Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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=

Number of alleles fetched