Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214990954A>CCA431388377ABCA12c.3372T>G (p.Val1124=)
c.2418T>G (p.Val806=)
n.3672T>G
n.3870T>G
2g.214990954A>GCA431388378ABCA12c.3372T>C (p.Val1124=)
c.2418T>C (p.Val806=)
n.3672T>C
n.3870T>C
2g.214990954A>TCA431388379ABCA12c.3372T>A (p.Val1124=)
c.2418T>A (p.Val806=)
n.3672T>A
n.3870T>A
2g.214990955A>CCA350469469ABCA12c.3371T>G (p.Val1124Gly)
c.2417T>G (p.Val806Gly)
n.3671T>G
n.3869T>G
2g.214990955A>GCA350469473ABCA12c.3371T>C (p.Val1124Ala)
c.2417T>C (p.Val806Ala)
n.3671T>C
n.3869T>C
2g.214990955A>TCA350469471ABCA12c.3371T>A (p.Val1124Asp)
c.2417T>A (p.Val806Asp)
n.3671T>A
n.3869T>A
2g.214990956_214990958delCA2662978896ABCA12c.3369_3371del (p.Val1124del)
c.2415_2417del (p.Val806del)
n.3669_3671del
n.3867_3869del
 gnomAD v4
2g.214990956C>ACA350469476ABCA12c.3370G>T (p.Val1124Phe)
c.2416G>T (p.Val806Phe)
n.3670G>T
n.3868G>T
2g.214990956C>GCA350469477ABCA12c.3370G>C (p.Val1124Leu)
c.2416G>C (p.Val806Leu)
n.3670G>C
n.3868G>C
2g.214990956C>TCA350469480ABCA12c.3370G>A (p.Val1124Ile)
c.2416G>A (p.Val806Ile)
n.3670G>A
n.3868G>A
 gnomAD v4
2g.214990957C>ACA431388380ABCA12c.3369G>T (p.Leu1123=)
c.2415G>T (p.Leu805=)
n.3669G>T
n.3867G>T
2g.214990957C>GCA431388381ABCA12c.3369G>C (p.Leu1123=)
c.2415G>C (p.Leu805=)
n.3669G>C
n.3867G>C
2g.214990957C>TCA431388382ABCA12c.3369G>A (p.Leu1123=)
c.2415G>A (p.Leu805=)
n.3669G>A
n.3867G>A
2g.214990958A>CCA350469482ABCA12c.3368T>G (p.Leu1123Arg)
c.2414T>G (p.Leu805Arg)
n.3668T>G
n.3866T>G
2g.214990958A>GCA350469484ABCA12c.3368T>C (p.Leu1123Pro)
c.2414T>C (p.Leu805Pro)
n.3668T>C
n.3866T>C
2g.214990958A>TCA350469486ABCA12c.3368T>A (p.Leu1123Gln)
c.2414T>A (p.Leu805Gln)
n.3668T>A
n.3866T>A
2g.214990959G>ACA431388383ABCA12c.3367C>T (p.Leu1123=)
c.2413C>T (p.Leu805=)
n.3667C>T
n.3865C>T
 gnomAD v4
2g.214990959G>CCA350469488ABCA12c.3367C>G (p.Leu1123Val)
c.2413C>G (p.Leu805Val)
n.3667C>G
n.3865C>G
2g.214990959G>TCA350469490ABCA12c.3367C>A (p.Leu1123Met)
c.2413C>A (p.Leu805Met)
n.3667C>A
n.3865C>A
2g.214990960T>ACA350469493ABCA12c.3366A>T (p.Leu1122Phe)
c.2412A>T (p.Leu804Phe)
n.3666A>T
n.3864A>T
 dbSNP gnomAD v3 gnomAD v4
2g.214990960T>CCA431388384ABCA12c.3366A>G (p.Leu1122=)
c.2412A>G (p.Leu804=)
n.3666A>G
n.3864A>G
2g.214990960T>GCA350469494ABCA12c.3366A>C (p.Leu1122Phe)
c.2412A>C (p.Leu804Phe)
n.3666A>C
n.3864A>C
2g.214990960T=CA1327165413ABCA12c.3366A= (p.Leu1122=)
c.2412A= (p.Leu804=)
n.3666A=
n.3864A=
2g.214990960_214990961insGCA539837476ABCA12c.3365_3366insC (p.Leu1122PhefsTer20)
c.2411_2412insC (p.Leu804PhefsTer20)
n.3665_3666insC
n.3863_3864insC
 dbSNP gnomAD v2
2g.214990961A=CA1327165414ABCA12c.3365T= (p.Leu1122=)
c.2411T= (p.Leu804=)
n.3665T=
n.3863T=
2g.214990961A>CCA350469498ABCA12c.3365T>G (p.Leu1122Ter)
c.2411T>G (p.Leu804Ter)
n.3665T>G
n.3863T>G
2g.214990961A>GCA350469500ABCA12c.3365T>C (p.Leu1122Ser)
c.2411T>C (p.Leu804Ser)
n.3665T>C
n.3863T>C
 dbSNP gnomAD v2
2g.214990961A>TCA350469497ABCA12c.3365T>A (p.Leu1122Ter)
c.2411T>A (p.Leu804Ter)
n.3665T>A
n.3863T>A
2g.214990962A=CA1327165415ABCA12c.3364T= (p.Leu1122=)
c.2410T= (p.Leu804=)
n.3664T=
n.3862T=
2g.214990962A>CCA350469502ABCA12c.3364T>G (p.Leu1122Val)
c.2410T>G (p.Leu804Val)
n.3664T>G
n.3862T>G
 dbSNP
2g.214990962A>GCA431388386ABCA12c.3364T>C (p.Leu1122=)
c.2410T>C (p.Leu804=)
n.3664T>C
n.3862T>C
2g.214990962A>TCA350469505ABCA12c.3364T>A (p.Leu1122Ile)
c.2410T>A (p.Leu804Ile)
n.3664T>A
n.3862T>A
2g.214990963A=CA1327165416ABCA12c.3363T= (p.Phe1121=)
c.2409T= (p.Phe803=)
n.3663T=
n.3861T=
2g.214990963A>CCA350469509ABCA12c.3363T>G (p.Phe1121Leu)
c.2409T>G (p.Phe803Leu)
n.3663T>G
n.3861T>G
2g.214990963A>GCA431388387ABCA12c.3363T>C (p.Phe1121=)
c.2409T>C (p.Phe803=)
n.3663T>C
n.3861T>C
 dbSNP gnomAD v2
2g.214990963A>TCA350469511ABCA12c.3363T>A (p.Phe1121Leu)
c.2409T>A (p.Phe803Leu)
n.3663T>A
n.3861T>A
2g.214990964A>CCA350469515ABCA12c.3362T>G (p.Phe1121Cys)
c.2408T>G (p.Phe803Cys)
n.3662T>G
n.3860T>G
2g.214990964A>GCA350469518ABCA12c.3362T>C (p.Phe1121Ser)
c.2408T>C (p.Phe803Ser)
n.3662T>C
n.3860T>C
2g.214990964A>TCA350469520ABCA12c.3362T>A (p.Phe1121Tyr)
c.2408T>A (p.Phe803Tyr)
n.3662T>A
n.3860T>A
2g.214990965A>CCA350469523ABCA12c.3361T>G (p.Phe1121Val)
c.2407T>G (p.Phe803Val)
n.3661T>G
n.3859T>G
2g.214990965A>GCA350469525ABCA12c.3361T>C (p.Phe1121Leu)
c.2407T>C (p.Phe803Leu)
n.3661T>C
n.3859T>C
2g.214990965A>TCA350469527ABCA12c.3361T>A (p.Phe1121Ile)
c.2407T>A (p.Phe803Ile)
n.3661T>A
n.3859T>A
2g.214990966T>ACA431388391ABCA12c.3360A>T (p.Gly1120=)
c.2406A>T (p.Gly802=)
n.3660A>T
n.3858A>T
 gnomAD v4
2g.214990966T>CCA2091741ABCA12c.3360A>G (p.Gly1120=)
c.2406A>G (p.Gly802=)
n.3660A>G
n.3858A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990966T>GCA431388392ABCA12c.3360A>C (p.Gly1120=)
c.2406A>C (p.Gly802=)
n.3660A>C
n.3858A>C
2g.214990966T=CA1327165417ABCA12c.3360A= (p.Gly1120=)
c.2406A= (p.Gly802=)
n.3660A=
n.3858A=
2g.214990967C>ACA2091742ABCA12c.3359G>T (p.Gly1120Val)
c.2405G>T (p.Gly802Val)
n.3659G>T
n.3857G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990967C=CA1327165418ABCA12c.3359G= (p.Gly1120=)
c.2405G= (p.Gly802=)
n.3659G=
n.3857G=
2g.214990967C>GCA350469539ABCA12c.3359G>C (p.Gly1120Ala)
c.2405G>C (p.Gly802Ala)
n.3659G>C
n.3857G>C
2g.214990967C>TCA350469533ABCA12c.3359G>A (p.Gly1120Glu)
c.2405G>A (p.Gly802Glu)
n.3659G>A
n.3857G>A
 gnomAD v4
2g.214990968C>ACA350469542ABCA12c.3358G>T (p.Gly1120Ter)
c.2404G>T (p.Gly802Ter)
n.3658G>T
n.3856G>T
2g.214990968C>GCA350469546ABCA12c.3358G>C (p.Gly1120Arg)
c.2404G>C (p.Gly802Arg)
n.3658G>C
n.3856G>C
2g.214990968C>TCA350469548ABCA12c.3358G>A (p.Gly1120Arg)
c.2404G>A (p.Gly802Arg)
n.3658G>A
n.3856G>A
2g.214990969A>CCA431388393ABCA12c.3357T>G (p.Val1119=)
c.2403T>G (p.Val801=)
n.3657T>G
n.3855T>G
2g.214990969A>GCA431388395ABCA12c.3357T>C (p.Val1119=)
c.2403T>C (p.Val801=)
n.3657T>C
n.3855T>C
2g.214990969A>TCA431388394ABCA12c.3357T>A (p.Val1119=)
c.2403T>A (p.Val801=)
n.3657T>A
n.3855T>A
2g.214990970A>CCA350469550ABCA12c.3356T>G (p.Val1119Gly)
c.2402T>G (p.Val801Gly)
n.3656T>G
n.3854T>G
2g.214990970A>GCA350469551ABCA12c.3356T>C (p.Val1119Ala)
c.2402T>C (p.Val801Ala)
n.3656T>C
n.3854T>C
 gnomAD v4
2g.214990970A>TCA350469553ABCA12c.3356T>A (p.Val1119Asp)
c.2402T>A (p.Val801Asp)
n.3656T>A
n.3854T>A
2g.214990971C>ACA350469557ABCA12c.3355G>T (p.Val1119Phe)
c.2401G>T (p.Val801Phe)
n.3655G>T
n.3853G>T
 gnomAD v4
2g.214990971C>GCA350469568ABCA12c.3355G>C (p.Val1119Leu)
c.2401G>C (p.Val801Leu)
n.3655G>C
n.3853G>C
2g.214990971C>TCA350469567ABCA12c.3355G>A (p.Val1119Ile)
c.2401G>A (p.Val801Ile)
n.3655G>A
n.3853G>A
 ClinVar
2g.214990972A=CA1327165419ABCA12c.3354T= (p.Ser1118=)
c.2400T= (p.Ser800=)
n.3654T=
n.3852T=
2g.214990972A>CCA350469569ABCA12c.3354T>G (p.Ser1118Arg)
c.2400T>G (p.Ser800Arg)
n.3654T>G
n.3852T>G
 dbSNP gnomAD v2
2g.214990972A>GCA431388399ABCA12c.3354T>C (p.Ser1118=)
c.2400T>C (p.Ser800=)
n.3654T>C
n.3852T>C
 ClinVar
2g.214990972A>TCA350469570ABCA12c.3354T>A (p.Ser1118Arg)
c.2400T>A (p.Ser800Arg)
n.3654T>A
n.3852T>A
2g.214990973C>ACA350469572ABCA12c.3353G>T (p.Ser1118Ile)
c.2399G>T (p.Ser800Ile)
n.3653G>T
n.3851G>T
2g.214990973C=CA1327165420ABCA12c.3353G= (p.Ser1118=)
c.2399G= (p.Ser800=)
n.3653G=
n.3851G=
2g.214990973C>GCA350469574ABCA12c.3353G>C (p.Ser1118Thr)
c.2399G>C (p.Ser800Thr)
n.3653G>C
n.3851G>C
2g.214990973C>TCA350469576ABCA12c.3353G>A (p.Ser1118Asn)
c.2399G>A (p.Ser800Asn)
n.3653G>A
n.3851G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990974T>ACA350469584ABCA12c.3352A>T (p.Ser1118Cys)
c.2398A>T (p.Ser800Cys)
n.3652A>T
n.3850A>T
 gnomAD v4
2g.214990974T>CCA350469583ABCA12c.3352A>G (p.Ser1118Gly)
c.2398A>G (p.Ser800Gly)
n.3652A>G
n.3850A>G
 gnomAD v4
2g.214990974T>GCA350469582ABCA12c.3352A>C (p.Ser1118Arg)
c.2398A>C (p.Ser800Arg)
n.3652A>C
n.3850A>C
2g.214990975C>ACA350469588ABCA12c.3351G>T (p.Glu1117Asp)
c.2397G>T (p.Glu799Asp)
n.3651G>T
n.3849G>T
2g.214990975C=CA1327165421ABCA12c.3351G= (p.Glu1117=)
c.2397G= (p.Glu799=)
n.3651G=
n.3849G=
2g.214990975C>GCA350469586ABCA12c.3351G>C (p.Glu1117Asp)
c.2397G>C (p.Glu799Asp)
n.3651G>C
n.3849G>C
2g.214990975C>TCA2091743ABCA12c.3351G>A (p.Glu1117=)
c.2397G>A (p.Glu799=)
n.3651G>A
n.3849G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990976T>ACA350469591ABCA12c.3350A>T (p.Glu1117Val)
c.2396A>T (p.Glu799Val)
n.3650A>T
n.3848A>T
2g.214990976T>CCA350469593ABCA12c.3350A>G (p.Glu1117Gly)
c.2396A>G (p.Glu799Gly)
n.3650A>G
n.3848A>G
2g.214990976T>GCA350469594ABCA12c.3350A>C (p.Glu1117Ala)
c.2396A>C (p.Glu799Ala)
n.3650A>C
n.3848A>C
2g.214990977C>ACA350469595ABCA12c.3349G>T (p.Glu1117Ter)
c.2395G>T (p.Glu799Ter)
n.3649G>T
n.3847G>T
2g.214990977C>GCA350469596ABCA12c.3349G>C (p.Glu1117Gln)
c.2395G>C (p.Glu799Gln)
n.3649G>C
n.3847G>C
2g.214990977C>TCA350469597ABCA12c.3349G>A (p.Glu1117Lys)
c.2395G>A (p.Glu799Lys)
n.3649G>A
n.3847G>A
2g.214990978T>ACA431388401ABCA12c.3348A>T (p.Ile1116=)
c.2394A>T (p.Ile798=)
n.3648A>T
n.3846A>T
2g.214990978T>CCA350469598ABCA12c.3348A>G (p.Ile1116Met)
c.2394A>G (p.Ile798Met)
n.3648A>G
n.3846A>G
 dbSNP gnomAD v2 gnomAD v4
2g.214990978T>GCA431388403ABCA12c.3348A>C (p.Ile1116=)
c.2394A>C (p.Ile798=)
n.3648A>C
n.3846A>C
 gnomAD v4
2g.214990978T=CA1327165422ABCA12c.3348A= (p.Ile1116=)
c.2394A= (p.Ile798=)
n.3648A=
n.3846A=
2g.214990979A>CCA350469599ABCA12c.3347T>G (p.Ile1116Arg)
c.2393T>G (p.Ile798Arg)
n.3647T>G
n.3845T>G
2g.214990979A>GCA350469601ABCA12c.3347T>C (p.Ile1116Thr)
c.2393T>C (p.Ile798Thr)
n.3647T>C
n.3845T>C
2g.214990979A>TCA350469603ABCA12c.3347T>A (p.Ile1116Lys)
c.2393T>A (p.Ile798Lys)
n.3647T>A
n.3845T>A
2g.214990980T>ACA350469605ABCA12c.3346A>T (p.Ile1116Leu)
c.2392A>T (p.Ile798Leu)
n.3646A>T
n.3844A>T
2g.214990980T>CCA350469607ABCA12c.3346A>G (p.Ile1116Val)
c.2392A>G (p.Ile798Val)
n.3646A>G
n.3844A>G
2g.214990980T>GCA350469609ABCA12c.3346A>C (p.Ile1116Leu)
c.2392A>C (p.Ile798Leu)
n.3646A>C
n.3844A>C
2g.214990981A=CA1327165423ABCA12c.3345T= (p.Leu1115=)
c.2391T= (p.Leu797=)
n.3645T=
n.3843T=
2g.214990981A>CCA431388388ABCA12c.3345T>G (p.Leu1115=)
c.2391T>G (p.Leu797=)
n.3645T>G
n.3843T>G
2g.214990981A>GCA431388389ABCA12c.3345T>C (p.Leu1115=)
c.2391T>C (p.Leu797=)
n.3645T>C
n.3843T>C
 ClinVar dbSNP
2g.214990981A>TCA431388390ABCA12c.3345T>A (p.Leu1115=)
c.2391T>A (p.Leu797=)
n.3645T>A
n.3843T>A
2g.214990982A>CCA350469611ABCA12c.3344T>G (p.Leu1115Arg)
c.2390T>G (p.Leu797Arg)
n.3644T>G
n.3842T>G
2g.214990982A>GCA350469614ABCA12c.3344T>C (p.Leu1115Pro)
c.2390T>C (p.Leu797Pro)
n.3644T>C
n.3842T>C
2g.214990982A>TCA350469612ABCA12c.3344T>A (p.Leu1115His)
c.2390T>A (p.Leu797His)
n.3644T>A
n.3842T>A
2g.214990983G>ACA350469616ABCA12c.3343C>T (p.Leu1115Phe)
c.2389C>T (p.Leu797Phe)
n.3643C>T
n.3841C>T
 gnomAD v4
2g.214990983G>CCA350469617ABCA12c.3343C>G (p.Leu1115Val)
c.2389C>G (p.Leu797Val)
n.3643C>G
n.3841C>G
2g.214990983G>TCA350469618ABCA12c.3343C>A (p.Leu1115Ile)
c.2389C>A (p.Leu797Ile)
n.3643C>A
n.3841C>A
2g.214990984C>ACA350469620ABCA12c.3342G>T (p.Trp1114Cys)
c.2388G>T (p.Trp796Cys)
n.3642G>T
n.3840G>T
2g.214990984C>GCA350469621ABCA12c.3342G>C (p.Trp1114Cys)
c.2388G>C (p.Trp796Cys)
n.3642G>C
n.3840G>C
2g.214990984C>TCA350469623ABCA12c.3342G>A (p.Trp1114Ter)
c.2388G>A (p.Trp796Ter)
n.3642G>A
n.3840G>A
2g.214990985C>ACA350469625ABCA12c.3341G>T (p.Trp1114Leu)
c.2387G>T (p.Trp796Leu)
n.3641G>T
n.3839G>T
2g.214990985C>GCA350469627ABCA12c.3341G>C (p.Trp1114Ser)
c.2387G>C (p.Trp796Ser)
n.3641G>C
n.3839G>C
2g.214990985C>TCA350469628ABCA12c.3341G>A (p.Trp1114Ter)
c.2387G>A (p.Trp796Ter)
n.3641G>A
n.3839G>A
2g.214990986A>CCA350469630ABCA12c.3340T>G (p.Trp1114Gly)
c.2386T>G (p.Trp796Gly)
n.3640T>G
n.3838T>G
2g.214990986A>GCA350469632ABCA12c.3340T>C (p.Trp1114Arg)
c.2386T>C (p.Trp796Arg)
n.3640T>C
n.3838T>C
2g.214990986A>TCA350469634ABCA12c.3340T>A (p.Trp1114Arg)
c.2386T>A (p.Trp796Arg)
n.3640T>A
n.3838T>A
2g.214990987G>ACA431388396ABCA12c.3339C>T (p.Ala1113=)
c.2385C>T (p.Ala795=)
n.3639C>T
n.3837C>T
2g.214990987G>CCA431388397ABCA12c.3339C>G (p.Ala1113=)
c.2385C>G (p.Ala795=)
n.3639C>G
n.3837C>G
2g.214990987G>TCA431388398ABCA12c.3339C>A (p.Ala1113=)
c.2385C>A (p.Ala795=)
n.3639C>A
n.3837C>A
2g.214990988G>ACA350469636ABCA12c.3338C>T (p.Ala1113Val)
c.2384C>T (p.Ala795Val)
n.3638C>T
n.3836C>T
 gnomAD v4
2g.214990988G>CCA350469640ABCA12c.3338C>G (p.Ala1113Gly)
c.2384C>G (p.Ala795Gly)
n.3638C>G
n.3836C>G
2g.214990988G>TCA350469638ABCA12c.3338C>A (p.Ala1113Asp)
c.2384C>A (p.Ala795Asp)
n.3638C>A
n.3836C>A
2g.214990989C>ACA350469642ABCA12c.3337G>T (p.Ala1113Ser)
c.2383G>T (p.Ala795Ser)
n.3637G>T
n.3835G>T
2g.214990989C=CA1327165424ABCA12c.3337G= (p.Ala1113=)
c.2383G= (p.Ala795=)
n.3637G=
n.3835G=
2g.214990989C>GCA64827847ABCA12c.3337G>C (p.Ala1113Pro)
c.2383G>C (p.Ala795Pro)
n.3637G>C
n.3835G>C
 dbSNP
2g.214990989C>TCA350469644ABCA12c.3337G>A (p.Ala1113Thr)
c.2383G>A (p.Ala795Thr)
n.3637G>A
n.3835G>A
2g.214990990A>CCA350469646ABCA12c.3336T>G (p.Phe1112Leu)
c.2382T>G (p.Phe794Leu)
n.3636T>G
n.3834T>G
2g.214990990A>GCA431388400ABCA12c.3336T>C (p.Phe1112=)
c.2382T>C (p.Phe794=)
n.3636T>C
n.3834T>C
2g.214990990A>TCA350469648ABCA12c.3336T>A (p.Phe1112Leu)
c.2382T>A (p.Phe794Leu)
n.3636T>A
n.3834T>A
2g.214990991A>CCA350469649ABCA12c.3335T>G (p.Phe1112Cys)
c.2381T>G (p.Phe794Cys)
n.3635T>G
n.3833T>G
2g.214990991A>GCA350469651ABCA12c.3335T>C (p.Phe1112Ser)
c.2381T>C (p.Phe794Ser)
n.3635T>C
n.3833T>C
2g.214990991A>TCA350469652ABCA12c.3335T>A (p.Phe1112Tyr)
c.2381T>A (p.Phe794Tyr)
n.3635T>A
n.3833T>A
2g.214990992A>CCA350469654ABCA12c.3334T>G (p.Phe1112Val)
c.2380T>G (p.Phe794Val)
n.3634T>G
n.3832T>G
2g.214990992A>GCA350469656ABCA12c.3334T>C (p.Phe1112Leu)
c.2380T>C (p.Phe794Leu)
n.3634T>C
n.3832T>C
 gnomAD v4
2g.214990992A>TCA350469657ABCA12c.3334T>A (p.Phe1112Ile)
c.2380T>A (p.Phe794Ile)
n.3634T>A
n.3832T>A
2g.214990993G>ACA431388402ABCA12c.3333C>T (p.Phe1111=)
c.2379C>T (p.Phe793=)
n.3633C>T
n.3831C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.214990993G>CCA350469658ABCA12c.3333C>G (p.Phe1111Leu)
c.2379C>G (p.Phe793Leu)
n.3633C>G
n.3831C>G
2g.214990993G=CA1327165425ABCA12c.3333C= (p.Phe1111=)
c.2379C= (p.Phe793=)
n.3633C=
n.3831C=
2g.214990993G>TCA350469659ABCA12c.3333C>A (p.Phe1111Leu)
c.2379C>A (p.Phe793Leu)
n.3633C>A
n.3831C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990994A>CCA350469660ABCA12c.3332T>G (p.Phe1111Cys)
c.2378T>G (p.Phe793Cys)
n.3632T>G
n.3830T>G
2g.214990994A>GCA350469664ABCA12c.3332T>C (p.Phe1111Ser)
c.2378T>C (p.Phe793Ser)
n.3632T>C
n.3830T>C
2g.214990994A>TCA350469661ABCA12c.3332T>A (p.Phe1111Tyr)
c.2378T>A (p.Phe793Tyr)
n.3632T>A
n.3830T>A
2g.214990995A>CCA350469667ABCA12c.3331T>G (p.Phe1111Val)
c.2377T>G (p.Phe793Val)
n.3631T>G
n.3829T>G
2g.214990995A>GCA350469668ABCA12c.3331T>C (p.Phe1111Leu)
c.2377T>C (p.Phe793Leu)
n.3631T>C
n.3829T>C
2g.214990995A>TCA350469670ABCA12c.3331T>A (p.Phe1111Ile)
c.2377T>A (p.Phe793Ile)
n.3631T>A
n.3829T>A
2g.214990996A>CCA350469672ABCA12c.3330T>G (p.His1110Gln)
c.2376T>G (p.His792Gln)
n.3630T>G
n.3828T>G
2g.214990996A>GCA431388405ABCA12c.3330T>C (p.His1110=)
c.2376T>C (p.His792=)
n.3630T>C
n.3828T>C
2g.214990996A>TCA350469674ABCA12c.3330T>A (p.His1110Gln)
c.2376T>A (p.His792Gln)
n.3630T>A
n.3828T>A
2g.214990997T>ACA350469676ABCA12c.3329A>T (p.His1110Leu)
c.2375A>T (p.His792Leu)
n.3629A>T
n.3827A>T
2g.214990997T>CCA350469677ABCA12c.3329A>G (p.His1110Arg)
c.2375A>G (p.His792Arg)
n.3629A>G
n.3827A>G
2g.214990997T>GCA350469679ABCA12c.3329A>C (p.His1110Pro)
c.2375A>C (p.His792Pro)
n.3629A>C
n.3827A>C
2g.214990998G>ACA350469681ABCA12c.3328C>T (p.His1110Tyr)
c.2374C>T (p.His792Tyr)
n.3628C>T
n.3826C>T
2g.214990998G>CCA350469683ABCA12c.3328C>G (p.His1110Asp)
c.2374C>G (p.His792Asp)
n.3628C>G
n.3826C>G
2g.214990998G>TCA350469684ABCA12c.3328C>A (p.His1110Asn)
c.2374C>A (p.His792Asn)
n.3628C>A
n.3826C>A
2g.214990999G>ACA2091744ABCA12c.3327C>T (p.Ser1109=)
c.2373C>T (p.Ser791=)
n.3627C>T
n.3825C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990999G>CCA350469689ABCA12c.3327C>G (p.Ser1109Arg)
c.2373C>G (p.Ser791Arg)
n.3627C>G
n.3825C>G
2g.214990999G=CA1327165426ABCA12c.3327C= (p.Ser1109=)
c.2373C= (p.Ser791=)
n.3627C=
n.3825C=
2g.214990999G>TCA350469687ABCA12c.3327C>A (p.Ser1109Arg)
c.2373C>A (p.Ser791Arg)
n.3627C>A
n.3825C>A
 gnomAD v4
2g.214991000C>ACA350469691ABCA12c.3326G>T (p.Ser1109Ile)
c.2372G>T (p.Ser791Ile)
n.3626G>T
n.3824G>T
2g.214991000C>GCA350469696ABCA12c.3326G>C (p.Ser1109Thr)
c.2372G>C (p.Ser791Thr)
n.3626G>C
n.3824G>C
2g.214991000C>TCA350469693ABCA12c.3326G>A (p.Ser1109Asn)
c.2372G>A (p.Ser791Asn)
n.3626G>A
n.3824G>A
2g.214991001T>ACA350469698ABCA12c.3325A>T (p.Ser1109Cys)
c.2371A>T (p.Ser791Cys)
n.3625A>T
n.3823A>T
2g.214991001T>CCA350469700ABCA12c.3325A>G (p.Ser1109Gly)
c.2371A>G (p.Ser791Gly)
n.3625A>G
n.3823A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214991001T>GCA350469701ABCA12c.3325A>C (p.Ser1109Arg)
c.2371A>C (p.Ser791Arg)
n.3625A>C
n.3823A>C
2g.214991001T=CA1327165427ABCA12c.3325A= (p.Ser1109=)
c.2371A= (p.Ser791=)
n.3625A=
n.3823A=
2g.214991002G>ACA431388407ABCA12c.3324C>T (p.Cys1108=)
c.2370C>T (p.Cys790=)
n.3624C>T
n.3822C>T
2g.214991002G>CCA350469702ABCA12c.3324C>G (p.Cys1108Trp)
c.2370C>G (p.Cys790Trp)
n.3624C>G
n.3822C>G
2g.214991002G>TCA350469703ABCA12c.3324C>A (p.Cys1108Ter)
c.2370C>A (p.Cys790Ter)
n.3624C>A
n.3822C>A
2g.214991003C>ACA350469705ABCA12c.3323G>T (p.Cys1108Phe)
c.2369G>T (p.Cys790Phe)
n.3623G>T
n.3821G>T
 gnomAD v4
2g.214991003C>GCA350469706ABCA12c.3323G>C (p.Cys1108Ser)
c.2369G>C (p.Cys790Ser)
n.3623G>C
n.3821G>C
2g.214991003C>TCA350469708ABCA12c.3323G>A (p.Cys1108Tyr)
c.2369G>A (p.Cys790Tyr)
n.3623G>A
n.3821G>A
2g.214991004A=CA1327165428ABCA12c.3322T= (p.Cys1108=)
c.2368T= (p.Cys790=)
n.3622T=
n.3820T=
2g.214991004A>CCA350469710ABCA12c.3322T>G (p.Cys1108Gly)
c.2368T>G (p.Cys790Gly)
n.3622T>G
n.3820T>G
2g.214991004A>GCA350469712ABCA12c.3322T>C (p.Cys1108Arg)
c.2368T>C (p.Cys790Arg)
n.3622T>C
n.3820T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214991004A>TCA350469713ABCA12c.3322T>A (p.Cys1108Ser)
c.2368T>A (p.Cys790Ser)
n.3622T>A
n.3820T>A
2g.214991005G>ACA431388410ABCA12c.3321C>T (p.Ser1107=)
c.2367C>T (p.Ser789=)
n.3621C>T
n.3819C>T
2g.214991005G>CCA431388411ABCA12c.3321C>G (p.Ser1107=)
c.2367C>G (p.Ser789=)
n.3621C>G
n.3819C>G
2g.214991005G=CA1327165429ABCA12c.3321C= (p.Ser1107=)
c.2367C= (p.Ser789=)
n.3621C=
n.3819C=
2g.214991005G>TCA431388409ABCA12c.3321C>A (p.Ser1107=)
c.2367C>A (p.Ser789=)
n.3621C>A
n.3819C>A
2g.214991006G>ACA350469720ABCA12c.3320C>T (p.Ser1107Phe)
c.2366C>T (p.Ser789Phe)
n.3620C>T
n.3818C>T
 dbSNP gnomAD v2 gnomAD v4
2g.214991006G>CCA350469716ABCA12c.3320C>G (p.Ser1107Cys)
c.2366C>G (p.Ser789Cys)
n.3620C>G
n.3818C>G
2g.214991006G=CA1327165430ABCA12c.3320C= (p.Ser1107=)
c.2366C= (p.Ser789=)
n.3620C=
n.3818C=
2g.214991006G>TCA350469717ABCA12c.3320C>A (p.Ser1107Tyr)
c.2366C>A (p.Ser789Tyr)
n.3620C>A
n.3818C>A
2g.214991009_214991053dupCA2091745ABCA12c.3295-19_3320dup
c.2341-19_2366dup
n.3595-19_3620dup
n.3793-19_3818dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214991007A=CA1327165431ABCA12c.3319T= (p.Ser1107=)
c.2365T= (p.Ser789=)
n.3619T=
n.3817T=
2g.214991007A>CCA350469724ABCA12c.3319T>G (p.Ser1107Ala)
c.2365T>G (p.Ser789Ala)
n.3619T>G
n.3817T>G
 dbSNP
2g.214991007A>GCA350469725ABCA12c.3319T>C (p.Ser1107Pro)
c.2365T>C (p.Ser789Pro)
n.3619T>C
n.3817T>C
2g.214991007A>TCA350469728ABCA12c.3319T>A (p.Ser1107Thr)
c.2365T>A (p.Ser789Thr)
n.3619T>A
n.3817T>A
2g.214991008G>ACA431388412ABCA12c.3318C>T (p.Asn1106=)
c.2364C>T (p.Asn788=)
n.3618C>T
n.3816C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214991008G>CCA350469730ABCA12c.3318C>G (p.Asn1106Lys)
c.2364C>G (p.Asn788Lys)
n.3618C>G
n.3816C>G
2g.214991008G=CA1327165432ABCA12c.3318C= (p.Asn1106=)
c.2364C= (p.Asn788=)
n.3618C=
n.3816C=
2g.214991008G>TCA350469732ABCA12c.3318C>A (p.Asn1106Lys)
c.2364C>A (p.Asn788Lys)
n.3618C>A
n.3816C>A
2g.214991009T>ACA350469736ABCA12c.3317A>T (p.Asn1106Ile)
c.2363A>T (p.Asn788Ile)
n.3617A>T
n.3815A>T
2g.214991009T>CCA350469737ABCA12c.3317A>G (p.Asn1106Ser)
c.2363A>G (p.Asn788Ser)
n.3617A>G
n.3815A>G
2g.214991009T>GCA350469738ABCA12c.3317A>C (p.Asn1106Thr)
c.2363A>C (p.Asn788Thr)
n.3617A>C
n.3815A>C
 dbSNP
2g.214991009T=CA1327165433ABCA12c.3317A= (p.Asn1106=)
c.2363A= (p.Asn788=)
n.3617A=
n.3815A=
2g.214991010T>ACA350469741ABCA12c.3316A>T (p.Asn1106Tyr)
c.2362A>T (p.Asn788Tyr)
n.3616A>T
n.3814A>T
2g.214991010T>CCA350469742ABCA12c.3316A>G (p.Asn1106Asp)
c.2362A>G (p.Asn788Asp)
n.3616A>G
n.3814A>G
2g.214991010T>GCA350469744ABCA12c.3316A>C (p.Asn1106His)
c.2362A>C (p.Asn788His)
n.3616A>C
n.3814A>C
2g.214991010_214991011insACA431388413ABCA12c.3315_3316insT (p.Asn1106Ter)
c.2361_2362insT (p.Asn788Ter)
n.3615_3616insT
n.3813_3814insT
2g.214991011C>ACA431388414ABCA12c.3315G>T (p.Val1105=)
c.2361G>T (p.Val787=)
n.3615G>T
n.3813G>T
2g.214991011C=CA1327165434ABCA12c.3315G= (p.Val1105=)
c.2361G= (p.Val787=)
n.3615G=
n.3813G=
2g.214991011C>GCA431388415ABCA12c.3315G>C (p.Val1105=)
c.2361G>C (p.Val787=)
n.3615G>C
n.3813G>C
2g.214991011C>TCA431388416ABCA12c.3315G>A (p.Val1105=)
c.2361G>A (p.Val787=)
n.3615G>A
n.3813G>A
 dbSNP gnomAD v3 gnomAD v4
2g.214991012A>CCA350469756ABCA12c.3314T>G (p.Val1105Gly)
c.2360T>G (p.Val787Gly)
n.3614T>G
n.3812T>G
2g.214991012A>GCA350469754ABCA12c.3314T>C (p.Val1105Ala)
c.2360T>C (p.Val787Ala)
n.3614T>C
n.3812T>C
2g.214991012A>TCA350469752ABCA12c.3314T>A (p.Val1105Glu)
c.2360T>A (p.Val787Glu)
n.3614T>A
n.3812T>A
2g.214991013C>ACA350469759ABCA12c.3313G>T (p.Val1105Leu)
c.2359G>T (p.Val787Leu)
n.3613G>T
n.3811G>T
2g.214991013C=CA1327165435ABCA12c.3313G= (p.Val1105=)
c.2359G= (p.Val787=)
n.3613G=
n.3811G=
2g.214991013C>GCA350469757ABCA12c.3313G>C (p.Val1105Leu)
c.2359G>C (p.Val787Leu)
n.3613G>C
n.3811G>C
2g.214991013C>TCA350469758ABCA12c.3313G>A (p.Val1105Met)
c.2359G>A (p.Val787Met)
n.3613G>A
n.3811G>A
 dbSNP
2g.214991014A>CCA431388417ABCA12c.3312T>G (p.Gly1104=)
c.2358T>G (p.Gly786=)
n.3612T>G
n.3810T>G
2g.214991014A>GCA431388418ABCA12c.3312T>C (p.Gly1104=)
c.2358T>C (p.Gly786=)
n.3612T>C
n.3810T>C
2g.214991014A>TCA431388419ABCA12c.3312T>A (p.Gly1104=)
c.2358T>A (p.Gly786=)
n.3612T>A
n.3810T>A
2g.214991015C>ACA350469763ABCA12c.3311G>T (p.Gly1104Val)
c.2357G>T (p.Gly786Val)
n.3611G>T
n.3809G>T
 gnomAD v4
2g.214991015C>GCA350469765ABCA12c.3311G>C (p.Gly1104Ala)
c.2357G>C (p.Gly786Ala)
n.3611G>C
n.3809G>C
2g.214991015C>TCA350469770ABCA12c.3311G>A (p.Gly1104Asp)
c.2357G>A (p.Gly786Asp)
n.3611G>A
n.3809G>A
 gnomAD v4
2g.214991016C>ACA350469779ABCA12c.3310G>T (p.Gly1104Cys)
c.2356G>T (p.Gly786Cys)
n.3610G>T
n.3808G>T
2g.214991016C>GCA350469776ABCA12c.3310G>C (p.Gly1104Arg)
c.2356G>C (p.Gly786Arg)
n.3610G>C
n.3808G>C
2g.214991016C>TCA350469775ABCA12c.3310G>A (p.Gly1104Ser)
c.2356G>A (p.Gly786Ser)
n.3610G>A
n.3808G>A
2g.214991017C>ACA350469784ABCA12c.3309G>T (p.Met1103Ile)
c.2355G>T (p.Met785Ile)
n.3609G>T
n.3807G>T
2g.214991017C>GCA350469786ABCA12c.3309G>C (p.Met1103Ile)
c.2355G>C (p.Met785Ile)
n.3609G>C
n.3807G>C
2g.214991017C>TCA350469788ABCA12c.3309G>A (p.Met1103Ile)
c.2355G>A (p.Met785Ile)
n.3609G>A
n.3807G>A
2g.214991018A>CCA350469789ABCA12c.3308T>G (p.Met1103Arg)
c.2354T>G (p.Met785Arg)
n.3608T>G
n.3806T>G
2g.214991018A>GCA350469791ABCA12c.3308T>C (p.Met1103Thr)
c.2354T>C (p.Met785Thr)
n.3608T>C
n.3806T>C
 gnomAD v4
2g.214991018A>TCA350469792ABCA12c.3308T>A (p.Met1103Lys)
c.2354T>A (p.Met785Lys)
n.3608T>A
n.3806T>A
2g.214991019T>ACA350469796ABCA12c.3307A>T (p.Met1103Leu)
c.2353A>T (p.Met785Leu)
n.3607A>T
n.3805A>T
2g.214991019T>CCA350469806ABCA12c.3307A>G (p.Met1103Val)
c.2353A>G (p.Met785Val)
n.3607A>G
n.3805A>G
 COSMIC COSMIC
2g.214991019T>GCA350469799ABCA12c.3307A>C (p.Met1103Leu)
c.2353A>C (p.Met785Leu)
n.3607A>C
n.3805A>C
2g.214991020C>ACA350469809ABCA12c.3306G>T (p.Met1102Ile)
c.2352G>T (p.Met784Ile)
n.3606G>T
n.3804G>T
2g.214991020C=CA1327165436ABCA12c.3306G= (p.Met1102=)
c.2352G= (p.Met784=)
n.3606G=
n.3804G=
2g.214991020C>GCA350469810ABCA12c.3306G>C (p.Met1102Ile)
c.2352G>C (p.Met784Ile)
n.3606G>C
n.3804G>C
2g.214991020C>TCA64827880ABCA12c.3306G>A (p.Met1102Ile)
c.2352G>A (p.Met784Ile)
n.3606G>A
n.3804G>A
 dbSNP
2g.214991021A>CCA350469811ABCA12c.3305T>G (p.Met1102Arg)
c.2351T>G (p.Met784Arg)
n.3605T>G
n.3803T>G
2g.214991021A>GCA350469813ABCA12c.3305T>C (p.Met1102Thr)
c.2351T>C (p.Met784Thr)
n.3605T>C
n.3803T>C
2g.214991021A>TCA350469815ABCA12c.3305T>A (p.Met1102Lys)
c.2351T>A (p.Met784Lys)
n.3605T>A
n.3803T>A
2g.214991022T>ACA350469818ABCA12c.3304A>T (p.Met1102Leu)
c.2350A>T (p.Met784Leu)
n.3604A>T
n.3802A>T
2g.214991022T>CCA350469820ABCA12c.3304A>G (p.Met1102Val)
c.2350A>G (p.Met784Val)
n.3604A>G
n.3802A>G
2g.214991022T>GCA350469822ABCA12c.3304A>C (p.Met1102Leu)
c.2350A>C (p.Met784Leu)
n.3604A>C
n.3802A>C
2g.214991023C>ACA350469824ABCA12c.3303G>T (p.Lys1101Asn)
c.2349G>T (p.Lys783Asn)
n.3603G>T
n.3801G>T
2g.214991023C=CA1327165437ABCA12c.3303G= (p.Lys1101=)
c.2349G= (p.Lys783=)
n.3603G=
n.3801G=
2g.214991023C>GCA350469827ABCA12c.3303G>C (p.Lys1101Asn)
c.2349G>C (p.Lys783Asn)
n.3603G>C
n.3801G>C
2g.214991023C>TCA431388422ABCA12c.3303G>A (p.Lys1101=)
c.2349G>A (p.Lys783=)
n.3603G>A
n.3801G>A
 dbSNP
2g.214991024T>ACA350469833ABCA12c.3302A>T (p.Lys1101Met)
c.2348A>T (p.Lys783Met)
n.3602A>T
n.3800A>T
2g.214991024T>CCA350469835ABCA12c.3302A>G (p.Lys1101Arg)
c.2348A>G (p.Lys783Arg)
n.3602A>G
n.3800A>G
2g.214991024T>GCA350469831ABCA12c.3302A>C (p.Lys1101Thr)
c.2348A>C (p.Lys783Thr)
n.3602A>C
n.3800A>C
2g.214991025T>ACA350469839ABCA12c.3301A>T (p.Lys1101Ter)
c.2347A>T (p.Lys783Ter)
n.3601A>T
n.3799A>T
2g.214991025T>CCA350469844ABCA12c.3301A>G (p.Lys1101Glu)
c.2347A>G (p.Lys783Glu)
n.3601A>G
n.3799A>G
2g.214991025T>GCA350469841ABCA12c.3301A>C (p.Lys1101Gln)
c.2347A>C (p.Lys783Gln)
n.3601A>C
n.3799A>C
 gnomAD v4
2g.214991026C>ACA350469847ABCA12c.3300G>T (p.Met1100Ile)
c.2346G>T (p.Met782Ile)
n.3600G>T
n.3798G>T
2g.214991026C>GCA350469850ABCA12c.3300G>C (p.Met1100Ile)
c.2346G>C (p.Met782Ile)
n.3600G>C
n.3798G>C
2g.214991026C>TCA350469853ABCA12c.3300G>A (p.Met1100Ile)
c.2346G>A (p.Met782Ile)
n.3600G>A
n.3798G>A
2g.214991027A=CA1327165438ABCA12c.3299T= (p.Met1100=)
c.2345T= (p.Met782=)
n.3599T=
n.3797T=
2g.214991027A>CCA350469859ABCA12c.3299T>G (p.Met1100Arg)
c.2345T>G (p.Met782Arg)
n.3599T>G
n.3797T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.214991027A>GCA350469866ABCA12c.3299T>C (p.Met1100Thr)
c.2345T>C (p.Met782Thr)
n.3599T>C
n.3797T>C
2g.214991027A>TCA350469868ABCA12c.3299T>A (p.Met1100Lys)
c.2345T>A (p.Met782Lys)
n.3599T>A
n.3797T>A
2g.214991028T>ACA350469871ABCA12c.3298A>T (p.Met1100Leu)
c.2344A>T (p.Met782Leu)
n.3598A>T
n.3796A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214991028T>CCA350469873ABCA12c.3298A>G (p.Met1100Val)
c.2344A>G (p.Met782Val)
n.3598A>G
n.3796A>G
2g.214991028T>GCA350469874ABCA12c.3298A>C (p.Met1100Leu)
c.2344A>C (p.Met782Leu)
n.3598A>C
n.3796A>C
 gnomAD v4
2g.214991028T=CA1327165439ABCA12c.3298A= (p.Met1100=)
c.2344A= (p.Met782=)
n.3598A=
n.3796A=
2g.214991029G>ACA431388425ABCA12c.3297C>T (p.Tyr1099=)
c.2343C>T (p.Tyr781=)
n.3597C>T
n.3795C>T
2g.214991029G>CCA350469875ABCA12c.3297C>G (p.Tyr1099Ter)
c.2343C>G (p.Tyr781Ter)
n.3597C>G
n.3795C>G
2g.214991029G>TCA350469876ABCA12c.3297C>A (p.Tyr1099Ter)
c.2343C>A (p.Tyr781Ter)
n.3597C>A
n.3795C>A
2g.214991030T>ACA350469886ABCA12c.3296A>T (p.Tyr1099Phe)
c.2342A>T (p.Tyr781Phe)
n.3596A>T
n.3794A>T
2g.214991030T>CCA350469883ABCA12c.3296A>G (p.Tyr1099Cys)
c.2342A>G (p.Tyr781Cys)
n.3596A>G
n.3794A>G
2g.214991030T>GCA350469880ABCA12c.3296A>C (p.Tyr1099Ser)
c.2342A>C (p.Tyr781Ser)
n.3596A>C
n.3794A>C
2g.214991031A=CA1327165440ABCA12c.3295T= (p.Tyr1099=)
c.2341T= (p.Tyr781=)
n.3595T=
n.3793T=
2g.214991031A>CCA350469889ABCA12c.3295T>G (p.Tyr1099Asp)
c.2341T>G (p.Tyr781Asp)
n.3595T>G
n.3793T>G
2g.214991031A>GCA350469890ABCA12c.3295T>C (p.Tyr1099His)
c.2341T>C (p.Tyr781His)
n.3595T>C
n.3793T>C
 dbSNP
2g.214991031A>TCA350469891ABCA12c.3295T>A (p.Tyr1099Asn)
c.2341T>A (p.Tyr781Asn)
n.3595T>A
n.3793T>A
2g.214991032C>ACA350469892ABCA12c.3295-1G>T (n.3295-1G>T)
c.2341-1G>T (n.2341-1G>T)
n.3595-1G>T
n.3793-1G>T
2g.214991032C>GCA350469903ABCA12c.3295-1G>C (n.3295-1G>C)
c.2341-1G>C (n.2341-1G>C)
n.3595-1G>C
n.3793-1G>C
2g.214991032C>TCA350469904ABCA12c.3295-1G>A (n.3295-1G>A)
c.2341-1G>A (n.2341-1G>A)
n.3595-1G>A
n.3793-1G>A
 ClinVar gnomAD v4
2g.214991032_214991035delCA2662978897ABCA12c.3295-4_3295-1del (n.3295-4_3295-1del)
c.2341-4_2341-1del (n.2341-4_2341-1del)
n.3595-4_3595-1del
n.3793-4_3793-1del
 gnomAD v4
2g.214991033T>ACA350469905ABCA12c.3295-2A>T (n.3295-2A>T)
c.2341-2A>T (n.2341-2A>T)
n.3595-2A>T
n.3793-2A>T
2g.214991033T>CCA350469906ABCA12c.3295-2A>G (n.3295-2A>G)
c.2341-2A>G (n.2341-2A>G)
n.3595-2A>G
n.3793-2A>G
 dbSNP gnomAD v4
2g.214991033T>GCA350469907ABCA12c.3295-2A>C (n.3295-2A>C)
c.2341-2A>C (n.2341-2A>C)
n.3595-2A>C
n.3793-2A>C
2g.214991033T=CA1327165441ABCA12c.3295-2A= (n.3295-2A=)
c.2341-2A= (n.2341-2A=)
n.3595-2A=
n.3793-2A=
2g.214991034G>ACA2091746ABCA12c.3295-3C>T (n.3295-3C>T)
c.2341-3C>T (n.2341-3C>T)
n.3595-3C>T
n.3793-3C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214991034G>CCA2662978898ABCA12c.3295-3C>G (n.3295-3C>G)
c.2341-3C>G (n.2341-3C>G)
n.3595-3C>G
n.3793-3C>G
 gnomAD v4
2g.214991034G=CA1327165442ABCA12c.3295-3C= (n.3295-3C=)
c.2341-3C= (n.2341-3C=)
n.3595-3C=
n.3793-3C=
2g.214991035T>ACA2754209707ABCA12c.3295-4A>T (n.3295-4A>T)
c.2341-4A>T (n.2341-4A>T)
n.3595-4A>T
n.3793-4A>T
2g.214991035T>CCA1327165444ABCA12c.3295-4A>G (n.3295-4A>G)
c.2341-4A>G (n.2341-4A>G)
n.3595-4A>G
n.3793-4A>G
 ClinVar dbSNP
2g.214991035T=CA1327165443ABCA12c.3295-4A= (n.3295-4A=)
c.2341-4A= (n.2341-4A=)
n.3595-4A=
n.3793-4A=
2g.214991035dupCA2662978899ABCA12c.3295-4dup (n.3295-4dup)
c.2341-4dup (n.2341-4dup)
n.3595-4dup
n.3793-4dup
 gnomAD v4
2g.214991036A>GCA2577235175ABCA12c.3295-5T>C (n.3295-5T>C)
c.2341-5T>C (n.2341-5T>C)
n.3595-5T>C
n.3793-5T>C
2g.214991037delCA2662978900ABCA12c.3295-5del (n.3295-5del)
c.2341-5del (n.2341-5del)
n.3595-5del
n.3793-5del
 gnomAD v4
2g.214991038delCA2662978901ABCA12c.3295-7del (n.3295-7del)
c.2341-7del (n.2341-7del)
n.3595-7del
n.3793-7del
 gnomAD v4
2g.214991038G>ACA64827908ABCA12c.3295-7C>T (n.3295-7C>T)
c.2341-7C>T (n.2341-7C>T)
n.3595-7C>T
n.3793-7C>T
 dbSNP gnomAD v2 gnomAD v4
2g.214991038G>CCA2091747ABCA12c.3295-7C>G (n.3295-7C>G)
c.2341-7C>G (n.2341-7C>G)
n.3595-7C>G
n.3793-7C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214991038G=CA1327165445ABCA12c.3295-7C= (n.3295-7C=)
c.2341-7C= (n.2341-7C=)
n.3595-7C=
n.3793-7C=
2g.214991039A>CCA2662978902ABCA12c.3295-8T>G (n.3295-8T>G)
c.2341-8T>G (n.2341-8T>G)
n.3595-8T>G
n.3793-8T>G
 gnomAD v4
2g.214991041G>ACA2662978903ABCA12c.3295-10C>T (n.3295-10C>T)
c.2341-10C>T (n.2341-10C>T)
n.3595-10C>T
n.3793-10C>T
 gnomAD v4
2g.214991047delCA2662978904ABCA12c.3295-11del (n.3295-11del)
c.2341-11del (n.2341-11del)
n.3595-11del
n.3793-11del
 gnomAD v4
2g.214991045A>CCA2662978905ABCA12c.3295-14T>G (n.3295-14T>G)
c.2341-14T>G (n.2341-14T>G)
n.3595-14T>G
n.3793-14T>G
 gnomAD v4
2g.214991047A=CA1327165446ABCA12c.3295-16T= (n.3295-16T=)
c.2341-16T= (n.2341-16T=)
n.3595-16T=
n.3793-16T=
2g.214991047A>CCA2502944879ABCA12c.3295-16T>G (n.3295-16T>G)
c.2341-16T>G (n.2341-16T>G)
n.3595-16T>G
n.3793-16T>G
2g.214991047A>GCA539837437ABCA12c.3295-16T>C (n.3295-16T>C)
c.2341-16T>C (n.2341-16T>C)
n.3595-16T>C
n.3793-16T>C
 dbSNP gnomAD v2 gnomAD v4
2g.214991048T>ACA2091748ABCA12c.3295-17A>T (n.3295-17A>T)
c.2341-17A>T (n.2341-17A>T)
n.3595-17A>T
n.3793-17A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214991048T>CCA2091749ABCA12c.3295-17A>G (n.3295-17A>G)
c.2341-17A>G (n.2341-17A>G)
n.3595-17A>G
n.3793-17A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214991048T=CA1327165447ABCA12c.3295-17A= (n.3295-17A=)
c.2341-17A= (n.2341-17A=)
n.3595-17A=
n.3793-17A=
2g.214991049delCA2662978908ABCA12c.3295-18del (n.3295-18del)
c.2341-18del (n.2341-18del)
n.3595-18del
n.3793-18del
 dbSNP gnomAD v4
2g.214991049G>ACA2662978906ABCA12c.3295-18C>T (n.3295-18C>T)
c.2341-18C>T (n.2341-18C>T)
n.3595-18C>T
n.3793-18C>T
 gnomAD v4
2g.214991049G>CCA2754209708ABCA12c.3295-18C>G (n.3295-18C>G)
c.2341-18C>G (n.2341-18C>G)
n.3595-18C>G
n.3793-18C>G
2g.214991049G>TCA2662978907ABCA12c.3295-18C>A (n.3295-18C>A)
c.2341-18C>A (n.2341-18C>A)
n.3595-18C>A
n.3793-18C>A
 gnomAD v4
2g.214991052A>CCA2662978909ABCA12c.3295-21T>G (n.3295-21T>G)
c.2341-21T>G (n.2341-21T>G)
n.3595-21T>G
n.3793-21T>G
 gnomAD v4
2g.214991052A>TCA2662978910ABCA12c.3295-21T>A (n.3295-21T>A)
c.2341-21T>A (n.2341-21T>A)
n.3595-21T>A
n.3793-21T>A
 gnomAD v4
2g.214991053G>CCA764541766ABCA12c.3295-22C>G (n.3295-22C>G)
c.2341-22C>G (n.2341-22C>G)
n.3595-22C>G
n.3793-22C>G
 dbSNP
2g.214991053G=CA1327165448ABCA12c.3295-22C= (n.3295-22C=)
c.2341-22C= (n.2341-22C=)
n.3595-22C=
n.3793-22C=
2g.214991054G>ACA2091750ABCA12c.3295-23C>T (n.3295-23C>T)
c.2341-23C>T (n.2341-23C>T)
n.3595-23C>T
n.3793-23C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214991054G=CA1327165449ABCA12c.3295-23C= (n.3295-23C=)
c.2341-23C= (n.2341-23C=)
n.3595-23C=
n.3793-23C=
2g.214991054G>TCA2662978911ABCA12c.3295-23C>A (n.3295-23C>A)
c.2341-23C>A (n.2341-23C>A)
n.3595-23C>A
n.3793-23C>A
 gnomAD v4

Number of alleles fetched