Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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

Number of alleles fetched