Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.56594483_56594524del | CA2695226621 | NOG | c.260_301del (p.Arg87_Asp100del) | |
17 | g.56594507_56594518del | CA2638880926 | NOG | c.284_295del (p.Ala95_Ala98del) | gnomAD v4 |
17 | g.56594515G>A | CA399965481 | NOG | c.292G>A (p.Ala98Thr) | |
17 | g.56594515G>C | CA399965484 | NOG | c.292G>C (p.Ala98Pro) | |
17 | g.56594515G>T | CA399965487 | NOG | c.292G>T (p.Ala98Ser) | |
17 | g.56594516C>A | CA399965490 | NOG | c.293C>A (p.Ala98Glu) | |
17 | g.56594516C= | CA2266876233 | NOG | c.293C= (p.Ala98=) | |
17 | g.56594516C>G | CA399965493 | NOG | c.293C>G (p.Ala98Gly) | |
17 | g.56594516C>T | CA8663178 | NOG | c.293C>T (p.Ala98Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.56594517G>A | CA500985823 | NOG | c.294G>A (p.Ala98=) | |
17 | g.56594517G>C | CA500985824 | NOG | c.294G>C (p.Ala98=) | |
17 | g.56594517G>T | CA500985826 | NOG | c.294G>T (p.Ala98=) | gnomAD v4 |
17 | g.56594518G>A | CA399965498 | NOG | c.295G>A (p.Glu99Lys) | gnomAD v4 |
17 | g.56594518G>C | CA399965504 | NOG | c.295G>C (p.Glu99Gln) | |
17 | g.56594518G>T | CA399965501 | NOG | c.295G>T (p.Glu99Ter) | |
17 | g.56594519A= | CA2266876234 | NOG | c.296A= (p.Glu99=) | |
17 | g.56594519A>C | CA399965507 | NOG | c.296A>C (p.Glu99Ala) | |
17 | g.56594519A>G | CA399965509 | NOG | c.296A>G (p.Glu99Gly) | ClinVar dbSNP gnomAD v4 |
17 | g.56594519A>T | CA399965511 | NOG | c.296A>T (p.Glu99Val) | |
17 | g.56594520G>A | CA500985828 | NOG | c.297G>A (p.Glu99=) | |
17 | g.56594520G>C | CA399965514 | NOG | c.297G>C (p.Glu99Asp) | |
17 | g.56594520G>T | CA399965517 | NOG | c.297G>T (p.Glu99Asp) | |
17 | g.56594521G>A | CA399965520 | NOG | c.298G>A (p.Asp100Asn) | |
17 | g.56594521G>C | CA399965522 | NOG | c.298G>C (p.Asp100His) | |
17 | g.56594521G>T | CA399965525 | NOG | c.298G>T (p.Asp100Tyr) | |
17 | g.56594522A= | CA2266876235 | NOG | c.299A= (p.Asp100=) | |
17 | g.56594522A>C | CA399965529 | NOG | c.299A>C (p.Asp100Ala) | dbSNP |
17 | g.56594522A>G | CA399965530 | NOG | c.299A>G (p.Asp100Gly) | |
17 | g.56594522A>T | CA399965532 | NOG | c.299A>T (p.Asp100Val) | |
17 | g.56594523C>A | CA399965536 | NOG | c.300C>A (p.Asp100Glu) | gnomAD v4 |
17 | g.56594523C>G | CA399965537 | NOG | c.300C>G (p.Asp100Glu) | |
17 | g.56594523C>T | CA500985836 | NOG | c.300C>T (p.Asp100=) | gnomAD v4 |
17 | g.56594524C>A | CA399965541 | NOG | c.301C>A (p.Leu101Met) | |
17 | g.56594524C= | CA2266876236 | NOG | c.301C= (p.Leu101=) | |
17 | g.56594524C>G | CA399965545 | NOG | c.301C>G (p.Leu101Val) | |
17 | g.56594524C>T | CA8663179 | NOG | c.301C>T (p.Leu101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.56594525T>A | CA399965550 | NOG | c.302T>A (p.Leu101Gln) | |
17 | g.56594525T>C | CA399965553 | NOG | c.302T>C (p.Leu101Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.56594525T>G | CA399965555 | NOG | c.302T>G (p.Leu101Arg) | |
17 | g.56594525T= | CA2266876237 | NOG | c.302T= (p.Leu101=) | |
17 | g.56594526G>A | CA8663180 | NOG | c.303G>A (p.Leu101=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.56594526G>C | CA500985232 | NOG | c.303G>C (p.Leu101=) | |
17 | g.56594526G= | CA2266876238 | NOG | c.303G= (p.Leu101=) | |
17 | g.56594526G>T | CA500985233 | NOG | c.303G>T (p.Leu101=) | |
17 | g.56594527del | CA2580610833 | NOG | c.304del (p.Ala102ArgfsTer22) | |
17 | g.56594527G>A | CA399965563 | NOG | c.304G>A (p.Ala102Thr) | |
17 | g.56594527G>C | CA399965565 | NOG | c.304G>C (p.Ala102Pro) | |
17 | g.56594527G>T | CA399965568 | NOG | c.304G>T (p.Ala102Ser) | |
17 | g.56594528C>A | CA399965571 | NOG | c.305C>A (p.Ala102Glu) | ClinVar gnomAD v4 |
17 | g.56594528C= | CA2266876239 | NOG | c.305C= (p.Ala102=) |