*13 Frameshift 8/13 - 2
4-72622449-T-TC c.1013dup p.N339Kfs*7 Frameshift 8/13 - 1
4-72622451-C-A c.1012G>T p.G338* Nonsense 8/13 - 4
4-72622451-C-G c.1012G>C p.G338R Missense 8/13 - 6
4-72622451-C-T c.1012G>A p.G338R Missense 8/13 - 13
4-72622451-C-CT c.1011dup p.G338Rfs*8 Frameshift 8/13 - 2
4-72622452-CT-C c.1011del p.G338Efs*13 Frameshift 8/13 - 1
4-72622452-CTGG-C c.1009_1011del p.P337del InFrameDeletion 8/13 - 1
4-72622452-T-A c.1011A>T p.P337= Synonymous 8/13 - 5
4-72622452-T-C c.1011A>G p.P337= Synonymous 8/13 - 11
4-72622452-T-G c.1011A>C p.P337= Synonymous 8/13 - 8
4-72622452-TG-AT c.1010_1011delinsAT p.P337H Missense 8/13 - 4
4-72622452-TGG-AAA c.1009_1011delinsTTT p.P337F Missense 8/13 - 1
4-72622452-TGG-GTT c.1009_1011delinsAAC p.P337N Missense 8/13 - 1
4-72622453-G-A c.1010C>T p.P337L Missense 8/13 - 9
4-72622453-G-C c.1010C>G p.P337R Missense 8/13 - 3
4-72622453-GG-TA c.1009_1010delinsTA p.P337* Nonsense 8/13 - 1
4-72622453-GG-TT c.1009_1010delinsAA p.P337K Missense 8/13 - 1
4-72622453-G-T c.1010C>A p.P337Q Missense 8/13 - 5
4-72622453-TGG-T c.1009_1010del p.P337Rfs*8 Frameshift 8/13 - 1
4-72622452-TG-T c.1010del p.P337Qfs*14 Frameshift 8/13 - 2
4-72622452-T-TG c.1010dup p.G338Rfs*8 Frameshift 8/13 - 2
4-72622454-G-A c.1009C>T p.P337S Missense 8/13 - 11
4-72622454-G-C c.1009C>G p.P337A Missense 8/13 - 4
4-72622454-GGA-G c.1008_1009del p.P337Rfs*8 Frameshift 8/13 - 1
4-72622454-GGATCACACACA-G c.999_1009del p.V334Rfs*8 Frameshift 8/13 - 1
4-72622454-G-GT c.1008_1009insA p.P337Tfs*9 Frameshift 8/13 - 1
4-72622454-G-T c.1009C>A p.P337T Missense 8/13 - 1
4-72622454-G-GA c.1008dup p.P337Sfs*9 Frameshift 8/13 - 1
4-72622455-A-C c.1008T>G p.D336E Missense 8/13 - 6
4-72622455-A-G c.1008T>C p.D336= Synonymous 8/13 - 6
4-72622455-A-T c.1008T>A p.D336E Missense 8/13 - 5
4-72622455-GA-G c.1008del p.P337Qfs*14 Frameshift 8/13 - 3
4-72622455-GAT-G c.1007_1008del p.D336Afs*9 Frameshift 8/13 - 1
4-72622454-G-GATTACAGGCGTGAGCCACCGCGCCCGGCC c.1008_1009insGGCCGGGCGCGGTGGCTCACGCCTGTAAT p.P337Gfs*24 Frameshift 8/13 - 1
4-72622456-AT-A c.1007del p.D336Vfs*15 Frameshift 8/13 - 4
4-72622456-T-A c.1007A>T p.D336V Missense 8/13 - 3
4-72622456-T-C c.1007A>G p.D336G Missense 8/13 - 8
4-72622456-T-G c.1007A>C p.D336A Missense 8/13 - 4
4-72622456-T-TC c.1006dup p.D336Gfs*10 Frameshift 8/13 - 4
4-72622457-C-A c.1006G>T p.D336Y Missense 8/13 - 10
4-72622457-C-G c.1006G>C p.D336H Missense 8/13 - 4
4-72622457-C-T c.1006G>A p.D336N Missense 8/13 - 16
4-72622457-C-CA c.1005dup p.D336* Nonsense 8/13 - 3
4-72622458-A-AGT c.1004_1005insAC p.C335* Nonsense 8/13 - 1
4-72622458-A-ATG c.1004_1005insCA p.D336Mfs*16 Frameshift 8/13 - 1
4-72622458-A-C c.1005T>G p.C335W Missense 8/13 - 1
4-72622458-A-G c.1005T>C p.C335= Synonymous 8/13 - 9
4-72622458-A-T c.1005T>A p.C335* Nonsense 8/13 - 6
4-72622458-CA-C c.1005del p.C335Wfs*16 Frameshift 8/13 - 2
4-72622458-A-AC c.1004dup p.C335Wfs*2 Frameshift 8/13 - 1
4-72622459-C-A c.1004G>T p.C335F Missense 8/13 - 4
4-72622459-CA-GC c.1003_1004delinsGC p.C335A Missense 8/13 - 4
4-72622459-CA-GT c.1003_1004delinsAC p.C335T Missense 8/13 - 2
4-72622459-C-G c.1004G>C p.C335S Missense 8/13 - 5
4-72622459-C-T c.1004G>A p.C335Y Missense 8/13 - 8
4-72622460-A-C c.1003T>G p.C335G Missense 8/13 - 5
4-72622460-A-G c.1003T>C p.C335R Missense 8/13 - 5
4-72622460-A-T c.1003T>A p.C335S Missense 8/13 - 1
4-72622460-CA-C c.1003del p.C335Vfs*16 Frameshift 8/13 - 1
4-72622460-CACA-C c.1001_1003del p.V334_C335delinsG MultiAAMissense 8/13 - 1
4-72622460-CACACATCT-C c.996_1003del p.D333* Frameshift 8/13 - 1
4-72622460-A-AC c.1002dup p.C335Vfs*2 Frameshift 8/13 - 1
4-72622461-AC-A c.1002del p.C335Vfs*16 Frameshift 8/13 - 2
4-72622461-C-A c.1002G>T p.V334= Synonymous 8/13 - 6
4-72622461-CAC-AAA c.1000_1002delinsTTT p.V334F Missense 8/13 - 1
4-72622461-CAC-GAT c.1000_1002delinsATC p.V334I Missense 8/13 - 6
4-72622461-CAC-GTT c.1000_1002delinsAAC p.V334N Missense 8/13 - 1
4-72622461-CA-GT c.1001_1002delinsAC p.V334D Missense 8/13 - 1
4-72622461-C-G c.1002G>C p.V334= Synonymous 8/13 - 5
4-72622461-C-T c.1002G>A p.V334= Synonymous 8/13 - 7
4-72622461-C-CA c.1001dup p.C335Vfs*2 Frameshift 8/13 - 1
4-72622462-A-C c.1001T>G p.V334G Missense 8/13 - 2
4-72622462-AC-GG c.1000_1001delinsCC p.V334P Missense 8/13 - 1
4-72622462-AC-GT c.1000_1001inv p.V334T Missense 8/13 - 1
4-72622462-AC-TA c.1000_1001delinsTA p.V334* Nonsense 8/13 - 1
4-72622462-AC-TG c.1000_1001delinsCA p.V334Q Missense 8/13 - 1
4-72622462-A-G c.1001T>C p.V334A Missense 8/13 - 8
4-72622462-A-T c.1001T>A p.V334E Missense 8/13 - 3
4-72622462-CA-C c.1001del p.V334Gfs*17 Frameshift 8/13 - 2
4-72622462-A-AC c.1000dup p.V334Gfs*3 Frameshift 8/13 - 1
4-72622462-A-ACGGCGGCGGCGGCAGCAGCGCGGGCAGCGCCCCAGGGCGGAAGGGCGCCGCGGCCGGCACGAAGCTGGCCTGCTTGTTCTCCTGGATGGTCTGCATGGGCAGACGGCGCAGAGCGCCCATCGCCGGCGGCCCGAAGCCCCCGCCCCCGCCGTAGGCGCCGCCCTTGCAGCCGCCGAAGTAGGCGGGCGTCCCGGCGCGGG c.1000_1001insCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCCG p.V334Afs*84 Frameshift 8/13 - 1
4-72622463-C-A c.1000G>T p.V334L Missense 8/13 - 5
4-72622463-C-CGGCGGCGGCGGCAGCAGCGCGGGCAGCGCCCCAGGGCGGAAGGGCG c.999_1000insCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC p.V334Rfs*18 Frameshift 8/13 - 1
4-72622463-C-G c.1000G>C p.V334L Missense 8/13 - 4
4-72622463-C-T c.1000G>A p.V334M Missense 8/13 - 12
4-72622463-C-CA c.999dup p.V334Cfs*3 Frameshift 8/13 - 2
4-72622464-A-C c.999T>G p.D333E Missense 8/13 - 8
4-72622464-A-G c.999T>C p.D333= Synonymous 8/13 - 8
4-72622464-A-T c.999T>A p.D333E Missense 8/13 - 6
4-72622465-AT-A c.998del p.D333Vfs*18 Frameshift 8/13 - 2
4-72622465-ATCTTTGTTTGTGGGCAACTCTACATCTGGAAGCTCGGGGAGTTGGGCAGCT-A c.948_998del p.A317_D333del InFrameDeletion 8/13 - 1
4-72622465-T-A c.998A>T p.D333V Missense 8/13 - 1
4-72622465-T-C c.998A>G p.D333G Missense 8/13 - 3
4-72622465-TC-CA c.997_998delinsTG p.D333C Missense 8/13 - 1
4-72622465-T-G c.998A>C p.D333A Missense 8/13 - 6
4-72622465-T-TA c.997_998insT p.D333Vfs*4 Frameshift 8/13 - 1
4-72622464-A-ATCAGGATCGTCCTGAAAGTCTTGAGGTTCTGCCAACTCATCGTACTCTGCTGCTGCATC c.998_999insGATGCAGCAGCAGAGTACGATGAGTTGGCAGAACCTCAAGACTTTCAGGACGATCCTGA p.D333Efs*38 Frameshift 8/13 - 1
4-72622464-ATCT-A c.996_998del p.K332_D333delinsN MultiAAMissense 8/13 - 1
4-72622465-T-TCATTACAGGCGTGAGCCACCGCGCCCGGC c.997_998insGCCGGGCGCGGTGGCTCACGCCTGTAATG p.D333Gfs*28 Frameshift 8/13 - 1
4-72622466-C-A c.997G>T p.D333Y Missense 8/13 - 5
4-72622466-C-CCGT c.996_997insACG p.K332_D333insT InFrameInsertion 8/13 - 1
4-72622466-C-G c.997G>C p.D333H Missense 8/13 - 4
4-72622466-C-T c.997G>A p.D333N Missense 8/13 - 12
4-72622466-TC-T c.997del p.D333Mfs*18 Frameshift 8/13 - 1
4-72622467-T-A c.996A>T p.K332N Missense 8/13 - 5
4-72622467-T-C c.996A>G p.K332= Synonymous 8/13 - 7
4-72622467-T-G c.996A>C p.K332N Missense 8/13 - 3
4-72622467-T-TAG c.995_996insCT p.K332Nfs*2 Frameshift 8/13 - 1
4-72622467-TT-CG c.995_996delinsCG p.K332T Missense 8/13 - 2
4-72622466-CTT-C c.995_996del p.K332Rfs*4 Frameshift 8/13 - 1
4-72622468-T-A c.995A>T p.K332I Missense 8/13 - 1
4-72622468-T-C c.995A>G p.K332R Missense 8/13 - 7
4-72622468-T-G c.995A>C p.K332T Missense 8/13 - 1
4-72622466-C-CT c.996dup p.D333Rfs*4 Frameshift 8/13 - 1
4-72622466-CT-C c.996del p.D333Mfs*18 Frameshift 8/13 - 1
4-72622469-T-A c.994A>T p.K332* Nonsense 8/13 - 4
4-72622469-T-C c.994A>G p.K332E Missense 8/13 - 4
4-72622469-T-G c.994A>C p.K332Q Missense 8/13 - 2
4-72622469-T-TG c.993dup p.K332Qfs*5 Frameshift 8/13 - 1
4-72622470-G-A c.993C>T p.N331= Synonymous 8/13 - 11
4-72622470-G-C c.993C>G p.N331K Missense 8/13 - 5
4-72622470-G-T c.993C>A p.N331K Missense 8/13 - 6
4-72622470-GTT-TTG c.991_993delinsCAA p.N331Q Missense 8/13 - 1
4-72622470-TG-T c.993del p.N331Kfs*20 Frameshift 8/13 - 2
4-72622471-T-A c.992A>T p.N331I Missense 8/13 - 2
4-72622471-T-C c.992A>G p.N331S Missense 8/13 - 3
4-72622471-T-G c.992A>C p.N331T Missense 8/13 - 6
4-72622471-TT-AA c.991_992inv p.N331F Missense 8/13 - 1
4-72622471-TT-AG c.991_992delinsCT p.N331L Missense 8/13 - 1
4-72622471-TT-CA c.991_992delinsTG p.N331C Missense 8/13 - 1
4-72622471-TT-CC c.991_992delinsGG p.N331G Missense 8/13 - 1
4-72622471-TT-GC c.991_992delinsGC p.N331A Missense 8/13 - 2
4-72622470-GTTTGTGGGCAAC-G c.981_992del p.E327_N331delinsD MultiAAMissense 8/13 - 1
4-72622472-T-A c.991A>T p.N331Y Missense 8/13 - 4
4-72622472-T-C c.991A>G p.N331D Missense 8/13 - 10
4-72622472-T-G c.991A>C p.N331H Missense 8/13 - 5
4-72622472-T-TA c.990_991insT p.N331* Nonsense 8/13 - 3
4-72622472-T-TAC c.990_991insGT p.N331Vfs*21 Frameshift 8/13 - 1
4-72622470-G-GT c.992dup p.N331Kfs*6 Frameshift 8/13 - 2
4-72622470-GT-G c.992del p.N331Tfs*20 Frameshift 8/13 - 1
4-72622473-T-A c.990A>T p.T330= Synonymous 8/13 - 8
4-72622473-T-C c.990A>G p.T330= Synonymous 8/13 - 8
4-72622473-T-G c.990A>C p.T330= Synonymous 8/13 - 4
4-72622473-TG-CA c.989_990inv p.T330M Missense 8/13 - 2
4-72622473-TG-GT c.989_990delinsAC p.T330N Missense 8/13 - 2
4-72622473-TGT-ATA c.988_990delinsTAT p.T330Y Missense 8/13 - 1
4-72622473-T-TTCGCCG c.989_990insCGGCGA p.T330_N331insGE InFrameInsertion 8/13 - 1
4-72622473-T-TG c.989dup p.N331Kfs*6 Frameshift 8/13 - 1
4-72622474-G-A c.989C>T p.T330I Missense 8/13 - 11
4-72622474-G-C c.989C>G p.T330R Missense 8/13 - 3
4-72622474-G-T c.989C>A p.T330K Missense 8/13 - 8
4-72622474-GT-CC c.988_989delinsGG p.T330G Missense 8/13 - 1
4-72622474-TG-T c.989del p.T330Kfs*21 Frameshift 8/13 - 1
4-72622473-TGTG-T c.987_989del p.T330del InFrameDeletion 8/13 - 1
4-72622474-G-GT c.988dup p.T330Nfs*7 Frameshift 8/13 - 1
4-72622475-GT-G c.988del p.T330Qfs*21 Frameshift 8/13 - 2
4-72622475-T-A c.988A>T p.T330S Missense 8/13 - 2
4-72622475-T-C c.988A>G p.T330A Missense 8/13 - 13
4-72622475-T-G c.988A>C p.T330P Missense 8/13 - 7
4-72622475-T-TA c.987_988insT p.T330Yfs*7 Frameshift 8/13 - 1
4-72622475-T-TCAGC c.987_988insGCTG p.T330Afs*8 Frameshift 8/13 - 1
4-72622475-T-TGTCGCC c.987_988insGGCGAC p.P329_T330insGD InFrameInsertion 8/13 - 1
4-72622476-G-A c.987C>T p.P329= Synonymous 8/13 - 10
4-72622476-G-C c.987C>G p.P329= Synonymous 8/13 - 7
4-72622476-GGG-TTA c.985_987delinsTAA p.P329* Nonsense 8/13 - 2
4-72622476-G-GT c.986_987insA p.T330Hfs*7 Frameshift 8/13 - 1
4-72622476-GG-TT c.986_987delinsAA p.P329Q Missense 8/13 - 1
4-72622476-G-T c.987C>A p.P329= Synonymous 8/13 - 3
4-72622477-G-A c.986C>T p.P329L Missense 8/13 - 9
4-72622477-G-C c.986C>G p.P329R Missense 8/13 - 2
4-72622477-GG-CA c.985_986delinsTG p.P329C Missense 8/13 - 1
4-72622477-GGCAACTCTACATCTGGAAGCTCGGGGAGTTGGGCAGCTGGCATGAA-CTCTT c.940_986delinsAAGAG p.F314_P329delinsKS MultiAAMissense 8/13 - 1
4-72622477-GG-CC c.985_986inv p.P329G Missense 8/13 - 3
4-72622477-GGGC-G c.984_986del p.L328_P329delinsF MultiAAMissense 8/13 - 1
4-72622477-G-T c.986C>A p.P329H Missense 8/13 - 5
4-72622475-TG-T c.987del p.T330Qfs*21 Frameshift 8/13 - 3
4-72622475-T-TG c.987dup p.T330Hfs*7 Frameshift 8/13 - 3
4-72622478-G-A c.985C>T p.P329S Missense 8/13 - 9
4-72622478-G-C c.985C>G p.P329A Missense 8/13 - 3
4-72622478-G-T c.985C>A p.P329T Missense 8/13 - 1
4-72622479-C-A c.984G>T p.L328F Missense 8/13 - 5
4-72622479-CA-AC c.983_984delinsGT p.L328C Missense 8/13 - 1
4-72622479-CAA-GAT c.982_984delinsATC p.L328I Missense 8/13 - 3
4-72622479-C-G c.984G>C p.L328F Missense