Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.64616216_64616220delinsATTGT | CA1789664502 | CYP7B1 | c.321_325delinsACAAT (p.Lys107=) c.387_391delinsACAAT (p.Lys129=) | |
8 | g.64616219_64616222del | CA4764231 | CYP7B1 | c.321_324del (p.Lys107AsnfsTer2) c.387_390del (p.Lys129AsnfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616219G>A | CA371336213 | CYP7B1 | c.322C>T (p.Gln108Ter) c.388C>T (p.Gln130Ter) | dbSNP |
8 | g.64616219G>C | CA371336217 | CYP7B1 | c.322C>G (p.Gln108Glu) c.388C>G (p.Gln130Glu) | |
8 | g.64616219G= | CA1789664503 | CYP7B1 | c.322C= (p.Gln108=) c.388C= (p.Gln130=) | |
8 | g.64616219G>T | CA371336215 | CYP7B1 | c.322C>A (p.Gln108Lys) c.388C>A (p.Gln130Lys) | gnomAD v4 |
8 | g.64616220T>A | CA371336221 | CYP7B1 | c.321A>T (p.Lys107Asn) c.387A>T (p.Lys129Asn) | |
8 | g.64616220T>C | CA461422270 | CYP7B1 | c.321A>G (p.Lys107=) c.387A>G (p.Lys129=) | |
8 | g.64616220T>G | CA371336222 | CYP7B1 | c.321A>C (p.Lys107Asn) c.387A>C (p.Lys129Asn) | |
8 | g.64616221T>A | CA371336225 | CYP7B1 | c.320A>T (p.Lys107Ile) c.386A>T (p.Lys129Ile) | |
8 | g.64616221T>C | CA371336228 | CYP7B1 | c.320A>G (p.Lys107Arg) c.386A>G (p.Lys129Arg) | COSMIC |
8 | g.64616221T>G | CA371336231 | CYP7B1 | c.320A>C (p.Lys107Thr) c.386A>C (p.Lys129Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616221T= | CA1789664504 | CYP7B1 | c.320A= (p.Lys107=) c.386A= (p.Lys129=) | |
8 | g.64616222T>A | CA371336234 | CYP7B1 | c.319A>T (p.Lys107Ter) c.385A>T (p.Lys129Ter) | |
8 | g.64616222T>C | CA371336236 | CYP7B1 | c.319A>G (p.Lys107Glu) c.385A>G (p.Lys129Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616222T>G | CA371336238 | CYP7B1 | c.319A>C (p.Lys107Gln) c.385A>C (p.Lys129Gln) | |
8 | g.64616222T= | CA1789664505 | CYP7B1 | c.319A= (p.Lys107=) c.385A= (p.Lys129=) | |
8 | g.64616223A>C | CA371336240 | CYP7B1 | c.318T>G (p.His106Gln) c.384T>G (p.His128Gln) | |
8 | g.64616223A>G | CA461422281 | CYP7B1 | c.318T>C (p.His106=) c.384T>C (p.His128=) | |
8 | g.64616223A>T | CA371336243 | CYP7B1 | c.318T>A (p.His106Gln) c.384T>A (p.His128Gln) | |
8 | g.64616224T>A | CA371336250 | CYP7B1 | c.317A>T (p.His106Leu) c.383A>T (p.His128Leu) | |
8 | g.64616224T>C | CA178389804 | CYP7B1 | c.317A>G (p.His106Arg) c.383A>G (p.His128Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616224T>G | CA371336247 | CYP7B1 | c.317A>C (p.His106Pro) c.383A>C (p.His128Pro) | |
8 | g.64616224T= | CA1789664506 | CYP7B1 | c.317A= (p.His106=) c.383A= (p.His128=) | |
8 | g.64616225G>A | CA371336251 | CYP7B1 | c.316C>T (p.His106Tyr) c.382C>T (p.His128Tyr) | gnomAD v4 |
8 | g.64616225G>C | CA371336255 | CYP7B1 | c.316C>G (p.His106Asp) c.382C>G (p.His128Asp) | |
8 | g.64616225G>T | CA371336253 | CYP7B1 | c.316C>A (p.His106Asn) c.382C>A (p.His128Asn) | dbSNP gnomAD v4 |
8 | g.64616226A= | CA1789664507 | CYP7B1 | c.315T= (p.Asn105=) c.381T= (p.Asn127=) | |
8 | g.64616226A>C | CA371336259 | CYP7B1 | c.315T>G (p.Asn105Lys) c.381T>G (p.Asn127Lys) | |
8 | g.64616226A>G | CA461422295 | CYP7B1 | c.315T>C (p.Asn105=) c.381T>C (p.Asn127=) | |
8 | g.64616226A>T | CA371336261 | CYP7B1 | c.315T>A (p.Asn105Lys) c.381T>A (p.Asn127Lys) | |
8 | g.64616227T>A | CA371336265 | CYP7B1 | c.314A>T (p.Asn105Ile) c.380A>T (p.Asn127Ile) | |
8 | g.64616227T>C | CA371336268 | CYP7B1 | c.314A>G (p.Asn105Ser) c.380A>G (p.Asn127Ser) | |
8 | g.64616227T>G | CA371336270 | CYP7B1 | c.314A>C (p.Asn105Thr) c.380A>C (p.Asn127Thr) | |
8 | g.64616232dup | CA4764232 | CYP7B1 | c.314dup (p.Asn105LysfsTer3) c.380dup (p.Asn127LysfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616232del | CA2687454669 | CYP7B1 | c.314del (p.Asn105IlefsTer5) c.380del (p.Asn127IlefsTer5) | gnomAD v4 |
8 | g.64616228T>A | CA371336273 | CYP7B1 | c.313A>T (p.Asn105Tyr) c.379A>T (p.Asn127Tyr) | |
8 | g.64616228T>C | CA371336275 | CYP7B1 | c.313A>G (p.Asn105Asp) c.379A>G (p.Asn127Asp) | |
8 | g.64616228T>G | CA371336278 | CYP7B1 | c.313A>C (p.Asn105His) c.379A>C (p.Asn127His) | |
8 | g.64616229T>A | CA371336281 | CYP7B1 | c.312A>T (p.Lys104Asn) c.378A>T (p.Lys126Asn) | |
8 | g.64616229T>C | CA461422311 | CYP7B1 | c.312A>G (p.Lys104=) c.378A>G (p.Lys126=) | |
8 | g.64616229T>G | CA371336283 | CYP7B1 | c.312A>C (p.Lys104Asn) c.378A>C (p.Lys126Asn) | |
8 | g.64616230T>A | CA371336286 | CYP7B1 | c.311A>T (p.Lys104Ile) c.377A>T (p.Lys126Ile) | |
8 | g.64616230T>C | CA371336287 | CYP7B1 | c.311A>G (p.Lys104Arg) c.377A>G (p.Lys126Arg) | |
8 | g.64616230T>G | CA371336289 | CYP7B1 | c.311A>C (p.Lys104Thr) c.377A>C (p.Lys126Thr) | |
8 | g.64616231T>A | CA371336297 | CYP7B1 | c.310A>T (p.Lys104Ter) c.376A>T (p.Lys126Ter) | |
8 | g.64616231T>C | CA371336291 | CYP7B1 | c.310A>G (p.Lys104Glu) c.376A>G (p.Lys126Glu) | |
8 | g.64616231T>G | CA371336294 | CYP7B1 | c.310A>C (p.Lys104Gln) c.376A>C (p.Lys126Gln) | gnomAD v4 |
8 | g.64616232T>A | CA461422323 | CYP7B1 | c.309A>T (p.Ile103=) c.375A>T (p.Ile125=) | |
8 | g.64616232T>C | CA371336300 | CYP7B1 | c.309A>G (p.Ile103Met) c.375A>G (p.Ile125Met) |