PRODH

PRODH proline dehydrogenase 1

Annotation transcript: NM_016335.6

613 unique variant annotations were identified in 437 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
22-18900646-G-A c.*42C>T - 3-UTRSNV 14/14 - 2
22-18900646-G-C c.*42C>G - 3-UTRSNV 14/14 - 2
22-18900669-A-C c.*19T>G - 3-UTRSNV 14/14 - 17
22-18900669-A-G c.*19T>C - 3-UTRSNV 14/14 - 17
22-18900669-A-T c.*19T>A - 3-UTRSNV 14/14 - 17
22-18900719-C-G c.1772G>C p.R591P Missense 14/14 - 1
22-18900719-C-T c.1772G>A p.R591Q Missense 14/14 - 1
22-18900718-T-A c.1773A>T p.R591= Synonymous 14/14 - 1
22-18900718-T-C c.1773A>G p.R591= Synonymous 14/14 - 1
22-18900718-T-G c.1773A>C p.R591= Synonymous 14/14 - 1
22-18900720-G-T c.1771C>A p.R591= Synonymous 14/14 - 1
22-18900725-C-T c.1766G>A p.R589Q Missense 14/14 - 1
22-18900728-CT-GC c.1762_1763delinsGC p.R588A Missense 14/14 - 1
22-18900731-A-G c.1760T>C p.L587S Missense 14/14 - 1
22-18900732-A-C c.1759T>G p.L587V Missense 14/14 - 1
22-18900742-C-T c.1749G>A p.W583* Nonsense 14/14 - 1
22-18900743-C-T c.1748G>A p.W583* Nonsense 14/14 - 1
22-18900748-C-A c.1743G>T p.L581= Synonymous 14/14 - 2
22-18900748-C-G c.1743G>C p.L581= Synonymous 14/14 - 2
22-18900748-C-T c.1743G>A p.L581= Synonymous 14/14 - 2
22-18900750-G-A c.1741C>T p.L581= Synonymous 14/14 - 30
22-18900755-C-A c.1736G>T p.R579L Missense 14/14 - 1
22-18900756-G-A c.1735C>T p.R579W Missense 14/14 - 1
22-18900759-C-G c.1732G>C p.E578Q Missense 14/14 - 1
22-18900760-C-A c.1731G>T p.R577= Synonymous 14/14 - 1
22-18900760-C-G c.1731G>C p.R577= Synonymous 14/14 - 1
22-18900760-C-T c.1731G>A p.R577= Synonymous 14/14 - 2
22-18900762-G-T c.1729C>A p.R577= Synonymous 14/14 - 1
22-18900765-G-A c.1726C>T p.H576Y Missense 14/14 - 1
22-18900776-A-G c.1715T>C p.M572T Missense 14/14 - 1
22-18900778-G-A c.1713C>T p.L571= Synonymous 14/14 - 1
22-18900778-G-C c.1713C>G p.L571= Synonymous 14/14 - 1
22-18900778-G-T c.1713C>A p.L571= Synonymous 14/14 - 1
22-18900794-AG-A c.1696del p.L566Wfs*7 Frameshift 14/14 - 1
22-18900797-G-A c.1694C>T p.A565V Missense 14/14 - 1
22-18900800-C-T c.1691G>A p.R564H Missense 14/14 - 2
22-18900803-C-T c.1688G>A p.R563H Missense 14/14 - 1
22-18900805-G-A c.1686C>T p.S562= Synonymous 14/14 - 1
22-18900806-G-A c.1685C>T p.S562F Missense 14/14 - 1
22-18900811-G-T c.1680C>A p.Y560* Nonsense 14/14 - 1
22-18900825-C-A c.1666G>T p.E556* Nonsense 14/14 - 1
22-18900831-C-A c.1660G>T p.V554L Missense 14/14 - 1
22-18900831-C-T c.1660G>A p.V554M Missense 14/14 - 1
22-18900833-G-A c.1658C>T p.P553L Missense 14/14 - 1
22-18900839-T-C c.1652A>G p.Y551C Missense 14/14 - 1
22-18900839-T-G c.1652A>C p.Y551S Missense 14/14 - 1
22-18900845-A-G c.1646T>C p.V549A Missense 14/14 - 1
22-18900846-C-T c.1645G>A p.V549M Missense 14/14 - 1
22-18900847-G-A c.1644C>T p.Y548= Synonymous 14/14 - 2
22-18900848-T-C c.1643A>G p.Y548C Missense 14/14 - 1
22-18900865-GCC-TCA c.1624_1626delinsTGA p.G542* Nonsense 14/14 - 1
22-18900868-G-A c.1623C>T p.A541= Synonymous 14/14 - 3
22-18900868-G-C c.1623C>G p.A541= Synonymous 14/14 - 3
22-18900868-G-T c.1623C>A p.A541= Synonymous 14/14 - 1
22-18900871-C-G c.1620G>C p.Q540H Missense 14/14 - 1
22-18900881-18900882---GGGGGCAGATACACCATG c.1616-24_1616-7dup - splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant - 13/13 1
22-18900952-CAG-GAT c.1612_1614delinsATC p.L538I Missense 13/14 - 1
22-18900967-C-T c.1599G>A p.Q533= Synonymous 13/14 - 1
22-18900977-A-G c.1589T>C p.M530T Missense 13/14 - 1
22-18900987-G-C c.1579C>G p.L527V Missense 13/14 - 2
22-18900990-G-A c.1576C>T p.Q526* Nonsense 13/14 - 1
22-18901001-A-C c.1565T>G p.V522G Missense 13/14 - 1
22-18901002-C-T c.1564G>A p.V522M Missense 13/14 - 1
22-18901004-C-T c.1562G>A p.R521Q Missense 13/14 - 48
22-18901022-A-C c.1544T>G p.L515R Missense 13/14 - 1
22-18901025-C-A c.1541G>T p.G514V Missense 13/14 - 1
22-18901029-G-A c.1537C>T p.L513= Synonymous 13/14 - 2
22-18901032-C-G c.1534G>C p.E512Q Missense 13/14 - 1
22-18901037-A-T c.1529T>A p.M510K Missense 13/14 - 1
22-18901038-T-A c.1528A>T p.M510L Missense 13/14 - 1
22-18901038-T-G c.1528A>C p.M510L Missense 13/14 - 1
22-18901039-C-A c.1527G>T p.R509S Missense 13/14 - 1
22-18901039-C-G c.1527G>C p.R509S Missense 13/14 - 1
22-18901090-A-G c.1527-51T>C - IntronicSNV - 12/13 9
22-18901290-G-A c.1527-251C>T - IntronicSNV - 12/13 2
22-18902700-A-G c.1527-1661T>C - IntronicSNV - 12/13 1
22-18902852-C-T c.1526+1551G>A - IntronicSNV - 12/13 1
22-18904144-G-A c.1526+259C>T - IntronicSNV - 12/13 1
22-18904349-C-G c.1526+54G>C - IntronicSNV - 12/13 1
22-18904414-A-C c.1515T>G p.F505L Missense 12/14 - 4
22-18904414-A-G c.1515T>C p.F505= Synonymous 12/14 - 21
22-18904415-AA-GC c.1513_1514delinsGC p.F505A Missense 12/14 - 1
22-18904417-G-A c.1512C>T p.R504= Synonymous 12/14 - 2
22-18904422-C-A c.1507G>T p.V503L Missense 12/14 - 1
22-18904431-C-T c.1498G>A p.E500K Missense 12/14 - 1
22-18904432-A-C c.1497T>G p.N499K Missense 12/14 - 1
22-18904432-A-T c.1497T>A p.N499K Missense 12/14 - 1
22-18904434-T-C c.1495A>G p.N499D Missense 12/14 - 5
22-18904435-G-A c.1494C>T p.H498= Synonymous 12/14 - 1
22-18904437-G-A c.1492C>T p.H498Y Missense 12/14 - 1
22-18904450-CAC-GAT c.1477_1479delinsATC p.V493I Missense 12/14 - 2
22-18904452-C-A c.1477G>T p.V493L Missense 12/14 - 1
22-18904452-C-G c.1477G>C p.V493L Missense 12/14 - 1
22-18904456-G-A c.1473C>T p.A491= Synonymous 12/14 - 1
22-18904456-G-C c.1473C>G p.A491= Synonymous 12/14 - 1
22-18904456-G-T c.1473C>A p.A491= Synonymous 12/14 - 1
22-18904457-G-A c.1472C>T p.A491V Missense 12/14 - 1
22-18904461-T-C c.1468A>G p.K490E Missense 12/14 - 1
22-18904462-G-T c.1467C>A p.A489= Synonymous 12/14 - 1
22-18904464-C-T c.1465G>A p.A489T Missense 12/14 - 1
22-18904466-T-C c.1463A>G p.N488S Missense 12/14 - 6
22-18904467-T-C c.1462A>G p.N488D Missense 12/14 - 1
22-18904469-TG-GC c.1459_1460delinsGC p.H487A Missense 12/14 - 1
22-18904483-CA-C c.1445del p.L482Wfs*4 Frameshift 12/14 - 1
22-18904488-C-T c.1441G>A p.V481M Missense 12/14 - 1
22-18904489-G-A c.1440C>T p.Y480= Synonymous 12/14 - 4
22-18904493-T-C c.1436A>G p.D479G Missense 12/14 - 1
22-18904606-T-C c.1428-105A>G - IntronicSNV - 11/13 7
22-18904606-T-G c.1428-105A>C - IntronicSNV - 11/13 7
22-18904643-G-A c.1428-142C>T - IntronicSNV - 11/13 5
22-18904750-T-G c.1428-249A>C - IntronicSNV - 11/13 3
22-18904812-G-A c.1428-311C>T - IntronicSNV - 11/13 1
22-18905523-C-T c.1427+306G>A - IntronicSNV - 11/13 1
22-18905624-G-A c.1427+205C>T - IntronicSNV - 11/13 1
22-18905828-C-T c.1427+1G>A - IntronicSNV - 11/13 1
22-18905833-G-A c.1423C>T p.H475Y Missense 11/14 - 3
22-18905837-C-A c.1419G>T p.M473I Missense 11/14 - 1
22-18905837-C-G c.1419G>C p.M473I Missense 11/14 - 1
22-18905837-C-T c.1419G>A p.M473I Missense 11/14 - 1
22-18905842-C-T c.1414G>A p.A472T Missense 11/14 - 19
22-18905843-G-A c.1413C>T p.N471= Synonymous 11/14 - 6
22-18905850-G-A c.1406C>T p.A469V Missense 11/14 - 2
22-18905853-T-A c.1403A>T p.E468V Missense 11/14 - 1
22-18905854-C-T c.1402G>A p.E468K Missense 11/14 - 1
22-18905855-G-A c.1401C>T p.Y467= Synonymous 11/14 - 1
22-18905859-G-A c.1397C>T p.T466M Missense 11/14 - 12
22-18905882-G-A c.1374C>T p.G458= Synonymous 11/14 - 2
22-18905882-G-C c.1374C>G p.G458= Synonymous 11/14 - 2
22-18905882-G-T c.1374C>A p.G458= Synonymous 11/14 - 4
22-18905888-C-A c.1368G>T p.E456D Missense 11/14 - 1
22-18905888-C-G c.1368G>C p.E456D Missense 11/14 - 1
22-18905888-C-T c.1368G>A p.E456= Synonymous 11/14 - 1
22-18905889-T-TC c.1366dup p.E456Gfs*5 Frameshift 11/14 - 1
22-18905890-C-T c.1366G>A p.E456K Missense 11/14 - 1
22-18905892-G-A c.1364C>T p.A455V Missense 11/14 - 1
22-18905893-C-A c.1363G>T p.A455S Missense 11/14 - 9
22-18905894-C-A c.1362G>T p.A454= Synonymous 11/14 - 1
22-18905894-C-G c.1362G>C p.A454= Synonymous 11/14 - 1
22-18905894-C-T c.1362G>A p.A454= Synonymous 11/14 - 6
22-18905895-G-A c.1361C>T p.A454V Missense 11/14 - 2
22-18905897-A-C c.1359T>G p.R453= Synonymous 11/14 - 1
22-18905897-A-G c.1359T>C p.R453= Synonymous 11/14 - 1
22-18905897-A-T c.1359T>A p.R453= Synonymous 11/14 - 1
22-18905898-C-T c.1358G>A p.R453H Missense 11/14 - 2
22-18905899-G-A c.1357C>T p.R453C Missense 11/14 - 15
22-18905900-G-A c.1356C>T p.A452= Synonymous 11/14 - 1
22-18905900-G-C c.1356C>G p.A452= Synonymous 11/14 - 1
22-18905900-G-T c.1356C>A p.A452= Synonymous 11/14 - 2
22-18905901-G-A c.1355C>T p.A452V Missense 11/14 - 1
22-18905903-TCG-ACA c.1351_1353delinsTGT p.R451C Missense 11/14 - 1
22-18905906-C-T c.1350G>A p.E450= Synonymous 11/14 - 1
22-18905909-C-T c.1347G>A p.Q449= Synonymous 11/14 - 1
22-18905911-G-C c.1345C>G p.Q449E Missense 11/14 - 1
22-18905912-G-A c.1344C>T p.A448= Synonymous 11/14 - 4
22-18905910-TG-T c.1345del p.Q449Rfs*37 Frameshift 11/14 - 1
22-18905914-C-A c.1342G>T p.A448S Missense 11/14 - 1
22-18905923-C-T c.1333G>A p.A445T Missense 11/14 - 2
22-18905924-G-A c.1332C>T p.G444= Synonymous 11/14 - 1
22-18905925-C-T c.1331G>A p.G444D Missense 11/14 - 3
22-18905927-C-T c.1329G>A p.R443= Synonymous 11/14 - 2
22-18905928-C-T c.1328G>A p.R443Q Missense 11/14 - 3
22-18905929-G-A c.1327C>T p.R443W Missense 11/14 - 1
22-18905934-A-G c.1322T>C p.L441P Missense 11/14 - 24
22-18905949-C-T c.1307G>A p.C436Y Missense 11/14 - 1
22-18905959-C-A c.1297G>T p.E433* Nonsense 11/14 - 1
22-18905961-C-T c.1295G>A p.R432H Missense 11/14 - 1
22-18905963-G-A c.1293C>T p.R431= Synonymous 11/14 - 1
22-18905963-G-C c.1293C>G p.R431= Synonymous 11/14 - 1
22-18905963-GCG-CAT c.1291_1293delinsATG p.R431M Missense 11/14 - 2
22-18905963-G-T c.1293C>A p.R431= Synonymous 11/14 - 1
22-18905964-C-T c.1292G>A p.R431H Missense 11/14 - 22
22-18905968-C-T c.1288G>A p.A430T Missense 11/14 - 1
22-18905970-A-G c.1286T>C p.L429P Missense 11/14 - 1
22-18905976-A-G c.1280T>C p.V427A Missense 11/14 - 1
22-18905977-C-T c.1279G>A p.V427M Missense 11/14 - 13
22-18905978-G-A c.1278C>T p.D426= Synonymous 11/14 - 8
22-18905980-C-T c.1276G>A p.D426N Missense 11/14 - 1
22-18905982-A-G c.1274T>C p.L425P Missense 11/14 - 1
22-18905986-T-G c.1270A>C p.T424P Missense 11/14 - 1
22-18905991-T-C c.1265A>G p.N422S Missense 11/14 - 1
22-18905991-T-G c.1265A>C p.N422T Missense 11/14 - 1
22-18905995-C-T c.1261G>A p.D421N Missense 11/14 - 1
22-18905999-G-A c.1257C>T p.A419= Synonymous 11/14 - 1
22-18905999-G-C c.1257C>G p.A419= Synonymous 11/14 - 1
22-18905999-G-T c.1257C>A p.A419= Synonymous 11/14 - 1
22-18906002-A-C c.1254T>G p.D418E Missense 11/14 - 2
22-18906002-A-T c.1254T>A p.D418E Missense 11/14 - 1
22-18906655-T-C c.1251+309A>G - IntronicSNV - 10/13 2
22-18906705-A-G c.1251+259T>C - IntronicSNV - 10/13 1
22-18906742-G-A c.1251+222C>T - IntronicSNV - 10/13 1
22-18906839-A-G c.1251+125T>C - IntronicSNV - 10/13 3
22-18906964-C-T c.1251G>A p.K417= Synonymous 10/14 - 1
22-18906975-A-G c.1240T>C p.C414R Missense 10/14 - 1
22-18906976-C-A c.1239G>T p.Q413H Missense 10/14 - 1
22-18906976-C-G c.1239G>C p.Q413H Missense 10/14 - 1
22-18906976-C-T c.1239G>A p.Q413= Synonymous 10/14 - 1
22-18906979-G-T c.1236C>A p.Y412* Nonsense 10/14 - 1
22-18906998-G-A c.1217C>T p.P406L Missense 10/14 - 6
22-18906999-G-A c.1216C>T p.P406S Missense 10/14 - 1
22-18907005-C-G c.1210G>C p.E404Q Missense 10/14 - 2
22-18907005-C-T c.1210G>A p.E404K Missense 10/14 - 1
22-18907009-A-G c.1206T>C p.N402= Synonymous 10/14 - 1
22-18907019-C-T c.1196G>A p.R399Q Missense 10/14 - 1
22-18907027-C-A c.1188G>T p.E396D Missense 10/14 - 1
22-18907027-C-G c.1188G>C p.E396D Missense 10/14 - 1
22-18907027-C-T c.1188G>A p.E396= Synonymous 10/14 - 1
22-18907034-G-A c.1181C>T p.T394M Missense 10/14 - 1
22-18907040-CG-GT c.1174_1175delinsAC p.R392T Missense 10/14 - 1
22-18907040-C-T c.1175G>A p.R392H Missense 10/14 - 1
22-18907041-G-A c.1174C>T p.R392C Missense 10/14 - 1
22-18907048-G-A c.1167C>T p.A389= Synonymous 10/14 - 1
22-18907048-G-C c.1167C>G p.A389= Synonymous 10/14 - 1
22-18907048-G-T c.1167C>A p.A389= Synonymous 10/14 - 2
22-18907052-G-A c.1163C>T p.P388L Missense 10/14 - 1
22-18907052-G-T c.1163C>A p.P388Q Missense 10/14 - 1
22-18907071-C-T c.1144G>A p.E382K Missense 10/14 - 1
22-18907072-G-GA c.1142_1143insT p.E382Rfs*40 Frameshift 10/14 - 1
22-18907075-A-AGACCTACT c.1139_1140insAGTAGGTC p.D380Efs*17 Frameshift 10/14 - 1
22-18907078-C-T c.1137G>A p.V379= Synonymous 10/14 - 4
22-18907079-A-AGCCGG c.1135_1136insCCGGC p.V379Afs*17 Frameshift 10/14 - 1
22-18907088-C-T c.1127G>A p.R376Q Missense 10/14 - 3
22-18907089-G-A c.1126C>T p.R376W Missense 10/14 - 1
22-18907092-C-T c.1123G>A p.V375M Missense 10/14 - 2
22-18907093-G-A c.1122C>T p.G374= Synonymous 10/14 - 2
22-18907098-T-A c.1117A>T p.M373L Missense 10/14 - 1
22-18907100-T-G c.1115A>C p.E372A Missense 10/14 - 2
22-18907106-G-C c.1109C>G p.A370G Missense 10/14 - 1
22-18907124-G-A c.1105-14C>T - IntronicSNV - 9/13 14
22-18907124-G-C c.1105-14C>G - IntronicSNV - 9/13 14
22-18907192-A-C c.1104+27T>G - IntronicSNV - 9/13 1
22-18907217-A-G c.1104+2T>C - IntronicSNV - 9/13 3
22-18907223-G-A c.1100C>T p.A367V Missense 9/14 - 1
22-18907224-C-G c.1099G>C p.A367P Missense 9/14 - 1
22-18907225-CAG-GAT c.1096_1098delinsATC p.L366I Missense 9/14 - 1
22-18907230-C-T c.1093G>A p.V365I Missense 9/14 - 1
22-18907235-A-G c.1088T>C p.M363T Missense 9/14 - 1
22-18907237-C-T c.1086G>A p.R362= Synonymous 9/14 - 2
22-18907238-C-T c.1085G>A p.R362Q Missense 9/14 - 1
22-18907244-A-G c.1079T>C p.L360P Missense 9/14 - 1
22-18907252-G-A c.1071C>T p.T357= Synonymous 9/14 - 1
22-18907254-T-G c.1069A>C p.T357P Missense 9/14 - 1
22-18907255-C-A c.1068G>T p.M356I Missense 9/14 - 2
22-18907266-C-T c.1057G>A p.E353K Missense 9/14 - 2
22-18907272-C-A c.1051G>T p.E351* Nonsense 9/14 - 1
22-18907272-C-T c.1051G>A p.E351K Missense 9/14 - 1
22-18907273-C-A c.1050G>T p.E350D Missense 9/14 - 2
22-18907273-C-G c.1050G>C p.E350D Missense 9/14 - 2
22-18907275-C-A c.1048G>T p.E350* Nonsense 9/14 - 1
22-18907275-C-T c.1048G>A p.E350K Missense 9/14 - 1
22-18907277-G-A c.1046C>T p.T349I Missense 9/14 - 1
22-18907278-T-C c.1045A>G p.T349A Missense 9/14 - 1
22-18907286-G-GC c.1036_1037insG p.S346Cfs*5 Frameshift 9/14 - 1
22-18907286-G-T c.1037C>A p.S346Y Missense 9/14 - 1
22-18907288-C-A c.1035G>T p.L345= Synonymous 9/14 - 1
22-18907294-G-A c.1029C>T p.P343= Synonymous 9/14 - 1
22-18907305-G-A c.1018C>T p.Q340* Nonsense 9/14 - 1
22-18907310-G-A c.1013C>T p.T338I Missense 9/14 - 1
22-18907311-T-G c.1012A>C p.T338P Missense 9/14 - 1
22-18907405-G-T c.1012-94C>A - IntronicSNV - 8/13 1
22-18908684-C-T c.1011+171G>A - IntronicSNV - 8/13 1
22-18908814-G-A c.1011+41C>T - IntronicSNV - 8/13 1
22-18908814-G-T c.1011+41C>A - IntronicSNV - 8/13 1
22-18908855-C-A c.1011G>T p.Q337H Missense 8/14 - 1
22-18908855-C-G c.1011G>C p.Q337H Missense 8/14 - 1
22-18908862-T-C c.1004A>G p.N335S Missense 8/14 - 1
22-18908868-A-G c.998T>C p.V333A Missense 8/14 - 1
22-18908869-C-T c.997G>A p.V333I Missense 8/14 - 2
22-18908873-C-T c.993G>A p.L331= Synonymous 8/14 - 3
22-18908875-A-C c.991T>G p.L331V Missense 8/14 - 4
22-18908875-A-G c.991T>C p.L331= Synonymous 8/14 - 21
22-18908880-TT-GC c.985_986delinsGC p.K329A Missense 8/14 - 1
22-18908883-G-A c.983C>T p.S328F Missense 8/14 - 1
22-18908888-C-T c.978G>A p.K326= Synonymous 8/14 - 1
22-18908895-C-T c.971G>A p.R324K Missense 8/14 - 1
22-18908898-C-T c.968G>A p.S323N Missense 8/14 - 1
22-18908902-C-T c.964G>A p.D322N Missense 8/14 - 1
22-18908905-T-A c.961A>T p.I321F Missense 8/14 - 2
22-18908910-C-A c.956G>T p.S319I Missense 8/14 - 2
22-18908910-C-T c.956G>A p.S319N Missense 8/14 - 1
22-18908913-C-G c.953G>C p.S318T Missense 8/14 - 1
22-18908921-C-T c.945G>A p.L315= Synonymous 8/14 - 1
22-18908924-C-A c.942G>T p.L314= Synonymous 8/14 - 1
22-18908924-C-G c.942G>C p.L314= Synonymous 8/14 - 1
22-18908924-C-T c.942G>A p.L314= Synonymous 8/14 - 1
22-18908926-G-A c.940C>T p.L314= Synonymous 8/14 - 2
22-18908927-G-A c.939C>T p.D313= Synonymous 8/14 - 1
22-18908951-G-A c.930-15C>T - IntronicSNV - 7/13 1
22-18909151-T-A c.930-215A>T - IntronicSNV - 7/13 1
22-18909151-T-G c.930-215A>C - IntronicSNV - 7/13 1
22-18909586-G-A c.929+252C>T - IntronicSNV - 7/13 1
22-18909839-C-T c.928G>A p.G310S Missense 7/14 - 1
22-18909846-T-A c.921A>T p.G307= Synonymous 7/14 - 3
22-18909846-T-C c.921A>G p.G307= Synonymous 7/14 - 3
22-18909846-T-G c.921A>C p.G307= Synonymous 7/14 - 3
22-18909852-G-A c.915C>T p.T305= Synonymous 7/14 - 2
22-18909861-C-A c.906G>T p.T302= Synonymous 7/14 - 1
22-18909861-C-G c.906G>C p.T302= Synonymous 7/14 - 1
22-18909861-C-T c.906G>A p.T302= Synonymous 7/14 - 1
22-18909870-G-T c.897C>A p.D299E Missense 7/14 - 1
22-18909877-A-G c.890T>C p.I297T Missense 7/14 - 1
22-18909879-C-T c.888G>A p.E296= Synonymous 7/14 - 1
22-18909881-C-G c.886G>C p.E296Q Missense 7/14 - 2
22-18909888-G-A c.879C>T p.S293= Synonymous 7/14 - 1
22-18909889-G-A c.878C>T p.S293F Missense 7/14 - 1
22-18909892-G-T c.875C>A p.A292E Missense 7/14 - 1
22-18909893-C-T c.874G>A p.A292T Missense 7/14 - 3
22-18909894-G-A c.873C>T p.I291= Synonymous 7/14 - 1
22-18909899-C-G c.868G>C p.G290R Missense 7/14 - 2
22-18909902-A-T c.865T>A p.L289M Missense 7/14 - 9
22-18909905-T-G c.862A>C p.K288Q Missense 7/14 - 1
22-18909908-C-T c.859G>A p.A287T Missense 7/14 - 1
22-18909910-A-G c.857T>C p.V286A Missense 7/14 - 1
22-18909911-C-T c.856G>A p.V286I Missense 7/14 - 1
22-18909912-A-AT c.854_855insA p.S285Rfs*12 Frameshift 7/14 - 1
22-18909913-C-G c.854G>C p.S285T Missense 7/14 - 1
22-18909914-T-TA c.852_853insT p.S285* Nonsense 7/14 - 1
22-18909913-C-CT c.853dup p.S285Kfs*12 Frameshift 7/14 - 1
22-18909916-T-C c.851A>G p.E284G Missense 7/14 - 1
22-18910257-C-T c.849+73G>A - IntronicSNV - 6/13 7
22-18910260-G-T c.849+70C>A - IntronicSNV - 6/13 1
22-18910284-AC-A c.849+45del - IntronicDeletion - 6/13 2
22-18910301-A-C c.849+29T>G - IntronicSNV - 6/13 7
22-18910301-A-G c.849+29T>C - IntronicSNV - 6/13 9
22-18910307-G-A c.849+23C>T - IntronicSNV - 6/13 9
22-18910338-C-T c.841G>A p.V281M Missense 6/14 - 1
22-18910339-C-T c.840G>A p.A280= Synonymous 6/14 - 1
22-18910340-G-A c.839C>T p.A280V Missense 6/14 - 2
22-18910341-C-T c.838G>A p.A280T Missense 6/14 - 1
22-18910347-C-T c.832G>A p.E278K Missense 6/14 - 1
22-18910355-G-A c.824C>T p.T275I Missense 6/14 - 5
22-18910355-G-T c.824C>A p.T275N Missense 6/14 - 16
22-18910357-G-A c.822C>T p.D274= Synonymous 6/14 - 3
22-18910363-G-A c.816C>T p.A272= Synonymous 6/14 - 1
22-18910363-G-C c.816C>G p.A272= Synonymous 6/14 - 1
22-18910363-G-T c.816C>A p.A272= Synonymous 6/14 - 1
22-18910367-G-T c.812C>A p.A271D Missense 6/14 - 2
22-18910380-G-T c.799C>A p.Q267K Missense 6/14 - 1
22-18910383-C-G c.796G>C p.G266R Missense 6/14 - 1
22-18910385-T-C c.794A>G p.Q265R Missense 6/14 - 1
22-18910389-C-T c.790G>A p.E264K Missense 6/14 - 1
22-18910394-G-A c.785C>T p.A262V Missense 6/14 - 1
22-18910398-T-C c.781A>G p.M261V Missense 6/14 - 1
22-18910408-G-C c.771C>G p.F257L Missense 6/14 - 1
22-18910408-G-T c.771C>A p.F257L Missense 6/14 - 1
22-18910410-A-G c.769T>C p.F257L Missense 6/14 - 1
22-18910412-C-A c.767G>T p.C256F Missense 6/14 - 1
22-18910412-CA-GC c.766_767delinsGC p.C256A Missense 6/14 - 1
22-18910415-CT-TG c.763_764delinsCA p.R255Q Missense 6/14 - 2
22-18910416-T-A c.763A>T p.R255W Missense 6/14 - 1
22-18910420-C-T c.759G>A p.K253= Synonymous 6/14 - 1
22-18910428-G-A c.751C>T p.L251= Synonymous 6/14 - 1
22-18910438-G-T c.741C>A p.F247L Missense 6/14 - 1
22-18910443-G-C c.736C>G p.Q246E Missense 6/14 - 1
22-18910444-C-A c.735G>T p.L245= Synonymous 6/14 - 1
22-18910444-C-G c.735G>C p.L245= Synonymous 6/14 - 1
22-18910444-C-T c.735G>A p.L245= Synonymous 6/14 - 1
22-18910446-G-A c.733C>T p.L245= Synonymous 6/14 - 1
22-18910479-C-T c.733-33G>A - IntronicSNV - 5/13 4
22-18910545-C-T c.732+83G>A - IntronicSNV - 5/13 5
22-18910628-C-T c.732G>A p.L244= Synonymous 5/14 - 1
22-18910632-A-C c.728T>G p.F243C Missense 5/14 - 1
22-18910630-GA-G c.729del p.L244Cfs*89 Frameshift 5/14 - 1
22-18910631-A-C c.729T>G p.F243L Missense 5/14 - 2
22-18910631-A-T c.729T>A p.F243L Missense 5/14 - 2
22-18910633-A-G c.727T>C p.F243L Missense 5/14 - 2
22-18910634-C-A c.726G>T p.Q242H Missense 5/14 - 1
22-18910639-G-T c.721C>A p.P241T Missense 5/14 - 1
22-18910640-T-C c.720A>G p.R240= Synonymous 5/14 - 1
22-18910640-TCT-ACA c.718_720delinsTGT p.R240C Missense 5/14 - 1
22-18910640-TCT-ATG c.718_720delinsCAT p.R240H Missense 5/14 - 1
22-18910642-T-G c.718A>C p.R240= Synonymous 5/14 - 1
22-18910643-C-T c.717G>A p.G239= Synonymous 5/14 - 1
22-18910644-C-T c.716G>A p.G239E Missense 5/14 - 1
22-18910647-A-G c.713T>C p.L238P Missense 5/14 - 2
22-18910663-T-G c.697A>C p.I233L Missense 5/14 - 1
22-18910675-C-A c.685G>T p.G229C Missense 5/14 - 1
22-18910678-C-A c.682G>T p.D228Y Missense 5/14 - 1
22-18910681-C-CCCCACTCCCATCTCCAGCCCTAAGCAATACTGCTGTGACATTCCATCTCCATAAATTTCCCACTT c.678_679insAAGTGGGAAATTTATGGAGATGGAATGTCACAGCAGTATTGCTTAGGGCTGGAGATGGGAGTGGG p.D227Kfs*27 Frameshift 5/14 - 1
22-18910681-C-T c.679G>A p.D227N Missense 5/14 - 2
22-18910682-G-A c.678C>T p.S226= Synonymous 5/14 - 1
22-18910686-A-G c.674T>C p.V225A Missense 5/14 - 1
22-18910756-C-G c.668-64G>C - IntronicSNV - 4/13 8
22-18910756-C-T c.668-64G>A - IntronicSNV - 4/13 8
22-18910844-A-G c.668-152T>C - IntronicSNV - 4/13 3
22-18911157-G-A c.668-465C>T - IntronicSNV - 4/13 1
22-18911333-C-A c.668-641G>T - IntronicSNV - 4/13 1
22-18912429-A-G c.667+135T>C - IntronicSNV - 4/13 1
22-18912564-C-G c.667G>C p.G223R Missense 4/14 - 1
22-18912566-G-A c.665C>T p.S222L Missense 4/14 - 1
22-18912570-C-T c.661G>A p.A221T Missense 4/14 - 1
22-18912574-G-C c.657C>G p.I219M Missense 4/14 - 1
22-18912581-C-T c.650G>A p.R217H Missense 4/14 - 2
22-18912582-G-A c.649C>T p.R217C Missense 4/14 - 5
22-18912582-G-T c.649C>A p.R217S Missense 4/14 - 1
22-18912593-T-C c.638A>G p.E213G Missense 4/14 - 1
22-18912593-T-G c.638A>C p.E213A Missense 4/14 - 2
22-18912601-G-T c.630C>A p.S210R Missense 4/14 - 1
22-18912605-T-A c.626A>T p.D209V Missense 4/14 - 1
22-18912607-G-A c.624C>T p.C208= Synonymous 4/14 - 2
22-18912610-C-T c.621G>A p.K207= Synonymous 4/14 - 3
22-18912611-T-C c.620A>G p.K207R Missense 4/14 - 3
22-18912616-C-T c.615G>A p.E205= Synonymous 4/14 - 2
22-18912617-T-G c.614A>C p.E205A Missense 4/14 - 1
22-18912620-T-C c.611A>G p.N204S Missense 4/14 - 1
22-18912630-A-G c.601T>C p.F201L Missense 4/14 - 1
22-18912631-G-A c.600C>T p.Y200= Synonymous 4/14 - 1
22-18912633-A-G c.598T>C p.Y200H Missense 4/14 - 1
22-18912634-G-A c.597C>T p.T199= Synonymous 4/14 - 1
22-18912634-G-C c.597C>G p.T199= Synonymous 4/14 - 1
22-18912634-G-T c.597C>A p.T199= Synonymous 4/14 - 1
22-18912638-C-T c.593G>A p.R198H Missense 4/14 - 6
22-18912639-G-A c.592C>T p.R198C Missense 4/14 - 2
22-18912649-G-A c.582C>T p.V194= Synonymous 4/14 - 1
22-18912651-C-T c.580G>A p.V194I Missense 4/14 - 1
22-18912653-C-T c.578G>A p.G193D Missense 4/14 - 4
22-18912654-C-T c.577G>A p.G193S Missense 4/14 - 1
22-18912655-A-C c.576T>G p.N192K Missense 4/14 - 1
22-18912655-A-T c.576T>A p.N192K Missense 4/14 - 1
22-18912658-C-A c.573G>T p.R191S Missense 4/14 - 1
22-18912658-C-G c.573G>C p.R191S Missense 4/14 - 1
22-18912659-CT-TA c.571_572delinsTA p.R191* Nonsense 4/14 - 1
22-18912661-G-A c.570C>T p.R190= Synonymous 4/14 - 1
22-18912661-G-C c.570C>G p.R190= Synonymous 4/14 - 1
22-18912661-G-T c.570C>A p.R190= Synonymous 4/14 - 1
22-18912662-C-T c.569G>A p.R190H Missense 4/14 - 3
22-18912663-G-A c.568C>T p.R190C Missense 4/14 - 2
22-18912663-G-C c.568C>G p.R190G Missense 4/14 - 1
22-18912667-C-T c.564G>A p.G188= Synonymous 4/14 - 1
22-18912670-G-A c.561C>T p.F187= Synonymous 4/14 - 2
22-18912672-A-C c.559T>G p.F187V Missense 4/14 - 1
22-18912673-G-A c.558C>T p.A186= Synonymous 4/14 - 2
22-18912673-G-C c.558C>G p.A186= Synonymous 4/14 - 2
22-18912673-G-T c.558C>A p.A186= Synonymous 4/14 - 2
22-18912677-C-T c.554G>A p.W185* Nonsense 4/14 - 10
22-18912678-A-G c.553T>C p.W185R Missense 4/14 - 37
22-18912686-T-A c.545A>T p.Q182L Missense 4/14 - 1
22-18912687-G-A c.544C>T p.Q182* Nonsense 4/14 - 3
22-18912699-C-T c.532G>A p.D178N Missense 4/14 - 3
22-18912700-C-T c.531G>A p.R177= Synonymous 4/14 - 1
22-18912701-C-A c.530G>T p.R177L Missense 4/14 - 1
22-18912701-C-T c.530G>A p.R177Q Missense 4/14 - 1
22-18912702-G-A c.529C>T p.R177W Missense 4/14 - 1
22-18912709-C-T c.522G>A p.T174= Synonymous 4/14 - 4
22-18912710-G-T c.521C>A p.T174K Missense 4/14 - 2
22-18912848-A-G c.518-135T>C - IntronicSNV - 3/13 6
22-18913199-A-G c.517+2T>C - IntronicSNV - 3/13 1
22-18913201-C-T c.517G>A p.G173S Missense 3/14 - 1
22-18913208-A-C c.510T>G p.D170E Missense 3/14 - 1
22-18913208-A-T c.510T>A p.D170E Missense 3/14 - 2
22-18913211-C-T c.507G>A p.R169= Synonymous 3/14 - 2
22-18913213-T-A c.505A>T p.R169W Missense 3/14 - 1
22-18913214-C-T c.504G>A p.E168= Synonymous 3/14 - 2
22-18913216-C-T c.502G>A p.E168K Missense 3/14 - 1
22-18913217-C-A c.501G>T p.A167= Synonymous 3/14 - 1
22-18913218-G-A c.500C>T p.A167V Missense 3/14 - 5
22-18913218-G-T c.500C>A p.A167E Missense 3/14 - 2
22-18913222-C-T c.496G>A p.A166T Missense 3/14 - 1
22-18913232-G-C c.486C>G p.S162= Synonymous 3/14 - 1
22-18913233-G-A c.485C>T p.S162F Missense 3/14 - 1
22-18913235-C-T c.483G>A p.E161= Synonymous 3/14 - 1
22-18913245-G-A c.483-10C>T - IntronicSNV - 2/13 1
22-18913245-G-T c.483-10C>A - IntronicSNV - 2/13 1
22-18913312-G-A c.483-77C>T - IntronicSNV - 2/13 2
22-18915347-C-G c.483-2112G>C - IntronicSNV - 2/13 3
22-18915347-C-T c.483-2112G>A - IntronicSNV - 2/13 3
22-18915816-T-C c.483-2581A>G - IntronicSNV - 2/13 1
22-18915963-G-A c.482+2540C>T - IntronicSNV - 2/13 1
22-18915963-G-T c.482+2540C>A - IntronicSNV - 2/13 1
22-18917031-T-C c.482+1472A>G - IntronicSNV - 2/13 2
22-18918267-C-T c.482+236G>A - IntronicSNV - 2/13 1
22-18918430-T-C c.482+73A>G - IntronicSNV - 2/13 2
22-18918506-A-G c.479T>C p.M160T Missense 2/14 - 1
22-18918512-T-C c.473A>G p.K158R Missense 2/14 - 1
22-18918515-T-C c.470A>G p.H157R Missense 2/14 - 2
22-18918515-T-G c.470A>C p.H157P Missense 2/14 - 2
22-18918518-T-A c.467A>T p.E156V Missense 2/14 - 2
22-18918525-C-G c.460G>C p.E154Q Missense 2/14 - 1
22-18918525-C-T c.460G>A p.E154K Missense 2/14 - 1
22-18918530-G-A c.455C>T p.P152L Missense 2/14 - 2
22-18918530-G-T c.455C>A p.P152H Missense 2/14 - 1
22-18918533-C-A c.452G>T p.S151I Missense 2/14 - 1
22-18918536-A-G c.449T>C p.L150P Missense 2/14 - 1
22-18918537-G-A c.448C>T p.L150= Synonymous 2/14 - 1
22-18918537-G-T c.448C>A p.L150M Missense 2/14 - 2
22-18918539-T-C c.446A>G p.D149G Missense 2/14 - 1
22-18918540-C-A c.445G>T p.D149Y Missense 2/14 - 2
22-18918543-C-T c.442G>A p.E148K Missense 2/14 - 1
22-18918553-A-G c.432T>C p.Y144= Synonymous 2/14 - 3
22-18918554-T-G c.431A>C p.Y144S Missense 2/14 - 1
22-18918557-T-C c.428A>G p.D143G Missense 2/14 - 1
22-18918559-C-A c.426G>T p.L142= Synonymous 2/14 - 2
22-18918559-C-G c.426G>C p.L142= Synonymous 2/14 - 3
22-18918559-C-T c.426G>A p.L142= Synonymous 2/14 - 2
22-18918561-G-A c.424C>T p.L142= Synonymous 2/14 - 3
22-18918567-C-T c.418G>A p.A140T Missense 2/14 - 4
22-18918568-G-A c.417C>T p.S139= Synonymous 2/14 - 2
22-18918569-C-T c.416G>A p.S139N Missense 2/14 - 2
22-18918573-C-G c.412G>C p.V138L Missense 2/14 - 1
22-18918574-A-G c.411T>C p.G137= Synonymous 2/14 - 1
22-18918576-C-T c.409G>A p.G137S Missense 2/14 - 1
22-18918577-G-A c.408C>T p.F136= Synonymous 2/14 - 1
22-18918577-G-C c.408C>G p.F136L Missense 2/14 - 1
22-18918581-G-A c.404C>T p.A135V Missense 2/14 - 1
22-18918588-A-G c.397T>C p.Y133H Missense 2/14 - 1
22-18918589-G-A c.396C>T p.H132= Synonymous 2/14 - 1
22-18918593-C-T c.392G>A p.R131Q Missense 2/14 - 1
22-18918594-G-A c.391C>T p.R131W Missense 2/14 - 1
22-18918600-G-C c.385C>G p.L129V Missense 2/14 - 1
22-18918603-G-T c.382C>A p.P128T Missense 2/14 - 1
22-18918611-G-A c.374C>T p.S125F Missense 2/14 - 1
22-18918621-C-A c.364G>T p.D122Y Missense 2/14 - 1
22-18918626-C-G c.359G>C p.G120A Missense 2/14 - 1
22-18918627-C-G c.358G>C p.G120R Missense 2/14 - 1
22-18918627-C-T c.358G>A p.G120R Missense 2/14 - 2
22-18918629-G-A c.356C>T p.A119V Missense 2/14 - 1
22-18918630-C-A c.355G>T p.A119S Missense 2/14 - 1
22-18918634-A-C c.351T>G p.F117L Missense 2/14 - 2
22-18918634-A-T c.351T>A p.F117L Missense 2/14 - 1
22-18918636-A-G c.349T>C p.F117L Missense 2/14 - 1
22-18918639-G-A c.346C>T p.H116Y Missense 2/14 - 2
22-18918644-T-A c.341A>T p.Y114F Missense 2/14 - 1
22-18918647-A-T c.338T>A p.F113Y Missense 2/14 - 1
22-18918646-G-C c.339C>G p.F113L Missense 2/14 - 2
22-18918646-G-T c.339C>A p.F113L Missense 2/14 - 2
22-18918648-A-G c.337T>C p.F113L Missense 2/14 - 2
22-18918651-T-C c.334A>G p.T112A Missense 2/14 - 1
22-18918654-T-C c.331A>G p.M111V Missense 2/14 - 4
22-18918657-T-C c.328A>G p.K110E Missense 2/14 - 1
22-18918658-C-A c.327G>T p.M109I Missense 2/14 - 1
22-18918658-C-G c.327G>C p.M109I Missense 2/14 - 1
22-18918658-C-T c.327G>A p.M109I Missense 2/14 - 1
22-18918659-A-T c.326T>A p.M109K Missense 2/14 - 1
22-18918663-G-A c.322C>T p.L108F Missense 2/14 - 1
22-18918666-T-C c.319A>G p.K107E Missense 2/14 - 2
22-18918670-G-A c.315C>T p.F105= Synonymous 2/14 - 1
22-18918676-C-G c.309G>C p.R103S Missense 2/14 - 1
22-18918676-C-T c.309G>A p.R103= Synonymous 2/14 - 1
22-18918680-T-C c.305A>G p.Q102R Missense 2/14 - 1
22-18918682-TC-GT c.302_303delinsAC p.G101D Missense 2/14 - 1
22-18918686-A-T c.299T>A p.L100Q Missense 2/14 - 1
22-18918693-T-C c.292A>G p.K98E Missense 2/14 - 1
22-18918700-AAC-CAT c.283_285delinsATG p.V95M Missense 2/14 - 1
22-18918701-A-G c.284T>C p.V95A Missense 2/14 - 1
22-18918704-T-C c.281A>G p.Y94C Missense 2/14 - 1
22-18918708-G-A c.277C>T p.L93= Synonymous 2/14 - 1
22-18918760-T-C c.274-49A>G - IntronicSNV - 1/13 5
22-18918937-G-C c.274-226C>G - IntronicSNV - 1/13 1
22-18920516-C-T c.274-1805G>A - IntronicSNV - 1/13 1
22-18921223-T-C c.273+2305A>G - IntronicSNV - 1/13 1
22-18921917-A-C c.273+1611T>G - IntronicSNV - 1/13 1
22-18921917-A-G c.273+1611T>C - IntronicSNV - 1/13 1
22-18923183-T-G c.273+345A>C - IntronicSNV - 1/13 1
22-18923383-C-T c.273+145G>A - IntronicSNV - 1/13 2
22-18923524-G-A c.273+4C>T - IntronicSNV - 1/13 2
22-18923529-T-C c.272A>G p.Q91R Missense 1/14 - 1
22-18923537-G-A c.264C>T p.R88= Synonymous 1/14 - 1
22-18923543-C-A c.258G>T p.L86= Synonymous 1/14 - 1
22-18923543-C-G c.258G>C p.L86= Synonymous 1/14 - 1
22-18923543-C-T c.258G>A p.L86= Synonymous 1/14 - 1
22-18923545-G-A c.256C>T p.L86= Synonymous 1/14 - 1
22-18923549-CGC-GAT c.250_252delinsATC p.A84I Missense 1/14 - 1
22-18923551-C-T c.250G>A p.A84T Missense 1/14 - 1
22-18923555-C-A c.246G>T p.W82C Missense 1/14 - 1
22-18923559-G-A c.242C>T p.A81V Missense 1/14 - 1
22-18923564-C-A c.237G>T p.L79F Missense 1/14 - 1
22-18923564-C-G c.237G>C p.L79F Missense 1/14 - 1
22-18923567-GCG-TCA c.232_234delinsTGA p.R78* Nonsense 1/14 - 1
22-18923583-C-T c.218G>A p.S73N Missense 1/14 - 1
22-18923585-C-G c.216G>C p.R72= Synonymous 1/14 - 3
22-18923587-G-C c.214C>G p.R72G Missense 1/14 - 1
22-18923589-G-A c.212C>T p.A71V Missense 1/14 - 1
22-18923589-G-T c.212C>A p.A71E Missense 1/14 - 1
22-18923603-T-C c.198A>G p.R66= Synonymous 1/14 - 1
22-18923603-TC-AT c.197_198delinsAT p.R66H Missense 1/14 - 1
22-18923608-G-T c.193C>A p.R65= Synonymous 1/14 - 1
22-18923610-C-T c.191G>A p.S64N Missense 1/14 - 1
22-18923611-T-C c.190A>G p.S64G Missense 1/14 - 1
22-18923613-C-T c.188G>A p.R63H Missense 1/14 - 1
22-18923614-G-A c.187C>T p.R63C Missense 1/14 - 1
22-18923616-T-C c.185A>G p.Y62C Missense 1/14 - 1
22-18923629-C-T c.172G>A p.A58T Missense 1/14 - 5
22-18923632-T-C c.169A>G p.N57D Missense 1/14 - 1
22-18923634-CC-GT c.166_167delinsAC p.G56T Missense 1/14 - 1
22-18923641-C-T c.160G>A p.D54N Missense 1/14 - 1
22-18923645-G-A c.156C>T p.A52= Synonymous 1/14 - 1
22-18923645-G-C c.156C>G p.A52= Synonymous 1/14 - 2
22-18923645-G-T c.156C>A p.A52= Synonymous 1/14 - 1
22-18923662-G-A c.139C>T p.R47W Missense 1/14 - 1
22-18923665-C-T c.136G>A p.V46M Missense 1/14 - 1
22-18923666-T-C c.135A>G p.A45= Synonymous 1/14 - 1
22-18923674-C-G c.127G>C p.A43P Missense 1/14 - 1
22-18923681-A-C c.120T>G p.G40= Synonymous 1/14 - 1
22-18923681-A-G c.120T>C p.G40= Synonymous 1/14 - 1
22-18923685-C-T c.116G>A p.G39E Missense 1/14 - 1
22-18923713-G-A c.88C>T p.P30S Missense 1/14 - 9
22-18923721-C-A c.80G>T p.R27L Missense 1/14 - 1
22-18923727-G-A c.74C>T p.A25V Missense 1/14 - 1
22-18923728-C-T c.73G>A p.A25T Missense 1/14 - 2
22-18923730-G-A c.71C>T p.P24L Missense 1/14 - 2
22-18923735-C-T c.66G>A p.T22= Synonymous 1/14 - 1
22-18923745-G-T c.56C>A p.P19Q Missense 1/14 - 23
22-18923750-G-C c.51C>G p.F17L Missense 1/14 - 1
22-18923764-AGGG-A c.34_36del p.P12del InFrameDeletion 1/14 - 1
22-18923766-G-A c.35C>T p.P12L Missense 1/14 - 1
22-18923767-G-A c.34C>T p.P12S Missense 1/14 - 1
22-18923768-GCG-CCA c.31_33delinsTGG p.R11W Missense 1/14 - 1
22-18923772-AG-GC c.28_29delinsGC p.L10A Missense 1/14 - 1
22-18923777-G-A c.24C>T p.P8= Synonymous 1/14 - 1
22-18923778-G-A c.23C>T p.P8L Missense 1/14 - 1
22-18923787-C-T c.14G>A p.R5H Missense 1/14 - 1
22-18923789-C-T c.12G>A p.R4= Synonymous 1/14 - 2
22-18923791-T-C c.10A>G p.R4G Missense 1/14 - 2
22-18923796-G-A c.5C>T p.A2V Missense 1/14 - 1