2 | g.73640933_73640936del | CA2659622938 | NAT8 | c.*12_*15del (n.*12_*15del)
| gnomAD v4 |
2 | g.73640932A>G | CA2659622939 | NAT8 | c.*13T>C (n.*13T>C)
| gnomAD v4 |
2 | g.73640933C= | CA1261057065 | NAT8 | c.*12G= (n.*12G=)
| |
2 | g.73640933C>G | CA1715618 | NAT8 | c.*12G>C (n.*12G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640933C>T | CA1261057066 | NAT8 | c.*12G>A (n.*12G>A)
| dbSNP |
2 | g.73640934A>G | CA2659622940 | NAT8 | c.*11T>C (n.*11T>C)
| gnomAD v4 |
2 | g.73640935C>A | CA1715620 | NAT8 | c.*10G>T (n.*10G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640935C= | CA1261057067 | NAT8 | c.*10G= (n.*10G=)
| |
2 | g.73640935C>G | CA1715619 | NAT8 | c.*10G>C (n.*10G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640936A= | CA1261057068 | NAT8 | c.*9T= (n.*9T=)
| |
2 | g.73640936A>C | CA2659622942 | NAT8 | c.*9T>G (n.*9T>G)
| gnomAD v4 |
2 | g.73640936A>G | CA1715621 | NAT8 | c.*9T>C (n.*9T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640936A>T | CA534125743 | NAT8 | c.*9T>A (n.*9T>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73640937_73640938del | CA2659622941 | NAT8 | c.*8_*9del (n.*8_*9del)
| gnomAD v4 |
2 | g.73640937G>A | CA1261057069 | NAT8 | c.*8C>T (n.*8C>T)
| dbSNP |
2 | g.73640937G= | CA1261057070 | NAT8 | c.*8C= (n.*8C=)
| |
2 | g.73640939_73640941delinsAAG | CA1261057071 | NAT8 | c.*4_*6delinsCTT (n.*4_*6delinsCTT)
| |
2 | g.73640940A= | CA1261057072 | NAT8 | c.*5T= (n.*5T=)
| |
2 | g.73640940A>G | CA534125744 | NAT8 | c.*5T>C (n.*5T>C)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73640943_73640944del | CA1715622 | NAT8 | c.*4_*5del (n.*4_*5del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640941G>A | CA2577005382 | NAT8 | c.*4C>T (n.*4C>T)
| gnomAD v4 |
2 | g.73640941G= | CA1261057073 | NAT8 | c.*4C= (n.*4C=)
| |
2 | g.73640941G>T | CA892866964 | NAT8 | c.*4C>A (n.*4C>A)
| dbSNP |
2 | g.73640942A= | CA1261057074 | NAT8 | c.*3T= (n.*3T=)
| |
2 | g.73640942A>T | CA50370820 | NAT8 | c.*3T>A (n.*3T>A)
| dbSNP |
2 | g.73640943G>A | CA1715624 | NAT8 | c.*2C>T (n.*2C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640943G= | CA1261057075 | NAT8 | c.*2C= (n.*2C=)
| |
2 | g.73640943G>T | CA1715623 | NAT8 | c.*2C>A (n.*2C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640944A= | CA1261057076 | NAT8 | c.*1T= (n.*1T=)
| |
2 | g.73640944A>C | CA1715625 | NAT8 | c.*1T>G (n.*1T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640945T>A | CA347285955 | NAT8 | c.684A>T (p.Ter228Cys)
| |
2 | g.73640945T>C | CA347285956 | NAT8 | c.684A>G (p.Ter228Trp)
| gnomAD v4 |
2 | g.73640945T>G | CA347285958 | NAT8 | c.684A>C (p.Ter228Cys)
| |
2 | g.73640945dup | CA534125745 | NAT8 | c.684dup (n.684dup)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73640946C>A | CA347285961 | NAT8 | c.683G>T (p.Ter228Leu)
| gnomAD v4 |
2 | g.73640946C= | CA1261057077 | NAT8 | c.683G= (p.Ter228=)
| |
2 | g.73640946C>G | CA347285962 | NAT8 | c.683G>C (p.Ter228Ser)
| |
2 | g.73640946C>T | CA1715626 | NAT8 | c.683G>A (p.Ter228=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640948_73640949del | CA2577005383 | NAT8 | c.682_683del (p.Ter228IleextTer10)
| gnomAD v4 |
2 | g.73640947A= | CA1261057078 | NAT8 | c.682T= (p.Ter228=)
| |
2 | g.73640947A>C | CA347285965 | NAT8 | c.682T>G (p.Ter228Gly)
| |
2 | g.73640947A>G | CA1715627 | NAT8 | c.682T>C (p.Ter228Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640947A>T | CA347285967 | NAT8 | c.682T>A (p.Ter228Arg)
| |
2 | g.73640948C>A | CA427024242 | NAT8 | c.681G>T (p.Leu227=)
| |
2 | g.73640948C= | CA1261057079 | NAT8 | c.681G= (p.Leu227=)
| |
2 | g.73640948C>G | CA1715629 | NAT8 | c.681G>C (p.Leu227=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640948C>T | CA1715628 | NAT8 | c.681G>A (p.Leu227=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640949A= | CA1261057080 | NAT8 | c.680T= (p.Leu227=)
| |
2 | g.73640949A>C | CA347285972 | NAT8 | c.680T>G (p.Leu227Arg)
| |
2 | g.73640949A>G | CA347285973 | NAT8 | c.680T>C (p.Leu227Pro)
| |
2 | g.73640949A>T | CA50370850 | NAT8 | c.680T>A (p.Leu227Gln)
| dbSNP |
2 | g.73640950G>A | CA427024244 | NAT8 | c.679C>T (p.Leu227=)
| |
2 | g.73640950G>C | CA347285975 | NAT8 | c.679C>G (p.Leu227Val)
| |
2 | g.73640950G>T | CA347285977 | NAT8 | c.679C>A (p.Leu227Met)
| |
2 | g.73640951A= | CA1261057081 | NAT8 | c.678T= (p.Ser226=)
| |
2 | g.73640951A>C | CA347285979 | NAT8 | c.678T>G (p.Ser226Arg)
| dbSNP |
2 | g.73640951A>G | CA427024245 | NAT8 | c.678T>C (p.Ser226=)
| |
2 | g.73640951A>T | CA347285981 | NAT8 | c.678T>A (p.Ser226Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73640952C>A | CA347285984 | NAT8 | c.677G>T (p.Ser226Ile)
| |
2 | g.73640952C= | CA1261057082 | NAT8 | c.677G= (p.Ser226=)
| |
2 | g.73640952C>G | CA1715630 | NAT8 | c.677G>C (p.Ser226Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640952C>T | CA347285986 | NAT8 | c.677G>A (p.Ser226Asn)
| |
2 | g.73640953T>A | CA347285992 | NAT8 | c.676A>T (p.Ser226Cys)
| |
2 | g.73640953T>C | CA347285988 | NAT8 | c.676A>G (p.Ser226Gly)
| |
2 | g.73640953T>G | CA1715631 | NAT8 | c.676A>C (p.Ser226Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640953T= | CA1261057083 | NAT8 | c.676A= (p.Ser226=)
| |
2 | g.73640954C>A | CA427024247 | NAT8 | c.675G>T (p.Gly225=)
| |
2 | g.73640954C>G | CA427024248 | NAT8 | c.675G>C (p.Gly225=)
| |
2 | g.73640954C>T | CA427024249 | NAT8 | c.675G>A (p.Gly225=)
| |
2 | g.73640955C>A | CA347285994 | NAT8 | c.674G>T (p.Gly225Val)
| |
2 | g.73640955C= | CA1261057084 | NAT8 | c.674G= (p.Gly225=)
| |
2 | g.73640955C>G | CA347285995 | NAT8 | c.674G>C (p.Gly225Ala)
| |
2 | g.73640955C>T | CA347285998 | NAT8 | c.674G>A (p.Gly225Glu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73640956C>A | CA347286000 | NAT8 | c.673G>T (p.Gly225Trp)
| |
2 | g.73640956C>G | CA347286002 | NAT8 | c.673G>C (p.Gly225Arg)
| gnomAD v4 |
2 | g.73640956C>T | CA347286004 | NAT8 | c.673G>A (p.Gly225Arg)
| |
2 | g.73640957T>A | CA427024252 | NAT8 | c.672A>T (p.Val224=)
| gnomAD v4 |
2 | g.73640957T>C | CA427024251 | NAT8 | c.672A>G (p.Val224=)
| dbSNP |
2 | g.73640957T>G | CA427024250 | NAT8 | c.672A>C (p.Val224=)
| |
2 | g.73640957T= | CA1261057085 | NAT8 | c.672A= (p.Val224=)
| |
2 | g.73640958A= | CA1261057086 | NAT8 | c.671T= (p.Val224=)
| |
2 | g.73640958A>C | CA347286006 | NAT8 | c.671T>G (p.Val224Gly)
| |
2 | g.73640958A>G | CA1715632 | NAT8 | c.671T>C (p.Val224Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640958A>T | CA347286009 | NAT8 | c.671T>A (p.Val224Glu)
| |
2 | g.73640959C>A | CA347286012 | NAT8 | c.670G>T (p.Val224Leu)
| gnomAD v4 |
2 | g.73640959C= | CA1261057087 | NAT8 | c.670G= (p.Val224=)
| |
2 | g.73640959C>G | CA347286013 | NAT8 | c.670G>C (p.Val224Leu)
| |
2 | g.73640959C>T | CA1715633 | NAT8 | c.670G>A (p.Val224Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640959_73640961delinsCCT | CA1261057088 | NAT8 | c.668_670delinsAGG (p.Lys223=)
| |
2 | g.73640960C>A | CA347286015 | NAT8 | c.669G>T (p.Lys223Asn)
| |
2 | g.73640960C>G | CA347286019 | NAT8 | c.669G>C (p.Lys223Asn)
| |
2 | g.73640960C>T | CA427024254 | NAT8 | c.669G>A (p.Lys223=)
| |
2 | g.73640960_73640961del | CA892866997 | NAT8 | c.668_669del (p.Lys223SerfsTer15)
| dbSNP |
2 | g.73640961T>A | CA347286021 | NAT8 | c.668A>T (p.Lys223Met)
| |
2 | g.73640961T>C | CA347286024 | NAT8 | c.668A>G (p.Lys223Arg)
| |
2 | g.73640961T>G | CA347286022 | NAT8 | c.668A>C (p.Lys223Thr)
| |
2 | g.73640962T>A | CA347286026 | NAT8 | c.667A>T (p.Lys223Ter)
| |
2 | g.73640962T>C | CA347286028 | NAT8 | c.667A>G (p.Lys223Glu)
| |
2 | g.73640962T>G | CA50370854 | NAT8 | c.667A>C (p.Lys223Gln)
| dbSNP gnomAD v4 |
2 | g.73640962T= | CA1261057090 | NAT8 | c.667A= (p.Lys223=)
| |
2 | g.73640962_73640965delinsTAGA | CA1261057089 | NAT8 | c.664_667delinsTCTA (p.Ser222=)
| |
2 | g.73640963A>C | CA427024255 | NAT8 | c.666T>G (p.Ser222=)
| |
2 | g.73640963A>G | CA427024256 | NAT8 | c.666T>C (p.Ser222=)
| |
2 | g.73640963A>T | CA427024258 | NAT8 | c.666T>A (p.Ser222=)
| |
2 | g.73640968_73640970del | CA892867001 | NAT8 | c.664_666del (p.Ser222del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640964G>A | CA347286031 | NAT8 | c.665C>T (p.Ser222Phe)
| dbSNP COSMIC |
2 | g.73640964G>C | CA347286032 | NAT8 | c.665C>G (p.Ser222Cys)
| |
2 | g.73640964G= | CA1261057091 | NAT8 | c.665C= (p.Ser222=)
| |
2 | g.73640964G>T | CA347286033 | NAT8 | c.665C>A (p.Ser222Tyr)
| gnomAD v4 |
2 | g.73640965A= | CA1261057092 | NAT8 | c.664T= (p.Ser222=)
| |
2 | g.73640965A>C | CA50370855 | NAT8 | c.664T>G (p.Ser222Ala)
| dbSNP |
2 | g.73640965A>G | CA347286037 | NAT8 | c.664T>C (p.Ser222Pro)
| |
2 | g.73640965A>T | CA347286039 | NAT8 | c.664T>A (p.Ser222Thr)
| |
2 | g.73640966A>C | CA427024261 | NAT8 | c.663T>G (p.Ser221=)
| |
2 | g.73640966A>G | CA427024262 | NAT8 | c.663T>C (p.Ser221=)
| |
2 | g.73640966A>T | CA427024263 | NAT8 | c.663T>A (p.Ser221=)
| |
2 | g.73640967G>A | CA50370857 | NAT8 | c.662C>T (p.Ser221Phe)
| dbSNP gnomAD v4 |
2 | g.73640967G>C | CA347286042 | NAT8 | c.662C>G (p.Ser221Cys)
| |
2 | g.73640967G= | CA1261057093 | NAT8 | c.662C= (p.Ser221=)
| |
2 | g.73640967G>T | CA1715634 | NAT8 | c.662C>A (p.Ser221Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640968A>C | CA347286044 | NAT8 | c.661T>G (p.Ser221Ala)
| |
2 | g.73640968A>G | CA347286045 | NAT8 | c.661T>C (p.Ser221Pro)
| COSMIC |
2 | g.73640968A>T | CA347286046 | NAT8 | c.661T>A (p.Ser221Thr)
| |
2 | g.73640969A>C | CA427024267 | NAT8 | c.660T>G (p.Pro220=)
| |
2 | g.73640969A>G | CA427024268 | NAT8 | c.660T>C (p.Pro220=)
| |
2 | g.73640969A>T | CA427024269 | NAT8 | c.660T>A (p.Pro220=)
| |
2 | g.73640970G>A | CA347286048 | NAT8 | c.659C>T (p.Pro220Leu)
| |
2 | g.73640970G>C | CA347286051 | NAT8 | c.659C>G (p.Pro220Arg)
| gnomAD v4 |
2 | g.73640970G>T | CA347286049 | NAT8 | c.659C>A (p.Pro220His)
| |
2 | g.73640971_73640978del | CA2577005384 | NAT8 | c.652_659del (p.His218PhefsTer3)
| |
2 | g.73640971G>A | CA347286053 | NAT8 | c.658C>T (p.Pro220Ser)
| |
2 | g.73640971G>C | CA1715635 | NAT8 | c.658C>G (p.Pro220Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640971G= | CA1261057094 | NAT8 | c.658C= (p.Pro220=)
| |
2 | g.73640971G>T | CA347286056 | NAT8 | c.658C>A (p.Pro220Thr)
| gnomAD v4 |
2 | g.73640972G>A | CA1715636 | NAT8 | c.657C>T (p.Leu219=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640972G>C | CA50370882 | NAT8 | c.657C>G (p.Leu219=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640972G= | CA1261057095 | NAT8 | c.657C= (p.Leu219=)
| |
2 | g.73640972G>T | CA427024270 | NAT8 | c.657C>A (p.Leu219=)
| |
2 | g.73640973A>C | CA347286060 | NAT8 | c.656T>G (p.Leu219Arg)
| |
2 | g.73640973A>G | CA347286061 | NAT8 | c.656T>C (p.Leu219Pro)
| |
2 | g.73640973A>T | CA347286062 | NAT8 | c.656T>A (p.Leu219His)
| |
2 | g.73640974G>A | CA347286064 | NAT8 | c.655C>T (p.Leu219Phe)
| |
2 | g.73640974G>C | CA347286066 | NAT8 | c.655C>G (p.Leu219Val)
| |
2 | g.73640974G>T | CA347286068 | NAT8 | c.655C>A (p.Leu219Ile)
| |
2 | g.73640975G>A | CA427024274 | NAT8 | c.654C>T (p.His218=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73640975G>C | CA347286072 | NAT8 | c.654C>G (p.His218Gln)
| |
2 | g.73640975G= | CA1261057096 | NAT8 | c.654C= (p.His218=)
| |
2 | g.73640975G>T | CA347286071 | NAT8 | c.654C>A (p.His218Gln)
| gnomAD v4 |
2 | g.73640976T>A | CA347286074 | NAT8 | c.653A>T (p.His218Leu)
| |
2 | g.73640976T>C | CA347286076 | NAT8 | c.653A>G (p.His218Arg)
| gnomAD v4 |
2 | g.73640976T>G | CA347286078 | NAT8 | c.653A>C (p.His218Pro)
| |
2 | g.73640977G>A | CA347286080 | NAT8 | c.652C>T (p.His218Tyr)
| dbSNP gnomAD v4 |
2 | g.73640977G>C | CA347286082 | NAT8 | c.652C>G (p.His218Asp)
| |
2 | g.73640977G= | CA1261057097 | NAT8 | c.652C= (p.His218=)
| |
2 | g.73640977G>T | CA347286084 | NAT8 | c.652C>A (p.His218Asn)
| |
2 | g.73640978G>A | CA1715637 | NAT8 | c.651C>T (p.Tyr217=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640978G>C | CA347286087 | NAT8 | c.651C>G (p.Tyr217Ter)
| |
2 | g.73640978G= | CA1261057098 | NAT8 | c.651C= (p.Tyr217=)
| |
2 | g.73640978G>T | CA347286089 | NAT8 | c.651C>A (p.Tyr217Ter)
| gnomAD v4 |
2 | g.73640979T>A | CA347286091 | NAT8 | c.650A>T (p.Tyr217Phe)
| gnomAD v4 |
2 | g.73640979T>C | CA347286093 | NAT8 | c.650A>G (p.Tyr217Cys)
| |
2 | g.73640979T>G | CA347286096 | NAT8 | c.650A>C (p.Tyr217Ser)
| |
2 | g.73640980A>C | CA347286099 | NAT8 | c.649T>G (p.Tyr217Asp)
| |
2 | g.73640980A>G | CA347286101 | NAT8 | c.649T>C (p.Tyr217His)
| gnomAD v4 |
2 | g.73640980A>T | CA347286098 | NAT8 | c.649T>A (p.Tyr217Asn)
| |
2 | g.73640981G>A | CA427024279 | NAT8 | c.648C>T (p.Ile216=)
| |
2 | g.73640981G>C | CA347286103 | NAT8 | c.648C>G (p.Ile216Met)
| |
2 | g.73640981G>T | CA427024280 | NAT8 | c.648C>A (p.Ile216=)
| |
2 | g.73640981_73640986delinsGATGAA | CA1261057099 | NAT8 | c.643_648delinsTTCATC (p.Phe215=)
| |
2 | g.73640982A>C | CA347286106 | NAT8 | c.647T>G (p.Ile216Ser)
| |
2 | g.73640982A>G | CA347286108 | NAT8 | c.647T>C (p.Ile216Thr)
| |
2 | g.73640982A>T | CA347286110 | NAT8 | c.647T>A (p.Ile216Asn)
| |
2 | g.73640987_73640991del | CA1715638 | NAT8 | c.643_647del (p.Phe215LeufsTer7)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640983T>A | CA347286119 | NAT8 | c.646A>T (p.Ile216Phe)
| |
2 | g.73640983T>C | CA347286112 | NAT8 | c.646A>G (p.Ile216Val)
| |
2 | g.73640983T>G | CA347286116 | NAT8 | c.646A>C (p.Ile216Leu)
| |
2 | g.73640984G>A | CA427024287 | NAT8 | c.645C>T (p.Phe215=)
| |
2 | g.73640984G>C | CA347286121 | NAT8 | c.645C>G (p.Phe215Leu)
| |
2 | g.73640984G>T | CA347286124 | NAT8 | c.645C>A (p.Phe215Leu)
| |
2 | g.73640985A>C | CA347286130 | NAT8 | c.644T>G (p.Phe215Cys)
| |
2 | g.73640985A>G | CA347286133 | NAT8 | c.644T>C (p.Phe215Ser)
| |
2 | g.73640985A>T | CA347286136 | NAT8 | c.644T>A (p.Phe215Tyr)
| |
2 | g.73640986A>C | CA347286146 | NAT8 | c.643T>G (p.Phe215Val)
| gnomAD v4 |
2 | g.73640986A>G | CA347286143 | NAT8 | c.643T>C (p.Phe215Leu)
| |
2 | g.73640986A>T | CA347286140 | NAT8 | c.643T>A (p.Phe215Ile)
| |
2 | g.73640987A>C | CA347286150 | NAT8 | c.642T>G (p.His214Gln)
| |
2 | g.73640987A>G | CA427024290 | NAT8 | c.642T>C (p.His214=)
| |
2 | g.73640987A>T | CA347286152 | NAT8 | c.642T>A (p.His214Gln)
| |
2 | g.73640988T>A | CA347286155 | NAT8 | c.641A>T (p.His214Leu)
| |
2 | g.73640988T>C | CA1715639 | NAT8 | c.641A>G (p.His214Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640988T>G | CA347286160 | NAT8 | c.641A>C (p.His214Pro)
| |
2 | g.73640988T= | CA1261057100 | NAT8 | c.641A= (p.His214=)
| |
2 | g.73640989G>A | CA1715640 | NAT8 | c.640C>T (p.His214Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73640989G>C | CA347286166 | NAT8 | c.640C>G (p.His214Asp)
| |
2 | g.73640989G= | CA1261057101 | NAT8 | c.640C= (p.His214=)
| |
2 | g.73640989G>T | CA347286170 | NAT8 | c.640C>A (p.His214Asn)
| dbSNP gnomAD v4 |
2 | g.73640990A>C | CA427024294 | NAT8 | c.639T>G (p.Val213=)
| |
2 | g.73640990A>G | CA427024296 | NAT8 | c.639T>C (p.Val213=)
| |
2 | g.73640990A>T | CA427024295 | NAT8 | c.639T>A (p.Val213=)
| |
2 | g.73640991A= | CA1261057102 | NAT8 | c.638T= (p.Val213=)
| |
2 | g.73640991A>C | CA347286174 | NAT8 | c.638T>G (p.Val213Gly)
| |
2 | g.73640991A>G | CA347286177 | NAT8 | c.638T>C (p.Val213Ala)
| dbSNP gnomAD v4 |
2 | g.73640991A>T | CA347286179 | NAT8 | c.638T>A (p.Val213Asp)
| |
2 | g.73640992C>A | CA347286184 | NAT8 | c.637G>T (p.Val213Phe)
| |
2 | g.73640992C>G | CA347286187 | NAT8 | c.637G>C (p.Val213Leu)
| |
2 | g.73640992C>T | CA347286191 | NAT8 | c.637G>A (p.Val213Ile)
| |
2 | g.73640993T>A | CA427024301 | NAT8 | c.636A>T (p.Thr212=)
| |
2 | g.73640993T>C | CA427024302 | NAT8 | c.636A>G (p.Thr212=)
| |
2 | g.73640993T>G | CA427024303 | NAT8 | c.636A>C (p.Thr212=)
| |
2 | g.73640994G>A | CA347286200 | NAT8 | c.635C>T (p.Thr212Ile)
| gnomAD v4 |
2 | g.73640994G>C | CA347286198 | NAT8 | c.635C>G (p.Thr212Arg)
| |
2 | g.73640994G= | CA1261057103 | NAT8 | c.635C= (p.Thr212=)
| |
2 | g.73640994G>T | CA347286195 | NAT8 | c.635C>A (p.Thr212Lys)
| |
2 | g.73640995T>A | CA347286211 | NAT8 | c.634A>T (p.Thr212Ser)
| |
2 | g.73640995T>C | CA347286214 | NAT8 | c.634A>G (p.Thr212Ala)
| |
2 | g.73640995T>G | CA347286217 | NAT8 | c.634A>C (p.Thr212Pro)
| |
2 | g.73640995dup | CA1715641 | NAT8 | c.634dup (p.Thr212AsnfsTer12)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73640996A= | CA1261057104 | NAT8 | c.633T= (p.His211=)
| |
2 | g.73640996A>C | CA347286219 | NAT8 | c.633T>G (p.His211Gln)
| |
2 | g.73640996A>G | CA427024308 | NAT8 | c.633T>C (p.His211=)
| gnomAD v4 |
2 | g.73640996A>T | CA347286221 | NAT8 | c.633T>A (p.His211Gln)
| gnomAD v4 |
2 | g.73640997T>A | CA347286224 | NAT8 | c.632A>T (p.His211Leu)
| |
2 | g.73640997T>C | CA347286228 | NAT8 | c.632A>G (p.His211Arg)
| |
2 | g.73640997T>G | CA347286231 | NAT8 | c.632A>C (p.His211Pro)
| |
2 | g.73640997dup | CA50370914 | NAT8 | c.632dup (p.His211GlnfsTer13)
| dbSNP |
2 | g.73640998G>A | CA347286234 | NAT8 | c.631C>T (p.His211Tyr)
| |
2 | g.73640998G>C | CA347286235 | NAT8 | c.631C>G (p.His211Asp)
| gnomAD v4 |
2 | g.73640998G>T | CA347286240 | NAT8 | c.631C>A (p.His211Asn)
| |
2 | g.73640999A>C | CA427024321 | NAT8 | c.630T>G (p.Leu210=)
| |
2 | g.73640999A>G | CA427024320 | NAT8 | c.630T>C (p.Leu210=)
| |
2 | g.73640999A>T | CA427024319 | NAT8 | c.630T>A (p.Leu210=)
| |
2 | g.73641000A= | CA1261057105 | NAT8 | c.629T= (p.Leu210=)
| |
2 | g.73641000A>C | CA347286250 | NAT8 | c.629T>G (p.Leu210Arg)
| |
2 | g.73641000A>G | CA347286247 | NAT8 | c.629T>C (p.Leu210Pro)
| dbSNP |
2 | g.73641000A>T | CA347286244 | NAT8 | c.629T>A (p.Leu210His)
| |
2 | g.73641001G>A | CA347286254 | NAT8 | c.628C>T (p.Leu210Phe)
| |
2 | g.73641001G>C | CA347286257 | NAT8 | c.628C>G (p.Leu210Val)
| |
2 | g.73641001G>T | CA347286261 | NAT8 | c.628C>A (p.Leu210Ile)
| |
2 | g.73641002A>C | CA427024324 | NAT8 | c.627T>G (p.Ala209=)
| |
2 | g.73641002A>G | CA427024326 | NAT8 | c.627T>C (p.Ala209=)
| |
2 | g.73641002A>T | CA427024327 | NAT8 | c.627T>A (p.Ala209=)
| |
2 | g.73641003G>A | CA347286262 | NAT8 | c.626C>T (p.Ala209Val)
| |
2 | g.73641003G>C | CA347286264 | NAT8 | c.626C>G (p.Ala209Gly)
| |
2 | g.73641003G= | CA1261057106 | NAT8 | c.626C= (p.Ala209=)
| |
2 | g.73641003G>T | CA50370919 | NAT8 | c.626C>A (p.Ala209Asp)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641004C>A | CA347286266 | NAT8 | c.625G>T (p.Ala209Ser)
| |
2 | g.73641004C>G | CA347286268 | NAT8 | c.625G>C (p.Ala209Pro)
| |
2 | g.73641004C>T | CA347286270 | NAT8 | c.625G>A (p.Ala209Thr)
| gnomAD v4 |
2 | g.73641005C>A | CA427024329 | NAT8 | c.624G>T (p.Val208=)
| |
2 | g.73641005C= | CA1261057107 | NAT8 | c.624G= (p.Val208=)
| |
2 | g.73641005C>G | CA1715642 | NAT8 | c.624G>C (p.Val208=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641005C>T | CA427024331 | NAT8 | c.624G>A (p.Val208=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641006A>C | CA347286273 | NAT8 | c.623T>G (p.Val208Gly)
| |
2 | g.73641006A>G | CA347286275 | NAT8 | c.623T>C (p.Val208Ala)
| |
2 | g.73641006A>T | CA347286276 | NAT8 | c.623T>A (p.Val208Glu)
| |
2 | g.73641007C>A | CA347286280 | NAT8 | c.622G>T (p.Val208Leu)
| |
2 | g.73641007C= | CA1261057108 | NAT8 | c.622G= (p.Val208=)
| |
2 | g.73641007C>G | CA1715644 | NAT8 | c.622G>C (p.Val208Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641007C>T | CA1715643 | NAT8 | c.622G>A (p.Val208Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641008T>A | CA427024333 | NAT8 | c.621A>T (p.Leu207=)
| |
2 | g.73641008T>C | CA50370925 | NAT8 | c.621A>G (p.Leu207=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641008T>G | CA427024334 | NAT8 | c.621A>C (p.Leu207=)
| |
2 | g.73641008T= | CA1261057109 | NAT8 | c.621A= (p.Leu207=)
| |
2 | g.73641009A= | CA1261057110 | NAT8 | c.620T= (p.Leu207=)
| |
2 | g.73641009A>C | CA347286284 | NAT8 | c.620T>G (p.Leu207Arg)
| |
2 | g.73641009A>G | CA347286289 | NAT8 | c.620T>C (p.Leu207Pro)
| |
2 | g.73641009A>T | CA1715645 | NAT8 | c.620T>A (p.Leu207Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641010G>A | CA427024338 | NAT8 | c.619C>T (p.Leu207=)
| dbSNP gnomAD v4 |
2 | g.73641010G>C | CA347286294 | NAT8 | c.619C>G (p.Leu207Val)
| |
2 | g.73641010G= | CA1261057111 | NAT8 | c.619C= (p.Leu207=)
| |
2 | g.73641010G>T | CA347286296 | NAT8 | c.619C>A (p.Leu207Ile)
| |
2 | g.73641011C>A | CA347286300 | NAT8 | c.618G>T (p.Arg206Ser)
| |
2 | g.73641011C= | CA1261057112 | NAT8 | c.618G= (p.Arg206=)
| |
2 | g.73641011C>G | CA347286303 | NAT8 | c.618G>C (p.Arg206Ser)
| gnomAD v4 |
2 | g.73641011C>T | CA1715646 | NAT8 | c.618G>A (p.Arg206=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641012C>A | CA347286309 | NAT8 | c.617G>T (p.Arg206Met)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641012C= | CA1261057113 | NAT8 | c.617G= (p.Arg206=)
| |
2 | g.73641012C>G | CA347286311 | NAT8 | c.617G>C (p.Arg206Thr)
| gnomAD v4 |
2 | g.73641012C>T | CA347286314 | NAT8 | c.617G>A (p.Arg206Lys)
| dbSNP |
2 | g.73641019_73641041dup | CA2659622943 | NAT8 | c.595_617dup (p.Arg206SerfsTer10)
| gnomAD v4 |
2 | g.73641013T>A | CA347286319 | NAT8 | c.616A>T (p.Arg206Trp)
| |
2 | g.73641013T>C | CA347286323 | NAT8 | c.616A>G (p.Arg206Gly)
| gnomAD v4 |
2 | g.73641013T>G | CA427024343 | NAT8 | c.616A>C (p.Arg206=)
| dbSNP |
2 | g.73641013T= | CA1261057114 | NAT8 | c.616A= (p.Arg206=)
| |
2 | g.73641014G>A | CA427024345 | NAT8 | c.615C>T (p.Ala205=)
| |
2 | g.73641014G>C | CA427024346 | NAT8 | c.615C>G (p.Ala205=)
| |
2 | g.73641014G= | CA1261057115 | NAT8 | c.615C= (p.Ala205=)
| |
2 | g.73641014G>T | CA427024347 | NAT8 | c.615C>A (p.Ala205=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641015G>A | CA50370945 | NAT8 | c.614C>T (p.Ala205Val)
| dbSNP |
2 | g.73641015G>C | CA1715647 | NAT8 | c.614C>G (p.Ala205Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641015G= | CA1261057116 | NAT8 | c.614C= (p.Ala205=)
| |
2 | g.73641015G>T | CA347286327 | NAT8 | c.614C>A (p.Ala205Asp)
| |
2 | g.73641016C>A | CA347286333 | NAT8 | c.613G>T (p.Ala205Ser)
| |
2 | g.73641016C>G | CA347286338 | NAT8 | c.613G>C (p.Ala205Pro)
| |
2 | g.73641016C>T | CA347286335 | NAT8 | c.613G>A (p.Ala205Thr)
| |
2 | g.73641017C>A | CA347286343 | NAT8 | c.612G>T (p.Trp204Cys)
| |
2 | g.73641017C>G | CA347286345 | NAT8 | c.612G>C (p.Trp204Cys)
| |
2 | g.73641017C>T | CA347286348 | NAT8 | c.612G>A (p.Trp204Ter)
| |
2 | g.73641018C>A | CA347286360 | NAT8 | c.611G>T (p.Trp204Leu)
| |
2 | g.73641018C>G | CA347286363 | NAT8 | c.611G>C (p.Trp204Ser)
| |
2 | g.73641018C>T | CA347286366 | NAT8 | c.611G>A (p.Trp204Ter)
| gnomAD v4 |
2 | g.73641024_73641025del | CA2659622944 | NAT8 | c.610_611del (p.Trp204GlyfsTer19)
| gnomAD v4 |
2 | g.73641019A= | CA1261057117 | NAT8 | c.610T= (p.Trp204=)
| |
2 | g.73641019A>C | CA1715648 | NAT8 | c.610T>G (p.Trp204Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641019A>G | CA347286371 | NAT8 | c.610T>C (p.Trp204Arg)
| |
2 | g.73641019A>T | CA347286375 | NAT8 | c.610T>A (p.Trp204Arg)
| |
2 | g.73641020C>A | CA427024359 | NAT8 | c.609G>T (p.Val203=)
| gnomAD v4 |
2 | g.73641020C= | CA1261057118 | NAT8 | c.609G= (p.Val203=)
| |
2 | g.73641020C>G | CA1715649 | NAT8 | c.609G>C (p.Val203=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641020C>T | CA427024360 | NAT8 | c.609G>A (p.Val203=)
| |
2 | g.73641021A>C | CA347286382 | NAT8 | c.608T>G (p.Val203Gly)
| |
2 | g.73641021A>G | CA347286385 | NAT8 | c.608T>C (p.Val203Ala)
| gnomAD v4 |
2 | g.73641021A>T | CA347286387 | NAT8 | c.608T>A (p.Val203Glu)
| |
2 | g.73641022C>A | CA347286392 | NAT8 | c.607G>T (p.Val203Leu)
| |
2 | g.73641022C>G | CA347286399 | NAT8 | c.607G>C (p.Val203Leu)
| |
2 | g.73641022C>T | CA347286395 | NAT8 | c.607G>A (p.Val203Met)
| gnomAD v4 |
2 | g.73641023A= | CA1261057119 | NAT8 | c.606T= (p.Cys202=)
| |
2 | g.73641023A>C | CA1715650 | NAT8 | c.606T>G (p.Cys202Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641023A>G | CA1715651 | NAT8 | c.606T>C (p.Cys202=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641023A>T | CA347286405 | NAT8 | c.606T>A (p.Cys202Ter)
| |
2 | g.73641024C>A | CA347286408 | NAT8 | c.605G>T (p.Cys202Phe)
| |
2 | g.73641024C= | CA1261057120 | NAT8 | c.605G= (p.Cys202=)
| |
2 | g.73641024C>G | CA347286413 | NAT8 | c.605G>C (p.Cys202Ser)
| |
2 | g.73641024C>T | CA1715653 | NAT8 | c.605G>A (p.Cys202Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641024_73641027delinsCAGA | CA1261057121 | NAT8 | c.602_605delinsTCTG (p.Phe201=)
| |
2 | g.73641025A= | CA1261057122 | NAT8 | c.604T= (p.Cys202=)
| |
2 | g.73641025A>C | CA347286418 | NAT8 | c.604T>G (p.Cys202Gly)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641025A>G | CA1715654 | NAT8 | c.604T>C (p.Cys202Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641025A>T | CA347286423 | NAT8 | c.604T>A (p.Cys202Ser)
| |
2 | g.73641026_73641027del | CA2659622945 | NAT8 | c.603_604del (p.Phe201LeufsTer22)
| gnomAD v4 |
2 | g.73641030_73641032del | CA1715652 | NAT8 | c.602_604del (p.Phe201del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641026G>A | CA427024372 | NAT8 | c.603C>T (p.Phe201=)
| gnomAD v4 |
2 | g.73641026G>C | CA1715655 | NAT8 | c.603C>G (p.Phe201Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641026G= | CA1261057123 | NAT8 | c.603C= (p.Phe201=)
| |
2 | g.73641026G>T | CA347286431 | NAT8 | c.603C>A (p.Phe201Leu)
| |
2 | g.73641027A= | CA1261057124 | NAT8 | c.602T= (p.Phe201=)
| |
2 | g.73641027A>C | CA347286435 | NAT8 | c.602T>G (p.Phe201Cys)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641027A>G | CA347286439 | NAT8 | c.602T>C (p.Phe201Ser)
| |
2 | g.73641027A>T | CA347286443 | NAT8 | c.602T>A (p.Phe201Tyr)
| |
2 | g.73641028A>C | CA347286447 | NAT8 | c.601T>G (p.Phe201Val)
| |
2 | g.73641028A>G | CA347286450 | NAT8 | c.601T>C (p.Phe201Leu)
| gnomAD v4 |
2 | g.73641028A>T | CA347286453 | NAT8 | c.601T>A (p.Phe201Ile)
| |
2 | g.73641029G>A | CA427024377 | NAT8 | c.600C>T (p.Phe200=)
| gnomAD v4 |
2 | g.73641029G>C | CA347286458 | NAT8 | c.600C>G (p.Phe200Leu)
| |
2 | g.73641029G>T | CA347286456 | NAT8 | c.600C>A (p.Phe200Leu)
| gnomAD v4 |
2 | g.73641029_73641030insT | CA2659622946 | NAT8 | c.599_600insA (p.Phe200LeufsTer24)
| gnomAD v4 |
2 | g.73641030A= | CA1261057125 | NAT8 | c.599T= (p.Phe200=)
| |
2 | g.73641030A>C | CA347286463 | NAT8 | c.599T>G (p.Phe200Cys)
| |
2 | g.73641030A>G | CA347286465 | NAT8 | c.599T>C (p.Phe200Ser)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641030A>T | CA347286468 | NAT8 | c.599T>A (p.Phe200Tyr)
| |
2 | g.73641031A>C | CA347286471 | NAT8 | c.598T>G (p.Phe200Val)
| |
2 | g.73641031A>G | CA347286476 | NAT8 | c.598T>C (p.Phe200Leu)
| COSMIC |
2 | g.73641031A>T | CA347286480 | NAT8 | c.598T>A (p.Phe200Ile)
| |
2 | g.73641032G>A | CA427024382 | NAT8 | c.597C>T (p.Ser199=)
| |
2 | g.73641032G>C | CA427024384 | NAT8 | c.597C>G (p.Ser199=)
| |
2 | g.73641032G>T | CA427024387 | NAT8 | c.597C>A (p.Ser199=)
| |