OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.18400465_18400497delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG | CA1768218995 | NAT2 | c.462_494delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG (p.Glu154=) c.72_104delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG (p.Glu24=) | |
| 8 | g.18400473_18400504del | CA1768218996 | NAT2 | c.470_501del (p.Gly157AlafsTer10) c.80_111del (p.Gly27AlafsTer10) | dbSNP |
| 8 | g.18400482A>C | CA370635972 | NAT2 | c.479A>C (p.Tyr160Ser) c.89A>C (p.Tyr30Ser) | |
| 8 | g.18400482A>G | CA370635971 | NAT2 | c.479A>G (p.Tyr160Cys) c.89A>G (p.Tyr30Cys) | |
| 8 | g.18400482A>T | CA370635970 | NAT2 | c.479A>T (p.Tyr160Phe) c.89A>T (p.Tyr30Phe) | |
| 8 | g.18400483C>A | CA370635973 | NAT2 | c.480C>A (p.Tyr160Ter) c.90C>A (p.Tyr30Ter) | |
| 8 | g.18400483C= | CA1768219005 | NAT2 | c.480C= (p.Tyr160=) c.90C= (p.Tyr30=) | |
| 8 | g.18400483C>G | CA370635974 | NAT2 | c.480C>G (p.Tyr160Ter) c.90C>G (p.Tyr30Ter) | |
| 8 | g.18400483C>T | CA173519924 | NAT2 | c.480C>T (p.Tyr160=) c.90C>T (p.Tyr30=) | dbSNP |
| 8 | g.18400484C>A | CA370635975 | NAT2 | c.481C>A (p.Leu161Met) c.91C>A (p.Leu31Met) | |
| 8 | g.18400484C= | CA1768219006 | NAT2 | c.481C= (p.Leu161=) c.91C= (p.Leu31=) | |
| 8 | g.18400484C>G | CA370635976 | NAT2 | c.481C>G (p.Leu161Val) c.91C>G (p.Leu31Val) | |
| 8 | g.18400484C>T | CA4651631 | NAT2 | c.481C>T (p.Leu161=) c.91C>T (p.Leu31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400485T>A | CA370635977 | NAT2 | c.482T>A (p.Leu161Gln) c.92T>A (p.Leu31Gln) | |
| 8 | g.18400485T>C | CA370635978 | NAT2 | c.482T>C (p.Leu161Pro) c.92T>C (p.Leu31Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400485T>G | CA370635979 | NAT2 | c.482T>G (p.Leu161Arg) c.92T>G (p.Leu31Arg) | |
| 8 | g.18400485T= | CA1768219007 | NAT2 | c.482T= (p.Leu161=) c.92T= (p.Leu31=) | |
| 8 | g.18400486G>A | CA459881143 | NAT2 | c.483G>A (p.Leu161=) c.93G>A (p.Leu31=) | gnomAD v4 |
| 8 | g.18400486G>C | CA459881141 | NAT2 | c.483G>C (p.Leu161=) c.93G>C (p.Leu31=) | |
| 8 | g.18400486G>T | CA459881142 | NAT2 | c.483G>T (p.Leu161=) c.93G>T (p.Leu31=) | |
| 8 | g.18400487G>A | CA370635980 | NAT2 | c.484G>A (p.Asp162Asn) c.94G>A (p.Asp32Asn) | |
| 8 | g.18400487G>C | CA370635981 | NAT2 | c.484G>C (p.Asp162His) c.94G>C (p.Asp32His) | gnomAD v4 |
| 8 | g.18400487G>T | CA370635982 | NAT2 | c.484G>T (p.Asp162Tyr) c.94G>T (p.Asp32Tyr) | |
| 8 | g.18400488A>C | CA370635985 | NAT2 | c.485A>C (p.Asp162Ala) c.95A>C (p.Asp32Ala) | gnomAD v4 |
| 8 | g.18400488A>G | CA370635984 | NAT2 | c.485A>G (p.Asp162Gly) c.95A>G (p.Asp32Gly) | |
| 8 | g.18400488A>T | CA370635983 | NAT2 | c.485A>T (p.Asp162Val) c.95A>T (p.Asp32Val) | |
| 8 | g.18400489C>A | CA370635986 | NAT2 | c.486C>A (p.Asp162Glu) c.96C>A (p.Asp32Glu) | |
| 8 | g.18400489C= | CA1768219008 | NAT2 | c.486C= (p.Asp162=) c.96C= (p.Asp32=) | |
| 8 | g.18400489C>G | CA173519925 | NAT2 | c.486C>G (p.Asp162Glu) c.96C>G (p.Asp32Glu) | dbSNP |
| 8 | g.18400489C>T | CA459881144 | NAT2 | c.486C>T (p.Asp162=) c.96C>T (p.Asp32=) | |
| 8 | g.18400490C>A | CA370635987 | NAT2 | c.487C>A (p.Gln163Lys) c.97C>A (p.Gln33Lys) | gnomAD v4 |
| 8 | g.18400490C>G | CA370635988 | NAT2 | c.487C>G (p.Gln163Glu) c.97C>G (p.Gln33Glu) | |
| 8 | g.18400490C>T | CA370635989 | NAT2 | c.487C>T (p.Gln163Ter) c.97C>T (p.Gln33Ter) | COSMIC |
| 8 | g.18400491A>C | CA370635990 | NAT2 | c.488A>C (p.Gln163Pro) c.98A>C (p.Gln33Pro) | |
| 8 | g.18400491A>G | CA370635991 | NAT2 | c.488A>G (p.Gln163Arg) c.98A>G (p.Gln33Arg) | |
| 8 | g.18400491A>T | CA370635992 | NAT2 | c.488A>T (p.Gln163Leu) c.98A>T (p.Gln33Leu) | |
| 8 | g.18400492A>C | CA370635993 | NAT2 | c.489A>C (p.Gln163His) c.99A>C (p.Gln33His) | |
| 8 | g.18400492A>G | CA459881145 | NAT2 | c.489A>G (p.Gln163=) c.99A>G (p.Gln33=) | |
| 8 | g.18400492A>T | CA370635994 | NAT2 | c.489A>T (p.Gln163His) c.99A>T (p.Gln33His) | |
| 8 | g.18400493A>C | CA370635995 | NAT2 | c.490A>C (p.Ile164Leu) c.100A>C (p.Ile34Leu) | |
| 8 | g.18400493A>G | CA370635996 | NAT2 | c.490A>G (p.Ile164Val) c.100A>G (p.Ile34Val) | |
| 8 | g.18400493A>T | CA370635997 | NAT2 | c.490A>T (p.Ile164Phe) c.100A>T (p.Ile34Phe) | |
| 8 | g.18400494T>A | CA370635999 | NAT2 | c.491T>A (p.Ile164Asn) c.101T>A (p.Ile34Asn) | |
| 8 | g.18400494T>C | CA4651632 | NAT2 | c.491T>C (p.Ile164Thr) c.101T>C (p.Ile34Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.18400494T>G | CA370635998 | NAT2 | c.491T>G (p.Ile164Ser) c.101T>G (p.Ile34Ser) | |
| 8 | g.18400494T= | CA1768219009 | NAT2 | c.491T= (p.Ile164=) c.101T= (p.Ile34=) | |
| 8 | g.18400495C>A | CA459881146 | NAT2 | c.492C>A (p.Ile164=) c.102C>A (p.Ile34=) | |
| 8 | g.18400495C>G | CA370636000 | NAT2 | c.492C>G (p.Ile164Met) c.102C>G (p.Ile34Met) | |
| 8 | g.18400495C>T | CA459881147 | NAT2 | c.492C>T (p.Ile164=) c.102C>T (p.Ile34=) | |
| 8 | g.18400496A= | CA1768219010 | NAT2 | c.493A= (p.Arg165=) c.103A= (p.Arg35=) | |
| 8 | g.18400496A>C | CA459881148 | NAT2 | c.493A>C (p.Arg165=) c.103A>C (p.Arg35=) | |
| 8 | g.18400496A>G | CA370636001 | NAT2 | c.493A>G (p.Arg165Gly) c.103A>G (p.Arg35Gly) | |
| 8 | g.18400496A>T | CA370636002 | NAT2 | c.493A>T (p.Arg165Trp) c.103A>T (p.Arg35Trp) | dbSNP COSMIC |
| 8 | g.18400497G>A | CA370636003 | NAT2 | c.494G>A (p.Arg165Lys) c.104G>A (p.Arg35Lys) | COSMIC |
| 8 | g.18400497G>C | CA370636004 | NAT2 | c.494G>C (p.Arg165Thr) c.104G>C (p.Arg35Thr) | |
| 8 | g.18400497G>T | CA370636005 | NAT2 | c.494G>T (p.Arg165Met) c.104G>T (p.Arg35Met) | |
| 8 | g.18400498G>A | CA459881149 | NAT2 | c.495G>A (p.Arg165=) c.105G>A (p.Arg35=) | |
| 8 | g.18400498G>C | CA370636006 | NAT2 | c.495G>C (p.Arg165Ser) c.105G>C (p.Arg35Ser) | |
| 8 | g.18400498G>T | CA370636007 | NAT2 | c.495G>T (p.Arg165Ser) c.105G>T (p.Arg35Ser) | gnomAD v4 |
| 8 | g.18400499A= | CA1768219011 | NAT2 | c.496A= (p.Arg166=) c.106A= (p.Arg36=) | |
| 8 | g.18400499A>C | CA459881150 | NAT2 | c.496A>C (p.Arg166=) c.106A>C (p.Arg36=) | |
| 8 | g.18400499A>G | CA370636008 | NAT2 | c.496A>G (p.Arg166Gly) c.106A>G (p.Arg36Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400499A>T | CA370636009 | NAT2 | c.496A>T (p.Arg166Ter) c.106A>T (p.Arg36Ter) | gnomAD v4 |
| 8 | g.18400500G>A | CA370636010 | NAT2 | c.497G>A (p.Arg166Lys) c.107G>A (p.Arg36Lys) | gnomAD v4 |
| 8 | g.18400500G>C | CA370636011 | NAT2 | c.497G>C (p.Arg166Thr) c.107G>C (p.Arg36Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400500G= | CA1768219012 | NAT2 | c.497G= (p.Arg166=) c.107G= (p.Arg36=) | |
| 8 | g.18400500G>T | CA370636012 | NAT2 | c.497G>T (p.Arg166Ile) c.107G>T (p.Arg36Ile) | |
| 8 | g.18400501A>C | CA370636013 | NAT2 | c.498A>C (p.Arg166Ser) c.108A>C (p.Arg36Ser) | |
| 8 | g.18400501A>G | CA459881151 | NAT2 | c.498A>G (p.Arg166=) c.108A>G (p.Arg36=) | |
| 8 | g.18400501A>T | CA370636014 | NAT2 | c.498A>T (p.Arg166Ser) c.108A>T (p.Arg36Ser) | |
| 8 | g.18400502G>A | CA4651633 | NAT2 | c.499G>A (p.Glu167Lys) c.109G>A (p.Glu37Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400502G>C | CA4651634 | NAT2 | c.499G>C (p.Glu167Gln) c.109G>C (p.Glu37Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400502G= | CA1768219013 | NAT2 | c.499G= (p.Glu167=) c.109G= (p.Glu37=) | |
| 8 | g.18400502G>T | CA370636015 | NAT2 | c.499G>T (p.Glu167Ter) c.109G>T (p.Glu37Ter) | |
| 8 | g.18400503A>C | CA370636016 | NAT2 | c.500A>C (p.Glu167Ala) c.110A>C (p.Glu37Ala) | |
| 8 | g.18400503A>G | CA370636017 | NAT2 | c.500A>G (p.Glu167Gly) c.110A>G (p.Glu37Gly) | |
| 8 | g.18400503A>T | CA370636018 | NAT2 | c.500A>T (p.Glu167Val) c.110A>T (p.Glu37Val) | |
| 8 | g.18400504G>A | CA459881152 | NAT2 | c.501G>A (p.Glu167=) c.111G>A (p.Glu37=) | gnomAD v4 |
| 8 | g.18400504G>C | CA370636019 | NAT2 | c.501G>C (p.Glu167Asp) c.111G>C (p.Glu37Asp) | gnomAD v4 |
| 8 | g.18400504G>T | CA370636020 | NAT2 | c.501G>T (p.Glu167Asp) c.111G>T (p.Glu37Asp) | |
| 8 | g.18400505C>A | CA370636021 | NAT2 | c.502C>A (p.Gln168Lys) c.112C>A (p.Gln38Lys) | gnomAD v4 |
| 8 | g.18400505C>G | CA370636022 | NAT2 | c.502C>G (p.Gln168Glu) c.112C>G (p.Gln38Glu) | gnomAD v4 |
| 8 | g.18400505C>T | CA370636023 | NAT2 | c.502C>T (p.Gln168Ter) c.112C>T (p.Gln38Ter) | gnomAD v4 |
| 8 | g.18400506A>C | CA370636024 | NAT2 | c.503A>C (p.Gln168Pro) c.113A>C (p.Gln38Pro) | |
| 8 | g.18400506A>G | CA370636025 | NAT2 | c.503A>G (p.Gln168Arg) c.113A>G (p.Gln38Arg) | |
| 8 | g.18400506A>T | CA370636026 | NAT2 | c.503A>T (p.Gln168Leu) c.113A>T (p.Gln38Leu) | gnomAD v4 |
| 8 | g.18400507G>A | CA459881153 | NAT2 | c.504G>A (p.Gln168=) c.114G>A (p.Gln38=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400507G>C | CA370636028 | NAT2 | c.504G>C (p.Gln168His) c.114G>C (p.Gln38His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400507G= | CA1768219014 | NAT2 | c.504G= (p.Gln168=) c.114G= (p.Gln38=) | |
| 8 | g.18400507G>T | CA370636027 | NAT2 | c.504G>T (p.Gln168His) c.114G>T (p.Gln38His) | |
| 8 | g.18400508T>A | CA370636029 | NAT2 | c.505T>A (p.Tyr169Asn) c.115T>A (p.Tyr39Asn) | |
| 8 | g.18400508T>C | CA370636030 | NAT2 | c.505T>C (p.Tyr169His) c.115T>C (p.Tyr39His) | ClinVar |
| 8 | g.18400508T>G | CA370636031 | NAT2 | c.505T>G (p.Tyr169Asp) c.115T>G (p.Tyr39Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400508T= | CA1768219015 | NAT2 | c.505T= (p.Tyr169=) c.115T= (p.Tyr39=) | |
| 8 | g.18400509A= | CA1768219016 | NAT2 | c.506A= (p.Tyr169=) c.116A= (p.Tyr39=) | |
| 8 | g.18400509A>C | CA370636032 | NAT2 | c.506A>C (p.Tyr169Ser) c.116A>C (p.Tyr39Ser) | |
| 8 | g.18400509A>G | CA173519926 | NAT2 | c.506A>G (p.Tyr169Cys) c.116A>G (p.Tyr39Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400509A>T | CA370636033 | NAT2 | c.506A>T (p.Tyr169Phe) c.116A>T (p.Tyr39Phe) | |
| 8 | g.18400510T>A | CA370636034 | NAT2 | c.507T>A (p.Tyr169Ter) c.117T>A (p.Tyr39Ter) | |
| 8 | g.18400510T>C | CA459881154 | NAT2 | c.507T>C (p.Tyr169=) c.117T>C (p.Tyr39=) | dbSNP gnomAD v4 |
| 8 | g.18400510T>G | CA370636035 | NAT2 | c.507T>G (p.Tyr169Ter) c.117T>G (p.Tyr39Ter) | |
| 8 | g.18400510T= | CA1768219017 | NAT2 | c.507T= (p.Tyr169=) c.117T= (p.Tyr39=) | |
| 8 | g.18400511A>C | CA370636036 | NAT2 | c.508A>C (p.Ile170Leu) c.118A>C (p.Ile40Leu) | |
| 8 | g.18400511A>G | CA370636038 | NAT2 | c.508A>G (p.Ile170Val) c.118A>G (p.Ile40Val) | gnomAD v4 |
| 8 | g.18400511A>T | CA370636037 | NAT2 | c.508A>T (p.Ile170Phe) c.118A>T (p.Ile40Phe) | |
| 8 | g.18400512T>A | CA370636039 | NAT2 | c.509T>A (p.Ile170Asn) c.119T>A (p.Ile40Asn) | |
| 8 | g.18400512T>C | CA370636040 | NAT2 | c.509T>C (p.Ile170Thr) c.119T>C (p.Ile40Thr) | |
| 8 | g.18400512T>G | CA370636041 | NAT2 | c.509T>G (p.Ile170Ser) c.119T>G (p.Ile40Ser) | |
| 8 | g.18400513T>A | CA459881155 | NAT2 | c.510T>A (p.Ile170=) c.120T>A (p.Ile40=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400513T>C | CA459881156 | NAT2 | c.510T>C (p.Ile170=) c.120T>C (p.Ile40=) | |
| 8 | g.18400513T>G | CA370636042 | NAT2 | c.510T>G (p.Ile170Met) c.120T>G (p.Ile40Met) | |
| 8 | g.18400513T= | CA1768219018 | NAT2 | c.510T= (p.Ile170=) c.120T= (p.Ile40=) | |
| 8 | g.18400513_18400517delinsTACAA | CA1768219019 | NAT2 | c.510_514delinsTACAA (p.Ile170=) c.120_124delinsTACAA (p.Ile40=) | |
| 8 | g.18400514A>C | CA370636043 | NAT2 | c.511A>C (p.Thr171Pro) c.121A>C (p.Thr41Pro) | dbSNP |
| 8 | g.18400514A>G | CA370636045 | NAT2 | c.511A>G (p.Thr171Ala) c.121A>G (p.Thr41Ala) | |
| 8 | g.18400514A>T | CA370636044 | NAT2 | c.511A>T (p.Thr171Ser) c.121A>T (p.Thr41Ser) | |
| 8 | g.18400519_18400522del | CA1768219020 | NAT2 | c.516_519del (p.Asn172LysfsTer?) c.126_129del (p.Asn42LysfsTer?) | dbSNP gnomAD v4 |
| 8 | g.18400515C>A | CA370636046 | NAT2 | c.512C>A (p.Thr171Lys) c.122C>A (p.Thr41Lys) | |
| 8 | g.18400515C= | CA1768219021 | NAT2 | c.512C= (p.Thr171=) c.122C= (p.Thr41=) | |
| 8 | g.18400515C>G | CA370636047 | NAT2 | c.512C>G (p.Thr171Arg) c.122C>G (p.Thr41Arg) | |
| 8 | g.18400515C>T | CA173519927 | NAT2 | c.512C>T (p.Thr171Ile) c.122C>T (p.Thr41Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400516A>C | CA459881157 | NAT2 | c.513A>C (p.Thr171=) c.123A>C (p.Thr41=) | |
| 8 | g.18400516A>G | CA459881158 | NAT2 | c.513A>G (p.Thr171=) c.123A>G (p.Thr41=) | |
| 8 | g.18400516A>T | CA459881159 | NAT2 | c.513A>T (p.Thr171=) c.123A>T (p.Thr41=) | |
| 8 | g.18400517A>C | CA370636048 | NAT2 | c.514A>C (p.Asn172His) c.124A>C (p.Asn42His) | |
| 8 | g.18400517A>G | CA370636049 | NAT2 | c.514A>G (p.Asn172Asp) c.124A>G (p.Asn42Asp) | |
| 8 | g.18400517A>T | CA370636050 | NAT2 | c.514A>T (p.Asn172Tyr) c.124A>T (p.Asn42Tyr) | |
| 8 | g.18400518A>C | CA370636051 | NAT2 | c.515A>C (p.Asn172Thr) c.125A>C (p.Asn42Thr) | |
| 8 | g.18400518A>G | CA370636052 | NAT2 | c.515A>G (p.Asn172Ser) c.125A>G (p.Asn42Ser) | |
| 8 | g.18400518A>T | CA370636053 | NAT2 | c.515A>T (p.Asn172Ile) c.125A>T (p.Asn42Ile) | |
| 8 | g.18400519C>A | CA370636054 | NAT2 | c.516C>A (p.Asn172Lys) c.126C>A (p.Asn42Lys) | |
| 8 | g.18400519C= | CA1768219022 | NAT2 | c.516C= (p.Asn172=) c.126C= (p.Asn42=) | |
| 8 | g.18400519C>G | CA370636055 | NAT2 | c.516C>G (p.Asn172Lys) c.126C>G (p.Asn42Lys) | gnomAD v4 |
| 8 | g.18400519C>T | CA459881160 | NAT2 | c.516C>T (p.Asn172=) c.126C>T (p.Asn42=) | dbSNP gnomAD v4 |
| 8 | g.18400520A= | CA1768219023 | NAT2 | c.517A= (p.Lys173=) c.127A= (p.Lys43=) | |
| 8 | g.18400520A>C | CA173519928 | NAT2 | c.517A>C (p.Lys173Gln) c.127A>C (p.Lys43Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400520A>G | CA370636057 | NAT2 | c.517A>G (p.Lys173Glu) c.127A>G (p.Lys43Glu) | dbSNP |
| 8 | g.18400520A>T | CA370636056 | NAT2 | c.517A>T (p.Lys173Ter) c.127A>T (p.Lys43Ter) | |
| 8 | g.18400522_18400525del | CA2686326439 | NAT2 | c.519_522del (p.Lys173AsnfsTer?) c.129_132del (p.Lys43AsnfsTer?) | gnomAD v4 |
| 8 | g.18400521A= | CA1768219024 | NAT2 | c.518A= (p.Lys173=) c.128A= (p.Lys43=) | |
| 8 | g.18400521A>C | CA370636058 | NAT2 | c.518A>C (p.Lys173Thr) c.128A>C (p.Lys43Thr) | |
| 8 | g.18400521A>G | CA4651635 | NAT2 | c.518A>G (p.Lys173Arg) c.128A>G (p.Lys43Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400521A>T | CA370636059 | NAT2 | c.518A>T (p.Lys173Ile) c.128A>T (p.Lys43Ile) | |
| 8 | g.18400522A>C | CA370636060 | NAT2 | c.519A>C (p.Lys173Asn) c.129A>C (p.Lys43Asn) | |
| 8 | g.18400522A>G | CA459881161 | NAT2 | c.519A>G (p.Lys173=) c.129A>G (p.Lys43=) | |
| 8 | g.18400522A>T | CA370636061 | NAT2 | c.519A>T (p.Lys173Asn) c.129A>T (p.Lys43Asn) | |
| 8 | g.18400523G>A | CA4651636 | NAT2 | c.520G>A (p.Glu174Lys) c.130G>A (p.Glu44Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400523G>C | CA370636063 | NAT2 | c.520G>C (p.Glu174Gln) c.130G>C (p.Glu44Gln) | |
| 8 | g.18400523G= | CA1768219025 | NAT2 | c.520G= (p.Glu174=) c.130G= (p.Glu44=) | |
| 8 | g.18400523G>T | CA370636062 | NAT2 | c.520G>T (p.Glu174Ter) c.130G>T (p.Glu44Ter) | dbSNP gnomAD v4 COSMIC |
| 8 | g.18400524A>C | CA370636064 | NAT2 | c.521A>C (p.Glu174Ala) c.131A>C (p.Glu44Ala) | |
| 8 | g.18400524A>G | CA370636065 | NAT2 | c.521A>G (p.Glu174Gly) c.131A>G (p.Glu44Gly) | |
| 8 | g.18400524A>T | CA370636066 | NAT2 | c.521A>T (p.Glu174Val) c.131A>T (p.Glu44Val) | |
| 8 | g.18400525A= | CA1768219026 | NAT2 | c.522A= (p.Glu174=) c.132A= (p.Glu44=) | |
| 8 | g.18400525A>C | CA370636067 | NAT2 | c.522A>C (p.Glu174Asp) c.132A>C (p.Glu44Asp) | |
| 8 | g.18400525A>G | CA459881162 | NAT2 | c.522A>G (p.Glu174=) c.132A>G (p.Glu44=) | |
| 8 | g.18400525A>T | CA370636068 | NAT2 | c.522A>T (p.Glu174Asp) c.132A>T (p.Glu44Asp) | dbSNP |
| 8 | g.18400526T>A | CA370636069 | NAT2 | c.523T>A (p.Phe175Ile) c.133T>A (p.Phe45Ile) | COSMIC |
| 8 | g.18400526T>C | CA370636070 | NAT2 | c.523T>C (p.Phe175Leu) c.133T>C (p.Phe45Leu) | gnomAD v4 |
| 8 | g.18400526T>G | CA370636071 | NAT2 | c.523T>G (p.Phe175Val) c.133T>G (p.Phe45Val) | |
| 8 | g.18400527T>A | CA370636072 | NAT2 | c.524T>A (p.Phe175Tyr) c.134T>A (p.Phe45Tyr) | |
| 8 | g.18400527T>C | CA370636073 | NAT2 | c.524T>C (p.Phe175Ser) c.134T>C (p.Phe45Ser) | |
| 8 | g.18400527T>G | CA370636074 | NAT2 | c.524T>G (p.Phe175Cys) c.134T>G (p.Phe45Cys) | |
| 8 | g.18400528T>A | CA370636075 | NAT2 | c.525T>A (p.Phe175Leu) c.135T>A (p.Phe45Leu) | |
| 8 | g.18400528T>C | CA459881163 | NAT2 | c.525T>C (p.Phe175=) c.135T>C (p.Phe45=) | gnomAD v4 |
| 8 | g.18400528T>G | CA370636076 | NAT2 | c.525T>G (p.Phe175Leu) c.135T>G (p.Phe45Leu) | |
| 8 | g.18400529C>A | CA370636077 | NAT2 | c.526C>A (p.Leu176Ile) c.136C>A (p.Leu46Ile) | |
| 8 | g.18400529C>G | CA370636079 | NAT2 | c.526C>G (p.Leu176Val) c.136C>G (p.Leu46Val) | |
| 8 | g.18400529C>T | CA370636078 | NAT2 | c.526C>T (p.Leu176Phe) c.136C>T (p.Leu46Phe) | |
| 8 | g.18400530T>A | CA370636080 | NAT2 | c.527T>A (p.Leu176His) c.137T>A (p.Leu46His) | |
| 8 | g.18400530T>C | CA370636081 | NAT2 | c.527T>C (p.Leu176Pro) c.137T>C (p.Leu46Pro) | |
| 8 | g.18400530T>G | CA370636082 | NAT2 | c.527T>G (p.Leu176Arg) c.137T>G (p.Leu46Arg) | |
| 8 | g.18400531T>A | CA459881164 | NAT2 | c.528T>A (p.Leu176=) c.138T>A (p.Leu46=) | |
| 8 | g.18400531T>C | CA459881165 | NAT2 | c.528T>C (p.Leu176=) c.138T>C (p.Leu46=) | |
| 8 | g.18400531T>G | CA459881166 | NAT2 | c.528T>G (p.Leu176=) c.138T>G (p.Leu46=) | gnomAD v4 |
| 8 | g.18400532A>C | CA370636083 | NAT2 | c.529A>C (p.Asn177His) c.139A>C (p.Asn47His) | |
| 8 | g.18400532A>G | CA370636084 | NAT2 | c.529A>G (p.Asn177Asp) c.139A>G (p.Asn47Asp) | gnomAD v4 |
| 8 | g.18400532A>T | CA370636085 | NAT2 | c.529A>T (p.Asn177Tyr) c.139A>T (p.Asn47Tyr) | |
| 8 | g.18400533A>C | CA370636086 | NAT2 | c.530A>C (p.Asn177Thr) c.140A>C (p.Asn47Thr) | |
| 8 | g.18400533A>G | CA370636087 | NAT2 | c.530A>G (p.Asn177Ser) c.140A>G (p.Asn47Ser) | |
| 8 | g.18400533A>T | CA370636088 | NAT2 | c.530A>T (p.Asn177Ile) c.140A>T (p.Asn47Ile) | gnomAD v4 |
| 8 | g.18400534T>A | CA370636089 | NAT2 | c.531T>A (p.Asn177Lys) c.141T>A (p.Asn47Lys) | |
| 8 | g.18400534T>C | CA459881167 | NAT2 | c.531T>C (p.Asn177=) c.141T>C (p.Asn47=) | |
| 8 | g.18400534T>G | CA4651637 | NAT2 | c.531T>G (p.Asn177Lys) c.141T>G (p.Asn47Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400534T= | CA1768219027 | NAT2 | c.531T= (p.Asn177=) c.141T= (p.Asn47=) | |
| 8 | g.18400535T>A | CA370636092 | NAT2 | c.532T>A (p.Ser178Thr) c.142T>A (p.Ser48Thr) | gnomAD v4 |
| 8 | g.18400535T>C | CA370636091 | NAT2 | c.532T>C (p.Ser178Pro) c.142T>C (p.Ser48Pro) | |
| 8 | g.18400535T>G | CA370636090 | NAT2 | c.532T>G (p.Ser178Ala) c.142T>G (p.Ser48Ala) | |
| 8 | g.18400536C>A | CA173519929 | NAT2 | c.533C>A (p.Ser178Tyr) c.143C>A (p.Ser48Tyr) | dbSNP gnomAD v4 |
| 8 | g.18400536C= | CA1768219028 | NAT2 | c.533C= (p.Ser178=) c.143C= (p.Ser48=) | |
| 8 | g.18400536C>G | CA370636093 | NAT2 | c.533C>G (p.Ser178Cys) c.143C>G (p.Ser48Cys) | |
| 8 | g.18400536C>T | CA370636094 | NAT2 | c.533C>T (p.Ser178Phe) c.143C>T (p.Ser48Phe) | |
| 8 | g.18400537T>A | CA459881168 | NAT2 | c.534T>A (p.Ser178=) c.144T>A (p.Ser48=) | |
| 8 | g.18400537T>C | CA459881169 | NAT2 | c.534T>C (p.Ser178=) c.144T>C (p.Ser48=) | |
| 8 | g.18400537T>G | CA459881170 | NAT2 | c.534T>G (p.Ser178=) c.144T>G (p.Ser48=) | |
| 8 | g.18400538C>A | CA370636095 | NAT2 | c.535C>A (p.His179Asn) c.145C>A (p.His49Asn) | |
| 8 | g.18400538C>G | CA370636096 | NAT2 | c.535C>G (p.His179Asp) c.145C>G (p.His49Asp) | |
| 8 | g.18400538C>T | CA370636097 | NAT2 | c.535C>T (p.His179Tyr) c.145C>T (p.His49Tyr) | |
| 8 | g.18400539A= | CA1768219029 | NAT2 | c.536A= (p.His179=) c.146A= (p.His49=) | |
| 8 | g.18400539A>C | CA370636098 | NAT2 | c.536A>C (p.His179Pro) c.146A>C (p.His49Pro) | |
| 8 | g.18400539A>G | CA173519930 | NAT2 | c.536A>G (p.His179Arg) c.146A>G (p.His49Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400539A>T | CA370636099 | NAT2 | c.536A>T (p.His179Leu) c.146A>T (p.His49Leu) | |
| 8 | g.18400540T>A | CA370636100 | NAT2 | c.537T>A (p.His179Gln) c.147T>A (p.His49Gln) | |
| 8 | g.18400540T>C | CA459881171 | NAT2 | c.537T>C (p.His179=) c.147T>C (p.His49=) | |
| 8 | g.18400540T>G | CA370636101 | NAT2 | c.537T>G (p.His179Gln) c.147T>G (p.His49Gln) | |
| 8 | g.18400540_18400543delinsTCTC | CA1768219030 | NAT2 | c.537_540delinsTCTC (p.His179=) c.147_150delinsTCTC (p.His49=) | |
| 8 | g.18400541C>A | CA370636102 | NAT2 | c.538C>A (p.Leu180Ile) c.148C>A (p.Leu50Ile) | |
| 8 | g.18400541C= | CA1768219032 | NAT2 | c.538C= (p.Leu180=) c.148C= (p.Leu50=) | |
| 8 | g.18400541C>G | CA370636103 | NAT2 | c.538C>G (p.Leu180Val) c.148C>G (p.Leu50Val) | |
| 8 | g.18400541C>T | CA4651638 | NAT2 | c.538C>T (p.Leu180Phe) c.148C>T (p.Leu50Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400543_18400545del | CA1768219031 | NAT2 | c.540_542del (p.Leu181del) c.150_152del (p.Leu51del) | dbSNP gnomAD v4 |
| 8 | g.18400542T>A | CA370636105 | NAT2 | c.539T>A (p.Leu180His) c.149T>A (p.Leu50His) | |
| 8 | g.18400542T>C | CA370636106 | NAT2 | c.539T>C (p.Leu180Pro) c.149T>C (p.Leu50Pro) | |
| 8 | g.18400542T>G | CA370636104 | NAT2 | c.539T>G (p.Leu180Arg) c.149T>G (p.Leu50Arg) | |
| 8 | g.18400543C>A | CA459881172 | NAT2 | c.540C>A (p.Leu180=) c.150C>A (p.Leu50=) | COSMIC |
| 8 | g.18400543C>G | CA459881173 | NAT2 | c.540C>G (p.Leu180=) c.150C>G (p.Leu50=) | |
| 8 | g.18400543C>T | CA459881174 | NAT2 | c.540C>T (p.Leu180=) c.150C>T (p.Leu50=) | |
| 8 | g.18400544C>A | CA370636107 | NAT2 | c.541C>A (p.Leu181Met) c.151C>A (p.Leu51Met) | |
| 8 | g.18400544C>G | CA370636108 | NAT2 | c.541C>G (p.Leu181Val) c.151C>G (p.Leu51Val) | |
| 8 | g.18400544C>T | CA459881175 | NAT2 | c.541C>T (p.Leu181=) c.151C>T (p.Leu51=) | gnomAD v4 |
| 8 | g.18400545T>A | CA370636109 | NAT2 | c.542T>A (p.Leu181Gln) c.152T>A (p.Leu51Gln) | |
| 8 | g.18400545T>C | CA370636110 | NAT2 | c.542T>C (p.Leu181Pro) c.152T>C (p.Leu51Pro) | |
| 8 | g.18400545T>G | CA370636111 | NAT2 | c.542T>G (p.Leu181Arg) c.152T>G (p.Leu51Arg) | |
| 8 | g.18400546G>A | CA459881176 | NAT2 | c.543G>A (p.Leu181=) c.153G>A (p.Leu51=) | |
| 8 | g.18400546G>C | CA459881177 | NAT2 | c.543G>C (p.Leu181=) c.153G>C (p.Leu51=) | |
| 8 | g.18400546G>T | CA459881178 | NAT2 | c.543G>T (p.Leu181=) c.153G>T (p.Leu51=) | |
| 8 | g.18400547C>A | CA370636114 | NAT2 | c.544C>A (p.Pro182Thr) c.154C>A (p.Pro52Thr) | gnomAD v4 |
| 8 | g.18400547C>G | CA370636112 | NAT2 | c.544C>G (p.Pro182Ala) c.154C>G (p.Pro52Ala) | |
| 8 | g.18400547C>T | CA370636113 | NAT2 | c.544C>T (p.Pro182Ser) c.154C>T (p.Pro52Ser) | |
| 8 | g.18400548C>A | CA370636115 | NAT2 | c.545C>A (p.Pro182Gln) c.155C>A (p.Pro52Gln) | gnomAD v4 |
| 8 | g.18400548C>G | CA370636116 | NAT2 | c.545C>G (p.Pro182Arg) c.155C>G (p.Pro52Arg) | |
| 8 | g.18400548C>T | CA370636117 | NAT2 | c.545C>T (p.Pro182Leu) c.155C>T (p.Pro52Leu) | |
| 8 | g.18400549A>C | CA459881184 | NAT2 | c.546A>C (p.Pro182=) c.156A>C (p.Pro52=) | gnomAD v4 |
| 8 | g.18400549A>G | CA459881182 | NAT2 | c.546A>G (p.Pro182=) c.156A>G (p.Pro52=) | dbSNP |
| 8 | g.18400549A>T | CA459881180 | NAT2 | c.546A>T (p.Pro182=) c.156A>T (p.Pro52=) | |
| 8 | g.18400549_18400552delinsAAAG | CA1768219033 | NAT2 | c.546_549delinsAAAG (p.Pro182=) c.156_159delinsAAAG (p.Pro52=) | |
| 8 | g.18400550A= | CA1768219034 | NAT2 | c.547A= (p.Lys183=) c.157A= (p.Lys53=) | |
| 8 | g.18400550A>C | CA370636118 | NAT2 | c.547A>C (p.Lys183Gln) c.157A>C (p.Lys53Gln) | |
| 8 | g.18400550A>G | CA370636119 | NAT2 | c.547A>G (p.Lys183Glu) c.157A>G (p.Lys53Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400550A>T | CA370636120 | NAT2 | c.547A>T (p.Lys183Ter) c.157A>T (p.Lys53Ter) | |
| 8 | g.18400555_18400557del | CA1768219035 | NAT2 | c.552_554del (p.Lys185del) c.162_164del (p.Lys55del) | dbSNP |
| 8 | g.18400551A= | CA1768219036 | NAT2 | c.548A= (p.Lys183=) c.158A= (p.Lys53=) | |
| 8 | g.18400551A>C | CA370636122 | NAT2 | c.548A>C (p.Lys183Thr) c.158A>C (p.Lys53Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400551A>G | CA370636123 | NAT2 | c.548A>G (p.Lys183Arg) c.158A>G (p.Lys53Arg) | gnomAD v4 |
| 8 | g.18400551A>T | CA370636121 | NAT2 | c.548A>T (p.Lys183Met) c.158A>T (p.Lys53Met) | |
| 8 | g.18400552G>A | CA459881185 | NAT2 | c.549G>A (p.Lys183=) c.159G>A (p.Lys53=) | |
| 8 | g.18400552G>C | CA370636124 | NAT2 | c.549G>C (p.Lys183Asn) c.159G>C (p.Lys53Asn) | |
| 8 | g.18400552G>T | CA370636125 | NAT2 | c.549G>T (p.Lys183Asn) c.159G>T (p.Lys53Asn) | |
| 8 | g.18400553A>C | CA370636126 | NAT2 | c.550A>C (p.Lys184Gln) c.160A>C (p.Lys54Gln) | |
| 8 | g.18400553A>G | CA370636127 | NAT2 | c.550A>G (p.Lys184Glu) c.160A>G (p.Lys54Glu) | |
| 8 | g.18400553A>T | CA370636128 | NAT2 | c.550A>T (p.Lys184Ter) c.160A>T (p.Lys54Ter) | |
| 8 | g.18400554A>C | CA370636129 | NAT2 | c.551A>C (p.Lys184Thr) c.161A>C (p.Lys54Thr) | COSMIC |
| 8 | g.18400554A>G | CA370636130 | NAT2 | c.551A>G (p.Lys184Arg) c.161A>G (p.Lys54Arg) | gnomAD v4 |
| 8 | g.18400554A>T | CA370636131 | NAT2 | c.551A>T (p.Lys184Met) c.161A>T (p.Lys54Met) | |
| 8 | g.18400555G>A | CA459881188 | NAT2 | c.552G>A (p.Lys184=) c.162G>A (p.Lys54=) | |
| 8 | g.18400555G>C | CA370636132 | NAT2 | c.552G>C (p.Lys184Asn) c.162G>C (p.Lys54Asn) | |
| 8 | g.18400555G>T | CA370636133 | NAT2 | c.552G>T (p.Lys184Asn) c.162G>T (p.Lys54Asn) | |
| 8 | g.18400556A>C | CA370636134 | NAT2 | c.553A>C (p.Lys185Gln) c.163A>C (p.Lys55Gln) | |
| 8 | g.18400556A>G | CA370636135 | NAT2 | c.553A>G (p.Lys185Glu) c.163A>G (p.Lys55Glu) | |
| 8 | g.18400556A>T | CA370636136 | NAT2 | c.553A>T (p.Lys185Ter) c.163A>T (p.Lys55Ter) | |
| 8 | g.18400557A>C | CA370636139 | NAT2 | c.554A>C (p.Lys185Thr) c.164A>C (p.Lys55Thr) | |
| 8 | g.18400557A>G | CA370636138 | NAT2 | c.554A>G (p.Lys185Arg) c.164A>G (p.Lys55Arg) | gnomAD v4 |
| 8 | g.18400557A>T | CA370636137 | NAT2 | c.554A>T (p.Lys185Ile) c.164A>T (p.Lys55Ile) | |
| 8 | g.18400558A>C | CA370636140 | NAT2 | c.555A>C (p.Lys185Asn) c.165A>C (p.Lys55Asn) | |
| 8 | g.18400558A>G | CA459881193 | NAT2 | c.555A>G (p.Lys185=) c.165A>G (p.Lys55=) | |
| 8 | g.18400558A>T | CA370636141 | NAT2 | c.555A>T (p.Lys185Asn) c.165A>T (p.Lys55Asn) | |
| 8 | g.18400559C>A | CA370636142 | NAT2 | c.556C>A (p.His186Asn) c.166C>A (p.His56Asn) | gnomAD v4 |
| 8 | g.18400559C= | CA1768219037 | NAT2 | c.556C= (p.His186=) c.166C= (p.His56=) | |
| 8 | g.18400559C>G | CA370636143 | NAT2 | c.556C>G (p.His186Asp) c.166C>G (p.His56Asp) | |
| 8 | g.18400559C>T | CA370636144 | NAT2 | c.556C>T (p.His186Tyr) c.166C>T (p.His56Tyr) | dbSNP gnomAD v4 |
| 8 | g.18400560A>C | CA370636145 | NAT2 | c.557A>C (p.His186Pro) c.167A>C (p.His56Pro) | |
| 8 | g.18400560A>G | CA370636146 | NAT2 | c.557A>G (p.His186Arg) c.167A>G (p.His56Arg) | |
| 8 | g.18400560A>T | CA370636147 | NAT2 | c.557A>T (p.His186Leu) c.167A>T (p.His56Leu) | |
| 8 | g.18400560_18400561delinsAC | CA1768219038 | NAT2 | c.557_558delinsAC (p.His186=) c.167_168delinsAC (p.His56=) | |
| 8 | g.18400561C>A | CA370636148 | NAT2 | c.558C>A (p.His186Gln) c.168C>A (p.His56Gln) | gnomAD v3 gnomAD v4 |
| 8 | g.18400561C>G | CA370636149 | NAT2 | c.558C>G (p.His186Gln) c.168C>G (p.His56Gln) | |
| 8 | g.18400561C>T | CA459881198 | NAT2 | c.558C>T (p.His186=) c.168C>T (p.His56=) | gnomAD v4 |
| 8 | g.18400562del | CA580502444 | NAT2 | c.559del (p.Gln187LysfsTer19) c.169del (p.Gln57LysfsTer19) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400562C>A | CA370636150 | NAT2 | c.559C>A (p.Gln187Lys) c.169C>A (p.Gln57Lys) | gnomAD v4 |
| 8 | g.18400562C= | CA1768219039 | NAT2 | c.559C= (p.Gln187=) c.169C= (p.Gln57=) | |
| 8 | g.18400562C>G | CA4651639 | NAT2 | c.559C>G (p.Gln187Glu) c.169C>G (p.Gln57Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400562C>T | CA370636151 | NAT2 | c.559C>T (p.Gln187Ter) c.169C>T (p.Gln57Ter) | |
| 8 | g.18400563A>C | CA370636153 | NAT2 | c.560A>C (p.Gln187Pro) c.170A>C (p.Gln57Pro) | |
| 8 | g.18400563A>G | CA370636154 | NAT2 | c.560A>G (p.Gln187Arg) c.170A>G (p.Gln57Arg) | |
| 8 | g.18400563A>T | CA370636152 | NAT2 | c.560A>T (p.Gln187Leu) c.170A>T (p.Gln57Leu) | |
| 8 | g.18400568dup | CA2579103947 | NAT2 | c.565dup (p.Ile189AsnfsTer7) c.175dup (p.Ile59AsnfsTer7) | |
| 8 | g.18400568del | CA580502445 | NAT2 | c.565del (p.Ile189TyrfsTer17) c.175del (p.Ile59TyrfsTer17) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400564A>C | CA370636155 | NAT2 | c.561A>C (p.Gln187His) c.171A>C (p.Gln57His) | |
| 8 | g.18400564A>G | CA459881201 | NAT2 | c.561A>G (p.Gln187=) c.171A>G (p.Gln57=) | |
| 8 | g.18400564A>T | CA370636156 | NAT2 | c.561A>T (p.Gln187His) c.171A>T (p.Gln57His) | |
| 8 | g.18400565A>C | CA370636157 | NAT2 | c.562A>C (p.Lys188Gln) c.172A>C (p.Lys58Gln) | |
| 8 | g.18400565A>G | CA370636158 | NAT2 | c.562A>G (p.Lys188Glu) c.172A>G (p.Lys58Glu) | |
| 8 | g.18400565A>T | CA370636159 | NAT2 | c.562A>T (p.Lys188Ter) c.172A>T (p.Lys58Ter) | |
| 8 | g.18400565_18400566insCACACCCAACAC | CA2779261271 | NAT2 | c.562_563insCACACCCAACAC (p.Lys188delinsThrHisProThrGln) c.172_173insCACACCCAACAC (p.Lys58delinsThrHisProThrGln) | |
| 8 | g.18400566A>C | CA370636160 | NAT2 | c.563A>C (p.Lys188Thr) c.173A>C (p.Lys58Thr) | |
| 8 | g.18400566A>G | CA370636161 | NAT2 | c.563A>G (p.Lys188Arg) c.173A>G (p.Lys58Arg) | |
| 8 | g.18400566A>T | CA370636162 | NAT2 | c.563A>T (p.Lys188Ile) c.173A>T (p.Lys58Ile) | |
| 8 | g.18400567A>C | CA370636163 | NAT2 | c.564A>C (p.Lys188Asn) c.174A>C (p.Lys58Asn) | |
| 8 | g.18400567A>G | CA459881205 | NAT2 | c.564A>G (p.Lys188=) c.174A>G (p.Lys58=) | gnomAD v4 |
| 8 | g.18400567A>T | CA370636164 | NAT2 | c.564A>T (p.Lys188Asn) c.174A>T (p.Lys58Asn) | |
| 8 | g.18400568A= | CA1768219041 | NAT2 | c.565A= (p.Ile189=) c.175A= (p.Ile59=) | |
| 8 | g.18400568A>C | CA370636165 | NAT2 | c.565A>C (p.Ile189Leu) c.175A>C (p.Ile59Leu) | dbSNP |
| 8 | g.18400568A>G | CA370636166 | NAT2 | c.565A>G (p.Ile189Val) c.175A>G (p.Ile59Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400568A>T | CA370636167 | NAT2 | c.565A>T (p.Ile189Leu) c.175A>T (p.Ile59Leu) | gnomAD v4 |
| 8 | g.18400568_18400574delinsATATACT | CA1768219040 | NAT2 | c.565_571delinsATATACT (p.Ile189=) c.175_181delinsATATACT (p.Ile59=) | |
| 8 | g.18400569del | CA2779261274 | NAT2 | c.566del (p.Ile189AsnfsTer17) c.176del (p.Ile59AsnfsTer17) | |
| 8 | g.18400569T>A | CA370636169 | NAT2 | c.566T>A (p.Ile189Lys) c.176T>A (p.Ile59Lys) | |
| 8 | g.18400569T>C | CA4651641 | NAT2 | c.566T>C (p.Ile189Thr) c.176T>C (p.Ile59Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400569T>G | CA370636168 | NAT2 | c.566T>G (p.Ile189Arg) c.176T>G (p.Ile59Arg) | |
| 8 | g.18400569T= | CA1768219042 | NAT2 | c.566T= (p.Ile189=) c.176T= (p.Ile59=) | |
| 8 | g.18400572_18400577del | CA4651640 | NAT2 | c.569_574del (p.Tyr190_Leu191del) c.179_184del (p.Tyr60_Leu61del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400570A= | CA1768219043 | NAT2 | c.567A= (p.Ile189=) c.177A= (p.Ile59=) | |
| 8 | g.18400570A>C | CA459881210 | NAT2 | c.567A>C (p.Ile189=) c.177A>C (p.Ile59=) | |
| 8 | g.18400570A>G | CA4651642 | NAT2 | c.567A>G (p.Ile189Met) c.177A>G (p.Ile59Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400570A>T | CA459881209 | NAT2 | c.567A>T (p.Ile189=) c.177A>T (p.Ile59=) | |
| 8 | g.18400571T>A | CA370636170 | NAT2 | c.568T>A (p.Tyr190Asn) c.178T>A (p.Tyr60Asn) | |
| 8 | g.18400571T>C | CA370636171 | NAT2 | c.568T>C (p.Tyr190His) c.178T>C (p.Tyr60His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400571T>G | CA370636172 | NAT2 | c.568T>G (p.Tyr190Asp) c.178T>G (p.Tyr60Asp) | |
| 8 | g.18400571T= | CA1768219044 | NAT2 | c.568T= (p.Tyr190=) c.178T= (p.Tyr60=) | |
| 8 | g.18400572A= | CA1768219045 | NAT2 | c.569A= (p.Tyr190=) c.179A= (p.Tyr60=) | |
| 8 | g.18400572A>C | CA370636173 | NAT2 | c.569A>C (p.Tyr190Ser) c.179A>C (p.Tyr60Ser) | |
| 8 | g.18400572A>G | CA4651643 | NAT2 | c.569A>G (p.Tyr190Cys) c.179A>G (p.Tyr60Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400572A>T | CA370636174 | NAT2 | c.569A>T (p.Tyr190Phe) c.179A>T (p.Tyr60Phe) | |
| 8 | g.18400573C>A | CA370636175 | NAT2 | c.570C>A (p.Tyr190Ter) c.180C>A (p.Tyr60Ter) | |
| 8 | g.18400573C= | CA1768219046 | NAT2 | c.570C= (p.Tyr190=) c.180C= (p.Tyr60=) | |
| 8 | g.18400573C>G | CA370636176 | NAT2 | c.570C>G (p.Tyr190Ter) c.180C>G (p.Tyr60Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400573C>T | CA4651644 | NAT2 | c.570C>T (p.Tyr190=) c.180C>T (p.Tyr60=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400574T>A | CA370636177 | NAT2 | c.571T>A (p.Leu191Ile) c.181T>A (p.Leu61Ile) | |
| 8 | g.18400574T>C | CA459881265 | NAT2 | c.571T>C (p.Leu191=) c.181T>C (p.Leu61=) | gnomAD v4 |
| 8 | g.18400574T>G | CA370636178 | NAT2 | c.571T>G (p.Leu191Val) c.181T>G (p.Leu61Val) | |
| 8 | g.18400575T>A | CA370636179 | NAT2 | c.572T>A (p.Leu191Ter) c.182T>A (p.Leu61Ter) | |
| 8 | g.18400575T>C | CA370636181 | NAT2 | c.572T>C (p.Leu191Ser) c.182T>C (p.Leu61Ser) | |
| 8 | g.18400575T>G | CA370636180 | NAT2 | c.572T>G (p.Leu191Ter) c.182T>G (p.Leu61Ter) | |
| 8 | g.18400576A>C | CA370636182 | NAT2 | c.573A>C (p.Leu191Phe) c.183A>C (p.Leu61Phe) | dbSNP gnomAD v4 |
| 8 | g.18400576A>G | CA459881266 | NAT2 | c.573A>G (p.Leu191=) c.183A>G (p.Leu61=) | |
| 8 | g.18400576A>T | CA370636183 | NAT2 | c.573A>T (p.Leu191Phe) c.183A>T (p.Leu61Phe) | |
| 8 | g.18400577T>A | CA370636184 | NAT2 | c.574T>A (p.Phe192Ile) c.184T>A (p.Phe62Ile) | |
| 8 | g.18400577T>C | CA370636185 | NAT2 | c.574T>C (p.Phe192Leu) c.184T>C (p.Phe62Leu) | |
| 8 | g.18400577T>G | CA370636186 | NAT2 | c.574T>G (p.Phe192Val) c.184T>G (p.Phe62Val) | |
| 8 | g.18400578T>A | CA370636187 | NAT2 | c.575T>A (p.Phe192Tyr) c.185T>A (p.Phe62Tyr) | |
| 8 | g.18400578T>C | CA370636188 | NAT2 | c.575T>C (p.Phe192Ser) c.185T>C (p.Phe62Ser) | |
| 8 | g.18400578T>G | CA370636189 | NAT2 | c.575T>G (p.Phe192Cys) c.185T>G (p.Phe62Cys) | gnomAD v4 |
| 8 | g.18400579T>A | CA370636190 | NAT2 | c.576T>A (p.Phe192Leu) c.186T>A (p.Phe62Leu) | |
| 8 | g.18400579T>C | CA459881267 | NAT2 | c.576T>C (p.Phe192=) c.186T>C (p.Phe62=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400579T>G | CA370636191 | NAT2 | c.576T>G (p.Phe192Leu) c.186T>G (p.Phe62Leu) | |
| 8 | g.18400579T= | CA1768219047 | NAT2 | c.576T= (p.Phe192=) c.186T= (p.Phe62=) | |
| 8 | g.18400580A>C | CA370636192 | NAT2 | c.577A>C (p.Thr193Pro) c.187A>C (p.Thr63Pro) | |
| 8 | g.18400580A>G | CA370636193 | NAT2 | c.577A>G (p.Thr193Ala) c.187A>G (p.Thr63Ala) | |
| 8 | g.18400580A>T | CA370636194 | NAT2 | c.577A>T (p.Thr193Ser) c.187A>T (p.Thr63Ser) | |
| 8 | g.18400581C>A | CA370636195 | NAT2 | c.578C>A (p.Thr193Lys) c.188C>A (p.Thr63Lys) | |
| 8 | g.18400581C= | CA1768219048 | NAT2 | c.578C= (p.Thr193=) c.188C= (p.Thr63=) | |
| 8 | g.18400581C>G | CA370636196 | NAT2 | c.578C>G (p.Thr193Arg) c.188C>G (p.Thr63Arg) | gnomAD v4 |
| 8 | g.18400581C>T | CA4651645 | NAT2 | c.578C>T (p.Thr193Met) c.188C>T (p.Thr63Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.18400582G>A | CA4651647 | NAT2 | c.579G>A (p.Thr193=) c.189G>A (p.Thr63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400582G>C | CA459881268 | NAT2 | c.579G>C (p.Thr193=) c.189G>C (p.Thr63=) | |
| 8 | g.18400582G= | CA1768219049 | NAT2 | c.579G= (p.Thr193=) c.189G= (p.Thr63=) | |
| 8 | g.18400582G>T | CA4651646 | NAT2 | c.579G>T (p.Thr193=) c.189G>T (p.Thr63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |