Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214932639_214932641delinsACTCA1327141123ABCA12,SNHG31c.7781_7783delinsAGT (p.Glu2594=)
c.6827_6829delinsAGT (p.Glu2276=)
n.8081_8083delinsAGT
n.322-15186_322-15184delinsACT
c.7790_7792delinsAGT (p.Glu2597=)
n.8279_8281delinsAGT
2g.214932641_214932642delCA16617465ABCA12,SNHG31c.7781_7782del (p.Glu2594ValfsTer?)
c.6827_6828del (p.Glu2276ValfsTer?)
n.8081_8082del
n.322-15184_322-15183del
c.7790_7791del (p.Glu2597ValfsTer?)
n.8279_8280del
ClinVar dbSNP
2g.214932641T>ACA350792297ABCA12,SNHG31c.7781A>T (p.Glu2594Val)
c.6827A>T (p.Glu2276Val)
n.8081A>T
n.322-15184T>A
c.7790A>T (p.Glu2597Val)
n.8279A>T
2g.214932641T>CCA350792299ABCA12,SNHG31c.7781A>G (p.Glu2594Gly)
c.6827A>G (p.Glu2276Gly)
n.8081A>G
n.322-15184T>C
c.7790A>G (p.Glu2597Gly)
n.8279A>G
2g.214932641T>GCA350792298ABCA12,SNHG31c.7781A>C (p.Glu2594Ala)
c.6827A>C (p.Glu2276Ala)
n.8081A>C
n.322-15184T>G
c.7790A>C (p.Glu2597Ala)
n.8279A>C
dbSNP
2g.214932641T=CA1327141131ABCA12,SNHG31c.7781A= (p.Glu2594=)
c.6827A= (p.Glu2276=)
n.8081A=
n.322-15184T=
c.7790A= (p.Glu2597=)
n.8279A=
2g.214932642C>ACA350792300ABCA12,SNHG31c.7780G>T (p.Glu2594Ter)
c.6826G>T (p.Glu2276Ter)
n.8080G>T
n.322-15183C>A
c.7789G>T (p.Glu2597Ter)
n.8278G>T
2g.214932642C=CA1327141134ABCA12,SNHG31c.7780G= (p.Glu2594=)
c.6826G= (p.Glu2276=)
n.8080G=
n.322-15183C=
c.7789G= (p.Glu2597=)
n.8278G=
2g.214932642C>GCA350792302ABCA12,SNHG31c.7780G>C (p.Glu2594Gln)
c.6826G>C (p.Glu2276Gln)
n.8080G>C
n.322-15183C>G
c.7789G>C (p.Glu2597Gln)
n.8278G>C
2g.214932642C>TCA350792301ABCA12,SNHG31c.7780G>A (p.Glu2594Lys)
c.6826G>A (p.Glu2276Lys)
n.8080G>A
n.322-15183C>T
c.7789G>A (p.Glu2597Lys)
n.8278G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214932643C>ACA350792304ABCA12,SNHG31c.7779G>T (p.Met2593Ile)
c.6825G>T (p.Met2275Ile)
n.8079G>T
n.322-15182C>A
c.7788G>T (p.Met2596Ile)
n.8277G>T
2g.214932643C>GCA350792305ABCA12,SNHG31c.7779G>C (p.Met2593Ile)
c.6825G>C (p.Met2275Ile)
n.8079G>C
n.322-15182C>G
c.7788G>C (p.Met2596Ile)
n.8277G>C
2g.214932643C>TCA350792306ABCA12,SNHG31c.7779G>A (p.Met2593Ile)
c.6825G>A (p.Met2275Ile)
n.8079G>A
n.322-15182C>T
c.7788G>A (p.Met2596Ile)
n.8277G>A
gnomAD v4
2g.214932644A=CA1327141137ABCA12,SNHG31c.7778T= (p.Met2593=)
c.6824T= (p.Met2275=)
n.8078T=
n.322-15181A=
c.7787T= (p.Met2596=)
n.8276T=
2g.214932644A>CCA2090554ABCA12,SNHG31c.7778T>G (p.Met2593Arg)
c.6824T>G (p.Met2275Arg)
n.8078T>G
n.322-15181A>C
c.7787T>G (p.Met2596Arg)
n.8276T>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932644A>GCA350792307ABCA12,SNHG31c.7778T>C (p.Met2593Thr)
c.6824T>C (p.Met2275Thr)
n.8078T>C
n.322-15181A>G
c.7787T>C (p.Met2596Thr)
n.8276T>C
dbSNP gnomAD v2
2g.214932644A>TCA350792308ABCA12,SNHG31c.7778T>A (p.Met2593Lys)
c.6824T>A (p.Met2275Lys)
n.8078T>A
n.322-15181A>T
c.7787T>A (p.Met2596Lys)
n.8276T>A
2g.214932645T>ACA350792309ABCA12,SNHG31c.7777A>T (p.Met2593Leu)
c.6823A>T (p.Met2275Leu)
n.8077A>T
n.322-15180T>A
c.7786A>T (p.Met2596Leu)
n.8275A>T
2g.214932645T>CCA350792310ABCA12,SNHG31c.7777A>G (p.Met2593Val)
c.6823A>G (p.Met2275Val)
n.8077A>G
n.322-15180T>C
c.7786A>G (p.Met2596Val)
n.8275A>G
dbSNP gnomAD v4
2g.214932645T>GCA350792311ABCA12,SNHG31c.7777A>C (p.Met2593Leu)
c.6823A>C (p.Met2275Leu)
n.8077A>C
n.322-15180T>G
c.7786A>C (p.Met2596Leu)
n.8275A>C
2g.214932645T=CA1327141138ABCA12,SNHG31c.7777A= (p.Met2593=)
c.6823A= (p.Met2275=)
n.8077A=
n.322-15180T=
c.7786A= (p.Met2596=)
n.8275A=
2g.214932646C>ACA350792312ABCA12,SNHG31c.7776G>T (p.Gln2592His)
c.6822G>T (p.Gln2274His)
n.8076G>T
n.322-15179C>A
c.7785G>T (p.Gln2595His)
n.8274G>T
2g.214932646C=CA1327141139ABCA12,SNHG31c.7776G= (p.Gln2592=)
c.6822G= (p.Gln2274=)
n.8076G=
n.322-15179C=
c.7785G= (p.Gln2595=)
n.8274G=
2g.214932646C>GCA350792313ABCA12,SNHG31c.7776G>C (p.Gln2592His)
c.6822G>C (p.Gln2274His)
n.8076G>C
n.322-15179C>G
c.7785G>C (p.Gln2595His)
n.8274G>C
2g.214932646C>TCA65501423ABCA12,SNHG31c.7776G>A (p.Gln2592=)
c.6822G>A (p.Gln2274=)
n.8076G>A
n.322-15179C>T
c.7785G>A (p.Gln2595=)
n.8274G>A
dbSNP
2g.214932647T>ACA350792314ABCA12,SNHG31c.7775A>T (p.Gln2592Leu)
c.6821A>T (p.Gln2274Leu)
n.8075A>T
n.322-15178T>A
c.7784A>T (p.Gln2595Leu)
n.8273A>T
2g.214932647T>CCA350792316ABCA12,SNHG31c.7775A>G (p.Gln2592Arg)
c.6821A>G (p.Gln2274Arg)
n.8075A>G
n.322-15178T>C
c.7784A>G (p.Gln2595Arg)
n.8273A>G
2g.214932647T>GCA350792315ABCA12,SNHG31c.7775A>C (p.Gln2592Pro)
c.6821A>C (p.Gln2274Pro)
n.8075A>C
n.322-15178T>G
c.7784A>C (p.Gln2595Pro)
n.8273A>C
2g.214932648G>ACA350792317ABCA12,SNHG31c.7774C>T (p.Gln2592Ter)
c.6820C>T (p.Gln2274Ter)
n.8074C>T
n.322-15177G>A
c.7783C>T (p.Gln2595Ter)
n.8272C>T
2g.214932648G>CCA350792318ABCA12,SNHG31c.7774C>G (p.Gln2592Glu)
c.6820C>G (p.Gln2274Glu)
n.8074C>G
n.322-15177G>C
c.7783C>G (p.Gln2595Glu)
n.8272C>G
gnomAD v4
2g.214932648G>TCA350792319ABCA12,SNHG31c.7774C>A (p.Gln2592Lys)
c.6820C>A (p.Gln2274Lys)
n.8074C>A
n.322-15177G>T
c.7783C>A (p.Gln2595Lys)
n.8272C>A
2g.214932649G>ACA431319028ABCA12,SNHG31c.7773C>T (p.Asp2591=)
c.6819C>T (p.Asp2273=)
n.8073C>T
n.322-15176G>A
c.7782C>T (p.Asp2594=)
n.8271C>T
dbSNP gnomAD v3 gnomAD v4
2g.214932649G>CCA350792320ABCA12,SNHG31c.7773C>G (p.Asp2591Glu)
c.6819C>G (p.Asp2273Glu)
n.8073C>G
n.322-15176G>C
c.7782C>G (p.Asp2594Glu)
n.8271C>G
2g.214932649G=CA1327141143ABCA12,SNHG31c.7773C= (p.Asp2591=)
c.6819C= (p.Asp2273=)
n.8073C=
n.322-15176G=
c.7782C= (p.Asp2594=)
n.8271C=
2g.214932649G>TCA350792321ABCA12,SNHG31c.7773C>A (p.Asp2591Glu)
c.6819C>A (p.Asp2273Glu)
n.8073C>A
n.322-15176G>T
c.7782C>A (p.Asp2594Glu)
n.8271C>A
dbSNP
2g.214932650T>ACA350792322ABCA12,SNHG31c.7772A>T (p.Asp2591Val)
c.6818A>T (p.Asp2273Val)
n.8072A>T
n.322-15175T>A
c.7781A>T (p.Asp2594Val)
n.8270A>T
2g.214932650T>CCA350792323ABCA12,SNHG31c.7772A>G (p.Asp2591Gly)
c.6818A>G (p.Asp2273Gly)
n.8072A>G
n.322-15175T>C
c.7781A>G (p.Asp2594Gly)
n.8270A>G
2g.214932650T>GCA350792324ABCA12,SNHG31c.7772A>C (p.Asp2591Ala)
c.6818A>C (p.Asp2273Ala)
n.8072A>C
n.322-15175T>G
c.7781A>C (p.Asp2594Ala)
n.8270A>C
2g.214932652_214932654dupCA2090555ABCA12,SNHG31c.7770_7772dup (p.Asp2591_Gln2592insAsp)
c.6816_6818dup (p.Asp2273_Gln2274insAsp)
n.8070_8072dup
n.322-15173_322-15171dup
c.7779_7781dup (p.Asp2594_Gln2595insAsp)
n.8268_8270dup
dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932651C>ACA350792327ABCA12,SNHG31c.7771G>T (p.Asp2591Tyr)
c.6817G>T (p.Asp2273Tyr)
n.8071G>T
n.322-15174C>A
c.7780G>T (p.Asp2594Tyr)
n.8269G>T
gnomAD v4
2g.214932651C>GCA350792326ABCA12,SNHG31c.7771G>C (p.Asp2591His)
c.6817G>C (p.Asp2273His)
n.8071G>C
n.322-15174C>G
c.7780G>C (p.Asp2594His)
n.8269G>C
2g.214932651C>TCA350792325ABCA12,SNHG31c.7771G>A (p.Asp2591Asn)
c.6817G>A (p.Asp2273Asn)
n.8071G>A
n.322-15174C>T
c.7780G>A (p.Asp2594Asn)
n.8269G>A
gnomAD v4
2g.214932652A>CCA350792328ABCA12,SNHG31c.7770T>G (p.Asp2590Glu)
c.6816T>G (p.Asp2272Glu)
n.8070T>G
n.322-15173A>C
c.7779T>G (p.Asp2593Glu)
n.8268T>G
2g.214932652A>GCA431319029ABCA12,SNHG31c.7770T>C (p.Asp2590=)
c.6816T>C (p.Asp2272=)
n.8070T>C
n.322-15173A>G
c.7779T>C (p.Asp2593=)
n.8268T>C
2g.214932652A>TCA350792329ABCA12,SNHG31c.7770T>A (p.Asp2590Glu)
c.6816T>A (p.Asp2272Glu)
n.8070T>A
n.322-15173A>T
c.7779T>A (p.Asp2593Glu)
n.8268T>A
2g.214932653T>ACA350792330ABCA12,SNHG31c.7769A>T (p.Asp2590Val)
c.6815A>T (p.Asp2272Val)
n.8069A>T
n.322-15172T>A
c.7778A>T (p.Asp2593Val)
n.8267A>T
2g.214932653T>CCA350792331ABCA12,SNHG31c.7769A>G (p.Asp2590Gly)
c.6815A>G (p.Asp2272Gly)
n.8069A>G
n.322-15172T>C
c.7778A>G (p.Asp2593Gly)
n.8267A>G
2g.214932653T>GCA350792332ABCA12,SNHG31c.7769A>C (p.Asp2590Ala)
c.6815A>C (p.Asp2272Ala)
n.8069A>C
n.322-15172T>G
c.7778A>C (p.Asp2593Ala)
n.8267A>C
2g.214932654C>ACA350792333ABCA12,SNHG31c.7768G>T (p.Asp2590Tyr)
c.6814G>T (p.Asp2272Tyr)
n.8068G>T
n.322-15171C>A
c.7777G>T (p.Asp2593Tyr)
n.8266G>T
2g.214932654C>GCA350792334ABCA12,SNHG31c.7768G>C (p.Asp2590His)
c.6814G>C (p.Asp2272His)
n.8068G>C
n.322-15171C>G
c.7777G>C (p.Asp2593His)
n.8266G>C

Number of alleles fetched