Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.17138410_17138439dup | CA2580090800 | XYLT1 | c.1683_1712dup (p.Asp570_Trp571insCysLysCysGlnTyrLysHisIleValAsp) n.343_372dup n.315_344dup | ClinVar |
16 | g.17138416_17138422delinsATGTGCT | CA2210541964 | XYLT1 | c.1697_1703delinsAGCACAT (p.Lys566=) n.349_355delinsATGTGCT n.321_327delinsATGTGCT | |
16 | g.17138420_17138425del | CA7927815 | XYLT1 | c.1697_1702del (p.Lys566_His567del) n.353_358del n.325_330del | dbSNP ExAC gnomAD v2 |
16 | g.17138420G>A | CA394875247 | XYLT1 | c.1699C>T (p.His567Tyr) n.353G>A n.325G>A | gnomAD v4 |
16 | g.17138420G>C | CA394875246 | XYLT1 | c.1699C>G (p.His567Asp) n.353G>C n.325G>C | |
16 | g.17138420G= | CA2210541971 | XYLT1 | c.1699C= (p.His567=) n.353G= n.325G= | |
16 | g.17138420G>T | CA394875245 | XYLT1 | c.1699C>A (p.His567Asn) n.353G>T n.325G>T | dbSNP |
16 | g.17138421C>A | CA394875249 | XYLT1 | c.1698G>T (p.Lys566Asn) n.354C>A n.326C>A | |
16 | g.17138421C>G | CA394875248 | XYLT1 | c.1698G>C (p.Lys566Asn) n.354C>G n.326C>G | |
16 | g.17138421C>T | CA493797662 | XYLT1 | c.1698G>A (p.Lys566=) n.354C>T n.326C>T | |
16 | g.17138422T>A | CA394875251 | XYLT1 | c.1697A>T (p.Lys566Met) n.355T>A n.327T>A | |
16 | g.17138422T>C | CA394875250 | XYLT1 | c.1697A>G (p.Lys566Arg) n.355T>C n.327T>C | |
16 | g.17138422T>G | CA394875252 | XYLT1 | c.1697A>C (p.Lys566Thr) n.355T>G n.327T>G | |
16 | g.17138423T>A | CA394875253 | XYLT1 | c.1696A>T (p.Lys566Ter) n.356T>A n.328T>A | |
16 | g.17138423T>C | CA394875254 | XYLT1 | c.1696A>G (p.Lys566Glu) n.356T>C n.328T>C | |
16 | g.17138423T>G | CA394875255 | XYLT1 | c.1696A>C (p.Lys566Gln) n.356T>G n.328T>G | |
16 | g.17138423_17138431dup | CA2575925908 | XYLT1 | c.1688_1696dup (p.Tyr565_Lys566insSerGlnTyr) n.356_364dup n.328_336dup | |
16 | g.17138424G>A | CA493797663 | XYLT1 | c.1695C>T (p.Tyr565=) n.357G>A n.329G>A | gnomAD v4 |
16 | g.17138424G>C | CA394875256 | XYLT1 | c.1695C>G (p.Tyr565Ter) n.357G>C n.329G>C | |
16 | g.17138424G>T | CA394875257 | XYLT1 | c.1695C>A (p.Tyr565Ter) n.357G>T n.329G>T | |
16 | g.17138425T>A | CA394875258 | XYLT1 | c.1694A>T (p.Tyr565Phe) n.358T>A n.330T>A | |
16 | g.17138425T>C | CA394875259 | XYLT1 | c.1694A>G (p.Tyr565Cys) n.358T>C n.330T>C | |
16 | g.17138425T>G | CA394875260 | XYLT1 | c.1694A>C (p.Tyr565Ser) n.358T>G n.330T>G | |
16 | g.17138426A= | CA2210541973 | XYLT1 | c.1693T= (p.Tyr565=) n.359A= n.331A= | |
16 | g.17138426A>C | CA394875261 | XYLT1 | c.1693T>G (p.Tyr565Asp) n.359A>C n.331A>C | |
16 | g.17138426A>G | CA394875262 | XYLT1 | c.1693T>C (p.Tyr565His) n.359A>G n.331A>G | |
16 | g.17138426A>T | CA394875263 | XYLT1 | c.1693T>A (p.Tyr565Asn) n.359A>T n.331A>T | |
16 | g.17138427C>A | CA394875265 | XYLT1 | c.1692G>T (p.Gln564His) n.360C>A n.332C>A | |
16 | g.17138427C= | CA2210541975 | XYLT1 | c.1692G= (p.Gln564=) n.360C= n.332C= | |
16 | g.17138427C>G | CA394875264 | XYLT1 | c.1692G>C (p.Gln564His) n.360C>G n.332C>G | |
16 | g.17138427C>T | CA7927816 | XYLT1 | c.1692G>A (p.Gln564=) n.360C>T n.332C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.17138428_17138431dup | CA2210541974 | XYLT1 | c.1689_1692dup (p.Tyr565ProfsTer15) n.361_364dup n.333_336dup | |
16 | g.17138428T>A | CA394875266 | XYLT1 | c.1691A>T (p.Gln564Leu) n.361T>A n.333T>A | |
16 | g.17138428T>C | CA394875267 | XYLT1 | c.1691A>G (p.Gln564Arg) n.361T>C n.333T>C | |
16 | g.17138428T>G | CA394875268 | XYLT1 | c.1691A>C (p.Gln564Pro) n.361T>G n.333T>G | |
16 | g.17138429G>A | CA394875269 | XYLT1 | c.1690C>T (p.Gln564Ter) n.362G>A n.334G>A | |
16 | g.17138429G>C | CA394875270 | XYLT1 | c.1690C>G (p.Gln564Glu) n.362G>C n.334G>C | |
16 | g.17138429G= | CA2210541978 | XYLT1 | c.1690C= (p.Gln564=) n.362G= n.334G= | |
16 | g.17138429G>T | CA7927817 | XYLT1 | c.1690C>A (p.Gln564Lys) n.362G>T n.334G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.17138430G>A | CA7927818 | XYLT1 | c.1689C>T (p.Cys563=) n.363G>A n.335G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.17138430G>C | CA394875271 | XYLT1 | c.1689C>G (p.Cys563Trp) n.363G>C n.335G>C | |
16 | g.17138430G= | CA2210541980 | XYLT1 | c.1689C= (p.Cys563=) n.363G= n.335G= | |
16 | g.17138430G>T | CA394875272 | XYLT1 | c.1689C>A (p.Cys563Ter) n.363G>T n.335G>T | |
16 | g.17138431C>A | CA394875273 | XYLT1 | c.1688G>T (p.Cys563Phe) n.364C>A n.336C>A | |
16 | g.17138431C>G | CA394875274 | XYLT1 | c.1688G>C (p.Cys563Ser) n.364C>G n.336C>G | |
16 | g.17138431C>T | CA394875275 | XYLT1 | c.1688G>A (p.Cys563Tyr) n.364C>T n.336C>T | |
16 | g.17138432A>C | CA394875278 | XYLT1 | c.1687T>G (p.Cys563Gly) n.365A>C n.337A>C | |
16 | g.17138432A>G | CA394875277 | XYLT1 | c.1687T>C (p.Cys563Arg) n.365A>G n.337A>G | |
16 | g.17138432A>T | CA394875276 | XYLT1 | c.1687T>A (p.Cys563Ser) n.365A>T n.337A>T | |
16 | g.17138433C>A | CA394875279 | XYLT1 | c.1686G>T (p.Lys562Asn) n.366C>A n.338C>A | |
16 | g.17138433C= | CA2210541986 | XYLT1 | c.1686G= (p.Lys562=) n.366C= n.338C= | |
16 | g.17138433C>G | CA394875280 | XYLT1 | c.1686G>C (p.Lys562Asn) n.366C>G n.338C>G | |
16 | g.17138433C>T | CA7927819 | XYLT1 | c.1686G>A (p.Lys562=) n.366C>T n.338C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.17138434T>A | CA394875281 | XYLT1 | c.1685A>T (p.Lys562Met) n.367T>A n.339T>A | |
16 | g.17138434T>C | CA7927820 | XYLT1 | c.1685A>G (p.Lys562Arg) n.367T>C n.339T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.17138434T>G | CA394875282 | XYLT1 | c.1685A>C (p.Lys562Thr) n.367T>G n.339T>G | dbSNP |
16 | g.17138434T= | CA2210541989 | XYLT1 | c.1685A= (p.Lys562=) n.367T= n.339T= | |
16 | g.17138435T>A | CA394875283 | XYLT1 | c.1684A>T (p.Lys562Ter) n.368T>A n.340T>A | |
16 | g.17138435T>C | CA394875284 | XYLT1 | c.1684A>G (p.Lys562Glu) n.368T>C n.340T>C | |
16 | g.17138435T>G | CA394875285 | XYLT1 | c.1684A>C (p.Lys562Gln) n.368T>G n.340T>G | |
16 | g.17138436G>A | CA7927821 | XYLT1 | c.1683C>T (p.Cys561=) n.369G>A n.341G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.17138436G>C | CA394875286 | XYLT1 | c.1683C>G (p.Cys561Trp) n.369G>C n.341G>C | |
16 | g.17138436G= | CA2210541991 | XYLT1 | c.1683C= (p.Cys561=) n.369G= n.341G= | |
16 | g.17138436G>T | CA394875287 | XYLT1 | c.1683C>A (p.Cys561Ter) n.369G>T n.341G>T | |
16 | g.17138437C>A | CA394875290 | XYLT1 | c.1682G>T (p.Cys561Phe) n.370C>A n.342C>A | |
16 | g.17138437C= | CA2210541995 | XYLT1 | c.1682G= (p.Cys561=) n.370C= n.342C= | |
16 | g.17138437C>G | CA394875289 | XYLT1 | c.1682G>C (p.Cys561Ser) n.370C>G n.342C>G | |
16 | g.17138437C>T | CA394875288 | XYLT1 | c.1682G>A (p.Cys561Tyr) n.370C>T n.342C>T | dbSNP |
16 | g.17138438A>C | CA394875291 | XYLT1 | c.1681T>G (p.Cys561Gly) n.371A>C n.343A>C | gnomAD v4 |
16 | g.17138438A>G | CA394875292 | XYLT1 | c.1681T>C (p.Cys561Arg) n.371A>G n.343A>G | |
16 | g.17138438A>T | CA394875293 | XYLT1 | c.1681T>A (p.Cys561Ser) n.371A>T n.343A>T | |
16 | g.17138439G>A | CA493798097 | XYLT1 | c.1680C>T (p.Gly560=) n.372G>A n.344G>A | |
16 | g.17138439G>C | CA493798099 | XYLT1 | c.1680C>G (p.Gly560=) n.372G>C n.344G>C | |
16 | g.17138439G>T | CA493798100 | XYLT1 | c.1680C>A (p.Gly560=) n.372G>T n.344G>T | |
16 | g.17138440C>A | CA394875294 | XYLT1 | c.1679G>T (p.Gly560Val) n.373C>A n.345C>A | |
16 | g.17138440C>G | CA394875295 | XYLT1 | c.1679G>C (p.Gly560Ala) n.373C>G n.345C>G | |
16 | g.17138440C>T | CA394875296 | XYLT1 | c.1679G>A (p.Gly560Asp) n.373C>T n.345C>T | |
16 | g.17138441C>A | CA394875297 | XYLT1 | c.1678G>T (p.Gly560Cys) n.374C>A n.346C>A | |
16 | g.17138441C>G | CA394875298 | XYLT1 | c.1678G>C (p.Gly560Arg) n.374C>G n.346C>G | |
16 | g.17138441C>T | CA394875299 | XYLT1 | c.1678G>A (p.Gly560Ser) n.374C>T n.346C>T | |
16 | g.17138442C>A | CA493798103 | XYLT1 | c.1677G>T (p.Leu559=) n.375C>A n.347C>A | |
16 | g.17138442C= | CA2210541997 | XYLT1 | c.1677G= (p.Leu559=) n.375C= n.347C= | |
16 | g.17138442C>G | CA493798105 | XYLT1 | c.1677G>C (p.Leu559=) n.375C>G n.347C>G | |
16 | g.17138442C>T | CA278644513 | XYLT1 | c.1677G>A (p.Leu559=) n.375C>T n.347C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.17138445_17138471del | CA2631987553 | XYLT1 | c.1651_1677del (p.Arg551_Leu559del) n.378_404del n.350_376del | gnomAD v4 |
16 | g.17138443A>C | CA394875300 | XYLT1 | c.1676T>G (p.Leu559Arg) n.376A>C n.348A>C | |
16 | g.17138443A>G | CA394875301 | XYLT1 | c.1676T>C (p.Leu559Pro) n.376A>G n.348A>G | gnomAD v4 |
16 | g.17138443A>T | CA394875302 | XYLT1 | c.1676T>A (p.Leu559Gln) n.376A>T n.348A>T | |
16 | g.17138444G>A | CA493798110 | XYLT1 | c.1675C>T (p.Leu559=) n.377G>A n.349G>A | gnomAD v4 |
16 | g.17138444G>C | CA394875304 | XYLT1 | c.1675C>G (p.Leu559Val) n.377G>C n.349G>C | |
16 | g.17138444G>T | CA394875303 | XYLT1 | c.1675C>A (p.Leu559Met) n.377G>T n.349G>T | |
16 | g.17138445C>A | CA278644515 | XYLT1 | c.1674G>T (p.Lys558Asn) n.378C>A n.350C>A | dbSNP |
16 | g.17138445C= | CA2210541999 | XYLT1 | c.1674G= (p.Lys558=) n.378C= n.350C= | |
16 | g.17138445C>G | CA394875305 | XYLT1 | c.1674G>C (p.Lys558Asn) n.378C>G n.350C>G | |
16 | g.17138445C>T | CA493798113 | XYLT1 | c.1674G>A (p.Lys558=) n.378C>T n.350C>T | gnomAD v4 |
16 | g.17138446T>A | CA394875306 | XYLT1 | c.1673A>T (p.Lys558Met) n.379T>A n.351T>A | |
16 | g.17138446T>C | CA394875307 | XYLT1 | c.1673A>G (p.Lys558Arg) n.379T>C n.351T>C | |
16 | g.17138446T>G | CA394875308 | XYLT1 | c.1673A>C (p.Lys558Thr) n.379T>G n.351T>G | |
16 | g.17138447T>A | CA394875309 | XYLT1 | c.1672A>T (p.Lys558Ter) n.380T>A n.352T>A | |
16 | g.17138447T>C | CA278644517 | XYLT1 | c.1672A>G (p.Lys558Glu) n.380T>C n.352T>C | dbSNP |
16 | g.17138447T>G | CA394875310 | XYLT1 | c.1672A>C (p.Lys558Gln) n.380T>G n.352T>G | |
16 | g.17138447T= | CA2210542003 | XYLT1 | c.1672A= (p.Lys558=) n.380T= n.352T= | |
16 | g.17138448G>A | CA7927822 | XYLT1 | c.1671C>T (p.Arg557=) n.381G>A n.353G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.17138448G>C | CA493798120 | XYLT1 | c.1671C>G (p.Arg557=) n.381G>C n.353G>C | |
16 | g.17138448G= | CA2210542004 | XYLT1 | c.1671C= (p.Arg557=) n.381G= n.353G= | |
16 | g.17138448G>T | CA493798122 | XYLT1 | c.1671C>A (p.Arg557=) n.381G>T n.353G>T | |
16 | g.17138449C>A | CA394875311 | XYLT1 | c.1670G>T (p.Arg557Leu) n.382C>A n.354C>A | |
16 | g.17138449C= | CA2210542006 | XYLT1 | c.1670G= (p.Arg557=) n.382C= n.354C= | |
16 | g.17138449C>G | CA394875312 | XYLT1 | c.1670G>C (p.Arg557Pro) n.382C>G n.354C>G | |
16 | g.17138449C>T | CA7927823 | XYLT1 | c.1670G>A (p.Arg557His) n.382C>T n.354C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.17138450G>A | CA394875313 | XYLT1 | c.1669C>T (p.Arg557Cys) n.383G>A n.355G>A | ClinVar dbSNP gnomAD v4 |
16 | g.17138450G>C | CA394875314 | XYLT1 | c.1669C>G (p.Arg557Gly) n.383G>C n.355G>C | |
16 | g.17138450G>T | CA394875315 | XYLT1 | c.1669C>A (p.Arg557Ser) n.383G>T n.355G>T | |
16 | g.17138453_17138465del | CA621656093 | XYLT1 | c.1657_1669del (p.Thr553AlafsTer?) n.386_398del n.358_370del | gnomAD v2 gnomAD v4 |
16 | g.17138451A>C | CA394875316 | XYLT1 | c.1668T>G (p.Asn556Lys) n.384A>C n.356A>C | |
16 | g.17138451A>G | CA493798130 | XYLT1 | c.1668T>C (p.Asn556=) n.384A>G n.356A>G | |
16 | g.17138451A>T | CA394875317 | XYLT1 | c.1668T>A (p.Asn556Lys) n.384A>T n.356A>T | |
16 | g.17138452T>A | CA394875318 | XYLT1 | c.1667A>T (p.Asn556Ile) n.385T>A n.357T>A | |
16 | g.17138452T>C | CA394875319 | XYLT1 | c.1667A>G (p.Asn556Ser) n.385T>C n.357T>C | |
16 | g.17138452T>G | CA394875320 | XYLT1 | c.1667A>C (p.Asn556Thr) n.385T>G n.357T>G | |
16 | g.17138452_17138487dup | CA2631987554 | XYLT1 | c.1632_1667dup (p.Asn556_Arg557insMetValAspAsnAsnLeuArgIleThrAsnTrpAsn) n.385_420dup n.357_392dup | gnomAD v4 |
16 | g.17138453T>A | CA394875321 | XYLT1 | c.1666A>T (p.Asn556Tyr) n.386T>A n.358T>A | |
16 | g.17138453T>C | CA394875322 | XYLT1 | c.1666A>G (p.Asn556Asp) n.386T>C n.358T>C | |
16 | g.17138453T>G | CA394875323 | XYLT1 | c.1666A>C (p.Asn556His) n.386T>G n.358T>G | |
16 | g.17138454C>A | CA394875324 | XYLT1 | c.1665G>T (p.Trp555Cys) n.387C>A n.359C>A | |
16 | g.17138454C>G | CA394875325 | XYLT1 | c.1665G>C (p.Trp555Cys) n.387C>G n.359C>G | |
16 | g.17138454C>T | CA394875326 | XYLT1 | c.1665G>A (p.Trp555Ter) n.387C>T n.359C>T | |
16 | g.17138455C>A | CA394875327 | XYLT1 | c.1664G>T (p.Trp555Leu) n.388C>A n.360C>A | |
16 | g.17138455C>G | CA394875328 | XYLT1 | c.1664G>C (p.Trp555Ser) n.388C>G n.360C>G | |
16 | g.17138455C>T | CA394875329 | XYLT1 | c.1664G>A (p.Trp555Ter) n.388C>T n.360C>T | |
16 | g.17138456A>C | CA394875331 | XYLT1 | c.1663T>G (p.Trp555Gly) n.389A>C n.361A>C | |
16 | g.17138456A>G | CA394875332 | XYLT1 | c.1663T>C (p.Trp555Arg) n.389A>G n.361A>G | |
16 | g.17138456A>T | CA394875330 | XYLT1 | c.1663T>A (p.Trp555Arg) n.389A>T n.361A>T | |
16 | g.17138457G>A | CA493798136 | XYLT1 | c.1662C>T (p.Asn554=) n.390G>A n.362G>A | |
16 | g.17138457G>C | CA394875333 | XYLT1 | c.1662C>G (p.Asn554Lys) n.390G>C n.362G>C | |
16 | g.17138457G>T | CA394875334 | XYLT1 | c.1662C>A (p.Asn554Lys) n.390G>T n.362G>T | |
16 | g.17138458T>A | CA394875335 | XYLT1 | c.1661A>T (p.Asn554Ile) n.391T>A n.363T>A | |
16 | g.17138458T>C | CA394875336 | XYLT1 | c.1661A>G (p.Asn554Ser) n.391T>C n.363T>C | gnomAD v4 |
16 | g.17138458T>G | CA394875337 | XYLT1 | c.1661A>C (p.Asn554Thr) n.391T>G n.363T>G | |
16 | g.17138459T>A | CA394875340 | XYLT1 | c.1660A>T (p.Asn554Tyr) n.392T>A n.364T>A | |
16 | g.17138459T>C | CA394875339 | XYLT1 | c.1660A>G (p.Asn554Asp) n.392T>C n.364T>C | dbSNP |
16 | g.17138459T>G | CA394875338 | XYLT1 | c.1660A>C (p.Asn554His) n.392T>G n.364T>G | |
16 | g.17138459T= | CA2210542011 | XYLT1 | c.1660A= (p.Asn554=) n.392T= n.364T= | |
16 | g.17138460G>A | CA7927824 | XYLT1 | c.1659C>T (p.Thr553=) n.393G>A n.365G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.17138460G>C | CA7927826 | XYLT1 | c.1659C>G (p.Thr553=) n.393G>C n.365G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.17138460G= | CA2210542015 | XYLT1 | c.1659C= (p.Thr553=) n.393G= n.365G= | |
16 | g.17138460G>T | CA7927825 | XYLT1 | c.1659C>A (p.Thr553=) n.393G>T n.365G>T | dbSNP ExAC gnomAD v2 |
16 | g.17138461G>A | CA394875341 | XYLT1 | c.1658C>T (p.Thr553Ile) n.394G>A n.366G>A | |
16 | g.17138461G>C | CA394875342 | XYLT1 | c.1658C>G (p.Thr553Ser) n.394G>C n.366G>C | |
16 | g.17138461G>T | CA394875343 | XYLT1 | c.1658C>A (p.Thr553Asn) n.394G>T n.366G>T | |
16 | g.17138462T>A | CA394875344 | XYLT1 | c.1657A>T (p.Thr553Ser) n.395T>A n.367T>A | |
16 | g.17138462T>C | CA394875346 | XYLT1 | c.1657A>G (p.Thr553Ala) n.395T>C n.367T>C | gnomAD v4 |
16 | g.17138462T>G | CA394875345 | XYLT1 | c.1657A>C (p.Thr553Pro) n.395T>G n.367T>G | gnomAD v4 |
16 | g.17138463G>A | CA493798144 | XYLT1 | c.1656C>T (p.Ile552=) n.396G>A n.368G>A | gnomAD v4 |
16 | g.17138463G>C | CA394875347 | XYLT1 | c.1656C>G (p.Ile552Met) n.396G>C n.368G>C | |
16 | g.17138463G>T | CA493798148 | XYLT1 | c.1656C>A (p.Ile552=) n.396G>T n.368G>T | |
16 | g.17138464A= | CA2210542017 | XYLT1 | c.1655T= (p.Ile552=) n.397A= n.369A= | |
16 | g.17138464A>C | CA394875348 | XYLT1 | c.1655T>G (p.Ile552Ser) n.397A>C n.369A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.17138464A>G | CA394875349 | XYLT1 | c.1655T>C (p.Ile552Thr) n.397A>G n.369A>G | |
16 | g.17138464A>T | CA394875350 | XYLT1 | c.1655T>A (p.Ile552Asn) n.397A>T n.369A>T | gnomAD v4 |
16 | g.17138465T>A | CA394875351 | XYLT1 | c.1654A>T (p.Ile552Phe) n.398T>A n.370T>A | |
16 | g.17138465T>C | CA394875352 | XYLT1 | c.1654A>G (p.Ile552Val) n.398T>C n.370T>C | |
16 | g.17138465T>G | CA394875353 | XYLT1 | c.1654A>C (p.Ile552Leu) n.398T>G n.370T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.17138465T= | CA2210542019 | XYLT1 | c.1654A= (p.Ile552=) n.398T= n.370T= | |
16 | g.17138466G>A | CA493798150 | XYLT1 | c.1653C>T (p.Arg551=) n.399G>A n.371G>A | gnomAD v4 |
16 | g.17138466G>C | CA493798152 | XYLT1 | c.1653C>G (p.Arg551=) n.399G>C n.371G>C | |
16 | g.17138466G= | CA2210542023 | XYLT1 | c.1653C= (p.Arg551=) n.399G= n.371G= | |
16 | g.17138466G>T | CA493798153 | XYLT1 | c.1653C>A (p.Arg551=) n.399G>T n.371G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.17138467C>A | CA394875354 | XYLT1 | c.1652G>T (p.Arg551Leu) n.400C>A n.372C>A | COSMIC |
16 | g.17138467C= | CA2210542025 | XYLT1 | c.1652G= (p.Arg551=) n.400C= n.372C= | |
16 | g.17138467C>G | CA394875355 | XYLT1 | c.1652G>C (p.Arg551Pro) n.400C>G n.372C>G | |
16 | g.17138467C>T | CA7927827 | XYLT1 | c.1652G>A (p.Arg551His) n.400C>T n.372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.17138468G>A | CA7927828 | XYLT1 | c.1651C>T (p.Arg551Cys) n.401G>A n.373G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.17138468G>C | CA394875356 | XYLT1 | c.1651C>G (p.Arg551Gly) n.401G>C n.373G>C | dbSNP gnomAD v4 |
16 | g.17138468G= | CA2210542028 | XYLT1 | c.1651C= (p.Arg551=) n.401G= n.373G= | |
16 | g.17138468G>T | CA394875357 | XYLT1 | c.1651C>A (p.Arg551Ser) n.401G>T n.373G>T | |
16 | g.17138468_17138475dup | CA2631987555 | XYLT1 | c.1644_1651dup (p.Arg551ProfsTer?) n.401_408dup n.373_380dup | gnomAD v4 |
16 | g.17138468_17138476dup | CA2631987556 | XYLT1 | c.1643_1651dup (p.Leu550_Arg551insHisAsnLeu) n.401_409dup n.373_381dup | gnomAD v4 |
16 | g.17138469C>A | CA493798157 | XYLT1 | c.1650G>T (p.Leu550=) n.402C>A n.374C>A | |
16 | g.17138469C= | CA2210542030 | XYLT1 | c.1650G= (p.Leu550=) n.402C= n.374C= | |
16 | g.17138469C>G | CA493798159 | XYLT1 | c.1650G>C (p.Leu550=) n.402C>G n.374C>G | |
16 | g.17138469C>T | CA493798158 | XYLT1 | c.1650G>A (p.Leu550=) n.402C>T n.374C>T | dbSNP |
16 | g.17138470A>C | CA394875359 | XYLT1 | c.1649T>G (p.Leu550Arg) n.403A>C n.375A>C | |
16 | g.17138470A>G | CA394875360 | XYLT1 | c.1649T>C (p.Leu550Pro) n.403A>G n.375A>G | |
16 | g.17138470A>T | CA394875358 | XYLT1 | c.1649T>A (p.Leu550Gln) n.403A>T n.375A>T | gnomAD v4 |
16 | g.17138471G>A | CA493798161 | XYLT1 | c.1648C>T (p.Leu550=) n.404G>A n.376G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.17138471G>C | CA394875361 | XYLT1 | c.1648C>G (p.Leu550Val) n.404G>C n.376G>C | |
16 | g.17138471G= | CA2210542032 | XYLT1 | c.1648C= (p.Leu550=) n.404G= n.376G= | |
16 | g.17138471G>T | CA394875362 | XYLT1 | c.1648C>A (p.Leu550Met) n.404G>T n.376G>T | |
16 | g.17138471_17138474delinsGGTT | CA2210542033 | XYLT1 | c.1645_1648delinsAACC (p.Asn549=) n.404_407delinsGGTT n.376_379delinsGGTT | |
16 | g.17138472G>A | CA493798165 | XYLT1 | c.1647C>T (p.Asn549=) n.405G>A n.377G>A | |
16 | g.17138472G>C | CA394875363 | XYLT1 | c.1647C>G (p.Asn549Lys) n.405G>C n.377G>C | |
16 | g.17138472G>T | CA394875364 | XYLT1 | c.1647C>A (p.Asn549Lys) n.405G>T n.377G>T | |
16 | g.17138477_17138479dup | CA718616740 | XYLT1 | c.1645_1647dup (p.Asn549_Leu550insAsn) n.410_412dup n.382_384dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.17138477_17138479del | CA7927829 | XYLT1 | c.1645_1647del (p.Asn549del) n.410_412del n.382_384del | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.17138473T>A | CA394875365 | XYLT1 | c.1646A>T (p.Asn549Ile) n.406T>A n.378T>A | |
16 | g.17138473T>C | CA394875366 | XYLT1 | c.1646A>G (p.Asn549Ser) n.406T>C n.378T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.17138473T>G | CA394875367 | XYLT1 | c.1646A>C (p.Asn549Thr) n.406T>G n.378T>G | |
16 | g.17138473T= | CA2210542039 | XYLT1 | c.1646A= (p.Asn549=) n.406T= n.378T= | |
16 | g.17138474T>A | CA394875368 | XYLT1 | c.1645A>T (p.Asn549Tyr) n.407T>A n.379T>A | gnomAD v4 |
16 | g.17138474T>C | CA394875369 | XYLT1 | c.1645A>G (p.Asn549Asp) n.407T>C n.379T>C | |
16 | g.17138474T>G | CA394875370 | XYLT1 | c.1645A>C (p.Asn549His) n.407T>G n.379T>G | |
16 | g.17138475G>A | CA493798170 | XYLT1 | c.1644C>T (p.Asn548=) n.408G>A n.380G>A | |
16 | g.17138475G>C | CA394875371 | XYLT1 | c.1644C>G (p.Asn548Lys) n.408G>C n.380G>C | |
16 | g.17138475G>T | CA394875372 | XYLT1 | c.1644C>A (p.Asn548Lys) n.408G>T n.380G>T | |
16 | g.17138476T>A | CA394875373 | XYLT1 | c.1643A>T (p.Asn548Ile) n.409T>A n.381T>A | |
16 | g.17138476T>C | CA394875374 | XYLT1 | c.1643A>G (p.Asn548Ser) n.409T>C n.381T>C | |
16 | g.17138476T>G | CA394875375 | XYLT1 | c.1643A>C (p.Asn548Thr) n.409T>G n.381T>G | |
16 | g.17138477T>A | CA394875378 | XYLT1 | c.1642A>T (p.Asn548Tyr) n.410T>A n.382T>A | |
16 | g.17138477T>C | CA394875377 | XYLT1 | c.1642A>G (p.Asn548Asp) n.410T>C n.382T>C | |
16 | g.17138477T>G | CA394875376 | XYLT1 | c.1642A>C (p.Asn548His) n.410T>G n.382T>G | |
16 | g.17138478G>A | CA493798176 | XYLT1 | c.1641C>T (p.Asp547=) n.411G>A n.383G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.17138478G>C | CA394875379 | XYLT1 | c.1641C>G (p.Asp547Glu) n.411G>C n.383G>C | |
16 | g.17138478G= | CA2210542042 | XYLT1 | c.1641C= (p.Asp547=) n.411G= n.383G= | |
16 | g.17138478G>T | CA394875380 | XYLT1 | c.1641C>A (p.Asp547Glu) n.411G>T n.383G>T | |
16 | g.17138479T>A | CA394875381 | XYLT1 | c.1640A>T (p.Asp547Val) n.412T>A n.384T>A | |
16 | g.17138479T>C | CA394875383 | XYLT1 | c.1640A>G (p.Asp547Gly) n.412T>C n.384T>C | |
16 | g.17138479T>G | CA394875384 | XYLT1 | c.1640A>C (p.Asp547Ala) n.412T>G n.384T>G | |
16 | g.17138480C>A | CA394875386 | XYLT1 | c.1639G>T (p.Asp547Tyr) n.413C>A n.385C>A | COSMIC |
16 | g.17138480C>G | CA394875387 | XYLT1 | c.1639G>C (p.Asp547His) n.413C>G n.385C>G | |
16 | g.17138480C>T | CA394875388 | XYLT1 | c.1639G>A (p.Asp547Asn) n.413C>T n.385C>T | |
16 | g.17138481C>A | CA493798178 | XYLT1 | c.1638G>T (p.Val546=) n.414C>A n.386C>A | |
16 | g.17138481C= | CA2210542043 | XYLT1 | c.1638G= (p.Val546=) n.414C= n.386C= | |
16 | g.17138481C>G | CA493798179 | XYLT1 | c.1638G>C (p.Val546=) n.414C>G n.386C>G | |
16 | g.17138481C>T | CA493798180 | XYLT1 | c.1638G>A (p.Val546=) n.414C>T n.386C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.17138482A>C | CA394875389 | XYLT1 | c.1637T>G (p.Val546Gly) n.415A>C n.387A>C | |
16 | g.17138482A>G | CA394875390 | XYLT1 | c.1637T>C (p.Val546Ala) n.415A>G n.387A>G | gnomAD v4 |
16 | g.17138482A>T | CA394875391 | XYLT1 | c.1637T>A (p.Val546Glu) n.415A>T n.387A>T | |
16 | g.17138483C>A | CA394875393 | XYLT1 | c.1636G>T (p.Val546Leu) n.416C>A n.388C>A | |
16 | g.17138483C>G | CA394875394 | XYLT1 | c.1636G>C (p.Val546Leu) n.416C>G n.388C>G | |
16 | g.17138483C>T | CA394875396 | XYLT1 | c.1636G>A (p.Val546Met) n.416C>T n.388C>T | |
16 | g.17138484C>A | CA394875399 | XYLT1 | c.1635G>T (p.Met545Ile) n.417C>A n.389C>A | |
16 | g.17138484C>G | CA394875400 | XYLT1 | c.1635G>C (p.Met545Ile) n.417C>G n.389C>G | |
16 | g.17138484C>T | CA394875397 | XYLT1 | c.1635G>A (p.Met545Ile) n.417C>T n.389C>T | |
16 | g.17138485A= | CA2210542046 | XYLT1 | c.1634T= (p.Met545=) n.418A= n.390A= | |
16 | g.17138485A>C | CA394875401 | XYLT1 | c.1634T>G (p.Met545Arg) n.418A>C n.390A>C | |
16 | g.17138485A>G | CA278644583 | XYLT1 | c.1634T>C (p.Met545Thr) n.418A>G n.390A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.17138485A>T | CA394875404 | XYLT1 | c.1634T>A (p.Met545Lys) n.418A>T n.390A>T | |
16 | g.17138486T>A | CA394875405 | XYLT1 | c.1633A>T (p.Met545Leu) n.419T>A n.391T>A | |
16 | g.17138486T>C | CA7927830 | XYLT1 | c.1633A>G (p.Met545Val) n.419T>C n.391T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.17138486T>G | CA394875407 | XYLT1 | c.1633A>C (p.Met545Leu) n.419T>G n.391T>G | |
16 | g.17138486T= | CA2210542052 | XYLT1 | c.1633A= (p.Met545=) n.419T= n.391T= | |
16 | g.17138487G>A | CA493798183 | XYLT1 | c.1632C>T (p.Thr544=) n.420G>A n.392G>A | |
16 | g.17138487G>C | CA493798186 | XYLT1 | c.1632C>G (p.Thr544=) n.420G>C n.392G>C | |
16 | g.17138487G>T | CA493798188 | XYLT1 | c.1632C>A (p.Thr544=) n.420G>T n.392G>T | |
16 | g.17138488G>A | CA394875409 | XYLT1 | c.1631C>T (p.Thr544Ile) n.421G>A n.393G>A | |
16 | g.17138488G>C | CA7927831 | XYLT1 | c.1631C>G (p.Thr544Ser) n.421G>C n.393G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.17138488G= | CA2210542053 | XYLT1 | c.1631C= (p.Thr544=) n.421G= n.393G= | |
16 | g.17138488G>T | CA394875410 | XYLT1 | c.1631C>A (p.Thr544Asn) n.421G>T n.393G>T | |
16 | g.17138489T>A | CA394875411 | XYLT1 | c.1630A>T (p.Thr544Ser) n.422T>A n.394T>A | |
16 | g.17138489T>C | CA394875413 | XYLT1 | c.1630A>G (p.Thr544Ala) n.422T>C n.394T>C | |
16 | g.17138489T>G | CA394875414 | XYLT1 | c.1630A>C (p.Thr544Pro) n.422T>G n.394T>G | |
16 | g.17138490G>A | CA7927832 | XYLT1 | c.1629C>T (p.Asp543=) n.423G>A n.395G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.17138490G>C | CA394875418 | XYLT1 | c.1629C>G (p.Asp543Glu) n.423G>C n.395G>C | |
16 | g.17138490G= | CA2210542055 | XYLT1 | c.1629C= (p.Asp543=) n.423G= n.395G= | |
16 | g.17138490G>T | CA394875416 | XYLT1 | c.1629C>A (p.Asp543Glu) n.423G>T n.395G>T | gnomAD v4 |
16 | g.17138491T>A | CA394875420 | XYLT1 | c.1628A>T (p.Asp543Val) n.424T>A n.396T>A | |
16 | g.17138491T>C | CA394875421 | XYLT1 | c.1628A>G (p.Asp543Gly) n.424T>C n.396T>C | |
16 | g.17138491T>G | CA394875422 | XYLT1 | c.1628A>C (p.Asp543Ala) n.424T>G n.396T>G | |
16 | g.17138492C>A | CA394875424 | XYLT1 | c.1627G>T (p.Asp543Tyr) n.425C>A n.397C>A | |
16 | g.17138492C= | CA2210542058 | XYLT1 | c.1627G= (p.Asp543=) n.425C= n.397C= | |
16 | g.17138492C>G | CA394875426 | XYLT1 | c.1627G>C (p.Asp543His) n.425C>G n.397C>G | |
16 | g.17138492C>T | CA7927833 | XYLT1 | c.1627G>A (p.Asp543Asn) n.425C>T n.397C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.17138493G>A | CA7927834 | XYLT1 | c.1626C>T (p.Cys542=) n.426G>A n.398G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.17138493G>C | CA394875429 | XYLT1 | c.1626C>G (p.Cys542Trp) n.426G>C n.398G>C | dbSNP |
16 | g.17138493G= | CA2210542060 | XYLT1 | c.1626C= (p.Cys542=) n.426G= n.398G= | |
16 | g.17138493G>T | CA394875430 | XYLT1 | c.1626C>A (p.Cys542Ter) n.426G>T n.398G>T | gnomAD v4 |
16 | g.17138494C>A | CA394875432 | XYLT1 | c.1625G>T (p.Cys542Phe) n.427C>A n.399C>A | |
16 | g.17138494C>G | CA394875433 | XYLT1 | c.1625G>C (p.Cys542Ser) n.427C>G n.399C>G | |
16 | g.17138494C>T | CA394875435 | XYLT1 | c.1625G>A (p.Cys542Tyr) n.427C>T n.399C>T | gnomAD v4 |
16 | g.17138495A>C | CA394875436 | XYLT1 | c.1624T>G (p.Cys542Gly) n.428A>C n.400A>C | |
16 | g.17138495A>G | CA394875440 | XYLT1 | c.1624T>C (p.Cys542Arg) n.428A>G n.400A>G | |
16 | g.17138495A>T | CA394875438 | XYLT1 | c.1624T>A (p.Cys542Ser) n.428A>T n.400A>T | |
16 | g.17138496G>A | CA493798198 | XYLT1 | c.1623C>T (p.His541=) n.429G>A n.401G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.17138496G>C | CA394875441 | XYLT1 | c.1623C>G (p.His541Gln) n.429G>C n.401G>C | |
16 | g.17138496G= | CA2210542062 | XYLT1 | c.1623C= (p.His541=) n.429G= n.401G= | |
16 | g.17138496G>T | CA394875442 | XYLT1 | c.1623C>A (p.His541Gln) n.429G>T n.401G>T | gnomAD v4 |
16 | g.17138497T>A | CA394875444 | XYLT1 | c.1622A>T (p.His541Leu) n.430T>A n.402T>A | gnomAD v4 |
16 | g.17138497T>C | CA394875446 | XYLT1 | c.1622A>G (p.His541Arg) n.430T>C n.402T>C | gnomAD v4 |
16 | g.17138497T>G | CA394875448 | XYLT1 | c.1622A>C (p.His541Pro) n.430T>G n.402T>G | gnomAD v4 |
16 | g.17138498G>A | CA7927836 | XYLT1 | c.1621C>T (p.His541Tyr) n.431G>A n.403G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.17138498G>C | CA394875450 | XYLT1 | c.1621C>G (p.His541Asp) n.431G>C n.403G>C | |
16 | g.17138498G= | CA2210542123 | XYLT1 | c.1621C= (p.His541=) n.431G= n.403G= | |
16 | g.17138498G>T | CA7927835 | XYLT1 | c.1621C>A (p.His541Asn) n.431G>T n.403G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.17138499G>A | CA493798202 | XYLT1 | c.1620C>T (p.Pro540=) n.432G>A n.404G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.17138499G>C | CA493798204 | XYLT1 | c.1620C>G (p.Pro540=) n.432G>C n.404G>C | |
16 | g.17138499G= | CA2210542126 | XYLT1 | c.1620C= (p.Pro540=) n.432G= n.404G= | |
16 | g.17138499G>T | CA493798203 | XYLT1 | c.1620C>A (p.Pro540=) n.432G>T n.404G>T | |
16 | g.17138499_17138500insCA | CA2210542131 | XYLT1 | c.1619_1620insTG (p.His541AlafsTer?) n.432_433insCA n.404_405insCA | dbSNP |
16 | g.17138500G>A | CA394875453 | XYLT1 | c.1619C>T (p.Pro540Leu) n.433G>A n.405G>A | |
16 | g.17138500G>C | CA394875454 | XYLT1 | c.1619C>G (p.Pro540Arg) n.433G>C n.405G>C | dbSNP gnomAD v4 |
16 | g.17138500G= | CA2210542129 | XYLT1 | c.1619C= (p.Pro540=) n.433G= n.405G= | |
16 | g.17138500G>T | CA394875455 | XYLT1 | c.1619C>A (p.Pro540His) n.433G>T n.405G>T | |
16 | g.17138501G>A | CA394875458 | XYLT1 | c.1618C>T (p.Pro540Ser) n.434G>A n.406G>A | |
16 | g.17138501G>C | CA394875460 | XYLT1 | c.1618C>G (p.Pro540Ala) n.434G>C n.406G>C | dbSNP |
16 | g.17138501G= | CA2210542133 | XYLT1 | c.1618C= (p.Pro540=) n.434G= n.406G= | |
16 | g.17138501G>T | CA394875461 | XYLT1 | c.1618C>A (p.Pro540Thr) n.434G>T n.406G>T | |
16 | g.17138502G>A | CA493798205 | XYLT1 | c.1617C>T (p.Ser539=) n.435G>A n.407G>A | |
16 | g.17138502G>C | CA394875462 | XYLT1 | c.1617C>G (p.Ser539Arg) n.435G>C n.407G>C | |
16 | g.17138502G>T | CA394875464 | XYLT1 | c.1617C>A (p.Ser539Arg) n.435G>T n.407G>T | |
16 | g.17138503C>A | CA394875466 | XYLT1 | c.1616G>T (p.Ser539Ile) n.436C>A n.408C>A | |
16 | g.17138503C>G | CA394875467 | XYLT1 | c.1616G>C (p.Ser539Thr) n.436C>G n.408C>G | |
16 | g.17138503C>T | CA394875469 | XYLT1 | c.1616G>A (p.Ser539Asn) n.436C>T n.408C>T | |
16 | g.17138505_17138564dup | CA2631987557 | XYLT1 | c.1588-31_1616dup n.438_497dup n.410_469dup | gnomAD v4 |
16 | g.17138504T>A | CA394875471 | XYLT1 | c.1615A>T (p.Ser539Cys) n.437T>A n.409T>A | |
16 | g.17138504T>C | CA7927837 | XYLT1 | c.1615A>G (p.Ser539Gly) n.437T>C n.409T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.17138504T>G | CA394875473 | XYLT1 | c.1615A>C (p.Ser539Arg) n.437T>G n.409T>G | |
16 | g.17138504T= | CA2210542135 | XYLT1 | c.1615A= (p.Ser539=) n.437T= n.409T= | |
16 | g.17138505G>A | CA493798206 | XYLT1 | c.1614C>T (p.Asn538=) n.438G>A n.410G>A | dbSNP gnomAD v4 |
16 | g.17138505G>C | CA394875474 | XYLT1 | c.1614C>G (p.Asn538Lys) n.438G>C n.410G>C | |
16 | g.17138505G>T | CA394875476 | XYLT1 | c.1614C>A (p.Asn538Lys) n.438G>T n.410G>T | COSMIC |
16 | g.17138506T>A | CA394875478 | XYLT1 | c.1613A>T (p.Asn538Ile) n.439T>A n.411T>A | |
16 | g.17138506T>C | CA394875479 | XYLT1 | c.1613A>G (p.Asn538Ser) n.439T>C n.411T>C | |
16 | g.17138506T>G | CA394875481 | XYLT1 | c.1613A>C (p.Asn538Thr) n.439T>G n.411T>G | |
16 | g.17138506_17138525dup | CA2631987558 | XYLT1 | c.1594_1613dup (p.Pro540IlefsTer?) n.439_458dup n.411_430dup | gnomAD v4 |
16 | g.17138507T>A | CA394875485 | XYLT1 | c.1612A>T (p.Asn538Tyr) n.440T>A n.412T>A | |
16 | g.17138507T>C | CA394875486 | XYLT1 | c.1612A>G (p.Asn538Asp) n.440T>C n.412T>C | |
16 | g.17138507T>G | CA394875483 | XYLT1 | c.1612A>C (p.Asn538His) n.440T>G n.412T>G | |
16 | g.17138508C>A | CA394875487 | XYLT1 | c.1611G>T (p.Glu537Asp) n.441C>A n.413C>A | |
16 | g.17138508C>G | CA394875489 | XYLT1 | c.1611G>C (p.Glu537Asp) n.441C>G n.413C>G | |
16 | g.17138508C>T | CA493798207 | XYLT1 | c.1611G>A (p.Glu537=) n.441C>T n.413C>T | gnomAD v4 |
16 | g.17138509T>A | CA394875491 | XYLT1 | c.1610A>T (p.Glu537Val) n.442T>A n.414T>A | |
16 | g.17138509T>C | CA394875493 | XYLT1 | c.1610A>G (p.Glu537Gly) n.442T>C n.414T>C | gnomAD v4 |
16 | g.17138509T>G | CA394875495 | XYLT1 | c.1610A>C (p.Glu537Ala) n.442T>G n.414T>G | |
16 | g.17138509_17138525delinsTCCAGGACCGTATGGAA | CA2210542139 | XYLT1 | c.1594_1610delinsTTCCATACGGTCCTGGA (p.Phe532=) n.442_458delinsTCCAGGACCGTATGGAA n.414_430delinsTCCAGGACCGTATGGAA | |
16 | g.17138510C>A | CA394875496 | XYLT1 | c.1609G>T (p.Glu537Ter) n.443C>A n.415C>A | |
16 | g.17138510C>G | CA394875498 | XYLT1 | c.1609G>C (p.Glu537Gln) n.443C>G n.415C>G | |
16 | g.17138510C>T | CA394875499 | XYLT1 | c.1609G>A (p.Glu537Lys) n.443C>T n.415C>T | |
16 | g.17138511del | CA2841411109 | XYLT1 | c.1609del (p.Glu537ArgfsTer?) n.444del n.416del | |
16 | g.17138510_17138525del | CA7927838 | XYLT1 | c.1594_1609del (p.Phe532ArgfsTer?) n.443_458del n.415_430del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.17138511C>A | CA493798209 | XYLT1 | c.1608G>T (p.Leu536=) n.444C>A n.416C>A | dbSNP gnomAD v2 |
16 | g.17138511C= | CA2210542145 | XYLT1 | c.1608G= (p.Leu536=) n.444C= n.416C= | |
16 | g.17138511C>G | CA493798208 | XYLT1 | c.1608G>C (p.Leu536=) n.444C>G n.416C>G | |
16 | g.17138511C>T | CA7927839 | XYLT1 | c.1608G>A (p.Leu536=) n.444C>T n.416C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.17138511_17138527delinsCAGGACCGTATGGAAGA | CA2210542143 | XYLT1 | c.1592_1608delinsTCTTCCATACGGTCCTG (p.Phe531=) n.444_460delinsCAGGACCGTATGGAAGA n.416_432delinsCAGGACCGTATGGAAGA | |
16 | g.17138512A>C | CA394875501 | XYLT1 | c.1607T>G (p.Leu536Arg) n.445A>C n.417A>C | |
16 | g.17138512A>G | CA394875503 | XYLT1 | c.1607T>C (p.Leu536Pro) n.445A>G n.417A>G | |
16 | g.17138512A>T | CA394875504 | XYLT1 | c.1607T>A (p.Leu536Gln) n.445A>T n.417A>T | |
16 | g.17138517_17138532del | CA718616839 | XYLT1 | c.1592_1607del n.450_465del n.422_437del | dbSNP gnomAD v4 |
16 | g.17138513G>A | CA493798210 | XYLT1 | c.1606C>T (p.Leu536=) n.446G>A n.418G>A | ClinVar COSMIC |
16 | g.17138513G>C | CA394875506 | XYLT1 | c.1606C>G (p.Leu536Val) n.446G>C n.418G>C | |
16 | g.17138513G>T | CA394875507 | XYLT1 | c.1606C>A (p.Leu536Met) n.446G>T n.418G>T | |
16 | g.17138514G>A | CA493798211 | XYLT1 | c.1605C>T (p.Val535=) n.447G>A n.419G>A | gnomAD v4 |
16 | g.17138514G>C | CA493798212 | XYLT1 | c.1605C>G (p.Val535=) n.447G>C n.419G>C | |
16 | g.17138514G>T | CA493798213 | XYLT1 | c.1605C>A (p.Val535=) n.447G>T n.419G>T | |
16 | g.17138515A>C | CA394875510 | XYLT1 | c.1604T>G (p.Val535Gly) n.448A>C n.420A>C | gnomAD v4 |
16 | g.17138515A>G | CA394875511 | XYLT1 | c.1604T>C (p.Val535Ala) n.448A>G n.420A>G | |
16 | g.17138515A>T | CA394875512 | XYLT1 | c.1604T>A (p.Val535Asp) n.448A>T n.420A>T | |
16 | g.17138516C>A | CA394875513 | XYLT1 | c.1603G>T (p.Val535Phe) n.449C>A n.421C>A | |
16 | g.17138516C>G | CA394875514 | XYLT1 | c.1603G>C (p.Val535Leu) n.449C>G n.421C>G | |
16 | g.17138516C>T | CA394875515 | XYLT1 | c.1603G>A (p.Val535Ile) n.449C>T n.421C>T | |
16 | g.17138517C>A | CA493798214 | XYLT1 | c.1602G>T (p.Thr534=) n.450C>A n.422C>A | gnomAD v4 |
16 | g.17138517C= | CA2210542152 | XYLT1 | c.1602G= (p.Thr534=) n.450C= n.422C= | |
16 | g.17138517C>G | CA493798215 | XYLT1 | c.1602G>C (p.Thr534=) n.450C>G n.422C>G | gnomAD v4 |
16 | g.17138517C>T | CA7927840 | XYLT1 | c.1602G>A (p.Thr534=) n.450C>T n.422C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.17138518G>A | CA7927841 | XYLT1 | c.1601C>T (p.Thr534Met) n.451G>A n.423G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.17138518G>C | CA394875518 | XYLT1 | c.1601C>G (p.Thr534Arg) n.451G>C n.423G>C | |
16 | g.17138518G= | CA2210542157 | XYLT1 | c.1601C= (p.Thr534=) n.451G= n.423G= | |
16 | g.17138518G>T | CA394875519 | XYLT1 | c.1601C>A (p.Thr534Lys) n.451G>T n.423G>T | |
16 | g.17138519T>A | CA394875521 | XYLT1 | c.1600A>T (p.Thr534Ser) n.452T>A n.424T>A | |
16 | g.17138519T>C | CA394875523 | XYLT1 | c.1600A>G (p.Thr534Ala) n.452T>C n.424T>C | |
16 | g.17138519T>G | CA394875525 | XYLT1 | c.1600A>C (p.Thr534Pro) n.452T>G n.424T>G | |
16 | g.17138520A= | CA2210542160 | XYLT1 | c.1599T= (p.His533=) n.453A= n.425A= | |
16 | g.17138520A>C | CA394875527 | XYLT1 | c.1599T>G (p.His533Gln) n.453A>C n.425A>C | |
16 | g.17138520A>G | CA493798216 | XYLT1 | c.1599T>C (p.His533=) n.453A>G n.425A>G | |
16 | g.17138520A>T | CA394875526 | XYLT1 | c.1599T>A (p.His533Gln) n.453A>T n.425A>T |