| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99910716del | CA2646738700 | AGL | c.3705del (p.Phe1235LeufsTer3) n.3916del c.3657del (p.Phe1219LeufsTer3) c.3654del (p.Phe1218LeufsTer3) c.1965del (p.Phe655LeufsTer3) | gnomAD v4 |
| 1 | g.99910714T>A | CA341337166 | AGL | c.3703T>A (p.Phe1235Ile) n.3914T>A c.3655T>A (p.Phe1219Ile) c.3652T>A (p.Phe1218Ile) c.1963T>A (p.Phe655Ile) | |
| 1 | g.99910714T>C | CA341337168 | AGL | c.3703T>C (p.Phe1235Leu) n.3914T>C c.3655T>C (p.Phe1219Leu) c.3652T>C (p.Phe1218Leu) c.1963T>C (p.Phe655Leu) | |
| 1 | g.99910714T>G | CA341337164 | AGL | c.3703T>G (p.Phe1235Val) n.3914T>G c.3655T>G (p.Phe1219Val) c.3652T>G (p.Phe1218Val) c.1963T>G (p.Phe655Val) | |
| 1 | g.99910715T>A | CA341337172 | AGL | c.3704T>A (p.Phe1235Tyr) n.3915T>A c.3656T>A (p.Phe1219Tyr) c.3653T>A (p.Phe1218Tyr) c.1964T>A (p.Phe655Tyr) | |
| 1 | g.99910715T>C | CA341337178 | AGL | c.3704T>C (p.Phe1235Ser) n.3915T>C c.3656T>C (p.Phe1219Ser) c.3653T>C (p.Phe1218Ser) c.1964T>C (p.Phe655Ser) | |
| 1 | g.99910715T>G | CA341337182 | AGL | c.3704T>G (p.Phe1235Cys) n.3915T>G c.3656T>G (p.Phe1219Cys) c.3653T>G (p.Phe1218Cys) c.1964T>G (p.Phe655Cys) | |
| 1 | g.99910715T= | CA1183941619 | AGL | c.3704T= (p.Phe1235=) n.3915T= c.3656T= (p.Phe1219=) c.3653T= (p.Phe1218=) c.1964T= (p.Phe655=) | |
| 1 | g.99910715_99910716insG | CA1183941622 | AGL | c.3704_3705insG (p.Phe1235LeufsTer2) n.3915_3916insG c.3656_3657insG (p.Phe1219LeufsTer2) c.3653_3654insG (p.Phe1218LeufsTer2) c.1964_1965insG (p.Phe655LeufsTer2) | dbSNP |
| 1 | g.99910716T>A | CA341337199 | AGL | c.3705T>A (p.Phe1235Leu) n.3916T>A c.3657T>A (p.Phe1219Leu) c.3654T>A (p.Phe1218Leu) c.1965T>A (p.Phe655Leu) | |
| 1 | g.99910716T>C | CA967197 | AGL | c.3705T>C (p.Phe1235=) n.3916T>C c.3657T>C (p.Phe1219=) c.3654T>C (p.Phe1218=) c.1965T>C (p.Phe655=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910716T>G | CA341337203 | AGL | c.3705T>G (p.Phe1235Leu) n.3916T>G c.3657T>G (p.Phe1219Leu) c.3654T>G (p.Phe1218Leu) c.1965T>G (p.Phe655Leu) | |
| 1 | g.99910716T= | CA1183941620 | AGL | c.3705T= (p.Phe1235=) n.3916T= c.3657T= (p.Phe1219=) c.3654T= (p.Phe1218=) c.1965T= (p.Phe655=) | |
| 1 | g.99910717A= | CA1183941623 | AGL | c.3706A= (p.Asn1236=) n.3917A= c.3658A= (p.Asn1220=) c.3655A= (p.Asn1219=) c.1966A= (p.Asn656=) | |
| 1 | g.99910717A>C | CA341337207 | AGL | c.3706A>C (p.Asn1236His) n.3917A>C c.3658A>C (p.Asn1220His) c.3655A>C (p.Asn1219His) c.1966A>C (p.Asn656His) | ClinVar dbSNP |
| 1 | g.99910717A>G | CA341337211 | AGL | c.3706A>G (p.Asn1236Asp) n.3917A>G c.3658A>G (p.Asn1220Asp) c.3655A>G (p.Asn1219Asp) c.1966A>G (p.Asn656Asp) | gnomAD v4 |
| 1 | g.99910717A>T | CA341337214 | AGL | c.3706A>T (p.Asn1236Tyr) n.3917A>T c.3658A>T (p.Asn1220Tyr) c.3655A>T (p.Asn1219Tyr) c.1966A>T (p.Asn656Tyr) | |
| 1 | g.99910718A>C | CA341337220 | AGL | c.3707A>C (p.Asn1236Thr) n.3918A>C c.3659A>C (p.Asn1220Thr) c.3656A>C (p.Asn1219Thr) c.1967A>C (p.Asn656Thr) | |
| 1 | g.99910718A>G | CA341337224 | AGL | c.3707A>G (p.Asn1236Ser) n.3918A>G c.3659A>G (p.Asn1220Ser) c.3656A>G (p.Asn1219Ser) c.1967A>G (p.Asn656Ser) | |
| 1 | g.99910718A>T | CA341337232 | AGL | c.3707A>T (p.Asn1236Ile) n.3918A>T c.3659A>T (p.Asn1220Ile) c.3656A>T (p.Asn1219Ile) c.1967A>T (p.Asn656Ile) | |
| 1 | g.99910721_99910722del | CA2586967095 | AGL | c.3710_3711del (p.Ile1237AsnfsTer5) n.3921_3922del c.3662_3663del (p.Ile1221AsnfsTer5) c.3659_3660del (p.Ile1220AsnfsTer5) c.1970_1971del (p.Ile657AsnfsTer5) | |
| 1 | g.99910718_99910725dup | CA967198 | AGL | c.3707_3714dup (p.Ala1239IlefsTer2) n.3918_3925dup c.3659_3666dup (p.Ala1223IlefsTer2) c.3656_3663dup (p.Ala1222IlefsTer2) c.1967_1974dup (p.Ala659IlefsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910719T>A | CA341337241 | AGL | c.3708T>A (p.Asn1236Lys) n.3919T>A c.3660T>A (p.Asn1220Lys) c.3657T>A (p.Asn1219Lys) c.1968T>A (p.Asn656Lys) | |
| 1 | g.99910719T>C | CA419090977 | AGL | c.3708T>C (p.Asn1236=) n.3919T>C c.3660T>C (p.Asn1220=) c.3657T>C (p.Asn1219=) c.1968T>C (p.Asn656=) | gnomAD v4 |
| 1 | g.99910719T>G | CA341337238 | AGL | c.3708T>G (p.Asn1236Lys) n.3919T>G c.3660T>G (p.Asn1220Lys) c.3657T>G (p.Asn1219Lys) c.1968T>G (p.Asn656Lys) | |
| 1 | g.99910720A= | CA1183941626 | AGL | c.3709A= (p.Ile1237=) n.3920A= c.3661A= (p.Ile1221=) c.3658A= (p.Ile1220=) c.1969A= (p.Ile657=) | |
| 1 | g.99910720A>C | CA341337245 | AGL | c.3709A>C (p.Ile1237Leu) n.3920A>C c.3661A>C (p.Ile1221Leu) c.3658A>C (p.Ile1220Leu) c.1969A>C (p.Ile657Leu) | |
| 1 | g.99910720A>G | CA341337253 | AGL | c.3709A>G (p.Ile1237Val) n.3920A>G c.3661A>G (p.Ile1221Val) c.3658A>G (p.Ile1220Val) c.1969A>G (p.Ile657Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910720A>T | CA341337260 | AGL | c.3709A>T (p.Ile1237Leu) n.3920A>T c.3661A>T (p.Ile1221Leu) c.3658A>T (p.Ile1220Leu) c.1969A>T (p.Ile657Leu) | |
| 1 | g.99910721T>A | CA341337263 | AGL | c.3710T>A (p.Ile1237Lys) n.3921T>A c.3662T>A (p.Ile1221Lys) c.3659T>A (p.Ile1220Lys) c.1970T>A (p.Ile657Lys) | |
| 1 | g.99910721T>C | CA341337275 | AGL | c.3710T>C (p.Ile1237Thr) n.3921T>C c.3662T>C (p.Ile1221Thr) c.3659T>C (p.Ile1220Thr) c.1970T>C (p.Ile657Thr) | |
| 1 | g.99910721T>G | CA341337278 | AGL | c.3710T>G (p.Ile1237Arg) n.3921T>G c.3662T>G (p.Ile1221Arg) c.3659T>G (p.Ile1220Arg) c.1970T>G (p.Ile657Arg) | |
| 1 | g.99910722A>C | CA419090991 | AGL | c.3711A>C (p.Ile1237=) n.3922A>C c.3663A>C (p.Ile1221=) c.3660A>C (p.Ile1220=) c.1971A>C (p.Ile657=) | |
| 1 | g.99910722A>G | CA341337283 | AGL | c.3711A>G (p.Ile1237Met) n.3922A>G c.3663A>G (p.Ile1221Met) c.3660A>G (p.Ile1220Met) c.1971A>G (p.Ile657Met) | |
| 1 | g.99910722A>T | CA419090994 | AGL | c.3711A>T (p.Ile1237=) n.3922A>T c.3663A>T (p.Ile1221=) c.3660A>T (p.Ile1220=) c.1971A>T (p.Ile657=) | |
| 1 | g.99910723A= | CA1183941628 | AGL | c.3712A= (p.Thr1238=) n.3923A= c.3664A= (p.Thr1222=) c.3661A= (p.Thr1221=) c.1972A= (p.Thr658=) | |
| 1 | g.99910723A>C | CA341337289 | AGL | c.3712A>C (p.Thr1238Pro) n.3923A>C c.3664A>C (p.Thr1222Pro) c.3661A>C (p.Thr1221Pro) c.1972A>C (p.Thr658Pro) | |
| 1 | g.99910723A>G | CA341337292 | AGL | c.3712A>G (p.Thr1238Ala) n.3923A>G c.3664A>G (p.Thr1222Ala) c.3661A>G (p.Thr1221Ala) c.1972A>G (p.Thr658Ala) | dbSNP |
| 1 | g.99910723A>T | CA341337295 | AGL | c.3712A>T (p.Thr1238Ser) n.3923A>T c.3664A>T (p.Thr1222Ser) c.3661A>T (p.Thr1221Ser) c.1972A>T (p.Thr658Ser) | |
| 1 | g.99910724C>A | CA341337300 | AGL | c.3713C>A (p.Thr1238Asn) n.3924C>A c.3665C>A (p.Thr1222Asn) c.3662C>A (p.Thr1221Asn) c.1973C>A (p.Thr658Asn) | gnomAD v4 |
| 1 | g.99910724C>G | CA341337303 | AGL | c.3713C>G (p.Thr1238Ser) n.3924C>G c.3665C>G (p.Thr1222Ser) c.3662C>G (p.Thr1221Ser) c.1973C>G (p.Thr658Ser) | |
| 1 | g.99910724C>T | CA341337305 | AGL | c.3713C>T (p.Thr1238Ile) n.3924C>T c.3665C>T (p.Thr1222Ile) c.3662C>T (p.Thr1221Ile) c.1973C>T (p.Thr658Ile) | |
| 1 | g.99910725T>A | CA419091005 | AGL | c.3714T>A (p.Thr1238=) n.3925T>A c.3666T>A (p.Thr1222=) c.3663T>A (p.Thr1221=) c.1974T>A (p.Thr658=) | |
| 1 | g.99910725T>C | CA419091007 | AGL | c.3714T>C (p.Thr1238=) n.3925T>C c.3666T>C (p.Thr1222=) c.3663T>C (p.Thr1221=) c.1974T>C (p.Thr658=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910725T>G | CA419091008 | AGL | c.3714T>G (p.Thr1238=) n.3925T>G c.3666T>G (p.Thr1222=) c.3663T>G (p.Thr1221=) c.1974T>G (p.Thr658=) | |
| 1 | g.99910725T= | CA1183941629 | AGL | c.3714T= (p.Thr1238=) n.3925T= c.3666T= (p.Thr1222=) c.3663T= (p.Thr1221=) c.1974T= (p.Thr658=) | |
| 1 | g.99910726G>A | CA341337315 | AGL | c.3715G>A (p.Ala1239Thr) n.3926G>A c.3667G>A (p.Ala1223Thr) c.3664G>A (p.Ala1222Thr) c.1975G>A (p.Ala659Thr) | gnomAD v4 |
| 1 | g.99910726G>C | CA341337312 | AGL | c.3715G>C (p.Ala1239Pro) n.3926G>C c.3667G>C (p.Ala1223Pro) c.3664G>C (p.Ala1222Pro) c.1975G>C (p.Ala659Pro) | |
| 1 | g.99910726G>T | CA341337310 | AGL | c.3715G>T (p.Ala1239Ser) n.3926G>T c.3667G>T (p.Ala1223Ser) c.3664G>T (p.Ala1222Ser) c.1975G>T (p.Ala659Ser) | |
| 1 | g.99910727C>A | CA341337318 | AGL | c.3716C>A (p.Ala1239Glu) n.3927C>A c.3668C>A (p.Ala1223Glu) c.3665C>A (p.Ala1222Glu) c.1976C>A (p.Ala659Glu) | |
| 1 | g.99910727C= | CA1183941631 | AGL | c.3716C= (p.Ala1239=) n.3927C= c.3668C= (p.Ala1223=) c.3665C= (p.Ala1222=) c.1976C= (p.Ala659=) | |
| 1 | g.99910727C>G | CA341337324 | AGL | c.3716C>G (p.Ala1239Gly) n.3927C>G c.3668C>G (p.Ala1223Gly) c.3665C>G (p.Ala1222Gly) c.1976C>G (p.Ala659Gly) | |
| 1 | g.99910727C>T | CA341337321 | AGL | c.3716C>T (p.Ala1239Val) n.3927C>T c.3668C>T (p.Ala1223Val) c.3665C>T (p.Ala1222Val) c.1976C>T (p.Ala659Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99910728A>C | CA419091019 | AGL | c.3717A>C (p.Ala1239=) n.3928A>C c.3669A>C (p.Ala1223=) c.3666A>C (p.Ala1222=) c.1977A>C (p.Ala659=) | |
| 1 | g.99910728A>G | CA419091022 | AGL | c.3717A>G (p.Ala1239=) n.3928A>G c.3669A>G (p.Ala1223=) c.3666A>G (p.Ala1222=) c.1977A>G (p.Ala659=) | gnomAD v4 |
| 1 | g.99910728A>T | CA419091024 | AGL | c.3717A>T (p.Ala1239=) n.3928A>T c.3669A>T (p.Ala1223=) c.3666A>T (p.Ala1222=) c.1977A>T (p.Ala659=) | |
| 1 | g.99910729G>A | CA341337325 | AGL | c.3718G>A (p.Gly1240Arg) n.3929G>A c.3670G>A (p.Gly1224Arg) c.3667G>A (p.Gly1223Arg) c.1978G>A (p.Gly660Arg) | gnomAD v4 |
| 1 | g.99910729G>C | CA341337327 | AGL | c.3718G>C (p.Gly1240Arg) n.3929G>C c.3670G>C (p.Gly1224Arg) c.3667G>C (p.Gly1223Arg) c.1978G>C (p.Gly660Arg) | |
| 1 | g.99910729G= | CA1183941634 | AGL | c.3718G= (p.Gly1240=) n.3929G= c.3670G= (p.Gly1224=) c.3667G= (p.Gly1223=) c.1978G= (p.Gly660=) | |
| 1 | g.99910729G>T | CA341337326 | AGL | c.3718G>T (p.Gly1240Ter) n.3929G>T c.3670G>T (p.Gly1224Ter) c.3667G>T (p.Gly1223Ter) c.1978G>T (p.Gly660Ter) | ClinVar dbSNP |
| 1 | g.99910730G>A | CA341337328 | AGL | c.3719G>A (p.Gly1240Glu) n.3930G>A c.3671G>A (p.Gly1224Glu) c.3668G>A (p.Gly1223Glu) c.1979G>A (p.Gly660Glu) | |
| 1 | g.99910730G>C | CA341337332 | AGL | c.3719G>C (p.Gly1240Ala) n.3930G>C c.3671G>C (p.Gly1224Ala) c.3668G>C (p.Gly1223Ala) c.1979G>C (p.Gly660Ala) | |
| 1 | g.99910730G= | CA1183941636 | AGL | c.3719G= (p.Gly1240=) n.3930G= c.3671G= (p.Gly1224=) c.3668G= (p.Gly1223=) c.1979G= (p.Gly660=) | |
| 1 | g.99910730G>T | CA341337330 | AGL | c.3719G>T (p.Gly1240Val) n.3930G>T c.3671G>T (p.Gly1224Val) c.3668G>T (p.Gly1223Val) c.1979G>T (p.Gly660Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910731A>C | CA419091036 | AGL | c.3720A>C (p.Gly1240=) n.3931A>C c.3672A>C (p.Gly1224=) c.3669A>C (p.Gly1223=) c.1980A>C (p.Gly660=) | |
| 1 | g.99910731A>G | CA419091040 | AGL | c.3720A>G (p.Gly1240=) n.3931A>G c.3672A>G (p.Gly1224=) c.3669A>G (p.Gly1223=) c.1980A>G (p.Gly660=) | |
| 1 | g.99910731A>T | CA419091038 | AGL | c.3720A>T (p.Gly1240=) n.3931A>T c.3672A>T (p.Gly1224=) c.3669A>T (p.Gly1223=) c.1980A>T (p.Gly660=) | |
| 1 | g.99910732G>A | CA341337335 | AGL | c.3721G>A (p.Val1241Ile) n.3932G>A c.3673G>A (p.Val1225Ile) c.3670G>A (p.Val1224Ile) c.1981G>A (p.Val661Ile) | |
| 1 | g.99910732G>C | CA341337337 | AGL | c.3721G>C (p.Val1241Leu) n.3932G>C c.3673G>C (p.Val1225Leu) c.3670G>C (p.Val1224Leu) c.1981G>C (p.Val661Leu) | |
| 1 | g.99910732G>T | CA341337340 | AGL | c.3721G>T (p.Val1241Phe) n.3932G>T c.3673G>T (p.Val1225Phe) c.3670G>T (p.Val1224Phe) c.1981G>T (p.Val661Phe) | |
| 1 | g.99910733T>A | CA341337343 | AGL | c.3722T>A (p.Val1241Asp) n.3933T>A c.3674T>A (p.Val1225Asp) c.3671T>A (p.Val1224Asp) c.1982T>A (p.Val661Asp) | |
| 1 | g.99910733T>C | CA341337345 | AGL | c.3722T>C (p.Val1241Ala) n.3933T>C c.3674T>C (p.Val1225Ala) c.3671T>C (p.Val1224Ala) c.1982T>C (p.Val661Ala) | |
| 1 | g.99910733T>G | CA341337347 | AGL | c.3722T>G (p.Val1241Gly) n.3933T>G c.3674T>G (p.Val1225Gly) c.3671T>G (p.Val1224Gly) c.1982T>G (p.Val661Gly) | |
| 1 | g.99910733_99910736delinsTTGA | CA1183941638 | AGL | c.3722_3725delinsTTGA (p.Val1241=) n.3933_3936delinsTTGA c.3674_3677delinsTTGA (p.Val1225=) c.3671_3674delinsTTGA (p.Val1224=) c.1982_1985delinsTTGA (p.Val661=) | |
| 1 | g.99910734T>A | CA419091055 | AGL | c.3723T>A (p.Val1241=) n.3934T>A c.3675T>A (p.Val1225=) c.3672T>A (p.Val1224=) c.1983T>A (p.Val661=) | |
| 1 | g.99910734T>C | CA419091057 | AGL | c.3723T>C (p.Val1241=) n.3934T>C c.3675T>C (p.Val1225=) c.3672T>C (p.Val1224=) c.1983T>C (p.Val661=) | |
| 1 | g.99910734T>G | CA419091059 | AGL | c.3723T>G (p.Val1241=) n.3934T>G c.3675T>G (p.Val1225=) c.3672T>G (p.Val1224=) c.1983T>G (p.Val661=) | |
| 1 | g.99910737_99910739del | CA967199 | AGL | c.3726_3728del (p.Asp1242del) n.3937_3939del c.3678_3680del (p.Asp1226del) c.3675_3677del (p.Asp1225del) c.1986_1988del (p.Asp662del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910735G>A | CA967200 | AGL | c.3724G>A (p.Asp1242Asn) n.3935G>A c.3676G>A (p.Asp1226Asn) c.3673G>A (p.Asp1225Asn) c.1984G>A (p.Asp662Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910735G>C | CA341337360 | AGL | c.3724G>C (p.Asp1242His) n.3935G>C c.3676G>C (p.Asp1226His) c.3673G>C (p.Asp1225His) c.1984G>C (p.Asp662His) | |
| 1 | g.99910735G= | CA1183941641 | AGL | c.3724G= (p.Asp1242=) n.3935G= c.3676G= (p.Asp1226=) c.3673G= (p.Asp1225=) c.1984G= (p.Asp662=) | |
| 1 | g.99910735G>T | CA341337370 | AGL | c.3724G>T (p.Asp1242Tyr) n.3935G>T c.3676G>T (p.Asp1226Tyr) c.3673G>T (p.Asp1225Tyr) c.1984G>T (p.Asp662Tyr) | |
| 1 | g.99910736A>C | CA341337392 | AGL | c.3725A>C (p.Asp1242Ala) n.3936A>C c.3677A>C (p.Asp1226Ala) c.3674A>C (p.Asp1225Ala) c.1985A>C (p.Asp662Ala) | |
| 1 | g.99910736A>G | CA341337381 | AGL | c.3725A>G (p.Asp1242Gly) n.3936A>G c.3677A>G (p.Asp1226Gly) c.3674A>G (p.Asp1225Gly) c.1985A>G (p.Asp662Gly) | |
| 1 | g.99910736A>T | CA341337379 | AGL | c.3725A>T (p.Asp1242Val) n.3936A>T c.3677A>T (p.Asp1226Val) c.3674A>T (p.Asp1225Val) c.1985A>T (p.Asp662Val) | gnomAD v4 |
| 1 | g.99910737T>A | CA341337397 | AGL | c.3726T>A (p.Asp1242Glu) n.3937T>A c.3678T>A (p.Asp1226Glu) c.3675T>A (p.Asp1225Glu) c.1986T>A (p.Asp662Glu) | |
| 1 | g.99910737T>C | CA967201 | AGL | c.3726T>C (p.Asp1242=) n.3937T>C c.3678T>C (p.Asp1226=) c.3675T>C (p.Asp1225=) c.1986T>C (p.Asp662=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910737T>G | CA341337404 | AGL | c.3726T>G (p.Asp1242Glu) n.3937T>G c.3678T>G (p.Asp1226Glu) c.3675T>G (p.Asp1225Glu) c.1986T>G (p.Asp662Glu) | |
| 1 | g.99910737T= | CA1183941642 | AGL | c.3726T= (p.Asp1242=) n.3937T= c.3678T= (p.Asp1226=) c.3675T= (p.Asp1225=) c.1986T= (p.Asp662=) | |
| 1 | g.99910738G>A | CA967202 | AGL | c.3727G>A (p.Glu1243Lys) n.3938G>A c.3679G>A (p.Glu1227Lys) c.3676G>A (p.Glu1226Lys) c.1987G>A (p.Glu663Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910738G>C | CA341337409 | AGL | c.3727G>C (p.Glu1243Gln) n.3938G>C c.3679G>C (p.Glu1227Gln) c.3676G>C (p.Glu1226Gln) c.1987G>C (p.Glu663Gln) | |
| 1 | g.99910738G= | CA1183941643 | AGL | c.3727G= (p.Glu1243=) n.3938G= c.3679G= (p.Glu1227=) c.3676G= (p.Glu1226=) c.1987G= (p.Glu663=) | |
| 1 | g.99910738G>T | CA341337411 | AGL | c.3727G>T (p.Glu1243Ter) n.3938G>T c.3679G>T (p.Glu1227Ter) c.3676G>T (p.Glu1226Ter) c.1987G>T (p.Glu663Ter) | |
| 1 | g.99910739A>C | CA341337414 | AGL | c.3728A>C (p.Glu1243Ala) n.3939A>C c.3680A>C (p.Glu1227Ala) c.3677A>C (p.Glu1226Ala) c.1988A>C (p.Glu663Ala) | |
| 1 | g.99910739A>G | CA341337416 | AGL | c.3728A>G (p.Glu1243Gly) n.3939A>G c.3680A>G (p.Glu1227Gly) c.3677A>G (p.Glu1226Gly) c.1988A>G (p.Glu663Gly) | |
| 1 | g.99910739A>T | CA341337420 | AGL | c.3728A>T (p.Glu1243Val) n.3939A>T c.3680A>T (p.Glu1227Val) c.3677A>T (p.Glu1226Val) c.1988A>T (p.Glu663Val) | |
| 1 | g.99910740A>C | CA341337423 | AGL | c.3729A>C (p.Glu1243Asp) n.3940A>C c.3681A>C (p.Glu1227Asp) c.3678A>C (p.Glu1226Asp) c.1989A>C (p.Glu663Asp) | |
| 1 | g.99910740A>G | CA419091089 | AGL | c.3729A>G (p.Glu1243=) n.3940A>G c.3681A>G (p.Glu1227=) c.3678A>G (p.Glu1226=) c.1989A>G (p.Glu663=) | |
| 1 | g.99910740A>T | CA341337426 | AGL | c.3729A>T (p.Glu1243Asp) n.3940A>T c.3681A>T (p.Glu1227Asp) c.3678A>T (p.Glu1226Asp) c.1989A>T (p.Glu663Asp) | |
| 1 | g.99910741G>A | CA967203 | AGL | c.3730G>A (p.Glu1244Lys) n.3941G>A c.3682G>A (p.Glu1228Lys) c.3679G>A (p.Glu1227Lys) c.1990G>A (p.Glu664Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910741G>C | CA341337432 | AGL | c.3730G>C (p.Glu1244Gln) n.3941G>C c.3682G>C (p.Glu1228Gln) c.3679G>C (p.Glu1227Gln) c.1990G>C (p.Glu664Gln) | |
| 1 | g.99910741G= | CA1183941644 | AGL | c.3730G= (p.Glu1244=) n.3941G= c.3682G= (p.Glu1228=) c.3679G= (p.Glu1227=) c.1990G= (p.Glu664=) | |
| 1 | g.99910741G>T | CA341337430 | AGL | c.3730G>T (p.Glu1244Ter) n.3941G>T c.3682G>T (p.Glu1228Ter) c.3679G>T (p.Glu1227Ter) c.1990G>T (p.Glu664Ter) | |
| 1 | g.99910742A>C | CA341337439 | AGL | c.3731A>C (p.Glu1244Ala) n.3942A>C c.3683A>C (p.Glu1228Ala) c.3680A>C (p.Glu1227Ala) c.1991A>C (p.Glu664Ala) | |
| 1 | g.99910742A>G | CA341337441 | AGL | c.3731A>G (p.Glu1244Gly) n.3942A>G c.3683A>G (p.Glu1228Gly) c.3680A>G (p.Glu1227Gly) c.1991A>G (p.Glu664Gly) | |
| 1 | g.99910742A>T | CA341337443 | AGL | c.3731A>T (p.Glu1244Val) n.3942A>T c.3683A>T (p.Glu1228Val) c.3680A>T (p.Glu1227Val) c.1991A>T (p.Glu664Val) | |
| 1 | g.99910744del | CA2695198082 | AGL | c.3733del (p.Thr1245GlnfsTer?) n.3944del c.3685del (p.Thr1229GlnfsTer?) c.3682del (p.Thr1228GlnfsTer?) c.1993del (p.Thr665GlnfsTer?) | ClinVar |
| 1 | g.99910743A>C | CA341337448 | AGL | c.3732A>C (p.Glu1244Asp) n.3943A>C c.3684A>C (p.Glu1228Asp) c.3681A>C (p.Glu1227Asp) c.1992A>C (p.Glu664Asp) | |
| 1 | g.99910743A>G | CA419091111 | AGL | c.3732A>G (p.Glu1244=) n.3943A>G c.3684A>G (p.Glu1228=) c.3681A>G (p.Glu1227=) c.1992A>G (p.Glu664=) | ClinVar |
| 1 | g.99910743A>T | CA341337451 | AGL | c.3732A>T (p.Glu1244Asp) n.3943A>T c.3684A>T (p.Glu1228Asp) c.3681A>T (p.Glu1227Asp) c.1992A>T (p.Glu664Asp) | |
| 1 | g.99910744A= | CA1183941645 | AGL | c.3733A= (p.Thr1245=) n.3944A= c.3685A= (p.Thr1229=) c.3682A= (p.Thr1228=) c.1993A= (p.Thr665=) | |
| 1 | g.99910744A>C | CA341337454 | AGL | c.3733A>C (p.Thr1245Pro) n.3944A>C c.3685A>C (p.Thr1229Pro) c.3682A>C (p.Thr1228Pro) c.1993A>C (p.Thr665Pro) | |
| 1 | g.99910744A>G | CA967204 | AGL | c.3733A>G (p.Thr1245Ala) n.3944A>G c.3685A>G (p.Thr1229Ala) c.3682A>G (p.Thr1228Ala) c.1993A>G (p.Thr665Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910744A>T | CA341337464 | AGL | c.3733A>T (p.Thr1245Ser) n.3944A>T c.3685A>T (p.Thr1229Ser) c.3682A>T (p.Thr1228Ser) c.1993A>T (p.Thr665Ser) | |
| 1 | g.99910745C>A | CA341337471 | AGL | c.3734C>A (p.Thr1245Lys) n.3945C>A c.3686C>A (p.Thr1229Lys) c.3683C>A (p.Thr1228Lys) c.1994C>A (p.Thr665Lys) | |
| 1 | g.99910745C= | CA1183941647 | AGL | c.3734C= (p.Thr1245=) n.3945C= c.3686C= (p.Thr1229=) c.3683C= (p.Thr1228=) c.1994C= (p.Thr665=) | |
| 1 | g.99910745C>G | CA341337474 | AGL | c.3734C>G (p.Thr1245Arg) n.3945C>G c.3686C>G (p.Thr1229Arg) c.3683C>G (p.Thr1228Arg) c.1994C>G (p.Thr665Arg) | dbSNP |
| 1 | g.99910745C>T | CA341337476 | AGL | c.3734C>T (p.Thr1245Ile) n.3945C>T c.3686C>T (p.Thr1229Ile) c.3683C>T (p.Thr1228Ile) c.1994C>T (p.Thr665Ile) | dbSNP gnomAD v4 |
| 1 | g.99910746A>C | CA419091128 | AGL | c.3735A>C (p.Thr1245=) n.3946A>C c.3687A>C (p.Thr1229=) c.3684A>C (p.Thr1228=) c.1995A>C (p.Thr665=) | |
| 1 | g.99910746A>G | CA419091125 | AGL | c.3735A>G (p.Thr1245=) n.3946A>G c.3687A>G (p.Thr1229=) c.3684A>G (p.Thr1228=) c.1995A>G (p.Thr665=) | |
| 1 | g.99910746A>T | CA419091126 | AGL | c.3735A>T (p.Thr1245=) n.3946A>T c.3687A>T (p.Thr1229=) c.3684A>T (p.Thr1228=) c.1995A>T (p.Thr665=) | gnomAD v4 |
| 1 | g.99910747G>A | CA341337489 | AGL | c.3736G>A (p.Gly1246Arg) n.3947G>A c.3688G>A (p.Gly1230Arg) c.3685G>A (p.Gly1229Arg) c.1996G>A (p.Gly666Arg) | |
| 1 | g.99910747G>C | CA341337482 | AGL | c.3736G>C (p.Gly1246Arg) n.3947G>C c.3688G>C (p.Gly1230Arg) c.3685G>C (p.Gly1229Arg) c.1996G>C (p.Gly666Arg) | |
| 1 | g.99910747G>T | CA341337479 | AGL | c.3736G>T (p.Gly1246Ter) n.3947G>T c.3688G>T (p.Gly1230Ter) c.3685G>T (p.Gly1229Ter) c.1996G>T (p.Gly666Ter) | |
| 1 | g.99910748del | CA2646738701 | AGL | c.3737del (p.Gly1246AspfsTer?) n.3948del c.3689del (p.Gly1230AspfsTer?) c.3686del (p.Gly1229AspfsTer?) c.1997del (p.Gly666AspfsTer?) | gnomAD v4 |
| 1 | g.99910748G>A | CA341337492 | AGL | c.3737G>A (p.Gly1246Glu) n.3948G>A c.3689G>A (p.Gly1230Glu) c.3686G>A (p.Gly1229Glu) c.1997G>A (p.Gly666Glu) | |
| 1 | g.99910748G>C | CA341337494 | AGL | c.3737G>C (p.Gly1246Ala) n.3948G>C c.3689G>C (p.Gly1230Ala) c.3686G>C (p.Gly1229Ala) c.1997G>C (p.Gly666Ala) | |
| 1 | g.99910748G>T | CA341337501 | AGL | c.3737G>T (p.Gly1246Val) n.3948G>T c.3689G>T (p.Gly1230Val) c.3686G>T (p.Gly1229Val) c.1997G>T (p.Gly666Val) | |
| 1 | g.99910749A= | CA1183941648 | AGL | c.3738A= (p.Gly1246=) n.3949A= c.3690A= (p.Gly1230=) c.3687A= (p.Gly1229=) c.1998A= (p.Gly666=) | |
| 1 | g.99910749A>C | CA419091143 | AGL | c.3738A>C (p.Gly1246=) n.3949A>C c.3690A>C (p.Gly1230=) c.3687A>C (p.Gly1229=) c.1998A>C (p.Gly666=) | ClinVar dbSNP |
| 1 | g.99910749A>G | CA27553424 | AGL | c.3738A>G (p.Gly1246=) n.3949A>G c.3690A>G (p.Gly1230=) c.3687A>G (p.Gly1229=) c.1998A>G (p.Gly666=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910749A>T | CA967205 | AGL | c.3738A>T (p.Gly1246=) n.3949A>T c.3690A>T (p.Gly1230=) c.3687A>T (p.Gly1229=) c.1998A>T (p.Gly666=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910750T>A | CA341337506 | AGL | c.3739T>A (p.Phe1247Ile) n.3950T>A c.3691T>A (p.Phe1231Ile) c.3688T>A (p.Phe1230Ile) c.1999T>A (p.Phe667Ile) | |
| 1 | g.99910750T>C | CA341337510 | AGL | c.3739T>C (p.Phe1247Leu) n.3950T>C c.3691T>C (p.Phe1231Leu) c.3688T>C (p.Phe1230Leu) c.1999T>C (p.Phe667Leu) | |
| 1 | g.99910750T>G | CA341337512 | AGL | c.3739T>G (p.Phe1247Val) n.3950T>G c.3691T>G (p.Phe1231Val) c.3688T>G (p.Phe1230Val) c.1999T>G (p.Phe667Val) | |
| 1 | g.99910751T>A | CA341337514 | AGL | c.3740T>A (p.Phe1247Tyr) n.3951T>A c.3692T>A (p.Phe1231Tyr) c.3689T>A (p.Phe1230Tyr) c.2000T>A (p.Phe667Tyr) | |
| 1 | g.99910751T>C | CA341337515 | AGL | c.3740T>C (p.Phe1247Ser) n.3951T>C c.3692T>C (p.Phe1231Ser) c.3689T>C (p.Phe1230Ser) c.2000T>C (p.Phe667Ser) | |
| 1 | g.99910751T>G | CA341337516 | AGL | c.3740T>G (p.Phe1247Cys) n.3951T>G c.3692T>G (p.Phe1231Cys) c.3689T>G (p.Phe1230Cys) c.2000T>G (p.Phe667Cys) | |
| 1 | g.99910752T>A | CA341337518 | AGL | c.3741T>A (p.Phe1247Leu) n.3952T>A c.3693T>A (p.Phe1231Leu) c.3690T>A (p.Phe1230Leu) c.2001T>A (p.Phe667Leu) | |
| 1 | g.99910752T>C | CA419091156 | AGL | c.3741T>C (p.Phe1247=) n.3952T>C c.3693T>C (p.Phe1231=) c.3690T>C (p.Phe1230=) c.2001T>C (p.Phe667=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99910752T>G | CA341337533 | AGL | c.3741T>G (p.Phe1247Leu) n.3952T>G c.3693T>G (p.Phe1231Leu) c.3690T>G (p.Phe1230Leu) c.2001T>G (p.Phe667Leu) | |
| 1 | g.99910752T= | CA1183941650 | AGL | c.3741T= (p.Phe1247=) n.3952T= c.3693T= (p.Phe1231=) c.3690T= (p.Phe1230=) c.2001T= (p.Phe667=) | |
| 1 | g.99910753G>A | CA341337540 | AGL | c.3742G>A (p.Val1248Ile) n.3953G>A c.3694G>A (p.Val1232Ile) c.3691G>A (p.Val1231Ile) c.2002G>A (p.Val668Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99910753G>C | CA341337538 | AGL | c.3742G>C (p.Val1248Leu) n.3953G>C c.3694G>C (p.Val1232Leu) c.3691G>C (p.Val1231Leu) c.2002G>C (p.Val668Leu) | |
| 1 | g.99910753G= | CA1183941651 | AGL | c.3742G= (p.Val1248=) n.3953G= c.3694G= (p.Val1232=) c.3691G= (p.Val1231=) c.2002G= (p.Val668=) | |
| 1 | g.99910753G>T | CA341337536 | AGL | c.3742G>T (p.Val1248Phe) n.3953G>T c.3694G>T (p.Val1232Phe) c.3691G>T (p.Val1231Phe) c.2002G>T (p.Val668Phe) | |
| 1 | g.99910754T>A | CA341337546 | AGL | c.3743T>A (p.Val1248Asp) n.3954T>A c.3695T>A (p.Val1232Asp) c.3692T>A (p.Val1231Asp) c.2003T>A (p.Val668Asp) | |
| 1 | g.99910754T>C | CA341337552 | AGL | c.3743T>C (p.Val1248Ala) n.3954T>C c.3695T>C (p.Val1232Ala) c.3692T>C (p.Val1231Ala) c.2003T>C (p.Val668Ala) | |
| 1 | g.99910754T>G | CA341337548 | AGL | c.3743T>G (p.Val1248Gly) n.3954T>G c.3695T>G (p.Val1232Gly) c.3692T>G (p.Val1231Gly) c.2003T>G (p.Val668Gly) | |
| 1 | g.99910756dup | CA2646738702 | AGL | c.3745dup (p.Tyr1249LeufsTer14) n.3956dup c.3697dup (p.Tyr1233LeufsTer14) c.3694dup (p.Tyr1232LeufsTer14) c.2005dup (p.Tyr669LeufsTer14) | gnomAD v4 |
| 1 | g.99910756del | CA2695198083 | AGL | c.3745del (p.Tyr1249MetfsTer?) n.3956del c.3697del (p.Tyr1233MetfsTer?) c.3694del (p.Tyr1232MetfsTer?) c.2005del (p.Tyr669MetfsTer?) | ClinVar |
| 1 | g.99910755T>A | CA419091163 | AGL | c.3744T>A (p.Val1248=) n.3955T>A c.3696T>A (p.Val1232=) c.3693T>A (p.Val1231=) c.2004T>A (p.Val668=) | |
| 1 | g.99910755T>C | CA419091165 | AGL | c.3744T>C (p.Val1248=) n.3955T>C c.3696T>C (p.Val1232=) c.3693T>C (p.Val1231=) c.2004T>C (p.Val668=) | |
| 1 | g.99910755T>G | CA419091166 | AGL | c.3744T>G (p.Val1248=) n.3955T>G c.3696T>G (p.Val1232=) c.3693T>G (p.Val1231=) c.2004T>G (p.Val668=) | |
| 1 | g.99910756T>A | CA341337557 | AGL | c.3745T>A (p.Tyr1249Asn) n.3956T>A c.3697T>A (p.Tyr1233Asn) c.3694T>A (p.Tyr1232Asn) c.2005T>A (p.Tyr669Asn) | |
| 1 | g.99910756T>C | CA341337560 | AGL | c.3745T>C (p.Tyr1249His) n.3956T>C c.3697T>C (p.Tyr1233His) c.3694T>C (p.Tyr1232His) c.2005T>C (p.Tyr669His) | |
| 1 | g.99910756T>G | CA341337563 | AGL | c.3745T>G (p.Tyr1249Asp) n.3956T>G c.3697T>G (p.Tyr1233Asp) c.3694T>G (p.Tyr1232Asp) c.2005T>G (p.Tyr669Asp) | |
| 1 | g.99910757A= | CA1183941652 | AGL | c.3746A= (p.Tyr1249=) n.3957A= c.3698A= (p.Tyr1233=) c.3695A= (p.Tyr1232=) c.2006A= (p.Tyr669=) | |
| 1 | g.99910757A>C | CA341337565 | AGL | c.3746A>C (p.Tyr1249Ser) n.3957A>C c.3698A>C (p.Tyr1233Ser) c.3695A>C (p.Tyr1232Ser) c.2006A>C (p.Tyr669Ser) | |
| 1 | g.99910757A>G | CA341337568 | AGL | c.3746A>G (p.Tyr1249Cys) n.3957A>G c.3698A>G (p.Tyr1233Cys) c.3695A>G (p.Tyr1232Cys) c.2006A>G (p.Tyr669Cys) | |
| 1 | g.99910757A>T | CA341337572 | AGL | c.3746A>T (p.Tyr1249Phe) n.3957A>T c.3698A>T (p.Tyr1233Phe) c.3695A>T (p.Tyr1232Phe) c.2006A>T (p.Tyr669Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910758T>A | CA341337575 | AGL | c.3747T>A (p.Tyr1249Ter) n.3958T>A c.3699T>A (p.Tyr1233Ter) c.3696T>A (p.Tyr1232Ter) c.2007T>A (p.Tyr669Ter) | |
| 1 | g.99910758T>C | CA419091174 | AGL | c.3747T>C (p.Tyr1249=) n.3958T>C c.3699T>C (p.Tyr1233=) c.3696T>C (p.Tyr1232=) c.2007T>C (p.Tyr669=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910758T>G | CA341337578 | AGL | c.3747T>G (p.Tyr1249Ter) n.3958T>G c.3699T>G (p.Tyr1233Ter) c.3696T>G (p.Tyr1232Ter) c.2007T>G (p.Tyr669Ter) | |
| 1 | g.99910758T= | CA1183941656 | AGL | c.3747T= (p.Tyr1249=) n.3958T= c.3699T= (p.Tyr1233=) c.3696T= (p.Tyr1232=) c.2007T= (p.Tyr669=) | |
| 1 | g.99910758dup | CA1139656258 | AGL | c.3747dup (p.Gly1250TrpfsTer13) n.3958dup c.3699dup (p.Gly1234TrpfsTer13) c.3696dup (p.Gly1233TrpfsTer13) c.2007dup (p.Gly670TrpfsTer13) | ClinVar dbSNP |
| 1 | g.99910759G>A | CA341337581 | AGL | c.3748G>A (p.Gly1250Arg) n.3959G>A c.3700G>A (p.Gly1234Arg) c.3697G>A (p.Gly1233Arg) c.2008G>A (p.Gly670Arg) | |
| 1 | g.99910759G>C | CA341337584 | AGL | c.3748G>C (p.Gly1250Arg) n.3959G>C c.3700G>C (p.Gly1234Arg) c.3697G>C (p.Gly1233Arg) c.2008G>C (p.Gly670Arg) | |
| 1 | g.99910759G>T | CA341337586 | AGL | c.3748G>T (p.Gly1250Ter) n.3959G>T c.3700G>T (p.Gly1234Ter) c.3697G>T (p.Gly1233Ter) c.2008G>T (p.Gly670Ter) | |
| 1 | g.99910760G>A | CA341337596 | AGL | c.3749G>A (p.Gly1250Glu) n.3960G>A c.3701G>A (p.Gly1234Glu) c.3698G>A (p.Gly1233Glu) c.2009G>A (p.Gly670Glu) | |
| 1 | g.99910760G>C | CA341337593 | AGL | c.3749G>C (p.Gly1250Ala) n.3960G>C c.3701G>C (p.Gly1234Ala) c.3698G>C (p.Gly1233Ala) c.2009G>C (p.Gly670Ala) | |
| 1 | g.99910760G>T | CA341337588 | AGL | c.3749G>T (p.Gly1250Val) n.3960G>T c.3701G>T (p.Gly1234Val) c.3698G>T (p.Gly1233Val) c.2009G>T (p.Gly670Val) | |
| 1 | g.99910761A>C | CA419091180 | AGL | c.3750A>C (p.Gly1250=) n.3961A>C c.3702A>C (p.Gly1234=) c.3699A>C (p.Gly1233=) c.2010A>C (p.Gly670=) | |
| 1 | g.99910761A>G | CA419091181 | AGL | c.3750A>G (p.Gly1250=) n.3961A>G c.3702A>G (p.Gly1234=) c.3699A>G (p.Gly1233=) c.2010A>G (p.Gly670=) | |
| 1 | g.99910761A>T | CA419091182 | AGL | c.3750A>T (p.Gly1250=) n.3961A>T c.3702A>T (p.Gly1234=) c.3699A>T (p.Gly1233=) c.2010A>T (p.Gly670=) | |
| 1 | g.99910762G>A | CA967206 | AGL | c.3751G>A (p.Gly1251Arg) n.3962G>A c.3703G>A (p.Gly1235Arg) c.3700G>A (p.Gly1234Arg) c.2011G>A (p.Gly671Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910762G>C | CA341337601 | AGL | c.3751G>C (p.Gly1251Arg) n.3962G>C c.3703G>C (p.Gly1235Arg) c.3700G>C (p.Gly1234Arg) c.2011G>C (p.Gly671Arg) | |
| 1 | g.99910762G= | CA1148236499 | AGL | c.3751G= (p.Gly1251=) n.3962G= c.3703G= (p.Gly1235=) c.3700G= (p.Gly1234=) c.2011G= (p.Gly671=) | |
| 1 | g.99910762G>T | CA341337605 | AGL | c.3751G>T (p.Gly1251Ter) n.3962G>T c.3703G>T (p.Gly1235Ter) c.3700G>T (p.Gly1234Ter) c.2011G>T (p.Gly671Ter) | |
| 1 | g.99910763G>A | CA341337608 | AGL | c.3752G>A (p.Gly1251Glu) n.3963G>A c.3704G>A (p.Gly1235Glu) c.3701G>A (p.Gly1234Glu) c.2012G>A (p.Gly671Glu) | gnomAD v4 |
| 1 | g.99910763G>C | CA341337611 | AGL | c.3752G>C (p.Gly1251Ala) n.3963G>C c.3704G>C (p.Gly1235Ala) c.3701G>C (p.Gly1234Ala) c.2012G>C (p.Gly671Ala) | |
| 1 | g.99910763G>T | CA341337616 | AGL | c.3752G>T (p.Gly1251Val) n.3963G>T c.3704G>T (p.Gly1235Val) c.3701G>T (p.Gly1234Val) c.2012G>T (p.Gly671Val) | |
| 1 | g.99910764A>C | CA419091187 | AGL | c.3753A>C (p.Gly1251=) n.3964A>C c.3705A>C (p.Gly1235=) c.3702A>C (p.Gly1234=) c.2013A>C (p.Gly671=) | |
| 1 | g.99910764A>G | CA419091188 | AGL | c.3753A>G (p.Gly1251=) n.3964A>G c.3705A>G (p.Gly1235=) c.3702A>G (p.Gly1234=) c.2013A>G (p.Gly671=) | |
| 1 | g.99910764A>T | CA419091190 | AGL | c.3753A>T (p.Gly1251=) n.3964A>T c.3705A>T (p.Gly1235=) c.3702A>T (p.Gly1234=) c.2013A>T (p.Gly671=) | |
| 1 | g.99910766del | CA2586967096 | AGL | c.3755del (p.Asn1252IlefsTer?) n.3966del c.3707del (p.Asn1236IlefsTer?) c.3704del (p.Asn1235IlefsTer?) c.2015del (p.Asn672IlefsTer?) | |
| 1 | g.99910765A>C | CA341337621 | AGL | c.3754A>C (p.Asn1252His) n.3965A>C c.3706A>C (p.Asn1236His) c.3703A>C (p.Asn1235His) c.2014A>C (p.Asn672His) | |
| 1 | g.99910765A>G | CA341337625 | AGL | c.3754A>G (p.Asn1252Asp) n.3965A>G c.3706A>G (p.Asn1236Asp) c.3703A>G (p.Asn1235Asp) c.2014A>G (p.Asn672Asp) | ClinVar |
| 1 | g.99910765A>T | CA341337627 | AGL | c.3754A>T (p.Asn1252Tyr) n.3965A>T c.3706A>T (p.Asn1236Tyr) c.3703A>T (p.Asn1235Tyr) c.2014A>T (p.Asn672Tyr) | |
| 1 | g.99910766A= | CA1183941658 | AGL | c.3755A= (p.Asn1252=) n.3966A= c.3707A= (p.Asn1236=) c.3704A= (p.Asn1235=) c.2015A= (p.Asn672=) | |
| 1 | g.99910766A>C | CA341337635 | AGL | c.3755A>C (p.Asn1252Thr) n.3966A>C c.3707A>C (p.Asn1236Thr) c.3704A>C (p.Asn1235Thr) c.2015A>C (p.Asn672Thr) | |
| 1 | g.99910766A>G | CA341337637 | AGL | c.3755A>G (p.Asn1252Ser) n.3966A>G c.3707A>G (p.Asn1236Ser) c.3704A>G (p.Asn1235Ser) c.2015A>G (p.Asn672Ser) | ClinVar dbSNP |
| 1 | g.99910766A>T | CA341337639 | AGL | c.3755A>T (p.Asn1252Ile) n.3966A>T c.3707A>T (p.Asn1236Ile) c.3704A>T (p.Asn1235Ile) c.2015A>T (p.Asn672Ile) | |
| 1 | g.99910767T>A | CA341337643 | AGL | c.3756T>A (p.Asn1252Lys) n.3967T>A c.3708T>A (p.Asn1236Lys) c.3705T>A (p.Asn1235Lys) c.2016T>A (p.Asn672Lys) | |
| 1 | g.99910767T>C | CA419091197 | AGL | c.3756T>C (p.Asn1252=) n.3967T>C c.3708T>C (p.Asn1236=) c.3705T>C (p.Asn1235=) c.2016T>C (p.Asn672=) | |
| 1 | g.99910767T>G | CA341337642 | AGL | c.3756T>G (p.Asn1252Lys) n.3967T>G c.3708T>G (p.Asn1236Lys) c.3705T>G (p.Asn1235Lys) c.2016T>G (p.Asn672Lys) | |
| 1 | g.99910767dup | CA2499214926 | AGL | c.3756dup (p.Arg1253SerfsTer10) n.3967dup c.3708dup (p.Arg1237SerfsTer10) c.3705dup (p.Arg1236SerfsTer10) c.2016dup (p.Arg673SerfsTer10) | ClinVar dbSNP |
| 1 | g.99910768C>A | CA27553453 | AGL | c.3757C>A (p.Arg1253Ser) n.3968C>A c.3709C>A (p.Arg1237Ser) c.3706C>A (p.Arg1236Ser) c.2017C>A (p.Arg673Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99910768C= | CA1144066735 | AGL | c.3757C= (p.Arg1253=) n.3968C= c.3709C= (p.Arg1237=) c.3706C= (p.Arg1236=) c.2017C= (p.Arg673=) | |
| 1 | g.99910768C>G | CA341337654 | AGL | c.3757C>G (p.Arg1253Gly) n.3968C>G c.3709C>G (p.Arg1237Gly) c.3706C>G (p.Arg1236Gly) c.2017C>G (p.Arg673Gly) | |
| 1 | g.99910768C>T | CA967207 | AGL | c.3757C>T (p.Arg1253Cys) n.3968C>T c.3709C>T (p.Arg1237Cys) c.3706C>T (p.Arg1236Cys) c.2017C>T (p.Arg673Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.99910769G>A | CA967208 | AGL | c.3758G>A (p.Arg1253His) n.3969G>A c.3710G>A (p.Arg1237His) c.3707G>A (p.Arg1236His) c.2018G>A (p.Arg673His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910769G>C | CA341337661 | AGL | c.3758G>C (p.Arg1253Pro) n.3969G>C c.3710G>C (p.Arg1237Pro) c.3707G>C (p.Arg1236Pro) c.2018G>C (p.Arg673Pro) | |
| 1 | g.99910769G= | CA1140314085 | AGL | c.3758G= (p.Arg1253=) n.3969G= c.3710G= (p.Arg1237=) c.3707G= (p.Arg1236=) c.2018G= (p.Arg673=) | |
| 1 | g.99910769G>T | CA341337667 | AGL | c.3758G>T (p.Arg1253Leu) n.3969G>T c.3710G>T (p.Arg1237Leu) c.3707G>T (p.Arg1236Leu) c.2018G>T (p.Arg673Leu) | |
| 1 | g.99910770T>A | CA419091208 | AGL | c.3759T>A (p.Arg1253=) n.3970T>A c.3711T>A (p.Arg1237=) c.3708T>A (p.Arg1236=) c.2019T>A (p.Arg673=) | |
| 1 | g.99910770T>C | CA967209 | AGL | c.3759T>C (p.Arg1253=) n.3970T>C c.3711T>C (p.Arg1237=) c.3708T>C (p.Arg1236=) c.2019T>C (p.Arg673=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910770T>G | CA419091213 | AGL | c.3759T>G (p.Arg1253=) n.3970T>G c.3711T>G (p.Arg1237=) c.3708T>G (p.Arg1236=) c.2019T>G (p.Arg673=) | |
| 1 | g.99910770T= | CA1149105029 | AGL | c.3759T= (p.Arg1253=) n.3970T= c.3711T= (p.Arg1237=) c.3708T= (p.Arg1236=) c.2019T= (p.Arg673=) | |
| 1 | g.99910771T>A | CA341337675 | AGL | c.3760T>A (p.Phe1254Ile) n.3971T>A c.3712T>A (p.Phe1238Ile) c.3709T>A (p.Phe1237Ile) c.2020T>A (p.Phe674Ile) | |
| 1 | g.99910771T>C | CA341337677 | AGL | c.3760T>C (p.Phe1254Leu) n.3971T>C c.3712T>C (p.Phe1238Leu) c.3709T>C (p.Phe1237Leu) c.2020T>C (p.Phe674Leu) | |
| 1 | g.99910771T>G | CA341337688 | AGL | c.3760T>G (p.Phe1254Val) n.3971T>G c.3712T>G (p.Phe1238Val) c.3709T>G (p.Phe1237Val) c.2020T>G (p.Phe674Val) | |
| 1 | g.99910772T>A | CA341337691 | AGL | c.3761T>A (p.Phe1254Tyr) n.3972T>A c.3713T>A (p.Phe1238Tyr) c.3710T>A (p.Phe1237Tyr) c.2021T>A (p.Phe674Tyr) | |
| 1 | g.99910772T>C | CA341337693 | AGL | c.3761T>C (p.Phe1254Ser) n.3972T>C c.3713T>C (p.Phe1238Ser) c.3710T>C (p.Phe1237Ser) c.2021T>C (p.Phe674Ser) | |
| 1 | g.99910772T>G | CA341337695 | AGL | c.3761T>G (p.Phe1254Cys) n.3972T>G c.3713T>G (p.Phe1238Cys) c.3710T>G (p.Phe1237Cys) c.2021T>G (p.Phe674Cys) | |
| 1 | g.99910773C>A | CA341337698 | AGL | c.3762C>A (p.Phe1254Leu) n.3973C>A c.3714C>A (p.Phe1238Leu) c.3711C>A (p.Phe1237Leu) c.2022C>A (p.Phe674Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99910773C= | CA1183941661 | AGL | c.3762C= (p.Phe1254=) n.3973C= c.3714C= (p.Phe1238=) c.3711C= (p.Phe1237=) c.2022C= (p.Phe674=) | |
| 1 | g.99910773C>G | CA341337696 | AGL | c.3762C>G (p.Phe1254Leu) n.3973C>G c.3714C>G (p.Phe1238Leu) c.3711C>G (p.Phe1237Leu) c.2022C>G (p.Phe674Leu) | |
| 1 | g.99910773C>T | CA419091224 | AGL | c.3762C>T (p.Phe1254=) n.3973C>T c.3714C>T (p.Phe1238=) c.3711C>T (p.Phe1237=) c.2022C>T (p.Phe674=) | |
| 1 | g.99910774A>C | CA341337700 | AGL | c.3763A>C (p.Asn1255His) n.3974A>C c.3715A>C (p.Asn1239His) c.3712A>C (p.Asn1238His) c.2023A>C (p.Asn675His) | |
| 1 | g.99910774A>G | CA341337703 | AGL | c.3763A>G (p.Asn1255Asp) n.3974A>G c.3715A>G (p.Asn1239Asp) c.3712A>G (p.Asn1238Asp) c.2023A>G (p.Asn675Asp) | |
| 1 | g.99910774A>T | CA341337705 | AGL | c.3763A>T (p.Asn1255Tyr) n.3974A>T c.3715A>T (p.Asn1239Tyr) c.3712A>T (p.Asn1238Tyr) c.2023A>T (p.Asn675Tyr) | |
| 1 | g.99910775A= | CA1141598856 | AGL | c.3764A= (p.Asn1255=) n.3975A= c.3716A= (p.Asn1239=) c.3713A= (p.Asn1238=) c.2024A= (p.Asn675=) | |
| 1 | g.99910775A>C | CA967211 | AGL | c.3764A>C (p.Asn1255Thr) n.3975A>C c.3716A>C (p.Asn1239Thr) c.3713A>C (p.Asn1238Thr) c.2024A>C (p.Asn675Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910775A>G | CA967210 | AGL | c.3764A>G (p.Asn1255Ser) n.3975A>G c.3716A>G (p.Asn1239Ser) c.3713A>G (p.Asn1238Ser) c.2024A>G (p.Asn675Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910775A>T | CA341337707 | AGL | c.3764A>T (p.Asn1255Ile) n.3975A>T c.3716A>T (p.Asn1239Ile) c.3713A>T (p.Asn1238Ile) c.2024A>T (p.Asn675Ile) | |
| 1 | g.99910776T>A | CA341337708 | AGL | c.3765T>A (p.Asn1255Lys) n.3976T>A c.3717T>A (p.Asn1239Lys) c.3714T>A (p.Asn1238Lys) c.2025T>A (p.Asn675Lys) | |
| 1 | g.99910776T>C | CA419091237 | AGL | c.3765T>C (p.Asn1255=) n.3976T>C c.3717T>C (p.Asn1239=) c.3714T>C (p.Asn1238=) c.2025T>C (p.Asn675=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910776T>G | CA341337710 | AGL | c.3765T>G (p.Asn1255Lys) n.3976T>G c.3717T>G (p.Asn1239Lys) c.3714T>G (p.Asn1238Lys) c.2025T>G (p.Asn675Lys) | |
| 1 | g.99910776T= | CA1183941665 | AGL | c.3765T= (p.Asn1255=) n.3976T= c.3717T= (p.Asn1239=) c.3714T= (p.Asn1238=) c.2025T= (p.Asn675=) | |
| 1 | g.99910777T>A | CA341337712 | AGL | c.3766T>A (p.Cys1256Ser) n.3977T>A c.3718T>A (p.Cys1240Ser) c.3715T>A (p.Cys1239Ser) c.2026T>A (p.Cys676Ser) | |
| 1 | g.99910777T>C | CA341337716 | AGL | c.3766T>C (p.Cys1256Arg) n.3977T>C c.3718T>C (p.Cys1240Arg) c.3715T>C (p.Cys1239Arg) c.2026T>C (p.Cys676Arg) | dbSNP |
| 1 | g.99910777T>G | CA341337718 | AGL | c.3766T>G (p.Cys1256Gly) n.3977T>G c.3718T>G (p.Cys1240Gly) c.3715T>G (p.Cys1239Gly) c.2026T>G (p.Cys676Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910777T= | CA1183941667 | AGL | c.3766T= (p.Cys1256=) n.3977T= c.3718T= (p.Cys1240=) c.3715T= (p.Cys1239=) c.2026T= (p.Cys676=) | |
| 1 | g.99910778G>A | CA341337723 | AGL | c.3767G>A (p.Cys1256Tyr) n.3978G>A c.3719G>A (p.Cys1240Tyr) c.3716G>A (p.Cys1239Tyr) c.2027G>A (p.Cys676Tyr) | |
| 1 | g.99910778G>C | CA341337725 | AGL | c.3767G>C (p.Cys1256Ser) n.3978G>C c.3719G>C (p.Cys1240Ser) c.3716G>C (p.Cys1239Ser) c.2027G>C (p.Cys676Ser) | |
| 1 | g.99910778G>T | CA341337727 | AGL | c.3767G>T (p.Cys1256Phe) n.3978G>T c.3719G>T (p.Cys1240Phe) c.3716G>T (p.Cys1239Phe) c.2027G>T (p.Cys676Phe) | ClinVar gnomAD v4 |
| 1 | g.99910779T>A | CA341337728 | AGL | c.3768T>A (p.Cys1256Ter) n.3979T>A c.3720T>A (p.Cys1240Ter) c.3717T>A (p.Cys1239Ter) c.2028T>A (p.Cys676Ter) | |
| 1 | g.99910779T>C | CA419091250 | AGL | c.3768T>C (p.Cys1256=) n.3979T>C c.3720T>C (p.Cys1240=) c.3717T>C (p.Cys1239=) c.2028T>C (p.Cys676=) | |
| 1 | g.99910779T>G | CA341337730 | AGL | c.3768T>G (p.Cys1256Trp) n.3979T>G c.3720T>G (p.Cys1240Trp) c.3717T>G (p.Cys1239Trp) c.2028T>G (p.Cys676Trp) | |
| 1 | g.99910780G>A | CA341337734 | AGL | c.3769G>A (p.Gly1257Ser) n.3980G>A c.3721G>A (p.Gly1241Ser) c.3718G>A (p.Gly1240Ser) c.2029G>A (p.Gly677Ser) | |
| 1 | g.99910780G>C | CA341337751 | AGL | c.3769G>C (p.Gly1257Arg) n.3980G>C c.3721G>C (p.Gly1241Arg) c.3718G>C (p.Gly1240Arg) c.2029G>C (p.Gly677Arg) | |
| 1 | g.99910780G>T | CA341337742 | AGL | c.3769G>T (p.Gly1257Cys) n.3980G>T c.3721G>T (p.Gly1241Cys) c.3718G>T (p.Gly1240Cys) c.2029G>T (p.Gly677Cys) | |
| 1 | g.99910781G>A | CA341337753 | AGL | c.3770G>A (p.Gly1257Asp) n.3981G>A c.3722G>A (p.Gly1241Asp) c.3719G>A (p.Gly1240Asp) c.2030G>A (p.Gly677Asp) | gnomAD v4 |
| 1 | g.99910781G>C | CA341337758 | AGL | c.3770G>C (p.Gly1257Ala) n.3981G>C c.3722G>C (p.Gly1241Ala) c.3719G>C (p.Gly1240Ala) c.2030G>C (p.Gly677Ala) | |
| 1 | g.99910781G>T | CA341337757 | AGL | c.3770G>T (p.Gly1257Val) n.3981G>T c.3722G>T (p.Gly1241Val) c.3719G>T (p.Gly1240Val) c.2030G>T (p.Gly677Val) | |
| 1 | g.99910782del | CA2580063368 | AGL | c.3771del (p.Thr1258HisfsTer?) n.3982del c.3723del (p.Thr1242HisfsTer?) c.3720del (p.Thr1241HisfsTer?) c.2031del (p.Thr678HisfsTer?) | ClinVar |
| 1 | g.99910782C>A | CA419091262 | AGL | c.3771C>A (p.Gly1257=) n.3982C>A c.3723C>A (p.Gly1241=) c.3720C>A (p.Gly1240=) c.2031C>A (p.Gly677=) | |
| 1 | g.99910782C= | CA1183941668 | AGL | c.3771C= (p.Gly1257=) n.3982C= c.3723C= (p.Gly1241=) c.3720C= (p.Gly1240=) c.2031C= (p.Gly677=) | |
| 1 | g.99910782C>G | CA419091263 | AGL | c.3771C>G (p.Gly1257=) n.3982C>G c.3723C>G (p.Gly1241=) c.3720C>G (p.Gly1240=) c.2031C>G (p.Gly677=) | |
| 1 | g.99910782C>T | CA967212 | AGL | c.3771C>T (p.Gly1257=) n.3982C>T c.3723C>T (p.Gly1241=) c.3720C>T (p.Gly1240=) c.2031C>T (p.Gly677=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910783A>C | CA341337760 | AGL | c.3772A>C (p.Thr1258Pro) n.3983A>C c.3724A>C (p.Thr1242Pro) c.3721A>C (p.Thr1241Pro) c.2032A>C (p.Thr678Pro) | |
| 1 | g.99910783A>G | CA341337762 | AGL | c.3772A>G (p.Thr1258Ala) n.3983A>G c.3724A>G (p.Thr1242Ala) c.3721A>G (p.Thr1241Ala) c.2032A>G (p.Thr678Ala) | |
| 1 | g.99910783A>T | CA341337764 | AGL | c.3772A>T (p.Thr1258Ser) n.3983A>T c.3724A>T (p.Thr1242Ser) c.3721A>T (p.Thr1241Ser) c.2032A>T (p.Thr678Ser) | |
| 1 | g.99910783_99910787del | CA2499214927 | AGL | c.3772_3776del (p.Thr1258AspfsTer3) n.3983_3987del c.3724_3728del (p.Thr1242AspfsTer3) c.3721_3725del (p.Thr1241AspfsTer3) c.2032_2036del (p.Thr678AspfsTer3) | ClinVar dbSNP |
| 1 | g.99910784C>A | CA341337766 | AGL | c.3773C>A (p.Thr1258Lys) n.3984C>A c.3725C>A (p.Thr1242Lys) c.3722C>A (p.Thr1241Lys) c.2033C>A (p.Thr678Lys) | |
| 1 | g.99910784C>G | CA341337769 | AGL | c.3773C>G (p.Thr1258Arg) n.3984C>G c.3725C>G (p.Thr1242Arg) c.3722C>G (p.Thr1241Arg) c.2033C>G (p.Thr678Arg) | |
| 1 | g.99910784C>T | CA341337770 | AGL | c.3773C>T (p.Thr1258Ile) n.3984C>T c.3725C>T (p.Thr1242Ile) c.3722C>T (p.Thr1241Ile) c.2033C>T (p.Thr678Ile) | |
| 1 | g.99910785A= | CA1143660614 | AGL | c.3774A= (p.Thr1258=) n.3985A= c.3726A= (p.Thr1242=) c.3723A= (p.Thr1241=) c.2034A= (p.Thr678=) | |
| 1 | g.99910785A>C | CA419091276 | AGL | c.3774A>C (p.Thr1258=) n.3985A>C c.3726A>C (p.Thr1242=) c.3723A>C (p.Thr1241=) c.2034A>C (p.Thr678=) | dbSNP |
| 1 | g.99910785A>G | CA27553531 | AGL | c.3774A>G (p.Thr1258=) n.3985A>G c.3726A>G (p.Thr1242=) c.3723A>G (p.Thr1241=) c.2034A>G (p.Thr678=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910785A>T | CA419091280 | AGL | c.3774A>T (p.Thr1258=) n.3985A>T c.3726A>T (p.Thr1242=) c.3723A>T (p.Thr1241=) c.2034A>T (p.Thr678=) | |
| 1 | g.99910786T>A | CA341337777 | AGL | c.3775T>A (p.Trp1259Arg) n.3986T>A c.3727T>A (p.Trp1243Arg) c.3724T>A (p.Trp1242Arg) c.2035T>A (p.Trp679Arg) | |
| 1 | g.99910786T>C | CA341337778 | AGL | c.3775T>C (p.Trp1259Arg) n.3986T>C c.3727T>C (p.Trp1243Arg) c.3724T>C (p.Trp1242Arg) c.2035T>C (p.Trp679Arg) | |
| 1 | g.99910786T>G | CA341337779 | AGL | c.3775T>G (p.Trp1259Gly) n.3986T>G c.3727T>G (p.Trp1243Gly) c.3724T>G (p.Trp1242Gly) c.2035T>G (p.Trp679Gly) | |
| 1 | g.99910787G>A | CA341337780 | AGL | c.3776G>A (p.Trp1259Ter) n.3987G>A c.3728G>A (p.Trp1243Ter) c.3725G>A (p.Trp1242Ter) c.2036G>A (p.Trp679Ter) | |
| 1 | g.99910787G>C | CA341337782 | AGL | c.3776G>C (p.Trp1259Ser) n.3987G>C c.3728G>C (p.Trp1243Ser) c.3725G>C (p.Trp1242Ser) c.2036G>C (p.Trp679Ser) | |
| 1 | g.99910787G>T | CA341337781 | AGL | c.3776G>T (p.Trp1259Leu) n.3987G>T c.3728G>T (p.Trp1243Leu) c.3725G>T (p.Trp1242Leu) c.2036G>T (p.Trp679Leu) | |
| 1 | g.99910788G>A | CA341337784 | AGL | c.3777G>A (p.Trp1259Ter) n.3988G>A c.3729G>A (p.Trp1243Ter) c.3726G>A (p.Trp1242Ter) c.2037G>A (p.Trp679Ter) | |
| 1 | g.99910788G>C | CA341337786 | AGL | c.3777G>C (p.Trp1259Cys) n.3988G>C c.3729G>C (p.Trp1243Cys) c.3726G>C (p.Trp1242Cys) c.2037G>C (p.Trp679Cys) | dbSNP |
| 1 | g.99910788G= | CA1183941669 | AGL | c.3777G= (p.Trp1259=) n.3988G= c.3729G= (p.Trp1243=) c.3726G= (p.Trp1242=) c.2037G= (p.Trp679=) | |
| 1 | g.99910788G>T | CA341337789 | AGL | c.3777G>T (p.Trp1259Cys) n.3988G>T c.3729G>T (p.Trp1243Cys) c.3726G>T (p.Trp1242Cys) c.2037G>T (p.Trp679Cys) | |
| 1 | g.99910788_99910789delinsAC | CA2573132632 | AGL | c.3777_3778delinsAC (p.Trp1259Ter) n.3988_3989delinsAC c.3729_3730delinsAC (p.Trp1243Ter) c.3726_3727delinsAC (p.Trp1242Ter) c.2037_2038delinsAC (p.Trp679Ter) | ClinVar dbSNP |
| 1 | g.99910789A>C | CA341337796 | AGL | c.3778A>C (p.Met1260Leu) n.3989A>C c.3730A>C (p.Met1244Leu) c.3727A>C (p.Met1243Leu) c.2038A>C (p.Met680Leu) | |
| 1 | g.99910789A>G | CA341337801 | AGL | c.3778A>G (p.Met1260Val) n.3989A>G c.3730A>G (p.Met1244Val) c.3727A>G (p.Met1243Val) c.2038A>G (p.Met680Val) | |
| 1 | g.99910789A>T | CA341337802 | AGL | c.3778A>T (p.Met1260Leu) n.3989A>T c.3730A>T (p.Met1244Leu) c.3727A>T (p.Met1243Leu) c.2038A>T (p.Met680Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99910790T>A | CA341337807 | AGL | c.3779T>A (p.Met1260Lys) n.3990T>A c.3731T>A (p.Met1244Lys) c.3728T>A (p.Met1243Lys) c.2039T>A (p.Met680Lys) | |
| 1 | g.99910790T>C | CA341337809 | AGL | c.3779T>C (p.Met1260Thr) n.3990T>C c.3731T>C (p.Met1244Thr) c.3728T>C (p.Met1243Thr) c.2039T>C (p.Met680Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910790T>G | CA341337811 | AGL | c.3779T>G (p.Met1260Arg) n.3990T>G c.3731T>G (p.Met1244Arg) c.3728T>G (p.Met1243Arg) c.2039T>G (p.Met680Arg) | |
| 1 | g.99910790T= | CA1183941670 | AGL | c.3779T= (p.Met1260=) n.3990T= c.3731T= (p.Met1244=) c.3728T= (p.Met1243=) c.2039T= (p.Met680=) | |
| 1 | g.99910791G>A | CA341337813 | AGL | c.3780G>A (p.Met1260Ile) n.3991G>A c.3732G>A (p.Met1244Ile) c.3729G>A (p.Met1243Ile) c.2040G>A (p.Met680Ile) | |
| 1 | g.99910791G>C | CA341337814 | AGL | c.3780G>C (p.Met1260Ile) n.3991G>C c.3732G>C (p.Met1244Ile) c.3729G>C (p.Met1243Ile) c.2040G>C (p.Met680Ile) | |
| 1 | g.99910791G>T | CA341337812 | AGL | c.3780G>T (p.Met1260Ile) n.3991G>T c.3732G>T (p.Met1244Ile) c.3729G>T (p.Met1243Ile) c.2040G>T (p.Met680Ile) | |
| 1 | g.99910792G>A | CA341337815 | AGL | c.3781G>A (p.Asp1261Asn) n.3992G>A c.3733G>A (p.Asp1245Asn) c.3730G>A (p.Asp1244Asn) c.2041G>A (p.Asp681Asn) | ClinVar dbSNP |
| 1 | g.99910792G>C | CA341337817 | AGL | c.3781G>C (p.Asp1261His) n.3992G>C c.3733G>C (p.Asp1245His) c.3730G>C (p.Asp1244His) c.2041G>C (p.Asp681His) | |
| 1 | g.99910792G>T | CA341337823 | AGL | c.3781G>T (p.Asp1261Tyr) n.3992G>T c.3733G>T (p.Asp1245Tyr) c.3730G>T (p.Asp1244Tyr) c.2041G>T (p.Asp681Tyr) | COSMIC COSMIC |
| 1 | g.99910793A>C | CA341337824 | AGL | c.3782A>C (p.Asp1261Ala) n.3993A>C c.3734A>C (p.Asp1245Ala) c.3731A>C (p.Asp1244Ala) c.2042A>C (p.Asp681Ala) | |
| 1 | g.99910793A>G | CA341337826 | AGL | c.3782A>G (p.Asp1261Gly) n.3993A>G c.3734A>G (p.Asp1245Gly) c.3731A>G (p.Asp1244Gly) c.2042A>G (p.Asp681Gly) | |
| 1 | g.99910793A>T | CA341337829 | AGL | c.3782A>T (p.Asp1261Val) n.3993A>T c.3734A>T (p.Asp1245Val) c.3731A>T (p.Asp1244Val) c.2042A>T (p.Asp681Val) | |
| 1 | g.99910794T>A | CA341337830 | AGL | c.3783T>A (p.Asp1261Glu) n.3994T>A c.3735T>A (p.Asp1245Glu) c.3732T>A (p.Asp1244Glu) c.2043T>A (p.Asp681Glu) | |
| 1 | g.99910794T>C | CA419091336 | AGL | c.3783T>C (p.Asp1261=) n.3994T>C c.3735T>C (p.Asp1245=) c.3732T>C (p.Asp1244=) c.2043T>C (p.Asp681=) | |
| 1 | g.99910794T>G | CA967213 | AGL | c.3783T>G (p.Asp1261Glu) n.3994T>G c.3735T>G (p.Asp1245Glu) c.3732T>G (p.Asp1244Glu) c.2043T>G (p.Asp681Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910794T= | CA1183941671 | AGL | c.3783T= (p.Asp1261=) n.3994T= c.3735T= (p.Asp1245=) c.3732T= (p.Asp1244=) c.2043T= (p.Asp681=) | |
| 1 | g.99910795A>C | CA341337832 | AGL | c.3784A>C (p.Lys1262Gln) n.3995A>C c.3736A>C (p.Lys1246Gln) c.3733A>C (p.Lys1245Gln) c.2044A>C (p.Lys682Gln) | gnomAD v4 |
| 1 | g.99910795A>G | CA341337833 | AGL | c.3784A>G (p.Lys1262Glu) n.3995A>G c.3736A>G (p.Lys1246Glu) c.3733A>G (p.Lys1245Glu) c.2044A>G (p.Lys682Glu) | |
| 1 | g.99910795A>T | CA341337835 | AGL | c.3784A>T (p.Lys1262Ter) n.3995A>T c.3736A>T (p.Lys1246Ter) c.3733A>T (p.Lys1245Ter) c.2044A>T (p.Lys682Ter) | |
| 1 | g.99910798del | CA2580063369 | AGL | c.3787del (p.Met1263TrpfsTer27) n.3998del c.3739del (p.Met1247TrpfsTer27) c.3736del (p.Met1246TrpfsTer27) c.2047del (p.Met683TrpfsTer27) | ClinVar |
| 1 | g.99910796A>C | CA341337849 | AGL | c.3785A>C (p.Lys1262Thr) n.3996A>C c.3737A>C (p.Lys1246Thr) c.3734A>C (p.Lys1245Thr) c.2045A>C (p.Lys682Thr) | |
| 1 | g.99910796A>G | CA341337851 | AGL | c.3785A>G (p.Lys1262Arg) n.3996A>G c.3737A>G (p.Lys1246Arg) c.3734A>G (p.Lys1245Arg) c.2045A>G (p.Lys682Arg) | |
| 1 | g.99910796A>T | CA341337847 | AGL | c.3785A>T (p.Lys1262Ile) n.3996A>T c.3737A>T (p.Lys1246Ile) c.3734A>T (p.Lys1245Ile) c.2045A>T (p.Lys682Ile) | |
| 1 | g.99910797A>C | CA341337857 | AGL | c.3786A>C (p.Lys1262Asn) n.3997A>C c.3738A>C (p.Lys1246Asn) c.3735A>C (p.Lys1245Asn) c.2046A>C (p.Lys682Asn) | |
| 1 | g.99910797A>G | CA419091351 | AGL | c.3786A>G (p.Lys1262=) n.3997A>G c.3738A>G (p.Lys1246=) c.3735A>G (p.Lys1245=) c.2046A>G (p.Lys682=) | |
| 1 | g.99910797A>T | CA341337860 | AGL | c.3786A>T (p.Lys1262Asn) n.3997A>T c.3738A>T (p.Lys1246Asn) c.3735A>T (p.Lys1245Asn) c.2046A>T (p.Lys682Asn) | |
| 1 | g.99910798A= | CA1146110303 | AGL | c.3787A= (p.Met1263=) n.3998A= c.3739A= (p.Met1247=) c.3736A= (p.Met1246=) c.2047A= (p.Met683=) | |
| 1 | g.99910798A>C | CA341337863 | AGL | c.3787A>C (p.Met1263Leu) n.3998A>C c.3739A>C (p.Met1247Leu) c.3736A>C (p.Met1246Leu) c.2047A>C (p.Met683Leu) | |
| 1 | g.99910798A>G | CA967214 | AGL | c.3787A>G (p.Met1263Val) n.3998A>G c.3739A>G (p.Met1247Val) c.3736A>G (p.Met1246Val) c.2047A>G (p.Met683Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910798A>T | CA341337868 | AGL | c.3787A>T (p.Met1263Leu) n.3998A>T c.3739A>T (p.Met1247Leu) c.3736A>T (p.Met1246Leu) c.2047A>T (p.Met683Leu) | |
| 1 | g.99910799T>A | CA341337874 | AGL | c.3788T>A (p.Met1263Lys) n.3999T>A c.3740T>A (p.Met1247Lys) c.3737T>A (p.Met1246Lys) c.2048T>A (p.Met683Lys) | |
| 1 | g.99910799T>C | CA341337871 | AGL | c.3788T>C (p.Met1263Thr) n.3999T>C c.3740T>C (p.Met1247Thr) c.3737T>C (p.Met1246Thr) c.2048T>C (p.Met683Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910799T>G | CA341337873 | AGL | c.3788T>G (p.Met1263Arg) n.3999T>G c.3740T>G (p.Met1247Arg) c.3737T>G (p.Met1246Arg) c.2048T>G (p.Met683Arg) | |
| 1 | g.99910799T= | CA1183941672 | AGL | c.3788T= (p.Met1263=) n.3999T= c.3740T= (p.Met1247=) c.3737T= (p.Met1246=) c.2048T= (p.Met683=) | |
| 1 | g.99910800G>A | CA341337876 | AGL | c.3789G>A (p.Met1263Ile) n.4000G>A c.3741G>A (p.Met1247Ile) c.3738G>A (p.Met1246Ile) c.2049G>A (p.Met683Ile) | gnomAD v4 |
| 1 | g.99910800G>C | CA341337877 | AGL | c.3789G>C (p.Met1263Ile) n.4000G>C c.3741G>C (p.Met1247Ile) c.3738G>C (p.Met1246Ile) c.2049G>C (p.Met683Ile) | |
| 1 | g.99910800G= | CA1183941674 | AGL | c.3789G= (p.Met1263=) n.4000G= c.3741G= (p.Met1247=) c.3738G= (p.Met1246=) c.2049G= (p.Met683=) | |
| 1 | g.99910800G>T | CA341337879 | AGL | c.3789G>T (p.Met1263Ile) n.4000G>T c.3741G>T (p.Met1247Ile) c.3738G>T (p.Met1246Ile) c.2049G>T (p.Met683Ile) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.99910801G>A | CA341337881 | AGL | c.3790G>A (p.Gly1264Arg) n.4001G>A c.3742G>A (p.Gly1248Arg) c.3739G>A (p.Gly1247Arg) c.2050G>A (p.Gly684Arg) | ClinVar gnomAD v4 |
| 1 | g.99910801G>C | CA341337883 | AGL | c.3790G>C (p.Gly1264Arg) n.4001G>C c.3742G>C (p.Gly1248Arg) c.3739G>C (p.Gly1247Arg) c.2050G>C (p.Gly684Arg) | |
| 1 | g.99910801G>T | CA341337885 | AGL | c.3790G>T (p.Gly1264Ter) n.4001G>T c.3742G>T (p.Gly1248Ter) c.3739G>T (p.Gly1247Ter) c.2050G>T (p.Gly684Ter) | ClinVar |
| 1 | g.99910802G>A | CA341337893 | AGL | c.3791G>A (p.Gly1264Glu) n.4002G>A c.3743G>A (p.Gly1248Glu) c.3740G>A (p.Gly1247Glu) c.2051G>A (p.Gly684Glu) | |
| 1 | g.99910802G>C | CA341337895 | AGL | c.3791G>C (p.Gly1264Ala) n.4002G>C c.3743G>C (p.Gly1248Ala) c.3740G>C (p.Gly1247Ala) c.2051G>C (p.Gly684Ala) | |
| 1 | g.99910802G>T | CA341337892 | AGL | c.3791G>T (p.Gly1264Val) n.4002G>T c.3743G>T (p.Gly1248Val) c.3740G>T (p.Gly1247Val) c.2051G>T (p.Gly684Val) | |
| 1 | g.99910803A= | CA1142251090 | AGL | c.3792A= (p.Gly1264=) n.4003A= c.3744A= (p.Gly1248=) c.3741A= (p.Gly1247=) c.2052A= (p.Gly684=) | |
| 1 | g.99910803A>C | CA419091378 | AGL | c.3792A>C (p.Gly1264=) n.4003A>C c.3744A>C (p.Gly1248=) c.3741A>C (p.Gly1247=) c.2052A>C (p.Gly684=) | |
| 1 | g.99910803A>G | CA419091379 | AGL | c.3792A>G (p.Gly1264=) n.4003A>G c.3744A>G (p.Gly1248=) c.3741A>G (p.Gly1247=) c.2052A>G (p.Gly684=) | |
| 1 | g.99910803A>T | CA967215 | AGL | c.3792A>T (p.Gly1264=) n.4003A>T c.3744A>T (p.Gly1248=) c.3741A>T (p.Gly1247=) c.2052A>T (p.Gly684=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910804G>A | CA341337901 | AGL | c.3793G>A (p.Glu1265Lys) n.4004G>A c.3745G>A (p.Glu1249Lys) c.3742G>A (p.Glu1248Lys) c.2053G>A (p.Glu685Lys) | |
| 1 | g.99910804G>C | CA341337902 | AGL | c.3793G>C (p.Glu1265Gln) n.4004G>C c.3745G>C (p.Glu1249Gln) c.3742G>C (p.Glu1248Gln) c.2053G>C (p.Glu685Gln) | |
| 1 | g.99910804G= | CA1183941677 | AGL | c.3793G= (p.Glu1265=) n.4004G= c.3745G= (p.Glu1249=) c.3742G= (p.Glu1248=) c.2053G= (p.Glu685=) | |
| 1 | g.99910804G>T | CA341337903 | AGL | c.3793G>T (p.Glu1265Ter) n.4004G>T c.3745G>T (p.Glu1249Ter) c.3742G>T (p.Glu1248Ter) c.2053G>T (p.Glu685Ter) | ClinVar dbSNP |
| 1 | g.99910805A>C | CA341337905 | AGL | c.3794A>C (p.Glu1265Ala) n.4005A>C c.3746A>C (p.Glu1249Ala) c.3743A>C (p.Glu1248Ala) c.2054A>C (p.Glu685Ala) | |
| 1 | g.99910805A>G | CA341337908 | AGL | c.3794A>G (p.Glu1265Gly) n.4005A>G c.3746A>G (p.Glu1249Gly) c.3743A>G (p.Glu1248Gly) c.2054A>G (p.Glu685Gly) | |
| 1 | g.99910805A>T | CA341337910 | AGL | c.3794A>T (p.Glu1265Val) n.4005A>T c.3746A>T (p.Glu1249Val) c.3743A>T (p.Glu1248Val) c.2054A>T (p.Glu685Val) | |
| 1 | g.99910807del | CA419091387 | AGL | c.3796del (p.Ser1266ValfsTer24) n.4007del c.3748del (p.Ser1250ValfsTer24) c.3745del (p.Ser1249ValfsTer24) c.2056del (p.Ser686ValfsTer24) | COSMIC COSMIC |
| 1 | g.99910806A>C | CA341337912 | AGL | c.3795A>C (p.Glu1265Asp) n.4006A>C c.3747A>C (p.Glu1249Asp) c.3744A>C (p.Glu1248Asp) c.2055A>C (p.Glu685Asp) | |
| 1 | g.99910806A>G | CA419091393 | AGL | c.3795A>G (p.Glu1265=) n.4006A>G c.3747A>G (p.Glu1249=) c.3744A>G (p.Glu1248=) c.2055A>G (p.Glu685=) | COSMIC COSMIC |
| 1 | g.99910806A>T | CA341337919 | AGL | c.3795A>T (p.Glu1265Asp) n.4006A>T c.3747A>T (p.Glu1249Asp) c.3744A>T (p.Glu1248Asp) c.2055A>T (p.Glu685Asp) | |
| 1 | g.99910807A= | CA1183941680 | AGL | c.3796A= (p.Ser1266=) n.4007A= c.3748A= (p.Ser1250=) c.3745A= (p.Ser1249=) c.2056A= (p.Ser686=) | |
| 1 | g.99910807A>C | CA341337925 | AGL | c.3796A>C (p.Ser1266Arg) n.4007A>C c.3748A>C (p.Ser1250Arg) c.3745A>C (p.Ser1249Arg) c.2056A>C (p.Ser686Arg) | |
| 1 | g.99910807A>G | CA27553542 | AGL | c.3796A>G (p.Ser1266Gly) n.4007A>G c.3748A>G (p.Ser1250Gly) c.3745A>G (p.Ser1249Gly) c.2056A>G (p.Ser686Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910807A>T | CA341337933 | AGL | c.3796A>T (p.Ser1266Cys) n.4007A>T c.3748A>T (p.Ser1250Cys) c.3745A>T (p.Ser1249Cys) c.2056A>T (p.Ser686Cys) | |
| 1 | g.99910808G>A | CA341337935 | AGL | c.3797G>A (p.Ser1266Asn) n.4008G>A c.3749G>A (p.Ser1250Asn) c.3746G>A (p.Ser1249Asn) c.2057G>A (p.Ser686Asn) | dbSNP |
| 1 | g.99910808G>C | CA341337936 | AGL | c.3797G>C (p.Ser1266Thr) n.4008G>C c.3749G>C (p.Ser1250Thr) c.3746G>C (p.Ser1249Thr) c.2057G>C (p.Ser686Thr) | |
| 1 | g.99910808G= | CA1183941682 | AGL | c.3797G= (p.Ser1266=) n.4008G= c.3749G= (p.Ser1250=) c.3746G= (p.Ser1249=) c.2057G= (p.Ser686=) | |
| 1 | g.99910808G>T | CA341337937 | AGL | c.3797G>T (p.Ser1266Ile) n.4008G>T c.3749G>T (p.Ser1250Ile) c.3746G>T (p.Ser1249Ile) c.2057G>T (p.Ser686Ile) | |
| 1 | g.99910809T>A | CA341337942 | AGL | c.3798T>A (p.Ser1266Arg) n.4009T>A c.3750T>A (p.Ser1250Arg) c.3747T>A (p.Ser1249Arg) c.2058T>A (p.Ser686Arg) | |
| 1 | g.99910809T>C | CA419091408 | AGL | c.3798T>C (p.Ser1266=) n.4009T>C c.3750T>C (p.Ser1250=) c.3747T>C (p.Ser1249=) c.2058T>C (p.Ser686=) | ClinVar |
| 1 | g.99910809T>G | CA341337945 | AGL | c.3798T>G (p.Ser1266Arg) n.4009T>G c.3750T>G (p.Ser1250Arg) c.3747T>G (p.Ser1249Arg) c.2058T>G (p.Ser686Arg) | |
| 1 | g.99910810G>A | CA341337949 | AGL | c.3799G>A (p.Asp1267Asn) n.4010G>A c.3751G>A (p.Asp1251Asn) c.3748G>A (p.Asp1250Asn) c.2059G>A (p.Asp687Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910810G>C | CA341337951 | AGL | c.3799G>C (p.Asp1267His) n.4010G>C c.3751G>C (p.Asp1251His) c.3748G>C (p.Asp1250His) c.2059G>C (p.Asp687His) | |
| 1 | g.99910810G= | CA1183941683 | AGL | c.3799G= (p.Asp1267=) n.4010G= c.3751G= (p.Asp1251=) c.3748G= (p.Asp1250=) c.2059G= (p.Asp687=) | |
| 1 | g.99910810G>T | CA341337952 | AGL | c.3799G>T (p.Asp1267Tyr) n.4010G>T c.3751G>T (p.Asp1251Tyr) c.3748G>T (p.Asp1250Tyr) c.2059G>T (p.Asp687Tyr) | |
| 1 | g.99910811A>C | CA341337953 | AGL | c.3800A>C (p.Asp1267Ala) n.4011A>C c.3752A>C (p.Asp1251Ala) c.3749A>C (p.Asp1250Ala) c.2060A>C (p.Asp687Ala) | |
| 1 | g.99910811A>G | CA341337954 | AGL | c.3800A>G (p.Asp1267Gly) n.4011A>G c.3752A>G (p.Asp1251Gly) c.3749A>G (p.Asp1250Gly) c.2060A>G (p.Asp687Gly) | |
| 1 | g.99910811A>T | CA341337955 | AGL | c.3800A>T (p.Asp1267Val) n.4011A>T c.3752A>T (p.Asp1251Val) c.3749A>T (p.Asp1250Val) c.2060A>T (p.Asp687Val) | |
| 1 | g.99910812C>A | CA341337957 | AGL | c.3801C>A (p.Asp1267Glu) n.4012C>A c.3753C>A (p.Asp1251Glu) c.3750C>A (p.Asp1250Glu) c.2061C>A (p.Asp687Glu) | |
| 1 | g.99910812C>G | CA341337958 | AGL | c.3801C>G (p.Asp1267Glu) n.4012C>G c.3753C>G (p.Asp1251Glu) c.3750C>G (p.Asp1250Glu) c.2061C>G (p.Asp687Glu) | |
| 1 | g.99910812C>T | CA419091424 | AGL | c.3801C>T (p.Asp1267=) n.4012C>T c.3753C>T (p.Asp1251=) c.3750C>T (p.Asp1250=) c.2061C>T (p.Asp687=) | |
| 1 | g.99910813A= | CA1183941685 | AGL | c.3802A= (p.Arg1268=) n.4013A= c.3754A= (p.Arg1252=) c.3751A= (p.Arg1251=) c.2062A= (p.Arg688=) | |
| 1 | g.99910813A>C | CA419091426 | AGL | c.3802A>C (p.Arg1268=) n.4013A>C c.3754A>C (p.Arg1252=) c.3751A>C (p.Arg1251=) c.2062A>C (p.Arg688=) | |
| 1 | g.99910813A>G | CA341337960 | AGL | c.3802A>G (p.Arg1268Gly) n.4013A>G c.3754A>G (p.Arg1252Gly) c.3751A>G (p.Arg1251Gly) c.2062A>G (p.Arg688Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99910813A>T | CA341337961 | AGL | c.3802A>T (p.Arg1268Ter) n.4013A>T c.3754A>T (p.Arg1252Ter) c.3751A>T (p.Arg1251Ter) c.2062A>T (p.Arg688Ter) | |
| 1 | g.99910815_99910816del | CA2646738703 | AGL | c.3804_3805del (p.Arg1268SerfsTer2) n.4015_4016del c.3756_3757del (p.Arg1252SerfsTer2) c.3753_3754del (p.Arg1251SerfsTer2) c.2064_2065del (p.Arg688SerfsTer2) | gnomAD v4 |
| 1 | g.99910814G>A | CA341337964 | AGL | c.3803G>A (p.Arg1268Lys) n.4014G>A c.3755G>A (p.Arg1252Lys) c.3752G>A (p.Arg1251Lys) c.2063G>A (p.Arg688Lys) | |
| 1 | g.99910814G>C | CA341337965 | AGL | c.3803G>C (p.Arg1268Thr) n.4014G>C c.3755G>C (p.Arg1252Thr) c.3752G>C (p.Arg1251Thr) c.2063G>C (p.Arg688Thr) | |
| 1 | g.99910814G>T | CA341337967 | AGL | c.3803G>T (p.Arg1268Ile) n.4014G>T c.3755G>T (p.Arg1252Ile) c.3752G>T (p.Arg1251Ile) c.2063G>T (p.Arg688Ile) |