Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.41144518A= | CA2425808937 | USP9X | c.1315-4A= (n.1315-4A=) c.1162-4A= (n.1162-4A=) c.545-4A= | |
X | g.41144518A>G | CA16608923 | USP9X | c.1315-4A>G (n.1315-4A>G) c.1162-4A>G (n.1162-4A>G) c.545-4A>G | ClinVar dbSNP gnomAD v4 |
X | g.41144519T>C | CA329014823 | USP9X | c.1315-3T>C (n.1315-3T>C) c.1162-3T>C (n.1162-3T>C) c.545-3T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.41144519T= | CA2425808938 | USP9X | c.1315-3T= (n.1315-3T=) c.1162-3T= (n.1162-3T=) c.545-3T= | |
X | g.41144520A>C | CA412770127 | USP9X | c.1315-2A>C (n.1315-2A>C) c.1162-2A>C (n.1162-2A>C) c.545-2A>C | |
X | g.41144520A>G | CA412770130 | USP9X | c.1315-2A>G (n.1315-2A>G) c.1162-2A>G (n.1162-2A>G) c.545-2A>G | |
X | g.41144520A>T | CA412770133 | USP9X | c.1315-2A>T (n.1315-2A>T) c.1162-2A>T (n.1162-2A>T) c.545-2A>T | |
X | g.41144521G>A | CA412770136 | USP9X | c.1315-1G>A (n.1315-1G>A) c.1162-1G>A (n.1162-1G>A) c.545-1G>A | |
X | g.41144521G>C | CA412770139 | USP9X | c.1315-1G>C (n.1315-1G>C) c.1162-1G>C (n.1162-1G>C) c.545-1G>C | |
X | g.41144521G>T | CA412770142 | USP9X | c.1315-1G>T (n.1315-1G>T) c.1162-1G>T (n.1162-1G>T) c.545-1G>T | |
X | g.41144522G>A | CA412770150 | USP9X | c.1315G>A (p.Ala439Thr) c.1162G>A (p.Ala388Thr) c.545G>A | |
X | g.41144522G>C | CA412770148 | USP9X | c.1315G>C (p.Ala439Pro) c.1162G>C (p.Ala388Pro) c.545G>C | |
X | g.41144522G>T | CA412770145 | USP9X | c.1315G>T (p.Ala439Ser) c.1162G>T (p.Ala388Ser) c.545G>T | |
X | g.41144523C>A | CA412770154 | USP9X | c.1316C>A (p.Ala439Glu) c.1163C>A (p.Ala388Glu) c.546C>A | |
X | g.41144523C>G | CA412770157 | USP9X | c.1316C>G (p.Ala439Gly) c.1163C>G (p.Ala388Gly) c.546C>G | |
X | g.41144523C>T | CA412770160 | USP9X | c.1316C>T (p.Ala439Val) c.1163C>T (p.Ala388Val) c.546C>T | |
X | g.41144524A>C | CA515969271 | USP9X | c.1317A>C (p.Ala439=) c.1164A>C (p.Ala388=) c.547A>C | |
X | g.41144524A>G | CA515969273 | USP9X | c.1317A>G (p.Ala439=) c.1164A>G (p.Ala388=) c.547A>G | |
X | g.41144524A>T | CA515969274 | USP9X | c.1317A>T (p.Ala439=) c.1164A>T (p.Ala388=) c.547A>T | |
X | g.41144525G>A | CA412770164 | USP9X | c.1318G>A (p.Gly440Arg) c.1165G>A (p.Gly389Arg) c.548G>A | |
X | g.41144525G>C | CA412770166 | USP9X | c.1318G>C (p.Gly440Arg) c.1165G>C (p.Gly389Arg) c.548G>C | |
X | g.41144525G>T | CA412770168 | USP9X | c.1318G>T (p.Gly440Trp) c.1165G>T (p.Gly389Trp) c.548G>T | |
X | g.41144526G>A | CA412770174 | USP9X | c.1319G>A (p.Gly440Glu) c.1166G>A (p.Gly389Glu) c.549G>A | |
X | g.41144526G>C | CA412770178 | USP9X | c.1319G>C (p.Gly440Ala) c.1166G>C (p.Gly389Ala) c.549G>C | |
X | g.41144526G>T | CA412770175 | USP9X | c.1319G>T (p.Gly440Val) c.1166G>T (p.Gly389Val) c.549G>T | |
X | g.41144527G>A | CA515969289 | USP9X | c.1320G>A (p.Gly440=) c.1167G>A (p.Gly389=) c.550G>A | |
X | g.41144527G>C | CA515969290 | USP9X | c.1320G>C (p.Gly440=) c.1167G>C (p.Gly389=) c.550G>C | |
X | g.41144527G>T | CA515969291 | USP9X | c.1320G>T (p.Gly440=) c.1167G>T (p.Gly389=) c.550G>T | |
X | g.41144528A>C | CA412770182 | USP9X | c.1321A>C (p.Lys441Gln) c.1168A>C (p.Lys390Gln) c.551A>C | |
X | g.41144528A>G | CA412770184 | USP9X | c.1321A>G (p.Lys441Glu) c.1168A>G (p.Lys390Glu) c.551A>G | |
X | g.41144528A>T | CA412770186 | USP9X | c.1321A>T (p.Lys441Ter) c.1168A>T (p.Lys390Ter) c.551A>T | |
X | g.41144529A>C | CA412770190 | USP9X | c.1322A>C (p.Lys441Thr) c.1169A>C (p.Lys390Thr) c.552A>C | |
X | g.41144529A>G | CA412770192 | USP9X | c.1322A>G (p.Lys441Arg) c.1169A>G (p.Lys390Arg) c.552A>G | |
X | g.41144529A>T | CA412770195 | USP9X | c.1322A>T (p.Lys441Ile) c.1169A>T (p.Lys390Ile) c.552A>T | |
X | g.41144530A>C | CA412770196 | USP9X | c.1323A>C (p.Lys441Asn) c.1170A>C (p.Lys390Asn) c.553A>C | |
X | g.41144530A>G | CA515969306 | USP9X | c.1323A>G (p.Lys441=) c.1170A>G (p.Lys390=) c.553A>G | |
X | g.41144530A>T | CA412770199 | USP9X | c.1323A>T (p.Lys441Asn) c.1170A>T (p.Lys390Asn) c.553A>T | |
X | g.41144531C>A | CA412770202 | USP9X | c.1324C>A (p.His442Asn) c.1171C>A (p.His391Asn) c.554C>A | |
X | g.41144531C>G | CA412770205 | USP9X | c.1324C>G (p.His442Asp) c.1171C>G (p.His391Asp) c.554C>G | |
X | g.41144531C>T | CA412770208 | USP9X | c.1324C>T (p.His442Tyr) c.1171C>T (p.His391Tyr) c.554C>T | |
X | g.41144532A>C | CA412770212 | USP9X | c.1325A>C (p.His442Pro) c.1172A>C (p.His391Pro) c.555A>C | |
X | g.41144532A>G | CA412770217 | USP9X | c.1325A>G (p.His442Arg) c.1172A>G (p.His391Arg) c.555A>G | |
X | g.41144532A>T | CA412770214 | USP9X | c.1325A>T (p.His442Leu) c.1172A>T (p.His391Leu) c.555A>T | |
X | g.41144533T>A | CA412770220 | USP9X | c.1326T>A (p.His442Gln) c.1173T>A (p.His391Gln) c.556T>A | |
X | g.41144533T>C | CA515969325 | USP9X | c.1326T>C (p.His442=) c.1173T>C (p.His391=) c.556T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.41144533T>G | CA412770222 | USP9X | c.1326T>G (p.His442Gln) c.1173T>G (p.His391Gln) c.556T>G | |
X | g.41144533T= | CA2425808939 | USP9X | c.1326T= (p.His442=) c.1173T= (p.His391=) c.556T= | |
X | g.41144534G>A | CA412770225 | USP9X | c.1327G>A (p.Glu443Lys) c.1174G>A (p.Glu392Lys) c.557G>A | ClinVar dbSNP |
X | g.41144534G>C | CA412770226 | USP9X | c.1327G>C (p.Glu443Gln) c.1174G>C (p.Glu392Gln) c.557G>C | |
X | g.41144534G= | CA2425808940 | USP9X | c.1327G= (p.Glu443=) c.1174G= (p.Glu392=) c.557G= |