| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.99762177G>A | CA4369554 | CYP3A4 | c.1117C>T (p.Leu373Phe) n.552C>T c.658C>T (p.Leu220Phe) c.970C>T (p.Leu324Phe) c.667C>T (p.Leu223Phe) c.1114C>T (p.Leu372Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762177G>C | CA368369309 | CYP3A4 | c.1117C>G (p.Leu373Val) n.552C>G c.658C>G (p.Leu220Val) c.970C>G (p.Leu324Val) c.667C>G (p.Leu223Val) c.1114C>G (p.Leu372Val) | |
| 7 | g.99762177G= | CA1729177336 | CYP3A4 | c.1117C= (p.Leu373=) n.552C= c.658C= (p.Leu220=) c.970C= (p.Leu324=) c.667C= (p.Leu223=) c.1114C= (p.Leu372=) | |
| 7 | g.99762177G>T | CA368369307 | CYP3A4 | c.1117C>A (p.Leu373Ile) n.552C>A c.658C>A (p.Leu220Ile) c.970C>A (p.Leu324Ile) c.667C>A (p.Leu223Ile) c.1114C>A (p.Leu372Ile) | |
| 7 | g.99762178T>A | CA368369314 | CYP3A4 | c.1116A>T (p.Arg372Ser) n.551A>T c.657A>T (p.Arg219Ser) c.969A>T (p.Arg323Ser) c.666A>T (p.Arg222Ser) c.1113A>T (p.Arg371Ser) | |
| 7 | g.99762178T>C | CA456687202 | CYP3A4 | c.1116A>G (p.Arg372=) n.551A>G c.657A>G (p.Arg219=) c.969A>G (p.Arg323=) c.666A>G (p.Arg222=) c.1113A>G (p.Arg371=) | |
| 7 | g.99762178T>G | CA368369315 | CYP3A4 | c.1116A>C (p.Arg372Ser) n.551A>C c.657A>C (p.Arg219Ser) c.969A>C (p.Arg323Ser) c.666A>C (p.Arg222Ser) c.1113A>C (p.Arg371Ser) | |
| 7 | g.99762179C>A | CA4369555 | CYP3A4 | c.1115G>T (p.Arg372Ile) n.550G>T c.656G>T (p.Arg219Ile) c.968G>T (p.Arg323Ile) c.665G>T (p.Arg222Ile) c.1112G>T (p.Arg371Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762179C= | CA1729177337 | CYP3A4 | c.1115G= (p.Arg372=) n.550G= c.656G= (p.Arg219=) c.968G= (p.Arg323=) c.665G= (p.Arg222=) c.1112G= (p.Arg371=) | |
| 7 | g.99762179C>G | CA4369556 | CYP3A4 | c.1115G>C (p.Arg372Thr) n.550G>C c.656G>C (p.Arg219Thr) c.968G>C (p.Arg323Thr) c.665G>C (p.Arg222Thr) c.1112G>C (p.Arg371Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762179C>T | CA368369316 | CYP3A4 | c.1115G>A (p.Arg372Lys) n.550G>A c.656G>A (p.Arg219Lys) c.968G>A (p.Arg323Lys) c.665G>A (p.Arg222Lys) c.1112G>A (p.Arg371Lys) | |
| 7 | g.99762180T>A | CA368369317 | CYP3A4 | c.1114A>T (p.Arg372Ter) n.549A>T c.655A>T (p.Arg219Ter) c.967A>T (p.Arg323Ter) c.664A>T (p.Arg222Ter) c.1111A>T (p.Arg371Ter) | |
| 7 | g.99762180T>C | CA368369318 | CYP3A4 | c.1114A>G (p.Arg372Gly) n.549A>G c.655A>G (p.Arg219Gly) c.967A>G (p.Arg323Gly) c.664A>G (p.Arg222Gly) c.1111A>G (p.Arg371Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99762180T>G | CA456687203 | CYP3A4 | c.1114A>C (p.Arg372=) n.549A>C c.655A>C (p.Arg219=) c.967A>C (p.Arg323=) c.664A>C (p.Arg222=) c.1111A>C (p.Arg371=) | |
| 7 | g.99762180T= | CA1729177338 | CYP3A4 | c.1114A= (p.Arg372=) n.549A= c.655A= (p.Arg219=) c.967A= (p.Arg323=) c.664A= (p.Arg222=) c.1111A= (p.Arg371=) | |
| 7 | g.99762181C>A | CA368369319 | CYP3A4 | c.1113G>T (p.Met371Ile) n.548G>T c.654G>T (p.Met218Ile) c.966G>T (p.Met322Ile) c.663G>T (p.Met221Ile) c.1110G>T (p.Met370Ile) | |
| 7 | g.99762181C>G | CA368369320 | CYP3A4 | c.1113G>C (p.Met371Ile) n.548G>C c.654G>C (p.Met218Ile) c.966G>C (p.Met322Ile) c.663G>C (p.Met221Ile) c.1110G>C (p.Met370Ile) | |
| 7 | g.99762181C>T | CA368369323 | CYP3A4 | c.1113G>A (p.Met371Ile) n.548G>A c.654G>A (p.Met218Ile) c.966G>A (p.Met322Ile) c.663G>A (p.Met221Ile) c.1110G>A (p.Met370Ile) | |
| 7 | g.99762182A= | CA1729177339 | CYP3A4 | c.1112T= (p.Met371=) n.547T= c.653T= (p.Met218=) c.965T= (p.Met322=) c.662T= (p.Met221=) c.1109T= (p.Met370=) | |
| 7 | g.99762182A>C | CA368369325 | CYP3A4 | c.1112T>G (p.Met371Arg) n.547T>G c.653T>G (p.Met218Arg) c.965T>G (p.Met322Arg) c.662T>G (p.Met221Arg) c.1109T>G (p.Met370Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762182A>G | CA368369327 | CYP3A4 | c.1112T>C (p.Met371Thr) n.547T>C c.653T>C (p.Met218Thr) c.965T>C (p.Met322Thr) c.662T>C (p.Met221Thr) c.1109T>C (p.Met370Thr) | gnomAD v4 |
| 7 | g.99762182A>T | CA368369329 | CYP3A4 | c.1112T>A (p.Met371Lys) n.547T>A c.653T>A (p.Met218Lys) c.965T>A (p.Met322Lys) c.662T>A (p.Met221Lys) c.1109T>A (p.Met370Lys) | |
| 7 | g.99762183T>A | CA368369334 | CYP3A4 | c.1111A>T (p.Met371Leu) n.546A>T c.652A>T (p.Met218Leu) c.964A>T (p.Met322Leu) c.661A>T (p.Met221Leu) c.1108A>T (p.Met370Leu) | |
| 7 | g.99762183T>C | CA368369336 | CYP3A4 | c.1111A>G (p.Met371Val) n.546A>G c.652A>G (p.Met218Val) c.964A>G (p.Met322Val) c.661A>G (p.Met221Val) c.1108A>G (p.Met370Val) | |
| 7 | g.99762183T>G | CA368369332 | CYP3A4 | c.1111A>C (p.Met371Leu) n.546A>C c.652A>C (p.Met218Leu) c.964A>C (p.Met322Leu) c.661A>C (p.Met221Leu) c.1108A>C (p.Met370Leu) | |
| 7 | g.99762184A= | CA1729177340 | CYP3A4 | c.1110T= (p.Ala370=) n.545T= c.651T= (p.Ala217=) c.963T= (p.Ala321=) c.660T= (p.Ala220=) c.1107T= (p.Ala369=) | |
| 7 | g.99762184A>C | CA456687204 | CYP3A4 | c.1110T>G (p.Ala370=) n.545T>G c.651T>G (p.Ala217=) c.963T>G (p.Ala321=) c.660T>G (p.Ala220=) c.1107T>G (p.Ala369=) | |
| 7 | g.99762184A>G | CA4369557 | CYP3A4 | c.1110T>C (p.Ala370=) n.545T>C c.651T>C (p.Ala217=) c.963T>C (p.Ala321=) c.660T>C (p.Ala220=) c.1107T>C (p.Ala369=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.99762184A>T | CA456687205 | CYP3A4 | c.1110T>A (p.Ala370=) n.545T>A c.651T>A (p.Ala217=) c.963T>A (p.Ala321=) c.660T>A (p.Ala220=) c.1107T>A (p.Ala369=) | |
| 7 | g.99762185G>A | CA368369342 | CYP3A4 | c.1109C>T (p.Ala370Val) n.544C>T c.650C>T (p.Ala217Val) c.962C>T (p.Ala321Val) c.659C>T (p.Ala220Val) c.1106C>T (p.Ala369Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.99762185G>C | CA368369341 | CYP3A4 | c.1109C>G (p.Ala370Gly) n.544C>G c.650C>G (p.Ala217Gly) c.962C>G (p.Ala321Gly) c.659C>G (p.Ala220Gly) c.1106C>G (p.Ala369Gly) | |
| 7 | g.99762185G= | CA1729177341 | CYP3A4 | c.1109C= (p.Ala370=) n.544C= c.650C= (p.Ala217=) c.962C= (p.Ala321=) c.659C= (p.Ala220=) c.1106C= (p.Ala369=) | |
| 7 | g.99762185G>T | CA368369344 | CYP3A4 | c.1109C>A (p.Ala370Asp) n.544C>A c.650C>A (p.Ala217Asp) c.962C>A (p.Ala321Asp) c.659C>A (p.Ala220Asp) c.1106C>A (p.Ala369Asp) | |
| 7 | g.99762186C>A | CA4369558 | CYP3A4 | c.1108G>T (p.Ala370Ser) n.543G>T c.649G>T (p.Ala217Ser) c.961G>T (p.Ala321Ser) c.658G>T (p.Ala220Ser) c.1105G>T (p.Ala369Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762186C= | CA1729177342 | CYP3A4 | c.1108G= (p.Ala370=) n.543G= c.649G= (p.Ala217=) c.961G= (p.Ala321=) c.658G= (p.Ala220=) c.1105G= (p.Ala369=) | |
| 7 | g.99762186C>G | CA368369350 | CYP3A4 | c.1108G>C (p.Ala370Pro) n.543G>C c.649G>C (p.Ala217Pro) c.961G>C (p.Ala321Pro) c.658G>C (p.Ala220Pro) c.1105G>C (p.Ala369Pro) | |
| 7 | g.99762186C>T | CA368369348 | CYP3A4 | c.1108G>A (p.Ala370Thr) n.543G>A c.649G>A (p.Ala217Thr) c.961G>A (p.Ala321Thr) c.658G>A (p.Ala220Thr) c.1105G>A (p.Ala369Thr) | |
| 7 | g.99762187A= | CA1729177343 | CYP3A4 | c.1107T= (p.Ile369=) n.542T= c.648T= (p.Ile216=) c.960T= (p.Ile320=) c.657T= (p.Ile219=) c.1104T= (p.Ile368=) | |
| 7 | g.99762187A>C | CA368369352 | CYP3A4 | c.1107T>G (p.Ile369Met) n.542T>G c.648T>G (p.Ile216Met) c.960T>G (p.Ile320Met) c.657T>G (p.Ile219Met) c.1104T>G (p.Ile368Met) | |
| 7 | g.99762187A>G | CA456687207 | CYP3A4 | c.1107T>C (p.Ile369=) n.542T>C c.648T>C (p.Ile216=) c.960T>C (p.Ile320=) c.657T>C (p.Ile219=) c.1104T>C (p.Ile368=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99762187A>T | CA456687206 | CYP3A4 | c.1107T>A (p.Ile369=) n.542T>A c.648T>A (p.Ile216=) c.960T>A (p.Ile320=) c.657T>A (p.Ile219=) c.1104T>A (p.Ile368=) | |
| 7 | g.99762188A= | CA1729177344 | CYP3A4 | c.1106T= (p.Ile369=) n.541T= c.647T= (p.Ile216=) c.959T= (p.Ile320=) c.656T= (p.Ile219=) c.1103T= (p.Ile368=) | |
| 7 | g.99762188A>C | CA368369355 | CYP3A4 | c.1106T>G (p.Ile369Ser) n.541T>G c.647T>G (p.Ile216Ser) c.959T>G (p.Ile320Ser) c.656T>G (p.Ile219Ser) c.1103T>G (p.Ile368Ser) | |
| 7 | g.99762188A>G | CA368369356 | CYP3A4 | c.1106T>C (p.Ile369Thr) n.541T>C c.647T>C (p.Ile216Thr) c.959T>C (p.Ile320Thr) c.656T>C (p.Ile219Thr) c.1103T>C (p.Ile368Thr) | |
| 7 | g.99762188A>T | CA368369358 | CYP3A4 | c.1106T>A (p.Ile369Asn) n.541T>A c.647T>A (p.Ile216Asn) c.959T>A (p.Ile320Asn) c.656T>A (p.Ile219Asn) c.1103T>A (p.Ile368Asn) | dbSNP |
| 7 | g.99762189T>A | CA368369361 | CYP3A4 | c.1105A>T (p.Ile369Phe) n.540A>T c.646A>T (p.Ile216Phe) c.958A>T (p.Ile320Phe) c.655A>T (p.Ile219Phe) c.1102A>T (p.Ile368Phe) | |
| 7 | g.99762189T>C | CA4369559 | CYP3A4 | c.1105A>G (p.Ile369Val) n.540A>G c.646A>G (p.Ile216Val) c.958A>G (p.Ile320Val) c.655A>G (p.Ile219Val) c.1102A>G (p.Ile368Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762189T>G | CA368369364 | CYP3A4 | c.1105A>C (p.Ile369Leu) n.540A>C c.646A>C (p.Ile216Leu) c.958A>C (p.Ile320Leu) c.655A>C (p.Ile219Leu) c.1102A>C (p.Ile368Leu) | |
| 7 | g.99762189T= | CA1729177345 | CYP3A4 | c.1105A= (p.Ile369=) n.540A= c.646A= (p.Ile216=) c.958A= (p.Ile320=) c.655A= (p.Ile219=) c.1102A= (p.Ile368=) | |
| 7 | g.99762190T>A | CA456687210 | CYP3A4 | c.1104A>T (p.Pro368=) n.539A>T c.645A>T (p.Pro215=) c.957A>T (p.Pro319=) c.654A>T (p.Pro218=) c.1101A>T (p.Pro367=) |