TBX6

TBX6 T-box transcription factor 6

Annotation transcript: NM_004608.4

516 unique variant annotations were identified in 302 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
16-30097525-G-A c.*21C>T - 3-UTRSNV 9/9 - 1
16-30097552-C-A c.1305G>T p.M435I Missense 9/9 - 1
16-30097552-C-G c.1305G>C p.M435I Missense 9/9 - 1
16-30097557-G-A c.1300C>T p.P434S Missense 9/9 - 1
16-30097560-T-G c.1297A>C p.K433Q Missense 9/9 - 2
16-30097562-G-A c.1295C>T p.S432F Missense 9/9 - 1
16-30097565-C-T c.1292G>A p.G431D Missense 9/9 - 1
16-30097567-C-T c.1290G>A p.V430= Synonymous 9/9 - 2
16-30097568-ACATCCAGATAGC-A c.1277_1288del p.G426_D429del InFrameDeletion 9/9 - 1
16-30097570-A-C c.1287T>G p.D429E Missense 9/9 - 1
16-30097570-A-T c.1287T>A p.D429E Missense 9/9 - 1
16-30097579-G-A c.1278C>T p.G426= Synonymous 9/9 - 1
16-30097579-G-T c.1278C>A p.G426= Synonymous 9/9 - 1
16-30097580-C-A c.1277G>T p.G426V Missense 9/9 - 1
16-30097581-C-T c.1276G>A p.G426S Missense 9/9 - 1
16-30097582-C-T c.1275G>A p.G425= Synonymous 9/9 - 1
16-30097588-C-T c.1269G>A p.A423= Synonymous 9/9 - 1
16-30097589-G-A c.1268C>T p.A423V Missense 9/9 - 13
16-30097589-G-T c.1268C>A p.A423E Missense 9/9 - 4
16-30097590-C-T c.1267G>A p.A423T Missense 9/9 - 3
16-30097591-G-A c.1266C>T p.T422= Synonymous 9/9 - 3
16-30097591-G-C c.1266C>G p.T422= Synonymous 9/9 - 1
16-30097591-G-T c.1266C>A p.T422= Synonymous 9/9 - 1
16-30097592-G-A c.1265C>T p.T422I Missense 9/9 - 2
16-30097596-A-G c.1261T>C p.Y421H Missense 9/9 - 1
16-30097597-T-C c.1260A>G p.P420= Synonymous 9/9 - 1
16-30097605-G-A c.1252C>T p.P418S Missense 9/9 - 3
16-30097606-G-GA c.1250dup p.L419Sfs*68 Frameshift 9/9 - 5
16-30097612-G-A c.1245C>T p.G415= Synonymous 9/9 - 2
16-30097612-G-C c.1245C>G p.G415= Synonymous 9/9 - 1
16-30097612-G-T c.1245C>A p.G415= Synonymous 9/9 - 1
16-30097613-C-A c.1244G>T p.G415V Missense 9/9 - 1
16-30097613-C-T c.1244G>A p.G415D Missense 9/9 - 2
16-30097615-C-A c.1242G>T p.G414= Synonymous 9/9 - 1
16-30097615-C-T c.1242G>A p.G414= Synonymous 9/9 - 3
16-30097616-C-T c.1241G>A p.G414E Missense 9/9 - 2
16-30097619-T-G c.1238A>C p.Q413P Missense 9/9 - 1
16-30097620-G-A c.1237C>T p.Q413* Nonsense 9/9 - 1
16-30097621-G-A c.1236C>T p.L412= Synonymous 9/9 - 1
16-30097621-G-C c.1236C>G p.L412= Synonymous 9/9 - 1
16-30097621-G-T c.1236C>A p.L412= Synonymous 9/9 - 1
16-30097623-G-A c.1234C>T p.L412F Missense 9/9 - 3
16-30097623-GA-G c.1233del p.L412Sfs*86 Frameshift 9/9 - 2
16-30097630-C-A c.1227G>T p.P409= Synonymous 9/9 - 2
16-30097630-C-G c.1227G>C p.P409= Synonymous 9/9 - 40
16-30097630-C-T c.1227G>A p.P409= Synonymous 9/9 - 40
16-30097631-G-A c.1226C>T p.P409L Missense 9/9 - 4
16-30097638-A-G c.1219T>C p.F407L Missense 9/9 - 3
16-30097640-G-C c.1217C>G p.P406R Missense 9/9 - 1
16-30097640-G-T c.1217C>A p.P406H Missense 9/9 - 2
16-30097645-C-A c.1212G>T p.A404= Synonymous 9/9 - 2
16-30097645-C-G c.1212G>C p.A404= Synonymous 9/9 - 1
16-30097645-C-T c.1212G>A p.A404= Synonymous 9/9 - 3
16-30097646-G-A c.1211C>T p.A404V Missense 9/9 - 1
16-30097648-C-T c.1209G>A p.P403= Synonymous 9/9 - 1
16-30097652-G-C c.1205C>G p.P402R Missense 9/9 - 1
16-30097654-A-G c.1203T>C p.A401= Synonymous 9/9 - 1
16-30097656-C-T c.1201G>A p.A401T Missense 9/9 - 1
16-30097659-C-A c.1198G>T p.A400S Missense 9/9 - 1
16-30097664-T-G c.1193A>C p.Y398S Missense 9/9 - 1
16-30097666-C-G c.1191G>C p.G397= Synonymous 9/9 - 1
16-30097668-C-G c.1189G>C p.G397R Missense 9/9 - 2
16-30097668-C-T c.1189G>A p.G397R Missense 9/9 - 3
16-30097669-G-A c.1188C>T p.S396= Synonymous 9/9 - 2
16-30097669-G-C c.1188C>G p.S396= Synonymous 9/9 - 1
16-30097669-G-T c.1188C>A p.S396= Synonymous 9/9 - 1
16-30097673-C-T c.1184G>A p.G395D Missense 9/9 - 2
16-30097674-C-T c.1183G>A p.G395S Missense 9/9 - 2
16-30097672-G-GC c.1184dup p.S396Lfs*91 Frameshift 9/9 - 1
16-30097677-CCT-C c.1179_1180del p.G395Lfs*91 Frameshift 9/9 - 5
16-30097677-C-G c.1180G>C p.G394R Missense 9/9 - 1
16-30097677-C-T c.1180G>A p.G394R Missense 9/9 - 1
16-30097683-C-A c.1174G>T p.G392W Missense 9/9 - 1
16-30097683-C-T c.1174G>A p.G392R Missense 9/9 - 4
16-30097684-G-A c.1173C>T p.H391= Synonymous 9/9 - 1
16-30097687-C-A c.1170G>T p.P390= Synonymous 9/9 - 1
16-30097687-C-G c.1170G>C p.P390= Synonymous 9/9 - 1
16-30097687-C-T c.1170G>A p.P390= Synonymous 9/9 - 4
16-30097688-G-A c.1169C>T p.P390L Missense 9/9 - 1
16-30097687-C-CG c.1169dup p.H391Afs*96 Frameshift 9/9 - 4
16-30097693-C-T c.1164G>A p.E388= Synonymous 9/9 - 2
16-30097695-CC-AA c.1161_1162delinsTT p.E388* Missense 9/9 - 1
16-30097696-CAG-AAA c.1159_1161delinsTTT p.L387F Missense 9/9 - 1
16-30097699-A-G c.1158T>C p.F386= Synonymous 9/9 - 1
16-30097703-G-C c.1154C>G p.A385G Missense 9/9 - 1
16-30097705-A-G c.1152T>C p.A384= Synonymous 9/9 - 1
16-30097705-A-T c.1152T>A p.A384= Synonymous 9/9 - 1
16-30097708-C-A c.1149G>T p.S383= Synonymous 9/9 - 1
16-30097708-C-T c.1149G>A p.S383= Synonymous 9/9 - 1
16-30097709-G-T c.1148C>A p.S383* Nonsense 9/9 - 2
16-30097711-G-T c.1146C>A p.Y382* Nonsense 9/9 - 1
16-30097724-C-T c.1133G>A p.R378H Missense 9/9 - 5
16-30097725-G-A c.1132C>T p.R378C Missense 9/9 - 1
16-30097728-C-T c.1129G>A p.G377R Missense 9/9 - 1
16-30097729-G-A c.1128C>T p.S376= Synonymous 9/9 - 3
16-30097729-G-C c.1128C>G p.S376= Synonymous 9/9 - 1
16-30097730-G-C c.1127C>G p.S376C Missense 9/9 - 2
16-30097731-A-T c.1126T>A p.S376T Missense 9/9 - 4
16-30097743-C-T c.1114G>A p.E372K Missense 9/9 - 1
16-30097744-C-T c.1113G>A p.P371= Synonymous 9/9 - 1
16-30097745-G-A c.1112C>T p.P371L Missense 9/9 - 3
16-30097745-G-T c.1112C>A p.P371Q Missense 9/9 - 2
16-30097752-T-TA c.1104_1105insT p.S369* Nonsense 9/9 - 1
16-30097753-G-A c.1104C>T p.P368= Synonymous 9/9 - 2
16-30097753-G-C c.1104C>G p.P368= Synonymous 9/9 - 1
16-30097753-G-T c.1104C>A p.P368= Synonymous 9/9 - 1
16-30097755-G-A c.1102C>T p.P368S Missense 9/9 - 1
16-30097756-G-A c.1101C>T p.S367= Synonymous 9/9 - 1
16-30097757-C-A c.1100G>T p.S367I Missense 9/9 - 2
16-30097757-C-T c.1100G>A p.S367N Missense 9/9 - 1
16-30097838-G-A c.1092C>T p.P364= Synonymous 8/9 - 1
16-30097839-G-A c.1091C>T p.P364L Missense 8/9 - 2
16-30097840-G-A c.1090C>T p.P364S Missense 8/9 - 2
16-30097840-G-C c.1090C>G p.P364A Missense 8/9 - 1
16-30097842-A-G c.1088T>C p.L363P Missense 8/9 - 1
16-30097848-C-A c.1082G>T p.S361I Missense 8/9 - 2
16-30097848-C-G c.1082G>C p.S361T Missense 8/9 - 1
16-30097857-C-T c.1073G>A p.G358E Missense 8/9 - 2
16-30097854-GC-G c.1075del p.A359Pfs*139 Frameshift 8/9 - 1
16-30097859-A-C c.1071T>G p.H357Q Missense 8/9 - 1
16-30097859-A-T c.1071T>A p.H357Q Missense 8/9 - 1
16-30097868-C-T c.1062G>A p.A354= Synonymous 8/9 - 1
16-30097869-G-A c.1061C>T p.A354V Missense 8/9 - 3
16-30097873-G-T c.1057C>A p.P353T Missense 8/9 - 7
16-30097877-C-A c.1053G>T p.L351= Synonymous 8/9 - 1
16-30097877-C-G c.1053G>C p.L351= Synonymous 8/9 - 1
16-30097877-C-T c.1053G>A p.L351= Synonymous 8/9 - 1
16-30097879-G-A c.1051C>T p.L351= Synonymous 8/9 - 1
16-30097883-G-T c.1047C>A p.Y349* Nonsense 8/9 - 1
16-30097887-G-A c.1043C>T p.A348V Missense 8/9 - 3
16-30097891-C-A c.1039G>T p.E347* Nonsense 8/9 - 1
16-30097892-A-G c.1038T>C p.A346= Synonymous 8/9 - 1
16-30097897-CT-C c.1033del p.S345Vfs*153 Frameshift 8/9 - 2
16-30097910-CAG-C c.1018_1019del p.L340Vfs*7 Frameshift 8/9 - 1
16-30097915-G-A c.1015C>T p.P339S Missense 8/9 - 1
16-30097915-G-T c.1015C>A p.P339T Missense 8/9 - 2
16-30097917-G-A c.1013C>T p.A338V Missense 8/9 - 3
16-30097918-C-T c.1012G>A p.A338T Missense 8/9 - 2
16-30097919-C-T c.1011G>A p.P337= Synonymous 8/9 - 1
16-30097920-G-A c.1010C>T p.P337L Missense 8/9 - 1
16-30097924-C-A c.1006G>T p.A336S Missense 8/9 - 1
16-30097924-C-T c.1006G>A p.A336T Missense 8/9 - 2
16-30097927-C-T c.1003G>A p.A335T Missense 8/9 - 2
16-30097927-CGGTG-C c.999_1002del p.T334Lfs*163 Frameshift 8/9 - 1
16-30097933-C-T c.997G>A p.A333T Missense 8/9 - 1
16-30097937-C-A c.993G>T p.G331= Synonymous 8/9 - 1
16-30097937-C-G c.993G>C p.G331= Synonymous 8/9 - 1
16-30097937-C-T c.993G>A p.G331= Synonymous 8/9 - 1
16-30097935-TC-T c.994del p.E332Kfs*166 Frameshift 8/9 - 1
16-30097939-C-T c.991G>A p.G331R Missense 8/9 - 2
16-30097940-G-A c.990C>T p.P330= Synonymous 8/9 - 2
16-30097945-C-G c.985G>C p.A329P Missense 8/9 - 1
16-30097948-G-C c.982C>G p.P328A Missense 8/9 - 2
16-30097950-G-A c.980C>T p.A327V Missense 8/9 - 1
16-30097953-TG-GT c.976_977delinsAC p.Q326T Missense 8/9 - 1
16-30097954-G-A c.976C>T p.Q326* Nonsense 8/9 - 1
16-30097955-T-C c.975A>G p.E325= Synonymous 8/9 - 2
16-30097958-T-A c.972A>T p.P324= Synonymous 8/9 - 2
16-30097958-T-C c.972A>G p.P324= Synonymous 8/9 - 2
16-30097958-T-G c.972A>C p.P324= Synonymous 8/9 - 2
16-30097962-T-G c.968A>C p.D323A Missense 8/9 - 1
16-30097963-C-A c.967G>T p.D323Y Missense 8/9 - 1
16-30097964-TG-AC c.965_966delinsGT p.S322C Missense 8/9 - 1
16-30097967-T-C c.963A>G p.E321= Synonymous 8/9 - 1
16-30097968-T-C c.962A>G p.E321G Missense 8/9 - 1
16-30097970-ACG-TCA c.958_960delinsTGA p.R320* Nonsense 8/9 - 1
16-30097971-C-T c.959G>A p.R320H Missense 8/9 - 1
16-30097978-C-T c.952G>A p.D318N Missense 8/9 - 1
16-30097983-C-T c.947G>A p.G316D Missense 8/9 - 3
16-30097985-C-A c.945G>T p.L315= Synonymous 8/9 - 2
16-30097988-G-A c.942C>T p.T314= Synonymous 8/9 - 1
16-30097996-C-T c.934G>A p.D312N Missense 8/9 - 3
16-30097997-G-T c.933C>A p.C311* Nonsense 8/9 - 3
16-30098001-G-A c.929C>T p.P310L Missense 8/9 - 2
16-30098010-G-C c.920C>G p.P307R Missense 8/9 - 1
16-30098010-GGT-G c.918_919del p.P307Rfs*14 Frameshift 8/9 - 1
16-30098022-G-A c.914-6C>T - IntronicSNV - 7/8 1
16-30098022-G-T c.914-6C>A - IntronicSNV - 7/8 1
16-30098097-A-G c.913+2T>C - IntronicSNV - 7/8 1
16-30098101-C-A c.911G>T p.G304V Missense 7/9 - 6
16-30098103-G-A c.909C>T p.S303= Synonymous 7/9 - 1
16-30098107-C-T c.905G>A p.G302E Missense 7/9 - 1
16-30098109-A-C c.903T>G p.Y301* Nonsense 7/9 - 1
16-30098110-T-C c.902A>G p.Y301C Missense 7/9 - 1
16-30098115-C-A c.897G>T p.E299D Missense 7/9 - 1
16-30098115-C-G c.897G>C p.E299D Missense 7/9 - 1
16-30098117-C-A c.895G>T p.E299* Nonsense 7/9 - 2
16-30098117-C-T c.895G>A p.E299K Missense 7/9 - 1
16-30098135-G-T c.877C>A p.P293T Missense 7/9 - 3
16-30098137-C-T c.875G>A p.G292D Missense 7/9 - 1
16-30098140-C-A c.872G>T p.R291L Missense 7/9 - 1
16-30098140-C-T c.872G>A p.R291Q Missense 7/9 - 2
16-30098141-G-A c.871C>T p.R291W Missense 7/9 - 3
16-30098142-C-T c.870G>A p.L290= Synonymous 7/9 - 1
16-30098143-A-G c.869T>C p.L290P Missense 7/9 - 1
16-30098145-T-C c.867A>G p.K289= Synonymous 7/9 - 2
16-30098149-C-G c.863G>C p.R288T Missense 7/9 - 1
16-30098154-C-T c.858G>A p.V286= Synonymous 7/9 - 1
16-30098159-G-A c.853C>T p.R285C Missense 7/9 - 1
16-30098162-C-T c.850G>A p.A284T Missense 7/9 - 2
16-30098163-G-A c.849C>T p.D283= Synonymous 7/9 - 2
16-30098163-G-C c.849C>G p.D283E Missense 7/9 - 4
16-30098163-G-T c.849C>A p.D283E Missense 7/9 - 5
16-30098167-C-T c.845G>A p.R282Q Missense 7/9 - 1
16-30098168-G-A c.844C>T p.R282* Nonsense 7/9 - 7
16-30098168-G-C c.844C>G p.R282G Missense 7/9 - 1
16-30098204-A-G c.840-32T>C - IntronicSNV - 6/8 1
16-30099814-T-C c.839+52A>G - IntronicSNV - 6/8 1
16-30099851-A-G c.839+15T>C - IntronicSNV - 6/8 1
16-30099859-C-G c.839+7G>C - IntronicSNV - 6/8 1
16-30099866-C-G c.839G>C p.R280T Missense 6/9 - 1
16-30099872-C-T c.833G>A p.C278Y Missense 6/9 - 5
16-30099872-C-G c.833G>C p.C278S Missense 6/9 - 1
16-30099874-G-T c.831C>A p.N277K Missense 6/9 - 1
16-30099875-T-C c.830A>G p.N277S Missense 6/9 - 1
16-30099882-C-T c.823G>A p.G275S Missense 6/9 - 2
16-30099883-G-A c.822C>T p.N274= Synonymous 6/9 - 1
16-30099883-GTTC-G c.819_821del p.E273_N274delinsD MultiAAMissense 6/9 - 1
16-30099886-C-T c.819G>A p.E273= Synonymous 6/9 - 1
16-30099890-C-T c.815G>A p.R272Q Missense 6/9 - 13
16-30099891-G-A c.814C>T p.R272W Missense 6/9 - 3
16-30099894-A-T c.811T>A p.F271I Missense 6/9 - 5
16-30099897-C-T c.808G>A p.G270S Missense 6/9 - 1
16-30099910-A-C c.795T>G p.N265K Missense 6/9 - 1
16-30099910-A-T c.795T>A p.N265K Missense 6/9 - 4
16-30099914-G-C c.791C>G p.A264G Missense 6/9 - 1
16-30099915-C-T c.790G>A p.A264T Missense 6/9 - 1
16-30099918-C-T c.787G>A p.A263T Missense 6/9 - 1
16-30099920-A-G c.785T>C p.I262T Missense 6/9 - 1
16-30099924-T-G c.781A>C p.K261Q Missense 6/9 - 1
16-30099925-CAG-AAA c.778_780delinsTTT p.L260F Missense 6/9 - 2
16-30100018-G-T c.764C>A p.P255Q Missense 5/9 - 1
16-30100023-C-T c.759G>A p.Q253= Synonymous 5/9 - 1
16-30100028-A-T c.754T>A p.Y252N Missense 5/9 - 1
16-30100037-C-T c.745G>A p.V249M Missense 5/9 - 3
16-30100038-G-A c.744C>T p.S248= Synonymous 5/9 - 3
16-30100038-G-C c.744C>G p.S248= Synonymous 5/9 - 2
16-30100038-G-T c.744C>A p.S248= Synonymous 5/9 - 2
16-30100045-A-G c.737T>C p.F246S Missense 5/9 - 1
16-30100046-A-G c.736T>C p.F246L Missense 5/9 - 1
16-30100047-TG-CA c.734_735inv p.T245M Missense 5/9 - 1
16-30100054-T-A c.728A>T p.E243V Missense 5/9 - 1
16-30100055-C-T c.727G>A p.E243K Missense 5/9 - 2
16-30100056-G-A c.726C>T p.P242= Synonymous 5/9 - 1
16-30100056-G-C c.726C>G p.P242= Synonymous 5/9 - 1
16-30100056-G-T c.726C>A p.P242= Synonymous 5/9 - 1
16-30100057-G-A c.725C>T p.P242L Missense 5/9 - 1
16-30100058-G-A c.724C>T p.P242S Missense 5/9 - 1
16-30100060-A-C c.722T>G p.F241C Missense 5/9 - 1
16-30100063-C-T c.719G>A p.R240H Missense 5/9 - 2
16-30100064-G-A c.718C>T p.R240C Missense 5/9 - 4
16-30100069-G-A c.713C>T p.S238F Missense 5/9 - 1
16-30100073-C-A c.709G>T p.A237S Missense 5/9 - 2
16-30100074-C-T c.708G>A p.M236I Missense 5/9 - 1
16-30100075-A-AC c.706_707insG p.M236Sfs*44 Frameshift 5/9 - 1
16-30100076-T-TC c.705_706insG p.M236Dfs*44 Frameshift 5/9 - 1
16-30100076-T-TG c.705dup p.M236Hfs*44 Frameshift 5/9 - 2
16-30100078-C-T c.704G>A p.G235D Missense 5/9 - 2
16-30100079-C-A c.703G>T p.G235C Missense 5/9 - 1
16-30100079-C-T c.703G>A p.G235S Missense 5/9 - 1
16-30100080-C-T c.702G>A p.G234= Synonymous 5/9 - 1
16-30100081-C-A c.701G>T p.G234V Missense 5/9 - 1
16-30100081-C-T c.701G>A p.G234E Missense 5/9 - 1
16-30100082-C-G c.700G>C p.G234R Missense 5/9 - 1
16-30100083-C-A c.699G>T p.W233C Missense 5/9 - 1
16-30100083-C-G c.699G>C p.W233C Missense 5/9 - 5
16-30100083-C-T c.699G>A p.W233* Nonsense 5/9 - 3
16-30100077-GC-G c.704del p.G235Afs*15 Frameshift 5/9 - 3
16-30100077-G-GC c.704dup p.M236Hfs*44 Frameshift 5/9 - 10
16-30100084-C-G c.698G>C p.W233S Missense 5/9 - 1
16-30100088-G-A c.694C>T p.H232Y Missense 5/9 - 1
16-30100090-T-G c.692A>C p.Q231P Missense 5/9 - 1
16-30100097-A-C c.685T>G p.C229G Missense 5/9 - 1
16-30100101-C-A c.681G>T p.Q227H Missense 5/9 - 1
16-30100101-C-G c.681G>C p.Q227H Missense 5/9 - 1
16-30100111-CCGA-C c.669_671del p.R224del InFrameDeletion 5/9 - 1
16-30100111-C-T c.671G>A p.R224Q Missense 5/9 - 1
16-30100112-G-A c.670C>T p.R224W Missense 5/9 - 2
16-30100113-A-G c.669T>C p.V223= Synonymous 5/9 - 1
16-30100115-C-T c.667G>A p.V223I Missense 5/9 - 1
16-30100118-G-T c.664C>A p.L222I Missense 5/9 - 2
16-30100121-G-T c.661C>A p.H221N Missense 5/9 - 1
16-30100125-GC-TT c.656_657delinsAA p.R219Q Missense 5/9 - 2
16-30100126-C-A c.656G>T p.R219L Missense 5/9 - 1
16-30100126-C-T c.656G>A p.R219H Missense 5/9 - 6
16-30100127-G-A c.655C>T p.R219C Missense 5/9 - 1
16-30100128-G-A c.654C>T p.P218= Synonymous 5/9 - 1
16-30100128-G-C c.654C>G p.P218= Synonymous 5/9 - 1
16-30100128-G-T c.654C>A p.P218= Synonymous 5/9 - 1
16-30100136-A-C c.646T>G p.Y216D Missense 5/9 - 2
16-30100141-T-A c.641A>T p.H214L Missense 5/9 - 1
16-30100143-C-T c.639G>A p.M213I Missense 5/9 - 1
16-30100147-GA-AG c.634_635delinsCT p.S212L Missense 5/9 - 2
16-30100148-A-C c.634T>G p.S212A Missense 5/9 - 1
16-30100149-G-T c.633C>A p.H211Q Missense 5/9 - 1
16-30100150-T-C c.632A>G p.H211R Missense 5/9 - 1
16-30100263-C-T c.621+1G>A - IntronicSNV - 4/8 1
16-30100269-C-T c.616G>A p.G206S Missense 4/9 - 1
16-30100272-G-C c.613C>G p.H205D Missense 4/9 - 1
16-30100272-G-T c.613C>A p.H205N Missense 4/9 - 1
16-30100274-G-A c.611C>T p.P204L Missense 4/9 - 2
16-30100274-G-T c.611C>A p.P204H Missense 4/9 - 1
16-30100275-G-A c.610C>T p.P204S Missense 4/9 - 1
16-30100276-G-A c.609C>T p.D203= Synonymous 4/9 - 1
16-30100279-C-A c.606G>T p.L202= Synonymous 4/9 - 1
16-30100283-G-A c.602C>T p.T201M Missense 4/9 - 2
16-30100286-C-CT c.598dup p.S200Kfs*80 Frameshift 4/9 - 1
16-30100288-G-C c.597C>G p.N199K Missense 4/9 - 1
16-30100288-G-T c.597C>A p.N199K Missense 4/9 - 1
16-30100291-G-T c.594C>A p.T198= Synonymous 4/9 - 1
16-30100292-G-A c.593C>T p.T198I Missense 4/9 - 1
16-30100293-T-C c.592A>G p.T198A Missense 4/9 - 1
16-30100295-A-G c.590T>C p.L197P Missense 4/9 - 4
16-30100304-C-T c.581G>A p.R194H Missense 4/9 - 4
16-30100305-G-A c.580C>T p.R194C Missense 4/9 - 1
16-30100305-G-C c.580C>G p.R194G Missense 4/9 - 1
16-30100305-G-T c.580C>A p.R194S Missense 4/9 - 1
16-30100307-T-C c.578A>G p.H193R Missense 4/9 - 1
16-30100308-G-A c.577C>T p.H193Y Missense 4/9 - 1
16-30100308-G-T c.577C>A p.H193N Missense 4/9 - 1
16-30100309-G-C c.576C>G p.F192L Missense 4/9 - 1
16-30100309-G-T c.576C>A p.F192L Missense 4/9 - 1
16-30100311-A-G c.574T>C p.F192L Missense 4/9 - 1
16-30100313-G-A c.572C>T p.S191F Missense 4/9 - 1
16-30100314-A-G c.571T>C p.S191P Missense 4/9 - 1
16-30100317-C-T c.568G>A p.V190M Missense 4/9 - 1
16-30100325-C-T c.560G>A p.R187Q Missense 4/9 - 2
16-30100326-G-A c.559C>T p.R187W Missense 4/9 - 1
16-30100338-C-A c.547G>T p.A183S Missense 4/9 - 1
16-30100338-C-T c.547G>A p.A183T Missense 4/9 - 1
16-30100344-T-C c.541A>G p.T181A Missense 4/9 - 2
16-30100350-G-A c.535C>T p.P179S Missense 4/9 - 3
16-30100352-G-A c.533C>T p.S178F Missense 4/9 - 2
16-30100358-G-T c.527C>A p.P176H Missense 4/9 - 1
16-30100359-G-T c.526C>A p.P176T Missense 4/9 - 2
16-30100361-T-G c.524A>C p.H175P Missense 4/9 - 1
16-30100364-A-T c.521T>A p.I174N Missense 4/9 - 1
16-30100367-T-C c.518A>G p.Y173C Missense 4/9 - 1
16-30100373-C-A c.512G>T p.R171L Missense 4/9 - 2
16-30100373-C-T c.512G>A p.R171H Missense 4/9 - 3
16-30100374-G-A c.511C>T p.R171C Missense 4/9 - 2
16-30100381-C-A c.504G>T p.L168= Synonymous 4/9 - 2
16-30100381-C-G c.504G>C p.L168= Synonymous 4/9 - 2
16-30100381-C-T c.504G>A p.L168= Synonymous 4/9 - 2
16-30100382-A-G c.503T>C p.L168P Missense 4/9 - 1
16-30100383-G-A c.502C>T p.L168= Synonymous 4/9 - 3
16-30100385-C-T c.500G>A p.R167H Missense 4/9 - 1
16-30100386-G-A c.499C>T p.R167C Missense 4/9 - 5
16-30100392-C-G c.493G>C p.E165Q Missense 4/9 - 1
16-30100401-C-T c.484G>A p.G162S Missense 4/9 - 16
16-30100402-G-A c.483C>T p.S161= Synonymous 4/9 - 2
16-30100410-C-T c.475G>A p.E159K Missense 4/9 - 1
16-30100411-C-T c.474G>A p.W158* Nonsense 4/9 - 3
16-30100412-C-T c.473G>A p.W158* Nonsense 4/9 - 3
16-30100415-C-T c.470G>A p.R157H Missense 4/9 - 1
16-30100416-G-A c.469C>T p.R157C Missense 4/9 - 1
16-30100417-C-T c.468G>A p.R156= Synonymous 4/9 - 1
16-30100418-C-A c.467G>T p.R156L Missense 4/9 - 1
16-30100419-G-A c.466C>T p.R156W Missense 4/9 - 1
16-30100421-C-T c.464G>A p.G155D Missense 4/9 - 1
16-30100425-G-T c.460C>A p.Q154K Missense 4/9 - 1
16-30100430-C-T c.455G>A p.R152H Missense 4/9 - 1
16-30100431-G-A c.454C>T p.R152C Missense 4/9 - 2
16-30100436-C-T c.449G>A p.R150H Missense 4/9 - 2
16-30100437-G-A c.448C>T p.R150C Missense 4/9 - 3
16-30100437-G-C c.448C>G p.R150G Missense 4/9 - 1
16-30100440-C-T c.445G>A p.A149T Missense 4/9 - 1
16-30100445-T-A c.440A>T p.D147V Missense 4/9 - 1
16-30100446-C-T c.439G>A p.D147N Missense 4/9 - 1
16-30100447-C-T c.438G>A p.V146= Synonymous 4/9 - 1
16-30100451-G-A c.434C>T p.P145L Missense 4/9 - 12
16-30100452-G-C c.433C>G p.P145A Missense 4/9 - 1
16-30100454-A-G c.431T>C p.I144T Missense 4/9 - 1
16-30100461-C-A c.424G>T p.D142Y Missense 4/9 - 2
16-30100461-C-G c.424G>C p.D142H Missense 4/9 - 3
16-30100463-A-G c.422T>C p.L141P Missense 4/9 - 1
16-30100467-G-A c.418C>T p.L140F Missense 4/9 - 3
16-30100468-A-C c.417T>G p.F139L Missense 4/9 - 1
16-30100468-A-T c.417T>A p.F139L Missense 4/9 - 1
16-30100470-A-G c.415T>C p.F139L Missense 4/9 - 1
16-30100473-A-T c.412T>A p.L138M Missense 4/9 - 1
16-30100475-TA-GC c.409_410delinsGC p.Y137A Missense 4/9 - 1
16-30100477-G-A c.408C>T p.R136= Synonymous 4/9 - 1
16-30100477-G-C c.408C>G p.R136= Synonymous 4/9 - 1
16-30100477-G-T c.408C>A p.R136= Synonymous 4/9 - 1
16-30100478-C-T c.407G>A p.R136H Missense 4/9 - 2
16-30100479-G-A c.406C>T p.R136C Missense 4/9 - 2
16-30100485-C-T c.400G>A p.E134K Missense 4/9 - 4
16-30100486-G-A c.399C>T p.P133= Synonymous 4/9 - 1
16-30100486-G-T c.399C>A p.P133= Synonymous 4/9 - 1
16-30100487-G-A c.398C>T p.P133L Missense 4/9 - 1
16-30100489-G-C c.396C>G p.D132E Missense 4/9 - 1
16-30100498-A-C c.387T>G p.T129= Synonymous 4/9 - 1
16-30100498-A-G c.387T>C p.T129= Synonymous 4/9 - 1
16-30100498-AG-CA c.386_387delinsTG p.T129M Missense 4/9 - 1
16-30100498-A-T c.387T>A p.T129= Synonymous 4/9 - 1
16-30100507-C-T c.378G>A p.V126= Synonymous 4/9 - 1
16-30100511-C-T c.374G>A p.R125Q Missense 4/9 - 1
16-30100516-G-A c.369C>T p.A123= Synonymous 4/9 - 1
16-30100518-C-T c.367G>A p.A123T Missense 4/9 - 1
16-30100525-C-T c.360G>A p.M120I Missense 4/9 - 2
16-30100527-T-C c.358A>G p.M120V Missense 4/9 - 1
16-30100529-C-T c.356G>A p.R119H Missense 4/9 - 6
16-30100530-G-A c.355C>T p.R119C Missense 4/9 - 4
16-30101596-C-A c.353+483G>T - IntronicSNV - 3/8 2
16-30102070-GC-G c.353+8del - IntronicDeletion - 3/8 2
16-30102078-C-T c.353+1G>A - IntronicSNV - 3/8 1
16-30102079-C-A c.353G>T p.R118M Missense 3/9 - 1
16-30102080-T-A c.352A>T p.R118W Missense 3/9 - 1
16-30102086-C-CT c.345dup p.A116Sfs*55 Frameshift 3/9 - 3
16-30102099-C-A c.333G>T p.M111I Missense 3/9 - 2
16-30102101-T-C c.331A>G p.M111V Missense 3/9 - 1
16-30102104-C-A c.328G>T p.E110* Nonsense 3/9 - 1
16-30102110-C-A c.322G>T p.G108* Nonsense 3/9 - 1
16-30102113-C-A c.319G>T p.V107L Missense 3/9 - 1
16-30102118-C-A c.314G>T p.S105I Missense 3/9 - 1
16-30102123-C-A c.309G>T p.E103D Missense 3/9 - 1
16-30102122-ACTCCTTC-A c.303_309del p.W101Cfs*9 Frameshift 3/9 - 1
16-30102131-A-G c.301T>C p.W101R Missense 3/9 - 1
16-30102133-TA-T c.299del p.L100Hfs*12 Frameshift 3/9 - 1
16-30102143-T-G c.289A>C p.N97H Missense 3/9 - 1
16-30102147-C-T c.285G>A p.L95= Synonymous 3/9 - 2
16-30102148-A-G c.284T>C p.L95P Missense 3/9 - 1
16-30102151-C-G c.281G>C p.S94T Missense 3/9 - 1
16-30102152-T-C c.280A>G p.S94G Missense 3/9 - 1
16-30102154-A-T c.278T>A p.L93Q Missense 3/9 - 1
16-30102160-A-AC c.271dup p.V91Gfs*80 Frameshift 3/9 - 1
16-30102165-C-A c.267G>T p.P89= Synonymous 3/9 - 1
16-30102165-C-G c.267G>C p.P89= Synonymous 3/9 - 1
16-30102165-C-T c.267G>A p.P89= Synonymous 3/9 - 2
16-30102166-G-A c.266C>T p.P89L Missense 3/9 - 6
16-30102166-G-T c.266C>A p.P89Q Missense 3/9 - 2
16-30102165-C-CG c.266dup p.V91Gfs*80 Frameshift 3/9 - 5
16-30102172-G-A c.260C>T p.S87F Missense 3/9 - 1
16-30102174-A-C c.258T>G p.H86Q Missense 3/9 - 1
16-30102174-A-T c.258T>A p.H86Q Missense 3/9 - 1
16-30102180-GGC-CCA c.250_252delinsTGG p.A84W Missense 3/9 - 1
16-30102180-GGC-TTA c.250_252delinsTAA p.A84* Nonsense 3/9 - 1
16-30102181-GC-TA c.250_251delinsTA p.A84Y Missense 3/9 - 1
16-30102183-C-A c.249G>T p.E83D Missense 3/9 - 3
16-30102188-G-T c.244C>A p.P82T Missense 3/9 - 1
16-30102193-G-A c.239C>T p.S80L Missense 3/9 - 2
16-30102197-G-T c.235C>A p.P79T Missense 3/9 - 1
16-30102201-C-T c.231G>A p.P77= Synonymous 3/9 - 1
16-30102211-C-T c.221G>A p.G74D Missense 3/9 - 1
16-30102216-GG-CT c.215_216delinsAG p.A72E Missense 3/9 - 1
16-30102217-G-T c.215C>A p.A72D Missense 3/9 - 1
16-30102222-G-A c.210C>T p.P70= Synonymous 3/9 - 1
16-30102226-A-C c.206T>G p.L69R Missense 3/9 - 1
16-30102226-A-G c.206T>C p.L69P Missense 3/9 - 2
16-30102227-G-C c.205C>G p.L69V Missense 3/9 - 1
16-30102227-G-T c.205C>A p.L69M Missense 3/9 - 1
16-30102231-G-A c.201C>T p.P67= Synonymous 3/9 - 3
16-30102238-G-A c.194C>T p.P65L Missense 3/9 - 2
16-30102239-G-A c.193C>T p.P65S Missense 3/9 - 1
16-30102246-C-A c.186G>T p.A62= Synonymous 3/9 - 1
16-30102246-C-G c.186G>C p.A62= Synonymous 3/9 - 1
16-30102246-C-T c.186G>A p.A62= Synonymous 3/9 - 1
16-30102248-C-T c.184G>A p.A62T Missense 3/9 - 1
16-30102249-G-A c.183C>T p.A61= Synonymous 3/9 - 1
16-30102249-G-C c.183C>G p.A61= Synonymous 3/9 - 1
16-30102249-G-T c.183C>A p.A61= Synonymous 3/9 - 1
16-30102259-C-T c.173G>A p.R58H Missense 3/9 - 1
16-30102263-G-A c.169C>T p.P57S Missense 3/9 - 2
16-30102264-AGC-CTT c.166_168delinsAAG p.A56K Missense 3/9 - 1
16-30102268-G-A c.164C>T p.A55V Missense 3/9 - 1
16-30102268-G-C c.164C>G p.A55G Missense 3/9 - 3
16-30102272-C-T c.160G>A p.E54K Missense 3/9 - 1
16-30102275-TC-T c.156del p.M53Wfs*41 Frameshift 3/9 - 2
16-30102278-C-T c.154G>A p.G52R Missense 3/9 - 1
16-30102280-G-A c.152C>T p.S51F Missense 3/9 - 5
16-30102293-C-A c.139G>T p.D47Y Missense 3/9 - 1
16-30102292-TC-T c.139del p.D47Ifs*47 Frameshift 3/9 - 1
16-30102294-C-T c.138G>A p.L46= Synonymous 3/9 - 1
16-30102311-G-A c.121C>T p.L41= Synonymous 3/9 - 1
16-30102311-G-C c.121C>G p.L41V Missense 3/9 - 1
16-30102321-C-T c.119-8G>A - IntronicSNV - 2/8 1
16-30102391-G-A c.118+6C>T - IntronicSNV - 2/8 2
16-30102396-C-G c.118+1G>C - IntronicSNV - 2/8 1
16-30102397-C-T c.118G>A p.E40K Missense 2/9 - 4
16-30102405-C-T c.110G>A p.R37H Missense 2/9 - 1
16-30102411-C-T c.104G>A p.G35D Missense 2/9 - 4
16-30102416-C-A c.99G>T p.A33= Synonymous 2/9 - 1
16-30102416-C-G c.99G>C p.A33= Synonymous 2/9 - 1
16-30102416-C-T c.99G>A p.A33= Synonymous 2/9 - 1
16-30102417-G-A c.98C>T p.A33V Missense 2/9 - 1
16-30102425-G-A c.90C>T p.P30= Synonymous 2/9 - 1
16-30102429-G-A c.86C>T p.P29L Missense 2/9 - 1
16-30102430-G-A c.85C>T p.P29S Missense 2/9 - 1
16-30102435-C-G c.80G>C p.S27T Missense 2/9 - 1
16-30102435-CT-GC c.79_80delinsGC p.S27A Missense 2/9 - 1
16-30102439-A-AG c.75dup p.S26Lfs*20 Frameshift 2/9 - 1
16-30102443-GGC-TTA c.70_72delinsTAA p.A24* Nonsense 2/9 - 1
16-30102447-C-A c.68G>T p.G23V Missense 2/9 - 1
16-30102458-G-A c.57C>T p.P19= Synonymous 2/9 - 1
16-30102463-C-T c.52G>A p.G18R Missense 2/9 - 1
16-30102468-C-A c.47G>T p.R16L Missense 2/9 - 1
16-30102468-C-T c.47G>A p.R16H Missense 2/9 - 1
16-30102478-C-T c.37G>A p.A13T Missense 2/9 - 1
16-30102485-G-A c.30C>T p.S10= Synonymous 2/9 - 1
16-30102486-G-C c.29C>G p.S10C Missense 2/9 - 1
16-30102487-A-C c.28T>G p.S10A Missense 2/9 - 2
16-30102487-A-T c.28T>A p.S10T Missense 2/9 - 1
16-30102489-G-A c.26C>T p.P9L Missense 2/9 - 1
16-30102489-G-C c.26C>G p.P9R Missense 2/9 - 1
16-30102489-G-T c.26C>A p.P9Q Missense 2/9 - 1
16-30102492-T-C c.23A>G p.Y8C Missense 2/9 - 2
16-30102497-T-C c.18A>G p.E6= Synonymous 2/9 - 1
16-30102498-T-A c.17A>T p.E6V Missense 2/9 - 1
16-30102501-C-G c.14G>C p.R5P Missense 2/9 - 1
16-30102524-C-A c.-10G>T - 5-UTRSNV 2/9 - 1
16-30102524-C-T c.-10G>A - 5-UTRSNV 2/9 - 1
16-30102551-G-C c.-37C>G - 5-UTRSNV 2/9 - 1
16-30102768-G-A c.-48-206C>T - IntronicSNV - 1/8 1
16-30102802-T-C c.-48-240A>G - IntronicSNV - 1/8 18
16-30103160-C-A c.-49+34G>T - intron_variant - 1/8 26