Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121168876C>ACA383036978TBCEL-TECTA,TECTAc.5950C>A (p.Pro1984Thr)
c.5935C>A (p.Pro1979Thr)
c.3242C>A
n.2330C>A
c.6892C>A (p.Pro2298Thr)
11g.121168876C>GCA383036979TBCEL-TECTA,TECTAc.5950C>G (p.Pro1984Ala)
c.5935C>G (p.Pro1979Ala)
c.3242C>G
n.2330C>G
c.6892C>G (p.Pro2298Ala)
11g.121168876C>TCA383036980TBCEL-TECTA,TECTAc.5950C>T (p.Pro1984Ser)
c.5935C>T (p.Pro1979Ser)
c.3242C>T
n.2330C>T
c.6892C>T (p.Pro2298Ser)
11g.121168877C>ACA383036981TBCEL-TECTA,TECTAc.5951C>A (p.Pro1984His)
c.5936C>A (p.Pro1979His)
c.3243C>A
n.2331C>A
c.6893C>A (p.Pro2298His)
11g.121168877C>GCA383036982TBCEL-TECTA,TECTAc.5951C>G (p.Pro1984Arg)
c.5936C>G (p.Pro1979Arg)
c.3243C>G
n.2331C>G
c.6893C>G (p.Pro2298Arg)
11g.121168877C>TCA383036983TBCEL-TECTA,TECTAc.5951C>T (p.Pro1984Leu)
c.5936C>T (p.Pro1979Leu)
c.3243C>T
n.2331C>T
c.6893C>T (p.Pro2298Leu)
11g.121168878C>ACA477383516TBCEL-TECTA,TECTAc.5952C>A (p.Pro1984=)
c.5937C>A (p.Pro1979=)
c.3244C>A
n.2332C>A
c.6894C>A (p.Pro2298=)
11g.121168878C>GCA477383514TBCEL-TECTA,TECTAc.5952C>G (p.Pro1984=)
c.5937C>G (p.Pro1979=)
c.3244C>G
n.2332C>G
c.6894C>G (p.Pro2298=)
11g.121168878C>TCA477383515TBCEL-TECTA,TECTAc.5952C>T (p.Pro1984=)
c.5937C>T (p.Pro1979=)
c.3244C>T
n.2332C>T
c.6894C>T (p.Pro2298=)
11g.121168878_121168879insCCCCAAACACCA2793889366TBCEL-TECTA,TECTAc.5952_5953insCCCCAAACAC (p.Thr1985ProfsTer7)
c.5937_5938insCCCCAAACAC (p.Thr1980ProfsTer7)
c.3244_3245insCCCCAAACAC
n.2332_2333insCCCCAAACAC
c.6894_6895insCCCCAAACAC (p.Thr2299ProfsTer7)
11g.121168879A=CA2004752663TBCEL-TECTA,TECTAc.5953A= (p.Thr1985=)
c.5938A= (p.Thr1980=)
c.3245A=
n.2333A=
c.6895A= (p.Thr2299=)
11g.121168879A>CCA383036984TBCEL-TECTA,TECTAc.5953A>C (p.Thr1985Pro)
c.5938A>C (p.Thr1980Pro)
c.3245A>C
n.2333A>C
c.6895A>C (p.Thr2299Pro)
 dbSNP
11g.121168879A>GCA383036985TBCEL-TECTA,TECTAc.5953A>G (p.Thr1985Ala)
c.5938A>G (p.Thr1980Ala)
c.3245A>G
n.2333A>G
c.6895A>G (p.Thr2299Ala)
11g.121168879A>TCA383036986TBCEL-TECTA,TECTAc.5953A>T (p.Thr1985Ser)
c.5938A>T (p.Thr1980Ser)
c.3245A>T
n.2333A>T
c.6895A>T (p.Thr2299Ser)
11g.121168880C>ACA383036988TBCEL-TECTA,TECTAc.5954C>A (p.Thr1985Asn)
c.5939C>A (p.Thr1980Asn)
c.3246C>A
n.2334C>A
c.6896C>A (p.Thr2299Asn)
11g.121168880C>GCA383036989TBCEL-TECTA,TECTAc.5954C>G (p.Thr1985Ser)
c.5939C>G (p.Thr1980Ser)
c.3246C>G
n.2334C>G
c.6896C>G (p.Thr2299Ser)
11g.121168880C>TCA383036987TBCEL-TECTA,TECTAc.5954C>T (p.Thr1985Ile)
c.5939C>T (p.Thr1980Ile)
c.3246C>T
n.2334C>T
c.6896C>T (p.Thr2299Ile)
11g.121168881C>ACA178117TBCEL-TECTA,TECTAc.5955C>A (p.Thr1985=)
c.5940C>A (p.Thr1980=)
c.3247C>A
n.2335C>A
c.6897C>A (p.Thr2299=)
 ClinVar dbSNP
11g.121168881C=CA2004752667TBCEL-TECTA,TECTAc.5955C= (p.Thr1985=)
c.5940C= (p.Thr1980=)
c.3247C=
n.2335C=
c.6897C= (p.Thr2299=)
11g.121168881C>GCA477383520TBCEL-TECTA,TECTAc.5955C>G (p.Thr1985=)
c.5940C>G (p.Thr1980=)
c.3247C>G
n.2335C>G
c.6897C>G (p.Thr2299=)
11g.121168881C>TCA477383521TBCEL-TECTA,TECTAc.5955C>T (p.Thr1985=)
c.5940C>T (p.Thr1980=)
c.3247C>T
n.2335C>T
c.6897C>T (p.Thr2299=)
11g.121168882C>ACA477383524TBCEL-TECTA,TECTAc.5956C>A (p.Arg1986=)
c.5941C>A (p.Arg1981=)
c.3248C>A
n.2336C>A
c.6898C>A (p.Arg2300=)
11g.121168882C=CA2004752674TBCEL-TECTA,TECTAc.5956C= (p.Arg1986=)
c.5941C= (p.Arg1981=)
c.3248C=
n.2336C=
c.6898C= (p.Arg2300=)
11g.121168882C>GCA6327844TBCEL-TECTA,TECTAc.5956C>G (p.Arg1986Gly)
c.5941C>G (p.Arg1981Gly)
c.3248C>G
n.2336C>G
c.6898C>G (p.Arg2300Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168882C>TCA229853471TBCEL-TECTA,TECTAc.5956C>T (p.Arg1986Ter)
c.5941C>T (p.Arg1981Ter)
c.3248C>T
n.2336C>T
c.6898C>T (p.Arg2300Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121168883G>ACA6327845TBCEL-TECTA,TECTAc.5957G>A (p.Arg1986Gln)
c.5942G>A (p.Arg1981Gln)
c.3249G>A
n.2337G>A
c.6899G>A (p.Arg2300Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168883G>CCA383036990TBCEL-TECTA,TECTAc.5957G>C (p.Arg1986Pro)
c.5942G>C (p.Arg1981Pro)
c.3249G>C
n.2337G>C
c.6899G>C (p.Arg2300Pro)
11g.121168883G=CA2004752678TBCEL-TECTA,TECTAc.5957G= (p.Arg1986=)
c.5942G= (p.Arg1981=)
c.3249G=
n.2337G=
c.6899G= (p.Arg2300=)
11g.121168883G>TCA383036991TBCEL-TECTA,TECTAc.5957G>T (p.Arg1986Leu)
c.5942G>T (p.Arg1981Leu)
c.3249G>T
n.2337G>T
c.6899G>T (p.Arg2300Leu)
11g.121168884A>CCA477383525TBCEL-TECTA,TECTAc.5958A>C (p.Arg1986=)
c.5943A>C (p.Arg1981=)
c.3250A>C
n.2338A>C
c.6900A>C (p.Arg2300=)
11g.121168884A>GCA477383526TBCEL-TECTA,TECTAc.5958A>G (p.Arg1986=)
c.5943A>G (p.Arg1981=)
c.3250A>G
n.2338A>G
c.6900A>G (p.Arg2300=)
11g.121168884A>TCA477383527TBCEL-TECTA,TECTAc.5958A>T (p.Arg1986=)
c.5943A>T (p.Arg1981=)
c.3250A>T
n.2338A>T
c.6900A>T (p.Arg2300=)
11g.121168885G>ACA383036992TBCEL-TECTA,TECTAc.5959G>A (p.Asp1987Asn)
c.5944G>A (p.Asp1982Asn)
c.3251G>A
n.2339G>A
c.6901G>A (p.Asp2301Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.121168885G>CCA383036994TBCEL-TECTA,TECTAc.5959G>C (p.Asp1987His)
c.5944G>C (p.Asp1982His)
c.3251G>C
n.2339G>C
c.6901G>C (p.Asp2301His)
11g.121168885G=CA2004752681TBCEL-TECTA,TECTAc.5959G= (p.Asp1987=)
c.5944G= (p.Asp1982=)
c.3251G=
n.2339G=
c.6901G= (p.Asp2301=)
11g.121168885G>TCA383036993TBCEL-TECTA,TECTAc.5959G>T (p.Asp1987Tyr)
c.5944G>T (p.Asp1982Tyr)
c.3251G>T
n.2339G>T
c.6901G>T (p.Asp2301Tyr)
11g.121168886A>CCA383036995TBCEL-TECTA,TECTAc.5960A>C (p.Asp1987Ala)
c.5945A>C (p.Asp1982Ala)
c.3252A>C
n.2340A>C
c.6902A>C (p.Asp2301Ala)
11g.121168886A>GCA383036996TBCEL-TECTA,TECTAc.5960A>G (p.Asp1987Gly)
c.5945A>G (p.Asp1982Gly)
c.3252A>G
n.2340A>G
c.6902A>G (p.Asp2301Gly)
11g.121168886A>TCA383036997TBCEL-TECTA,TECTAc.5960A>T (p.Asp1987Val)
c.5945A>T (p.Asp1982Val)
c.3252A>T
n.2340A>T
c.6902A>T (p.Asp2301Val)
11g.121168887T>ACA383036998TBCEL-TECTA,TECTAc.5961T>A (p.Asp1987Glu)
c.5946T>A (p.Asp1982Glu)
c.3253T>A
n.2341T>A
c.6903T>A (p.Asp2301Glu)
11g.121168887T>CCA477383531TBCEL-TECTA,TECTAc.5961T>C (p.Asp1987=)
c.5946T>C (p.Asp1982=)
c.3253T>C
n.2341T>C
c.6903T>C (p.Asp2301=)
 dbSNP gnomAD v4 COSMIC
11g.121168887T>GCA229853486TBCEL-TECTA,TECTAc.5961T>G (p.Asp1987Glu)
c.5946T>G (p.Asp1982Glu)
c.3253T>G
n.2341T>G
c.6903T>G (p.Asp2301Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168887T=CA2004752682TBCEL-TECTA,TECTAc.5961T= (p.Asp1987=)
c.5946T= (p.Asp1982=)
c.3253T=
n.2341T=
c.6903T= (p.Asp2301=)
11g.121168888A>CCA383037000TBCEL-TECTA,TECTAc.5962A>C (p.Ser1988Arg)
c.5947A>C (p.Ser1983Arg)
c.3254A>C
n.2342A>C
c.6904A>C (p.Ser2302Arg)
11g.121168888A>GCA383037001TBCEL-TECTA,TECTAc.5962A>G (p.Ser1988Gly)
c.5947A>G (p.Ser1983Gly)
c.3254A>G
n.2342A>G
c.6904A>G (p.Ser2302Gly)
11g.121168888A>TCA383036999TBCEL-TECTA,TECTAc.5962A>T (p.Ser1988Cys)
c.5947A>T (p.Ser1983Cys)
c.3254A>T
n.2342A>T
c.6904A>T (p.Ser2302Cys)
11g.121168889G>ACA383037003TBCEL-TECTA,TECTAc.5963G>A (p.Ser1988Asn)
c.5948G>A (p.Ser1983Asn)
c.3255G>A
n.2343G>A
c.6905G>A (p.Ser2302Asn)
 dbSNP
11g.121168889G>CCA383037002TBCEL-TECTA,TECTAc.5963G>C (p.Ser1988Thr)
c.5948G>C (p.Ser1983Thr)
c.3255G>C
n.2343G>C
c.6905G>C (p.Ser2302Thr)
11g.121168889G=CA2004752684TBCEL-TECTA,TECTAc.5963G= (p.Ser1988=)
c.5948G= (p.Ser1983=)
c.3255G=
n.2343G=
c.6905G= (p.Ser2302=)
11g.121168889G>TCA383037004TBCEL-TECTA,TECTAc.5963G>T (p.Ser1988Ile)
c.5948G>T (p.Ser1983Ile)
c.3255G>T
n.2343G>T
c.6905G>T (p.Ser2302Ile)
11g.121168890C>ACA383037005TBCEL-TECTA,TECTAc.5964C>A (p.Ser1988Arg)
c.5949C>A (p.Ser1983Arg)
c.3256C>A
n.2344C>A
c.6906C>A (p.Ser2302Arg)
11g.121168890C=CA2004752687TBCEL-TECTA,TECTAc.5964C= (p.Ser1988=)
c.5949C= (p.Ser1983=)
c.3256C=
n.2344C=
c.6906C= (p.Ser2302=)
11g.121168890C>GCA383037006TBCEL-TECTA,TECTAc.5964C>G (p.Ser1988Arg)
c.5949C>G (p.Ser1983Arg)
c.3256C>G
n.2344C>G
c.6906C>G (p.Ser2302Arg)
 dbSNP
11g.121168890C>TCA477383535TBCEL-TECTA,TECTAc.5964C>T (p.Ser1988=)
c.5949C>T (p.Ser1983=)
c.3256C>T
n.2344C>T
c.6906C>T (p.Ser2302=)
11g.121168891A>CCA383037007TBCEL-TECTA,TECTAc.5965A>C (p.Asn1989His)
c.5950A>C (p.Asn1984His)
c.3257A>C
n.2345A>C
c.6907A>C (p.Asn2303His)
11g.121168891A>GCA383037008TBCEL-TECTA,TECTAc.5965A>G (p.Asn1989Asp)
c.5950A>G (p.Asn1984Asp)
c.3257A>G
n.2345A>G
c.6907A>G (p.Asn2303Asp)
11g.121168891A>TCA383037009TBCEL-TECTA,TECTAc.5965A>T (p.Asn1989Tyr)
c.5950A>T (p.Asn1984Tyr)
c.3257A>T
n.2345A>T
c.6907A>T (p.Asn2303Tyr)
11g.121168892A>CCA383037010TBCEL-TECTA,TECTAc.5966A>C (p.Asn1989Thr)
c.5951A>C (p.Asn1984Thr)
c.3258A>C
n.2346A>C
c.6908A>C (p.Asn2303Thr)
11g.121168892A>GCA383037011TBCEL-TECTA,TECTAc.5966A>G (p.Asn1989Ser)
c.5951A>G (p.Asn1984Ser)
c.3258A>G
n.2346A>G
c.6908A>G (p.Asn2303Ser)
 gnomAD v4
11g.121168892A>TCA383037012TBCEL-TECTA,TECTAc.5966A>T (p.Asn1989Ile)
c.5951A>T (p.Asn1984Ile)
c.3258A>T
n.2346A>T
c.6908A>T (p.Asn2303Ile)
11g.121168893T>ACA229853491TBCEL-TECTA,TECTAc.5967T>A (p.Asn1989Lys)
c.5952T>A (p.Asn1984Lys)
c.3259T>A
n.2347T>A
c.6909T>A (p.Asn2303Lys)
 dbSNP
11g.121168893T>CCA477383539TBCEL-TECTA,TECTAc.5967T>C (p.Asn1989=)
c.5952T>C (p.Asn1984=)
c.3259T>C
n.2347T>C
c.6909T>C (p.Asn2303=)
11g.121168893T>GCA383037013TBCEL-TECTA,TECTAc.5967T>G (p.Asn1989Lys)
c.5952T>G (p.Asn1984Lys)
c.3259T>G
n.2347T>G
c.6909T>G (p.Asn2303Lys)
11g.121168893T=CA2004752692TBCEL-TECTA,TECTAc.5967T= (p.Asn1989=)
c.5952T= (p.Asn1984=)
c.3259T=
n.2347T=
c.6909T= (p.Asn2303=)
11g.121168894G>ACA383037014TBCEL-TECTA,TECTAc.5968G>A (p.Asp1990Asn)
c.5953G>A (p.Asp1985Asn)
c.3260G>A
n.2348G>A
c.6910G>A (p.Asp2304Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.121168894G>CCA383037015TBCEL-TECTA,TECTAc.5968G>C (p.Asp1990His)
c.5953G>C (p.Asp1985His)
c.3260G>C
n.2348G>C
c.6910G>C (p.Asp2304His)
11g.121168894G=CA2004752696TBCEL-TECTA,TECTAc.5968G= (p.Asp1990=)
c.5953G= (p.Asp1985=)
c.3260G=
n.2348G=
c.6910G= (p.Asp2304=)
11g.121168894G>TCA383037016TBCEL-TECTA,TECTAc.5968G>T (p.Asp1990Tyr)
c.5953G>T (p.Asp1985Tyr)
c.3260G>T
n.2348G>T
c.6910G>T (p.Asp2304Tyr)
 dbSNP gnomAD v4
11g.121168895A=CA2004752700TBCEL-TECTA,TECTAc.5969A= (p.Asp1990=)
c.5954A= (p.Asp1985=)
c.3261A=
n.2349A=
c.6911A= (p.Asp2304=)
11g.121168895A>CCA383037017TBCEL-TECTA,TECTAc.5969A>C (p.Asp1990Ala)
c.5954A>C (p.Asp1985Ala)
c.3261A>C
n.2349A>C
c.6911A>C (p.Asp2304Ala)
11g.121168895A>GCA383037019TBCEL-TECTA,TECTAc.5969A>G (p.Asp1990Gly)
c.5954A>G (p.Asp1985Gly)
c.3261A>G
n.2349A>G
c.6911A>G (p.Asp2304Gly)
 dbSNP gnomAD v4
11g.121168895A>TCA383037018TBCEL-TECTA,TECTAc.5969A>T (p.Asp1990Val)
c.5954A>T (p.Asp1985Val)
c.3261A>T
n.2349A>T
c.6911A>T (p.Asp2304Val)
11g.121168896T>ACA383037020TBCEL-TECTA,TECTAc.5970T>A (p.Asp1990Glu)
c.5955T>A (p.Asp1985Glu)
c.3262T>A
n.2350T>A
c.6912T>A (p.Asp2304Glu)
11g.121168896T>CCA477383541TBCEL-TECTA,TECTAc.5970T>C (p.Asp1990=)
c.5955T>C (p.Asp1985=)
c.3262T>C
n.2350T>C
c.6912T>C (p.Asp2304=)
11g.121168896T>GCA383037021TBCEL-TECTA,TECTAc.5970T>G (p.Asp1990Glu)
c.5955T>G (p.Asp1985Glu)
c.3262T>G
n.2350T>G
c.6912T>G (p.Asp2304Glu)
11g.121168897A>CCA383037022TBCEL-TECTA,TECTAc.5971A>C (p.Lys1991Gln)
c.5956A>C (p.Lys1986Gln)
c.3263A>C
n.2351A>C
c.6913A>C (p.Lys2305Gln)
11g.121168897A>GCA383037023TBCEL-TECTA,TECTAc.5971A>G (p.Lys1991Glu)
c.5956A>G (p.Lys1986Glu)
c.3263A>G
n.2351A>G
c.6913A>G (p.Lys2305Glu)
11g.121168897A>TCA383037024TBCEL-TECTA,TECTAc.5971A>T (p.Lys1991Ter)
c.5956A>T (p.Lys1986Ter)
c.3263A>T
n.2351A>T
c.6913A>T (p.Lys2305Ter)
11g.121168898A>CCA383037025TBCEL-TECTA,TECTAc.5972A>C (p.Lys1991Thr)
c.5957A>C (p.Lys1986Thr)
c.3264A>C
n.2352A>C
c.6914A>C (p.Lys2305Thr)
11g.121168898A>GCA383037026TBCEL-TECTA,TECTAc.5972A>G (p.Lys1991Arg)
c.5957A>G (p.Lys1986Arg)
c.3264A>G
n.2352A>G
c.6914A>G (p.Lys2305Arg)
11g.121168898A>TCA383037027TBCEL-TECTA,TECTAc.5972A>T (p.Lys1991Met)
c.5957A>T (p.Lys1986Met)
c.3264A>T
n.2352A>T
c.6914A>T (p.Lys2305Met)
11g.121168899G>ACA477383543TBCEL-TECTA,TECTAc.5973G>A (p.Lys1991=)
c.5958G>A (p.Lys1986=)
c.3265G>A
n.2353G>A
c.6915G>A (p.Lys2305=)
11g.121168899G>CCA383037028TBCEL-TECTA,TECTAc.5973G>C (p.Lys1991Asn)
c.5958G>C (p.Lys1986Asn)
c.3265G>C
n.2353G>C
c.6915G>C (p.Lys2305Asn)
11g.121168899G>TCA383037029TBCEL-TECTA,TECTAc.5973G>T (p.Lys1991Asn)
c.5958G>T (p.Lys1986Asn)
c.3265G>T
n.2353G>T
c.6915G>T (p.Lys2305Asn)
11g.121168900C>ACA383037031TBCEL-TECTA,TECTAc.5974C>A (p.Leu1992Ile)
c.5959C>A (p.Leu1987Ile)
c.3266C>A
n.2354C>A
c.6916C>A (p.Leu2306Ile)
11g.121168900C=CA2004752708TBCEL-TECTA,TECTAc.5974C= (p.Leu1992=)
c.5959C= (p.Leu1987=)
c.3266C=
n.2354C=
c.6916C= (p.Leu2306=)
11g.121168900C>GCA383037032TBCEL-TECTA,TECTAc.5974C>G (p.Leu1992Val)
c.5959C>G (p.Leu1987Val)
c.3266C>G
n.2354C>G
c.6916C>G (p.Leu2306Val)
11g.121168900C>TCA383037030TBCEL-TECTA,TECTAc.5974C>T (p.Leu1992Phe)
c.5959C>T (p.Leu1987Phe)
c.3266C>T
n.2354C>T
c.6916C>T (p.Leu2306Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.121168901T>ACA383037033TBCEL-TECTA,TECTAc.5975T>A (p.Leu1992His)
c.5960T>A (p.Leu1987His)
c.3267T>A
n.2355T>A
c.6917T>A (p.Leu2306His)
11g.121168901T>CCA383037034TBCEL-TECTA,TECTAc.5975T>C (p.Leu1992Pro)
c.5960T>C (p.Leu1987Pro)
c.3267T>C
n.2355T>C
c.6917T>C (p.Leu2306Pro)
11g.121168901T>GCA383037035TBCEL-TECTA,TECTAc.5975T>G (p.Leu1992Arg)
c.5960T>G (p.Leu1987Arg)
c.3267T>G
n.2355T>G
c.6917T>G (p.Leu2306Arg)
11g.121168902C>ACA477383547TBCEL-TECTA,TECTAc.5976C>A (p.Leu1992=)
c.5961C>A (p.Leu1987=)
c.3268C>A
n.2356C>A
c.6918C>A (p.Leu2306=)
11g.121168902C>GCA477383549TBCEL-TECTA,TECTAc.5976C>G (p.Leu1992=)
c.5961C>G (p.Leu1987=)
c.3268C>G
n.2356C>G
c.6918C>G (p.Leu2306=)
11g.121168902C>TCA477383548TBCEL-TECTA,TECTAc.5976C>T (p.Leu1992=)
c.5961C>T (p.Leu1987=)
c.3268C>T
n.2356C>T
c.6918C>T (p.Leu2306=)
 gnomAD v3 gnomAD v4
11g.121168903C>ACA477383550TBCEL-TECTA,TECTAc.5977C>A (p.Arg1993=)
c.5962C>A (p.Arg1988=)
c.3269C>A
n.2357C>A
c.6919C>A (p.Arg2307=)
11g.121168903C=CA2004752717TBCEL-TECTA,TECTAc.5977C= (p.Arg1993=)
c.5962C= (p.Arg1988=)
c.3269C=
n.2357C=
c.6919C= (p.Arg2307=)
11g.121168903C>GCA383037036TBCEL-TECTA,TECTAc.5977C>G (p.Arg1993Gly)
c.5962C>G (p.Arg1988Gly)
c.3269C>G
n.2357C>G
c.6919C>G (p.Arg2307Gly)
11g.121168903C>TCA6327846TBCEL-TECTA,TECTAc.5977C>T (p.Arg1993Ter)
c.5962C>T (p.Arg1988Ter)
c.3269C>T
n.2357C>T
c.6919C>T (p.Arg2307Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168904G>ACA6327847TBCEL-TECTA,TECTAc.5978G>A (p.Arg1993Gln)
c.5963G>A (p.Arg1988Gln)
c.3270G>A
n.2358G>A
c.6920G>A (p.Arg2307Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168904G>CCA383037037TBCEL-TECTA,TECTAc.5978G>C (p.Arg1993Pro)
c.5963G>C (p.Arg1988Pro)
c.3270G>C
n.2358G>C
c.6920G>C (p.Arg2307Pro)
11g.121168904G=CA2004752724TBCEL-TECTA,TECTAc.5978G= (p.Arg1993=)
c.5963G= (p.Arg1988=)
c.3270G=
n.2358G=
c.6920G= (p.Arg2307=)
11g.121168904G>TCA383037038TBCEL-TECTA,TECTAc.5978G>T (p.Arg1993Leu)
c.5963G>T (p.Arg1988Leu)
c.3270G>T
n.2358G>T
c.6920G>T (p.Arg2307Leu)
11g.121168905A>CCA477383553TBCEL-TECTA,TECTAc.5979A>C (p.Arg1993=)
c.5964A>C (p.Arg1988=)
c.3271A>C
n.2359A>C
c.6921A>C (p.Arg2307=)
11g.121168905A>GCA477383554TBCEL-TECTA,TECTAc.5979A>G (p.Arg1993=)
c.5964A>G (p.Arg1988=)
c.3271A>G
n.2359A>G
c.6921A>G (p.Arg2307=)
11g.121168905A>TCA477383552TBCEL-TECTA,TECTAc.5979A>T (p.Arg1993=)
c.5964A>T (p.Arg1988=)
c.3271A>T
n.2359A>T
c.6921A>T (p.Arg2307=)
11g.121168906T>ACA383037039TBCEL-TECTA,TECTAc.5980T>A (p.Tyr1994Asn)
c.5965T>A (p.Tyr1989Asn)
c.3272T>A
n.2360T>A
c.6922T>A (p.Tyr2308Asn)
11g.121168906T>CCA383037040TBCEL-TECTA,TECTAc.5980T>C (p.Tyr1994His)
c.5965T>C (p.Tyr1989His)
c.3272T>C
n.2360T>C
c.6922T>C (p.Tyr2308His)
 gnomAD v4
11g.121168906T>GCA383037041TBCEL-TECTA,TECTAc.5980T>G (p.Tyr1994Asp)
c.5965T>G (p.Tyr1989Asp)
c.3272T>G
n.2360T>G
c.6922T>G (p.Tyr2308Asp)
11g.121168907A>CCA383037042TBCEL-TECTA,TECTAc.5981A>C (p.Tyr1994Ser)
c.5966A>C (p.Tyr1989Ser)
c.3273A>C
n.2361A>C
c.6923A>C (p.Tyr2308Ser)
11g.121168907A>GCA383037043TBCEL-TECTA,TECTAc.5981A>G (p.Tyr1994Cys)
c.5966A>G (p.Tyr1989Cys)
c.3273A>G
n.2361A>G
c.6923A>G (p.Tyr2308Cys)
11g.121168907A>TCA383037044TBCEL-TECTA,TECTAc.5981A>T (p.Tyr1994Phe)
c.5966A>T (p.Tyr1989Phe)
c.3273A>T
n.2361A>T
c.6923A>T (p.Tyr2308Phe)
11g.121168908T>ACA383037045TBCEL-TECTA,TECTAc.5982T>A (p.Tyr1994Ter)
c.5967T>A (p.Tyr1989Ter)
c.3274T>A
n.2362T>A
c.6924T>A (p.Tyr2308Ter)
11g.121168908T>CCA477383556TBCEL-TECTA,TECTAc.5982T>C (p.Tyr1994=)
c.5967T>C (p.Tyr1989=)
c.3274T>C
n.2362T>C
c.6924T>C (p.Tyr2308=)
11g.121168908T>GCA383037046TBCEL-TECTA,TECTAc.5982T>G (p.Tyr1994Ter)
c.5967T>G (p.Tyr1989Ter)
c.3274T>G
n.2362T>G
c.6924T>G (p.Tyr2308Ter)
11g.121168909T>ACA383037047TBCEL-TECTA,TECTAc.5983T>A (p.Phe1995Ile)
c.5968T>A (p.Phe1990Ile)
c.3275T>A
n.2363T>A
c.6925T>A (p.Phe2309Ile)
11g.121168909T>CCA383037048TBCEL-TECTA,TECTAc.5983T>C (p.Phe1995Leu)
c.5968T>C (p.Phe1990Leu)
c.3275T>C
n.2363T>C
c.6925T>C (p.Phe2309Leu)
11g.121168909T>GCA383037049TBCEL-TECTA,TECTAc.5983T>G (p.Phe1995Val)
c.5968T>G (p.Phe1990Val)
c.3275T>G
n.2363T>G
c.6925T>G (p.Phe2309Val)
11g.121168910T>ACA383037050TBCEL-TECTA,TECTAc.5984T>A (p.Phe1995Tyr)
c.5969T>A (p.Phe1990Tyr)
c.3276T>A
n.2364T>A
c.6926T>A (p.Phe2309Tyr)
11g.121168910T>CCA383037051TBCEL-TECTA,TECTAc.5984T>C (p.Phe1995Ser)
c.5969T>C (p.Phe1990Ser)
c.3276T>C
n.2364T>C
c.6926T>C (p.Phe2309Ser)
11g.121168910T>GCA383037052TBCEL-TECTA,TECTAc.5984T>G (p.Phe1995Cys)
c.5969T>G (p.Phe1990Cys)
c.3276T>G
n.2364T>G
c.6926T>G (p.Phe2309Cys)
11g.121168911C>ACA383037053TBCEL-TECTA,TECTAc.5985C>A (p.Phe1995Leu)
c.5970C>A (p.Phe1990Leu)
c.3277C>A
n.2365C>A
c.6927C>A (p.Phe2309Leu)
11g.121168911C>GCA383037054TBCEL-TECTA,TECTAc.5985C>G (p.Phe1995Leu)
c.5970C>G (p.Phe1990Leu)
c.3277C>G
n.2365C>G
c.6927C>G (p.Phe2309Leu)
11g.121168911C>TCA477383559TBCEL-TECTA,TECTAc.5985C>T (p.Phe1995=)
c.5970C>T (p.Phe1990=)
c.3277C>T
n.2365C>T
c.6927C>T (p.Phe2309=)
11g.121168912A=CA2004752729TBCEL-TECTA,TECTAc.5986A= (p.Ile1996=)
c.5971A= (p.Ile1991=)
c.3278A=
n.2366A=
c.6928A= (p.Ile2310=)
11g.121168912A>CCA6327848TBCEL-TECTA,TECTAc.5986A>C (p.Ile1996Leu)
c.5971A>C (p.Ile1991Leu)
c.3278A>C
n.2366A>C
c.6928A>C (p.Ile2310Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168912A>GCA383037055TBCEL-TECTA,TECTAc.5986A>G (p.Ile1996Val)
c.5971A>G (p.Ile1991Val)
c.3278A>G
n.2366A>G
c.6928A>G (p.Ile2310Val)
 ClinVar dbSNP gnomAD v4
11g.121168912A>TCA383037056TBCEL-TECTA,TECTAc.5986A>T (p.Ile1996Phe)
c.5971A>T (p.Ile1991Phe)
c.3278A>T
n.2366A>T
c.6928A>T (p.Ile2310Phe)
 dbSNP
11g.121168913T>ACA383037057TBCEL-TECTA,TECTAc.5987T>A (p.Ile1996Asn)
c.5972T>A (p.Ile1991Asn)
c.3279T>A
n.2367T>A
c.6929T>A (p.Ile2310Asn)
11g.121168913T>CCA383037058TBCEL-TECTA,TECTAc.5987T>C (p.Ile1996Thr)
c.5972T>C (p.Ile1991Thr)
c.3279T>C
n.2367T>C
c.6929T>C (p.Ile2310Thr)
11g.121168913T>GCA383037059TBCEL-TECTA,TECTAc.5987T>G (p.Ile1996Ser)
c.5972T>G (p.Ile1991Ser)
c.3279T>G
n.2367T>G
c.6929T>G (p.Ile2310Ser)
11g.121168914C>ACA477383563TBCEL-TECTA,TECTAc.5988C>A (p.Ile1996=)
c.5973C>A (p.Ile1991=)
c.3280C>A
n.2368C>A
c.6930C>A (p.Ile2310=)
11g.121168914C>GCA383037060TBCEL-TECTA,TECTAc.5988C>G (p.Ile1996Met)
c.5973C>G (p.Ile1991Met)
c.3280C>G
n.2368C>G
c.6930C>G (p.Ile2310Met)
11g.121168914C>TCA477383564TBCEL-TECTA,TECTAc.5988C>T (p.Ile1996=)
c.5973C>T (p.Ile1991=)
c.3280C>T
n.2368C>T
c.6930C>T (p.Ile2310=)
11g.121168915A>CCA383037062TBCEL-TECTA,TECTAc.5989A>C (p.Ile1997Leu)
c.5974A>C (p.Ile1992Leu)
c.3281A>C
n.2369A>C
c.6931A>C (p.Ile2311Leu)
11g.121168915A>GCA383037061TBCEL-TECTA,TECTAc.5989A>G (p.Ile1997Val)
c.5974A>G (p.Ile1992Val)
c.3281A>G
n.2369A>G
c.6931A>G (p.Ile2311Val)
11g.121168915A>TCA383037063TBCEL-TECTA,TECTAc.5989A>T (p.Ile1997Phe)
c.5974A>T (p.Ile1992Phe)
c.3281A>T
n.2369A>T
c.6931A>T (p.Ile2311Phe)
11g.121168916T>ACA383037064TBCEL-TECTA,TECTAc.5990T>A (p.Ile1997Asn)
c.5975T>A (p.Ile1992Asn)
c.3282T>A
n.2370T>A
c.6932T>A (p.Ile2311Asn)
11g.121168916T>CCA6327849TBCEL-TECTA,TECTAc.5990T>C (p.Ile1997Thr)
c.5975T>C (p.Ile1992Thr)
c.3282T>C
n.2370T>C
c.6932T>C (p.Ile2311Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168916T>GCA383037065TBCEL-TECTA,TECTAc.5990T>G (p.Ile1997Ser)
c.5975T>G (p.Ile1992Ser)
c.3282T>G
n.2370T>G
c.6932T>G (p.Ile2311Ser)
11g.121168916T=CA2004752737TBCEL-TECTA,TECTAc.5990T= (p.Ile1997=)
c.5975T= (p.Ile1992=)
c.3282T=
n.2370T=
c.6932T= (p.Ile2311=)
11g.121168917T>ACA477383566TBCEL-TECTA,TECTAc.5991T>A (p.Ile1997=)
c.5976T>A (p.Ile1992=)
c.3283T>A
n.2371T>A
c.6933T>A (p.Ile2311=)
11g.121168917T>CCA477383567TBCEL-TECTA,TECTAc.5991T>C (p.Ile1997=)
c.5976T>C (p.Ile1992=)
c.3283T>C
n.2371T>C
c.6933T>C (p.Ile2311=)
 gnomAD v4
11g.121168917T>GCA383037066TBCEL-TECTA,TECTAc.5991T>G (p.Ile1997Met)
c.5976T>G (p.Ile1992Met)
c.3283T>G
n.2371T>G
c.6933T>G (p.Ile2311Met)
11g.121168918G>ACA383037067TBCEL-TECTA,TECTAc.5992G>A (p.Glu1998Lys)
c.5977G>A (p.Glu1993Lys)
c.3284G>A
n.2372G>A
c.6934G>A (p.Glu2312Lys)
11g.121168918G>CCA383037068TBCEL-TECTA,TECTAc.5992G>C (p.Glu1998Gln)
c.5977G>C (p.Glu1993Gln)
c.3284G>C
n.2372G>C
c.6934G>C (p.Glu2312Gln)
11g.121168918G>TCA383037069TBCEL-TECTA,TECTAc.5992G>T (p.Glu1998Ter)
c.5977G>T (p.Glu1993Ter)
c.3284G>T
n.2372G>T
c.6934G>T (p.Glu2312Ter)
11g.121168919A>CCA383037070TBCEL-TECTA,TECTAc.5993A>C (p.Glu1998Ala)
c.5978A>C (p.Glu1993Ala)
c.3285A>C
n.2373A>C
c.6935A>C (p.Glu2312Ala)
11g.121168919A>GCA383037071TBCEL-TECTA,TECTAc.5993A>G (p.Glu1998Gly)
c.5978A>G (p.Glu1993Gly)
c.3285A>G
n.2373A>G
c.6935A>G (p.Glu2312Gly)
11g.121168919A>TCA383037072TBCEL-TECTA,TECTAc.5993A>T (p.Glu1998Val)
c.5978A>T (p.Glu1993Val)
c.3285A>T
n.2373A>T
c.6935A>T (p.Glu2312Val)
11g.121168920A>CCA383037073TBCEL-TECTA,TECTAc.5994A>C (p.Glu1998Asp)
c.5979A>C (p.Glu1993Asp)
c.3286A>C
n.2374A>C
c.6936A>C (p.Glu2312Asp)
11g.121168920A>GCA477383568TBCEL-TECTA,TECTAc.5994A>G (p.Glu1998=)
c.5979A>G (p.Glu1993=)
c.3286A>G
n.2374A>G
c.6936A>G (p.Glu2312=)
11g.121168920A>TCA383037074TBCEL-TECTA,TECTAc.5994A>T (p.Glu1998Asp)
c.5979A>T (p.Glu1993Asp)
c.3286A>T
n.2374A>T
c.6936A>T (p.Glu2312Asp)
11g.121168921G>ACA383037077TBCEL-TECTA,TECTAc.5995G>A (p.Gly1999Arg)
c.5980G>A (p.Gly1994Arg)
c.3287G>A
n.2375G>A
c.6937G>A (p.Gly2313Arg)
11g.121168921G>CCA383037075TBCEL-TECTA,TECTAc.5995G>C (p.Gly1999Arg)
c.5980G>C (p.Gly1994Arg)
c.3287G>C
n.2375G>C
c.6937G>C (p.Gly2313Arg)
11g.121168921G>TCA383037076TBCEL-TECTA,TECTAc.5995G>T (p.Gly1999Ter)
c.5980G>T (p.Gly1994Ter)
c.3287G>T
n.2375G>T
c.6937G>T (p.Gly2313Ter)
11g.121168922G>ACA383037078TBCEL-TECTA,TECTAc.5996G>A (p.Gly1999Glu)
c.5981G>A (p.Gly1994Glu)
c.3288G>A
n.2376G>A
c.6938G>A (p.Gly2313Glu)
11g.121168922G>CCA383037079TBCEL-TECTA,TECTAc.5996G>C (p.Gly1999Ala)
c.5981G>C (p.Gly1994Ala)
c.3288G>C
n.2376G>C
c.6938G>C (p.Gly2313Ala)
11g.121168922G>TCA383037080TBCEL-TECTA,TECTAc.5996G>T (p.Gly1999Val)
c.5981G>T (p.Gly1994Val)
c.3288G>T
n.2376G>T
c.6938G>T (p.Gly2313Val)
11g.121168923A=CA2004752745TBCEL-TECTA,TECTAc.5997A= (p.Gly1999=)
c.5982A= (p.Gly1994=)
c.3289A=
n.2377A=
c.6939A= (p.Gly2313=)
11g.121168923A>CCA477383573TBCEL-TECTA,TECTAc.5997A>C (p.Gly1999=)
c.5982A>C (p.Gly1994=)
c.3289A>C
n.2377A>C
c.6939A>C (p.Gly2313=)
11g.121168923A>GCA477383574TBCEL-TECTA,TECTAc.5997A>G (p.Gly1999=)
c.5982A>G (p.Gly1994=)
c.3289A>G
n.2377A>G
c.6939A>G (p.Gly2313=)
 dbSNP
11g.121168923A>TCA477383572TBCEL-TECTA,TECTAc.5997A>T (p.Gly1999=)
c.5982A>T (p.Gly1994=)
c.3289A>T
n.2377A>T
c.6939A>T (p.Gly2313=)
11g.121168924G>ACA383037081TBCEL-TECTA,TECTAc.5998G>A (p.Gly2000Arg)
c.5983G>A (p.Gly1995Arg)
c.3290G>A
n.2378G>A
c.6940G>A (p.Gly2314Arg)
 gnomAD v4
11g.121168924G>CCA383037082TBCEL-TECTA,TECTAc.5998G>C (p.Gly2000Arg)
c.5983G>C (p.Gly1995Arg)
c.3290G>C
n.2378G>C
c.6940G>C (p.Gly2314Arg)
11g.121168924G>TCA383037083TBCEL-TECTA,TECTAc.5998G>T (p.Gly2000Trp)
c.5983G>T (p.Gly1995Trp)
c.3290G>T
n.2378G>T
c.6940G>T (p.Gly2314Trp)
11g.121168926delCA2793889371TBCEL-TECTA,TECTAc.5999+1del
c.5984+1del
c.3291+1del
n.2379+1del
c.6941+1del
11g.121168925G>ACA383037084TBCEL-TECTA,TECTAc.5999G>A (p.Gly2000Glu)
c.5984G>A (p.Gly1995Glu)
c.3291G>A
n.2379G>A
c.6941G>A (p.Gly2314Glu)
 ClinVar dbSNP
11g.121168925G>CCA383037085TBCEL-TECTA,TECTAc.5999G>C (p.Gly2000Ala)
c.5984G>C (p.Gly1995Ala)
c.3291G>C
n.2379G>C
c.6941G>C (p.Gly2314Ala)
11g.121168925G=CA2004752750TBCEL-TECTA,TECTAc.5999G= (p.Gly2000=)
c.5984G= (p.Gly1995=)
c.3291G=
n.2379G=
c.6941G= (p.Gly2314=)
11g.121168925G>TCA383037086TBCEL-TECTA,TECTAc.5999G>T (p.Gly2000Val)
c.5984G>T (p.Gly1995Val)
c.3291G>T
n.2379G>T
c.6941G>T (p.Gly2314Val)
11g.121168926G>ACA383037087TBCEL-TECTA,TECTAc.5999+1G>A (n.5999+1G>A)
c.5984+1G>A (n.5984+1G>A)
c.3291+1G>A
n.2379+1G>A
c.6941+1G>A (n.6941+1G>A)
11g.121168926G>CCA383037088TBCEL-TECTA,TECTAc.5999+1G>C (n.5999+1G>C)
c.5984+1G>C (n.5984+1G>C)
c.3291+1G>C
n.2379+1G>C
c.6941+1G>C (n.6941+1G>C)
11g.121168926G>TCA383037089TBCEL-TECTA,TECTAc.5999+1G>T (n.5999+1G>T)
c.5984+1G>T (n.5984+1G>T)
c.3291+1G>T
n.2379+1G>T
c.6941+1G>T (n.6941+1G>T)
11g.121168927T>ACA383037091TBCEL-TECTA,TECTAc.5999+2T>A (n.5999+2T>A)
c.5984+2T>A (n.5984+2T>A)
c.3291+2T>A
n.2379+2T>A
c.6941+2T>A (n.6941+2T>A)
11g.121168927T>CCA383037092TBCEL-TECTA,TECTAc.5999+2T>C (n.5999+2T>C)
c.5984+2T>C (n.5984+2T>C)
c.3291+2T>C
n.2379+2T>C
c.6941+2T>C (n.6941+2T>C)
 gnomAD v4
11g.121168927T>GCA383037090TBCEL-TECTA,TECTAc.5999+2T>G (n.5999+2T>G)
c.5984+2T>G (n.5984+2T>G)
c.3291+2T>G
n.2379+2T>G
c.6941+2T>G (n.6941+2T>G)
11g.121168930G>ACA2004752764TBCEL-TECTA,TECTAc.5999+5G>A (n.5999+5G>A)
c.5984+5G>A (n.5984+5G>A)
c.3291+5G>A
n.2379+5G>A
c.6941+5G>A (n.6941+5G>A)
 dbSNP
11g.121168930G=CA2004752761TBCEL-TECTA,TECTAc.5999+5G= (n.5999+5G=)
c.5984+5G= (n.5984+5G=)
c.3291+5G=
n.2379+5G=
c.6941+5G= (n.6941+5G=)
11g.121168930G>TCA6327850TBCEL-TECTA,TECTAc.5999+5G>T (n.5999+5G>T)
c.5984+5G>T (n.5984+5G>T)
c.3291+5G>T
n.2379+5G>T
c.6941+5G>T (n.6941+5G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168934C=CA2004752769TBCEL-TECTA,TECTAc.5999+9C= (n.5999+9C=)
c.5984+9C= (n.5984+9C=)
c.3291+9C=
n.2379+9C=
c.6941+9C= (n.6941+9C=)
11g.121168934C>TCA2004752770TBCEL-TECTA,TECTAc.5999+9C>T (n.5999+9C>T)
c.5984+9C>T (n.5984+9C>T)
c.3291+9C>T
n.2379+9C>T
c.6941+9C>T (n.6941+9C>T)
 dbSNP gnomAD v4
11g.121168935C=CA2004752775TBCEL-TECTA,TECTAc.5999+10C= (n.5999+10C=)
c.5984+10C= (n.5984+10C=)
c.3291+10C=
n.2379+10C=
c.6941+10C= (n.6941+10C=)
11g.121168935C>TCA602580329TBCEL-TECTA,TECTAc.5999+10C>T (n.5999+10C>T)
c.5984+10C>T (n.5984+10C>T)
c.3291+10C>T
n.2379+10C>T
c.6941+10C>T (n.6941+10C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121168937C>TCA2616490092TBCEL-TECTA,TECTAc.5999+12C>T (n.5999+12C>T)
c.5984+12C>T (n.5984+12C>T)
c.3291+12C>T
n.2379+12C>T
c.6941+12C>T (n.6941+12C>T)
 gnomAD v4
11g.121168941A>GCA2616490093TBCEL-TECTA,TECTAc.5999+16A>G (n.5999+16A>G)
c.5984+16A>G (n.5984+16A>G)
c.3291+16A>G
n.2379+16A>G
c.6941+16A>G (n.6941+16A>G)
 gnomAD v4
11g.121168942T>CCA602580330TBCEL-TECTA,TECTAc.5999+17T>C (n.5999+17T>C)
c.5984+17T>C (n.5984+17T>C)
c.3291+17T>C
n.2379+17T>C
c.6941+17T>C (n.6941+17T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.121168942T=CA2004752777TBCEL-TECTA,TECTAc.5999+17T= (n.5999+17T=)
c.5984+17T= (n.5984+17T=)
c.3291+17T=
n.2379+17T=
c.6941+17T= (n.6941+17T=)
11g.121168944G>ACA2616490094TBCEL-TECTA,TECTAc.5999+19G>A (n.5999+19G>A)
c.5984+19G>A (n.5984+19G>A)
c.3291+19G>A
n.2379+19G>A
c.6941+19G>A (n.6941+19G>A)
 gnomAD v4
11g.121168944G>CCA6327851TBCEL-TECTA,TECTAc.5999+19G>C (n.5999+19G>C)
c.5984+19G>C (n.5984+19G>C)
c.3291+19G>C
n.2379+19G>C
c.6941+19G>C (n.6941+19G>C)
 dbSNP ExAC gnomAD v2
11g.121168944G=CA2004752779TBCEL-TECTA,TECTAc.5999+19G= (n.5999+19G=)
c.5984+19G= (n.5984+19G=)
c.3291+19G=
n.2379+19G=
c.6941+19G= (n.6941+19G=)
11g.121168946C>ACA2793889372TBCEL-TECTA,TECTAc.5999+21C>A (n.5999+21C>A)
c.5984+21C>A (n.5984+21C>A)
c.3291+21C>A
n.2379+21C>A
c.6941+21C>A (n.6941+21C>A)
11g.121168946C>TCA2616490096TBCEL-TECTA,TECTAc.5999+21C>T (n.5999+21C>T)
c.5984+21C>T (n.5984+21C>T)
c.3291+21C>T
n.2379+21C>T
c.6941+21C>T (n.6941+21C>T)
 gnomAD v4
11g.121168947A=CA2004752783TBCEL-TECTA,TECTAc.5999+22A= (n.5999+22A=)
c.5984+22A= (n.5984+22A=)
c.3291+22A=
n.2379+22A=
c.6941+22A= (n.6941+22A=)
11g.121168947A>CCA6327852TBCEL-TECTA,TECTAc.5999+22A>C (n.5999+22A>C)
c.5984+22A>C (n.5984+22A>C)
c.3291+22A>C
n.2379+22A>C
c.6941+22A>C (n.6941+22A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168947A>GCA2575008648TBCEL-TECTA,TECTAc.5999+22A>G (n.5999+22A>G)
c.5984+22A>G (n.5984+22A>G)
c.3291+22A>G
n.2379+22A>G
c.6941+22A>G (n.6941+22A>G)
11g.121168948A=CA2004752785TBCEL-TECTA,TECTAc.5999+23A= (n.5999+23A=)
c.5984+23A= (n.5984+23A=)
c.3291+23A=
n.2379+23A=
c.6941+23A= (n.6941+23A=)
11g.121168948A>GCA6327853TBCEL-TECTA,TECTAc.5999+23A>G (n.5999+23A>G)
c.5984+23A>G (n.5984+23A>G)
c.3291+23A>G
n.2379+23A>G
c.6941+23A>G (n.6941+23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168949C>ACA672609606TBCEL-TECTA,TECTAc.5999+24C>A (n.5999+24C>A)
c.5984+24C>A (n.5984+24C>A)
c.3291+24C>A
n.2379+24C>A
c.6941+24C>A (n.6941+24C>A)
 dbSNP
11g.121168949C=CA2004752787TBCEL-TECTA,TECTAc.5999+24C= (n.5999+24C=)
c.5984+24C= (n.5984+24C=)
c.3291+24C=
n.2379+24C=
c.6941+24C= (n.6941+24C=)
11g.121168949C>TCA2616490099TBCEL-TECTA,TECTAc.5999+24C>T (n.5999+24C>T)
c.5984+24C>T (n.5984+24C>T)
c.3291+24C>T
n.2379+24C>T
c.6941+24C>T (n.6941+24C>T)
 gnomAD v4
11g.121168953C=CA2004752791TBCEL-TECTA,TECTAc.5999+28C= (n.5999+28C=)
c.5984+28C= (n.5984+28C=)
c.3291+28C=
n.2379+28C=
c.6941+28C= (n.6941+28C=)
11g.121168953C>GCA2616490101TBCEL-TECTA,TECTAc.5999+28C>G (n.5999+28C>G)
c.5984+28C>G (n.5984+28C>G)
c.3291+28C>G
n.2379+28C>G
c.6941+28C>G (n.6941+28C>G)
 gnomAD v4
11g.121168953C>TCA6327854TBCEL-TECTA,TECTAc.5999+28C>T (n.5999+28C>T)
c.5984+28C>T (n.5984+28C>T)
c.3291+28C>T
n.2379+28C>T
c.6941+28C>T (n.6941+28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168954T>ACA602580332TBCEL-TECTA,TECTAc.5999+29T>A (n.5999+29T>A)
c.5984+29T>A (n.5984+29T>A)
c.3291+29T>A
n.2379+29T>A
c.6941+29T>A (n.6941+29T>A)
 dbSNP gnomAD v2 gnomAD v4
11g.121168954T>CCA672609615TBCEL-TECTA,TECTAc.5999+29T>C (n.5999+29T>C)
c.5984+29T>C (n.5984+29T>C)
c.3291+29T>C
n.2379+29T>C
c.6941+29T>C (n.6941+29T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.121168954T>GCA602580331TBCEL-TECTA,TECTAc.5999+29T>G (n.5999+29T>G)
c.5984+29T>G (n.5984+29T>G)
c.3291+29T>G
n.2379+29T>G
c.6941+29T>G (n.6941+29T>G)
 dbSNP gnomAD v2 gnomAD v4
11g.121168954T=CA2004752795TBCEL-TECTA,TECTAc.5999+29T= (n.5999+29T=)
c.5984+29T= (n.5984+29T=)
c.3291+29T=
n.2379+29T=
c.6941+29T= (n.6941+29T=)
11g.121168955C>ACA2616490106TBCEL-TECTA,TECTAc.5999+30C>A (n.5999+30C>A)
c.5984+30C>A (n.5984+30C>A)
c.3291+30C>A
n.2379+30C>A
c.6941+30C>A (n.6941+30C>A)
 gnomAD v4
11g.121168956A>GCA2616490107TBCEL-TECTA,TECTAc.5999+31A>G (n.5999+31A>G)
c.5984+31A>G (n.5984+31A>G)
c.3291+31A>G
n.2379+31A>G
c.6941+31A>G (n.6941+31A>G)
 gnomAD v4
11g.121168958A>GCA2616490108TBCEL-TECTA,TECTAc.5999+33A>G (n.5999+33A>G)
c.5984+33A>G (n.5984+33A>G)
c.3291+33A>G
n.2379+33A>G
c.6941+33A>G (n.6941+33A>G)
 gnomAD v4
11g.121168959G>ACA6327855TBCEL-TECTA,TECTAc.5999+34G>A (n.5999+34G>A)
c.5984+34G>A (n.5984+34G>A)
c.3291+34G>A
n.2379+34G>A
c.6941+34G>A (n.6941+34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168959G>CCA2004752806TBCEL-TECTA,TECTAc.5999+34G>C (n.5999+34G>C)
c.5984+34G>C (n.5984+34G>C)
c.3291+34G>C
n.2379+34G>C
c.6941+34G>C (n.6941+34G>C)
 dbSNP
11g.121168959G=CA2004752798TBCEL-TECTA,TECTAc.5999+34G= (n.5999+34G=)
c.5984+34G= (n.5984+34G=)
c.3291+34G=
n.2379+34G=
c.6941+34G= (n.6941+34G=)
11g.121168960_121168966delCA2616490110TBCEL-TECTA,TECTAc.5999+35_5999+41del (n.5999+35_5999+41del)
c.5984+35_5984+41del (n.5984+35_5984+41del)
c.3291+35_3291+41del
n.2379+35_2379+41del
c.6941+35_6941+41del (n.6941+35_6941+41del)
 gnomAD v4
11g.121168960C>ACA2616490113TBCEL-TECTA,TECTAc.5999+35C>A (n.5999+35C>A)
c.5984+35C>A (n.5984+35C>A)
c.3291+35C>A
n.2379+35C>A
c.6941+35C>A (n.6941+35C>A)
 gnomAD v4
11g.121168960C=CA2004752811TBCEL-TECTA,TECTAc.5999+35C= (n.5999+35C=)
c.5984+35C= (n.5984+35C=)
c.3291+35C=
n.2379+35C=
c.6941+35C= (n.6941+35C=)
11g.121168960C>TCA602580333TBCEL-TECTA,TECTAc.5999+35C>T (n.5999+35C>T)
c.5984+35C>T (n.5984+35C>T)
c.3291+35C>T
n.2379+35C>T
c.6941+35C>T (n.6941+35C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121168963C=CA2004752814TBCEL-TECTA,TECTAc.5999+38C= (n.5999+38C=)
c.5984+38C= (n.5984+38C=)
c.3291+38C=
n.2379+38C=
c.6941+38C= (n.6941+38C=)
11g.121168963C>GCA229853546TBCEL-TECTA,TECTAc.5999+38C>G (n.5999+38C>G)
c.5984+38C>G (n.5984+38C>G)
c.3291+38C>G
n.2379+38C>G
c.6941+38C>G (n.6941+38C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168964A=CA2004752817TBCEL-TECTA,TECTAc.5999+39A= (n.5999+39A=)
c.5984+39A= (n.5984+39A=)
c.3291+39A=
n.2379+39A=
c.6941+39A= (n.6941+39A=)
11g.121168964A>GCA602580334TBCEL-TECTA,TECTAc.5999+39A>G (n.5999+39A>G)
c.5984+39A>G (n.5984+39A>G)
c.3291+39A>G
n.2379+39A>G
c.6941+39A>G (n.6941+39A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168966G>ACA2724945449TBCEL-TECTA,TECTAc.5999+41G>A (n.5999+41G>A)
c.5984+41G>A (n.5984+41G>A)
c.3291+41G>A
n.2379+41G>A
c.6941+41G>A (n.6941+41G>A)
 dbSNP
11g.121168966G=CA2004752824TBCEL-TECTA,TECTAc.5999+41G= (n.5999+41G=)
c.5984+41G= (n.5984+41G=)
c.3291+41G=
n.2379+41G=
c.6941+41G= (n.6941+41G=)
11g.121168966G>TCA6327856TBCEL-TECTA,TECTAc.5999+41G>T (n.5999+41G>T)
c.5984+41G>T (n.5984+41G>T)
c.3291+41G>T
n.2379+41G>T
c.6941+41G>T (n.6941+41G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168968A=CA2004752830TBCEL-TECTA,TECTAc.5999+43A= (n.5999+43A=)
c.5984+43A= (n.5984+43A=)
c.3291+43A=
n.2379+43A=
c.6941+43A= (n.6941+43A=)
11g.121168968A>GCA229853569TBCEL-TECTA,TECTAc.5999+43A>G (n.5999+43A>G)
c.5984+43A>G (n.5984+43A>G)
c.3291+43A>G
n.2379+43A>G
c.6941+43A>G (n.6941+43A>G)
 dbSNP
11g.121168970A>TCA2616490117TBCEL-TECTA,TECTAc.5999+45A>T (n.5999+45A>T)
c.5984+45A>T (n.5984+45A>T)
c.3291+45A>T
n.2379+45A>T
c.6941+45A>T (n.6941+45A>T)
 gnomAD v4
11g.121168971A=CA2004752833TBCEL-TECTA,TECTAc.5999+46A= (n.5999+46A=)
c.5984+46A= (n.5984+46A=)
c.3291+46A=
n.2379+46A=
c.6941+46A= (n.6941+46A=)
11g.121168971A>GCA602580335TBCEL-TECTA,TECTAc.5999+46A>G (n.5999+46A>G)
c.5984+46A>G (n.5984+46A>G)
c.3291+46A>G
n.2379+46A>G
c.6941+46A>G (n.6941+46A>G)
 dbSNP gnomAD v2
11g.121168971A>TCA2616490118TBCEL-TECTA,TECTAc.5999+46A>T (n.5999+46A>T)
c.5984+46A>T (n.5984+46A>T)
c.3291+46A>T
n.2379+46A>T
c.6941+46A>T (n.6941+46A>T)
 gnomAD v4
11g.121168972T>CCA229853576TBCEL-TECTA,TECTAc.5999+47T>C (n.5999+47T>C)
c.5984+47T>C (n.5984+47T>C)
c.3291+47T>C
n.2379+47T>C
c.6941+47T>C (n.6941+47T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.121168972T=CA2004752837TBCEL-TECTA,TECTAc.5999+47T= (n.5999+47T=)
c.5984+47T= (n.5984+47T=)
c.3291+47T=
n.2379+47T=
c.6941+47T= (n.6941+47T=)
11g.121168974T>CCA6327857TBCEL-TECTA,TECTAc.5999+49T>C (n.5999+49T>C)
c.5984+49T>C (n.5984+49T>C)
c.3291+49T>C
n.2379+49T>C
c.6941+49T>C (n.6941+49T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168974T=CA2004752842TBCEL-TECTA,TECTAc.5999+49T= (n.5999+49T=)
c.5984+49T= (n.5984+49T=)
c.3291+49T=
n.2379+49T=
c.6941+49T= (n.6941+49T=)
11g.121168975delCA2616490119TBCEL-TECTA,TECTAc.5999+50del (n.5999+50del)
c.5984+50del (n.5984+50del)
c.3291+50del
n.2379+50del
c.6941+50del (n.6941+50del)
 gnomAD v4
11g.121168975T>CCA6327858TBCEL-TECTA,TECTAc.5999+50T>C (n.5999+50T>C)
c.5984+50T>C (n.5984+50T>C)
c.3291+50T>C
n.2379+50T>C
c.6941+50T>C (n.6941+50T>C)
 dbSNP ExAC gnomAD v4
11g.121168975T=CA2004752844TBCEL-TECTA,TECTAc.5999+50T= (n.5999+50T=)
c.5984+50T= (n.5984+50T=)
c.3291+50T=
n.2379+50T=
c.6941+50T= (n.6941+50T=)
11g.121168976G=CA2004752847TBCEL-TECTA,TECTAc.5999+51G= (n.5999+51G=)
c.5984+51G= (n.5984+51G=)
c.3291+51G=
n.2379+51G=
c.6941+51G= (n.6941+51G=)
11g.121168976G>TCA602580336TBCEL-TECTA,TECTAc.5999+51G>T (n.5999+51G>T)
c.5984+51G>T (n.5984+51G>T)
c.3291+51G>T
n.2379+51G>T
c.6941+51G>T (n.6941+51G>T)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched