Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
2g.214932654C>TCA350792335ABCA12,SNHG31c.7768G>A (p.Asp2590Asn)
c.6814G>A (p.Asp2272Asn)
n.8068G>A
n.322-15171C>T
c.7777G>A (p.Asp2593Asn)
n.8266G>A
2g.214932655T>ACA350792336ABCA12,SNHG31c.7767A>T (p.Gln2589His)
c.6813A>T (p.Gln2271His)
n.8067A>T
n.322-15170T>A
c.7776A>T (p.Gln2592His)
n.8265A>T
2g.214932655T>CCA431319030ABCA12,SNHG31c.7767A>G (p.Gln2589=)
c.6813A>G (p.Gln2271=)
n.8067A>G
n.322-15170T>C
c.7776A>G (p.Gln2592=)
n.8265A>G
 COSMIC COSMIC
2g.214932655T>GCA350792337ABCA12,SNHG31c.7767A>C (p.Gln2589His)
c.6813A>C (p.Gln2271His)
n.8067A>C
n.322-15170T>G
c.7776A>C (p.Gln2592His)
n.8265A>C
 dbSNP
2g.214932655T=CA1327141147ABCA12,SNHG31c.7767A= (p.Gln2589=)
c.6813A= (p.Gln2271=)
n.8067A=
n.322-15170T=
c.7776A= (p.Gln2592=)
n.8265A=
2g.214932656T>ACA350792338ABCA12,SNHG31c.7766A>T (p.Gln2589Leu)
c.6812A>T (p.Gln2271Leu)
n.8066A>T
n.322-15169T>A
c.7775A>T (p.Gln2592Leu)
n.8264A>T
2g.214932656T>CCA350792339ABCA12,SNHG31c.7766A>G (p.Gln2589Arg)
c.6812A>G (p.Gln2271Arg)
n.8066A>G
n.322-15169T>C
c.7775A>G (p.Gln2592Arg)
n.8264A>G
 gnomAD v4
2g.214932656T>GCA350792340ABCA12,SNHG31c.7766A>C (p.Gln2589Pro)
c.6812A>C (p.Gln2271Pro)
n.8066A>C
n.322-15169T>G
c.7775A>C (p.Gln2592Pro)
n.8264A>C
2g.214932657G>ACA350792341ABCA12,SNHG31c.7765C>T (p.Gln2589Ter)
c.6811C>T (p.Gln2271Ter)
n.8065C>T
n.322-15168G>A
c.7774C>T (p.Gln2592Ter)
n.8263C>T
 gnomAD v4
2g.214932657G>CCA350792343ABCA12,SNHG31c.7765C>G (p.Gln2589Glu)
c.6811C>G (p.Gln2271Glu)
n.8065C>G
n.322-15168G>C
c.7774C>G (p.Gln2592Glu)
n.8263C>G
2g.214932657G>TCA350792342ABCA12,SNHG31c.7765C>A (p.Gln2589Lys)
c.6811C>A (p.Gln2271Lys)
n.8065C>A
n.322-15168G>T
c.7774C>A (p.Gln2592Lys)
n.8263C>A
 gnomAD v4
2g.214932658T>ACA431319031ABCA12,SNHG31c.7764A>T (p.Ser2588=)
c.6810A>T (p.Ser2270=)
n.8064A>T
n.322-15167T>A
c.7773A>T (p.Ser2591=)
n.8262A>T
2g.214932658T>CCA431319032ABCA12,SNHG31c.7764A>G (p.Ser2588=)
c.6810A>G (p.Ser2270=)
n.8064A>G
n.322-15167T>C
c.7773A>G (p.Ser2591=)
n.8262A>G
2g.214932658T>GCA431319033ABCA12,SNHG31c.7764A>C (p.Ser2588=)
c.6810A>C (p.Ser2270=)
n.8064A>C
n.322-15167T>G
c.7773A>C (p.Ser2591=)
n.8262A>C
2g.214932659G>ACA350792344ABCA12,SNHG31c.7763C>T (p.Ser2588Leu)
c.6809C>T (p.Ser2270Leu)
n.8063C>T
n.322-15166G>A
c.7772C>T (p.Ser2591Leu)
n.8261C>T
 gnomAD v4
2g.214932659G>CCA350792345ABCA12,SNHG31c.7763C>G (p.Ser2588Ter)
c.6809C>G (p.Ser2270Ter)
n.8063C>G
n.322-15166G>C
c.7772C>G (p.Ser2591Ter)
n.8261C>G
2g.214932659G>TCA350792346ABCA12,SNHG31c.7763C>A (p.Ser2588Ter)
c.6809C>A (p.Ser2270Ter)
n.8063C>A
n.322-15166G>T
c.7772C>A (p.Ser2591Ter)
n.8261C>A
2g.214932660A>CCA350792347ABCA12,SNHG31c.7762T>G (p.Ser2588Ala)
c.6808T>G (p.Ser2270Ala)
n.8062T>G
n.322-15165A>C
c.7771T>G (p.Ser2591Ala)
n.8260T>G
2g.214932660A>GCA350792348ABCA12,SNHG31c.7762T>C (p.Ser2588Pro)
c.6808T>C (p.Ser2270Pro)
n.8062T>C
n.322-15165A>G
c.7771T>C (p.Ser2591Pro)
n.8260T>C
2g.214932660A>TCA350792349ABCA12,SNHG31c.7762T>A (p.Ser2588Thr)
c.6808T>A (p.Ser2270Thr)
n.8062T>A
n.322-15165A>T
c.7771T>A (p.Ser2591Thr)
n.8260T>A
2g.214932661G>ACA431319034ABCA12,SNHG31c.7761C>T (p.Asp2587=)
c.6807C>T (p.Asp2269=)
n.8061C>T
n.322-15164G>A
c.7770C>T (p.Asp2590=)
n.8259C>T
2g.214932661G>CCA350792350ABCA12,SNHG31c.7761C>G (p.Asp2587Glu)
c.6807C>G (p.Asp2269Glu)
n.8061C>G
n.322-15164G>C
c.7770C>G (p.Asp2590Glu)
n.8259C>G
 dbSNP gnomAD v3 gnomAD v4
2g.214932661G=CA1327141151ABCA12,SNHG31c.7761C= (p.Asp2587=)
c.6807C= (p.Asp2269=)
n.8061C=
n.322-15164G=
c.7770C= (p.Asp2590=)
n.8259C=
2g.214932661G>TCA350792351ABCA12,SNHG31c.7761C>A (p.Asp2587Glu)
c.6807C>A (p.Asp2269Glu)
n.8061C>A
n.322-15164G>T
c.7770C>A (p.Asp2590Glu)
n.8259C>A
2g.214932662T>ACA350792352ABCA12,SNHG31c.7760A>T (p.Asp2587Val)
c.6806A>T (p.Asp2269Val)
n.8060A>T
n.322-15163T>A
c.7769A>T (p.Asp2590Val)
n.8258A>T
2g.214932662T>CCA350792353ABCA12,SNHG31c.7760A>G (p.Asp2587Gly)
c.6806A>G (p.Asp2269Gly)
n.8060A>G
n.322-15163T>C
c.7769A>G (p.Asp2590Gly)
n.8258A>G
2g.214932662T>GCA350792354ABCA12,SNHG31c.7760A>C (p.Asp2587Ala)
c.6806A>C (p.Asp2269Ala)
n.8060A>C
n.322-15163T>G
c.7769A>C (p.Asp2590Ala)
n.8258A>C
2g.214932663C>ACA350792356ABCA12,SNHG31c.7759G>T (p.Asp2587Tyr)
c.6805G>T (p.Asp2269Tyr)
n.8059G>T
n.322-15162C>A
c.7768G>T (p.Asp2590Tyr)
n.8257G>T
2g.214932663C=CA1327141153ABCA12,SNHG31c.7759G= (p.Asp2587=)
c.6805G= (p.Asp2269=)
n.8059G=
n.322-15162C=
c.7768G= (p.Asp2590=)
n.8257G=
2g.214932663C>GCA2090556ABCA12,SNHG31c.7759G>C (p.Asp2587His)
c.6805G>C (p.Asp2269His)
n.8059G>C
n.322-15162C>G
c.7768G>C (p.Asp2590His)
n.8257G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214932663C>TCA350792355ABCA12,SNHG31c.7759G>A (p.Asp2587Asn)
c.6805G>A (p.Asp2269Asn)
n.8059G>A
n.322-15162C>T
c.7768G>A (p.Asp2590Asn)
n.8257G>A
2g.214932664A>CCA431319035ABCA12,SNHG31c.7758T>G (p.Val2586=)
c.6804T>G (p.Val2268=)
n.8058T>G
n.322-15161A>C
c.7767T>G (p.Val2589=)
n.8256T>G
2g.214932664A>GCA431319036ABCA12,SNHG31c.7758T>C (p.Val2586=)
c.6804T>C (p.Val2268=)
n.8058T>C
n.322-15161A>G
c.7767T>C (p.Val2589=)
n.8256T>C
 gnomAD v4
2g.214932664A>TCA431319037ABCA12,SNHG31c.7758T>A (p.Val2586=)
c.6804T>A (p.Val2268=)
n.8058T>A
n.322-15161A>T
c.7767T>A (p.Val2589=)
n.8256T>A
2g.214932665A=CA1327141154ABCA12,SNHG31c.7757T= (p.Val2586=)
c.6803T= (p.Val2268=)
n.8057T=
n.322-15160A=
c.7766T= (p.Val2589=)
n.8255T=
2g.214932665A>CCA350792357ABCA12,SNHG31c.7757T>G (p.Val2586Gly)
c.6803T>G (p.Val2268Gly)
n.8057T>G
n.322-15160A>C
c.7766T>G (p.Val2589Gly)
n.8255T>G
2g.214932665A>GCA350792358ABCA12,SNHG31c.7757T>C (p.Val2586Ala)
c.6803T>C (p.Val2268Ala)
n.8057T>C
n.322-15160A>G
c.7766T>C (p.Val2589Ala)
n.8255T>C
2g.214932665A>TCA350792359ABCA12,SNHG31c.7757T>A (p.Val2586Asp)
c.6803T>A (p.Val2268Asp)
n.8057T>A
n.322-15160A>T
c.7766T>A (p.Val2589Asp)
n.8255T>A
 dbSNP
2g.214932666C>ACA350792360ABCA12,SNHG31c.7756G>T (p.Val2586Phe)
c.6802G>T (p.Val2268Phe)
n.8056G>T
n.322-15159C>A
c.7765G>T (p.Val2589Phe)
n.8254G>T
2g.214932666C=CA1327141156ABCA12,SNHG31c.7756G= (p.Val2586=)
c.6802G= (p.Val2268=)
n.8056G=
n.322-15159C=
c.7765G= (p.Val2589=)
n.8254G=
2g.214932666C>GCA350792361ABCA12,SNHG31c.7756G>C (p.Val2586Leu)
c.6802G>C (p.Val2268Leu)
n.8056G>C
n.322-15159C>G
c.7765G>C (p.Val2589Leu)
n.8254G>C
2g.214932666C>TCA350792362ABCA12,SNHG31c.7756G>A (p.Val2586Ile)
c.6802G>A (p.Val2268Ile)
n.8056G>A
n.322-15159C>T
c.7765G>A (p.Val2589Ile)
n.8254G>A
2g.214932667A=CA1327141158ABCA12,SNHG31c.7755T= (p.Ser2585=)
c.6801T= (p.Ser2267=)
n.8055T=
n.322-15158A=
c.7764T= (p.Ser2588=)
n.8253T=
2g.214932667A>CCA350792364ABCA12,SNHG31c.7755T>G (p.Ser2585Arg)
c.6801T>G (p.Ser2267Arg)
n.8055T>G
n.322-15158A>C
c.7764T>G (p.Ser2588Arg)
n.8253T>G
 gnomAD v4
2g.214932667A>GCA431319038ABCA12,SNHG31c.7755T>C (p.Ser2585=)
c.6801T>C (p.Ser2267=)
n.8055T>C
n.322-15158A>G
c.7764T>C (p.Ser2588=)
n.8253T>C
 gnomAD v4
2g.214932667A>TCA350792363ABCA12,SNHG31c.7755T>A (p.Ser2585Arg)
c.6801T>A (p.Ser2267Arg)
n.8055T>A
n.322-15158A>T
c.7764T>A (p.Ser2588Arg)
n.8253T>A
2g.214932668_214932671dupCA2090557ABCA12,SNHG31c.7752_7755dup (p.Val2586LysfsTer3)
c.6798_6801dup (p.Val2268LysfsTer3)
n.8052_8055dup
n.322-15157_322-15154dup
c.7761_7764dup (p.Val2589LysfsTer3)
n.8250_8253dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched