Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.25340112_25340122delinsATAATCATCTTCA2165187371SNHG14,UBE3Ac.2401_2411delinsAAGATGATTAT (p.Lys801=)
c.-3_8delinsAAGATGATTAT
c.2461_2471delinsAAGATGATTAT (p.Lys821=)
c.2470_2480delinsAAGATGATTAT (p.Lys824=)
c.2284_2294delinsAAGATGATTAT (p.Lys762=)
n.5157_5167delinsAAGATGATTAT
c.412_422delinsAAGATGATTAT (p.Lys138=)
c.272_282delinsAAGATGATTAT
c.2305_2315delinsAAGATGATTAT (p.Lys769=)
c.2245_2255delinsAAGATGATTAT (p.Lys749=)
c.2236_2246delinsAAGATGATTAT (p.Lys746=)
c.1210_1220delinsAAGATGATTAT (p.Lys404=)
c.1150_1160delinsAAGATGATTAT (p.Lys384=)
n.18393-51484_18393-51474delinsATAATCATCTT
n.3005_3015delinsAAGATGATTAT
c.2314_2324delinsAAGATGATTAT (p.Lys772=)
n.2973_2983delinsAAGATGATTAT
15g.25340117_25340126delCA891844412SNHG14,UBE3Ac.2401_2410del (p.Lys801Ter)
c.-3_7del
c.2461_2470del (p.Lys821Ter)
c.2470_2479del (p.Lys824Ter)
c.2284_2293del (p.Lys762Ter)
n.5157_5166del
c.412_421del (p.Lys138Ter)
c.272_281del
c.2305_2314del (p.Lys769Ter)
c.2245_2254del (p.Lys749Ter)
c.2236_2245del (p.Lys746Ter)
c.1210_1219del (p.Lys404Ter)
c.1150_1159del (p.Lys384Ter)
n.18393-51479_18393-51470del
n.3005_3014del
c.2314_2323del (p.Lys772Ter)
n.2973_2982del
 ClinVar dbSNP
15g.25340118_25340120delCA333381SNHG14,UBE3Ac.2406_2408del (p.Met802del)
c.3_5del (p.Met1del)
c.2466_2468del (p.Met822del)
c.2475_2477del (p.Met825del)
c.2289_2291del (p.Met763del)
n.5162_5164del
c.417_419del (p.Met139del)
c.277_279del
c.2310_2312del (p.Met770del)
c.2250_2252del (p.Met750del)
c.2241_2243del (p.Met747del)
c.1215_1217del (p.Met405del)
c.1155_1157del (p.Met385del)
n.18393-51478_18393-51476del
n.3010_3012del
c.2319_2321del (p.Met773del)
n.2978_2980del
 ClinVar dbSNP
15g.25340119T>ACA391351010SNHG14,UBE3Ac.2404A>T (p.Met802Leu)
c.1A>T (p.Met1Leu)
c.2464A>T (p.Met822Leu)
c.2473A>T (p.Met825Leu)
c.2287A>T (p.Met763Leu)
n.5160A>T
c.415A>T (p.Met139Leu)
c.275A>T
c.2308A>T (p.Met770Leu)
c.2248A>T (p.Met750Leu)
c.2239A>T (p.Met747Leu)
c.1213A>T (p.Met405Leu)
c.1153A>T (p.Met385Leu)
n.18393-51477T>A
n.3008A>T
c.2317A>T (p.Met773Leu)
n.2976A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.25340119T>CCA391351011SNHG14,UBE3Ac.2404A>G (p.Met802Val)
c.1A>G (p.Met1Val)
c.2464A>G (p.Met822Val)
c.2473A>G (p.Met825Val)
c.2287A>G (p.Met763Val)
n.5160A>G
c.415A>G (p.Met139Val)
c.275A>G
c.2308A>G (p.Met770Val)
c.2248A>G (p.Met750Val)
c.2239A>G (p.Met747Val)
c.1213A>G (p.Met405Val)
c.1153A>G (p.Met385Val)
n.18393-51477T>C
n.3008A>G
c.2317A>G (p.Met773Val)
n.2976A>G
15g.25340119T>GCA391351013SNHG14,UBE3Ac.2404A>C (p.Met802Leu)
c.1A>C (p.Met1Leu)
c.2464A>C (p.Met822Leu)
c.2473A>C (p.Met825Leu)
c.2287A>C (p.Met763Leu)
n.5160A>C
c.415A>C (p.Met139Leu)
c.275A>C
c.2308A>C (p.Met770Leu)
c.2248A>C (p.Met750Leu)
c.2239A>C (p.Met747Leu)
c.1213A>C (p.Met405Leu)
c.1153A>C (p.Met385Leu)
n.18393-51477T>G
n.3008A>C
c.2317A>C (p.Met773Leu)
n.2976A>C
15g.25340119T=CA2165187398SNHG14,UBE3Ac.2404A= (p.Met802=)
c.1A= (p.Met1=)
c.2464A= (p.Met822=)
c.2473A= (p.Met825=)
c.2287A= (p.Met763=)
n.5160A=
c.415A= (p.Met139=)
c.275A=
c.2308A= (p.Met770=)
c.2248A= (p.Met750=)
c.2239A= (p.Met747=)
c.1213A= (p.Met405=)
c.1153A= (p.Met385=)
n.18393-51477T=
n.3008A=
c.2317A= (p.Met773=)
n.2976A=
15g.25340120C>ACA391351015SNHG14,UBE3Ac.2403G>T (p.Lys801Asn)
c.-1G>T (n.-1G>T)
c.2463G>T (p.Lys821Asn)
c.2472G>T (p.Lys824Asn)
c.2286G>T (p.Lys762Asn)
n.5159G>T
c.414G>T (p.Lys138Asn)
c.274G>T
c.2307G>T (p.Lys769Asn)
c.2247G>T (p.Lys749Asn)
c.2238G>T (p.Lys746Asn)
c.1212G>T (p.Lys404Asn)
c.1152G>T (p.Lys384Asn)
n.18393-51476C>A
n.3007G>T
c.2316G>T (p.Lys772Asn)
n.2975G>T
15g.25340120C>GCA391351016SNHG14,UBE3Ac.2403G>C (p.Lys801Asn)
c.-1G>C (n.-1G>C)
c.2463G>C (p.Lys821Asn)
c.2472G>C (p.Lys824Asn)
c.2286G>C (p.Lys762Asn)
n.5159G>C
c.414G>C (p.Lys138Asn)
c.274G>C
c.2307G>C (p.Lys769Asn)
c.2247G>C (p.Lys749Asn)
c.2238G>C (p.Lys746Asn)
c.1212G>C (p.Lys404Asn)
c.1152G>C (p.Lys384Asn)
n.18393-51476C>G
n.3007G>C
c.2316G>C (p.Lys772Asn)
n.2975G>C
15g.25340120C>TCA488873955SNHG14,UBE3Ac.2403G>A (p.Lys801=)
c.-1G>A (n.-1G>A)
c.2463G>A (p.Lys821=)
c.2472G>A (p.Lys824=)
c.2286G>A (p.Lys762=)
n.5159G>A
c.414G>A (p.Lys138=)
c.274G>A
c.2307G>A (p.Lys769=)
c.2247G>A (p.Lys749=)
c.2238G>A (p.Lys746=)
c.1212G>A (p.Lys404=)
c.1152G>A (p.Lys384=)
n.18393-51476C>T
n.3007G>A
c.2316G>A (p.Lys772=)
n.2975G>A
15g.25340121T>ACA391351019SNHG14,UBE3Ac.2402A>T (p.Lys801Met)
c.-2A>T (n.-2A>T)
c.2462A>T (p.Lys821Met)
c.2471A>T (p.Lys824Met)
c.2285A>T (p.Lys762Met)
n.5158A>T
c.413A>T (p.Lys138Met)
c.273A>T
c.2306A>T (p.Lys769Met)
c.2246A>T (p.Lys749Met)
c.2237A>T (p.Lys746Met)
c.1211A>T (p.Lys404Met)
c.1151A>T (p.Lys384Met)
n.18393-51475T>A
n.3006A>T
c.2315A>T (p.Lys772Met)
n.2974A>T
15g.25340121T>CCA391351020SNHG14,UBE3Ac.2402A>G (p.Lys801Arg)
c.-2A>G (n.-2A>G)
c.2462A>G (p.Lys821Arg)
c.2471A>G (p.Lys824Arg)
c.2285A>G (p.Lys762Arg)
n.5158A>G
c.413A>G (p.Lys138Arg)
c.273A>G
c.2306A>G (p.Lys769Arg)
c.2246A>G (p.Lys749Arg)
c.2237A>G (p.Lys746Arg)
c.1211A>G (p.Lys404Arg)
c.1151A>G (p.Lys384Arg)
n.18393-51475T>C
n.3006A>G
c.2315A>G (p.Lys772Arg)
n.2974A>G
 dbSNP gnomAD v2 gnomAD v4
15g.25340121T>GCA391351021SNHG14,UBE3Ac.2402A>C (p.Lys801Thr)
c.-2A>C (n.-2A>C)
c.2462A>C (p.Lys821Thr)
c.2471A>C (p.Lys824Thr)
c.2285A>C (p.Lys762Thr)
n.5158A>C
c.413A>C (p.Lys138Thr)
c.273A>C
c.2306A>C (p.Lys769Thr)
c.2246A>C (p.Lys749Thr)
c.2237A>C (p.Lys746Thr)
c.1211A>C (p.Lys404Thr)
c.1151A>C (p.Lys384Thr)
n.18393-51475T>G
n.3006A>C
c.2315A>C (p.Lys772Thr)
n.2974A>C
15g.25340121T=CA2165187400SNHG14,UBE3Ac.2402A= (p.Lys801=)
c.-2A= (n.-2A=)
c.2462A= (p.Lys821=)
c.2471A= (p.Lys824=)
c.2285A= (p.Lys762=)
n.5158A=
c.413A= (p.Lys138=)
c.273A=
c.2306A= (p.Lys769=)
c.2246A= (p.Lys749=)
c.2237A= (p.Lys746=)
c.1211A= (p.Lys404=)
c.1151A= (p.Lys384=)
n.18393-51475T=
n.3006A=
c.2315A= (p.Lys772=)
n.2974A=
15g.25340122T>ACA391351028SNHG14,UBE3Ac.2401A>T (p.Lys801Ter)
c.-3A>T (n.-3A>T)
c.2461A>T (p.Lys821Ter)
c.2470A>T (p.Lys824Ter)
c.2284A>T (p.Lys762Ter)
n.5157A>T
c.412A>T (p.Lys138Ter)
c.272A>T
c.2305A>T (p.Lys769Ter)
c.2245A>T (p.Lys749Ter)
c.2236A>T (p.Lys746Ter)
c.1210A>T (p.Lys404Ter)
c.1150A>T (p.Lys384Ter)
n.18393-51474T>A
n.3005A>T
c.2314A>T (p.Lys772Ter)
n.2973A>T
15g.25340122T>CCA391351027SNHG14,UBE3Ac.2401A>G (p.Lys801Glu)
c.-3A>G (n.-3A>G)
c.2461A>G (p.Lys821Glu)
c.2470A>G (p.Lys824Glu)
c.2284A>G (p.Lys762Glu)
n.5157A>G
c.412A>G (p.Lys138Glu)
c.272A>G
c.2305A>G (p.Lys769Glu)
c.2245A>G (p.Lys749Glu)
c.2236A>G (p.Lys746Glu)
c.1210A>G (p.Lys404Glu)
c.1150A>G (p.Lys384Glu)
n.18393-51474T>C
n.3005A>G
c.2314A>G (p.Lys772Glu)
n.2973A>G
15g.25340122T>GCA391351025SNHG14,UBE3Ac.2401A>C (p.Lys801Gln)
c.-3A>C (n.-3A>C)
c.2461A>C (p.Lys821Gln)
c.2470A>C (p.Lys824Gln)
c.2284A>C (p.Lys762Gln)
n.5157A>C
c.412A>C (p.Lys138Gln)
c.272A>C
c.2305A>C (p.Lys769Gln)
c.2245A>C (p.Lys749Gln)
c.2236A>C (p.Lys746Gln)
c.1210A>C (p.Lys404Gln)
c.1150A>C (p.Lys384Gln)
n.18393-51474T>G
n.3005A>C
c.2314A>C (p.Lys772Gln)
n.2973A>C
15g.25340124_25340127dupCA2580089130SNHG14,UBE3Ac.2398_2401dup (p.Lys801IlefsTer23)
c.2398_2401dup (p.Lys801IlefsTer19)
c.-6_-3dup (n.-6_-3dup)
c.2458_2461dup (p.Lys821IlefsTer23)
c.2467_2470dup (p.Lys824IlefsTer23)
c.2281_2284dup (p.Lys762IlefsTer23)
n.5154_5157dup
c.409_412dup (p.Lys138IlefsTer23)
c.269_272dup
c.2302_2305dup (p.Lys769IlefsTer23)
c.2242_2245dup (p.Lys749IlefsTer23)
c.2233_2236dup (p.Lys746IlefsTer23)
c.1207_1210dup (p.Lys404IlefsTer23)
c.1147_1150dup (p.Lys384IlefsTer23)
n.18393-51472_18393-51469dup
n.3002_3005dup
c.2311_2314dup (p.Lys772IlefsTer23)
n.2970_2973dup
 ClinVar
15g.25340123T>ACA391351030SNHG14,UBE3Ac.2400A>T (p.Leu800Phe)
c.-4A>T (n.-4A>T)
c.2460A>T (p.Leu820Phe)
c.2469A>T (p.Leu823Phe)
c.2283A>T (p.Leu761Phe)
n.5156A>T
c.411A>T (p.Leu137Phe)
c.271A>T
c.2304A>T (p.Leu768Phe)
c.2244A>T (p.Leu748Phe)
c.2235A>T (p.Leu745Phe)
c.1209A>T (p.Leu403Phe)
c.1149A>T (p.Leu383Phe)
n.18393-51473T>A
n.3004A>T
c.2313A>T (p.Leu771Phe)
n.2972A>T
15g.25340123T>CCA7435359SNHG14,UBE3Ac.2400A>G (p.Leu800=)
c.-4A>G (n.-4A>G)
c.2460A>G (p.Leu820=)
c.2469A>G (p.Leu823=)
c.2283A>G (p.Leu761=)
n.5156A>G
c.411A>G (p.Leu137=)
c.271A>G
c.2304A>G (p.Leu768=)
c.2244A>G (p.Leu748=)
c.2235A>G (p.Leu745=)
c.1209A>G (p.Leu403=)
c.1149A>G (p.Leu383=)
n.18393-51473T>C
n.3004A>G
c.2313A>G (p.Leu771=)
n.2972A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.25340123T>GCA391351033SNHG14,UBE3Ac.2400A>C (p.Leu800Phe)
c.-4A>C (n.-4A>C)
c.2460A>C (p.Leu820Phe)
c.2469A>C (p.Leu823Phe)
c.2283A>C (p.Leu761Phe)
n.5156A>C
c.411A>C (p.Leu137Phe)
c.271A>C
c.2304A>C (p.Leu768Phe)
c.2244A>C (p.Leu748Phe)
c.2235A>C (p.Leu745Phe)
c.1209A>C (p.Leu403Phe)
c.1149A>C (p.Leu383Phe)
n.18393-51473T>G
n.3004A>C
c.2313A>C (p.Leu771Phe)
n.2972A>C
15g.25340123T=CA2165187403SNHG14,UBE3Ac.2400A= (p.Leu800=)
c.-4A= (n.-4A=)
c.2460A= (p.Leu820=)
c.2469A= (p.Leu823=)
c.2283A= (p.Leu761=)
n.5156A=
c.411A= (p.Leu137=)
c.271A=
c.2304A= (p.Leu768=)
c.2244A= (p.Leu748=)
c.2235A= (p.Leu745=)
c.1209A= (p.Leu403=)
c.1149A= (p.Leu383=)
n.18393-51473T=
n.3004A=
c.2313A= (p.Leu771=)
n.2972A=
15g.25340124A>CCA391351035SNHG14,UBE3Ac.2399T>G (p.Leu800Ter)
c.-5T>G (n.-5T>G)
c.2459T>G (p.Leu820Ter)
c.2468T>G (p.Leu823Ter)
c.2282T>G (p.Leu761Ter)
n.5155T>G
c.410T>G (p.Leu137Ter)
c.270T>G
c.2303T>G (p.Leu768Ter)
c.2243T>G (p.Leu748Ter)
c.2234T>G (p.Leu745Ter)
c.1208T>G (p.Leu403Ter)
c.1148T>G (p.Leu383Ter)
n.18393-51472A>C
n.3003T>G
c.2312T>G (p.Leu771Ter)
n.2971T>G
15g.25340124A>GCA391351037SNHG14,UBE3Ac.2399T>C (p.Leu800Ser)
c.-5T>C (n.-5T>C)
c.2459T>C (p.Leu820Ser)
c.2468T>C (p.Leu823Ser)
c.2282T>C (p.Leu761Ser)
n.5155T>C
c.410T>C (p.Leu137Ser)
c.270T>C
c.2303T>C (p.Leu768Ser)
c.2243T>C (p.Leu748Ser)
c.2234T>C (p.Leu745Ser)
c.1208T>C (p.Leu403Ser)
c.1148T>C (p.Leu383Ser)
n.18393-51472A>G
n.3003T>C
c.2312T>C (p.Leu771Ser)
n.2971T>C
15g.25340124A>TCA391351039SNHG14,UBE3Ac.2399T>A (p.Leu800Ter)
c.-5T>A (n.-5T>A)
c.2459T>A (p.Leu820Ter)
c.2468T>A (p.Leu823Ter)
c.2282T>A (p.Leu761Ter)
n.5155T>A
c.410T>A (p.Leu137Ter)
c.270T>A
c.2303T>A (p.Leu768Ter)
c.2243T>A (p.Leu748Ter)
c.2234T>A (p.Leu745Ter)
c.1208T>A (p.Leu403Ter)
c.1148T>A (p.Leu383Ter)
n.18393-51472A>T
n.3003T>A
c.2312T>A (p.Leu771Ter)
n.2971T>A
15g.25340125A=CA2165187410SNHG14,UBE3Ac.2398T= (p.Leu800=)
c.-6T= (n.-6T=)
c.2458T= (p.Leu820=)
c.2467T= (p.Leu823=)
c.2281T= (p.Leu761=)
n.5154T=
c.409T= (p.Leu137=)
c.269T=
c.2302T= (p.Leu768=)
c.2242T= (p.Leu748=)
c.2233T= (p.Leu745=)
c.1207T= (p.Leu403=)
c.1147T= (p.Leu383=)
n.18393-51471A=
n.3002T=
c.2311T= (p.Leu771=)
n.2970T=
15g.25340125A>CCA391351041SNHG14,UBE3Ac.2398T>G (p.Leu800Val)
c.-6T>G (n.-6T>G)
c.2458T>G (p.Leu820Val)
c.2467T>G (p.Leu823Val)
c.2281T>G (p.Leu761Val)
n.5154T>G
c.409T>G (p.Leu137Val)
c.269T>G
c.2302T>G (p.Leu768Val)
c.2242T>G (p.Leu748Val)
c.2233T>G (p.Leu745Val)
c.1207T>G (p.Leu403Val)
c.1147T>G (p.Leu383Val)
n.18393-51471A>C
n.3002T>G
c.2311T>G (p.Leu771Val)
n.2970T>G
 gnomAD v4
15g.25340125A>GCA267758929SNHG14,UBE3Ac.2398T>C (p.Leu800=)
c.-6T>C (n.-6T>C)
c.2458T>C (p.Leu820=)
c.2467T>C (p.Leu823=)
c.2281T>C (p.Leu761=)
n.5154T>C
c.409T>C (p.Leu137=)
c.269T>C
c.2302T>C (p.Leu768=)
c.2242T>C (p.Leu748=)
c.2233T>C (p.Leu745=)
c.1207T>C (p.Leu403=)
c.1147T>C (p.Leu383=)
n.18393-51471A>G
n.3002T>C
c.2311T>C (p.Leu771=)
n.2970T>C
 dbSNP gnomAD v4
15g.25340125A>TCA391351044SNHG14,UBE3Ac.2398T>A (p.Leu800Ile)
c.-6T>A (n.-6T>A)
c.2458T>A (p.Leu820Ile)
c.2467T>A (p.Leu823Ile)
c.2281T>A (p.Leu761Ile)
n.5154T>A
c.409T>A (p.Leu137Ile)
c.269T>A
c.2302T>A (p.Leu768Ile)
c.2242T>A (p.Leu748Ile)
c.2233T>A (p.Leu745Ile)
c.1207T>A (p.Leu403Ile)
c.1147T>A (p.Leu383Ile)
n.18393-51471A>T
n.3002T>A
c.2311T>A (p.Leu771Ile)
n.2970T>A
15g.25340126T>ACA391351045SNHG14,UBE3Ac.2397A>T (p.Lys799Asn)
c.-7A>T (n.-7A>T)
c.2457A>T (p.Lys819Asn)
c.2466A>T (p.Lys822Asn)
c.2280A>T (p.Lys760Asn)
n.5153A>T
c.408A>T (p.Lys136Asn)
c.268A>T
c.2301A>T (p.Lys767Asn)
c.2241A>T (p.Lys747Asn)
c.2232A>T (p.Lys744Asn)
c.1206A>T (p.Lys402Asn)
c.1146A>T (p.Lys382Asn)
n.18393-51470T>A
n.3001A>T
c.2310A>T (p.Lys770Asn)
n.2969A>T
15g.25340126T>CCA7435360SNHG14,UBE3Ac.2397A>G (p.Lys799=)
c.-7A>G (n.-7A>G)
c.2457A>G (p.Lys819=)
c.2466A>G (p.Lys822=)
c.2280A>G (p.Lys760=)
n.5153A>G
c.408A>G (p.Lys136=)
c.268A>G
c.2301A>G (p.Lys767=)
c.2241A>G (p.Lys747=)
c.2232A>G (p.Lys744=)
c.1206A>G (p.Lys402=)
c.1146A>G (p.Lys382=)
n.18393-51470T>C
n.3001A>G
c.2310A>G (p.Lys770=)
n.2969A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.25340126T>GCA391351046SNHG14,UBE3Ac.2397A>C (p.Lys799Asn)
c.-7A>C (n.-7A>C)
c.2457A>C (p.Lys819Asn)
c.2466A>C (p.Lys822Asn)
c.2280A>C (p.Lys760Asn)
n.5153A>C
c.408A>C (p.Lys136Asn)
c.268A>C
c.2301A>C (p.Lys767Asn)
c.2241A>C (p.Lys747Asn)
c.2232A>C (p.Lys744Asn)
c.1206A>C (p.Lys402Asn)
c.1146A>C (p.Lys382Asn)
n.18393-51470T>G
n.3001A>C
c.2310A>C (p.Lys770Asn)
n.2969A>C
15g.25340126T=CA2165187416SNHG14,UBE3Ac.2397A= (p.Lys799=)
c.-7A= (n.-7A=)
c.2457A= (p.Lys819=)
c.2466A= (p.Lys822=)
c.2280A= (p.Lys760=)
n.5153A=
c.408A= (p.Lys136=)
c.268A=
c.2301A= (p.Lys767=)
c.2241A= (p.Lys747=)
c.2232A= (p.Lys744=)
c.1206A= (p.Lys402=)
c.1146A= (p.Lys382=)
n.18393-51470T=
n.3001A=
c.2310A= (p.Lys770=)
n.2969A=
15g.25340127T>ACA391351049SNHG14,UBE3Ac.2396A>T (p.Lys799Ile)
c.-8A>T (n.-8A>T)
c.2456A>T (p.Lys819Ile)
c.2465A>T (p.Lys822Ile)
c.2279A>T (p.Lys760Ile)
n.5152A>T
c.407A>T (p.Lys136Ile)
c.267A>T
c.2300A>T (p.Lys767Ile)
c.2240A>T (p.Lys747Ile)
c.2231A>T (p.Lys744Ile)
c.1205A>T (p.Lys402Ile)
c.1145A>T (p.Lys382Ile)
n.18393-51469T>A
n.3000A>T
c.2309A>T (p.Lys770Ile)
n.2968A>T
15g.25340127T>CCA391351048SNHG14,UBE3Ac.2396A>G (p.Lys799Arg)
c.-8A>G (n.-8A>G)
c.2456A>G (p.Lys819Arg)
c.2465A>G (p.Lys822Arg)
c.2279A>G (p.Lys760Arg)
n.5152A>G
c.407A>G (p.Lys136Arg)
c.267A>G
c.2300A>G (p.Lys767Arg)
c.2240A>G (p.Lys747Arg)
c.2231A>G (p.Lys744Arg)
c.1205A>G (p.Lys402Arg)
c.1145A>G (p.Lys382Arg)
n.18393-51469T>C
n.3000A>G
c.2309A>G (p.Lys770Arg)
n.2968A>G
 gnomAD v4
15g.25340127T>GCA391351047SNHG14,UBE3Ac.2396A>C (p.Lys799Thr)
c.-8A>C (n.-8A>C)
c.2456A>C (p.Lys819Thr)
c.2465A>C (p.Lys822Thr)
c.2279A>C (p.Lys760Thr)
n.5152A>C
c.407A>C (p.Lys136Thr)
c.267A>C
c.2300A>C (p.Lys767Thr)
c.2240A>C (p.Lys747Thr)
c.2231A>C (p.Lys744Thr)
c.1205A>C (p.Lys402Thr)
c.1145A>C (p.Lys382Thr)
n.18393-51469T>G
n.3000A>C
c.2309A>C (p.Lys770Thr)
n.2968A>C
15g.25340127_25340128insCCCGATAAGTCAACCACGTCAGTACTTCCGTCAAAATTCGGGATTAAAGCGAACATTGACTTATACACATGGTGCGCATTAGACAAATGAGGTACTTTCTTCTGAAGAGCATCCATAAGTTCTTCACA912995470SNHG14,UBE3Ac.2395_2396insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (p.Lys799MetfsTer28)
c.-9_-8insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (n.-9_-8insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG)
c.2455_2456insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (p.Lys819MetfsTer28)
c.2464_2465insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (p.Lys822MetfsTer28)
c.2278_2279insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (p.Lys760MetfsTer28)
n.5151_5152insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG
c.406_407insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (p.Lys136MetfsTer28)
c.266_267insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG
c.2299_2300insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (p.Lys767MetfsTer28)
c.2239_2240insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (p.Lys747MetfsTer28)
c.2230_2231insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (p.Lys744MetfsTer28)
c.1204_1205insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (p.Lys402MetfsTer28)
c.1144_1145insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (p.Lys382MetfsTer28)
n.18393-51469_18393-51468insCCCGATAAGTCAACCACGTCAGTACTTCCGTCAAAATTCGGGATTAAAGCGAACATTGACTTATACACATGGTGCGCATTAGACAAATGAGGTACTTTCTTCTGAAGAGCATCCATAAGTTCTTCA
n.2999_3000insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG
c.2308_2309insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG (p.Lys770MetfsTer28)
n.2967_2968insTGAAGAACTTATGGATGCTCTTCAGAAGAAAGTACCTCATTTGTCTAATGCGCACCATGTGTATAAGTCAATGTTCGCTTTAATCCCGAATTTTGACGGAAGTACTGACGTGGTTGACTTATCGGG
15g.25340128T>ACA391351050SNHG14,UBE3Ac.2395A>T (p.Lys799Ter)
c.-9A>T (n.-9A>T)
c.2455A>T (p.Lys819Ter)
c.2464A>T (p.Lys822Ter)
c.2278A>T (p.Lys760Ter)
n.5151A>T
c.406A>T (p.Lys136Ter)
c.266A>T
c.2299A>T (p.Lys767Ter)
c.2239A>T (p.Lys747Ter)
c.2230A>T (p.Lys744Ter)
c.1204A>T (p.Lys402Ter)
c.1144A>T (p.Lys382Ter)
n.18393-51468T>A
n.2999A>T
c.2308A>T (p.Lys770Ter)
n.2967A>T
15g.25340128T>CCA391351051SNHG14,UBE3Ac.2395A>G (p.Lys799Glu)
c.-9A>G (n.-9A>G)
c.2455A>G (p.Lys819Glu)
c.2464A>G (p.Lys822Glu)
c.2278A>G (p.Lys760Glu)
n.5151A>G
c.406A>G (p.Lys136Glu)
c.266A>G
c.2299A>G (p.Lys767Glu)
c.2239A>G (p.Lys747Glu)
c.2230A>G (p.Lys744Glu)
c.1204A>G (p.Lys402Glu)
c.1144A>G (p.Lys382Glu)
n.18393-51468T>C
n.2999A>G
c.2308A>G (p.Lys770Glu)
n.2967A>G
15g.25340128T>GCA391351052SNHG14,UBE3Ac.2395A>C (p.Lys799Gln)
c.-9A>C (n.-9A>C)
c.2455A>C (p.Lys819Gln)
c.2464A>C (p.Lys822Gln)
c.2278A>C (p.Lys760Gln)
n.5151A>C
c.406A>C (p.Lys136Gln)
c.266A>C
c.2299A>C (p.Lys767Gln)
c.2239A>C (p.Lys747Gln)
c.2230A>C (p.Lys744Gln)
c.1204A>C (p.Lys402Gln)
c.1144A>C (p.Lys382Gln)
n.18393-51468T>G
n.2999A>C
c.2308A>C (p.Lys770Gln)
n.2967A>C
15g.25340129T>ACA488874041SNHG14,UBE3Ac.2394A>T (p.Gly798=)
c.-10A>T (n.-10A>T)
c.2454A>T (p.Gly818=)
c.2463A>T (p.Gly821=)
c.2277A>T (p.Gly759=)
n.5150A>T
c.405A>T (p.Gly135=)
c.265A>T
c.2298A>T (p.Gly766=)
c.2238A>T (p.Gly746=)
c.2229A>T (p.Gly743=)
c.1203A>T (p.Gly401=)
c.1143A>T (p.Gly381=)
n.18393-51467T>A
n.2998A>T
c.2307A>T (p.Gly769=)
n.2966A>T
15g.25340129T>CCA488874045SNHG14,UBE3Ac.2394A>G (p.Gly798=)
c.-10A>G (n.-10A>G)
c.2454A>G (p.Gly818=)
c.2463A>G (p.Gly821=)
c.2277A>G (p.Gly759=)
n.5150A>G
c.405A>G (p.Gly135=)
c.265A>G
c.2298A>G (p.Gly766=)
c.2238A>G (p.Gly746=)
c.2229A>G (p.Gly743=)
c.1203A>G (p.Gly401=)
c.1143A>G (p.Gly381=)
n.18393-51467T>C
n.2998A>G
c.2307A>G (p.Gly769=)
n.2966A>G
15g.25340129T>GCA488874056SNHG14,UBE3Ac.2394A>C (p.Gly798=)
c.-10A>C (n.-10A>C)
c.2454A>C (p.Gly818=)
c.2463A>C (p.Gly821=)
c.2277A>C (p.Gly759=)
n.5150A>C
c.405A>C (p.Gly135=)
c.265A>C
c.2298A>C (p.Gly766=)
c.2238A>C (p.Gly746=)
c.2229A>C (p.Gly743=)
c.1203A>C (p.Gly401=)
c.1143A>C (p.Gly381=)
n.18393-51467T>G
n.2998A>C
c.2307A>C (p.Gly769=)
n.2966A>C
 gnomAD v4
15g.25340130C>ACA391351053SNHG14,UBE3Ac.2393G>T (p.Gly798Val)
c.-11G>T (n.-11G>T)
c.2453G>T (p.Gly818Val)
c.2462G>T (p.Gly821Val)
c.2276G>T (p.Gly759Val)
n.5149G>T
c.404G>T (p.Gly135Val)
c.264G>T
c.2297G>T (p.Gly766Val)
c.2237G>T (p.Gly746Val)
c.2228G>T (p.Gly743Val)
c.1202G>T (p.Gly401Val)
c.1142G>T (p.Gly381Val)
n.18393-51466C>A
n.2997G>T
c.2306G>T (p.Gly769Val)
n.2965G>T
 COSMIC COSMIC
15g.25340130C>GCA391351054SNHG14,UBE3Ac.2393G>C (p.Gly798Ala)
c.-11G>C (n.-11G>C)
c.2453G>C (p.Gly818Ala)
c.2462G>C (p.Gly821Ala)
c.2276G>C (p.Gly759Ala)
n.5149G>C
c.404G>C (p.Gly135Ala)
c.264G>C
c.2297G>C (p.Gly766Ala)
c.2237G>C (p.Gly746Ala)
c.2228G>C (p.Gly743Ala)
c.1202G>C (p.Gly401Ala)
c.1142G>C (p.Gly381Ala)
n.18393-51466C>G
n.2997G>C
c.2306G>C (p.Gly769Ala)
n.2965G>C
15g.25340130C>TCA391351055SNHG14,UBE3Ac.2393G>A (p.Gly798Glu)
c.-11G>A (n.-11G>A)
c.2453G>A (p.Gly818Glu)
c.2462G>A (p.Gly821Glu)
c.2276G>A (p.Gly759Glu)
n.5149G>A
c.404G>A (p.Gly135Glu)
c.264G>A
c.2297G>A (p.Gly766Glu)
c.2237G>A (p.Gly746Glu)
c.2228G>A (p.Gly743Glu)
c.1202G>A (p.Gly401Glu)
c.1142G>A (p.Gly381Glu)
n.18393-51466C>T
n.2997G>A
c.2306G>A (p.Gly769Glu)
n.2965G>A
15g.25340131C>ACA391351056SNHG14,UBE3Ac.2392G>T (p.Gly798Ter)
c.-12G>T (n.-12G>T)
c.2452G>T (p.Gly818Ter)
c.2461G>T (p.Gly821Ter)
c.2275G>T (p.Gly759Ter)
n.5148G>T
c.403G>T (p.Gly135Ter)
c.263G>T
c.2296G>T (p.Gly766Ter)
c.2236G>T (p.Gly746Ter)
c.2227G>T (p.Gly743Ter)
c.1201G>T (p.Gly401Ter)
c.1141G>T (p.Gly381Ter)
n.18393-51465C>A
n.2996G>T
c.2305G>T (p.Gly769Ter)
n.2964G>T
15g.25340131C>GCA391351057SNHG14,UBE3Ac.2392G>C (p.Gly798Arg)
c.-12G>C (n.-12G>C)
c.2452G>C (p.Gly818Arg)
c.2461G>C (p.Gly821Arg)
c.2275G>C (p.Gly759Arg)
n.5148G>C
c.403G>C (p.Gly135Arg)
c.263G>C
c.2296G>C (p.Gly766Arg)
c.2236G>C (p.Gly746Arg)
c.2227G>C (p.Gly743Arg)
c.1201G>C (p.Gly401Arg)
c.1141G>C (p.Gly381Arg)
n.18393-51465C>G
n.2996G>C
c.2305G>C (p.Gly769Arg)
n.2964G>C
15g.25340131C>TCA391351058SNHG14,UBE3Ac.2392G>A (p.Gly798Arg)
c.-12G>A (n.-12G>A)
c.2452G>A (p.Gly818Arg)
c.2461G>A (p.Gly821Arg)
c.2275G>A (p.Gly759Arg)
n.5148G>A
c.403G>A (p.Gly135Arg)
c.263G>A
c.2296G>A (p.Gly766Arg)
c.2236G>A (p.Gly746Arg)
c.2227G>A (p.Gly743Arg)
c.1201G>A (p.Gly401Arg)
c.1141G>A (p.Gly381Arg)
n.18393-51465C>T
n.2996G>A
c.2305G>A (p.Gly769Arg)
n.2964G>A
15g.25340132T>ACA488874075SNHG14,UBE3Ac.2391A>T (p.Leu797=)
c.-13A>T (n.-13A>T)
c.2451A>T (p.Leu817=)
c.2460A>T (p.Leu820=)
c.2274A>T (p.Leu758=)
n.5147A>T
c.402A>T (p.Leu134=)
c.262A>T
c.2295A>T (p.Leu765=)
c.2235A>T (p.Leu745=)
c.2226A>T (p.Leu742=)
c.1200A>T (p.Leu400=)
c.1140A>T (p.Leu380=)
n.18393-51464T>A
n.2995A>T
c.2304A>T (p.Leu768=)
n.2963A>T

Number of alleles fetched