BUD13 BUD13 homolog

Canonical transcript: NM_032725

50 unique variant annotations were identified in 82 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
11-116619051-G-A c.*147C>T - 3-UTRSNV 10/10 - 3
11-116619073-C-G c.*125G>C - 3-UTRSNV 10/10 - 20
11-116619073-C-T c.*125G>A - 3-UTRSNV 10/10 - 20
11-116620256-C-A c.1767-965G>T - IntronicSNV - 9/9 9
11-116620693-C-T c.1767-1402G>A - IntronicSNV - 9/9 1
11-116621770-G-A c.1767-2479C>T - IntronicSNV - 9/9 4
11-116621963-T-G c.1767-2672A>C - IntronicSNV - 9/9 4
11-116622723-G-A c.1767-3432C>T - IntronicSNV - 9/9 1
11-116622723-G-C c.1767-3432C>G - IntronicSNV - 9/9 1
11-116622958-G-A c.1767-3667C>T - IntronicSNV - 9/9 1
11-116623659-C-T c.1766+4203G>A - IntronicSNV - 9/9 4
11-116624153-C-A c.1766+3709G>T - IntronicSNV - 9/9 3
11-116624153-C-G c.1766+3709G>C - IntronicSNV - 9/9 3
11-116624703-G-T c.1766+3159C>A - IntronicSNV - 9/9 8
11-116625332-T-C c.1766+2530A>G - IntronicSNV - 9/9 1
11-116625875-G-A c.1766+1987C>T - IntronicSNV - 9/9 1
11-116625875-G-T c.1766+1987C>A - IntronicSNV - 9/9 1
11-116626258-G-A c.1766+1604C>T - IntronicSNV - 9/9 2
11-116628401-T-C c.1684+81A>G - IntronicSNV - 8/9 6
11-116629153-G-A c.1361-30C>T - IntronicSNV - 6/9 1
11-116629949-C-T c.1255-54G>A - IntronicSNV - 5/9 1
11-116630600-C-T c.1255-705G>A - IntronicSNV - 5/9 2
11-116631391-T-C c.1254+60A>G - IntronicSNV - 5/9 3
11-116631482-G-A c.1223C>T p.Pro408Leu Missense 5/10 - 1
11-116631690-G-A c.1037-22C>T - IntronicSNV - 4/9 1
11-116631707-T-A c.1037-39A>T - IntronicSNV - 4/9 3
11-116631707-T-C c.1037-39A>G - IntronicSNV - 4/9 3
11-116631786-A-T c.1037-118T>A - IntronicSNV - 4/9 1
11-116632500-C-T c.1036+769G>A - IntronicSNV - 4/9 5
11-116633580-C-A c.725G>T p.Arg242Ile Missense 4/10 - 1
11-116633825-C-A c.480G>T p.Pro160Pro Synonymous 4/10 - 2
11-116633825-C-T c.480G>A p.Pro160Pro Synonymous 4/10 - 2
11-116633862-G-A c.443C>T p.Pro148Leu Missense 4/10 - 9
11-116633875-G-A c.430C>T p.Arg144Cys Missense 4/10 - 1
11-116633947-G-A c.358C>T p.Arg120Cys Missense 4/10 - 5
11-116634557-T-C c.323-575A>G - IntronicSNV - 3/9 7
11-116635282-C-T c.322+796G>A - IntronicSNV - 3/9 1
11-116635784-A-G c.322+294T>C - IntronicSNV - 3/9 4
11-116637146-C-T c.238-984G>A - IntronicSNV - 2/9 1
11-116639104-A-G c.237+1741T>C - IntronicSNV - 2/9 17
11-116639104-A-T c.237+1741T>A - IntronicSNV - 2/9 17
11-116639692-C-T c.237+1153G>A - IntronicSNV - 2/9 1
11-116639941-A-G c.237+904T>C - IntronicSNV - 2/9 2
11-116639941-A-T c.237+904T>A - IntronicSNV - 2/9 2
11-116640237-A-G c.237+608T>C - IntronicSNV - 2/9 3
11-116640368-A-G c.237+477T>C - IntronicSNV - 2/9 6
11-116642137-C-T c.144-1199G>A - IntronicSNV - 1/9 4
11-116643617-C-A c.64G>T p.Ala22Ser Missense 1/10 - 1
11-116643617-C-T c.64G>A p.Ala22Thr Missense 1/10 - 1
11-116643624-CC-AC c.57delinsT p.Gly19Gly Missense 1/10 - 1