Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.99896369G>A | CA967049 | AGL | c.3343G>A (p.Gly1115Arg) n.3554G>A c.3295G>A (p.Gly1099Arg) c.3292G>A (p.Gly1098Arg) c.1603G>A (p.Gly535Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99896369G>C | CA341328894 | AGL | c.3343G>C (p.Gly1115Arg) n.3554G>C c.3295G>C (p.Gly1099Arg) c.3292G>C (p.Gly1098Arg) c.1603G>C (p.Gly535Arg) | |
1 | g.99896369G= | CA1139921708 | AGL | c.3343G= (p.Gly1115=) n.3554G= c.3295G= (p.Gly1099=) c.3292G= (p.Gly1098=) c.1603G= (p.Gly535=) | |
1 | g.99896369G>T | CA341328898 | AGL | c.3343G>T (p.Gly1115Ter) n.3554G>T c.3295G>T (p.Gly1099Ter) c.3292G>T (p.Gly1098Ter) c.1603G>T (p.Gly535Ter) | |
1 | g.99896370G>A | CA341328902 | AGL | c.3344G>A (p.Gly1115Glu) n.3555G>A c.3296G>A (p.Gly1099Glu) c.3293G>A (p.Gly1098Glu) c.1604G>A (p.Gly535Glu) | |
1 | g.99896370G>C | CA341328906 | AGL | c.3344G>C (p.Gly1115Ala) n.3555G>C c.3296G>C (p.Gly1099Ala) c.3293G>C (p.Gly1098Ala) c.1604G>C (p.Gly535Ala) | |
1 | g.99896370G>T | CA341328908 | AGL | c.3344G>T (p.Gly1115Val) n.3555G>T c.3296G>T (p.Gly1099Val) c.3293G>T (p.Gly1098Val) c.1604G>T (p.Gly535Val) | |
1 | g.99896371A= | CA1183935290 | AGL | c.3345A= (p.Gly1115=) n.3556A= c.3297A= (p.Gly1099=) c.3294A= (p.Gly1098=) c.1605A= (p.Gly535=) | |
1 | g.99896371A>C | CA419087344 | AGL | c.3345A>C (p.Gly1115=) n.3556A>C c.3297A>C (p.Gly1099=) c.3294A>C (p.Gly1098=) c.1605A>C (p.Gly535=) | |
1 | g.99896371A>G | CA419087346 | AGL | c.3345A>G (p.Gly1115=) n.3556A>G c.3297A>G (p.Gly1099=) c.3294A>G (p.Gly1098=) c.1605A>G (p.Gly535=) | |
1 | g.99896371A>T | CA967050 | AGL | c.3345A>T (p.Gly1115=) n.3556A>T c.3297A>T (p.Gly1099=) c.3294A>T (p.Gly1098=) c.1605A>T (p.Gly535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99896372C>A | CA341328912 | AGL | c.3346C>A (p.Arg1116Ser) n.3557C>A c.3298C>A (p.Arg1100Ser) c.3295C>A (p.Arg1099Ser) c.1606C>A (p.Arg536Ser) | gnomAD v4 |
1 | g.99896372C= | CA1183935291 | AGL | c.3346C= (p.Arg1116=) n.3557C= c.3298C= (p.Arg1100=) c.3295C= (p.Arg1099=) c.1606C= (p.Arg536=) | |
1 | g.99896372C>G | CA341328917 | AGL | c.3346C>G (p.Arg1116Gly) n.3557C>G c.3298C>G (p.Arg1100Gly) c.3295C>G (p.Arg1099Gly) c.1606C>G (p.Arg536Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99896372C>T | CA967051 | AGL | c.3346C>T (p.Arg1116Cys) n.3557C>T c.3298C>T (p.Arg1100Cys) c.3295C>T (p.Arg1099Cys) c.1606C>T (p.Arg536Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.99896373G>A | CA967053 | AGL | c.3347G>A (p.Arg1116His) n.3558G>A c.3299G>A (p.Arg1100His) c.3296G>A (p.Arg1099His) c.1607G>A (p.Arg536His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99896373G>C | CA967052 | AGL | c.3347G>C (p.Arg1116Pro) n.3558G>C c.3299G>C (p.Arg1100Pro) c.3296G>C (p.Arg1099Pro) c.1607G>C (p.Arg536Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99896373G= | CA1148412285 | AGL | c.3347G= (p.Arg1116=) n.3558G= c.3299G= (p.Arg1100=) c.3296G= (p.Arg1099=) c.1607G= (p.Arg536=) | |
1 | g.99896373G>T | CA27534565 | AGL | c.3347G>T (p.Arg1116Leu) n.3558G>T c.3299G>T (p.Arg1100Leu) c.3296G>T (p.Arg1099Leu) c.1607G>T (p.Arg536Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99896374C>A | CA419087358 | AGL | c.3348C>A (p.Arg1116=) n.3559C>A c.3300C>A (p.Arg1100=) c.3297C>A (p.Arg1099=) c.1608C>A (p.Arg536=) | |
1 | g.99896374C= | CA1183935292 | AGL | c.3348C= (p.Arg1116=) n.3559C= c.3300C= (p.Arg1100=) c.3297C= (p.Arg1099=) c.1608C= (p.Arg536=) | |
1 | g.99896374C>G | CA967054 | AGL | c.3348C>G (p.Arg1116=) n.3559C>G c.3300C>G (p.Arg1100=) c.3297C>G (p.Arg1099=) c.1608C>G (p.Arg536=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99896374C>T | CA419087360 | AGL | c.3348C>T (p.Arg1116=) n.3559C>T c.3300C>T (p.Arg1100=) c.3297C>T (p.Arg1099=) c.1608C>T (p.Arg536=) | gnomAD v4 |
1 | g.99896375T>A | CA341328927 | AGL | c.3349T>A (p.Tyr1117Asn) n.3560T>A c.3301T>A (p.Tyr1101Asn) c.3298T>A (p.Tyr1100Asn) c.1609T>A (p.Tyr537Asn) | |
1 | g.99896375T>C | CA341328932 | AGL | c.3349T>C (p.Tyr1117His) n.3560T>C c.3301T>C (p.Tyr1101His) c.3298T>C (p.Tyr1100His) c.1609T>C (p.Tyr537His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99896375T>G | CA341328935 | AGL | c.3349T>G (p.Tyr1117Asp) n.3560T>G c.3301T>G (p.Tyr1101Asp) c.3298T>G (p.Tyr1100Asp) c.1609T>G (p.Tyr537Asp) | gnomAD v4 |
1 | g.99896375T= | CA1183935293 | AGL | c.3349T= (p.Tyr1117=) n.3560T= c.3301T= (p.Tyr1101=) c.3298T= (p.Tyr1100=) c.1609T= (p.Tyr537=) | |
1 | g.99896375dup | CA913046835 | AGL | c.3349dup (p.Tyr1117LeufsTer22) n.3560dup c.3301dup (p.Tyr1101LeufsTer22) c.3298dup (p.Tyr1100LeufsTer22) c.1609dup (p.Tyr537LeufsTer22) | |
1 | g.99896376A= | CA1183935294 | AGL | c.3350A= (p.Tyr1117=) n.3561A= c.3302A= (p.Tyr1101=) c.3299A= (p.Tyr1100=) c.1610A= (p.Tyr537=) | |
1 | g.99896376A>C | CA341328936 | AGL | c.3350A>C (p.Tyr1117Ser) n.3561A>C c.3302A>C (p.Tyr1101Ser) c.3299A>C (p.Tyr1100Ser) c.1610A>C (p.Tyr537Ser) | gnomAD v4 |
1 | g.99896376A>G | CA341328937 | AGL | c.3350A>G (p.Tyr1117Cys) n.3561A>G c.3302A>G (p.Tyr1101Cys) c.3299A>G (p.Tyr1100Cys) c.1610A>G (p.Tyr537Cys) | dbSNP |
1 | g.99896376A>T | CA341328943 | AGL | c.3350A>T (p.Tyr1117Phe) n.3561A>T c.3302A>T (p.Tyr1101Phe) c.3299A>T (p.Tyr1100Phe) c.1610A>T (p.Tyr537Phe) | |
1 | g.99896376dup | CA524709171 | AGL | c.3350dup (p.Tyr1117Ter) n.3561dup c.3302dup (p.Tyr1101Ter) c.3299dup (p.Tyr1100Ter) c.1610dup (p.Tyr537Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99896377T>A | CA341328951 | AGL | c.3351T>A (p.Tyr1117Ter) n.3562T>A c.3303T>A (p.Tyr1101Ter) c.3300T>A (p.Tyr1100Ter) c.1611T>A (p.Tyr537Ter) | |
1 | g.99896377T>C | CA419087371 | AGL | c.3351T>C (p.Tyr1117=) n.3562T>C c.3303T>C (p.Tyr1101=) c.3300T>C (p.Tyr1100=) c.1611T>C (p.Tyr537=) | ClinVar dbSNP gnomAD v4 |
1 | g.99896377T>G | CA341328946 | AGL | c.3351T>G (p.Tyr1117Ter) n.3562T>G c.3303T>G (p.Tyr1101Ter) c.3300T>G (p.Tyr1100Ter) c.1611T>G (p.Tyr537Ter) | |
1 | g.99896378G>A | CA341328954 | AGL | c.3352G>A (p.Val1118Ile) n.3563G>A c.3304G>A (p.Val1102Ile) c.3301G>A (p.Val1101Ile) c.1612G>A (p.Val538Ile) | |
1 | g.99896378G>C | CA341328957 | AGL | c.3352G>C (p.Val1118Leu) n.3563G>C c.3304G>C (p.Val1102Leu) c.3301G>C (p.Val1101Leu) c.1612G>C (p.Val538Leu) | |
1 | g.99896378G>T | CA341328960 | AGL | c.3352G>T (p.Val1118Leu) n.3563G>T c.3304G>T (p.Val1102Leu) c.3301G>T (p.Val1101Leu) c.1612G>T (p.Val538Leu) | |
1 | g.99896379T>A | CA967055 | AGL | c.3353T>A (p.Val1118Glu) n.3564T>A c.3305T>A (p.Val1102Glu) c.3302T>A (p.Val1101Glu) c.1613T>A (p.Val538Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99896379T>C | CA341328963 | AGL | c.3353T>C (p.Val1118Ala) n.3564T>C c.3305T>C (p.Val1102Ala) c.3302T>C (p.Val1101Ala) c.1613T>C (p.Val538Ala) | |
1 | g.99896379T>G | CA341328965 | AGL | c.3353T>G (p.Val1118Gly) n.3564T>G c.3305T>G (p.Val1102Gly) c.3302T>G (p.Val1101Gly) c.1613T>G (p.Val538Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99896379T= | CA1149120825 | AGL | c.3353T= (p.Val1118=) n.3564T= c.3305T= (p.Val1102=) c.3302T= (p.Val1101=) c.1613T= (p.Val538=) | |
1 | g.99896380A= | CA1183935295 | AGL | c.3354A= (p.Val1118=) n.3565A= c.3306A= (p.Val1102=) c.3303A= (p.Val1101=) c.1614A= (p.Val538=) | |
1 | g.99896380A>C | CA419087381 | AGL | c.3354A>C (p.Val1118=) n.3565A>C c.3306A>C (p.Val1102=) c.3303A>C (p.Val1101=) c.1614A>C (p.Val538=) | |
1 | g.99896380A>G | CA419087385 | AGL | c.3354A>G (p.Val1118=) n.3565A>G c.3306A>G (p.Val1102=) c.3303A>G (p.Val1101=) c.1614A>G (p.Val538=) | dbSNP |
1 | g.99896380A>T | CA419087383 | AGL | c.3354A>T (p.Val1118=) n.3565A>T c.3306A>T (p.Val1102=) c.3303A>T (p.Val1101=) c.1614A>T (p.Val538=) | |
1 | g.99896381G>A | CA341328977 | AGL | c.3355G>A (p.Glu1119Lys) n.3566G>A c.3307G>A (p.Glu1103Lys) c.3304G>A (p.Glu1102Lys) c.1615G>A (p.Glu539Lys) | |
1 | g.99896381G>C | CA341328970 | AGL | c.3355G>C (p.Glu1119Gln) n.3566G>C c.3307G>C (p.Glu1103Gln) c.3304G>C (p.Glu1102Gln) c.1615G>C (p.Glu539Gln) | |
1 | g.99896381G>T | CA341328974 | AGL | c.3355G>T (p.Glu1119Ter) n.3566G>T c.3307G>T (p.Glu1103Ter) c.3304G>T (p.Glu1102Ter) c.1615G>T (p.Glu539Ter) |