UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 1 | g.99910815A>C | CA341337970 | AGL | c.3804A>C (p.Arg1268Ser) n.4015A>C c.3756A>C (p.Arg1252Ser) c.3753A>C (p.Arg1251Ser) c.2064A>C (p.Arg688Ser) | |
| 1 | g.99910815A>G | CA419091439 | AGL | c.3804A>G (p.Arg1268=) n.4015A>G c.3756A>G (p.Arg1252=) c.3753A>G (p.Arg1251=) c.2064A>G (p.Arg688=) | COSMIC COSMIC |
| 1 | g.99910815A>T | CA341337972 | AGL | c.3804A>T (p.Arg1268Ser) n.4015A>T c.3756A>T (p.Arg1252Ser) c.3753A>T (p.Arg1251Ser) c.2064A>T (p.Arg688Ser) | |
| 1 | g.99910816G>A | CA341337975 | AGL | c.3805G>A (p.Ala1269Thr) n.4016G>A c.3757G>A (p.Ala1253Thr) c.3754G>A (p.Ala1252Thr) c.2065G>A (p.Ala689Thr) | ClinVar gnomAD v4 |
| 1 | g.99910816G>C | CA341337976 | AGL | c.3805G>C (p.Ala1269Pro) n.4016G>C c.3757G>C (p.Ala1253Pro) c.3754G>C (p.Ala1252Pro) c.2065G>C (p.Ala689Pro) | |
| 1 | g.99910816G>T | CA341337978 | AGL | c.3805G>T (p.Ala1269Ser) n.4016G>T c.3757G>T (p.Ala1253Ser) c.3754G>T (p.Ala1252Ser) c.2065G>T (p.Ala689Ser) | gnomAD v4 |
| 1 | g.99910817C>A | CA341337980 | AGL | c.3806C>A (p.Ala1269Asp) n.4017C>A c.3758C>A (p.Ala1253Asp) c.3755C>A (p.Ala1252Asp) c.2066C>A (p.Ala689Asp) | |
| 1 | g.99910817C= | CA1183941687 | AGL | c.3806C= (p.Ala1269=) n.4017C= c.3758C= (p.Ala1253=) c.3755C= (p.Ala1252=) c.2066C= (p.Ala689=) | |
| 1 | g.99910817C>G | CA341337982 | AGL | c.3806C>G (p.Ala1269Gly) n.4017C>G c.3758C>G (p.Ala1253Gly) c.3755C>G (p.Ala1252Gly) c.2066C>G (p.Ala689Gly) | |
| 1 | g.99910817C>T | CA341337984 | AGL | c.3806C>T (p.Ala1269Val) n.4017C>T c.3758C>T (p.Ala1253Val) c.3755C>T (p.Ala1252Val) c.2066C>T (p.Ala689Val) | gnomAD v4 |
| 1 | g.99910818T>A | CA419091451 | AGL | c.3807T>A (p.Ala1269=) n.4018T>A c.3759T>A (p.Ala1253=) c.3756T>A (p.Ala1252=) c.2067T>A (p.Ala689=) | dbSNP |
| 1 | g.99910818T>C | CA419091452 | AGL | c.3807T>C (p.Ala1269=) n.4018T>C c.3759T>C (p.Ala1253=) c.3756T>C (p.Ala1252=) c.2067T>C (p.Ala689=) | |
| 1 | g.99910818T>G | CA419091454 | AGL | c.3807T>G (p.Ala1269=) n.4018T>G c.3759T>G (p.Ala1253=) c.3756T>G (p.Ala1252=) c.2067T>G (p.Ala689=) | |
| 1 | g.99910818T= | CA1183941688 | AGL | c.3807T= (p.Ala1269=) n.4018T= c.3759T= (p.Ala1253=) c.3756T= (p.Ala1252=) c.2067T= (p.Ala689=) | |
| 1 | g.99910818dup | CA16040845 | AGL | c.3807dup (p.Arg1270Ter) n.4018dup c.3759dup (p.Arg1254Ter) c.3756dup (p.Arg1253Ter) c.2067dup (p.Arg690Ter) | ClinVar dbSNP |
| 1 | g.99910819A>C | CA419091457 | AGL | c.3808A>C (p.Arg1270=) n.4019A>C c.3760A>C (p.Arg1254=) c.3757A>C (p.Arg1253=) c.2068A>C (p.Arg690=) | |
| 1 | g.99910819A>G | CA341337985 | AGL | c.3808A>G (p.Arg1270Gly) n.4019A>G c.3760A>G (p.Arg1254Gly) c.3757A>G (p.Arg1253Gly) c.2068A>G (p.Arg690Gly) | |
| 1 | g.99910819A>T | CA341337986 | AGL | c.3808A>T (p.Arg1270Ter) n.4019A>T c.3760A>T (p.Arg1254Ter) c.3757A>T (p.Arg1253Ter) c.2068A>T (p.Arg690Ter) | |
| 1 | g.99910820G>A | CA341337987 | AGL | c.3809G>A (p.Arg1270Lys) n.4020G>A c.3761G>A (p.Arg1254Lys) c.3758G>A (p.Arg1253Lys) c.2069G>A (p.Arg690Lys) | dbSNP |
| 1 | g.99910820G>C | CA341337988 | AGL | c.3809G>C (p.Arg1270Thr) n.4020G>C c.3761G>C (p.Arg1254Thr) c.3758G>C (p.Arg1253Thr) c.2069G>C (p.Arg690Thr) | gnomAD v4 |
| 1 | g.99910820G= | CA1183941689 | AGL | c.3809G= (p.Arg1270=) n.4020G= c.3761G= (p.Arg1254=) c.3758G= (p.Arg1253=) c.2069G= (p.Arg690=) | |
| 1 | g.99910820G>T | CA341337990 | AGL | c.3809G>T (p.Arg1270Ile) n.4020G>T c.3761G>T (p.Arg1254Ile) c.3758G>T (p.Arg1253Ile) c.2069G>T (p.Arg690Ile) | |
| 1 | g.99910821A>C | CA341337992 | AGL | c.3810A>C (p.Arg1270Ser) n.4021A>C c.3762A>C (p.Arg1254Ser) c.3759A>C (p.Arg1253Ser) c.2070A>C (p.Arg690Ser) | |
| 1 | g.99910821A>G | CA419091462 | AGL | c.3810A>G (p.Arg1270=) n.4021A>G c.3762A>G (p.Arg1254=) c.3759A>G (p.Arg1253=) c.2070A>G (p.Arg690=) | |
| 1 | g.99910821A>T | CA341337994 | AGL | c.3810A>T (p.Arg1270Ser) n.4021A>T c.3762A>T (p.Arg1254Ser) c.3759A>T (p.Arg1253Ser) c.2070A>T (p.Arg690Ser) | |
| 1 | g.99910822A= | CA1183941690 | AGL | c.3811A= (p.Asn1271=) n.4022A= c.3763A= (p.Asn1255=) c.3760A= (p.Asn1254=) c.2071A= (p.Asn691=) | |
| 1 | g.99910822A>C | CA341338000 | AGL | c.3811A>C (p.Asn1271His) n.4022A>C c.3763A>C (p.Asn1255His) c.3760A>C (p.Asn1254His) c.2071A>C (p.Asn691His) | |
| 1 | g.99910822A>G | CA341337996 | AGL | c.3811A>G (p.Asn1271Asp) n.4022A>G c.3763A>G (p.Asn1255Asp) c.3760A>G (p.Asn1254Asp) c.2071A>G (p.Asn691Asp) | |
| 1 | g.99910822A>T | CA341337998 | AGL | c.3811A>T (p.Asn1271Tyr) n.4022A>T c.3763A>T (p.Asn1255Tyr) c.3760A>T (p.Asn1254Tyr) c.2071A>T (p.Asn691Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910823A= | CA1183941692 | AGL | c.3812A= (p.Asn1271=) n.4023A= c.3764A= (p.Asn1255=) c.3761A= (p.Asn1254=) c.2072A= (p.Asn691=) | |
| 1 | g.99910823A>C | CA341338002 | AGL | c.3812A>C (p.Asn1271Thr) n.4023A>C c.3764A>C (p.Asn1255Thr) c.3761A>C (p.Asn1254Thr) c.2072A>C (p.Asn691Thr) | |
| 1 | g.99910823A>G | CA27553557 | AGL | c.3812A>G (p.Asn1271Ser) n.4023A>G c.3764A>G (p.Asn1255Ser) c.3761A>G (p.Asn1254Ser) c.2072A>G (p.Asn691Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99910823A>T | CA341338006 | AGL | c.3812A>T (p.Asn1271Ile) n.4023A>T c.3764A>T (p.Asn1255Ile) c.3761A>T (p.Asn1254Ile) c.2072A>T (p.Asn691Ile) | |
| 1 | g.99910824C>A | CA341338008 | AGL | c.3813C>A (p.Asn1271Lys) n.4024C>A c.3765C>A (p.Asn1255Lys) c.3762C>A (p.Asn1254Lys) c.2073C>A (p.Asn691Lys) | |
| 1 | g.99910824C>G | CA341338010 | AGL | c.3813C>G (p.Asn1271Lys) n.4024C>G c.3765C>G (p.Asn1255Lys) c.3762C>G (p.Asn1254Lys) c.2073C>G (p.Asn691Lys) | |
| 1 | g.99910824C>T | CA419091478 | AGL | c.3813C>T (p.Asn1271=) n.4024C>T c.3765C>T (p.Asn1255=) c.3762C>T (p.Asn1254=) c.2073C>T (p.Asn691=) | |
| 1 | g.99910824_99910826delinsCAG | CA1183941694 | AGL | c.3813_3815delinsCAG (p.Asn1271=) n.4024_4026delinsCAG c.3765_3767delinsCAG (p.Asn1255=) c.3762_3764delinsCAG (p.Asn1254=) c.2073_2075delinsCAG (p.Asn691=) | |
| 1 | g.99910825A>C | CA419091487 | AGL | c.3814A>C (p.Arg1272=) n.4025A>C c.3766A>C (p.Arg1256=) c.3763A>C (p.Arg1255=) c.2074A>C (p.Arg692=) | |
| 1 | g.99910825A>G | CA341338014 | AGL | c.3814A>G (p.Arg1272Gly) n.4025A>G c.3766A>G (p.Arg1256Gly) c.3763A>G (p.Arg1255Gly) c.2074A>G (p.Arg692Gly) | |
| 1 | g.99910825A>T | CA341338015 | AGL | c.3814A>T (p.Arg1272Ter) n.4025A>T c.3766A>T (p.Arg1256Ter) c.3763A>T (p.Arg1255Ter) c.2074A>T (p.Arg692Ter) | |
| 1 | g.99910827_99910828del | CA16040846 | AGL | c.3816_3817del (p.Gly1273AsnfsTer18) n.4027_4028del c.3768_3769del (p.Gly1257AsnfsTer18) c.3765_3766del (p.Gly1256AsnfsTer18) c.2076_2077del (p.Gly693AsnfsTer18) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99910826G>A | CA341338018 | AGL | c.3815G>A (p.Arg1272Lys) n.4026G>A c.3767G>A (p.Arg1256Lys) c.3764G>A (p.Arg1255Lys) c.2075G>A (p.Arg692Lys) | |
| 1 | g.99910826G>C | CA341338020 | AGL | c.3815G>C (p.Arg1272Thr) n.4026G>C c.3767G>C (p.Arg1256Thr) c.3764G>C (p.Arg1255Thr) c.2075G>C (p.Arg692Thr) | |
| 1 | g.99910826G>T | CA341338022 | AGL | c.3815G>T (p.Arg1272Ile) n.4026G>T c.3767G>T (p.Arg1256Ile) c.3764G>T (p.Arg1255Ile) c.2075G>T (p.Arg692Ile) | gnomAD v4 |
| 1 | g.99910827A>C | CA341338025 | AGL | c.3816A>C (p.Arg1272Ser) n.4027A>C c.3768A>C (p.Arg1256Ser) c.3765A>C (p.Arg1255Ser) c.2076A>C (p.Arg692Ser) | |
| 1 | g.99910827A>G | CA419091497 | AGL | c.3816A>G (p.Arg1272=) n.4027A>G c.3768A>G (p.Arg1256=) c.3765A>G (p.Arg1255=) c.2076A>G (p.Arg692=) | |
| 1 | g.99910827A>T | CA341338024 | AGL | c.3816A>T (p.Arg1272Ser) n.4027A>T c.3768A>T (p.Arg1256Ser) c.3765A>T (p.Arg1255Ser) c.2076A>T (p.Arg692Ser) | |
| 1 | g.99910828G>A | CA341338026 | AGL | c.3817G>A (p.Gly1273Arg) n.4028G>A c.3769G>A (p.Gly1257Arg) c.3766G>A (p.Gly1256Arg) c.2077G>A (p.Gly693Arg) | COSMIC COSMIC |
| 1 | g.99910828G>C | CA341338028 | AGL | c.3817G>C (p.Gly1273Arg) n.4028G>C c.3769G>C (p.Gly1257Arg) c.3766G>C (p.Gly1256Arg) c.2077G>C (p.Gly693Arg) | |
| 1 | g.99910828G>T | CA341338027 | AGL | c.3817G>T (p.Gly1273Ter) n.4028G>T c.3769G>T (p.Gly1257Ter) c.3766G>T (p.Gly1256Ter) c.2077G>T (p.Gly693Ter) | |
| 1 | g.99910829G>A | CA967216 | AGL | c.3818G>A (p.Gly1273Glu) n.4029G>A c.3770G>A (p.Gly1257Glu) c.3767G>A (p.Gly1256Glu) c.2078G>A (p.Gly693Glu) | dbSNP ExAC gnomAD v4 |
| 1 | g.99910829G>C | CA341338034 | AGL | c.3818G>C (p.Gly1273Ala) n.4029G>C c.3770G>C (p.Gly1257Ala) c.3767G>C (p.Gly1256Ala) c.2078G>C (p.Gly693Ala) | |
| 1 | g.99910829G= | CA1183941697 | AGL | c.3818G= (p.Gly1273=) n.4029G= c.3770G= (p.Gly1257=) c.3767G= (p.Gly1256=) c.2078G= (p.Gly693=) | |
| 1 | g.99910829G>T | CA27553576 | AGL | c.3818G>T (p.Gly1273Val) n.4029G>T c.3770G>T (p.Gly1257Val) c.3767G>T (p.Gly1256Val) c.2078G>T (p.Gly693Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99910830A>C | CA419091509 | AGL | c.3819A>C (p.Gly1273=) n.4030A>C c.3771A>C (p.Gly1257=) c.3768A>C (p.Gly1256=) c.2079A>C (p.Gly693=) | |
| 1 | g.99910830A>G | CA419091507 | AGL | c.3819A>G (p.Gly1273=) n.4030A>G c.3771A>G (p.Gly1257=) c.3768A>G (p.Gly1256=) c.2079A>G (p.Gly693=) | |
| 1 | g.99910830A>T | CA419091508 | AGL | c.3819A>T (p.Gly1273=) n.4030A>T c.3771A>T (p.Gly1257=) c.3768A>T (p.Gly1256=) c.2079A>T (p.Gly693=) | |
| 1 | g.99910831A= | CA1183941698 | AGL | c.3820A= (p.Ile1274=) n.4031A= c.3772A= (p.Ile1258=) c.3769A= (p.Ile1257=) c.2080A= (p.Ile694=) | |
| 1 | g.99910831A>C | CA341338036 | AGL | c.3820A>C (p.Ile1274Leu) n.4031A>C c.3772A>C (p.Ile1258Leu) c.3769A>C (p.Ile1257Leu) c.2080A>C (p.Ile694Leu) | dbSNP gnomAD v2 |
| 1 | g.99910831A>G | CA341338039 | AGL | c.3820A>G (p.Ile1274Val) n.4031A>G c.3772A>G (p.Ile1258Val) c.3769A>G (p.Ile1257Val) c.2080A>G (p.Ile694Val) | |
| 1 | g.99910831A>T | CA341338037 | AGL | c.3820A>T (p.Ile1274Phe) n.4031A>T c.3772A>T (p.Ile1258Phe) c.3769A>T (p.Ile1257Phe) c.2080A>T (p.Ile694Phe) | |
| 1 | g.99910832T>A | CA341338041 | AGL | c.3821T>A (p.Ile1274Asn) n.4032T>A c.3773T>A (p.Ile1258Asn) c.3770T>A (p.Ile1257Asn) c.2081T>A (p.Ile694Asn) | |
| 1 | g.99910832T>C | CA967217 | AGL | c.3821T>C (p.Ile1274Thr) n.4032T>C c.3773T>C (p.Ile1258Thr) c.3770T>C (p.Ile1257Thr) c.2081T>C (p.Ile694Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910832T>G | CA341338043 | AGL | c.3821T>G (p.Ile1274Ser) n.4032T>G c.3773T>G (p.Ile1258Ser) c.3770T>G (p.Ile1257Ser) c.2081T>G (p.Ile694Ser) | |
| 1 | g.99910832T= | CA1183941700 | AGL | c.3821T= (p.Ile1274=) n.4032T= c.3773T= (p.Ile1258=) c.3770T= (p.Ile1257=) c.2081T= (p.Ile694=) | |
| 1 | g.99910833C>A | CA419091531 | AGL | c.3822C>A (p.Ile1274=) n.4033C>A c.3774C>A (p.Ile1258=) c.3771C>A (p.Ile1257=) c.2082C>A (p.Ile694=) | |
| 1 | g.99910833C= | CA1141957133 | AGL | c.3822C= (p.Ile1274=) n.4033C= c.3774C= (p.Ile1258=) c.3771C= (p.Ile1257=) c.2082C= (p.Ile694=) | |
| 1 | g.99910833C>G | CA341338054 | AGL | c.3822C>G (p.Ile1274Met) n.4033C>G c.3774C>G (p.Ile1258Met) c.3771C>G (p.Ile1257Met) c.2082C>G (p.Ile694Met) | |
| 1 | g.99910833C>T | CA967218 | AGL | c.3822C>T (p.Ile1274=) n.4033C>T c.3774C>T (p.Ile1258=) c.3771C>T (p.Ile1257=) c.2082C>T (p.Ile694=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910834C>A | CA341338064 | AGL | c.3823C>A (p.Pro1275Thr) n.4034C>A c.3775C>A (p.Pro1259Thr) c.3772C>A (p.Pro1258Thr) c.2083C>A (p.Pro695Thr) | |
| 1 | g.99910834C>G | CA341338065 | AGL | c.3823C>G (p.Pro1275Ala) n.4034C>G c.3775C>G (p.Pro1259Ala) c.3772C>G (p.Pro1258Ala) c.2083C>G (p.Pro695Ala) | |
| 1 | g.99910834C>T | CA341338067 | AGL | c.3823C>T (p.Pro1275Ser) n.4034C>T c.3775C>T (p.Pro1259Ser) c.3772C>T (p.Pro1258Ser) c.2083C>T (p.Pro695Ser) | |
| 1 | g.99910835C>A | CA341338068 | AGL | c.3824C>A (p.Pro1275Gln) n.4035C>A c.3776C>A (p.Pro1259Gln) c.3773C>A (p.Pro1258Gln) c.2084C>A (p.Pro695Gln) | |
| 1 | g.99910835C= | CA1183941703 | AGL | c.3824C= (p.Pro1275=) n.4035C= c.3776C= (p.Pro1259=) c.3773C= (p.Pro1258=) c.2084C= (p.Pro695=) | |
| 1 | g.99910835C>G | CA341338070 | AGL | c.3824C>G (p.Pro1275Arg) n.4035C>G c.3776C>G (p.Pro1259Arg) c.3773C>G (p.Pro1258Arg) c.2084C>G (p.Pro695Arg) | |
| 1 | g.99910835C>T | CA967219 | AGL | c.3824C>T (p.Pro1275Leu) n.4035C>T c.3776C>T (p.Pro1259Leu) c.3773C>T (p.Pro1258Leu) c.2084C>T (p.Pro695Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910836A>C | CA419091553 | AGL | c.3825A>C (p.Pro1275=) n.4036A>C c.3777A>C (p.Pro1259=) c.3774A>C (p.Pro1258=) c.2085A>C (p.Pro695=) | |
| 1 | g.99910836A>G | CA419091551 | AGL | c.3825A>G (p.Pro1275=) n.4036A>G c.3777A>G (p.Pro1259=) c.3774A>G (p.Pro1258=) c.2085A>G (p.Pro695=) | |
| 1 | g.99910836A>T | CA419091554 | AGL | c.3825A>T (p.Pro1275=) n.4036A>T c.3777A>T (p.Pro1259=) c.3774A>T (p.Pro1258=) c.2085A>T (p.Pro695=) | |
| 1 | g.99910837G>A | CA341338072 | AGL | c.3826G>A (p.Ala1276Thr) n.4037G>A c.3778G>A (p.Ala1260Thr) c.3775G>A (p.Ala1259Thr) c.2086G>A (p.Ala696Thr) | |
| 1 | g.99910837G>C | CA341338073 | AGL | c.3826G>C (p.Ala1276Pro) n.4037G>C c.3778G>C (p.Ala1260Pro) c.3775G>C (p.Ala1259Pro) c.2086G>C (p.Ala696Pro) | |
| 1 | g.99910837G>T | CA341338074 | AGL | c.3826G>T (p.Ala1276Ser) n.4037G>T c.3778G>T (p.Ala1260Ser) c.3775G>T (p.Ala1259Ser) c.2086G>T (p.Ala696Ser) | COSMIC |
| 1 | g.99910838C>A | CA341338079 | AGL | c.3827C>A (p.Ala1276Asp) n.4038C>A c.3779C>A (p.Ala1260Asp) c.3776C>A (p.Ala1259Asp) c.2087C>A (p.Ala696Asp) | |
| 1 | g.99910838C>G | CA341338078 | AGL | c.3827C>G (p.Ala1276Gly) n.4038C>G c.3779C>G (p.Ala1260Gly) c.3776C>G (p.Ala1259Gly) c.2087C>G (p.Ala696Gly) | |
| 1 | g.99910838C>T | CA341338076 | AGL | c.3827C>T (p.Ala1276Val) n.4038C>T c.3779C>T (p.Ala1260Val) c.3776C>T (p.Ala1259Val) c.2087C>T (p.Ala696Val) | |
| 1 | g.99910839C>A | CA419091571 | AGL | c.3828C>A (p.Ala1276=) n.4039C>A c.3780C>A (p.Ala1260=) c.3777C>A (p.Ala1259=) c.2088C>A (p.Ala696=) | |
| 1 | g.99910839C>G | CA419091574 | AGL | c.3828C>G (p.Ala1276=) n.4039C>G c.3780C>G (p.Ala1260=) c.3777C>G (p.Ala1259=) c.2088C>G (p.Ala696=) | |
| 1 | g.99910839C>T | CA419091575 | AGL | c.3828C>T (p.Ala1276=) n.4039C>T c.3780C>T (p.Ala1260=) c.3777C>T (p.Ala1259=) c.2088C>T (p.Ala696=) | |
| 1 | g.99910840A>C | CA341338080 | AGL | c.3829A>C (p.Thr1277Pro) n.4040A>C c.3781A>C (p.Thr1261Pro) c.3778A>C (p.Thr1260Pro) c.2089A>C (p.Thr697Pro) | |
| 1 | g.99910840A>G | CA341338081 | AGL | c.3829A>G (p.Thr1277Ala) n.4040A>G c.3781A>G (p.Thr1261Ala) c.3778A>G (p.Thr1260Ala) c.2089A>G (p.Thr697Ala) | gnomAD v4 |
| 1 | g.99910840A>T | CA341338083 | AGL | c.3829A>T (p.Thr1277Ser) n.4040A>T c.3781A>T (p.Thr1261Ser) c.3778A>T (p.Thr1260Ser) c.2089A>T (p.Thr697Ser) | |
| 1 | g.99910841C>A | CA341338084 | AGL | c.3830C>A (p.Thr1277Lys) n.4041C>A c.3782C>A (p.Thr1261Lys) c.3779C>A (p.Thr1260Lys) c.2090C>A (p.Thr697Lys) | |
| 1 | g.99910841C= | CA1183941704 | AGL | c.3830C= (p.Thr1277=) n.4041C= c.3782C= (p.Thr1261=) c.3779C= (p.Thr1260=) c.2090C= (p.Thr697=) | |
| 1 | g.99910841C>G | CA341338086 | AGL | c.3830C>G (p.Thr1277Arg) n.4041C>G c.3782C>G (p.Thr1261Arg) c.3779C>G (p.Thr1260Arg) c.2090C>G (p.Thr697Arg) | |
| 1 | g.99910841C>T | CA967220 | AGL | c.3830C>T (p.Thr1277Ile) n.4041C>T c.3782C>T (p.Thr1261Ile) c.3779C>T (p.Thr1260Ile) c.2090C>T (p.Thr697Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99910842A>C | CA419091583 | AGL | c.3831A>C (p.Thr1277=) n.4042A>C c.3783A>C (p.Thr1261=) c.3780A>C (p.Thr1260=) c.2091A>C (p.Thr697=) | |
| 1 | g.99910842A>G | CA419091585 | AGL | c.3831A>G (p.Thr1277=) n.4042A>G c.3783A>G (p.Thr1261=) c.3780A>G (p.Thr1260=) c.2091A>G (p.Thr697=) | |
| 1 | g.99910842A>T | CA419091587 | AGL | c.3831A>T (p.Thr1277=) n.4042A>T c.3783A>T (p.Thr1261=) c.3780A>T (p.Thr1260=) c.2091A>T (p.Thr697=) | gnomAD v4 |
| 1 | g.99910843C>A | CA341338088 | AGL | c.3832C>A (p.Pro1278Thr) n.4043C>A c.3784C>A (p.Pro1262Thr) c.3781C>A (p.Pro1261Thr) c.2092C>A (p.Pro698Thr) | |
| 1 | g.99910843C= | CA1183941705 | AGL | c.3832C= (p.Pro1278=) n.4043C= c.3784C= (p.Pro1262=) c.3781C= (p.Pro1261=) c.2092C= (p.Pro698=) | |
| 1 | g.99910843C>G | CA341338089 | AGL | c.3832C>G (p.Pro1278Ala) n.4043C>G c.3784C>G (p.Pro1262Ala) c.3781C>G (p.Pro1261Ala) c.2092C>G (p.Pro698Ala) | |
| 1 | g.99910843C>T | CA967221 | AGL | c.3832C>T (p.Pro1278Ser) n.4043C>T c.3784C>T (p.Pro1262Ser) c.3781C>T (p.Pro1261Ser) c.2092C>T (p.Pro698Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910844C>A | CA341338091 | AGL | c.3833C>A (p.Pro1278Gln) n.4044C>A c.3785C>A (p.Pro1262Gln) c.3782C>A (p.Pro1261Gln) c.2093C>A (p.Pro698Gln) | |
| 1 | g.99910844C= | CA1183941706 | AGL | c.3833C= (p.Pro1278=) n.4044C= c.3785C= (p.Pro1262=) c.3782C= (p.Pro1261=) c.2093C= (p.Pro698=) | |
| 1 | g.99910844C>G | CA341338092 | AGL | c.3833C>G (p.Pro1278Arg) n.4044C>G c.3785C>G (p.Pro1262Arg) c.3782C>G (p.Pro1261Arg) c.2093C>G (p.Pro698Arg) | gnomAD v4 |
| 1 | g.99910844C>T | CA27553651 | AGL | c.3833C>T (p.Pro1278Leu) n.4044C>T c.3785C>T (p.Pro1262Leu) c.3782C>T (p.Pro1261Leu) c.2093C>T (p.Pro698Leu) | ClinVar dbSNP |
| 1 | g.99910845A>C | CA419091597 | AGL | c.3834A>C (p.Pro1278=) n.4045A>C c.3786A>C (p.Pro1262=) c.3783A>C (p.Pro1261=) c.2094A>C (p.Pro698=) | |
| 1 | g.99910845A>G | CA419091601 | AGL | c.3834A>G (p.Pro1278=) n.4045A>G c.3786A>G (p.Pro1262=) c.3783A>G (p.Pro1261=) c.2094A>G (p.Pro698=) | gnomAD v4 |
| 1 | g.99910845A>T | CA419091603 | AGL | c.3834A>T (p.Pro1278=) n.4045A>T c.3786A>T (p.Pro1262=) c.3783A>T (p.Pro1261=) c.2094A>T (p.Pro698=) | |
| 1 | g.99910846del | CA2586967097 | AGL | c.3835del (p.Arg1279GlufsTer11) n.4046del c.3787del (p.Arg1263GlufsTer11) c.3784del (p.Arg1262GlufsTer11) c.2095del (p.Arg699GlufsTer11) | gnomAD v4 |
| 1 | g.99910846A= | CA1183941707 | AGL | c.3835A= (p.Arg1279=) n.4046A= c.3787A= (p.Arg1263=) c.3784A= (p.Arg1262=) c.2095A= (p.Arg699=) | |
| 1 | g.99910846A>C | CA419091604 | AGL | c.3835A>C (p.Arg1279=) n.4046A>C c.3787A>C (p.Arg1263=) c.3784A>C (p.Arg1262=) c.2095A>C (p.Arg699=) | |
| 1 | g.99910846A>G | CA341338093 | AGL | c.3835A>G (p.Arg1279Gly) n.4046A>G c.3787A>G (p.Arg1263Gly) c.3784A>G (p.Arg1262Gly) c.2095A>G (p.Arg699Gly) | |
| 1 | g.99910846A>T | CA341338095 | AGL | c.3835A>T (p.Arg1279Ter) n.4046A>T c.3787A>T (p.Arg1263Ter) c.3784A>T (p.Arg1262Ter) c.2095A>T (p.Arg699Ter) | ClinVar dbSNP |
| 1 | g.99910847G>A | CA341338097 | AGL | c.3836G>A (p.Arg1279Lys) n.4047G>A c.3788G>A (p.Arg1263Lys) c.3785G>A (p.Arg1262Lys) c.2096G>A (p.Arg699Lys) | dbSNP gnomAD v4 |
| 1 | g.99910847G>C | CA341338098 | AGL | c.3836G>C (p.Arg1279Thr) n.4047G>C c.3788G>C (p.Arg1263Thr) c.3785G>C (p.Arg1262Thr) c.2096G>C (p.Arg699Thr) | |
| 1 | g.99910847G= | CA1183941709 | AGL | c.3836G= (p.Arg1279=) n.4047G= c.3788G= (p.Arg1263=) c.3785G= (p.Arg1262=) c.2096G= (p.Arg699=) | |
| 1 | g.99910847G>T | CA341338100 | AGL | c.3836G>T (p.Arg1279Ile) n.4047G>T c.3788G>T (p.Arg1263Ile) c.3785G>T (p.Arg1262Ile) c.2096G>T (p.Arg699Ile) | |
| 1 | g.99910848dup | CA913046844 | AGL | c.3836+1dup n.4047+1dup c.3788+1dup c.3785+1dup c.2096+1dup | |
| 1 | g.99910848G>A | CA967222 | AGL | c.3836+1G>A (n.3836+1G>A) n.4047+1G>A c.3788+1G>A (n.3788+1G>A) c.3785+1G>A (n.3785+1G>A) c.2096+1G>A (n.2096+1G>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.99910848G>C | CA341338102 | AGL | c.3836+1G>C (n.3836+1G>C) n.4047+1G>C c.3788+1G>C (n.3788+1G>C) c.3785+1G>C (n.3785+1G>C) c.2096+1G>C (n.2096+1G>C) | |
| 1 | g.99910848G= | CA1183941713 | AGL | c.3836+1G= (n.3836+1G=) n.4047+1G= c.3788+1G= (n.3788+1G=) c.3785+1G= (n.3785+1G=) c.2096+1G= (n.2096+1G=) | |
| 1 | g.99910848G>T | CA341338103 | AGL | c.3836+1G>T (n.3836+1G>T) n.4047+1G>T c.3788+1G>T (n.3788+1G>T) c.3785+1G>T (n.3785+1G>T) c.2096+1G>T (n.2096+1G>T) | gnomAD v4 |
| 1 | g.99910848_99910849dup | CA658821094 | AGL | c.3836+1_3836+2dup (n.3836+1_3836+2dup) n.4047+1_4047+2dup c.3788+1_3788+2dup (n.3788+1_3788+2dup) c.3785+1_3785+2dup (n.3785+1_3785+2dup) c.2096+1_2096+2dup (n.2096+1_2096+2dup) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99910849T>A | CA341338105 | AGL | c.3836+2T>A (n.3836+2T>A) n.4047+2T>A c.3788+2T>A (n.3788+2T>A) c.3785+2T>A (n.3785+2T>A) c.2096+2T>A (n.2096+2T>A) | |
| 1 | g.99910849T>C | CA967223 | AGL | c.3836+2T>C (n.3836+2T>C) n.4047+2T>C c.3788+2T>C (n.3788+2T>C) c.3785+2T>C (n.3785+2T>C) c.2096+2T>C (n.2096+2T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910849T>G | CA341338107 | AGL | c.3836+2T>G (n.3836+2T>G) n.4047+2T>G c.3788+2T>G (n.3788+2T>G) c.3785+2T>G (n.3785+2T>G) c.2096+2T>G (n.2096+2T>G) | |
| 1 | g.99910849T= | CA1143050554 | AGL | c.3836+2T= (n.3836+2T=) n.4047+2T= c.3788+2T= (n.3788+2T=) c.3785+2T= (n.3785+2T=) c.2096+2T= (n.2096+2T=) | |
| 1 | g.99910850A= | CA1143893836 | AGL | c.3836+3A= (n.3836+3A=) n.4047+3A= c.3788+3A= (n.3788+3A=) c.3785+3A= (n.3785+3A=) c.2096+3A= (n.2096+3A=) | |
| 1 | g.99910850A>G | CA967224 | AGL | c.3836+3A>G (n.3836+3A>G) n.4047+3A>G c.3788+3A>G (n.3788+3A>G) c.3785+3A>G (n.3785+3A>G) c.2096+3A>G (n.2096+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910851G>A | CA524710409 | AGL | c.3836+4G>A (n.3836+4G>A) n.4047+4G>A c.3788+4G>A (n.3788+4G>A) c.3785+4G>A (n.3785+4G>A) c.2096+4G>A (n.2096+4G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910851G= | CA1183941717 | AGL | c.3836+4G= (n.3836+4G=) n.4047+4G= c.3788+4G= (n.3788+4G=) c.3785+4G= (n.3785+4G=) c.2096+4G= (n.2096+4G=) | |
| 1 | g.99910851G>T | CA2646738704 | AGL | c.3836+4G>T (n.3836+4G>T) n.4047+4G>T c.3788+4G>T (n.3788+4G>T) c.3785+4G>T (n.3785+4G>T) c.2096+4G>T (n.2096+4G>T) | gnomAD v4 |
| 1 | g.99910852T>C | CA2646738705 | AGL | c.3836+5T>C (n.3836+5T>C) n.4047+5T>C c.3788+5T>C (n.3788+5T>C) c.3785+5T>C (n.3785+5T>C) c.2096+5T>C (n.2096+5T>C) | gnomAD v4 |
| 1 | g.99910852dup | CA2744753427 | AGL | c.3836+5dup (n.3836+5dup) n.4047+5dup c.3788+5dup (n.3788+5dup) c.3785+5dup (n.3785+5dup) c.2096+5dup (n.2096+5dup) | |
| 1 | g.99910853G>A | CA1183941720 | AGL | c.3836+6G>A (n.3836+6G>A) n.4047+6G>A c.3788+6G>A (n.3788+6G>A) c.3785+6G>A (n.3785+6G>A) c.2096+6G>A (n.2096+6G>A) | dbSNP |
| 1 | g.99910853G= | CA1183941719 | AGL | c.3836+6G= (n.3836+6G=) n.4047+6G= c.3788+6G= (n.3788+6G=) c.3785+6G= (n.3785+6G=) c.2096+6G= (n.2096+6G=) | |
| 1 | g.99910853G>T | CA524710410 | AGL | c.3836+6G>T (n.3836+6G>T) n.4047+6G>T c.3788+6G>T (n.3788+6G>T) c.3785+6G>T (n.3785+6G>T) c.2096+6G>T (n.2096+6G>T) | dbSNP gnomAD v2 |
| 1 | g.99910854T>G | CA2574444740 | AGL | c.3836+7T>G (n.3836+7T>G) n.4047+7T>G c.3788+7T>G (n.3788+7T>G) c.3785+7T>G (n.3785+7T>G) c.2096+7T>G (n.2096+7T>G) | ClinVar |
| 1 | g.99910855A>G | CA2646738706 | AGL | c.3836+8A>G (n.3836+8A>G) n.4047+8A>G c.3788+8A>G (n.3788+8A>G) c.3785+8A>G (n.3785+8A>G) c.2096+8A>G (n.2096+8A>G) | gnomAD v4 |
| 1 | g.99910856A>G | CA2696524506 | AGL | c.3836+9A>G (n.3836+9A>G) n.4047+9A>G c.3788+9A>G (n.3788+9A>G) c.3785+9A>G (n.3785+9A>G) c.2096+9A>G (n.2096+9A>G) | dbSNP |
| 1 | g.99910859G>A | CA967225 | AGL | c.3836+12G>A (n.3836+12G>A) n.4047+12G>A c.3788+12G>A (n.3788+12G>A) c.3785+12G>A (n.3785+12G>A) c.2096+12G>A (n.2096+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910859G>C | CA2646738707 | AGL | c.3836+12G>C (n.3836+12G>C) n.4047+12G>C c.3788+12G>C (n.3788+12G>C) c.3785+12G>C (n.3785+12G>C) c.2096+12G>C (n.2096+12G>C) | gnomAD v4 |
| 1 | g.99910859G= | CA1183941722 | AGL | c.3836+12G= (n.3836+12G=) n.4047+12G= c.3788+12G= (n.3788+12G=) c.3785+12G= (n.3785+12G=) c.2096+12G= (n.2096+12G=) | |
| 1 | g.99910861T>C | CA2739272454 | AGL | c.3836+14T>C (n.3836+14T>C) n.4047+14T>C c.3788+14T>C (n.3788+14T>C) c.3785+14T>C (n.3785+14T>C) c.2096+14T>C (n.2096+14T>C) | ClinVar |
| 1 | g.99910862A= | CA1183941723 | AGL | c.3836+15A= (n.3836+15A=) n.4047+15A= c.3788+15A= (n.3788+15A=) c.3785+15A= (n.3785+15A=) c.2096+15A= (n.2096+15A=) | |
| 1 | g.99910862A>G | CA741019402 | AGL | c.3836+15A>G (n.3836+15A>G) n.4047+15A>G c.3788+15A>G (n.3788+15A>G) c.3785+15A>G (n.3785+15A>G) c.2096+15A>G (n.2096+15A>G) | dbSNP |
| 1 | g.99910863T>A | CA2574444742 | AGL | c.3836+16T>A (n.3836+16T>A) n.4047+16T>A c.3788+16T>A (n.3788+16T>A) c.3785+16T>A (n.3785+16T>A) c.2096+16T>A (n.2096+16T>A) | |
| 1 | g.99910863T>C | CA2646738708 | AGL | c.3836+16T>C (n.3836+16T>C) n.4047+16T>C c.3788+16T>C (n.3788+16T>C) c.3785+16T>C (n.3785+16T>C) c.2096+16T>C (n.2096+16T>C) | ClinVar gnomAD v4 |
| 1 | g.99910864A>G | CA2574444744 | AGL | c.3836+17A>G (n.3836+17A>G) n.4047+17A>G c.3788+17A>G (n.3788+17A>G) c.3785+17A>G (n.3785+17A>G) c.2096+17A>G (n.2096+17A>G) | |
| 1 | g.99910865A= | CA1183941725 | AGL | c.3836+18A= (n.3836+18A=) n.4047+18A= c.3788+18A= (n.3788+18A=) c.3785+18A= (n.3785+18A=) c.2096+18A= (n.2096+18A=) | |
| 1 | g.99910865A>G | CA524710411 | AGL | c.3836+18A>G (n.3836+18A>G) n.4047+18A>G c.3788+18A>G (n.3788+18A>G) c.3785+18A>G (n.3785+18A>G) c.2096+18A>G (n.2096+18A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910867G>A | CA2646738709 | AGL | c.3836+20G>A (n.3836+20G>A) n.4047+20G>A c.3788+20G>A (n.3788+20G>A) c.3785+20G>A (n.3785+20G>A) c.2096+20G>A (n.2096+20G>A) | gnomAD v4 |
| 1 | g.99910867G>T | CA2646738710 | AGL | c.3836+20G>T (n.3836+20G>T) n.4047+20G>T c.3788+20G>T (n.3788+20G>T) c.3785+20G>T (n.3785+20G>T) c.2096+20G>T (n.2096+20G>T) | gnomAD v4 |
| 1 | g.99910868C>A | CA2646738711 | AGL | c.3836+21C>A (n.3836+21C>A) n.4047+21C>A c.3788+21C>A (n.3788+21C>A) c.3785+21C>A (n.3785+21C>A) c.2096+21C>A (n.2096+21C>A) | gnomAD v4 |
| 1 | g.99910868C>G | CA2646738712 | AGL | c.3836+21C>G (n.3836+21C>G) n.4047+21C>G c.3788+21C>G (n.3788+21C>G) c.3785+21C>G (n.3785+21C>G) c.2096+21C>G (n.2096+21C>G) | gnomAD v4 |
| 1 | g.99910870G>A | CA967226 | AGL | c.3836+23G>A (n.3836+23G>A) n.4047+23G>A c.3788+23G>A (n.3788+23G>A) c.3785+23G>A (n.3785+23G>A) c.2096+23G>A (n.2096+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910870G>C | CA2574444745 | AGL | c.3836+23G>C (n.3836+23G>C) n.4047+23G>C c.3788+23G>C (n.3788+23G>C) c.3785+23G>C (n.3785+23G>C) c.2096+23G>C (n.2096+23G>C) | |
| 1 | g.99910870G= | CA1144156577 | AGL | c.3836+23G= (n.3836+23G=) n.4047+23G= c.3788+23G= (n.3788+23G=) c.3785+23G= (n.3785+23G=) c.2096+23G= (n.2096+23G=) | |
| 1 | g.99910871T>A | CA2574444746 | AGL | c.3836+24T>A (n.3836+24T>A) n.4047+24T>A c.3788+24T>A (n.3788+24T>A) c.3785+24T>A (n.3785+24T>A) c.2096+24T>A (n.2096+24T>A) | |
| 1 | g.99910871_99910872insAT | CA524710412 | AGL | c.3836+24_3836+25insAT (n.3836+24_3836+25insAT) n.4047+24_4047+25insAT c.3788+24_3788+25insAT (n.3788+24_3788+25insAT) c.3785+24_3785+25insAT (n.3785+24_3785+25insAT) c.2096+24_2096+25insAT (n.2096+24_2096+25insAT) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910872G>A | CA27553691 | AGL | c.3836+25G>A (n.3836+25G>A) n.4047+25G>A c.3788+25G>A (n.3788+25G>A) c.3785+25G>A (n.3785+25G>A) c.2096+25G>A (n.2096+25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910872G= | CA1147797768 | AGL | c.3836+25G= (n.3836+25G=) n.4047+25G= c.3788+25G= (n.3788+25G=) c.3785+25G= (n.3785+25G=) c.2096+25G= (n.2096+25G=) | |
| 1 | g.99910873T>A | CA2646738713 | AGL | c.3836+26T>A (n.3836+26T>A) n.4047+26T>A c.3788+26T>A (n.3788+26T>A) c.3785+26T>A (n.3785+26T>A) c.2096+26T>A (n.2096+26T>A) | gnomAD v4 |
| 1 | g.99910878A= | CA1142540804 | AGL | c.3836+31A= (n.3836+31A=) n.4047+31A= c.3788+31A= (n.3788+31A=) c.3785+31A= (n.3785+31A=) c.2096+31A= (n.2096+31A=) | |
| 1 | g.99910878A>G | CA967227 | AGL | c.3836+31A>G (n.3836+31A>G) n.4047+31A>G c.3788+31A>G (n.3788+31A>G) c.3785+31A>G (n.3785+31A>G) c.2096+31A>G (n.2096+31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910879T>A | CA2574444748 | AGL | c.3836+32T>A (n.3836+32T>A) n.4047+32T>A c.3788+32T>A (n.3788+32T>A) c.3785+32T>A (n.3785+32T>A) c.2096+32T>A (n.2096+32T>A) | |
| 1 | g.99910880A>G | CA2533579877 | AGL | c.3836+33A>G (n.3836+33A>G) n.4047+33A>G c.3788+33A>G (n.3788+33A>G) c.3785+33A>G (n.3785+33A>G) c.2096+33A>G (n.2096+33A>G) | gnomAD v4 |
| 1 | g.99910881C>A | CA2646738715 | AGL | c.3836+34C>A (n.3836+34C>A) n.4047+34C>A c.3788+34C>A (n.3788+34C>A) c.3785+34C>A (n.3785+34C>A) c.2096+34C>A (n.2096+34C>A) | gnomAD v4 |
| 1 | g.99910881C= | CA1183941731 | AGL | c.3836+34C= (n.3836+34C=) n.4047+34C= c.3788+34C= (n.3788+34C=) c.3785+34C= (n.3785+34C=) c.2096+34C= (n.2096+34C=) | |
| 1 | g.99910881C>T | CA524710413 | AGL | c.3836+34C>T (n.3836+34C>T) n.4047+34C>T c.3788+34C>T (n.3788+34C>T) c.3785+34C>T (n.3785+34C>T) c.2096+34C>T (n.2096+34C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910883del | CA2646738714 | AGL | c.3836+36del (n.3836+36del) n.4047+36del c.3788+36del (n.3788+36del) c.3785+36del (n.3785+36del) c.2096+36del (n.2096+36del) | gnomAD v4 |
| 1 | g.99910881_99910889del | CA1004957230 | AGL | c.3836+34_3836+42del (n.3836+34_3836+42del) n.4047+34_4047+42del c.3788+34_3788+42del (n.3788+34_3788+42del) c.3785+34_3785+42del (n.3785+34_3785+42del) c.2096+34_2096+42del (n.2096+34_2096+42del) | gnomAD v3 gnomAD v4 |
| 1 | g.99910882C>A | CA2646738716 | AGL | c.3836+35C>A (n.3836+35C>A) n.4047+35C>A c.3788+35C>A (n.3788+35C>A) c.3785+35C>A (n.3785+35C>A) c.2096+35C>A (n.2096+35C>A) | gnomAD v4 |
| 1 | g.99910883C>A | CA2646738717 | AGL | c.3836+36C>A (n.3836+36C>A) n.4047+36C>A c.3788+36C>A (n.3788+36C>A) c.3785+36C>A (n.3785+36C>A) c.2096+36C>A (n.2096+36C>A) | gnomAD v4 |
| 1 | g.99910883C= | CA1183941732 | AGL | c.3836+36C= (n.3836+36C=) n.4047+36C= c.3788+36C= (n.3788+36C=) c.3785+36C= (n.3785+36C=) c.2096+36C= (n.2096+36C=) | |
| 1 | g.99910883C>T | CA1004957235 | AGL | c.3836+36C>T (n.3836+36C>T) n.4047+36C>T c.3788+36C>T (n.3788+36C>T) c.3785+36C>T (n.3785+36C>T) c.2096+36C>T (n.2096+36C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99910884T>C | CA2646738718 | AGL | c.3836+37T>C (n.3836+37T>C) n.4047+37T>C c.3788+37T>C (n.3788+37T>C) c.3785+37T>C (n.3785+37T>C) c.2096+37T>C (n.2096+37T>C) | gnomAD v4 |
| 1 | g.99910884T>G | CA2646738719 | AGL | c.3836+37T>G (n.3836+37T>G) n.4047+37T>G c.3788+37T>G (n.3788+37T>G) c.3785+37T>G (n.3785+37T>G) c.2096+37T>G (n.2096+37T>G) | gnomAD v4 |
| 1 | g.99910885T>C | CA524710414 | AGL | c.3836+38T>C (n.3836+38T>C) n.4047+38T>C c.3788+38T>C (n.3788+38T>C) c.3785+38T>C (n.3785+38T>C) c.2096+38T>C (n.2096+38T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910885T= | CA1183941734 | AGL | c.3836+38T= (n.3836+38T=) n.4047+38T= c.3788+38T= (n.3788+38T=) c.3785+38T= (n.3785+38T=) c.2096+38T= (n.2096+38T=) | |
| 1 | g.99910886C>A | CA967228 | AGL | c.3836+39C>A (n.3836+39C>A) n.4047+39C>A c.3788+39C>A (n.3788+39C>A) c.3785+39C>A (n.3785+39C>A) c.2096+39C>A (n.2096+39C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910886C= | CA1183941736 | AGL | c.3836+39C= (n.3836+39C=) n.4047+39C= c.3788+39C= (n.3788+39C=) c.3785+39C= (n.3785+39C=) c.2096+39C= (n.2096+39C=) | |
| 1 | g.99910886C>T | CA967229 | AGL | c.3836+39C>T (n.3836+39C>T) n.4047+39C>T c.3788+39C>T (n.3788+39C>T) c.3785+39C>T (n.3785+39C>T) c.2096+39C>T (n.2096+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910887_99910889del | CA2646738720 | AGL | c.3836+40_3836+42del (n.3836+40_3836+42del) n.4047+40_4047+42del c.3788+40_3788+42del (n.3788+40_3788+42del) c.3785+40_3785+42del (n.3785+40_3785+42del) c.2096+40_2096+42del (n.2096+40_2096+42del) | gnomAD v4 |