Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
8-103661342-G-A | c.*1018C>T | - | 3-UTRSNV | 4/4 | - | 4 |
8-103661342-G-T | c.*1018C>A | - | 3-UTRSNV | 4/4 | - | 4 |
8-103661730-T-C | c.*630A>G | - | 3-UTRSNV | 4/4 | - | 1 |
8-103661811-T-C | c.*549A>G | - | 3-UTRSNV | 4/4 | - | 2 |
8-103662219-G-A | c.*141C>T | - | 3-UTRSNV | 4/4 | - | 11 |
8-103662353-C-T | c.*7G>A | - | 3-UTRSNV | 4/4 | - | 1 |
8-103662378-G-A | c.1425C>T | p.T475= | Synonymous | 4/4 | - | 1 |
8-103662378-G-C | c.1425C>G | p.T475= | Synonymous | 4/4 | - | 1 |
8-103662378-G-T | c.1425C>A | p.T475= | Synonymous | 4/4 | - | 1 |
8-103662380-T-C | c.1423A>G | p.T475A | Missense | 4/4 | - | 1 |
8-103662381-T-A | c.1422A>T | p.P474= | Synonymous | 4/4 | - | 1 |
8-103662382-G-A | c.1421C>T | p.P474L | Missense | 4/4 | - | 3 |
8-103662386-G-A | c.1417C>T | p.P473S | Missense | 4/4 | - | 1 |
8-103662391-G-C | c.1412C>G | p.A471G | Missense | 4/4 | - | 1 |
8-103662397-T-A | c.1406A>T | p.D469V | Missense | 4/4 | - | 1 |
8-103662404-G-C | c.1399C>G | p.L467V | Missense | 4/4 | - | 1 |
8-103662409-C-A | c.1394G>T | p.S465I | Missense | 4/4 | - | 2 |
8-103662413-C-A | c.1390G>T | p.V464L | Missense | 4/4 | - | 1 |
8-103662413-C-G | c.1390G>C | p.V464L | Missense | 4/4 | - | 1 |
8-103662416-C-T | c.1387G>A | p.E463K | Missense | 4/4 | - | 1 |
8-103662422-G-T | c.1381C>A | p.Q461K | Missense | 4/4 | - | 1 |
8-103662433-A-G | c.1370T>C | p.L457P | Missense | 4/4 | - | 1 |
8-103662435-C-G | c.1368G>C | p.K456N | Missense | 4/4 | - | 1 |
8-103662439-T-C | c.1364A>G | p.K455R | Missense | 4/4 | - | 1 |
8-103662442-G-A | c.1361C>T | p.A454V | Missense | 4/4 | - | 1 |
8-103662443-C-T | c.1360G>A | p.A454T | Missense | 4/4 | - | 1 |
8-103662445-G-A | c.1358C>T | p.S453L | Missense | 4/4 | - | 1 |
8-103662453-GCG-TCA | c.1348_1350delinsTGA | p.R450* | Nonsense | 4/4 | - | 2 |
8-103662454-C-T | c.1349G>A | p.R450H | Missense | 4/4 | - | 2 |
8-103662455-G-A | c.1348C>T | p.R450C | Missense | 4/4 | - | 4 |
8-103662456-C-T | c.1347G>A | p.R449= | Synonymous | 4/4 | - | 1 |
8-103662458-G-A | c.1345C>T | p.R449W | Missense | 4/4 | - | 1 |
8-103662460-G-A | c.1343C>T | p.A448V | Missense | 4/4 | - | 6 |
8-103662468-GGT-CTC | c.1333_1335delinsGAG | p.T445E | Missense | 4/4 | - | 1 |
8-103662470-T-C | c.1333A>G | p.T445A | Missense | 4/4 | - | 1 |
8-103662481-C-T | c.1322G>A | p.S441N | Missense | 4/4 | - | 2 |
8-103662482-T-C | c.1321A>G | p.S441G | Missense | 4/4 | - | 1 |
8-103662485-T-A | c.1318A>T | p.R440W | Missense | 4/4 | - | 1 |
8-103662492-C-A | c.1311G>T | p.R437= | Synonymous | 4/4 | - | 1 |
8-103662492-C-G | c.1311G>C | p.R437= | Synonymous | 4/4 | - | 1 |
8-103662492-C-T | c.1311G>A | p.R437= | Synonymous | 4/4 | - | 1 |
8-103662494-G-T | c.1309C>A | p.R437= | Synonymous | 4/4 | - | 1 |
8-103662497-G-A | c.1306C>T | p.R436W | Missense | 4/4 | - | 2 |
8-103662506-T-C | c.1297A>G | p.M433V | Missense | 4/4 | - | 1 |
8-103662507-G-A | c.1296C>T | p.P432= | Synonymous | 4/4 | - | 1 |
8-103662507-G-C | c.1296C>G | p.P432= | Synonymous | 4/4 | - | 1 |
8-103662507-G-T | c.1296C>A | p.P432= | Synonymous | 4/4 | - | 1 |
8-103662514-G-A | c.1289C>T | p.A430V | Missense | 4/4 | - | 4 |
8-103662516-A-G | c.1287T>C | p.F429= | Synonymous | 4/4 | - | 1 |
8-103662517-A-C | c.1286T>G | p.F429C | Missense | 4/4 | - | 2 |
8-103662529-C-T | c.1274G>A | p.G425D | Missense | 4/4 | - | 2 |
8-103662530-C-A | c.1273G>T | p.G425C | Missense | 4/4 | - | 1 |
8-103662532-G-A | c.1271C>T | p.T424M | Missense | 4/4 | - | 1 |
8-103662532-G-T | c.1271C>A | p.T424K | Missense | 4/4 | - | 1 |
8-103662539-T-C | c.1264A>G | p.T422A | Missense | 4/4 | - | 1 |
8-103662550-C-T | c.1253G>A | p.R418K | Missense | 4/4 | - | 1 |
8-103662557-G-C | c.1246C>G | p.L416V | Missense | 4/4 | - | 1 |
8-103662565-G-A | c.1238C>T | p.S413F | Missense | 4/4 | - | 6 |
8-103662568-C-T | c.1235G>A | p.R412H | Missense | 4/4 | - | 1 |
8-103662569-G-A | c.1234C>T | p.R412C | Missense | 4/4 | - | 1 |
8-103662570-G-A | c.1233C>T | p.A411= | Synonymous | 4/4 | - | 3 |
8-103662572-C-T | c.1231G>A | p.A411T | Missense | 4/4 | - | 1 |
8-103662573-A-C | c.1230T>G | p.F410L | Missense | 4/4 | - | 1 |
8-103662573-A-T | c.1230T>A | p.F410L | Missense | 4/4 | - | 1 |
8-103662575-A-G | c.1228T>C | p.F410L | Missense | 4/4 | - | 1 |
8-103662590-C-T | c.1213G>A | p.G405S | Missense | 4/4 | - | 1 |
8-103662598-CT-AA | c.1204_1205delinsTT | p.S402F | Missense | 4/4 | - | 1 |
8-103662601-C-T | c.1202G>A | p.C401Y | Missense | 4/4 | - | 1 |
8-103662613-T-C | c.1190A>G | p.K397R | Missense | 4/4 | - | 1 |
8-103662613-T-G | c.1190A>C | p.K397T | Missense | 4/4 | - | 4 |
8-103662852-T-C | c.1184-233A>G | - | IntronicSNV | - | 3/3 | 2 |
8-103663384-C-G | c.1176G>C | p.T392= | Synonymous | 3/4 | - | 2 |
8-103663384-C-T | c.1176G>A | p.T392= | Synonymous | 3/4 | - | 2 |
8-103663385-G-A | c.1175C>T | p.T392M | Missense | 3/4 | - | 1 |
8-103663386-T-C | c.1174A>G | p.T392A | Missense | 3/4 | - | 1 |
8-103663389-T-C | c.1171A>G | p.R391G | Missense | 3/4 | - | 1 |
8-103663390-C-T | c.1170G>A | p.T390= | Synonymous | 3/4 | - | 2 |
8-103663391-G-A | c.1169C>T | p.T390M | Missense | 3/4 | - | 3 |
8-103663397-G-T | c.1163C>A | p.A388D | Missense | 3/4 | - | 1 |
8-103663402-TC-T | c.1158del | p.K387Rfs*53 | Frameshift | 3/4 | - | 2 |
8-103663408-GGA-CTC | c.1150_1152delinsGAG | p.S384E | Missense | 3/4 | - | 1 |
8-103663410-A-C | c.1150T>G | p.S384A | Missense | 3/4 | - | 1 |
8-103663412-C-T | c.1148G>A | p.S383N | Missense | 3/4 | - | 1 |
8-103663423-T-A | c.1137A>T | p.T379= | Synonymous | 3/4 | - | 2 |
8-103663423-T-C | c.1137A>G | p.T379= | Synonymous | 3/4 | - | 2 |
8-103663423-T-G | c.1137A>C | p.T379= | Synonymous | 3/4 | - | 2 |
8-103663423-TG-CA | c.1136_1137inv | p.T379M | Missense | 3/4 | - | 1 |
8-103663426-C-A | c.1134G>T | p.K378N | Missense | 3/4 | - | 1 |
8-103663426-C-G | c.1134G>C | p.K378N | Missense | 3/4 | - | 1 |
8-103663435-T-A | c.1125A>T | p.G375= | Synonymous | 3/4 | - | 1 |
8-103663436-C-T | c.1124G>A | p.G375E | Missense | 3/4 | - | 1 |
8-103663445-CT-TA | c.1114_1115delinsTA | p.S372Y | Missense | 3/4 | - | 1 |
8-103663454-T-C | c.1106A>G | p.H369R | Missense | 3/4 | - | 1 |
8-103663457-CT-AG | c.1102_1103inv | p.S368L | Missense | 3/4 | - | 1 |
8-103663469-G-C | c.1091C>G | p.S364* | Nonsense | 3/4 | - | 2 |
8-103663469-G-T | c.1091C>A | p.S364* | Nonsense | 3/4 | - | 2 |
8-103663471-T-A | c.1089A>T | p.S363= | Synonymous | 3/4 | - | 2 |
8-103663471-T-C | c.1089A>G | p.S363= | Synonymous | 3/4 | - | 1 |
8-103663471-T-G | c.1089A>C | p.S363= | Synonymous | 3/4 | - | 1 |
8-103663478-A-T | c.1082T>A | p.I361N | Missense | 3/4 | - | 1 |
8-103663479-T-A | c.1081A>T | p.I361F | Missense | 3/4 | - | 1 |
8-103663482-G-C | c.1078C>G | p.Q360E | Missense | 3/4 | - | 1 |
8-103663484-G-A | c.1076C>T | p.P359L | Missense | 3/4 | - | 4 |
8-103663485-G-A | c.1075C>T | p.P359S | Missense | 3/4 | - | 1 |
8-103663491-C-T | c.1069G>A | p.V357I | Missense | 3/4 | - | 2 |
8-103663499-G-A | c.1061C>T | p.A354V | Missense | 3/4 | - | 1 |
8-103663500-C-A | c.1060G>T | p.A354S | Missense | 3/4 | - | 1 |
8-103663500-C-T | c.1060G>A | p.A354T | Missense | 3/4 | - | 1 |
8-103663505-G-A | c.1055C>T | p.P352L | Missense | 3/4 | - | 4 |
8-103663506-G-A | c.1054C>T | p.P352S | Missense | 3/4 | - | 2 |
8-103663507-G-A | c.1053C>T | p.S351= | Synonymous | 3/4 | - | 1 |
8-103663507-G-C | c.1053C>G | p.S351= | Synonymous | 3/4 | - | 1 |
8-103663507-G-T | c.1053C>A | p.S351= | Synonymous | 3/4 | - | 1 |
8-103663517-G-A | c.1043C>T | p.P348L | Missense | 3/4 | - | 3 |
8-103663519-A-C | c.1041T>G | p.A347= | Synonymous | 3/4 | - | 1 |
8-103663519-A-G | c.1041T>C | p.A347= | Synonymous | 3/4 | - | 2 |
8-103663519-A-T | c.1041T>A | p.A347= | Synonymous | 3/4 | - | 1 |
8-103663521-C-A | c.1039G>T | p.A347S | Missense | 3/4 | - | 1 |
8-103663526-G-A | c.1034C>T | p.A345V | Missense | 3/4 | - | 1 |
8-103663533-G-A | c.1027C>T | p.P343S | Missense | 3/4 | - | 4 |
8-103663537-G-C | c.1023C>G | p.L341= | Synonymous | 3/4 | - | 1 |
8-103663547-C-T | c.1013G>A | p.G338D | Missense | 3/4 | - | 2 |
8-103663549-A-G | c.1011T>C | p.N337= | Synonymous | 3/4 | - | 1 |
8-103663550-T-C | c.1010A>G | p.N337S | Missense | 3/4 | - | 3 |
8-103663552-C-T | c.1008G>A | p.P336= | Synonymous | 3/4 | - | 1 |
8-103663553-G-A | c.1007C>T | p.P336L | Missense | 3/4 | - | 1 |
8-103663555-G-A | c.1005C>T | p.S335= | Synonymous | 3/4 | - | 1 |
8-103663555-G-C | c.1005C>G | p.S335R | Missense | 3/4 | - | 1 |
8-103663555-G-T | c.1005C>A | p.S335R | Missense | 3/4 | - | 1 |
8-103663557-T-G | c.1003A>C | p.S335R | Missense | 3/4 | - | 1 |
8-103663556-C-T | c.1004G>A | p.S335N | Missense | 3/4 | - | 3 |
8-103663564-C-G | c.996G>C | p.P332= | Synonymous | 3/4 | - | 1 |
8-103663565-G-A | c.995C>T | p.P332L | Missense | 3/4 | - | 3 |
8-103663566-G-A | c.994C>T | p.P332S | Missense | 3/4 | - | 2 |
8-103663566-G-C | c.994C>G | p.P332A | Missense | 3/4 | - | 1 |
8-103663568-G-A | c.992C>T | p.P331L | Missense | 3/4 | - | 6 |
8-103663568-G-T | c.992C>A | p.P331H | Missense | 3/4 | - | 1 |
8-103663570-C-A | c.990G>T | p.K330N | Missense | 3/4 | - | 1 |
8-103663574-G-A | c.986C>T | p.S329L | Missense | 3/4 | - | 4 |
8-103663581-G-A | c.979C>T | p.Q327* | Nonsense | 3/4 | - | 2 |
8-103663587-C-T | c.973G>A | p.V325I | Missense | 3/4 | - | 1 |
8-103663588-G-A | c.972C>T | p.P324= | Synonymous | 3/4 | - | 2 |
8-103663588-G-C | c.972C>G | p.P324= | Synonymous | 3/4 | - | 1 |
8-103663588-G-T | c.972C>A | p.P324= | Synonymous | 3/4 | - | 1 |
8-103663590-G-C | c.970C>G | p.P324A | Missense | 3/4 | - | 1 |
8-103663602-C-T | c.958G>A | p.V320M | Missense | 3/4 | - | 3 |
8-103663614-C-T | c.946G>A | p.A316T | Missense | 3/4 | - | 4 |
8-103663619-T-C | c.941A>G | p.K314R | Missense | 3/4 | - | 2 |
8-103663622-G-A | c.938C>T | p.P313L | Missense | 3/4 | - | 1 |
8-103663623-G-A | c.937C>T | p.P313S | Missense | 3/4 | - | 3 |
8-103663624-G-A | c.936C>T | p.V312= | Synonymous | 3/4 | - | 1 |
8-103663624-G-C | c.936C>G | p.V312= | Synonymous | 3/4 | - | 1 |
8-103663624-G-T | c.936C>A | p.V312= | Synonymous | 3/4 | - | 1 |
8-103663631-G-GTTCA | c.928_929insTGAA | p.T310Mfs*54 | Frameshift | 3/4 | - | 1 |
8-103663633-G-GGGCACACAAGT | c.926_927insACTTGTGTGCC | p.T310Lfs*29 | Frameshift | 3/4 | - | 1 |
8-103663642-C-A | c.918G>T | p.V306= | Synonymous | 3/4 | - | 2 |
8-103663642-C-G | c.918G>C | p.V306= | Synonymous | 3/4 | - | 1 |
8-103663642-C-T | c.918G>A | p.V306= | Synonymous | 3/4 | - | 1 |
8-103663642-CACA-C | c.915_917del | p.V306del | InFrameDeletion | 3/4 | - | 1 |
8-103663647-C-T | c.913G>A | p.V305I | Missense | 3/4 | - | 1 |
8-103663649-G-T | c.911C>A | p.P304H | Missense | 3/4 | - | 2 |
8-103663655-C-A | c.905G>T | p.C302F | Missense | 3/4 | - | 1 |
8-103663655-C-T | c.905G>A | p.C302Y | Missense | 3/4 | - | 1 |
8-103663665-G-T | c.895C>A | p.P299T | Missense | 3/4 | - | 1 |
8-103663668-G-C | c.892C>G | p.P298A | Missense | 3/4 | - | 2 |
8-103663669-C-A | c.891G>T | p.Q297H | Missense | 3/4 | - | 1 |
8-103663669-C-G | c.891G>C | p.Q297H | Missense | 3/4 | - | 1 |
8-103663669-C-T | c.891G>A | p.Q297= | Synonymous | 3/4 | - | 2 |
8-103663675-G-A | c.885C>T | p.P295= | Synonymous | 3/4 | - | 1 |
8-103663675-G-C | c.885C>G | p.P295= | Synonymous | 3/4 | - | 1 |
8-103663675-G-T | c.885C>A | p.P295= | Synonymous | 3/4 | - | 1 |
8-103663676-G-A | c.884C>T | p.P295L | Missense | 3/4 | - | 1 |
8-103663692-C-T | c.868G>A | p.V290I | Missense | 3/4 | - | 1 |
8-103663701-T-A | c.859A>T | p.T287S | Missense | 3/4 | - | 1 |
8-103663704-C-A | c.856G>T | p.V286L | Missense | 3/4 | - | 1 |
8-103663704-C-G | c.856G>C | p.V286L | Missense | 3/4 | - | 1 |
8-103663706-A-G | c.854T>C | p.V285A | Missense | 3/4 | - | 1 |
8-103663709-G-A | c.851C>T | p.P284L | Missense | 3/4 | - | 1 |
8-103663712-T-C | c.848A>G | p.N283S | Missense | 3/4 | - | 1 |
8-103663718-G-C | c.842C>G | p.A281G | Missense | 3/4 | - | 1 |
8-103663723-A-C | c.837T>G | p.L279= | Synonymous | 3/4 | - | 1 |
8-103663723-A-G | c.837T>C | p.L279= | Synonymous | 3/4 | - | 1 |
8-103663723-A-T | c.837T>A | p.L279= | Synonymous | 3/4 | - | 1 |
8-103663725-G-A | c.835C>T | p.L279F | Missense | 3/4 | - | 1 |
8-103663727-G-A | c.833C>T | p.P278L | Missense | 3/4 | - | 1 |
8-103663728-G-A | c.832C>T | p.P278S | Missense | 3/4 | - | 1 |
8-103663737-G-A | c.823C>T | p.Q275* | Nonsense | 3/4 | - | 1 |
8-103663744-G-T | c.816C>A | p.V272= | Synonymous | 3/4 | - | 1 |
8-103663746-C-A | c.814G>T | p.V272F | Missense | 3/4 | - | 1 |
8-103663746-C-G | c.814G>C | p.V272L | Missense | 3/4 | - | 1 |
8-103663752-T-C | c.808A>G | p.M270V | Missense | 3/4 | - | 1 |
8-103663752-T-G | c.808A>C | p.M270L | Missense | 3/4 | - | 1 |
8-103663755-G-A | c.805C>T | p.P269S | Missense | 3/4 | - | 1 |
8-103663762-T-C | c.798A>G | p.G266= | Synonymous | 3/4 | - | 1 |
8-103663764-C-G | c.796G>C | p.G266R | Missense | 3/4 | - | 1 |
8-103663764-C-T | c.796G>A | p.G266R | Missense | 3/4 | - | 1 |
8-103663765-C-A | c.795G>T | p.G265= | Synonymous | 3/4 | - | 1 |
8-103663773-GA-G | c.787del | p.S263Lfs*24 | Frameshift | 3/4 | - | 1 |
8-103663775-A-AT | c.784_785insA | p.V262Dfs*101 | Frameshift | 3/4 | - | 1 |
8-103663775-A-G | c.785T>C | p.V262A | Missense | 3/4 | - | 1 |
8-103663777-T-A | c.783A>T | p.A261= | Synonymous | 3/4 | - | 2 |
8-103663777-T-C | c.783A>G | p.A261= | Synonymous | 3/4 | - | 2 |
8-103663777-T-G | c.783A>C | p.A261= | Synonymous | 3/4 | - | 2 |
8-103663783-T-G | c.777A>C | p.P259= | Synonymous | 3/4 | - | 1 |
8-103663785-G-A | c.775C>T | p.P259S | Missense | 3/4 | - | 1 |
8-103663785-G-T | c.775C>A | p.P259T | Missense | 3/4 | - | 1 |
8-103663799-GA-CT | c.760_761delinsAG | p.S254R | Missense | 3/4 | - | 1 |
8-103663801-C-T | c.759G>A | p.K253= | Synonymous | 3/4 | - | 1 |
8-103663806-G-C | c.754C>G | p.Q252E | Missense | 3/4 | - | 1 |
8-103663808-TG-AC | c.751_752delinsGT | p.Q251V | Missense | 3/4 | - | 1 |
8-103663814-G-A | c.746C>T | p.S249F | Missense | 3/4 | - | 9 |
8-103663816-C-T | c.744G>A | p.V248= | Synonymous | 3/4 | - | 1 |
8-103663817-AC-GA | c.742_743delinsTC | p.V248S | Missense | 3/4 | - | 1 |
8-103663817-A-G | c.743T>C | p.V248A | Missense | 3/4 | - | 1 |
8-103663818-C-T | c.742G>A | p.V248M | Missense | 3/4 | - | 1 |
8-103663821-G-A | c.739C>T | p.P247S | Missense | 3/4 | - | 2 |
8-103663823-G-T | c.737C>A | p.A246D | Missense | 3/4 | - | 1 |
8-103663828-C-T | c.732G>A | p.Q244= | Synonymous | 3/4 | - | 1 |
8-103663830-G-A | c.730C>T | p.Q244* | Nonsense | 3/4 | - | 3 |
8-103663836-T-A | c.724A>T | p.R242W | Missense | 3/4 | - | 1 |
8-103663837-G-A | c.723C>T | p.C241= | Synonymous | 3/4 | - | 2 |
8-103663840-G-A | c.720C>T | p.I240= | Synonymous | 3/4 | - | 1 |
8-103663840-G-C | c.720C>G | p.I240M | Missense | 3/4 | - | 1 |
8-103663842-T-C | c.718A>G | p.I240V | Missense | 3/4 | - | 1 |
8-103663847-G-A | c.713C>T | p.T238M | Missense | 3/4 | - | 3 |
8-103663859-G-A | c.701C>T | p.P234L | Missense | 3/4 | - | 3 |
8-103663866-A-C | c.694T>G | p.S232A | Missense | 3/4 | - | 1 |
8-103663867-A-C | c.693T>G | p.F231L | Missense | 3/4 | - | 1 |
8-103663867-A-T | c.693T>A | p.F231L | Missense | 3/4 | - | 1 |
8-103663869-A-G | c.691T>C | p.F231L | Missense | 3/4 | - | 1 |
8-103663875-A-G | c.685T>C | p.Y229H | Missense | 3/4 | - | 1 |
8-103663876-A-C | c.684T>G | p.L228= | Synonymous | 3/4 | - | 1 |
8-103663876-A-T | c.684T>A | p.L228= | Synonymous | 3/4 | - | 1 |
8-103663886-C-A | c.674G>T | p.S225I | Missense | 3/4 | - | 1 |
8-103663886-C-T | c.674G>A | p.S225N | Missense | 3/4 | - | 4 |
8-103663887-T-C | c.673A>G | p.S225G | Missense | 3/4 | - | 2 |
8-103663890-C-T | c.670G>A | p.A224T | Missense | 3/4 | - | 1 |
8-103663897-A-C | c.663T>G | p.D221E | Missense | 3/4 | - | 1 |
8-103663897-A-T | c.663T>A | p.D221E | Missense | 3/4 | - | 1 |
8-103663899-C-A | c.661G>T | p.D221Y | Missense | 3/4 | - | 1 |
8-103663901-A-C | c.659T>G | p.V220G | Missense | 3/4 | - | 1 |
8-103663904-T-G | c.656A>C | p.D219A | Missense | 3/4 | - | 1 |
8-103663908-C-A | c.652G>T | p.A218S | Missense | 3/4 | - | 1 |
8-103663912-T-A | c.648A>T | p.T216= | Synonymous | 3/4 | - | 4 |
8-103663912-T-C | c.648A>G | p.T216= | Synonymous | 3/4 | - | 4 |
8-103663912-T-G | c.648A>C | p.T216= | Synonymous | 3/4 | - | 16 |
8-103663914-T-C | c.646A>G | p.T216A | Missense | 3/4 | - | 3 |
8-103663918-TCT-GTC | c.640_642delinsGAC | p.R214D | Missense | 3/4 | - | 1 |
8-103663923-C-T | c.637G>A | p.E213K | Missense | 3/4 | - | 1 |
8-103663924-A-G | c.636T>C | p.C212= | Synonymous | 3/4 | - | 1 |
8-103663925-CA-GG | c.634_635delinsCC | p.C212P | Missense | 3/4 | - | 1 |
8-103663925-C-T | c.635G>A | p.C212Y | Missense | 3/4 | - | 1 |
8-103663931-G-T | c.629C>A | p.S210Y | Missense | 3/4 | - | 2 |
8-103663932-ATC-A | c.626_627del | p.R209Ifs*4 | Frameshift | 3/4 | - | 1 |
8-103663949-G-A | c.611C>T | p.A204V | Missense | 3/4 | - | 1 |
8-103663949-G-C | c.611C>G | p.A204G | Missense | 3/4 | - | 1 |
8-103663950-C-T | c.610G>A | p.A204T | Missense | 3/4 | - | 2 |
8-103663951-G-A | c.609C>T | p.A203= | Synonymous | 3/4 | - | 1 |
8-103663952-G-A | c.608C>T | p.A203V | Missense | 3/4 | - | 1 |
8-103663953-C-T | c.607G>A | p.A203T | Missense | 3/4 | - | 1 |
8-103663967-T-C | c.593A>G | p.K198R | Missense | 3/4 | - | 1 |
8-103663970-C-A | c.590G>T | p.R197I | Missense | 3/4 | - | 1 |
8-103663974-C-T | c.586G>A | p.A196T | Missense | 3/4 | - | 1 |
8-103663980-C-T | c.580G>A | p.E194K | Missense | 3/4 | - | 3 |
8-103663988-AG-CC | c.571_572delinsGG | p.L191G | Missense | 3/4 | - | 1 |
8-103663993-G-A | c.567C>T | p.T189= | Synonymous | 3/4 | - | 1 |
8-103663993-G-C | c.567C>G | p.T189= | Synonymous | 3/4 | - | 1 |
8-103663993-G-T | c.567C>A | p.T189= | Synonymous | 3/4 | - | 1 |
8-103663994-G-C | c.566C>G | p.T189S | Missense | 3/4 | - | 2 |
8-103663994-GT-TC | c.565_566delinsGA | p.T189D | Missense | 3/4 | - | 1 |
8-103663995-T-C | c.565A>G | p.T189A | Missense | 3/4 | - | 1 |
8-103664000-C-T | c.560G>A | p.R187K | Missense | 3/4 | - | 1 |
8-103663994-GTTC-G | c.563_565del | p.R188del | InFrameDeletion | 3/4 | - | 1 |
8-103664003-C-A | c.557G>T | p.R186I | Missense | 3/4 | - | 2 |
8-103664005-A-G | c.555T>C | p.F185= | Synonymous | 3/4 | - | 2 |
8-103664009-G-T | c.551C>A | p.S184Y | Missense | 3/4 | - | 7 |
8-103664013-T-A | c.547A>T | p.N183Y | Missense | 3/4 | - | 1 |
8-103664016-T-C | c.544A>G | p.N182D | Missense | 3/4 | - | 1 |
8-103664017-C-T | c.543G>A | p.Q181= | Synonymous | 3/4 | - | 1 |
8-103664026-G-A | c.534C>T | p.L178= | Synonymous | 3/4 | - | 2 |
8-103664028-G-T | c.532C>A | p.L178I | Missense | 3/4 | - | 1 |
8-103664029-G-A | c.531C>T | p.I177= | Synonymous | 3/4 | - | 2 |
8-103664029-G-T | c.531C>A | p.I177= | Synonymous | 3/4 | - | 3 |
8-103664033-C-A | c.527G>T | p.S176I | Missense | 3/4 | - | 1 |
8-103664035-G-A | c.525C>T | p.A175= | Synonymous | 3/4 | - | 1 |
8-103664035-G-C | c.525C>G | p.A175= | Synonymous | 3/4 | - | 1 |
8-103664035-G-T | c.525C>A | p.A175= | Synonymous | 3/4 | - | 1 |
8-103664046-T-C | c.514A>G | p.M172V | Missense | 3/4 | - | 1 |
8-103664054-G-C | c.506C>G | p.T169S | Missense | 3/4 | - | 3 |
8-103664055-T-A | c.505A>T | p.T169S | Missense | 3/4 | - | 1 |
8-103664057-T-A | c.503A>T | p.Q168L | Missense | 3/4 | - | 1 |
8-103664063-T-C | c.497A>G | p.N166S | Missense | 3/4 | - | 1 |
8-103664069-A-G | c.491T>C | p.L164P | Missense | 3/4 | - | 2 |
8-103664076-C-A | c.484G>T | p.A162S | Missense | 3/4 | - | 1 |
8-103664076-C-T | c.484G>A | p.A162T | Missense | 3/4 | - | 1 |
8-103664082-C-A | c.478G>T | p.A160S | Missense | 3/4 | - | 3 |
8-103664091-G-A | c.469C>T | p.R157C | Missense | 3/4 | - | 4 |
8-103664099-CTTG-C | c.458_460del | p.T153del | InFrameDeletion | 3/4 | - | 1 |
8-103664105-G-A | c.455C>T | p.A152V | Missense | 3/4 | - | 1 |
8-103664118-G-A | c.442C>T | p.P148S | Missense | 3/4 | - | 3 |
8-103664119-G-A | c.441C>T | p.L147= | Synonymous | 3/4 | - | 2 |
8-103664119-G-C | c.441C>G | p.L147= | Synonymous | 3/4 | - | 1 |
8-103664119-G-T | c.441C>A | p.L147= | Synonymous | 3/4 | - | 1 |
8-103664124-T-C | c.436A>G | p.K146E | Missense | 3/4 | - | 1 |
8-103664135-A-G | c.425T>C | p.V142A | Missense | 3/4 | - | 1 |
8-103664139-G-C | c.421C>G | p.P141A | Missense | 3/4 | - | 1 |
8-103664139-G-T | c.421C>A | p.P141T | Missense | 3/4 | - | 1 |
8-103664140-G-A | c.420C>T | p.S140= | Synonymous | 3/4 | - | 1 |
8-103664147-T-C | c.413A>G | p.E138G | Missense | 3/4 | - | 1 |
8-103664148-C-T | c.412G>A | p.E138K | Missense | 3/4 | - | 2 |
8-103664151-C-T | c.409G>A | p.E137K | Missense | 3/4 | - | 2 |
8-103664160-A-G | c.400T>C | p.F134L | Missense | 3/4 | - | 1 |
8-103664162-G-A | c.398C>T | p.P133L | Missense | 3/4 | - | 1 |
8-103664164-T-A | c.396A>T | p.A132= | Synonymous | 3/4 | - | 1 |
8-103664164-T-C | c.396A>G | p.A132= | Synonymous | 3/4 | - | 1 |
8-103664164-T-G | c.396A>C | p.A132= | Synonymous | 3/4 | - | 1 |
8-103664166-C-T | c.394G>A | p.A132T | Missense | 3/4 | - | 1 |
8-103664170-A-C | c.390T>G | p.I130M | Missense | 3/4 | - | 1 |
8-103664170-A-G | c.390T>C | p.I130= | Synonymous | 3/4 | - | 1 |
8-103664170-A-T | c.390T>A | p.I130= | Synonymous | 3/4 | - | 1 |
8-103664174-T-A | c.386A>T | p.H129L | Missense | 3/4 | - | 1 |
8-103664175-G-A | c.385C>T | p.H129Y | Missense | 3/4 | - | 4 |
8-103664176-A-C | c.384T>G | p.P128= | Synonymous | 3/4 | - | 1 |
8-103664176-A-G | c.384T>C | p.P128= | Synonymous | 3/4 | - | 1 |
8-103664176-A-T | c.384T>A | p.P128= | Synonymous | 3/4 | - | 1 |
8-103664177-G-A | c.383C>T | p.P128L | Missense | 3/4 | - | 1 |
8-103664176-AG-A | c.383del | p.P128Lfs*28 | Frameshift | 3/4 | - | 1 |
8-103664184-C-T | c.376G>A | p.A126T | Missense | 3/4 | - | 1 |
8-103664187-T-C | c.373A>G | p.T125A | Missense | 3/4 | - | 5 |
8-103664192-G-A | c.368C>T | p.S123L | Missense | 3/4 | - | 1 |
8-103664196-G-A | c.364C>T | p.L122F | Missense | 3/4 | - | 1 |
8-103664202-T-A | c.358A>T | p.K120* | Nonsense | 3/4 | - | 1 |
8-103664203-G-A | c.357C>T | p.F119= | Synonymous | 3/4 | - | 1 |
8-103664207-T-A | c.353A>T | p.H118L | Missense | 3/4 | - | 2 |
8-103664208-G-A | c.352C>T | p.H118Y | Missense | 3/4 | - | 1 |
8-103664213-G-C | c.347C>G | p.T116S | Missense | 3/4 | - | 1 |
8-103664213-G-T | c.347C>A | p.T116N | Missense | 3/4 | - | 1 |
8-103664214-T-A | c.346A>T | p.T116S | Missense | 3/4 | - | 1 |
8-103664216-G-T | c.344C>A | p.S115Y | Missense | 3/4 | - | 1 |
8-103664217-A-C | c.343T>G | p.S115A | Missense | 3/4 | - | 4 |
8-103664221-C-T | c.339G>A | p.A113= | Synonymous | 3/4 | - | 1 |
8-103664222-G-A | c.338C>T | p.A113V | Missense | 3/4 | - | 2 |
8-103664223-C-A | c.337G>T | p.A113S | Missense | 3/4 | - | 1 |
8-103664235-G-C | c.325C>G | p.L109V | Missense | 3/4 | - | 1 |
8-103664243-AC-GT | c.316_317inv | p.V106T | Missense | 3/4 | - | 1 |
8-103664248-A-G | c.312T>C | p.S104= | Synonymous | 3/4 | - | 1 |
8-103664250-A-C | c.310T>G | p.S104A | Missense | 3/4 | - | 1 |
8-103664250-A-G | c.310T>C | p.S104P | Missense | 3/4 | - | 1 |
8-103664252-G-T | c.308C>A | p.P103H | Missense | 3/4 | - | 2 |
8-103664253-G-A | c.307C>T | p.P103S | Missense | 3/4 | - | 1 |
8-103664256-C-T | c.304G>A | p.E102K | Missense | 3/4 | - | 1 |
8-103664264-G-A | c.296C>T | p.S99F | Missense | 3/4 | - | 1 |
8-103664268-G-A | c.292C>T | p.P98S | Missense | 3/4 | - | 1 |
8-103664269-A-G | c.291T>C | p.S97= | Synonymous | 3/4 | - | 1 |
8-103664270-C-G | c.290G>C | p.S97T | Missense | 3/4 | - | 1 |
8-103664270-C-T | c.290G>A | p.S97N | Missense | 3/4 | - | 1 |
8-103664276-G-A | c.284C>T | p.P95L | Missense | 3/4 | - | 1 |
8-103664276-G-T | c.284C>A | p.P95H | Missense | 3/4 | - | 2 |
8-103664280-G-C | c.280C>G | p.P94A | Missense | 3/4 | - | 3 |
8-103664283-T-C | c.277A>G | p.T93A | Missense | 3/4 | - | 1 |
8-103664284-C-G | c.276G>C | p.L92F | Missense | 3/4 | - | 1 |
8-103664288-CA-GC | c.271_272delinsGC | p.C91A | Missense | 3/4 | - | 1 |
8-103664310-T-TA | c.271-22dup | - | IntronicInsertion | - | 2/3 | 4 |
8-103664373-T-C | c.270+19A>G | - | IntronicSNV | - | 2/3 | 1 |
8-103664395-TGC-ATG | c.265_267delinsCAT | p.A89H | Missense | 2/4 | - | 1 |
8-103664413-A-C | c.249T>G | p.D83E | Missense | 2/4 | - | 1 |
8-103664413-A-T | c.249T>A | p.D83E | Missense | 2/4 | - | 1 |
8-103664417-G-A | c.245C>T | p.P82L | Missense | 2/4 | - | 1 |
8-103664417-G-C | c.245C>G | p.P82R | Missense | 2/4 | - | 2 |
8-103664421-T-A | c.241A>T | p.T81S | Missense | 2/4 | - | 1 |
8-103664422-T-C | c.240A>G | p.G80= | Synonymous | 2/4 | - | 1 |
8-103664423-C-A | c.239G>T | p.G80V | Missense | 2/4 | - | 1 |
8-103664424-C-G | c.238G>C | p.G80R | Missense | 2/4 | - | 1 |
8-103664424-C-T | c.238G>A | p.G80R | Missense | 2/4 | - | 1 |
8-103664427-G-A | c.235C>T | p.P79S | Missense | 2/4 | - | 1 |
8-103664435-T-A | c.227A>T | p.N76I | Missense | 2/4 | - | 2 |
8-103664437-C-A | c.225G>T | p.E75D | Missense | 2/4 | - | 1 |
8-103664437-C-G | c.225G>C | p.E75D | Missense | 2/4 | - | 1 |
8-103664440-T-C | c.222A>G | p.E74= | Synonymous | 2/4 | - | 1 |
8-103664444-T-TCAGACAGTGGCACGATCACAGCTCACTGTAGCCTC | c.217_218insGAGGCTACAGTGAGCTGTGATCGTGCCACTGTCTG | p.E73Gfs*7 | Frameshift | 2/4 | - | 1 |
8-103664445-C-T | c.217G>A | p.E73K | Missense | 2/4 | - | 1 |
8-103664446-T-C | c.216A>G | p.S72= | Synonymous | 2/4 | - | 1 |
8-103664447-G-A | c.215C>T | p.S72L | Missense | 2/4 | - | 1 |
8-103664462-G-A | c.200C>T | p.P67L | Missense | 2/4 | - | 2 |
8-103664473-TCT-ACA | c.187_189delinsTGT | p.R63C | Missense | 2/4 | - | 1 |
8-103664481-C-G | c.181G>C | p.E61Q | Missense | 2/4 | - | 1 |
8-103664481-C-T | c.181G>A | p.E61K | Missense | 2/4 | - | 1 |
8-103664484-C-G | c.178G>C | p.V60L | Missense | 2/4 | - | 2 |
8-103664484-C-T | c.178G>A | p.V60I | Missense | 2/4 | - | 1 |
8-103664485-GTA-G | c.175_176del | p.Y59Rfs*2 | Frameshift | 2/4 | - | 1 |
8-103664493-T-TA | c.168dup | p.K57* | Nonsense | 2/4 | - | 1 |
8-103664499-C-T | c.163G>A | p.D55N | Missense | 2/4 | - | 1 |
8-103664506-C-T | c.156G>A | p.W52* | Nonsense | 2/4 | - | 1 |
8-103664507-C-T | c.155G>A | p.W52* | Nonsense | 2/4 | - | 1 |
8-103664511-T-A | c.151A>T | p.S51C | Missense | 2/4 | - | 1 |
8-103664512-G-T | c.150C>A | p.C50* | Nonsense | 2/4 | - | 1 |
8-103664522-G-A | c.140C>T | p.S47L | Missense | 2/4 | - | 2 |
8-103664523-A-T | c.139T>A | p.S47T | Missense | 2/4 | - | 1 |
8-103664525-A-G | c.137T>C | p.M46T | Missense | 2/4 | - | 2 |
8-103664525-A-T | c.137T>A | p.M46K | Missense | 2/4 | - | 1 |
8-103664539-A-G | c.123T>C | p.A41= | Synonymous | 2/4 | - | 2 |
8-103664541-C-G | c.121G>C | p.A41P | Missense | 2/4 | - | 1 |
8-103664543-TC-GG | c.118_119delinsCC | p.E40P | Missense | 2/4 | - | 1 |
8-103664550-C-T | c.112G>A | p.D38N | Missense | 2/4 | - | 2 |
8-103664557-C-T | c.105G>A | p.E35= | Synonymous | 2/4 | - | 1 |
8-103664557-TCTC-T | c.103_105del | p.E35del | InFrameDeletion | 2/4 | - | 1 |
8-103664560-T-G | c.102A>C | p.A34= | Synonymous | 2/4 | - | 1 |
8-103664562-C-A | c.100G>T | p.A34S | Missense | 2/4 | - | 1 |
8-103664563-A-C | c.99T>G | p.T33= | Synonymous | 2/4 | - | 1 |
8-103664577-A-G | c.85T>C | p.S29P | Missense | 2/4 | - | 1 |
8-103664582-A-G | c.80T>C | p.M27T | Missense | 2/4 | - | 4 |
8-103664595-G-C | c.67C>G | p.P23A | Missense | 2/4 | - | 1 |
8-103664601-C-G | c.61G>C | p.E21Q | Missense | 2/4 | - | 2 |
8-103664603-G-C | c.59C>G | p.S20C | Missense | 2/4 | - | 1 |
8-103664615-A-G | c.47T>C | p.M16T | Missense | 2/4 | - | 1 |
8-103664617-T-C | c.45A>G | p.R15= | Synonymous | 2/4 | - | 1 |
8-103664618-C-A | c.44G>T | p.R15I | Missense | 2/4 | - | 4 |
8-103664619-T-A | c.43A>T | p.R15* | Nonsense | 2/4 | - | 1 |
8-103664623-C-G | c.39G>C | p.E13D | Missense | 2/4 | - | 2 |
8-103664623-C-T | c.39G>A | p.E13= | Synonymous | 2/4 | - | 1 |
8-103664699-T-A | c.37-74A>T | - | IntronicSNV | - | 1/3 | 1 |
8-103665513-C-A | c.37-888G>T | - | IntronicSNV | - | 1/3 | 2 |
8-103665513-C-T | c.37-888G>A | - | IntronicSNV | - | 1/3 | 2 |
8-103665753-G-C | c.37-1128C>G | - | IntronicSNV | - | 1/3 | 1 |
8-103666121-A-G | c.37-1496T>C | - | IntronicSNV | - | 1/3 | 1 |
8-103666126-C-G | c.37-1501G>C | - | IntronicSNV | - | 1/3 | 1 |
8-103666127-G-A | c.37-1502C>T | - | IntronicSNV | - | 1/3 | 1 |
8-103666172-T-A | c.37-1547A>T | - | IntronicSNV | - | 1/3 | 1 |
8-103666172-T-C | c.37-1547A>G | - | IntronicSNV | - | 1/3 | 1 |
8-103666172-T-G | c.37-1547A>C | - | IntronicSNV | - | 1/3 | 1 |
8-103666270-C-A | c.36+1524G>T | - | IntronicSNV | - | 1/3 | 1 |
8-103666376-A-C | c.36+1418T>G | - | IntronicSNV | - | 1/3 | 1 |
8-103666501-C-A | c.36+1293G>T | - | IntronicSNV | - | 1/3 | 1 |
8-103667612-G-C | c.36+182C>G | - | IntronicSNV | - | 1/3 | 1 |
8-103667794-CGC-AAA | c.34_36delinsTTT | p.A12F | Missense | 1/4 | - | 1 |
8-103667795-G-A | c.35C>T | p.A12V | Missense | 1/4 | - | 1 |
8-103667796-C-G | c.34G>C | p.A12P | Missense | 1/4 | - | 1 |
8-103667796-C-T | c.34G>A | p.A12T | Missense | 1/4 | - | 2 |
8-103667800-C-A | c.30G>T | p.Q10H | Missense | 1/4 | - | 3 |
8-103667800-C-G | c.30G>C | p.Q10H | Missense | 1/4 | - | 4 |
8-103667805-G-A | c.25C>T | p.Q9* | Nonsense | 1/4 | - | 1 |
8-103667808-G-C | c.22C>G | p.L8V | Missense | 1/4 | - | 3 |
8-103667813-G-A | c.17C>T | p.A6V | Missense | 1/4 | - | 2 |
8-103667822-T-C | c.8A>G | p.N3S | Missense | 1/4 | - | 1 |
8-103667826-G-C | c.4C>G | p.L2V | Missense | 1/4 | - | 1 |