ULK4

ULK4 unc-51 like kinase 4

Annotation transcript: NM_017886.4

1532 unique variant annotations were identified in 699 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
3-41288394-C-A c.*26G>T - 3-UTRSNV 37/37 - 1
3-41288394-C-T c.*26G>A - 3-UTRSNV 37/37 - 1
3-41288423-G-C c.3825C>G p.H1275Q Missense 37/37 - 1
3-41288430-A-C c.3818T>G p.V1273G Missense 37/37 - 1
3-41288431-C-T c.3817G>A p.V1273I Missense 37/37 - 1
3-41288432-G-A c.3816C>T p.A1272= Synonymous 37/37 - 1
3-41288433-G-A c.3815C>T p.A1272V Missense 37/37 - 1
3-41288435-T-C c.3813A>G p.Q1271= Synonymous 37/37 - 1
3-41288437-G-A c.3811C>T p.Q1271* Nonsense 37/37 - 1
3-41288446-C-T c.3802G>A p.E1268K Missense 37/37 - 3
3-41288460-G-A c.3788C>T p.A1263V Missense 37/37 - 1
3-41288461-C-A c.3787G>T p.A1263S Missense 37/37 - 1
3-41288464-C-T c.3784G>A p.V1262M Missense 37/37 - 1
3-41288466-G-A c.3782C>T p.A1261V Missense 37/37 - 9
3-41288468-A-G c.3780T>C p.S1260= Synonymous 37/37 - 1
3-41288469-C-T c.3779G>A p.S1260N Missense 37/37 - 3
3-41288472-T-C c.3776A>G p.D1259G Missense 37/37 - 2
3-41288474-G-A c.3774C>T p.A1258= Synonymous 37/37 - 1
3-41288474-G-C c.3774C>G p.A1258= Synonymous 37/37 - 1
3-41288474-G-T c.3774C>A p.A1258= Synonymous 37/37 - 1
3-41288627-C-T c.3765-144G>A - IntronicSNV - 36/36 2
3-41290998-C-T c.3746G>A p.R1249Q Missense 36/37 - 2
3-41291002-C-G c.3742G>C p.E1248Q Missense 36/37 - 1
3-41291002-C-T c.3742G>A p.E1248K Missense 36/37 - 2
3-41291010-C-T c.3734G>A p.R1245Q Missense 36/37 - 1
3-41291011-G-A c.3733C>T p.R1245W Missense 36/37 - 2
3-41291015-G-A c.3729C>T p.L1243= Synonymous 36/37 - 1
3-41291015-G-C c.3729C>G p.L1243= Synonymous 36/37 - 1
3-41291015-G-T c.3729C>A p.L1243= Synonymous 36/37 - 1
3-41291022-C-T c.3722G>A p.G1241D Missense 36/37 - 1
3-41291033-G-A c.3711C>T p.L1237= Synonymous 36/37 - 1
3-41291033-G-C c.3711C>G p.L1237= Synonymous 36/37 - 1
3-41291033-G-T c.3711C>A p.L1237= Synonymous 36/37 - 1
3-41291039-C-T c.3705G>A p.E1235= Synonymous 36/37 - 1
3-41291042-C-T c.3702G>A p.L1234= Synonymous 36/37 - 1
3-41291043-AA-GG c.3700_3701delinsCC p.L1234P Missense 36/37 - 1
3-41291053-C-G c.3691G>C p.E1231Q Missense 36/37 - 1
3-41291060-G-A c.3684C>T p.T1228= Synonymous 36/37 - 1
3-41291063-G-A c.3681C>T p.I1227= Synonymous 36/37 - 1
3-41291063-G-T c.3681C>A p.I1227= Synonymous 36/37 - 1
3-41291077-G-A c.3679-12C>T - IntronicSNV - 35/36 1
3-41291081-G-A c.3679-16C>T - IntronicSNV - 35/36 6
3-41291106-G-A c.3679-41C>T - IntronicSNV - 35/36 1
3-41291106-G-C c.3679-41C>G - IntronicSNV - 35/36 1
3-41292736-C-T c.3679-1671G>A - IntronicSNV - 35/36 1
3-41293707-T-A c.3679-2642A>T - IntronicSNV - 35/36 1
3-41295767-T-C c.3679-4702A>G - IntronicSNV - 35/36 3
3-41297523-G-A c.3679-6458C>T - IntronicSNV - 35/36 1
3-41297523-G-T c.3679-6458C>A - IntronicSNV - 35/36 1
3-41299516-G-A c.3679-8451C>T - IntronicSNV - 35/36 1
3-41301534-T-A c.3679-10469A>T - IntronicSNV - 35/36 1
3-41301534-T-G c.3679-10469A>C - IntronicSNV - 35/36 1
3-41303087-A-G c.3679-12022T>C - IntronicSNV - 35/36 1
3-41308348-T-C c.3679-17283A>G - IntronicSNV - 35/36 1
3-41310470-G-A c.3679-19405C>T - IntronicSNV - 35/36 2
3-41311362-G-C c.3679-20297C>G - IntronicSNV - 35/36 2
3-41311387-G-A c.3679-20322C>T - IntronicSNV - 35/36 1
3-41312055-G-A c.3679-20990C>T - IntronicSNV - 35/36 1
3-41312901-G-T c.3679-21836C>A - IntronicSNV - 35/36 1
3-41318158-C-G c.3679-27093G>C - IntronicSNV - 35/36 1
3-41318158-C-T c.3679-27093G>A - IntronicSNV - 35/36 1
3-41328182-C-T c.3679-37117G>A - IntronicSNV - 35/36 1
3-41329633-T-A c.3679-38568A>T - IntronicSNV - 35/36 1
3-41329633-T-C c.3679-38568A>G - IntronicSNV - 35/36 1
3-41332490-T-C c.3679-41425A>G - IntronicSNV - 35/36 2
3-41332949-A-AGAGGAGGGGAGG c.3679-41885_3679-41884insCCTCCCCTCCTC - IntronicInsertion - 35/36 1
3-41334787-T-G c.3679-43722A>C - IntronicSNV - 35/36 1
3-41336053-C-A c.3679-44988G>T - IntronicSNV - 35/36 1
3-41336053-C-T c.3679-44988G>A - IntronicSNV - 35/36 1
3-41337338-C-A c.3679-46273G>T - IntronicSNV - 35/36 1
3-41337338-C-T c.3679-46273G>A - IntronicSNV - 35/36 1
3-41340824-A-G c.3679-49759T>C - IntronicSNV - 35/36 1
3-41343854-T-G c.3679-52789A>C - IntronicSNV - 35/36 1
3-41345172-C-T c.3679-54107G>A - IntronicSNV - 35/36 1
3-41346608-G-A c.3679-55543C>T - IntronicSNV - 35/36 1
3-41346696-T-C c.3679-55631A>G - IntronicSNV - 35/36 1
3-41346699-C-CTT c.3679-55635_3679-55634insAA - IntronicInsertion - 35/36 1
3-41347866-T-C c.3679-56801A>G - IntronicSNV - 35/36 1
3-41359534-A-G c.3679-68469T>C - IntronicSNV - 35/36 1
3-41368428-C-T c.3678+71142G>A - IntronicSNV - 35/36 1
3-41371414-C-T c.3678+68156G>A - IntronicSNV - 35/36 1
3-41372090-C-G c.3678+67480G>C - IntronicSNV - 35/36 1
3-41372090-C-T c.3678+67480G>A - IntronicSNV - 35/36 1
3-41373143-CT-C c.3678+66426del - IntronicDeletion - 35/36 1
3-41373224-G-A c.3678+66346C>T - IntronicSNV - 35/36 1
3-41374373-C-T c.3678+65197G>A - IntronicSNV - 35/36 1
3-41374498-G-T c.3678+65072C>A - IntronicSNV - 35/36 1
3-41374621-T-C c.3678+64949A>G - IntronicSNV - 35/36 1
3-41375107-T-A c.3678+64463A>T - IntronicSNV - 35/36 1
3-41375667-G-A c.3678+63903C>T - IntronicSNV - 35/36 1
3-41375994-A-T c.3678+63576T>A - IntronicSNV - 35/36 1
3-41377373-A-G c.3678+62197T>C - IntronicSNV - 35/36 1
3-41377659-A-G c.3678+61911T>C - IntronicSNV - 35/36 1
3-41377676-T-G c.3678+61894A>C - IntronicSNV - 35/36 1
3-41378012-A-C c.3678+61558T>G - IntronicSNV - 35/36 1
3-41378621-T-C c.3678+60949A>G - IntronicSNV - 35/36 1
3-41379517-T-C c.3678+60053A>G - IntronicSNV - 35/36 1
3-41388562-GA-G c.3678+51007del - IntronicDeletion - 35/36 1
3-41396865-A-G c.3678+42705T>C - IntronicSNV - 35/36 1
3-41397041-C-T c.3678+42529G>A - IntronicSNV - 35/36 2
3-41402514-G-A c.3678+37056C>T - IntronicSNV - 35/36 1
3-41405421-C-T c.3678+34149G>A - IntronicSNV - 35/36 1
3-41405423-C-T c.3678+34147G>A - IntronicSNV - 35/36 1
3-41416756-G-C c.3678+22814C>G - IntronicSNV - 35/36 1
3-41419653-G-A c.3678+19917C>T - IntronicSNV - 35/36 1
3-41423118-A-G c.3678+16452T>C - IntronicSNV - 35/36 1
3-41424171-A-G c.3678+15399T>C - IntronicSNV - 35/36 1
3-41437495-C-A c.3678+2075G>T - IntronicSNV - 35/36 1
3-41438117-G-A c.3678+1453C>T - IntronicSNV - 35/36 1
3-41438288-C-A c.3678+1282G>T - IntronicSNV - 35/36 1
3-41438288-C-T c.3678+1282G>A - IntronicSNV - 35/36 1
3-41439570-C-G c.3678G>C p.M1226I Missense 35/37 - 1
3-41439577-C-T c.3671G>A p.R1224K Missense 35/37 - 1
3-41439581-G-A c.3667C>T p.L1223F Missense 35/37 - 1
3-41439589-AA-GG c.3658_3659delinsCC p.L1220P Missense 35/37 - 1
3-41439589-A-C c.3659T>G p.L1220* Nonsense 35/37 - 1
3-41439589-A-T c.3659T>A p.L1220* Nonsense 35/37 - 1
3-41439591-C-A c.3657G>T p.L1219= Synonymous 35/37 - 1
3-41439591-C-G c.3657G>C p.L1219= Synonymous 35/37 - 1
3-41439591-C-T c.3657G>A p.L1219= Synonymous 35/37 - 1
3-41439593-G-A c.3655C>T p.L1219= Synonymous 35/37 - 4
3-41439605-C-A c.3643G>T p.E1215* Nonsense 35/37 - 1
3-41439605-C-T c.3643G>A p.E1215K Missense 35/37 - 2
3-41439606-C-A c.3642G>T p.K1214N Missense 35/37 - 1
3-41439606-C-G c.3642G>C p.K1214N Missense 35/37 - 1
3-41439607-T-A c.3641A>T p.K1214M Missense 35/37 - 3
3-41439612-G-A c.3636C>T p.D1212= Synonymous 35/37 - 2
3-41439615-C-A c.3633G>T p.E1211D Missense 35/37 - 4
3-41439615-C-G c.3633G>C p.E1211D Missense 35/37 - 2
3-41439617-C-T c.3631G>A p.E1211K Missense 35/37 - 1
3-41439618-C-T c.3630G>A p.K1210= Synonymous 35/37 - 1
3-41439622-GA-CG c.3625_3626delinsCG p.S1209R Missense 35/37 - 1
3-41439623-A-C c.3625T>G p.S1209A Missense 35/37 - 1
3-41439628-A-G c.3620T>C p.L1207P Missense 35/37 - 1
3-41439630-T-A c.3618A>T p.L1206F Missense 35/37 - 1
3-41439630-TAA-CAT c.3616_3618delinsATG p.L1206M Missense 35/37 - 1
3-41439635-G-T c.3613C>A p.H1205N Missense 35/37 - 3
3-41439647-C-T c.3601G>A p.E1201K Missense 35/37 - 2
3-41439656-C-T c.3592G>A p.E1198K Missense 35/37 - 1
3-41439658-G-A c.3590C>T p.P1197L Missense 35/37 - 1
3-41439661-G-A c.3587C>T p.S1196F Missense 35/37 - 1
3-41439672-C-A c.3576G>T p.P1192= Synonymous 35/37 - 1
3-41439672-C-G c.3576G>C p.P1192= Synonymous 35/37 - 1
3-41439672-C-T c.3576G>A p.P1192= Synonymous 35/37 - 1
3-41439676-T-G c.3572A>C p.N1191T Missense 35/37 - 1
3-41439679-T-C c.3569A>G p.E1190G Missense 35/37 - 2
3-41439681-C-T c.3567G>A p.G1189= Synonymous 35/37 - 2
3-41439682-C-A c.3566G>T p.G1189V Missense 35/37 - 2
3-41439685-TCC-T c.3562_3563del p.G1188Rfs*10 Frameshift 35/37 - 1
3-41439686-C-G c.3562G>C p.G1188R Missense 35/37 - 1
3-41439686-C-T c.3562G>A p.G1188R Missense 35/37 - 3
3-41439704-T-C c.3544A>G p.I1182V Missense 35/37 - 3
3-41439706-GA-AT c.3541_3542delinsAT p.S1181I Missense 35/37 - 1
3-41439708-C-A c.3540G>T p.L1180= Synonymous 35/37 - 1
3-41439708-C-G c.3540G>C p.L1180= Synonymous 35/37 - 1
3-41439708-C-T c.3540G>A p.L1180= Synonymous 35/37 - 1
3-41439710-G-A c.3538C>T p.L1180= Synonymous 35/37 - 1
3-41439709-A-T c.3539T>A p.L1180Q Missense 35/37 - 1
3-41439712-CA-GT c.3535_3536delinsAC p.C1179T Missense 35/37 - 1
3-41439720-T-A c.3528A>T p.S1176= Synonymous 35/37 - 2
3-41439720-T-C c.3528A>G p.S1176= Synonymous 35/37 - 2
3-41439720-T-G c.3528A>C p.S1176= Synonymous 35/37 - 2
3-41439721-G-A c.3527C>T p.S1176L Missense 35/37 - 1
3-41439730-A-G c.3518T>C p.F1173S Missense 35/37 - 1
3-41439739-G-T c.3509C>A p.P1170H Missense 35/37 - 1
3-41439743-C-G c.3505G>C p.D1169H Missense 35/37 - 1
3-41439753-A-C c.3495T>G p.L1165= Synonymous 35/37 - 1
3-41439753-A-G c.3495T>C p.L1165= Synonymous 35/37 - 1
3-41439753-A-T c.3495T>A p.L1165= Synonymous 35/37 - 1
3-41439790-T-C c.3493-35A>G - IntronicSNV - 34/36 2
3-41439810-C-A c.3493-55G>T - IntronicSNV - 34/36 1
3-41446626-T-C c.3493-6871A>G - IntronicSNV - 34/36 1
3-41446626-T-G c.3493-6871A>C - IntronicSNV - 34/36 1
3-41452180-T-C c.3493-12425A>G - IntronicSNV - 34/36 1
3-41455363-C-A c.3493-15608G>T - IntronicSNV - 34/36 1
3-41455363-C-G c.3493-15608G>C - IntronicSNV - 34/36 1
3-41458709-C-T c.3493-18954G>A - IntronicSNV - 34/36 1
3-41470634-GA-G c.3492+26353del - IntronicDeletion - 34/36 1
3-41471847-G-A c.3492+25141C>T - IntronicSNV - 34/36 2
3-41471847-G-C c.3492+25141C>G - IntronicSNV - 34/36 2
3-41480047-C-A c.3492+16941G>T - IntronicSNV - 34/36 1
3-41480682-A-G c.3492+16306T>C - IntronicSNV - 34/36 1
3-41480682-A-T c.3492+16306T>A - IntronicSNV - 34/36 1
3-41480879-G-A c.3492+16109C>T - IntronicSNV - 34/36 1
3-41485477-T-A c.3492+11511A>T - IntronicSNV - 34/36 1
3-41485477-T-C c.3492+11511A>G - IntronicSNV - 34/36 1
3-41488902-GT-G c.3492+8085del - IntronicDeletion - 34/36 1
3-41489374-G-A c.3492+7614C>T - IntronicSNV - 34/36 1
3-41489604-A-C c.3492+7384T>G - IntronicSNV - 34/36 2
3-41490064-G-T c.3492+6924C>A - IntronicSNV - 34/36 4
3-41490294-C-T c.3492+6694G>A - IntronicSNV - 34/36 2
3-41492630-C-T c.3492+4358G>A - IntronicSNV - 34/36 1
3-41493591-T-A c.3492+3397A>T - IntronicSNV - 34/36 1
3-41493591-T-C c.3492+3397A>G - IntronicSNV - 34/36 1
3-41494431-C-T c.3492+2557G>A - IntronicSNV - 34/36 1
3-41494605-T-A c.3492+2383A>T - IntronicSNV - 34/36 3
3-41494605-T-C c.3492+2383A>G - IntronicSNV - 34/36 3
3-41494618-C-T c.3492+2370G>A - IntronicSNV - 34/36 2
3-41496752-A-C c.3492+236T>G - IntronicSNV - 34/36 1
3-41496983-C-G c.3492+5G>C - IntronicSNV - 34/36 1
3-41496991-T-A c.3489A>T p.P1163= Synonymous 34/37 - 1
3-41496991-T-C c.3489A>G p.P1163= Synonymous 34/37 - 1
3-41496991-T-G c.3489A>C p.P1163= Synonymous 34/37 - 1
3-41496993-G-A c.3487C>T p.P1163S Missense 34/37 - 1
3-41497003-G-A c.3477C>T p.S1159= Synonymous 34/37 - 1
3-41497004-CT-GG c.3475_3476delinsCC p.S1159P Missense 34/37 - 1
3-41497016-G-A c.3464C>T p.T1155I Missense 34/37 - 3
3-41497016-G-T c.3464C>A p.T1155K Missense 34/37 - 1
3-41497018-CAG-GAT c.3460_3462delinsATC p.L1154I Missense 34/37 - 1
3-41497025-C-A c.3455G>T p.R1152I Missense 34/37 - 1
3-41497028-T-C c.3452A>G p.N1151S Missense 34/37 - 1
3-41497033-C-T c.3447G>A p.L1149= Synonymous 34/37 - 2
3-41497036-C-A c.3444G>T p.L1148= Synonymous 34/37 - 1
3-41497036-C-G c.3444G>C p.L1148= Synonymous 34/37 - 1
3-41497036-C-T c.3444G>A p.L1148= Synonymous 34/37 - 1
3-41497038-G-A c.3442C>T p.L1148= Synonymous 34/37 - 1
3-41497040-A-C c.3440T>G p.L1147R Missense 34/37 - 1
3-41497044-C-T c.3436G>A p.D1146N Missense 34/37 - 1
3-41497050-C-T c.3430G>A p.A1144T Missense 34/37 - 1
3-41497054-C-G c.3426G>C p.Q1142H Missense 34/37 - 1
3-41497055-T-C c.3425A>G p.Q1142R Missense 34/37 - 1
3-41497062-C-T c.3418G>A p.D1140N Missense 34/37 - 2
3-41497074-C-G c.3406G>C p.G1136R Missense 34/37 - 1
3-41497076-G-T c.3404C>A p.S1135Y Missense 34/37 - 1
3-41497079-T-C c.3401A>G p.K1134R Missense 34/37 - 1
3-41497079-T-G c.3401A>C p.K1134T Missense 34/37 - 2
3-41497081-C-A c.3399G>T p.Q1133H Missense 34/37 - 1
3-41497081-C-G c.3399G>C p.Q1133H Missense 34/37 - 1
3-41497081-C-T c.3399G>A p.Q1133= Synonymous 34/37 - 1
3-41497084-G-A c.3396C>T p.A1132= Synonymous 34/37 - 1
3-41497084-G-C c.3396C>G p.A1132= Synonymous 34/37 - 1
3-41497084-G-T c.3396C>A p.A1132= Synonymous 34/37 - 1
3-41497085-G-A c.3395C>T p.A1132V Missense 34/37 - 3
3-41497086-C-A c.3394G>T p.A1132S Missense 34/37 - 1
3-41497086-C-T c.3394G>A p.A1132T Missense 34/37 - 1
3-41497115-C-G c.3394-29G>C - IntronicSNV - 33/36 6
3-41497115-C-T c.3394-29G>A - IntronicSNV - 33/36 6
3-41497165-G-A c.3394-79C>T - IntronicSNV - 33/36 4
3-41497165-G-C c.3394-79C>G - IntronicSNV - 33/36 4
3-41501737-A-G c.3393+2841T>C - IntronicSNV - 33/36 1
3-41503312-A-G c.3393+1266T>C - IntronicSNV - 33/36 2
3-41504591-C-T c.3380G>A p.R1127Q Missense 33/37 - 1
3-41504594-A-G c.3377T>C p.V1126A Missense 33/37 - 4
3-41504601-C-T c.3370G>A p.G1124S Missense 33/37 - 2
3-41504602-G-A c.3369C>T p.S1123= Synonymous 33/37 - 1
3-41504603-G-C c.3368C>G p.S1123C Missense 33/37 - 5
3-41504603-G-T c.3368C>A p.S1123Y Missense 33/37 - 1
3-41504606-G-A c.3365C>T p.T1122I Missense 33/37 - 1
3-41504606-G-C c.3365C>G p.T1122S Missense 33/37 - 1
3-41504611-G-T c.3360C>A p.T1120= Synonymous 33/37 - 1
3-41504613-T-C c.3358A>G p.T1120A Missense 33/37 - 1
3-41504617-C-A c.3354G>T p.M1118I Missense 33/37 - 1
3-41504617-C-G c.3354G>C p.M1118I Missense 33/37 - 1
3-41504617-C-T c.3354G>A p.M1118I Missense 33/37 - 1
3-41504623-G-A c.3348C>T p.H1116= Synonymous 33/37 - 1
3-41504634-C-G c.3337G>C p.D1113H Missense 33/37 - 3
3-41504640-G-C c.3331C>G p.L1111V Missense 33/37 - 1
3-41504641-G-A c.3330C>T p.S1110= Synonymous 33/37 - 1
3-41504642-G-T c.3329C>A p.S1110Y Missense 33/37 - 1
3-41504649-G-A c.3322C>T p.L1108F Missense 33/37 - 2
3-41504650-GC-G c.3321del p.L1108Sfs*12 Frameshift 33/37 - 1
3-41504660-G-C c.3311C>G p.A1104G Missense 33/37 - 3
3-41504665-C-A c.3306G>T p.E1102D Missense 33/37 - 1
3-41504665-C-G c.3306G>C p.E1102D Missense 33/37 - 1
3-41504667-C-G c.3304G>C p.E1102Q Missense 33/37 - 1
3-41504679-T-C c.3292A>G p.K1098E Missense 33/37 - 2
3-41504685-C-T c.3286G>A p.D1096N Missense 33/37 - 1
3-41504691-C-T c.3280G>A p.D1094N Missense 33/37 - 1
3-41504697-A-G c.3274T>C p.C1092R Missense 33/37 - 1
3-41504706-C-T c.3265G>A p.A1089T Missense 33/37 - 2
3-41504709-T-C c.3262A>G p.T1088A Missense 33/37 - 1
3-41504712-C-T c.3259G>A p.E1087K Missense 33/37 - 1
3-41504718-G-C c.3253C>G p.L1085V Missense 33/37 - 1
3-41504728-G-A c.3243C>T p.I1081= Synonymous 33/37 - 1
3-41504728-G-T c.3243C>A p.I1081= Synonymous 33/37 - 1
3-41504734-A-G c.3237T>C p.S1079= Synonymous 33/37 - 1
3-41504735-C-T c.3236G>A p.S1079N Missense 33/37 - 2
3-41504742-G-A c.3229C>T p.L1077F Missense 33/37 - 1
3-41504866-A-G c.3227-122T>C - IntronicSNV - 32/36 3
3-41507452-C-G c.3227-2708G>C - IntronicSNV - 32/36 1
3-41507452-C-T c.3227-2708G>A - IntronicSNV - 32/36 1
3-41522811-C-A c.3227-18067G>T - IntronicSNV - 32/36 2
3-41522811-C-T c.3227-18067G>A - IntronicSNV - 32/36 2
3-41525357-G-C c.3227-20613C>G - IntronicSNV - 32/36 1
3-41525957-G-A c.3227-21213C>T - IntronicSNV - 32/36 1
3-41525957-G-T c.3227-21213C>A - IntronicSNV - 32/36 1
3-41526967-A-C c.3227-22223T>G - IntronicSNV - 32/36 1
3-41526967-A-G c.3227-22223T>C - IntronicSNV - 32/36 1
3-41527534-C-T c.3227-22790G>A - IntronicSNV - 32/36 1
3-41529173-C-A c.3227-24429G>T - IntronicSNV - 32/36 1
3-41529782-A-G c.3227-25038T>C - IntronicSNV - 32/36 1
3-41532040-T-C c.3227-27296A>G - IntronicSNV - 32/36 1
3-41532364-A-C c.3227-27620T>G - IntronicSNV - 32/36 1
3-41532550-T-C c.3227-27806A>G - IntronicSNV - 32/36 1
3-41533102-A-G c.3227-28358T>C - IntronicSNV - 32/36 1
3-41535351-C-T c.3227-30607G>A - IntronicSNV - 32/36 1
3-41541716-T-A c.3227-36972A>T - IntronicSNV - 32/36 1
3-41541716-T-G c.3227-36972A>C - IntronicSNV - 32/36 1
3-41542470-G-A c.3227-37726C>T - IntronicSNV - 32/36 1
3-41543511-T-C c.3227-38767A>G - IntronicSNV - 32/36 1
3-41544519-A-G c.3227-39775T>C - IntronicSNV - 32/36 1
3-41561577-AT-A c.3226+45938del - IntronicDeletion - 32/36 1
3-41572965-A-G c.3226+34551T>C - IntronicSNV - 32/36 1
3-41573015-GA-G c.3226+34500del - IntronicDeletion - 32/36 1
3-41573409-A-G c.3226+34107T>C - IntronicSNV - 32/36 1
3-41576183-A-C c.3226+31333T>G - IntronicSNV - 32/36 1
3-41576836-G-C c.3226+30680C>G - IntronicSNV - 32/36 1
3-41584255-C-T c.3226+23261G>A - IntronicSNV - 32/36 1
3-41598120-A-T c.3226+9396T>A - IntronicSNV - 32/36 1
3-41599526-T-C c.3226+7990A>G - IntronicSNV - 32/36 1
3-41600283-G-A c.3226+7233C>T - IntronicSNV - 32/36 1
3-41600856-G-A c.3226+6660C>T - IntronicSNV - 32/36 1
3-41606692-G-A c.3226+824C>T - IntronicSNV - 32/36 1
3-41607388-T-A c.3226+128A>T - IntronicSNV - 32/36 1
3-41607388-T-C c.3226+128A>G - IntronicSNV - 32/36 2
3-41607456-A-C c.3226+60T>G - IntronicSNV - 32/36 1
3-41607456-A-G c.3226+60T>C - IntronicSNV - 32/36 1
3-41607515-C-A c.3226+1G>T - IntronicSNV - 32/36 1
3-41607522-C-A c.3220G>T p.E1074* Nonsense 32/37 - 1
3-41607528-G-A c.3214C>T p.L1072F Missense 32/37 - 1
3-41607533-T-C c.3209A>G p.E1070G Missense 32/37 - 1
3-41607533-T-G c.3209A>C p.E1070A Missense 32/37 - 1
3-41607536-A-G c.3206T>C p.M1069T Missense 32/37 - 2
3-41607539-T-A c.3203A>T p.N1068I Missense 32/37 - 1
3-41607539-T-C c.3203A>G p.N1068S Missense 32/37 - 2
3-41607540-T-C c.3202A>G p.N1068D Missense 32/37 - 1
3-41607541-C-A c.3201G>T p.S1067= Synonymous 32/37 - 1
3-41607541-C-G c.3201G>C p.S1067= Synonymous 32/37 - 1
3-41607541-C-T c.3201G>A p.S1067= Synonymous 32/37 - 1
3-41607542-G-C c.3200C>G p.S1067W Missense 32/37 - 1
3-41607546-C-A c.3196G>T p.D1066Y Missense 32/37 - 2
3-41607548-T-G c.3194A>C p.K1065T Missense 32/37 - 2
3-41607551-C-T c.3191G>A p.C1064Y Missense 32/37 - 1
3-41607551-C-G c.3191G>C p.C1064S Missense 32/37 - 1
3-41607552-A-C c.3190T>G p.C1064G Missense 32/37 - 3
3-41607552-A-T c.3190T>A p.C1064S Missense 32/37 - 1
3-41607557-A-G c.3185T>C p.V1062A Missense 32/37 - 1
3-41607576-C-T c.3166G>A p.A1056T Missense 32/37 - 1
3-41607592-G-A c.3150C>T p.T1050= Synonymous 32/37 - 2
3-41607592-G-C c.3150C>G p.T1050= Synonymous 32/37 - 2
3-41607592-G-T c.3150C>A p.T1050= Synonymous 32/37 - 2
3-41607594-T-G c.3148A>C p.T1050P Missense 32/37 - 1
3-41607600-C-A c.3142G>T p.G1048C Missense 32/37 - 1
3-41607600-C-G c.3142G>C p.G1048R Missense 32/37 - 1
3-41607605-A-C c.3137T>G p.I1046S Missense 32/37 - 1
3-41607611-T-C c.3131A>G p.E1044G Missense 32/37 - 1
3-41607615-G-A c.3127C>T p.Q1043* Nonsense 32/37 - 1
3-41607701-C-A c.3121-80G>T - IntronicSNV - 31/36 7
3-41607701-C-G c.3121-80G>C - IntronicSNV - 31/36 7
3-41607701-C-T c.3121-80G>A - IntronicSNV - 31/36 7
3-41617623-A-G c.3121-10002T>C - IntronicSNV - 31/36 1
3-41644126-T-A c.3120+13034A>T - IntronicSNV - 31/36 1
3-41654322-G-T c.3120+2838C>A - IntronicSNV - 31/36 1
3-41657113-A-G c.3120+47T>C - IntronicSNV - 31/36 1
3-41657178-G-A c.3102C>T p.L1034= Synonymous 31/37 - 1
3-41657178-G-C c.3102C>G p.L1034= Synonymous 31/37 - 1
3-41657178-G-T c.3102C>A p.L1034= Synonymous 31/37 - 1
3-41657184-G-A c.3096C>T p.I1032= Synonymous 31/37 - 1
3-41657184-G-T c.3096C>A p.I1032= Synonymous 31/37 - 1
3-41657198-C-A c.3082G>T p.E1028* Nonsense 31/37 - 1
3-41657198-C-T c.3082G>A p.E1028K Missense 31/37 - 2
3-41657201-C-A c.3079G>T p.E1027* Nonsense 31/37 - 1
3-41657201-C-T c.3079G>A p.E1027K Missense 31/37 - 1
3-41657206-A-T c.3074T>A p.L1025H Missense 31/37 - 1
3-41657208-T-A c.3072A>T p.R1024S Missense 31/37 - 1
3-41657208-T-G c.3072A>C p.R1024S Missense 31/37 - 1
3-41657328-G-A c.3072-120C>T - IntronicSNV - 30/36 1
3-41667545-T-C c.3072-10337A>G - IntronicSNV - 30/36 1
3-41667545-T-G c.3072-10337A>C - IntronicSNV - 30/36 1
3-41670171-T-C c.3072-12963A>G - IntronicSNV - 30/36 1
3-41674594-G-A c.3072-17386C>T - IntronicSNV - 30/36 1
3-41674594-G-C c.3072-17386C>G - IntronicSNV - 30/36 1
3-41682070-C-T c.3071+23028G>A - IntronicSNV - 30/36 1
3-41683686-T-C c.3071+21412A>G - IntronicSNV - 30/36 1
3-41683685-CT-C c.3071+21412del - IntronicDeletion - 30/36 1
3-41686427-C-A c.3071+18671G>T - IntronicSNV - 30/36 1
3-41686427-C-T c.3071+18671G>A - IntronicSNV - 30/36 1
3-41688528-G-T c.3071+16570C>A - IntronicSNV - 30/36 1
3-41699327-C-A c.3071+5771G>T - IntronicSNV - 30/36 1
3-41702203-T-A c.3071+2895A>T - IntronicSNV - 30/36 1
3-41703190-T-C c.3071+1908A>G - IntronicSNV - 30/36 1
3-41705105-A-C c.3064T>G p.F1022V Missense 30/37 - 1
3-41705107-G-A c.3062C>T p.T1021I Missense 30/37 - 1
3-41705110-G-T c.3059C>A p.P1020Q Missense 30/37 - 1
3-41705129-C-T c.3040G>A p.A1014T Missense 30/37 - 1
3-41705130-G-A c.3039C>T p.V1013= Synonymous 30/37 - 1
3-41705132-C-G c.3037G>C p.V1013L Missense 30/37 - 1
3-41705150-A-G c.3019T>C p.Y1007H Missense 30/37 - 1
3-41705151-AT-A c.3018del p.Y1007Mfs*3 Frameshift 30/37 - 1
3-41705151-T-A c.3018A>T p.A1006= Synonymous 30/37 - 1
3-41705151-T-C c.3018A>G p.A1006= Synonymous 30/37 - 1
3-41705151-T-G c.3018A>C p.A1006= Synonymous 30/37 - 1
3-41705156-G-A c.3013C>T p.P1005S Missense 30/37 - 1
3-41705159-C-A c.3010G>T p.V1004L Missense 30/37 - 1
3-41705159-C-G c.3010G>C p.V1004L Missense 30/37 - 1
3-41705161-G-A c.3008C>T p.P1003L Missense 30/37 - 2
3-41705161-G-C c.3008C>G p.P1003R Missense 30/37 - 1
3-41705163-G-A c.3006C>T p.D1002= Synonymous 30/37 - 2
3-41705165-C-A c.3004G>T p.D1002Y Missense 30/37 - 1
3-41705165-C-T c.3004G>A p.D1002N Missense 30/37 - 1
3-41705167-G-T c.3002C>A p.P1001H Missense 30/37 - 1
3-41705168-G-A c.3001C>T p.P1001S Missense 30/37 - 1
3-41705172-T-C c.2997A>G p.L999= Synonymous 30/37 - 3
3-41705174-A-G c.2995T>C p.L999= Synonymous 30/37 - 2
3-41705175-A-C c.2994T>G p.L998= Synonymous 30/37 - 1
3-41705175-A-G c.2994T>C p.L998= Synonymous 30/37 - 1
3-41705175-A-T c.2994T>A p.L998= Synonymous 30/37 - 1
3-41705177-G-A c.2992C>T p.L998F Missense 30/37 - 2
3-41705190-C-T c.2979G>A p.Q993= Synonymous 30/37 - 3
3-41710175-G-C c.2979-4985C>G - IntronicSNV - 29/36 1
3-41722697-T-A c.2978+302A>T - IntronicSNV - 29/36 1
3-41722976-G-A c.2978+23C>T - IntronicSNV - 29/36 1
3-41722999-T-A c.2978A>T p.Q993L Missense 29/37 - 1
3-41723000-G-A c.2977C>T p.Q993* Nonsense 29/37 - 1
3-41723009-A-C c.2968T>G p.L990V Missense 29/37 - 1
3-41723017-C-T c.2960G>A p.R987Q Missense 29/37 - 1
3-41723018-G-C c.2959C>G p.R987G Missense 29/37 - 1
3-41723022-G-A c.2955C>T p.L985= Synonymous 29/37 - 3
3-41723024-G-A c.2953C>T p.L985F Missense 29/37 - 2
3-41723024-G-T c.2953C>A p.L985I Missense 29/37 - 1
3-41723028-CAG-GAT c.2947_2949delinsATC p.L983I Missense 29/37 - 1
3-41723030-G-A c.2947C>T p.L983= Synonymous 29/37 - 1
3-41723042-C-T c.2935G>A p.D979N Missense 29/37 - 1
3-41723044-G-C c.2933C>G p.S978C Missense 29/37 - 1
3-41723051-C-T c.2926G>A p.V976I Missense 29/37 - 1
3-41723053-ACT-A c.2923_2924del p.S975Cfs*2 Frameshift 29/37 - 1
3-41723053-C-A c.2924G>T p.S975I Missense 29/37 - 1
3-41723053-C-T c.2924G>A p.S975N Missense 29/37 - 1
3-41723056-G-A c.2921C>T p.A974V Missense 29/37 - 1
3-41723056-G-C c.2921C>G p.A974G Missense 29/37 - 1
3-41723057-C-T c.2920G>A p.A974T Missense 29/37 - 4
3-41723058-C-A c.2919G>T p.K973N Missense 29/37 - 1
3-41723058-C-G c.2919G>C p.K973N Missense 29/37 - 1
3-41723058-C-T c.2919G>A p.K973= Synonymous 29/37 - 1
3-41723063-C-T c.2914G>A p.E972K Missense 29/37 - 1
3-41723069-C-T c.2908G>A p.G970S Missense 29/37 - 1
3-41723072-C-G c.2905G>C p.D969H Missense 29/37 - 1
3-41723076-A-G c.2901T>C p.F967= Synonymous 29/37 - 1
3-41723081-C-T c.2896G>A p.E966K Missense 29/37 - 1
3-41723090-C-T c.2887G>A p.V963M Missense 29/37 - 13
3-41723091-G-A c.2886C>T p.L962= Synonymous 29/37 - 1
3-41723091-G-C c.2886C>G p.L962= Synonymous 29/37 - 1
3-41723091-G-T c.2886C>A p.L962= Synonymous 29/37 - 1
3-41723092-A-T c.2885T>A p.L962H Missense 29/37 - 1
3-41723098-G-A c.2879C>T p.S960F Missense 29/37 - 1
3-41723103-G-A c.2874C>T p.T958= Synonymous 29/37 - 1
3-41723104-G-T c.2873C>A p.T958N Missense 29/37 - 1
3-41723112-G-A c.2865C>T p.L955= Synonymous 29/37 - 1
3-41723112-G-C c.2865C>G p.L955= Synonymous 29/37 - 1
3-41723112-G-T c.2865C>A p.L955= Synonymous 29/37 - 1
3-41723119-C-T c.2858G>A p.R953Q Missense 29/37 - 4
3-41723120-G-A c.2857C>T p.R953W Missense 29/37 - 3
3-41723122-A-C c.2855T>G p.L952W Missense 29/37 - 1
3-41723124-G-A c.2853C>T p.S951= Synonymous 29/37 - 1
3-41723128-A-G c.2849T>C p.F950S Missense 29/37 - 2
3-41723141-C-G c.2836G>C p.E946Q Missense 29/37 - 1
3-41723142-C-T c.2835G>A p.V945= Synonymous 29/37 - 1
3-41723250-G-A c.2827C>T p.Q943* Nonsense 28/37 - 1
3-41723252-C-T c.2825G>A p.S942N Missense 28/37 - 1
3-41723256-G-A c.2821C>T p.Q941* Nonsense 28/37 - 1
3-41723256-G-C c.2821C>G p.Q941E Missense 28/37 - 1
3-41723269-C-A c.2808G>T p.L936F Missense 28/37 - 1
3-41723269-C-G c.2808G>C p.L936F Missense 28/37 - 1
3-41723278-C-A c.2799G>T p.L933= Synonymous 28/37 - 1
3-41723278-C-G c.2799G>C p.L933= Synonymous 28/37 - 1
3-41723278-C-T c.2799G>A p.L933= Synonymous 28/37 - 1
3-41723280-G-A c.2797C>T p.L933= Synonymous 28/37 - 5
3-41723286-A-G c.2791T>C p.Y931H Missense 28/37 - 1
3-41723289-C-G c.2788G>C p.D930H Missense 28/37 - 2
3-41723291-A-G c.2786T>C p.V929A Missense 28/37 - 1
3-41725005-A-G c.2782-1710T>C - IntronicSNV - 27/36 1
3-41725869-G-A c.2782-2574C>T - IntronicSNV - 27/36 1
3-41725869-G-T c.2782-2574C>A - IntronicSNV - 27/36 1
3-41731492-A-G c.2782-8197T>C - IntronicSNV - 27/36 1
3-41741879-G-A c.2781+4670C>T - IntronicSNV - 27/36 1
3-41746549-C-A c.2781G>T p.T927= Synonymous 27/37 - 1
3-41746550-G-A c.2780C>T p.T927M Missense 27/37 - 1
3-41746559-T-C c.2771A>G p.Y924C Missense 27/37 - 1
3-41746561-G-A c.2769C>T p.D923= Synonymous 27/37 - 1
3-41746563-C-T c.2767G>A p.D923N Missense 27/37 - 1
3-41746572-A-C c.2758T>G p.L920V Missense 27/37 - 1
3-41746578-G-A c.2752C>T p.P918S Missense 27/37 - 2
3-41746580-T-C c.2750A>G p.Y917C Missense 27/37 - 1
3-41746585-T-C c.2745A>G p.I915M Missense 27/37 - 1
3-41746590-T-C c.2740A>G p.I914V Missense 27/37 - 3
3-41746596-C-T c.2734G>A p.E912K Missense 27/37 - 2
3-41746597-A-G c.2733T>C p.F911= Synonymous 27/37 - 2
3-41746597-A-T c.2733T>A p.F911L Missense 27/37 - 1
3-41746605-A-G c.2725T>C p.S909P Missense 27/37 - 2
3-41746618-G-C c.2712C>G p.I904M Missense 27/37 - 1
3-41746626-C-A c.2704G>T p.E902* Nonsense 27/37 - 3
3-41746631-G-A c.2699C>T p.S900L Missense 27/37 - 2
3-41746632-A-G c.2698T>C p.S900P Missense 27/37 - 1
3-41746634-G-A c.2696C>T p.A899V Missense 27/37 - 1
3-41746635-C-T c.2695G>A p.A899T Missense 27/37 - 1
3-41746641-G-T c.2689C>A p.L897M Missense 27/37 - 1
3-41746749-T-A c.2683A>T p.I895L Missense 26/37 - 1
3-41746752-C-T c.2680G>A p.A894T Missense 26/37 - 1
3-41746754-C-T c.2678G>A p.G893E Missense 26/37 - 1
3-41746765-C-A c.2667G>T p.T889= Synonymous 26/37 - 3
3-41746765-C-G c.2667G>C p.T889= Synonymous 26/37 - 3
3-41746765-C-T c.2667G>A p.T889= Synonymous 26/37 - 3
3-41746766-G-A c.2666C>T p.T889M Missense 26/37 - 4
3-41746767-T-C c.2665A>G p.T889A Missense 26/37 - 4
3-41746775-G-C c.2657C>G p.S886* Nonsense 26/37 - 1
3-41746787-T-A c.2645A>T p.K882I Missense 26/37 - 1
3-41746788-T-A c.2644A>T p.K882* Nonsense 26/37 - 4
3-41748394-G-T c.2635-1597C>A - IntronicSNV - 25/36 1
3-41750260-A-G c.2635-3463T>C - IntronicSNV - 25/36 1
3-41750989-T-C c.2635-4192A>G - IntronicSNV - 25/36 1
3-41753647-C-T c.2634+3082G>A - IntronicSNV - 25/36 2
3-41755359-T-C c.2634+1370A>G - IntronicSNV - 25/36 1
3-41756740-C-T c.2623G>A p.G875R Missense 25/37 - 6
3-41756747-G-A c.2616C>T p.F872= Synonymous 25/37 - 1
3-41756751-A-C c.2612T>G p.L871R Missense 25/37 - 1
3-41756761-C-T c.2602G>A p.E868K Missense 25/37 - 1
3-41756762-T-A c.2601A>T p.T867= Synonymous 25/37 - 1
3-41756762-T-C c.2601A>G p.T867= Synonymous 25/37 - 1
3-41756762-T-G c.2601A>C p.T867= Synonymous 25/37 - 2
3-41756762-T-TGAGAGGCTG c.2600_2601insCAGCCTCTC p.T867_E868insSLS InFrameInsertion 25/37 - 1
3-41756763-G-GTCGGGT c.2599_2600insACCCGA p.V866_T867insNP InFrameInsertion 25/37 - 1
3-41756773-G-C c.2590C>G p.Q864E Missense 25/37 - 1
3-41756775-G-A c.2588C>T p.P863L Missense 25/37 - 2
3-41756778-C-T c.2585G>A p.R862Q Missense 25/37 - 9
3-41756777-T-A c.2586A>T p.R862= Synonymous 25/37 - 1
3-41756777-T-C c.2586A>G p.R862= Synonymous 25/37 - 1
3-41756777-T-G c.2586A>C p.R862= Synonymous 25/37 - 1
3-41756779-G-A c.2584C>T p.R862* Nonsense 25/37 - 18
3-41756779-G-T c.2584C>A p.R862= Synonymous 25/37 - 1
3-41756862-G-T c.2577+77C>A - IntronicSNV - 24/36 1
3-41756864-G-A c.2577+75C>T - IntronicSNV - 24/36 1
3-41756935-G-A c.2577+4C>T - IntronicSNV - 24/36 1
3-41756942-T-A c.2574A>T p.S858= Synonymous 24/37 - 2
3-41756942-T-C c.2574A>G p.S858= Synonymous 24/37 - 3
3-41756942-T-G c.2574A>C p.S858= Synonymous 24/37 - 2
3-41756944-A-T c.2572T>A p.S858T Missense 24/37 - 1
3-41756949-A-G c.2567T>C p.V856A Missense 24/37 - 1
3-41756950-C-T c.2566G>A p.V856I Missense 24/37 - 5
3-41756957-A-C c.2559T>G p.L853= Synonymous 24/37 - 1
3-41756958-A-C c.2558T>G p.L853R Missense 24/37 - 1
3-41756959-G-C c.2557C>G p.L853V Missense 24/37 - 1
3-41756963-T-A c.2553A>T p.V851= Synonymous 24/37 - 1
3-41756963-T-C c.2553A>G p.V851= Synonymous 24/37 - 1
3-41756963-T-G c.2553A>C p.V851= Synonymous 24/37 - 1
3-41756965-C-T c.2551G>A p.V851I Missense 24/37 - 29
3-41756978-G-A c.2538C>T p.L846= Synonymous 24/37 - 2
3-41756984-C-T c.2532G>A p.L844= Synonymous 24/37 - 1
3-41756986-A-G c.2530T>C p.L844= Synonymous 24/37 - 2
3-41756986-A-T c.2530T>A p.L844M Missense 24/37 - 28
3-41756992-G-T c.2524C>A p.L842M Missense 24/37 - 1
3-41756995-G-A c.2521C>T p.Q841* Nonsense 24/37 - 1
3-41757007-C-T c.2509G>A p.V837I Missense 24/37 - 1
3-41757008-TG-CA c.2507_2508inv p.T836M Missense 24/37 - 1
3-41757012-G-A c.2504C>T p.S835L Missense 24/37 - 2
3-41757012-G-C c.2504C>G p.S835* Nonsense 24/37 - 1
3-41757012-G-T c.2504C>A p.S835* Nonsense 24/37 - 1
3-41757015-GG-TA c.2500_2501delinsTA p.P834* Nonsense 24/37 - 1
3-41757019-G-A c.2497C>T p.H833Y Missense 24/37 - 1
3-41757019-GT-G c.2496del p.K832Nfs*8 Frameshift 24/37 - 1
3-41757025-G-A c.2491C>T p.R831C Missense 24/37 - 1
3-41757026-TCC-ACA c.2488_2490delinsTGT p.G830C Missense 24/37 - 1
3-41757039-G-A c.2477C>T p.A826V Missense 24/37 - 1
3-41757043-A-T c.2473T>A p.L825M Missense 24/37 - 1
3-41757046-A-C c.2470T>G p.S824A Missense 24/37 - 7
3-41757049-T-G c.2467A>C p.N823H Missense 24/37 - 1
3-41757057-T-C c.2459A>G p.D820G Missense 24/37 - 1
3-41757059-A-C c.2457T>G p.G819= Synonymous 24/37 - 1
3-41757059-A-G c.2457T>C p.G819= Synonymous 24/37 - 1
3-41757059-A-T c.2457T>A p.G819= Synonymous 24/37 - 1
3-41757060-C-T c.2456G>A p.G819D Missense 24/37 - 3
3-41757708-A-AAAC c.2456-649_2456-648insGTT - IntronicInsertion - 23/36 1
3-41759191-T-C c.2455+29A>G - IntronicSNV - 23/36 5
3-41759219-C-T c.2455+1G>A - IntronicSNV - 23/36 2
3-41759228-C-T c.2447G>A p.R816Q Missense 23/37 - 2
3-41759238-C-A c.2437G>T p.E813* Nonsense 23/37 - 3
3-41759238-C-G c.2437G>C p.E813Q Missense 23/37 - 1
3-41759250-G-A c.2425C>T p.H809Y Missense 23/37 - 1
3-41759257-G-A c.2418C>T p.L806= Synonymous 23/37 - 1
3-41759257-G-C c.2418C>G p.L806= Synonymous 23/37 - 1
3-41759257-G-T c.2418C>A p.L806= Synonymous 23/37 - 1
3-41759262-G-A c.2413C>T p.L805F Missense 23/37 - 1
3-41759264-T-C c.2411A>G p.D804G Missense 23/37 - 1
3-41759281-G-A c.2394C>T p.Y798= Synonymous 23/37 - 1
3-41759282-T-G c.2393A>C p.Y798S Missense 23/37 - 1
3-41759287-A-G c.2388T>C p.N796= Synonymous 23/37 - 3
3-41759288-T-C c.2387A>G p.N796S Missense 23/37 - 8
3-41759299-C-A c.2376G>T p.Q792H Missense 23/37 - 1
3-41759312-G-A c.2363C>T p.P788L Missense 23/37 - 1
3-41759313-G-A c.2362C>T p.P788S Missense 23/37 - 2
3-41759313-G-C c.2362C>G p.P788A Missense 23/37 - 1
3-41759313-G-T c.2362C>A p.P788T Missense 23/37 - 1
3-41759321-T-G c.2354A>C p.K785T Missense 23/37 - 1
3-41759331-C-T c.2344G>A p.D782N Missense 23/37 - 2
3-41759334-T-TA c.2340_2341insT p.R781* Nonsense 23/37 - 1
3-41759338-G-A c.2337C>T p.I779= Synonymous 23/37 - 2
3-41759340-T-G c.2335A>C p.I779L Missense 23/37 - 1
3-41759343-A-G c.2332T>C p.Y778H Missense 23/37 - 1
3-41759344-C-T c.2331G>A p.M777I Missense 23/37 - 1
3-41759350-C-A c.2325G>T p.L775= Synonymous 23/37 - 2
3-41759525-C-T c.2322-172G>A - IntronicSNV - 22/36 3
3-41760895-T-C c.2322-1542A>G - IntronicSNV - 22/36 1
3-41761083-T-C c.2322-1730A>G - IntronicSNV - 22/36 1
3-41761828-A-T c.2322-2475T>A - IntronicSNV - 22/36 1
3-41764300-G-A c.2322-4947C>T - IntronicSNV - 22/36 2
3-41765955-A-G c.2322-6602T>C - IntronicSNV - 22/36 4
3-41767234-C-T c.2322-7881G>A - IntronicSNV - 22/36 1
3-41781768-A-G c.2321+14085T>C - IntronicSNV - 22/36 1
3-41784437-GA-G c.2321+11415del - IntronicDeletion - 22/36 1
3-41785939-G-T c.2321+9914C>A - IntronicSNV - 22/36 1
3-41786009-T-C c.2321+9844A>G - IntronicSNV - 22/36 5
3-41788492-T-G c.2321+7361A>C - IntronicSNV - 22/36 2
3-41791097-A-C c.2321+4756T>G - IntronicSNV - 22/36 1
3-41794937-T-G c.2321+916A>C - IntronicSNV - 22/36 1
3-41795749-A-T c.2321+104T>A - IntronicSNV - 22/36 1
3-41795763-GATACACAGAGGCCAAGAAATACCCTACAACTACTA-G c.2321+55_2321+89del - IntronicDeletion - 22/36 1
3-41795841-A-C c.2321+12T>G - IntronicSNV - 22/36 6
3-41795841-A-T c.2321+12T>A - IntronicSNV - 22/36 4
3-41795851-A-G c.2321+2T>C - IntronicSNV - 22/36 1
3-41795859-T-C c.2315A>G p.Q772R Missense 22/37 - 1
3-41795864-A-C c.2310T>G p.S770R Missense 22/37 - 2
3-41795864-A-T c.2310T>A p.S770R Missense 22/37 - 2
3-41795866-T-G c.2308A>C p.S770R Missense 22/37 - 2
3-41795860-GGCAACTGAGCA-G c.2303_2313del p.L768Pfs*26 Frameshift 22/37 - 1
3-41795874-AA-GG c.2299_2300delinsCC p.L767P Missense 22/37 - 1
3-41795881-C-T c.2293G>A p.E765K Missense 22/37 - 1
3-41795882-A-C c.2292T>G p.R764= Synonymous 22/37 - 1
3-41795882-A-G c.2292T>C p.R764= Synonymous 22/37 - 2
3-41795882-A-T c.2292T>A p.R764= Synonymous 22/37 - 1
3-41795883-C-T c.2291G>A p.R764H Missense 22/37 - 2
3-41795885-G-A c.2289C>T p.N763= Synonymous 22/37 - 3
3-41795893-T-C c.2281A>G p.I761V Missense 22/37 - 1
3-41795894-C-A c.2280G>T p.L760F Missense 22/37 - 3
3-41795894-C-G c.2280G>C p.L760F Missense 22/37 - 4
3-41795894-C-CA c.2279dup p.L760Ffs*4 Frameshift 22/37 - 2
3-41795900-A-G c.2274T>C p.Y758= Synonymous 22/37 - 2
3-41795908-G-T c.2266C>A p.L756I Missense 22/37 - 1
3-41795909-AAC-CAT c.2263_2265delinsATG p.V755M Missense 22/37 - 1
3-41795919-G-A c.2255C>T p.A752V Missense 22/37 - 1
3-41795920-C-A c.2254G>T p.A752S Missense 22/37 - 1
3-41795925-G-A c.2249C>T p.A750V Missense 22/37 - 3
3-41795926-C-T c.2248G>A p.A750T Missense 22/37 - 1
3-41795927-T-C c.2247A>G p.R749= Synonymous 22/37 - 1
3-41795929-T-G c.2245A>C p.R749= Synonymous 22/37 - 1
3-41795940-GA-CC c.2233_2234delinsGG p.S745G Missense 22/37 - 1
3-41795941-A-C c.2233T>G p.S745A Missense 22/37 - 1
3-41795943-G-A c.2231C>T p.P744L Missense 22/37 - 1
3-41795946-C-A c.2228G>T p.S743I Missense 22/37 - 2
3-41795947-T-C c.2227A>G p.S743G Missense 22/37 - 1
3-41795949-T-A c.2225A>T p.D742V Missense 22/37 - 1
3-41795951-A-C c.2223T>G p.L741= Synonymous 22/37 - 2
3-41795951-A-G c.2223T>C p.L741= Synonymous 22/37 - 2
3-41795951-A-T c.2223T>A p.L741= Synonymous 22/37 - 2
3-41795957-A-G c.2217T>C p.R739= Synonymous 22/37 - 1
3-41795958-C-T c.2216G>A p.R739H Missense 22/37 - 2
3-41795959-G-A c.2215C>T p.R739C Missense 22/37 - 1
3-41795959-G-T c.2215C>A p.R739S Missense 22/37 - 1
3-41795964-AT-A c.2209del p.I737Lfs*24 Frameshift 22/37 - 1
3-41795976-A-G c.2198T>C p.F733S Missense 22/37 - 2
3-41795979-C-A c.2195G>T p.G732V Missense 22/37 - 1
3-41814188-G-A c.2193+16965C>T - IntronicSNV - 21/36 1
3-41815619-A-C c.2193+15534T>G - IntronicSNV - 21/36 1
3-41815817-T-C c.2193+15336A>G - IntronicSNV - 21/36 1
3-41816360-A-G c.2193+14793T>C - IntronicSNV - 21/36 1
3-41816450-A-C c.2193+14703T>G - IntronicSNV - 21/36 1
3-41816450-A-G c.2193+14703T>C - IntronicSNV - 21/36 1
3-41816459-C-G c.2193+14694G>C - IntronicSNV - 21/36 1
3-41816459-C-T c.2193+14694G>A - IntronicSNV - 21/36 1
3-41816472-C-T c.2193+14681G>A - IntronicSNV - 21/36 1
3-41816589-C-G c.2193+14564G>C - IntronicSNV - 21/36 1
3-41817951-C-A c.2193+13202G>T - IntronicSNV - 21/36 1
3-41817951-C-T c.2193+13202G>A - IntronicSNV - 21/36 1
3-41822708-G-A c.2193+8445C>T - IntronicSNV - 21/36 1
3-41823524-CT-C c.2193+7628del - IntronicDeletion - 21/36 1
3-41827026-A-C c.2193+4127T>G - IntronicSNV - 21/36 1
3-41827026-A-G c.2193+4127T>C - IntronicSNV - 21/36 1
3-41830935-G-T c.2193+218C>A - IntronicSNV - 21/36 1
3-41831162-G-A c.2184C>T p.I728= Synonymous 21/37 - 1
3-41831162-G-T c.2184C>A p.I728= Synonymous 21/37 - 1
3-41831171-T-C c.2175A>G p.Q725= Synonymous 21/37 - 1
3-41831172-T-A c.2174A>T p.Q725L Missense 21/37 - 2
3-41831187-CA-GT c.2158_2159delinsAC p.C720T Missense 21/37 - 1
3-41831195-C-A c.2151G>T p.M717I Missense 21/37 - 3
3-41831195-C-G c.2151G>C p.M717I Missense 21/37 - 2
3-41831195-C-T c.2151G>A p.M717I Missense 21/37 - 2
3-41831196-A-G c.2150T>C p.M717T Missense 21/37 - 2
3-41831203-C-A c.2143G>T p.A715S Missense 21/37 - 5
3-41831203-C-T c.2143G>A p.A715T Missense 21/37 - 27
3-41831205-A-C c.2141T>G p.F714C Missense 21/37 - 1
3-41831204-G-C c.2142C>G p.F714L Missense 21/37 - 1
3-41831204-G-T c.2142C>A p.F714L Missense 21/37 - 1
3-41831206-A-G c.2140T>C p.F714L Missense 21/37 - 1
3-41831218-T-C c.2128A>G p.M710V Missense 21/37 - 1
3-41831226-T-A c.2120A>T p.Q707L Missense 21/37 - 1
3-41831230-C-T c.2116G>A p.V706I Missense 21/37 - 1
3-41831234-G-C c.2112C>G p.C704W Missense 21/37 - 1
3-41831246-G-A c.2100C>T p.A700= Synonymous 21/37 - 3
3-41831257-T-A c.2089A>T p.N697Y Missense 21/37 - 1
3-41831263-C-T c.2083G>A p.V695I Missense 21/37 - 3
3-41831267-G-A c.2079C>T p.N693= Synonymous 21/37 - 1
3-41831268-T-A c.2078A>T p.N693I Missense 21/37 - 1
3-41831275-C-T c.2071G>A p.G691R Missense 21/37 - 1
3-41831279-C-A c.2067G>T p.K689N Missense 21/37 - 1
3-41831279-C-G c.2067G>C p.K689N Missense 21/37 - 1
3-41831285-A-G c.2061T>C p.I687= Synonymous 21/37 - 1
3-41831285-A-T c.2061T>A p.I687= Synonymous 21/37 - 1
3-41831290-C-T c.2056G>A p.V686I Missense 21/37 - 11
3-41831291-A-T c.2055T>A p.N685K Missense 21/37 - 2
3-41831297-G-C c.2049C>G p.F683L Missense 21/37 - 1
3-41831297-G-T c.2049C>A p.F683L Missense 21/37 - 1
3-41831299-A-G c.2047T>C p.F683L Missense 21/37 - 1
3-41831300-G-A c.2046C>T p.A682= Synonymous 21/37 - 1
3-41831300-G-C c.2046C>G p.A682= Synonymous 21/37 - 1
3-41831300-G-T c.2046C>A p.A682= Synonymous 21/37 - 1
3-41831302-C-T c.2044G>A p.A682T Missense 21/37 - 2
3-41831316-C-T c.2030G>A p.R677H Missense 21/37 - 1
3-41831317-G-A c.2029C>T p.R677C Missense 21/37 - 1
3-41831325-C-A c.2021G>T p.R674I Missense 21/37 - 1
3-41831325-C-T c.2021G>A p.R674K Missense 21/37 - 2
3-41831325-CT-AG c.2020_2021inv p.R674L Missense 21/37 - 1
3-41831330-C-A c.2016G>T p.L672F Missense 21/37 - 1
3-41831330-CAA-ATG c.2014_2016delinsCAT p.L672H Missense 21/37 - 1
3-41831330-C-G c.2016G>C p.L672F Missense 21/37 - 1
3-41833907-A-T c.2011-2572T>A - IntronicSNV - 20/36 1
3-41836470-A-G c.2011-5135T>C - IntronicSNV - 20/36 1
3-41839370-T-A c.2010+2254A>T - IntronicSNV - 20/36 3
3-41839370-T-G c.2010+2254A>C - IntronicSNV - 20/36 3
3-41841616-C-T c.2010+8G>A - IntronicSNV - 20/36 1
3-41841618-T-C c.2010+6A>G - IntronicSNV - 20/36 2
3-41841623-C-A c.2010+1G>T - IntronicSNV - 20/36 1
3-41841626-A-C c.2008T>G p.S670A Missense 20/37 - 1
3-41841626-A-AT c.2007dup p.S670Ifs*5 Frameshift 20/37 - 1
3-41841632-C-T c.2002G>A p.A668T Missense 20/37 - 1
3-41841634-G-A c.2000C>T p.T667I Missense 20/37 - 1
3-41841638-T-C c.1996A>G p.I666V Missense 20/37 - 1
3-41841642-TAA-T c.1991_1992del p.L664Qfs*10 Frameshift 20/37 - 1
3-41841644-G-C c.1990C>G p.L664V Missense 20/37 - 1
3-41841644-G-T c.1990C>A p.L664I Missense 20/37 - 1
3-41841645-AG-TT c.1988_1989delinsAA p.S663* Nonsense 20/37 - 1
3-41841647-A-AG c.1986_1987insC p.S663Lfs*3 Frameshift 20/37 - 1
3-41841647-A-C c.1987T>G p.S663A Missense 20/37 - 1
3-41841653-C-G c.1981G>C p.A661P Missense 20/37 - 1
3-41841653-C-T c.1981G>A p.A661T Missense 20/37 - 1
3-41841658-GA-TT c.1975_1976delinsAA p.S659N Missense 20/37 - 1
3-41841661-T-C c.1973A>G p.H658R Missense 20/37 - 4
3-41841664-CT-TG c.1969_1970delinsCA p.R657Q Missense 20/37 - 1
3-41841671-G-T c.1963C>A p.L655I Missense 20/37 - 2
3-41841672-G-A c.1962C>T p.Y654= Synonymous 20/37 - 1
3-41841675-C-T c.1959G>A p.W653* Nonsense 20/37 - 2
3-41841676-C-A c.1958G>T p.W653L Missense 20/37 - 1
3-41841676-C-T c.1958G>A p.W653* Nonsense 20/37 - 1
3-41841688-C-G c.1946G>C p.G649A Missense 20/37 - 1
3-41841695-C-A c.1939G>T p.E647* Nonsense 20/37 - 1
3-41841695-C-T c.1939G>A p.E647K Missense 20/37 - 1
3-41841697-C-T c.1937G>A p.G646E Missense 20/37 - 3
3-41841703-A-C c.1931T>G p.I644S Missense 20/37 - 1
3-41841705-A-G c.1929T>C p.F643= Synonymous 20/37 - 3
3-41841709-C-G c.1925G>C p.G642A Missense 20/37 - 1
3-41841711-C-A c.1923G>T p.Q641H Missense 20/37 - 1
3-41841714-G-A c.1920C>T p.S640= Synonymous 20/37 - 3
3-41841714-G-C c.1920C>G p.S640= Synonymous 20/37 - 3
3-41841714-G-T c.1920C>A p.S640= Synonymous 20/37 - 3
3-41841716-A-C c.1918T>G p.S640A Missense 20/37 - 42
3-41841717-ACTG-A c.1915_1917del p.Q639del InFrameDeletion 20/37 - 1
3-41841717-C-A c.1917G>T p.Q639H Missense 20/37 - 1
3-41841720-A-C c.1914T>G p.A638= Synonymous 20/37 - 1
3-41841720-A-G c.1914T>C p.A638= Synonymous 20/37 - 1
3-41841720-A-T c.1914T>A p.A638= Synonymous 20/37 - 1
3-41841722-C-A c.1912G>T p.A638S Missense 20/37 - 1
3-41841722-C-G c.1912G>C p.A638P Missense 20/37 - 1
3-41841724-G-A c.1910C>T p.S637F Missense 20/37 - 1
3-41841727-A-G c.1907T>C p.F636S Missense 20/37 - 1
3-41841734-T-C c.1900A>G p.T634A Missense 20/37 - 1
3-41841736-C-T c.1898G>A p.C633Y Missense 20/37 - 1
3-41841752-T-C c.1882A>G p.I628V Missense 20/37 - 1
3-41841753-T-A c.1881A>T p.K627N Missense 20/37 - 1
3-41841753-T-G c.1881A>C p.K627N Missense 20/37 - 1
3-41841757-G-A c.1877C>T p.A626V Missense 20/37 - 1
3-41841762-C-A c.1872G>T p.M624I Missense 20/37 - 1
3-41841762-C-G c.1872G>C p.M624I Missense 20/37 - 1
3-41841762-C-T c.1872G>A p.M624I Missense 20/37 - 1
3-41841772-A-C c.1862T>G p.V621G Missense 20/37 - 2
3-41841778-C-T c.1856G>A p.R619H Missense 20/37 - 4
3-41841779-G-A c.1855C>T p.R619C Missense 20/37 - 3
3-41841780-C-G c.1854G>C p.E618D Missense 20/37 - 1
3-41841783-T-A c.1851A>T p.E617D Missense 20/37 - 1
3-41841783-T-G c.1851A>C p.E617D Missense 20/37 - 1
3-41841793-G-C c.1849-8C>G - IntronicSNV - 19/36 1
3-41841873-C-T c.1849-88G>A - IntronicSNV - 19/36 1
3-41842129-C-G c.1849-344G>C - IntronicSNV - 19/36 1
3-41842129-C-T c.1849-344G>A - IntronicSNV - 19/36 1
3-41842415-A-G c.1849-630T>C - IntronicSNV - 19/36 1
3-41844975-T-A c.1849-3190A>T - IntronicSNV - 19/36 1
3-41846793-T-A c.1849-5008A>T - IntronicSNV - 19/36 1
3-41846793-T-G c.1849-5008A>C - IntronicSNV - 19/36 1
3-41846852-T-C c.1849-5067A>G - IntronicSNV - 19/36 1
3-41847148-C-G c.1849-5363G>C - IntronicSNV - 19/36 1
3-41847148-C-T c.1849-5363G>A - IntronicSNV - 19/36 1
3-41847154-A-G c.1849-5369T>C - IntronicSNV - 19/36 1
3-41847736-G-T c.1849-5951C>A - IntronicSNV - 19/36 1
3-41858731-C-T c.1848+2184G>A - IntronicSNV - 19/36 1
3-41859973-C-T c.1848+942G>A - IntronicSNV - 19/36 1
3-41860923-G-C c.1840C>G p.R614G Missense 19/37 - 2
3-41860927-G-A c.1836C>T p.C612= Synonymous 19/37 - 1
3-41860933-C-A c.1830G>T p.M610I Missense 19/37 - 1
3-41860933-C-G c.1830G>C p.M610I Missense 19/37 - 1
3-41860933-C-T c.1830G>A p.M610I Missense 19/37 - 1
3-41860937-A-G c.1826T>C p.L609P Missense 19/37 - 1
3-41860948-T-A c.1815A>T p.A605= Synonymous 19/37 - 1
3-41860950-C-G c.1813G>C p.A605P Missense 19/37 - 1
3-41860955-A-G c.1808T>C p.L603S Missense 19/37 - 7
3-41860958-G-A c.1805C>T p.P602L Missense 19/37 - 2
3-41860960-A-G c.1803T>C p.V601= Synonymous 19/37 - 1
3-41860962-C-T c.1801G>A p.V601I Missense 19/37 - 1
3-41860964-G-T c.1799C>A p.A600D Missense 19/37 - 3
3-41860966-C-T c.1797G>A p.W599* Nonsense 19/37 - 3
3-41860970-C-G c.1793G>C p.C598S Missense 19/37 - 4
3-41860972-C-T c.1791G>A p.E597= Synonymous 19/37 - 1
3-41860974-C-A c.1789G>T p.E597* Nonsense 19/37 - 1
3-41860976-CT-TG c.1786_1787delinsCA p.R596Q Missense 19/37 - 1
3-41860978-A-C c.1785T>G p.P595= Synonymous 19/37 - 1
3-41860978-A-G c.1785T>C p.P595= Synonymous 19/37 - 1
3-41860978-A-T c.1785T>A p.P595= Synonymous 19/37 - 1
3-41860979-G-A c.1784C>T p.P595L Missense 19/37 - 1
3-41860981-G-GT c.1781dup p.N594Kfs*3 Frameshift 19/37 - 1
3-41860983-T-TA c.1779_1780insT p.N594* Nonsense 19/37 - 4
3-41860986-T-TA c.1776_1777insT p.K593* Nonsense 19/37 - 7
3-41860984-CTT-C c.1777_1778del p.K593Efs*3 Frameshift 19/37 - 1
3-41860984-C-CT c.1778dup p.N594Efs*3 Frameshift 19/37 - 4
3-41860984-CT-C c.1778del p.K593Rfs*17 Frameshift 19/37 - 14
3-41860995-TC-T c.1768del p.E590Kfs*20 Frameshift 19/37 - 1
3-41860996-T-G c.1767A>C p.E589D Missense 19/37 - 1
3-41860998-C-T c.1765G>A p.E589K Missense 19/37 - 2
3-41861165-A-G c.1765-167T>C - IntronicSNV - 18/36 1
3-41862645-A-G c.1765-1647T>C - IntronicSNV - 18/36 2
3-41862873-A-G c.1765-1875T>C - IntronicSNV - 18/36 1
3-41865355-G-A c.1765-4357C>T - IntronicSNV - 18/36 4
3-41868631-A-C c.1765-7633T>G - IntronicSNV - 18/36 1
3-41868632-C-T c.1765-7634G>A - IntronicSNV - 18/36 1
3-41868721-T-C c.1765-7723A>G - IntronicSNV - 18/36 1
3-41869230-C-A c.1764+8126G>T - IntronicSNV - 18/36 1
3-41871295-G-C c.1764+6061C>G - IntronicSNV - 18/36 1
3-41872277-C-G c.1764+5079G>C - IntronicSNV - 18/36 1
3-41872527-G-A c.1764+4829C>T - IntronicSNV - 18/36 2
3-41872527-G-T c.1764+4829C>A - IntronicSNV - 18/36 2
3-41872877-C-T c.1764+4479G>A - IntronicSNV - 18/36 4
3-41875455-C-A c.1764+1901G>T - IntronicSNV - 18/36 4
3-41877353-C-T c.1764+3G>A - IntronicSNV - 18/36 3
3-41877356-C-A c.1764G>T p.Q588H Missense 18/37 - 1
3-41877358-G-C c.1762C>G p.Q588E Missense 18/37 - 1
3-41877360-G-A c.1760C>T p.T587I Missense 18/37 - 1
3-41877366-A-C c.1754T>G p.V585G Missense 18/37 - 1
3-41877367-C-T c.1753G>A p.V585I Missense 18/37 - 1
3-41877370-G-A c.1750C>T p.L584F Missense 18/37 - 1
3-41877372-T-C c.1748A>G p.Y583C Missense 18/37 - 1
3-41877374-G-A c.1746C>T p.I582= Synonymous 18/37 - 1
3-41877374-G-C c.1746C>G p.I582M Missense 18/37 - 3
3-41877380-C-A c.1740G>T p.E580D Missense 18/37 - 1
3-41877382-C-G c.1738G>C p.E580Q Missense 18/37 - 1
3-41877383-CCC-ACA c.1735_1737delinsTGT p.G579C Missense 18/37 - 1
3-41877383-CC-GT c.1736_1737delinsAC p.G579D Missense 18/37 - 1
3-41877384-C-T c.1736G>A p.G579E Missense 18/37 - 1
3-41877388-G-T c.1732C>A p.L578I Missense 18/37 - 1
3-41877394-G-C c.1726C>G p.P576A Missense 18/37 - 1
3-41877400-G-A c.1720C>T p.L574F Missense 18/37 - 1
3-41877400-G-T c.1720C>A p.L574I Missense 18/37 - 1
3-41877410-T-A c.1710A>T p.L570F Missense 18/37 - 2
3-41877410-T-G c.1710A>C p.L570F Missense 18/37 - 5
3-41877413-T-C c.1707A>G p.K569= Synonymous 18/37 - 1
3-41877414-T-C c.1706A>G p.K569R Missense 18/37 - 57
3-41877416-G-A c.1704C>T p.S568= Synonymous 18/37 - 1
3-41877425-G-A c.1695C>T p.F565= Synonymous 18/37 - 1
3-41877427-A-C c.1693T>G p.F565V Missense 18/37 - 1
3-41877430-T-G c.1690A>C p.N564H Missense 18/37 - 1
3-41877434-C-T c.1686G>A p.R562= Synonymous 18/37 - 1
3-41877436-T-A c.1684A>T p.R562W Missense 18/37 - 1
3-41877435-CTAAT-C c.1681_1684del p.I561Gfs*9 Frameshift 18/37 - 1
3-41877445-C-T c.1675G>A p.E559K Missense 18/37 - 2
3-41877454-G-A c.1666C>T p.L556F Missense 18/37 - 1
3-41877457-C-T c.1663G>A p.V555I Missense 18/37 - 1
3-41877460-T-A c.1660A>T p.I554F Missense 18/37 - 1
3-41877463-C-A c.1657G>T p.A553S Missense 18/37 - 1
3-41877463-C-T c.1657G>A p.A553T Missense 18/37 - 1
3-41877471-G-A c.1657-8C>T - IntronicSNV - 17/36 1
3-41877471-G-T c.1657-8C>A - IntronicSNV - 17/36 1
3-41879323-G-A c.1657-1860C>T - IntronicSNV - 17/36 1
3-41882716-C-A c.1657-5253G>T - IntronicSNV - 17/36 1
3-41882716-C-G c.1657-5253G>C - IntronicSNV - 17/36 1
3-41882716-C-T c.1657-5253G>A - IntronicSNV - 17/36 1
3-41883692-G-A c.1657-6229C>T - IntronicSNV - 17/36 2
3-41885588-G-A c.1657-8125C>T - IntronicSNV - 17/36 1
3-41885721-G-A c.1657-8258C>T - IntronicSNV - 17/36 1
3-41894440-T-C c.1657-16977A>G - IntronicSNV - 17/36 1
3-41897482-G-A c.1657-20019C>T - IntronicSNV - 17/36 1
3-41898004-A-T c.1657-20541T>A - IntronicSNV - 17/36 1
3-41900951-C-A c.1657-23488G>T - IntronicSNV - 17/36 1
3-41901760-G-A c.1656+23606C>T - IntronicSNV - 17/36 1
3-41902841-C-G c.1656+22525G>C - IntronicSNV - 17/36 1
3-41902861-G-C c.1656+22505C>G - IntronicSNV - 17/36 1
3-41903191-G-A c.1656+22175C>T - IntronicSNV - 17/36 1
3-41907183-G-A c.1656+18183C>T - IntronicSNV - 17/36 1
3-41910571-T-C c.1656+14795A>G - IntronicSNV - 17/36 2
3-41910571-T-G c.1656+14795A>C - IntronicSNV - 17/36 2
3-41910645-GT-G c.1656+14720del - IntronicDeletion - 17/36 1
3-41911264-G-A c.1656+14102C>T - IntronicSNV - 17/36 1
3-41912651-G-A c.1656+12715C>T - IntronicSNV - 17/36 27
3-41912651-G-T c.1656+12715C>A - IntronicSNV - 17/36 27
3-41915616-A-C c.1656+9750T>G - IntronicSNV - 17/36 2
3-41920335-C-T c.1656+5031G>A - IntronicSNV - 17/36 1
3-41921927-C-T c.1656+3439G>A - IntronicSNV - 17/36 1
3-41923514-GA-G c.1656+1852del - IntronicDeletion - 17/36 2
3-41923516-GGCCA-G c.1656+1847_1656+1850del - IntronicDeletion - 17/36 2
3-41923519-A-G c.1656+1847T>C - IntronicSNV - 17/36 1
3-41923872-T-A c.1656+1494A>T - IntronicSNV - 17/36 1
3-41923872-T-C c.1656+1494A>G - IntronicSNV - 17/36 2
3-41925260-CAGAGAAAAAACAAGTGA-C c.1656+89_1656+105del - IntronicDeletion - 17/36 1
3-41925301-T-C c.1656+65A>G - IntronicSNV - 17/36 5
3-41925374-C-T c.1648G>A p.V550I Missense 17/37 - 2
3-41925376-G-T c.1646C>A p.P549H Missense 17/37 - 1
3-41925387-C-T c.1635G>A p.Q545= Synonymous 17/37 - 1
3-41925388-T-C c.1634A>G p.Q545R Missense 17/37 - 1
3-41925389-G-A c.1633C>T p.Q545* Nonsense 17/37 - 1
3-41925392-G-T c.1630C>A p.L544I Missense 17/37 - 1
3-41925395-C-T c.1627G>A p.E543K Missense 17/37 - 1
3-41925396-A-C c.1626T>G p.A542= Synonymous 17/37 - 1
3-41925396-A-G c.1626T>C p.A542= Synonymous 17/37 - 1
3-41925396-A-T c.1626T>A p.A542= Synonymous 17/37 - 1
3-41925398-C-G c.1624G>C p.A542P Missense 17/37 - 35
3-41925398-C-T c.1624G>A p.A542T Missense 17/37 - 68
3-41925401-T-C c.1621A>G p.T541A Missense 17/37 - 1
3-41925406-G-A c.1616C>T p.S539L Missense 17/37 - 3
3-41925415-AA-TG c.1606_1607delinsCA p.L536Q Missense 17/37 - 1
3-41925423-T-A c.1599A>T p.V533= Synonymous 17/37 - 20
3-41925423-T-C c.1599A>G p.V533= Synonymous 17/37 - 23
3-41925423-T-G c.1599A>C p.V533= Synonymous 17/37 - 20
3-41925425-C-T c.1597G>A p.V533I Missense 17/37 - 2
3-41925426-G-A c.1596C>T p.H532= Synonymous 17/37 - 1
3-41925429-A-C c.1593T>G p.A531= Synonymous 17/37 - 1
3-41925429-A-G c.1593T>C p.A531= Synonymous 17/37 - 1
3-41925429-A-T c.1593T>A p.A531= Synonymous 17/37 - 1
3-41925435-C-T c.1587G>A p.K529= Synonymous 17/37 - 1
3-41925442-C-A c.1580G>T p.R527L Missense 17/37 - 1
3-41925443-G-A c.1579C>T p.R527W Missense 17/37 - 2
3-41926021-A-G c.1578-577T>C - IntronicSNV - 16/36 1
3-41936827-G-A c.1577+183C>T - IntronicSNV - 16/36 1
3-41936827-G-C c.1577+183C>G - IntronicSNV - 16/36 1
3-41937000-C-T c.1577+10G>A - IntronicSNV - 16/36 9
3-41937016-C-A c.1571G>T p.W524L Missense 16/37 - 1
3-41937022-G-A c.1565C>T p.P522L Missense 16/37 - 1
3-41937023-G-A c.1564C>T p.P522S Missense 16/37 - 2
3-41937027-T-A c.1560A>T p.I520= Synonymous 16/37 - 1
3-41937027-T-G c.1560A>C p.I520= Synonymous 16/37 - 1
3-41937742-T-C c.1530+572A>G - IntronicSNV - 15/36 1
3-41937741-CT-C c.1530+572del - IntronicDeletion - 15/36 1
3-41938315-A-AT c.1528_1529insA p.L510Hfs*34 SpliceDonorInsertion 15/37 - 1
3-41938315-A-G c.1529T>C p.L510P Missense 15/37 - 1
3-41938315-A-AG c.1528dup p.L510Pfs*34 SpliceDonorInsertion 15/37 - 2
3-41938315-AG-A c.1528del p.L510Cfs*5 Frameshift 15/37 - 2
3-41938321-GA-TT c.1522_1523delinsAA p.S508N Missense 15/37 - 1
3-41938330-A-C c.1514T>G p.L505R Missense 15/37 - 1
3-41938334-T-A c.1510A>T p.R504W Missense 15/37 - 1
3-41938348-T-G c.1496A>C p.Q499P Missense 15/37 - 1
3-41938349-G-T c.1495C>A p.Q499K Missense 15/37 - 1
3-41938356-A-C c.1488T>G p.A496= Synonymous 15/37 - 2
3-41938356-A-G c.1488T>C p.A496= Synonymous 15/37 - 2
3-41938356-A-T c.1488T>A p.A496= Synonymous 15/37 - 2
3-41938357-G-A c.1487C>T p.A496V Missense 15/37 - 2
3-41938358-C-A c.1486G>T p.A496S Missense 15/37 - 1
3-41938363-A-G c.1481T>C p.V494A Missense 15/37 - 2
3-41938364-C-T c.1480G>A p.V494M Missense 15/37 - 1
3-41938365-G-A c.1479C>T p.C493= Synonymous 15/37 - 1
3-41938366-C-T c.1478G>A p.C493Y Missense 15/37 - 1
3-41938372-T-C c.1472A>G p.Y491C Missense 15/37 - 1
3-41938373-A-G c.1471T>C p.Y491H Missense 15/37 - 1
3-41938375-C-A c.1469G>T p.C490F Missense 15/37 - 1
3-41938379-G-A c.1465C>T p.L489F Missense 15/37 - 1
3-41938380-G-A c.1464C>T p.L488= Synonymous 15/37 - 1
3-41938380-G-C c.1464C>G p.L488= Synonymous 15/37 - 1
3-41938380-G-T c.1464C>A p.L488= Synonymous 15/37 - 1
3-41938394-C-T c.1450G>A p.A484T Missense 15/37 - 1
3-41938395-TC-AT c.1448_1449delinsAT p.R483H Missense 15/37 - 1
3-41938397-G-A c.1447C>T p.R483* Nonsense 15/37 - 4
3-41938399-GA-AT c.1444_1445delinsAT p.S482I Missense 15/37 - 1
3-41938403-C-T c.1441G>A p.A481T Missense 15/37 - 1
3-41938410-G-T c.1434C>A p.S478R Missense 15/37 - 1
3-41938415-T-C c.1429A>G p.K477E Missense 15/37 - 1
3-41938423-GA-AT c.1420_1421delinsAT p.S474I Missense 15/37 - 1
3-41938426-T-C c.1418A>G p.D473G Missense 15/37 - 1
3-41938431-C-T c.1413G>A p.Q471= Synonymous 15/37 - 1
3-41938434-C-T c.1410G>A p.S470= Synonymous 15/37 - 1
3-41938435-G-A c.1409C>T p.S470L Missense 15/37 - 7
3-41938444-T-C c.1400A>G p.Q467R Missense 15/37 - 1
3-41938445-G-C c.1399C>G p.Q467E Missense 15/37 - 1
3-41938447-T-G c.1397A>C p.Q466P Missense 15/37 - 1
3-41938450-A-T c.1394T>A p.L465* Nonsense 15/37 - 1
3-41938454-A-C c.1390T>G p.F464V Missense 15/37 - 1
3-41938460-T-G c.1384A>C p.N462H Missense 15/37 - 1
3-41938469-G-C c.1375C>G p.Q459E Missense 15/37 - 5
3-41938475-T-A c.1369A>T p.K457* Nonsense 15/37 - 1
3-41938477-A-G c.1367T>C p.L456P Missense 15/37 - 1
3-41938484-A-G c.1360T>C p.L454= Synonymous 15/37 - 1
3-41938500-G-C c.1349-5C>G - IntronicSNV - 14/36 10
3-41938522-T-A c.1349-27A>T - IntronicSNV - 14/36 1
3-41939699-C-A c.1348+225G>T - IntronicSNV - 14/36 1
3-41939781-G-A c.1348+143C>T - IntronicSNV - 14/36 1
3-41939781-G-C c.1348+143C>G - IntronicSNV - 14/36 1
3-41939854-G-A c.1348+70C>T - IntronicSNV - 14/36 1
3-41939920-C-T c.1348+4G>A - IntronicSNV - 14/36 1
3-41939926-G-A c.1346C>T p.S449L Missense 14/37 - 2
3-41939929-T-A c.1343A>T p.Y448F Missense 14/37 - 3
3-41939933-T-C c.1339A>G p.T447A Missense 14/37 - 3
3-41939935-G-A c.1337C>T p.P446L Missense 14/37 - 1
3-41939938-A-G c.1334T>C p.L445P Missense 14/37 - 2
3-41939943-C-T c.1329G>A p.L443= Synonymous 14/37 - 1
3-41939945-A-G c.1327T>C p.L443= Synonymous 14/37 - 1
3-41939948-T-C c.1324A>G p.I442V Missense 14/37 - 1
3-41939949-T-A c.1323A>T p.K441N Missense 14/37 - 2
3-41939949-T-G c.1323A>C p.K441N Missense 14/37 - 1
3-41939950-T-G c.1322A>C p.K441T Missense 14/37 - 1
3-41939954-C-T c.1318G>A p.A440T Missense 14/37 - 1
3-41939956-T-A c.1316A>T p.D439V Missense 14/37 - 1
3-41939964-AAC-CAT c.1306_1308delinsATG p.V436M Missense 14/37 - 1
3-41939968-G-A c.1304C>T p.P435L Missense 14/37 - 1
3-41939973-C-T c.1299G>A p.Q433= Synonymous 14/37 - 1
3-41939982-T-A c.1290A>T p.I430= Synonymous 14/37 - 1
3-41939982-T-G c.1290A>C p.I430= Synonymous 14/37 - 1
3-41939989-G-A c.1288-5C>T - IntronicSNV - 13/36 1
3-41939989-G-T c.1288-5C>A - IntronicSNV - 13/36 1
3-41939992-T-TA c.1288-9_1288-8insT - IntronicInsertion - 13/36 1
3-41939993-T-A c.1288-9A>T - IntronicSNV - 13/36 9
3-41939993-T-G c.1288-9A>C - IntronicSNV - 13/36 9
3-41940590-G-A c.1288-606C>T - IntronicSNV - 13/36 1
3-41941268-C-T c.1287+949G>A - IntronicSNV - 13/36 1
3-41942199-T-A c.1287+18A>T - IntronicSNV - 13/36 3
3-41942199-T-C c.1287+18A>G - IntronicSNV - 13/36 5
3-41942211-C-T c.1287+6G>A - IntronicSNV - 13/36 1
3-41942218-T-C c.1286A>G p.K429R Missense 13/37 - 1
3-41942228-C-A c.1276G>T p.D426Y Missense 13/37 - 1
3-41942228-C-T c.1276G>A p.D426N Missense 13/37 - 1
3-41942229-G-A c.1275C>T p.I425= Synonymous 13/37 - 5
3-41942229-G-T c.1275C>A p.I425= Synonymous 13/37 - 2
3-41942230-A-G c.1274T>C p.I425T Missense 13/37 - 1
3-41942238-GG-CA c.1265_1266delinsTG p.T422M Missense 13/37 - 1
3-41942241-G-A c.1263C>T p.V421= Synonymous 13/37 - 3
3-41942241-G-C c.1263C>G p.V421= Synonymous 13/37 - 2
3-41942241-G-T c.1263C>A p.V421= Synonymous 13/37 - 2
3-41942255-A-G c.1249T>C p.S417P Missense 13/37 - 9
3-41942257-T-C c.1247A>G p.D416G Missense 13/37 - 2
3-41942257-T-G c.1247A>C p.D416A Missense 13/37 - 1
3-41942258-C-T c.1246G>A p.D416N Missense 13/37 - 6
3-41942260-G-A c.1244C>T p.T415M Missense 13/37 - 1
3-41942261-T-G c.1243A>C p.T415P Missense 13/37 - 1
3-41942262-G-A c.1242C>T p.Y414= Synonymous 13/37 - 1
3-41942263-T-A c.1241A>T p.Y414F Missense 13/37 - 1
3-41942265-G-A c.1239C>T p.I413= Synonymous 13/37 - 3
3-41942265-G-T c.1239C>A p.I413= Synonymous 13/37 - 2
3-41942279-T-A c.1225A>T p.M409L Missense 13/37 - 2
3-41942279-T-G c.1225A>C p.M409L Missense 13/37 - 2
3-41942280-C-A c.1224G>T p.Q408H Missense 13/37 - 2
3-41942280-C-G c.1224G>C p.Q408H Missense 13/37 - 2
3-41942284-G-A c.1220C>T p.S407F Missense 13/37 - 1
3-41942292-G-C c.1212C>G p.D404E Missense 13/37 - 1
3-41942292-G-T c.1212C>A p.D404E Missense 13/37 - 2
3-41942297-G-C c.1207C>G p.Q403E Missense 13/37 - 1
3-41942300-G-A c.1204C>T p.Q402* Nonsense 13/37 - 1
3-41942304-C-A c.1200G>T p.L400= Synonymous 13/37 - 1
3-41942304-C-G c.1200G>C p.L400= Synonymous 13/37 - 1
3-41942304-C-T c.1200G>A p.L400= Synonymous 13/37 - 1
3-41942306-G-A c.1198C>T p.L400= Synonymous 13/37 - 1
3-41942307-G-T c.1197C>A p.H399Q Missense 13/37 - 1
3-41942309-G-A c.1195C>T p.H399Y Missense 13/37 - 1
3-41942318-T-C c.1186A>G p.T396A Missense 13/37 - 1
3-41942498-T-A c.1183-177A>T - IntronicSNV - 12/36 1
3-41942947-C-G c.1183-626G>C - IntronicSNV - 12/36 1
3-41942947-C-T c.1183-626G>A - IntronicSNV - 12/36 1
3-41949129-C-T c.1182+208G>A - IntronicSNV - 12/36 1
3-41949301-T-C c.1182+36A>G - IntronicSNV - 12/36 1
3-41949337-C-A c.1182G>T p.K394N Missense 12/37 - 1
3-41949337-C-T c.1182G>A p.K394= Synonymous 12/37 - 1
3-41949345-G-C c.1174C>G p.L392V Missense 12/37 - 3
3-41949347-G-C c.1172C>G p.P391R Missense 12/37 - 3
3-41949348-G-A c.1171C>T p.P391S Missense 12/37 - 8
3-41949349-A-T c.1170T>A p.S390= Synonymous 12/37 - 1
3-41949368-C-T c.1151G>A p.C384Y Missense 12/37 - 3
3-41949370-G-A c.1149C>T p.H383= Synonymous 12/37 - 1
3-41949372-G-A c.1147C>T p.H383Y Missense 12/37 - 1
3-41949373-A-C c.1146T>G p.T382= Synonymous 12/37 - 1
3-41949373-A-G c.1146T>C p.T382= Synonymous 12/37 - 2
3-41949373-AG-CA c.1145_1146delinsTG p.T382M Missense 12/37 - 1
3-41949373-A-T c.1146T>A p.T382= Synonymous 12/37 - 1
3-41949374-G-A c.1145C>T p.T382I Missense 12/37 - 3
3-41949376-C-A c.1143G>T p.M381I Missense 12/37 - 1
3-41949376-C-G c.1143G>C p.M381I Missense 12/37 - 1
3-41949376-C-T c.1143G>A p.M381I Missense 12/37 - 1
3-41949379-A-G c.1140T>C p.D380= Synonymous 12/37 - 1
3-41949384-C-T c.1135G>A p.E379K Missense 12/37 - 1
3-41949385-AC-CT c.1133_1134delinsAG p.G378E Missense 12/37 - 1
3-41949385-ACC-TCA c.1132_1134delinsTGA p.G378* Nonsense 12/37 - 1
3-41949386-C-G c.1133G>C p.G378A Missense 12/37 - 1
3-41949391-A-G c.1128T>C p.S376= Synonymous 12/37 - 1
3-41949394-TAC-CAT c.1123_1125delinsATG p.V375M Missense 12/37 - 1
3-41949399-C-T c.1120G>A p.E374K Missense 12/37 - 1
3-41949403-T-A c.1116A>T p.A372= Synonymous 12/37 - 1
3-41949403-T-C c.1116A>G p.A372= Synonymous 12/37 - 1
3-41949403-T-G c.1116A>C p.A372= Synonymous 12/37 - 1
3-41949406-A-T c.1113T>A p.T371= Synonymous 12/37 - 1
3-41949415-TCT-ACA c.1102_1104delinsTGT p.R368C Missense 12/37 - 1
3-41949419-G-A c.1100C>T p.P367L Missense 12/37 - 5
3-41949421-A-C c.1098T>G p.T366= Synonymous 12/37 - 1
3-41949421-A-G c.1098T>C p.T366= Synonymous 12/37 - 1
3-41949421-A-T c.1098T>A p.T366= Synonymous 12/37 - 1
3-41949422-G-A c.1097C>T p.T366I Missense 12/37 - 2
3-41949425-G-T c.1094C>A p.P365H Missense 12/37 - 1
3-41949426-G-A c.1093C>T p.P365S Missense 12/37 - 2
3-41949426-G-T c.1093C>A p.P365T Missense 12/37 - 1
3-41949428-C-A c.1091G>T p.R364L Missense 12/37 - 2
3-41949428-C-T c.1091G>A p.R364H Missense 12/37 - 1
3-41949429-G-A c.1090C>T p.R364C Missense 12/37 - 3
3-41949431-G-C c.1088C>G p.S363C Missense 12/37 - 1
3-41949431-G-T c.1088C>A p.S363Y Missense 12/37 - 1
3-41949479-A-G c.1086-46T>C - IntronicSNV - 11/36 3
3-41949569-G-C c.1086-136C>G - IntronicSNV - 11/36 2
3-41949569-G-T c.1086-136C>A - IntronicSNV - 11/36 2
3-41952539-T-A c.1085+270A>T - IntronicSNV - 11/36 1
3-41952540-T-A c.1085+269A>T - IntronicSNV - 11/36 1
3-41952779-C-A c.1085+30G>T - IntronicSNV - 11/36 1
3-41952781-C-T c.1085+28G>A - IntronicSNV - 11/36 8
3-41952818-A-G c.1076T>C p.F359S Missense 11/37 - 1
3-41952820-C-A c.1074G>T p.M358I Missense 11/37 - 2
3-41952820-C-G c.1074G>C p.M358I Missense 11/37 - 3
3-41952820-C-T c.1074G>A p.M358I Missense 11/37 - 2
3-41952822-T-C c.1072A>G p.M358V Missense 11/37 - 1
3-41952823-G-T c.1071C>A p.S357= Synonymous 11/37 - 1
3-41952824-G-C c.1070C>G p.S357C Missense 11/37 - 1
3-41952824-G-T c.1070C>A p.S357Y Missense 11/37 - 1
3-41952826-T-G c.1068A>C p.E356D Missense 11/37 - 1
3-41952833-A-T c.1061T>A p.L354* Nonsense 11/37 - 1
3-41952835-T-C c.1059A>G p.Q353= Synonymous 11/37 - 1
3-41952837-G-A c.1057C>T p.Q353* Nonsense 11/37 - 3
3-41952838-A-C c.1056T>G p.G352= Synonymous 11/37 - 1
3-41952838-A-G c.1056T>C p.G352= Synonymous 11/37 - 5
3-41952838-A-T c.1056T>A p.G352= Synonymous 11/37 - 1
3-41952840-C-A c.1054G>T p.G352C Missense 11/37 - 1
3-41952843-C-G c.1051G>C p.E351Q Missense 11/37 - 1
3-41952843-C-T c.1051G>A p.E351K Missense 11/37 - 1
3-41952843-C-CA c.1050dup p.E351* Nonsense 11/37 - 1
3-41952847-A-G c.1047T>C p.T349= Synonymous 11/37 - 2
3-41952850-A-G c.1044T>C p.S348= Synonymous 11/37 - 1
3-41952851-C-A c.1043G>T p.S348I Missense 11/37 - 2
3-41952852-T-C c.1042A>G p.S348G Missense 11/37 - 29
3-41952852-T-G c.1042A>C p.S348R Missense 11/37 - 2
3-41952853-C-T c.1041G>A p.K347= Synonymous 11/37 - 1
3-41952858-G-A c.1036C>T p.P346S Missense 11/37 - 1
3-41952860-C-T c.1034G>A p.R345Q Missense 11/37 - 2
3-41952859-C-A c.1035G>T p.R345= Synonymous 11/37 - 1
3-41952859-C-G c.1035G>C p.R345= Synonymous 11/37 - 1
3-41952859-C-T c.1035G>A p.R345= Synonymous 11/37 - 1
3-41952861-G-T c.1033C>A p.R345= Synonymous 11/37 - 1
3-41952865-C-A c.1029G>T p.E343D Missense 11/37 - 1
3-41952865-C-G c.1029G>C p.E343D Missense 11/37 - 1
3-41952869-G-A c.1025C>T p.T342I Missense 11/37 - 1
3-41952871-T-A c.1023A>T p.P341= Synonymous 11/37 - 1
3-41952871-T-C c.1023A>G p.P341= Synonymous 11/37 - 1
3-41952871-T-G c.1023A>C p.P341= Synonymous 11/37 - 1
3-41952872-G-A c.1022C>T p.P341L Missense 11/37 - 1
3-41952873-G-T c.1021C>A p.P341T Missense 11/37 - 1
3-41952898-T-C c.1016-20A>G - IntronicSNV - 10/36 1
3-41953033-C-A c.1015G>T p.E339* Nonsense 10/37 - 2
3-41953035-A-G c.1013T>C p.L338P Missense 10/37 - 1
3-41953040-G-A c.1008C>T p.F336= Synonymous 10/37 - 1
3-41953043-A-G c.1005T>C p.S335= Synonymous 10/37 - 1
3-41953044-GA-AG c.1003_1004delinsCT p.S335L Missense 10/37 - 1
3-41953044-G-T c.1004C>A p.S335Y Missense 10/37 - 1
3-41953046-G-C c.1002C>G p.H334Q Missense 10/37 - 1
3-41953046-G-T c.1002C>A p.H334Q Missense 10/37 - 1
3-41953048-G-A c.1000C>T p.H334Y Missense 10/37 - 1
3-41953050-C-T c.998G>A p.G333D Missense 10/37 - 3
3-41953060-G-T c.988C>A p.Q330K Missense 10/37 - 1
3-41953063-C-A c.985G>T p.G329C Missense 10/37 - 1
3-41953064-A-G c.984T>C p.S328= Synonymous 10/37 - 1
3-41953070-G-C c.978C>G p.H326Q Missense 10/37 - 1
3-41953070-G-T c.978C>A p.H326Q Missense 10/37 - 2
3-41953071-T-C c.977A>G p.H326R Missense 10/37 - 2
3-41953075-CCTT-C c.971_973del p.K324_G325delinsR MultiAAMissense 10/37 - 1
3-41953077-T-G c.971A>C p.K324T Missense 10/37 - 7
3-41953083-T-G c.965A>C p.Q322P Missense 10/37 - 1
3-41953085-TCT-ATG c.961_963delinsCAT p.R321H Missense 10/37 - 1
3-41953093-G-C c.955C>G p.Q319E Missense 10/37 - 1
3-41953095-G-T c.953C>A p.S318Y Missense 10/37 - 2
3-41953100-C-A c.948G>T p.Q316H Missense 10/37 - 1
3-41953100-C-G c.948G>C p.Q316H Missense 10/37 - 1
3-41953104-A-T c.944T>A p.L315* Nonsense 10/37 - 2
3-41953111-C-T c.937G>A p.E313K Missense 10/37 - 1
3-41953115-G-T c.933C>A p.S311= Synonymous 10/37 - 1
3-41953116-G-C c.932C>G p.S311C Missense 10/37 - 1
3-41953120-C-T c.928G>A p.D310N Missense 10/37 - 3
3-41953121-T-C c.927A>G p.Q309= Synonymous 10/37 - 1
3-41953122-T-C c.926A>G p.Q309R Missense 10/37 - 1
3-41953125-G-A c.923C>T p.P308L Missense 10/37 - 1
3-41953134-C-A c.914G>T p.C305F Missense 10/37 - 1
3-41953134-C-T c.914G>A p.C305Y Missense 10/37 - 2
3-41953135-A-G c.913T>C p.C305R Missense 10/37 - 1
3-41953140-A-G c.908T>C p.M303T Missense 10/37 - 1
3-41953141-T-G c.907A>C p.M303L Missense 10/37 - 1
3-41953145-G-A c.903C>T p.N301= Synonymous 10/37 - 2
3-41953149-C-A c.899G>T p.R300I Missense 10/37 - 5
3-41953151-G-T c.897C>A p.S299R Missense 10/37 - 1
3-41953155-T-C c.897-4A>G - IntronicSNV - 9/36 1
3-41953332-C-T c.897-181G>A - IntronicSNV - 9/36 2
3-41954162-C-T c.896+137G>A - IntronicSNV - 9/36 1
3-41954304-GACT-G c.889_891del p.S297del InFrameDeletion 9/37 - 1
3-41954312-C-A c.883G>T p.D295Y Missense 9/37 - 2
3-41954315-C-T c.880G>A p.E294K Missense 9/37 - 1
3-41954319-G-A c.876C>T p.S292= Synonymous 9/37 - 1
3-41954322-T-A c.873A>T p.S291= Synonymous 9/37 - 1
3-41954322-T-C c.873A>G p.S291= Synonymous 9/37 - 1
3-41954322-T-G c.873A>C p.S291= Synonymous 9/37 - 1
3-41954323-G-C c.872C>G p.S291* Nonsense 9/37 - 1
3-41954323-G-T c.872C>A p.S291* Nonsense 9/37 - 1
3-41954327-C-A c.868G>T p.E290* Nonsense 9/37 - 1
3-41954327-C-T c.868G>A p.E290K Missense 9/37 - 1
3-41954328-C-A c.867G>T p.Q289H Missense 9/37 - 1
3-41954328-C-G c.867G>C p.Q289H Missense 9/37 - 1
3-41954342-C-G c.853G>C p.A285P Missense 9/37 - 1
3-41954347-G-A c.848C>T p.A283V Missense 9/37 - 4
3-41954353-T-C c.842A>G p.K281R Missense 9/37 - 1
3-41954357-A-T c.838T>A p.W280R Missense 9/37 - 1
3-41954366-G-C c.829C>G p.H277D Missense 9/37 - 1
3-41954377-C-T c.818G>A p.R273K Missense 9/37 - 2
3-41954379-T-A c.816A>T p.T272= Synonymous 9/37 - 1
3-41954379-T-C c.816A>G p.T272= Synonymous 9/37 - 1
3-41954379-T-G c.816A>C p.T272= Synonymous 9/37 - 1
3-41954380-G-C c.815C>G p.T272R Missense 9/37 - 1
3-41954388-C-A c.807G>T p.L269F Missense 9/37 - 1
3-41954391-T-A c.804A>T p.R268S Missense 9/37 - 1
3-41954391-T-G c.804A>C p.R268S Missense 9/37 - 1
3-41954587-G-A c.804-196C>T - IntronicSNV - 8/36 1
3-41954588-C-G c.804-197G>C - IntronicSNV - 8/36 1
3-41954588-C-T c.804-197G>A - IntronicSNV - 8/36 1
3-41957165-C-G c.803+304G>C - IntronicSNV - 8/36 1
3-41957165-C-T c.803+304G>A - IntronicSNV - 8/36 2
3-41957466-T-A c.803+3A>T - IntronicSNV - 8/36 9
3-41957466-T-G c.803+3A>C - IntronicSNV - 8/36 14
3-41957472-T-C c.800A>G p.K267R Missense 8/37 - 3
3-41957474-C-A c.798G>T p.Q266H Missense 8/37 - 1
3-41957476-G-C c.796C>G p.Q266E Missense 8/37 - 1
3-41957478-G-T c.794C>A p.P265H Missense 8/37 - 1
3-41957483-TCT-ATG c.787_789delinsCAT p.R263H Missense 8/37 - 1
3-41957485-T-A c.787A>T p.R263* Nonsense 8/37 - 1
3-41957495-C-T c.777G>A p.G259= Synonymous 8/37 - 1
3-41957496-C-G c.776G>C p.G259A Missense 8/37 - 1
3-41957497-C-G c.775G>C p.G259R Missense 8/37 - 1
3-41957497-C-T c.775G>A p.G259R Missense 8/37 - 1
3-41957512-T-G c.760A>C p.I254L Missense 8/37 - 1
3-41957518-C-G c.754G>C p.D252H Missense 8/37 - 2
3-41957520-GA-CT c.751_752delinsAG p.S251R Missense 8/37 - 1
3-41957524-A-G c.748T>C p.S250P Missense 8/37 - 1
3-41957526-G-A c.746C>T p.A249V Missense 8/37 - 1
3-41957532-G-A c.740C>T p.P247L Missense 8/37 - 1
3-41957535-C-T c.737G>A p.R246H Missense 8/37 - 2
3-41957538-G-A c.734C>T p.S245F Missense 8/37 - 1
3-41957538-GA-CC c.733_734delinsGG p.S245G Missense 8/37 - 1
3-41957541-G-A c.731C>T p.S244F Missense 8/37 - 5
3-41957541-GA-AG c.730_731delinsCT p.S244L Missense 8/37 - 1
3-41958895-T-C c.727+1054A>G - IntronicSNV - 7/36 2
3-41959953-C-T c.723G>A p.P241= Synonymous 7/37 - 1
3-41959954-G-A c.722C>T p.P241L Missense 7/37 - 1
3-41959954-G-C c.722C>G p.P241R Missense 7/37 - 3
3-41959954-G-T c.722C>A p.P241Q Missense 7/37 - 1
3-41959956-A-G c.720T>C p.I240= Synonymous 7/37 - 1
3-41959956-A-T c.720T>A p.I240= Synonymous 7/37 - 1
3-41959964-G-A c.712C>T p.P238S Missense 7/37 - 1
3-41959967-A-C c.709T>G p.L237V Missense 7/37 - 1
3-41959969-G-A c.707C>T p.P236L Missense 7/37 - 1
3-41959969-G-T c.707C>A p.P236H Missense 7/37 - 2
3-41959970-G-T c.706C>A p.P236T Missense 7/37 - 1
3-41959972-T-G c.704A>C p.D235A Missense 7/37 - 1
3-41959974-T-A c.702A>T p.E234D Missense 7/37 - 1
3-41959974-T-G c.702A>C p.E234D Missense 7/37 - 1
3-41959975-T-G c.701A>C p.E234A Missense 7/37 - 1
3-41959977-A-G c.699T>C p.C233= Synonymous 7/37 - 1
3-41959979-A-G c.697T>C p.C233R Missense 7/37 - 1
3-41959980-T-C c.696A>G p.L232= Synonymous 7/37 - 1
3-41959982-A-G c.694T>C p.L232= Synonymous 7/37 - 1
3-41959985-T-C c.691A>G p.I231V Missense 7/37 - 1
3-41959986-C-A c.690G>T p.K230N Missense 7/37 - 1
3-41959986-C-G c.690G>C p.K230N Missense 7/37 - 1
3-41959991-C-T c.685G>A p.E229K Missense 7/37 - 1
3-41959992-A-C c.684T>G p.T228= Synonymous 7/37 - 1
3-41959992-A-G c.684T>C p.T228= Synonymous 7/37 - 1
3-41959992-A-T c.684T>A p.T228= Synonymous 7/37 - 1
3-41960000-C-T c.676G>A p.E226K Missense 7/37 - 1
3-41960004-A-G c.672T>C p.I224= Synonymous 7/37 - 4
3-41960004-A-T c.672T>A p.I224= Synonymous 7/37 - 2
3-41960006-T-A c.670A>G p.I224V Missense 7/37 - 1
3-41960006-T-C c.670A>G p.I224V Missense 7/37 - 51
3-41960007-A-C c.669T>G p.S223R Missense 7/37 - 1
3-41960007-A-T c.669T>A p.S223R Missense 7/37 - 1
3-41960008-C-A c.668G>T p.S223I Missense 7/37 - 2
3-41960008-C-T c.668G>A p.S223N Missense 7/37 - 3
3-41960009-T-G c.667A>C p.S223R Missense 7/37 - 2
3-41960014-G-A c.662C>T p.S221L Missense 7/37 - 1
3-41960019-G-T c.657C>A p.F219L Missense 7/37 - 1
3-41960027-G-A c.649C>T p.P217S Missense 7/37 - 1
3-41960027-G-C c.649C>G p.P217A Missense 7/37 - 1
3-41960030-T-C c.646A>G p.K216E Missense 7/37 - 1
3-41960180-G-A c.644-148C>T - IntronicSNV - 6/36 1
3-41960180-G-C c.644-148C>G - IntronicSNV - 6/36 1
3-41961168-T-C c.643+41A>G - IntronicSNV - 6/36 7
3-41961208-C-T c.643+1G>A - IntronicSNV - 6/36 1
3-41961209-C-G c.643G>C p.G215R Missense 6/37 - 1
3-41961209-C-T c.643G>A p.G215R Missense 6/37 - 1
3-41961211-G-T c.641C>A p.S214* Nonsense 6/37 - 1
3-41961228-C-A c.624G>T p.L208= Synonymous 6/37 - 2
3-41961228-C-G c.624G>C p.L208= Synonymous 6/37 - 2
3-41961228-C-T c.624G>A p.L208= Synonymous 6/37 - 2
3-41961230-G-A c.622C>T p.L208= Synonymous 6/37 - 2
3-41961231-A-G c.621T>C p.C207= Synonymous 6/37 - 1
3-41961231-ACAGCCCAAAGAC-A c.609_620del p.W203_G206del InFrameDeletion 6/37 - 3
3-41961236-C-G c.616G>C p.G206R Missense 6/37 - 1
3-41961234-GC-G c.617del p.G206Afs*22 Frameshift 6/37 - 1
3-41961237-C-A c.615G>T p.L205F Missense 6/37 - 1
3-41961237-C-G c.615G>C p.L205F Missense 6/37 - 1
3-41961238-A-G c.614T>C p.L205S Missense 6/37 - 4
3-41961249-G-A c.603C>T p.D201= Synonymous 6/37 - 3
3-41961249-G-C c.603C>G p.D201E Missense 6/37 - 1
3-41961249-G-T c.603C>A p.D201E Missense 6/37 - 1
3-41961251-C-T c.601G>A p.D201N Missense 6/37 - 1
3-41961252-A-G c.600T>C p.S200= Synonymous 6/37 - 1
3-41961260-T-C c.592A>G p.I198V Missense 6/37 - 1
3-41961262-G-A c.590C>T p.S197F Missense 6/37 - 2
3-41961272-C-A c.580G>T p.A194S Missense 6/37 - 1
3-41961276-C-A c.576G>T p.R192S Missense 6/37 - 1
3-41961276-C-G c.576G>C p.R192S Missense 6/37 - 1
3-41961277-CT-TA c.574_575delinsTA p.R192* Nonsense 6/37 - 1
3-41961280-A-G c.572T>C p.V191A Missense 6/37 - 1
3-41961285-T-C c.567A>G p.E189= Synonymous 6/37 - 1
3-41961287-C-A c.565G>T p.E189* Nonsense 6/37 - 1
3-41961293-C-A c.559G>T p.A187S Missense 6/37 - 1
3-41961295-G-A c.557C>T p.T186I Missense 6/37 - 1
3-41961302-C-T c.550G>A p.V184I Missense 6/37 - 1
3-41961304-G-A c.548C>T p.P183L Missense 6/37 - 2
3-41961305-G-A c.547C>T p.P183S Missense 6/37 - 4
3-41961322-G-A c.542-12C>T - IntronicSNV - 5/36 1
3-41964648-A-G c.542-3338T>C - IntronicSNV - 5/36 1
3-41964648-A-T c.542-3338T>A - IntronicSNV - 5/36 1
3-41973062-T-C c.541+274A>G - IntronicSNV - 5/36 1
3-41973352-C-A c.525G>T p.M175I Missense 5/37 - 2
3-41973352-C-G c.525G>C p.M175I Missense 5/37 - 2
3-41973352-C-T c.525G>A p.M175I Missense 5/37 - 3
3-41973367-G-A c.510C>T p.V170= Synonymous 5/37 - 1
3-41973367-G-C c.510C>G p.V170= Synonymous 5/37 - 1
3-41973367-G-T c.510C>A p.V170= Synonymous 5/37 - 1
3-41973381-T-C c.496A>G p.N166D Missense 5/37 - 1
3-41973384-C-T c.493G>A p.D165N Missense 5/37 - 2
3-41973387-C-A c.490G>T p.G164C Missense 5/37 - 1
3-41973387-C-G c.490G>C p.G164R Missense 5/37 - 1
3-41973390-C-G c.487G>C p.G163R Missense 5/37 - 1
3-41973390-C-T c.487G>A p.G163R Missense 5/37 - 1
3-41973396-C-A c.481G>T p.E161* Nonsense 5/37 - 2
3-41973402-C-T c.475G>A p.A159T Missense 5/37 - 1
3-41973409-C-A c.468G>T p.L156F Missense 5/37 - 1
3-41973409-C-G c.468G>C p.L156F Missense 5/37 - 1
3-41973413-G-A c.464C>T p.A155V Missense 5/37 - 1
3-41973418-G-A c.459C>T p.F153= Synonymous 5/37 - 1
3-41973423-C-T c.454G>A p.E152K Missense 5/37 - 1
3-41973430-A-T c.447T>A p.N149K Missense 5/37 - 1
3-41973431-T-A c.446A>T p.N149I Missense 5/37 - 3
3-41973432-T-TA c.444_445insT p.N149* Nonsense 5/37 - 1
3-41973433-TTC-GTT c.442_444delinsAAC p.E148N Missense 5/37 - 1
3-41973435-C-CA c.441dup p.E148* Nonsense 5/37 - 1
3-41973441-C-T c.436G>A p.E146K Missense 5/37 - 1
3-41973445-T-A c.432A>T p.K144N Missense 5/37 - 1
3-41973445-T-G c.432A>C p.K144N Missense 5/37 - 1
3-41973449-G-A c.428C>T p.A143V Missense 5/37 - 1
3-41973449-G-C c.428C>G p.A143G Missense 5/37 - 2
3-41973455-C-A c.422G>T p.C141F Missense 5/37 - 1
3-41973460-G-C c.417C>G p.N139K Missense 5/37 - 13
3-41973460-G-T c.417C>A p.N139K Missense 5/37 - 3
3-41973462-T-C c.415A>G p.N139D Missense 5/37 - 3
3-41973463-G-C c.414C>G p.S138R Missense 5/37 - 1
3-41973463-G-T c.414C>A p.S138R Missense 5/37 - 1
3-41973465-T-G c.412A>C p.S138R Missense 5/37 - 1
3-41973464-C-T c.413G>A p.S138N Missense 5/37 - 1
3-41973464-CT-GC c.412_413delinsGC p.S138A Missense 5/37 - 1
3-41973474-G-C c.403C>G p.L135V Missense 5/37 - 1
3-41973477-T-G c.400A>C p.T134P Missense 5/37 - 5
3-41973478-G-A c.399C>T p.G133= Synonymous 5/37 - 1
3-41973478-G-C c.399C>G p.G133= Synonymous 5/37 - 1
3-41973478-G-T c.399C>A p.G133= Synonymous 5/37 - 2
3-41973481-A-C c.396T>G p.P132= Synonymous 5/37 - 1
3-41973481-A-G c.396T>C p.P132= Synonymous 5/37 - 2
3-41973481-A-T c.396T>A p.P132= Synonymous 5/37 - 1
3-41973484-CC-GT c.392_393delinsAC p.G131D Missense 5/37 - 1
3-41973486-C-T c.391G>A p.G131R Missense 5/37 - 1
3-41973489-C-T c.388G>A p.E130K Missense 5/37 - 3
3-41973797-C-A c.379-299G>T - IntronicSNV - 4/36 1
3-41977214-C-T c.378+79G>A - IntronicSNV - 4/36 6
3-41977267-G-C c.378+26C>G - IntronicSNV - 4/36 1
3-41977284-A-T c.378+9T>A - IntronicSNV - 4/36 1
3-41977301-G-A c.370C>T p.P124S Missense 4/37 - 6
3-41977303-G-C c.368C>G p.S123C Missense 4/37 - 1
3-41977303-G-T c.368C>A p.S123Y Missense 4/37 - 2
3-41977312-C-T c.359G>A p.C120Y Missense 4/37 - 1
3-41977317-G-C c.354C>G p.L118= Synonymous 4/37 - 1
3-41977319-G-A c.352C>T p.L118F Missense 4/37 - 1
3-41977324-C-G c.347G>C p.G116A Missense 4/37 - 1
3-41977329-T-C c.342A>G p.K114= Synonymous 4/37 - 1
3-41977334-G-A c.337C>T p.H113Y Missense 4/37 - 1
3-41977343-G-C c.328C>G p.H110D Missense 4/37 - 1
3-41977347-T-A c.324A>T p.G108= Synonymous 4/37 - 1
3-41977347-T-C c.324A>G p.G108= Synonymous 4/37 - 2
3-41977347-T-G c.324A>C p.G108= Synonymous 4/37 - 1
3-41977350-A-G c.321T>C p.S107= Synonymous 4/37 - 1
3-41977358-G-T c.313C>A p.L105M Missense 4/37 - 1
3-41977361-C-G c.310G>C p.D104H Missense 4/37 - 1
3-41977367-CA-C c.303del p.F101Lfs*5 Frameshift 4/37 - 1
3-41977373-C-A c.298G>T p.E100* Nonsense 4/37 - 5
3-41977373-C-T c.298G>A p.E100K Missense 4/37 - 3
3-41977382-C-T c.289G>A p.V97I Missense 4/37 - 1
3-41977384-T-C c.287A>G p.D96G Missense 4/37 - 1
3-41977387-T-C c.284A>G p.E95G Missense 4/37 - 1
3-41977388-C-T c.283G>A p.E95K Missense 4/37 - 1
3-41977390-G-A c.281C>T p.P94L Missense 4/37 - 1
3-41977390-G-T c.281C>A p.P94Q Missense 4/37 - 1
3-41977396-T-C c.275A>G p.N92S Missense 4/37 - 1
3-41977402-T-A c.269A>T p.D90V Missense 4/37 - 1
3-41977406-G-C c.265C>G p.Q89E Missense 4/37 - 1
3-41977412-T-G c.259A>C p.I87L Missense 4/37 - 2
3-41977415-C-A c.256G>T p.V86F Missense 4/37 - 1
3-41977421-T-C c.250A>G p.K84E Missense 4/37 - 2
3-41977417-GT-G c.253del p.T85Qfs*14 Frameshift 4/37 - 1
3-41977464-A-C c.239-32T>G - IntronicSNV - 3/36 2
3-41978738-A-T c.238+852T>A - IntronicSNV - 3/36 2
3-41978954-T-C c.238+636A>G - IntronicSNV - 3/36 1
3-41979570-T-C c.238+20A>G - IntronicSNV - 3/36 1
3-41979590-C-A c.238G>T p.G80C Missense 3/37 - 1
3-41979593-T-C c.235A>G p.T79A Missense 3/37 - 1
3-41979595-C-G c.233G>C p.C78S Missense 3/37 - 1
3-41979596-A-C c.232T>G p.C78G Missense 3/37 - 1
3-41979597-G-A c.231C>T p.L77= Synonymous 3/37 - 1
3-41979597-G-C c.231C>G p.L77= Synonymous 3/37 - 1
3-41979597-G-T c.231C>A p.L77= Synonymous 3/37 - 1
3-41979602-C-G c.226G>C p.E76Q Missense 3/37 - 1
3-41979611-G-A c.217C>T p.L73= Synonymous 3/37 - 1
3-41979613-C-A c.215G>T p.W72L Missense 3/37 - 1
3-41979618-G-C c.210C>G p.H70Q Missense 3/37 - 2
3-41979618-G-T c.210C>A p.H70Q Missense 3/37 - 4
3-41979621-G-A c.207C>T p.N69= Synonymous 3/37 - 1
3-41979626-T-A c.202A>T p.S68C Missense 3/37 - 1
3-41979632-C-G c.196G>C p.E66Q Missense 3/37 - 1
3-41979636-C-A c.192G>T p.W64C Missense 3/37 - 1
3-41979636-C-G c.192G>C p.W64C Missense 3/37 - 1
3-41979644-GAA-G c.182_183del p.F61Sfs*2 Frameshift 3/37 - 1
3-41979649-G-C c.179C>G p.T60S Missense 3/37 - 1
3-41979650-T-A c.178A>T p.T60S Missense 3/37 - 1
3-41979651-TAC-CAT c.175_177delinsATG p.V59M Missense 3/37 - 1
3-41979661-T-C c.167A>G p.K56R Missense 3/37 - 1
3-41979676-C-T c.152G>A p.R51H Missense 3/37 - 4
3-41979684-A-C c.144T>G p.R48= Synonymous 3/37 - 1
3-41979684-A-G c.144T>C p.R48= Synonymous 3/37 - 2
3-41979684-A-T c.144T>A p.R48= Synonymous 3/37 - 1
3-41979685-C-A c.143G>T p.R48L Missense 3/37 - 1
3-41979685-C-T c.143G>A p.R48H Missense 3/37 - 1
3-41979687-GAC-CAT c.139_141delinsATG p.V47M Missense 3/37 - 1
3-41979688-A-G c.140T>C p.V47A Missense 3/37 - 1
3-41981490-C-A c.139-1801G>T - IntronicSNV - 2/36 1
3-41987920-T-A c.138+8194A>T - IntronicSNV - 2/36 6
3-41987920-T-C c.138+8194A>G - IntronicSNV - 2/36 6
3-41988979-G-A c.138+7135C>T - IntronicSNV - 2/36 1
3-41988978-CG-C c.138+7135del - IntronicDeletion - 2/36 1
3-41990122-G-A c.138+5992C>T - IntronicSNV - 2/36 3
3-41990425-GA-G c.138+5688del - IntronicDeletion - 2/36 1
3-41992408-G-A c.138+3706C>T - IntronicSNV - 2/36 6
3-41994767-C-T c.138+1347G>A - IntronicSNV - 2/36 1
3-41994779-T-A c.138+1335A>T - IntronicSNV - 2/36 1
3-41994779-T-C c.138+1335A>G - IntronicSNV - 2/36 1
3-41995791-A-G c.138+323T>C - IntronicSNV - 2/36 1
3-41995851-G-A c.138+263C>T - IntronicSNV - 2/36 1
3-41996118-T-C c.134A>G p.N45S Missense 2/37 - 1
3-41996121-G-A c.131C>T p.T44I Missense 2/37 - 2
3-41996123-TAT-AAA c.127_129delinsTTT p.I43F Missense 2/37 - 1
3-41996123-T-C c.129A>G p.I43M Missense 2/37 - 1
3-41996125-T-A c.127A>T p.I43L Missense 2/37 - 5
3-41996125-T-G c.127A>C p.I43L Missense 2/37 - 1
3-41996133-C-G c.119G>C p.R40T Missense 2/37 - 1
3-41996135-T-C c.117A>G p.K39= Synonymous 2/37 - 1
3-41996136-T-A c.116A>T p.K39I Missense 2/37 - 1
3-41996136-T-C c.116A>G p.K39R Missense 2/37 - 63
3-41996138-G-C c.114C>G p.C38W Missense 2/37 - 1
3-41996146-C-A c.106G>T p.D36Y Missense 2/37 - 1
3-41996155-G-A c.97C>T p.L33F Missense 2/37 - 1
3-41996156-A-C c.96T>G p.I32M Missense 2/37 - 1
3-41996171-G-C c.81C>G p.I27M Missense 2/37 - 4
3-41996172-AT-A c.79del p.I27Sfs*4 Frameshift 2/37 - 1
3-41996180-C-A c.72G>T p.K24N Missense 2/37 - 1
3-41996180-C-G c.72G>C p.K24N Missense 2/37 - 1
3-41996184-C-T c.68G>A p.R23Q Missense 2/37 - 1
3-41996185-G-A c.67C>T p.R23W Missense 2/37 - 1
3-41996187-C-T c.65G>A p.R22Q Missense 2/37 - 1
3-41996188-G-A c.64C>T p.R22* Nonsense 2/37 - 1
3-41996191-C-G c.61G>C p.G21R Missense 2/37 - 1
3-41996191-C-T c.61G>A p.G21R Missense 2/37 - 1
3-41996193-T-C c.59A>G p.K20R Missense 2/37 - 1
3-41996199-A-G c.53T>C p.V18A Missense 2/37 - 2
3-41996203-C-G c.49G>C p.V17L Missense 2/37 - 1
3-41996204-A-T c.48T>A p.T16= Synonymous 2/37 - 2
3-41996207-C-A c.45G>T p.K15N Missense 2/37 - 2
3-41996207-C-G c.45G>C p.K15N Missense 2/37 - 2
3-41996208-T-C c.44A>G p.K15R Missense 2/37 - 1
3-41996210-GCT-CCA c.40_42delinsTGG p.S14W Missense 2/37 - 1
3-41996211-C-T c.41G>A p.S14N Missense 2/37 - 1
3-41996216-TCT-CCA c.34_36delinsTGG p.R12W Missense 2/37 - 1
3-41996221-C-A c.31G>T p.G11* Nonsense 2/37 - 1
3-41996221-C-G c.31G>C p.G11R Missense 2/37 - 2
3-41996221-C-T c.31G>A p.G11R Missense 2/37 - 2
3-41996222-G-A c.30C>T p.I10= Synonymous 2/37 - 1
3-41996222-G-T c.30C>A p.I10= Synonymous 2/37 - 1
3-41996224-TCTC-T c.25_27del p.E9del InFrameDeletion 2/37 - 1
3-41996230-C-T c.22G>A p.E8K Missense 2/37 - 1
3-41996235-A-C c.17T>G p.L6R Missense 2/37 - 1
3-41996239-T-C c.13A>G p.I5V Missense 2/37 - 1
3-41996247-T-A c.5A>T p.E2V Missense 2/37 - 1
3-41996248-C-G c.4G>C p.E2Q Missense 2/37 - 1
3-41996250-A-G c.2T>C p.M1? Missense 2/37 - 2
3-41996275-A-G c.-24T>C - 5-UTRSNV 2/37 - 14
3-41996275-A-T c.-24T>A - 5-UTRSNV 2/37 - 14
3-41996296-G-C c.-49+4C>G - 5-UTRSNV - 1/36 1
3-41996304-G-A c.-48-5C>T - IntronicSNV - 1/36 2
3-41996511-A-G c.-48-212T>C - IntronicSNV - 1/36 2
3-41996511-A-T c.-48-212T>A - IntronicSNV - 1/36 2
3-42002761-A-G c.-49+747T>C - intron_variant - 1/36 1
3-42003369-C-A c.-49+139G>T - intron_variant - 1/36 1