| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99912471_99912472del | CA913046845 | AGL | c.3903_3904del (p.Asn1304TyrfsTer6) n.4114_4115del c.3855_3856del (p.Asn1288TyrfsTer6) c.3852_3853del (p.Asn1287TyrfsTer6) c.2163_2164del (p.Asn724TyrfsTer6) | |
| 1 | g.99912471_99912472delinsCA | CA1183943099 | AGL | c.3903_3904delinsCA (p.Ser1301=) n.4114_4115delinsCA c.3855_3856delinsCA (p.Ser1285=) c.3852_3853delinsCA (p.Ser1284=) c.2163_2164delinsCA (p.Ser721=) | |
| 1 | g.99912472A>C | CA341338903 | AGL | c.3904A>C (p.Lys1302Gln) n.4115A>C c.3856A>C (p.Lys1286Gln) c.3853A>C (p.Lys1285Gln) c.2164A>C (p.Lys722Gln) | |
| 1 | g.99912472A>G | CA341338905 | AGL | c.3904A>G (p.Lys1302Glu) n.4115A>G c.3856A>G (p.Lys1286Glu) c.3853A>G (p.Lys1285Glu) c.2164A>G (p.Lys722Glu) | |
| 1 | g.99912472A>T | CA341338907 | AGL | c.3904A>T (p.Lys1302Ter) n.4115A>T c.3856A>T (p.Lys1286Ter) c.3853A>T (p.Lys1285Ter) c.2164A>T (p.Lys722Ter) | |
| 1 | g.99912472_99912479delinsAAAAAAAA | CA1148259336 | AGL | c.3904_3911delinsAAAAAAAA (p.Lys1302=) n.4115_4122delinsAAAAAAAA c.3856_3863delinsAAAAAAAA (p.Lys1286=) c.3853_3860delinsAAAAAAAA (p.Lys1285=) c.2164_2171delinsAAAAAAAA (p.Lys722=) | |
| 1 | g.99912479dup | CA967260 | AGL | c.3911dup (p.Asn1304LysfsTer7) n.4122dup c.3863dup (p.Asn1288LysfsTer7) c.3860dup (p.Asn1287LysfsTer7) c.2171dup (p.Asn724LysfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99912479del | CA967259 | AGL | c.3911del (p.Asn1304IlefsTer10) n.4122del c.3863del (p.Asn1288IlefsTer10) c.3860del (p.Asn1287IlefsTer10) c.2171del (p.Asn724IlefsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99912473A>C | CA341338911 | AGL | c.3905A>C (p.Lys1302Thr) n.4116A>C c.3857A>C (p.Lys1286Thr) c.3854A>C (p.Lys1285Thr) c.2165A>C (p.Lys722Thr) | |
| 1 | g.99912473A>G | CA341338912 | AGL | c.3905A>G (p.Lys1302Arg) n.4116A>G c.3857A>G (p.Lys1286Arg) c.3854A>G (p.Lys1285Arg) c.2165A>G (p.Lys722Arg) | |
| 1 | g.99912473A>T | CA341338914 | AGL | c.3905A>T (p.Lys1302Ile) n.4116A>T c.3857A>T (p.Lys1286Ile) c.3854A>T (p.Lys1285Ile) c.2165A>T (p.Lys722Ile) | |
| 1 | g.99912474A>C | CA341338916 | AGL | c.3906A>C (p.Lys1302Asn) n.4117A>C c.3858A>C (p.Lys1286Asn) c.3855A>C (p.Lys1285Asn) c.2166A>C (p.Lys722Asn) | |
| 1 | g.99912474A>G | CA419092513 | AGL | c.3906A>G (p.Lys1302=) n.4117A>G c.3858A>G (p.Lys1286=) c.3855A>G (p.Lys1285=) c.2166A>G (p.Lys722=) | |
| 1 | g.99912474A>T | CA341338918 | AGL | c.3906A>T (p.Lys1302Asn) n.4117A>T c.3858A>T (p.Lys1286Asn) c.3855A>T (p.Lys1285Asn) c.2166A>T (p.Lys722Asn) | |
| 1 | g.99912475A>C | CA341338919 | AGL | c.3907A>C (p.Lys1303Gln) n.4118A>C c.3859A>C (p.Lys1287Gln) c.3856A>C (p.Lys1286Gln) c.2167A>C (p.Lys723Gln) | |
| 1 | g.99912475A>G | CA341338921 | AGL | c.3907A>G (p.Lys1303Glu) n.4118A>G c.3859A>G (p.Lys1287Glu) c.3856A>G (p.Lys1286Glu) c.2167A>G (p.Lys723Glu) | gnomAD v4 |
| 1 | g.99912475A>T | CA341338923 | AGL | c.3907A>T (p.Lys1303Ter) n.4118A>T c.3859A>T (p.Lys1287Ter) c.3856A>T (p.Lys1286Ter) c.2167A>T (p.Lys723Ter) | |
| 1 | g.99912476A>C | CA341338928 | AGL | c.3908A>C (p.Lys1303Thr) n.4119A>C c.3860A>C (p.Lys1287Thr) c.3857A>C (p.Lys1286Thr) c.2168A>C (p.Lys723Thr) | |
| 1 | g.99912476A>G | CA341338926 | AGL | c.3908A>G (p.Lys1303Arg) n.4119A>G c.3860A>G (p.Lys1287Arg) c.3857A>G (p.Lys1286Arg) c.2168A>G (p.Lys723Arg) | |
| 1 | g.99912476A>T | CA341338925 | AGL | c.3908A>T (p.Lys1303Ile) n.4119A>T c.3860A>T (p.Lys1287Ile) c.3857A>T (p.Lys1286Ile) c.2168A>T (p.Lys723Ile) | |
| 1 | g.99912477A>C | CA341338930 | AGL | c.3909A>C (p.Lys1303Asn) n.4120A>C c.3861A>C (p.Lys1287Asn) c.3858A>C (p.Lys1286Asn) c.2169A>C (p.Lys723Asn) | |
| 1 | g.99912477A>G | CA419092534 | AGL | c.3909A>G (p.Lys1303=) n.4120A>G c.3861A>G (p.Lys1287=) c.3858A>G (p.Lys1286=) c.2169A>G (p.Lys723=) | |
| 1 | g.99912477A>T | CA341338931 | AGL | c.3909A>T (p.Lys1303Asn) n.4120A>T c.3861A>T (p.Lys1287Asn) c.3858A>T (p.Lys1286Asn) c.2169A>T (p.Lys723Asn) | |
| 1 | g.99912478A>C | CA341338932 | AGL | c.3910A>C (p.Asn1304His) n.4121A>C c.3862A>C (p.Asn1288His) c.3859A>C (p.Asn1287His) c.2170A>C (p.Asn724His) | |
| 1 | g.99912478A>G | CA341338934 | AGL | c.3910A>G (p.Asn1304Asp) n.4121A>G c.3862A>G (p.Asn1288Asp) c.3859A>G (p.Asn1287Asp) c.2170A>G (p.Asn724Asp) | |
| 1 | g.99912478A>T | CA341338936 | AGL | c.3910A>T (p.Asn1304Tyr) n.4121A>T c.3862A>T (p.Asn1288Tyr) c.3859A>T (p.Asn1287Tyr) c.2170A>T (p.Asn724Tyr) | |
| 1 | g.99912479A>C | CA341338938 | AGL | c.3911A>C (p.Asn1304Thr) n.4122A>C c.3863A>C (p.Asn1288Thr) c.3860A>C (p.Asn1287Thr) c.2171A>C (p.Asn724Thr) | |
| 1 | g.99912479A>G | CA341338939 | AGL | c.3911A>G (p.Asn1304Ser) n.4122A>G c.3863A>G (p.Asn1288Ser) c.3860A>G (p.Asn1287Ser) c.2171A>G (p.Asn724Ser) | |
| 1 | g.99912479A>T | CA341338941 | AGL | c.3911A>T (p.Asn1304Ile) n.4122A>T c.3863A>T (p.Asn1288Ile) c.3860A>T (p.Asn1287Ile) c.2171A>T (p.Asn724Ile) | |
| 1 | g.99912479_99912480delinsAT | CA1183943115 | AGL | c.3911_3912delinsAT (p.Asn1304=) n.4122_4123delinsAT c.3863_3864delinsAT (p.Asn1288=) c.3860_3861delinsAT (p.Asn1287=) c.2171_2172delinsAT (p.Asn724=) | |
| 1 | g.99912480del | CA741020076 | AGL | c.3912del (p.Asn1304LysfsTer10) n.4123del c.3864del (p.Asn1288LysfsTer10) c.3861del (p.Asn1287LysfsTer10) c.2172del (p.Asn724LysfsTer10) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99912480T>A | CA341338942 | AGL | c.3912T>A (p.Asn1304Lys) n.4123T>A c.3864T>A (p.Asn1288Lys) c.3861T>A (p.Asn1287Lys) c.2172T>A (p.Asn724Lys) | ClinVar dbSNP |
| 1 | g.99912480T>C | CA419092554 | AGL | c.3912T>C (p.Asn1304=) n.4123T>C c.3864T>C (p.Asn1288=) c.3861T>C (p.Asn1287=) c.2172T>C (p.Asn724=) | |
| 1 | g.99912480T>G | CA341338943 | AGL | c.3912T>G (p.Asn1304Lys) n.4123T>G c.3864T>G (p.Asn1288Lys) c.3861T>G (p.Asn1287Lys) c.2172T>G (p.Asn724Lys) | |
| 1 | g.99912480T= | CA1183943119 | AGL | c.3912T= (p.Asn1304=) n.4123T= c.3864T= (p.Asn1288=) c.3861T= (p.Asn1287=) c.2172T= (p.Asn724=) | |
| 1 | g.99912481A= | CA1183943122 | AGL | c.3913A= (p.Ile1305=) n.4124A= c.3865A= (p.Ile1289=) c.3862A= (p.Ile1288=) c.2173A= (p.Ile725=) | |
| 1 | g.99912481A>C | CA341338944 | AGL | c.3913A>C (p.Ile1305Leu) n.4124A>C c.3865A>C (p.Ile1289Leu) c.3862A>C (p.Ile1288Leu) c.2173A>C (p.Ile725Leu) | |
| 1 | g.99912481A>G | CA341338946 | AGL | c.3913A>G (p.Ile1305Val) n.4124A>G c.3865A>G (p.Ile1289Val) c.3862A>G (p.Ile1288Val) c.2173A>G (p.Ile725Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99912481A>T | CA341338948 | AGL | c.3913A>T (p.Ile1305Phe) n.4124A>T c.3865A>T (p.Ile1289Phe) c.3862A>T (p.Ile1288Phe) c.2173A>T (p.Ile725Phe) | |
| 1 | g.99912482T>A | CA341338952 | AGL | c.3914T>A (p.Ile1305Asn) n.4125T>A c.3866T>A (p.Ile1289Asn) c.3863T>A (p.Ile1288Asn) c.2174T>A (p.Ile725Asn) | |
| 1 | g.99912482T>C | CA341338954 | AGL | c.3914T>C (p.Ile1305Thr) n.4125T>C c.3866T>C (p.Ile1289Thr) c.3863T>C (p.Ile1288Thr) c.2174T>C (p.Ile725Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99912482T>G | CA341338951 | AGL | c.3914T>G (p.Ile1305Ser) n.4125T>G c.3866T>G (p.Ile1289Ser) c.3863T>G (p.Ile1288Ser) c.2174T>G (p.Ile725Ser) | |
| 1 | g.99912482T= | CA1183943127 | AGL | c.3914T= (p.Ile1305=) n.4125T= c.3866T= (p.Ile1289=) c.3863T= (p.Ile1288=) c.2174T= (p.Ile725=) | |
| 1 | g.99912483T>A | CA419092563 | AGL | c.3915T>A (p.Ile1305=) n.4126T>A c.3867T>A (p.Ile1289=) c.3864T>A (p.Ile1288=) c.2175T>A (p.Ile725=) | |
| 1 | g.99912483T>C | CA419092565 | AGL | c.3915T>C (p.Ile1305=) n.4126T>C c.3867T>C (p.Ile1289=) c.3864T>C (p.Ile1288=) c.2175T>C (p.Ile725=) | gnomAD v4 |
| 1 | g.99912483T>G | CA341338955 | AGL | c.3915T>G (p.Ile1305Met) n.4126T>G c.3867T>G (p.Ile1289Met) c.3864T>G (p.Ile1288Met) c.2175T>G (p.Ile725Met) | |
| 1 | g.99912484T>A | CA341338960 | AGL | c.3916T>A (p.Phe1306Ile) n.4127T>A c.3868T>A (p.Phe1290Ile) c.3865T>A (p.Phe1289Ile) c.2176T>A (p.Phe726Ile) | |
| 1 | g.99912484T>C | CA341338957 | AGL | c.3916T>C (p.Phe1306Leu) n.4127T>C c.3868T>C (p.Phe1290Leu) c.3865T>C (p.Phe1289Leu) c.2176T>C (p.Phe726Leu) | |
| 1 | g.99912484T>G | CA341338958 | AGL | c.3916T>G (p.Phe1306Val) n.4127T>G c.3868T>G (p.Phe1290Val) c.3865T>G (p.Phe1289Val) c.2176T>G (p.Phe726Val) | |
| 1 | g.99912485T>A | CA341338968 | AGL | c.3917T>A (p.Phe1306Tyr) n.4128T>A c.3869T>A (p.Phe1290Tyr) c.3866T>A (p.Phe1289Tyr) c.2177T>A (p.Phe726Tyr) |