2 | g.73640968_73640970del | CA892867001 | NAT8 | c.664_666del (p.Ser222del)
| dbSNP gnomAD v3 gnomAD v4 |
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=)
| |
2 | g.73641033G>A | CA347286484 | NAT8 | c.596C>T (p.Ser199Phe)
| |
2 | g.73641033G>C | CA347286488 | NAT8 | c.596C>G (p.Ser199Cys)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641033G= | CA1261057126 | NAT8 | c.596C= (p.Ser199=)
| |
2 | g.73641033G>T | CA1715656 | NAT8 | c.596C>A (p.Ser199Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641034A>C | CA347286491 | NAT8 | c.595T>G (p.Ser199Ala)
| |
2 | g.73641034A>G | CA347286494 | NAT8 | c.595T>C (p.Ser199Pro)
| |
2 | g.73641034A>T | CA347286497 | NAT8 | c.595T>A (p.Ser199Thr)
| |
2 | g.73641035C>A | CA347286500 | NAT8 | c.594G>T (p.Gln198His)
| |
2 | g.73641035C= | CA1261057127 | NAT8 | c.594G= (p.Gln198=)
| |
2 | g.73641035C>G | CA347286503 | NAT8 | c.594G>C (p.Gln198His)
| dbSNP gnomAD v4 |
2 | g.73641035C>T | CA427024394 | NAT8 | c.594G>A (p.Gln198=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641036T>A | CA347286508 | NAT8 | c.593A>T (p.Gln198Leu)
| |
2 | g.73641036T>C | CA347286510 | NAT8 | c.593A>G (p.Gln198Arg)
| |
2 | g.73641036T>G | CA347286514 | NAT8 | c.593A>C (p.Gln198Pro)
| |
2 | g.73641037G>A | CA347286517 | NAT8 | c.592C>T (p.Gln198Ter)
| gnomAD v4 |
2 | g.73641037G>C | CA347286525 | NAT8 | c.592C>G (p.Gln198Glu)
| |
2 | g.73641037G>T | CA347286527 | NAT8 | c.592C>A (p.Gln198Lys)
| |
2 | g.73641038G>A | CA427024412 | NAT8 | c.591C>T (p.Gly197=)
| |
2 | g.73641038G>C | CA427024414 | NAT8 | c.591C>G (p.Gly197=)
| |
2 | g.73641038G>T | CA427024415 | NAT8 | c.591C>A (p.Gly197=)
| dbSNP |
2 | g.73641039C>A | CA347286535 | NAT8 | c.590G>T (p.Gly197Val)
| |
2 | g.73641039C>G | CA347286531 | NAT8 | c.590G>C (p.Gly197Ala)
| |
2 | g.73641039C>T | CA347286530 | NAT8 | c.590G>A (p.Gly197Asp)
| |
2 | g.73641040C>A | CA347286543 | NAT8 | c.589G>T (p.Gly197Cys)
| |
2 | g.73641040C= | CA1261057128 | NAT8 | c.589G= (p.Gly197=)
| |
2 | g.73641040C>G | CA347286539 | NAT8 | c.589G>C (p.Gly197Arg)
| |
2 | g.73641040C>T | CA50370988 | NAT8 | c.589G>A (p.Gly197Ser)
| dbSNP |
2 | g.73641041C>A | CA427024433 | NAT8 | c.588G>T (p.Thr196=)
| gnomAD v4 |
2 | g.73641041C= | CA1261057129 | NAT8 | c.588G= (p.Thr196=)
| |
2 | g.73641041C>G | CA427024432 | NAT8 | c.588G>C (p.Thr196=)
| dbSNP |
2 | g.73641041C>T | CA1715657 | NAT8 | c.588G>A (p.Thr196=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641042G>A | CA1715658 | NAT8 | c.587C>T (p.Thr196Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641042G>C | CA347286553 | NAT8 | c.587C>G (p.Thr196Arg)
| |
2 | g.73641042G= | CA1261057130 | NAT8 | c.587C= (p.Thr196=)
| |
2 | g.73641042G>T | CA347286554 | NAT8 | c.587C>A (p.Thr196Lys)
| |
2 | g.73641043T>A | CA347286558 | NAT8 | c.586A>T (p.Thr196Ser)
| |
2 | g.73641043T>C | CA347286560 | NAT8 | c.586A>G (p.Thr196Ala)
| |
2 | g.73641043T>G | CA347286563 | NAT8 | c.586A>C (p.Thr196Pro)
| gnomAD v4 |
2 | g.73641044C>A | CA347286565 | NAT8 | c.585G>T (p.Lys195Asn)
| |
2 | g.73641044C= | CA1261057131 | NAT8 | c.585G= (p.Lys195=)
| |
2 | g.73641044C>G | CA347286568 | NAT8 | c.585G>C (p.Lys195Asn)
| ClinVar COSMIC |
2 | g.73641044C>T | CA427024447 | NAT8 | c.585G>A (p.Lys195=)
| dbSNP |
2 | g.73641045T>A | CA347286572 | NAT8 | c.584A>T (p.Lys195Met)
| |
2 | g.73641045T>C | CA347286575 | NAT8 | c.584A>G (p.Lys195Arg)
| |
2 | g.73641045T>G | CA347286579 | NAT8 | c.584A>C (p.Lys195Thr)
| COSMIC |
2 | g.73641046T>A | CA347286586 | NAT8 | c.583A>T (p.Lys195Ter)
| |
2 | g.73641046T>C | CA347286589 | NAT8 | c.583A>G (p.Lys195Glu)
| dbSNP gnomAD v2 |
2 | g.73641046T>G | CA347286583 | NAT8 | c.583A>C (p.Lys195Gln)
| |
2 | g.73641046T= | CA1261057132 | NAT8 | c.583A= (p.Lys195=)
| |
2 | g.73641047C>A | CA347286592 | NAT8 | c.582G>T (p.Lys194Asn)
| |
2 | g.73641047C>G | CA347286596 | NAT8 | c.582G>C (p.Lys194Asn)
| gnomAD v4 |
2 | g.73641047C>T | CA427024453 | NAT8 | c.582G>A (p.Lys194=)
| |
2 | g.73641048T>A | CA347286599 | NAT8 | c.581A>T (p.Lys194Met)
| |
2 | g.73641048T>C | CA347286602 | NAT8 | c.581A>G (p.Lys194Arg)
| gnomAD v4 |
2 | g.73641048T>G | CA347286605 | NAT8 | c.581A>C (p.Lys194Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641048T= | CA1261057133 | NAT8 | c.581A= (p.Lys194=)
| |
2 | g.73641049T>A | CA347286615 | NAT8 | c.580A>T (p.Lys194Ter)
| |
2 | g.73641049T>C | CA347286608 | NAT8 | c.580A>G (p.Lys194Glu)
| gnomAD v4 |
2 | g.73641049T>G | CA347286612 | NAT8 | c.580A>C (p.Lys194Gln)
| |
2 | g.73641050G>A | CA427024459 | NAT8 | c.579C>T (p.Phe193=)
| |
2 | g.73641050G>C | CA347286618 | NAT8 | c.579C>G (p.Phe193Leu)
| |
2 | g.73641050G>T | CA347286620 | NAT8 | c.579C>A (p.Phe193Leu)
| |
2 | g.73641051A>C | CA347286627 | NAT8 | c.578T>G (p.Phe193Cys)
| |
2 | g.73641051A>G | CA347286628 | NAT8 | c.578T>C (p.Phe193Ser)
| |
2 | g.73641051A>T | CA347286630 | NAT8 | c.578T>A (p.Phe193Tyr)
| |
2 | g.73641052A>C | CA347286640 | NAT8 | c.577T>G (p.Phe193Val)
| |
2 | g.73641052A>G | CA347286638 | NAT8 | c.577T>C (p.Phe193Leu)
| |
2 | g.73641052A>T | CA347286635 | NAT8 | c.577T>A (p.Phe193Ile)
| |
2 | g.73641053G>A | CA427024468 | NAT8 | c.576C>T (p.Gly192=)
| |
2 | g.73641053G>C | CA427024470 | NAT8 | c.576C>G (p.Gly192=)
| |
2 | g.73641053G>T | CA427024472 | NAT8 | c.576C>A (p.Gly192=)
| |
2 | g.73641054C>A | CA347286645 | NAT8 | c.575G>T (p.Gly192Val)
| dbSNP |
2 | g.73641054C= | CA1261057134 | NAT8 | c.575G= (p.Gly192=)
| |
2 | g.73641054C>G | CA347286647 | NAT8 | c.575G>C (p.Gly192Ala)
| gnomAD v4 |
2 | g.73641054C>T | CA347286650 | NAT8 | c.575G>A (p.Gly192Asp)
| |
2 | g.73641055C>A | CA347286655 | NAT8 | c.574G>T (p.Gly192Cys)
| |
2 | g.73641055C>G | CA347286658 | NAT8 | c.574G>C (p.Gly192Arg)
| |
2 | g.73641055C>T | CA347286661 | NAT8 | c.574G>A (p.Gly192Ser)
| |
2 | g.73641056C>A | CA347286664 | NAT8 | c.573G>T (p.Met191Ile)
| |
2 | g.73641056C>G | CA347286668 | NAT8 | c.573G>C (p.Met191Ile)
| |
2 | g.73641056C>T | CA347286671 | NAT8 | c.573G>A (p.Met191Ile)
| gnomAD v4 |
2 | g.73641057A= | CA1261057135 | NAT8 | c.572T= (p.Met191=)
| |
2 | g.73641057A>C | CA347286674 | NAT8 | c.572T>G (p.Met191Arg)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641057A>G | CA1715659 | NAT8 | c.572T>C (p.Met191Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641057A>T | CA347286679 | NAT8 | c.572T>A (p.Met191Lys)
| |
2 | g.73641058T>A | CA1715660 | NAT8 | c.571A>T (p.Met191Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641058T>C | CA347286689 | NAT8 | c.571A>G (p.Met191Val)
| |
2 | g.73641058T>G | CA347286683 | NAT8 | c.571A>C (p.Met191Leu)
| |
2 | g.73641058T= | CA1261057136 | NAT8 | c.571A= (p.Met191=)
| |
2 | g.73641059G>A | CA1715661 | NAT8 | c.570C>T (p.Ser190=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641059G>C | CA347286693 | NAT8 | c.570C>G (p.Ser190Arg)
| |
2 | g.73641059G= | CA1261057137 | NAT8 | c.570C= (p.Ser190=)
| |
2 | g.73641059G>T | CA1715662 | NAT8 | c.570C>A (p.Ser190Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641060C>A | CA347286698 | NAT8 | c.569G>T (p.Ser190Ile)
| |
2 | g.73641060C>G | CA347286702 | NAT8 | c.569G>C (p.Ser190Thr)
| |
2 | g.73641060C>T | CA347286705 | NAT8 | c.569G>A (p.Ser190Asn)
| |
2 | g.73641061T>A | CA347286708 | NAT8 | c.568A>T (p.Ser190Cys)
| |
2 | g.73641061T>C | CA347286713 | NAT8 | c.568A>G (p.Ser190Gly)
| |
2 | g.73641061T>G | CA347286710 | NAT8 | c.568A>C (p.Ser190Arg)
| |
2 | g.73641062C>A | CA347286716 | NAT8 | c.567G>T (p.Gln189His)
| |
2 | g.73641062C= | CA1261057138 | NAT8 | c.567G= (p.Gln189=)
| |
2 | g.73641062C>G | CA347286719 | NAT8 | c.567G>C (p.Gln189His)
| gnomAD v4 |
2 | g.73641062C>T | CA427024491 | NAT8 | c.567G>A (p.Gln189=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641063T>A | CA347286722 | NAT8 | c.566A>T (p.Gln189Leu)
| |
2 | g.73641063T>C | CA347286725 | NAT8 | c.566A>G (p.Gln189Arg)
| |
2 | g.73641063T>G | CA347286728 | NAT8 | c.566A>C (p.Gln189Pro)
| |
2 | g.73641064G>A | CA347286733 | NAT8 | c.565C>T (p.Gln189Ter)
| gnomAD v4 |
2 | g.73641064G>C | CA347286735 | NAT8 | c.565C>G (p.Gln189Glu)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641064G= | CA1261057139 | NAT8 | c.565C= (p.Gln189=)
| |
2 | g.73641064G>T | CA347286731 | NAT8 | c.565C>A (p.Gln189Lys)
| |
2 | g.73641065G>A | CA427024499 | NAT8 | c.564C>T (p.Tyr188=)
| gnomAD v4 |
2 | g.73641065G>C | CA347286744 | NAT8 | c.564C>G (p.Tyr188Ter)
| |
2 | g.73641065G= | CA1261057140 | NAT8 | c.564C= (p.Tyr188=)
| |
2 | g.73641065G>T | CA347286746 | NAT8 | c.564C>A (p.Tyr188Ter)
| dbSNP |
2 | g.73641066T>A | CA347286749 | NAT8 | c.563A>T (p.Tyr188Phe)
| |
2 | g.73641066T>C | CA347286758 | NAT8 | c.563A>G (p.Tyr188Cys)
| |
2 | g.73641066T>G | CA347286761 | NAT8 | c.563A>C (p.Tyr188Ser)
| |
2 | g.73641067A>C | CA347286766 | NAT8 | c.562T>G (p.Tyr188Asp)
| |
2 | g.73641067A>G | CA347286769 | NAT8 | c.562T>C (p.Tyr188His)
| |
2 | g.73641067A>T | CA347286772 | NAT8 | c.562T>A (p.Tyr188Asn)
| |
2 | g.73641068G>A | CA427024510 | NAT8 | c.561C>T (p.Leu187=)
| |
2 | g.73641068G>C | CA427024509 | NAT8 | c.561C>G (p.Leu187=)
| |
2 | g.73641068G= | CA1261057141 | NAT8 | c.561C= (p.Leu187=)
| |
2 | g.73641068G>T | CA427024505 | NAT8 | c.561C>A (p.Leu187=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641069A>C | CA347286782 | NAT8 | c.560T>G (p.Leu187Arg)
| |
2 | g.73641069A>G | CA347286779 | NAT8 | c.560T>C (p.Leu187Pro)
| |
2 | g.73641069A>T | CA347286777 | NAT8 | c.560T>A (p.Leu187His)
| |
2 | g.73641070G>A | CA347286786 | NAT8 | c.559C>T (p.Leu187Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641070G>C | CA1715663 | NAT8 | c.559C>G (p.Leu187Val)
| dbSNP ExAC |
2 | g.73641070G= | CA1261057142 | NAT8 | c.559C= (p.Leu187=)
| |
2 | g.73641070G>T | CA347286791 | NAT8 | c.559C>A (p.Leu187Ile)
| |