CTNNA2 catenin alpha 2

Canonical transcript: NM_004389

362 unique variant annotations were identified in 219 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
2-79742952-T-A c.-6+2619T>A - intron_variant - 1/17 1
2-79742952-T-C c.-6+2619T>C - intron_variant - 1/17 1
2-79742952-T-G c.-6+2619T>G - intron_variant - 1/17 1
2-79766537-G-A c.-6+26204G>A - intron_variant - 1/17 1
2-79772054-T-C c.-6+31721T>C - intron_variant - 1/17 1
2-79774058-C-T c.-6+33725C>T - intron_variant - 1/17 2
2-79776291-C-A c.-6+35958C>A - intron_variant - 1/17 2
2-79776291-C-T c.-6+35958C>T - intron_variant - 1/17 2
2-79778112-T-C c.-6+37779T>C - intron_variant - 1/17 1
2-79781669-G-T c.-6+41336G>T - intron_variant - 1/17 2
2-79781797-G-A c.-6+41464G>A - intron_variant - 1/17 1
2-79781797-G-C c.-6+41464G>C - intron_variant - 1/17 1
2-79781797-G-T c.-6+41464G>T - intron_variant - 1/17 1
2-79782036-A-G c.-6+41703A>G - intron_variant - 1/17 1
2-79790977-A-G c.-6+50644A>G - intron_variant - 1/17 1
2-79811317-T-A c.-5-67361T>A - IntronicSNV - 1/17 1
2-79811317-T-C c.-5-67361T>C - IntronicSNV - 1/17 1
2-79813196-G-A c.-5-65482G>A - IntronicSNV - 1/17 1
2-79813928-G-A c.-5-64750G>A - IntronicSNV - 1/17 1
2-79815964-A-G c.-5-62714A>G - IntronicSNV - 1/17 1
2-79817143-A-G c.-5-61535A>G - IntronicSNV - 1/17 1
2-79822618-G-A c.-5-56060G>A - IntronicSNV - 1/17 1
2-79822618-G-C c.-5-56060G>C - IntronicSNV - 1/17 1
2-79831446-A-G c.-5-47232A>G - IntronicSNV - 1/17 1
2-79842594-G-C c.-5-36084G>C - IntronicSNV - 1/17 1
2-79854979-G-A c.-5-23699G>A - IntronicSNV - 1/17 1
2-79855622-C-A c.-5-23056C>A - IntronicSNV - 1/17 2
2-79855622-C-T c.-5-23056C>T - IntronicSNV - 1/17 2
2-79859539-G-A c.-5-19139G>A - IntronicSNV - 1/17 1
2-79860698-C-G c.-5-17980C>G - IntronicSNV - 1/17 1
2-79864923-T-G c.-5-13755T>G - IntronicSNV - 1/17 12
2-79867668-C-T c.-5-11010C>T - IntronicSNV - 1/17 2
2-79878664-A-C c.-5-14A>C - IntronicSNV - 1/17 1
2-79878664-A-G c.-5-14A>G - IntronicSNV - 1/17 1
2-79878728-AG-GC c.46_47delinsGC p.Ser16Ala Missense 2/18 - 1
2-79878728-A-T c.46A>T p.Ser16Cys Missense 2/18 - 1
2-79878744-C-T c.62C>T p.Thr21Met Missense 2/18 - 1
2-79878758-A-C c.76A>C p.Arg26Arg Synonymous 2/18 - 1
2-79878760-G-A c.78G>A p.Arg26Arg Synonymous 2/18 - 1
2-79878761-CT-GC c.79_80delinsGC p.Leu27Ala Missense 2/18 - 1
2-79878782-C-T c.100C>T p.Gln34* Nonsense 2/18 - 1
2-79882260-T-C c.102+3476T>C - IntronicSNV - 2/17 6
2-79884445-G-C c.102+5661G>C - IntronicSNV - 2/17 1
2-79887830-C-T c.102+9046C>T - IntronicSNV - 2/17 1
2-79888378-G-A c.102+9594G>A - IntronicSNV - 2/17 1
2-79888572-C-A c.102+9788C>A - IntronicSNV - 2/17 1
2-79890172-T-C c.102+11388T>C - IntronicSNV - 2/17 1
2-79892257-T-G c.102+13473T>G - IntronicSNV - 2/17 1
2-79898937-C-T c.102+20153C>T - IntronicSNV - 2/17 2
2-79901095-A-G c.102+22311A>G - IntronicSNV - 2/17 5
2-79903804-G-A c.102+25020G>A - IntronicSNV - 2/17 1
2-79905813-G-A c.102+27029G>A - IntronicSNV - 2/17 1
2-79907023-A-C c.102+28239A>C - IntronicSNV - 2/17 1
2-79910116-C-A c.102+31332C>A - IntronicSNV - 2/17 1
2-79910116-C-T c.102+31332C>T - IntronicSNV - 2/17 1
2-79911890-A-C c.102+33106A>C - IntronicSNV - 2/17 1
2-79912221-A-T c.102+33437A>T - IntronicSNV - 2/17 1
2-79918248-C-G c.102+39464C>G - IntronicSNV - 2/17 1
2-79922802-C-T c.102+44018C>T - IntronicSNV - 2/17 2
2-79926665-A-C c.103-44848A>C - IntronicSNV - 2/17 1
2-79926942-C-A c.103-44571C>A - IntronicSNV - 2/17 1
2-79928312-A-C c.103-43201A>C - IntronicSNV - 2/17 1
2-79928312-A-G c.103-43201A>G - IntronicSNV - 2/17 1
2-79937078-C-A c.103-34435C>A - IntronicSNV - 2/17 1
2-79937078-C-G c.103-34435C>G - IntronicSNV - 2/17 1
2-79937078-C-T c.103-34435C>T - IntronicSNV - 2/17 1
2-79944108-A-G c.103-27405A>G - IntronicSNV - 2/17 1
2-79951641-G-A c.103-19872G>A - IntronicSNV - 2/17 1
2-79953746-C-T c.103-17767C>T - IntronicSNV - 2/17 1
2-79956356-C-A c.103-15157C>A - IntronicSNV - 2/17 2
2-79956550-C-T c.103-14963C>T - IntronicSNV - 2/17 2
2-79968075-T-A c.103-3438T>A - IntronicSNV - 2/17 1
2-79968075-T-C c.103-3438T>C - IntronicSNV - 2/17 1
2-79968624-C-A c.103-2889C>A - IntronicSNV - 2/17 1
2-79968624-C-T c.103-2889C>T - IntronicSNV - 2/17 1
2-79971644-C-T c.234C>T p.Ile78Ile Synonymous 3/18 - 1
2-79973436-T-C c.298+1728T>C - IntronicSNV - 3/17 3
2-79979967-G-A c.298+8259G>A - IntronicSNV - 3/17 2
2-79979967-G-C c.298+8259G>C - IntronicSNV - 3/17 2
2-79982582-C-T c.298+10874C>T - IntronicSNV - 3/17 1
2-79982689-T-C c.298+10981T>C - IntronicSNV - 3/17 1
2-79985419-C-T c.298+13711C>T - IntronicSNV - 3/17 1
2-79991329-T-G c.298+19621T>G - IntronicSNV - 3/17 1
2-79995904-C-T c.298+24196C>T - IntronicSNV - 3/17 1
2-79996773-G-A c.298+25065G>A - IntronicSNV - 3/17 1
2-80007503-A-C c.298+35795A>C - IntronicSNV - 3/17 1
2-80011616-C-G c.298+39908C>G - IntronicSNV - 3/17 1
2-80012056-G-T c.298+40348G>T - IntronicSNV - 3/17 1
2-80015386-G-A c.298+43678G>A - IntronicSNV - 3/17 1
2-80015386-G-C c.298+43678G>C - IntronicSNV - 3/17 1
2-80022046-G-A c.298+50338G>A - IntronicSNV - 3/17 2
2-80023852-C-A c.298+52144C>A - IntronicSNV - 3/17 1
2-80023852-C-G c.298+52144C>G - IntronicSNV - 3/17 1
2-80025940-C-T c.298+54232C>T - IntronicSNV - 3/17 1
2-80026432-T-A c.298+54724T>A - IntronicSNV - 3/17 1
2-80026432-T-C c.298+54724T>C - IntronicSNV - 3/17 1
2-80027717-A-G c.298+56009A>G - IntronicSNV - 3/17 1
2-80029171-C-A c.299-55968C>A - IntronicSNV - 3/17 1
2-80029171-C-T c.299-55968C>T - IntronicSNV - 3/17 1
2-80034112-G-A c.299-51027G>A - IntronicSNV - 3/17 1
2-80034112-G-T c.299-51027G>T - IntronicSNV - 3/17 1
2-80034570-T-C c.299-50569T>C - IntronicSNV - 3/17 1
2-80040682-C-A c.299-44457C>A - IntronicSNV - 3/17 1
2-80049718-C-T c.299-35421C>T - IntronicSNV - 3/17 1
2-80054826-C-G c.299-30313C>G - IntronicSNV - 3/17 1
2-80054826-C-T c.299-30313C>T - IntronicSNV - 3/17 1
2-80060079-G-T c.299-25060G>T - IntronicSNV - 3/17 1
2-80075884-G-C c.299-9255G>C - IntronicSNV - 3/17 1
2-80079711-G-A c.299-5428G>A - IntronicSNV - 3/17 2
2-80081856-G-A c.299-3283G>A - IntronicSNV - 3/17 1
2-80081856-G-C c.299-3283G>C - IntronicSNV - 3/17 1
2-80084691-G-A c.299-448G>A - IntronicSNV - 3/17 1
2-80086076-A-G c.465+771A>G - IntronicSNV - 4/17 1
2-80086076-A-T c.465+771A>T - IntronicSNV - 4/17 1
2-80087527-C-T c.465+2222C>T - IntronicSNV - 4/17 1
2-80089819-A-G c.465+4514A>G - IntronicSNV - 4/17 1
2-80097000-G-A c.524G>A p.Arg175His Missense 5/18 - 1
2-80097279-T-A c.585+218T>A - IntronicSNV - 5/17 4
2-80097279-T-C c.585+218T>C - IntronicSNV - 5/17 4
2-80101241-G-A c.625G>A p.Ala209Thr Missense 6/18 - 1
2-80101301-C-T c.685C>T p.Arg229Cys Missense 6/18 - 1
2-80101321-T-A c.705T>A p.Ala235Ala Synonymous 6/18 - 1
2-80101321-T-G c.705T>G p.Ala235Ala Synonymous 6/18 - 1
2-80101335-G-C c.719G>C p.Arg240Pro Missense 6/18 - 1
2-80101372-C-T c.756C>T p.Ala252Ala Synonymous 6/18 - 1
2-80101394-G-T c.778G>T p.Ala260Ser Missense 6/18 - 1
2-80102308-G-A c.852+840G>A - IntronicSNV - 6/17 2
2-80103042-A-G c.852+1574A>G - IntronicSNV - 6/17 1
2-80104527-C-T c.852+3059C>T - IntronicSNV - 6/17 1
2-80111797-G-A c.852+10329G>A - IntronicSNV - 6/17 1
2-80111797-G-T c.852+10329G>T - IntronicSNV - 6/17 1
2-80115035-G-A c.852+13567G>A - IntronicSNV - 6/17 1
2-80116325-C-T c.852+14857C>T - IntronicSNV - 6/17 4
2-80116587-G-A c.852+15119G>A - IntronicSNV - 6/17 1
2-80119494-T-G c.853-17226T>G - IntronicSNV - 6/17 4
2-80119552-C-A c.853-17168C>A - IntronicSNV - 6/17 2
2-80119938-A-G c.853-16782A>G - IntronicSNV - 6/17 1
2-80121189-T-C c.853-15531T>C - IntronicSNV - 6/17 2
2-80121189-T-G c.853-15531T>G - IntronicSNV - 6/17 2
2-80121731-G-T c.853-14989G>T - IntronicSNV - 6/17 1
2-80126150-A-C c.853-10570A>C - IntronicSNV - 6/17 1
2-80126150-A-G c.853-10570A>G - IntronicSNV - 6/17 1
2-80126394-A-G c.853-10326A>G - IntronicSNV - 6/17 1
2-80126394-A-T c.853-10326A>T - IntronicSNV - 6/17 1
2-80130025-A-G c.853-6695A>G - IntronicSNV - 6/17 1
2-80130025-A-T c.853-6695A>T - IntronicSNV - 6/17 1
2-80130310-T-A c.853-6410T>A - IntronicSNV - 6/17 4
2-80135517-G-A c.853-1203G>A - IntronicSNV - 6/17 1
2-80136811-C-T c.944C>T p.Ala315Val Missense 7/18 - 1
2-80136872-C-A c.1005C>A p.Cys335* Nonsense 7/18 - 1
2-80137537-T-C c.1056+614T>C - IntronicSNV - 7/17 4
2-80138245-A-G c.1056+1322A>G - IntronicSNV - 7/17 3
2-80138245-A-T c.1056+1322A>T - IntronicSNV - 7/17 3
2-80152516-T-G c.1056+15593T>G - IntronicSNV - 7/17 1
2-80153297-C-G c.1056+16374C>G - IntronicSNV - 7/17 1
2-80154236-C-G c.1056+17313C>G - IntronicSNV - 7/17 1
2-80164058-G-A c.1056+27135G>A - IntronicSNV - 7/17 2
2-80164612-T-C c.1056+27689T>C - IntronicSNV - 7/17 1
2-80166013-A-G c.1056+29090A>G - IntronicSNV - 7/17 1
2-80166013-A-T c.1056+29090A>T - IntronicSNV - 7/17 1
2-80172596-C-T c.1056+35673C>T - IntronicSNV - 7/17 1
2-80173213-G-A c.1056+36290G>A - IntronicSNV - 7/17 1
2-80174923-G-T c.1056+38000G>T - IntronicSNV - 7/17 1
2-80175291-C-A c.1056+38368C>A - IntronicSNV - 7/17 1
2-80175291-C-T c.1056+38368C>T - IntronicSNV - 7/17 1
2-80175881-C-G c.1056+38958C>G - IntronicSNV - 7/17 1
2-80175881-C-T c.1056+38958C>T - IntronicSNV - 7/17 1
2-80177744-C-T c.1056+40821C>T - IntronicSNV - 7/17 1
2-80181443-G-A c.1056+44520G>A - IntronicSNV - 7/17 1
2-80182551-C-A c.1056+45628C>A - IntronicSNV - 7/17 1
2-80182551-C-T c.1056+45628C>T - IntronicSNV - 7/17 1
2-80187969-C-T c.1056+51046C>T - IntronicSNV - 7/17 2
2-80189383-G-A c.1056+52460G>A - IntronicSNV - 7/17 1
2-80189383-G-C c.1056+52460G>C - IntronicSNV - 7/17 1
2-80191985-A-G c.1056+55062A>G - IntronicSNV - 7/17 1
2-80192435-A-G c.1056+55512A>G - IntronicSNV - 7/17 1
2-80193386-G-A c.1056+56463G>A - IntronicSNV - 7/17 1
2-80194625-T-C c.1056+57702T>C - IntronicSNV - 7/17 1
2-80197843-G-T c.1056+60920G>T - IntronicSNV - 7/17 1
2-80198597-A-G c.1056+61674A>G - IntronicSNV - 7/17 1
2-80198597-A-T c.1056+61674A>T - IntronicSNV - 7/17 1
2-80206177-T-C c.1056+69254T>C - IntronicSNV - 7/17 1
2-80213290-A-C c.1056+76367A>C - IntronicSNV - 7/17 1
2-80213652-T-A c.1056+76729T>A - IntronicSNV - 7/17 1
2-80213652-T-C c.1056+76729T>C - IntronicSNV - 7/17 1
2-80214386-C-A c.1056+77463C>A - IntronicSNV - 7/17 1
2-80214820-C-T c.1056+77897C>T - IntronicSNV - 7/17 1
2-80216176-G-A c.1056+79253G>A - IntronicSNV - 7/17 2
2-80216399-C-T c.1056+79476C>T - IntronicSNV - 7/17 2
2-80217014-T-G c.1056+80091T>G - IntronicSNV - 7/17 2
2-80219790-A-C c.1056+82867A>C - IntronicSNV - 7/17 1
2-80221898-G-A c.1056+84975G>A - IntronicSNV - 7/17 1
2-80229138-G-A c.1056+92215G>A - IntronicSNV - 7/17 1
2-80229138-G-T c.1056+92215G>T - IntronicSNV - 7/17 1
2-80231469-A-G c.1056+94546A>G - IntronicSNV - 7/17 1
2-80237984-A-G c.1056+101061A>G - IntronicSNV - 7/17 1
2-80237984-A-T c.1056+101061A>T - IntronicSNV - 7/17 1
2-80238438-G-A c.1056+101515G>A - IntronicSNV - 7/17 3
2-80261170-C-G c.1056+124247C>G - IntronicSNV - 7/17 1
2-80261170-C-T c.1056+124247C>T - IntronicSNV - 7/17 1
2-80272344-G-A c.1056+135421G>A - IntronicSNV - 7/17 1
2-80277095-C-T c.1056+140172C>T - IntronicSNV - 7/17 1
2-80279831-G-A c.1056+142908G>A - IntronicSNV - 7/17 1
2-80281173-A-G c.1056+144250A>G - IntronicSNV - 7/17 9
2-80285613-C-T c.1056+148690C>T - IntronicSNV - 7/17 1
2-80298534-G-A c.1056+161611G>A - IntronicSNV - 7/17 1
2-80299354-C-A c.1056+162431C>A - IntronicSNV - 7/17 1
2-80301569-A-G c.1056+164646A>G - IntronicSNV - 7/17 3
2-80310648-A-G c.1056+173725A>G - IntronicSNV - 7/17 1
2-80317685-G-A c.1056+180762G>A - IntronicSNV - 7/17 2
2-80326008-C-T c.1056+189085C>T - IntronicSNV - 7/17 1
2-80331554-T-C c.1056+194631T>C - IntronicSNV - 7/17 1
2-80339218-G-A c.1056+202295G>A - IntronicSNV - 7/17 1
2-80359253-G-A c.1056+222330G>A - IntronicSNV - 7/17 3
2-80371312-A-G c.1056+234389A>G - IntronicSNV - 7/17 1
2-80382810-A-G c.1057-237526A>G - IntronicSNV - 7/17 1
2-80392645-C-T c.1057-227691C>T - IntronicSNV - 7/17 1
2-80396265-C-G c.1057-224071C>G - IntronicSNV - 7/17 1
2-80396362-A-G c.1057-223974A>G - IntronicSNV - 7/17 1
2-80398707-C-T c.1057-221629C>T - IntronicSNV - 7/17 1
2-80415402-C-A c.1057-204934C>A - IntronicSNV - 7/17 1
2-80434943-G-A c.1057-185393G>A - IntronicSNV - 7/17 1
2-80435481-G-C c.1057-184855G>C - IntronicSNV - 7/17 1
2-80446496-A-G c.1057-173840A>G - IntronicSNV - 7/17 2
2-80447262-T-C c.1057-173074T>C - IntronicSNV - 7/17 1
2-80455251-T-C c.1057-165085T>C - IntronicSNV - 7/17 1
2-80456138-T-C c.1057-164198T>C - IntronicSNV - 7/17 1
2-80465216-G-A c.1057-155120G>A - IntronicSNV - 7/17 1
2-80465216-G-T c.1057-155120G>T - IntronicSNV - 7/17 1
2-80467493-C-T c.1057-152843C>T - IntronicSNV - 7/17 1
2-80468532-A-G c.1057-151804A>G - IntronicSNV - 7/17 1
2-80474158-G-A c.1057-146178G>A - IntronicSNV - 7/17 1
2-80474158-G-T c.1057-146178G>T - IntronicSNV - 7/17 1
2-80478274-T-G c.1057-142062T>G - IntronicSNV - 7/17 1
2-80480138-G-A c.1057-140198G>A - IntronicSNV - 7/17 1
2-80480138-G-C c.1057-140198G>C - IntronicSNV - 7/17 1
2-80484332-C-A c.1057-136004C>A - IntronicSNV - 7/17 1
2-80484593-C-G c.1057-135743C>G - IntronicSNV - 7/17 1
2-80488774-C-T c.1057-131562C>T - IntronicSNV - 7/17 2
2-80499641-T-C c.1057-120695T>C - IntronicSNV - 7/17 1
2-80505611-A-G c.1057-114725A>G - IntronicSNV - 7/17 1
2-80513925-T-A c.1057-106411T>A - IntronicSNV - 7/17 1
2-80514672-C-A c.1057-105664C>A - IntronicSNV - 7/17 2
2-80514672-C-T c.1057-105664C>T - IntronicSNV - 7/17 2
2-80517043-A-G c.1057-103293A>G - IntronicSNV - 7/17 1
2-80520198-T-G c.1057-100138T>G - IntronicSNV - 7/17 1
2-80520897-C-A c.1057-99439C>A - IntronicSNV - 7/17 1
2-80520897-C-G c.1057-99439C>G - IntronicSNV - 7/17 1
2-80520897-C-T c.1057-99439C>T - IntronicSNV - 7/17 1
2-80521341-C-T c.1057-98995C>T - IntronicSNV - 7/17 1
2-80522479-A-G c.1057-97857A>G - IntronicSNV - 7/17 1
2-80523700-A-C c.1057-96636A>C - IntronicSNV - 7/17 1
2-80523700-A-T c.1057-96636A>T - IntronicSNV - 7/17 1
2-80524178-T-C c.1057-96158T>C - IntronicSNV - 7/17 2
2-80527012-G-A c.1057-93324G>A - IntronicSNV - 7/17 1
2-80527012-G-T c.1057-93324G>T - IntronicSNV - 7/17 1
2-80529052-A-G c.1057-91284A>G - IntronicSNV - 7/17 1
2-80529956-T-C c.1057-90380T>C - IntronicSNV - 7/17 7
2-80530843-G-A c.1057-89493G>A - IntronicSNV - 7/17 1
2-80530843-G-T c.1057-89493G>T - IntronicSNV - 7/17 1
2-80538419-A-G c.1057-81917A>G - IntronicSNV - 7/17 5
2-80545923-T-A c.1057-74413T>A - IntronicSNV - 7/17 1
2-80549949-G-A c.1057-70387G>A - IntronicSNV - 7/17 1
2-80551464-C-T c.1057-68872C>T - IntronicSNV - 7/17 1
2-80551609-G-A c.1057-68727G>A - IntronicSNV - 7/17 1
2-80553345-T-A c.1057-66991T>A - IntronicSNV - 7/17 4
2-80556669-T-C c.1057-63667T>C - IntronicSNV - 7/17 1
2-80558293-T-C c.1057-62043T>C - IntronicSNV - 7/17 2
2-80562080-G-T c.1057-58256G>T - IntronicSNV - 7/17 1
2-80565923-C-G c.1057-54413C>G - IntronicSNV - 7/17 1
2-80570506-G-T c.1057-49830G>T - IntronicSNV - 7/17 1
2-80572276-C-T c.1057-48060C>T - IntronicSNV - 7/17 1
2-80573726-C-T c.1057-46610C>T - IntronicSNV - 7/17 1
2-80574069-T-C c.1057-46267T>C - IntronicSNV - 7/17 1
2-80574477-C-A c.1057-45859C>A - IntronicSNV - 7/17 1
2-80574477-C-G c.1057-45859C>G - IntronicSNV - 7/17 1
2-80577088-C-T c.1057-43248C>T - IntronicSNV - 7/17 1
2-80580875-C-A c.1057-39461C>A - IntronicSNV - 7/17 1
2-80581452-A-G c.1057-38884A>G - IntronicSNV - 7/17 2
2-80581801-G-T c.1057-38535G>T - IntronicSNV - 7/17 4
2-80584769-G-A c.1057-35567G>A - IntronicSNV - 7/17 1
2-80605790-A-G c.1057-14546A>G - IntronicSNV - 7/17 1
2-80608268-A-G c.1057-12068A>G - IntronicSNV - 7/17 1
2-80612436-C-G c.1057-7900C>G - IntronicSNV - 7/17 1
2-80612436-C-T c.1057-7900C>T - IntronicSNV - 7/17 1
2-80613349-T-A c.1057-6987T>A - IntronicSNV - 7/17 1
2-80630354-C-T c.1137+9938C>T - IntronicSNV - 8/17 1
2-80641365-G-A c.1138-5209G>A - IntronicSNV - 8/17 1
2-80645488-T-A c.1138-1086T>A - IntronicSNV - 8/17 1
2-80645488-T-C c.1138-1086T>C - IntronicSNV - 8/17 1
2-80645488-T-G c.1138-1086T>G - IntronicSNV - 8/17 1
2-80660174-C-G c.1290+13448C>G - IntronicSNV - 9/17 1
2-80664439-T-G c.1290+17713T>G - IntronicSNV - 9/17 1
2-80668722-T-G c.1290+21996T>G - IntronicSNV - 9/17 1
2-80673614-C-T c.1290+26888C>T - IntronicSNV - 9/17 2
2-80677310-T-A c.1290+30584T>A - IntronicSNV - 9/17 2
2-80677310-T-C c.1290+30584T>C - IntronicSNV - 9/17 2
2-80680830-A-G c.1290+34104A>G - IntronicSNV - 9/17 1
2-80691740-A-G c.1290+45014A>G - IntronicSNV - 9/17 1
2-80692107-C-T c.1290+45381C>T - IntronicSNV - 9/17 1
2-80694931-T-C c.1290+48205T>C - IntronicSNV - 9/17 1
2-80697892-A-G c.1290+51166A>G - IntronicSNV - 9/17 1
2-80703059-A-C c.1290+56333A>C - IntronicSNV - 9/17 1
2-80703059-A-T c.1290+56333A>T - IntronicSNV - 9/17 1
2-80703379-A-G c.1290+56653A>G - IntronicSNV - 9/17 2
2-80703379-A-T c.1290+56653A>T - IntronicSNV - 9/17 2
2-80710960-G-C c.1291-61147G>C - IntronicSNV - 9/17 1
2-80711589-C-G c.1291-60518C>G - IntronicSNV - 9/17 2
2-80711589-C-T c.1291-60518C>T - IntronicSNV - 9/17 2
2-80712196-A-G c.1291-59911A>G - IntronicSNV - 9/17 1
2-80712306-A-T c.1291-59801A>T - IntronicSNV - 9/17 1
2-80712919-G-A c.1291-59188G>A - IntronicSNV - 9/17 2
2-80713142-T-C c.1291-58965T>C - IntronicSNV - 9/17 2
2-80713484-C-G c.1291-58623C>G - IntronicSNV - 9/17 1
2-80713484-C-T c.1291-58623C>T - IntronicSNV - 9/17 1
2-80715149-T-G c.1291-56958T>G - IntronicSNV - 9/17 4
2-80715384-T-A c.1291-56723T>A - IntronicSNV - 9/17 1
2-80715384-T-G c.1291-56723T>G - IntronicSNV - 9/17 1
2-80716691-G-A c.1291-55416G>A - IntronicSNV - 9/17 2
2-80721360-A-C c.1291-50747A>C - IntronicSNV - 9/17 1
2-80721360-A-G c.1291-50747A>G - IntronicSNV - 9/17 1
2-80728404-T-A c.1291-43703T>A - IntronicSNV - 9/17 1
2-80743194-G-A c.1291-28913G>A - IntronicSNV - 9/17 1
2-80743370-C-T c.1291-28737C>T - IntronicSNV - 9/17 1
2-80743948-C-T c.1291-28159C>T - IntronicSNV - 9/17 2
2-80746054-A-G c.1291-26053A>G - IntronicSNV - 9/17 1
2-80746934-A-G c.1291-25173A>G - IntronicSNV - 9/17 1
2-80749784-C-A c.1291-22323C>A - IntronicSNV - 9/17 1
2-80750869-A-G c.1291-21238A>G - IntronicSNV - 9/17 1
2-80754136-A-C c.1291-17971A>C - IntronicSNV - 9/17 1
2-80754136-A-T c.1291-17971A>T - IntronicSNV - 9/17 1
2-80756301-T-C c.1291-15806T>C - IntronicSNV - 9/17 2
2-80761192-A-C c.1291-10915A>C - IntronicSNV - 9/17 2
2-80764938-G-A c.1291-7169G>A - IntronicSNV - 9/17 1
2-80764938-G-C c.1291-7169G>C - IntronicSNV - 9/17 1
2-80772126-C-G c.1310C>G p.Ser437Cys Missense 10/18 - 1
2-80772972-G-A c.1384-60G>A - IntronicSNV - 10/17 1
2-80773128-C-T c.1480C>T p.Arg494* Nonsense 11/18 - 1
2-80781006-G-A c.1541-1812G>A - IntronicSNV - 11/17 1
2-80781006-G-T c.1541-1812G>T - IntronicSNV - 11/17 1
2-80782998-C-A c.1721C>A p.Thr574Lys Missense 12/18 - 1
2-80791001-C-G c.1741+7983C>G - IntronicSNV - 12/17 1
2-80791001-C-T c.1741+7983C>T - IntronicSNV - 12/17 1
2-80794915-G-A c.1742-6373G>A - IntronicSNV - 12/17 1
2-80804284-G-A c.1893+2845G>A - IntronicSNV - 13/17 1
2-80809179-C-T c.2007+235C>T - IntronicSNV - 14/17 1
2-80814388-C-T c.2008-2041C>T - IntronicSNV - 14/17 1
2-80816763-C-A c.2189+153C>A - IntronicSNV - 15/17 1
2-80816763-C-G c.2189+153C>G - IntronicSNV - 15/17 1
2-80818968-G-C c.2189+2358G>C - IntronicSNV - 15/17 1
2-80822772-C-T c.2189+6162C>T - IntronicSNV - 15/17 1
2-80825572-G-A c.2190-5627G>A - IntronicSNV - 15/17 1
2-80831288-G-A c.2279G>A p.Arg760His Missense 16/18 - 1
2-80831481-G-A c.2295+177G>A - IntronicSNV - 16/17 1
2-80833357-C-T c.2296-1952C>T - IntronicSNV - 16/17 1
2-80835354-C-T c.2341C>T p.Arg781* Nonsense 17/18 - 1
2-80842298-T-A c.2430+6855T>A - IntronicSNV - 17/17 1
2-80845608-C-T c.2430+10165C>T - IntronicSNV - 17/17 1
2-80849811-C-T c.2430+14368C>T - IntronicSNV - 17/17 2
2-80867776-G-C c.2431-6934G>C - IntronicSNV - 17/17 1
2-80872051-T-C c.2431-2659T>C - IntronicSNV - 17/17 1
2-80874923-C-T c.2644C>T p.Arg882* Nonsense 18/18 - 1