SIRT2

SIRT2 sirtuin 2

Annotation transcript: NM_012237.4

439 unique variant annotations were identified in 496 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
19-39369369-T-G c.*426A>C - 3-UTRSNV 16/16 - 59
19-39369514-G-A c.*281C>T - 3-UTRSNV 16/16 - 7
19-39369514-G-T c.*281C>A - 3-UTRSNV 16/16 - 7
19-39369635-G-T c.*160C>A - 3-UTRSNV 16/16 - 3
19-39369800-G-A c.1165C>T p.Q389* Nonsense 16/16 - 1
19-39369801-G-A c.1164C>T p.P388= Synonymous 16/16 - 2
19-39369801-G-C c.1164C>G p.P388= Synonymous 16/16 - 1
19-39369801-G-T c.1164C>A p.P388= Synonymous 16/16 - 2
19-39369802-G-A c.1163C>T p.P388L Missense 16/16 - 2
19-39369807-C-G c.1158G>C p.E386D Missense 16/16 - 1
19-39369808-T-C c.1157A>G p.E386G Missense 16/16 - 2
19-39369809-C-A c.1156G>T p.E386* Nonsense 16/16 - 1
19-39369813-C-A c.1152G>T p.E384D Missense 16/16 - 1
19-39369815-C-T c.1150G>A p.E384K Missense 16/16 - 4
19-39369822-C-A c.1143G>T p.R381S Missense 16/16 - 1
19-39369822-C-G c.1143G>C p.R381S Missense 16/16 - 1
19-39369822-C-T c.1143G>A p.R381= Synonymous 16/16 - 4
19-39369824-T-G c.1141A>C p.R381= Synonymous 16/16 - 2
19-39369825-G-A c.1140C>T p.A380= Synonymous 16/16 - 1
19-39369830-C-T c.1135G>A p.E379K Missense 16/16 - 1
19-39369833-C-A c.1132G>T p.D378Y Missense 16/16 - 1
19-39369845-G-A c.1120C>T p.P374S Missense 16/16 - 1
19-39369846-C-T c.1119G>A p.P373= Synonymous 16/16 - 1
19-39369848-G-T c.1117C>A p.P373T Missense 16/16 - 1
19-39369852-C-A c.1113G>T p.K371N Missense 16/16 - 1
19-39369855-C-A c.1110G>T p.K370N Missense 16/16 - 1
19-39369861-G-A c.1104C>T p.S368= Synonymous 16/16 - 2
19-39369861-G-C c.1104C>G p.S368= Synonymous 16/16 - 2
19-39369861-GGA-CTC c.1102_1104delinsGAG p.S368E Missense 16/16 - 1
19-39369861-G-T c.1104C>A p.S368= Synonymous 16/16 - 2
19-39369862-G-A c.1103C>T p.S368F Missense 16/16 - 2
19-39369862-GA-TC c.1102_1103inv p.S368D Missense 16/16 - 2
19-39369866-C-T c.1099G>A p.A367T Missense 16/16 - 1
19-39369868-G-A c.1097C>T p.S366L Missense 16/16 - 1
19-39369869-A-T c.1096T>A p.S366T Missense 16/16 - 1
19-39369873-GCT-TCA c.1090_1092delinsTGA p.S364* Nonsense 16/16 - 1
19-39369877-G-A c.1088C>T p.P363L Missense 16/16 - 2
19-39369879-G-C c.1086C>G p.N362K Missense 16/16 - 1
19-39369879-G-T c.1086C>A p.N362K Missense 16/16 - 2
19-39369882-G-A c.1083C>T p.P361= Synonymous 16/16 - 1
19-39369891-C-A c.1074G>T p.A358= Synonymous 16/16 - 1
19-39369891-C-G c.1074G>C p.A358= Synonymous 16/16 - 1
19-39369891-C-T c.1074G>A p.A358= Synonymous 16/16 - 4
19-39369892-G-A c.1073C>T p.A358V Missense 16/16 - 6
19-39369894-CCC-GCT c.1069_1071delinsAGC p.G357S Missense 16/16 - 1
19-39369892-GC-G c.1072del p.A358Rfs*97 Frameshift 16/16 - 1
19-39369897-CGA-GTC c.1066_1068delinsGAC p.S356D Missense 16/16 - 1
19-39369897-C-T c.1068G>A p.S356= Synonymous 16/16 - 1
19-39369910-A-G c.1055T>C p.I352T Missense 16/16 - 2
19-39369917-C-T c.1048G>A p.A350T Missense 16/16 - 3
19-39369925-C-T c.1040G>A p.R347K Missense 16/16 - 1
19-39369925-CT-TA c.1039_1040delinsTA p.R347* Nonsense 16/16 - 1
19-39369928-C-G c.1037G>C p.R346P Missense 16/16 - 1
19-39369928-C-T c.1037G>A p.R346Q Missense 16/16 - 4
19-39369929-G-A c.1036C>T p.R346W Missense 16/16 - 7
19-39369936-G-A c.1029C>T p.D343= Synonymous 16/16 - 1
19-39369941-C-G c.1024G>C p.E342Q Missense 16/16 - 1
19-39369942-C-A c.1023G>T p.L341= Synonymous 16/16 - 1
19-39369942-C-G c.1023G>C p.L341= Synonymous 16/16 - 1
19-39369942-C-T c.1023G>A p.L341= Synonymous 16/16 - 1
19-39369944-G-A c.1021C>T p.L341= Synonymous 16/16 - 1
19-39369944-G-T c.1021C>A p.L341M Missense 16/16 - 2
19-39370077-C-A c.1011G>T p.W337C Missense 15/16 - 1
19-39370077-C-G c.1011G>C p.W337C Missense 15/16 - 1
19-39370087-A-G c.1001T>C p.L334P Missense 15/16 - 1
19-39370089-C-T c.999G>A p.E333= Synonymous 15/16 - 1
19-39370091-C-G c.997G>C p.E333Q Missense 15/16 - 1
19-39370097-G-C c.991C>G p.L331V Missense 15/16 - 1
19-39370100-C-T c.988G>A p.A330T Missense 15/16 - 1
19-39370103-G-C c.985C>G p.L329V Missense 15/16 - 1
19-39370112-G-A c.976C>T p.Q326* Nonsense 15/16 - 1
19-39370125-C-T c.963G>A p.L321= Synonymous 15/16 - 1
19-39370137-G-A c.951C>T p.D317= Synonymous 15/16 - 1
19-39370138-T-A c.950A>T p.D317V Missense 15/16 - 1
19-39370217-G-A c.947+55C>T - IntronicSNV - 14/15 3
19-39370217-G-C c.947+55C>G - IntronicSNV - 14/15 5
19-39370217-G-T c.947+55C>A - IntronicSNV - 14/15 3
19-39370226-T-A c.947+46A>T - IntronicSNV - 14/15 1
19-39370232-T-A c.947+40A>T - IntronicSNV - 14/15 1
19-39370284-T-C c.935A>G p.K312R Missense 14/16 - 1
19-39370285-T-G c.934A>C p.K312Q Missense 14/16 - 1
19-39370287-G-A c.932C>T p.S311F Missense 14/16 - 1
19-39370298-C-T c.921G>A p.M307I Missense 14/16 - 1
19-39370306-C-G c.913G>C p.G305R Missense 14/16 - 1
19-39370306-C-T c.913G>A p.G305R Missense 14/16 - 1
19-39370308-C-T c.911G>A p.G304E Missense 14/16 - 1
19-39370309-C-T c.910G>A p.G304R Missense 14/16 - 1
19-39370313-G-A c.906C>T p.G302= Synonymous 14/16 - 2
19-39370313-G-C c.906C>G p.G302= Synonymous 14/16 - 1
19-39370313-G-T c.906C>A p.G302= Synonymous 14/16 - 1
19-39370316-C-A c.903G>T p.M301I Missense 14/16 - 1
19-39370317-CA-C c.902del p.M301Rfs*52 Frameshift 14/16 - 2
19-39370322-C-A c.897G>T p.M299I Missense 14/16 - 1
19-39370325-C-A c.894G>T p.G298= Synonymous 14/16 - 1
19-39370325-C-G c.894G>C p.G298= Synonymous 14/16 - 1
19-39370325-C-T c.894G>A p.G298= Synonymous 14/16 - 1
19-39370326-C-T c.893G>A p.G298E Missense 14/16 - 1
19-39370331-G-C c.888C>G p.F296L Missense 14/16 - 1
19-39370335-G-A c.884C>T p.P295L Missense 14/16 - 1
19-39370336-G-A c.883C>T p.P295S Missense 14/16 - 1
19-39370338-T-G c.881A>C p.D294A Missense 14/16 - 1
19-39370339-C-T c.880G>A p.D294N Missense 14/16 - 1
19-39370340-CG-AA c.878_879delinsTT p.S293F Missense 14/16 - 2
19-39370340-C-T c.879G>A p.S293= Synonymous 14/16 - 1
19-39370342-A-C c.877T>G p.S293A Missense 14/16 - 2
19-39370456-T-G c.877-114A>C - IntronicSNV - 13/15 1
19-39371170-GA-G c.876+155del - IntronicDeletion - 13/15 1
19-39371329-C-T c.872G>A p.G291D Missense 13/16 - 1
19-39371333-C-G c.868G>C p.A290P Missense 13/16 - 1
19-39371337-C-G c.864G>C p.E288D Missense 13/16 - 1
19-39371339-C-A c.862G>T p.E288* Nonsense 13/16 - 1
19-39371340-C-A c.861G>T p.K287N Missense 13/16 - 1
19-39371340-C-G c.861G>C p.K287N Missense 13/16 - 2
19-39371341-CTTGTTG-C c.855_860del p.I285_K287delinsM MultiAAMissense 13/16 - 1
19-39371356-C-A c.845G>T p.R282L Missense 13/16 - 2
19-39371356-C-G c.845G>C p.R282P Missense 13/16 - 1
19-39371356-C-T c.845G>A p.R282H Missense 13/16 - 1
19-39371357-G-A c.844C>T p.R282C Missense 13/16 - 2
19-39371364-G-A c.837C>T p.S279= Synonymous 13/16 - 1
19-39371365-G-A c.836C>T p.S279F Missense 13/16 - 2
19-39371369-G-A c.832C>T p.L278F Missense 13/16 - 4
19-39371373-T-A c.828A>T p.A276= Synonymous 13/16 - 1
19-39371373-T-C c.828A>G p.A276= Synonymous 13/16 - 1
19-39371373-T-G c.828A>C p.A276= Synonymous 13/16 - 1
19-39371376-C-A c.825G>T p.K275N Missense 13/16 - 1
19-39371464-C-T c.821G>A p.S274N Missense 12/16 - 1
19-39371469-G-A c.816C>T p.L272= Synonymous 12/16 - 3
19-39371470-A-T c.815T>A p.L272H Missense 12/16 - 1
19-39371482-G-A c.803C>T p.P268L Missense 12/16 - 5
19-39371486-G-A c.799C>T p.Q267* Nonsense 12/16 - 1
19-39371500-G-A c.785C>T p.T262I Missense 12/16 - 1
19-39371503-C-T c.782G>A p.G261D Missense 12/16 - 1
19-39371505-C-A c.780G>T p.M260I Missense 12/16 - 1
19-39371505-C-G c.780G>C p.M260I Missense 12/16 - 1
19-39371505-C-T c.780G>A p.M260I Missense 12/16 - 1
19-39371506-A-G c.779T>C p.M260T Missense 12/16 - 1
19-39371511-CAG-AAA c.772_774delinsTTT p.L258F Missense 12/16 - 2
19-39371517-GA-TT c.767_768delinsAA p.L256Q Missense 12/16 - 1
19-39371529-C-A c.756G>T p.L252= Synonymous 12/16 - 4
19-39371529-C-G c.756G>C p.L252= Synonymous 12/16 - 4
19-39371529-C-T c.756G>A p.L252= Synonymous 12/16 - 6
19-39371531-G-A c.754C>T p.L252= Synonymous 12/16 - 4
19-39371532-G-A c.753C>T p.F251= Synonymous 12/16 - 2
19-39371536-T-C c.749A>G p.D250G Missense 12/16 - 1
19-39371537-TCCTGCGGGGAGGGGCGTGAGCTTGGGAGCCTCCGCCCAGGCTGCGCCACCGCTCCCTCC-T c.748-58_748del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 12/16 11/15 1
19-39371702-G-A c.747+38C>T - IntronicSNV - 11/15 1
19-39371702-G-T c.747+38C>A - IntronicSNV - 11/15 1
19-39371716-C-T c.747+24G>A - IntronicSNV - 11/15 1
19-39371749-A-G c.738T>C p.C246= Synonymous 11/16 - 2
19-39371762-C-T c.725G>A p.R242H Missense 11/16 - 1
19-39371764-C-T c.723G>A p.A241= Synonymous 11/16 - 1
19-39371765-G-A c.722C>T p.A241V Missense 11/16 - 2
19-39371769-G-A c.718C>T p.P240S Missense 11/16 - 1
19-39371769-G-T c.718C>A p.P240T Missense 11/16 - 1
19-39371770-GAG-CAT c.715_717delinsATG p.L239M Missense 11/16 - 1
19-39371772-G-T c.715C>A p.L239I Missense 11/16 - 2
19-39371773-G-A c.714C>T p.S238= Synonymous 11/16 - 1
19-39371774-CT-GC c.712_713delinsGC p.S238A Missense 11/16 - 1
19-39371780-C-T c.707G>A p.G236D Missense 11/16 - 1
19-39371782-A-C c.705T>G p.F235L Missense 11/16 - 2
19-39371782-A-T c.705T>A p.F235L Missense 11/16 - 1
19-39371784-A-G c.703T>C p.F235L Missense 11/16 - 1
19-39371781-C-CA c.705dup p.G236Wfs*2 Frameshift 11/16 - 2
19-39371790-C-T c.697G>A p.V233I Missense 11/16 - 7
19-39371791-G-A c.696C>T p.I232= Synonymous 11/16 - 5
19-39371791-G-T c.696C>A p.I232= Synonymous 11/16 - 1
19-39371883-A-G c.692-88T>C - IntronicSNV - 10/15 2
19-39372081-C-A c.682G>T p.V228L Missense 10/16 - 1
19-39372081-C-G c.682G>C p.V228L Missense 10/16 - 1
19-39372081-C-T c.682G>A p.V228M Missense 10/16 - 1
19-39372092-C-G c.671G>C p.C224S Missense 10/16 - 1
19-39372093-A-T c.670T>A p.C224S Missense 10/16 - 1
19-39372094-GTC-CTT c.667_669delinsAAG p.D223K Missense 10/16 - 1
19-39372095-T-C c.668A>G p.D223G Missense 10/16 - 1
19-39372099-C-G c.664G>C p.E222Q Missense 10/16 - 1
19-39372100-A-AC c.662dup p.C221Wfs*2 Frameshift 10/16 - 1
19-39372101-C-T c.662G>A p.C221Y Missense 10/16 - 1
19-39372101-C-G c.662G>C p.C221S Missense 10/16 - 1
19-39372102-A-T c.661T>A p.C221S Missense 10/16 - 1
19-39372103-C-A c.660G>T p.K220N Missense 10/16 - 4
19-39372103-C-G c.660G>C p.K220N Missense 10/16 - 2
19-39372104-TT-GC c.658_659delinsGC p.K220A Missense 10/16 - 1
19-39372106-G-A c.657C>T p.P219= Synonymous 10/16 - 1
19-39372106-G-C c.657C>G p.P219= Synonymous 10/16 - 1
19-39372106-G-T c.657C>A p.P219= Synonymous 10/16 - 1
19-39372107-G-A c.656C>T p.P219L Missense 10/16 - 4
19-39372109-C-T c.654G>A p.T218= Synonymous 10/16 - 1
19-39372110-G-A c.653C>T p.T218M Missense 10/16 - 2
19-39372119-GA-AG c.643_644delinsCT p.S215L Missense 10/16 - 1
19-39372124-G-C c.639C>G p.I213M Missense 10/16 - 1
19-39372127-C-A c.636G>T p.K212N Missense 10/16 - 1
19-39372244-C-G c.632-113G>C - IntronicSNV - 9/15 10
19-39374172-A-T c.631+95T>A - IntronicSNV - 9/15 1
19-39374274-C-T c.624G>A p.W208* Nonsense 9/16 - 1
19-39374276-A-T c.622T>A p.W208R Missense 9/16 - 1
19-39374285-G-A c.613C>T p.P205S Missense 9/16 - 2
19-39374290-T-C c.608A>G p.E203G Missense 9/16 - 4
19-39374291-C-T c.607G>A p.E203K Missense 9/16 - 3
19-39374295-C-T c.603G>A p.R201= Synonymous 9/16 - 1
19-39374297-G-A c.601C>T p.R201W Missense 9/16 - 4
19-39374299-C-T c.599G>A p.C200Y Missense 9/16 - 1
19-39374306-C-T c.592G>A p.A198T Missense 9/16 - 1
19-39374307-G-A c.591C>T p.S197= Synonymous 9/16 - 1
19-39374312-C-T c.586G>A p.V196I Missense 9/16 - 11
19-39374313-G-A c.585C>T p.C195= Synonymous 9/16 - 3
19-39374315-A-C c.583T>G p.C195G Missense 9/16 - 1
19-39374315-A-G c.583T>C p.C195R Missense 9/16 - 1
19-39374320-G-A c.578C>T p.S193L Missense 9/16 - 1
19-39374326-TAGA-T c.569_571del p.F190del InFrameDeletion 9/16 - 1
19-39374330-A-C c.568T>G p.F190V Missense 9/16 - 2
19-39374336-C-T c.562G>A p.G188S Missense 9/16 - 5
19-39374338-TG-GC c.559_560delinsGC p.H187A Missense 9/16 - 4
19-39374339-G-A c.559C>T p.H187Y Missense 9/16 - 38
19-39374341-G-A c.557C>T p.A186V Missense 9/16 - 4
19-39374345-C-T c.553G>A p.E185K Missense 9/16 - 2
19-39374348-C-T c.550G>A p.V184M Missense 9/16 - 2
19-39374354-C-A c.544G>T p.D182Y Missense 9/16 - 1
19-39374354-C-G c.544G>C p.D182H Missense 9/16 - 1
19-39374354-C-T c.544G>A p.D182N Missense 9/16 - 1
19-39374357-C-A c.541G>T p.E181* Nonsense 9/16 - 2
19-39374357-C-G c.541G>C p.E181Q Missense 9/16 - 1
19-39374359-T-C c.539A>G p.Q180R Missense 9/16 - 1
19-39374363-C-G c.535G>C p.E179Q Missense 9/16 - 1
19-39374363-C-T c.535G>A p.E179K Missense 9/16 - 3
19-39374366-G-C c.532C>G p.L178V Missense 9/16 - 1
19-39374367-C-A c.531G>T p.G177= Synonymous 9/16 - 1
19-39374367-C-G c.531G>C p.G177= Synonymous 9/16 - 1
19-39374367-C-T c.531G>A p.G177= Synonymous 9/16 - 1
19-39374369-C-A c.529G>T p.G177W Missense 9/16 - 5
19-39374372-C-A c.526G>T p.A176S Missense 9/16 - 1
19-39374377-C-T c.521G>A p.R174Q Missense 9/16 - 1
19-39374381-C-T c.517G>A p.E173K Missense 9/16 - 1
19-39374384-G-T c.514C>A p.L172M Missense 9/16 - 2
19-39374386-G-A c.512C>T p.T171I Missense 9/16 - 1
19-39374395-TT-GC c.502_503delinsGC p.N168A Missense 9/16 - 6
19-39376684-CT-C c.502-2288del - IntronicDeletion - 8/15 1
19-39378213-C-T c.501+1514G>A - IntronicSNV - 8/15 1
19-39378875-ACCATCATAGCTCACTGCAGTCTTGACTTCCTGAACTCAAGCAATCCCCCTACCTCAGCC-A c.501+794_501+852del - IntronicDeletion - 8/15 1
19-39379709-A-G c.501+18T>C - IntronicSNV - 8/15 1
19-39379728-TG-GC c.499_500delinsGC p.Q167A Missense 8/16 - 1
19-39379730-C-A c.498G>T p.T166= Synonymous 8/16 - 5
19-39379730-C-G c.498G>C p.T166= Synonymous 8/16 - 3
19-39379730-C-T c.498G>A p.T166= Synonymous 8/16 - 4
19-39379731-G-A c.497C>T p.T166M Missense 8/16 - 2
19-39379731-G-C c.497C>G p.T166R Missense 8/16 - 1
19-39379740-C-T c.488G>A p.R163H Missense 8/16 - 2
19-39379741-G-A c.487C>T p.R163C Missense 8/16 - 2
19-39379756-T-G c.472A>C p.K158Q Missense 8/16 - 1
19-39379757-G-C c.471C>G p.D157E Missense 8/16 - 1
19-39379757-G-T c.471C>A p.D157E Missense 8/16 - 1
19-39379759-C-T c.469G>A p.D157N Missense 8/16 - 4
19-39379763-C-A c.465G>T p.L155= Synonymous 8/16 - 1
19-39379763-C-G c.465G>C p.L155= Synonymous 8/16 - 1
19-39379763-C-T c.465G>A p.L155= Synonymous 8/16 - 1
19-39379765-G-A c.463C>T p.L155= Synonymous 8/16 - 1
19-39379770-C-A c.458G>T p.R153L Missense 8/16 - 2
19-39379770-C-T c.458G>A p.R153H Missense 8/16 - 8
19-39379771-G-A c.457C>T p.R153C Missense 8/16 - 3
19-39379775-G-A c.453C>T p.F151= Synonymous 8/16 - 3
19-39379776-A-G c.452T>C p.F151S Missense 8/16 - 1
19-39379787-G-A c.441C>T p.I147= Synonymous 8/16 - 1
19-39379787-G-T c.441C>A p.I147= Synonymous 8/16 - 1
19-39379789-T-C c.439A>G p.I147V Missense 8/16 - 1
19-39379790-GGT-TTA c.436_438delinsTAA p.T146* Nonsense 8/16 - 1
19-39379855-G-A c.433-60C>T - IntronicSNV - 7/15 5
19-39379905-C-T c.433-110G>A - IntronicSNV - 7/15 1
19-39379906-G-A c.433-111C>T - IntronicSNV - 7/15 4
19-39379953-A-G c.433-158T>C - IntronicSNV - 7/15 1
19-39380030-C-G c.433-235G>C - IntronicSNV - 7/15 6
19-39380030-C-T c.433-235G>A - IntronicSNV - 7/15 6
19-39380031-A-G c.433-236T>C - IntronicSNV - 7/15 7
19-39380157-A-G c.432+172T>C - IntronicSNV - 7/15 1
19-39380189-C-G c.432+140G>C - IntronicSNV - 7/15 1
19-39380241-T-C c.432+88A>G - IntronicSNV - 7/15 1
19-39380332-G-T c.429C>A p.F143L Missense 7/16 - 2
19-39380340-C-G c.421G>C p.G141R Missense 7/16 - 1
19-39380340-C-T c.421G>A p.G141R Missense 7/16 - 1
19-39380342-G-T c.419C>A p.P140H Missense 7/16 - 2
19-39380345-TA-CC c.415_416delinsGG p.Y139G Missense 7/16 - 1
19-39380352-C-G c.409G>C p.E137Q Missense 7/16 - 1
19-39380352-C-T c.409G>A p.E137K Missense 7/16 - 2
19-39380361-G-T c.400C>A p.L134I Missense 7/16 - 2
19-39380364-C-T c.397G>A p.A133T Missense 7/16 - 1
19-39380365-G-A c.396C>T p.F132= Synonymous 7/16 - 3
19-39380368-G-A c.393C>T p.F131= Synonymous 7/16 - 1
19-39380372-G-A c.389C>T p.P130L Missense 7/16 - 1
19-39380377-C-T c.384G>A p.P128= Synonymous 7/16 - 1
19-39380378-G-A c.383C>T p.P128L Missense 7/16 - 6
19-39380384-T-C c.377A>G p.K126R Missense 7/16 - 2
19-39380385-T-G c.376A>C p.K126Q Missense 7/16 - 1
19-39380470-C-T c.375+25G>A - IntronicSNV - 6/15 1
19-39380498-G-C c.372C>G p.F124L Missense 6/16 - 1
19-39380498-G-T c.372C>A p.F124L Missense 6/16 - 1
19-39380500-A-G c.370T>C p.F124L Missense 6/16 - 1
19-39380513-A-G c.357T>C p.F119= Synonymous 6/16 - 1
19-39380514-AA-GC c.355_356delinsGC p.F119A Missense 6/16 - 1
19-39380520-G-A c.350C>T p.A117V Missense 6/16 - 1
19-39380520-GC-G c.349del p.A117Pfs*39 Frameshift 6/16 - 1
19-39380522-C-T c.348G>A p.E116= Synonymous 6/16 - 1
19-39380524-C-T c.346G>A p.E116K Missense 6/16 - 1
19-39380526-G-A c.344C>T p.P115L Missense 6/16 - 2
19-39380530-A-G c.340T>C p.Y114H Missense 6/16 - 1
19-39380532-G-A c.338C>T p.P113L Missense 6/16 - 2
19-39380536-G-T c.334C>A p.L112I Missense 6/16 - 1
19-39380546-C-T c.324G>A p.E108= Synonymous 6/16 - 1
19-39380548-C-A c.322G>T p.E108* Nonsense 6/16 - 1
19-39380548-C-T c.322G>A p.E108K Missense 6/16 - 1
19-39380552-G-A c.318C>T p.N106= Synonymous 6/16 - 1
19-39380566-C-T c.304G>A p.G102S Missense 6/16 - 1
19-39380569-T-A c.301A>T p.T101S Missense 6/16 - 1
19-39380570-G-A c.300C>T p.S100= Synonymous 6/16 - 1
19-39380572-A-C c.298T>G p.S100A Missense 6/16 - 1
19-39380572-A-G c.298T>C p.S100P Missense 6/16 - 2
19-39380574-G-A c.296C>T p.P99L Missense 6/16 - 2
19-39380575-G-A c.295C>T p.P99S Missense 6/16 - 1
19-39380583-AA-TC c.286_287delinsGA p.F96D Missense 6/16 - 1
19-39380587-C-T c.283G>A p.D95N Missense 6/16 - 1
19-39380588-G-A c.282C>T p.P94= Synonymous 6/16 - 2
19-39380588-G-GA c.281_282insT p.D95Rfs*11 Frameshift 6/16 - 1
19-39380591-G-A c.279C>T p.I93= Synonymous 6/16 - 1
19-39380593-T-G c.277A>C p.I93L Missense 6/16 - 1
19-39380597-TG-GT c.272_273delinsAC p.A91D Missense 6/16 - 1
19-39380599-C-T c.271G>A p.A91T Missense 6/16 - 1
19-39380601-G-A c.269C>T p.S90F Missense 6/16 - 1
19-39380748-G-A c.263C>T p.S88F Missense 5/16 - 1
19-39380750-GAT-TTA c.259_261delinsTAA p.I87* Nonsense 5/16 - 1
19-39380753-TCC-ACA c.256_258delinsTGT p.G86C Missense 5/16 - 1
19-39380754-C-G c.257G>C p.G86A Missense 5/16 - 2
19-39380755-C-G c.256G>C p.G86R Missense 5/16 - 1
19-39380755-C-T c.256G>A p.G86R Missense 5/16 - 1
19-39380756-A-C c.255T>G p.A85= Synonymous 5/16 - 1
19-39380756-A-G c.255T>C p.A85= Synonymous 5/16 - 1
19-39380756-A-T c.255T>A p.A85= Synonymous 5/16 - 1
19-39380758-C-T c.253G>A p.A85T Missense 5/16 - 2
19-39380764-C-T c.247G>A p.V83M Missense 5/16 - 1
19-39380770-A-G c.241T>C p.C81R Missense 5/16 - 3
19-39380777-T-C c.234A>G p.R78= Synonymous 5/16 - 3
19-39380780-GCG-CCA c.229_231delinsTGG p.R77W Missense 5/16 - 1
19-39380781-C-T c.230G>A p.R77H Missense 5/16 - 2
19-39380782-G-A c.229C>T p.R77C Missense 5/16 - 1
19-39380783-A-G c.228T>C p.C76= Synonymous 5/16 - 1
19-39380865-T-C c.227-81A>G - IntronicSNV - 4/15 1
19-39381338-G-A c.227-554C>T - IntronicSNV - 4/15 1
19-39383509-C-A c.226+545G>T - IntronicSNV - 4/15 2
19-39383509-C-T c.226+545G>A - IntronicSNV - 4/15 2
19-39384056-C-T c.224G>A p.R75H Missense 4/16 - 2
19-39384057-G-A c.223C>T p.R75C Missense 4/16 - 2
19-39384060-C-T c.220G>A p.E74K Missense 4/16 - 1
19-39384061-G-C c.219C>G p.S73R Missense 4/16 - 3
19-39384061-G-T c.219C>A p.S73R Missense 4/16 - 5
19-39384063-T-G c.217A>C p.S73R Missense 4/16 - 3
19-39384074-C-T c.206G>A p.R69Q Missense 4/16 - 1
19-39384077-G-A c.203C>T p.A68V Missense 4/16 - 4
19-39384087-C-T c.193G>A p.E65K Missense 4/16 - 1
19-39384092-G-A c.188C>T p.T63I Missense 4/16 - 1
19-39384097-C-T c.183G>A p.E61= Synonymous 4/16 - 2
19-39384099-C-T c.181G>A p.E61K Missense 4/16 - 1
19-39384100-GTC-CTT c.178_180delinsAAG p.D60K Missense 4/16 - 1
19-39384108-G-GA c.171dup p.L58Sfs*48 Frameshift 4/16 - 1
19-39384109-A-C c.171T>G p.R57= Synonymous 4/16 - 1
19-39384109-A-G c.171T>C p.R57= Synonymous 4/16 - 1
19-39384109-A-T c.171T>A p.R57= Synonymous 4/16 - 1
19-39384115-C-A c.165G>T p.K55N Missense 4/16 - 1
19-39384121-G-A c.159C>T p.S53= Synonymous 4/16 - 1
19-39384141-G-A c.139C>T p.Q47* Nonsense 4/16 - 1
19-39384148-T-A c.132A>T p.L44F Missense 4/16 - 8
19-39384148-T-G c.132A>C p.L44F Missense 4/16 - 3
19-39384149-AA-TC c.130_131delinsGA p.L44E Missense 4/16 - 1
19-39384150-A-C c.130T>G p.L44V Missense 4/16 - 1
19-39384151-G-A c.129C>T p.N43= Synonymous 4/16 - 2
19-39384154-C-A c.126G>T p.R42= Synonymous 4/16 - 2
19-39384155-C-A c.125G>T p.R42L Missense 4/16 - 1
19-39384155-C-G c.125G>C p.R42P Missense 4/16 - 5
19-39384156-G-A c.124C>T p.R42W Missense 4/16 - 1
19-39384160-G-A c.120C>T p.F40= Synonymous 4/16 - 2
19-39384160-G-C c.120C>G p.F40L Missense 4/16 - 1
19-39384337-C-T c.112+122G>A - IntronicSNV - 3/15 1
19-39384381-AGGTATCACCCACACCCCTGCCCTGAAATCCCCCCGCCCCCCAGAACCCTGCTCCCTGTC-A c.112+20_112+78del - SpliceDonorDeletion - 3/15 1
19-39384449-A-T c.112+10T>A - IntronicSNV - 3/15 1
19-39384457-A-C c.112+2T>G - IntronicSNV - 3/15 1
19-39384465-C-T c.106G>A p.A36T Missense 3/16 - 1
19-39384468-C-G c.103G>C p.E35Q Missense 3/16 - 1
19-39384471-C-A c.100G>T p.G34* Nonsense 3/16 - 1
19-39384477-C-G c.94G>C p.A32P Missense 3/16 - 2
19-39384477-C-T c.94G>A p.A32T Missense 3/16 - 7
19-39384478-GG-CT c.92_93delinsAG p.A31E Missense 3/16 - 1
19-39384479-G-A c.92C>T p.A31V Missense 3/16 - 3
19-39384485-C-A c.86G>T p.G29V Missense 3/16 - 2
19-39384486-C-T c.85G>A p.G29R Missense 3/16 - 1
19-39384492-A-C c.79T>G p.S27A Missense 3/16 - 2
19-39384497-GA-TC c.73_74inv p.S25E Missense 3/16 - 3
19-39384498-A-C c.73T>G p.S25A Missense 3/16 - 2
19-39384501-C-A c.70G>T p.D24Y Missense 3/16 - 2
19-39384502-T-A c.69A>T p.S23= Synonymous 3/16 - 1
19-39384502-T-C c.69A>G p.S23= Synonymous 3/16 - 1
19-39384502-T-G c.69A>C p.S23= Synonymous 3/16 - 1
19-39384506-TC-CG c.64_65delinsCG p.D22R Missense 3/16 - 1
19-39384507-C-T c.64G>A p.D22N Missense 3/16 - 1
19-39384742-G-T c.64-235C>A - IntronicSNV - 2/15 1
19-39384768-G-A c.64-261C>T - IntronicSNV - 2/15 1
19-39384769-C-T c.64-262G>A - IntronicSNV - 2/15 1
19-39384816-A-G c.64-309T>C - IntronicSNV - 2/15 1
19-39385298-C-T c.64-791G>A - IntronicSNV - 2/15 5
19-39385299-C-G c.64-792G>C - IntronicSNV - 2/15 3
19-39385299-C-T c.64-792G>A - IntronicSNV - 2/15 3
19-39385532-T-C c.64-1025A>G - IntronicSNV - 2/15 29
19-39385633-C-A c.64-1126G>T - IntronicSNV - 2/15 1
19-39385718-G-A c.64-1211C>T - IntronicSNV - 2/15 1
19-39385718-G-C c.64-1211C>G - IntronicSNV - 2/15 1
19-39387716-G-A c.63+1303C>T - IntronicSNV - 2/15 4
19-39387842-T-C c.63+1177A>G - IntronicSNV - 2/15 1
19-39387919-T-C c.63+1100A>G - IntronicSNV - 2/15 3
19-39388231-A-G c.63+788T>C - IntronicSNV - 2/15 2
19-39388231-A-T c.63+788T>A - IntronicSNV - 2/15 2
19-39389019-CTG-GTC c.61_63delinsGAC p.Q21D Missense 2/16 - 1
19-39389020-T-C c.62A>G p.Q21R Missense 2/16 - 1
19-39389021-G-A c.61C>T p.Q21* Nonsense 2/16 - 1
19-39389023-G-T c.59C>A p.A20D Missense 2/16 - 1
19-39389036-T-TA c.45_46insT p.K16* Nonsense 2/16 - 1
19-39389037-CC-GT c.44_45delinsAC p.G15D Missense 2/16 - 1
19-39389041-GC-TT c.40_41delinsAA p.A14K Missense 2/16 - 1
19-39389042-C-G c.40G>C p.A14P Missense 2/16 - 1
19-39389043-C-A c.39G>T p.Q13H Missense 2/16 - 1
19-39389043-C-G c.39G>C p.Q13H Missense 2/16 - 1
19-39389044-T-A c.38A>T p.Q13L Missense 2/16 - 1
19-39389047-G-A c.35C>T p.T12I Missense 2/16 - 1
19-39389052-C-A c.30G>T p.L10= Synonymous 2/16 - 1
19-39389052-C-G c.30G>C p.L10= Synonymous 2/16 - 1
19-39389052-C-T c.30G>A p.L10= Synonymous 2/16 - 1
19-39389054-G-A c.28C>T p.L10= Synonymous 2/16 - 1
19-39389057-G-T c.25C>A p.P9T Missense 2/16 - 1
19-39389060-G-GC c.21_22insG p.H8Afs*21 Frameshift 2/16 - 1
19-39389062-G-A c.20C>T p.S7F Missense 2/16 - 2
19-39389116-G-A c.17-51C>T - IntronicSNV - 1/15 1
19-39390147-G-A c.15C>T p.D5= Synonymous 1/16 - 1
19-39390154-T-C c.8A>G p.E3G Missense 1/16 - 1
19-39390156-T-A c.6A>T p.A2= Synonymous 1/16 - 1
19-39390156-T-C c.6A>G p.A2= Synonymous 1/16 - 1
19-39390156-T-G c.6A>C p.A2= Synonymous 1/16 - 1