| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |