Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12777953_12777954insCCACA2558995346USP9Yc.2640-66_2640-65insCCA (n.2640-66_2640-65insCCA)
n.2652-66_2652-65insCCA
c.2406-66_2406-65insCCA (n.2406-66_2406-65insCCA)
c.2655-66_2655-65insCCA (n.2655-66_2655-65insCCA)
Yg.12777954_12777955insTTATACA2548557199USP9Yc.2640-65_2640-64insTTATA (n.2640-65_2640-64insTTATA)
n.2652-65_2652-64insTTATA
c.2406-65_2406-64insTTATA (n.2406-65_2406-64insTTATA)
c.2655-65_2655-64insTTATA (n.2655-65_2655-64insTTATA)
Yg.12777955G>TCA1139769286USP9Yc.2640-64G>T (n.2640-64G>T)
n.2652-64G>T
c.2406-64G>T (n.2406-64G>T)
c.2655-64G>T (n.2655-64G>T)
Yg.12777956C>GCA2534166921USP9Yc.2640-63C>G (n.2640-63C>G)
n.2652-63C>G
c.2406-63C>G (n.2406-63C>G)
c.2655-63C>G (n.2655-63C>G)
Yg.12777956C>TCA2766241281USP9Yc.2640-63C>T (n.2640-63C>T)
n.2652-63C>T
c.2406-63C>T (n.2406-63C>T)
c.2655-63C>T (n.2655-63C>T)
Yg.12777960A>GCA2579747777USP9Yc.2640-59A>G (n.2640-59A>G)
n.2652-59A>G
c.2406-59A>G (n.2406-59A>G)
c.2655-59A>G (n.2655-59A>G)
 gnomAD v3 gnomAD v4
Yg.12777961delCA2548812111USP9Yc.2640-58del (n.2640-58del)
n.2652-58del
c.2406-58del (n.2406-58del)
c.2655-58del (n.2655-58del)
Yg.12777961T>CCA2579747778USP9Yc.2640-58T>C (n.2640-58T>C)
n.2652-58T>C
c.2406-58T>C (n.2406-58T>C)
c.2655-58T>C (n.2655-58T>C)
Yg.12777963T>ACA2513918080USP9Yc.2640-56T>A (n.2640-56T>A)
n.2652-56T>A
c.2406-56T>A (n.2406-56T>A)
c.2655-56T>A (n.2655-56T>A)
Yg.12777964C>TCA2579747779USP9Yc.2640-55C>T (n.2640-55C>T)
n.2652-55C>T
c.2406-55C>T (n.2406-55C>T)
c.2655-55C>T (n.2655-55C>T)
Yg.12777967delCA2563574495USP9Yc.2640-52del (n.2640-52del)
n.2652-52del
c.2406-52del (n.2406-52del)
c.2655-52del (n.2655-52del)
Yg.12777968G>ACA2579747780USP9Yc.2640-51G>A (n.2640-51G>A)
n.2652-51G>A
c.2406-51G>A (n.2406-51G>A)
c.2655-51G>A (n.2655-51G>A)
Yg.12777968G>TCA2509848899USP9Yc.2640-51G>T (n.2640-51G>T)
n.2652-51G>T
c.2406-51G>T (n.2406-51G>T)
c.2655-51G>T (n.2655-51G>T)
Yg.12777969T>CCA2766241282USP9Yc.2640-50T>C (n.2640-50T>C)
n.2652-50T>C
c.2406-50T>C (n.2406-50T>C)
c.2655-50T>C (n.2655-50T>C)
Yg.12777971delCA2579747781USP9Yc.2640-48del (n.2640-48del)
n.2652-48del
c.2406-48del (n.2406-48del)
c.2655-48del (n.2655-48del)
Yg.12777971G=CA2470557517USP9Yc.2640-48G= (n.2640-48G=)
n.2652-48G=
c.2406-48G= (n.2406-48G=)
c.2655-48G= (n.2655-48G=)
Yg.12777971G>TCA1139183188USP9Yc.2640-48G>T (n.2640-48G>T)
n.2652-48G>T
c.2406-48G>T (n.2406-48G>T)
c.2655-48G>T (n.2655-48G>T)
 dbSNP gnomAD v3 gnomAD v4
Yg.12777971_12777977delCA2558996609USP9Yc.2640-48_2640-42del (n.2640-48_2640-42del)
n.2652-48_2652-42del
c.2406-48_2406-42del (n.2406-48_2406-42del)
c.2655-48_2655-42del (n.2655-48_2655-42del)
Yg.12777977dupCA10573186USP9Yc.2640-42dup (n.2640-42dup)
n.2652-42dup
c.2406-42dup (n.2406-42dup)
c.2655-42dup (n.2655-42dup)
 dbSNP ExAC gnomAD v2
Yg.12777973T>GCA2824885755USP9Yc.2640-46T>G (n.2640-46T>G)
n.2652-46T>G
c.2406-46T>G (n.2406-46T>G)
c.2655-46T>G (n.2655-46T>G)
Yg.12777976T>CCA645293687USP9Yc.2640-43T>C (n.2640-43T>C)
n.2652-43T>C
c.2406-43T>C (n.2406-43T>C)
c.2655-43T>C (n.2655-43T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.12777976T=CA2470557518USP9Yc.2640-43T= (n.2640-43T=)
n.2652-43T=
c.2406-43T= (n.2406-43T=)
c.2655-43T= (n.2655-43T=)
Yg.12777978C>ACA10573187USP9Yc.2640-41C>A (n.2640-41C>A)
n.2652-41C>A
c.2406-41C>A (n.2406-41C>A)
c.2655-41C>A (n.2655-41C>A)
 dbSNP ExAC gnomAD v2
Yg.12777978C=CA2470557519USP9Yc.2640-41C= (n.2640-41C=)
n.2652-41C=
c.2406-41C= (n.2406-41C=)
c.2655-41C= (n.2655-41C=)
Yg.12777978C>GCA2824885756USP9Yc.2640-41C>G (n.2640-41C>G)
n.2652-41C>G
c.2406-41C>G (n.2406-41C>G)
c.2655-41C>G (n.2655-41C>G)
Yg.12777978C>TCA1139769287USP9Yc.2640-41C>T (n.2640-41C>T)
n.2652-41C>T
c.2406-41C>T (n.2406-41C>T)
c.2655-41C>T (n.2655-41C>T)
Yg.12777979T>ACA337719942USP9Yc.2640-40T>A (n.2640-40T>A)
n.2652-40T>A
c.2406-40T>A (n.2406-40T>A)
c.2655-40T>A (n.2655-40T>A)
 dbSNP
Yg.12777979T=CA2470557520USP9Yc.2640-40T= (n.2640-40T=)
n.2652-40T=
c.2406-40T= (n.2406-40T=)
c.2655-40T= (n.2655-40T=)
Yg.12777985dupCA2542482131USP9Yc.2640-34dup (n.2640-34dup)
n.2652-34dup
c.2406-34dup (n.2406-34dup)
c.2655-34dup (n.2655-34dup)
Yg.12777985T>ACA10573188USP9Yc.2640-34T>A (n.2640-34T>A)
n.2652-34T>A
c.2406-34T>A (n.2406-34T>A)
c.2655-34T>A (n.2655-34T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12777985T=CA2470557521USP9Yc.2640-34T= (n.2640-34T=)
n.2652-34T=
c.2406-34T= (n.2406-34T=)
c.2655-34T= (n.2655-34T=)
Yg.12777986A=CA2470557522USP9Yc.2640-33A= (n.2640-33A=)
n.2652-33A=
c.2406-33A= (n.2406-33A=)
c.2655-33A= (n.2655-33A=)
Yg.12777986A>TCA10573189USP9Yc.2640-33A>T (n.2640-33A>T)
n.2652-33A>T
c.2406-33A>T (n.2406-33A>T)
c.2655-33A>T (n.2655-33A>T)
 dbSNP ExAC gnomAD v2
Yg.12777986_12777988delinsTTTCA1139769288USP9Yc.2640-33_2640-31delinsTTT (n.2640-33_2640-31delinsTTT)
n.2652-33_2652-31delinsTTT
c.2406-33_2406-31delinsTTT (n.2406-33_2406-31delinsTTT)
c.2655-33_2655-31delinsTTT (n.2655-33_2655-31delinsTTT)
Yg.12777987A>CCA1139183196USP9Yc.2640-32A>C (n.2640-32A>C)
n.2652-32A>C
c.2406-32A>C (n.2406-32A>C)
c.2655-32A>C (n.2655-32A>C)
 gnomAD v3 gnomAD v4
Yg.12777987A>GCA2513988796USP9Yc.2640-32A>G (n.2640-32A>G)
n.2652-32A>G
c.2406-32A>G (n.2406-32A>G)
c.2655-32A>G (n.2655-32A>G)
Yg.12777987A>TCA1139769289USP9Yc.2640-32A>T (n.2640-32A>T)
n.2652-32A>T
c.2406-32A>T (n.2406-32A>T)
c.2655-32A>T (n.2655-32A>T)
Yg.12777988A>TCA1139769290USP9Yc.2640-31A>T (n.2640-31A>T)
n.2652-31A>T
c.2406-31A>T (n.2406-31A>T)
c.2655-31A>T (n.2655-31A>T)
Yg.12777992C>ACA2824885757USP9Yc.2640-27C>A (n.2640-27C>A)
n.2652-27C>A
c.2406-27C>A (n.2406-27C>A)
c.2655-27C>A (n.2655-27C>A)
Yg.12777992C>GCA2824885758USP9Yc.2640-27C>G (n.2640-27C>G)
n.2652-27C>G
c.2406-27C>G (n.2406-27C>G)
c.2655-27C>G (n.2655-27C>G)
Yg.12777992C>TCA1139769291USP9Yc.2640-27C>T (n.2640-27C>T)
n.2652-27C>T
c.2406-27C>T (n.2406-27C>T)
c.2655-27C>T (n.2655-27C>T)
Yg.12777997delCA2579747782USP9Yc.2640-22del (n.2640-22del)
n.2652-22del
c.2406-22del (n.2406-22del)
c.2655-22del (n.2655-22del)
Yg.12777998A>TCA2824885759USP9Yc.2640-21A>T (n.2640-21A>T)
n.2652-21A>T
c.2406-21A>T (n.2406-21A>T)
c.2655-21A>T (n.2655-21A>T)
Yg.12778002A>TCA2824885760USP9Yc.2640-17A>T (n.2640-17A>T)
n.2652-17A>T
c.2406-17A>T (n.2406-17A>T)
c.2655-17A>T (n.2655-17A>T)
Yg.12778003C>ACA2824885761USP9Yc.2640-16C>A (n.2640-16C>A)
n.2652-16C>A
c.2406-16C>A (n.2406-16C>A)
c.2655-16C>A (n.2655-16C>A)
Yg.12778003C>TCA2766241283USP9Yc.2640-16C>T (n.2640-16C>T)
n.2652-16C>T
c.2406-16C>T (n.2406-16C>T)
c.2655-16C>T (n.2655-16C>T)
Yg.12778003_12778007delinsCTTATCA2470557523USP9Yc.2640-16_2640-12delinsCTTAT (n.2640-16_2640-12delinsCTTAT)
n.2652-16_2652-12delinsCTTAT
c.2406-16_2406-12delinsCTTAT (n.2406-16_2406-12delinsCTTAT)
c.2655-16_2655-12delinsCTTAT (n.2655-16_2655-12delinsCTTAT)
Yg.12778005delCA2579747783USP9Yc.2640-14del (n.2640-14del)
n.2652-14del
c.2406-14del (n.2406-14del)
c.2655-14del (n.2655-14del)
Yg.12778010_12778013delCA10573190USP9Yc.2640-9_2640-6del (n.2640-9_2640-6del)
n.2652-9_2652-6del
c.2406-9_2406-6del (n.2406-9_2406-6del)
c.2655-9_2655-6del (n.2655-9_2655-6del)
 dbSNP ExAC gnomAD v2
Yg.12778007T>CCA2579747784USP9Yc.2640-12T>C (n.2640-12T>C)
n.2652-12T>C
c.2406-12T>C (n.2406-12T>C)
c.2655-12T>C (n.2655-12T>C)
Yg.12778010A>GCA2766241284USP9Yc.2640-9A>G (n.2640-9A>G)
n.2652-9A>G
c.2406-9A>G (n.2406-9A>G)
c.2655-9A>G (n.2655-9A>G)
Yg.12778016C>ACA2824885762USP9Yc.2640-3C>A (n.2640-3C>A)
n.2652-3C>A
c.2406-3C>A (n.2406-3C>A)
c.2655-3C>A (n.2655-3C>A)
Yg.12778016C>GCA2824885763USP9Yc.2640-3C>G (n.2640-3C>G)
n.2652-3C>G
c.2406-3C>G (n.2406-3C>G)
c.2655-3C>G (n.2655-3C>G)
Yg.12778017A>CCA415007401USP9Yc.2640-2A>C (n.2640-2A>C)
n.2652-2A>C
c.2406-2A>C (n.2406-2A>C)
c.2655-2A>C (n.2655-2A>C)
Yg.12778017A>GCA415007403USP9Yc.2640-2A>G (n.2640-2A>G)
n.2652-2A>G
c.2406-2A>G (n.2406-2A>G)
c.2655-2A>G (n.2655-2A>G)
Yg.12778017A>TCA415007405USP9Yc.2640-2A>T (n.2640-2A>T)
n.2652-2A>T
c.2406-2A>T (n.2406-2A>T)
c.2655-2A>T (n.2655-2A>T)
Yg.12778018G>ACA415007408USP9Yc.2640-1G>A (n.2640-1G>A)
n.2652-1G>A
c.2406-1G>A (n.2406-1G>A)
c.2655-1G>A (n.2655-1G>A)
Yg.12778018G>CCA415007409USP9Yc.2640-1G>C (n.2640-1G>C)
n.2652-1G>C
c.2406-1G>C (n.2406-1G>C)
c.2655-1G>C (n.2655-1G>C)
Yg.12778018G>TCA415007411USP9Yc.2640-1G>T (n.2640-1G>T)
n.2652-1G>T
c.2406-1G>T (n.2406-1G>T)
c.2655-1G>T (n.2655-1G>T)
Yg.12778019A>CCA415007414USP9Yc.2640A>C (p.Arg880Ser)
n.2652A>C
c.2406A>C (p.Arg802Ser)
c.2655A>C (p.Arg885Ser)
Yg.12778019A>GCA519891264USP9Yc.2640A>G (p.Arg880=)
n.2652A>G
c.2406A>G (p.Arg802=)
c.2655A>G (p.Arg885=)
Yg.12778019A>TCA415007418USP9Yc.2640A>T (p.Arg880Ser)
n.2652A>T
c.2406A>T (p.Arg802Ser)
c.2655A>T (p.Arg885Ser)
Yg.12778020G>ACA415007422USP9Yc.2641G>A (p.Ala881Thr)
n.2653G>A
c.2407G>A (p.Ala803Thr)
c.2656G>A (p.Ala886Thr)
 gnomAD v3 gnomAD v4
Yg.12778020G>CCA415007425USP9Yc.2641G>C (p.Ala881Pro)
n.2653G>C
c.2407G>C (p.Ala803Pro)
c.2656G>C (p.Ala886Pro)
Yg.12778020G>TCA415007428USP9Yc.2641G>T (p.Ala881Ser)
n.2653G>T
c.2407G>T (p.Ala803Ser)
c.2656G>T (p.Ala886Ser)
Yg.12778021C>ACA415007433USP9Yc.2642C>A (p.Ala881Glu)
n.2654C>A
c.2408C>A (p.Ala803Glu)
c.2657C>A (p.Ala886Glu)
Yg.12778021C>GCA415007430USP9Yc.2642C>G (p.Ala881Gly)
n.2654C>G
c.2408C>G (p.Ala803Gly)
c.2657C>G (p.Ala886Gly)
Yg.12778021C>TCA415007431USP9Yc.2642C>T (p.Ala881Val)
n.2654C>T
c.2408C>T (p.Ala803Val)
c.2657C>T (p.Ala886Val)
Yg.12778022A>CCA519891279USP9Yc.2643A>C (p.Ala881=)
n.2655A>C
c.2409A>C (p.Ala803=)
c.2658A>C (p.Ala886=)
Yg.12778022A>GCA519891283USP9Yc.2643A>G (p.Ala881=)
n.2655A>G
c.2409A>G (p.Ala803=)
c.2658A>G (p.Ala886=)
Yg.12778022A>TCA519891286USP9Yc.2643A>T (p.Ala881=)
n.2655A>T
c.2409A>T (p.Ala803=)
c.2658A>T (p.Ala886=)
Yg.12778023T>ACA415007435USP9Yc.2644T>A (p.Phe882Ile)
n.2656T>A
c.2410T>A (p.Phe804Ile)
c.2659T>A (p.Phe887Ile)
Yg.12778023T>CCA415007438USP9Yc.2644T>C (p.Phe882Leu)
n.2656T>C
c.2410T>C (p.Phe804Leu)
c.2659T>C (p.Phe887Leu)
Yg.12778023T>GCA415007441USP9Yc.2644T>G (p.Phe882Val)
n.2656T>G
c.2410T>G (p.Phe804Val)
c.2659T>G (p.Phe887Val)
Yg.12778024T>ACA415007445USP9Yc.2645T>A (p.Phe882Tyr)
n.2657T>A
c.2411T>A (p.Phe804Tyr)
c.2660T>A (p.Phe887Tyr)
Yg.12778024T>CCA415007447USP9Yc.2645T>C (p.Phe882Ser)
n.2657T>C
c.2411T>C (p.Phe804Ser)
c.2660T>C (p.Phe887Ser)
Yg.12778024T>GCA415007450USP9Yc.2645T>G (p.Phe882Cys)
n.2657T>G
c.2411T>G (p.Phe804Cys)
c.2660T>G (p.Phe887Cys)
Yg.12778025T>ACA415007453USP9Yc.2646T>A (p.Phe882Leu)
n.2658T>A
c.2412T>A (p.Phe804Leu)
c.2661T>A (p.Phe887Leu)
Yg.12778025T>CCA519891319USP9Yc.2646T>C (p.Phe882=)
n.2658T>C
c.2412T>C (p.Phe804=)
c.2661T>C (p.Phe887=)
Yg.12778025T>GCA415007455USP9Yc.2646T>G (p.Phe882Leu)
n.2658T>G
c.2412T>G (p.Phe804Leu)
c.2661T>G (p.Phe887Leu)
Yg.12778026C>ACA415007459USP9Yc.2647C>A (p.Arg883Ser)
n.2659C>A
c.2413C>A (p.Arg805Ser)
c.2662C>A (p.Arg888Ser)
Yg.12778026C=CA2470557524USP9Yc.2647C= (p.Arg883=)
n.2659C=
c.2413C= (p.Arg805=)
c.2662C= (p.Arg888=)
Yg.12778026C>GCA415007469USP9Yc.2647C>G (p.Arg883Gly)
n.2659C>G
c.2413C>G (p.Arg805Gly)
c.2662C>G (p.Arg888Gly)
Yg.12778026C>TCA10573191USP9Yc.2647C>T (p.Arg883Cys)
n.2659C>T
c.2413C>T (p.Arg805Cys)
c.2662C>T (p.Arg888Cys)
 dbSNP ExAC gnomAD v2 COSMIC
Yg.12778027G>ACA10573192USP9Yc.2648G>A (p.Arg883His)
n.2660G>A
c.2414G>A (p.Arg805His)
c.2663G>A (p.Arg888His)
 dbSNP ExAC gnomAD v3 gnomAD v4
Yg.12778027G>CCA415007480USP9Yc.2648G>C (p.Arg883Pro)
n.2660G>C
c.2414G>C (p.Arg805Pro)
c.2663G>C (p.Arg888Pro)
Yg.12778027G=CA2470557525USP9Yc.2648G= (p.Arg883=)
n.2660G=
c.2414G= (p.Arg805=)
c.2663G= (p.Arg888=)
Yg.12778027G>TCA415007479USP9Yc.2648G>T (p.Arg883Leu)
n.2660G>T
c.2414G>T (p.Arg805Leu)
c.2663G>T (p.Arg888Leu)
Yg.12778028T>ACA519891370USP9Yc.2649T>A (p.Arg883=)
n.2661T>A
c.2415T>A (p.Arg805=)
c.2664T>A (p.Arg888=)
Yg.12778028T>CCA519891372USP9Yc.2649T>C (p.Arg883=)
n.2661T>C
c.2415T>C (p.Arg805=)
c.2664T>C (p.Arg888=)
Yg.12778028T>GCA519891378USP9Yc.2649T>G (p.Arg883=)
n.2661T>G
c.2415T>G (p.Arg805=)
c.2664T>G (p.Arg888=)
Yg.12778029G>ACA415007481USP9Yc.2650G>A (p.Gly884Ser)
n.2662G>A
c.2416G>A (p.Gly806Ser)
c.2665G>A (p.Gly889Ser)
Yg.12778029G>CCA415007484USP9Yc.2650G>C (p.Gly884Arg)
n.2662G>C
c.2416G>C (p.Gly806Arg)
c.2665G>C (p.Gly889Arg)
Yg.12778029G>TCA415007482USP9Yc.2650G>T (p.Gly884Cys)
n.2662G>T
c.2416G>T (p.Gly806Cys)
c.2665G>T (p.Gly889Cys)
 COSMIC
Yg.12778030G>ACA415007489USP9Yc.2651G>A (p.Gly884Asp)
n.2663G>A
c.2417G>A (p.Gly806Asp)
c.2666G>A (p.Gly889Asp)
Yg.12778030G>CCA415007492USP9Yc.2651G>C (p.Gly884Ala)
n.2663G>C
c.2417G>C (p.Gly806Ala)
c.2666G>C (p.Gly889Ala)
Yg.12778030G>TCA415007494USP9Yc.2651G>T (p.Gly884Val)
n.2663G>T
c.2417G>T (p.Gly806Val)
c.2666G>T (p.Gly889Val)
Yg.12778031C>ACA519891408USP9Yc.2652C>A (p.Gly884=)
n.2664C>A
c.2418C>A (p.Gly806=)
c.2667C>A (p.Gly889=)
Yg.12778031C>GCA519891415USP9Yc.2652C>G (p.Gly884=)
n.2664C>G
c.2418C>G (p.Gly806=)
c.2667C>G (p.Gly889=)
Yg.12778031C>TCA519891417USP9Yc.2652C>T (p.Gly884=)
n.2664C>T
c.2418C>T (p.Gly806=)
c.2667C>T (p.Gly889=)
Yg.12778032A>CCA415007498USP9Yc.2653A>C (p.Lys885Gln)
n.2665A>C
c.2419A>C (p.Lys807Gln)
c.2668A>C (p.Lys890Gln)
Yg.12778032A>GCA415007500USP9Yc.2653A>G (p.Lys885Glu)
n.2665A>G
c.2419A>G (p.Lys807Glu)
c.2668A>G (p.Lys890Glu)
Yg.12778032A>TCA415007504USP9Yc.2653A>T (p.Lys885Ter)
n.2665A>T
c.2419A>T (p.Lys807Ter)
c.2668A>T (p.Lys890Ter)
Yg.12778033A>CCA415007508USP9Yc.2654A>C (p.Lys885Thr)
n.2666A>C
c.2420A>C (p.Lys807Thr)
c.2669A>C (p.Lys890Thr)
Yg.12778033A>GCA415007510USP9Yc.2654A>G (p.Lys885Arg)
n.2666A>G
c.2420A>G (p.Lys807Arg)
c.2669A>G (p.Lys890Arg)
Yg.12778033A>TCA415007512USP9Yc.2654A>T (p.Lys885Ile)
n.2666A>T
c.2420A>T (p.Lys807Ile)
c.2669A>T (p.Lys890Ile)
Yg.12778034A>CCA415007514USP9Yc.2655A>C (p.Lys885Asn)
n.2667A>C
c.2421A>C (p.Lys807Asn)
c.2670A>C (p.Lys890Asn)
Yg.12778034A>GCA519891431USP9Yc.2655A>G (p.Lys885=)
n.2667A>G
c.2421A>G (p.Lys807=)
c.2670A>G (p.Lys890=)
Yg.12778034A>TCA415007516USP9Yc.2655A>T (p.Lys885Asn)
n.2667A>T
c.2421A>T (p.Lys807Asn)
c.2670A>T (p.Lys890Asn)
Yg.12778035C>ACA415007519USP9Yc.2656C>A (p.His886Asn)
n.2668C>A
c.2422C>A (p.His808Asn)
c.2671C>A (p.His891Asn)
Yg.12778035C>GCA415007517USP9Yc.2656C>G (p.His886Asp)
n.2668C>G
c.2422C>G (p.His808Asp)
c.2671C>G (p.His891Asp)
Yg.12778035C>TCA415007518USP9Yc.2656C>T (p.His886Tyr)
n.2668C>T
c.2422C>T (p.His808Tyr)
c.2671C>T (p.His891Tyr)
Yg.12778036A>CCA415007521USP9Yc.2657A>C (p.His886Pro)
n.2669A>C
c.2423A>C (p.His808Pro)
c.2672A>C (p.His891Pro)
Yg.12778036A>GCA415007523USP9Yc.2657A>G (p.His886Arg)
n.2669A>G
c.2423A>G (p.His808Arg)
c.2672A>G (p.His891Arg)
Yg.12778036A>TCA415007532USP9Yc.2657A>T (p.His886Leu)
n.2669A>T
c.2423A>T (p.His808Leu)
c.2672A>T (p.His891Leu)
Yg.12778037C>ACA415007535USP9Yc.2658C>A (p.His886Gln)
n.2670C>A
c.2424C>A (p.His808Gln)
c.2673C>A (p.His891Gln)
Yg.12778037C>GCA415007536USP9Yc.2658C>G (p.His886Gln)
n.2670C>G
c.2424C>G (p.His808Gln)
c.2673C>G (p.His891Gln)
Yg.12778037C>TCA519891460USP9Yc.2658C>T (p.His886=)
n.2670C>T
c.2424C>T (p.His808=)
c.2673C>T (p.His891=)
Yg.12778038C>ACA415007537USP9Yc.2659C>A (p.Leu887Ile)
n.2671C>A
c.2425C>A (p.Leu809Ile)
c.2674C>A (p.Leu892Ile)
Yg.12778038C>GCA415007538USP9Yc.2659C>G (p.Leu887Val)
n.2671C>G
c.2425C>G (p.Leu809Val)
c.2674C>G (p.Leu892Val)
Yg.12778038C>TCA415007539USP9Yc.2659C>T (p.Leu887Phe)
n.2671C>T
c.2425C>T (p.Leu809Phe)
c.2674C>T (p.Leu892Phe)
Yg.12778044_12778045delCA2766241285USP9Yc.2665_2666del (p.Leu889TyrfsTer12)
n.2677_2678del
c.2431_2432del (p.Leu811TyrfsTer12)
c.2680_2681del (p.Leu894TyrfsTer12)
Yg.12778039T>ACA415007540USP9Yc.2660T>A (p.Leu887His)
n.2672T>A
c.2426T>A (p.Leu809His)
c.2675T>A (p.Leu892His)
Yg.12778039T>CCA415007544USP9Yc.2660T>C (p.Leu887Pro)
n.2672T>C
c.2426T>C (p.Leu809Pro)
c.2675T>C (p.Leu892Pro)
Yg.12778039T>GCA415007547USP9Yc.2660T>G (p.Leu887Arg)
n.2672T>G
c.2426T>G (p.Leu809Arg)
c.2675T>G (p.Leu892Arg)
Yg.12778040C>ACA519891475USP9Yc.2661C>A (p.Leu887=)
n.2673C>A
c.2427C>A (p.Leu809=)
c.2676C>A (p.Leu892=)
Yg.12778040C=CA2470557526USP9Yc.2661C= (p.Leu887=)
n.2673C=
c.2427C= (p.Leu809=)
c.2676C= (p.Leu892=)
Yg.12778040C>GCA519891468USP9Yc.2661C>G (p.Leu887=)
n.2673C>G
c.2427C>G (p.Leu809=)
c.2676C>G (p.Leu892=)
Yg.12778040C>TCA10573193USP9Yc.2661C>T (p.Leu887=)
n.2673C>T
c.2427C>T (p.Leu809=)
c.2676C>T (p.Leu892=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12778041T>ACA415007574USP9Yc.2662T>A (p.Ser888Thr)
n.2674T>A
c.2428T>A (p.Ser810Thr)
c.2677T>A (p.Ser893Thr)
Yg.12778041T>CCA415007556USP9Yc.2662T>C (p.Ser888Pro)
n.2674T>C
c.2428T>C (p.Ser810Pro)
c.2677T>C (p.Ser893Pro)
Yg.12778041T>GCA415007558USP9Yc.2662T>G (p.Ser888Ala)
n.2674T>G
c.2428T>G (p.Ser810Ala)
c.2677T>G (p.Ser893Ala)
Yg.12778042C>ACA415007577USP9Yc.2663C>A (p.Ser888Tyr)
n.2675C>A
c.2429C>A (p.Ser810Tyr)
c.2678C>A (p.Ser893Tyr)
Yg.12778042C>GCA415007580USP9Yc.2663C>G (p.Ser888Cys)
n.2675C>G
c.2429C>G (p.Ser810Cys)
c.2678C>G (p.Ser893Cys)
Yg.12778042C>TCA415007583USP9Yc.2663C>T (p.Ser888Phe)
n.2675C>T
c.2429C>T (p.Ser810Phe)
c.2678C>T (p.Ser893Phe)
Yg.12778043T>ACA519891495USP9Yc.2664T>A (p.Ser888=)
n.2676T>A
c.2430T>A (p.Ser810=)
c.2679T>A (p.Ser893=)
Yg.12778043T>CCA519891498USP9Yc.2664T>C (p.Ser888=)
n.2676T>C
c.2430T>C (p.Ser810=)
c.2679T>C (p.Ser893=)
Yg.12778043T>GCA519891511USP9Yc.2664T>G (p.Ser888=)
n.2676T>G
c.2430T>G (p.Ser810=)
c.2679T>G (p.Ser893=)
Yg.12778044C>ACA415007589USP9Yc.2665C>A (p.Leu889Ile)
n.2677C>A
c.2431C>A (p.Leu811Ile)
c.2680C>A (p.Leu894Ile)
Yg.12778044C>GCA415007590USP9Yc.2665C>G (p.Leu889Val)
n.2677C>G
c.2431C>G (p.Leu811Val)
c.2680C>G (p.Leu894Val)
Yg.12778044C>TCA415007592USP9Yc.2665C>T (p.Leu889Phe)
n.2677C>T
c.2431C>T (p.Leu811Phe)
c.2680C>T (p.Leu894Phe)
Yg.12778045T>ACA415007594USP9Yc.2666T>A (p.Leu889His)
n.2678T>A
c.2432T>A (p.Leu811His)
c.2681T>A (p.Leu894His)
Yg.12778045T>CCA415007596USP9Yc.2666T>C (p.Leu889Pro)
n.2678T>C
c.2432T>C (p.Leu811Pro)
c.2681T>C (p.Leu894Pro)
Yg.12778045T>GCA415007600USP9Yc.2666T>G (p.Leu889Arg)
n.2678T>G
c.2432T>G (p.Leu811Arg)
c.2681T>G (p.Leu894Arg)
Yg.12778046T>ACA519891537USP9Yc.2667T>A (p.Leu889=)
n.2679T>A
c.2433T>A (p.Leu811=)
c.2682T>A (p.Leu894=)
Yg.12778046T>CCA519891524USP9Yc.2667T>C (p.Leu889=)
n.2679T>C
c.2433T>C (p.Leu811=)
c.2682T>C (p.Leu894=)
Yg.12778046T>GCA519891527USP9Yc.2667T>G (p.Leu889=)
n.2679T>G
c.2433T>G (p.Leu811=)
c.2682T>G (p.Leu894=)
Yg.12778047A>CCA415007606USP9Yc.2668A>C (p.Ile890Leu)
n.2680A>C
c.2434A>C (p.Ile812Leu)
c.2683A>C (p.Ile895Leu)
Yg.12778047A>GCA415007604USP9Yc.2668A>G (p.Ile890Val)
n.2680A>G
c.2434A>G (p.Ile812Val)
c.2683A>G (p.Ile895Val)
Yg.12778047A>TCA415007603USP9Yc.2668A>T (p.Ile890Leu)
n.2680A>T
c.2434A>T (p.Ile812Leu)
c.2683A>T (p.Ile895Leu)
Yg.12778048T>ACA415007609USP9Yc.2669T>A (p.Ile890Lys)
n.2681T>A
c.2435T>A (p.Ile812Lys)
c.2684T>A (p.Ile895Lys)
Yg.12778048T>CCA415007612USP9Yc.2669T>C (p.Ile890Thr)
n.2681T>C
c.2435T>C (p.Ile812Thr)
c.2684T>C (p.Ile895Thr)
Yg.12778048T>GCA415007614USP9Yc.2669T>G (p.Ile890Arg)
n.2681T>G
c.2435T>G (p.Ile812Arg)
c.2684T>G (p.Ile895Arg)
Yg.12778049A>CCA519891550USP9Yc.2670A>C (p.Ile890=)
n.2682A>C
c.2436A>C (p.Ile812=)
c.2685A>C (p.Ile895=)
Yg.12778049A>GCA415007618USP9Yc.2670A>G (p.Ile890Met)
n.2682A>G
c.2436A>G (p.Ile812Met)
c.2685A>G (p.Ile895Met)
Yg.12778049A>TCA519891553USP9Yc.2670A>T (p.Ile890=)
n.2682A>T
c.2436A>T (p.Ile812=)
c.2685A>T (p.Ile895=)
Yg.12778050G>ACA415007620USP9Yc.2671G>A (p.Val891Ile)
n.2683G>A
c.2437G>A (p.Val813Ile)
c.2686G>A (p.Val896Ile)
Yg.12778050G>CCA10573194USP9Yc.2671G>C (p.Val891Leu)
n.2683G>C
c.2437G>C (p.Val813Leu)
c.2686G>C (p.Val896Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12778050G=CA2470557527USP9Yc.2671G= (p.Val891=)
n.2683G=
c.2437G= (p.Val813=)
c.2686G= (p.Val896=)
Yg.12778050G>TCA415007623USP9Yc.2671G>T (p.Val891Phe)
n.2683G>T
c.2437G>T (p.Val813Phe)
c.2686G>T (p.Val896Phe)
Yg.12778051T>ACA415007624USP9Yc.2672T>A (p.Val891Asp)
n.2684T>A
c.2438T>A (p.Val813Asp)
c.2687T>A (p.Val896Asp)
Yg.12778051T>CCA415007625USP9Yc.2672T>C (p.Val891Ala)
n.2684T>C
c.2438T>C (p.Val813Ala)
c.2687T>C (p.Val896Ala)
Yg.12778051T>GCA415007626USP9Yc.2672T>G (p.Val891Gly)
n.2684T>G
c.2438T>G (p.Val813Gly)
c.2687T>G (p.Val896Gly)
Yg.12778052T>ACA519891564USP9Yc.2673T>A (p.Val891=)
n.2685T>A
c.2439T>A (p.Val813=)
c.2688T>A (p.Val896=)
Yg.12778052T>CCA519891566USP9Yc.2673T>C (p.Val891=)
n.2685T>C
c.2439T>C (p.Val813=)
c.2688T>C (p.Val896=)
Yg.12778052T>GCA519891569USP9Yc.2673T>G (p.Val891=)
n.2685T>G
c.2439T>G (p.Val813=)
c.2688T>G (p.Val896=)
Yg.12778053C>ACA519891571USP9Yc.2674C>A (p.Arg892=)
n.2686C>A
c.2440C>A (p.Arg814=)
c.2689C>A (p.Arg897=)
Yg.12778053C=CA2470557528USP9Yc.2674C= (p.Arg892=)
n.2686C=
c.2440C= (p.Arg814=)
c.2689C= (p.Arg897=)
Yg.12778053C>GCA415007628USP9Yc.2674C>G (p.Arg892Gly)
n.2686C>G
c.2440C>G (p.Arg814Gly)
c.2689C>G (p.Arg897Gly)
Yg.12778053C>TCA10573195USP9Yc.2674C>T (p.Arg892Trp)
n.2686C>T
c.2440C>T (p.Arg814Trp)
c.2689C>T (p.Arg897Trp)
 dbSNP ExAC gnomAD v2 COSMIC

Number of alleles fetched