Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.56594222_56594229del | CA2638880913 | NOG | c.-2_6del | gnomAD v4 |
17 | g.56594221_56594241dup | CA2638880915 | NOG | c.-3_18dup (p.Ser6_Leu7insGlyMetGluArgCysProSer) | gnomAD v4 |
17 | g.56594227G>A | CA399964040 | NOG | c.4G>A (p.Glu2Lys) | |
17 | g.56594227G>C | CA399964041 | NOG | c.4G>C (p.Glu2Gln) | |
17 | g.56594227G= | CA2266876089 | NOG | c.4G= (p.Glu2=) | |
17 | g.56594227G>T | CA399964042 | NOG | c.4G>T (p.Glu2Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.56594228A>C | CA399964043 | NOG | c.5A>C (p.Glu2Ala) | |
17 | g.56594228A>G | CA399964044 | NOG | c.5A>G (p.Glu2Gly) | |
17 | g.56594228A>T | CA399964045 | NOG | c.5A>T (p.Glu2Val) | |
17 | g.56594229G>A | CA500753304 | NOG | c.6G>A (p.Glu2=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.56594229G>C | CA399964046 | NOG | c.6G>C (p.Glu2Asp) | |
17 | g.56594229G= | CA2266876090 | NOG | c.6G= (p.Glu2=) | |
17 | g.56594229G>T | CA399964047 | NOG | c.6G>T (p.Glu2Asp) | |
17 | g.56594230C>A | CA399964050 | NOG | c.7C>A (p.Arg3Ser) | gnomAD v4 |
17 | g.56594230C>G | CA399964048 | NOG | c.7C>G (p.Arg3Gly) | |
17 | g.56594230C>T | CA399964049 | NOG | c.7C>T (p.Arg3Cys) | gnomAD v4 |
17 | g.56594231G>A | CA399964051 | NOG | c.8G>A (p.Arg3His) | |
17 | g.56594231G>C | CA399964052 | NOG | c.8G>C (p.Arg3Pro) | |
17 | g.56594231G= | CA2266876091 | NOG | c.8G= (p.Arg3=) | |
17 | g.56594231G>T | CA399964053 | NOG | c.8G>T (p.Arg3Leu) | dbSNP |
17 | g.56594232C>A | CA500753307 | NOG | c.9C>A (p.Arg3=) | |
17 | g.56594232C= | CA2266876092 | NOG | c.9C= (p.Arg3=) | |
17 | g.56594232C>G | CA500753306 | NOG | c.9C>G (p.Arg3=) | gnomAD v4 |
17 | g.56594232C>T | CA500753305 | NOG | c.9C>T (p.Arg3=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.56594233T>A | CA399964054 | NOG | c.10T>A (p.Cys4Ser) | |
17 | g.56594233T>C | CA399964055 | NOG | c.10T>C (p.Cys4Arg) | |
17 | g.56594233T>G | CA399964056 | NOG | c.10T>G (p.Cys4Gly) | |
17 | g.56594234G>A | CA8663112 | NOG | c.11G>A (p.Cys4Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.56594234G>C | CA399964057 | NOG | c.11G>C (p.Cys4Ser) | |
17 | g.56594234G= | CA2266876093 | NOG | c.11G= (p.Cys4=) | |
17 | g.56594234G>T | CA399964058 | NOG | c.11G>T (p.Cys4Phe) | gnomAD v4 |
17 | g.56594235C>A | CA399964059 | NOG | c.12C>A (p.Cys4Ter) | gnomAD v4 |
17 | g.56594235C= | CA2266876094 | NOG | c.12C= (p.Cys4=) | |
17 | g.56594235C>G | CA399964060 | NOG | c.12C>G (p.Cys4Trp) | |
17 | g.56594235C>T | CA500753309 | NOG | c.12C>T (p.Cys4=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.56594238dup | CA2638880919 | NOG | c.15dup (p.Ser6GlnfsTer?) | gnomAD v4 |
17 | g.56594236C>A | CA399964062 | NOG | c.13C>A (p.Pro5Thr) | |
17 | g.56594236C>G | CA399964063 | NOG | c.13C>G (p.Pro5Ala) | |
17 | g.56594236C>T | CA399964061 | NOG | c.13C>T (p.Pro5Ser) | gnomAD v4 |
17 | g.56594237C>A | CA399964064 | NOG | c.14C>A (p.Pro5His) | |
17 | g.56594237C= | CA2266876095 | NOG | c.14C= (p.Pro5=) | |
17 | g.56594237C>G | CA399964065 | NOG | c.14C>G (p.Pro5Arg) | |
17 | g.56594237C>T | CA399964066 | NOG | c.14C>T (p.Pro5Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.56594238C>A | CA500753310 | NOG | c.15C>A (p.Pro5=) | |
17 | g.56594238C>G | CA500753311 | NOG | c.15C>G (p.Pro5=) | |
17 | g.56594238C>T | CA500753312 | NOG | c.15C>T (p.Pro5=) | |
17 | g.56594239A>C | CA399964067 | NOG | c.16A>C (p.Ser6Arg) | |
17 | g.56594239A>G | CA399964068 | NOG | c.16A>G (p.Ser6Gly) | |
17 | g.56594239A>T | CA399964069 | NOG | c.16A>T (p.Ser6Cys) | |
17 | g.56594239dup | CA2638880920 | NOG | c.16dup (p.Ser6LysfsTer?) | gnomAD v4 |