PARD3

PARD3 par-3 family cell polarity regulator

Annotation transcript: NM_001184785.2

1687 unique variant annotations were identified in 553 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
10-34398816-A-T c.*1281T>A - 3-UTRSNV 25/25 - 4
10-34398982-G-A c.*1115C>T - 3-UTRSNV 25/25 - 1
10-34399069-C-T c.*1028G>A - 3-UTRSNV 25/25 - 2
10-34399637-G-A c.*460C>T - 3-UTRSNV 25/25 - 1
10-34399637-GC-AA c.*459_*460delinsTT - 3-UTRBlockSubstitution 25/25 - 1
10-34399981-C-A c.*116G>T - 3-UTRSNV 25/25 - 1
10-34400068-G-A c.*29C>T - 3-UTRSNV 25/25 - 1
10-34400069-C-T c.*28G>A - 3-UTRSNV 25/25 - 1
10-34400093-G-A c.*4C>T - 3-UTRSNV 25/25 - 1
10-34400093-G-C c.*4C>G - 3-UTRSNV 25/25 - 1
10-34400093-G-T c.*4C>A - 3-UTRSNV 25/25 - 1
10-34400100-G-A c.4059C>T p.S1353= Synonymous 25/25 - 1
10-34400104-T-C c.4055A>G p.Y1352C Missense 25/25 - 1
10-34400107-A-G c.4052T>C p.F1351S Missense 25/25 - 1
10-34400110-G-A c.4049C>T p.P1350L Missense 25/25 - 1
10-34400111-G-A c.4048C>T p.P1350S Missense 25/25 - 1
10-34400112-C-T c.4047G>A p.R1349= Synonymous 25/25 - 1
10-34400114-T-G c.4045A>C p.R1349= Synonymous 25/25 - 1
10-34400113-CT-TG c.4045_4046delinsCA p.R1349Q Missense 25/25 - 1
10-34400114-T-C c.4045A>G p.R1349G Missense 25/25 - 1
10-34400115-C-CCGTTG c.4043_4044insCAACG p.R1349Nfs*112 Frameshift 25/25 - 1
10-34400117-C-A c.4042G>T p.G1348W Missense 25/25 - 1
10-34400117-C-T c.4042G>A p.G1348R Missense 25/25 - 1
10-34400118-T-C c.4041A>G p.K1347= Synonymous 25/25 - 1
10-34400118-T-G c.4041A>C p.K1347N Missense 25/25 - 1
10-34400120-T-G c.4039A>C p.K1347Q Missense 25/25 - 1
10-34400123-C-G c.4036G>C p.E1346Q Missense 25/25 - 1
10-34400125-GGA-G c.4032_4033del p.P1345* Frameshift 25/25 - 1
10-34400129-T-A c.4030A>T p.T1344S Missense 25/25 - 1
10-34400129-T-TCA c.4029_4030insTG p.T1344* Nonsense 25/25 - 1
10-34400132-G-A c.4027C>T p.Q1343* Nonsense 25/25 - 1
10-34400132-G-T c.4027C>A p.Q1343K Missense 25/25 - 1
10-34400134-A-C c.4025T>G p.L1342R Missense 25/25 - 1
10-34400136-T-A c.4023A>T p.R1341S Missense 25/25 - 1
10-34400136-T-G c.4023A>C p.R1341S Missense 25/25 - 1
10-34400139-G-A c.4020C>T p.N1340= Synonymous 25/25 - 1
10-34400138-TGTTCA-T c.4016_4020del p.L1339Qfs*6 Frameshift 25/25 - 1
10-34400145-C-A c.4014G>T p.R1338S Missense 25/25 - 1
10-34400148-C-A c.4011G>T p.A1337= Synonymous 25/25 - 1
10-34400148-C-T c.4011G>A p.A1337= Synonymous 25/25 - 1
10-34400149-G-A c.4010C>T p.A1337V Missense 25/25 - 4
10-34400149-G-C c.4010C>G p.A1337G Missense 25/25 - 2
10-34400150-C-T c.4009G>A p.A1337T Missense 25/25 - 1
10-34400153-C-A c.4006G>T p.V1336F Missense 25/25 - 1
10-34400153-C-G c.4006G>C p.V1336L Missense 25/25 - 1
10-34400155-T-TG c.4003dup p.Q1335Pfs*12 Frameshift 25/25 - 1
10-34400158-G-A c.4001C>T p.S1334F Missense 25/25 - 2
10-34400159-A-C c.4000T>G p.S1334A Missense 25/25 - 1
10-34400159-A-G c.4000T>C p.S1334P Missense 25/25 - 1
10-34400162-G-C c.3997C>G p.P1333A Missense 25/25 - 1
10-34400162-G-T c.3997C>A p.P1333T Missense 25/25 - 2
10-34400167-G-A c.3992C>T p.P1331L Missense 25/25 - 1
10-34400168-G-A c.3991C>T p.P1331S Missense 25/25 - 2
10-34400165-A-AG c.3993dup p.S1332Lfs*15 Frameshift 25/25 - 1
10-34400165-AG-A c.3993del p.S1332Pfs*8 Frameshift 25/25 - 1
10-34400172-C-T c.3987G>A p.V1329= Synonymous 25/25 - 1
10-34400176-T-C c.3983A>G p.D1328G Missense 25/25 - 1
10-34400180-G-A c.3979C>T p.Q1327* Nonsense 25/25 - 4
10-34400182-C-T c.3977G>A p.R1326Q Missense 25/25 - 2
10-34400183-G-A c.3976C>T p.R1326W Missense 25/25 - 2
10-34400187-G-A c.3972C>T p.P1324= Synonymous 25/25 - 2
10-34400189-G-A c.3970C>T p.P1324S Missense 25/25 - 1
10-34400191-C-A c.3968G>T p.G1323V Missense 25/25 - 1
10-34400191-C-T c.3968G>A p.G1323E Missense 25/25 - 1
10-34400192-C-A c.3967G>T p.G1323W Missense 25/25 - 1
10-34400196-G-A c.3963C>T p.P1321= Synonymous 25/25 - 1
10-34400197-G-A c.3962C>T p.P1321L Missense 25/25 - 1
10-34400198-G-A c.3961C>T p.P1321S Missense 25/25 - 1
10-34400202-G-A c.3957C>T p.A1319= Synonymous 25/25 - 2
10-34400203-G-C c.3956C>G p.A1319G Missense 25/25 - 1
10-34400204-C-T c.3955G>A p.A1319T Missense 25/25 - 1
10-34400205-G-A c.3954C>T p.Y1318= Synonymous 25/25 - 1
10-34400205-G-T c.3954C>A p.Y1318* Nonsense 25/25 - 1
10-34400213-G-A c.3946C>T p.P1316S Missense 25/25 - 2
10-34400214-G-T c.3945C>A p.D1315E Missense 25/25 - 1
10-34400215-T-C c.3944A>G p.D1315G Missense 25/25 - 1
10-34400216-C-A c.3943G>T p.D1315Y Missense 25/25 - 2
10-34400217-C-A c.3942G>T p.Q1314H Missense 25/25 - 1
10-34400226-C-T c.3933G>A p.K1311= Synonymous 25/25 - 1
10-34400227-T-C c.3932A>G p.K1311R Missense 25/25 - 1
10-34400228-T-C c.3931A>G p.K1311E Missense 25/25 - 1
10-34400230-T-C c.3929A>G p.Y1310C Missense 25/25 - 1
10-34400233-G-A c.3926C>T p.S1309L Missense 25/25 - 2
10-34400239-T-C c.3920A>G p.Y1307C Missense 25/25 - 1
10-34400244-G-A c.3915C>T p.S1305= Synonymous 25/25 - 1
10-34400244-G-T c.3915C>A p.S1305R Missense 25/25 - 1
10-34400247-G-A c.3912C>T p.P1304= Synonymous 25/25 - 1
10-34400251-C-T c.3908G>A p.G1303E Missense 25/25 - 1
10-34400252-C-T c.3907G>A p.G1303R Missense 25/25 - 1
10-34400253-C-A c.3906G>T p.E1302D Missense 25/25 - 1
10-34400254-T-A c.3905A>T p.E1302V Missense 25/25 - 1
10-34400254-T-G c.3905A>C p.E1302A Missense 25/25 - 1
10-34400255-C-T c.3904G>A p.E1302K Missense 25/25 - 1
10-34400256-G-A c.3903C>T p.S1301= Synonymous 25/25 - 2
10-34400260-G-A c.3899C>T p.P1300L Missense 25/25 - 4
10-34400267-G-A c.3892C>T p.Q1298* Nonsense 25/25 - 1
10-34400271-C-G c.3888G>C p.K1296N Missense 25/25 - 2
10-34400280-C-A c.3879G>T p.Q1293H Missense 25/25 - 1
10-34400282-G-A c.3877C>T p.Q1293* Nonsense 25/25 - 2
10-34400291-G-A c.3868C>T p.R1290W Missense 25/25 - 1
10-34400295-C-A c.3864G>T p.Q1288H Missense 25/25 - 1
10-34400305-C-T c.3854G>A p.R1285H Missense 25/25 - 2
10-34400309-G-A c.3850C>T p.L1284F Missense 25/25 - 1
10-34400325-C-T c.3834G>A p.L1278= Synonymous 25/25 - 1
10-34400328-C-A c.3831G>T p.M1277I Missense 25/25 - 1
10-34400339-C-A c.3820G>T p.A1274S Missense 25/25 - 2
10-34400339-C-T c.3820G>A p.A1274T Missense 25/25 - 2
10-34400347-C-A c.3812G>T p.G1271V Missense 25/25 - 5
10-34400357-C-A c.3802G>T p.G1268* Nonsense 25/25 - 1
10-34400372-T-C c.3787A>G p.R1263G Missense 25/25 - 1
10-34400374-G-A c.3785C>T p.S1262F Missense 25/25 - 2
10-34400374-G-C c.3785C>G p.S1262C Missense 25/25 - 1
10-34400377-C-A c.3782G>T p.G1261V Missense 25/25 - 1
10-34400377-C-G c.3782G>C p.G1261A Missense 25/25 - 1
10-34400387-T-A c.3772A>T p.S1258C Missense 25/25 - 2
10-34400398-G-A c.3761C>T p.P1254L Missense 25/25 - 1
10-34400398-G-T c.3761C>A p.P1254H Missense 25/25 - 1
10-34400403-C-T c.3756G>A p.E1252= Synonymous 25/25 - 1
10-34400406-T-A c.3753A>T p.K1251N Missense 25/25 - 1
10-34400406-T-G c.3753A>C p.K1251N Missense 25/25 - 1
10-34400410-G-A c.3749C>T p.A1250V Missense 25/25 - 1
10-34400413-CT-AA c.3745_3746delinsTT p.S1249F Missense 25/25 - 1
10-34400415-C-T c.3744G>A p.Q1248= Synonymous 25/25 - 1
10-34400434-G-A c.3725C>T p.S1242F Missense 25/25 - 1
10-34400434-G-T c.3725C>A p.S1242Y Missense 25/25 - 1
10-34400452-G-A c.3707C>T p.S1236F Missense 25/25 - 6
10-34400454-G-C c.3705C>G p.D1235E Missense 25/25 - 2
10-34400454-G-T c.3705C>A p.D1235E Missense 25/25 - 1
10-34400458-T-G c.3701A>C p.Q1234P Missense 25/25 - 1
10-34400459-G-T c.3700C>A p.Q1234K Missense 25/25 - 1
10-34400461-G-A c.3698C>T p.S1233F Missense 25/25 - 1
10-34400461-GA-CC c.3697_3698delinsGG p.S1233G Missense 25/25 - 1
10-34400467-G-A c.3692C>T p.S1231L Missense 25/25 - 1
10-34400467-G-C c.3692C>G p.S1231W Missense 25/25 - 1
10-34400471-T-C c.3688A>G p.S1230G Missense 25/25 - 1
10-34400478-T-G c.3681A>C p.K1227N Missense 25/25 - 1
10-34400483-T-A c.3676A>T p.R1226W Missense 25/25 - 1
10-34400484-G-A c.3675C>T p.S1225= Synonymous 25/25 - 1
10-34404536-T-A c.3668+4005A>T - IntronicSNV - 24/24 1
10-34406231-A-C c.3668+2310T>G - IntronicSNV - 24/24 1
10-34408467-G-A c.3668+74C>T - IntronicSNV - 24/24 1
10-34408542-G-A c.3667C>T p.R1223W Missense 24/25 - 2
10-34408542-G-T c.3667C>A p.R1223= Synonymous 24/25 - 1
10-34408552-G-A c.3657C>T p.S1219= Synonymous 24/25 - 1
10-34408553-C-T c.3656G>A p.S1219N Missense 24/25 - 1
10-34408553-CT-AA c.3655_3656delinsTT p.S1219F Missense 24/25 - 1
10-34408561-GC-TT c.3647_3648delinsAA p.R1216Q Missense 24/25 - 1
10-34408575-G-A c.3634C>T p.Q1212* Nonsense 24/25 - 1
10-34408576-G-A c.3633C>T p.S1211= Synonymous 24/25 - 1
10-34408582-C-T c.3627G>A p.E1209= Synonymous 24/25 - 1
10-34408584-C-G c.3625G>C p.E1209Q Missense 24/25 - 1
10-34408584-C-T c.3625G>A p.E1209K Missense 24/25 - 1
10-34408586-C-T c.3623G>A p.R1208H Missense 24/25 - 2
10-34408587-G-A c.3622C>T p.R1208C Missense 24/25 - 1
10-34408588-C-G c.3621G>C p.E1207D Missense 24/25 - 1
10-34408594-C-A c.3615G>T p.Q1205H Missense 24/25 - 1
10-34408594-C-T c.3615G>A p.Q1205= Synonymous 24/25 - 1
10-34408597-C-G c.3612G>C p.R1204= Synonymous 24/25 - 1
10-34408599-G-A c.3610C>T p.R1204W Missense 24/25 - 1
10-34408602-G-A c.3607C>T p.Q1203* Nonsense 24/25 - 1
10-34408603-C-G c.3606G>C p.R1202= Synonymous 24/25 - 1
10-34408604-C-A c.3605G>T p.R1202L Missense 24/25 - 2
10-34408604-C-T c.3605G>A p.R1202Q Missense 24/25 - 2
10-34408607-T-C c.3602A>G p.Q1201R Missense 24/25 - 1
10-34408613-T-C c.3596A>G p.Q1199R Missense 24/25 - 1
10-34408621-C-T c.3588G>A p.V1196= Synonymous 24/25 - 2
10-34408623-C-A c.3586G>T p.V1196L Missense 24/25 - 1
10-34408623-C-G c.3586G>C p.V1196L Missense 24/25 - 1
10-34408623-C-T c.3586G>A p.V1196M Missense 24/25 - 1
10-34408625-G-A c.3584C>T p.S1195F Missense 24/25 - 1
10-34408630-C-G c.3579G>C p.S1193= Synonymous 24/25 - 1
10-34408630-C-T c.3579G>A p.S1193= Synonymous 24/25 - 1
10-34408633-G-C c.3576C>G p.H1192Q Missense 24/25 - 1
10-34408636-GT-G c.3573del p.H1192Tfs*104 Frameshift 24/25 - 1
10-34408636-T-C c.3573A>G p.R1191= Synonymous 24/25 - 4
10-34408636-TCG-CCA c.3571_3573delinsTGG p.R1191W Missense 24/25 - 1
10-34408637-C-T c.3572G>A p.R1191Q Missense 24/25 - 1
10-34408645-C-T c.3564G>A p.Q1188= Synonymous 24/25 - 1
10-34408646-T-C c.3563A>G p.Q1188R Missense 24/25 - 1
10-34408649-G-A c.3560C>T p.T1187M Missense 24/25 - 5
10-34408655-G-A c.3554C>T p.P1185L Missense 24/25 - 1
10-34408659-G-A c.3550C>T p.R1184W Missense 24/25 - 1
10-34408663-G-A c.3546C>T p.N1182= Synonymous 24/25 - 1
10-34408663-G-T c.3546C>A p.N1182K Missense 24/25 - 1
10-34408668-G-A c.3541C>T p.P1181S Missense 24/25 - 1
10-34408745-A-C c.3541-77T>G - IntronicSNV - 23/24 7
10-34408745-A-T c.3541-77T>A - IntronicSNV - 23/24 7
10-34420391-C-A c.3540G>T p.W1180C Missense 23/25 - 1
10-34420396-GT-G c.3534del p.Q1178Hfs*118 Frameshift 23/25 - 1
10-34420403-A-G c.3528T>C p.F1176= Synonymous 23/25 - 1
10-34420407-C-A c.3524G>T p.S1175I Missense 23/25 - 1
10-34420407-CT-AA c.3523_3524delinsTT p.S1175F Missense 23/25 - 1
10-34420414-T-C c.3517A>G p.T1173A Missense 23/25 - 1
10-34420417-G-A c.3514C>T p.R1172W Missense 23/25 - 1
10-34420421-ACG-CCA c.3508_3510delinsTGG p.R1170W Missense 23/25 - 1
10-34420422-C-T c.3509G>A p.R1170H Missense 23/25 - 1
10-34420423-G-A c.3508C>T p.R1170C Missense 23/25 - 1
10-34420426-C-A c.3505G>T p.D1169Y Missense 23/25 - 2
10-34420429-C-A c.3502G>T p.E1168* Nonsense 23/25 - 1
10-34420432-C-A c.3499G>T p.V1167L Missense 23/25 - 1
10-34420432-C-G c.3499G>C p.V1167L Missense 23/25 - 1
10-34420432-C-T c.3499G>A p.V1167I Missense 23/25 - 5
10-34420436-T-C c.3495A>G p.E1165= Synonymous 23/25 - 1
10-34420441-C-A c.3490G>T p.D1164Y Missense 23/25 - 1
10-34420443-T-C c.3488A>G p.Q1163R Missense 23/25 - 1
10-34420444-G-A c.3487C>T p.Q1163* Nonsense 23/25 - 1
10-34420452-T-C c.3479A>G p.Q1160R Missense 23/25 - 1
10-34420459-AT-A c.3471del p.E1157Dfs*11 Frameshift 23/25 - 1
10-34420466-C-T c.3465G>A p.R1155= Synonymous 23/25 - 1
10-34420471-G-A c.3460C>T p.L1154= Synonymous 23/25 - 1
10-34420472-ACG-CCA c.3457_3459delinsTGG p.R1153W Missense 23/25 - 1
10-34420473-C-A c.3458G>T p.R1153L Missense 23/25 - 1
10-34420473-C-T c.3458G>A p.R1153H Missense 23/25 - 1
10-34420474-G-A c.3457C>T p.R1153C Missense 23/25 - 5
10-34420477-G-T c.3454C>A p.Q1152K Missense 23/25 - 1
10-34420485-T-C c.3446A>G p.D1149G Missense 23/25 - 1
10-34420491-T-C c.3440A>G p.N1147S Missense 23/25 - 1
10-34420493-GCT-TCA c.3436_3438delinsTGA p.S1146* Nonsense 23/25 - 1
10-34420497-G-A c.3434C>T p.P1145L Missense 23/25 - 1
10-34420499-AG-CA c.3431_3432delinsTG p.T1144M Missense 23/25 - 2
10-34420500-G-A c.3431C>T p.T1144I Missense 23/25 - 1
10-34420503-GA-CC c.3427_3428delinsGG p.S1143G Missense 23/25 - 2
10-34420508-G-A c.3423C>T p.N1141= Synonymous 23/25 - 1
10-34420510-T-C c.3421A>G p.N1141D Missense 23/25 - 1
10-34420607-G-A c.3420-96C>T - IntronicSNV - 22/24 7
10-34445419-T-C c.3420-24908A>G - IntronicSNV - 22/24 1
10-34449466-C-A c.3420-28955G>T - IntronicSNV - 22/24 1
10-34452163-C-T c.3420-31652G>A - IntronicSNV - 22/24 1
10-34452653-T-G c.3420-32142A>C - IntronicSNV - 22/24 1
10-34456531-T-A c.3420-36020A>T - IntronicSNV - 22/24 1
10-34456531-T-C c.3420-36020A>G - IntronicSNV - 22/24 1
10-34457489-C-A c.3420-36978G>T - IntronicSNV - 22/24 1
10-34463378-A-C c.3420-42867T>G - IntronicSNV - 22/24 1
10-34466656-G-A c.3420-46145C>T - IntronicSNV - 22/24 1
10-34470204-C-T c.3420-49693G>A - IntronicSNV - 22/24 1
10-34480582-G-A c.3420-60071C>T - IntronicSNV - 22/24 1
10-34480582-G-C c.3420-60071C>G - IntronicSNV - 22/24 1
10-34490287-G-A c.3419+68298C>T - IntronicSNV - 22/24 1
10-34509032-G-A c.3419+49553C>T - IntronicSNV - 22/24 1
10-34509032-G-T c.3419+49553C>A - IntronicSNV - 22/24 1
10-34537584-C-G c.3419+21001G>C - IntronicSNV - 22/24 1
10-34539329-G-A c.3419+19256C>T - IntronicSNV - 22/24 1
10-34549791-A-G c.3419+8794T>C - IntronicSNV - 22/24 1
10-34550757-C-A c.3419+7828G>T - IntronicSNV - 22/24 1
10-34550757-C-G c.3419+7828G>C - IntronicSNV - 22/24 1
10-34558549-T-C c.3419+36A>G - IntronicSNV - 22/24 1
10-34558586-T-C c.3418A>G p.S1140G Missense 22/25 - 2
10-34558589-C-G c.3415G>C p.D1139H Missense 22/25 - 1
10-34558594-G-A c.3410C>T p.P1137L Missense 22/25 - 1
10-34558597-G-A c.3407C>T p.S1136L Missense 22/25 - 5
10-34558602-T-G c.3402A>C p.K1134N Missense 22/25 - 1
10-34558608-A-C c.3396T>G p.N1132K Missense 22/25 - 1
10-34558608-A-T c.3396T>A p.N1132K Missense 22/25 - 1
10-34558612-C-T c.3392G>A p.R1131Q Missense 22/25 - 2
10-34558613-G-A c.3391C>T p.R1131W Missense 22/25 - 2
10-34558625-C-G c.3379G>C p.V1127L Missense 22/25 - 1
10-34558631-C-T c.3373G>A p.A1125T Missense 22/25 - 1
10-34558644-C-T c.3360G>A p.M1120I Missense 22/25 - 1
10-34558646-T-C c.3358A>G p.M1120V Missense 22/25 - 2
10-34558652-G-A c.3352C>T p.H1118Y Missense 22/25 - 2
10-34558654-C-T c.3350G>A p.G1117E Missense 22/25 - 1
10-34558656-T-G c.3348A>C p.E1116D Missense 22/25 - 1
10-34558660-C-T c.3344G>A p.R1115Q Missense 22/25 - 1
10-34558663-G-T c.3341C>A p.P1114Q Missense 22/25 - 1
10-34558668-C-A c.3336G>T p.Q1112H Missense 22/25 - 1
10-34558668-C-G c.3336G>C p.Q1112H Missense 22/25 - 1
10-34558674-T-G c.3330A>C p.R1110S Missense 22/25 - 1
10-34558678-G-A c.3326C>T p.A1109V Missense 22/25 - 1
10-34558679-C-G c.3325G>C p.A1109P Missense 22/25 - 1
10-34558679-C-T c.3325G>A p.A1109T Missense 22/25 - 2
10-34558680-G-A c.3324C>T p.N1108= Synonymous 22/25 - 1
10-34558681-T-C c.3323A>G p.N1108S Missense 22/25 - 1
10-34558685-G-A c.3319C>T p.L1107F Missense 22/25 - 3
10-34558685-G-C c.3319C>G p.L1107V Missense 22/25 - 1
10-34558687-G-A c.3317C>T p.A1106V Missense 22/25 - 1
10-34558689-C-A c.3315G>T p.M1105I Missense 22/25 - 1
10-34558695-A-G c.3309T>C p.G1103= Synonymous 22/25 - 1
10-34558696-C-A c.3308G>T p.G1103V Missense 22/25 - 1
10-34558696-C-T c.3308G>A p.G1103D Missense 22/25 - 1
10-34558705-G-A c.3299C>T p.S1100F Missense 22/25 - 2
10-34558711-A-G c.3293T>C p.V1098A Missense 22/25 - 1
10-34558711-A-T c.3293T>A p.V1098D Missense 22/25 - 1
10-34558715-C-G c.3289G>C p.G1097R Missense 22/25 - 2
10-34558715-C-T c.3289G>A p.G1097R Missense 22/25 - 5
10-34558717-C-A c.3287G>T p.G1096V Missense 22/25 - 1
10-34558732-T-C c.3272A>G p.D1091G Missense 22/25 - 1
10-34558732-T-G c.3272A>C p.D1091A Missense 22/25 - 1
10-34558733-C-G c.3271G>C p.D1091H Missense 22/25 - 1
10-34558738-C-G c.3266G>C p.C1089S Missense 22/25 - 2
10-34558739-A-T c.3265T>A p.C1089S Missense 22/25 - 2
10-34558748-T-C c.3256A>G p.T1086A Missense 22/25 - 1
10-34558750-C-A c.3254G>T p.R1085L Missense 22/25 - 1
10-34558750-C-G c.3254G>C p.R1085P Missense 22/25 - 1
10-34558750-C-T c.3254G>A p.R1085Q Missense 22/25 - 1
10-34558753-T-C c.3251A>G p.H1084R Missense 22/25 - 1
10-34558754-G-T c.3250C>A p.H1084N Missense 22/25 - 1
10-34558758-A-G c.3246T>C p.D1082= Synonymous 22/25 - 1
10-34558760-C-A c.3244G>T p.D1082Y Missense 22/25 - 1
10-34558760-C-T c.3244G>A p.D1082N Missense 22/25 - 1
10-34558769-C-T c.3235G>A p.E1079K Missense 22/25 - 1
10-34558771-G-A c.3233C>T p.A1078V Missense 22/25 - 1
10-34558780-C-A c.3224G>T p.R1075L Missense 22/25 - 1
10-34558780-C-T c.3224G>A p.R1075H Missense 22/25 - 1
10-34558781-G-A c.3223C>T p.R1075C Missense 22/25 - 1
10-34558786-C-A c.3218G>T p.R1073L Missense 22/25 - 2
10-34558786-C-T c.3218G>A p.R1073Q Missense 22/25 - 1
10-34558787-G-C c.3217C>G p.R1073G Missense 22/25 - 3
10-34558790-C-A c.3214G>T p.A1072S Missense 22/25 - 1
10-34558790-C-T c.3214G>A p.A1072T Missense 22/25 - 1
10-34558795-C-G c.3209G>C p.R1070P Missense 22/25 - 1
10-34558795-C-T c.3209G>A p.R1070Q Missense 22/25 - 1
10-34558796-G-C c.3208C>G p.R1070G Missense 22/25 - 1
10-34558799-C-G c.3205G>C p.E1069Q Missense 22/25 - 6
10-34558801-C-A c.3203G>T p.R1068M Missense 22/25 - 1
10-34558801-C-T c.3203G>A p.R1068K Missense 22/25 - 2
10-34558801-CT-TA c.3202_3203delinsTA p.R1068* Nonsense 22/25 - 1
10-34558808-C-G c.3196G>C p.E1066Q Missense 22/25 - 6
10-34558808-C-T c.3196G>A p.E1066K Missense 22/25 - 1
10-34558813-G-A c.3191C>T p.T1064I Missense 22/25 - 1
10-34558817-T-C c.3187A>G p.K1063E Missense 22/25 - 1
10-34558839-G-A c.3177-12C>T - IntronicSNV - 21/24 1
10-34564292-G-A c.3177-5465C>T - IntronicSNV - 21/24 6
10-34573065-C-G c.3174G>C p.E1058D Missense 21/25 - 1
10-34573069-T-C c.3170A>G p.Q1057R Missense 21/25 - 1
10-34573069-T-G c.3170A>C p.Q1057P Missense 21/25 - 1
10-34573070-G-C c.3169C>G p.Q1057E Missense 21/25 - 2
10-34573070-G-T c.3169C>A p.Q1057K Missense 21/25 - 1
10-34573073-C-T c.3166G>A p.E1056K Missense 21/25 - 1
10-34573082-T-C c.3157A>G p.M1053V Missense 21/25 - 1
10-34573087-A-G c.3152T>C p.I1051T Missense 21/25 - 1
10-34573095-C-A c.3144G>T p.E1048D Missense 21/25 - 1
10-34573095-C-G c.3144G>C p.E1048D Missense 21/25 - 1
10-34573101-T-A c.3138A>T p.S1046= Synonymous 21/25 - 1
10-34573101-T-C c.3138A>G p.S1046= Synonymous 21/25 - 1
10-34573101-T-G c.3138A>C p.S1046= Synonymous 21/25 - 1
10-34573101-TG-AA c.3137_3138delinsTT p.S1046F Missense 21/25 - 4
10-34573102-G-A c.3137C>T p.S1046L Missense 21/25 - 6
10-34573108-AA-GC c.3130_3131delinsGC p.F1044A Missense 21/25 - 1
10-34573110-G-C c.3129C>G p.S1043= Synonymous 21/25 - 1
10-34573116-C-A c.3123G>T p.Q1041H Missense 21/25 - 1
10-34573116-C-G c.3123G>C p.Q1041H Missense 21/25 - 1
10-34573128-T-A c.3111A>T p.K1037N Missense 21/25 - 1
10-34573133-C-T c.3106G>A p.G1036S Missense 21/25 - 3
10-34573141-T-A c.3098A>T p.E1033V Missense 21/25 - 1
10-34573145-T-A c.3094A>T p.I1032F Missense 21/25 - 1
10-34573148-T-C c.3091A>G p.K1031E Missense 21/25 - 1
10-34573154-C-G c.3085G>C p.D1029H Missense 21/25 - 1
10-34573154-C-T c.3085G>A p.D1029N Missense 21/25 - 2
10-34573160-G-C c.3079C>G p.R1027G Missense 21/25 - 1
10-34573168-C-T c.3071G>A p.G1024D Missense 21/25 - 1
10-34573173-C-A c.3066G>T p.R1022S Missense 21/25 - 1
10-34573173-C-T c.3066G>A p.R1022= Synonymous 21/25 - 1
10-34606036-T-G c.3064A>C p.R1022= Synonymous 20/25 - 1
10-34576680-T-C c.3066-3507A>G - IntronicSNV - 20/24 1
10-34583697-G-A c.3066-10524C>T - IntronicSNV - 20/24 1
10-34591402-C-T c.3065+14633G>A - IntronicSNV - 20/24 1
10-34599986-T-C c.3065+6049A>G - IntronicSNV - 20/24 2
10-34600193-T-A c.3065+5842A>T - IntronicSNV - 20/24 1
10-34601172-G-A c.3065+4863C>T - IntronicSNV - 20/24 1
10-34601219-A-T c.3065+4816T>A - IntronicSNV - 20/24 1
10-34601291-C-T c.3065+4744G>A - IntronicSNV - 20/24 1
10-34606037-G-A c.3063C>T p.F1021= Synonymous 20/25 - 1
10-34606045-C-T c.3055G>A p.D1019N Missense 20/25 - 1
10-34606046-TCC-ACA c.3052_3054delinsTGT p.G1018C Missense 20/25 - 1
10-34606046-TCC-GCT c.3052_3054delinsAGC p.G1018S Missense 20/25 - 1
10-34606049-C-G c.3051G>C p.L1017F Missense 20/25 - 1
10-34606053-C-A c.3047G>T p.G1016V Missense 20/25 - 1
10-34606053-C-T c.3047G>A p.G1016D Missense 20/25 - 1
10-34606066-C-G c.3034G>C p.G1012R Missense 20/25 - 2
10-34606066-C-T c.3034G>A p.G1012R Missense 20/25 - 1
10-34606067-C-T c.3033G>A p.K1011= Synonymous 20/25 - 1
10-34606068-T-A c.3032A>T p.K1011M Missense 20/25 - 1
10-34606069-T-C c.3031A>G p.K1011E Missense 20/25 - 1
10-34606074-G-T c.3026C>A p.A1009D Missense 20/25 - 1
10-34606093-C-T c.3007G>A p.E1003K Missense 20/25 - 2
10-34606094-C-A c.3006G>T p.K1002N Missense 20/25 - 2
10-34606094-C-G c.3006G>C p.K1002N Missense 20/25 - 2
10-34606099-C-T c.3001G>A p.D1001N Missense 20/25 - 1
10-34606103-A-C c.2997T>G p.D999E Missense 20/25 - 1
10-34606103-A-G c.2997T>C p.D999= Synonymous 20/25 - 1
10-34606105-C-T c.2995G>A p.D999N Missense 20/25 - 2
10-34606108-T-C c.2992A>G p.K998E Missense 20/25 - 1
10-34606119-T-A c.2981A>T p.K994I Missense 20/25 - 1
10-34606122-CC-GT c.2977_2978delinsAC p.G993T Missense 20/25 - 1
10-34606122-C-G c.2978G>C p.G993A Missense 20/25 - 1
10-34606122-C-T c.2978G>A p.G993E Missense 20/25 - 1
10-34606123-C-A c.2977G>T p.G993* Nonsense 20/25 - 1
10-34606124-A-C c.2976T>G p.T992= Synonymous 20/25 - 1
10-34606124-A-G c.2976T>C p.T992= Synonymous 20/25 - 1
10-34606124-A-T c.2976T>A p.T992= Synonymous 20/25 - 1
10-34606131-T-TC c.2968dup p.D990Gfs*2 Frameshift 20/25 - 1
10-34606133-CTT-AAA c.2965_2967delinsTTT p.K989F Missense 20/25 - 1
10-34606144-C-T c.2956G>A p.D986N Missense 20/25 - 5
10-34606145-A-G c.2955T>C p.T985= Synonymous 20/25 - 1
10-34606145-AG-CC c.2954_2955delinsGG p.T985R Missense 20/25 - 1
10-34606146-G-A c.2954C>T p.T985I Missense 20/25 - 1
10-34606147-T-TACTCCTACCCAGTGTGTTTTTTCCTTTGGATCTCCTCCCTCCCCAGAAA c.2952_2953insTTTCTGGGGAGGGAGGAGATCCAAAGGAAAAAACACACTGGGTAGGAGT p.T985Ffs*15 Frameshift 20/25 - 1
10-34606149-T-C c.2951A>G p.K984R Missense 20/25 - 1
10-34606149-T-G c.2951A>C p.K984T Missense 20/25 - 1
10-34606150-T-TAGGTTTAC c.2949_2950insGTAAACCT p.K984Vfs*27 Frameshift 20/25 - 1
10-34606153-C-T c.2947G>A p.D983N Missense 20/25 - 1
10-34606155-C-T c.2945G>A p.G982D Missense 20/25 - 1
10-34606158-T-C c.2942A>G p.K981R Missense 20/25 - 1
10-34606158-T-G c.2942A>C p.K981T Missense 20/25 - 1
10-34606171-C-T c.2929G>A p.G977R Missense 20/25 - 1
10-34606173-T-C c.2927A>G p.N976S Missense 20/25 - 1
10-34606172-A-AT c.2927dup p.N976Kfs*8 Frameshift 20/25 - 1
10-34606175-C-T c.2925G>A p.M975I Missense 20/25 - 1
10-34606180-G-A c.2920C>T p.Q974* Nonsense 20/25 - 2
10-34606182-C-T c.2918G>A p.R973K Missense 20/25 - 1
10-34606194-T-G c.2906A>C p.H969P Missense 20/25 - 1
10-34606195-G-A c.2905C>T p.H969Y Missense 20/25 - 1
10-34606203-T-C c.2897A>G p.Q966R Missense 20/25 - 1
10-34606204-G-A c.2896C>T p.Q966* Nonsense 20/25 - 1
10-34606213-C-T c.2887G>A p.A963T Missense 20/25 - 1
10-34606215-G-A c.2885C>T p.T962I Missense 20/25 - 2
10-34606217-G-A c.2883C>T p.S961= Synonymous 20/25 - 1
10-34606227-T-C c.2873A>G p.E958G Missense 20/25 - 1
10-34606236-G-C c.2864C>G p.S955* Nonsense 20/25 - 1
10-34606236-G-T c.2864C>A p.S955* Nonsense 20/25 - 1
10-34606242-GA-AT c.2857_2858delinsAT p.S953I Missense 20/25 - 1
10-34612485-A-G c.2834-6219T>C - IntronicSNV - 19/24 1
10-34612485-A-T c.2834-6219T>A - IntronicSNV - 19/24 1
10-34614847-A-C c.2833+5198T>G - IntronicSNV - 19/24 1
10-34617020-C-T c.2833+3025G>A - IntronicSNV - 19/24 6
10-34617081-T-A c.2833+2964A>T - IntronicSNV - 19/24 1
10-34619946-A-C c.2833+99T>G - IntronicSNV - 19/24 5
10-34620053-A-T c.2825T>A p.M942K Missense 19/25 - 1
10-34620057-C-G c.2821G>C p.G941R Missense 19/25 - 1
10-34620058-T-A c.2820A>T p.E940D Missense 19/25 - 2
10-34620058-T-G c.2820A>C p.E940D Missense 19/25 - 2
10-34620066-C-G c.2812G>C p.D938H Missense 19/25 - 1
10-34620067-A-G c.2811T>C p.D937= Synonymous 19/25 - 1
10-34620069-C-T c.2809G>A p.D937N Missense 19/25 - 2
10-34620069-TC-T c.2809del p.D937Mfs*39 Frameshift 19/25 - 1
10-34620072-C-A c.2806G>T p.D936Y Missense 19/25 - 1
10-34620073-T-G c.2805A>C p.V935= Synonymous 19/25 - 1
10-34620077-G-A c.2801C>T p.A934V Missense 19/25 - 4
10-34620077-G-C c.2801C>G p.A934G Missense 19/25 - 1
10-34620078-C-T c.2800G>A p.A934T Missense 19/25 - 1
10-34620079-G-A c.2799C>T p.P933= Synonymous 19/25 - 1
10-34620082-T-A c.2796A>T p.K932N Missense 19/25 - 1
10-34620082-T-G c.2796A>C p.K932N Missense 19/25 - 1
10-34620081-G-GT c.2796dup p.P933Tfs*5 Frameshift 19/25 - 1
10-34620086-T-C c.2792A>G p.D931G Missense 19/25 - 1
10-34620093-AT-A c.2784del p.K928Nfs*8 Frameshift 19/25 - 1
10-34620098-T-C c.2780A>G p.D927G Missense 19/25 - 1
10-34620099-C-A c.2779G>T p.D927Y Missense 19/25 - 1
10-34620099-C-T c.2779G>A p.D927N Missense 19/25 - 2
10-34620100-G-A c.2778C>T p.I926= Synonymous 19/25 - 3
10-34620100-G-C c.2778C>G p.I926M Missense 19/25 - 2
10-34620100-G-T c.2778C>A p.I926= Synonymous 19/25 - 2
10-34620102-T-C c.2776A>G p.I926V Missense 19/25 - 1
10-34620106-A-G c.2772T>C p.A924= Synonymous 19/25 - 1
10-34620107-G-A c.2771C>T p.A924V Missense 19/25 - 1
10-34620107-G-C c.2771C>G p.A924G Missense 19/25 - 2
10-34620108-C-A c.2770G>T p.A924S Missense 19/25 - 1
10-34620115-G-A c.2763C>T p.S921= Synonymous 19/25 - 1
10-34620116-C-T c.2762G>A p.S921N Missense 19/25 - 1
10-34620121-A-T c.2757T>A p.N919K Missense 19/25 - 1
10-34620125-C-T c.2753G>A p.C918Y Missense 19/25 - 1
10-34620136-T-C c.2742A>G p.R914= Synonymous 19/25 - 2
10-34620138-T-G c.2740A>C p.R914= Synonymous 19/25 - 2
10-34620139-G-A c.2739C>T p.I913= Synonymous 19/25 - 2
10-34620139-G-C c.2739C>G p.I913M Missense 19/25 - 1
10-34620139-G-T c.2739C>A p.I913= Synonymous 19/25 - 2
10-34620149-G-C c.2729C>G p.P910R Missense 19/25 - 1
10-34620150-G-A c.2728C>T p.P910S Missense 19/25 - 2
10-34620153-G-A c.2725C>T p.R909W Missense 19/25 - 1
10-34620153-G-GT c.2724dup p.R909Tfs*12 Frameshift 19/25 - 1
10-34620155-G-A c.2723C>T p.P908L Missense 19/25 - 3
10-34620156-G-A c.2722C>T p.P908S Missense 19/25 - 1
10-34620157-AC-TT c.2720_2721delinsAA p.R907Q Missense 19/25 - 1
10-34620157-A-G c.2721T>C p.R907= Synonymous 19/25 - 1
10-34620158-C-T c.2720G>A p.R907H Missense 19/25 - 1
10-34620159-G-A c.2719C>T p.R907C Missense 19/25 - 5
10-34620167-G-A c.2711C>T p.P904L Missense 19/25 - 1
10-34620168-G-C c.2710C>G p.P904A Missense 19/25 - 2
10-34620168-G-T c.2710C>A p.P904T Missense 19/25 - 2
10-34620172-A-AT c.2705dup p.D902Efs*19 Frameshift 19/25 - 1
10-34620173-T-A c.2705A>T p.D902V Missense 19/25 - 1
10-34620174-C-T c.2704G>A p.D902N Missense 19/25 - 1
10-34620177-C-T c.2701G>A p.G901R Missense 19/25 - 1
10-34620180-T-A c.2698A>T p.N900Y Missense 19/25 - 1
10-34620180-T-C c.2698A>G p.N900D Missense 19/25 - 1
10-34620189-C-G c.2689G>C p.V897L Missense 19/25 - 1
10-34620196-A-G c.2682T>C p.V894= Synonymous 19/25 - 1
10-34620200-G-C c.2678C>G p.A893G Missense 19/25 - 1
10-34620201-C-A c.2677G>T p.A893S Missense 19/25 - 1
10-34620201-C-G c.2677G>C p.A893P Missense 19/25 - 1
10-34620201-C-T c.2677G>A p.A893T Missense 19/25 - 1
10-34620202-G-A c.2676C>T p.T892= Synonymous 19/25 - 1
10-34620202-G-C c.2676C>G p.T892= Synonymous 19/25 - 1
10-34620202-G-T c.2676C>A p.T892= Synonymous 19/25 - 1
10-34620210-G-T c.2668C>A p.L890M Missense 19/25 - 1
10-34620211-A-C c.2667T>G p.S889R Missense 19/25 - 1
10-34620211-A-G c.2667T>C p.S889= Synonymous 19/25 - 12
10-34620215-T-C c.2663A>G p.E888G Missense 19/25 - 1
10-34620220-C-A c.2658G>T p.S886= Synonymous 19/25 - 2
10-34620220-C-G c.2658G>C p.S886= Synonymous 19/25 - 2
10-34620220-C-T c.2658G>A p.S886= Synonymous 19/25 - 23
10-34620225-T-C c.2653A>G p.S885G Missense 19/25 - 1
10-34620232-C-T c.2646G>A p.K882= Synonymous 19/25 - 1
10-34620233-T-G c.2645A>C p.K882T Missense 19/25 - 1
10-34620238-A-G c.2640T>C p.G880= Synonymous 19/25 - 1
10-34620239-C-G c.2639G>C p.G880A Missense 19/25 - 1
10-34620239-C-T c.2639G>A p.G880D Missense 19/25 - 1
10-34620248-G-A c.2630C>T p.P877L Missense 19/25 - 2
10-34620249-G-A c.2629C>T p.P877S Missense 19/25 - 2
10-34620255-C-T c.2623G>A p.V875M Missense 19/25 - 1
10-34620260-C-A c.2618G>T p.R873I Missense 19/25 - 1
10-34620262-G-A c.2616C>T p.S872= Synonymous 19/25 - 1
10-34620334-T-C c.2606-62A>G - IntronicSNV - 18/24 1
10-34623196-A-G c.2605+1931T>C - IntronicSNV - 18/24 1
10-34625127-C-A c.2605G>T p.G869C Missense 18/25 - 1
10-34625137-G-A c.2595C>T p.D865= Synonymous 18/25 - 1
10-34625147-G-A c.2585C>T p.T862I Missense 18/25 - 1
10-34625148-T-C c.2584A>G p.T862A Missense 18/25 - 1
10-34625151-T-A c.2581A>T p.N861Y Missense 18/25 - 2
10-34625152-GAG-CAT c.2578_2580delinsATG p.L860M Missense 18/25 - 1
10-34625159-G-C c.2573C>G p.T858S Missense 18/25 - 2
10-34625160-T-A c.2572A>T p.T858S Missense 18/25 - 3
10-34625164-G-A c.2568C>T p.D856= Synonymous 18/25 - 1
10-34625164-G-C c.2568C>G p.D856E Missense 18/25 - 1
10-34625166-C-T c.2566G>A p.D856N Missense 18/25 - 1
10-34625170-T-A c.2562A>T p.I854= Synonymous 18/25 - 2
10-34625170-T-C c.2562A>G p.I854M Missense 18/25 - 1
10-34625170-T-G c.2562A>C p.I854= Synonymous 18/25 - 2
10-34626113-A-G c.2560+90T>C - IntronicSNV - 17/24 2
10-34626206-C-T c.2557G>A p.G853S Missense 17/25 - 1
10-34626212-C-G c.2551G>C p.D851H Missense 17/25 - 1
10-34626221-T-C c.2542A>G p.K848E Missense 17/25 - 1
10-34626223-G-A c.2540C>T p.S847L Missense 17/25 - 1
10-34626230-G-A c.2533C>T p.R845* Nonsense 17/25 - 2
10-34626230-G-C c.2533C>G p.R845G Missense 17/25 - 1
10-34626230-G-T c.2533C>A p.R845= Synonymous 17/25 - 1
10-34626239-C-A c.2524G>T p.V842F Missense 17/25 - 1
10-34626240-G-A c.2523C>T p.F841= Synonymous 17/25 - 1
10-34626240-G-T c.2523C>A p.F841L Missense 17/25 - 1
10-34626244-T-C c.2519A>G p.D840G Missense 17/25 - 1
10-34626245-C-T c.2518G>A p.D840N Missense 17/25 - 1
10-34626250-T-A c.2513A>T p.Q838L Missense 17/25 - 1
10-34626257-C-T c.2506G>A p.A836T Missense 17/25 - 1
10-34626260-C-CT c.2502dup p.D835Rfs*9 Frameshift 17/25 - 1
10-34626269-G-T c.2494C>A p.Q832K Missense 17/25 - 1
10-34626270-C-T c.2493G>A p.K831= Synonymous 17/25 - 1
10-34626274-G-C c.2489C>G p.T830R Missense 17/25 - 1
10-34626285-TG-AT c.2477_2478delinsAT p.S826Y Missense 17/25 - 1
10-34626286-G-A c.2477C>T p.S826L Missense 17/25 - 1
10-34626288-C-A c.2475G>T p.M825I Missense 17/25 - 1
10-34626288-C-G c.2475G>C p.M825I Missense 17/25 - 1
10-34626288-C-T c.2475G>A p.M825I Missense 17/25 - 1
10-34626296-G-A c.2467C>T p.Q823* Nonsense 17/25 - 1
10-34626296-G-C c.2467C>G p.Q823E Missense 17/25 - 1
10-34626297-AC-TT c.2465_2466delinsAA p.R822Q Missense 17/25 - 1
10-34626298-C-T c.2465G>A p.R822H Missense 17/25 - 1
10-34626299-G-A c.2464C>T p.R822C Missense 17/25 - 1
10-34626317-G-A c.2446C>T p.Q816* Nonsense 17/25 - 1
10-34626319-AA-GC c.2443_2444delinsGC p.F815A Missense 17/25 - 1
10-34626322-G-A c.2441C>T p.A814V Missense 17/25 - 1
10-34626326-G-A c.2437C>T p.L813F Missense 17/25 - 3
10-34626326-G-C c.2437C>G p.L813V Missense 17/25 - 1
10-34626329-C-A c.2434G>T p.V812F Missense 17/25 - 1
10-34626331-G-A c.2432C>T p.P811L Missense 17/25 - 1
10-34630562-C-G c.2401G>C p.A801P Missense 16/25 - 1
10-34630562-C-T c.2401G>A p.A801T Missense 16/25 - 1
10-34630563-CTGA-C c.2398_2400del p.S800del InFrameDeletion 16/25 - 1
10-34630570-C-T c.2393G>A p.S798N Missense 16/25 - 6
10-34630570-CT-GG c.2392_2393delinsCC p.S798P Missense 16/25 - 1
10-34630574-T-C c.2389A>G p.I797V Missense 16/25 - 1
10-34630580-C-A c.2383G>T p.A795S Missense 16/25 - 1
10-34630581-C-T c.2382G>A p.K794= Synonymous 16/25 - 1
10-34630591-G-GT c.2371dup p.T791Nfs*9 Frameshift 16/25 - 1
10-34630596-A-G c.2367T>C p.A789= Synonymous 16/25 - 1
10-34630606-G-A c.2357C>T p.T786M Missense 16/25 - 1
10-34630608-CAC-AAA c.2353_2355delinsTTT p.V785F Missense 16/25 - 1
10-34630627-T-C c.2336A>G p.H779R Missense 16/25 - 1
10-34630636-GA-AG c.2326_2327delinsCT p.S776L Missense 16/25 - 1
10-34630642-G-C c.2321C>G p.S774C Missense 16/25 - 1
10-34630642-G-T c.2321C>A p.S774Y Missense 16/25 - 1
10-34630644-C-CT c.2318dup p.S774Vfs*7 Frameshift 16/25 - 1
10-34630651-G-T c.2312C>A p.S771Y Missense 16/25 - 1
10-34630655-G-C c.2308C>G p.L770V Missense 16/25 - 1
10-34630656-A-G c.2307T>C p.H769= Synonymous 16/25 - 1
10-34630662-A-C c.2301T>G p.P767= Synonymous 16/25 - 3
10-34630662-A-G c.2301T>C p.P767= Synonymous 16/25 - 3
10-34630662-A-T c.2301T>A p.P767= Synonymous 16/25 - 3
10-34630683-A-T c.2280T>A p.D760E Missense 16/25 - 1
10-34630689-T-G c.2274A>C p.I758= Synonymous 16/25 - 1
10-34630690-A-G c.2273T>C p.I758T Missense 16/25 - 1
10-34630697-C-T c.2266G>A p.V756I Missense 16/25 - 1
10-34630699-G-A c.2264C>T p.T755I Missense 16/25 - 3
10-34630700-T-G c.2263A>C p.T755P Missense 16/25 - 1
10-34630704-A-G c.2259T>C p.D753= Synonymous 16/25 - 1
10-34630712-G-C c.2251C>G p.P751A Missense 16/25 - 1
10-34630712-G-T c.2251C>A p.P751T Missense 16/25 - 1
10-34630717-T-G c.2246A>C p.N749T Missense 16/25 - 1
10-34630726-G-A c.2237C>T p.P746L Missense 16/25 - 1
10-34630732-A-T c.2231T>A p.L744Q Missense 16/25 - 1
10-34630744-C-A c.2219G>T p.G740V Missense 16/25 - 1
10-34631239-A-G c.2219-495T>C - IntronicSNV - 15/24 1
10-34631466-A-C c.2219-722T>G - IntronicSNV - 15/24 1
10-34631489-A-G c.2219-745T>C - IntronicSNV - 15/24 1
10-34633515-G-A c.2219-2771C>T - IntronicSNV - 15/24 1
10-34635319-C-A c.2218+1574G>T - IntronicSNV - 15/24 2
10-34635319-C-T c.2218+1574G>A - IntronicSNV - 15/24 2
10-34635579-G-A c.2218+1314C>T - IntronicSNV - 15/24 2
10-34635595-G-C c.2218+1298C>G - IntronicSNV - 15/24 2
10-34636820-C-T c.2218+73G>A - IntronicSNV - 15/24 1
10-34636893-C-G c.2218G>C p.G740R Missense 15/25 - 1
10-34636893-C-T c.2218G>A p.G740S Missense 15/25 - 1
10-34636896-T-C c.2215A>G p.M739V Missense 15/25 - 1
10-34636899-T-C c.2212A>G p.I738V Missense 15/25 - 1
10-34636901-CT-TG c.2209_2210delinsCA p.R737Q Missense 15/25 - 1
10-34636905-T-C c.2206A>G p.S736G Missense 15/25 - 1
10-34636906-G-A c.2205C>T p.L735= Synonymous 15/25 - 1
10-34636906-G-C c.2205C>G p.L735= Synonymous 15/25 - 1
10-34636906-G-T c.2205C>A p.L735= Synonymous 15/25 - 1
10-34636908-G-T c.2203C>A p.L735I Missense 15/25 - 1
10-34636910-G-A c.2201C>T p.A734V Missense 15/25 - 3
10-34636910-G-C c.2201C>G p.A734G Missense 15/25 - 1
10-34636918-TCT-ATG c.2191_2193delinsCAT p.R731H Missense 15/25 - 1
10-34636919-CT-TG c.2191_2192delinsCA p.R731Q Missense 15/25 - 1
10-34636922-C-T c.2189G>A p.S730N Missense 15/25 - 1
10-34636927-C-A c.2184G>T p.S728= Synonymous 15/25 - 1
10-34636927-C-G c.2184G>C p.S728= Synonymous 15/25 - 1
10-34636927-C-T c.2184G>A p.S728= Synonymous 15/25 - 1
10-34636928-G-A c.2183C>T p.S728L Missense 15/25 - 3
10-34636934-T-C c.2177A>G p.D726G Missense 15/25 - 1
10-34636935-C-A c.2176G>T p.D726Y Missense 15/25 - 1
10-34636941-C-A c.2170G>T p.G724W Missense 15/25 - 1
10-34636942-C-T c.2169G>A p.E723= Synonymous 15/25 - 1
10-34636948-C-T c.2163G>A p.G721= Synonymous 15/25 - 1
10-34636949-C-G c.2162G>C p.G721A Missense 15/25 - 1
10-34636950-C-T c.2161G>A p.G721R Missense 15/25 - 2
10-34636950-C-CA c.2160dup p.G721Wfs*3 Frameshift 15/25 - 1
10-34636952-C-T c.2159G>A p.S720N Missense 15/25 - 1
10-34636954-G-A c.2157C>T p.Y719= Synonymous 15/25 - 1
10-34636955-T-A c.2156A>T p.Y719F Missense 15/25 - 2
10-34636958-A-G c.2153T>C p.L718P Missense 15/25 - 1
10-34636960-G-A c.2151C>T p.S717= Synonymous 15/25 - 1
10-34636960-G-C c.2151C>G p.S717= Synonymous 15/25 - 1
10-34636960-G-T c.2151C>A p.S717= Synonymous 15/25 - 1
10-34636961-G-A c.2150C>T p.S717F Missense 15/25 - 1
10-34636961-GA-AT c.2149_2150delinsAT p.S717I Missense 15/25 - 1
10-34636970-A-G c.2141T>C p.I714T Missense 15/25 - 1
10-34636976-C-T c.2135G>A p.R712Q Missense 15/25 - 6
10-34636986-C-T c.2125G>A p.D709N Missense 15/25 - 3
10-34636988-T-C c.2123A>G p.D708G Missense 15/25 - 1
10-34636994-G-A c.2117C>T p.A706V Missense 15/25 - 2
10-34636995-C-T c.2116G>A p.A706T Missense 15/25 - 1
10-34637001-C-T c.2110G>A p.E704K Missense 15/25 - 3
10-34637007-G-A c.2104C>T p.P702S Missense 15/25 - 2
10-34637011-C-A c.2100G>T p.E700D Missense 15/25 - 1
10-34637017-T-A c.2094A>T p.G698= Synonymous 15/25 - 1
10-34637017-T-C c.2094A>G p.G698= Synonymous 15/25 - 1
10-34637017-T-G c.2094A>C p.G698= Synonymous 15/25 - 1
10-34637019-C-CA c.2091dup p.G698Wfs*3 Frameshift 15/25 - 1
10-34637020-A-AG c.2090dup p.G698Wfs*3 Frameshift 15/25 - 1
10-34637020-AG-A c.2090del p.P697Lfs*42 Frameshift 15/25 - 2
10-34637026-G-A c.2085C>T p.S695= Synonymous 15/25 - 1
10-34637027-C-T c.2084G>A p.S695N Missense 15/25 - 1
10-34637028-T-A c.2083A>T p.S695C Missense 15/25 - 1
10-34637030-C-T c.2081G>A p.G694E Missense 15/25 - 1
10-34637034-G-A c.2077C>T p.P693S Missense 15/25 - 1
10-34637040-T-C c.2071A>G p.K691E Missense 15/25 - 1
10-34638005-A-G c.2068-962T>C - IntronicSNV - 14/24 1
10-34638005-A-T c.2068-962T>A - IntronicSNV - 14/24 1
10-34642656-A-T c.2067+5419T>A - IntronicSNV - 14/24 1
10-34648047-G-A c.2067+28C>T - IntronicSNV - 14/24 1
10-34648076-T-C c.2066A>G p.E689G Missense 14/25 - 2
10-34648080-T-A c.2062A>T p.N688Y Missense 14/25 - 1
10-34648080-T-G c.2062A>C p.N688H Missense 14/25 - 1
10-34648082-C-A c.2060G>T p.C687F Missense 14/25 - 1
10-34648090-TA-GC c.2051_2052delinsGC p.I684S Missense 14/25 - 1
10-34648100-G-C c.2042C>G p.A681G Missense 14/25 - 1
10-34648101-C-T c.2041G>A p.A681T Missense 14/25 - 1
10-34648103-A-C c.2039T>G p.V680G Missense 14/25 - 1
10-34648104-C-A c.2038G>T p.V680F Missense 14/25 - 1
10-34648109-A-T c.2033T>A p.L678H Missense 14/25 - 1
10-34648110-G-A c.2032C>T p.L678F Missense 14/25 - 1
10-34648111-C-A c.2031G>T p.Q677H Missense 14/25 - 1
10-34648111-C-G c.2031G>C p.Q677H Missense 14/25 - 1
10-34648115-A-T c.2027T>A p.I676N Missense 14/25 - 1
10-34648116-T-C c.2026A>G p.I676V Missense 14/25 - 1
10-34648119-T-C c.2023A>G p.M675V Missense 14/25 - 1
10-34648120-TCC-CCA c.2020_2022delinsTGG p.G674W Missense 14/25 - 1
10-34648121-C-A c.2021G>T p.G674V Missense 14/25 - 1
10-34648122-C-A c.2020G>T p.G674* Nonsense 14/25 - 1
10-34648132-G-A c.2010C>T p.G670= Synonymous 14/25 - 1
10-34648132-G-C c.2010C>G p.G670= Synonymous 14/25 - 1
10-34648132-G-T c.2010C>A p.G670= Synonymous 14/25 - 1
10-34648134-C-A c.2008G>T p.G670C Missense 14/25 - 1
10-34648134-C-T c.2008G>A p.G670S Missense 14/25 - 3
10-34648139-G-C c.2003C>G p.T668S Missense 14/25 - 1
10-34648141-A-C c.2001T>G p.S667= Synonymous 14/25 - 1
10-34648141-A-G c.2001T>C p.S667= Synonymous 14/25 - 1
10-34648141-A-T c.2001T>A p.S667= Synonymous 14/25 - 1
10-34648142-G-A c.2000C>T p.S667F Missense 14/25 - 2
10-34648142-G-C c.2000C>G p.S667C Missense 14/25 - 1
10-34648146-T-C c.1996A>G p.M666V Missense 14/25 - 1
10-34648150-CCT-ATG c.1990_1992delinsCAT p.R664H Missense 14/25 - 1
10-34648160-G-A c.1982C>T p.T661I Missense 14/25 - 2
10-34648160-G-C c.1982C>G p.T661S Missense 14/25 - 2
10-34648161-T-A c.1981A>T p.T661S Missense 14/25 - 1
10-34648161-T-TTTATGTGCTCATACAAAGGCTTACTACGCTAAAAAGAAG c.1980_1981insCTTCTTTTTAGCGTAGTAAGCCTTTGTATGAGCACATAA p.E660_T661insLLFSVVSLCMST* InFrameInsertion 14/25 - 1
10-34648170-C-G c.1972G>C p.A658P Missense 14/25 - 1
10-34648174-T-C c.1968A>G p.Q656= Synonymous 14/25 - 1
10-34648183-C-A c.1959G>T p.K653N Missense 14/25 - 2
10-34648183-C-G c.1959G>C p.K653N Missense 14/25 - 3
10-34648195-G-A c.1947C>T p.S649= Synonymous 14/25 - 3
10-34648197-A-T c.1945T>A p.S649T Missense 14/25 - 1
10-34648198-T-A c.1944A>T p.E648D Missense 14/25 - 2
10-34648198-T-G c.1944A>C p.E648D Missense 14/25 - 1
10-34648199-T-C c.1943A>G p.E648G Missense 14/25 - 1
10-34648200-C-T c.1942G>A p.E648K Missense 14/25 - 3
10-34648206-T-C c.1936A>G p.N646D Missense 14/25 - 1
10-34648209-C-T c.1933G>A p.V645I Missense 14/25 - 1
10-34648211-G-A c.1931C>T p.A644V Missense 14/25 - 3
10-34648212-C-G c.1930G>C p.A644P Missense 14/25 - 1
10-34648213-T-A c.1929A>T p.I643= Synonymous 14/25 - 1
10-34648213-T-G c.1929A>C p.I643= Synonymous 14/25 - 1
10-34648214-A-T c.1928T>A p.I643K Missense 14/25 - 1
10-34648216-CAG-GAT c.1924_1926delinsATC p.L642I Missense 14/25 - 1
10-34648213-TATCAGTTG-T c.1921_1928del p.Q641Sfs*26 Frameshift 14/25 - 1
10-34648221-G-A c.1921C>T p.Q641* Nonsense 14/25 - 2
10-34648224-C-T c.1918G>A p.D640N Missense 14/25 - 2
10-34648232-C-A c.1910G>T p.R637L Missense 14/25 - 1
10-34648232-C-T c.1910G>A p.R637Q Missense 14/25 - 2
10-34648233-G-A c.1909C>T p.R637W Missense 14/25 - 1
10-34648235-AG-CT c.1906_1907inv p.L636S Missense 14/25 - 1
10-34648238-C-T c.1904G>A p.R635K Missense 14/25 - 5
10-34648242-C-T c.1900G>A p.G634R Missense 14/25 - 1
10-34649003-G-C c.1892C>G p.S631C Missense 13/25 - 2
10-34649007-C-T c.1888G>A p.A630T Missense 13/25 - 1
10-34649012-C-G c.1883G>C p.G628A Missense 13/25 - 1
10-34649013-C-G c.1882G>C p.G628R Missense 13/25 - 1
10-34649018-T-C c.1877A>G p.N626S Missense 13/25 - 1
10-34649023-A-C c.1872T>G p.I624M Missense 13/25 - 1
10-34649024-A-T c.1871T>A p.I624N Missense 13/25 - 1
10-34649031-T-C c.1864A>G p.K622E Missense 13/25 - 1
10-34649032-G-A c.1863C>T p.V621= Synonymous 13/25 - 2
10-34649032-G-C c.1863C>G p.V621= Synonymous 13/25 - 3
10-34649032-G-T c.1863C>A p.V621= Synonymous 13/25 - 2
10-34649036-A-AATTTAGATGCTGCTCCTCCATTAATAATGGACTTGACAAAGATTCCCAAATCTGCGTGGTTCTCTTTTG c.1858_1859insCAAAAGAGAACCACGCAGATTTGGGAATCTTTGTCAAGTCCATTATTAATGGAGGAGCAGCATCTAAAT p.I619_F620insSKENHADLGIFVKSIINGGAASK InFrameInsertion 13/25 - 1
10-34649046-A-C c.1849T>G p.L617V Missense 13/25 - 1
10-34649044-CA-C c.1850del p.L617Wfs*22 Frameshift 13/25 - 1
10-34649048-T-G c.1847A>C p.D616A Missense 13/25 - 1
10-34649051-G-A c.1844C>T p.A615V Missense 13/25 - 1
10-34649052-C-T c.1843G>A p.A615T Missense 13/25 - 1
10-34649056-G-A c.1839C>T p.N613= Synonymous 13/25 - 1
10-34649059-C-A c.1836G>T p.E612D Missense 13/25 - 1
10-34649059-C-G c.1836G>C p.E612D Missense 13/25 - 1
10-34649059-C-T c.1836G>A p.E612= Synonymous 13/25 - 1
10-34649061-C-T c.1834G>A p.E612K Missense 13/25 - 1
10-34649065-T-A c.1830A>T p.S610= Synonymous 13/25 - 1
10-34649065-T-C c.1830A>G p.S610= Synonymous 13/25 - 1
10-34649065-T-G c.1830A>C p.S610= Synonymous 13/25 - 1
10-34649066-G-C c.1829C>G p.S610* Nonsense 13/25 - 2
10-34649066-G-T c.1829C>A p.S610* Nonsense 13/25 - 2
10-34649068-C-A c.1827G>T p.R609= Synonymous 13/25 - 1
10-34649068-C-G c.1827G>C p.R609= Synonymous 13/25 - 1
10-34649068-C-T c.1827G>A p.R609= Synonymous 13/25 - 1
10-34649070-G-A c.1825C>T p.R609W Missense 13/25 - 1
10-34649070-G-T c.1825C>A p.R609= Synonymous 13/25 - 1
10-34649084-C-G c.1811G>C p.S604T Missense 13/25 - 1
10-34649090-C-T c.1805G>A p.G602D Missense 13/25 - 1
10-34649094-G-A c.1801C>T p.L601F Missense 13/25 - 2
10-34649095-G-A c.1800C>T p.G600= Synonymous 13/25 - 1
10-34649095-G-C c.1800C>G p.G600= Synonymous 13/25 - 1
10-34649095-G-T c.1800C>A p.G600= Synonymous 13/25 - 1
10-34649097-C-T c.1798G>A p.G600S Missense 13/25 - 2
10-34649110-A-T c.1785T>A p.D595E Missense 13/25 - 1
10-34649111-T-A c.1784A>T p.D595V Missense 13/25 - 1
10-34649111-T-C c.1784A>G p.D595G Missense 13/25 - 1
10-34649112-C-T c.1783G>A p.D595N Missense 13/25 - 4
10-34649118-G-A c.1777C>T p.L593F Missense 13/25 - 1
10-34649121-G-A c.1774C>T p.P592S Missense 13/25 - 1
10-34649123-A-T c.1772T>A p.V591D Missense 13/25 - 1
10-34649127-C-A c.1768G>T p.E590* Nonsense 13/25 - 2
10-34649127-C-T c.1768G>A p.E590K Missense 13/25 - 1
10-34649134-C-A c.1761G>T p.L587= Synonymous 13/25 - 1
10-34649134-C-G c.1761G>C p.L587= Synonymous 13/25 - 1
10-34649134-C-T c.1761G>A p.L587= Synonymous 13/25 - 1
10-34649136-G-A c.1759C>T p.L587= Synonymous 13/25 - 1
10-34649140-T-A c.1755A>T p.E585D Missense 13/25 - 1
10-34649140-T-G c.1755A>C p.E585D Missense 13/25 - 1
10-34649142-C-T c.1753G>A p.E585K Missense 13/25 - 1
10-34649141-TC-T c.1753del p.E585Nfs*3 Frameshift 13/25 - 1
10-34649146-G-C c.1749C>G p.T583= Synonymous 13/25 - 2
10-34649148-T-C c.1747A>G p.T583A Missense 13/25 - 2
10-34649149-GCC-CCA c.1744_1746delinsTGG p.G582W Missense 13/25 - 1
10-34649151-C-T c.1744G>A p.G582S Missense 13/25 - 1
10-34649152-A-C c.1743T>G p.D581E Missense 13/25 - 1
10-34649152-A-T c.1743T>A p.D581E Missense 13/25 - 1
10-34649154-C-T c.1741G>A p.D581N Missense 13/25 - 5
10-34649158-T-A c.1737A>T p.T579= Synonymous 13/25 - 1
10-34649158-T-C c.1737A>G p.T579= Synonymous 13/25 - 1
10-34649158-T-G c.1737A>C p.T579= Synonymous 13/25 - 1
10-34649166-C-A c.1729G>T p.V577F Missense 13/25 - 1
10-34649166-C-G c.1729G>C p.V577L Missense 13/25 - 1
10-34649169-T-TTTTAGATGCTGCTCCTCCATTAATAATGGACTTGACAAAGATTCCCAAATCTGCGTGGTTCTCTTTTGA c.1725_1726insTCAAAAGAGAACCACGCAGATTTGGGAATCTTTGTCAAGTCCATTATTAATGGAGGAGCAGCATCTAAA p.D575_I576insSKENHADLGIFVKSIINGGAASK InFrameInsertion 13/25 - 1
10-34649171-T-C c.1724A>G p.D575G Missense 13/25 - 1
10-34649171-T-G c.1724A>C p.D575A Missense 13/25 - 1
10-34649172-C-T c.1723G>A p.D575N Missense 13/25 - 3
10-34649173-C-T c.1722G>A p.E574= Synonymous 13/25 - 1
10-34649178-C-A c.1717G>T p.D573Y Missense 13/25 - 4
10-34658847-C-T c.1707+2579G>A - IntronicSNV - 12/24 1
10-34660134-T-C c.1707+1292A>G - IntronicSNV - 12/24 1
10-34660461-C-A c.1707+965G>T - IntronicSNV - 12/24 1
10-34661419-C-T c.1707+7G>A - IntronicSNV - 12/24 1
10-34661426-CG-GA c.1706_1707delinsTC p.T569I Missense 12/25 - 1
10-34661426-C-T c.1707G>A p.T569= Synonymous 12/25 - 1
10-34661431-C-A c.1702G>T p.E568* Nonsense 12/25 - 2
10-34661431-C-CA c.1701_1702insT p.E568* Nonsense 12/25 - 1
10-34661431-C-T c.1702G>A p.E568K Missense 12/25 - 2
10-34661435-T-G c.1698A>C p.P566= Synonymous 12/25 - 1
10-34661436-G-A c.1697C>T p.P566L Missense 12/25 - 2
10-34661440-T-C c.1693A>G p.I565V Missense 12/25 - 1
10-34661452-T-G c.1681A>C p.S561R Missense 12/25 - 1
10-34661455-G-A c.1678C>T p.P560S Missense 12/25 - 1
10-34661455-G-T c.1678C>A p.P560T Missense 12/25 - 1
10-34661461-C-T c.1672G>A p.A558T Missense 12/25 - 1
10-34661555-G-C c.1669-91C>G - IntronicSNV - 11/24 6
10-34663795-TTACACAC-T c.1668+1_1668+7del - SpliceDonorDeletion - 11/24 2
10-34663804-G-C c.1666C>G p.L556V Missense 11/25 - 1
10-34663807-C-T c.1663G>A p.E555K Missense 11/25 - 6
10-34663808-C-T c.1662G>A p.R554= Synonymous 11/25 - 4
10-34663815-T-A c.1655A>T p.H552L Missense 11/25 - 1
10-34663823-G-A c.1647C>T p.D549= Synonymous 11/25 - 3
10-34663825-C-T c.1645G>A p.D549N Missense 11/25 - 1
10-34663827-T-G c.1643A>C p.E548A Missense 11/25 - 1
10-34663830-T-C c.1640A>G p.Q547R Missense 11/25 - 1
10-34663832-G-A c.1638C>T p.R546= Synonymous 11/25 - 3
10-34663832-G-C c.1638C>G p.R546= Synonymous 11/25 - 2
10-34663832-G-T c.1638C>A p.R546= Synonymous 11/25 - 2
10-34663833-C-T c.1637G>A p.R546H Missense 11/25 - 1
10-34663834-G-A c.1636C>T p.R546C Missense 11/25 - 4
10-34663836-A-C c.1634T>G p.F545C Missense 11/25 - 1
10-34663838-G-A c.1632C>T p.V544= Synonymous 11/25 - 1
10-34663841-C-T c.1629G>A p.L543= Synonymous 11/25 - 1
10-34663842-AG-GC c.1627_1628delinsGC p.L543A Missense 11/25 - 1
10-34663843-G-A c.1627C>T p.L543= Synonymous 11/25 - 1
10-34663846-G-A c.1624C>T p.L542F Missense 11/25 - 2
10-34663848-CT-AA c.1621_1622delinsTT p.S541F Missense 11/25 - 1
10-34663850-TCAC-T c.1618_1620del p.V540del InFrameDeletion 11/25 - 1
10-34663855-T-A c.1615A>T p.T539S Missense 11/25 - 1
10-34663858-C-T c.1612G>A p.G538R Missense 11/25 - 1
10-34663861-C-T c.1609G>A p.E537K Missense 11/25 - 1
10-34663868-GG-CA c.1601_1602delinsTG p.T534M Missense 11/25 - 1
10-34663869-G-C c.1601C>G p.T534S Missense 11/25 - 1
10-34663870-T-A c.1600A>T p.T534S Missense 11/25 - 1
10-34663872-C-T c.1598G>A p.S533N Missense 11/25 - 3
10-34663874-TCT-CCA c.1594_1596delinsTGG p.R532W Missense 11/25 - 1
10-34663875-C-T c.1595G>A p.R532K Missense 11/25 - 1
10-34663880-C-A c.1590G>T p.L530= Synonymous 11/25 - 1
10-34663880-C-G c.1590G>C p.L530= Synonymous 11/25 - 1
10-34663880-C-T c.1590G>A p.L530= Synonymous 11/25 - 1
10-34663882-G-A c.1588C>T p.L530= Synonymous 11/25 - 1
10-34663884-G-A c.1586C>T p.S529L Missense 11/25 - 10
10-34663886-A-C c.1584T>G p.V528= Synonymous 11/25 - 1
10-34663886-A-G c.1584T>C p.V528= Synonymous 11/25 - 1
10-34663886-A-T c.1584T>A p.V528= Synonymous 11/25 - 1
10-34663887-ACAACTTCCTCTTGGGATTTGCC-A c.1561_1582del p.G521Ffs*4 Frameshift 11/25 - 1
10-34663897-C-T c.1573G>A p.E525K Missense 11/25 - 1
10-34663908-C-T c.1562G>A p.G521D Missense 11/25 - 4
10-34663915-A-T c.1555T>A p.L519I Missense 11/25 - 2
10-34663916-A-C c.1554T>G p.D518E Missense 11/25 - 1
10-34663916-A-T c.1554T>A p.D518E Missense 11/25 - 1
10-34663920-A-G c.1550T>C p.V517A Missense 11/25 - 1
10-34663923-C-A c.1547G>T p.G516V Missense 11/25 - 4
10-34663924-C-G c.1546G>C p.G516R Missense 11/25 - 1
10-34663924-C-T c.1546G>A p.G516R Missense 11/25 - 1
10-34666864-C-T c.1539+31G>A - IntronicSNV - 10/24 7
10-34666897-C-T c.1537G>A p.E513K Missense 10/25 - 1
10-34666899-A-G c.1535T>C p.I512T Missense 10/25 - 1
10-34666905-C-T c.1529G>A p.R510K Missense 10/25 - 1
10-34666910-T-A c.1524A>T p.G508= Synonymous 10/25 - 1
10-34666910-T-C c.1524A>G p.G508= Synonymous 10/25 - 1
10-34666910-T-G c.1524A>C p.G508= Synonymous 10/25 - 1
10-34666911-C-T c.1523G>A p.G508E Missense 10/25 - 2
10-34666913-T-A c.1521A>T p.A507= Synonymous 10/25 - 1
10-34666914-G-A c.1520C>T p.A507V Missense 10/25 - 3
10-34666915-C-A c.1519G>T p.A507S Missense 10/25 - 1
10-34666916-C-A c.1518G>T p.K506N Missense 10/25 - 2
10-34666916-C-G c.1518G>C p.K506N Missense 10/25 - 2
10-34666916-C-T c.1518G>A p.K506= Synonymous 10/25 - 1
10-34666923-C-T c.1511G>A p.R504Q Missense 10/25 - 2
10-34666924-G-A c.1510C>T p.R504* Nonsense 10/25 - 1
10-34666926-C-T c.1508G>A p.G503D Missense 10/25 - 1
10-34666931-C-A c.1503G>T p.Q501H Missense 10/25 - 1
10-34666932-T-C c.1502A>G p.Q501R Missense 10/25 - 2
10-34666938-G-A c.1496C>T p.A499V Missense 10/25 - 2
10-34666940-CGC-ACA c.1492_1494delinsTGT p.A498C Missense 10/25 - 1
10-34666941-G-A c.1493C>T p.A498V Missense 10/25 - 5
10-34666941-G-C c.1493C>G p.A498G Missense 10/25 - 2
10-34666942-C-A c.1492G>T p.A498S Missense 10/25 - 1
10-34666943-C-A c.1491G>T p.G497= Synonymous 10/25 - 2
10-34666943-C-G c.1491G>C p.G497= Synonymous 10/25 - 1
10-34666943-C-T c.1491G>A p.G497= Synonymous 10/25 - 1
10-34666944-C-A c.1490G>T p.G497V Missense 10/25 - 1
10-34666944-C-T c.1490G>A p.G497E Missense 10/25 - 2
10-34666941-GC-G c.1492del p.A498Rfs*15 Frameshift 10/25 - 1
10-34666941-G-GC c.1492dup p.A498Gfs*9 Frameshift 10/25 - 3
10-34666947-C-G c.1487G>C p.R496P Missense 10/25 - 1
10-34666947-CG-TA c.1486_1487delinsTA p.R496* Nonsense 10/25 - 1
10-34666947-C-T c.1487G>A p.R496Q Missense 10/25 - 5
10-34666946-C-A c.1488G>T p.R496= Synonymous 10/25 - 1
10-34666946-C-G c.1488G>C p.R496= Synonymous 10/25 - 1
10-34666946-C-T c.1488G>A p.R496= Synonymous 10/25 - 1
10-34666948-G-A c.1486C>T p.R496W Missense 10/25 - 2
10-34666948-G-T c.1486C>A p.R496= Synonymous 10/25 - 1
10-34666950-G-A c.1484C>T p.P495L Missense 10/25 - 2
10-34666951-G-C c.1483C>G p.P495A Missense 10/25 - 1
10-34666947-CG-C c.1486del p.R496Gfs*17 Frameshift 10/25 - 1
10-34666952-G-A c.1482C>T p.L494= Synonymous 10/25 - 2
10-34666952-G-C c.1482C>G p.L494= Synonymous 10/25 - 1
10-34666952-G-T c.1482C>A p.L494= Synonymous 10/25 - 1
10-34666958-G-C c.1476C>G p.N492K Missense 10/25 - 1
10-34666958-G-T c.1476C>A p.N492K Missense 10/25 - 1
10-34666960-T-C c.1474A>G p.N492D Missense 10/25 - 1
10-34666962-T-C c.1472A>G p.K491R Missense 10/25 - 1
10-34666965-A-T c.1469T>A p.V490E Missense 10/25 - 2
10-34666966-C-A c.1468G>T p.V490L Missense 10/25 - 1
10-34666972-T-C c.1462A>G p.I488V Missense 10/25 - 1
10-34666974-G-T c.1460C>A p.P487Q Missense 10/25 - 1
10-34666980-G-A c.1454C>T p.S485L Missense 10/25 - 3
10-34666992-G-T c.1442C>A p.T481K Missense 10/25 - 1
10-34667000-TCT-ATG c.1432_1434delinsCAT p.R478H Missense 10/25 - 1
10-34667001-C-A c.1433G>T p.R478I Missense 10/25 - 1
10-34667004-G-A c.1430C>T p.S477F Missense 10/25 - 1
10-34667004-GA-AG c.1429_1430delinsCT p.S477L Missense 10/25 - 1
10-34667011-T-C c.1423A>G p.I475V Missense 10/25 - 1
10-34667020-C-G c.1414G>C p.G472R Missense 10/25 - 1
10-34667020-C-T c.1414G>A p.G472R Missense 10/25 - 1
10-34667022-A-G c.1412T>C p.L471S Missense 10/25 - 1
10-34667026-C-T c.1408G>A p.G470S Missense 10/25 - 2
10-34667031-G-A c.1403C>T p.T468I Missense 10/25 - 1
10-34667034-C-A c.1400G>T p.G467V Missense 10/25 - 2
10-34667034-C-T c.1400G>A p.G467D Missense 10/25 - 2
10-34669593-T-C c.1399+1875A>G - IntronicSNV - 9/24 1
10-34671259-T-G c.1399+209A>C - IntronicSNV - 9/24 2
10-34671468-C-T c.1399G>A p.G467S Missense 9/25 - 2
10-34671473-T-C c.1394A>G p.K465R Missense 9/25 - 1
10-34671475-A-G c.1392T>C p.L464= Synonymous 9/25 - 1
10-34671476-A-C c.1391T>G p.L464R Missense 9/25 - 3
10-34671478-C-A c.1389G>T p.Q463H Missense 9/25 - 4
10-34671478-C-G c.1389G>C p.Q463H Missense 9/25 - 2
10-34671480-G-A c.1387C>T p.Q463* Nonsense 9/25 - 1
10-34671483-T-C c.1384A>G p.I462V Missense 9/25 - 1
10-34671489-G-A c.1378C>T p.L460F Missense 9/25 - 1
10-34671489-G-T c.1378C>A p.L460I Missense 9/25 - 1
10-34671490-C-T c.1377G>A p.R459= Synonymous 9/25 - 2
10-34671491-C-G c.1376G>C p.R459T Missense 9/25 - 1
10-34671491-CT-TG c.1375_1376delinsCA p.R459Q Missense 9/25 - 1
10-34671492-T-A c.1375A>T p.R459W Missense 9/25 - 2
10-34671496-GC-CT c.1370_1371delinsAG p.G457E Missense 9/25 - 1
10-34671497-C-A c.1370G>T p.G457V Missense 9/25 - 2
10-34671497-C-T c.1370G>A p.G457D Missense 9/25 - 2
10-34671498-C-A c.1369G>T p.G457C Missense 9/25 - 3
10-34671498-C-T c.1369G>A p.G457S Missense 9/25 - 2
10-34671500-AT-TA c.1366_1367delinsTA p.I456* Nonsense 9/25 - 3
10-34671501-T-A c.1366A>T p.I456L Missense 9/25 - 1
10-34671501-T-TTA c.1365_1366insTA p.I456* Nonsense 9/25 - 1
10-34671502-T-A c.1365A>T p.K455N Missense 9/25 - 1
10-34671502-T-G c.1365A>C p.K455N Missense 9/25 - 2
10-34671503-T-A c.1364A>T p.K455I Missense 9/25 - 1
10-34671505-T-TC c.1361_1362insG p.I456Nfs*6 Frameshift 9/25 - 2
10-34671500-A-AT c.1366dup p.I456Nfs*6 Frameshift 9/25 - 2
10-34671500-AT-A c.1366del p.I456* Frameshift 9/25 - 2
10-34671511-G-A c.1356C>T p.N452= Synonymous 9/25 - 1
10-34671511-GTT-CTC c.1354_1356delinsGAG p.N452E Missense 9/25 - 1
10-34671513-T-C c.1354A>G p.N452D Missense 9/25 - 5
10-34671515-T-C c.1352A>G p.Y451C Missense 9/25 - 3
10-34671516-A-G c.1351T>C p.Y451H Missense 9/25 - 3
10-34671522-T-C c.1345A>G p.S449G Missense 9/25 - 1
10-34671524-CT-AA c.1342_1343delinsTT p.S448F Missense 9/25 - 1
10-34671528-C-T c.1339G>A p.V447I Missense 9/25 - 1
10-34671530-G-A c.1337C>T p.T446I Missense 9/25 - 1
10-34671536-CT-TA c.1330_1331delinsTA p.S444Y Missense 9/25 - 1
10-34671538-A-G c.1329T>C p.F443= Synonymous 9/25 - 1
10-34671545-T-A c.1322A>T p.N441I Missense 9/25 - 1
10-34671549-G-A c.1318C>T p.Q440* Nonsense 9/25 - 1
10-34671549-G-C c.1318C>G p.Q440E Missense 9/25 - 1
10-34671551-G-C c.1316C>G p.P439R Missense 9/25 - 1
10-34671554-G-T c.1313C>A p.A438E Missense 9/25 - 1
10-34671556-C-A c.1311G>T p.S437= Synonymous 9/25 - 1
10-34671556-C-G c.1311G>C p.S437= Synonymous 9/25 - 1
10-34671556-CG-AA c.1310_1311delinsTT p.S437F Missense 9/25 - 1
10-34671556-C-T c.1311G>A p.S437= Synonymous 9/25 - 3
10-34671557-G-A c.1310C>T p.S437L Missense 9/25 - 1
10-34671557-GA-CT c.1309_1310delinsAG p.S437R Missense 9/25 - 1
10-34671560-G-A c.1307C>T p.A436V Missense 9/25 - 1
10-34671563-G-A c.1304C>T p.P435L Missense 9/25 - 1
10-34671564-G-A c.1303C>T p.P435S Missense 9/25 - 1
10-34671564-G-C c.1303C>G p.P435A Missense 9/25 - 3
10-34671566-G-A c.1301C>T p.A434V Missense 9/25 - 1
10-34671569-G-A c.1298C>T p.S433F Missense 9/25 - 2
10-34671569-G-T c.1298C>A p.S433Y Missense 9/25 - 1
10-34671573-G-A c.1294C>T p.P432S Missense 9/25 - 2
10-34671573-G-T c.1294C>A p.P432T Missense 9/25 - 1
10-34671576-G-C c.1291C>G p.P431A Missense 9/25 - 1
10-34671582-C-T c.1285G>A p.G429R Missense 9/25 - 1
10-34671584-G-A c.1283C>T p.S428L Missense 9/25 - 5
10-34671590-T-C c.1277A>G p.H426R Missense 9/25 - 1
10-34671591-G-T c.1276C>A p.H426N Missense 9/25 - 1
10-34671594-C-T c.1273G>A p.A425T Missense 9/25 - 3
10-34671595-G-A c.1272C>T p.S424= Synonymous 9/25 - 1
10-34671599-T-C c.1268A>G p.H423R Missense 9/25 - 1
10-34671602-G-A c.1265C>T p.P422L Missense 9/25 - 1
10-34671610-TG-AA c.1256_1257delinsTT p.S419F Missense 9/25 - 2
10-34671611-G-C c.1256C>G p.S419* Nonsense 9/25 - 2
10-34671611-G-T c.1256C>A p.S419* Nonsense 9/25 - 1
10-34671615-G-A c.1252C>T p.H418Y Missense 9/25 - 2
10-34671617-G-C c.1250C>G p.S417C Missense 9/25 - 1
10-34671618-A-C c.1249T>G p.S417A Missense 9/25 - 1
10-34671623-A-G c.1244T>C p.I415T Missense 9/25 - 3
10-34671624-T-G c.1243A>C p.I415L Missense 9/25 - 2
10-34671625-C-CT c.1241dup p.I415Dfs*10 Frameshift 9/25 - 1
10-34671628-C-A c.1239G>T p.E413D Missense 9/25 - 1
10-34671628-C-G c.1239G>C p.E413D Missense 9/25 - 1
10-34671628-C-T c.1239G>A p.E413= Synonymous 9/25 - 1
10-34671631-A-AT c.1235_1236insA p.E413* Nonsense 9/25 - 1
10-34671635-G-A c.1232C>T p.P411L Missense 9/25 - 3
10-34671636-G-A c.1231C>T p.P411S Missense 9/25 - 1
10-34671639-G-A c.1228C>T p.H410Y Missense 9/25 - 1
10-34671646-TCG-ACA c.1219_1221delinsTGT p.R407C Missense 9/25 - 1
10-34671647-C-T c.1220G>A p.R407Q Missense 9/25 - 1
10-34671653-G-A c.1214C>T p.A405V Missense 9/25 - 1
10-34671654-C-T c.1213G>A p.A405T Missense 9/25 - 1
10-34671657-T-A c.1210A>T p.R404* Nonsense 9/25 - 1
10-34671658-C-A c.1209G>T p.Q403H Missense 9/25 - 1
10-34671658-C-T c.1209G>A p.Q403= Synonymous 9/25 - 2
10-34671662-A-G c.1205T>C p.V402A Missense 9/25 - 1
10-34671663-C-A c.1204G>T p.V402L Missense 9/25 - 1
10-34671663-C-T c.1204G>A p.V402M Missense 9/25 - 1
10-34671665-G-A c.1202C>T p.T401M Missense 9/25 - 2
10-34671665-G-C c.1202C>G p.T401R Missense 9/25 - 2
10-34671665-G-T c.1202C>A p.T401K Missense 9/25 - 1
10-34671674-C-T c.1193G>A p.G398E Missense 9/25 - 1
10-34671675-C-T c.1192G>A p.G398R Missense 9/25 - 1
10-34671682-G-A c.1185C>T p.N395= Synonymous 9/25 - 1
10-34671683-T-G c.1184A>C p.N395T Missense 9/25 - 1
10-34671688-A-G c.1179T>C p.S393= Synonymous 9/25 - 2
10-34671691-CCT-ACA c.1174_1176delinsTGT p.R392C Missense 9/25 - 1
10-34671691-C-T c.1176G>A p.R392= Synonymous 9/25 - 1
10-34671693-T-G c.1174A>C p.R392= Synonymous 9/25 - 1
10-34671692-C-T c.1175G>A p.R392K Missense 9/25 - 2
10-34671702-T-C c.1165A>G p.I389V Missense 9/25 - 1
10-34671708-G-A c.1159C>T p.Q387* Nonsense 9/25 - 1
10-34671711-T-G c.1156A>C p.S386R Missense 9/25 - 1
10-34671710-C-A c.1157G>T p.S386I Missense 9/25 - 2
10-34671712-G-C c.1155C>G p.D385E Missense 9/25 - 1
10-34671712-G-T c.1155C>A p.D385E Missense 9/25 - 1
10-34671714-C-A c.1153G>T p.D385Y Missense 9/25 - 1
10-34671714-C-T c.1153G>A p.D385N Missense 9/25 - 1
10-34671716-G-T c.1151C>A p.P384H Missense 9/25 - 1
10-34671717-G-A c.1150C>T p.P384S Missense 9/25 - 1
10-34671718-G-A c.1149C>T p.S383= Synonymous 9/25 - 1
10-34671719-C-T c.1148G>A p.S383N Missense 9/25 - 1
10-34671720-T-C c.1147A>G p.S383G Missense 9/25 - 1
10-34671721-A-C c.1146T>G p.F382L Missense 9/25 - 1
10-34671721-A-T c.1146T>A p.F382L Missense 9/25 - 1
10-34671723-A-G c.1144T>C p.F382L Missense 9/25 - 1
10-34671725-C-T c.1142G>A p.R381H Missense 9/25 - 1
10-34671726-G-T c.1141C>A p.R381S Missense 9/25 - 1
10-34671730-T-A c.1137A>T p.S379= Synonymous 9/25 - 1
10-34671730-T-C c.1137A>G p.S379= Synonymous 9/25 - 1
10-34671730-T-G c.1137A>C p.S379= Synonymous 9/25 - 1
10-34671735-A-G c.1132T>C p.Y378H Missense 9/25 - 1
10-34671736-G-A c.1131C>T p.Y377= Synonymous 9/25 - 1
10-34671738-A-G c.1129T>C p.Y377H Missense 9/25 - 1
10-34671744-T-A c.1123A>T p.N375Y Missense 9/25 - 1
10-34671744-T-C c.1123A>G p.N375D Missense 9/25 - 1
10-34671746-T-C c.1121A>G p.K374R Missense 9/25 - 3
10-34671749-T-C c.1118A>G p.E373G Missense 9/25 - 1
10-34671757-G-A c.1110C>T p.S370= Synonymous 9/25 - 1
10-34671757-G-T c.1110C>A p.S370= Synonymous 9/25 - 1
10-34671758-G-A c.1109C>T p.S370F Missense 9/25 - 1
10-34671760-T-C c.1107A>G p.L369= Synonymous 9/25 - 2
10-34671762-G-C c.1105C>G p.L369V Missense 9/25 - 2
10-34671766-T-A c.1101A>T p.E367D Missense 9/25 - 1
10-34671766-T-G c.1101A>C p.E367D Missense 9/25 - 1
10-34671768-C-T c.1099G>A p.E367K Missense 9/25 - 1
10-34671771-A-G c.1096T>C p.Y366H Missense 9/25 - 1
10-34671772-C-T c.1095G>A p.Q365= Synonymous 9/25 - 1
10-34671774-G-A c.1093C>T p.Q365* Nonsense 9/25 - 1
10-34671777-C-T c.1090G>A p.E364K Missense 9/25 - 1
10-34671792-G-A c.1075C>T p.P359S Missense 9/25 - 2
10-34671798-CATGGAACCAA-C c.1059_1068del p.I353Mfs*39 Frameshift 9/25 - 1
10-34671805-C-T c.1062G>A p.W354* Nonsense 9/25 - 1
10-34671810-T-A c.1057A>T p.I353F Missense 9/25 - 1
10-34671810-T-C c.1057A>G p.I353V Missense 9/25 - 1
10-34671812-A-G c.1055T>C p.I352T Missense 9/25 - 1
10-34671813-T-C c.1054A>G p.I352V Missense 9/25 - 4
10-34671814-G-A c.1053C>T p.P351= Synonymous 9/25 - 3
10-34671814-G-C c.1053C>G p.P351= Synonymous 9/25 - 1
10-34671814-G-T c.1053C>A p.P351= Synonymous 9/25 - 1
10-34671815-G-T c.1052C>A p.P351H Missense 9/25 - 1
10-34671819-T-C c.1048A>G p.T350A Missense 9/25 - 1
10-34671820-AC-TT c.1046_1047delinsAA p.R349Q Missense 9/25 - 1
10-34671821-C-A c.1046G>T p.R349L Missense 9/25 - 1
10-34671821-C-T c.1046G>A p.R349H Missense 9/25 - 3
10-34671822-G-A c.1045C>T p.R349C Missense 9/25 - 3
10-34671823-C-A c.1044G>T p.M348I Missense 9/25 - 1
10-34671823-C-G c.1044G>C p.M348I Missense 9/25 - 1
10-34671823-C-T c.1044G>A p.M348I Missense 9/25 - 1
10-34671826-G-A c.1041C>T p.A347= Synonymous 9/25 - 1
10-34671826-G-C c.1041C>G p.A347= Synonymous 9/25 - 1
10-34671826-G-T c.1041C>A p.A347= Synonymous 9/25 - 1
10-34671827-G-T c.1040C>A p.A347D Missense 9/25 - 1
10-34671833-C-T c.1034G>A p.R345H Missense 9/25 - 1
10-34671834-G-A c.1033C>T p.R345C Missense 9/25 - 4
10-34671835-A-T c.1032T>A p.F344L Missense 9/25 - 1
10-34671838-C-T c.1029G>A p.M343I Missense 9/25 - 2
10-34671843-G-A c.1024C>T p.H342Y Missense 9/25 - 1
10-34671845-T-G c.1022A>C p.Q341P Missense 9/25 - 1
10-34671849-C-T c.1018G>A p.A340T Missense 9/25 - 3
10-34671890-T-C c.1017-40A>G - IntronicSNV - 8/24 1
10-34672851-G-C c.1016+206C>G - IntronicSNV - 8/24 1
10-34673055-A-G c.1016+2T>C - IntronicSNV - 8/24 2
10-34673056-C-T c.1016+1G>A - IntronicSNV - 8/24 1
10-34673058-G-A c.1015C>T p.Q339* Nonsense 8/25 - 2
10-34673060-T-TC c.1012dup p.E338Gfs*26 Frameshift 8/25 - 1
10-34673061-C-A c.1012G>T p.E338* Nonsense 8/25 - 1
10-34673061-C-G c.1012G>C p.E338Q Missense 8/25 - 1
10-34673066-C-T c.1007G>A p.R336K Missense 8/25 - 2
10-34673068-T-C c.1005A>G p.R335= Synonymous 8/25 - 1
10-34673070-T-G c.1003A>C p.R335= Synonymous 8/25 - 1
10-34673069-C-T c.1004G>A p.R335K Missense 8/25 - 1
10-34673075-C-T c.998G>A p.R333Q Missense 8/25 - 6
10-34673076-G-A c.997C>T p.R333* Nonsense 8/25 - 3
10-34673080-G-A c.993C>T p.D331= Synonymous 8/25 - 1
10-34673082-C-T c.991G>A p.D331N Missense 8/25 - 2
10-34673083-G-A c.990C>T p.G330= Synonymous 8/25 - 1
10-34673088-C-A c.985G>T p.D329Y Missense 8/25 - 1
10-34673095-CC-GA c.977_978delinsTC p.R326I Missense 8/25 - 1
10-34673096-CT-TG c.976_977delinsCA p.R326Q Missense 8/25 - 1
10-34673104-G-A c.969C>T p.C323= Synonymous 8/25 - 2
10-34673104-G-T c.969C>A p.C323* Nonsense 8/25 - 1
10-34673105-C-T c.968G>A p.C323Y Missense 8/25 - 1
10-34673109-C-T c.964G>A p.D322N Missense 8/25 - 1
10-34673110-A-G c.963T>C p.N321= Synonymous 8/25 - 3
10-34673117-AC-A c.956del p.R319Lfs*76 Frameshift 8/25 - 1
10-34673117-C-A c.956G>T p.R319L Missense 8/25 - 1
10-34673118-G-A c.955C>T p.R319C Missense 8/25 - 8
10-34673119-A-C c.954T>G p.F318L Missense 8/25 - 1
10-34673118-GA-G c.954del p.R319Vfs*76 Frameshift 8/25 - 1
10-34673124-G-T c.949C>A p.L317I Missense 8/25 - 1
10-34673127-T-C c.946A>G p.N316D Missense 8/25 - 1
10-34673127-T-G c.946A>C p.N316H Missense 8/25 - 4
10-34673130-C-T c.943G>A p.E315K Missense 8/25 - 1
10-34673131-A-G c.942T>C p.H314= Synonymous 8/25 - 3
10-34673136-C-G c.937G>C p.E313Q Missense 8/25 - 1
10-34673139-C-T c.934G>A p.A312T Missense 8/25 - 1
10-34673141-T-G c.932A>C p.K311T Missense 8/25 - 1
10-34673142-T-A c.931A>T p.K311* Nonsense 8/25 - 1
10-34673142-T-C c.931A>G p.K311E Missense 8/25 - 1
10-34673146-A-G c.927T>C p.G309= Synonymous 8/25 - 1
10-34673148-C-A c.925G>T p.G309C Missense 8/25 - 1
10-34673148-C-G c.925G>C p.G309R Missense 8/25 - 1
10-34673151-T-TA c.921_922insT p.K308* Nonsense 8/25 - 1
10-34673152-C-A c.921G>T p.E307D Missense 8/25 - 1
10-34673152-C-G c.921G>C p.E307D Missense 8/25 - 1
10-34673152-C-T c.921G>A p.E307= Synonymous 8/25 - 1
10-34673153-T-C c.920A>G p.E307G Missense 8/25 - 1
10-34673159-CG-TT c.913_914delinsAA p.R305K Missense 8/25 - 1
10-34673160-G-A c.913C>T p.R305* Nonsense 8/25 - 1
10-34673170-T-C c.903A>G p.L301= Synonymous 8/25 - 1
10-34673174-CC-TT c.898_899delinsAA p.G300K Missense 8/25 - 1
10-34673175-C-G c.898G>C p.G300R Missense 8/25 - 2
10-34673175-C-T c.898G>A p.G300R Missense 8/25 - 2
10-34673178-G-T c.895C>A p.L299M Missense 8/25 - 1
10-34673182-T-A c.891A>T p.R297S Missense 8/25 - 1
10-34680277-G-A c.891-7095C>T - IntronicSNV - 7/24 1
10-34680292-G-A c.891-7110C>T - IntronicSNV - 7/24 1
10-34688252-C-T c.890+6G>A - IntronicSNV - 7/24 1
10-34688257-C-T c.890+1G>A - IntronicSNV - 7/24 1
10-34688262-C-T c.886G>A p.G296S Missense 7/25 - 1
10-34688263-G-A c.885C>T p.G295= Synonymous 7/25 - 1
10-34688266-T-C c.882A>G p.R294= Synonymous 7/25 - 2
10-34688266-TCG-ACA c.880_882delinsTGT p.R294C Missense 7/25 - 1
10-34688266-TCG-CCA c.880_882delinsTGG p.R294W Missense 7/25 - 1
10-34688267-C-T c.881G>A p.R294Q Missense 7/25 - 2
10-34688268-G-A c.880C>T p.R294* Nonsense 7/25 - 5
10-34688273-C-A c.875G>T p.S292I Missense 7/25 - 1
10-34688273-C-G c.875G>C p.S292T Missense 7/25 - 5
10-34688280-G-T c.868C>A p.P290T Missense 7/25 - 1
10-34688284-TAC-CAT c.862_864delinsATG p.V288M Missense 7/25 - 1
10-34688286-C-T c.862G>A p.V288I Missense 7/25 - 1
10-34688287-G-A c.861C>T p.H287= Synonymous 7/25 - 23
10-34688290-G-A c.858C>T p.I286= Synonymous 7/25 - 3
10-34688290-G-T c.858C>A p.I286= Synonymous 7/25 - 2
10-34688294-C-T c.854G>A p.G285E Missense 7/25 - 7
10-34688305-T-C c.843A>G p.G281= Synonymous 7/25 - 1
10-34688306-C-T c.842G>A p.G281E Missense 7/25 - 1
10-34688307-C-A c.841G>T p.G281* Nonsense 7/25 - 2
10-34688309-T-C c.839A>G p.D280G Missense 7/25 - 1
10-34688310-C-T c.838G>A p.D280N Missense 7/25 - 3
10-34688316-G-A c.832C>T p.P278S Missense 7/25 - 2
10-34688317-G-A c.831C>T p.V277= Synonymous 7/25 - 1
10-34688319-C-A c.829G>T p.V277F Missense 7/25 - 1
10-34688319-C-T c.829G>A p.V277I Missense 7/25 - 1
10-34688322-C-A c.826G>T p.E276* Nonsense 7/25 - 1
10-34688322-C-G c.826G>C p.E276Q Missense 7/25 - 2
10-34688325-C-A c.823G>T p.V275L Missense 7/25 - 1
10-34688325-C-G c.823G>C p.V275L Missense 7/25 - 1
10-34688326-G-A c.822C>T p.L274= Synonymous 7/25 - 2
10-34688326-G-C c.822C>G p.L274= Synonymous 7/25 - 1
10-34688326-G-T c.822C>A p.L274= Synonymous 7/25 - 1
10-34688331-T-A c.817A>T p.K273* Nonsense 7/25 - 2
10-34688334-C-A c.814G>T p.V272L Missense 7/25 - 1
10-34688334-C-G c.814G>C p.V272L Missense 7/25 - 1
10-34688340-C-G c.808G>C p.D270H Missense 7/25 - 1
10-34688446-C-T c.807-105G>A - IntronicSNV - 6/24 1
10-34690752-A-G c.806+2T>C - IntronicSNV - 6/24 1
10-34690755-C-T c.805G>A p.D269N Missense 6/25 - 1
10-34690758-G-C c.802C>G p.L268V Missense 6/25 - 2
10-34690760-G-A c.800C>T p.S267F Missense 6/25 - 1
10-34690760-G-T c.800C>A p.S267Y Missense 6/25 - 1
10-34690762-A-G c.798T>C p.F266= Synonymous 6/25 - 1
10-34690762-A-T c.798T>A p.F266L Missense 6/25 - 1
10-34690765-G-C c.795C>G p.N265K Missense 6/25 - 1
10-34690765-G-T c.795C>A p.N265K Missense 6/25 - 1
10-34690769-G-T c.791C>A p.P264H Missense 6/25 - 1
10-34690773-T-C c.787A>G p.I263V Missense 6/25 - 2
10-34690779-C-T c.781G>A p.E261K Missense 6/25 - 1
10-34690781-AA-GC c.778_779delinsGC p.L260A Missense 6/25 - 1
10-34690783-A-C c.777T>G p.G259= Synonymous 6/25 - 1
10-34690783-A-G c.777T>C p.G259= Synonymous 6/25 - 1
10-34690783-A-T c.777T>A p.G259= Synonymous 6/25 - 1
10-34690784-C-T c.776G>A p.G259D Missense 6/25 - 1
10-34690787-G-A c.773C>T p.T258M Missense 6/25 - 2
10-34690791-C-A c.769G>T p.D257Y Missense 6/25 - 1
10-34690791-C-T c.769G>A p.D257N Missense 6/25 - 1
10-34690796-T-C c.764A>G p.H255R Missense 6/25 - 1
10-34690798-T-C c.762A>G p.G254= Synonymous 6/25 - 1
10-34690799-C-T c.761G>A p.G254E Missense 6/25 - 1
10-34690805-G-C c.755C>G p.P252R Missense 6/25 - 1
10-34690812-C-A c.748G>T p.V250F Missense 6/25 - 1
10-34690812-C-T c.748G>A p.V250I Missense 6/25 - 2
10-34690813-ACG-TCA c.745_747delinsTGA p.R249* Nonsense 6/25 - 1
10-34690814-C-T c.746G>A p.R249H Missense 6/25 - 1
10-34690815-G-A c.745C>T p.R249C Missense 6/25 - 4
10-34690817-C-G c.743G>C p.S248T Missense 6/25 - 2
10-34690817-CT-AG c.742_743inv p.S248L Missense 6/25 - 1
10-34690830-C-T c.730G>A p.E244K Missense 6/25 - 3
10-34690842-C-G c.718G>C p.E240Q Missense 6/25 - 1
10-34690842-C-T c.718G>A p.E240K Missense 6/25 - 3
10-34690843-A-C c.717T>G p.D239E Missense 6/25 - 1
10-34690843-A-G c.717T>C p.D239= Synonymous 6/25 - 1
10-34690843-A-T c.717T>A p.D239E Missense 6/25 - 1
10-34690844-T-C c.716A>G p.D239G Missense 6/25 - 2
10-34692950-G-A c.715-2105C>T - IntronicSNV - 5/24 1
10-34695562-A-C c.715-4717T>G - IntronicSNV - 5/24 1
10-34702108-C-T c.715-11263G>A - IntronicSNV - 5/24 1
10-34704074-C-T c.715-13229G>A - IntronicSNV - 5/24 1
10-34705559-A-G c.715-14714T>C - IntronicSNV - 5/24 2
10-34706027-A-C c.715-15182T>G - IntronicSNV - 5/24 1
10-34706027-A-G c.715-15182T>C - IntronicSNV - 5/24 1
10-34716545-C-G c.714+22700G>C - IntronicSNV - 5/24 1
10-34720820-A-C c.714+18425T>G - IntronicSNV - 5/24 1
10-34736013-T-C c.714+3232A>G - IntronicSNV - 5/24 1
10-34736226-G-T c.714+3019C>A - IntronicSNV - 5/24 1
10-34739219-G-A c.714+26C>T - IntronicSNV - 5/24 1
10-34739244-C-A c.714+1G>T - IntronicSNV - 5/24 1
10-34739247-G-C c.712C>G p.Q238E Missense 5/25 - 1
10-34739255-T-C c.704A>G p.K235R Missense 5/25 - 1
10-34739260-C-A c.699G>T p.L233= Synonymous 5/25 - 2
10-34739260-C-G c.699G>C p.L233= Synonymous 5/25 - 3
10-34739260-C-T c.699G>A p.L233= Synonymous 5/25 - 2
10-34739262-G-A c.697C>T p.L233= Synonymous 5/25 - 3
10-34739270-C-G c.689G>C p.G230A Missense 5/25 - 1
10-34739271-C-A c.688G>T p.G230C Missense 5/25 - 1
10-34739271-C-G c.688G>C p.G230R Missense 5/25 - 2
10-34739271-C-T c.688G>A p.G230S Missense 5/25 - 1
10-34739277-T-C c.682A>G p.M228V Missense 5/25 - 1
10-34739280-G-A c.679C>T p.P227S Missense 5/25 - 1
10-34739283-G-A c.676C>T p.H226Y Missense 5/25 - 1
10-34739291-C-A c.668G>T p.S223I Missense 5/25 - 1
10-34739293-C-A c.666G>T p.L222= Synonymous 5/25 - 1
10-34739293-C-G c.666G>C p.L222= Synonymous 5/25 - 1
10-34739293-C-T c.666G>A p.L222= Synonymous 5/25 - 1
10-34739295-G-A c.664C>T p.L222= Synonymous 5/25 - 1
10-34739296-A-C c.663T>G p.S221= Synonymous 5/25 - 1
10-34739296-A-G c.663T>C p.S221= Synonymous 5/25 - 1
10-34739296-A-T c.663T>A p.S221= Synonymous 5/25 - 1
10-34739297-G-A c.662C>T p.S221F Missense 5/25 - 3
10-34739301-A-T c.658T>A p.S220T Missense 5/25 - 1
10-34739304-G-A c.655C>T p.R219C Missense 5/25 - 2
10-34739308-A-C c.651T>G p.N217K Missense 5/25 - 1
10-34739308-A-T c.651T>A p.N217K Missense 5/25 - 1
10-34739309-T-C c.650A>G p.N217S Missense 5/25 - 1
10-34739315-C-T c.644G>A p.R215K Missense 5/25 - 1
10-34739319-G-A c.640C>T p.Q214* Nonsense 5/25 - 1
10-34739333-C-G c.626G>C p.W209S Missense 5/25 - 1
10-34739336-T-C c.623A>G p.N208S Missense 5/25 - 1
10-34739339-C-T c.620G>A p.S207N Missense 5/25 - 1
10-34739340-T-A c.619A>T p.S207C Missense 5/25 - 1
10-34739348-C-A c.611G>T p.R204L Missense 5/25 - 2
10-34739347-C-A c.612G>T p.R204= Synonymous 5/25 - 1
10-34739347-C-G c.612G>C p.R204= Synonymous 5/25 - 1
10-34739347-C-T c.612G>A p.R204= Synonymous 5/25 - 1
10-34739349-G-A c.610C>T p.R204W Missense 5/25 - 1
10-34739349-G-T c.610C>A p.R204= Synonymous 5/25 - 1
10-34739351-G-A c.608C>T p.P203L Missense 5/25 - 1
10-34739352-G-A c.607C>T p.P203S Missense 5/25 - 1
10-34739356-G-T c.603C>A p.S201R Missense 5/25 - 1
10-34739360-C-T c.599G>A p.R200K Missense 5/25 - 1
10-34739360-CT-TG c.598_599delinsCA p.R200Q Missense 5/25 - 1
10-34739363-T-C c.596A>G p.Y199C Missense 5/25 - 2
10-34739379-A-G c.583-3T>C - IntronicSNV - 4/24 1
10-34742699-C-T c.583-3323G>A - IntronicSNV - 4/24 1
10-34750596-C-T c.582+8417G>A - IntronicSNV - 4/24 1
10-34750596-TC-T c.582+8417del - IntronicDeletion - 4/24 1
10-34752447-T-C c.582+6566A>G - IntronicSNV - 4/24 1
10-34752788-T-A c.582+6225A>T - IntronicSNV - 4/24 1
10-34752788-T-C c.582+6225A>G - IntronicSNV - 4/24 1
10-34755348-A-G c.582+3665T>C - IntronicSNV - 4/24 1
10-34759010-T-A c.582+3A>T - IntronicSNV - 4/24 1
10-34759011-A-G c.582+2T>C - IntronicSNV - 4/24 1
10-34759021-C-T c.574G>A p.D192N Missense 4/25 - 1
10-34759022-G-C c.573C>G p.C191W Missense 4/25 - 1
10-34759023-C-T c.572G>A p.C191Y Missense 4/25 - 1
10-34759025-G-A c.570C>T p.T190= Synonymous 4/25 - 1
10-34759025-G-C c.570C>G p.T190= Synonymous 4/25 - 1
10-34759025-G-T c.570C>A p.T190= Synonymous 4/25 - 1
10-34759027-T-C c.568A>G p.T190A Missense 4/25 - 1
10-34759032-G-A c.563C>T p.P188L Missense 4/25 - 1
10-34759033-G-A c.562C>T p.P188S Missense 4/25 - 1
10-34759034-A-G c.561T>C p.S187= Synonymous 4/25 - 1
10-34759035-CT-GC c.559_560delinsGC p.S187A Missense 4/25 - 2
10-34759035-CT-TC c.559_560delinsGA p.S187D Missense 4/25 - 1
10-34759036-T-C c.559A>G p.S187G Missense 4/25 - 1
10-34759040-A-C c.555T>G p.A185= Synonymous 4/25 - 1
10-34759040-A-G c.555T>C p.A185= Synonymous 4/25 - 1
10-34759040-A-T c.555T>A p.A185= Synonymous 4/25 - 1
10-34759043-AG-CT c.551_552inv p.T184K Missense 4/25 - 1
10-34759044-GT-TC c.550_551delinsGA p.T184D Missense 4/25 - 3
10-34759049-C-A c.546G>T p.Q182H Missense 4/25 - 1
10-34759051-G-C c.544C>G p.Q182E Missense 4/25 - 2
10-34759052-C-A c.543G>T p.K181N Missense 4/25 - 1
10-34759052-C-G c.543G>C p.K181N Missense 4/25 - 1
10-34759057-G-A c.538C>T p.L180F Missense 4/25 - 2
10-34759059-A-G c.536T>C p.F179S Missense 4/25 - 2
10-34759062-C-G c.533G>C p.G178A Missense 4/25 - 1
10-34759062-C-T c.533G>A p.G178D Missense 4/25 - 1
10-34759066-CTGT-C c.526_528del p.T176del InFrameDeletion 4/25 - 1
10-34759073-T-A c.522A>T p.S174= Synonymous 4/25 - 1
10-34759073-T-C c.522A>G p.S174= Synonymous 4/25 - 1
10-34759073-T-G c.522A>C p.S174= Synonymous 4/25 - 1
10-34759074-GA-CC c.520_521delinsGG p.S174G Missense 4/25 - 1
10-34759074-G-C c.521C>G p.S174* Nonsense 4/25 - 3
10-34759074-G-T c.521C>A p.S174* Nonsense 4/25 - 1
10-34759076-C-A c.519G>T p.W173C Missense 4/25 - 1
10-34759080-C-T c.515G>A p.R172H Missense 4/25 - 1
10-34759081-G-A c.514C>T p.R172C Missense 4/25 - 3
10-34759083-G-A c.512C>T p.T171I Missense 4/25 - 1
10-34759085-G-A c.510C>T p.P170= Synonymous 4/25 - 2
10-34759084-TGG-T c.509_510del p.P170Hfs*19 Frameshift 4/25 - 1
10-34759086-G-A c.509C>T p.P170L Missense 4/25 - 1
10-34759087-G-A c.508C>T p.P170S Missense 4/25 - 5
10-34759087-G-T c.508C>A p.P170T Missense 4/25 - 1
10-34759095-CT-AG c.499_500inv p.R167L Missense 4/25 - 1
10-34759096-T-C c.499A>G p.R167G Missense 4/25 - 1
10-34759098-G-C c.497C>G p.S166* Nonsense 4/25 - 2
10-34759098-G-T c.497C>A p.S166* Nonsense 4/25 - 2
10-34759101-G-A c.494C>T p.P165L Missense 4/25 - 1
10-34759101-G-C c.494C>G p.P165R Missense 4/25 - 1
10-34759102-G-C c.493C>G p.P165A Missense 4/25 - 1
10-34759105-C-A c.490G>T p.E164* Nonsense 4/25 - 1
10-34759112-G-A c.483C>T p.S161= Synonymous 4/25 - 1
10-34759113-G-A c.482C>T p.S161F Missense 4/25 - 8
10-34759115-A-T c.480T>A p.F160L Missense 4/25 - 1
10-34759118-A-C c.477T>G p.N159K Missense 4/25 - 1
10-34759118-A-T c.477T>A p.N159K Missense 4/25 - 1
10-34759119-T-C c.476A>G p.N159S Missense 4/25 - 1
10-34759126-C-T c.469G>A p.D157N Missense 4/25 - 1
10-34759140-G-A c.455C>T p.S152F Missense 4/25 - 1
10-34759143-A-T c.452T>A p.L151H Missense 4/25 - 1
10-34759146-C-T c.449G>A p.G150D Missense 4/25 - 1
10-34759151-T-C c.444A>G p.L148= Synonymous 4/25 - 1
10-34759156-C-A c.439G>T p.A147S Missense 4/25 - 1
10-34759158-G-A c.437C>T p.P146L Missense 4/25 - 2
10-34759162-C-T c.433G>A p.D145N Missense 4/25 - 1
10-34759163-ACT-TCA c.430_432delinsTGA p.S144* Nonsense 4/25 - 1
10-34759163-A-G c.432T>C p.S144= Synonymous 4/25 - 1
10-34759164-CT-GC c.430_431delinsGC p.S144A Missense 4/25 - 1
10-34759164-CT-TC c.430_431delinsGA p.S144D Missense 4/25 - 1
10-34759165-T-C c.430A>G p.S144G Missense 4/25 - 1
10-34759169-G-A c.426C>T p.R142= Synonymous 4/25 - 1
10-34759169-G-C c.426C>G p.R142= Synonymous 4/25 - 1
10-34759169-GCG-TCA c.424_426delinsTGA p.R142* Nonsense 4/25 - 1
10-34759169-GC-TT c.425_426delinsAA p.R142Q Missense 4/25 - 1
10-34759169-G-T c.426C>A p.R142= Synonymous 4/25 - 1
10-34759170-C-T c.425G>A p.R142H Missense 4/25 - 2
10-34759171-G-A c.424C>T p.R142C Missense 4/25 - 1
10-34759171-G-T c.424C>A p.R142S Missense 4/25 - 1
10-34759174-G-A c.421C>T p.R141* Nonsense 4/25 - 1
10-34759186-G-A c.409C>T p.P137S Missense 4/25 - 2
10-34759188-A-C c.407T>G p.M136R Missense 4/25 - 1
10-34759190-A-C c.405T>G p.N135K Missense 4/25 - 1
10-34779131-C-T c.404-19940G>A - IntronicSNV - 3/24 1
10-34780836-A-G c.404-21645T>C - IntronicSNV - 3/24 1
10-34782752-C-A c.403+23155G>T - IntronicSNV - 3/24 1
10-34782752-C-T c.403+23155G>A - IntronicSNV - 3/24 1
10-34784763-G-A c.403+21144C>T - IntronicSNV - 3/24 1
10-34786246-C-A c.403+19661G>T - IntronicSNV - 3/24 1
10-34786246-C-T c.403+19661G>A - IntronicSNV - 3/24 1
10-34799579-C-A c.403+6328G>T - IntronicSNV - 3/24 1
10-34805787-AACTTAATTTTTGAATAAAACAGATAATTAATTCCATTTACAGGGTCATGGATGAATAAC-A c.403+61_403+119del - SpliceDonorDeletion - 3/24 1
10-34805907-T-A c.403A>T p.N135Y Missense 3/25 - 1
10-34805908-TG-GT c.401_402delinsAC p.A134D Missense 3/25 - 2
10-34805909-G-A c.401C>T p.A134V Missense 3/25 - 1
10-34805909-G-C c.401C>G p.A134G Missense 3/25 - 1
10-34805910-C-A c.400G>T p.A134S Missense 3/25 - 1
10-34805912-C-G c.398G>C p.R133P Missense 3/25 - 2
10-34805912-C-T c.398G>A p.R133Q Missense 3/25 - 1
10-34805913-G-A c.397C>T p.R133* Nonsense 3/25 - 4
10-34805925-G-A c.385C>T p.P129S Missense 3/25 - 1
10-34805927-G-T c.383C>A p.T128K Missense 3/25 - 1
10-34805936-A-G c.374T>C p.I125T Missense 3/25 - 1
10-34805938-T-A c.372A>T p.E124D Missense 3/25 - 1
10-34805938-T-G c.372A>C p.E124D Missense 3/25 - 1
10-34805943-T-C c.367A>G p.S123G Missense 3/25 - 1
10-34805945-G-A c.365C>T p.T122I Missense 3/25 - 2
10-34805946-T-C c.364A>G p.T122A Missense 3/25 - 1
10-34805949-C-T c.361G>A p.A121T Missense 3/25 - 1
10-34805958-G-A c.352C>T p.P118S Missense 3/25 - 1
10-34805961-G-A c.349C>T p.Q117* Nonsense 3/25 - 8
10-34805961-G-T c.349C>A p.Q117K Missense 3/25 - 1
10-34805969-G-A c.341C>T p.S114L Missense 3/25 - 2
10-34805969-GA-CC c.340_341delinsGG p.S114G Missense 3/25 - 1
10-34805969-G-C c.341C>G p.S114* Nonsense 3/25 - 2
10-34805969-G-T c.341C>A p.S114* Nonsense 3/25 - 1
10-34805970-A-C c.340T>G p.S114A Missense 3/25 - 1
10-34805971-G-A c.339C>T p.V113= Synonymous 3/25 - 2
10-34805971-G-C c.339C>G p.V113= Synonymous 3/25 - 2
10-34805978-T-C c.332A>G p.N111S Missense 3/25 - 1
10-34805980-G-A c.330C>T p.T110= Synonymous 3/25 - 1
10-34805981-G-T c.329C>A p.T110N Missense 3/25 - 1
10-34805982-T-C c.328A>G p.T110A Missense 3/25 - 1
10-34805988-G-A c.322C>T p.L108F Missense 3/25 - 3
10-34805989-C-A c.321G>T p.E107D Missense 3/25 - 5
10-34805989-C-G c.321G>C p.E107D Missense 3/25 - 5
10-34805989-C-T c.321G>A p.E107= Synonymous 3/25 - 1
10-34805993-C-A c.317G>T p.S106I Missense 3/25 - 1
10-34806001-T-C c.309A>G p.I103M Missense 3/25 - 1
10-34806004-C-T c.306G>A p.E102= Synonymous 3/25 - 1
10-34806010-G-C c.300C>G p.S100R Missense 3/25 - 2
10-34806011-C-T c.299G>A p.S100N Missense 3/25 - 1
10-34806011-CT-AA c.298_299delinsTT p.S100F Missense 3/25 - 1
10-34806011-CT-GG c.298_299delinsCC p.S100P Missense 3/25 - 2
10-34806014-T-C c.296A>G p.Q99R Missense 3/25 - 1
10-34806017-G-A c.293C>T p.T98I Missense 3/25 - 1
10-34806017-GT-CC c.292_293delinsGG p.T98G Missense 3/25 - 7
10-34806020-C-A c.290G>T p.G97V Missense 3/25 - 1
10-34806020-C-T c.290G>A p.G97D Missense 3/25 - 1
10-34806022-C-A c.288G>T p.T96= Synonymous 3/25 - 1
10-34806023-G-A c.287C>T p.T96M Missense 3/25 - 1
10-34806026-G-C c.284C>G p.S95C Missense 3/25 - 1
10-34806028-A-G c.282T>C p.S94= Synonymous 3/25 - 2
10-34806029-CT-GC c.280_281delinsGC p.S94A Missense 3/25 - 1
10-34806029-CT-TC c.280_281delinsGA p.S94D Missense 3/25 - 1
10-34806035-ACT-A c.274_275del p.S92Cfs*14 Frameshift 3/25 - 1
10-34806038-G-A c.272C>T p.T91I Missense 3/25 - 1
10-34806039-T-TG c.270dup p.T91Hfs*16 Frameshift 3/25 - 1
10-34806041-C-A c.269G>T p.G90V Missense 3/25 - 1
10-34806041-C-T c.269G>A p.G90D Missense 3/25 - 3
10-34806042-C-A c.268G>T p.G90C Missense 3/25 - 2
10-34806042-C-G c.268G>C p.G90R Missense 3/25 - 1
10-34806047-C-A c.263G>T p.G88V Missense 3/25 - 1
10-34806051-C-T c.259G>A p.G87R Missense 3/25 - 2
10-34806052-G-A c.258C>T p.H86= Synonymous 3/25 - 1
10-34806053-T-C c.257A>G p.H86R Missense 3/25 - 1
10-34806060-G-A c.250C>T p.P84S Missense 3/25 - 1
10-34806063-C-A c.247G>T p.D83Y Missense 3/25 - 2
10-34806069-C-A c.241G>T p.E81* Nonsense 3/25 - 1
10-34806069-C-T c.241G>A p.E81K Missense 3/25 - 1
10-34806071-T-G c.239A>C p.D80A Missense 3/25 - 3
10-34806072-C-G c.238G>C p.D80H Missense 3/25 - 1
10-34806075-A-C c.235T>G p.F79V Missense 3/25 - 1
10-34806075-A-T c.235T>A p.F79I Missense 3/25 - 1
10-34806078-C-A c.232G>T p.V78L Missense 3/25 - 1
10-34806079-TGC-ACA c.229_231delinsTGT p.A77C Missense 3/25 - 1
10-34806080-G-A c.230C>T p.A77V Missense 3/25 - 1
10-34806081-C-A c.229G>T p.A77S Missense 3/25 - 1
10-34806082-TA-GT c.227_228delinsAC p.V76D Missense 3/25 - 1
10-34806085-CAG-AAA c.223_225delinsTTT p.L75F Missense 3/25 - 1
10-34806087-G-C c.223C>G p.L75V Missense 3/25 - 1
10-34809388-C-T c.223-3301G>A - IntronicSNV - 2/24 1
10-34813742-G-A c.223-7655C>T - IntronicSNV - 2/24 1
10-34817988-G-A c.223-11901C>T - IntronicSNV - 2/24 4
10-34837629-A-T c.223-31542T>A - IntronicSNV - 2/24 1
10-34862662-A-C c.223-56575T>G - IntronicSNV - 2/24 1
10-34868254-T-C c.223-62167A>G - IntronicSNV - 2/24 1
10-34868409-G-GA c.223-62323dup - IntronicInsertion - 2/24 1
10-34875785-G-A c.223-69698C>T - IntronicSNV - 2/24 1
10-34877263-C-T c.223-71176G>A - IntronicSNV - 2/24 1
10-34894715-A-C c.223-88628T>G - IntronicSNV - 2/24 1
10-34895329-T-C c.223-89242A>G - IntronicSNV - 2/24 2
10-34896432-A-T c.222+88814T>A - IntronicSNV - 2/24 2
10-34896431-TA-T c.222+88814del - IntronicDeletion - 2/24 1
10-34896745-T-C c.222+88501A>G - IntronicSNV - 2/24 1
10-34897558-G-T c.222+87688C>A - IntronicSNV - 2/24 1
10-34899150-C-A c.222+86096G>T - IntronicSNV - 2/24 1
10-34901141-G-A c.222+84105C>T - IntronicSNV - 2/24 1
10-34911879-G-A c.222+73367C>T - IntronicSNV - 2/24 1
10-34911879-G-T c.222+73367C>A - IntronicSNV - 2/24 1
10-34918497-C-T c.222+66749G>A - IntronicSNV - 2/24 1
10-34921177-A-G c.222+64069T>C - IntronicSNV - 2/24 1
10-34921440-G-A c.222+63806C>T - IntronicSNV - 2/24 1
10-34936582-CT-C c.222+48663del - IntronicDeletion - 2/24 1
10-34937206-A-C c.222+48040T>G - IntronicSNV - 2/24 1
10-34943898-C-T c.222+41348G>A - IntronicSNV - 2/24 1
10-34944141-A-G c.222+41105T>C - IntronicSNV - 2/24 1
10-34944141-A-T c.222+41105T>A - IntronicSNV - 2/24 1
10-34946469-T-A c.222+38777A>T - IntronicSNV - 2/24 1
10-34955746-C-T c.222+29500G>A - IntronicSNV - 2/24 1
10-34958841-A-C c.222+26405T>G - IntronicSNV - 2/24 1
10-34964725-A-G c.222+20521T>C - IntronicSNV - 2/24 1
10-34970660-A-T c.222+14586T>A - IntronicSNV - 2/24 1
10-34979189-T-C c.222+6057A>G - IntronicSNV - 2/24 1
10-34979703-G-A c.222+5543C>T - IntronicSNV - 2/24 1
10-34984884-C-T c.222+362G>A - IntronicSNV - 2/24 1
10-34984959-A-G c.222+287T>C - IntronicSNV - 2/24 1
10-34985209-A-AT c.222+36dup - IntronicInsertion - 2/24 1
10-34985246-CTCTGTCTTTATCGTCTGCTACATCACAAAGAATGTCATCAAGGTCTAGTATTCCTCCAT-C c.164_222del p.D55Afs*6 InFrameDeletion 2/25 - 1
10-34985247-C-T c.221G>A p.R74K Missense 2/25 - 1
10-34985247-CT-TG c.220_221delinsCA p.R74Q Missense 2/25 - 1
10-34985251-C-T c.217G>A p.D73N Missense 2/25 - 1
10-34985257-C-T c.211G>A p.D71N Missense 2/25 - 2
10-34985258-GTC-CTT c.208_210delinsAAG p.D70K Missense 2/25 - 2
10-34985261-T-A c.207A>T p.A69= Synonymous 2/25 - 1
10-34985261-T-C c.207A>G p.A69= Synonymous 2/25 - 1
10-34985261-T-G c.207A>C p.A69= Synonymous 2/25 - 1
10-34985269-C-T c.199G>A p.D67N Missense 2/25 - 1
10-34985270-A-G c.198T>C p.C66= Synonymous 2/25 - 1
10-34985270-A-T c.198T>A p.C66* Nonsense 2/25 - 1
10-34985275-G-A c.193C>T p.L65F Missense 2/25 - 1
10-34985275-G-C c.193C>G p.L65V Missense 2/25 - 1
10-34985276-A-T c.192T>A p.I64= Synonymous 2/25 - 1
10-34985279-G-A c.189C>T p.D63= Synonymous 2/25 - 1
10-34985280-T-G c.188A>C p.D63A Missense 2/25 - 1
10-34985284-C-A c.184G>T p.D62Y Missense 2/25 - 1
10-34985290-C-T c.178G>A p.D60N Missense 2/25 - 1
10-34985291-T-A c.177A>T p.L59= Synonymous 2/25 - 1
10-34985291-T-C c.177A>G p.L59= Synonymous 2/25 - 1
10-34985291-T-G c.177A>C p.L59= Synonymous 2/25 - 1
10-34985293-G-A c.175C>T p.L59= Synonymous 2/25 - 1
10-34985294-T-A c.174A>T p.I58= Synonymous 2/25 - 1
10-34985294-T-C c.174A>G p.I58M Missense 2/25 - 2
10-34985298-CC-GT c.169_170delinsAC p.G57T Missense 2/25 - 1
10-34985298-C-T c.170G>A p.G57E Missense 2/25 - 1
10-34985299-C-G c.169G>C p.G57R Missense 2/25 - 1
10-34985299-C-T c.169G>A p.G57R Missense 2/25 - 1
10-34985302-C-G c.166G>C p.G56R Missense 2/25 - 4
10-34985302-C-T c.166G>A p.G56R Missense 2/25 - 4
10-34985303-A-G c.165T>C p.D55= Synonymous 2/25 - 1
10-34985304-T-A c.164A>T p.D55V Missense 2/25 - 1
10-34985307-C-A c.161G>T p.G54V Missense 2/25 - 1
10-34985314-C-T c.154G>A p.E52K Missense 2/25 - 1
10-34985316-AA-GC c.151_152delinsGC p.L51A Missense 2/25 - 1
10-34985316-A-C c.152T>G p.L51W Missense 2/25 - 3
10-34985319-C-T c.149G>A p.R50H Missense 2/25 - 2
10-34985320-G-A c.148C>T p.R50C Missense 2/25 - 4
10-34985320-G-C c.148C>G p.R50G Missense 2/25 - 2
10-34985323-G-A c.145C>T p.H49Y Missense 2/25 - 1
10-34985325-A-G c.143T>C p.V48A Missense 2/25 - 2
10-34985327-C-A c.141G>T p.Q47H Missense 2/25 - 2
10-34985327-C-G c.141G>C p.Q47H Missense 2/25 - 2
10-34985329-G-GT c.138dup p.Q47Tfs*16 Frameshift 2/25 - 1
10-34985333-C-T c.135G>A p.W45* Nonsense 2/25 - 1
10-34985334-C-T c.134G>A p.W45* Nonsense 2/25 - 1
10-34985335-A-G c.133T>C p.W45R Missense 2/25 - 1
10-34985335-A-T c.133T>A p.W45R Missense 2/25 - 1
10-34985343-G-T c.125C>A p.P42Q Missense 2/25 - 1
10-34985345-A-G c.123T>C p.D41= Synonymous 2/25 - 2
10-34988455-G-C c.121-3108C>G - IntronicSNV - 1/24 1
10-35014082-A-G c.121-28735T>C - IntronicSNV - 1/24 1
10-35014082-A-T c.121-28735T>A - IntronicSNV - 1/24 1
10-35021538-G-A c.121-36191C>T - IntronicSNV - 1/24 1
10-35023250-C-T c.121-37903G>A - IntronicSNV - 1/24 1
10-35025593-T-A c.121-40246A>T - IntronicSNV - 1/24 1
10-35028713-T-C c.121-43366A>G - IntronicSNV - 1/24 1
10-35029862-G-T c.121-44515C>A - IntronicSNV - 1/24 1
10-35030501-T-C c.121-45154A>G - IntronicSNV - 1/24 1
10-35030501-T-G c.121-45154A>C - IntronicSNV - 1/24 1
10-35045934-C-G c.120+57870G>C - IntronicSNV - 1/24 1
10-35048382-A-G c.120+55422T>C - IntronicSNV - 1/24 1
10-35048383-A-G c.120+55421T>C - IntronicSNV - 1/24 1
10-35048917-T-A c.120+54887A>T - IntronicSNV - 1/24 1
10-35049995-CA-C c.120+53808del - IntronicDeletion - 1/24 1
10-35050222-C-T c.120+53582G>A - IntronicSNV - 1/24 1
10-35050760-C-CA c.120+53043dup - IntronicInsertion - 1/24 1
10-35058208-T-G c.120+45596A>C - IntronicSNV - 1/24 1
10-35058727-C-CAAA c.120+45074_120+45076dup - IntronicInsertion - 1/24 1
10-35058727-C-CAA c.120+45075_120+45076dup - IntronicInsertion - 1/24 1
10-35058727-C-CA c.120+45076dup - IntronicInsertion - 1/24 1
10-35058727-C-CAAAAAAAAA c.120+45076_120+45077insTTTTTTTTT - IntronicInsertion - 1/24 1
10-35058727-C-CAAAAAAAAAA c.120+45076_120+45077insTTTTTTTTTT - IntronicInsertion - 1/24 1
10-35058727-C-CAAAAAAAAAAAAA c.120+45076_120+45077insTTTTTTTTTTTTT - IntronicInsertion - 1/24 1
10-35058732-C-A c.120+45072G>T - IntronicSNV - 1/24 1
10-35058877-C-G c.120+44927G>C - IntronicSNV - 1/24 1
10-35058930-C-T c.120+44874G>A - IntronicSNV - 1/24 1
10-35059013-C-T c.120+44791G>A - IntronicSNV - 1/24 1
10-35060247-T-C c.120+43557A>G - IntronicSNV - 1/24 1
10-35065245-C-T c.120+38559G>A - IntronicSNV - 1/24 1
10-35068393-A-T c.120+35411T>A - IntronicSNV - 1/24 1
10-35069885-T-A c.120+33919A>T - IntronicSNV - 1/24 1
10-35070155-G-A c.120+33649C>T - IntronicSNV - 1/24 1
10-35075817-T-G c.120+27987A>C - IntronicSNV - 1/24 1
10-35077003-C-T c.120+26801G>A - IntronicSNV - 1/24 1
10-35086006-T-A c.120+17798A>T - IntronicSNV - 1/24 1
10-35087192-A-G c.120+16612T>C - IntronicSNV - 1/24 1
10-35087339-A-G c.120+16465T>C - IntronicSNV - 1/24 1
10-35089399-C-A c.120+14405G>T - IntronicSNV - 1/24 1
10-35089399-C-G c.120+14405G>C - IntronicSNV - 1/24 1
10-35089399-C-T c.120+14405G>A - IntronicSNV - 1/24 1
10-35093290-AT-A c.120+10513del - IntronicDeletion - 1/24 1
10-35099799-G-A c.120+4005C>T - IntronicSNV - 1/24 1
10-35100369-C-A c.120+3435G>T - IntronicSNV - 1/24 1
10-35100739-C-T c.120+3065G>A - IntronicSNV - 1/24 1
10-35100812-G-A c.120+2992C>T - IntronicSNV - 1/24 1
10-35100812-G-C c.120+2992C>G - IntronicSNV - 1/24 1
10-35103684-G-A c.120+120C>T - IntronicSNV - 1/24 3
10-35103684-G-C c.120+120C>G - IntronicSNV - 1/24 2
10-35103765-G-C c.120+39C>G - IntronicSNV - 1/24 1
10-35103768-G-C c.120+36C>G - IntronicSNV - 1/24 1
10-35103771-G-C c.120+33C>G - IntronicSNV - 1/24 1
10-35103777-T-C c.120+27A>G - IntronicSNV - 1/24 1
10-35103782-G-C c.120+22C>G - IntronicSNV - 1/24 2
10-35103786-G-C c.120+18C>G - IntronicSNV - 1/24 1
10-35103788-G-C c.120+16C>G - IntronicSNV - 1/24 1
10-35103807-GG-CT c.116_117delinsAG p.A39E Missense 1/25 - 1
10-35103808-GC-AG c.115_116delinsCT p.A39L Missense 1/25 - 1
10-35103811-A-G c.113T>C p.I38T Missense 1/25 - 2
10-35103820-C-A c.104G>T p.R35L Missense 1/25 - 1
10-35103823-TA-GG c.100_101delinsCC p.Y34P Missense 1/25 - 1
10-35103828-G-A c.96C>T p.T32= Synonymous 1/25 - 1
10-35103828-GG-CT c.95_96delinsAG p.T32K Missense 1/25 - 1
10-35103830-T-A c.94A>T p.T32S Missense 1/25 - 1
10-35103834-C-G c.90G>C p.A30= Synonymous 1/25 - 1
10-35103835-G-A c.89C>T p.A30V Missense 1/25 - 1
10-35103835-G-T c.89C>A p.A30E Missense 1/25 - 1
10-35103837-C-G c.87G>C p.Q29H Missense 1/25 - 1
10-35103838-T-C c.86A>G p.Q29R Missense 1/25 - 1
10-35103839-G-C c.85C>G p.Q29E Missense 1/25 - 1
10-35103839-G-T c.85C>A p.Q29K Missense 1/25 - 1
10-35103842-G-GCC c.81_82insGG p.Q28Gfs*5 Frameshift 1/25 - 1
10-35103842-G-T c.82C>A p.Q28K Missense 1/25 - 1
10-35103846-G-C c.78C>G p.L26= Synonymous 1/25 - 1
10-35103846-G-GT c.77_78insA p.I27Hfs*36 Frameshift 1/25 - 1
10-35103850-C-T c.74G>A p.S25N Missense 1/25 - 2
10-35103855-A-C c.69T>G p.V23= Synonymous 1/25 - 1
10-35103855-A-G c.69T>C p.V23= Synonymous 1/25 - 1
10-35103855-A-T c.69T>A p.V23= Synonymous 1/25 - 1
10-35103862-A-G c.62T>C p.M21T Missense 1/25 - 1
10-35103865-T-C c.59A>G p.H20R Missense 1/25 - 2
10-35103867-GC-CT c.56_57delinsAG p.G19E Missense 1/25 - 1
10-35103870-G-A c.54C>T p.D18= Synonymous 1/25 - 1
10-35103871-T-C c.53A>G p.D18G Missense 1/25 - 1
10-35103872-C-G c.52G>C p.D18H Missense 1/25 - 1
10-35103873-C-T c.51G>A p.G17= Synonymous 1/25 - 1
10-35103877-CA-AT c.46_47delinsAT p.C16I Missense 1/25 - 1
10-35103877-CA-GC c.46_47delinsGC p.C16A Missense 1/25 - 2
10-35103878-A-G c.46T>C p.C16R Missense 1/25 - 1
10-35103880-G-A c.44C>T p.P15L Missense 1/25 - 1
10-35103884-C-G c.40G>C p.V14L Missense 1/25 - 1
10-35103886-A-T c.38T>A p.V13D Missense 1/25 - 3
10-35103892-C-CG c.31dup p.R11Pfs*52 Frameshift 1/25 - 1
10-35103897-CCG-ACA c.25_27delinsTGT p.R9C Missense 1/25 - 1
10-35103905-A-G c.19T>C p.F7L Missense 1/25 - 1
10-35103911-C-T c.13G>A p.V5M Missense 1/25 - 1
10-35103912-G-A c.12C>T p.T4= Synonymous 1/25 - 2
10-35103912-G-C c.12C>G p.T4= Synonymous 1/25 - 2
10-35103912-G-T c.12C>A p.T4= Synonymous 1/25 - 2
10-35103914-T-G c.10A>C p.T4P Missense 1/25 - 1
10-35103915-CAC-GAT c.7_9delinsATC p.V3I Missense 1/25 - 1
10-35103916-A-T c.8T>A p.V3E Missense 1/25 - 1
10-35103918-T-C c.6A>G p.K2= Synonymous 1/25 - 1
10-35103919-T-C c.5A>G p.K2R Missense 1/25 - 1
10-35103922-A-T c.2T>A p.M1? Missense 1/25 - 1
10-35104026-G-A c.-103C>T - 5-UTRSNV 1/25 - 4
10-35104026-G-T c.-103C>A - 5-UTRSNV 1/25 - 4
10-35104146-T-G c.-223A>C - 5-UTRSNV 1/25 - 2
10-35104190-G-T c.-267C>A - 5-UTRSNV 1/25 - 2