Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.137199485C>A | CA467925033 | TPRN | c.1227G>T (p.Arg409=) c.621G>T (p.Arg207=) n.90+4619G>T | |
9 | g.137199485C>G | CA467925034 | TPRN | c.1227G>C (p.Arg409=) c.621G>C (p.Arg207=) n.90+4619G>C | |
9 | g.137199485C>T | CA467925035 | TPRN | c.1227G>A (p.Arg409=) c.621G>A (p.Arg207=) n.90+4619G>A | |
9 | g.137199486C>A | CA375777176 | TPRN | c.1226G>T (p.Arg409Leu) c.620G>T (p.Arg207Leu) n.90+4618G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.137199486C= | CA1884351219 | TPRN | c.1226G= (p.Arg409=) c.620G= (p.Arg207=) n.90+4618G= | |
9 | g.137199486C>G | CA375777178 | TPRN | c.1226G>C (p.Arg409Pro) c.620G>C (p.Arg207Pro) n.90+4618G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137199486C>T | CA375777179 | TPRN | c.1226G>A (p.Arg409Gln) c.620G>A (p.Arg207Gln) n.90+4618G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.137199487G>A | CA5362795 | TPRN | c.1225C>T (p.Arg409Trp) c.619C>T (p.Arg207Trp) n.90+4617C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137199487G>C | CA5362796 | TPRN | c.1225C>G (p.Arg409Gly) c.619C>G (p.Arg207Gly) n.90+4617C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137199487G= | CA1884351220 | TPRN | c.1225C= (p.Arg409=) c.619C= (p.Arg207=) n.90+4617C= | |
9 | g.137199487G>T | CA467925036 | TPRN | c.1225C>A (p.Arg409=) c.619C>A (p.Arg207=) n.90+4617C>A | gnomAD v4 |
9 | g.137199488G>A | CA467925037 | TPRN | c.1224C>T (p.Asp408=) c.618C>T (p.Asp206=) n.90+4616C>T | |
9 | g.137199488G>C | CA375777183 | TPRN | c.1224C>G (p.Asp408Glu) c.618C>G (p.Asp206Glu) n.90+4616C>G | |
9 | g.137199488G>T | CA375777184 | TPRN | c.1224C>A (p.Asp408Glu) c.618C>A (p.Asp206Glu) n.90+4616C>A | gnomAD v4 COSMIC COSMIC |
9 | g.137199489T>A | CA375777186 | TPRN | c.1223A>T (p.Asp408Val) c.617A>T (p.Asp206Val) n.90+4615A>T | |
9 | g.137199489T>C | CA375777188 | TPRN | c.1223A>G (p.Asp408Gly) c.617A>G (p.Asp206Gly) n.90+4615A>G | gnomAD v4 |
9 | g.137199489T>G | CA375777189 | TPRN | c.1223A>C (p.Asp408Ala) c.617A>C (p.Asp206Ala) n.90+4615A>C | |
9 | g.137199490C>A | CA375777192 | TPRN | c.1222G>T (p.Asp408Tyr) c.616G>T (p.Asp206Tyr) n.90+4614G>T | gnomAD v4 |
9 | g.137199490C>G | CA375777193 | TPRN | c.1222G>C (p.Asp408His) c.616G>C (p.Asp206His) n.90+4614G>C | |
9 | g.137199490C>T | CA375777191 | TPRN | c.1222G>A (p.Asp408Asn) c.616G>A (p.Asp206Asn) n.90+4614G>A | gnomAD v4 |
9 | g.137199491A>C | CA467925038 | TPRN | c.1221T>G (p.Ala407=) c.615T>G (p.Ala205=) n.90+4613T>G | |
9 | g.137199491A>G | CA467925039 | TPRN | c.1221T>C (p.Ala407=) c.615T>C (p.Ala205=) n.90+4613T>C | |
9 | g.137199491A>T | CA467925040 | TPRN | c.1221T>A (p.Ala407=) c.615T>A (p.Ala205=) n.90+4613T>A | |
9 | g.137199492G>A | CA375777194 | TPRN | c.1220C>T (p.Ala407Val) c.614C>T (p.Ala205Val) n.90+4612C>T | dbSNP gnomAD v4 |
9 | g.137199492G>C | CA375777195 | TPRN | c.1220C>G (p.Ala407Gly) c.614C>G (p.Ala205Gly) n.90+4612C>G | |
9 | g.137199492G= | CA1884351221 | TPRN | c.1220C= (p.Ala407=) c.614C= (p.Ala205=) n.90+4612C= | |
9 | g.137199492G>T | CA375777196 | TPRN | c.1220C>A (p.Ala407Asp) c.614C>A (p.Ala205Asp) n.90+4612C>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.137199493C>A | CA375777197 | TPRN | c.1219G>T (p.Ala407Ser) c.613G>T (p.Ala205Ser) n.90+4611G>T | gnomAD v4 |
9 | g.137199493C= | CA1884351222 | TPRN | c.1219G= (p.Ala407=) c.613G= (p.Ala205=) n.90+4611G= | |
9 | g.137199493C>G | CA375777198 | TPRN | c.1219G>C (p.Ala407Pro) c.613G>C (p.Ala205Pro) n.90+4611G>C | |
9 | g.137199493C>T | CA375777199 | TPRN | c.1219G>A (p.Ala407Thr) c.613G>A (p.Ala205Thr) n.90+4611G>A | dbSNP gnomAD v4 |
9 | g.137199494G>A | CA5362798 | TPRN | c.1218C>T (p.Leu406=) c.612C>T (p.Leu204=) n.90+4610C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137199494G>C | CA467925042 | TPRN | c.1218C>G (p.Leu406=) c.612C>G (p.Leu204=) n.90+4610C>G | |
9 | g.137199494G= | CA1884351223 | TPRN | c.1218C= (p.Leu406=) c.612C= (p.Leu204=) n.90+4610C= | |
9 | g.137199494G>T | CA467925041 | TPRN | c.1218C>A (p.Leu406=) c.612C>A (p.Leu204=) n.90+4610C>A | gnomAD v4 COSMIC COSMIC |
9 | g.137199494dup | CA5362797 | TPRN | c.1218dup (p.Ala407ArgfsTer2) c.612dup (p.Ala205ArgfsTer2) n.90+4610dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137199495A>C | CA375777205 | TPRN | c.1217T>G (p.Leu406Arg) c.611T>G (p.Leu204Arg) n.90+4609T>G | |
9 | g.137199495A>G | CA375777207 | TPRN | c.1217T>C (p.Leu406Pro) c.611T>C (p.Leu204Pro) n.90+4609T>C | |
9 | g.137199495A>T | CA375777208 | TPRN | c.1217T>A (p.Leu406His) c.611T>A (p.Leu204His) n.90+4609T>A | |
9 | g.137199495_137199499dup | CA2692798523 | TPRN | c.1213_1217dup (p.Ala407ProfsTer?) c.607_611dup (p.Ala205ProfsTer?) n.90+4605_90+4609dup | gnomAD v4 |
9 | g.137199496G>A | CA375777209 | TPRN | c.1216C>T (p.Leu406Phe) c.610C>T (p.Leu204Phe) n.90+4608C>T | dbSNP gnomAD v4 |
9 | g.137199496G>C | CA375777211 | TPRN | c.1216C>G (p.Leu406Val) c.610C>G (p.Leu204Val) n.90+4608C>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137199496G= | CA1884351224 | TPRN | c.1216C= (p.Leu406=) c.610C= (p.Leu204=) n.90+4608C= | |
9 | g.137199496G>T | CA375777213 | TPRN | c.1216C>A (p.Leu406Ile) c.610C>A (p.Leu204Ile) n.90+4608C>A | gnomAD v4 |
9 | g.137199497G>A | CA467925045 | TPRN | c.1215C>T (p.Ala405=) c.609C>T (p.Ala203=) n.90+4607C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.137199497G>C | CA467925043 | TPRN | c.1215C>G (p.Ala405=) c.609C>G (p.Ala203=) n.90+4607C>G | |
9 | g.137199497G= | CA1884351225 | TPRN | c.1215C= (p.Ala405=) c.609C= (p.Ala203=) n.90+4607C= | |
9 | g.137199497G>T | CA467925044 | TPRN | c.1215C>A (p.Ala405=) c.609C>A (p.Ala203=) n.90+4607C>A | |
9 | g.137199498G>A | CA375777219 | TPRN | c.1214C>T (p.Ala405Val) c.608C>T (p.Ala203Val) n.90+4606C>T | dbSNP gnomAD v4 |
9 | g.137199498G>C | CA375777215 | TPRN | c.1214C>G (p.Ala405Gly) c.608C>G (p.Ala203Gly) n.90+4606C>G |