| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.50193268T>A | CA433682513 | GNAT1 | c.153T>A (p.Ile51=) c.9T>A (p.Ile3=) n.433T>A | |
| 3 | g.50193268T>C | CA433682514 | GNAT1 | c.153T>C (p.Ile51=) c.9T>C (p.Ile3=) n.433T>C | dbSNP |
| 3 | g.50193268T>G | CA352912464 | GNAT1 | c.153T>G (p.Ile51Met) c.9T>G (p.Ile3Met) n.433T>G | |
| 3 | g.50193268T= | CA1363836730 | GNAT1 | c.153T= (p.Ile51=) c.9T= (p.Ile3=) n.433T= | |
| 3 | g.50193269A>C | CA352912471 | GNAT1 | c.154A>C (p.Ile52Leu) c.10A>C (p.Ile4Leu) n.434A>C | |
| 3 | g.50193269A>G | CA352912466 | GNAT1 | c.154A>G (p.Ile52Val) c.10A>G (p.Ile4Val) n.434A>G | |
| 3 | g.50193269A>T | CA352912469 | GNAT1 | c.154A>T (p.Ile52Phe) c.10A>T (p.Ile4Phe) n.434A>T | |
| 3 | g.50193270T>A | CA352912477 | GNAT1 | c.155T>A (p.Ile52Asn) c.11T>A (p.Ile4Asn) n.435T>A | |
| 3 | g.50193270T>C | CA352912481 | GNAT1 | c.155T>C (p.Ile52Thr) c.11T>C (p.Ile4Thr) n.435T>C | |
| 3 | g.50193270T>G | CA352912486 | GNAT1 | c.155T>G (p.Ile52Ser) c.11T>G (p.Ile4Ser) n.435T>G | |
| 3 | g.50193270_50193271del | CA2597237022 | GNAT1 | c.155_156del (p.Ile52ThrfsTer?) c.11_12del (p.Ile4ThrfsTer?) n.435_436del | gnomAD v3 gnomAD v4 |
| 3 | g.50193271C>A | CA433682527 | GNAT1 | c.156C>A (p.Ile52=) c.12C>A (p.Ile4=) n.436C>A | gnomAD v4 |
| 3 | g.50193271C>G | CA352912491 | GNAT1 | c.156C>G (p.Ile52Met) c.12C>G (p.Ile4Met) n.436C>G | |
| 3 | g.50193271C>T | CA433682529 | GNAT1 | c.156C>T (p.Ile52=) c.12C>T (p.Ile4=) n.436C>T | |
| 3 | g.50193272C>A | CA352912520 | GNAT1 | c.157C>A (p.His53Asn) c.13C>A (p.His5Asn) n.437C>A | |
| 3 | g.50193272C>G | CA352912510 | GNAT1 | c.157C>G (p.His53Asp) c.13C>G (p.His5Asp) n.437C>G | |
| 3 | g.50193272C>T | CA352912516 | GNAT1 | c.157C>T (p.His53Tyr) c.13C>T (p.His5Tyr) n.437C>T | |
| 3 | g.50193273A= | CA1363836731 | GNAT1 | c.158A= (p.His53=) c.14A= (p.His5=) n.438A= | |
| 3 | g.50193273A>C | CA352912523 | GNAT1 | c.158A>C (p.His53Pro) c.14A>C (p.His5Pro) n.438A>C | |
| 3 | g.50193273A>G | CA352912524 | GNAT1 | c.158A>G (p.His53Arg) c.14A>G (p.His5Arg) n.438A>G | dbSNP gnomAD v4 |
| 3 | g.50193273A>T | CA352912526 | GNAT1 | c.158A>T (p.His53Leu) c.14A>T (p.His5Leu) n.438A>T | |
| 3 | g.50193274C>A | CA352912542 | GNAT1 | c.159C>A (p.His53Gln) c.15C>A (p.His5Gln) n.439C>A | |
| 3 | g.50193274C>G | CA352912546 | GNAT1 | c.159C>G (p.His53Gln) c.15C>G (p.His5Gln) n.439C>G | |
| 3 | g.50193274C>T | CA433682552 | GNAT1 | c.159C>T (p.His53=) c.15C>T (p.His5=) n.439C>T | gnomAD v4 |
| 3 | g.50193275C>A | CA352912549 | GNAT1 | c.160C>A (p.Gln54Lys) c.16C>A (p.Gln6Lys) n.440C>A | |
| 3 | g.50193275C= | CA1363836732 | GNAT1 | c.160C= (p.Gln54=) c.16C= (p.Gln6=) n.440C= | |
| 3 | g.50193275C>G | CA352912562 | GNAT1 | c.160C>G (p.Gln54Glu) c.16C>G (p.Gln6Glu) n.440C>G | |
| 3 | g.50193275C>T | CA74601053 | GNAT1 | c.160C>T (p.Gln54Ter) c.16C>T (p.Gln6Ter) n.440C>T | dbSNP |
| 3 | g.50193276A>C | CA352912567 | GNAT1 | c.161A>C (p.Gln54Pro) c.17A>C (p.Gln6Pro) n.441A>C | |
| 3 | g.50193276A>G | CA352912576 | GNAT1 | c.161A>G (p.Gln54Arg) c.17A>G (p.Gln6Arg) n.441A>G | |
| 3 | g.50193276A>T | CA352912579 | GNAT1 | c.161A>T (p.Gln54Leu) c.17A>T (p.Gln6Leu) n.441A>T | |
| 3 | g.50193277G>A | CA433682567 | GNAT1 | c.162G>A (p.Gln54=) c.18G>A (p.Gln6=) n.442G>A | |
| 3 | g.50193277G>C | CA352912580 | GNAT1 | c.162G>C (p.Gln54His) c.18G>C (p.Gln6His) n.442G>C | |
| 3 | g.50193277G>T | CA352912581 | GNAT1 | c.162G>T (p.Gln54His) c.18G>T (p.Gln6His) n.442G>T | |
| 3 | g.50193278G>A | CA352912584 | GNAT1 | c.163G>A (p.Asp55Asn) c.19G>A (p.Asp7Asn) n.443G>A | gnomAD v4 |
| 3 | g.50193278G>C | CA352912586 | GNAT1 | c.163G>C (p.Asp55His) c.19G>C (p.Asp7His) n.443G>C | |
| 3 | g.50193278G= | CA1363836733 | GNAT1 | c.163G= (p.Asp55=) c.19G= (p.Asp7=) n.443G= | |
| 3 | g.50193278G>T | CA74601055 | GNAT1 | c.163G>T (p.Asp55Tyr) c.19G>T (p.Asp7Tyr) n.443G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193279A>C | CA352912592 | GNAT1 | c.164A>C (p.Asp55Ala) c.20A>C (p.Asp7Ala) n.444A>C | |
| 3 | g.50193279A>G | CA352912598 | GNAT1 | c.164A>G (p.Asp55Gly) c.20A>G (p.Asp7Gly) n.444A>G | |
| 3 | g.50193279A>T | CA352912600 | GNAT1 | c.164A>T (p.Asp55Val) c.20A>T (p.Asp7Val) n.444A>T | |
| 3 | g.50193280C>A | CA352912611 | GNAT1 | c.165C>A (p.Asp55Glu) c.21C>A (p.Asp7Glu) n.445C>A | |
| 3 | g.50193280C= | CA1363836734 | GNAT1 | c.165C= (p.Asp55=) c.21C= (p.Asp7=) n.445C= | |
| 3 | g.50193280C>G | CA352912605 | GNAT1 | c.165C>G (p.Asp55Glu) c.21C>G (p.Asp7Glu) n.445C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193280C>T | CA2412477 | GNAT1 | c.165C>T (p.Asp55=) c.21C>T (p.Asp7=) n.445C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193281G>A | CA352912626 | GNAT1 | c.166G>A (p.Gly56Arg) c.22G>A (p.Gly8Arg) n.446G>A | |
| 3 | g.50193281G>C | CA352912619 | GNAT1 | c.166G>C (p.Gly56Arg) c.22G>C (p.Gly8Arg) n.446G>C | |
| 3 | g.50193281G>T | CA352912629 | GNAT1 | c.166G>T (p.Gly56Trp) c.22G>T (p.Gly8Trp) n.446G>T | |
| 3 | g.50193282G>A | CA352912635 | GNAT1 | c.167G>A (p.Gly56Glu) c.23G>A (p.Gly8Glu) n.447G>A | |
| 3 | g.50193282G>C | CA352912642 | GNAT1 | c.167G>C (p.Gly56Ala) c.23G>C (p.Gly8Ala) n.447G>C | |
| 3 | g.50193282G>T | CA352912638 | GNAT1 | c.167G>T (p.Gly56Val) c.23G>T (p.Gly8Val) n.447G>T | |
| 3 | g.50193283G>A | CA2412479 | GNAT1 | c.168G>A (p.Gly56=) c.24G>A (p.Gly8=) n.448G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193283G>C | CA2412478 | GNAT1 | c.168G>C (p.Gly56=) c.24G>C (p.Gly8=) n.448G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193283G= | CA1363836735 | GNAT1 | c.168G= (p.Gly56=) c.24G= (p.Gly8=) n.448G= | |
| 3 | g.50193283G>T | CA433682666 | GNAT1 | c.168G>T (p.Gly56=) c.24G>T (p.Gly8=) n.448G>T | |
| 3 | g.50193284T>A | CA352912660 | GNAT1 | c.169T>A (p.Tyr57Asn) c.25T>A (p.Tyr9Asn) n.449T>A | |
| 3 | g.50193284T>C | CA352912662 | GNAT1 | c.169T>C (p.Tyr57His) c.25T>C (p.Tyr9His) n.449T>C | |
| 3 | g.50193284T>G | CA352912675 | GNAT1 | c.169T>G (p.Tyr57Asp) c.25T>G (p.Tyr9Asp) n.449T>G | |
| 3 | g.50193285A>C | CA352912689 | GNAT1 | c.170A>C (p.Tyr57Ser) c.26A>C (p.Tyr9Ser) n.450A>C | |
| 3 | g.50193285A>G | CA352912690 | GNAT1 | c.170A>G (p.Tyr57Cys) c.26A>G (p.Tyr9Cys) n.450A>G | |
| 3 | g.50193285A>T | CA352912691 | GNAT1 | c.170A>T (p.Tyr57Phe) c.26A>T (p.Tyr9Phe) n.450A>T | |
| 3 | g.50193286C>A | CA352912692 | GNAT1 | c.171C>A (p.Tyr57Ter) c.27C>A (p.Tyr9Ter) n.451C>A | gnomAD v4 |
| 3 | g.50193286C= | CA1363836736 | GNAT1 | c.171C= (p.Tyr57=) c.27C= (p.Tyr9=) n.451C= | |
| 3 | g.50193286C>G | CA74601059 | GNAT1 | c.171C>G (p.Tyr57Ter) c.27C>G (p.Tyr9Ter) n.451C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193286C>T | CA433860393 | GNAT1 | c.171C>T (p.Tyr57=) c.27C>T (p.Tyr9=) n.451C>T | |
| 3 | g.50193287T>A | CA352912697 | GNAT1 | c.172T>A (p.Ser58Thr) c.28T>A (p.Ser10Thr) n.452T>A | gnomAD v4 |
| 3 | g.50193287T>C | CA352912702 | GNAT1 | c.172T>C (p.Ser58Pro) c.28T>C (p.Ser10Pro) n.452T>C | |
| 3 | g.50193287T>G | CA352912709 | GNAT1 | c.172T>G (p.Ser58Ala) c.28T>G (p.Ser10Ala) n.452T>G | |
| 3 | g.50193288C>A | CA352912715 | GNAT1 | c.173C>A (p.Ser58Ter) c.29C>A (p.Ser10Ter) n.453C>A | |
| 3 | g.50193288C>G | CA352912724 | GNAT1 | c.173C>G (p.Ser58Trp) c.29C>G (p.Ser10Trp) n.453C>G | |
| 3 | g.50193288C>T | CA352912722 | GNAT1 | c.173C>T (p.Ser58Leu) c.29C>T (p.Ser10Leu) n.453C>T | |
| 3 | g.50193289G>A | CA433860397 | GNAT1 | c.174G>A (p.Ser58=) c.30G>A (p.Ser10=) n.454G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193289G>C | CA2412480 | GNAT1 | c.174G>C (p.Ser58=) c.30G>C (p.Ser10=) n.454G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193289G= | CA1363836737 | GNAT1 | c.174G= (p.Ser58=) c.30G= (p.Ser10=) n.454G= | |
| 3 | g.50193289G>T | CA433860396 | GNAT1 | c.174G>T (p.Ser58=) c.30G>T (p.Ser10=) n.454G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193290C>A | CA352912746 | GNAT1 | c.175C>A (p.Leu59Met) c.31C>A (p.Leu11Met) n.455C>A | |
| 3 | g.50193290C>G | CA352912748 | GNAT1 | c.175C>G (p.Leu59Val) c.31C>G (p.Leu11Val) n.455C>G | |
| 3 | g.50193290C>T | CA433860399 | GNAT1 | c.175C>T (p.Leu59=) c.31C>T (p.Leu11=) n.455C>T | |
| 3 | g.50193291T>A | CA352912753 | GNAT1 | c.176T>A (p.Leu59Gln) c.32T>A (p.Leu11Gln) n.456T>A | |
| 3 | g.50193291T>C | CA352912760 | GNAT1 | c.176T>C (p.Leu59Pro) c.32T>C (p.Leu11Pro) n.456T>C | ClinVar gnomAD v4 |
| 3 | g.50193291T>G | CA352912768 | GNAT1 | c.176T>G (p.Leu59Arg) c.32T>G (p.Leu11Arg) n.456T>G | |
| 3 | g.50193292G>A | CA433860406 | GNAT1 | c.177G>A (p.Leu59=) c.33G>A (p.Leu11=) n.457G>A | |
| 3 | g.50193292G>C | CA433860404 | GNAT1 | c.177G>C (p.Leu59=) c.33G>C (p.Leu11=) n.457G>C | |
| 3 | g.50193292G>T | CA433860401 | GNAT1 | c.177G>T (p.Leu59=) c.33G>T (p.Leu11=) n.457G>T | |
| 3 | g.50193293G>A | CA352912778 | GNAT1 | c.178G>A (p.Glu60Lys) c.34G>A (p.Glu12Lys) n.458G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193293G>C | CA352912785 | GNAT1 | c.178G>C (p.Glu60Gln) c.34G>C (p.Glu12Gln) n.458G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193293G= | CA1363836738 | GNAT1 | c.178G= (p.Glu60=) c.34G= (p.Glu12=) n.458G= | |
| 3 | g.50193293G>T | CA352912787 | GNAT1 | c.178G>T (p.Glu60Ter) c.34G>T (p.Glu12Ter) n.458G>T | |
| 3 | g.50193294A>C | CA352912803 | GNAT1 | c.179A>C (p.Glu60Ala) c.35A>C (p.Glu12Ala) n.459A>C | |
| 3 | g.50193294A>G | CA352912800 | GNAT1 | c.179A>G (p.Glu60Gly) c.35A>G (p.Glu12Gly) n.459A>G | |
| 3 | g.50193294A>T | CA352912799 | GNAT1 | c.179A>T (p.Glu60Val) c.35A>T (p.Glu12Val) n.459A>T | |
| 3 | g.50193295A>C | CA352912810 | GNAT1 | c.180A>C (p.Glu60Asp) c.36A>C (p.Glu12Asp) n.460A>C | |
| 3 | g.50193295A>G | CA433860411 | GNAT1 | c.180A>G (p.Glu60=) c.36A>G (p.Glu12=) n.460A>G | |
| 3 | g.50193295A>T | CA352912811 | GNAT1 | c.180A>T (p.Glu60Asp) c.36A>T (p.Glu12Asp) n.460A>T | |
| 3 | g.50193296G>A | CA352912812 | GNAT1 | c.181G>A (p.Glu61Lys) c.37G>A (p.Glu13Lys) n.461G>A | |
| 3 | g.50193296G>C | CA352912814 | GNAT1 | c.181G>C (p.Glu61Gln) c.37G>C (p.Glu13Gln) n.461G>C | |
| 3 | g.50193296G>T | CA352912816 | GNAT1 | c.181G>T (p.Glu61Ter) c.37G>T (p.Glu13Ter) n.461G>T | |
| 3 | g.50193297A>C | CA352912830 | GNAT1 | c.182A>C (p.Glu61Ala) c.38A>C (p.Glu13Ala) n.462A>C | |
| 3 | g.50193297A>G | CA352912832 | GNAT1 | c.182A>G (p.Glu61Gly) c.38A>G (p.Glu13Gly) n.462A>G | |
| 3 | g.50193297A>T | CA352912834 | GNAT1 | c.182A>T (p.Glu61Val) c.38A>T (p.Glu13Val) n.462A>T | |
| 3 | g.50193298G>A | CA433860416 | GNAT1 | c.183G>A (p.Glu61=) c.39G>A (p.Glu13=) n.463G>A | |
| 3 | g.50193298G>C | CA352912837 | GNAT1 | c.183G>C (p.Glu61Asp) c.39G>C (p.Glu13Asp) n.463G>C | gnomAD v4 |
| 3 | g.50193298G>T | CA352912855 | GNAT1 | c.183G>T (p.Glu61Asp) c.39G>T (p.Glu13Asp) n.463G>T | |
| 3 | g.50193299T>A | CA352912866 | GNAT1 | c.184T>A (p.Cys62Ser) c.40T>A (p.Cys14Ser) n.464T>A | |
| 3 | g.50193299T>C | CA352912874 | GNAT1 | c.184T>C (p.Cys62Arg) c.40T>C (p.Cys14Arg) n.464T>C | |
| 3 | g.50193299T>G | CA352912879 | GNAT1 | c.184T>G (p.Cys62Gly) c.40T>G (p.Cys14Gly) n.464T>G | |
| 3 | g.50193300G>A | CA352912883 | GNAT1 | c.185G>A (p.Cys62Tyr) c.41G>A (p.Cys14Tyr) n.465G>A | |
| 3 | g.50193300G>C | CA352912898 | GNAT1 | c.185G>C (p.Cys62Ser) c.41G>C (p.Cys14Ser) n.465G>C | |
| 3 | g.50193300G>T | CA352912896 | GNAT1 | c.185G>T (p.Cys62Phe) c.41G>T (p.Cys14Phe) n.465G>T | |
| 3 | g.50193301C>A | CA352912901 | GNAT1 | c.186C>A (p.Cys62Ter) c.42C>A (p.Cys14Ter) n.466C>A | |
| 3 | g.50193301C= | CA1363836739 | GNAT1 | c.186C= (p.Cys62=) c.42C= (p.Cys14=) n.466C= | |
| 3 | g.50193301C>G | CA352912902 | GNAT1 | c.186C>G (p.Cys62Trp) c.42C>G (p.Cys14Trp) n.466C>G | |
| 3 | g.50193301C>T | CA433860421 | GNAT1 | c.186C>T (p.Cys62=) c.42C>T (p.Cys14=) n.466C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193302C>A | CA352912907 | GNAT1 | c.187C>A (p.Leu63Ile) c.43C>A (p.Leu15Ile) n.467C>A | |
| 3 | g.50193302C= | CA1363836740 | GNAT1 | c.187C= (p.Leu63=) c.43C= (p.Leu15=) n.467C= | |
| 3 | g.50193302C>G | CA352912911 | GNAT1 | c.187C>G (p.Leu63Val) c.43C>G (p.Leu15Val) n.467C>G | dbSNP |
| 3 | g.50193302C>T | CA352912928 | GNAT1 | c.187C>T (p.Leu63Phe) c.43C>T (p.Leu15Phe) n.467C>T | gnomAD v4 |
| 3 | g.50193303T>A | CA352912936 | GNAT1 | c.188T>A (p.Leu63His) c.44T>A (p.Leu15His) n.468T>A | |
| 3 | g.50193303T>C | CA352912957 | GNAT1 | c.188T>C (p.Leu63Pro) c.44T>C (p.Leu15Pro) n.468T>C | |
| 3 | g.50193303T>G | CA352912963 | GNAT1 | c.188T>G (p.Leu63Arg) c.44T>G (p.Leu15Arg) n.468T>G | |
| 3 | g.50193304C>A | CA433860422 | GNAT1 | c.189C>A (p.Leu63=) c.45C>A (p.Leu15=) n.469C>A | |
| 3 | g.50193304C>G | CA433860424 | GNAT1 | c.189C>G (p.Leu63=) c.45C>G (p.Leu15=) n.469C>G | |
| 3 | g.50193304C>T | CA433860426 | GNAT1 | c.189C>T (p.Leu63=) c.45C>T (p.Leu15=) n.469C>T | |
| 3 | g.50193305G>A | CA352912976 | GNAT1 | c.190G>A (p.Glu64Lys) c.46G>A (p.Glu16Lys) n.470G>A | gnomAD v4 |
| 3 | g.50193305G>C | CA352912978 | GNAT1 | c.190G>C (p.Glu64Gln) c.46G>C (p.Glu16Gln) n.470G>C | |
| 3 | g.50193305G>T | CA352912988 | GNAT1 | c.190G>T (p.Glu64Ter) c.46G>T (p.Glu16Ter) n.470G>T | |
| 3 | g.50193306A>C | CA352912999 | GNAT1 | c.191A>C (p.Glu64Ala) c.47A>C (p.Glu16Ala) n.471A>C | |
| 3 | g.50193306A>G | CA352913004 | GNAT1 | c.191A>G (p.Glu64Gly) c.47A>G (p.Glu16Gly) n.471A>G | gnomAD v4 |
| 3 | g.50193306A>T | CA352912993 | GNAT1 | c.191A>T (p.Glu64Val) c.47A>T (p.Glu16Val) n.471A>T | |
| 3 | g.50193307G>A | CA433860428 | GNAT1 | c.192G>A (p.Glu64=) c.48G>A (p.Glu16=) n.472G>A | |
| 3 | g.50193307G>C | CA352913008 | GNAT1 | c.192G>C (p.Glu64Asp) c.48G>C (p.Glu16Asp) n.472G>C | |
| 3 | g.50193307G>T | CA352913016 | GNAT1 | c.192G>T (p.Glu64Asp) c.48G>T (p.Glu16Asp) n.472G>T | |
| 3 | g.50193308T>A | CA352913020 | GNAT1 | c.193T>A (p.Phe65Ile) c.49T>A (p.Phe17Ile) n.473T>A | |
| 3 | g.50193308T>C | CA352913022 | GNAT1 | c.193T>C (p.Phe65Leu) c.49T>C (p.Phe17Leu) n.473T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193308T>G | CA352913024 | GNAT1 | c.193T>G (p.Phe65Val) c.49T>G (p.Phe17Val) n.473T>G | |
| 3 | g.50193308T= | CA1363836741 | GNAT1 | c.193T= (p.Phe65=) c.49T= (p.Phe17=) n.473T= | |
| 3 | g.50193309T>A | CA352913028 | GNAT1 | c.194T>A (p.Phe65Tyr) c.50T>A (p.Phe17Tyr) n.474T>A | |
| 3 | g.50193309T>C | CA352913035 | GNAT1 | c.194T>C (p.Phe65Ser) c.50T>C (p.Phe17Ser) n.474T>C | |
| 3 | g.50193309T>G | CA352913039 | GNAT1 | c.194T>G (p.Phe65Cys) c.50T>G (p.Phe17Cys) n.474T>G | |
| 3 | g.50193310T>A | CA352913043 | GNAT1 | c.195T>A (p.Phe65Leu) c.51T>A (p.Phe17Leu) n.475T>A | |
| 3 | g.50193310T>C | CA433860432 | GNAT1 | c.195T>C (p.Phe65=) c.51T>C (p.Phe17=) n.475T>C | |
| 3 | g.50193310T>G | CA352913060 | GNAT1 | c.195T>G (p.Phe65Leu) c.51T>G (p.Phe17Leu) n.475T>G | |
| 3 | g.50193311A>C | CA352913073 | GNAT1 | c.196A>C (p.Ile66Leu) c.52A>C (p.Ile18Leu) n.476A>C | gnomAD v4 |
| 3 | g.50193311A>G | CA352913074 | GNAT1 | c.196A>G (p.Ile66Val) c.52A>G (p.Ile18Val) n.476A>G | |
| 3 | g.50193311A>T | CA352913078 | GNAT1 | c.196A>T (p.Ile66Phe) c.52A>T (p.Ile18Phe) n.476A>T | |
| 3 | g.50193312T>A | CA352913091 | GNAT1 | c.197T>A (p.Ile66Asn) c.53T>A (p.Ile18Asn) n.477T>A | |
| 3 | g.50193312T>C | CA352913089 | GNAT1 | c.197T>C (p.Ile66Thr) c.53T>C (p.Ile18Thr) n.477T>C | |
| 3 | g.50193312T>G | CA352913084 | GNAT1 | c.197T>G (p.Ile66Ser) c.53T>G (p.Ile18Ser) n.477T>G | |
| 3 | g.50193313C>A | CA433860436 | GNAT1 | c.198C>A (p.Ile66=) c.54C>A (p.Ile18=) n.478C>A | |
| 3 | g.50193313C>G | CA352913095 | GNAT1 | c.198C>G (p.Ile66Met) c.54C>G (p.Ile18Met) n.478C>G | |
| 3 | g.50193313C>T | CA433860437 | GNAT1 | c.198C>T (p.Ile66=) c.54C>T (p.Ile18=) n.478C>T | gnomAD v4 |
| 3 | g.50193314G>A | CA352913100 | GNAT1 | c.199G>A (p.Ala67Thr) c.55G>A (p.Ala19Thr) n.479G>A | gnomAD v4 |
| 3 | g.50193314G>C | CA352913106 | GNAT1 | c.199G>C (p.Ala67Pro) c.55G>C (p.Ala19Pro) n.479G>C | |
| 3 | g.50193314G>T | CA352913114 | GNAT1 | c.199G>T (p.Ala67Ser) c.55G>T (p.Ala19Ser) n.479G>T | |
| 3 | g.50193315C>A | CA352913121 | GNAT1 | c.200C>A (p.Ala67Asp) c.56C>A (p.Ala19Asp) n.480C>A | |
| 3 | g.50193315C>G | CA352913139 | GNAT1 | c.200C>G (p.Ala67Gly) c.56C>G (p.Ala19Gly) n.480C>G | |
| 3 | g.50193315C>T | CA352913142 | GNAT1 | c.200C>T (p.Ala67Val) c.56C>T (p.Ala19Val) n.480C>T | |
| 3 | g.50193316C>A | CA433860438 | GNAT1 | c.201C>A (p.Ala67=) c.57C>A (p.Ala19=) n.481C>A | |
| 3 | g.50193316C>G | CA433860439 | GNAT1 | c.201C>G (p.Ala67=) c.57C>G (p.Ala19=) n.481C>G | |
| 3 | g.50193316C>T | CA433860440 | GNAT1 | c.201C>T (p.Ala67=) c.57C>T (p.Ala19=) n.481C>T | ClinVar gnomAD v4 |
| 3 | g.50193317A>C | CA352913145 | GNAT1 | c.202A>C (p.Ile68Leu) c.58A>C (p.Ile20Leu) n.482A>C | |
| 3 | g.50193317A>G | CA352913147 | GNAT1 | c.202A>G (p.Ile68Val) c.58A>G (p.Ile20Val) n.482A>G | gnomAD v4 |
| 3 | g.50193317A>T | CA352913151 | GNAT1 | c.202A>T (p.Ile68Phe) c.58A>T (p.Ile20Phe) n.482A>T | |
| 3 | g.50193318T>A | CA352913155 | GNAT1 | c.203T>A (p.Ile68Asn) c.59T>A (p.Ile20Asn) n.483T>A | gnomAD v4 |
| 3 | g.50193318T>C | CA352913162 | GNAT1 | c.203T>C (p.Ile68Thr) c.59T>C (p.Ile20Thr) n.483T>C | gnomAD v4 |
| 3 | g.50193318T>G | CA352913166 | GNAT1 | c.203T>G (p.Ile68Ser) c.59T>G (p.Ile20Ser) n.483T>G | |
| 3 | g.50193319C>A | CA433860443 | GNAT1 | c.204C>A (p.Ile68=) c.60C>A (p.Ile20=) n.484C>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193319C= | CA1363836742 | GNAT1 | c.204C= (p.Ile68=) c.60C= (p.Ile20=) n.484C= | |
| 3 | g.50193319C>G | CA352913173 | GNAT1 | c.204C>G (p.Ile68Met) c.60C>G (p.Ile20Met) n.484C>G | |
| 3 | g.50193319C>T | CA433860444 | GNAT1 | c.204C>T (p.Ile68=) c.60C>T (p.Ile20=) n.484C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.50193320A>C | CA352913180 | GNAT1 | c.205A>C (p.Ile69Leu) c.61A>C (p.Ile21Leu) n.485A>C | |
| 3 | g.50193320A>G | CA352913188 | GNAT1 | c.205A>G (p.Ile69Val) c.61A>G (p.Ile21Val) n.485A>G | |
| 3 | g.50193320A>T | CA352913177 | GNAT1 | c.205A>T (p.Ile69Phe) c.61A>T (p.Ile21Phe) n.485A>T | |
| 3 | g.50193321T>A | CA352913197 | GNAT1 | c.206T>A (p.Ile69Asn) c.62T>A (p.Ile21Asn) n.486T>A | gnomAD v4 |
| 3 | g.50193321T>C | CA352913201 | GNAT1 | c.206T>C (p.Ile69Thr) c.62T>C (p.Ile21Thr) n.486T>C | |
| 3 | g.50193321T>G | CA352913207 | GNAT1 | c.206T>G (p.Ile69Ser) c.62T>G (p.Ile21Ser) n.486T>G | |
| 3 | g.50193322C>A | CA433860451 | GNAT1 | c.207C>A (p.Ile69=) c.63C>A (p.Ile21=) n.487C>A | |
| 3 | g.50193322C= | CA1363836743 | GNAT1 | c.207C= (p.Ile69=) c.63C= (p.Ile21=) n.487C= | |
| 3 | g.50193322C>G | CA352913215 | GNAT1 | c.207C>G (p.Ile69Met) c.63C>G (p.Ile21Met) n.487C>G | |
| 3 | g.50193322C>T | CA433860452 | GNAT1 | c.207C>T (p.Ile69=) c.63C>T (p.Ile21=) n.487C>T | dbSNP |
| 3 | g.50193323T>A | CA352913237 | GNAT1 | c.208T>A (p.Tyr70Asn) c.64T>A (p.Tyr22Asn) n.488T>A | |
| 3 | g.50193323T>C | CA352913245 | GNAT1 | c.208T>C (p.Tyr70His) c.64T>C (p.Tyr22His) n.488T>C | |
| 3 | g.50193323T>G | CA352913249 | GNAT1 | c.208T>G (p.Tyr70Asp) c.64T>G (p.Tyr22Asp) n.488T>G | |
| 3 | g.50193324A>C | CA352913256 | GNAT1 | c.209A>C (p.Tyr70Ser) c.65A>C (p.Tyr22Ser) n.489A>C | ClinVar |
| 3 | g.50193324A>G | CA352913261 | GNAT1 | c.209A>G (p.Tyr70Cys) c.65A>G (p.Tyr22Cys) n.489A>G | gnomAD v4 |
| 3 | g.50193324A>T | CA352913264 | GNAT1 | c.209A>T (p.Tyr70Phe) c.65A>T (p.Tyr22Phe) n.489A>T | |
| 3 | g.50193325C>A | CA352913286 | GNAT1 | c.210C>A (p.Tyr70Ter) c.66C>A (p.Tyr22Ter) n.490C>A | |
| 3 | g.50193325C= | CA1363836744 | GNAT1 | c.210C= (p.Tyr70=) c.66C= (p.Tyr22=) n.490C= | |
| 3 | g.50193325C>G | CA2412481 | GNAT1 | c.210C>G (p.Tyr70Ter) c.66C>G (p.Tyr22Ter) n.490C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193325C>T | CA433860458 | GNAT1 | c.210C>T (p.Tyr70=) c.66C>T (p.Tyr22=) n.490C>T | dbSNP gnomAD v4 |
| 3 | g.50193326G>A | CA352913296 | GNAT1 | c.211G>A (p.Gly71Ser) c.67G>A (p.Gly23Ser) n.491G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193326G>C | CA352913300 | GNAT1 | c.211G>C (p.Gly71Arg) c.67G>C (p.Gly23Arg) n.491G>C | |
| 3 | g.50193326G= | CA1363836745 | GNAT1 | c.211G= (p.Gly71=) c.67G= (p.Gly23=) n.491G= | |
| 3 | g.50193326G>T | CA2412482 | GNAT1 | c.211G>T (p.Gly71Cys) c.67G>T (p.Gly23Cys) n.491G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193327G>A | CA352913316 | GNAT1 | c.212G>A (p.Gly71Asp) c.68G>A (p.Gly23Asp) n.492G>A | gnomAD v4 |
| 3 | g.50193327G>C | CA352913321 | GNAT1 | c.212G>C (p.Gly71Ala) c.68G>C (p.Gly23Ala) n.492G>C | |
| 3 | g.50193327G>T | CA352913330 | GNAT1 | c.212G>T (p.Gly71Val) c.68G>T (p.Gly23Val) n.492G>T | |
| 3 | g.50193328C>A | CA433860466 | GNAT1 | c.213C>A (p.Gly71=) c.69C>A (p.Gly23=) n.493C>A | COSMIC |
| 3 | g.50193328C= | CA1363836746 | GNAT1 | c.213C= (p.Gly71=) c.69C= (p.Gly23=) n.493C= | |
| 3 | g.50193328C>G | CA433860467 | GNAT1 | c.213C>G (p.Gly71=) c.69C>G (p.Gly23=) n.493C>G | dbSNP gnomAD v4 |
| 3 | g.50193328C>T | CA433860468 | GNAT1 | c.213C>T (p.Gly71=) c.69C>T (p.Gly23=) n.493C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193329A= | CA1363836747 | GNAT1 | c.214A= (p.Asn72=) c.70A= (p.Asn24=) n.494A= | |
| 3 | g.50193329A>C | CA2412483 | GNAT1 | c.214A>C (p.Asn72His) c.70A>C (p.Asn24His) n.494A>C | dbSNP ExAC gnomAD v2 |
| 3 | g.50193329A>G | CA352913340 | GNAT1 | c.214A>G (p.Asn72Asp) c.70A>G (p.Asn24Asp) n.494A>G | |
| 3 | g.50193329A>T | CA352913341 | GNAT1 | c.214A>T (p.Asn72Tyr) c.70A>T (p.Asn24Tyr) n.494A>T | |
| 3 | g.50193330A>C | CA352913344 | GNAT1 | c.215A>C (p.Asn72Thr) c.71A>C (p.Asn24Thr) n.495A>C | |
| 3 | g.50193330A>G | CA352913347 | GNAT1 | c.215A>G (p.Asn72Ser) c.71A>G (p.Asn24Ser) n.495A>G | |
| 3 | g.50193330A>T | CA352913346 | GNAT1 | c.215A>T (p.Asn72Ile) c.71A>T (p.Asn24Ile) n.495A>T | |
| 3 | g.50193331C>A | CA352913349 | GNAT1 | c.216C>A (p.Asn72Lys) c.72C>A (p.Asn24Lys) n.496C>A | |
| 3 | g.50193331C>G | CA352913351 | GNAT1 | c.216C>G (p.Asn72Lys) c.72C>G (p.Asn24Lys) n.496C>G | |
| 3 | g.50193331C>T | CA433860470 | GNAT1 | c.216C>T (p.Asn72=) c.72C>T (p.Asn24=) n.496C>T | gnomAD v4 |
| 3 | g.50193332A>C | CA352913355 | GNAT1 | c.217A>C (p.Thr73Pro) c.73A>C (p.Thr25Pro) n.497A>C | |
| 3 | g.50193332A>G | CA352913360 | GNAT1 | c.217A>G (p.Thr73Ala) c.73A>G (p.Thr25Ala) n.497A>G | gnomAD v4 |
| 3 | g.50193332A>T | CA352913364 | GNAT1 | c.217A>T (p.Thr73Ser) c.73A>T (p.Thr25Ser) n.497A>T | |
| 3 | g.50193333C>A | CA352913376 | GNAT1 | c.218C>A (p.Thr73Lys) c.74C>A (p.Thr25Lys) n.498C>A | dbSNP |
| 3 | g.50193333C= | CA1363836748 | GNAT1 | c.218C= (p.Thr73=) c.74C= (p.Thr25=) n.498C= | |
| 3 | g.50193333C>G | CA352913391 | GNAT1 | c.218C>G (p.Thr73Arg) c.74C>G (p.Thr25Arg) n.498C>G | |
| 3 | g.50193333C>T | CA352913370 | GNAT1 | c.218C>T (p.Thr73Met) c.74C>T (p.Thr25Met) n.498C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.50193334G>A | CA433860476 | GNAT1 | c.219G>A (p.Thr73=) c.75G>A (p.Thr25=) n.499G>A | gnomAD v4 |
| 3 | g.50193334G>C | CA433860475 | GNAT1 | c.219G>C (p.Thr73=) c.75G>C (p.Thr25=) n.499G>C | dbSNP |
| 3 | g.50193334G= | CA1363836749 | GNAT1 | c.219G= (p.Thr73=) c.75G= (p.Thr25=) n.499G= | |
| 3 | g.50193334G>T | CA433860474 | GNAT1 | c.219G>T (p.Thr73=) c.75G>T (p.Thr25=) n.499G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193335T>A | CA352913392 | GNAT1 | c.220T>A (p.Leu74Met) c.76T>A (p.Leu26Met) n.500T>A | |
| 3 | g.50193335T>C | CA433860478 | GNAT1 | c.220T>C (p.Leu74=) c.76T>C (p.Leu26=) n.500T>C | |
| 3 | g.50193335T>G | CA352913393 | GNAT1 | c.220T>G (p.Leu74Val) c.76T>G (p.Leu26Val) n.500T>G | |
| 3 | g.50193336T>A | CA352913398 | GNAT1 | c.221T>A (p.Leu74Ter) c.77T>A (p.Leu26Ter) n.501T>A | |
| 3 | g.50193336T>C | CA352913402 | GNAT1 | c.221T>C (p.Leu74Ser) c.77T>C (p.Leu26Ser) n.501T>C | |
| 3 | g.50193336T>G | CA352913417 | GNAT1 | c.221T>G (p.Leu74Trp) c.77T>G (p.Leu26Trp) n.501T>G | |
| 3 | g.50193337G>A | CA433860482 | GNAT1 | c.222G>A (p.Leu74=) c.78G>A (p.Leu26=) n.502G>A | ClinVar |
| 3 | g.50193337G>C | CA352913422 | GNAT1 | c.222G>C (p.Leu74Phe) c.78G>C (p.Leu26Phe) n.502G>C | |
| 3 | g.50193337G>T | CA352913425 | GNAT1 | c.222G>T (p.Leu74Phe) c.78G>T (p.Leu26Phe) n.502G>T | |
| 3 | g.50193338C>A | CA352913440 | GNAT1 | c.223C>A (p.Gln75Lys) c.79C>A (p.Gln27Lys) n.503C>A | |
| 3 | g.50193338C= | CA1363836750 | GNAT1 | c.223C= (p.Gln75=) c.79C= (p.Gln27=) n.503C= | |
| 3 | g.50193338C>G | CA352913436 | GNAT1 | c.223C>G (p.Gln75Glu) c.79C>G (p.Gln27Glu) n.503C>G | |
| 3 | g.50193338C>T | CA352913438 | GNAT1 | c.223C>T (p.Gln75Ter) c.79C>T (p.Gln27Ter) n.503C>T | dbSNP |
| 3 | g.50193339A>C | CA352913445 | GNAT1 | c.224A>C (p.Gln75Pro) c.80A>C (p.Gln27Pro) n.504A>C | |
| 3 | g.50193339A>G | CA352913449 | GNAT1 | c.224A>G (p.Gln75Arg) c.80A>G (p.Gln27Arg) n.504A>G | COSMIC |
| 3 | g.50193339A>T | CA352913451 | GNAT1 | c.224A>T (p.Gln75Leu) c.80A>T (p.Gln27Leu) n.504A>T | |
| 3 | g.50193340G>A | CA2412484 | GNAT1 | c.225G>A (p.Gln75=) c.81G>A (p.Gln27=) n.505G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193340G>C | CA352913456 | GNAT1 | c.225G>C (p.Gln75His) c.81G>C (p.Gln27His) n.505G>C | |
| 3 | g.50193340G= | CA1363836751 | GNAT1 | c.225G= (p.Gln75=) c.81G= (p.Gln27=) n.505G= | |
| 3 | g.50193340G>T | CA352913460 | GNAT1 | c.225G>T (p.Gln75His) c.81G>T (p.Gln27His) n.505G>T | |
| 3 | g.50193341T>A | CA352913466 | GNAT1 | c.226T>A (p.Ser76Thr) c.82T>A (p.Ser28Thr) n.506T>A | |
| 3 | g.50193341T>C | CA352913471 | GNAT1 | c.226T>C (p.Ser76Pro) c.82T>C (p.Ser28Pro) n.506T>C | |
| 3 | g.50193341T>G | CA352913470 | GNAT1 | c.226T>G (p.Ser76Ala) c.82T>G (p.Ser28Ala) n.506T>G | |
| 3 | g.50193342C>A | CA352913478 | GNAT1 | c.227C>A (p.Ser76Tyr) c.83C>A (p.Ser28Tyr) n.507C>A | |
| 3 | g.50193342C>G | CA352913481 | GNAT1 | c.227C>G (p.Ser76Cys) c.83C>G (p.Ser28Cys) n.507C>G | |
| 3 | g.50193342C>T | CA352913484 | GNAT1 | c.227C>T (p.Ser76Phe) c.83C>T (p.Ser28Phe) n.507C>T | |
| 3 | g.50193343C>A | CA433860496 | GNAT1 | c.228C>A (p.Ser76=) c.84C>A (p.Ser28=) n.508C>A | |
| 3 | g.50193343C>G | CA433860497 | GNAT1 | c.228C>G (p.Ser76=) c.84C>G (p.Ser28=) n.508C>G | |
| 3 | g.50193343C>T | CA433860498 | GNAT1 | c.228C>T (p.Ser76=) c.84C>T (p.Ser28=) n.508C>T | gnomAD v4 |
| 3 | g.50193344A= | CA1363836752 | GNAT1 | c.229A= (p.Ile77=) c.85A= (p.Ile29=) n.509A= | |
| 3 | g.50193344A>C | CA352913487 | GNAT1 | c.229A>C (p.Ile77Leu) c.85A>C (p.Ile29Leu) n.509A>C | gnomAD v4 |
| 3 | g.50193344A>G | CA352913489 | GNAT1 | c.229A>G (p.Ile77Val) c.85A>G (p.Ile29Val) n.509A>G | |
| 3 | g.50193344A>T | CA2412485 | GNAT1 | c.229A>T (p.Ile77Phe) c.85A>T (p.Ile29Phe) n.509A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193345T>A | CA352913498 | GNAT1 | c.230T>A (p.Ile77Asn) c.86T>A (p.Ile29Asn) n.510T>A | |
| 3 | g.50193345T>C | CA352913502 | GNAT1 | c.230T>C (p.Ile77Thr) c.86T>C (p.Ile29Thr) n.510T>C | |
| 3 | g.50193345T>G | CA352913512 | GNAT1 | c.230T>G (p.Ile77Ser) c.86T>G (p.Ile29Ser) n.510T>G | |
| 3 | g.50193346C>A | CA433860501 | GNAT1 | c.231C>A (p.Ile77=) c.87C>A (p.Ile29=) n.511C>A | |
| 3 | g.50193346C= | CA1363836753 | GNAT1 | c.231C= (p.Ile77=) c.87C= (p.Ile29=) n.511C= | |
| 3 | g.50193346C>G | CA2412486 | GNAT1 | c.231C>G (p.Ile77Met) c.87C>G (p.Ile29Met) n.511C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193346C>T | CA74601094 | GNAT1 | c.231C>T (p.Ile77=) c.87C>T (p.Ile29=) n.511C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.50193347C>A | CA352913517 | GNAT1 | c.232C>A (p.Leu78Met) c.88C>A (p.Leu30Met) n.512C>A | |
| 3 | g.50193347C>G | CA352913530 | GNAT1 | c.232C>G (p.Leu78Val) c.88C>G (p.Leu30Val) n.512C>G | gnomAD v4 |
| 3 | g.50193347C>T | CA433860503 | GNAT1 | c.232C>T (p.Leu78=) c.88C>T (p.Leu30=) n.512C>T | COSMIC |
| 3 | g.50193348T>A | CA2412487 | GNAT1 | c.233T>A (p.Leu78Gln) c.89T>A (p.Leu30Gln) n.513T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193348T>C | CA352913540 | GNAT1 | c.233T>C (p.Leu78Pro) c.89T>C (p.Leu30Pro) n.513T>C | |
| 3 | g.50193348T>G | CA352913536 | GNAT1 | c.233T>G (p.Leu78Arg) c.89T>G (p.Leu30Arg) n.513T>G | |
| 3 | g.50193348T= | CA1363836754 | GNAT1 | c.233T= (p.Leu78=) c.89T= (p.Leu30=) n.513T= | |
| 3 | g.50193349G>A | CA433860506 | GNAT1 | c.234G>A (p.Leu78=) c.90G>A (p.Leu30=) n.514G>A | |
| 3 | g.50193349G>C | CA433860508 | GNAT1 | c.234G>C (p.Leu78=) c.90G>C (p.Leu30=) n.514G>C | |
| 3 | g.50193349G>T | CA433860510 | GNAT1 | c.234G>T (p.Leu78=) c.90G>T (p.Leu30=) n.514G>T | gnomAD v4 |
| 3 | g.50193350G>A | CA352913547 | GNAT1 | c.235G>A (p.Ala79Thr) c.91G>A (p.Ala31Thr) n.515G>A | |
| 3 | g.50193350G>C | CA352913549 | GNAT1 | c.235G>C (p.Ala79Pro) c.91G>C (p.Ala31Pro) n.515G>C | |
| 3 | g.50193350G>T | CA352913569 | GNAT1 | c.235G>T (p.Ala79Ser) c.91G>T (p.Ala31Ser) n.515G>T | |
| 3 | g.50193355_50193366del | CA2665815203 | GNAT1 | c.240_251del (p.Ile80_Ala83del) c.96_107del (p.Ile32_Ala35del) n.520_531del | gnomAD v4 |
| 3 | g.50193351C>A | CA352913574 | GNAT1 | c.236C>A (p.Ala79Asp) c.92C>A (p.Ala31Asp) n.516C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193351C= | CA1363836755 | GNAT1 | c.236C= (p.Ala79=) c.92C= (p.Ala31=) n.516C= | |
| 3 | g.50193351C>G | CA2412488 | GNAT1 | c.236C>G (p.Ala79Gly) c.92C>G (p.Ala31Gly) n.516C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193351C>T | CA352913583 | GNAT1 | c.236C>T (p.Ala79Val) c.92C>T (p.Ala31Val) n.516C>T | |
| 3 | g.50193352C>A | CA433860512 | GNAT1 | c.237C>A (p.Ala79=) c.93C>A (p.Ala31=) n.517C>A | |
| 3 | g.50193352C= | CA1363836756 | GNAT1 | c.237C= (p.Ala79=) c.93C= (p.Ala31=) n.517C= | |
| 3 | g.50193352C>G | CA433860515 | GNAT1 | c.237C>G (p.Ala79=) c.93C>G (p.Ala31=) n.517C>G | |
| 3 | g.50193352C>T | CA433860517 | GNAT1 | c.237C>T (p.Ala79=) c.93C>T (p.Ala31=) n.517C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193353A>C | CA352913590 | GNAT1 | c.238A>C (p.Ile80Leu) c.94A>C (p.Ile32Leu) n.518A>C | |
| 3 | g.50193353A>G | CA352913594 | GNAT1 | c.238A>G (p.Ile80Val) c.94A>G (p.Ile32Val) n.518A>G | |
| 3 | g.50193353A>T | CA352913597 | GNAT1 | c.238A>T (p.Ile80Phe) c.94A>T (p.Ile32Phe) n.518A>T | |
| 3 | g.50193354T>A | CA352913603 | GNAT1 | c.239T>A (p.Ile80Asn) c.95T>A (p.Ile32Asn) n.519T>A | |
| 3 | g.50193354T>C | CA352913605 | GNAT1 | c.239T>C (p.Ile80Thr) c.95T>C (p.Ile32Thr) n.519T>C | gnomAD v4 |
| 3 | g.50193354T>G | CA352913606 | GNAT1 | c.239T>G (p.Ile80Ser) c.95T>G (p.Ile32Ser) n.519T>G | |
| 3 | g.50193355C>A | CA433860523 | GNAT1 | c.240C>A (p.Ile80=) c.96C>A (p.Ile32=) n.520C>A | |
| 3 | g.50193355C= | CA1363836757 | GNAT1 | c.240C= (p.Ile80=) c.96C= (p.Ile32=) n.520C= | |
| 3 | g.50193355C>G | CA352913609 | GNAT1 | c.240C>G (p.Ile80Met) c.96C>G (p.Ile32Met) n.520C>G | dbSNP |
| 3 | g.50193355C>T | CA433860522 | GNAT1 | c.240C>T (p.Ile80=) c.96C>T (p.Ile32=) n.520C>T | dbSNP gnomAD v4 |
| 3 | g.50193356G>A | CA2412489 | GNAT1 | c.241G>A (p.Val81Ile) c.97G>A (p.Val33Ile) n.521G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193356G>C | CA2412490 | GNAT1 | c.241G>C (p.Val81Leu) c.97G>C (p.Val33Leu) n.521G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193356G= | CA1363836758 | GNAT1 | c.241G= (p.Val81=) c.97G= (p.Val33=) n.521G= | |
| 3 | g.50193356G>T | CA352913615 | GNAT1 | c.241G>T (p.Val81Leu) c.97G>T (p.Val33Leu) n.521G>T | |
| 3 | g.50193357T>A | CA352913621 | GNAT1 | c.242T>A (p.Val81Glu) c.98T>A (p.Val33Glu) n.522T>A | |
| 3 | g.50193357T>C | CA352913624 | GNAT1 | c.242T>C (p.Val81Ala) c.98T>C (p.Val33Ala) n.522T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193357T>G | CA352913626 | GNAT1 | c.242T>G (p.Val81Gly) c.98T>G (p.Val33Gly) n.522T>G | |
| 3 | g.50193357T= | CA1363836759 | GNAT1 | c.242T= (p.Val81=) c.98T= (p.Val33=) n.522T= | |
| 3 | g.50193358A>C | CA433860536 | GNAT1 | c.243A>C (p.Val81=) c.99A>C (p.Val33=) n.523A>C | |
| 3 | g.50193358A>G | CA433860535 | GNAT1 | c.243A>G (p.Val81=) c.99A>G (p.Val33=) n.523A>G | |
| 3 | g.50193358A>T | CA433860533 | GNAT1 | c.243A>T (p.Val81=) c.99A>T (p.Val33=) n.523A>T | |
| 3 | g.50193359C>A | CA352913631 | GNAT1 | c.244C>A (p.Arg82Ser) c.100C>A (p.Arg34Ser) n.524C>A | dbSNP |
| 3 | g.50193359C= | CA1363836760 | GNAT1 | c.244C= (p.Arg82=) c.100C= (p.Arg34=) n.524C= | |
| 3 | g.50193359C>G | CA352913637 | GNAT1 | c.244C>G (p.Arg82Gly) c.100C>G (p.Arg34Gly) n.524C>G | |
| 3 | g.50193359C>T | CA352913641 | GNAT1 | c.244C>T (p.Arg82Cys) c.100C>T (p.Arg34Cys) n.524C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193360del | CA2665815223 | GNAT1 | c.245del (p.Arg82ProfsTer3) c.101del (p.Arg34ProfsTer3) n.525del | gnomAD v4 |
| 3 | g.50193360G>A | CA352913645 | GNAT1 | c.245G>A (p.Arg82His) c.101G>A (p.Arg34His) n.525G>A | dbSNP gnomAD v4 |
| 3 | g.50193360G>C | CA352913651 | GNAT1 | c.245G>C (p.Arg82Pro) c.101G>C (p.Arg34Pro) n.525G>C | |
| 3 | g.50193360G= | CA1363836761 | GNAT1 | c.245G= (p.Arg82=) c.101G= (p.Arg34=) n.525G= | |
| 3 | g.50193360G>T | CA352913653 | GNAT1 | c.245G>T (p.Arg82Leu) c.101G>T (p.Arg34Leu) n.525G>T | |
| 3 | g.50193361C>A | CA433860541 | GNAT1 | c.246C>A (p.Arg82=) c.102C>A (p.Arg34=) n.526C>A | |
| 3 | g.50193361C>G | CA433860544 | GNAT1 | c.246C>G (p.Arg82=) c.102C>G (p.Arg34=) n.526C>G | |
| 3 | g.50193361C>T | CA433860543 | GNAT1 | c.246C>T (p.Arg82=) c.102C>T (p.Arg34=) n.526C>T | COSMIC |
| 3 | g.50193362G>A | CA352913660 | GNAT1 | c.247G>A (p.Ala83Thr) c.103G>A (p.Ala35Thr) n.527G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.50193362G>C | CA352913665 | GNAT1 | c.247G>C (p.Ala83Pro) c.103G>C (p.Ala35Pro) n.527G>C | |
| 3 | g.50193362G= | CA1363836762 | GNAT1 | c.247G= (p.Ala83=) c.103G= (p.Ala35=) n.527G= | |
| 3 | g.50193362G>T | CA352913666 | GNAT1 | c.247G>T (p.Ala83Ser) c.103G>T (p.Ala35Ser) n.527G>T | COSMIC |
| 3 | g.50193363C>A | CA352913676 | GNAT1 | c.248C>A (p.Ala83Asp) c.104C>A (p.Ala35Asp) n.528C>A | |
| 3 | g.50193363C= | CA1363836763 | GNAT1 | c.248C= (p.Ala83=) c.104C= (p.Ala35=) n.528C= | |
| 3 | g.50193363C>G | CA352913670 | GNAT1 | c.248C>G (p.Ala83Gly) c.104C>G (p.Ala35Gly) n.528C>G | |
| 3 | g.50193363C>T | CA352913672 | GNAT1 | c.248C>T (p.Ala83Val) c.104C>T (p.Ala35Val) n.528C>T | dbSNP gnomAD v4 |
| 3 | g.50193364C>A | CA433860551 | GNAT1 | c.249C>A (p.Ala83=) c.105C>A (p.Ala35=) n.529C>A | |
| 3 | g.50193364C>G | CA433860552 | GNAT1 | c.249C>G (p.Ala83=) c.105C>G (p.Ala35=) n.529C>G | gnomAD v4 |
| 3 | g.50193364C>T | CA433860553 | GNAT1 | c.249C>T (p.Ala83=) c.105C>T (p.Ala35=) n.529C>T | |
| 3 | g.50193365A>C | CA352913692 | GNAT1 | c.250A>C (p.Met84Leu) c.106A>C (p.Met36Leu) n.530A>C | |
| 3 | g.50193365A>G | CA352913700 | GNAT1 | c.250A>G (p.Met84Val) c.106A>G (p.Met36Val) n.530A>G | |
| 3 | g.50193365A>T | CA352913696 | GNAT1 | c.250A>T (p.Met84Leu) c.106A>T (p.Met36Leu) n.530A>T | |
| 3 | g.50193366T>A | CA352913708 | GNAT1 | c.251T>A (p.Met84Lys) c.107T>A (p.Met36Lys) n.531T>A | gnomAD v4 |
| 3 | g.50193366T>C | CA352913714 | GNAT1 | c.251T>C (p.Met84Thr) c.107T>C (p.Met36Thr) n.531T>C | gnomAD v4 |
| 3 | g.50193366T>G | CA352913725 | GNAT1 | c.251T>G (p.Met84Arg) c.107T>G (p.Met36Arg) n.531T>G | |
| 3 | g.50193367G>A | CA352913734 | GNAT1 | c.252G>A (p.Met84Ile) c.108G>A (p.Met36Ile) n.532G>A | |
| 3 | g.50193367G>C | CA352913737 | GNAT1 | c.252G>C (p.Met84Ile) c.108G>C (p.Met36Ile) n.532G>C | |
| 3 | g.50193367G>T | CA352913744 | GNAT1 | c.252G>T (p.Met84Ile) c.108G>T (p.Met36Ile) n.532G>T | |
| 3 | g.50193368A= | CA1363836764 | GNAT1 | c.253A= (p.Thr85=) c.109A= (p.Thr37=) n.533A= | |
| 3 | g.50193368A>C | CA352913751 | GNAT1 | c.253A>C (p.Thr85Pro) c.109A>C (p.Thr37Pro) n.533A>C | dbSNP |
| 3 | g.50193368A>G | CA352913756 | GNAT1 | c.253A>G (p.Thr85Ala) c.109A>G (p.Thr37Ala) n.533A>G | |
| 3 | g.50193368A>T | CA352913758 | GNAT1 | c.253A>T (p.Thr85Ser) c.109A>T (p.Thr37Ser) n.533A>T | |
| 3 | g.50193370_50193388del | CA2499216917 | GNAT1 | c.255_273del (p.Thr86GlufsTer12) c.111_129del (p.Thr38GlufsTer12) n.535_553del | ClinVar dbSNP |