Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214990791C>ACA350468557ABCA12c.3535G>T (p.Gly1179Ter)
c.2581G>T (p.Gly861Ter)
n.3835G>T
n.4033G>T
 ClinVar
2g.214990791C=CA1327165354ABCA12c.3535G= (p.Gly1179=)
c.2581G= (p.Gly861=)
n.3835G=
n.4033G=
2g.214990791C>GCA350468560ABCA12c.3535G>C (p.Gly1179Arg)
c.2581G>C (p.Gly861Arg)
n.3835G>C
n.4033G>C
2g.214990791C>TCA252486ABCA12c.3535G>A (p.Gly1179Arg)
c.2581G>A (p.Gly861Arg)
n.3835G>A
n.4033G>A
 ClinVar dbSNP gnomAD v4
2g.214990792G>ACA2091718ABCA12c.3534C>T (p.Ile1178=)
c.2580C>T (p.Ile860=)
n.3834C>T
n.4032C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990792G>CCA350468570ABCA12c.3534C>G (p.Ile1178Met)
c.2580C>G (p.Ile860Met)
n.3834C>G
n.4032C>G
2g.214990792G=CA1327165355ABCA12c.3534C= (p.Ile1178=)
c.2580C= (p.Ile860=)
n.3834C=
n.4032C=
2g.214990792G>TCA431388042ABCA12c.3534C>A (p.Ile1178=)
c.2580C>A (p.Ile860=)
n.3834C>A
n.4032C>A
 ClinVar gnomAD v4
2g.214990793A>CCA350468577ABCA12c.3533T>G (p.Ile1178Ser)
c.2579T>G (p.Ile860Ser)
n.3833T>G
n.4031T>G
 gnomAD v4
2g.214990793A>GCA350468572ABCA12c.3533T>C (p.Ile1178Thr)
c.2579T>C (p.Ile860Thr)
n.3833T>C
n.4031T>C
2g.214990793A>TCA350468575ABCA12c.3533T>A (p.Ile1178Asn)
c.2579T>A (p.Ile860Asn)
n.3833T>A
n.4031T>A
2g.214990794T>ACA350468583ABCA12c.3532A>T (p.Ile1178Phe)
c.2578A>T (p.Ile860Phe)
n.3832A>T
n.4030A>T
2g.214990794T>CCA350468586ABCA12c.3532A>G (p.Ile1178Val)
c.2578A>G (p.Ile860Val)
n.3832A>G
n.4030A>G
 gnomAD v4
2g.214990794T>GCA350468589ABCA12c.3532A>C (p.Ile1178Leu)
c.2578A>C (p.Ile860Leu)
n.3832A>C
n.4030A>C
2g.214990795C>ACA431388048ABCA12c.3531G>T (p.Leu1177=)
c.2577G>T (p.Leu859=)
n.3831G>T
n.4029G>T
2g.214990795C>GCA431388049ABCA12c.3531G>C (p.Leu1177=)
c.2577G>C (p.Leu859=)
n.3831G>C
n.4029G>C
2g.214990795C>TCA431388047ABCA12c.3531G>A (p.Leu1177=)
c.2577G>A (p.Leu859=)
n.3831G>A
n.4029G>A
2g.214990796A>CCA350468591ABCA12c.3530T>G (p.Leu1177Arg)
c.2576T>G (p.Leu859Arg)
n.3830T>G
n.4028T>G
2g.214990796A>GCA350468593ABCA12c.3530T>C (p.Leu1177Pro)
c.2576T>C (p.Leu859Pro)
n.3830T>C
n.4028T>C
2g.214990796A>TCA350468596ABCA12c.3530T>A (p.Leu1177Gln)
c.2576T>A (p.Leu859Gln)
n.3830T>A
n.4028T>A
2g.214990797G>ACA431388051ABCA12c.3529C>T (p.Leu1177=)
c.2575C>T (p.Leu859=)
n.3829C>T
n.4027C>T
2g.214990797G>CCA350468598ABCA12c.3529C>G (p.Leu1177Val)
c.2575C>G (p.Leu859Val)
n.3829C>G
n.4027C>G
2g.214990797G>TCA350468600ABCA12c.3529C>A (p.Leu1177Met)
c.2575C>A (p.Leu859Met)
n.3829C>A
n.4027C>A
2g.214990798A>CCA431388052ABCA12c.3528T>G (p.Ala1176=)
c.2574T>G (p.Ala858=)
n.3828T>G
n.4026T>G
2g.214990798A>GCA431388053ABCA12c.3528T>C (p.Ala1176=)
c.2574T>C (p.Ala858=)
n.3828T>C
n.4026T>C
2g.214990798A>TCA431388054ABCA12c.3528T>A (p.Ala1176=)
c.2574T>A (p.Ala858=)
n.3828T>A
n.4026T>A
2g.214990799G>ACA350468602ABCA12c.3527C>T (p.Ala1176Val)
c.2573C>T (p.Ala858Val)
n.3827C>T
n.4025C>T
2g.214990799G>CCA350468607ABCA12c.3527C>G (p.Ala1176Gly)
c.2573C>G (p.Ala858Gly)
n.3827C>G
n.4025C>G
2g.214990799G>TCA350468610ABCA12c.3527C>A (p.Ala1176Asp)
c.2573C>A (p.Ala858Asp)
n.3827C>A
n.4025C>A
2g.214990800C>ACA350468616ABCA12c.3526G>T (p.Ala1176Ser)
c.2572G>T (p.Ala858Ser)
n.3826G>T
n.4024G>T
2g.214990800C>GCA350468619ABCA12c.3526G>C (p.Ala1176Pro)
c.2572G>C (p.Ala858Pro)
n.3826G>C
n.4024G>C
2g.214990800C>TCA350468614ABCA12c.3526G>A (p.Ala1176Thr)
c.2572G>A (p.Ala858Thr)
n.3826G>A
n.4024G>A
 gnomAD v4
2g.214990801T>ACA431388057ABCA12c.3525A>T (p.Ala1175=)
c.2571A>T (p.Ala857=)
n.3825A>T
n.4023A>T
2g.214990801T>CCA431388056ABCA12c.3525A>G (p.Ala1175=)
c.2571A>G (p.Ala857=)
n.3825A>G
n.4023A>G
 gnomAD v4
2g.214990801T>GCA431388055ABCA12c.3525A>C (p.Ala1175=)
c.2571A>C (p.Ala857=)
n.3825A>C
n.4023A>C
2g.214990801_214990802insATGTATTGAAACA2572242644ABCA12c.3524_3525insTTTCAATACAT (p.Ala1176PhefsTer4)
c.2570_2571insTTTCAATACAT (p.Ala858PhefsTer4)
n.3824_3825insTTTCAATACAT
n.4022_4023insTTTCAATACAT
2g.214990802G>ACA350468621ABCA12c.3524C>T (p.Ala1175Val)
c.2570C>T (p.Ala857Val)
n.3824C>T
n.4022C>T
2g.214990802G>CCA350468623ABCA12c.3524C>G (p.Ala1175Gly)
c.2570C>G (p.Ala857Gly)
n.3824C>G
n.4022C>G
2g.214990802G>TCA350468629ABCA12c.3524C>A (p.Ala1175Glu)
c.2570C>A (p.Ala857Glu)
n.3824C>A
n.4022C>A
2g.214990803C>ACA350468638ABCA12c.3523G>T (p.Ala1175Ser)
c.2569G>T (p.Ala857Ser)
n.3823G>T
n.4021G>T
2g.214990803C>GCA350468639ABCA12c.3523G>C (p.Ala1175Pro)
c.2569G>C (p.Ala857Pro)
n.3823G>C
n.4021G>C
2g.214990803C>TCA350468646ABCA12c.3523G>A (p.Ala1175Thr)
c.2569G>A (p.Ala857Thr)
n.3823G>A
n.4021G>A
2g.214990804A=CA1327165356ABCA12c.3522T= (p.Ile1174=)
c.2568T= (p.Ile856=)
n.3822T=
n.4020T=
2g.214990804A>CCA350468649ABCA12c.3522T>G (p.Ile1174Met)
c.2568T>G (p.Ile856Met)
n.3822T>G
n.4020T>G
2g.214990804A>GCA2091719ABCA12c.3522T>C (p.Ile1174=)
c.2568T>C (p.Ile856=)
n.3822T>C
n.4020T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990804A>TCA431388060ABCA12c.3522T>A (p.Ile1174=)
c.2568T>A (p.Ile856=)
n.3822T>A
n.4020T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990805A=CA1327165357ABCA12c.3521T= (p.Ile1174=)
c.2567T= (p.Ile856=)
n.3821T=
n.4019T=
2g.214990805A>CCA350468651ABCA12c.3521T>G (p.Ile1174Ser)
c.2567T>G (p.Ile856Ser)
n.3821T>G
n.4019T>G
2g.214990805A>GCA2091720ABCA12c.3521T>C (p.Ile1174Thr)
c.2567T>C (p.Ile856Thr)
n.3821T>C
n.4019T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990805A>TCA350468656ABCA12c.3521T>A (p.Ile1174Asn)
c.2567T>A (p.Ile856Asn)
n.3821T>A
n.4019T>A

Number of alleles fetched