Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.137199480_137199482dup | CA861145426 | TPRN | c.1232_1234dup (p.Ile411_Arg412insIle) c.626_628dup (p.Ile209_Arg210insIle) n.90+4624_90+4626dup | dbSNP |
9 | g.137199479_137199482dup | CA5362794 | TPRN | c.1230_1233dup (p.Arg412TyrfsTer2) c.624_627dup (p.Arg210TyrfsTer2) n.90+4622_90+4625dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137199480A= | CA1884351215 | TPRN | c.1232T= (p.Ile411=) c.626T= (p.Ile209=) n.90+4624T= | |
9 | g.137199480A>C | CA375777156 | TPRN | c.1232T>G (p.Ile411Ser) c.626T>G (p.Ile209Ser) n.90+4624T>G | |
9 | g.137199480A>G | CA375777158 | TPRN | c.1232T>C (p.Ile411Thr) c.626T>C (p.Ile209Thr) n.90+4624T>C | |
9 | g.137199480A>T | CA375777162 | TPRN | c.1232T>A (p.Ile411Asn) c.626T>A (p.Ile209Asn) n.90+4624T>A | dbSNP gnomAD v2 |
9 | g.137199481T>A | CA375777163 | TPRN | c.1231A>T (p.Ile411Phe) c.625A>T (p.Ile209Phe) n.90+4623A>T | |
9 | g.137199481T>C | CA375777165 | TPRN | c.1231A>G (p.Ile411Val) c.625A>G (p.Ile209Val) n.90+4623A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137199481T>G | CA375777166 | TPRN | c.1231A>C (p.Ile411Leu) c.625A>C (p.Ile209Leu) n.90+4623A>C | |
9 | g.137199481T= | CA1884351216 | TPRN | c.1231A= (p.Ile411=) c.625A= (p.Ile209=) n.90+4623A= | |
9 | g.137199482A>C | CA467925032 | TPRN | c.1230T>G (p.Ala410=) c.624T>G (p.Ala208=) n.90+4622T>G | |
9 | g.137199482A>G | CA467925031 | TPRN | c.1230T>C (p.Ala410=) c.624T>C (p.Ala208=) n.90+4622T>C | dbSNP |
9 | g.137199482A>T | CA467925030 | TPRN | c.1230T>A (p.Ala410=) c.624T>A (p.Ala208=) n.90+4622T>A | |
9 | g.137199483G>A | CA375777167 | TPRN | c.1229C>T (p.Ala410Val) c.623C>T (p.Ala208Val) n.90+4621C>T | dbSNP gnomAD v4 |
9 | g.137199483G>C | CA375777168 | TPRN | c.1229C>G (p.Ala410Gly) c.623C>G (p.Ala208Gly) n.90+4621C>G | |
9 | g.137199483G= | CA1884351217 | TPRN | c.1229C= (p.Ala410=) c.623C= (p.Ala208=) n.90+4621C= | |
9 | g.137199483G>T | CA375777169 | TPRN | c.1229C>A (p.Ala410Asp) c.623C>A (p.Ala208Asp) n.90+4621C>A | gnomAD v4 |
9 | g.137199484C>A | CA375777171 | TPRN | c.1228G>T (p.Ala410Ser) c.622G>T (p.Ala208Ser) n.90+4620G>T | dbSNP gnomAD v4 |
9 | g.137199484C= | CA1884351218 | TPRN | c.1228G= (p.Ala410=) c.622G= (p.Ala208=) n.90+4620G= | |
9 | g.137199484C>G | CA375777174 | TPRN | c.1228G>C (p.Ala410Pro) c.622G>C (p.Ala208Pro) n.90+4620G>C | |
9 | g.137199484C>T | CA375777173 | TPRN | c.1228G>A (p.Ala410Thr) c.622G>A (p.Ala208Thr) n.90+4620G>A | gnomAD v4 |
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= |