UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137199474C>A | CA375777131 | TPRN | c.1238G>T (p.Trp413Leu) c.632G>T (p.Trp211Leu) n.90+4630G>T | gnomAD v4 |
| 9 | g.137199474C>G | CA375777132 | TPRN | c.1238G>C (p.Trp413Ser) c.632G>C (p.Trp211Ser) n.90+4630G>C | |
| 9 | g.137199474C>T | CA375777133 | TPRN | c.1238G>A (p.Trp413Ter) c.632G>A (p.Trp211Ter) n.90+4630G>A | |
| 9 | g.137199475A>C | CA375777135 | TPRN | c.1237T>G (p.Trp413Gly) c.631T>G (p.Trp211Gly) n.90+4629T>G | gnomAD v4 |
| 9 | g.137199475A>G | CA375777136 | TPRN | c.1237T>C (p.Trp413Arg) c.631T>C (p.Trp211Arg) n.90+4629T>C | |
| 9 | g.137199475A>T | CA375777138 | TPRN | c.1237T>A (p.Trp413Arg) c.631T>A (p.Trp211Arg) n.90+4629T>A | |
| 9 | g.137199476C>A | CA375777139 | TPRN | c.1236G>T (p.Arg412Ser) c.630G>T (p.Arg210Ser) n.90+4628G>T | |
| 9 | g.137199476C= | CA1884351211 | TPRN | c.1236G= (p.Arg412=) c.630G= (p.Arg210=) n.90+4628G= | |
| 9 | g.137199476C>G | CA375777141 | TPRN | c.1236G>C (p.Arg412Ser) c.630G>C (p.Arg210Ser) n.90+4628G>C | |
| 9 | g.137199476C>T | CA467925026 | TPRN | c.1236G>A (p.Arg412=) c.630G>A (p.Arg210=) n.90+4628G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199477C>A | CA375777142 | TPRN | c.1235G>T (p.Arg412Met) c.629G>T (p.Arg210Met) n.90+4627G>T | dbSNP gnomAD v4 |
| 9 | g.137199477C= | CA1884351212 | TPRN | c.1235G= (p.Arg412=) c.629G= (p.Arg210=) n.90+4627G= | |
| 9 | g.137199477C>G | CA375777145 | TPRN | c.1235G>C (p.Arg412Thr) c.629G>C (p.Arg210Thr) n.90+4627G>C | |
| 9 | g.137199477C>T | CA375777143 | TPRN | c.1235G>A (p.Arg412Lys) c.629G>A (p.Arg210Lys) n.90+4627G>A | gnomAD v4 |
| 9 | g.137199478T>A | CA375777147 | TPRN | c.1234A>T (p.Arg412Trp) c.628A>T (p.Arg210Trp) n.90+4626A>T | gnomAD v4 |
| 9 | g.137199478T>C | CA375777149 | TPRN | c.1234A>G (p.Arg412Gly) c.628A>G (p.Arg210Gly) n.90+4626A>G | gnomAD v4 |
| 9 | g.137199478T>G | CA467925027 | TPRN | c.1234A>C (p.Arg412=) c.628A>C (p.Arg210=) n.90+4626A>C | |
| 9 | g.137199478T= | CA1884351213 | TPRN | c.1234A= (p.Arg412=) c.628A= (p.Arg210=) n.90+4626A= | |
| 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.137199479A= | CA1884351214 | TPRN | c.1233T= (p.Ile411=) c.627T= (p.Ile209=) n.90+4625T= | |
| 9 | g.137199479A>C | CA375777154 | TPRN | c.1233T>G (p.Ile411Met) c.627T>G (p.Ile209Met) n.90+4625T>G | dbSNP |
| 9 | g.137199479A>G | CA467925028 | TPRN | c.1233T>C (p.Ile411=) c.627T>C (p.Ile209=) n.90+4625T>C | dbSNP |
| 9 | g.137199479A>T | CA467925029 | TPRN | c.1233T>A (p.Ile411=) c.627T>A (p.Ile209=) n.90+4625T>A | |
| 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= | |
| 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 | |
| 9 | g.137199498G= | CA1884351226 | TPRN | c.1214C= (p.Ala405=) c.608C= (p.Ala203=) n.90+4606C= | |
| 9 | g.137199498G>T | CA375777217 | TPRN | c.1214C>A (p.Ala405Asp) c.608C>A (p.Ala203Asp) n.90+4606C>A | gnomAD v4 |
| 9 | g.137199499C>A | CA375777222 | TPRN | c.1213G>T (p.Ala405Ser) c.607G>T (p.Ala203Ser) n.90+4605G>T | gnomAD v4 |
| 9 | g.137199499C>G | CA375777225 | TPRN | c.1213G>C (p.Ala405Pro) c.607G>C (p.Ala203Pro) n.90+4605G>C | |
| 9 | g.137199499C>T | CA375777227 | TPRN | c.1213G>A (p.Ala405Thr) c.607G>A (p.Ala203Thr) n.90+4605G>A | gnomAD v4 |
| 9 | g.137199500G>A | CA5362799 | TPRN | c.1212C>T (p.Thr404=) c.606C>T (p.Thr202=) n.90+4604C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199500G>C | CA467925046 | TPRN | c.1212C>G (p.Thr404=) c.606C>G (p.Thr202=) n.90+4604C>G | gnomAD v4 |
| 9 | g.137199500G= | CA1884351227 | TPRN | c.1212C= (p.Thr404=) c.606C= (p.Thr202=) n.90+4604C= | |
| 9 | g.137199500G>T | CA467925047 | TPRN | c.1212C>A (p.Thr404=) c.606C>A (p.Thr202=) n.90+4604C>A | gnomAD v4 |
| 9 | g.137199501G>A | CA375777230 | TPRN | c.1211C>T (p.Thr404Ile) c.605C>T (p.Thr202Ile) n.90+4603C>T | gnomAD v4 |
| 9 | g.137199501G>C | CA375777232 | TPRN | c.1211C>G (p.Thr404Ser) c.605C>G (p.Thr202Ser) n.90+4603C>G | |
| 9 | g.137199501G>T | CA375777233 | TPRN | c.1211C>A (p.Thr404Asn) c.605C>A (p.Thr202Asn) n.90+4603C>A | gnomAD v4 |
| 9 | g.137199502T>A | CA375777235 | TPRN | c.1210A>T (p.Thr404Ser) c.604A>T (p.Thr202Ser) n.90+4602A>T | |
| 9 | g.137199502T>C | CA375777237 | TPRN | c.1210A>G (p.Thr404Ala) c.604A>G (p.Thr202Ala) n.90+4602A>G | |
| 9 | g.137199502T>G | CA375777239 | TPRN | c.1210A>C (p.Thr404Pro) c.604A>C (p.Thr202Pro) n.90+4602A>C | |
| 9 | g.137199503G>A | CA467925048 | TPRN | c.1209C>T (p.Ala403=) c.603C>T (p.Ala201=) n.90+4601C>T | gnomAD v4 |
| 9 | g.137199503G>C | CA467925049 | TPRN | c.1209C>G (p.Ala403=) c.603C>G (p.Ala201=) n.90+4601C>G | |
| 9 | g.137199503G>T | CA467925050 | TPRN | c.1209C>A (p.Ala403=) c.603C>A (p.Ala201=) n.90+4601C>A | gnomAD v4 |
| 9 | g.137199504G>A | CA375777240 | TPRN | c.1208C>T (p.Ala403Val) c.602C>T (p.Ala201Val) n.90+4600C>T | gnomAD v4 |
| 9 | g.137199504G>C | CA375777242 | TPRN | c.1208C>G (p.Ala403Gly) c.602C>G (p.Ala201Gly) n.90+4600C>G | |
| 9 | g.137199504G= | CA1884351228 | TPRN | c.1208C= (p.Ala403=) c.602C= (p.Ala201=) n.90+4600C= | |
| 9 | g.137199504G>T | CA375777244 | TPRN | c.1208C>A (p.Ala403Asp) c.602C>A (p.Ala201Asp) n.90+4600C>A | dbSNP gnomAD v4 |
| 9 | g.137199505C>A | CA375777246 | TPRN | c.1207G>T (p.Ala403Ser) c.601G>T (p.Ala201Ser) n.90+4599G>T | gnomAD v4 |
| 9 | g.137199505C>G | CA375777248 | TPRN | c.1207G>C (p.Ala403Pro) c.601G>C (p.Ala201Pro) n.90+4599G>C | |
| 9 | g.137199505C>T | CA375777247 | TPRN | c.1207G>A (p.Ala403Thr) c.601G>A (p.Ala201Thr) n.90+4599G>A | gnomAD v4 |
| 9 | g.137199506T>A | CA467925051 | TPRN | c.1206A>T (p.Thr402=) c.600A>T (p.Thr200=) n.90+4598A>T | |
| 9 | g.137199506T>C | CA467925052 | TPRN | c.1206A>G (p.Thr402=) c.600A>G (p.Thr200=) n.90+4598A>G | |
| 9 | g.137199506T>G | CA467925053 | TPRN | c.1206A>C (p.Thr402=) c.600A>C (p.Thr200=) n.90+4598A>C | |
| 9 | g.137199507G>A | CA375777250 | TPRN | c.1205C>T (p.Thr402Ile) c.599C>T (p.Thr200Ile) n.90+4597C>T | dbSNP gnomAD v4 |
| 9 | g.137199507G>C | CA375777252 | TPRN | c.1205C>G (p.Thr402Arg) c.599C>G (p.Thr200Arg) n.90+4597C>G | |
| 9 | g.137199507G= | CA1884351229 | TPRN | c.1205C= (p.Thr402=) c.599C= (p.Thr200=) n.90+4597C= | |
| 9 | g.137199507G>T | CA5362800 | TPRN | c.1205C>A (p.Thr402Lys) c.599C>A (p.Thr200Lys) n.90+4597C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199508T>A | CA375777254 | TPRN | c.1204A>T (p.Thr402Ser) c.598A>T (p.Thr200Ser) n.90+4596A>T | |
| 9 | g.137199508T>C | CA375777255 | TPRN | c.1204A>G (p.Thr402Ala) c.598A>G (p.Thr200Ala) n.90+4596A>G | |
| 9 | g.137199508T>G | CA375777257 | TPRN | c.1204A>C (p.Thr402Pro) c.598A>C (p.Thr200Pro) n.90+4596A>C | |
| 9 | g.137199509C>A | CA375777262 | TPRN | c.1203G>T (p.Arg401Ser) c.597G>T (p.Arg199Ser) n.90+4595G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199509C= | CA1884351230 | TPRN | c.1203G= (p.Arg401=) c.597G= (p.Arg199=) n.90+4595G= | |
| 9 | g.137199509C>G | CA375777260 | TPRN | c.1203G>C (p.Arg401Ser) c.597G>C (p.Arg199Ser) n.90+4595G>C | |
| 9 | g.137199509C>T | CA467925054 | TPRN | c.1203G>A (p.Arg401=) c.597G>A (p.Arg199=) n.90+4595G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199510C>A | CA375777264 | TPRN | c.1202G>T (p.Arg401Met) c.596G>T (p.Arg199Met) n.90+4594G>T | gnomAD v4 |
| 9 | g.137199510C>G | CA375777265 | TPRN | c.1202G>C (p.Arg401Thr) c.596G>C (p.Arg199Thr) n.90+4594G>C | |
| 9 | g.137199510C>T | CA375777267 | TPRN | c.1202G>A (p.Arg401Lys) c.596G>A (p.Arg199Lys) n.90+4594G>A | COSMIC COSMIC |
| 9 | g.137199511T>A | CA375777269 | TPRN | c.1201A>T (p.Arg401Trp) c.595A>T (p.Arg199Trp) n.90+4593A>T | gnomAD v4 |
| 9 | g.137199511T>C | CA201721135 | TPRN | c.1201A>G (p.Arg401Gly) c.595A>G (p.Arg199Gly) n.90+4593A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199511T>G | CA467925055 | TPRN | c.1201A>C (p.Arg401=) c.595A>C (p.Arg199=) n.90+4593A>C | |
| 9 | g.137199511T= | CA1884351231 | TPRN | c.1201A= (p.Arg401=) c.595A= (p.Arg199=) n.90+4593A= | |
| 9 | g.137199512G>A | CA5362801 | TPRN | c.1200C>T (p.Pro400=) c.594C>T (p.Pro198=) n.90+4592C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199512G>C | CA467925056 | TPRN | c.1200C>G (p.Pro400=) c.594C>G (p.Pro198=) n.90+4592C>G | |
| 9 | g.137199512G= | CA1884351232 | TPRN | c.1200C= (p.Pro400=) c.594C= (p.Pro198=) n.90+4592C= | |
| 9 | g.137199512G>T | CA467925057 | TPRN | c.1200C>A (p.Pro400=) c.594C>A (p.Pro198=) n.90+4592C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199513G>A | CA375777273 | TPRN | c.1199C>T (p.Pro400Leu) c.593C>T (p.Pro198Leu) n.90+4591C>T | gnomAD v4 |
| 9 | g.137199513G>C | CA375777275 | TPRN | c.1199C>G (p.Pro400Arg) c.593C>G (p.Pro198Arg) n.90+4591C>G | |
| 9 | g.137199513G>T | CA375777274 | TPRN | c.1199C>A (p.Pro400His) c.593C>A (p.Pro198His) n.90+4591C>A | gnomAD v4 |
| 9 | g.137199514G>A | CA375777276 | TPRN | c.1198C>T (p.Pro400Ser) c.592C>T (p.Pro198Ser) n.90+4590C>T | gnomAD v4 |
| 9 | g.137199514G>C | CA375777277 | TPRN | c.1198C>G (p.Pro400Ala) c.592C>G (p.Pro198Ala) n.90+4590C>G | |
| 9 | g.137199514G>T | CA375777279 | TPRN | c.1198C>A (p.Pro400Thr) c.592C>A (p.Pro198Thr) n.90+4590C>A | gnomAD v4 |
| 9 | g.137199515A>C | CA375777281 | TPRN | c.1197T>G (p.Cys399Trp) c.591T>G (p.Cys197Trp) n.90+4589T>G | |
| 9 | g.137199515A>G | CA467925058 | TPRN | c.1197T>C (p.Cys399=) c.591T>C (p.Cys197=) n.90+4589T>C | gnomAD v4 |
| 9 | g.137199515A>T | CA375777282 | TPRN | c.1197T>A (p.Cys399Ter) c.591T>A (p.Cys197Ter) n.90+4589T>A | |
| 9 | g.137199516C>A | CA375777283 | TPRN | c.1196G>T (p.Cys399Phe) c.590G>T (p.Cys197Phe) n.90+4588G>T | |
| 9 | g.137199516C>G | CA375777285 | TPRN | c.1196G>C (p.Cys399Ser) c.590G>C (p.Cys197Ser) n.90+4588G>C | gnomAD v4 |
| 9 | g.137199516C>T | CA375777286 | TPRN | c.1196G>A (p.Cys399Tyr) c.590G>A (p.Cys197Tyr) n.90+4588G>A | |
| 9 | g.137199517A>C | CA375777287 | TPRN | c.1195T>G (p.Cys399Gly) c.589T>G (p.Cys197Gly) n.90+4587T>G | gnomAD v4 |
| 9 | g.137199517A>G | CA375777289 | TPRN | c.1195T>C (p.Cys399Arg) c.589T>C (p.Cys197Arg) n.90+4587T>C | gnomAD v4 |
| 9 | g.137199517A>T | CA375777291 | TPRN | c.1195T>A (p.Cys399Ser) c.589T>A (p.Cys197Ser) n.90+4587T>A | gnomAD v4 |
| 9 | g.137199518G>A | CA467925059 | TPRN | c.1194C>T (p.Ala398=) c.588C>T (p.Ala196=) n.90+4586C>T | dbSNP gnomAD v4 |
| 9 | g.137199518G>C | CA201721136 | TPRN | c.1194C>G (p.Ala398=) c.588C>G (p.Ala196=) n.90+4586C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199518G= | CA1884351233 | TPRN | c.1194C= (p.Ala398=) c.588C= (p.Ala196=) n.90+4586C= | |
| 9 | g.137199518G>T | CA467925060 | TPRN | c.1194C>A (p.Ala398=) c.588C>A (p.Ala196=) n.90+4586C>A | gnomAD v4 |
| 9 | g.137199519G>A | CA375777294 | TPRN | c.1193C>T (p.Ala398Val) c.587C>T (p.Ala196Val) n.90+4585C>T | gnomAD v4 |
| 9 | g.137199519G>C | CA375777295 | TPRN | c.1193C>G (p.Ala398Gly) c.587C>G (p.Ala196Gly) n.90+4585C>G | |
| 9 | g.137199519G>T | CA375777293 | TPRN | c.1193C>A (p.Ala398Asp) c.587C>A (p.Ala196Asp) n.90+4585C>A | gnomAD v4 |
| 9 | g.137199519_137199520delinsGC | CA1884351234 | TPRN | c.1192_1193delinsGC (p.Ala398=) c.586_587delinsGC (p.Ala196=) n.90+4584_90+4585delinsGC | |
| 9 | g.137199520C>A | CA375777299 | TPRN | c.1192G>T (p.Ala398Ser) c.586G>T (p.Ala196Ser) n.90+4584G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199520C= | CA1884351235 | TPRN | c.1192G= (p.Ala398=) c.586G= (p.Ala196=) n.90+4584G= | |
| 9 | g.137199520C>G | CA375777297 | TPRN | c.1192G>C (p.Ala398Pro) c.586G>C (p.Ala196Pro) n.90+4584G>C | |
| 9 | g.137199520C>T | CA375777300 | TPRN | c.1192G>A (p.Ala398Thr) c.586G>A (p.Ala196Thr) n.90+4584G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199524dup | CA2579529795 | TPRN | c.1192dup (p.Ala398GlyfsTer11) c.586dup (p.Ala196GlyfsTer11) n.90+4584dup | gnomAD v4 |
| 9 | g.137199524del | CA1130083167 | TPRN | c.1192del (p.Ala398ProfsTer?) c.586del (p.Ala196ProfsTer?) n.90+4584del | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199521C>A | CA467925061 | TPRN | c.1191G>T (p.Gly397=) c.585G>T (p.Gly195=) n.90+4583G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199521C= | CA1884351236 | TPRN | c.1191G= (p.Gly397=) c.585G= (p.Gly195=) n.90+4583G= | |
| 9 | g.137199521C>G | CA467925063 | TPRN | c.1191G>C (p.Gly397=) c.585G>C (p.Gly195=) n.90+4583G>C | |
| 9 | g.137199521C>T | CA467925062 | TPRN | c.1191G>A (p.Gly397=) c.585G>A (p.Gly195=) n.90+4583G>A | gnomAD v4 |
| 9 | g.137199522C>A | CA375777302 | TPRN | c.1190G>T (p.Gly397Val) c.584G>T (p.Gly195Val) n.90+4582G>T | gnomAD v4 |
| 9 | g.137199522C= | CA1884351237 | TPRN | c.1190G= (p.Gly397=) c.584G= (p.Gly195=) n.90+4582G= | |
| 9 | g.137199522C>G | CA375777303 | TPRN | c.1190G>C (p.Gly397Ala) c.584G>C (p.Gly195Ala) n.90+4582G>C | gnomAD v4 |
| 9 | g.137199522C>T | CA201721137 | TPRN | c.1190G>A (p.Gly397Glu) c.584G>A (p.Gly195Glu) n.90+4582G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199523C>A | CA201721139 | TPRN | c.1189G>T (p.Gly397Trp) c.583G>T (p.Gly195Trp) n.90+4581G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199523C= | CA1884351238 | TPRN | c.1189G= (p.Gly397=) c.583G= (p.Gly195=) n.90+4581G= | |
| 9 | g.137199523C>G | CA375777307 | TPRN | c.1189G>C (p.Gly397Arg) c.583G>C (p.Gly195Arg) n.90+4581G>C | |
| 9 | g.137199523C>T | CA375777306 | TPRN | c.1189G>A (p.Gly397Arg) c.583G>A (p.Gly195Arg) n.90+4581G>A | |
| 9 | g.137199524C>A | CA201721141 | TPRN | c.1188G>T (p.Glu396Asp) c.582G>T (p.Glu194Asp) n.90+4580G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199524C= | CA1884351239 | TPRN | c.1188G= (p.Glu396=) c.582G= (p.Glu194=) n.90+4580G= | |
| 9 | g.137199524C>G | CA375777308 | TPRN | c.1188G>C (p.Glu396Asp) c.582G>C (p.Glu194Asp) n.90+4580G>C | |
| 9 | g.137199524C>T | CA467925064 | TPRN | c.1188G>A (p.Glu396=) c.582G>A (p.Glu194=) n.90+4580G>A | |
| 9 | g.137199525T>A | CA375777309 | TPRN | c.1187A>T (p.Glu396Val) c.581A>T (p.Glu194Val) n.90+4579A>T | |
| 9 | g.137199525T>C | CA375777310 | TPRN | c.1187A>G (p.Glu396Gly) c.581A>G (p.Glu194Gly) n.90+4579A>G | gnomAD v4 |
| 9 | g.137199525T>G | CA375777312 | TPRN | c.1187A>C (p.Glu396Ala) c.581A>C (p.Glu194Ala) n.90+4579A>C | |
| 9 | g.137199526C>A | CA375777314 | TPRN | c.1186G>T (p.Glu396Ter) c.580G>T (p.Glu194Ter) n.90+4578G>T | gnomAD v4 |
| 9 | g.137199526C>G | CA375777315 | TPRN | c.1186G>C (p.Glu396Gln) c.580G>C (p.Glu194Gln) n.90+4578G>C | |
| 9 | g.137199526C>T | CA375777316 | TPRN | c.1186G>A (p.Glu396Lys) c.580G>A (p.Glu194Lys) n.90+4578G>A | gnomAD v4 |
| 9 | g.137199527C>A | CA375777317 | TPRN | c.1185G>T (p.Glu395Asp) c.579G>T (p.Glu193Asp) n.90+4577G>T | gnomAD v4 |
| 9 | g.137199527C>G | CA375777318 | TPRN | c.1185G>C (p.Glu395Asp) c.579G>C (p.Glu193Asp) n.90+4577G>C | |
| 9 | g.137199527C>T | CA467925065 | TPRN | c.1185G>A (p.Glu395=) c.579G>A (p.Glu193=) n.90+4577G>A | |
| 9 | g.137199528T>A | CA375777320 | TPRN | c.1184A>T (p.Glu395Val) c.578A>T (p.Glu193Val) n.90+4576A>T | |
| 9 | g.137199528T>C | CA375777322 | TPRN | c.1184A>G (p.Glu395Gly) c.578A>G (p.Glu193Gly) n.90+4576A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199528T>G | CA375777323 | TPRN | c.1184A>C (p.Glu395Ala) c.578A>C (p.Glu193Ala) n.90+4576A>C | |
| 9 | g.137199528T= | CA1884351240 | TPRN | c.1184A= (p.Glu395=) c.578A= (p.Glu193=) n.90+4576A= | |
| 9 | g.137199529C>A | CA375777326 | TPRN | c.1183G>T (p.Glu395Ter) c.577G>T (p.Glu193Ter) n.90+4575G>T | gnomAD v4 |
| 9 | g.137199529C= | CA1884351241 | TPRN | c.1183G= (p.Glu395=) c.577G= (p.Glu193=) n.90+4575G= | |
| 9 | g.137199529C>G | CA5362802 | TPRN | c.1183G>C (p.Glu395Gln) c.577G>C (p.Glu193Gln) n.90+4575G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199529C>T | CA375777324 | TPRN | c.1183G>A (p.Glu395Lys) c.577G>A (p.Glu193Lys) n.90+4575G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199530G>A | CA467925067 | TPRN | c.1182C>T (p.Val394=) c.576C>T (p.Val192=) n.90+4574C>T | gnomAD v4 |
| 9 | g.137199530G>C | CA467925068 | TPRN | c.1182C>G (p.Val394=) c.576C>G (p.Val192=) n.90+4574C>G | |
| 9 | g.137199530G>T | CA467925066 | TPRN | c.1182C>A (p.Val394=) c.576C>A (p.Val192=) n.90+4574C>A | gnomAD v4 |
| 9 | g.137199531A>C | CA375777328 | TPRN | c.1181T>G (p.Val394Gly) c.575T>G (p.Val192Gly) n.90+4573T>G | |
| 9 | g.137199531A>G | CA375777330 | TPRN | c.1181T>C (p.Val394Ala) c.575T>C (p.Val192Ala) n.90+4573T>C | gnomAD v4 |
| 9 | g.137199531A>T | CA375777331 | TPRN | c.1181T>A (p.Val394Asp) c.575T>A (p.Val192Asp) n.90+4573T>A | |
| 9 | g.137199532C>A | CA375777332 | TPRN | c.1180G>T (p.Val394Phe) c.574G>T (p.Val192Phe) n.90+4572G>T | gnomAD v4 |
| 9 | g.137199532C>G | CA375777334 | TPRN | c.1180G>C (p.Val394Leu) c.574G>C (p.Val192Leu) n.90+4572G>C | |
| 9 | g.137199532C>T | CA375777336 | TPRN | c.1180G>A (p.Val394Ile) c.574G>A (p.Val192Ile) n.90+4572G>A | gnomAD v4 |
| 9 | g.137199533T>A | CA467925069 | TPRN | c.1179A>T (p.Ala393=) c.573A>T (p.Ala191=) n.90+4571A>T | |
| 9 | g.137199533T>C | CA467925070 | TPRN | c.1179A>G (p.Ala393=) c.573A>G (p.Ala191=) n.90+4571A>G | gnomAD v4 |
| 9 | g.137199533T>G | CA467925071 | TPRN | c.1179A>C (p.Ala393=) c.573A>C (p.Ala191=) n.90+4571A>C | |
| 9 | g.137199534G>A | CA375777337 | TPRN | c.1178C>T (p.Ala393Val) c.572C>T (p.Ala191Val) n.90+4570C>T | gnomAD v4 |
| 9 | g.137199534G>C | CA375777339 | TPRN | c.1178C>G (p.Ala393Gly) c.572C>G (p.Ala191Gly) n.90+4570C>G | |
| 9 | g.137199534G>T | CA375777340 | TPRN | c.1178C>A (p.Ala393Glu) c.572C>A (p.Ala191Glu) n.90+4570C>A | gnomAD v4 |
| 9 | g.137199535C>A | CA375777342 | TPRN | c.1177G>T (p.Ala393Ser) c.571G>T (p.Ala191Ser) n.90+4569G>T | |
| 9 | g.137199535C= | CA1884351242 | TPRN | c.1177G= (p.Ala393=) c.571G= (p.Ala191=) n.90+4569G= | |
| 9 | g.137199535C>G | CA375777344 | TPRN | c.1177G>C (p.Ala393Pro) c.571G>C (p.Ala191Pro) n.90+4569G>C | |
| 9 | g.137199535C>T | CA5362803 | TPRN | c.1177G>A (p.Ala393Thr) c.571G>A (p.Ala191Thr) n.90+4569G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199536C>A | CA375777346 | TPRN | c.1176G>T (p.Trp392Cys) c.570G>T (p.Trp190Cys) n.90+4568G>T | dbSNP gnomAD v4 |
| 9 | g.137199536C= | CA1884351243 | TPRN | c.1176G= (p.Trp392=) c.570G= (p.Trp190=) n.90+4568G= | |
| 9 | g.137199536C>G | CA375777349 | TPRN | c.1176G>C (p.Trp392Cys) c.570G>C (p.Trp190Cys) n.90+4568G>C | dbSNP gnomAD v2 |
| 9 | g.137199536C>T | CA375777347 | TPRN | c.1176G>A (p.Trp392Ter) c.570G>A (p.Trp190Ter) n.90+4568G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199537C>A | CA375777351 | TPRN | c.1175G>T (p.Trp392Leu) c.569G>T (p.Trp190Leu) n.90+4567G>T | gnomAD v4 |
| 9 | g.137199537C= | CA1884351244 | TPRN | c.1175G= (p.Trp392=) c.569G= (p.Trp190=) n.90+4567G= | |
| 9 | g.137199537C>G | CA5362804 | TPRN | c.1175G>C (p.Trp392Ser) c.569G>C (p.Trp190Ser) n.90+4567G>C | dbSNP ExAC gnomAD v2 |
| 9 | g.137199537C>T | CA375777353 | TPRN | c.1175G>A (p.Trp392Ter) c.569G>A (p.Trp190Ter) n.90+4567G>A | |
| 9 | g.137199538A>C | CA375777355 | TPRN | c.1174T>G (p.Trp392Gly) c.568T>G (p.Trp190Gly) n.90+4566T>G | dbSNP |
| 9 | g.137199538A>G | CA375777357 | TPRN | c.1174T>C (p.Trp392Arg) c.568T>C (p.Trp190Arg) n.90+4566T>C | gnomAD v4 |
| 9 | g.137199538A>T | CA375777358 | TPRN | c.1174T>A (p.Trp392Arg) c.568T>A (p.Trp190Arg) n.90+4566T>A | |
| 9 | g.137199539C>A | CA375777359 | TPRN | c.1173G>T (p.Gln391His) c.567G>T (p.Gln189His) n.90+4565G>T | gnomAD v4 |
| 9 | g.137199539C>G | CA375777360 | TPRN | c.1173G>C (p.Gln391His) c.567G>C (p.Gln189His) n.90+4565G>C | |
| 9 | g.137199539C>T | CA467925072 | TPRN | c.1173G>A (p.Gln391=) c.567G>A (p.Gln189=) n.90+4565G>A | gnomAD v4 |
| 9 | g.137199540T>A | CA375777361 | TPRN | c.1172A>T (p.Gln391Leu) c.566A>T (p.Gln189Leu) n.90+4564A>T | |
| 9 | g.137199540T>C | CA375777362 | TPRN | c.1172A>G (p.Gln391Arg) c.566A>G (p.Gln189Arg) n.90+4564A>G | gnomAD v4 |
| 9 | g.137199540T>G | CA375777363 | TPRN | c.1172A>C (p.Gln391Pro) c.566A>C (p.Gln189Pro) n.90+4564A>C | gnomAD v4 |
| 9 | g.137199541G>A | CA375777368 | TPRN | c.1171C>T (p.Gln391Ter) c.565C>T (p.Gln189Ter) n.90+4563C>T | dbSNP |
| 9 | g.137199541G>C | CA375777366 | TPRN | c.1171C>G (p.Gln391Glu) c.565C>G (p.Gln189Glu) n.90+4563C>G | |
| 9 | g.137199541G= | CA1884351245 | TPRN | c.1171C= (p.Gln391=) c.565C= (p.Gln189=) n.90+4563C= | |
| 9 | g.137199541G>T | CA375777365 | TPRN | c.1171C>A (p.Gln391Lys) c.565C>A (p.Gln189Lys) n.90+4563C>A | gnomAD v4 |
| 9 | g.137199542T>A | CA467925073 | TPRN | c.1170A>T (p.Ala390=) c.564A>T (p.Ala188=) n.90+4562A>T | |
| 9 | g.137199542T>C | CA467925075 | TPRN | c.1170A>G (p.Ala390=) c.564A>G (p.Ala188=) n.90+4562A>G | |
| 9 | g.137199542T>G | CA467925074 | TPRN | c.1170A>C (p.Ala390=) c.564A>C (p.Ala188=) n.90+4562A>C | |
| 9 | g.137199543G>A | CA375777370 | TPRN | c.1169C>T (p.Ala390Val) c.563C>T (p.Ala188Val) n.90+4561C>T | gnomAD v4 |
| 9 | g.137199543G>C | CA375777371 | TPRN | c.1169C>G (p.Ala390Gly) c.563C>G (p.Ala188Gly) n.90+4561C>G | |
| 9 | g.137199543G>T | CA375777373 | TPRN | c.1169C>A (p.Ala390Glu) c.563C>A (p.Ala188Glu) n.90+4561C>A | gnomAD v4 |
| 9 | g.137199544C>A | CA375777374 | TPRN | c.1168G>T (p.Ala390Ser) c.562G>T (p.Ala188Ser) n.90+4560G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199544C= | CA1884351246 | TPRN | c.1168G= (p.Ala390=) c.562G= (p.Ala188=) n.90+4560G= | |
| 9 | g.137199544C>G | CA375777375 | TPRN | c.1168G>C (p.Ala390Pro) c.562G>C (p.Ala188Pro) n.90+4560G>C | |
| 9 | g.137199544C>T | CA375777377 | TPRN | c.1168G>A (p.Ala390Thr) c.562G>A (p.Ala188Thr) n.90+4560G>A | gnomAD v4 |
| 9 | g.137199545C>A | CA375777379 | TPRN | c.1167G>T (p.Glu389Asp) c.561G>T (p.Glu187Asp) n.90+4559G>T | gnomAD v4 |
| 9 | g.137199545C>G | CA375777380 | TPRN | c.1167G>C (p.Glu389Asp) c.561G>C (p.Glu187Asp) n.90+4559G>C | |
| 9 | g.137199545C>T | CA467925076 | TPRN | c.1167G>A (p.Glu389=) c.561G>A (p.Glu187=) n.90+4559G>A | gnomAD v4 |
| 9 | g.137199546T>A | CA375777382 | TPRN | c.1166A>T (p.Glu389Val) c.560A>T (p.Glu187Val) n.90+4558A>T | |
| 9 | g.137199546T>C | CA375777384 | TPRN | c.1166A>G (p.Glu389Gly) c.560A>G (p.Glu187Gly) n.90+4558A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199546T>G | CA375777386 | TPRN | c.1166A>C (p.Glu389Ala) c.560A>C (p.Glu187Ala) n.90+4558A>C | |
| 9 | g.137199546T= | CA1884351247 | TPRN | c.1166A= (p.Glu389=) c.560A= (p.Glu187=) n.90+4558A= | |
| 9 | g.137199547del | CA2692798552 | TPRN | c.1165del (p.Glu389ArgfsTer?) c.559del (p.Glu187ArgfsTer?) n.90+4557del | gnomAD v4 |
| 9 | g.137199547C>A | CA375777391 | TPRN | c.1165G>T (p.Glu389Ter) c.559G>T (p.Glu187Ter) n.90+4557G>T | dbSNP gnomAD v4 |
| 9 | g.137199547C= | CA1884351248 | TPRN | c.1165G= (p.Glu389=) c.559G= (p.Glu187=) n.90+4557G= | |
| 9 | g.137199547C>G | CA375777388 | TPRN | c.1165G>C (p.Glu389Gln) c.559G>C (p.Glu187Gln) n.90+4557G>C | gnomAD v4 |
| 9 | g.137199547C>T | CA375777387 | TPRN | c.1165G>A (p.Glu389Lys) c.559G>A (p.Glu187Lys) n.90+4557G>A | gnomAD v4 |
| 9 | g.137199548G>A | CA467925077 | TPRN | c.1164C>T (p.Val388=) c.558C>T (p.Val186=) n.90+4556C>T | dbSNP gnomAD v4 |
| 9 | g.137199548G>C | CA467925078 | TPRN | c.1164C>G (p.Val388=) c.558C>G (p.Val186=) n.90+4556C>G | |
| 9 | g.137199548G= | CA1884351249 | TPRN | c.1164C= (p.Val388=) c.558C= (p.Val186=) n.90+4556C= | |
| 9 | g.137199548G>T | CA467925079 | TPRN | c.1164C>A (p.Val388=) c.558C>A (p.Val186=) n.90+4556C>A | gnomAD v4 |
| 9 | g.137199549A= | CA1884351250 | TPRN | c.1163T= (p.Val388=) c.557T= (p.Val186=) n.90+4555T= | |
| 9 | g.137199549A>C | CA375777392 | TPRN | c.1163T>G (p.Val388Gly) c.557T>G (p.Val186Gly) n.90+4555T>G | gnomAD v4 |
| 9 | g.137199549A>G | CA5362805 | TPRN | c.1163T>C (p.Val388Ala) c.557T>C (p.Val186Ala) n.90+4555T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199549A>T | CA375777394 | TPRN | c.1163T>A (p.Val388Asp) c.557T>A (p.Val186Asp) n.90+4555T>A | |
| 9 | g.137199550C>A | CA375777396 | TPRN | c.1162G>T (p.Val388Phe) c.556G>T (p.Val186Phe) n.90+4554G>T | dbSNP gnomAD v4 |
| 9 | g.137199550C= | CA1884351251 | TPRN | c.1162G= (p.Val388=) c.556G= (p.Val186=) n.90+4554G= | |
| 9 | g.137199550C>G | CA375777398 | TPRN | c.1162G>C (p.Val388Leu) c.556G>C (p.Val186Leu) n.90+4554G>C | |
| 9 | g.137199550C>T | CA375777399 | TPRN | c.1162G>A (p.Val388Ile) c.556G>A (p.Val186Ile) n.90+4554G>A | gnomAD v4 |
| 9 | g.137199551C>A | CA375777403 | TPRN | c.1161G>T (p.Glu387Asp) c.555G>T (p.Glu185Asp) n.90+4553G>T | |
| 9 | g.137199551C= | CA1884351252 | TPRN | c.1161G= (p.Glu387=) c.555G= (p.Glu185=) n.90+4553G= | |
| 9 | g.137199551C>G | CA375777402 | TPRN | c.1161G>C (p.Glu387Asp) c.555G>C (p.Glu185Asp) n.90+4553G>C | |
| 9 | g.137199551C>T | CA201721146 | TPRN | c.1161G>A (p.Glu387=) c.555G>A (p.Glu185=) n.90+4553G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199552T>A | CA375777405 | TPRN | c.1160A>T (p.Glu387Val) c.554A>T (p.Glu185Val) n.90+4552A>T | |
| 9 | g.137199552T>C | CA375777406 | TPRN | c.1160A>G (p.Glu387Gly) c.554A>G (p.Glu185Gly) n.90+4552A>G | gnomAD v4 |
| 9 | g.137199552T>G | CA375777408 | TPRN | c.1160A>C (p.Glu387Ala) c.554A>C (p.Glu185Ala) n.90+4552A>C | |
| 9 | g.137199553C>A | CA375777411 | TPRN | c.1159G>T (p.Glu387Ter) c.553G>T (p.Glu185Ter) n.90+4551G>T | ClinVar dbSNP |
| 9 | g.137199553C= | CA1884351253 | TPRN | c.1159G= (p.Glu387=) c.553G= (p.Glu185=) n.90+4551G= | |
| 9 | g.137199553C>G | CA375777413 | TPRN | c.1159G>C (p.Glu387Gln) c.553G>C (p.Glu185Gln) n.90+4551G>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.137199553C>T | CA375777414 | TPRN | c.1159G>A (p.Glu387Lys) c.553G>A (p.Glu185Lys) n.90+4551G>A | gnomAD v4 |
| 9 | g.137199554C>A | CA467925080 | TPRN | c.1158G>T (p.Leu386=) c.552G>T (p.Leu184=) n.90+4550G>T | |
| 9 | g.137199554C>G | CA467925081 | TPRN | c.1158G>C (p.Leu386=) c.552G>C (p.Leu184=) n.90+4550G>C | |
| 9 | g.137199554C>T | CA467925082 | TPRN | c.1158G>A (p.Leu386=) c.552G>A (p.Leu184=) n.90+4550G>A | |
| 9 | g.137199555A= | CA1884351254 | TPRN | c.1157T= (p.Leu386=) c.551T= (p.Leu184=) n.90+4549T= | |
| 9 | g.137199555A>C | CA375777416 | TPRN | c.1157T>G (p.Leu386Arg) c.551T>G (p.Leu184Arg) n.90+4549T>G | |
| 9 | g.137199555A>G | CA375777419 | TPRN | c.1157T>C (p.Leu386Pro) c.551T>C (p.Leu184Pro) n.90+4549T>C | dbSNP gnomAD v2 |
| 9 | g.137199555A>T | CA375777417 | TPRN | c.1157T>A (p.Leu386Gln) c.551T>A (p.Leu184Gln) n.90+4549T>A | |
| 9 | g.137199556G>A | CA5362806 | TPRN | c.1156C>T (p.Leu386=) c.550C>T (p.Leu184=) n.90+4548C>T | dbSNP ExAC gnomAD v4 |
| 9 | g.137199556G>C | CA375777421 | TPRN | c.1156C>G (p.Leu386Val) c.550C>G (p.Leu184Val) n.90+4548C>G | |
| 9 | g.137199556G= | CA1884351255 | TPRN | c.1156C= (p.Leu386=) c.550C= (p.Leu184=) n.90+4548C= | |
| 9 | g.137199556G>T | CA375777422 | TPRN | c.1156C>A (p.Leu386Met) c.550C>A (p.Leu184Met) n.90+4548C>A | gnomAD v4 |
| 9 | g.137199560del | CA2692798553 | TPRN | c.1156del (p.Leu386TrpfsTer?) c.550del (p.Leu184TrpfsTer?) n.90+4548del | gnomAD v4 |
| 9 | g.137199557G>A | CA201721149 | TPRN | c.1155C>T (p.Pro385=) c.549C>T (p.Pro183=) n.90+4547C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199557G>C | CA467925083 | TPRN | c.1155C>G (p.Pro385=) c.549C>G (p.Pro183=) n.90+4547C>G | gnomAD v4 |
| 9 | g.137199557G= | CA1884351256 | TPRN | c.1155C= (p.Pro385=) c.549C= (p.Pro183=) n.90+4547C= | |
| 9 | g.137199557G>T | CA467925084 | TPRN | c.1155C>A (p.Pro385=) c.549C>A (p.Pro183=) n.90+4547C>A | |
| 9 | g.137199558G>A | CA375777424 | TPRN | c.1154C>T (p.Pro385Leu) c.548C>T (p.Pro183Leu) n.90+4546C>T | |
| 9 | g.137199558G>C | CA375777426 | TPRN | c.1154C>G (p.Pro385Arg) c.548C>G (p.Pro183Arg) n.90+4546C>G | |
| 9 | g.137199558G>T | CA375777427 | TPRN | c.1154C>A (p.Pro385His) c.548C>A (p.Pro183His) n.90+4546C>A | gnomAD v4 |
| 9 | g.137199559G>A | CA375777429 | TPRN | c.1153C>T (p.Pro385Ser) c.547C>T (p.Pro183Ser) n.90+4545C>T | gnomAD v4 |
| 9 | g.137199559G>C | CA375777430 | TPRN | c.1153C>G (p.Pro385Ala) c.547C>G (p.Pro183Ala) n.90+4545C>G | gnomAD v4 |
| 9 | g.137199559G= | CA1884351257 | TPRN | c.1153C= (p.Pro385=) c.547C= (p.Pro183=) n.90+4545C= | |
| 9 | g.137199559G>T | CA5362807 | TPRN | c.1153C>A (p.Pro385Thr) c.547C>A (p.Pro183Thr) n.90+4545C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199560G>A | CA467925085 | TPRN | c.1152C>T (p.Ser384=) c.546C>T (p.Ser182=) n.90+4544C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199560G>C | CA5362808 | TPRN | c.1152C>G (p.Ser384Arg) c.546C>G (p.Ser182Arg) n.90+4544C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199560G= | CA1884351258 | TPRN | c.1152C= (p.Ser384=) c.546C= (p.Ser182=) n.90+4544C= | |
| 9 | g.137199560G>T | CA375777433 | TPRN | c.1152C>A (p.Ser384Arg) c.546C>A (p.Ser182Arg) n.90+4544C>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199561C>A | CA375777435 | TPRN | c.1151G>T (p.Ser384Ile) c.545G>T (p.Ser182Ile) n.90+4543G>T | gnomAD v4 |
| 9 | g.137199561C>G | CA375777439 | TPRN | c.1151G>C (p.Ser384Thr) c.545G>C (p.Ser182Thr) n.90+4543G>C | |
| 9 | g.137199561C>T | CA375777437 | TPRN | c.1151G>A (p.Ser384Asn) c.545G>A (p.Ser182Asn) n.90+4543G>A | |
| 9 | g.137199562T>A | CA375777441 | TPRN | c.1150A>T (p.Ser384Cys) c.544A>T (p.Ser182Cys) n.90+4542A>T | |
| 9 | g.137199562T>C | CA375777444 | TPRN | c.1150A>G (p.Ser384Gly) c.544A>G (p.Ser182Gly) n.90+4542A>G | |
| 9 | g.137199562T>G | CA375777447 | TPRN | c.1150A>C (p.Ser384Arg) c.544A>C (p.Ser182Arg) n.90+4542A>C | |
| 9 | g.137199563C>A | CA375777450 | TPRN | c.1149G>T (p.Lys383Asn) c.543G>T (p.Lys181Asn) n.90+4541G>T | gnomAD v4 |
| 9 | g.137199563C>G | CA375777452 | TPRN | c.1149G>C (p.Lys383Asn) c.543G>C (p.Lys181Asn) n.90+4541G>C | |
| 9 | g.137199563C>T | CA467925093 | TPRN | c.1149G>A (p.Lys383=) c.543G>A (p.Lys181=) n.90+4541G>A | gnomAD v4 |
| 9 | g.137199564T>A | CA375777454 | TPRN | c.1148A>T (p.Lys383Met) c.542A>T (p.Lys181Met) n.90+4540A>T | |
| 9 | g.137199564T>C | CA375777456 | TPRN | c.1148A>G (p.Lys383Arg) c.542A>G (p.Lys181Arg) n.90+4540A>G | ClinVar dbSNP |
| 9 | g.137199564T>G | CA375777459 | TPRN | c.1148A>C (p.Lys383Thr) c.542A>C (p.Lys181Thr) n.90+4540A>C | |
| 9 | g.137199564T= | CA1884351259 | TPRN | c.1148A= (p.Lys383=) c.542A= (p.Lys181=) n.90+4540A= | |
| 9 | g.137199565T>A | CA375777461 | TPRN | c.1147A>T (p.Lys383Ter) c.541A>T (p.Lys181Ter) n.90+4539A>T | |
| 9 | g.137199565T>C | CA375777463 | TPRN | c.1147A>G (p.Lys383Glu) c.541A>G (p.Lys181Glu) n.90+4539A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199565T>G | CA375777465 | TPRN | c.1147A>C (p.Lys383Gln) c.541A>C (p.Lys181Gln) n.90+4539A>C | |
| 9 | g.137199565T= | CA1884351260 | TPRN | c.1147A= (p.Lys383=) c.541A= (p.Lys181=) n.90+4539A= | |
| 9 | g.137199566C>A | CA467925103 | TPRN | c.1146G>T (p.Gly382=) c.540G>T (p.Gly180=) n.90+4538G>T | gnomAD v4 |
| 9 | g.137199566C>G | CA467925104 | TPRN | c.1146G>C (p.Gly382=) c.540G>C (p.Gly180=) n.90+4538G>C | gnomAD v4 |
| 9 | g.137199566C>T | CA467925106 | TPRN | c.1146G>A (p.Gly382=) c.540G>A (p.Gly180=) n.90+4538G>A | |
| 9 | g.137199567C>A | CA375777471 | TPRN | c.1145G>T (p.Gly382Val) c.539G>T (p.Gly180Val) n.90+4537G>T | gnomAD v4 |
| 9 | g.137199567C= | CA1884351261 | TPRN | c.1145G= (p.Gly382=) c.539G= (p.Gly180=) n.90+4537G= | |
| 9 | g.137199567C>G | CA375777469 | TPRN | c.1145G>C (p.Gly382Ala) c.539G>C (p.Gly180Ala) n.90+4537G>C | |
| 9 | g.137199567C>T | CA375777467 | TPRN | c.1145G>A (p.Gly382Glu) c.539G>A (p.Gly180Glu) n.90+4537G>A | dbSNP |
| 9 | g.137199568C>A | CA375777474 | TPRN | c.1144G>T (p.Gly382Trp) c.538G>T (p.Gly180Trp) n.90+4536G>T | gnomAD v4 |
| 9 | g.137199568C= | CA1884351262 | TPRN | c.1144G= (p.Gly382=) c.538G= (p.Gly180=) n.90+4536G= | |
| 9 | g.137199568C>G | CA375777476 | TPRN | c.1144G>C (p.Gly382Arg) c.538G>C (p.Gly180Arg) n.90+4536G>C | gnomAD v4 |
| 9 | g.137199568C>T | CA375777477 | TPRN | c.1144G>A (p.Gly382Arg) c.538G>A (p.Gly180Arg) n.90+4536G>A | dbSNP gnomAD v4 |
| 9 | g.137199569G>A | CA201721153 | TPRN | c.1143C>T (p.Leu381=) c.537C>T (p.Leu179=) n.90+4535C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199569G>C | CA467925110 | TPRN | c.1143C>G (p.Leu381=) c.537C>G (p.Leu179=) n.90+4535C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199569G= | CA1884351263 | TPRN | c.1143C= (p.Leu381=) c.537C= (p.Leu179=) n.90+4535C= | |
| 9 | g.137199569G>T | CA467925111 | TPRN | c.1143C>A (p.Leu381=) c.537C>A (p.Leu179=) n.90+4535C>A | gnomAD v4 |
| 9 | g.137199570A= | CA1884351264 | TPRN | c.1142T= (p.Leu381=) c.536T= (p.Leu179=) n.90+4534T= | |
| 9 | g.137199570A>C | CA375777480 | TPRN | c.1142T>G (p.Leu381Arg) c.536T>G (p.Leu179Arg) n.90+4534T>G | |
| 9 | g.137199570A>G | CA375777482 | TPRN | c.1142T>C (p.Leu381Pro) c.536T>C (p.Leu179Pro) n.90+4534T>C | |
| 9 | g.137199570A>T | CA375777486 | TPRN | c.1142T>A (p.Leu381His) c.536T>A (p.Leu179His) n.90+4534T>A | |
| 9 | g.137199571G>A | CA5362809 | TPRN | c.1141C>T (p.Leu381Phe) c.535C>T (p.Leu179Phe) n.90+4533C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199571G>C | CA375777491 | TPRN | c.1141C>G (p.Leu381Val) c.535C>G (p.Leu179Val) n.90+4533C>G | |
| 9 | g.137199571G= | CA1884351265 | TPRN | c.1141C= (p.Leu381=) c.535C= (p.Leu179=) n.90+4533C= | |
| 9 | g.137199571G>T | CA375777494 | TPRN | c.1141C>A (p.Leu381Ile) c.535C>A (p.Leu179Ile) n.90+4533C>A | gnomAD v4 |
| 9 | g.137199573dup | CA591373049 | TPRN | c.1141dup (p.Leu381ProfsTer28) c.535dup (p.Leu179ProfsTer28) n.90+4533dup | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199572G>A | CA467925114 | TPRN | c.1140C>T (p.Ala380=) c.534C>T (p.Ala178=) n.90+4532C>T | |
| 9 | g.137199572G>C | CA467925117 | TPRN | c.1140C>G (p.Ala380=) c.534C>G (p.Ala178=) n.90+4532C>G | |
| 9 | g.137199572G>T | CA467925116 | TPRN | c.1140C>A (p.Ala380=) c.534C>A (p.Ala178=) n.90+4532C>A | gnomAD v4 |
| 9 | g.137199573G>A | CA375777496 | TPRN | c.1139C>T (p.Ala380Val) c.533C>T (p.Ala178Val) n.90+4531C>T | gnomAD v4 |
| 9 | g.137199573G>C | CA375777498 | TPRN | c.1139C>G (p.Ala380Gly) c.533C>G (p.Ala178Gly) n.90+4531C>G | |
| 9 | g.137199573G>T | CA375777500 | TPRN | c.1139C>A (p.Ala380Asp) c.533C>A (p.Ala178Asp) n.90+4531C>A | gnomAD v4 |
| 9 | g.137199574C>A | CA200384 | TPRN | c.1138G>T (p.Ala380Ser) c.532G>T (p.Ala178Ser) n.90+4530G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199574C= | CA1884351266 | TPRN | c.1138G= (p.Ala380=) c.532G= (p.Ala178=) n.90+4530G= | |
| 9 | g.137199574C>G | CA375777505 | TPRN | c.1138G>C (p.Ala380Pro) c.532G>C (p.Ala178Pro) n.90+4530G>C | |
| 9 | g.137199574C>T | CA5362810 | TPRN | c.1138G>A (p.Ala380Thr) c.532G>A (p.Ala178Thr) n.90+4530G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199574dup | CA2786297335 | TPRN | c.1138dup (p.Ala380GlyfsTer29) c.532dup (p.Ala178GlyfsTer29) n.90+4530dup |