Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214932639_214932641delinsACT | CA1327141123 | ABCA12,SNHG31 | c.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 | |
2 | g.214932641_214932642del | CA16617465 | ABCA12,SNHG31 | c.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 |
2 | g.214932641T>A | CA350792297 | ABCA12,SNHG31 | c.7781A>T (p.Glu2594Val) c.6827A>T (p.Glu2276Val) n.8081A>T n.322-15184T>A c.7790A>T (p.Glu2597Val) n.8279A>T | |
2 | g.214932641T>C | CA350792299 | ABCA12,SNHG31 | c.7781A>G (p.Glu2594Gly) c.6827A>G (p.Glu2276Gly) n.8081A>G n.322-15184T>C c.7790A>G (p.Glu2597Gly) n.8279A>G | |
2 | g.214932641T>G | CA350792298 | ABCA12,SNHG31 | c.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 |
2 | g.214932641T= | CA1327141131 | ABCA12,SNHG31 | c.7781A= (p.Glu2594=) c.6827A= (p.Glu2276=) n.8081A= n.322-15184T= c.7790A= (p.Glu2597=) n.8279A= | |
2 | g.214932642C>A | CA350792300 | ABCA12,SNHG31 | c.7780G>T (p.Glu2594Ter) c.6826G>T (p.Glu2276Ter) n.8080G>T n.322-15183C>A c.7789G>T (p.Glu2597Ter) n.8278G>T | |
2 | g.214932642C= | CA1327141134 | ABCA12,SNHG31 | c.7780G= (p.Glu2594=) c.6826G= (p.Glu2276=) n.8080G= n.322-15183C= c.7789G= (p.Glu2597=) n.8278G= | |
2 | g.214932642C>G | CA350792302 | ABCA12,SNHG31 | c.7780G>C (p.Glu2594Gln) c.6826G>C (p.Glu2276Gln) n.8080G>C n.322-15183C>G c.7789G>C (p.Glu2597Gln) n.8278G>C | |
2 | g.214932642C>T | CA350792301 | ABCA12,SNHG31 | c.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 |
2 | g.214932643C>A | CA350792304 | ABCA12,SNHG31 | c.7779G>T (p.Met2593Ile) c.6825G>T (p.Met2275Ile) n.8079G>T n.322-15182C>A c.7788G>T (p.Met2596Ile) n.8277G>T | |
2 | g.214932643C>G | CA350792305 | ABCA12,SNHG31 | c.7779G>C (p.Met2593Ile) c.6825G>C (p.Met2275Ile) n.8079G>C n.322-15182C>G c.7788G>C (p.Met2596Ile) n.8277G>C | |
2 | g.214932643C>T | CA350792306 | ABCA12,SNHG31 | c.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 |
2 | g.214932644A= | CA1327141137 | ABCA12,SNHG31 | c.7778T= (p.Met2593=) c.6824T= (p.Met2275=) n.8078T= n.322-15181A= c.7787T= (p.Met2596=) n.8276T= | |
2 | g.214932644A>C | CA2090554 | ABCA12,SNHG31 | c.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 |
2 | g.214932644A>G | CA350792307 | ABCA12,SNHG31 | c.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 |
2 | g.214932644A>T | CA350792308 | ABCA12,SNHG31 | c.7778T>A (p.Met2593Lys) c.6824T>A (p.Met2275Lys) n.8078T>A n.322-15181A>T c.7787T>A (p.Met2596Lys) n.8276T>A | |
2 | g.214932645T>A | CA350792309 | ABCA12,SNHG31 | c.7777A>T (p.Met2593Leu) c.6823A>T (p.Met2275Leu) n.8077A>T n.322-15180T>A c.7786A>T (p.Met2596Leu) n.8275A>T | |
2 | g.214932645T>C | CA350792310 | ABCA12,SNHG31 | c.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 |
2 | g.214932645T>G | CA350792311 | ABCA12,SNHG31 | c.7777A>C (p.Met2593Leu) c.6823A>C (p.Met2275Leu) n.8077A>C n.322-15180T>G c.7786A>C (p.Met2596Leu) n.8275A>C | |
2 | g.214932645T= | CA1327141138 | ABCA12,SNHG31 | c.7777A= (p.Met2593=) c.6823A= (p.Met2275=) n.8077A= n.322-15180T= c.7786A= (p.Met2596=) n.8275A= | |
2 | g.214932646C>A | CA350792312 | ABCA12,SNHG31 | c.7776G>T (p.Gln2592His) c.6822G>T (p.Gln2274His) n.8076G>T n.322-15179C>A c.7785G>T (p.Gln2595His) n.8274G>T | |
2 | g.214932646C= | CA1327141139 | ABCA12,SNHG31 | c.7776G= (p.Gln2592=) c.6822G= (p.Gln2274=) n.8076G= n.322-15179C= c.7785G= (p.Gln2595=) n.8274G= | |
2 | g.214932646C>G | CA350792313 | ABCA12,SNHG31 | c.7776G>C (p.Gln2592His) c.6822G>C (p.Gln2274His) n.8076G>C n.322-15179C>G c.7785G>C (p.Gln2595His) n.8274G>C | |
2 | g.214932646C>T | CA65501423 | ABCA12,SNHG31 | c.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 |
2 | g.214932647T>A | CA350792314 | ABCA12,SNHG31 | c.7775A>T (p.Gln2592Leu) c.6821A>T (p.Gln2274Leu) n.8075A>T n.322-15178T>A c.7784A>T (p.Gln2595Leu) n.8273A>T | |
2 | g.214932647T>C | CA350792316 | ABCA12,SNHG31 | c.7775A>G (p.Gln2592Arg) c.6821A>G (p.Gln2274Arg) n.8075A>G n.322-15178T>C c.7784A>G (p.Gln2595Arg) n.8273A>G | |
2 | g.214932647T>G | CA350792315 | ABCA12,SNHG31 | c.7775A>C (p.Gln2592Pro) c.6821A>C (p.Gln2274Pro) n.8075A>C n.322-15178T>G c.7784A>C (p.Gln2595Pro) n.8273A>C | |
2 | g.214932648G>A | CA350792317 | ABCA12,SNHG31 | c.7774C>T (p.Gln2592Ter) c.6820C>T (p.Gln2274Ter) n.8074C>T n.322-15177G>A c.7783C>T (p.Gln2595Ter) n.8272C>T | |
2 | g.214932648G>C | CA350792318 | ABCA12,SNHG31 | c.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 |
2 | g.214932648G>T | CA350792319 | ABCA12,SNHG31 | c.7774C>A (p.Gln2592Lys) c.6820C>A (p.Gln2274Lys) n.8074C>A n.322-15177G>T c.7783C>A (p.Gln2595Lys) n.8272C>A | |
2 | g.214932649G>A | CA431319028 | ABCA12,SNHG31 | c.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 |
2 | g.214932649G>C | CA350792320 | ABCA12,SNHG31 | c.7773C>G (p.Asp2591Glu) c.6819C>G (p.Asp2273Glu) n.8073C>G n.322-15176G>C c.7782C>G (p.Asp2594Glu) n.8271C>G | |
2 | g.214932649G= | CA1327141143 | ABCA12,SNHG31 | c.7773C= (p.Asp2591=) c.6819C= (p.Asp2273=) n.8073C= n.322-15176G= c.7782C= (p.Asp2594=) n.8271C= | |
2 | g.214932649G>T | CA350792321 | ABCA12,SNHG31 | c.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 |
2 | g.214932650T>A | CA350792322 | ABCA12,SNHG31 | c.7772A>T (p.Asp2591Val) c.6818A>T (p.Asp2273Val) n.8072A>T n.322-15175T>A c.7781A>T (p.Asp2594Val) n.8270A>T | |
2 | g.214932650T>C | CA350792323 | ABCA12,SNHG31 | c.7772A>G (p.Asp2591Gly) c.6818A>G (p.Asp2273Gly) n.8072A>G n.322-15175T>C c.7781A>G (p.Asp2594Gly) n.8270A>G | |
2 | g.214932650T>G | CA350792324 | ABCA12,SNHG31 | c.7772A>C (p.Asp2591Ala) c.6818A>C (p.Asp2273Ala) n.8072A>C n.322-15175T>G c.7781A>C (p.Asp2594Ala) n.8270A>C | |
2 | g.214932652_214932654dup | CA2090555 | ABCA12,SNHG31 | c.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 |
2 | g.214932651C>A | CA350792327 | ABCA12,SNHG31 | c.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 |
2 | g.214932651C>G | CA350792326 | ABCA12,SNHG31 | c.7771G>C (p.Asp2591His) c.6817G>C (p.Asp2273His) n.8071G>C n.322-15174C>G c.7780G>C (p.Asp2594His) n.8269G>C | |
2 | g.214932651C>T | CA350792325 | ABCA12,SNHG31 | c.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 |
2 | g.214932652A>C | CA350792328 | ABCA12,SNHG31 | c.7770T>G (p.Asp2590Glu) c.6816T>G (p.Asp2272Glu) n.8070T>G n.322-15173A>C c.7779T>G (p.Asp2593Glu) n.8268T>G | |
2 | g.214932652A>G | CA431319029 | ABCA12,SNHG31 | c.7770T>C (p.Asp2590=) c.6816T>C (p.Asp2272=) n.8070T>C n.322-15173A>G c.7779T>C (p.Asp2593=) n.8268T>C | |
2 | g.214932652A>T | CA350792329 | ABCA12,SNHG31 | c.7770T>A (p.Asp2590Glu) c.6816T>A (p.Asp2272Glu) n.8070T>A n.322-15173A>T c.7779T>A (p.Asp2593Glu) n.8268T>A | |
2 | g.214932653T>A | CA350792330 | ABCA12,SNHG31 | c.7769A>T (p.Asp2590Val) c.6815A>T (p.Asp2272Val) n.8069A>T n.322-15172T>A c.7778A>T (p.Asp2593Val) n.8267A>T | |
2 | g.214932653T>C | CA350792331 | ABCA12,SNHG31 | c.7769A>G (p.Asp2590Gly) c.6815A>G (p.Asp2272Gly) n.8069A>G n.322-15172T>C c.7778A>G (p.Asp2593Gly) n.8267A>G | |
2 | g.214932653T>G | CA350792332 | ABCA12,SNHG31 | c.7769A>C (p.Asp2590Ala) c.6815A>C (p.Asp2272Ala) n.8069A>C n.322-15172T>G c.7778A>C (p.Asp2593Ala) n.8267A>C | |
2 | g.214932654C>A | CA350792333 | ABCA12,SNHG31 | c.7768G>T (p.Asp2590Tyr) c.6814G>T (p.Asp2272Tyr) n.8068G>T n.322-15171C>A c.7777G>T (p.Asp2593Tyr) n.8266G>T | |
2 | g.214932654C>G | CA350792334 | ABCA12,SNHG31 | c.7768G>C (p.Asp2590His) c.6814G>C (p.Asp2272His) n.8068G>C n.322-15171C>G c.7777G>C (p.Asp2593His) n.8266G>C |