| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137199198G>A | CA375775265 | TPRN | c.1514C>T (p.Pro505Leu) c.908C>T (p.Pro303Leu) n.90+4906C>T | |
| 9 | g.137199198G>C | CA375775267 | TPRN | c.1514C>G (p.Pro505Arg) c.908C>G (p.Pro303Arg) n.90+4906C>G | |
| 9 | g.137199198G>T | CA375775269 | TPRN | c.1514C>A (p.Pro505His) c.908C>A (p.Pro303His) n.90+4906C>A | |
| 9 | g.137199199G>A | CA5362721 | TPRN | c.1513C>T (p.Pro505Ser) c.907C>T (p.Pro303Ser) n.90+4905C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199199G>C | CA375775278 | TPRN | c.1513C>G (p.Pro505Ala) c.907C>G (p.Pro303Ala) n.90+4905C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199199G= | CA1884351081 | TPRN | c.1513C= (p.Pro505=) c.907C= (p.Pro303=) n.90+4905C= | |
| 9 | g.137199199G>T | CA375775279 | TPRN | c.1513C>A (p.Pro505Thr) c.907C>A (p.Pro303Thr) n.90+4905C>A | |
| 9 | g.137199200C>A | CA467852909 | TPRN | c.1512G>T (p.Val504=) c.906G>T (p.Val302=) n.90+4904G>T | |
| 9 | g.137199200C= | CA1884351082 | TPRN | c.1512G= (p.Val504=) c.906G= (p.Val302=) n.90+4904G= | |
| 9 | g.137199200C>G | CA467852910 | TPRN | c.1512G>C (p.Val504=) c.906G>C (p.Val302=) n.90+4904G>C | |
| 9 | g.137199200C>T | CA467852911 | TPRN | c.1512G>A (p.Val504=) c.906G>A (p.Val302=) n.90+4904G>A | dbSNP |
| 9 | g.137199201A>C | CA375775282 | TPRN | c.1511T>G (p.Val504Gly) c.905T>G (p.Val302Gly) n.90+4903T>G | |
| 9 | g.137199201A>G | CA375775284 | TPRN | c.1511T>C (p.Val504Ala) c.905T>C (p.Val302Ala) n.90+4903T>C | COSMIC |
| 9 | g.137199201A>T | CA375775286 | TPRN | c.1511T>A (p.Val504Glu) c.905T>A (p.Val302Glu) n.90+4903T>A | |
| 9 | g.137199202C>A | CA375775291 | TPRN | c.1510G>T (p.Val504Leu) c.904G>T (p.Val302Leu) n.90+4902G>T | |
| 9 | g.137199202C>G | CA375775293 | TPRN | c.1510G>C (p.Val504Leu) c.904G>C (p.Val302Leu) n.90+4902G>C | gnomAD v4 |
| 9 | g.137199202C>T | CA375775298 | TPRN | c.1510G>A (p.Val504Met) c.904G>A (p.Val302Met) n.90+4902G>A | |
| 9 | g.137199203C>A | CA467852913 | TPRN | c.1509G>T (p.Val503=) c.903G>T (p.Val301=) n.90+4901G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199203C= | CA1884351083 | TPRN | c.1509G= (p.Val503=) c.903G= (p.Val301=) n.90+4901G= | |
| 9 | g.137199203C>G | CA467852914 | TPRN | c.1509G>C (p.Val503=) c.903G>C (p.Val301=) n.90+4901G>C | |
| 9 | g.137199203C>T | CA467852916 | TPRN | c.1509G>A (p.Val503=) c.903G>A (p.Val301=) n.90+4901G>A | |
| 9 | g.137199203_137199213del | CA2692798042 | TPRN | c.1499_1509del (p.Thr500SerfsTer?) c.893_903del (p.Thr298SerfsTer?) n.90+4891_90+4901del | gnomAD v4 |
| 9 | g.137199204del | CA2786297304 | TPRN | c.1508del (p.Val503GlyfsTer?) c.902del (p.Val301GlyfsTer?) n.90+4900del | |
| 9 | g.137199204A= | CA1884351084 | TPRN | c.1508T= (p.Val503=) c.902T= (p.Val301=) n.90+4900T= | |
| 9 | g.137199204A>C | CA5362722 | TPRN | c.1508T>G (p.Val503Gly) c.902T>G (p.Val301Gly) n.90+4900T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199204A>G | CA375775305 | TPRN | c.1508T>C (p.Val503Ala) c.902T>C (p.Val301Ala) n.90+4900T>C | |
| 9 | g.137199204A>T | CA375775303 | TPRN | c.1508T>A (p.Val503Glu) c.902T>A (p.Val301Glu) n.90+4900T>A | |
| 9 | g.137199205C>A | CA375775312 | TPRN | c.1507G>T (p.Val503Leu) c.901G>T (p.Val301Leu) n.90+4899G>T | |
| 9 | g.137199205C>G | CA375775310 | TPRN | c.1507G>C (p.Val503Leu) c.901G>C (p.Val301Leu) n.90+4899G>C | gnomAD v4 |
| 9 | g.137199205C>T | CA375775311 | TPRN | c.1507G>A (p.Val503Met) c.901G>A (p.Val301Met) n.90+4899G>A | gnomAD v4 |
| 9 | g.137199206T>A | CA467852918 | TPRN | c.1506A>T (p.Thr502=) c.900A>T (p.Thr300=) n.90+4898A>T | |
| 9 | g.137199206T>C | CA467852919 | TPRN | c.1506A>G (p.Thr502=) c.900A>G (p.Thr300=) n.90+4898A>G | |
| 9 | g.137199206T>G | CA467852921 | TPRN | c.1506A>C (p.Thr502=) c.900A>C (p.Thr300=) n.90+4898A>C | |
| 9 | g.137199207G>A | CA375775313 | TPRN | c.1505C>T (p.Thr502Ile) c.899C>T (p.Thr300Ile) n.90+4897C>T | |
| 9 | g.137199207G>C | CA375775316 | TPRN | c.1505C>G (p.Thr502Arg) c.899C>G (p.Thr300Arg) n.90+4897C>G | gnomAD v4 |
| 9 | g.137199207G>T | CA375775324 | TPRN | c.1505C>A (p.Thr502Lys) c.899C>A (p.Thr300Lys) n.90+4897C>A | |
| 9 | g.137199208T>A | CA375775339 | TPRN | c.1504A>T (p.Thr502Ser) c.898A>T (p.Thr300Ser) n.90+4896A>T | |
| 9 | g.137199208T>C | CA375775327 | TPRN | c.1504A>G (p.Thr502Ala) c.898A>G (p.Thr300Ala) n.90+4896A>G | gnomAD v4 |
| 9 | g.137199208T>G | CA375775326 | TPRN | c.1504A>C (p.Thr502Pro) c.898A>C (p.Thr300Pro) n.90+4896A>C | |
| 9 | g.137199209G>A | CA5362723 | TPRN | c.1503C>T (p.Phe501=) c.897C>T (p.Phe299=) n.90+4895C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199209G>C | CA375775343 | TPRN | c.1503C>G (p.Phe501Leu) c.897C>G (p.Phe299Leu) n.90+4895C>G | |
| 9 | g.137199209G= | CA1884351085 | TPRN | c.1503C= (p.Phe501=) c.897C= (p.Phe299=) n.90+4895C= | |
| 9 | g.137199209G>T | CA375775345 | TPRN | c.1503C>A (p.Phe501Leu) c.897C>A (p.Phe299Leu) n.90+4895C>A | |
| 9 | g.137199210A>C | CA375775349 | TPRN | c.1502T>G (p.Phe501Cys) c.896T>G (p.Phe299Cys) n.90+4894T>G | |
| 9 | g.137199210A>G | CA375775353 | TPRN | c.1502T>C (p.Phe501Ser) c.896T>C (p.Phe299Ser) n.90+4894T>C | |
| 9 | g.137199210A>T | CA375775356 | TPRN | c.1502T>A (p.Phe501Tyr) c.896T>A (p.Phe299Tyr) n.90+4894T>A | |
| 9 | g.137199211A>C | CA375775361 | TPRN | c.1501T>G (p.Phe501Val) c.895T>G (p.Phe299Val) n.90+4893T>G | |
| 9 | g.137199211A>G | CA375775363 | TPRN | c.1501T>C (p.Phe501Leu) c.895T>C (p.Phe299Leu) n.90+4893T>C | |
| 9 | g.137199211A>T | CA375775362 | TPRN | c.1501T>A (p.Phe501Ile) c.895T>A (p.Phe299Ile) n.90+4893T>A | |
| 9 | g.137199212G>A | CA5362724 | TPRN | c.1500C>T (p.Thr500=) c.894C>T (p.Thr298=) n.90+4892C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 9 | g.137199212G>C | CA467852926 | TPRN | c.1500C>G (p.Thr500=) c.894C>G (p.Thr298=) n.90+4892C>G | |
| 9 | g.137199212G= | CA1884351086 | TPRN | c.1500C= (p.Thr500=) c.894C= (p.Thr298=) n.90+4892C= | |
| 9 | g.137199212G>T | CA467852925 | TPRN | c.1500C>A (p.Thr500=) c.894C>A (p.Thr298=) n.90+4892C>A | |
| 9 | g.137199213G>A | CA375775366 | TPRN | c.1499C>T (p.Thr500Ile) c.893C>T (p.Thr298Ile) n.90+4891C>T | dbSNP |
| 9 | g.137199213G>C | CA375775370 | TPRN | c.1499C>G (p.Thr500Ser) c.893C>G (p.Thr298Ser) n.90+4891C>G | |
| 9 | g.137199213G= | CA1884351087 | TPRN | c.1499C= (p.Thr500=) c.893C= (p.Thr298=) n.90+4891C= | |
| 9 | g.137199213G>T | CA375775371 | TPRN | c.1499C>A (p.Thr500Asn) c.893C>A (p.Thr298Asn) n.90+4891C>A | |
| 9 | g.137199214T>A | CA375775373 | TPRN | c.1498A>T (p.Thr500Ser) c.892A>T (p.Thr298Ser) n.90+4890A>T | |
| 9 | g.137199214T>C | CA375775374 | TPRN | c.1498A>G (p.Thr500Ala) c.892A>G (p.Thr298Ala) n.90+4890A>G | |
| 9 | g.137199214T>G | CA375775377 | TPRN | c.1498A>C (p.Thr500Pro) c.892A>C (p.Thr298Pro) n.90+4890A>C | |
| 9 | g.137199215G>A | CA467852928 | TPRN | c.1497C>T (p.Asn499=) c.891C>T (p.Asn297=) n.90+4889C>T | gnomAD v4 |
| 9 | g.137199215G>C | CA375775386 | TPRN | c.1497C>G (p.Asn499Lys) c.891C>G (p.Asn297Lys) n.90+4889C>G | |
| 9 | g.137199215G>T | CA375775392 | TPRN | c.1497C>A (p.Asn499Lys) c.891C>A (p.Asn297Lys) n.90+4889C>A | |
| 9 | g.137199216T>A | CA375775393 | TPRN | c.1496A>T (p.Asn499Ile) c.890A>T (p.Asn297Ile) n.90+4888A>T | |
| 9 | g.137199216T>C | CA375775394 | TPRN | c.1496A>G (p.Asn499Ser) c.890A>G (p.Asn297Ser) n.90+4888A>G | |
| 9 | g.137199216T>G | CA375775396 | TPRN | c.1496A>C (p.Asn499Thr) c.890A>C (p.Asn297Thr) n.90+4888A>C | |
| 9 | g.137199217T>A | CA375775403 | TPRN | c.1495A>T (p.Asn499Tyr) c.889A>T (p.Asn297Tyr) n.90+4887A>T | |
| 9 | g.137199217T>C | CA375775412 | TPRN | c.1495A>G (p.Asn499Asp) c.889A>G (p.Asn297Asp) n.90+4887A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199217T>G | CA375775400 | TPRN | c.1495A>C (p.Asn499His) c.889A>C (p.Asn297His) n.90+4887A>C | |
| 9 | g.137199217T= | CA1884351088 | TPRN | c.1495A= (p.Asn499=) c.889A= (p.Asn297=) n.90+4887A= | |
| 9 | g.137199218G>A | CA467853040 | TPRN | c.1494C>T (p.Ser498=) c.888C>T (p.Ser296=) n.90+4886C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199218G>C | CA375775416 | TPRN | c.1494C>G (p.Ser498Arg) c.888C>G (p.Ser296Arg) n.90+4886C>G | |
| 9 | g.137199218G= | CA1884351089 | TPRN | c.1494C= (p.Ser498=) c.888C= (p.Ser296=) n.90+4886C= | |
| 9 | g.137199218G>T | CA375775418 | TPRN | c.1494C>A (p.Ser498Arg) c.888C>A (p.Ser296Arg) n.90+4886C>A | |
| 9 | g.137199219C>A | CA375775422 | TPRN | c.1493G>T (p.Ser498Ile) c.887G>T (p.Ser296Ile) n.90+4885G>T | |
| 9 | g.137199219C= | CA1884351090 | TPRN | c.1493G= (p.Ser498=) c.887G= (p.Ser296=) n.90+4885G= | |
| 9 | g.137199219C>G | CA5362725 | TPRN | c.1493G>C (p.Ser498Thr) c.887G>C (p.Ser296Thr) n.90+4885G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199219C>T | CA375775428 | TPRN | c.1493G>A (p.Ser498Asn) c.887G>A (p.Ser296Asn) n.90+4885G>A | gnomAD v4 |
| 9 | g.137199220T>A | CA375775430 | TPRN | c.1492A>T (p.Ser498Cys) c.886A>T (p.Ser296Cys) n.90+4884A>T | |
| 9 | g.137199220T>C | CA375775431 | TPRN | c.1492A>G (p.Ser498Gly) c.886A>G (p.Ser296Gly) n.90+4884A>G | |
| 9 | g.137199220T>G | CA375775432 | TPRN | c.1492A>C (p.Ser498Arg) c.886A>C (p.Ser296Arg) n.90+4884A>C | |
| 9 | g.137199221G>A | CA467853051 | TPRN | c.1491C>T (p.Gly497=) c.885C>T (p.Gly295=) n.90+4883C>T | |
| 9 | g.137199221G>C | CA467853048 | TPRN | c.1491C>G (p.Gly497=) c.885C>G (p.Gly295=) n.90+4883C>G | |
| 9 | g.137199221G>T | CA467853046 | TPRN | c.1491C>A (p.Gly497=) c.885C>A (p.Gly295=) n.90+4883C>A | |
| 9 | g.137199222C>A | CA375775433 | TPRN | c.1490G>T (p.Gly497Val) c.884G>T (p.Gly295Val) n.90+4882G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199222C= | CA1884351091 | TPRN | c.1490G= (p.Gly497=) c.884G= (p.Gly295=) n.90+4882G= | |
| 9 | g.137199222C>G | CA375775434 | TPRN | c.1490G>C (p.Gly497Ala) c.884G>C (p.Gly295Ala) n.90+4882G>C | |
| 9 | g.137199222C>T | CA375775435 | TPRN | c.1490G>A (p.Gly497Asp) c.884G>A (p.Gly295Asp) n.90+4882G>A | |
| 9 | g.137199223C>A | CA375775437 | TPRN | c.1489G>T (p.Gly497Cys) c.883G>T (p.Gly295Cys) n.90+4881G>T | |
| 9 | g.137199223C>G | CA375775440 | TPRN | c.1489G>C (p.Gly497Arg) c.883G>C (p.Gly295Arg) n.90+4881G>C | |
| 9 | g.137199223C>T | CA375775444 | TPRN | c.1489G>A (p.Gly497Ser) c.883G>A (p.Gly295Ser) n.90+4881G>A | |
| 9 | g.137199224C>A | CA467853058 | TPRN | c.1488G>T (p.Arg496=) c.882G>T (p.Arg294=) n.90+4880G>T | |
| 9 | g.137199224C= | CA1884351092 | TPRN | c.1488G= (p.Arg496=) c.882G= (p.Arg294=) n.90+4880G= | |
| 9 | g.137199224C>G | CA467853056 | TPRN | c.1488G>C (p.Arg496=) c.882G>C (p.Arg294=) n.90+4880G>C | |
| 9 | g.137199224C>T | CA467853057 | TPRN | c.1488G>A (p.Arg496=) c.882G>A (p.Arg294=) n.90+4880G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199225C>A | CA375775460 | TPRN | c.1487G>T (p.Arg496Leu) c.881G>T (p.Arg294Leu) n.90+4879G>T | |
| 9 | g.137199225C= | CA1884351093 | TPRN | c.1487G= (p.Arg496=) c.881G= (p.Arg294=) n.90+4879G= | |
| 9 | g.137199225C>G | CA375775457 | TPRN | c.1487G>C (p.Arg496Pro) c.881G>C (p.Arg294Pro) n.90+4879G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199225C>T | CA5362726 | TPRN | c.1487G>A (p.Arg496Gln) c.881G>A (p.Arg294Gln) n.90+4879G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199226G>A | CA5362727 | TPRN | c.1486C>T (p.Arg496Trp) c.880C>T (p.Arg294Trp) n.90+4878C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.137199226G>C | CA375775461 | TPRN | c.1486C>G (p.Arg496Gly) c.880C>G (p.Arg294Gly) n.90+4878C>G | |
| 9 | g.137199226G= | CA1884351094 | TPRN | c.1486C= (p.Arg496=) c.880C= (p.Arg294=) n.90+4878C= | |
| 9 | g.137199226G>T | CA467853065 | TPRN | c.1486C>A (p.Arg496=) c.880C>A (p.Arg294=) n.90+4878C>A | |
| 9 | g.137199227G>A | CA467853067 | TPRN | c.1485C>T (p.Pro495=) c.879C>T (p.Pro293=) n.90+4877C>T | gnomAD v4 |
| 9 | g.137199227G>C | CA467853071 | TPRN | c.1485C>G (p.Pro495=) c.879C>G (p.Pro293=) n.90+4877C>G | |
| 9 | g.137199227G>T | CA467853066 | TPRN | c.1485C>A (p.Pro495=) c.879C>A (p.Pro293=) n.90+4877C>A | |
| 9 | g.137199228G>A | CA375775464 | TPRN | c.1484C>T (p.Pro495Leu) c.878C>T (p.Pro293Leu) n.90+4876C>T | gnomAD v4 |
| 9 | g.137199228G>C | CA375775473 | TPRN | c.1484C>G (p.Pro495Arg) c.878C>G (p.Pro293Arg) n.90+4876C>G | |
| 9 | g.137199228G>T | CA375775476 | TPRN | c.1484C>A (p.Pro495His) c.878C>A (p.Pro293His) n.90+4876C>A | |
| 9 | g.137199229G>A | CA375775480 | TPRN | c.1483C>T (p.Pro495Ser) c.877C>T (p.Pro293Ser) n.90+4875C>T | gnomAD v4 |
| 9 | g.137199229G>C | CA375775484 | TPRN | c.1483C>G (p.Pro495Ala) c.877C>G (p.Pro293Ala) n.90+4875C>G | |
| 9 | g.137199229G= | CA1884351095 | TPRN | c.1483C= (p.Pro495=) c.877C= (p.Pro293=) n.90+4875C= | |
| 9 | g.137199229G>T | CA375775488 | TPRN | c.1483C>A (p.Pro495Thr) c.877C>A (p.Pro293Thr) n.90+4875C>A | |
| 9 | g.137199230C>A | CA375775494 | TPRN | c.1482G>T (p.Gln494His) c.876G>T (p.Gln292His) n.90+4874G>T | |
| 9 | g.137199230C>G | CA375775496 | TPRN | c.1482G>C (p.Gln494His) c.876G>C (p.Gln292His) n.90+4874G>C | gnomAD v4 |
| 9 | g.137199230C>T | CA467853078 | TPRN | c.1482G>A (p.Gln494=) c.876G>A (p.Gln292=) n.90+4874G>A | |
| 9 | g.137199230dup | CA201720983 | TPRN | c.1482dup (p.Pro495AlafsTer?) c.876dup (p.Pro293AlafsTer?) n.90+4874dup | dbSNP |
| 9 | g.137199231T>A | CA375775513 | TPRN | c.1481A>T (p.Gln494Leu) c.875A>T (p.Gln292Leu) n.90+4873A>T | |
| 9 | g.137199231T>C | CA375775521 | TPRN | c.1481A>G (p.Gln494Arg) c.875A>G (p.Gln292Arg) n.90+4873A>G | |
| 9 | g.137199231T>G | CA375775499 | TPRN | c.1481A>C (p.Gln494Pro) c.875A>C (p.Gln292Pro) n.90+4873A>C | |
| 9 | g.137199232G>A | CA375775524 | TPRN | c.1480C>T (p.Gln494Ter) c.874C>T (p.Gln292Ter) n.90+4872C>T | |
| 9 | g.137199232G>C | CA375775526 | TPRN | c.1480C>G (p.Gln494Glu) c.874C>G (p.Gln292Glu) n.90+4872C>G | |
| 9 | g.137199232G>T | CA375775530 | TPRN | c.1480C>A (p.Gln494Lys) c.874C>A (p.Gln292Lys) n.90+4872C>A | |
| 9 | g.137199233A>C | CA467853084 | TPRN | c.1479T>G (p.Leu493=) c.873T>G (p.Leu291=) n.90+4871T>G | |
| 9 | g.137199233A>G | CA467853087 | TPRN | c.1479T>C (p.Leu493=) c.873T>C (p.Leu291=) n.90+4871T>C | gnomAD v4 |
| 9 | g.137199233A>T | CA467853082 | TPRN | c.1479T>A (p.Leu493=) c.873T>A (p.Leu291=) n.90+4871T>A | |
| 9 | g.137199234A>C | CA375775551 | TPRN | c.1478T>G (p.Leu493Arg) c.872T>G (p.Leu291Arg) n.90+4870T>G | |
| 9 | g.137199234A>G | CA375775554 | TPRN | c.1478T>C (p.Leu493Pro) c.872T>C (p.Leu291Pro) n.90+4870T>C | gnomAD v4 |
| 9 | g.137199234A>T | CA375775558 | TPRN | c.1478T>A (p.Leu493His) c.872T>A (p.Leu291His) n.90+4870T>A | |
| 9 | g.137199235G>A | CA375775578 | TPRN | c.1477C>T (p.Leu493Phe) c.871C>T (p.Leu291Phe) n.90+4869C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199235G>C | CA375775565 | TPRN | c.1477C>G (p.Leu493Val) c.871C>G (p.Leu291Val) n.90+4869C>G | |
| 9 | g.137199235G= | CA1884351096 | TPRN | c.1477C= (p.Leu493=) c.871C= (p.Leu291=) n.90+4869C= | |
| 9 | g.137199235G>T | CA375775569 | TPRN | c.1477C>A (p.Leu493Ile) c.871C>A (p.Leu291Ile) n.90+4869C>A | |
| 9 | g.137199236C>A | CA375775588 | TPRN | c.1476G>T (p.Glu492Asp) c.870G>T (p.Glu290Asp) n.90+4868G>T | |
| 9 | g.137199236C= | CA1884351097 | TPRN | c.1476G= (p.Glu492=) c.870G= (p.Glu290=) n.90+4868G= | |
| 9 | g.137199236C>G | CA375775590 | TPRN | c.1476G>C (p.Glu492Asp) c.870G>C (p.Glu290Asp) n.90+4868G>C | |
| 9 | g.137199236C>T | CA467853093 | TPRN | c.1476G>A (p.Glu492=) c.870G>A (p.Glu290=) n.90+4868G>A | dbSNP gnomAD v4 |
| 9 | g.137199237T>A | CA375775592 | TPRN | c.1475A>T (p.Glu492Val) c.869A>T (p.Glu290Val) n.90+4867A>T | |
| 9 | g.137199237T>C | CA375775594 | TPRN | c.1475A>G (p.Glu492Gly) c.869A>G (p.Glu290Gly) n.90+4867A>G | |
| 9 | g.137199237T>G | CA375775595 | TPRN | c.1475A>C (p.Glu492Ala) c.869A>C (p.Glu290Ala) n.90+4867A>C | |
| 9 | g.137199238C>A | CA375775599 | TPRN | c.1474G>T (p.Glu492Ter) c.868G>T (p.Glu290Ter) n.90+4866G>T | |
| 9 | g.137199238C>G | CA375775604 | TPRN | c.1474G>C (p.Glu492Gln) c.868G>C (p.Glu290Gln) n.90+4866G>C | gnomAD v4 COSMIC COSMIC |
| 9 | g.137199238C>T | CA375775601 | TPRN | c.1474G>A (p.Glu492Lys) c.868G>A (p.Glu290Lys) n.90+4866G>A | |
| 9 | g.137199239T>A | CA467853096 | TPRN | c.1473A>T (p.Ala491=) c.867A>T (p.Ala289=) n.90+4865A>T | |
| 9 | g.137199239T>C | CA467853097 | TPRN | c.1473A>G (p.Ala491=) c.867A>G (p.Ala289=) n.90+4865A>G | |
| 9 | g.137199239T>G | CA467853099 | TPRN | c.1473A>C (p.Ala491=) c.867A>C (p.Ala289=) n.90+4865A>C | |
| 9 | g.137199240G>A | CA375775610 | TPRN | c.1472C>T (p.Ala491Val) c.866C>T (p.Ala289Val) n.90+4864C>T | |
| 9 | g.137199240G>C | CA201720984 | TPRN | c.1472C>G (p.Ala491Gly) c.866C>G (p.Ala289Gly) n.90+4864C>G | dbSNP |
| 9 | g.137199240G= | CA1884351098 | TPRN | c.1472C= (p.Ala491=) c.866C= (p.Ala289=) n.90+4864C= | |
| 9 | g.137199240G>T | CA375775614 | TPRN | c.1472C>A (p.Ala491Glu) c.866C>A (p.Ala289Glu) n.90+4864C>A | |
| 9 | g.137199241C>A | CA375775619 | TPRN | c.1471G>T (p.Ala491Ser) c.865G>T (p.Ala289Ser) n.90+4863G>T | |
| 9 | g.137199241C>G | CA375775623 | TPRN | c.1471G>C (p.Ala491Pro) c.865G>C (p.Ala289Pro) n.90+4863G>C | |
| 9 | g.137199241C>T | CA375775626 | TPRN | c.1471G>A (p.Ala491Thr) c.865G>A (p.Ala289Thr) n.90+4863G>A | |
| 9 | g.137199242C>A | CA467853102 | TPRN | c.1470G>T (p.Val490=) c.864G>T (p.Val288=) n.90+4862G>T | |
| 9 | g.137199242C>G | CA467853103 | TPRN | c.1470G>C (p.Val490=) c.864G>C (p.Val288=) n.90+4862G>C | |
| 9 | g.137199242C>T | CA467853104 | TPRN | c.1470G>A (p.Val490=) c.864G>A (p.Val288=) n.90+4862G>A | gnomAD v4 |
| 9 | g.137199243A>C | CA375775629 | TPRN | c.1469T>G (p.Val490Gly) c.863T>G (p.Val288Gly) n.90+4861T>G | |
| 9 | g.137199243A>G | CA375775633 | TPRN | c.1469T>C (p.Val490Ala) c.863T>C (p.Val288Ala) n.90+4861T>C | |
| 9 | g.137199243A>T | CA375775634 | TPRN | c.1469T>A (p.Val490Glu) c.863T>A (p.Val288Glu) n.90+4861T>A | |
| 9 | g.137199244C>A | CA375775637 | TPRN | c.1468G>T (p.Val490Leu) c.862G>T (p.Val288Leu) n.90+4860G>T | gnomAD v4 |
| 9 | g.137199244C= | CA1884351099 | TPRN | c.1468G= (p.Val490=) c.862G= (p.Val288=) n.90+4860G= | |
| 9 | g.137199244C>G | CA375775638 | TPRN | c.1468G>C (p.Val490Leu) c.862G>C (p.Val288Leu) n.90+4860G>C | |
| 9 | g.137199244C>T | CA5362728 | TPRN | c.1468G>A (p.Val490Met) c.862G>A (p.Val288Met) n.90+4860G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199245G>A | CA5362729 | TPRN | c.1467C>T (p.Cys489=) c.861C>T (p.Cys287=) n.90+4859C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199245G>C | CA375775640 | TPRN | c.1467C>G (p.Cys489Trp) c.861C>G (p.Cys287Trp) n.90+4859C>G | |
| 9 | g.137199245G= | CA1884351100 | TPRN | c.1467C= (p.Cys489=) c.861C= (p.Cys287=) n.90+4859C= | |
| 9 | g.137199245G>T | CA375775639 | TPRN | c.1467C>A (p.Cys489Ter) c.861C>A (p.Cys287Ter) n.90+4859C>A | |
| 9 | g.137199246C>A | CA375775643 | TPRN | c.1466G>T (p.Cys489Phe) c.860G>T (p.Cys287Phe) n.90+4858G>T | |
| 9 | g.137199246C>G | CA375775644 | TPRN | c.1466G>C (p.Cys489Ser) c.860G>C (p.Cys287Ser) n.90+4858G>C | |
| 9 | g.137199246C>T | CA375775645 | TPRN | c.1466G>A (p.Cys489Tyr) c.860G>A (p.Cys287Tyr) n.90+4858G>A | |
| 9 | g.137199247A>C | CA375775646 | TPRN | c.1465T>G (p.Cys489Gly) c.859T>G (p.Cys287Gly) n.90+4857T>G | |
| 9 | g.137199247A>G | CA375775647 | TPRN | c.1465T>C (p.Cys489Arg) c.859T>C (p.Cys287Arg) n.90+4857T>C | |
| 9 | g.137199247A>T | CA375775649 | TPRN | c.1465T>A (p.Cys489Ser) c.859T>A (p.Cys287Ser) n.90+4857T>A | |
| 9 | g.137199248C>A | CA467853106 | TPRN | c.1464G>T (p.Gly488=) c.858G>T (p.Gly286=) n.90+4856G>T | gnomAD v4 |
| 9 | g.137199248C>G | CA467853107 | TPRN | c.1464G>C (p.Gly488=) c.858G>C (p.Gly286=) n.90+4856G>C | |
| 9 | g.137199248C>T | CA467853108 | TPRN | c.1464G>A (p.Gly488=) c.858G>A (p.Gly286=) n.90+4856G>A | |
| 9 | g.137199249C>A | CA375775650 | TPRN | c.1463G>T (p.Gly488Val) c.857G>T (p.Gly286Val) n.90+4855G>T | |
| 9 | g.137199249C>G | CA375775654 | TPRN | c.1463G>C (p.Gly488Ala) c.857G>C (p.Gly286Ala) n.90+4855G>C | |
| 9 | g.137199249C>T | CA375775655 | TPRN | c.1463G>A (p.Gly488Glu) c.857G>A (p.Gly286Glu) n.90+4855G>A | |
| 9 | g.137199250C>A | CA375775657 | TPRN | c.1462G>T (p.Gly488Trp) c.856G>T (p.Gly286Trp) n.90+4854G>T | |
| 9 | g.137199250C= | CA1884351101 | TPRN | c.1462G= (p.Gly488=) c.856G= (p.Gly286=) n.90+4854G= | |
| 9 | g.137199250C>G | CA375775659 | TPRN | c.1462G>C (p.Gly488Arg) c.856G>C (p.Gly286Arg) n.90+4854G>C | |
| 9 | g.137199250C>T | CA5362730 | TPRN | c.1462G>A (p.Gly488Arg) c.856G>A (p.Gly286Arg) n.90+4854G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.137199251G>A | CA467853112 | TPRN | c.1461C>T (p.Pro487=) c.855C>T (p.Pro285=) n.90+4853C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199251G>C | CA467853114 | TPRN | c.1461C>G (p.Pro487=) c.855C>G (p.Pro285=) n.90+4853C>G | |
| 9 | g.137199251G= | CA1884351103 | TPRN | c.1461C= (p.Pro487=) c.855C= (p.Pro285=) n.90+4853C= | |
| 9 | g.137199251G>T | CA467853116 | TPRN | c.1461C>A (p.Pro487=) c.855C>A (p.Pro285=) n.90+4853C>A | gnomAD v4 |
| 9 | g.137199251_137199268dup | CA5362731 | TPRN | c.1444_1461dup (p.Pro487_Gly488insLeuHisProAlaArgPro) c.838_855dup (p.Pro285_Gly286insLeuHisProAlaArgPro) n.90+4836_90+4853dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199251_137199269delinsGGGCCTGGCAGGGTGCAGA | CA1884351102 | TPRN | c.1443_1461delinsTCTGCACCCTGCCAGGCCC (p.Pro481=) c.837_855delinsTCTGCACCCTGCCAGGCCC (p.Pro279=) n.90+4835_90+4853delinsTCTGCACCCTGCCAGGCCC | |
| 9 | g.137199252G>A | CA375775664 | TPRN | c.1460C>T (p.Pro487Leu) c.854C>T (p.Pro285Leu) n.90+4852C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199252G>C | CA375775663 | TPRN | c.1460C>G (p.Pro487Arg) c.854C>G (p.Pro285Arg) n.90+4852C>G | |
| 9 | g.137199252G= | CA1884351104 | TPRN | c.1460C= (p.Pro487=) c.854C= (p.Pro285=) n.90+4852C= | |
| 9 | g.137199252G>T | CA375775662 | TPRN | c.1460C>A (p.Pro487His) c.854C>A (p.Pro285His) n.90+4852C>A | |
| 9 | g.137199267_137199284dup | CA591373023 | TPRN | c.1443_1460dup (p.Pro487_Gly488insLeuHisProAlaArgPro) c.837_854dup (p.Pro285_Gly286insLeuHisProAlaArgPro) n.90+4835_90+4852dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199267_137199284del | CA5362732 | TPRN | c.1443_1460del (p.Leu482_Pro487del) c.837_854del (p.Leu280_Pro285del) n.90+4835_90+4852del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199253G>A | CA375775666 | TPRN | c.1459C>T (p.Pro487Ser) c.853C>T (p.Pro285Ser) n.90+4851C>T | dbSNP |
| 9 | g.137199253G>C | CA375775668 | TPRN | c.1459C>G (p.Pro487Ala) c.853C>G (p.Pro285Ala) n.90+4851C>G | |
| 9 | g.137199253G= | CA1884351105 | TPRN | c.1459C= (p.Pro487=) c.853C= (p.Pro285=) n.90+4851C= | |
| 9 | g.137199253G>T | CA375775670 | TPRN | c.1459C>A (p.Pro487Thr) c.853C>A (p.Pro285Thr) n.90+4851C>A | |
| 9 | g.137199254C>A | CA375775674 | TPRN | c.1458G>T (p.Arg486Ser) c.852G>T (p.Arg284Ser) n.90+4850G>T | |
| 9 | g.137199254C= | CA1884351106 | TPRN | c.1458G= (p.Arg486=) c.852G= (p.Arg284=) n.90+4850G= | |
| 9 | g.137199254C>G | CA375775679 | TPRN | c.1458G>C (p.Arg486Ser) c.852G>C (p.Arg284Ser) n.90+4850G>C | |
| 9 | g.137199254C>T | CA201720991 | TPRN | c.1458G>A (p.Arg486=) c.852G>A (p.Arg284=) n.90+4850G>A | dbSNP |
| 9 | g.137199255C>A | CA375775686 | TPRN | c.1457G>T (p.Arg486Met) c.851G>T (p.Arg284Met) n.90+4849G>T | |
| 9 | g.137199255C>G | CA375775681 | TPRN | c.1457G>C (p.Arg486Thr) c.851G>C (p.Arg284Thr) n.90+4849G>C | |
| 9 | g.137199255C>T | CA375775683 | TPRN | c.1457G>A (p.Arg486Lys) c.851G>A (p.Arg284Lys) n.90+4849G>A | |
| 9 | g.137199256T>A | CA375775687 | TPRN | c.1456A>T (p.Arg486Trp) c.850A>T (p.Arg284Trp) n.90+4848A>T | |
| 9 | g.137199256T>C | CA375775688 | TPRN | c.1456A>G (p.Arg486Gly) c.850A>G (p.Arg284Gly) n.90+4848A>G | |
| 9 | g.137199256T>G | CA467853117 | TPRN | c.1456A>C (p.Arg486=) c.850A>C (p.Arg284=) n.90+4848A>C | |
| 9 | g.137199257G>A | CA467853120 | TPRN | c.1455C>T (p.Ala485=) c.849C>T (p.Ala283=) n.90+4847C>T | |
| 9 | g.137199257G>C | CA467853118 | TPRN | c.1455C>G (p.Ala485=) c.849C>G (p.Ala283=) n.90+4847C>G | |
| 9 | g.137199257G>T | CA467853119 | TPRN | c.1455C>A (p.Ala485=) c.849C>A (p.Ala283=) n.90+4847C>A | |
| 9 | g.137199258G>A | CA375775689 | TPRN | c.1454C>T (p.Ala485Val) c.848C>T (p.Ala283Val) n.90+4846C>T | |
| 9 | g.137199258G>C | CA375775690 | TPRN | c.1454C>G (p.Ala485Gly) c.848C>G (p.Ala283Gly) n.90+4846C>G | |
| 9 | g.137199258G>T | CA375775692 | TPRN | c.1454C>A (p.Ala485Asp) c.848C>A (p.Ala283Asp) n.90+4846C>A | |
| 9 | g.137199259C>A | CA375775699 | TPRN | c.1453G>T (p.Ala485Ser) c.847G>T (p.Ala283Ser) n.90+4845G>T | |
| 9 | g.137199259C>G | CA375775696 | TPRN | c.1453G>C (p.Ala485Pro) c.847G>C (p.Ala283Pro) n.90+4845G>C | |
| 9 | g.137199259C>T | CA375775698 | TPRN | c.1453G>A (p.Ala485Thr) c.847G>A (p.Ala283Thr) n.90+4845G>A | |
| 9 | g.137199260A>C | CA467853123 | TPRN | c.1452T>G (p.Pro484=) c.846T>G (p.Pro282=) n.90+4844T>G | |
| 9 | g.137199260A>G | CA467853122 | TPRN | c.1452T>C (p.Pro484=) c.846T>C (p.Pro282=) n.90+4844T>C | |
| 9 | g.137199260A>T | CA467853121 | TPRN | c.1452T>A (p.Pro484=) c.846T>A (p.Pro282=) n.90+4844T>A | |
| 9 | g.137199261G>A | CA375775703 | TPRN | c.1451C>T (p.Pro484Leu) c.845C>T (p.Pro282Leu) n.90+4843C>T | |
| 9 | g.137199261G>C | CA375775706 | TPRN | c.1451C>G (p.Pro484Arg) c.845C>G (p.Pro282Arg) n.90+4843C>G | |
| 9 | g.137199261G>T | CA375775716 | TPRN | c.1451C>A (p.Pro484His) c.845C>A (p.Pro282His) n.90+4843C>A | |
| 9 | g.137199262G>A | CA375775719 | TPRN | c.1450C>T (p.Pro484Ser) c.844C>T (p.Pro282Ser) n.90+4842C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199262G>C | CA375775721 | TPRN | c.1450C>G (p.Pro484Ala) c.844C>G (p.Pro282Ala) n.90+4842C>G | |
| 9 | g.137199262G= | CA1884351107 | TPRN | c.1450C= (p.Pro484=) c.844C= (p.Pro282=) n.90+4842C= | |
| 9 | g.137199262G>T | CA375775722 | TPRN | c.1450C>A (p.Pro484Thr) c.844C>A (p.Pro282Thr) n.90+4842C>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199263G>A | CA467853124 | TPRN | c.1449C>T (p.His483=) c.843C>T (p.His281=) n.90+4841C>T | |
| 9 | g.137199263G>C | CA375775726 | TPRN | c.1449C>G (p.His483Gln) c.843C>G (p.His281Gln) n.90+4841C>G | |
| 9 | g.137199263G>T | CA375775723 | TPRN | c.1449C>A (p.His483Gln) c.843C>A (p.His281Gln) n.90+4841C>A | |
| 9 | g.137199264T>A | CA375775729 | TPRN | c.1448A>T (p.His483Leu) c.842A>T (p.His281Leu) n.90+4840A>T | |
| 9 | g.137199264T>C | CA375775730 | TPRN | c.1448A>G (p.His483Arg) c.842A>G (p.His281Arg) n.90+4840A>G | |
| 9 | g.137199264T>G | CA375775733 | TPRN | c.1448A>C (p.His483Pro) c.842A>C (p.His281Pro) n.90+4840A>C | |
| 9 | g.137199265G>A | CA375775743 | TPRN | c.1447C>T (p.His483Tyr) c.841C>T (p.His281Tyr) n.90+4839C>T | dbSNP |
| 9 | g.137199265G>C | CA375775745 | TPRN | c.1447C>G (p.His483Asp) c.841C>G (p.His281Asp) n.90+4839C>G | |
| 9 | g.137199265G= | CA1884351108 | TPRN | c.1447C= (p.His483=) c.841C= (p.His281=) n.90+4839C= | |
| 9 | g.137199265G>T | CA5362733 | TPRN | c.1447C>A (p.His483Asn) c.841C>A (p.His281Asn) n.90+4839C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199266C>A | CA467853125 | TPRN | c.1446G>T (p.Leu482=) c.840G>T (p.Leu280=) n.90+4838G>T | |
| 9 | g.137199266C= | CA1884351109 | TPRN | c.1446G= (p.Leu482=) c.840G= (p.Leu280=) n.90+4838G= | |
| 9 | g.137199266C>G | CA467853126 | TPRN | c.1446G>C (p.Leu482=) c.840G>C (p.Leu280=) n.90+4838G>C | |
| 9 | g.137199266C>T | CA467853127 | TPRN | c.1446G>A (p.Leu482=) c.840G>A (p.Leu280=) n.90+4838G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199267A>C | CA375775764 | TPRN | c.1445T>G (p.Leu482Arg) c.839T>G (p.Leu280Arg) n.90+4837T>G | |
| 9 | g.137199267A>G | CA375775775 | TPRN | c.1445T>C (p.Leu482Pro) c.839T>C (p.Leu280Pro) n.90+4837T>C | |
| 9 | g.137199267A>T | CA375775774 | TPRN | c.1445T>A (p.Leu482Gln) c.839T>A (p.Leu280Gln) n.90+4837T>A | |
| 9 | g.137199268G>A | CA467853128 | TPRN | c.1444C>T (p.Leu482=) c.838C>T (p.Leu280=) n.90+4836C>T | |
| 9 | g.137199268G>C | CA201720996 | TPRN | c.1444C>G (p.Leu482Val) c.838C>G (p.Leu280Val) n.90+4836C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199268G= | CA1884351110 | TPRN | c.1444C= (p.Leu482=) c.838C= (p.Leu280=) n.90+4836C= | |
| 9 | g.137199268G>T | CA375775776 | TPRN | c.1444C>A (p.Leu482Met) c.838C>A (p.Leu280Met) n.90+4836C>A | |
| 9 | g.137199269A= | CA1884351111 | TPRN | c.1443T= (p.Pro481=) c.837T= (p.Pro279=) n.90+4835T= | |
| 9 | g.137199269A>C | CA467853129 | TPRN | c.1443T>G (p.Pro481=) c.837T>G (p.Pro279=) n.90+4835T>G | |
| 9 | g.137199269A>G | CA5362734 | TPRN | c.1443T>C (p.Pro481=) c.837T>C (p.Pro279=) n.90+4835T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199269A>T | CA467853130 | TPRN | c.1443T>A (p.Pro481=) c.837T>A (p.Pro279=) n.90+4835T>A | |
| 9 | g.137199270G>A | CA375775777 | TPRN | c.1442C>T (p.Pro481Leu) c.836C>T (p.Pro279Leu) n.90+4834C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199270G>C | CA375775786 | TPRN | c.1442C>G (p.Pro481Arg) c.836C>G (p.Pro279Arg) n.90+4834C>G | |
| 9 | g.137199270G= | CA1884351112 | TPRN | c.1442C= (p.Pro481=) c.836C= (p.Pro279=) n.90+4834C= | |
| 9 | g.137199270G>T | CA375775788 | TPRN | c.1442C>A (p.Pro481His) c.836C>A (p.Pro279His) n.90+4834C>A | |
| 9 | g.137199271G>A | CA375775790 | TPRN | c.1441C>T (p.Pro481Ser) c.835C>T (p.Pro279Ser) n.90+4833C>T | |
| 9 | g.137199271G>C | CA375775797 | TPRN | c.1441C>G (p.Pro481Ala) c.835C>G (p.Pro279Ala) n.90+4833C>G | |
| 9 | g.137199271G= | CA1884351113 | TPRN | c.1441C= (p.Pro481=) c.835C= (p.Pro279=) n.90+4833C= | |
| 9 | g.137199271G>T | CA375775799 | TPRN | c.1441C>A (p.Pro481Thr) c.835C>A (p.Pro279Thr) n.90+4833C>A | dbSNP |
| 9 | g.137199272C>A | CA375775800 | TPRN | c.1440G>T (p.Arg480Ser) c.834G>T (p.Arg278Ser) n.90+4832G>T | |
| 9 | g.137199272C>G | CA375775801 | TPRN | c.1440G>C (p.Arg480Ser) c.834G>C (p.Arg278Ser) n.90+4832G>C | |
| 9 | g.137199272C>T | CA467853131 | TPRN | c.1440G>A (p.Arg480=) c.834G>A (p.Arg278=) n.90+4832G>A | |
| 9 | g.137199273C>A | CA375775802 | TPRN | c.1439G>T (p.Arg480Met) c.833G>T (p.Arg278Met) n.90+4831G>T | |
| 9 | g.137199273C>G | CA375775804 | TPRN | c.1439G>C (p.Arg480Thr) c.833G>C (p.Arg278Thr) n.90+4831G>C | |
| 9 | g.137199273C>T | CA375775803 | TPRN | c.1439G>A (p.Arg480Lys) c.833G>A (p.Arg278Lys) n.90+4831G>A | |
| 9 | g.137199274T>A | CA375775806 | TPRN | c.1438A>T (p.Arg480Trp) c.832A>T (p.Arg278Trp) n.90+4830A>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199274T>C | CA375775808 | TPRN | c.1438A>G (p.Arg480Gly) c.832A>G (p.Arg278Gly) n.90+4830A>G | gnomAD v4 |
| 9 | g.137199274T>G | CA467853132 | TPRN | c.1438A>C (p.Arg480=) c.832A>C (p.Arg278=) n.90+4830A>C | |
| 9 | g.137199274T= | CA1884351114 | TPRN | c.1438A= (p.Arg480=) c.832A= (p.Arg278=) n.90+4830A= | |
| 9 | g.137199275G>A | CA467853134 | TPRN | c.1437C>T (p.Ala479=) c.831C>T (p.Ala277=) n.90+4829C>T | |
| 9 | g.137199275G>C | CA5362735 | TPRN | c.1437C>G (p.Ala479=) c.831C>G (p.Ala277=) n.90+4829C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199275G= | CA1884351115 | TPRN | c.1437C= (p.Ala479=) c.831C= (p.Ala277=) n.90+4829C= | |
| 9 | g.137199275G>T | CA467853133 | TPRN | c.1437C>A (p.Ala479=) c.831C>A (p.Ala277=) n.90+4829C>A | |
| 9 | g.137199276G>A | CA375775813 | TPRN | c.1436C>T (p.Ala479Val) c.830C>T (p.Ala277Val) n.90+4828C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199276G>C | CA375775820 | TPRN | c.1436C>G (p.Ala479Gly) c.830C>G (p.Ala277Gly) n.90+4828C>G | gnomAD v4 |
| 9 | g.137199276G= | CA1884351116 | TPRN | c.1436C= (p.Ala479=) c.830C= (p.Ala277=) n.90+4828C= | |
| 9 | g.137199276G>T | CA375775830 | TPRN | c.1436C>A (p.Ala479Asp) c.830C>A (p.Ala277Asp) n.90+4828C>A | |
| 9 | g.137199277C>A | CA375775839 | TPRN | c.1435G>T (p.Ala479Ser) c.829G>T (p.Ala277Ser) n.90+4827G>T | |
| 9 | g.137199277C>G | CA375775836 | TPRN | c.1435G>C (p.Ala479Pro) c.829G>C (p.Ala277Pro) n.90+4827G>C | |
| 9 | g.137199277C>T | CA375775834 | TPRN | c.1435G>A (p.Ala479Thr) c.829G>A (p.Ala277Thr) n.90+4827G>A | gnomAD v4 |
| 9 | g.137199278A= | CA1884351117 | TPRN | c.1434T= (p.Pro478=) c.828T= (p.Pro276=) n.90+4826T= | |
| 9 | g.137199278A>C | CA467853137 | TPRN | c.1434T>G (p.Pro478=) c.828T>G (p.Pro276=) n.90+4826T>G | |
| 9 | g.137199278A>G | CA467853135 | TPRN | c.1434T>C (p.Pro478=) c.828T>C (p.Pro276=) n.90+4826T>C | dbSNP |
| 9 | g.137199278A>T | CA467853136 | TPRN | c.1434T>A (p.Pro478=) c.828T>A (p.Pro276=) n.90+4826T>A | |
| 9 | g.137199279G>A | CA5362736 | TPRN | c.1433C>T (p.Pro478Leu) c.827C>T (p.Pro276Leu) n.90+4825C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199279G>C | CA375775844 | TPRN | c.1433C>G (p.Pro478Arg) c.827C>G (p.Pro276Arg) n.90+4825C>G | |
| 9 | g.137199279G= | CA1884351118 | TPRN | c.1433C= (p.Pro478=) c.827C= (p.Pro276=) n.90+4825C= | |
| 9 | g.137199279G>T | CA375775846 | TPRN | c.1433C>A (p.Pro478His) c.827C>A (p.Pro276His) n.90+4825C>A | |
| 9 | g.137199280G>A | CA375775852 | TPRN | c.1432C>T (p.Pro478Ser) c.826C>T (p.Pro276Ser) n.90+4824C>T | |
| 9 | g.137199280G>C | CA375775856 | TPRN | c.1432C>G (p.Pro478Ala) c.826C>G (p.Pro276Ala) n.90+4824C>G | |
| 9 | g.137199280G>T | CA375775865 | TPRN | c.1432C>A (p.Pro478Thr) c.826C>A (p.Pro276Thr) n.90+4824C>A | |
| 9 | g.137199281G>A | CA5362737 | TPRN | c.1431C>T (p.His477=) c.825C>T (p.His275=) n.90+4823C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199281G>C | CA375775887 | TPRN | c.1431C>G (p.His477Gln) c.825C>G (p.His275Gln) n.90+4823C>G | |
| 9 | g.137199281G= | CA1884351119 | TPRN | c.1431C= (p.His477=) c.825C= (p.His275=) n.90+4823C= | |
| 9 | g.137199281G>T | CA375775876 | TPRN | c.1431C>A (p.His477Gln) c.825C>A (p.His275Gln) n.90+4823C>A | gnomAD v4 |
| 9 | g.137199282T>A | CA375775897 | TPRN | c.1430A>T (p.His477Leu) c.824A>T (p.His275Leu) n.90+4822A>T | |
| 9 | g.137199282T>C | CA375775899 | TPRN | c.1430A>G (p.His477Arg) c.824A>G (p.His275Arg) n.90+4822A>G | gnomAD v4 |
| 9 | g.137199282T>G | CA375775901 | TPRN | c.1430A>C (p.His477Pro) c.824A>C (p.His275Pro) n.90+4822A>C | |
| 9 | g.137199283G>A | CA375775904 | TPRN | c.1429C>T (p.His477Tyr) c.823C>T (p.His275Tyr) n.90+4821C>T | |
| 9 | g.137199283G>C | CA375775905 | TPRN | c.1429C>G (p.His477Asp) c.823C>G (p.His275Asp) n.90+4821C>G | |
| 9 | g.137199283G>T | CA375775907 | TPRN | c.1429C>A (p.His477Asn) c.823C>A (p.His275Asn) n.90+4821C>A | |
| 9 | g.137199283_137199284insA | CA2692798197 | TPRN | c.1428_1429insT (p.His477SerfsTer?) c.822_823insT (p.His275SerfsTer?) n.90+4820_90+4821insT | gnomAD v4 |
| 9 | g.137199284C>A | CA467853139 | TPRN | c.1428G>T (p.Pro476=) c.822G>T (p.Pro274=) n.90+4820G>T | gnomAD v4 |
| 9 | g.137199284C= | CA1884351120 | TPRN | c.1428G= (p.Pro476=) c.822G= (p.Pro274=) n.90+4820G= | |
| 9 | g.137199284C>G | CA467853138 | TPRN | c.1428G>C (p.Pro476=) c.822G>C (p.Pro274=) n.90+4820G>C | gnomAD v4 |
| 9 | g.137199284C>T | CA5362738 | TPRN | c.1428G>A (p.Pro476=) c.822G>A (p.Pro274=) n.90+4820G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199284_137199285delinsCG | CA1884351121 | TPRN | c.1427_1428delinsCG (p.Pro476=) c.821_822delinsCG (p.Pro274=) n.90+4819_90+4820delinsCG | |
| 9 | g.137199285G>A | CA5362739 | TPRN | c.1427C>T (p.Pro476Leu) c.821C>T (p.Pro274Leu) n.90+4819C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199285G>C | CA375775918 | TPRN | c.1427C>G (p.Pro476Arg) c.821C>G (p.Pro274Arg) n.90+4819C>G | |
| 9 | g.137199285G= | CA1884351122 | TPRN | c.1427C= (p.Pro476=) c.821C= (p.Pro274=) n.90+4819C= | |
| 9 | g.137199285G>T | CA375775921 | TPRN | c.1427C>A (p.Pro476Gln) c.821C>A (p.Pro274Gln) n.90+4819C>A | |
| 9 | g.137199287del | CA113908 | TPRN | c.1427del (p.Pro476ArgfsTer?) c.821del (p.Pro274ArgfsTer?) n.90+4819del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199286G>A | CA375775925 | TPRN | c.1426C>T (p.Pro476Ser) c.820C>T (p.Pro274Ser) n.90+4818C>T | |
| 9 | g.137199286G>C | CA375775937 | TPRN | c.1426C>G (p.Pro476Ala) c.820C>G (p.Pro274Ala) n.90+4818C>G | |
| 9 | g.137199286G>T | CA375775930 | TPRN | c.1426C>A (p.Pro476Thr) c.820C>A (p.Pro274Thr) n.90+4818C>A | |
| 9 | g.137199287G>A | CA467853142 | TPRN | c.1425C>T (p.Leu475=) c.819C>T (p.Leu273=) n.90+4817C>T | gnomAD v4 |
| 9 | g.137199287G>C | CA467853141 | TPRN | c.1425C>G (p.Leu475=) c.819C>G (p.Leu273=) n.90+4817C>G | |
| 9 | g.137199287G>T | CA467853140 | TPRN | c.1425C>A (p.Leu475=) c.819C>A (p.Leu273=) n.90+4817C>A | |
| 9 | g.137199288A= | CA1884351123 | TPRN | c.1424T= (p.Leu475=) c.818T= (p.Leu273=) n.90+4816T= | |
| 9 | g.137199288A>C | CA375775947 | TPRN | c.1424T>G (p.Leu475Arg) c.818T>G (p.Leu273Arg) n.90+4816T>G | |
| 9 | g.137199288A>G | CA375775951 | TPRN | c.1424T>C (p.Leu475Pro) c.818T>C (p.Leu273Pro) n.90+4816T>C | ClinVar dbSNP |
| 9 | g.137199288A>T | CA375775953 | TPRN | c.1424T>A (p.Leu475His) c.818T>A (p.Leu273His) n.90+4816T>A | |
| 9 | g.137199289G>A | CA5362740 | TPRN | c.1423C>T (p.Leu475Phe) c.817C>T (p.Leu273Phe) n.90+4815C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199289G>C | CA201721021 | TPRN | c.1423C>G (p.Leu475Val) c.817C>G (p.Leu273Val) n.90+4815C>G | dbSNP gnomAD v4 |
| 9 | g.137199289G= | CA1884351124 | TPRN | c.1423C= (p.Leu475=) c.817C= (p.Leu273=) n.90+4815C= | |
| 9 | g.137199289G>T | CA375775964 | TPRN | c.1423C>A (p.Leu475Ile) c.817C>A (p.Leu273Ile) n.90+4815C>A | |
| 9 | g.137199290G>A | CA467853143 | TPRN | c.1422C>T (p.Tyr474=) c.816C>T (p.Tyr272=) n.90+4814C>T | gnomAD v4 |
| 9 | g.137199290G>C | CA375775966 | TPRN | c.1422C>G (p.Tyr474Ter) c.816C>G (p.Tyr272Ter) n.90+4814C>G | |
| 9 | g.137199290G>T | CA375775978 | TPRN | c.1422C>A (p.Tyr474Ter) c.816C>A (p.Tyr272Ter) n.90+4814C>A | |
| 9 | g.137199291T>A | CA375776002 | TPRN | c.1421A>T (p.Tyr474Phe) c.815A>T (p.Tyr272Phe) n.90+4813A>T | |
| 9 | g.137199291T>C | CA375776005 | TPRN | c.1421A>G (p.Tyr474Cys) c.815A>G (p.Tyr272Cys) n.90+4813A>G | |
| 9 | g.137199291T>G | CA375776006 | TPRN | c.1421A>C (p.Tyr474Ser) c.815A>C (p.Tyr272Ser) n.90+4813A>C | |
| 9 | g.137199292A>C | CA375776009 | TPRN | c.1420T>G (p.Tyr474Asp) c.814T>G (p.Tyr272Asp) n.90+4812T>G | |
| 9 | g.137199292A>G | CA375776008 | TPRN | c.1420T>C (p.Tyr474His) c.814T>C (p.Tyr272His) n.90+4812T>C | |
| 9 | g.137199292A>T | CA375776007 | TPRN | c.1420T>A (p.Tyr474Asn) c.814T>A (p.Tyr272Asn) n.90+4812T>A | |
| 9 | g.137199293G>A | CA467853144 | TPRN | c.1419C>T (p.Pro473=) c.813C>T (p.Pro271=) n.90+4811C>T | gnomAD v4 |
| 9 | g.137199293G>C | CA467853145 | TPRN | c.1419C>G (p.Pro473=) c.813C>G (p.Pro271=) n.90+4811C>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199293G= | CA1884351125 | TPRN | c.1419C= (p.Pro473=) c.813C= (p.Pro271=) n.90+4811C= | |
| 9 | g.137199293G>T | CA467853146 | TPRN | c.1419C>A (p.Pro473=) c.813C>A (p.Pro271=) n.90+4811C>A | |
| 9 | g.137199294G>A | CA5362741 | TPRN | c.1418C>T (p.Pro473Leu) c.812C>T (p.Pro271Leu) n.90+4810C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199294G>C | CA375776012 | TPRN | c.1418C>G (p.Pro473Arg) c.812C>G (p.Pro271Arg) n.90+4810C>G | |
| 9 | g.137199294G= | CA1884351126 | TPRN | c.1418C= (p.Pro473=) c.812C= (p.Pro271=) n.90+4810C= | |
| 9 | g.137199294G>T | CA375776014 | TPRN | c.1418C>A (p.Pro473His) c.812C>A (p.Pro271His) n.90+4810C>A | |
| 9 | g.137199295G>A | CA5362742 | TPRN | c.1417C>T (p.Pro473Ser) c.811C>T (p.Pro271Ser) n.90+4809C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199295G>C | CA375776018 | TPRN | c.1417C>G (p.Pro473Ala) c.811C>G (p.Pro271Ala) n.90+4809C>G | |
| 9 | g.137199295G= | CA1884351127 | TPRN | c.1417C= (p.Pro473=) c.811C= (p.Pro271=) n.90+4809C= | |
| 9 | g.137199295G>T | CA375776022 | TPRN | c.1417C>A (p.Pro473Thr) c.811C>A (p.Pro271Thr) n.90+4809C>A | |
| 9 | g.137199296T>A | CA5362743 | TPRN | c.1416A>T (p.Leu472=) c.810A>T (p.Leu270=) n.90+4808A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199296T>C | CA5362744 | TPRN | c.1416A>G (p.Leu472=) c.810A>G (p.Leu270=) n.90+4808A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199296T>G | CA467853147 | TPRN | c.1416A>C (p.Leu472=) c.810A>C (p.Leu270=) n.90+4808A>C | |
| 9 | g.137199296T= | CA1884351128 | TPRN | c.1416A= (p.Leu472=) c.810A= (p.Leu270=) n.90+4808A= | |
| 9 | g.137199297A>C | CA375776023 | TPRN | c.1415T>G (p.Leu472Arg) c.809T>G (p.Leu270Arg) n.90+4807T>G | |
| 9 | g.137199297A>G | CA375776024 | TPRN | c.1415T>C (p.Leu472Pro) c.809T>C (p.Leu270Pro) n.90+4807T>C | |
| 9 | g.137199297A>T | CA375776026 | TPRN | c.1415T>A (p.Leu472Gln) c.809T>A (p.Leu270Gln) n.90+4807T>A | |
| 9 | g.137199298G>A | CA467853148 | TPRN | c.1414C>T (p.Leu472=) c.808C>T (p.Leu270=) n.90+4806C>T | |
| 9 | g.137199298G>C | CA375776028 | TPRN | c.1414C>G (p.Leu472Val) c.808C>G (p.Leu270Val) n.90+4806C>G | |
| 9 | g.137199298G>T | CA375776031 | TPRN | c.1414C>A (p.Leu472Ile) c.808C>A (p.Leu270Ile) n.90+4806C>A |