PGM2L1

PGM2L1 phosphoglucomutase 2 like 1

Annotation transcript: NM_173582.6

569 unique variant annotations were identified in 309 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
11-74041592-A-T c.*6105T>A - 3-UTRSNV 14/14 - 4
11-74042241-A-G c.*5456T>C - 3-UTRSNV 14/14 - 4
11-74042241-A-T c.*5456T>A - 3-UTRSNV 14/14 - 4
11-74042329-T-A c.*5368A>T - 3-UTRSNV 14/14 - 2
11-74042329-T-C c.*5368A>G - 3-UTRSNV 14/14 - 2
11-74042329-T-G c.*5368A>C - 3-UTRSNV 14/14 - 2
11-74042330-G-A c.*5367C>T - 3-UTRSNV 14/14 - 1
11-74042787-A-G c.*4910T>C - 3-UTRSNV 14/14 - 3
11-74043171-A-G c.*4526T>C - 3-UTRSNV 14/14 - 4
11-74043708-G-A c.*3989C>T - 3-UTRSNV 14/14 - 5
11-74044139-G-A c.*3558C>T - 3-UTRSNV 14/14 - 4
11-74044557-C-T c.*3140G>A - 3-UTRSNV 14/14 - 3
11-74044976-C-T c.*2721G>A - 3-UTRSNV 14/14 - 3
11-74045742-A-G c.*1955T>C - 3-UTRSNV 14/14 - 3
11-74046050-G-A c.*1647C>T - 3-UTRSNV 14/14 - 7
11-74046861-C-T c.*836G>A - 3-UTRSNV 14/14 - 4
11-74046975-C-T c.*722G>A - 3-UTRSNV 14/14 - 5
11-74047683-A-C c.*14T>G - 3-UTRSNV 14/14 - 16
11-74047683-A-G c.*14T>C - 3-UTRSNV 14/14 - 16
11-74047683-A-T c.*14T>A - 3-UTRSNV 14/14 - 16
11-74047704-G-A c.1862C>T p.S621F Missense 14/14 - 3
11-74047706-ACG-TCA c.1858_1860delinsTGA p.R620* Nonsense 14/14 - 1
11-74047707-C-T c.1859G>A p.R620H Missense 14/14 - 3
11-74047721-A-G c.1845T>C p.N615= Synonymous 14/14 - 2
11-74047727-A-C c.1839T>G p.S613R Missense 14/14 - 1
11-74047727-A-T c.1839T>A p.S613R Missense 14/14 - 1
11-74047729-T-G c.1837A>C p.S613R Missense 14/14 - 1
11-74047735-G-A c.1831C>T p.Q611* Nonsense 14/14 - 1
11-74047738-G-C c.1828C>G p.L610V Missense 14/14 - 1
11-74047743-T-A c.1823A>T p.N608I Missense 14/14 - 9
11-74047745-C-G c.1821G>C p.E607D Missense 14/14 - 4
11-74047746-T-A c.1820A>T p.E607V Missense 14/14 - 1
11-74047747-C-A c.1819G>T p.E607* Nonsense 14/14 - 2
11-74047747-C-G c.1819G>C p.E607Q Missense 14/14 - 1
11-74047756-C-T c.1810G>A p.A604T Missense 14/14 - 1
11-74047765-G-T c.1801C>A p.L601I Missense 14/14 - 1
11-74047773-A-C c.1793T>G p.L598R Missense 14/14 - 1
11-74047777-C-A c.1789G>T p.E597* Nonsense 14/14 - 3
11-74047785-A-G c.1781T>C p.L594P Missense 14/14 - 1
11-74047787-T-C c.1779A>G p.L593= Synonymous 14/14 - 2
11-74047791-G-C c.1775C>G p.A592G Missense 14/14 - 1
11-74047794-GT-CC c.1771_1772delinsGG p.T591G Missense 14/14 - 1
11-74047804-G-A c.1767-5C>T - IntronicSNV - 13/13 1
11-74049508-C-A c.1766+5G>T - IntronicSNV - 13/13 1
11-74049513-C-T c.1766G>A p.S589N Missense 13/14 - 1
11-74049520-C-A c.1759G>T p.D587Y Missense 13/14 - 1
11-74049525-G-A c.1754C>T p.S585L Missense 13/14 - 1
11-74049526-A-G c.1753T>C p.S585P Missense 13/14 - 1
11-74049527-C-A c.1752G>T p.A584= Synonymous 13/14 - 1
11-74049527-C-G c.1752G>C p.A584= Synonymous 13/14 - 1
11-74049527-C-T c.1752G>A p.A584= Synonymous 13/14 - 2
11-74049528-CG-C c.1751del p.A584Gfs*15 Frameshift 13/14 - 1
11-74049528-G-A c.1751C>T p.A584V Missense 13/14 - 3
11-74049531-C-G c.1748G>C p.C583S Missense 13/14 - 1
11-74049537-T-A c.1742A>T p.E581V Missense 13/14 - 1
11-74049538-C-A c.1741G>T p.E581* Nonsense 13/14 - 1
11-74049559-G-A c.1720C>T p.P574S Missense 13/14 - 2
11-74049567-C-A c.1712G>T p.G571V Missense 13/14 - 4
11-74049567-C-T c.1712G>A p.G571E Missense 13/14 - 1
11-74049569-A-G c.1710T>C p.S570= Synonymous 13/14 - 20
11-74049576-C-A c.1703G>T p.R568L Missense 13/14 - 1
11-74049576-C-G c.1703G>C p.R568P Missense 13/14 - 2
11-74049577-G-A c.1702C>T p.R568W Missense 13/14 - 3
11-74049583-T-C c.1696A>G p.T566A Missense 13/14 - 1
11-74049599-T-C c.1680A>G p.Q560= Synonymous 13/14 - 2
11-74049601-G-A c.1678C>T p.Q560* Nonsense 13/14 - 2
11-74049611-T-A c.1668A>T p.T556= Synonymous 13/14 - 1
11-74049611-T-C c.1668A>G p.T556= Synonymous 13/14 - 3
11-74049611-T-G c.1668A>C p.T556= Synonymous 13/14 - 1
11-74049611-TGT-ACA c.1666_1668inv p.T556C Missense 13/14 - 1
11-74049613-T-C c.1666A>G p.T556A Missense 13/14 - 2
11-74049615-A-T c.1664T>A p.I555N Missense 13/14 - 1
11-74049625-T-G c.1654A>C p.S552R Missense 13/14 - 3
11-74049628-T-G c.1651A>C p.N551H Missense 13/14 - 1
11-74049636-A-G c.1643T>C p.V548A Missense 13/14 - 4
11-74049637-C-A c.1642G>T p.V548L Missense 13/14 - 2
11-74049637-C-G c.1642G>C p.V548L Missense 13/14 - 1
11-74049640-G-T c.1639C>A p.P547T Missense 13/14 - 2
11-74049643-G-A c.1636C>T p.L546= Synonymous 13/14 - 1
11-74049645-A-G c.1634T>C p.V545A Missense 13/14 - 1
11-74050173-A-G c.1633-527T>C - IntronicSNV - 12/13 1
11-74053486-A-G c.1632+20T>C - IntronicSNV - 12/13 1
11-74053485-GA-G c.1632+20del - IntronicDeletion - 12/13 2
11-74053512-C-T c.1626G>A p.K542= Synonymous 12/14 - 1
11-74053526-T-A c.1612A>T p.S538C Missense 12/14 - 2
11-74053539-A-C c.1599T>G p.T533= Synonymous 12/14 - 1
11-74053539-A-G c.1599T>C p.T533= Synonymous 12/14 - 1
11-74053539-A-T c.1599T>A p.T533= Synonymous 12/14 - 1
11-74053542-G-T c.1596C>A p.T532= Synonymous 12/14 - 1
11-74053547-C-A c.1591G>T p.V531F Missense 12/14 - 10
11-74053547-C-G c.1591G>C p.V531L Missense 12/14 - 10
11-74053547-C-T c.1591G>A p.V531I Missense 12/14 - 44
11-74053548-G-A c.1590C>T p.D530= Synonymous 12/14 - 2
11-74053552-C-G c.1586G>C p.R529P Missense 12/14 - 1
11-74053552-C-T c.1586G>A p.R529Q Missense 12/14 - 1
11-74053553-G-A c.1585C>T p.R529W Missense 12/14 - 2
11-74053554-TAC-CAT c.1582_1584delinsATG p.V528M Missense 12/14 - 1
11-74053558-T-C c.1580A>G p.H527R Missense 12/14 - 1
11-74053568-C-G c.1570G>C p.A524P Missense 12/14 - 1
11-74053573-G-A c.1565C>T p.T522I Missense 12/14 - 7
11-74053576-C-T c.1562G>A p.G521E Missense 12/14 - 2
11-74053579-C-A c.1559G>T p.C520F Missense 12/14 - 1
11-74053579-C-T c.1559G>A p.C520Y Missense 12/14 - 1
11-74053584-T-C c.1554A>G p.K518= Synonymous 12/14 - 1
11-74053588-G-A c.1550C>T p.P517L Missense 12/14 - 1
11-74053588-GG-TT c.1549_1550delinsAA p.P517K Missense 12/14 - 1
11-74053588-G-T c.1550C>A p.P517Q Missense 12/14 - 1
11-74053589-G-A c.1549C>T p.P517S Missense 12/14 - 4
11-74053589-GGA-G c.1548_1549del p.P517Kfs*19 Frameshift 12/14 - 2
11-74053598-T-A c.1540A>T p.K514* Nonsense 12/14 - 2
11-74053600-G-T c.1538C>A p.P513Q Missense 12/14 - 2
11-74053615-C-T c.1523G>A p.R508H Missense 12/14 - 2
11-74053616-G-A c.1522C>T p.R508C Missense 12/14 - 2
11-74053620-C-A c.1518G>T p.R506S Missense 12/14 - 1
11-74053625-C-G c.1513G>C p.E505Q Missense 12/14 - 1
11-74053633-C-G c.1505G>C p.S502T Missense 12/14 - 1
11-74053639-A-T c.1499T>A p.I500N Missense 12/14 - 1
11-74053643-T-G c.1495A>C p.T499P Missense 12/14 - 1
11-74053644-AG-A c.1493del p.P498Lfs*51 Frameshift 12/14 - 1
11-74053648-G-A c.1490C>T p.P497L Missense 12/14 - 1
11-74053656-A-T c.1482T>A p.C494* Nonsense 12/14 - 2
11-74053659-C-A c.1479G>T p.L493F Missense 12/14 - 3
11-74053659-C-G c.1479G>C p.L493F Missense 12/14 - 4
11-74053661-A-T c.1477T>A p.L493M Missense 12/14 - 1
11-74053662-G-A c.1476C>T p.F492= Synonymous 12/14 - 2
11-74053669-G-A c.1469C>T p.S490F Missense 12/14 - 4
11-74053678-G-A c.1460C>T p.S487L Missense 12/14 - 2
11-74053678-G-C c.1460C>G p.S487* Nonsense 12/14 - 1
11-74053681-A-C c.1457T>G p.I486S Missense 12/14 - 1
11-74053682-T-C c.1456A>G p.I486V Missense 12/14 - 2
11-74053690-C-A c.1448G>T p.G483V Missense 12/14 - 1
11-74053691-C-A c.1447G>T p.G483C Missense 12/14 - 1
11-74053691-C-T c.1447G>A p.G483S Missense 12/14 - 1
11-74053934-C-T c.1438G>A p.E480K Missense 11/14 - 3
11-74053935-A-C c.1437T>G p.Y479* Nonsense 11/14 - 1
11-74053935-A-T c.1437T>A p.Y479* Nonsense 11/14 - 1
11-74053942-T-C c.1430A>G p.K477R Missense 11/14 - 2
11-74053947-C-A c.1425G>T p.L475= Synonymous 11/14 - 1
11-74053971-C-T c.1401G>A p.M467I Missense 11/14 - 1
11-74053975-G-A c.1397C>T p.T466I Missense 11/14 - 1
11-74053979-C-A c.1393G>T p.E465* Nonsense 11/14 - 1
11-74053981-A-G c.1391T>C p.L464P Missense 11/14 - 4
11-74053987-G-A c.1385C>T p.S462F Missense 11/14 - 1
11-74053990-G-C c.1382C>G p.A461G Missense 11/14 - 1
11-74053996-T-G c.1376A>C p.E459A Missense 11/14 - 1
11-74053997-C-T c.1375G>A p.E459K Missense 11/14 - 3
11-74054000-C-T c.1372G>A p.A458T Missense 11/14 - 1
11-74054003-C-T c.1369G>A p.V457I Missense 11/14 - 1
11-74054004-C-A c.1368G>T p.V456= Synonymous 11/14 - 1
11-74054004-C-G c.1368G>C p.V456= Synonymous 11/14 - 1
11-74054004-C-T c.1368G>A p.V456= Synonymous 11/14 - 1
11-74054017-C-T c.1355G>A p.S452N Missense 11/14 - 1
11-74054018-T-C c.1354A>G p.S452G Missense 11/14 - 1
11-74054019-C-T c.1353G>A p.V451= Synonymous 11/14 - 1
11-74054021-C-T c.1351G>A p.V451M Missense 11/14 - 1
11-74054022-C-A c.1350G>T p.G450= Synonymous 11/14 - 1
11-74054022-C-G c.1350G>C p.G450= Synonymous 11/14 - 1
11-74054022-C-T c.1350G>A p.G450= Synonymous 11/14 - 1
11-74054024-C-A c.1348G>T p.G450W Missense 11/14 - 1
11-74054025-A-G c.1347T>C p.D449= Synonymous 11/14 - 1
11-74054034-C-G c.1338G>C p.L446F Missense 11/14 - 1
11-74054039-C-T c.1333G>A p.V445I Missense 11/14 - 1
11-74054042-A-G c.1330T>C p.S444P Missense 11/14 - 1
11-74054047-C-A c.1325G>T p.G442V Missense 11/14 - 1
11-74054047-C-G c.1325G>C p.G442A Missense 11/14 - 1
11-74054175-A-G c.1313-116T>C - IntronicSNV - 10/13 1
11-74054346-G-T c.1312+22C>A - IntronicSNV - 10/13 8
11-74054376-T-C c.1304A>G p.E435G Missense 10/14 - 2
11-74054379-T-A c.1301A>T p.E434V Missense 10/14 - 1
11-74054380-C-G c.1300G>C p.E434Q Missense 10/14 - 1
11-74054385-G-T c.1295C>A p.A432E Missense 10/14 - 1
11-74054386-C-A c.1294G>T p.A432S Missense 10/14 - 1
11-74054387-A-C c.1293T>G p.F431L Missense 10/14 - 1
11-74054387-A-T c.1293T>A p.F431L Missense 10/14 - 1
11-74054389-A-G c.1291T>C p.F431L Missense 10/14 - 1
11-74054392-G-A c.1288C>T p.L430F Missense 10/14 - 1
11-74054392-G-T c.1288C>A p.L430I Missense 10/14 - 1
11-74054393-G-A c.1287C>T p.V429= Synonymous 10/14 - 1
11-74054393-G-C c.1287C>G p.V429= Synonymous 10/14 - 1
11-74054393-G-T c.1287C>A p.V429= Synonymous 10/14 - 1
11-74054398-C-A c.1282G>T p.E428* Nonsense 10/14 - 1
11-74054399-T-C c.1281A>G p.K427= Synonymous 10/14 - 2
11-74054407-T-G c.1273A>C p.N425H Missense 10/14 - 1
11-74054411-C-A c.1269G>T p.L423= Synonymous 10/14 - 1
11-74054411-C-G c.1269G>C p.L423= Synonymous 10/14 - 1
11-74054411-C-T c.1269G>A p.L423= Synonymous 10/14 - 1
11-74054413-G-A c.1267C>T p.L423= Synonymous 10/14 - 2
11-74054414-G-T c.1266C>A p.L422= Synonymous 10/14 - 1
11-74054421-A-T c.1259T>A p.I420K Missense 10/14 - 1
11-74054426-C-T c.1254G>A p.R418= Synonymous 10/14 - 2
11-74054430-C-T c.1250G>A p.S417N Missense 10/14 - 1
11-74054438-C-T c.1242G>A p.W414* Nonsense 10/14 - 1
11-74054439-C-T c.1241G>A p.W414* Nonsense 10/14 - 1
11-74054444-A-G c.1236T>C p.F412= Synonymous 10/14 - 1
11-74054448-C-G c.1232G>C p.G411A Missense 10/14 - 1
11-74054449-CCT-C c.1230_1231del p.G411Ffs*2 Frameshift 10/14 - 1
11-74056522-G-A c.1210C>T p.H404Y Missense 9/14 - 1
11-74056527-C-G c.1205G>C p.G402A Missense 9/14 - 1
11-74056534-T-G c.1198A>C p.K400Q Missense 9/14 - 1
11-74056547-C-T c.1185G>A p.K395= Synonymous 9/14 - 1
11-74056556-T-G c.1176A>C p.K392N Missense 9/14 - 1
11-74056560-G-T c.1172C>A p.S391Y Missense 9/14 - 1
11-74056564-A-G c.1168T>C p.S390P Missense 9/14 - 1
11-74056565-G-A c.1167C>T p.V389= Synonymous 9/14 - 1
11-74056565-G-C c.1167C>G p.V389= Synonymous 9/14 - 1
11-74056565-G-T c.1167C>A p.V389= Synonymous 9/14 - 1
11-74056576-C-T c.1156G>A p.A386T Missense 9/14 - 3
11-74056590-T-C c.1142A>G p.N381S Missense 9/14 - 2
11-74056596-A-G c.1136T>C p.V379A Missense 9/14 - 1
11-74056600-C-T c.1132G>A p.D378N Missense 9/14 - 2
11-74056603-C-T c.1129G>A p.A377T Missense 9/14 - 1
11-74056607-TCT-ACA c.1123_1125delinsTGT p.R375C Missense 9/14 - 1
11-74056607-TCT-CCA c.1123_1125delinsTGG p.R375W Missense 9/14 - 1
11-74056608-C-T c.1124G>A p.R375K Missense 9/14 - 1
11-74056611-G-A c.1121C>T p.S374L Missense 9/14 - 2
11-74056611-G-C c.1121C>G p.S374* Nonsense 9/14 - 1
11-74056611-G-T c.1121C>A p.S374* Nonsense 9/14 - 1
11-74056615-T-C c.1117A>G p.K373E Missense 9/14 - 1
11-74056619-T-A c.1113A>T p.K371N Missense 9/14 - 1
11-74056619-T-G c.1113A>C p.K371N Missense 9/14 - 4
11-74056616-AT-A c.1115del p.N372Ifs*8 Frameshift 9/14 - 1
11-74056622-C-T c.1110G>A p.K370= Synonymous 9/14 - 2
11-74056623-T-C c.1109A>G p.K370R Missense 9/14 - 1
11-74056625-C-T c.1107G>A p.W369* Nonsense 9/14 - 2
11-74056626-C-T c.1106G>A p.W369* Nonsense 9/14 - 3
11-74056629-C-T c.1103G>A p.C368Y Missense 9/14 - 1
11-74056633-C-G c.1099G>C p.D367H Missense 9/14 - 4
11-74056637-C-A c.1095G>T p.M365I Missense 9/14 - 1
11-74056637-C-G c.1095G>C p.M365I Missense 9/14 - 1
11-74056637-C-T c.1095G>A p.M365I Missense 9/14 - 1
11-74056639-TC-T c.1092del p.W364* Frameshift 9/14 - 1
11-74056641-C-T c.1091G>A p.W364* Nonsense 9/14 - 1
11-74056643-C-T c.1089G>A p.W363* Nonsense 9/14 - 2
11-74056644-C-T c.1088G>A p.W363* Nonsense 9/14 - 1
11-74056660-C-T c.1072G>A p.A358T Missense 9/14 - 1
11-74056662-A-G c.1070T>C p.L357S Missense 9/14 - 3
11-74056664-C-T c.1068G>A p.E356= Synonymous 9/14 - 1
11-74056666-C-G c.1066G>C p.E356Q Missense 9/14 - 1
11-74056674-G-T c.1058C>A p.T353K Missense 9/14 - 1
11-74056674-TGTGA-T c.1055_1058del p.F352* Frameshift 9/14 - 1
11-74056676-G-A c.1056C>T p.F352= Synonymous 9/14 - 1
11-74056676-G-T c.1056C>A p.F352L Missense 9/14 - 1
11-74056683-T-A c.1049A>T p.K350I Missense 9/14 - 1
11-74056691-A-G c.1041T>C p.G347= Synonymous 9/14 - 1
11-74056692-C-A c.1040G>T p.G347V Missense 9/14 - 1
11-74057647-T-C c.1037+130A>G - IntronicSNV - 8/13 4
11-74057786-A-G c.1028T>C p.L343P Missense 8/14 - 1
11-74057790-C-T c.1024G>A p.E342K Missense 8/14 - 1
11-74057793-C-T c.1021G>A p.A341T Missense 8/14 - 1
11-74057797-T-A c.1017A>T p.A339= Synonymous 8/14 - 1
11-74057797-T-C c.1017A>G p.A339= Synonymous 8/14 - 1
11-74057797-T-G c.1017A>C p.A339= Synonymous 8/14 - 1
11-74057799-C-A c.1015G>T p.A339S Missense 8/14 - 1
11-74057800-C-A c.1014G>T p.L338= Synonymous 8/14 - 1
11-74057800-C-G c.1014G>C p.L338= Synonymous 8/14 - 1
11-74057800-C-T c.1014G>A p.L338= Synonymous 8/14 - 2
11-74057802-G-A c.1012C>T p.L338= Synonymous 8/14 - 1
11-74057808-C-T c.1006G>A p.D336N Missense 8/14 - 1
11-74057808-C-CT c.1005dup p.D336Rfs*21 Frameshift 8/14 - 1
11-74057810-G-A c.1004C>T p.A335V Missense 8/14 - 1
11-74057811-C-T c.1003G>A p.A335T Missense 8/14 - 1
11-74057813-T-A c.1001A>T p.D334V Missense 8/14 - 1
11-74057814-C-A c.1000G>T p.D334Y Missense 8/14 - 1
11-74057816-G-A c.998C>T p.P333L Missense 8/14 - 1
11-74057819-T-A c.995A>T p.D332V Missense 8/14 - 1
11-74057820-C-A c.994G>T p.D332Y Missense 8/14 - 1
11-74057825-G-A c.989C>T p.A330V Missense 8/14 - 2
11-74057833-T-A c.981A>T p.V327= Synonymous 8/14 - 1
11-74057834-A-G c.980T>C p.V327A Missense 8/14 - 1
11-74057837-C-A c.977G>T p.R326L Missense 8/14 - 2
11-74057837-CG-AT c.976_977delinsAT p.R326M Missense 8/14 - 2
11-74057837-C-T c.977G>A p.R326Q Missense 8/14 - 1
11-74057840-G-A c.974C>T p.A325V Missense 8/14 - 2
11-74057841-C-T c.973G>A p.A325T Missense 8/14 - 1
11-74057865-A-C c.949T>G p.L317V Missense 8/14 - 1
11-74057874-C-A c.940G>T p.E314* Nonsense 8/14 - 1
11-74057874-C-T c.940G>A p.E314K Missense 8/14 - 1
11-74057931-C-T c.940-57G>A - IntronicSNV - 7/13 7
11-74058192-C-A c.939+1G>T - IntronicSNV - 7/13 1
11-74058198-C-T c.934G>A p.V312M Missense 7/14 - 1
11-74058215-G-A c.917C>T p.P306L Missense 7/14 - 3
11-74058222-G-C c.910C>G p.P304A Missense 7/14 - 2
11-74058224-C-T c.908G>A p.C303Y Missense 7/14 - 1
11-74058230-A-T c.902T>A p.V301D Missense 7/14 - 1
11-74058231-C-T c.901G>A p.V301I Missense 7/14 - 4
11-74058233-G-A c.899C>T p.T300I Missense 7/14 - 3
11-74058234-T-C c.898A>G p.T300A Missense 7/14 - 1
11-74058236-AG-A c.896del p.S299Lfs*19 Frameshift 7/14 - 2
11-74058236-GA-G c.895del p.S299Lfs*19 Frameshift 7/14 - 2
11-74058244-T-A c.888A>T p.P296= Synonymous 7/14 - 1
11-74058244-T-C c.888A>G p.P296= Synonymous 7/14 - 1
11-74058244-T-G c.888A>C p.P296= Synonymous 7/14 - 1
11-74058248-T-C c.884A>G p.D295G Missense 7/14 - 3
11-74058249-C-T c.883G>A p.D295N Missense 7/14 - 3
11-74058253-A-AT c.878dup p.D293Efs*3 Frameshift 7/14 - 1
11-74058261-G-T c.871C>A p.Q291K Missense 7/14 - 1
11-74058263-T-C c.869A>G p.E290G Missense 7/14 - 1
11-74058268-T-A c.864A>T p.V288= Synonymous 7/14 - 1
11-74058268-T-C c.864A>G p.V288= Synonymous 7/14 - 1
11-74058268-T-G c.864A>C p.V288= Synonymous 7/14 - 1
11-74058272-G-A c.860C>T p.P287L Missense 7/14 - 3
11-74058272-G-C c.860C>G p.P287R Missense 7/14 - 1
11-74058274-A-G c.858T>C p.I286= Synonymous 7/14 - 1
11-74058274-A-T c.858T>A p.I286= Synonymous 7/14 - 1
11-74058278-G-A c.854C>T p.P285L Missense 7/14 - 2
11-74058279-G-T c.853C>A p.P285T Missense 7/14 - 1
11-74058282-G-A c.850C>T p.P284S Missense 7/14 - 1
11-74058289-A-G c.843T>C p.G281= Synonymous 7/14 - 1
11-74058289-AC-A c.842del p.G281Vfs*37 Frameshift 7/14 - 1
11-74058293-AAC-A c.837_838del p.F280Wfs*3 Frameshift 7/14 - 1
11-74058297-C-A c.835G>T p.V279L Missense 7/14 - 1
11-74058297-C-G c.835G>C p.V279L Missense 7/14 - 1
11-74058298-T-C c.834A>G p.K278= Synonymous 7/14 - 1
11-74058317-T-C c.815A>G p.Y272C Missense 7/14 - 1
11-74058330-C-A c.802G>T p.V268F Missense 7/14 - 1
11-74058335-T-C c.797A>G p.H266R Missense 7/14 - 1
11-74058339-A-T c.793T>A p.F265I Missense 7/14 - 4
11-74058341-G-A c.791C>T p.S264F Missense 7/14 - 1
11-74058348-G-T c.784C>A p.H262N Missense 7/14 - 7
11-74058357-T-C c.775A>G p.K259E Missense 7/14 - 1
11-74058358-C-A c.774G>T p.L258F Missense 7/14 - 1
11-74058358-C-G c.774G>C p.L258F Missense 7/14 - 1
11-74058362-GT-CC c.769_770delinsGG p.T257G Missense 7/14 - 1
11-74058364-G-C c.768C>G p.T256= Synonymous 7/14 - 1
11-74058370-C-A c.762G>T p.S254= Synonymous 7/14 - 1
11-74058370-C-G c.762G>C p.S254= Synonymous 7/14 - 1
11-74058370-C-T c.762G>A p.S254= Synonymous 7/14 - 1
11-74058371-G-A c.761C>T p.S254L Missense 7/14 - 2
11-74058382-C-A c.750G>T p.R250S Missense 7/14 - 1
11-74058382-C-G c.750G>C p.R250S Missense 7/14 - 1
11-74059254-C-T c.750-872G>A - IntronicSNV - 6/13 1
11-74062413-T-G c.749+15A>C - IntronicSNV - 6/13 1
11-74062415-C-T c.749+13G>A - IntronicSNV - 6/13 1
11-74062428-C-T c.749G>A p.R250K Missense 6/14 - 1
11-74062441-T-C c.736A>G p.I246V Missense 6/14 - 1
11-74062445-T-A c.732A>T p.K244N Missense 6/14 - 1
11-74062448-C-A c.729G>T p.L243= Synonymous 6/14 - 1
11-74062448-C-G c.729G>C p.L243= Synonymous 6/14 - 1
11-74062448-C-T c.729G>A p.L243= Synonymous 6/14 - 1
11-74062450-G-A c.727C>T p.L243= Synonymous 6/14 - 1
11-74062452-T-A c.725A>T p.D242V Missense 6/14 - 1
11-74062457-C-T c.720G>A p.M240I Missense 6/14 - 1
11-74062459-T-A c.718A>T p.M240L Missense 6/14 - 1
11-74062459-T-G c.718A>C p.M240L Missense 6/14 - 1
11-74062466-C-T c.711G>A p.R237= Synonymous 6/14 - 1
11-74062468-T-G c.709A>C p.R237= Synonymous 6/14 - 1
11-74062470-C-A c.707G>T p.C236F Missense 6/14 - 2
11-74062470-C-T c.707G>A p.C236Y Missense 6/14 - 1
11-74062475-G-A c.702C>T p.D234= Synonymous 6/14 - 2
11-74062477-C-A c.700G>T p.D234Y Missense 6/14 - 1
11-74062477-C-T c.700G>A p.D234N Missense 6/14 - 1
11-74062478-C-T c.699G>A p.Q233= Synonymous 6/14 - 1
11-74062479-T-C c.698A>G p.Q233R Missense 6/14 - 1
11-74062483-G-A c.694C>T p.L232= Synonymous 6/14 - 1
11-74062496-C-A c.681G>T p.L227= Synonymous 6/14 - 3
11-74062496-C-G c.681G>C p.L227= Synonymous 6/14 - 4
11-74062496-C-T c.681G>A p.L227= Synonymous 6/14 - 3
11-74062498-G-A c.679C>T p.L227= Synonymous 6/14 - 3
11-74062500-G-A c.677C>T p.P226L Missense 6/14 - 1
11-74062505-GG-CA c.671_672delinsTG p.T224M Missense 6/14 - 1
11-74062509-T-C c.668A>G p.D223G Missense 6/14 - 2
11-74062522-C-A c.655G>T p.D219Y Missense 6/14 - 1
11-74062526-C-T c.651G>A p.W217* Nonsense 6/14 - 1
11-74062527-C-T c.650G>A p.W217* Nonsense 6/14 - 1
11-74062532-A-C c.645T>G p.G215= Synonymous 6/14 - 1
11-74062532-A-G c.645T>C p.G215= Synonymous 6/14 - 1
11-74062532-A-T c.645T>A p.G215= Synonymous 6/14 - 1
11-74062536-T-C c.641A>G p.N214S Missense 6/14 - 1
11-74062543-G-A c.634C>T p.P212S Missense 6/14 - 1
11-74062546-C-A c.631G>T p.E211* Nonsense 6/14 - 1
11-74062549-C-A c.628G>T p.V210L Missense 6/14 - 2
11-74062549-C-G c.628G>C p.V210L Missense 6/14 - 1
11-74062551-C-T c.626G>A p.C209Y Missense 6/14 - 1
11-74062563-C-T c.614G>A p.C205Y Missense 6/14 - 1
11-74062569-AG-TA c.607_608delinsTA p.L203* Nonsense 6/14 - 1
11-74062576-C-A c.601G>T p.E201* Nonsense 6/14 - 1
11-74062578-T-G c.599A>C p.K200T Missense 6/14 - 1
11-74062579-T-C c.598A>G p.K200E Missense 6/14 - 2
11-74062579-T-G c.598A>C p.K200Q Missense 6/14 - 1
11-74062593-G-A c.584C>T p.T195I Missense 6/14 - 1
11-74062594-T-C c.583A>G p.T195A Missense 6/14 - 2
11-74062602-G-A c.575C>T p.A192V Missense 6/14 - 2
11-74062606-C-G c.571G>C p.G191R Missense 6/14 - 1
11-74062608-G-A c.569C>T p.T190I Missense 6/14 - 1
11-74062608-G-C c.569C>G p.T190S Missense 6/14 - 1
11-74062609-T-A c.568A>T p.T190S Missense 6/14 - 1
11-74062613-C-T c.564G>A p.W188* Nonsense 6/14 - 2
11-74062614-C-A c.563G>T p.W188L Missense 6/14 - 1
11-74062614-C-T c.563G>A p.W188* Nonsense 6/14 - 3
11-74062615-A-G c.562T>C p.W188R Missense 6/14 - 1
11-74062615-A-T c.562T>A p.W188R Missense 6/14 - 1
11-74062621-C-T c.556G>A p.V186I Missense 6/14 - 1
11-74062745-C-T c.556-124G>A - IntronicSNV - 5/13 1
11-74062821-C-T c.556-200G>A - IntronicSNV - 5/13 1
11-74063007-A-C c.556-386T>G - IntronicSNV - 5/13 1
11-74064917-T-G c.556-2296A>C - IntronicSNV - 5/13 1
11-74065919-G-A c.556-3298C>T - IntronicSNV - 5/13 1
11-74066364-T-C c.556-3743A>G - IntronicSNV - 5/13 1
11-74066470-T-G c.556-3849A>C - IntronicSNV - 5/13 1
11-74066501-A-AG c.556-3881dup - IntronicInsertion - 5/13 1
11-74066586-G-A c.556-3965C>T - IntronicSNV - 5/13 1
11-74066586-G-C c.556-3965C>G - IntronicSNV - 5/13 1
11-74071725-G-A c.555+7812C>T - IntronicSNV - 5/13 1
11-74072634-C-A c.555+6903G>T - IntronicSNV - 5/13 1
11-74074951-CA-C c.555+4585del - IntronicDeletion - 5/13 1
11-74077404-A-G c.555+2133T>C - IntronicSNV - 5/13 1
11-74077404-A-T c.555+2133T>A - IntronicSNV - 5/13 1
11-74077639-C-A c.555+1898G>T - IntronicSNV - 5/13 1
11-74078948-G-C c.555+589C>G - IntronicSNV - 5/13 1
11-74079475-A-G c.555+62T>C - IntronicSNV - 5/13 7
11-74079501-T-A c.555+36A>T - IntronicSNV - 5/13 1
11-74079537-C-G c.555G>C p.K185N Missense 5/14 - 1
11-74079537-C-T c.555G>A p.K185= Synonymous 5/14 - 1
11-74079538-T-G c.554A>C p.K185T Missense 5/14 - 1
11-74079544-C-T c.548G>A p.G183E Missense 5/14 - 1
11-74079551-C-G c.541G>C p.D181H Missense 5/14 - 4
11-74079554-C-T c.538G>A p.E180K Missense 5/14 - 1
11-74079559-C-T c.533G>A p.R178H Missense 5/14 - 1
11-74079560-G-A c.532C>T p.R178C Missense 5/14 - 2
11-74079560-G-C c.532C>G p.R178G Missense 5/14 - 1
11-74079562-T-G c.530A>C p.N177T Missense 5/14 - 1
11-74079564-G-A c.528C>T p.H176= Synonymous 5/14 - 1
11-74079566-G-A c.526C>T p.H176Y Missense 5/14 - 1
11-74079567-A-C c.525T>G p.S175= Synonymous 5/14 - 1
11-74079567-A-G c.525T>C p.S175= Synonymous 5/14 - 2
11-74079567-AG-TT c.524_525delinsAA p.S175* Nonsense 5/14 - 1
11-74079567-A-T c.525T>A p.S175= Synonymous 5/14 - 1
11-74079568-GA-CG c.523_524delinsCG p.S175R Missense 5/14 - 1
11-74079574-GT-CA c.517_518delinsTG p.T173C Missense 5/14 - 1
11-74079585-A-G c.507T>C p.G169= Synonymous 5/14 - 1
11-74079590-C-A c.502G>T p.A168S Missense 5/14 - 1
11-74079596-C-T c.496G>A p.A166T Missense 5/14 - 1
11-74079603-C-T c.489G>A p.K163= Synonymous 5/14 - 2
11-74079614-C-G c.478G>C p.A160P Missense 5/14 - 1
11-74079619-G-A c.473C>T p.P158L Missense 5/14 - 1
11-74081251-CA-C c.471+695del - IntronicDeletion - 4/13 1
11-74081931-A-G c.471+16T>C - IntronicSNV - 4/13 1
11-74081946-C-T c.471+1G>A - IntronicSNV - 4/13 1
11-74081970-T-TA c.447_448insT p.R150* Nonsense 4/14 - 1
11-74081972-GA-G c.445del p.S149Qfs*22 Frameshift 4/14 - 2
11-74081972-G-GA c.445dup p.S149Ffs*51 Frameshift 4/14 - 1
11-74081978-A-T c.440T>A p.L147H Missense 4/14 - 1
11-74081987-G-A c.431C>T p.P144L Missense 4/14 - 1
11-74081995-T-C c.423A>G p.K141= Synonymous 4/14 - 1
11-74082000-C-G c.418G>C p.A140P Missense 4/14 - 1
11-74082008-A-G c.410T>C p.V137A Missense 4/14 - 1
11-74082009-C-T c.409G>A p.V137I Missense 4/14 - 1
11-74082011-G-C c.407C>G p.A136G Missense 4/14 - 1
11-74082021-G-C c.397C>G p.L133V Missense 4/14 - 1
11-74082026-G-C c.392C>G p.A131G Missense 4/14 - 1
11-74082027-CA-C c.390del p.A131Lfs*40 Frameshift 4/14 - 2
11-74082697-A-C c.386+59T>G - IntronicSNV - 3/13 1
11-74082748-C-T c.386+8G>A - IntronicSNV - 3/13 1
11-74082756-C-T c.386G>A p.R129K Missense 3/14 - 1
11-74082761-G-A c.381C>T p.S127= Synonymous 3/14 - 1
11-74082761-G-C c.381C>G p.S127R Missense 3/14 - 1
11-74082761-G-T c.381C>A p.S127R Missense 3/14 - 1
11-74082763-T-G c.379A>C p.S127R Missense 3/14 - 1
11-74082765-C-T c.377G>A p.S126N Missense 3/14 - 1
11-74082768-CA-GT c.373_374delinsAC p.C125T Missense 3/14 - 1
11-74082774-C-T c.368G>A p.S123N Missense 3/14 - 1
11-74082776-A-C c.366T>G p.T122= Synonymous 3/14 - 2
11-74082776-A-G c.366T>C p.T122= Synonymous 3/14 - 2
11-74082776-A-T c.366T>A p.T122= Synonymous 3/14 - 2
11-74082778-T-C c.364A>G p.T122A Missense 3/14 - 1
11-74082782-T-A c.360A>T p.Q120H Missense 3/14 - 1
11-74082782-T-G c.360A>C p.Q120H Missense 3/14 - 1
11-74082789-C-A c.353G>T p.R118L Missense 3/14 - 1
11-74082804-A-G c.338T>C p.V113A Missense 3/14 - 2
11-74082813-C-T c.329G>A p.G110D Missense 3/14 - 3
11-74082815-TCT-ATG c.325_327delinsCAT p.R109H Missense 3/14 - 2
11-74082820-G-A c.322C>T p.Q108* Nonsense 3/14 - 1
11-74082821-C-G c.321G>C p.K107N Missense 3/14 - 1
11-74082822-T-C c.320A>G p.K107R Missense 3/14 - 1
11-74082824-G-A c.318C>T p.F106= Synonymous 3/14 - 1
11-74082836-A-T c.306T>A p.C102* Nonsense 3/14 - 1
11-74082841-T-A c.301A>T p.R101* Nonsense 3/14 - 1
11-74082844-C-T c.298G>A p.E100K Missense 3/14 - 1
11-74082844-C-CA c.297dup p.E100* Nonsense 3/14 - 1
11-74082846-A-C c.296T>G p.L99R Missense 3/14 - 1
11-74082848-G-C c.294C>G p.Y98* Nonsense 3/14 - 1
11-74082860-C-A c.282G>T p.G94= Synonymous 3/14 - 1
11-74082860-C-G c.282G>C p.G94= Synonymous 3/14 - 1
11-74082860-C-T c.282G>A p.G94= Synonymous 3/14 - 1
11-74082861-C-G c.281G>C p.G94A Missense 3/14 - 1
11-74085138-CT-C c.279+321del - IntronicDeletion - 2/13 1
11-74085384-C-T c.279+76G>A - IntronicSNV - 2/13 5
11-74085420-T-C c.279+40A>G - IntronicSNV - 2/13 5
11-74085420-T-G c.279+40A>C - IntronicSNV - 2/13 6
11-74085465-T-C c.274A>G p.T92A Missense 2/14 - 1
11-74085464-G-GT c.274dup p.T92Nfs*9 Frameshift 2/14 - 1
11-74085469-C-T c.270G>A p.Q90= Synonymous 2/14 - 1
11-74085479-G-A c.260C>T p.T87I Missense 2/14 - 2
11-74085482-A-C c.257T>G p.L86R Missense 2/14 - 1
11-74085491-A-G c.248T>C p.I83T Missense 2/14 - 1
11-74085492-T-C c.247A>G p.I83V Missense 2/14 - 1
11-74085521-C-T c.218G>A p.R73H Missense 2/14 - 1
11-74085522-G-A c.217C>T p.R73C Missense 2/14 - 8
11-74085524-A-C c.215T>G p.L72R Missense 2/14 - 1
11-74085525-G-T c.214C>A p.L72I Missense 2/14 - 2
11-74085533-G-C c.206C>G p.T69S Missense 2/14 - 1
11-74085534-T-A c.205A>T p.T69S Missense 2/14 - 1
11-74085534-T-C c.205A>G p.T69A Missense 2/14 - 1
11-74085536-C-T c.203G>A p.G68E Missense 2/14 - 1
11-74085538-A-C c.201T>G p.F67L Missense 2/14 - 1
11-74085538-A-T c.201T>A p.F67L Missense 2/14 - 1
11-74085540-A-G c.199T>C p.F67L Missense 2/14 - 1
11-74085547-T-A c.192A>T p.R64= Synonymous 2/14 - 1
11-74085547-T-C c.192A>G p.R64= Synonymous 2/14 - 1
11-74085547-T-G c.192A>C p.R64= Synonymous 2/14 - 1
11-74085549-G-T c.190C>A p.R64= Synonymous 2/14 - 2
11-74085551-CA-GC c.187_188delinsGC p.C63A Missense 2/14 - 1
11-74085555-A-G c.184T>C p.C62R Missense 2/14 - 1
11-74085558-G-T c.181C>A p.L61I Missense 2/14 - 1
11-74085560-C-T c.179G>A p.R60H Missense 2/14 - 1
11-74085561-G-A c.178C>T p.R60C Missense 2/14 - 1
11-74085564-C-A c.175G>T p.D59Y Missense 2/14 - 1
11-74085566-C-T c.173G>A p.R58Q Missense 2/14 - 1
11-74085567-G-A c.172C>T p.R58* Nonsense 2/14 - 2
11-74085568-C-A c.171G>T p.L57= Synonymous 2/14 - 1
11-74085568-C-G c.171G>C p.L57= Synonymous 2/14 - 1
11-74085568-C-T c.171G>A p.L57= Synonymous 2/14 - 1
11-74085570-G-A c.169C>T p.L57= Synonymous 2/14 - 1
11-74085573-C-T c.166G>A p.E56K Missense 2/14 - 1
11-74085584-C-T c.155G>A p.G52E Missense 2/14 - 1
11-74085587-T-C c.152A>G p.N51S Missense 2/14 - 1
11-74085598-G-C c.141C>G p.N47K Missense 2/14 - 2
11-74085603-C-T c.136G>A p.E46K Missense 2/14 - 1
11-74085609-TG-T c.130del p.Q44Rfs*10 Frameshift 2/14 - 1
11-74085612-C-T c.127G>A p.E43K Missense 2/14 - 1
11-74085614-T-C c.125A>G p.K42R Missense 2/14 - 1
11-74085623-G-A c.116C>T p.P39L Missense 2/14 - 1
11-74085627-T-A c.112A>T p.N38Y Missense 2/14 - 1
11-74109101-C-T c.106G>A p.D36N Missense 1/14 - 1
11-74109106-CG-AT c.100_101delinsAT p.R34I Missense 1/14 - 1
11-74109111-C-A c.96G>T p.W32C Missense 1/14 - 1
11-74109111-C-T c.96G>A p.W32* Nonsense 1/14 - 2
11-74109118-C-T c.89G>A p.G30E Missense 1/14 - 1
11-74109121-A-G c.86T>C p.I29T Missense 1/14 - 1
11-74109123-GGC-CTT c.82_84delinsAAG p.A28K Missense 1/14 - 1
11-74109124-GC-AA c.82_83delinsTT p.A28F Missense 1/14 - 1
11-74109127-G-A c.80C>T p.T27M Missense 1/14 - 1
11-74109129-G-A c.78C>T p.D26= Synonymous 1/14 - 1
11-74109130-T-C c.77A>G p.D26G Missense 1/14 - 1
11-74109138-AG-TT c.68_69delinsAA p.P23Q Missense 1/14 - 1
11-74109141-G-C c.66C>G p.D22E Missense 1/14 - 1
11-74109141-G-T c.66C>A p.D22E Missense 1/14 - 1
11-74109142-T-C c.65A>G p.D22G Missense 1/14 - 1
11-74109145-C-T c.62G>A p.G21E Missense 1/14 - 4
11-74109155-TA-T c.52del p.Y18Tfs*36 Frameshift 1/14 - 1
11-74109156-G-A c.51C>T p.P17= Synonymous 1/14 - 1
11-74109156-G-C c.51C>G p.P17= Synonymous 1/14 - 1
11-74109156-G-T c.51C>A p.P17= Synonymous 1/14 - 1
11-74109158-G-A c.49C>T p.P17S Missense 1/14 - 2
11-74109155-AG-A c.51del p.Y18Tfs*36 Frameshift 1/14 - 3
11-74109160-GC-AA c.46_47delinsTT p.A16F Missense 1/14 - 1
11-74109160-GC-TA c.46_47delinsTA p.A16Y Missense 1/14 - 2
11-74109165-G-A c.42C>T p.L14= Synonymous 1/14 - 1
11-74109165-G-C c.42C>G p.L14= Synonymous 1/14 - 1
11-74109165-G-T c.42C>A p.L14= Synonymous 1/14 - 1
11-74109166-A-G c.41T>C p.L14P Missense 1/14 - 20
11-74109172-T-C c.35A>G p.N12S Missense 1/14 - 1
11-74109178-T-G c.29A>C p.N10T Missense 1/14 - 1
11-74109198-T-A c.9A>T p.E3D Missense 1/14 - 1
11-74109231-G-T c.-25C>A - 5-UTRSNV 1/14 - 1
11-74109241-G-A c.-35C>T - 5-UTRSNV 1/14 - 1
11-74109251-A-T c.-45T>A - 5-UTRSNV 1/14 - 1
11-74109342-C-G c.-136G>C - 5-UTRSNV 1/14 - 12
11-74109342-C-T c.-136G>A - 5-UTRSNV 1/14 - 12