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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137199428_137199430del | CA2692798511 | TPRN | c.1286_1288del (p.Glu429del) c.680_682del (p.Glu227del) n.90+4678_90+4680del | gnomAD v4 |
| 9 | g.137199429T>A | CA375776934 | TPRN | c.1283A>T (p.Glu428Val) c.677A>T (p.Glu226Val) n.90+4675A>T | |
| 9 | g.137199429T>C | CA375776932 | TPRN | c.1283A>G (p.Glu428Gly) c.677A>G (p.Glu226Gly) n.90+4675A>G | |
| 9 | g.137199429T>G | CA375776930 | TPRN | c.1283A>C (p.Glu428Ala) c.677A>C (p.Glu226Ala) n.90+4675A>C | |
| 9 | g.137199429T= | CA1884351182 | TPRN | c.1283A= (p.Glu428=) c.677A= (p.Glu226=) n.90+4675A= | |
| 9 | g.137199430C>A | CA375776936 | TPRN | c.1282G>T (p.Glu428Ter) c.676G>T (p.Glu226Ter) n.90+4674G>T | gnomAD v4 |
| 9 | g.137199430C>G | CA375776938 | TPRN | c.1282G>C (p.Glu428Gln) c.676G>C (p.Glu226Gln) n.90+4674G>C | |
| 9 | g.137199430C>T | CA375776939 | TPRN | c.1282G>A (p.Glu428Lys) c.676G>A (p.Glu226Lys) n.90+4674G>A | gnomAD v4 |
| 9 | g.137199433_137199441dup | CA591373025 | TPRN | c.1274_1282dup (p.Ser427_Glu428insAlaAlaSer) c.668_676dup (p.Ser225_Glu226insAlaAlaSer) n.90+4666_90+4674dup | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199431C>A | CA467924996 | TPRN | c.1281G>T (p.Ser427=) c.675G>T (p.Ser225=) n.90+4673G>T | dbSNP |
| 9 | g.137199431C= | CA1884351183 | TPRN | c.1281G= (p.Ser427=) c.675G= (p.Ser225=) n.90+4673G= | |
| 9 | g.137199431C>G | CA201721090 | TPRN | c.1281G>C (p.Ser427=) c.675G>C (p.Ser225=) n.90+4673G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199431C>T | CA201721091 | TPRN | c.1281G>A (p.Ser427=) c.675G>A (p.Ser225=) n.90+4673G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199432G>A | CA5362774 | TPRN | c.1280C>T (p.Ser427Leu) c.674C>T (p.Ser225Leu) n.90+4672C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199432G>C | CA5362775 | TPRN | c.1280C>G (p.Ser427Trp) c.674C>G (p.Ser225Trp) n.90+4672C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199432G= | CA1884351184 | TPRN | c.1280C= (p.Ser427=) c.674C= (p.Ser225=) n.90+4672C= | |
| 9 | g.137199432G>T | CA375776942 | TPRN | c.1280C>A (p.Ser427Ter) c.674C>A (p.Ser225Ter) n.90+4672C>A | |
| 9 | g.137199433A= | CA1884351185 | TPRN | c.1279T= (p.Ser427=) c.673T= (p.Ser225=) n.90+4671T= | |
| 9 | g.137199433A>C | CA5362776 | TPRN | c.1279T>G (p.Ser427Ala) c.673T>G (p.Ser225Ala) n.90+4671T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199433A>G | CA375776943 | TPRN | c.1279T>C (p.Ser427Pro) c.673T>C (p.Ser225Pro) n.90+4671T>C | |
| 9 | g.137199433A>T | CA375776944 | TPRN | c.1279T>A (p.Ser427Thr) c.673T>A (p.Ser225Thr) n.90+4671T>A | |
| 9 | g.137199434A>C | CA467924997 | TPRN | c.1278T>G (p.Ala426=) c.672T>G (p.Ala224=) n.90+4670T>G | |
| 9 | g.137199434A>G | CA467924998 | TPRN | c.1278T>C (p.Ala426=) c.672T>C (p.Ala224=) n.90+4670T>C | |
| 9 | g.137199434A>T | CA467924999 | TPRN | c.1278T>A (p.Ala426=) c.672T>A (p.Ala224=) n.90+4670T>A | |
| 9 | g.137199437_137199439dup | CA2720959948 | TPRN | c.1276_1278dup (p.Ala426_Ser427insAla) c.670_672dup (p.Ala224_Ser225insAla) n.90+4668_90+4670dup | dbSNP |
| 9 | g.137199435G>A | CA5362777 | TPRN | c.1277C>T (p.Ala426Val) c.671C>T (p.Ala224Val) n.90+4669C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199435G>C | CA375776946 | TPRN | c.1277C>G (p.Ala426Gly) c.671C>G (p.Ala224Gly) n.90+4669C>G | dbSNP |
| 9 | g.137199435G= | CA1884351186 | TPRN | c.1277C= (p.Ala426=) c.671C= (p.Ala224=) n.90+4669C= | |
| 9 | g.137199435G>T | CA375776948 | TPRN | c.1277C>A (p.Ala426Asp) c.671C>A (p.Ala224Asp) n.90+4669C>A | gnomAD v4 |
| 9 | g.137199436C>A | CA375776956 | TPRN | c.1276G>T (p.Ala426Ser) c.670G>T (p.Ala224Ser) n.90+4668G>T | |
| 9 | g.137199436C= | CA1884351187 | TPRN | c.1276G= (p.Ala426=) c.670G= (p.Ala224=) n.90+4668G= | |
| 9 | g.137199436C>G | CA375776954 | TPRN | c.1276G>C (p.Ala426Pro) c.670G>C (p.Ala224Pro) n.90+4668G>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199436C>T | CA375776953 | TPRN | c.1276G>A (p.Ala426Thr) c.670G>A (p.Ala224Thr) n.90+4668G>A | |
| 9 | g.137199437A= | CA1884351188 | TPRN | c.1275T= (p.Ala425=) c.669T= (p.Ala223=) n.90+4667T= | |
| 9 | g.137199437A>C | CA5362778 | TPRN | c.1275T>G (p.Ala425=) c.669T>G (p.Ala223=) n.90+4667T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199437A>G | CA467925000 | TPRN | c.1275T>C (p.Ala425=) c.669T>C (p.Ala223=) n.90+4667T>C | gnomAD v4 |
| 9 | g.137199437A>T | CA467925001 | TPRN | c.1275T>A (p.Ala425=) c.669T>A (p.Ala223=) n.90+4667T>A | |
| 9 | g.137199438G>A | CA375776960 | TPRN | c.1274C>T (p.Ala425Val) c.668C>T (p.Ala223Val) n.90+4666C>T | |
| 9 | g.137199438G>C | CA375776962 | TPRN | c.1274C>G (p.Ala425Gly) c.668C>G (p.Ala223Gly) n.90+4666C>G | |
| 9 | g.137199438G>T | CA375776966 | TPRN | c.1274C>A (p.Ala425Asp) c.668C>A (p.Ala223Asp) n.90+4666C>A | |
| 9 | g.137199439C>A | CA375776968 | TPRN | c.1273G>T (p.Ala425Ser) c.667G>T (p.Ala223Ser) n.90+4665G>T | |
| 9 | g.137199439C>G | CA375776970 | TPRN | c.1273G>C (p.Ala425Pro) c.667G>C (p.Ala223Pro) n.90+4665G>C | |
| 9 | g.137199439C>T | CA375776972 | TPRN | c.1273G>A (p.Ala425Thr) c.667G>A (p.Ala223Thr) n.90+4665G>A | |
| 9 | g.137199440C>A | CA467925002 | TPRN | c.1272G>T (p.Pro424=) c.666G>T (p.Pro222=) n.90+4664G>T | gnomAD v4 |
| 9 | g.137199440C= | CA1884351189 | TPRN | c.1272G= (p.Pro424=) c.666G= (p.Pro222=) n.90+4664G= | |
| 9 | g.137199440C>G | CA467925003 | TPRN | c.1272G>C (p.Pro424=) c.666G>C (p.Pro222=) n.90+4664G>C | |
| 9 | g.137199440C>T | CA467925004 | TPRN | c.1272G>A (p.Pro424=) c.666G>A (p.Pro222=) n.90+4664G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199441G>A | CA5362779 | TPRN | c.1271C>T (p.Pro424Leu) c.665C>T (p.Pro222Leu) n.90+4663C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199441G>C | CA375776977 | TPRN | c.1271C>G (p.Pro424Arg) c.665C>G (p.Pro222Arg) n.90+4663C>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199441G= | CA1884351190 | TPRN | c.1271C= (p.Pro424=) c.665C= (p.Pro222=) n.90+4663C= | |
| 9 | g.137199441G>T | CA375776979 | TPRN | c.1271C>A (p.Pro424Gln) c.665C>A (p.Pro222Gln) n.90+4663C>A | gnomAD v4 |
| 9 | g.137199442G>A | CA375776981 | TPRN | c.1270C>T (p.Pro424Ser) c.664C>T (p.Pro222Ser) n.90+4662C>T | dbSNP gnomAD v4 |
| 9 | g.137199442G>C | CA375776983 | TPRN | c.1270C>G (p.Pro424Ala) c.664C>G (p.Pro222Ala) n.90+4662C>G | |
| 9 | g.137199442G= | CA1884351191 | TPRN | c.1270C= (p.Pro424=) c.664C= (p.Pro222=) n.90+4662C= | |
| 9 | g.137199442G>T | CA375776986 | TPRN | c.1270C>A (p.Pro424Thr) c.664C>A (p.Pro222Thr) n.90+4662C>A | |
| 9 | g.137199443C>A | CA467925005 | TPRN | c.1269G>T (p.Leu423=) c.663G>T (p.Leu221=) n.90+4661G>T | |
| 9 | g.137199443C>G | CA467925006 | TPRN | c.1269G>C (p.Leu423=) c.663G>C (p.Leu221=) n.90+4661G>C | |
| 9 | g.137199443C>T | CA467925007 | TPRN | c.1269G>A (p.Leu423=) c.663G>A (p.Leu221=) n.90+4661G>A | |
| 9 | g.137199444A>C | CA375776990 | TPRN | c.1268T>G (p.Leu423Arg) c.662T>G (p.Leu221Arg) n.90+4660T>G | |
| 9 | g.137199444A>G | CA375776989 | TPRN | c.1268T>C (p.Leu423Pro) c.662T>C (p.Leu221Pro) n.90+4660T>C | |
| 9 | g.137199444A>T | CA375776987 | TPRN | c.1268T>A (p.Leu423Gln) c.662T>A (p.Leu221Gln) n.90+4660T>A | |
| 9 | g.137199445G>A | CA467925008 | TPRN | c.1267C>T (p.Leu423=) c.661C>T (p.Leu221=) n.90+4659C>T | dbSNP gnomAD v2 |
| 9 | g.137199445G>C | CA375776992 | TPRN | c.1267C>G (p.Leu423Val) c.661C>G (p.Leu221Val) n.90+4659C>G | |
| 9 | g.137199445G= | CA1884351192 | TPRN | c.1267C= (p.Leu423=) c.661C= (p.Leu221=) n.90+4659C= | |
| 9 | g.137199445G>T | CA375776997 | TPRN | c.1267C>A (p.Leu423Met) c.661C>A (p.Leu221Met) n.90+4659C>A | |
| 9 | g.137199446del | CA2692798512 | TPRN | c.1267del (p.Leu423CysfsTer27) c.661del (p.Leu221CysfsTer27) n.90+4659del | gnomAD v4 |
| 9 | g.137199446G>A | CA467925009 | TPRN | c.1266C>T (p.Phe422=) c.660C>T (p.Phe220=) n.90+4658C>T | gnomAD v4 |
| 9 | g.137199446G>C | CA375777002 | TPRN | c.1266C>G (p.Phe422Leu) c.660C>G (p.Phe220Leu) n.90+4658C>G | |
| 9 | g.137199446G>T | CA375777004 | TPRN | c.1266C>A (p.Phe422Leu) c.660C>A (p.Phe220Leu) n.90+4658C>A | |
| 9 | g.137199447A= | CA1884351193 | TPRN | c.1265T= (p.Phe422=) c.659T= (p.Phe220=) n.90+4657T= | |
| 9 | g.137199447A>C | CA375777012 | TPRN | c.1265T>G (p.Phe422Cys) c.659T>G (p.Phe220Cys) n.90+4657T>G | |
| 9 | g.137199447A>G | CA375777014 | TPRN | c.1265T>C (p.Phe422Ser) c.659T>C (p.Phe220Ser) n.90+4657T>C | dbSNP |
| 9 | g.137199447A>T | CA375777017 | TPRN | c.1265T>A (p.Phe422Tyr) c.659T>A (p.Phe220Tyr) n.90+4657T>A | gnomAD v4 |
| 9 | g.137199448A= | CA1884351194 | TPRN | c.1264T= (p.Phe422=) c.658T= (p.Phe220=) n.90+4656T= | |
| 9 | g.137199448A>C | CA375777020 | TPRN | c.1264T>G (p.Phe422Val) c.658T>G (p.Phe220Val) n.90+4656T>G | |
| 9 | g.137199448A>G | CA375777022 | TPRN | c.1264T>C (p.Phe422Leu) c.658T>C (p.Phe220Leu) n.90+4656T>C | |
| 9 | g.137199448A>T | CA375777025 | TPRN | c.1264T>A (p.Phe422Ile) c.658T>A (p.Phe220Ile) n.90+4656T>A | |
| 9 | g.137199449G>A | CA467925010 | TPRN | c.1263C>T (p.Pro421=) c.657C>T (p.Pro219=) n.90+4655C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199449G>C | CA5362780 | TPRN | c.1263C>G (p.Pro421=) c.657C>G (p.Pro219=) n.90+4655C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199449G= | CA1884351195 | TPRN | c.1263C= (p.Pro421=) c.657C= (p.Pro219=) n.90+4655C= | |
| 9 | g.137199449G>T | CA467925011 | TPRN | c.1263C>A (p.Pro421=) c.657C>A (p.Pro219=) n.90+4655C>A | dbSNP |
| 9 | g.137199454dup | CA591373029 | TPRN | c.1263dup (p.Phe422LeufsTer10) c.657dup (p.Phe220LeufsTer10) n.90+4655dup | dbSNP gnomAD v2 |
| 9 | g.137199454del | CA2692798514 | TPRN | c.1263del (p.Phe422SerfsTer28) c.657del (p.Phe220SerfsTer28) n.90+4655del | gnomAD v4 |
| 9 | g.137199450G>A | CA375777031 | TPRN | c.1262C>T (p.Pro421Leu) c.656C>T (p.Pro219Leu) n.90+4654C>T | |
| 9 | g.137199450G>C | CA5362781 | TPRN | c.1262C>G (p.Pro421Arg) c.656C>G (p.Pro219Arg) n.90+4654C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199450G= | CA1884351196 | TPRN | c.1262C= (p.Pro421=) c.656C= (p.Pro219=) n.90+4654C= | |
| 9 | g.137199450G>T | CA5362782 | TPRN | c.1262C>A (p.Pro421His) c.656C>A (p.Pro219His) n.90+4654C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199451G>A | CA5362783 | TPRN | c.1261C>T (p.Pro421Ser) c.655C>T (p.Pro219Ser) n.90+4653C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199451G>C | CA375777041 | TPRN | c.1261C>G (p.Pro421Ala) c.655C>G (p.Pro219Ala) n.90+4653C>G | gnomAD v4 |
| 9 | g.137199451G= | CA1884351197 | TPRN | c.1261C= (p.Pro421=) c.655C= (p.Pro219=) n.90+4653C= | |
| 9 | g.137199451G>T | CA375777036 | TPRN | c.1261C>A (p.Pro421Thr) c.655C>A (p.Pro219Thr) n.90+4653C>A | |
| 9 | g.137199452G>A | CA5362784 | TPRN | c.1260C>T (p.Pro420=) c.654C>T (p.Pro218=) n.90+4652C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199452G>C | CA467925012 | TPRN | c.1260C>G (p.Pro420=) c.654C>G (p.Pro218=) n.90+4652C>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199452G= | CA1884351198 | TPRN | c.1260C= (p.Pro420=) c.654C= (p.Pro218=) n.90+4652C= | |
| 9 | g.137199452G>T | CA467925013 | TPRN | c.1260C>A (p.Pro420=) c.654C>A (p.Pro218=) n.90+4652C>A | |
| 9 | g.137199453G>A | CA5362785 | TPRN | c.1259C>T (p.Pro420Leu) c.653C>T (p.Pro218Leu) n.90+4651C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199453G>C | CA375777051 | TPRN | c.1259C>G (p.Pro420Arg) c.653C>G (p.Pro218Arg) n.90+4651C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199453G= | CA1884351199 | TPRN | c.1259C= (p.Pro420=) c.653C= (p.Pro218=) n.90+4651C= | |
| 9 | g.137199453G>T | CA375777054 | TPRN | c.1259C>A (p.Pro420His) c.653C>A (p.Pro218His) n.90+4651C>A | |
| 9 | g.137199454G>A | CA5362786 | TPRN | c.1258C>T (p.Pro420Ser) c.652C>T (p.Pro218Ser) n.90+4650C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199454G>C | CA375777057 | TPRN | c.1258C>G (p.Pro420Ala) c.652C>G (p.Pro218Ala) n.90+4650C>G | |
| 9 | g.137199454G= | CA1884351200 | TPRN | c.1258C= (p.Pro420=) c.652C= (p.Pro218=) n.90+4650C= | |
| 9 | g.137199454G>T | CA375777059 | TPRN | c.1258C>A (p.Pro420Thr) c.652C>A (p.Pro218Thr) n.90+4650C>A | |
| 9 | g.137199455C>A | CA467925014 | TPRN | c.1257G>T (p.Pro419=) c.651G>T (p.Pro217=) n.90+4649G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199455C= | CA1884351201 | TPRN | c.1257G= (p.Pro419=) c.651G= (p.Pro217=) n.90+4649G= | |
| 9 | g.137199455C>G | CA467925015 | TPRN | c.1257G>C (p.Pro419=) c.651G>C (p.Pro217=) n.90+4649G>C | |
| 9 | g.137199455C>T | CA5362787 | TPRN | c.1257G>A (p.Pro419=) c.651G>A (p.Pro217=) n.90+4649G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199456G>A | CA5362788 | TPRN | c.1256C>T (p.Pro419Leu) c.650C>T (p.Pro217Leu) n.90+4648C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199456G>C | CA375777062 | TPRN | c.1256C>G (p.Pro419Arg) c.650C>G (p.Pro217Arg) n.90+4648C>G | gnomAD v4 |
| 9 | g.137199456G= | CA1884351202 | TPRN | c.1256C= (p.Pro419=) c.650C= (p.Pro217=) n.90+4648C= | |
| 9 | g.137199456G>T | CA375777064 | TPRN | c.1256C>A (p.Pro419Gln) c.650C>A (p.Pro217Gln) n.90+4648C>A | dbSNP gnomAD v4 |
| 9 | g.137199457G>A | CA375777072 | TPRN | c.1255C>T (p.Pro419Ser) c.649C>T (p.Pro217Ser) n.90+4647C>T | gnomAD v4 |
| 9 | g.137199457G>C | CA375777070 | TPRN | c.1255C>G (p.Pro419Ala) c.649C>G (p.Pro217Ala) n.90+4647C>G | |
| 9 | g.137199457G>T | CA375777067 | TPRN | c.1255C>A (p.Pro419Thr) c.649C>A (p.Pro217Thr) n.90+4647C>A | |
| 9 | g.137199458T>A | CA5362789 | TPRN | c.1254A>T (p.Ser418=) c.648A>T (p.Ser216=) n.90+4646A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199458T>C | CA467925017 | TPRN | c.1254A>G (p.Ser418=) c.648A>G (p.Ser216=) n.90+4646A>G | |
| 9 | g.137199458T>G | CA467925016 | TPRN | c.1254A>C (p.Ser418=) c.648A>C (p.Ser216=) n.90+4646A>C | |
| 9 | g.137199458T= | CA1884351203 | TPRN | c.1254A= (p.Ser418=) c.648A= (p.Ser216=) n.90+4646A= | |
| 9 | g.137199459G>A | CA375777077 | TPRN | c.1253C>T (p.Ser418Leu) c.647C>T (p.Ser216Leu) n.90+4645C>T | gnomAD v4 |
| 9 | g.137199459G>C | CA375777078 | TPRN | c.1253C>G (p.Ser418Ter) c.647C>G (p.Ser216Ter) n.90+4645C>G | |
| 9 | g.137199459G>T | CA375777080 | TPRN | c.1253C>A (p.Ser418Ter) c.647C>A (p.Ser216Ter) n.90+4645C>A | gnomAD v4 |
| 9 | g.137199460A>C | CA375777082 | TPRN | c.1252T>G (p.Ser418Ala) c.646T>G (p.Ser216Ala) n.90+4644T>G | |
| 9 | g.137199460A>G | CA375777083 | TPRN | c.1252T>C (p.Ser418Pro) c.646T>C (p.Ser216Pro) n.90+4644T>C | |
| 9 | g.137199460A>T | CA375777085 | TPRN | c.1252T>A (p.Ser418Thr) c.646T>A (p.Ser216Thr) n.90+4644T>A | |
| 9 | g.137199461G>A | CA467925018 | TPRN | c.1251C>T (p.Ser417=) c.645C>T (p.Ser215=) n.90+4643C>T | gnomAD v4 |
| 9 | g.137199461G>C | CA467925019 | TPRN | c.1251C>G (p.Ser417=) c.645C>G (p.Ser215=) n.90+4643C>G | |
| 9 | g.137199461G>T | CA467925020 | TPRN | c.1251C>A (p.Ser417=) c.645C>A (p.Ser215=) n.90+4643C>A | gnomAD v4 |
| 9 | g.137199462G>A | CA375777088 | TPRN | c.1250C>T (p.Ser417Phe) c.644C>T (p.Ser215Phe) n.90+4642C>T | gnomAD v4 |
| 9 | g.137199462G>C | CA375777090 | TPRN | c.1250C>G (p.Ser417Cys) c.644C>G (p.Ser215Cys) n.90+4642C>G | |
| 9 | g.137199462G>T | CA375777091 | TPRN | c.1250C>A (p.Ser417Tyr) c.644C>A (p.Ser215Tyr) n.90+4642C>A | gnomAD v4 |
| 9 | g.137199463A= | CA1884351204 | TPRN | c.1249T= (p.Ser417=) c.643T= (p.Ser215=) n.90+4641T= | |
| 9 | g.137199463A>C | CA375777094 | TPRN | c.1249T>G (p.Ser417Ala) c.643T>G (p.Ser215Ala) n.90+4641T>G | dbSNP |
| 9 | g.137199463A>G | CA375777095 | TPRN | c.1249T>C (p.Ser417Pro) c.643T>C (p.Ser215Pro) n.90+4641T>C | |
| 9 | g.137199463A>T | CA375777097 | TPRN | c.1249T>A (p.Ser417Thr) c.643T>A (p.Ser215Thr) n.90+4641T>A | |
| 9 | g.137199464C>A | CA467925021 | TPRN | c.1248G>T (p.Pro416=) c.642G>T (p.Pro214=) n.90+4640G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199464C= | CA1884351205 | TPRN | c.1248G= (p.Pro416=) c.642G= (p.Pro214=) n.90+4640G= | |
| 9 | g.137199464C>G | CA467925022 | TPRN | c.1248G>C (p.Pro416=) c.642G>C (p.Pro214=) n.90+4640G>C | |
| 9 | g.137199464C>T | CA5362790 | TPRN | c.1248G>A (p.Pro416=) c.642G>A (p.Pro214=) n.90+4640G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199465G>A | CA5362791 | TPRN | c.1247C>T (p.Pro416Leu) c.641C>T (p.Pro214Leu) n.90+4639C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199465G>C | CA375777099 | TPRN | c.1247C>G (p.Pro416Arg) c.641C>G (p.Pro214Arg) n.90+4639C>G | |
| 9 | g.137199465G= | CA1884351206 | TPRN | c.1247C= (p.Pro416=) c.641C= (p.Pro214=) n.90+4639C= | |
| 9 | g.137199465G>T | CA375777101 | TPRN | c.1247C>A (p.Pro416Gln) c.641C>A (p.Pro214Gln) n.90+4639C>A | gnomAD v4 |
| 9 | g.137199466G>A | CA375777103 | TPRN | c.1246C>T (p.Pro416Ser) c.640C>T (p.Pro214Ser) n.90+4638C>T | dbSNP gnomAD v4 |
| 9 | g.137199466G>C | CA375777104 | TPRN | c.1246C>G (p.Pro416Ala) c.640C>G (p.Pro214Ala) n.90+4638C>G | |
| 9 | g.137199466G= | CA1884351207 | TPRN | c.1246C= (p.Pro416=) c.640C= (p.Pro214=) n.90+4638C= | |
| 9 | g.137199466G>T | CA375777105 | TPRN | c.1246C>A (p.Pro416Thr) c.640C>A (p.Pro214Thr) n.90+4638C>A | dbSNP |
| 9 | g.137199467C>A | CA375777106 | TPRN | c.1245G>T (p.Arg415Ser) c.639G>T (p.Arg213Ser) n.90+4637G>T | |
| 9 | g.137199467C>G | CA375777107 | TPRN | c.1245G>C (p.Arg415Ser) c.639G>C (p.Arg213Ser) n.90+4637G>C | |
| 9 | g.137199467C>T | CA467925023 | TPRN | c.1245G>A (p.Arg415=) c.639G>A (p.Arg213=) n.90+4637G>A | gnomAD v4 |
| 9 | g.137199468C>A | CA375777110 | TPRN | c.1244G>T (p.Arg415Met) c.638G>T (p.Arg213Met) n.90+4636G>T | |
| 9 | g.137199468C>G | CA375777113 | TPRN | c.1244G>C (p.Arg415Thr) c.638G>C (p.Arg213Thr) n.90+4636G>C | |
| 9 | g.137199468C>T | CA375777114 | TPRN | c.1244G>A (p.Arg415Lys) c.638G>A (p.Arg213Lys) n.90+4636G>A | |
| 9 | g.137199469T>A | CA375777115 | TPRN | c.1243A>T (p.Arg415Trp) c.637A>T (p.Arg213Trp) n.90+4635A>T | |
| 9 | g.137199469T>C | CA375777116 | TPRN | c.1243A>G (p.Arg415Gly) c.637A>G (p.Arg213Gly) n.90+4635A>G | gnomAD v4 |
| 9 | g.137199469T>G | CA467925024 | TPRN | c.1243A>C (p.Arg415=) c.637A>C (p.Arg213=) n.90+4635A>C | |
| 9 | g.137199470C>A | CA375777118 | TPRN | c.1242G>T (p.Gln414His) c.636G>T (p.Gln212His) n.90+4634G>T | |
| 9 | g.137199470C>G | CA375777119 | TPRN | c.1242G>C (p.Gln414His) c.636G>C (p.Gln212His) n.90+4634G>C | |
| 9 | g.137199470C>T | CA467925025 | TPRN | c.1242G>A (p.Gln414=) c.636G>A (p.Gln212=) n.90+4634G>A | |
| 9 | g.137199471T>A | CA375777120 | TPRN | c.1241A>T (p.Gln414Leu) c.635A>T (p.Gln212Leu) n.90+4633A>T | |
| 9 | g.137199471T>C | CA5362792 | TPRN | c.1241A>G (p.Gln414Arg) c.635A>G (p.Gln212Arg) n.90+4633A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199471T>G | CA375777121 | TPRN | c.1241A>C (p.Gln414Pro) c.635A>C (p.Gln212Pro) n.90+4633A>C | |
| 9 | g.137199471T= | CA1884351208 | TPRN | c.1241A= (p.Gln414=) c.635A= (p.Gln212=) n.90+4633A= | |
| 9 | g.137199472G>A | CA5362793 | TPRN | c.1240C>T (p.Gln414Ter) c.634C>T (p.Gln212Ter) n.90+4632C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199472G>C | CA375777125 | TPRN | c.1240C>G (p.Gln414Glu) c.634C>G (p.Gln212Glu) n.90+4632C>G | |
| 9 | g.137199472G= | CA1884351209 | TPRN | c.1240C= (p.Gln414=) c.634C= (p.Gln212=) n.90+4632C= | |
| 9 | g.137199472G>T | CA375777123 | TPRN | c.1240C>A (p.Gln414Lys) c.634C>A (p.Gln212Lys) n.90+4632C>A | ClinVar gnomAD v4 |
| 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 | |
| 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.137199514dup | CA2842414005 | TPRN | c.1200dup (p.Arg401GlnfsTer8) c.594dup (p.Arg199GlnfsTer8) n.90+4592dup | |
| 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 | ClinVar 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 |