| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137199373C>A | CA375776612 | TPRN | c.1339G>T (p.Glu447Ter) c.733G>T (p.Glu245Ter) n.90+4731G>T | |
| 9 | g.137199373C= | CA1884351164 | TPRN | c.1339G= (p.Glu447=) c.733G= (p.Glu245=) n.90+4731G= | |
| 9 | g.137199373C>G | CA375776605 | TPRN | c.1339G>C (p.Glu447Gln) c.733G>C (p.Glu245Gln) n.90+4731G>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199373C>T | CA375776604 | TPRN | c.1339G>A (p.Glu447Lys) c.733G>A (p.Glu245Lys) n.90+4731G>A | gnomAD v4 |
| 9 | g.137199374C>A | CA467924954 | TPRN | c.1338G>T (p.Arg446=) c.732G>T (p.Arg244=) n.90+4730G>T | |
| 9 | g.137199374C>G | CA467924955 | TPRN | c.1338G>C (p.Arg446=) c.732G>C (p.Arg244=) n.90+4730G>C | |
| 9 | g.137199374C>T | CA467924957 | TPRN | c.1338G>A (p.Arg446=) c.732G>A (p.Arg244=) n.90+4730G>A | |
| 9 | g.137199375C>A | CA375776614 | TPRN | c.1337G>T (p.Arg446Leu) c.731G>T (p.Arg244Leu) n.90+4729G>T | |
| 9 | g.137199375C= | CA1884351165 | TPRN | c.1337G= (p.Arg446=) c.731G= (p.Arg244=) n.90+4729G= | |
| 9 | g.137199375C>G | CA5362766 | TPRN | c.1337G>C (p.Arg446Pro) c.731G>C (p.Arg244Pro) n.90+4729G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199375C>T | CA5362767 | TPRN | c.1337G>A (p.Arg446Gln) c.731G>A (p.Arg244Gln) n.90+4729G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199376G>A | CA5362768 | TPRN | c.1336C>T (p.Arg446Trp) c.730C>T (p.Arg244Trp) n.90+4728C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199376G>C | CA375776623 | TPRN | c.1336C>G (p.Arg446Gly) c.730C>G (p.Arg244Gly) n.90+4728C>G | |
| 9 | g.137199376G= | CA1884351166 | TPRN | c.1336C= (p.Arg446=) c.730C= (p.Arg244=) n.90+4728C= | |
| 9 | g.137199376G>T | CA467924958 | TPRN | c.1336C>A (p.Arg446=) c.730C>A (p.Arg244=) n.90+4728C>A | |
| 9 | g.137199377G>A | CA467924959 | TPRN | c.1335C>T (p.Ser445=) c.729C>T (p.Ser243=) n.90+4727C>T | |
| 9 | g.137199377G>C | CA375776624 | TPRN | c.1335C>G (p.Ser445Arg) c.729C>G (p.Ser243Arg) n.90+4727C>G | |
| 9 | g.137199377G>T | CA375776626 | TPRN | c.1335C>A (p.Ser445Arg) c.729C>A (p.Ser243Arg) n.90+4727C>A | |
| 9 | g.137199378C>A | CA375776627 | TPRN | c.1334G>T (p.Ser445Ile) c.728G>T (p.Ser243Ile) n.90+4726G>T | dbSNP gnomAD v2 |
| 9 | g.137199378C= | CA1884351167 | TPRN | c.1334G= (p.Ser445=) c.728G= (p.Ser243=) n.90+4726G= | |
| 9 | g.137199378C>G | CA5362769 | TPRN | c.1334G>C (p.Ser445Thr) c.728G>C (p.Ser243Thr) n.90+4726G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199378C>T | CA375776630 | TPRN | c.1334G>A (p.Ser445Asn) c.728G>A (p.Ser243Asn) n.90+4726G>A | gnomAD v4 |
| 9 | g.137199379T>A | CA375776632 | TPRN | c.1333A>T (p.Ser445Cys) c.727A>T (p.Ser243Cys) n.90+4725A>T | |
| 9 | g.137199379T>C | CA375776633 | TPRN | c.1333A>G (p.Ser445Gly) c.727A>G (p.Ser243Gly) n.90+4725A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199379T>G | CA375776634 | TPRN | c.1333A>C (p.Ser445Arg) c.727A>C (p.Ser243Arg) n.90+4725A>C | |
| 9 | g.137199379T= | CA1884351168 | TPRN | c.1333A= (p.Ser445=) c.727A= (p.Ser243=) n.90+4725A= | |
| 9 | g.137199380A>C | CA375776636 | TPRN | c.1332T>G (p.Asn444Lys) c.726T>G (p.Asn242Lys) n.90+4724T>G | |
| 9 | g.137199380A>G | CA467924960 | TPRN | c.1332T>C (p.Asn444=) c.726T>C (p.Asn242=) n.90+4724T>C | |
| 9 | g.137199380A>T | CA375776635 | TPRN | c.1332T>A (p.Asn444Lys) c.726T>A (p.Asn242Lys) n.90+4724T>A | |
| 9 | g.137199381T>A | CA375776638 | TPRN | c.1331A>T (p.Asn444Ile) c.725A>T (p.Asn242Ile) n.90+4723A>T | |
| 9 | g.137199381T>C | CA375776641 | TPRN | c.1331A>G (p.Asn444Ser) c.725A>G (p.Asn242Ser) n.90+4723A>G | |
| 9 | g.137199381T>G | CA375776640 | TPRN | c.1331A>C (p.Asn444Thr) c.725A>C (p.Asn242Thr) n.90+4723A>C | |
| 9 | g.137199382T>A | CA375776642 | TPRN | c.1330A>T (p.Asn444Tyr) c.724A>T (p.Asn242Tyr) n.90+4722A>T | |
| 9 | g.137199382T>C | CA375776643 | TPRN | c.1330A>G (p.Asn444Asp) c.724A>G (p.Asn242Asp) n.90+4722A>G | |
| 9 | g.137199382T>G | CA375776645 | TPRN | c.1330A>C (p.Asn444His) c.724A>C (p.Asn242His) n.90+4722A>C | |
| 9 | g.137199383C>A | CA375776646 | TPRN | c.1329G>T (p.Lys443Asn) c.723G>T (p.Lys241Asn) n.90+4721G>T | dbSNP |
| 9 | g.137199383C= | CA1884351169 | TPRN | c.1329G= (p.Lys443=) c.723G= (p.Lys241=) n.90+4721G= | |
| 9 | g.137199383C>G | CA375776648 | TPRN | c.1329G>C (p.Lys443Asn) c.723G>C (p.Lys241Asn) n.90+4721G>C | |
| 9 | g.137199383C>T | CA467924962 | TPRN | c.1329G>A (p.Lys443=) c.723G>A (p.Lys241=) n.90+4721G>A | gnomAD v4 |
| 9 | g.137199384T>A | CA375776650 | TPRN | c.1328A>T (p.Lys443Met) c.722A>T (p.Lys241Met) n.90+4720A>T | |
| 9 | g.137199384T>C | CA375776652 | TPRN | c.1328A>G (p.Lys443Arg) c.722A>G (p.Lys241Arg) n.90+4720A>G | gnomAD v4 |
| 9 | g.137199384T>G | CA375776657 | TPRN | c.1328A>C (p.Lys443Thr) c.722A>C (p.Lys241Thr) n.90+4720A>C | |
| 9 | g.137199385T>A | CA375776663 | TPRN | c.1327A>T (p.Lys443Ter) c.721A>T (p.Lys241Ter) n.90+4719A>T | |
| 9 | g.137199385T>C | CA375776666 | TPRN | c.1327A>G (p.Lys443Glu) c.721A>G (p.Lys241Glu) n.90+4719A>G | |
| 9 | g.137199385T>G | CA375776668 | TPRN | c.1327A>C (p.Lys443Gln) c.721A>C (p.Lys241Gln) n.90+4719A>C | |
| 9 | g.137199386G>A | CA467924963 | TPRN | c.1326C>T (p.Ala442=) c.720C>T (p.Ala240=) n.90+4718C>T | |
| 9 | g.137199386G>C | CA467924964 | TPRN | c.1326C>G (p.Ala442=) c.720C>G (p.Ala240=) n.90+4718C>G | |
| 9 | g.137199386G>T | CA467924965 | TPRN | c.1326C>A (p.Ala442=) c.720C>A (p.Ala240=) n.90+4718C>A | |
| 9 | g.137199387G>A | CA375776678 | TPRN | c.1325C>T (p.Ala442Val) c.719C>T (p.Ala240Val) n.90+4717C>T | dbSNP gnomAD v4 |
| 9 | g.137199387G>C | CA375776672 | TPRN | c.1325C>G (p.Ala442Gly) c.719C>G (p.Ala240Gly) n.90+4717C>G |