| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137199473C>A | CA375777127 | TPRN | c.1239G>T (p.Trp413Cys) c.633G>T (p.Trp211Cys) n.90+4631G>T | gnomAD v4 |
| 9 | g.137199473C= | CA1884351210 | TPRN | c.1239G= (p.Trp413=) c.633G= (p.Trp211=) n.90+4631G= | |
| 9 | g.137199473C>G | CA375777128 | TPRN | c.1239G>C (p.Trp413Cys) c.633G>C (p.Trp211Cys) n.90+4631G>C | |
| 9 | g.137199473C>T | CA113906 | TPRN | c.1239G>A (p.Trp413Ter) c.633G>A (p.Trp211Ter) n.90+4631G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 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 |