Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.54164551_54164553delinsACG | CA2370267523 | CYP24A1 | c.743_745delinsCGT (p.Thr248=) c.317_319delinsCGT (p.Thr106=) | |
20 | g.54164552C>A | CA510910008 | CYP24A1 | c.744G>T (p.Thr248=) c.318G>T (p.Thr106=) | |
20 | g.54164552C= | CA2370267524 | CYP24A1 | c.744G= (p.Thr248=) c.318G= (p.Thr106=) | |
20 | g.54164552C>G | CA510910009 | CYP24A1 | c.744G>C (p.Thr248=) c.318G>C (p.Thr106=) | gnomAD v4 |
20 | g.54164552C>T | CA9916012 | CYP24A1 | c.744G>A (p.Thr248=) c.318G>A (p.Thr106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164552_54164553delinsT | CA920236153 | CYP24A1 | c.743_744delinsA (p.Thr248AsnfsTer5) c.317_318delinsA (p.Thr106AsnfsTer5) | dbSNP |
20 | g.54164552_54164553delinsCG | CA2370267525 | CYP24A1 | c.743_744delinsCG (p.Thr248=) c.317_318delinsCG (p.Thr106=) | |
20 | g.54164553del | CA920236154 | CYP24A1 | c.743del (p.Thr248SerfsTer5) c.317del (p.Thr106SerfsTer5) | dbSNP |
20 | g.54164553G>A | CA9916013 | CYP24A1 | c.743C>T (p.Thr248Met) c.317C>T (p.Thr106Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.54164553G>C | CA316157264 | CYP24A1 | c.743C>G (p.Thr248Arg) c.317C>G (p.Thr106Arg) | dbSNP |
20 | g.54164553G= | CA2370267526 | CYP24A1 | c.743C= (p.Thr248=) c.317C= (p.Thr106=) | |
20 | g.54164553G>T | CA409392073 | CYP24A1 | c.743C>A (p.Thr248Lys) c.317C>A (p.Thr106Lys) | |
20 | g.54164554T>A | CA409392074 | CYP24A1 | c.742A>T (p.Thr248Ser) c.316A>T (p.Thr106Ser) | |
20 | g.54164554T>C | CA409392075 | CYP24A1 | c.742A>G (p.Thr248Ala) c.316A>G (p.Thr106Ala) | |
20 | g.54164554T>G | CA409392076 | CYP24A1 | c.742A>C (p.Thr248Pro) c.316A>C (p.Thr106Pro) | |
20 | g.54164555G>A | CA510910022 | CYP24A1 | c.741C>T (p.Ser247=) c.315C>T (p.Ser105=) | |
20 | g.54164555G>C | CA409392077 | CYP24A1 | c.741C>G (p.Ser247Arg) c.315C>G (p.Ser105Arg) | |
20 | g.54164555G>T | CA409392078 | CYP24A1 | c.741C>A (p.Ser247Arg) c.315C>A (p.Ser105Arg) | |
20 | g.54164556C>A | CA409392081 | CYP24A1 | c.740G>T (p.Ser247Ile) c.314G>T (p.Ser105Ile) | |
20 | g.54164556C>G | CA409392079 | CYP24A1 | c.740G>C (p.Ser247Thr) c.314G>C (p.Ser105Thr) | |
20 | g.54164556C>T | CA409392080 | CYP24A1 | c.740G>A (p.Ser247Asn) c.314G>A (p.Ser105Asn) | |
20 | g.54164557T>A | CA409392082 | CYP24A1 | c.739A>T (p.Ser247Cys) c.313A>T (p.Ser105Cys) | |
20 | g.54164557T>C | CA409392083 | CYP24A1 | c.739A>G (p.Ser247Gly) c.313A>G (p.Ser105Gly) | |
20 | g.54164557T>G | CA409392084 | CYP24A1 | c.739A>C (p.Ser247Arg) c.313A>C (p.Ser105Arg) | |
20 | g.54164558C>A | CA9916014 | CYP24A1 | c.738G>T (p.Met246Ile) c.312G>T (p.Met104Ile) | dbSNP ExAC gnomAD v2 |
20 | g.54164558C= | CA2370267527 | CYP24A1 | c.738G= (p.Met246=) c.312G= (p.Met104=) | |
20 | g.54164558C>G | CA409392085 | CYP24A1 | c.738G>C (p.Met246Ile) c.312G>C (p.Met104Ile) | |
20 | g.54164558C>T | CA409392086 | CYP24A1 | c.738G>A (p.Met246Ile) c.312G>A (p.Met104Ile) | |
20 | g.54164559A= | CA2370267528 | CYP24A1 | c.737T= (p.Met246=) c.311T= (p.Met104=) | |
20 | g.54164559A>C | CA409392087 | CYP24A1 | c.737T>G (p.Met246Arg) c.311T>G (p.Met104Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164559A>G | CA409392088 | CYP24A1 | c.737T>C (p.Met246Thr) c.311T>C (p.Met104Thr) | |
20 | g.54164559A>T | CA409392089 | CYP24A1 | c.737T>A (p.Met246Lys) c.311T>A (p.Met104Lys) | |
20 | g.54164560T>A | CA409392090 | CYP24A1 | c.736A>T (p.Met246Leu) c.310A>T (p.Met104Leu) | |
20 | g.54164560T>C | CA409392091 | CYP24A1 | c.736A>G (p.Met246Val) c.310A>G (p.Met104Val) | |
20 | g.54164560T>G | CA409392092 | CYP24A1 | c.736A>C (p.Met246Leu) c.310A>C (p.Met104Leu) | |
20 | g.54164561C>A | CA409392093 | CYP24A1 | c.735G>T (p.Met245Ile) c.309G>T (p.Met103Ile) | |
20 | g.54164561C= | CA2370267529 | CYP24A1 | c.735G= (p.Met245=) c.309G= (p.Met103=) | |
20 | g.54164561C>G | CA409392094 | CYP24A1 | c.735G>C (p.Met245Ile) c.309G>C (p.Met103Ile) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.54164561C>T | CA9916015 | CYP24A1 | c.735G>A (p.Met245Ile) c.309G>A (p.Met103Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164562A= | CA2370267530 | CYP24A1 | c.734T= (p.Met245=) c.308T= (p.Met103=) | |
20 | g.54164562A>C | CA409392097 | CYP24A1 | c.734T>G (p.Met245Arg) c.308T>G (p.Met103Arg) | |
20 | g.54164562A>G | CA409392095 | CYP24A1 | c.734T>C (p.Met245Thr) c.308T>C (p.Met103Thr) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.54164562A>T | CA409392096 | CYP24A1 | c.734T>A (p.Met245Lys) c.308T>A (p.Met103Lys) | |
20 | g.54164563T>A | CA409392098 | CYP24A1 | c.733A>T (p.Met245Leu) c.307A>T (p.Met103Leu) | |
20 | g.54164563T>C | CA409392099 | CYP24A1 | c.733A>G (p.Met245Val) c.307A>G (p.Met103Val) | |
20 | g.54164563T>G | CA409392100 | CYP24A1 | c.733A>C (p.Met245Leu) c.307A>C (p.Met103Leu) | dbSNP |
20 | g.54164563T= | CA2370267531 | CYP24A1 | c.733A= (p.Met245=) c.307A= (p.Met103=) | |
20 | g.54164564C>A | CA409392101 | CYP24A1 | c.733-1G>T (n.733-1G>T) c.307-1G>T (n.307-1G>T) | |
20 | g.54164564C= | CA2370267532 | CYP24A1 | c.733-1G= (n.733-1G=) c.307-1G= (n.307-1G=) | |
20 | g.54164564C>G | CA409392102 | CYP24A1 | c.733-1G>C (n.733-1G>C) c.307-1G>C (n.307-1G>C) |