CDKAL1 CDK5 regulatory subunit associated protein 1 like 1

Canonical transcript: NM_017774

453 unique variant annotations were identified in 800 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
6-20534965-G-A c.-50+160G>A - intron_variant - 1/15 1
6-20535534-G-T c.-49-48G>T - intron_variant - 1/15 1
6-20536094-T-C c.-6+469T>C - intron_variant - 2/15 1
6-20538665-A-G c.-6+3040A>G - intron_variant - 2/15 1
6-20541519-C-T c.-5-5058C>T - IntronicSNV - 2/15 1
6-20542197-A-G c.-5-4380A>G - IntronicSNV - 2/15 3
6-20542221-G-A c.-5-4356G>A - IntronicSNV - 2/15 3
6-20543597-G-A c.-5-2980G>A - IntronicSNV - 2/15 1
6-20543597-G-C c.-5-2980G>C - IntronicSNV - 2/15 1
6-20545468-A-G c.-5-1109A>G - IntronicSNV - 2/15 1
6-20546609-CT-GC c.28_29delinsGC p.Leu10Ala Missense 3/16 - 1
6-20546697-G-A c.116G>A p.Arg39Gln Missense 3/16 - 1
6-20548864-G-T c.214G>T p.Gly72Cys Missense 4/16 - 1
6-20552683-T-G c.286+3747T>G - IntronicSNV - 4/15 1
6-20553785-G-A c.286+4849G>A - IntronicSNV - 4/15 1
6-20554951-A-C c.286+6015A>C - IntronicSNV - 4/15 2
6-20560435-A-T c.286+11499A>T - IntronicSNV - 4/15 1
6-20560528-G-T c.286+11592G>T - IntronicSNV - 4/15 1
6-20561501-C-T c.286+12565C>T - IntronicSNV - 4/15 1
6-20566456-G-A c.286+17520G>A - IntronicSNV - 4/15 2
6-20566456-G-C c.286+17520G>C - IntronicSNV - 4/15 2
6-20570039-C-T c.286+21103C>T - IntronicSNV - 4/15 2
6-20570142-A-G c.286+21206A>G - IntronicSNV - 4/15 1
6-20570142-A-T c.286+21206A>T - IntronicSNV - 4/15 1
6-20571135-G-A c.286+22199G>A - IntronicSNV - 4/15 1
6-20571135-G-C c.286+22199G>C - IntronicSNV - 4/15 1
6-20577769-A-G c.286+28833A>G - IntronicSNV - 4/15 1
6-20578852-C-T c.286+29916C>T - IntronicSNV - 4/15 1
6-20579123-G-A c.286+30187G>A - IntronicSNV - 4/15 1
6-20580196-C-A c.286+31260C>A - IntronicSNV - 4/15 1
6-20580196-C-T c.286+31260C>T - IntronicSNV - 4/15 1
6-20589341-G-A c.286+40405G>A - IntronicSNV - 4/15 1
6-20589762-T-C c.286+40826T>C - IntronicSNV - 4/15 2
6-20592984-C-T c.286+44048C>T - IntronicSNV - 4/15 2
6-20599628-C-T c.287-49896C>T - IntronicSNV - 4/15 3
6-20599888-C-T c.287-49636C>T - IntronicSNV - 4/15 2
6-20601785-C-T c.287-47739C>T - IntronicSNV - 4/15 1
6-20602940-G-A c.287-46584G>A - IntronicSNV - 4/15 1
6-20605945-T-G c.287-43579T>G - IntronicSNV - 4/15 1
6-20607724-A-G c.287-41800A>G - IntronicSNV - 4/15 1
6-20609241-G-A c.287-40283G>A - IntronicSNV - 4/15 2
6-20609451-T-C c.287-40073T>C - IntronicSNV - 4/15 1
6-20609451-T-G c.287-40073T>G - IntronicSNV - 4/15 1
6-20611926-A-G c.287-37598A>G - IntronicSNV - 4/15 2
6-20611926-A-T c.287-37598A>T - IntronicSNV - 4/15 2
6-20613216-A-G c.287-36308A>G - IntronicSNV - 4/15 1
6-20621238-T-C c.287-28286T>C - IntronicSNV - 4/15 8
6-20622753-C-T c.287-26771C>T - IntronicSNV - 4/15 3
6-20623084-T-C c.287-26440T>C - IntronicSNV - 4/15 1
6-20623205-T-C c.287-26319T>C - IntronicSNV - 4/15 1
6-20623392-T-A c.287-26132T>A - IntronicSNV - 4/15 2
6-20623392-T-C c.287-26132T>C - IntronicSNV - 4/15 2
6-20623401-T-G c.287-26123T>G - IntronicSNV - 4/15 1
6-20623605-T-C c.287-25919T>C - IntronicSNV - 4/15 1
6-20623971-G-A c.287-25553G>A - IntronicSNV - 4/15 1
6-20624034-T-A c.287-25490T>A - IntronicSNV - 4/15 3
6-20624034-T-C c.287-25490T>C - IntronicSNV - 4/15 3
6-20624358-T-C c.287-25166T>C - IntronicSNV - 4/15 3
6-20624382-A-C c.287-25142A>C - IntronicSNV - 4/15 1
6-20624382-A-G c.287-25142A>G - IntronicSNV - 4/15 1
6-20625267-T-A c.287-24257T>A - IntronicSNV - 4/15 1
6-20625267-T-C c.287-24257T>C - IntronicSNV - 4/15 1
6-20625491-G-T c.287-24033G>T - IntronicSNV - 4/15 1
6-20625634-A-G c.287-23890A>G - IntronicSNV - 4/15 2
6-20626382-A-G c.287-23142A>G - IntronicSNV - 4/15 1
6-20626382-A-T c.287-23142A>T - IntronicSNV - 4/15 1
6-20626409-A-G c.287-23115A>G - IntronicSNV - 4/15 2
6-20626409-A-T c.287-23115A>T - IntronicSNV - 4/15 2
6-20629858-G-C c.287-19666G>C - IntronicSNV - 4/15 1
6-20630081-A-G c.287-19443A>G - IntronicSNV - 4/15 1
6-20630472-G-A c.287-19052G>A - IntronicSNV - 4/15 1
6-20630953-G-T c.287-18571G>T - IntronicSNV - 4/15 1
6-20631545-A-T c.287-17979A>T - IntronicSNV - 4/15 1
6-20631953-C-A c.287-17571C>A - IntronicSNV - 4/15 3
6-20637306-T-C c.287-12218T>C - IntronicSNV - 4/15 1
6-20639604-G-A c.287-9920G>A - IntronicSNV - 4/15 1
6-20639604-G-C c.287-9920G>C - IntronicSNV - 4/15 1
6-20640871-T-C c.287-8653T>C - IntronicSNV - 4/15 1
6-20641336-C-T c.287-8188C>T - IntronicSNV - 4/15 7
6-20643752-A-G c.287-5772A>G - IntronicSNV - 4/15 4
6-20643752-A-T c.287-5772A>T - IntronicSNV - 4/15 4
6-20646070-C-A c.287-3454C>A - IntronicSNV - 4/15 1
6-20646070-C-T c.287-3454C>T - IntronicSNV - 4/15 1
6-20647660-G-A c.287-1864G>A - IntronicSNV - 4/15 1
6-20647660-G-T c.287-1864G>T - IntronicSNV - 4/15 1
6-20649254-A-T c.287-270A>T - IntronicSNV - 4/15 1
6-20649534-C-T c.297C>T p.Ser99Ser Synonymous 5/16 - 2
6-20652717-C-G c.371+3109C>G - IntronicSNV - 5/15 14
6-20652717-C-T c.371+3109C>T - IntronicSNV - 5/15 14
6-20652765-A-G c.371+3157A>G - IntronicSNV - 5/15 4
6-20652765-A-T c.371+3157A>T - IntronicSNV - 5/15 4
6-20653550-G-A c.371+3942G>A - IntronicSNV - 5/15 1
6-20653550-G-C c.371+3942G>C - IntronicSNV - 5/15 1
6-20654897-T-C c.371+5289T>C - IntronicSNV - 5/15 1
6-20655110-A-C c.371+5502A>C - IntronicSNV - 5/15 1
6-20655110-A-G c.371+5502A>G - IntronicSNV - 5/15 1
6-20656800-C-G c.371+7192C>G - IntronicSNV - 5/15 4
6-20657345-T-C c.371+7737T>C - IntronicSNV - 5/15 2
6-20657564-A-G c.371+7956A>G - IntronicSNV - 5/15 63
6-20657865-A-G c.371+8257A>G - IntronicSNV - 5/15 25
6-20658012-A-C c.371+8404A>C - IntronicSNV - 5/15 3
6-20658978-A-C c.371+9370A>C - IntronicSNV - 5/15 1
6-20658978-A-G c.371+9370A>G - IntronicSNV - 5/15 1
6-20659459-G-A c.371+9851G>A - IntronicSNV - 5/15 5
6-20659587-T-A c.371+9979T>A - IntronicSNV - 5/15 5
6-20659806-T-C c.371+10198T>C - IntronicSNV - 5/15 12
6-20660365-T-A c.371+10757T>A - IntronicSNV - 5/15 4
6-20660365-T-C c.371+10757T>C - IntronicSNV - 5/15 4
6-20660365-T-G c.371+10757T>G - IntronicSNV - 5/15 4
6-20660690-G-A c.371+11082G>A - IntronicSNV - 5/15 1
6-20660693-A-T c.371+11085A>T - IntronicSNV - 5/15 1
6-20660731-T-C c.371+11123T>C - IntronicSNV - 5/15 1
6-20661034-A-C c.371+11426A>C - IntronicSNV - 5/15 156
6-20661143-T-A c.371+11535T>A - IntronicSNV - 5/15 4
6-20661250-G-A c.371+11642G>A - IntronicSNV - 5/15 247
6-20661250-G-C c.371+11642G>C - IntronicSNV - 5/15 247
6-20661250-G-T c.371+11642G>T - IntronicSNV - 5/15 247
6-20661529-G-A c.371+11921G>A - IntronicSNV - 5/15 5
6-20661529-G-T c.371+11921G>T - IntronicSNV - 5/15 5
6-20661550-T-A c.371+11942T>A - IntronicSNV - 5/15 3
6-20661550-T-C c.371+11942T>C - IntronicSNV - 5/15 3
6-20661837-C-A c.371+12229C>A - IntronicSNV - 5/15 1
6-20662113-A-G c.371+12505A>G - IntronicSNV - 5/15 1
6-20662217-T-C c.371+12609T>C - IntronicSNV - 5/15 2
6-20662217-T-G c.371+12609T>G - IntronicSNV - 5/15 2
6-20662592-G-A c.371+12984G>A - IntronicSNV - 5/15 1
6-20662966-C-G c.371+13358C>G - IntronicSNV - 5/15 5
6-20662966-C-T c.371+13358C>T - IntronicSNV - 5/15 5
6-20663035-T-A c.371+13427T>A - IntronicSNV - 5/15 7
6-20663335-G-A c.371+13727G>A - IntronicSNV - 5/15 4
6-20663632-T-G c.371+14024T>G - IntronicSNV - 5/15 18
6-20664100-C-T c.371+14492C>T - IntronicSNV - 5/15 1
6-20664312-A-G c.371+14704A>G - IntronicSNV - 5/15 2
6-20665081-G-A c.371+15473G>A - IntronicSNV - 5/15 2
6-20665549-G-A c.371+15941G>A - IntronicSNV - 5/15 3
6-20665946-T-C c.371+16338T>C - IntronicSNV - 5/15 9
6-20666022-G-A c.371+16414G>A - IntronicSNV - 5/15 4
6-20666055-G-A c.371+16447G>A - IntronicSNV - 5/15 3
6-20666244-A-G c.371+16636A>G - IntronicSNV - 5/15 1
6-20666244-A-T c.371+16636A>T - IntronicSNV - 5/15 1
6-20666246-A-G c.371+16638A>G - IntronicSNV - 5/15 1
6-20666457-T-C c.371+16849T>C - IntronicSNV - 5/15 1
6-20667382-T-C c.371+17774T>C - IntronicSNV - 5/15 4
6-20667688-C-T c.371+18080C>T - IntronicSNV - 5/15 1
6-20673154-C-A c.371+23546C>A - IntronicSNV - 5/15 1
6-20673154-C-T c.371+23546C>T - IntronicSNV - 5/15 1
6-20673880-T-C c.371+24272T>C - IntronicSNV - 5/15 7
6-20675295-A-G c.371+25687A>G - IntronicSNV - 5/15 3
6-20675792-C-A c.371+26184C>A - IntronicSNV - 5/15 10
6-20677310-G-T c.371+27702G>T - IntronicSNV - 5/15 1
6-20678430-G-C c.371+28822G>C - IntronicSNV - 5/15 4
6-20678430-G-T c.371+28822G>T - IntronicSNV - 5/15 4
6-20679310-T-G c.371+29702T>G - IntronicSNV - 5/15 3
6-20679709-A-G c.371+30101A>G - IntronicSNV - 5/15 202
6-20679709-A-T c.371+30101A>T - IntronicSNV - 5/15 202
6-20680678-T-A c.371+31070T>A - IntronicSNV - 5/15 4
6-20682622-T-C c.371+33014T>C - IntronicSNV - 5/15 2
6-20683164-G-A c.371+33556G>A - IntronicSNV - 5/15 2
6-20683164-G-C c.371+33556G>C - IntronicSNV - 5/15 2
6-20683164-G-T c.371+33556G>T - IntronicSNV - 5/15 2
6-20683982-T-A c.371+34374T>A - IntronicSNV - 5/15 1
6-20683982-T-G c.371+34374T>G - IntronicSNV - 5/15 1
6-20685486-T-C c.371+35878T>C - IntronicSNV - 5/15 28
6-20686573-C-A c.371+36965C>A - IntronicSNV - 5/15 20
6-20686878-C-T c.371+37270C>T - IntronicSNV - 5/15 2
6-20686996-C-A c.371+37388C>A - IntronicSNV - 5/15 50
6-20686996-C-T c.371+37388C>T - IntronicSNV - 5/15 50
6-20687802-G-A c.371+38194G>A - IntronicSNV - 5/15 1
6-20687802-G-C c.371+38194G>C - IntronicSNV - 5/15 1
6-20687802-G-T c.371+38194G>T - IntronicSNV - 5/15 1
6-20688121-T-A c.371+38513T>A - IntronicSNV - 5/15 45
6-20688121-T-G c.371+38513T>G - IntronicSNV - 5/15 45
6-20689945-G-A c.371+40337G>A - IntronicSNV - 5/15 5
6-20689945-G-T c.371+40337G>T - IntronicSNV - 5/15 5
6-20694884-C-T c.372-44866C>T - IntronicSNV - 5/15 42
6-20700123-T-A c.372-39627T>A - IntronicSNV - 5/15 1
6-20703952-A-G c.372-35798A>G - IntronicSNV - 5/15 36
6-20705590-T-G c.372-34160T>G - IntronicSNV - 5/15 1
6-20711739-C-G c.372-28011C>G - IntronicSNV - 5/15 1
6-20711739-C-T c.372-28011C>T - IntronicSNV - 5/15 1
6-20712461-C-G c.372-27289C>G - IntronicSNV - 5/15 1
6-20712461-C-T c.372-27289C>T - IntronicSNV - 5/15 1
6-20713706-A-G c.372-26044A>G - IntronicSNV - 5/15 2
6-20716253-G-A c.372-23497G>A - IntronicSNV - 5/15 1
6-20717095-A-G c.372-22655A>G - IntronicSNV - 5/15 1
6-20717255-T-C c.372-22495T>C - IntronicSNV - 5/15 57
6-20717404-A-G c.372-22346A>G - IntronicSNV - 5/15 7
6-20718240-A-T c.372-21510A>T - IntronicSNV - 5/15 6
6-20719145-A-G c.372-20605A>G - IntronicSNV - 5/15 1
6-20719232-T-A c.372-20518T>A - IntronicSNV - 5/15 1
6-20719561-G-A c.372-20189G>A - IntronicSNV - 5/15 2
6-20720279-T-C c.372-19471T>C - IntronicSNV - 5/15 1
6-20723057-T-C c.372-16693T>C - IntronicSNV - 5/15 1
6-20724558-T-G c.372-15192T>G - IntronicSNV - 5/15 2
6-20725007-T-A c.372-14743T>A - IntronicSNV - 5/15 2
6-20725097-T-A c.372-14653T>A - IntronicSNV - 5/15 2
6-20725240-T-C c.372-14510T>C - IntronicSNV - 5/15 9
6-20725423-G-C c.372-14327G>C - IntronicSNV - 5/15 17
6-20728513-C-T c.372-11237C>T - IntronicSNV - 5/15 3
6-20728731-T-C c.372-11019T>C - IntronicSNV - 5/15 89
6-20730060-G-A c.372-9690G>A - IntronicSNV - 5/15 1
6-20731524-A-C c.372-8226A>C - IntronicSNV - 5/15 6
6-20731524-A-T c.372-8226A>T - IntronicSNV - 5/15 6
6-20733389-G-A c.372-6361G>A - IntronicSNV - 5/15 3
6-20733454-C-G c.372-6296C>G - IntronicSNV - 5/15 1
6-20734994-A-C c.372-4756A>C - IntronicSNV - 5/15 1
6-20734994-A-G c.372-4756A>G - IntronicSNV - 5/15 1
6-20736038-T-A c.372-3712T>A - IntronicSNV - 5/15 1
6-20737354-C-T c.372-2396C>T - IntronicSNV - 5/15 1
6-20740296-C-T c.468+450C>T - IntronicSNV - 6/15 2
6-20743952-T-A c.468+4106T>A - IntronicSNV - 6/15 1
6-20743952-T-C c.468+4106T>C - IntronicSNV - 6/15 1
6-20744727-C-T c.468+4881C>T - IntronicSNV - 6/15 1
6-20745074-G-T c.468+5228G>T - IntronicSNV - 6/15 1
6-20746236-C-A c.468+6390C>A - IntronicSNV - 6/15 3
6-20751315-T-C c.469-7511T>C - IntronicSNV - 6/15 3
6-20753441-C-T c.469-5385C>T - IntronicSNV - 6/15 1
6-20758633-A-G c.469-193A>G - IntronicSNV - 6/15 1
6-20758760-A-G c.469-66A>G - IntronicSNV - 6/15 1
6-20758760-A-T c.469-66A>T - IntronicSNV - 6/15 1
6-20758943-G-T c.517+69G>T - IntronicSNV - 7/15 2
6-20759577-A-G c.517+703A>G - IntronicSNV - 7/15 1
6-20761080-C-T c.517+2206C>T - IntronicSNV - 7/15 1
6-20761335-A-G c.517+2461A>G - IntronicSNV - 7/15 1
6-20763171-G-A c.517+4297G>A - IntronicSNV - 7/15 3
6-20764250-C-T c.517+5376C>T - IntronicSNV - 7/15 1
6-20766697-C-A c.517+7823C>A - IntronicSNV - 7/15 8
6-20772818-C-T c.518-8558C>T - IntronicSNV - 7/15 2
6-20774759-G-A c.518-6617G>A - IntronicSNV - 7/15 1
6-20790477-C-T c.638+8981C>T - IntronicSNV - 8/15 1
6-20791712-C-T c.638+10216C>T - IntronicSNV - 8/15 1
6-20794625-T-C c.638+13129T>C - IntronicSNV - 8/15 2
6-20797851-G-A c.638+16355G>A - IntronicSNV - 8/15 1
6-20804563-T-C c.638+23067T>C - IntronicSNV - 8/15 2
6-20807130-G-A c.638+25634G>A - IntronicSNV - 8/15 2
6-20807130-G-T c.638+25634G>T - IntronicSNV - 8/15 2
6-20808742-G-T c.638+27246G>T - IntronicSNV - 8/15 1
6-20812588-G-A c.638+31092G>A - IntronicSNV - 8/15 29
6-20813375-G-C c.638+31879G>C - IntronicSNV - 8/15 2
6-20815260-C-T c.639-31046C>T - IntronicSNV - 8/15 1
6-20819976-C-T c.639-26330C>T - IntronicSNV - 8/15 1
6-20821662-T-C c.639-24644T>C - IntronicSNV - 8/15 2
6-20825018-T-C c.639-21288T>C - IntronicSNV - 8/15 3
6-20840671-A-T c.639-5635A>T - IntronicSNV - 8/15 1
6-20844151-G-A c.639-2155G>A - IntronicSNV - 8/15 1
6-20844741-A-C c.639-1565A>C - IntronicSNV - 8/15 1
6-20844741-A-G c.639-1565A>G - IntronicSNV - 8/15 1
6-20855005-T-G c.742+8596T>G - IntronicSNV - 9/15 2
6-20856703-A-G c.742+10294A>G - IntronicSNV - 9/15 2
6-20865629-A-G c.742+19220A>G - IntronicSNV - 9/15 1
6-20866857-C-G c.742+20448C>G - IntronicSNV - 9/15 1
6-20866857-C-T c.742+20448C>T - IntronicSNV - 9/15 1
6-20869480-G-A c.742+23071G>A - IntronicSNV - 9/15 1
6-20870093-T-C c.742+23684T>C - IntronicSNV - 9/15 2
6-20873848-A-G c.742+27439A>G - IntronicSNV - 9/15 1
6-20876613-G-A c.742+30204G>A - IntronicSNV - 9/15 1
6-20882175-C-T c.742+35766C>T - IntronicSNV - 9/15 1
6-20887954-G-A c.742+41545G>A - IntronicSNV - 9/15 1
6-20887954-G-T c.742+41545G>T - IntronicSNV - 9/15 1
6-20898249-T-A c.742+51840T>A - IntronicSNV - 9/15 2
6-20898249-T-G c.742+51840T>G - IntronicSNV - 9/15 2
6-20900228-C-G c.742+53819C>G - IntronicSNV - 9/15 1
6-20900228-C-T c.742+53819C>T - IntronicSNV - 9/15 1
6-20901232-A-T c.743-54418A>T - IntronicSNV - 9/15 1
6-20901311-A-G c.743-54339A>G - IntronicSNV - 9/15 2
6-20907881-A-G c.743-47769A>G - IntronicSNV - 9/15 1
6-20911003-G-A c.743-44647G>A - IntronicSNV - 9/15 2
6-20912672-C-G c.743-42978C>G - IntronicSNV - 9/15 1
6-20914329-G-A c.743-41321G>A - IntronicSNV - 9/15 1
6-20918251-A-G c.743-37399A>G - IntronicSNV - 9/15 2
6-20920123-A-G c.743-35527A>G - IntronicSNV - 9/15 2
6-20920451-G-A c.743-35199G>A - IntronicSNV - 9/15 1
6-20920979-G-A c.743-34671G>A - IntronicSNV - 9/15 1
6-20922268-C-T c.743-33382C>T - IntronicSNV - 9/15 1
6-20922728-G-A c.743-32922G>A - IntronicSNV - 9/15 3
6-20922863-C-T c.743-32787C>T - IntronicSNV - 9/15 1
6-20930113-G-C c.743-25537G>C - IntronicSNV - 9/15 2
6-20933677-C-T c.743-21973C>T - IntronicSNV - 9/15 1
6-20935012-A-G c.743-20638A>G - IntronicSNV - 9/15 1
6-20938606-C-G c.743-17044C>G - IntronicSNV - 9/15 1
6-20938606-C-T c.743-17044C>T - IntronicSNV - 9/15 1
6-20938921-G-A c.743-16729G>A - IntronicSNV - 9/15 2
6-20939380-G-A c.743-16270G>A - IntronicSNV - 9/15 2
6-20939790-G-A c.743-15860G>A - IntronicSNV - 9/15 1
6-20940379-C-T c.743-15271C>T - IntronicSNV - 9/15 1
6-20940761-T-G c.743-14889T>G - IntronicSNV - 9/15 2
6-20943232-T-A c.743-12418T>A - IntronicSNV - 9/15 1
6-20943232-T-C c.743-12418T>C - IntronicSNV - 9/15 1
6-20945956-G-C c.743-9694G>C - IntronicSNV - 9/15 2
6-20945956-G-T c.743-9694G>T - IntronicSNV - 9/15 2
6-20948493-T-A c.743-7157T>A - IntronicSNV - 9/15 1
6-20948493-T-C c.743-7157T>C - IntronicSNV - 9/15 1
6-20953919-G-A c.743-1731G>A - IntronicSNV - 9/15 1
6-20954826-G-A c.743-824G>A - IntronicSNV - 9/15 3
6-20954826-G-T c.743-824G>T - IntronicSNV - 9/15 3
6-20955332-T-C c.743-318T>C - IntronicSNV - 9/15 4
6-20955332-T-G c.743-318T>G - IntronicSNV - 9/15 4
6-20959335-T-C c.909+3519T>C - IntronicSNV - 10/15 1
6-20960932-C-T c.909+5116C>T - IntronicSNV - 10/15 1
6-20961061-G-A c.909+5245G>A - IntronicSNV - 10/15 4
6-20963608-T-C c.909+7792T>C - IntronicSNV - 10/15 2
6-20964683-C-T c.909+8867C>T - IntronicSNV - 10/15 1
6-20969737-T-C c.909+13921T>C - IntronicSNV - 10/15 1
6-20971026-T-C c.909+15210T>C - IntronicSNV - 10/15 1
6-20977674-G-C c.909+21858G>C - IntronicSNV - 10/15 1
6-20979581-C-A c.910-20877C>A - IntronicSNV - 10/15 1
6-20979581-C-G c.910-20877C>G - IntronicSNV - 10/15 1
6-20981435-G-A c.910-19023G>A - IntronicSNV - 10/15 1
6-20981637-G-C c.910-18821G>C - IntronicSNV - 10/15 1
6-20982605-G-A c.910-17853G>A - IntronicSNV - 10/15 1
6-20985338-G-A c.910-15120G>A - IntronicSNV - 10/15 1
6-20985338-G-T c.910-15120G>T - IntronicSNV - 10/15 1
6-20986130-C-T c.910-14328C>T - IntronicSNV - 10/15 2
6-20987675-G-A c.910-12783G>A - IntronicSNV - 10/15 1
6-20989286-A-G c.910-11172A>G - IntronicSNV - 10/15 1
6-20994398-T-C c.910-6060T>C - IntronicSNV - 10/15 2
6-20996312-G-A c.910-4146G>A - IntronicSNV - 10/15 1
6-20999387-A-G c.910-1071A>G - IntronicSNV - 10/15 2
6-20999387-A-T c.910-1071A>T - IntronicSNV - 10/15 2
6-21000494-G-A c.946G>A p.Ala316Thr Missense 11/16 - 1
6-21005146-T-C c.1055+4543T>C - IntronicSNV - 11/15 1
6-21006662-A-G c.1055+6059A>G - IntronicSNV - 11/15 1
6-21008153-C-T c.1055+7550C>T - IntronicSNV - 11/15 3
6-21009108-G-A c.1055+8505G>A - IntronicSNV - 11/15 2
6-21009888-A-G c.1055+9285A>G - IntronicSNV - 11/15 2
6-21010568-A-T c.1055+9965A>T - IntronicSNV - 11/15 1
6-21016532-T-G c.1055+15929T>G - IntronicSNV - 11/15 4
6-21018655-C-T c.1055+18052C>T - IntronicSNV - 11/15 1
6-21023748-A-C c.1055+23145A>C - IntronicSNV - 11/15 1
6-21023748-A-G c.1055+23145A>G - IntronicSNV - 11/15 1
6-21024102-G-A c.1055+23499G>A - IntronicSNV - 11/15 2
6-21027761-G-T c.1055+27158G>T - IntronicSNV - 11/15 2
6-21031079-A-G c.1055+30476A>G - IntronicSNV - 11/15 2
6-21032682-T-A c.1055+32079T>A - IntronicSNV - 11/15 1
6-21032682-T-C c.1055+32079T>C - IntronicSNV - 11/15 1
6-21033965-T-C c.1056-31314T>C - IntronicSNV - 11/15 1
6-21037614-A-G c.1056-27665A>G - IntronicSNV - 11/15 1
6-21037940-C-A c.1056-27339C>A - IntronicSNV - 11/15 1
6-21038835-G-A c.1056-26444G>A - IntronicSNV - 11/15 1
6-21039951-A-C c.1056-25328A>C - IntronicSNV - 11/15 1
6-21039951-A-G c.1056-25328A>G - IntronicSNV - 11/15 1
6-21040377-G-A c.1056-24902G>A - IntronicSNV - 11/15 1
6-21043852-C-T c.1056-21427C>T - IntronicSNV - 11/15 1
6-21065287-GA-AC c.1064_1065delinsAC p.Gly355Asp Missense 12/16 - 1
6-21065422-CT-AG c.1199_1200inv p.Thr400Lys Missense 12/16 - 1
6-21065449-C-A c.1226C>A p.Pro409Gln Missense 12/16 - 2
6-21065449-C-G c.1226C>G p.Pro409Arg Missense 12/16 - 2
6-21065449-C-T c.1226C>T p.Pro409Leu Missense 12/16 - 3
6-21065450-A-G c.1227A>G p.Pro409Pro Synonymous 12/16 - 1
6-21065826-T-A c.1236+367T>A - IntronicSNV - 12/15 2
6-21065826-T-C c.1236+367T>C - IntronicSNV - 12/15 2
6-21066710-G-A c.1236+1251G>A - IntronicSNV - 12/15 1
6-21073029-G-A c.1236+7570G>A - IntronicSNV - 12/15 1
6-21074193-G-A c.1236+8734G>A - IntronicSNV - 12/15 1
6-21074193-G-T c.1236+8734G>T - IntronicSNV - 12/15 1
6-21076048-C-T c.1236+10589C>T - IntronicSNV - 12/15 3
6-21076267-T-A c.1236+10808T>A - IntronicSNV - 12/15 1
6-21076267-T-C c.1236+10808T>C - IntronicSNV - 12/15 1
6-21076620-G-A c.1236+11161G>A - IntronicSNV - 12/15 1
6-21079573-T-C c.1236+14114T>C - IntronicSNV - 12/15 1
6-21079648-G-T c.1236+14189G>T - IntronicSNV - 12/15 2
6-21086785-G-A c.1236+21326G>A - IntronicSNV - 12/15 1
6-21088082-C-T c.1237-20550C>T - IntronicSNV - 12/15 1
6-21088856-G-A c.1237-19776G>A - IntronicSNV - 12/15 1
6-21088856-G-C c.1237-19776G>C - IntronicSNV - 12/15 1
6-21088856-G-T c.1237-19776G>T - IntronicSNV - 12/15 1
6-21090622-C-A c.1237-18010C>A - IntronicSNV - 12/15 1
6-21095142-T-G c.1237-13490T>G - IntronicSNV - 12/15 1
6-21100044-A-G c.1237-8588A>G - IntronicSNV - 12/15 2
6-21103457-C-T c.1237-5175C>T - IntronicSNV - 12/15 1
6-21103825-G-A c.1237-4807G>A - IntronicSNV - 12/15 1
6-21103825-G-C c.1237-4807G>C - IntronicSNV - 12/15 1
6-21104159-G-T c.1237-4473G>T - IntronicSNV - 12/15 1
6-21107109-C-T c.1237-1523C>T - IntronicSNV - 12/15 2
6-21108191-T-C c.1237-441T>C - IntronicSNV - 12/15 1
6-21110928-G-A c.1299+2234G>A - IntronicSNV - 13/15 1
6-21115024-T-A c.1299+6330T>A - IntronicSNV - 13/15 1
6-21115209-T-A c.1299+6515T>A - IntronicSNV - 13/15 1
6-21115209-T-C c.1299+6515T>C - IntronicSNV - 13/15 1
6-21115316-A-G c.1299+6622A>G - IntronicSNV - 13/15 1
6-21117606-C-T c.1299+8912C>T - IntronicSNV - 13/15 1
6-21118239-G-C c.1299+9545G>C - IntronicSNV - 13/15 1
6-21118239-G-T c.1299+9545G>T - IntronicSNV - 13/15 1
6-21119130-A-G c.1299+10436A>G - IntronicSNV - 13/15 1
6-21120769-A-G c.1299+12075A>G - IntronicSNV - 13/15 1
6-21123920-A-G c.1299+15226A>G - IntronicSNV - 13/15 1
6-21123920-A-T c.1299+15226A>T - IntronicSNV - 13/15 1
6-21123988-A-G c.1299+15294A>G - IntronicSNV - 13/15 1
6-21124521-T-C c.1299+15827T>C - IntronicSNV - 13/15 2
6-21127312-G-C c.1299+18618G>C - IntronicSNV - 13/15 1
6-21127312-G-T c.1299+18618G>T - IntronicSNV - 13/15 1
6-21128064-A-G c.1299+19370A>G - IntronicSNV - 13/15 1
6-21130870-A-G c.1299+22176A>G - IntronicSNV - 13/15 2
6-21130870-A-T c.1299+22176A>T - IntronicSNV - 13/15 2
6-21131312-C-A c.1299+22618C>A - IntronicSNV - 13/15 1
6-21131312-C-T c.1299+22618C>T - IntronicSNV - 13/15 1
6-21135158-A-T c.1299+26464A>T - IntronicSNV - 13/15 1
6-21136120-G-A c.1299+27426G>A - IntronicSNV - 13/15 1
6-21138100-G-A c.1299+29406G>A - IntronicSNV - 13/15 1
6-21140299-A-C c.1299+31605A>C - IntronicSNV - 13/15 1
6-21140299-A-G c.1299+31605A>G - IntronicSNV - 13/15 1
6-21140299-A-T c.1299+31605A>T - IntronicSNV - 13/15 1
6-21140486-A-G c.1299+31792A>G - IntronicSNV - 13/15 2
6-21144010-T-A c.1299+35316T>A - IntronicSNV - 13/15 1
6-21149064-A-G c.1299+40370A>G - IntronicSNV - 13/15 2
6-21150224-G-A c.1299+41530G>A - IntronicSNV - 13/15 1
6-21150457-G-A c.1299+41763G>A - IntronicSNV - 13/15 1
6-21154796-G-A c.1300-43456G>A - IntronicSNV - 13/15 1
6-21157093-A-G c.1300-41159A>G - IntronicSNV - 13/15 1
6-21157173-C-T c.1300-41079C>T - IntronicSNV - 13/15 1
6-21160382-G-A c.1300-37870G>A - IntronicSNV - 13/15 1
6-21160382-G-T c.1300-37870G>T - IntronicSNV - 13/15 1
6-21160421-G-A c.1300-37831G>A - IntronicSNV - 13/15 1
6-21160447-C-T c.1300-37805C>T - IntronicSNV - 13/15 2
6-21163919-T-C c.1300-34333T>C - IntronicSNV - 13/15 4
6-21165278-G-A c.1300-32974G>A - IntronicSNV - 13/15 2
6-21166705-A-G c.1300-31547A>G - IntronicSNV - 13/15 1
6-21178282-T-C c.1300-19970T>C - IntronicSNV - 13/15 1
6-21182978-A-G c.1300-15274A>G - IntronicSNV - 13/15 2
6-21182988-G-A c.1300-15264G>A - IntronicSNV - 13/15 1
6-21182988-G-C c.1300-15264G>C - IntronicSNV - 13/15 1
6-21183554-C-T c.1300-14698C>T - IntronicSNV - 13/15 1
6-21189988-T-C c.1300-8264T>C - IntronicSNV - 13/15 1
6-21198083-G-A c.1300-169G>A - IntronicSNV - 13/15 1
6-21200282-A-G c.1384-1059A>G - IntronicSNV - 14/15 3
6-21200282-A-T c.1384-1059A>T - IntronicSNV - 14/15 3
6-21200390-T-C c.1384-951T>C - IntronicSNV - 14/15 4
6-21201493-G-A c.1536G>A p.Ser512Ser Synonymous 15/16 - 7
6-21202154-T-G c.1548+649T>G - IntronicSNV - 15/15 1
6-21204796-G-A c.1548+3291G>A - IntronicSNV - 15/15 2
6-21204822-T-C c.1548+3317T>C - IntronicSNV - 15/15 1
6-21208429-G-A c.1548+6924G>A - IntronicSNV - 15/15 3
6-21211797-C-T c.1548+10292C>T - IntronicSNV - 15/15 1
6-21213307-G-A c.1548+11802G>A - IntronicSNV - 15/15 1
6-21213554-G-T c.1548+12049G>T - IntronicSNV - 15/15 1
6-21215836-G-A c.1548+14331G>A - IntronicSNV - 15/15 1
6-21216746-C-T c.1549-14333C>T - IntronicSNV - 15/15 1
6-21217185-G-A c.1549-13894G>A - IntronicSNV - 15/15 1
6-21218670-C-A c.1549-12409C>A - IntronicSNV - 15/15 2
6-21218670-C-G c.1549-12409C>G - IntronicSNV - 15/15 2
6-21219437-G-A c.1549-11642G>A - IntronicSNV - 15/15 1
6-21222751-T-C c.1549-8328T>C - IntronicSNV - 15/15 1
6-21223140-C-T c.1549-7939C>T - IntronicSNV - 15/15 1
6-21224293-C-T c.1549-6786C>T - IntronicSNV - 15/15 1
6-21225577-G-A c.1549-5502G>A - IntronicSNV - 15/15 2
6-21227803-G-A c.1549-3276G>A - IntronicSNV - 15/15 1
6-21231007-G-A c.1549-72G>A - IntronicSNV - 15/15 2
6-21231160-AG-GA c.1630_1631delinsGA p.Arg544Glu Missense 16/16 - 1
6-21231212-C-G c.1682C>G p.Ser561Cys Missense 16/16 - 1
6-21231212-C-T c.1682C>T p.Ser561Phe Missense 16/16 - 1
6-21231474-C-G c.*204C>G - 3-UTRSNV 16/16 - 1
6-21231474-C-T c.*204C>T - 3-UTRSNV 16/16 - 1
6-21231882-A-T c.*612A>T - 3-UTRSNV 16/16 - 1