Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.151674506C>A | CA348817675 | NEB | c.3958G>T (p.Ala1320Ser) | |
2 | g.151674506C>G | CA348817676 | NEB | c.3958G>C (p.Ala1320Pro) | |
2 | g.151674506C>T | CA348817677 | NEB | c.3958G>A (p.Ala1320Thr) | |
2 | g.151674507T>A | CA429243048 | NEB | c.3957A>T (p.Ala1319=) | |
2 | g.151674507T>C | CA429243049 | NEB | c.3957A>G (p.Ala1319=) | |
2 | g.151674507T>G | CA429243050 | NEB | c.3957A>C (p.Ala1319=) | |
2 | g.151674508G>A | CA348817678 | NEB | c.3956C>T (p.Ala1319Val) | |
2 | g.151674508G>C | CA348817679 | NEB | c.3956C>G (p.Ala1319Gly) | |
2 | g.151674508G>T | CA348817680 | NEB | c.3956C>A (p.Ala1319Glu) | |
2 | g.151674509C>A | CA348817681 | NEB | c.3955G>T (p.Ala1319Ser) | gnomAD v4 |
2 | g.151674509C>G | CA348817682 | NEB | c.3955G>C (p.Ala1319Pro) | |
2 | g.151674509C>T | CA348817683 | NEB | c.3955G>A (p.Ala1319Thr) | |
2 | g.151674510A>C | CA429243052 | NEB | c.3954T>G (p.Thr1318=) | |
2 | g.151674510A>G | CA429243053 | NEB | c.3954T>C (p.Thr1318=) | ClinVar dbSNP |
2 | g.151674510A>T | CA429243054 | NEB | c.3954T>A (p.Thr1318=) | gnomAD v4 |
2 | g.151674511G>A | CA348817684 | NEB | c.3953C>T (p.Thr1318Ile) | |
2 | g.151674511G>C | CA348817685 | NEB | c.3953C>G (p.Thr1318Ser) | |
2 | g.151674511G>T | CA348817686 | NEB | c.3953C>A (p.Thr1318Asn) | |
2 | g.151674512T>A | CA348817687 | NEB | c.3952A>T (p.Thr1318Ser) | |
2 | g.151674512T>C | CA348817689 | NEB | c.3952A>G (p.Thr1318Ala) | |
2 | g.151674512T>G | CA348817688 | NEB | c.3952A>C (p.Thr1318Pro) | |
2 | g.151674513G>A | CA429243059 | NEB | c.3951C>T (p.Ile1317=) | |
2 | g.151674513G>C | CA348817690 | NEB | c.3951C>G (p.Ile1317Met) | |
2 | g.151674513G>T | CA429243060 | NEB | c.3951C>A (p.Ile1317=) | |
2 | g.151674514A= | CA1298292943 | NEB | c.3950T= (p.Ile1317=) | |
2 | g.151674514A>C | CA348817691 | NEB | c.3950T>G (p.Ile1317Ser) | |
2 | g.151674514A>G | CA348817692 | NEB | c.3950T>C (p.Ile1317Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.151674514A>T | CA348817693 | NEB | c.3950T>A (p.Ile1317Asn) | |
2 | g.151674515T>A | CA348817694 | NEB | c.3949A>T (p.Ile1317Phe) | |
2 | g.151674515T>C | CA1910780 | NEB | c.3949A>G (p.Ile1317Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.151674515T>G | CA348817695 | NEB | c.3949A>C (p.Ile1317Leu) | |
2 | g.151674515T= | CA1298292946 | NEB | c.3949A= (p.Ile1317=) | |
2 | g.151674516G>A | CA429243064 | NEB | c.3948C>T (p.Pro1316=) | |
2 | g.151674516G>C | CA429243065 | NEB | c.3948C>G (p.Pro1316=) | |
2 | g.151674516G>T | CA429243066 | NEB | c.3948C>A (p.Pro1316=) | |
2 | g.151674517G>A | CA348817696 | NEB | c.3947C>T (p.Pro1316Leu) | |
2 | g.151674517G>C | CA348817697 | NEB | c.3947C>G (p.Pro1316Arg) | |
2 | g.151674517G>T | CA348817698 | NEB | c.3947C>A (p.Pro1316His) | |
2 | g.151674518G>A | CA348817699 | NEB | c.3946C>T (p.Pro1316Ser) | dbSNP gnomAD v4 |
2 | g.151674518G>C | CA348817700 | NEB | c.3946C>G (p.Pro1316Ala) | gnomAD v4 |
2 | g.151674518G= | CA1298292948 | NEB | c.3946C= (p.Pro1316=) | |
2 | g.151674518G>T | CA348817701 | NEB | c.3946C>A (p.Pro1316Thr) | |
2 | g.151674518_151674519insCC | CA2661470371 | NEB | c.3945_3946insGG (p.Pro1316GlyfsTer?) | gnomAD v4 |
2 | g.151674519A>C | CA348817702 | NEB | c.3945T>G (p.Ile1315Met) | |
2 | g.151674519A>G | CA429243070 | NEB | c.3945T>C (p.Ile1315=) | |
2 | g.151674519A>T | CA429243071 | NEB | c.3945T>A (p.Ile1315=) | |
2 | g.151674519_151674521delinsCCA | CA2580064127 | NEB | c.3943_3945delinsTGG (p.Ile1315Trp) | ClinVar |
2 | g.151674520A>C | CA348817703 | NEB | c.3944T>G (p.Ile1315Ser) | |
2 | g.151674520A>G | CA348817704 | NEB | c.3944T>C (p.Ile1315Thr) | |
2 | g.151674520A>T | CA348817705 | NEB | c.3944T>A (p.Ile1315Asn) |