Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-11849667-C-T | c.*1070G>A | - | 3-UTRSNV | 12/12 | - | 1 |
1-11850083-T-C | c.*654A>G | - | 3-UTRSNV | 12/12 | - | 1 |
1-11850153-G-A | c.*584C>T | - | 3-UTRSNV | 12/12 | - | 1 |
1-11850365-T-A | c.*372A>T | - | 3-UTRSNV | 12/12 | - | 36 |
1-11850365-T-G | c.*372A>C | - | 3-UTRSNV | 12/12 | - | 36 |
1-11850434-C-T | c.*303G>A | - | 3-UTRSNV | 12/12 | - | 3 |
1-11850696-G-A | c.*41C>T | - | 3-UTRSNV | 12/12 | - | 2 |
1-11850738-C-G | c.1970G>C | p.*657Sext*50 | Missense | 12/12 | - | 4 |
1-11850739-A-G | c.1969T>C | p.*657Rext*50 | Missense | 12/12 | - | 1 |
1-11850750-G-A | c.1958C>T | p.T653M | Missense | 12/12 | - | 4 |
1-11850803-C-T | c.1905G>A | p.V635= | Synonymous | 12/12 | - | 2 |
1-11850825-A-G | c.1883T>C | p.L628P | Missense | 12/12 | - | 2 |
1-11850825-AG-GT | c.1882_1883delinsAC | p.L628T | Missense | 12/12 | - | 1 |
1-11850862-A-C | c.1846T>G | p.Y616D | Missense | 12/12 | - | 1 |
1-11850867-T-C | c.1841A>G | p.D614G | Missense | 12/12 | - | 2 |
1-11850885-A-ATGTAC | c.1822_1823insGTACA | p.I608Sfs*56 | Frameshift | 12/12 | - | 1 |
1-11850892-G-A | c.1816C>T | p.R606C | Missense | 12/12 | - | 1 |
1-11850900-G-A | c.1808C>T | p.S603F | Missense | 12/12 | - | 1 |
1-11850900-G-C | c.1808C>G | p.S603C | Missense | 12/12 | - | 1 |
1-11850900-GGACTCCTCCTCA-G | c.1797_1808del | p.E600_S603del | InFrameDeletion | 12/12 | - | 1 |
1-11850904-C-T | c.1804G>A | p.E602K | Missense | 12/12 | - | 1 |
1-11850915-A-G | c.1793T>C | p.L598P | Missense | 12/12 | - | 3 |
1-11850927-C-T | c.1781G>A | p.R594Q | Missense | 12/12 | - | 95 |
1-11850928-CG-C | c.1780del | p.R594Gfs*68 | Frameshift | 12/12 | - | 1 |
1-11850928-GCT-G | c.1778_1779del | p.E593Afs*7 | Frameshift | 12/12 | - | 1 |
1-11850939-AG-A | c.1768del | p.L590Cfs*72 | Frameshift | 12/12 | - | 1 |
1-11850950-C-A | c.1758G>T | p.E586D | Missense | 12/12 | - | 1 |
1-11850950-C-T | c.1758G>A | p.E586= | Synonymous | 12/12 | - | 1 |
1-11850952-C-T | c.1756G>A | p.E586K | Missense | 12/12 | - | 1 |
1-11850973-C-T | c.1753-18G>A | - | IntronicSNV | - | 11/11 | 1 |
1-11850981-C-T | c.1753-26G>A | - | IntronicSNV | - | 11/11 | 1 |
1-11851003-G-C | c.1753-48C>G | - | IntronicSNV | - | 11/11 | 6 |
1-11851185-C-T | c.1752+79G>A | - | IntronicSNV | - | 11/11 | 2 |
1-11851263-C-A | c.1752+1G>T | - | IntronicSNV | - | 11/11 | 1 |
1-11851266-T-A | c.1750A>T | p.K584* | Nonsense | 11/12 | - | 1 |
1-11851273-C-T | c.1743G>A | p.M581I | Missense | 11/12 | - | 2 |
1-11851292-A-C | c.1724T>G | p.V575G | Missense | 11/12 | - | 3 |
1-11851295-A-C | c.1721T>G | p.V574G | Missense | 11/12 | - | 1 |
1-11851298-GT-CA | c.1717_1718delinsTG | p.T573C | Missense | 11/12 | - | 1 |
1-11851301-G-A | c.1715C>T | p.P572L | Missense | 11/12 | - | 4 |
1-11851317-G-A | c.1699C>T | p.R567* | Nonsense | 11/12 | - | 2 |
1-11851319-C-T | c.1697G>A | p.G566E | Missense | 11/12 | - | 2 |
1-11851333-C-T | c.1683G>A | p.W561* | Nonsense | 11/12 | - | 2 |
1-11851350-G-C | c.1666C>G | p.P556A | Missense | 11/12 | - | 1 |
1-11851354-CAG-AAA | c.1660_1662delinsTTT | p.L554F | Missense | 11/12 | - | 6 |
1-11851370-GT-TC | c.1645_1646delinsGA | p.T549D | Missense | 11/12 | - | 1 |
1-11851371-T-C | c.1645A>G | p.T549A | Missense | 11/12 | - | 1 |
1-11851375-G-A | c.1641C>T | p.N547= | Synonymous | 11/12 | - | 1 |
1-11852110-C-T | c.1632+225G>A | - | IntronicSNV | - | 10/11 | 2 |
1-11852300-C-G | c.1632+35G>C | - | IntronicSNV | - | 10/11 | 32 |
1-11852300-C-T | c.1632+35G>A | - | IntronicSNV | - | 10/11 | 32 |
1-11852333-A-C | c.1632+2T>G | - | IntronicSNV | - | 10/11 | 1 |
1-11852333-A-G | c.1632+2T>C | - | IntronicSNV | - | 10/11 | 1 |
1-11852336-T-C | c.1631A>G | p.K544R | Missense | 10/12 | - | 1 |
1-11852342-T-C | c.1625A>G | p.N542S | Missense | 10/12 | - | 1 |
1-11852342-T-G | c.1625A>C | p.N542T | Missense | 10/12 | - | 2 |
1-11852361-C-A | c.1606G>T | p.V536F | Missense | 10/12 | - | 2 |
1-11852363-C-G | c.1604G>C | p.R535P | Missense | 10/12 | - | 1 |
1-11852363-C-T | c.1604G>A | p.R535Q | Missense | 10/12 | - | 2 |
1-11852364-G-A | c.1603C>T | p.R535W | Missense | 10/12 | - | 3 |
1-11852371-G-C | c.1596C>G | p.Y532* | Nonsense | 10/12 | - | 1 |
1-11852374-AC-A | c.1593del | p.K531Nfs*13 | Frameshift | 10/12 | - | 1 |
1-11852378-T-C | c.1589A>G | p.K530R | Missense | 10/12 | - | 1 |
1-11852404-TGT-ACA | c.1561_1563inv | p.T521C | Missense | 10/12 | - | 6 |
1-11852411-C-A | c.1556G>T | p.R519L | Missense | 10/12 | - | 1 |
1-11852411-C-T | c.1556G>A | p.R519H | Missense | 10/12 | - | 1 |
1-11852412-G-A | c.1555C>T | p.R519C | Missense | 10/12 | - | 4 |
1-11852417-G-A | c.1550C>T | p.T517I | Missense | 10/12 | - | 1 |
1-11852425-C-T | c.1542G>A | p.E514= | Synonymous | 10/12 | - | 1 |
1-11852424-ACT-A | c.1541_1542del | p.E514Vfs*23 | Frameshift | 10/12 | - | 1 |
1-11852427-C-CT | c.1539dup | p.E514Rfs*24 | Frameshift | 10/12 | - | 2 |
1-11852429-A-G | c.1538T>C | p.L513S | Missense | 10/12 | - | 1 |
1-11852432-T-C | c.1535A>G | p.Y512C | Missense | 10/12 | - | 3 |
1-11852432-T-TCC | c.1534_1535insGG | p.Y512Wfs*3 | Frameshift | 10/12 | - | 1 |
1-11852516-C-T | c.1531-80G>A | - | IntronicSNV | - | 9/11 | 4 |
1-11853962-A-G | c.1530+2T>C | - | IntronicSNV | - | 9/11 | 1 |
1-11853964-C-T | c.1530G>A | p.K510= | Synonymous | 9/12 | - | 6 |
1-11853965-T-G | c.1529A>C | p.K510T | Missense | 9/12 | - | 1 |
1-11853966-TTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTC-T | c.1470_1528del | p.K491Gfs*27 | InFrameDeletion | 9/12 | - | 1 |
1-11853978-A-C | c.1516T>G | p.Y506D | Missense | 9/12 | - | 3 |
1-11853984-C-T | c.1510G>A | p.G504R | Missense | 9/12 | - | 1 |
1-11853993-C-A | c.1501G>T | p.G501C | Missense | 9/12 | - | 1 |
1-11854009-G-C | c.1485C>G | p.D495E | Missense | 9/12 | - | 1 |
1-11854009-G-T | c.1485C>A | p.D495E | Missense | 9/12 | - | 1 |
1-11854042-T-A | c.1452A>T | p.S484= | Synonymous | 9/12 | - | 1 |
1-11854042-T-C | c.1452A>G | p.S484= | Synonymous | 9/12 | - | 1 |
1-11854042-T-G | c.1452A>C | p.S484= | Synonymous | 9/12 | - | 1 |
1-11854052-G-T | c.1442C>A | p.T481N | Missense | 9/12 | - | 1 |
1-11854074-C-A | c.1420G>T | p.V474L | Missense | 9/12 | - | 1 |
1-11854076-C-A | c.1418G>T | p.R473L | Missense | 9/12 | - | 1 |
1-11854076-C-T | c.1418G>A | p.R473Q | Missense | 9/12 | - | 1 |
1-11854077-G-A | c.1417C>T | p.R473W | Missense | 9/12 | - | 1 |
1-11854085-T-A | c.1409A>T | p.E470V | Missense | 9/12 | - | 2 |
1-11854085-T-C | c.1409A>G | p.E470G | Missense | 9/12 | - | 2 |
1-11854085-TC-AG | c.1408_1409delinsCT | p.E470L | Missense | 9/12 | - | 1 |
1-11854085-T-G | c.1409A>C | p.E470A | Missense | 9/12 | - | 3 |
1-11854086-C-A | c.1408G>T | p.E470* | Nonsense | 9/12 | - | 4 |
1-11854086-C-G | c.1408G>C | p.E470Q | Missense | 9/12 | - | 1 |
1-11854089-C-T | c.1405G>A | p.E469K | Missense | 9/12 | - | 5 |
1-11854100-C-A | c.1394G>T | p.S465I | Missense | 9/12 | - | 1 |
1-11854105-C-A | c.1389G>T | p.E463D | Missense | 9/12 | - | 2 |
1-11854105-C-G | c.1389G>C | p.E463D | Missense | 9/12 | - | 2 |
1-11854105-CTC-GTT | c.1387_1389delinsAAC | p.E463N | Missense | 9/12 | - | 1 |
1-11854107-C-G | c.1387G>C | p.E463Q | Missense | 9/12 | - | 2 |
1-11854111-C-T | c.1383G>A | p.A461= | Synonymous | 9/12 | - | 1 |
1-11854113-C-A | c.1381G>T | p.A461S | Missense | 9/12 | - | 1 |
1-11854124-T-A | c.1370A>T | p.D457V | Missense | 9/12 | - | 1 |
1-11854130-C-A | c.1364G>T | p.W455L | Missense | 9/12 | - | 1 |
1-11854139-C-A | c.1355G>T | p.C452F | Missense | 9/12 | - | 1 |
1-11854139-CA-GT | c.1354_1355delinsAC | p.C452T | Missense | 9/12 | - | 5 |
1-11854414-C-T | c.1347+1G>A | - | IntronicSNV | - | 8/11 | 1 |
1-11854442-C-A | c.1320G>T | p.S440= | Synonymous | 8/12 | - | 1 |
1-11854442-C-G | c.1320G>C | p.S440= | Synonymous | 8/12 | - | 1 |
1-11854442-C-T | c.1320G>A | p.S440= | Synonymous | 8/12 | - | 1 |
1-11854443-G-A | c.1319C>T | p.S440L | Missense | 8/12 | - | 3 |
1-11854445-GAG-TTA | c.1315_1317delinsTAA | p.L439* | Nonsense | 8/12 | - | 1 |
1-11854446-A-G | c.1316T>C | p.L439P | Missense | 8/12 | - | 1 |
1-11854446-AG-CA | c.1315_1316delinsTG | p.L439C | Missense | 8/12 | - | 1 |
1-11854457-G-A | c.1305C>T | p.F435= | Synonymous | 8/12 | - | 12 |
1-11854458-A-G | c.1304T>C | p.F435S | Missense | 8/12 | - | 1 |
1-11854464-T-G | c.1298A>C | p.E433A | Missense | 8/12 | - | 63 |
1-11854473-C-A | c.1289G>T | p.S430I | Missense | 8/12 | - | 1 |
1-11854476-T-A | c.1286A>T | p.E429V | Missense | 8/12 | - | 2 |
1-11854476-T-C | c.1286A>G | p.E429G | Missense | 8/12 | - | 1 |
1-11854476-T-G | c.1286A>C | p.E429A | Missense | 8/12 | - | 801 |
1-11854479-T-G | c.1283A>C | p.E428A | Missense | 8/12 | - | 1 |
1-11854498-C-G | c.1264G>C | p.G422R | Missense | 8/12 | - | 2 |
1-11854498-C-T | c.1264G>A | p.G422R | Missense | 8/12 | - | 2 |
1-11854494-T-TC | c.1267dup | p.E423Gfs*6 | Frameshift | 8/12 | - | 1 |
1-11854500-C-CTG | c.1261_1262insCA | p.W421Sfs*6 | Frameshift | 8/12 | - | 1 |
1-11854500-C-G | c.1262G>C | p.W421S | Missense | 8/12 | - | 3 |
1-11854503-A-G | c.1259T>C | p.M420T | Missense | 8/12 | - | 1 |
1-11854526-G-A | c.1236C>T | p.S412= | Synonymous | 8/12 | - | 2 |
1-11854558-C-G | c.1204G>C | p.D402H | Missense | 8/12 | - | 1 |
1-11854568-CCC-ACA | c.1192_1194delinsTGT | p.G398C | Missense | 8/12 | - | 1 |
1-11854569-C-G | c.1193G>C | p.G398A | Missense | 8/12 | - | 1 |
1-11854594-C-G | c.1168G>C | p.G390R | Missense | 8/12 | - | 1 |
1-11854671-C-A | c.1167-76G>T | - | IntronicSNV | - | 7/11 | 9 |
1-11854755-G-A | c.1166+31C>T | - | IntronicSNV | - | 7/11 | 5 |
1-11854785-C-T | c.1166+1G>A | - | IntronicSNV | - | 7/11 | 1 |
1-11854786-C-T | c.1166G>A | p.W389* | Nonsense | 7/12 | - | 3 |
1-11854790-G-A | c.1162C>T | p.R388C | Missense | 7/12 | - | 1 |
1-11854792-C-T | c.1160G>A | p.G387D | Missense | 7/12 | - | 2 |
1-11854796-T-TAGACA | c.1155_1156insTGTCT | p.N386Cfs*17 | Frameshift | 7/12 | - | 1 |
1-11854800-GAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCC-G | c.1100_1151del | p.W367Sfs*17 | Frameshift | 7/12 | - | 1 |
1-11854810-C-T | c.1142G>A | p.W381* | Nonsense | 7/12 | - | 1 |
1-11854811-A-G | c.1141T>C | p.W381R | Missense | 7/12 | - | 3 |
1-11854811-A-T | c.1141T>A | p.W381R | Missense | 7/12 | - | 2 |
1-11854822-C-T | c.1130G>A | p.R377H | Missense | 7/12 | - | 5 |
1-11854823-G-A | c.1129C>T | p.R377C | Missense | 7/12 | - | 4 |
1-11854830-G-C | c.1122C>G | p.Y374* | Nonsense | 7/12 | - | 1 |
1-11854838-T-C | c.1114A>G | p.K372E | Missense | 7/12 | - | 3 |
1-11854836-CT-C | c.1115del | p.K372Rfs*29 | Frameshift | 7/12 | - | 1 |
1-11854849-G-C | c.1103C>G | p.A368G | Missense | 7/12 | - | 2 |
1-11854849-GC-AG | c.1102_1103delinsCT | p.A368L | Missense | 7/12 | - | 2 |
1-11854849-G-T | c.1103C>A | p.A368D | Missense | 7/12 | - | 1 |
1-11854862-G-A | c.1090C>T | p.P364S | Missense | 7/12 | - | 1 |
1-11854864-C-T | c.1088G>A | p.R363H | Missense | 7/12 | - | 3 |
1-11854865-G-A | c.1087C>T | p.R363C | Missense | 7/12 | - | 1 |
1-11854866-TAC-AAA | c.1084_1086delinsTTT | p.V362F | Missense | 7/12 | - | 1 |
1-11854880-G-A | c.1072C>T | p.R358* | Nonsense | 7/12 | - | 2 |
1-11854882-C-T | c.1070G>A | p.R357H | Missense | 7/12 | - | 2 |
1-11854883-G-A | c.1069C>T | p.R357C | Missense | 7/12 | - | 2 |
1-11854892-G-A | c.1060C>T | p.H354Y | Missense | 7/12 | - | 3 |
1-11854894-G-A | c.1058C>T | p.A353V | Missense | 7/12 | - | 1 |
1-11854896-G-A | c.1056C>T | p.S352= | Synonymous | 7/12 | - | 11 |
1-11854910-G-A | c.1042C>T | p.P348S | Missense | 7/12 | - | 2 |
1-11854913-G-A | c.1039C>T | p.L347= | Synonymous | 7/12 | - | 1 |
1-11854919-G-A | c.1033C>T | p.R345C | Missense | 7/12 | - | 2 |
1-11855155-C-A | c.1031G>T | p.R344M | Missense | 6/12 | - | 1 |
1-11855171-A-C | c.1015T>G | p.W339G | Missense | 6/12 | - | 4 |
1-11855173-A-G | c.1013T>C | p.M338T | Missense | 6/12 | - | 3 |
1-11855182-C-T | c.1004G>A | p.R335H | Missense | 6/12 | - | 3 |
1-11855183-G-A | c.1003C>T | p.R335C | Missense | 6/12 | - | 3 |
1-11855188-A-G | c.998T>C | p.L333P | Missense | 6/12 | - | 2 |
1-11855189-G-A | c.997C>T | p.L333= | Synonymous | 6/12 | - | 1 |
1-11855191-A-G | c.995T>C | p.V332A | Missense | 6/12 | - | 1 |
1-11855200-G-A | c.986C>T | p.T329I | Missense | 6/12 | - | 1 |
1-11855201-T-A | c.985A>T | p.T329S | Missense | 6/12 | - | 1 |
1-11855213-G-A | c.973C>T | p.R325C | Missense | 6/12 | - | 4 |
1-11855215-T-C | c.971A>G | p.N324S | Missense | 6/12 | - | 3 |
1-11855218-A-G | c.968T>C | p.L323P | Missense | 6/12 | - | 1 |
1-11855219-G-A | c.967C>T | p.L323F | Missense | 6/12 | - | 2 |
1-11855231-G-A | c.955C>T | p.H319Y | Missense | 6/12 | - | 1 |
1-11855259-AA-TT | c.926_927inv | p.L309Q | Missense | 6/12 | - | 1 |
1-11855260-AG-GC | c.925_926delinsGC | p.L309A | Missense | 6/12 | - | 1 |
1-11855270-A-G | c.916T>C | p.C306R | Missense | 6/12 | - | 1 |
1-11855279-C-T | c.907G>A | p.V303M | Missense | 6/12 | - | 1 |
1-11855293-CC-GT | c.892_893delinsAC | p.G298T | Missense | 6/12 | - | 2 |
1-11855293-C-G | c.893G>C | p.G298A | Missense | 6/12 | - | 1 |
1-11855295-A-T | c.891T>A | p.Y297* | Nonsense | 6/12 | - | 1 |
1-11855315-C-T | c.871G>A | p.D291N | Missense | 6/12 | - | 2 |
1-11855316-G-A | c.870C>T | p.N290= | Synonymous | 6/12 | - | 1 |
1-11855326-A-G | c.860T>C | p.I287T | Missense | 6/12 | - | 1 |
1-11855333-C-G | c.853G>C | p.E285Q | Missense | 6/12 | - | 1 |
1-11855333-C-T | c.853G>A | p.E285K | Missense | 6/12 | - | 1 |
1-11855389-C-T | c.797G>A | p.R266Q | Missense | 6/12 | - | 1 |
1-11855398-T-G | c.788A>C | p.H263P | Missense | 6/12 | - | 1 |
1-11855405-C-A | c.781G>T | p.G261C | Missense | 6/12 | - | 1 |
1-11855867-G-A | c.780+396C>T | - | IntronicSNV | - | 5/11 | 6 |
1-11856262-C-A | c.780+1G>T | - | IntronicSNV | - | 5/11 | 1 |
1-11856274-A-C | c.769T>G | p.F257V | Missense | 5/12 | - | 2 |
1-11856276-A-T | c.767T>A | p.I256N | Missense | 5/12 | - | 3 |
1-11856279-C-A | c.764G>T | p.G255V | Missense | 5/12 | - | 2 |
1-11856283-G-A | c.760C>T | p.P254S | Missense | 5/12 | - | 2 |
1-11856285-A-C | c.758T>G | p.V253G | Missense | 5/12 | - | 1 |
1-11856286-C-A | c.757G>T | p.V253F | Missense | 5/12 | - | 2 |
1-11856286-C-T | c.757G>A | p.V253I | Missense | 5/12 | - | 1 |
1-11856291-G-A | c.752C>T | p.P251L | Missense | 5/12 | - | 1 |
1-11856298-T-C | c.745A>G | p.T249A | Missense | 5/12 | - | 1 |
1-11856301-T-C | c.742A>G | p.I248V | Missense | 5/12 | - | 1 |
1-11856331-G-A | c.712C>T | p.R238C | Missense | 5/12 | - | 1 |
1-11856338-T-A | c.705A>T | p.T235= | Synonymous | 5/12 | - | 1 |
1-11856338-T-C | c.705A>G | p.T235= | Synonymous | 5/12 | - | 1 |
1-11856338-T-G | c.705A>C | p.T235= | Synonymous | 5/12 | - | 1 |
1-11856338-TG-CA | c.704_705inv | p.T235M | Missense | 5/12 | - | 1 |
1-11856343-C-A | c.700G>T | p.D234Y | Missense | 5/12 | - | 1 |
1-11856343-C-T | c.700G>A | p.D234N | Missense | 5/12 | - | 3 |
1-11856345-G-C | c.698C>G | p.A233G | Missense | 5/12 | - | 2 |
1-11856362-C-T | c.681G>A | p.T227= | Synonymous | 5/12 | - | 1 |
1-11856363-G-A | c.680C>T | p.T227M | Missense | 5/12 | - | 4 |
1-11856366-A-G | c.677T>C | p.I226T | Missense | 5/12 | - | 1 |
1-11856363-GTGA-G | c.677_679del | p.I226del | InFrameDeletion | 5/12 | - | 1 |
1-11856370-T-G | c.673A>C | p.I225L | Missense | 5/12 | - | 2 |
1-11856376-C-G | c.667G>C | p.D223H | Missense | 5/12 | - | 1 |
1-11856376-C-T | c.667G>A | p.D223N | Missense | 5/12 | - | 7 |
1-11856377-G-A | c.666C>T | p.A222= | Synonymous | 5/12 | - | 2 |
1-11856377-G-C | c.666C>G | p.A222= | Synonymous | 5/12 | - | 2 |
1-11856377-G-T | c.666C>A | p.A222= | Synonymous | 5/12 | - | 2 |
1-11856378-G-A | c.665C>T | p.A222V | Missense | 5/12 | - | 1461 |
1-11856378-G-T | c.665C>A | p.A222D | Missense | 5/12 | - | 1 |
1-11856382-C-T | c.661G>A | p.G221R | Missense | 5/12 | - | 1 |
1-11856380-TC-T | c.662del | p.G221Efs*20 | Frameshift | 5/12 | - | 2 |
1-11856386-CAGA-C | c.655_657del | p.S219del | InFrameDeletion | 5/12 | - | 1 |
1-11856387-GA-CC | c.655_656delinsGG | p.S219G | Missense | 5/12 | - | 1 |
1-11856391-C-A | c.652G>T | p.V218L | Missense | 5/12 | - | 1 |
1-11856391-C-G | c.652G>C | p.V218L | Missense | 5/12 | - | 1 |
1-11856397-CCTT-C | c.643_645del | p.K215del | InFrameDeletion | 5/12 | - | 2 |
1-11856404-G-GT | c.638dup | p.H213Qfs*20 | Frameshift | 5/12 | - | 1 |
1-11856405-T-C | c.638A>G | p.H213R | Missense | 5/12 | - | 1 |
1-11856417-G-C | c.626C>G | p.A209G | Missense | 5/12 | - | 1 |
1-11856419-CCTCAAAGCTCCCTGCTTCGGG-C | c.604_624del | p.P202_E208del | InFrameDeletion | 5/12 | - | 1 |
1-11856427-T-G | c.616A>C | p.S206R | Missense | 5/12 | - | 1 |
1-11856429-C-T | c.614G>A | p.G205E | Missense | 5/12 | - | 1 |
1-11856430-C-T | c.613G>A | p.G205R | Missense | 5/12 | - | 1 |
1-11856437-G-A | c.606C>T | p.P202= | Synonymous | 5/12 | - | 1 |
1-11856439-G-T | c.604C>A | p.P202T | Missense | 5/12 | - | 2 |
1-11856442-G-A | c.601C>T | p.H201Y | Missense | 5/12 | - | 2 |
1-11856445-C-T | c.598G>A | p.G200S | Missense | 5/12 | - | 1 |
1-11856450-G-A | c.593C>T | p.P198L | Missense | 5/12 | - | 5 |
1-11856456-C-G | c.587G>C | p.G196A | Missense | 5/12 | - | 6 |
1-11856456-C-T | c.587G>A | p.G196D | Missense | 5/12 | - | 2 |
1-11856847-G-A | c.587-391C>T | - | IntronicSNV | - | 4/11 | 2 |
1-11857240-C-A | c.587-784G>T | - | IntronicSNV | - | 4/11 | 1 |
1-11857240-C-G | c.587-784G>C | - | IntronicSNV | - | 4/11 | 1 |
1-11857240-C-T | c.587-784G>A | - | IntronicSNV | - | 4/11 | 1 |
1-11857525-A-T | c.587-1069T>A | - | IntronicSNV | - | 4/11 | 1 |
1-11857526-A-G | c.587-1070T>C | - | IntronicSNV | - | 4/11 | 1 |
1-11857526-A-T | c.587-1070T>A | - | IntronicSNV | - | 4/11 | 1 |
1-11857711-T-C | c.587-1255A>G | - | IntronicSNV | - | 4/11 | 2 |
1-11857788-G-A | c.587-1332C>T | - | IntronicSNV | - | 4/11 | 12 |
1-11857951-T-A | c.587-1495A>T | - | IntronicSNV | - | 4/11 | 10 |
1-11857951-T-C | c.587-1495A>G | - | IntronicSNV | - | 4/11 | 10 |
1-11858036-A-G | c.587-1580T>C | - | IntronicSNV | - | 4/11 | 1 |
1-11858584-T-C | c.586+1685A>G | - | IntronicSNV | - | 4/11 | 1 |
1-11860117-A-G | c.586+152T>C | - | IntronicSNV | - | 4/11 | 2 |
1-11860120-T-C | c.586+149A>G | - | IntronicSNV | - | 4/11 | 12 |
1-11860234-T-C | c.586+35A>G | - | IntronicSNV | - | 4/11 | 1 |
1-11860269-C-T | c.586G>A | p.G196S | Missense | 4/12 | - | 1 |
1-11860271-G-A | c.584C>T | p.A195V | Missense | 4/12 | - | 3 |
1-11860277-C-T | c.578G>A | p.C193Y | Missense | 4/12 | - | 2 |
1-11860302-C-G | c.553G>C | p.E185Q | Missense | 4/12 | - | 1 |
1-11860307-C-T | c.548G>A | p.R183Q | Missense | 4/12 | - | 5 |
1-11860308-G-A | c.547C>T | p.R183* | Nonsense | 4/12 | - | 2 |
1-11860314-G-C | c.541C>G | p.H181D | Missense | 4/12 | - | 2 |
1-11860320-C-T | c.535G>A | p.V179M | Missense | 4/12 | - | 1 |
1-11860325-T-A | c.530A>T | p.D177V | Missense | 4/12 | - | 1 |
1-11860325-T-C | c.530A>G | p.D177G | Missense | 4/12 | - | 1 |
1-11860330-TG-GT | c.524_525delinsAC | p.A175D | Missense | 4/12 | - | 1 |
1-11860332-C-T | c.523G>A | p.A175T | Missense | 4/12 | - | 5 |
1-11860344-C-T | c.511G>A | p.G171S | Missense | 4/12 | - | 1 |
1-11860347-C-A | c.508G>T | p.G170* | Nonsense | 4/12 | - | 1 |
1-11860360-C-A | c.495G>T | p.W165C | Missense | 4/12 | - | 1 |
1-11860360-CC-AT | c.494_495delinsAT | p.W165Y | Missense | 4/12 | - | 1 |
1-11860360-C-G | c.495G>C | p.W165C | Missense | 4/12 | - | 1 |
1-11860361-CA-TG | c.493_494inv | p.W165Q | Missense | 4/12 | - | 1 |
1-11860458-C-G | c.476-79G>C | - | IntronicSNV | - | 3/11 | 6 |
1-11860458-C-T | c.476-79G>A | - | IntronicSNV | - | 3/11 | 6 |
1-11860465-C-G | c.476-86G>C | - | IntronicSNV | - | 3/11 | 2 |
1-11860683-T-C | c.476-304A>G | - | IntronicSNV | - | 3/11 | 7 |
1-11860843-G-A | c.475+375C>T | - | IntronicSNV | - | 3/11 | 6 |
1-11861219-T-A | c.474A>T | p.G158= | Synonymous | 3/12 | - | 1 |
1-11861220-C-G | c.473G>C | p.G158A | Missense | 3/12 | - | 1 |
1-11861223-C-T | c.470G>A | p.R157Q | Missense | 3/12 | - | 4 |
1-11861234-G-C | c.459C>G | p.I153M | Missense | 3/12 | - | 2 |
1-11861241-T-G | c.452A>C | p.K151T | Missense | 3/12 | - | 1 |
1-11861247-C-A | c.446G>T | p.G149V | Missense | 3/12 | - | 3 |
1-11861253-T-G | c.440A>C | p.Q147P | Missense | 3/12 | - | 4 |
1-11861268-A-G | c.425T>C | p.L142P | Missense | 3/12 | - | 1 |
1-11861276-C-A | c.417G>T | p.T139= | Synonymous | 3/12 | - | 1 |
1-11861276-C-G | c.417G>C | p.T139= | Synonymous | 3/12 | - | 1 |
1-11861277-G-A | c.416C>T | p.T139M | Missense | 3/12 | - | 2 |
1-11861283-T-C | c.410A>G | p.E137G | Missense | 3/12 | - | 1 |
1-11861291-GCG-CTT | c.400_402delinsAAG | p.R134K | Missense | 3/12 | - | 11 |
1-11861292-C-G | c.401G>C | p.R134P | Missense | 3/12 | - | 1 |
1-11861293-G-A | c.400C>T | p.R134C | Missense | 3/12 | - | 3 |
1-11861305-A-G | c.388T>C | p.C130R | Missense | 3/12 | - | 1 |
1-11861307-G-T | c.386C>A | p.T129N | Missense | 3/12 | - | 2 |
1-11861314-G-A | c.379C>T | p.H127Y | Missense | 3/12 | - | 3 |
1-11861331-C-G | c.362G>C | p.G121A | Missense | 3/12 | - | 1 |
1-11861332-C-T | c.361G>A | p.G121S | Missense | 3/12 | - | 1 |
1-11861339-G-A | c.354C>T | p.N118= | Synonymous | 3/12 | - | 2 |
1-11861344-C-T | c.349G>A | p.V117M | Missense | 3/12 | - | 1 |
1-11861346-GC-CA | c.346_347delinsTG | p.A116C | Missense | 3/12 | - | 1 |
1-11861347-C-T | c.346G>A | p.A116T | Missense | 3/12 | - | 2 |
1-11861356-C-T | c.337G>A | p.A113T | Missense | 3/12 | - | 4 |
1-11861363-C-A | c.330G>T | p.M110I | Missense | 3/12 | - | 2 |
1-11861363-C-G | c.330G>C | p.M110I | Missense | 3/12 | - | 3 |
1-11861363-C-T | c.330G>A | p.M110I | Missense | 3/12 | - | 2 |
1-11861368-A-C | c.325T>G | p.S109A | Missense | 3/12 | - | 1 |
1-11861370-GA-TT | c.322_323delinsAA | p.S108N | Missense | 3/12 | - | 1 |
1-11861385-GA-CC | c.307_308delinsGG | p.S103G | Missense | 3/12 | - | 1 |
1-11861389-C-A | c.304G>T | p.G102C | Missense | 3/12 | - | 1 |
1-11861389-C-T | c.304G>A | p.G102S | Missense | 3/12 | - | 1 |
1-11861412-GT-CA | c.280_281delinsTG | p.T94C | Missense | 3/12 | - | 1 |
1-11861416-C-T | c.277G>A | p.V93M | Missense | 3/12 | - | 1 |
1-11861441-TGC-ACA | c.250_252delinsTGT | p.A84C | Missense | 3/12 | - | 1 |
1-11861443-C-T | c.250G>A | p.A84T | Missense | 3/12 | - | 1 |
1-11861449-G-A | c.244C>T | p.R82W | Missense | 3/12 | - | 3 |
1-11862047-C-A | c.237-591G>T | - | IntronicSNV | - | 2/11 | 5 |
1-11862047-C-T | c.237-591G>A | - | IntronicSNV | - | 2/11 | 5 |
1-11862163-C-A | c.237-707G>T | - | IntronicSNV | - | 2/11 | 5 |
1-11862214-T-C | c.236+724A>G | - | IntronicSNV | - | 2/11 | 35 |
1-11862332-C-T | c.236+606G>A | - | IntronicSNV | - | 2/11 | 6 |
1-11862778-A-G | c.236+160T>C | - | IntronicSNV | - | 2/11 | 75 |
1-11862937-C-T | c.236+1G>A | - | IntronicSNV | - | 2/11 | 1 |
1-11862941-G-C | c.233C>G | p.S78* | Nonsense | 2/12 | - | 2 |
1-11862959-C-G | c.215G>C | p.G72A | Missense | 2/12 | - | 2 |
1-11862965-GC-AA | c.208_209delinsTT | p.A70F | Missense | 2/12 | - | 1 |
1-11862971-C-T | c.203G>A | p.R68Q | Missense | 2/12 | - | 6 |
1-11862972-G-A | c.202C>T | p.R68* | Nonsense | 2/12 | - | 2 |
1-11862972-G-C | c.202C>G | p.R68G | Missense | 2/12 | - | 2 |
1-11862977-G-A | c.197C>T | p.P66L | Missense | 2/12 | - | 2 |
1-11862997-C-A | c.177G>T | p.W59C | Missense | 2/12 | - | 3 |
1-11862997-C-G | c.177G>C | p.W59C | Missense | 2/12 | - | 1 |
1-11862998-C-G | c.176G>C | p.W59S | Missense | 2/12 | - | 4 |
1-11863007-C-T | c.167G>A | p.G56D | Missense | 2/12 | - | 1 |
1-11863009-A-C | c.165T>G | p.S55= | Synonymous | 2/12 | - | 1 |
1-11863010-GA-AG | c.163_164delinsCT | p.S55L | Missense | 2/12 | - | 1 |
1-11863019-C-T | c.155G>A | p.R52Q | Missense | 2/12 | - | 3 |
1-11863020-G-A | c.154C>T | p.R52* | Nonsense | 2/12 | - | 1 |
1-11863022-C-A | c.152G>T | p.R51L | Missense | 2/12 | - | 1 |
1-11863022-C-G | c.152G>C | p.R51P | Missense | 2/12 | - | 2 |
1-11863022-C-T | c.152G>A | p.R51Q | Missense | 2/12 | - | 2 |
1-11863029-T-C | c.145A>G | p.M49V | Missense | 2/12 | - | 1 |
1-11863030-C-A | c.144G>T | p.K48N | Missense | 2/12 | - | 1 |
1-11863037-C-G | c.137G>C | p.R46P | Missense | 2/12 | - | 1 |
1-11863037-C-T | c.137G>A | p.R46Q | Missense | 2/12 | - | 5 |
1-11863038-G-A | c.136C>T | p.R46W | Missense | 2/12 | - | 8 |
1-11863052-C-T | c.122G>A | p.R41Q | Missense | 2/12 | - | 1 |
1-11863056-C-T | c.118G>A | p.E40K | Missense | 2/12 | - | 1 |
1-11863057-G-A | c.117C>T | p.P39= | Synonymous | 2/12 | - | 20 |
1-11863057-G-C | c.117C>G | p.P39= | Synonymous | 2/12 | - | 21 |
1-11863057-G-T | c.117C>A | p.P39= | Synonymous | 2/12 | - | 1 |
1-11863062-C-T | c.112G>A | p.D38N | Missense | 2/12 | - | 1 |
1-11863063-CAG-AAA | c.109_111delinsTTT | p.L37F | Missense | 2/12 | - | 1 |
1-11863064-AG-GC | c.109_110delinsGC | p.L37A | Missense | 2/12 | - | 1 |
1-11863067-C-G | c.107G>C | p.G36A | Missense | 2/12 | - | 1 |
1-11863070-GG-CC | c.103_104inv | p.P35G | Missense | 2/12 | - | 1 |
1-11863074-T-C | c.100A>G | p.T34A | Missense | 2/12 | - | 5 |
1-11863078-A-G | c.96T>C | p.C32= | Synonymous | 2/12 | - | 1 |
1-11863082-CT-GC | c.91_92delinsGC | p.R31A | Missense | 2/12 | - | 1 |
1-11863086-A-C | c.88T>G | p.S30A | Missense | 2/12 | - | 1 |
1-11863090-ATC-CTT | c.82_84delinsAAG | p.D28K | Missense | 2/12 | - | 1 |
1-11863093-TT-CA | c.80_81delinsTG | p.K27M | Missense | 2/12 | - | 1 |
1-11863094-T-C | c.80A>G | p.K27R | Missense | 2/12 | - | 2 |
1-11863098-A-C | c.76T>G | p.S26A | Missense | 2/12 | - | 1 |
1-11863100-C-T | c.74G>A | p.S25N | Missense | 2/12 | - | 1 |
1-11863107-T-A | c.67A>T | p.S23C | Missense | 2/12 | - | 1 |
1-11863112-C-T | c.62G>A | p.S21N | Missense | 2/12 | - | 1 |
1-11863117-GG-CT | c.56_57delinsAG | p.A19E | Missense | 2/12 | - | 1 |
1-11863118-GC-AA | c.55_56delinsTT | p.A19F | Missense | 2/12 | - | 1 |
1-11863118-G-T | c.56C>A | p.A19D | Missense | 2/12 | - | 1 |
1-11863119-C-T | c.55G>A | p.A19T | Missense | 2/12 | - | 1 |
1-11863132-G-A | c.42C>T | p.C14= | Synonymous | 2/12 | - | 1 |
1-11863135-GGG-CTT | c.37_39delinsAAG | p.P13K | Missense | 2/12 | - | 1 |
1-11863136-GG-AA | c.37_38delinsTT | p.P13F | Missense | 2/12 | - | 1 |
1-11863145-CT-GC | c.28_29delinsGC | p.S10A | Missense | 2/12 | - | 6 |
1-11863145-CT-TC | c.28_29delinsGA | p.S10D | Missense | 2/12 | - | 1 |
1-11863145-CT-TG | c.28_29delinsCA | p.S10H | Missense | 2/12 | - | 1 |
1-11863146-T-A | c.28A>T | p.S10C | Missense | 2/12 | - | 2 |
1-11863146-T-C | c.28A>G | p.S10G | Missense | 2/12 | - | 1 |
1-11863153-TC-T | c.20del | p.G7Efs*43 | Frameshift | 2/12 | - | 1 |
1-11863155-C-T | c.19G>A | p.G7R | Missense | 2/12 | - | 1 |
1-11863158-T-A | c.16A>T | p.R6* | Nonsense | 2/12 | - | 1 |
1-11863589-C-T | c.-13-403G>A | - | IntronicSNV | - | 1/11 | 1 |
1-11863597-G-A | c.-13-411C>T | - | IntronicSNV | - | 1/11 | 1 |
1-11863597-G-C | c.-13-411C>G | - | IntronicSNV | - | 1/11 | 1 |
1-11863597-G-T | c.-13-411C>A | - | IntronicSNV | - | 1/11 | 1 |
1-11863604-G-A | c.-13-418C>T | - | IntronicSNV | - | 1/11 | 1 |
1-11863606-G-A | c.-13-420C>T | - | IntronicSNV | - | 1/11 | 1 |
1-11863608-A-C | c.-13-422T>G | - | IntronicSNV | - | 1/11 | 1 |
1-11863904-C-T | c.-13-718G>A | - | IntronicSNV | - | 1/11 | 2 |
1-11863974-C-A | c.-13-788G>T | - | IntronicSNV | - | 1/11 | 3 |
1-11863974-C-T | c.-13-788G>A | - | IntronicSNV | - | 1/11 | 3 |
1-11864262-T-C | c.-13-1076A>G | - | IntronicSNV | - | 1/11 | 1 |
1-11864378-G-A | c.-13-1192C>T | - | IntronicSNV | - | 1/11 | 1 |
1-11864586-T-C | c.-14+1359A>G | - | intron_variant | - | 1/11 | 9 |
1-11865236-C-T | c.-14+709G>A | - | intron_variant | - | 1/11 | 1 |
1-11865542-A-C | c.-14+403T>G | - | intron_variant | - | 1/11 | 4 |
1-11865804-A-G | c.-14+141T>C | - | intron_variant | - | 1/11 | 14 |
1-11865817-C-A | c.-14+128G>T | - | intron_variant | - | 1/11 | 1 |
1-11865817-C-T | c.-14+128G>A | - | intron_variant | - | 1/11 | 1 |