| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137199335_137199337del | CA2580081081 | TPRN | c.1377_1379del (p.Asp459del) c.771_773del (p.Asp257del) n.90+4769_90+4771del | ClinVar |
| 9 | g.137199336_137199337delinsTC | CA1884351145 | TPRN | c.1375_1376delinsGA (p.Asp459=) c.769_770delinsGA (p.Asp257=) n.90+4767_90+4768delinsGA | |
| 9 | g.137199337del | CA1884351147 | TPRN | c.1375del (p.Asp459MetfsTer3) c.769del (p.Asp257MetfsTer3) n.90+4767del | dbSNP |
| 9 | g.137199337C>A | CA375776352 | TPRN | c.1375G>T (p.Asp459Tyr) c.769G>T (p.Asp257Tyr) n.90+4767G>T | |
| 9 | g.137199337C= | CA1884351146 | TPRN | c.1375G= (p.Asp459=) c.769G= (p.Asp257=) n.90+4767G= | |
| 9 | g.137199337C>G | CA375776354 | TPRN | c.1375G>C (p.Asp459His) c.769G>C (p.Asp257His) n.90+4767G>C | |
| 9 | g.137199337C>T | CA375776356 | TPRN | c.1375G>A (p.Asp459Asn) c.769G>A (p.Asp257Asn) n.90+4767G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199338G>A | CA5362757 | TPRN | c.1374C>T (p.Ile458=) c.768C>T (p.Ile256=) n.90+4766C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199338G>C | CA375776361 | TPRN | c.1374C>G (p.Ile458Met) c.768C>G (p.Ile256Met) n.90+4766C>G | dbSNP |
| 9 | g.137199338G= | CA1884351148 | TPRN | c.1374C= (p.Ile458=) c.768C= (p.Ile256=) n.90+4766C= | |
| 9 | g.137199338G>T | CA467924818 | TPRN | c.1374C>A (p.Ile458=) c.768C>A (p.Ile256=) n.90+4766C>A | |
| 9 | g.137199339A>C | CA375776364 | TPRN | c.1373T>G (p.Ile458Ser) c.767T>G (p.Ile256Ser) n.90+4765T>G | |
| 9 | g.137199339A>G | CA375776370 | TPRN | c.1373T>C (p.Ile458Thr) c.767T>C (p.Ile256Thr) n.90+4765T>C | |
| 9 | g.137199339A>T | CA375776367 | TPRN | c.1373T>A (p.Ile458Asn) c.767T>A (p.Ile256Asn) n.90+4765T>A | |
| 9 | g.137199340T>A | CA375776372 | TPRN | c.1372A>T (p.Ile458Phe) c.766A>T (p.Ile256Phe) n.90+4764A>T | |
| 9 | g.137199340T>C | CA375776373 | TPRN | c.1372A>G (p.Ile458Val) c.766A>G (p.Ile256Val) n.90+4764A>G | |
| 9 | g.137199340T>G | CA375776375 | TPRN | c.1372A>C (p.Ile458Leu) c.766A>C (p.Ile256Leu) n.90+4764A>C | |
| 9 | g.137199341G>A | CA201721042 | TPRN | c.1371C>T (p.Phe457=) c.765C>T (p.Phe255=) n.90+4763C>T | dbSNP |
| 9 | g.137199341G>C | CA375776378 | TPRN | c.1371C>G (p.Phe457Leu) c.765C>G (p.Phe255Leu) n.90+4763C>G | |
| 9 | g.137199341G= | CA1884351149 | TPRN | c.1371C= (p.Phe457=) c.765C= (p.Phe255=) n.90+4763C= | |
| 9 | g.137199341G>T | CA375776381 | TPRN | c.1371C>A (p.Phe457Leu) c.765C>A (p.Phe255Leu) n.90+4763C>A | dbSNP |
| 9 | g.137199342A>C | CA375776384 | TPRN | c.1370T>G (p.Phe457Cys) c.764T>G (p.Phe255Cys) n.90+4762T>G | |
| 9 | g.137199342A>G | CA375776387 | TPRN | c.1370T>C (p.Phe457Ser) c.764T>C (p.Phe255Ser) n.90+4762T>C | |
| 9 | g.137199342A>T | CA375776390 | TPRN | c.1370T>A (p.Phe457Tyr) c.764T>A (p.Phe255Tyr) n.90+4762T>A | |
| 9 | g.137199343A= | CA1884351150 | TPRN | c.1369T= (p.Phe457=) c.763T= (p.Phe255=) n.90+4761T= | |
| 9 | g.137199343A>C | CA375776393 | TPRN | c.1369T>G (p.Phe457Val) c.763T>G (p.Phe255Val) n.90+4761T>G | gnomAD v4 |
| 9 | g.137199343A>G | CA375776394 | TPRN | c.1369T>C (p.Phe457Leu) c.763T>C (p.Phe255Leu) n.90+4761T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199343A>T | CA375776397 | TPRN | c.1369T>A (p.Phe457Ile) c.763T>A (p.Phe255Ile) n.90+4761T>A | |
| 9 | g.137199344G>A | CA467924931 | TPRN | c.1368C>T (p.Thr456=) c.762C>T (p.Thr254=) n.90+4760C>T | dbSNP gnomAD v4 |
| 9 | g.137199344G>C | CA467924929 | TPRN | c.1368C>G (p.Thr456=) c.762C>G (p.Thr254=) n.90+4760C>G | gnomAD v4 |
| 9 | g.137199344G= | CA1884351151 | TPRN | c.1368C= (p.Thr456=) c.762C= (p.Thr254=) n.90+4760C= | |
| 9 | g.137199344G>T | CA467924930 | TPRN | c.1368C>A (p.Thr456=) c.762C>A (p.Thr254=) n.90+4760C>A | |
| 9 | g.137199345G>A | CA375776415 | TPRN | c.1367C>T (p.Thr456Ile) c.761C>T (p.Thr254Ile) n.90+4759C>T | gnomAD v4 |
| 9 | g.137199345G>C | CA375776413 | TPRN | c.1367C>G (p.Thr456Ser) c.761C>G (p.Thr254Ser) n.90+4759C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199345G= | CA1884351152 | TPRN | c.1367C= (p.Thr456=) c.761C= (p.Thr254=) n.90+4759C= | |
| 9 | g.137199345G>T | CA375776400 | TPRN | c.1367C>A (p.Thr456Asn) c.761C>A (p.Thr254Asn) n.90+4759C>A | |
| 9 | g.137199346T>A | CA375776420 | TPRN | c.1366A>T (p.Thr456Ser) c.760A>T (p.Thr254Ser) n.90+4758A>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199346T>C | CA375776421 | TPRN | c.1366A>G (p.Thr456Ala) c.760A>G (p.Thr254Ala) n.90+4758A>G | |
| 9 | g.137199346T>G | CA375776422 | TPRN | c.1366A>C (p.Thr456Pro) c.760A>C (p.Thr254Pro) n.90+4758A>C | |
| 9 | g.137199346T= | CA1884351153 | TPRN | c.1366A= (p.Thr456=) c.760A= (p.Thr254=) n.90+4758A= | |
| 9 | g.137199347G>A | CA467924932 | TPRN | c.1365C>T (p.Val455=) c.759C>T (p.Val253=) n.90+4757C>T | gnomAD v4 |
| 9 | g.137199347G>C | CA467924933 | TPRN | c.1365C>G (p.Val455=) c.759C>G (p.Val253=) n.90+4757C>G | |
| 9 | g.137199347G>T | CA467924934 | TPRN | c.1365C>A (p.Val455=) c.759C>A (p.Val253=) n.90+4757C>A | |
| 9 | g.137199348A>C | CA375776423 | TPRN | c.1364T>G (p.Val455Gly) c.758T>G (p.Val253Gly) n.90+4756T>G | |
| 9 | g.137199348A>G | CA375776425 | TPRN | c.1364T>C (p.Val455Ala) c.758T>C (p.Val253Ala) n.90+4756T>C | |
| 9 | g.137199348A>T | CA375776427 | TPRN | c.1364T>A (p.Val455Asp) c.758T>A (p.Val253Asp) n.90+4756T>A | |
| 9 | g.137199349C>A | CA375776429 | TPRN | c.1363G>T (p.Val455Phe) c.757G>T (p.Val253Phe) n.90+4755G>T | |
| 9 | g.137199349C>G | CA375776430 | TPRN | c.1363G>C (p.Val455Leu) c.757G>C (p.Val253Leu) n.90+4755G>C | |
| 9 | g.137199349C>T | CA375776431 | TPRN | c.1363G>A (p.Val455Ile) c.757G>A (p.Val253Ile) n.90+4755G>A | |
| 9 | g.137199352_137199355del | CA2692798475 | TPRN | c.1360_1363del (p.Pro454SerfsTer7) c.754_757del (p.Pro252SerfsTer7) n.90+4752_90+4755del | gnomAD v4 |
| 9 | g.137199350A>C | CA467924935 | TPRN | c.1362T>G (p.Pro454=) c.756T>G (p.Pro252=) n.90+4754T>G | |
| 9 | g.137199350A>G | CA467924936 | TPRN | c.1362T>C (p.Pro454=) c.756T>C (p.Pro252=) n.90+4754T>C | |
| 9 | g.137199350A>T | CA467924937 | TPRN | c.1362T>A (p.Pro454=) c.756T>A (p.Pro252=) n.90+4754T>A | |
| 9 | g.137199351G>A | CA5362759 | TPRN | c.1361C>T (p.Pro454Leu) c.755C>T (p.Pro252Leu) n.90+4753C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199351G>C | CA5362758 | TPRN | c.1361C>G (p.Pro454Arg) c.755C>G (p.Pro252Arg) n.90+4753C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199351G= | CA1884351154 | TPRN | c.1361C= (p.Pro454=) c.755C= (p.Pro252=) n.90+4753C= | |
| 9 | g.137199351G>T | CA375776436 | TPRN | c.1361C>A (p.Pro454His) c.755C>A (p.Pro252His) n.90+4753C>A | COSMIC COSMIC |
| 9 | g.137199352G>A | CA375776445 | TPRN | c.1360C>T (p.Pro454Ser) c.754C>T (p.Pro252Ser) n.90+4752C>T | |
| 9 | g.137199352G>C | CA375776442 | TPRN | c.1360C>G (p.Pro454Ala) c.754C>G (p.Pro252Ala) n.90+4752C>G | |
| 9 | g.137199352G>T | CA375776439 | TPRN | c.1360C>A (p.Pro454Thr) c.754C>A (p.Pro252Thr) n.90+4752C>A | |
| 9 | g.137199353C>A | CA467924938 | TPRN | c.1359G>T (p.Leu453=) c.753G>T (p.Leu251=) n.90+4751G>T | |
| 9 | g.137199353C= | CA1884351155 | TPRN | c.1359G= (p.Leu453=) c.753G= (p.Leu251=) n.90+4751G= | |
| 9 | g.137199353C>G | CA467924939 | TPRN | c.1359G>C (p.Leu453=) c.753G>C (p.Leu251=) n.90+4751G>C | |
| 9 | g.137199353C>T | CA467924940 | TPRN | c.1359G>A (p.Leu453=) c.753G>A (p.Leu251=) n.90+4751G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199354A>C | CA375776447 | TPRN | c.1358T>G (p.Leu453Arg) c.752T>G (p.Leu251Arg) n.90+4750T>G | gnomAD v4 |
| 9 | g.137199354A>G | CA375776453 | TPRN | c.1358T>C (p.Leu453Pro) c.752T>C (p.Leu251Pro) n.90+4750T>C | |
| 9 | g.137199354A>T | CA375776450 | TPRN | c.1358T>A (p.Leu453Gln) c.752T>A (p.Leu251Gln) n.90+4750T>A | |
| 9 | g.137199355G>A | CA201721057 | TPRN | c.1357C>T (p.Leu453=) c.751C>T (p.Leu251=) n.90+4749C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199355G>C | CA375776483 | TPRN | c.1357C>G (p.Leu453Val) c.751C>G (p.Leu251Val) n.90+4749C>G | |
| 9 | g.137199355G= | CA1884351156 | TPRN | c.1357C= (p.Leu453=) c.751C= (p.Leu251=) n.90+4749C= | |
| 9 | g.137199355G>T | CA375776471 | TPRN | c.1357C>A (p.Leu453Met) c.751C>A (p.Leu251Met) n.90+4749C>A | |
| 9 | g.137199356C>A | CA467924941 | TPRN | c.1356G>T (p.Gly452=) c.750G>T (p.Gly250=) n.90+4748G>T | |
| 9 | g.137199356C>G | CA467924942 | TPRN | c.1356G>C (p.Gly452=) c.750G>C (p.Gly250=) n.90+4748G>C | |
| 9 | g.137199356C>T | CA467924943 | TPRN | c.1356G>A (p.Gly452=) c.750G>A (p.Gly250=) n.90+4748G>A | gnomAD v4 |
| 9 | g.137199357C>A | CA375776486 | TPRN | c.1355G>T (p.Gly452Val) c.749G>T (p.Gly250Val) n.90+4747G>T | gnomAD v4 |
| 9 | g.137199357C>G | CA375776490 | TPRN | c.1355G>C (p.Gly452Ala) c.749G>C (p.Gly250Ala) n.90+4747G>C | |
| 9 | g.137199357C>T | CA375776492 | TPRN | c.1355G>A (p.Gly452Glu) c.749G>A (p.Gly250Glu) n.90+4747G>A | |
| 9 | g.137199358C>A | CA375776498 | TPRN | c.1354G>T (p.Gly452Trp) c.748G>T (p.Gly250Trp) n.90+4746G>T | gnomAD v4 |
| 9 | g.137199358C>G | CA375776500 | TPRN | c.1354G>C (p.Gly452Arg) c.748G>C (p.Gly250Arg) n.90+4746G>C | |
| 9 | g.137199358C>T | CA375776501 | TPRN | c.1354G>A (p.Gly452Arg) c.748G>A (p.Gly250Arg) n.90+4746G>A | |
| 9 | g.137199359C>A | CA467924944 | TPRN | c.1353G>T (p.Pro451=) c.747G>T (p.Pro249=) n.90+4745G>T | |
| 9 | g.137199359C= | CA1884351157 | TPRN | c.1353G= (p.Pro451=) c.747G= (p.Pro249=) n.90+4745G= | |
| 9 | g.137199359C>G | CA467924945 | TPRN | c.1353G>C (p.Pro451=) c.747G>C (p.Pro249=) n.90+4745G>C | gnomAD v4 |
| 9 | g.137199359C>T | CA5362760 | TPRN | c.1353G>A (p.Pro451=) c.747G>A (p.Pro249=) n.90+4745G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199360G>A | CA5362761 | TPRN | c.1352C>T (p.Pro451Leu) c.746C>T (p.Pro249Leu) n.90+4744C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199360G>C | CA201721058 | TPRN | c.1352C>G (p.Pro451Arg) c.746C>G (p.Pro249Arg) n.90+4744C>G | dbSNP gnomAD v4 |
| 9 | g.137199360G= | CA1884351158 | TPRN | c.1352C= (p.Pro451=) c.746C= (p.Pro249=) n.90+4744C= | |
| 9 | g.137199360G>T | CA375776513 | TPRN | c.1352C>A (p.Pro451Gln) c.746C>A (p.Pro249Gln) n.90+4744C>A | |
| 9 | g.137199361G>A | CA375776520 | TPRN | c.1351C>T (p.Pro451Ser) c.745C>T (p.Pro249Ser) n.90+4743C>T | dbSNP gnomAD v4 |
| 9 | g.137199361G>C | CA375776521 | TPRN | c.1351C>G (p.Pro451Ala) c.745C>G (p.Pro249Ala) n.90+4743C>G | |
| 9 | g.137199361G= | CA1884351159 | TPRN | c.1351C= (p.Pro451=) c.745C= (p.Pro249=) n.90+4743C= | |
| 9 | g.137199361G>T | CA375776523 | TPRN | c.1351C>A (p.Pro451Thr) c.745C>A (p.Pro249Thr) n.90+4743C>A | |
| 9 | g.137199362C>A | CA5362762 | TPRN | c.1350G>T (p.Arg450Ser) c.744G>T (p.Arg248Ser) n.90+4742G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199362C= | CA1884351160 | TPRN | c.1350G= (p.Arg450=) c.744G= (p.Arg248=) n.90+4742G= | |
| 9 | g.137199362C>G | CA375776526 | TPRN | c.1350G>C (p.Arg450Ser) c.744G>C (p.Arg248Ser) n.90+4742G>C | |
| 9 | g.137199362C>T | CA467924946 | TPRN | c.1350G>A (p.Arg450=) c.744G>A (p.Arg248=) n.90+4742G>A | |
| 9 | g.137199363C>A | CA375776528 | TPRN | c.1349G>T (p.Arg450Met) c.743G>T (p.Arg248Met) n.90+4741G>T | |
| 9 | g.137199363C>G | CA375776530 | TPRN | c.1349G>C (p.Arg450Thr) c.743G>C (p.Arg248Thr) n.90+4741G>C | |
| 9 | g.137199363C>T | CA375776533 | TPRN | c.1349G>A (p.Arg450Lys) c.743G>A (p.Arg248Lys) n.90+4741G>A | |
| 9 | g.137199364T>A | CA375776535 | TPRN | c.1348A>T (p.Arg450Trp) c.742A>T (p.Arg248Trp) n.90+4740A>T | |
| 9 | g.137199364T>C | CA375776537 | TPRN | c.1348A>G (p.Arg450Gly) c.742A>G (p.Arg248Gly) n.90+4740A>G | |
| 9 | g.137199364T>G | CA467924947 | TPRN | c.1348A>C (p.Arg450=) c.742A>C (p.Arg248=) n.90+4740A>C | |
| 9 | g.137199365del | CA891834503 | TPRN | c.1347del (p.Arg450GlyfsTer12) c.741del (p.Arg248GlyfsTer12) n.90+4739del | |
| 9 | g.137199365C>A | CA467924950 | TPRN | c.1347G>T (p.Val449=) c.741G>T (p.Val247=) n.90+4739G>T | |
| 9 | g.137199365C>G | CA467924948 | TPRN | c.1347G>C (p.Val449=) c.741G>C (p.Val247=) n.90+4739G>C | |
| 9 | g.137199365C>T | CA467924949 | TPRN | c.1347G>A (p.Val449=) c.741G>A (p.Val247=) n.90+4739G>A | |
| 9 | g.137199366A= | CA1884351161 | TPRN | c.1346T= (p.Val449=) c.740T= (p.Val247=) n.90+4738T= | |
| 9 | g.137199366A>C | CA5362763 | TPRN | c.1346T>G (p.Val449Gly) c.740T>G (p.Val247Gly) n.90+4738T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199366A>G | CA375776549 | TPRN | c.1346T>C (p.Val449Ala) c.740T>C (p.Val247Ala) n.90+4738T>C | |
| 9 | g.137199366A>T | CA375776551 | TPRN | c.1346T>A (p.Val449Glu) c.740T>A (p.Val247Glu) n.90+4738T>A | |
| 9 | g.137199367C>A | CA375776556 | TPRN | c.1345G>T (p.Val449Leu) c.739G>T (p.Val247Leu) n.90+4737G>T | |
| 9 | g.137199367C= | CA1884351162 | TPRN | c.1345G= (p.Val449=) c.739G= (p.Val247=) n.90+4737G= | |
| 9 | g.137199367C>G | CA375776564 | TPRN | c.1345G>C (p.Val449Leu) c.739G>C (p.Val247Leu) n.90+4737G>C | |
| 9 | g.137199367C>T | CA5362764 | TPRN | c.1345G>A (p.Val449Met) c.739G>A (p.Val247Met) n.90+4737G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199368A>C | CA375776567 | TPRN | c.1344T>G (p.Tyr448Ter) c.738T>G (p.Tyr246Ter) n.90+4736T>G | gnomAD v4 |
| 9 | g.137199368A>G | CA467924951 | TPRN | c.1344T>C (p.Tyr448=) c.738T>C (p.Tyr246=) n.90+4736T>C | |
| 9 | g.137199368A>T | CA375776577 | TPRN | c.1344T>A (p.Tyr448Ter) c.738T>A (p.Tyr246Ter) n.90+4736T>A | |
| 9 | g.137199369T>A | CA5362765 | TPRN | c.1343A>T (p.Tyr448Phe) c.737A>T (p.Tyr246Phe) n.90+4735A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199369T>C | CA375776586 | TPRN | c.1343A>G (p.Tyr448Cys) c.737A>G (p.Tyr246Cys) n.90+4735A>G | |
| 9 | g.137199369T>G | CA375776589 | TPRN | c.1343A>C (p.Tyr448Ser) c.737A>C (p.Tyr246Ser) n.90+4735A>C | |
| 9 | g.137199369T= | CA1884351163 | TPRN | c.1343A= (p.Tyr448=) c.737A= (p.Tyr246=) n.90+4735A= | |
| 9 | g.137199370A>C | CA375776590 | TPRN | c.1342T>G (p.Tyr448Asp) c.736T>G (p.Tyr246Asp) n.90+4734T>G | |
| 9 | g.137199370A>G | CA375776591 | TPRN | c.1342T>C (p.Tyr448His) c.736T>C (p.Tyr246His) n.90+4734T>C | |
| 9 | g.137199370A>T | CA375776592 | TPRN | c.1342T>A (p.Tyr448Asn) c.736T>A (p.Tyr246Asn) n.90+4734T>A | |
| 9 | g.137199371T>A | CA375776593 | TPRN | c.1341A>T (p.Glu447Asp) c.735A>T (p.Glu245Asp) n.90+4733A>T | |
| 9 | g.137199371T>C | CA467924952 | TPRN | c.1341A>G (p.Glu447=) c.735A>G (p.Glu245=) n.90+4733A>G | |
| 9 | g.137199371T>G | CA375776594 | TPRN | c.1341A>C (p.Glu447Asp) c.735A>C (p.Glu245Asp) n.90+4733A>C | |
| 9 | g.137199372T>A | CA375776596 | TPRN | c.1340A>T (p.Glu447Val) c.734A>T (p.Glu245Val) n.90+4732A>T | |
| 9 | g.137199372T>C | CA375776599 | TPRN | c.1340A>G (p.Glu447Gly) c.734A>G (p.Glu245Gly) n.90+4732A>G | |
| 9 | g.137199372T>G | CA375776601 | TPRN | c.1340A>C (p.Glu447Ala) c.734A>C (p.Glu245Ala) n.90+4732A>C | |
| 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 | |
| 9 | g.137199387G= | CA1884351170 | TPRN | c.1325C= (p.Ala442=) c.719C= (p.Ala240=) n.90+4717C= | |
| 9 | g.137199387G>T | CA375776675 | TPRN | c.1325C>A (p.Ala442Asp) c.719C>A (p.Ala240Asp) n.90+4717C>A | |
| 9 | g.137199388C>A | CA375776681 | TPRN | c.1324G>T (p.Ala442Ser) c.718G>T (p.Ala240Ser) n.90+4716G>T | |
| 9 | g.137199388C>G | CA375776682 | TPRN | c.1324G>C (p.Ala442Pro) c.718G>C (p.Ala240Pro) n.90+4716G>C | |
| 9 | g.137199388C>T | CA375776684 | TPRN | c.1324G>A (p.Ala442Thr) c.718G>A (p.Ala240Thr) n.90+4716G>A | |
| 9 | g.137199389C>A | CA375776691 | TPRN | c.1323G>T (p.Leu441Phe) c.717G>T (p.Leu239Phe) n.90+4715G>T | |
| 9 | g.137199389C= | CA1884351171 | TPRN | c.1323G= (p.Leu441=) c.717G= (p.Leu239=) n.90+4715G= | |
| 9 | g.137199389C>G | CA375776692 | TPRN | c.1323G>C (p.Leu441Phe) c.717G>C (p.Leu239Phe) n.90+4715G>C | |
| 9 | g.137199389C>T | CA467924966 | TPRN | c.1323G>A (p.Leu441=) c.717G>A (p.Leu239=) n.90+4715G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199390A>C | CA375776695 | TPRN | c.1322T>G (p.Leu441Trp) c.716T>G (p.Leu239Trp) n.90+4714T>G | |
| 9 | g.137199390A>G | CA375776700 | TPRN | c.1322T>C (p.Leu441Ser) c.716T>C (p.Leu239Ser) n.90+4714T>C | |
| 9 | g.137199390A>T | CA375776702 | TPRN | c.1322T>A (p.Leu441Ter) c.716T>A (p.Leu239Ter) n.90+4714T>A | |
| 9 | g.137199391A>C | CA375776704 | TPRN | c.1321T>G (p.Leu441Val) c.715T>G (p.Leu239Val) n.90+4713T>G | |
| 9 | g.137199391A>G | CA467924967 | TPRN | c.1321T>C (p.Leu441=) c.715T>C (p.Leu239=) n.90+4713T>C | |
| 9 | g.137199391A>T | CA375776706 | TPRN | c.1321T>A (p.Leu441Met) c.715T>A (p.Leu239Met) n.90+4713T>A | |
| 9 | g.137199392G>A | CA467924969 | TPRN | c.1320C>T (p.Gly440=) c.714C>T (p.Gly238=) n.90+4712C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199392G>C | CA201721078 | TPRN | c.1320C>G (p.Gly440=) c.714C>G (p.Gly238=) n.90+4712C>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.137199392G= | CA1884351172 | TPRN | c.1320C= (p.Gly440=) c.714C= (p.Gly238=) n.90+4712C= | |
| 9 | g.137199392G>T | CA467924968 | TPRN | c.1320C>A (p.Gly440=) c.714C>A (p.Gly238=) n.90+4712C>A | |
| 9 | g.137199393C>A | CA375776710 | TPRN | c.1319G>T (p.Gly440Val) c.713G>T (p.Gly238Val) n.90+4711G>T | |
| 9 | g.137199393C>G | CA375776711 | TPRN | c.1319G>C (p.Gly440Ala) c.713G>C (p.Gly238Ala) n.90+4711G>C | |
| 9 | g.137199393C>T | CA375776708 | TPRN | c.1319G>A (p.Gly440Asp) c.713G>A (p.Gly238Asp) n.90+4711G>A | |
| 9 | g.137199394C>A | CA375776712 | TPRN | c.1318G>T (p.Gly440Cys) c.712G>T (p.Gly238Cys) n.90+4710G>T | |
| 9 | g.137199394C>G | CA375776713 | TPRN | c.1318G>C (p.Gly440Arg) c.712G>C (p.Gly238Arg) n.90+4710G>C | |
| 9 | g.137199394C>T | CA375776715 | TPRN | c.1318G>A (p.Gly440Ser) c.712G>A (p.Gly238Ser) n.90+4710G>A | |
| 9 | g.137199395A>C | CA467924972 | TPRN | c.1317T>G (p.Pro439=) c.711T>G (p.Pro237=) n.90+4709T>G | |
| 9 | g.137199395A>G | CA467924971 | TPRN | c.1317T>C (p.Pro439=) c.711T>C (p.Pro237=) n.90+4709T>C | |
| 9 | g.137199395A>T | CA467924970 | TPRN | c.1317T>A (p.Pro439=) c.711T>A (p.Pro237=) n.90+4709T>A | |
| 9 | g.137199396G>A | CA375776718 | TPRN | c.1316C>T (p.Pro439Leu) c.710C>T (p.Pro237Leu) n.90+4708C>T | |
| 9 | g.137199396G>C | CA375776723 | TPRN | c.1316C>G (p.Pro439Arg) c.710C>G (p.Pro237Arg) n.90+4708C>G | |
| 9 | g.137199396G>T | CA375776726 | TPRN | c.1316C>A (p.Pro439His) c.710C>A (p.Pro237His) n.90+4708C>A | |
| 9 | g.137199397G>A | CA375776728 | TPRN | c.1315C>T (p.Pro439Ser) c.709C>T (p.Pro237Ser) n.90+4707C>T | |
| 9 | g.137199397G>C | CA375776729 | TPRN | c.1315C>G (p.Pro439Ala) c.709C>G (p.Pro237Ala) n.90+4707C>G | |
| 9 | g.137199397G>T | CA375776730 | TPRN | c.1315C>A (p.Pro439Thr) c.709C>A (p.Pro237Thr) n.90+4707C>A | |
| 9 | g.137199398A>C | CA467924974 | TPRN | c.1314T>G (p.Val438=) c.708T>G (p.Val236=) n.90+4706T>G | |
| 9 | g.137199398A>G | CA467924976 | TPRN | c.1314T>C (p.Val438=) c.708T>C (p.Val236=) n.90+4706T>C | |
| 9 | g.137199398A>T | CA467924975 | TPRN | c.1314T>A (p.Val438=) c.708T>A (p.Val236=) n.90+4706T>A | |
| 9 | g.137199399A= | CA1884351173 | TPRN | c.1313T= (p.Val438=) c.707T= (p.Val236=) n.90+4705T= | |
| 9 | g.137199399A>C | CA375776732 | TPRN | c.1313T>G (p.Val438Gly) c.707T>G (p.Val236Gly) n.90+4705T>G | dbSNP |
| 9 | g.137199399A>G | CA375776734 | TPRN | c.1313T>C (p.Val438Ala) c.707T>C (p.Val236Ala) n.90+4705T>C | |
| 9 | g.137199399A>T | CA375776736 | TPRN | c.1313T>A (p.Val438Asp) c.707T>A (p.Val236Asp) n.90+4705T>A | |
| 9 | g.137199400C>A | CA375776739 | TPRN | c.1312G>T (p.Val438Phe) c.706G>T (p.Val236Phe) n.90+4704G>T | |
| 9 | g.137199400C>G | CA375776740 | TPRN | c.1312G>C (p.Val438Leu) c.706G>C (p.Val236Leu) n.90+4704G>C | gnomAD v4 |
| 9 | g.137199400C>T | CA375776738 | TPRN | c.1312G>A (p.Val438Ile) c.706G>A (p.Val236Ile) n.90+4704G>A | |
| 9 | g.137199401C>A | CA375776741 | TPRN | c.1311G>T (p.Arg437Ser) c.705G>T (p.Arg235Ser) n.90+4703G>T | |
| 9 | g.137199401C= | CA1884351174 | TPRN | c.1311G= (p.Arg437=) c.705G= (p.Arg235=) n.90+4703G= | |
| 9 | g.137199401C>G | CA5362770 | TPRN | c.1311G>C (p.Arg437Ser) c.705G>C (p.Arg235Ser) n.90+4703G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199401C>T | CA467924977 | TPRN | c.1311G>A (p.Arg437=) c.705G>A (p.Arg235=) n.90+4703G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199402C>A | CA375776744 | TPRN | c.1310G>T (p.Arg437Met) c.704G>T (p.Arg235Met) n.90+4702G>T | |
| 9 | g.137199402C>G | CA375776747 | TPRN | c.1310G>C (p.Arg437Thr) c.704G>C (p.Arg235Thr) n.90+4702G>C | gnomAD v4 |
| 9 | g.137199402C>T | CA375776750 | TPRN | c.1310G>A (p.Arg437Lys) c.704G>A (p.Arg235Lys) n.90+4702G>A | |
| 9 | g.137199402_137199403del | CA2579529794 | TPRN | c.1309_1310del (p.Arg437GlyfsTer8) c.703_704del (p.Arg235GlyfsTer8) n.90+4701_90+4702del | gnomAD v4 |
| 9 | g.137199403T>A | CA375776752 | TPRN | c.1309A>T (p.Arg437Trp) c.703A>T (p.Arg235Trp) n.90+4701A>T | |
| 9 | g.137199403T>C | CA375776759 | TPRN | c.1309A>G (p.Arg437Gly) c.703A>G (p.Arg235Gly) n.90+4701A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199403T>G | CA467924978 | TPRN | c.1309A>C (p.Arg437=) c.703A>C (p.Arg235=) n.90+4701A>C | |
| 9 | g.137199404G>A | CA467924979 | TPRN | c.1308C>T (p.Leu436=) c.702C>T (p.Leu234=) n.90+4700C>T | |
| 9 | g.137199404G>C | CA467924980 | TPRN | c.1308C>G (p.Leu436=) c.702C>G (p.Leu234=) n.90+4700C>G | |
| 9 | g.137199404G>T | CA467924981 | TPRN | c.1308C>A (p.Leu436=) c.702C>A (p.Leu234=) n.90+4700C>A | |
| 9 | g.137199405A>C | CA375776761 | TPRN | c.1307T>G (p.Leu436Arg) c.701T>G (p.Leu234Arg) n.90+4699T>G | |
| 9 | g.137199405A>G | CA375776770 | TPRN | c.1307T>C (p.Leu436Pro) c.701T>C (p.Leu234Pro) n.90+4699T>C | |
| 9 | g.137199405A>T | CA375776763 | TPRN | c.1307T>A (p.Leu436His) c.701T>A (p.Leu234His) n.90+4699T>A | |
| 9 | g.137199406G>A | CA375776772 | TPRN | c.1306C>T (p.Leu436Phe) c.700C>T (p.Leu234Phe) n.90+4698C>T | |
| 9 | g.137199406G>C | CA375776773 | TPRN | c.1306C>G (p.Leu436Val) c.700C>G (p.Leu234Val) n.90+4698C>G | |
| 9 | g.137199406G>T | CA375776775 | TPRN | c.1306C>A (p.Leu436Ile) c.700C>A (p.Leu234Ile) n.90+4698C>A | |
| 9 | g.137199407G>A | CA5362771 | TPRN | c.1305C>T (p.Gly435=) c.699C>T (p.Gly233=) n.90+4697C>T | dbSNP ExAC gnomAD v2 |
| 9 | g.137199407G>C | CA467924982 | TPRN | c.1305C>G (p.Gly435=) c.699C>G (p.Gly233=) n.90+4697C>G | |
| 9 | g.137199407G= | CA1884351175 | TPRN | c.1305C= (p.Gly435=) c.699C= (p.Gly233=) n.90+4697C= | |
| 9 | g.137199407G>T | CA467924983 | TPRN | c.1305C>A (p.Gly435=) c.699C>A (p.Gly233=) n.90+4697C>A | |
| 9 | g.137199408C>A | CA375776797 | TPRN | c.1304G>T (p.Gly435Val) c.698G>T (p.Gly233Val) n.90+4696G>T | gnomAD v4 |
| 9 | g.137199408C= | CA1884351176 | TPRN | c.1304G= (p.Gly435=) c.698G= (p.Gly233=) n.90+4696G= | |
| 9 | g.137199408C>G | CA375776788 | TPRN | c.1304G>C (p.Gly435Ala) c.698G>C (p.Gly233Ala) n.90+4696G>C | |
| 9 | g.137199408C>T | CA375776785 | TPRN | c.1304G>A (p.Gly435Asp) c.698G>A (p.Gly233Asp) n.90+4696G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199409C>A | CA375776799 | TPRN | c.1303G>T (p.Gly435Cys) c.697G>T (p.Gly233Cys) n.90+4695G>T | |
| 9 | g.137199409C>G | CA375776804 | TPRN | c.1303G>C (p.Gly435Arg) c.697G>C (p.Gly233Arg) n.90+4695G>C | |
| 9 | g.137199409C>T | CA375776801 | TPRN | c.1303G>A (p.Gly435Ser) c.697G>A (p.Gly233Ser) n.90+4695G>A | |
| 9 | g.137199410C>A | CA375776805 | TPRN | c.1302G>T (p.Glu434Asp) c.696G>T (p.Glu232Asp) n.90+4694G>T | |
| 9 | g.137199410C= | CA1884351177 | TPRN | c.1302G= (p.Glu434=) c.696G= (p.Glu232=) n.90+4694G= | |
| 9 | g.137199410C>G | CA375776806 | TPRN | c.1302G>C (p.Glu434Asp) c.696G>C (p.Glu232Asp) n.90+4694G>C | |
| 9 | g.137199410C>T | CA467924984 | TPRN | c.1302G>A (p.Glu434=) c.696G>A (p.Glu232=) n.90+4694G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199411T>A | CA375776807 | TPRN | c.1301A>T (p.Glu434Val) c.695A>T (p.Glu232Val) n.90+4693A>T | |
| 9 | g.137199411T>C | CA375776810 | TPRN | c.1301A>G (p.Glu434Gly) c.695A>G (p.Glu232Gly) n.90+4693A>G | |
| 9 | g.137199411T>G | CA375776809 | TPRN | c.1301A>C (p.Glu434Ala) c.695A>C (p.Glu232Ala) n.90+4693A>C | |
| 9 | g.137199412C>A | CA375776814 | TPRN | c.1300G>T (p.Glu434Ter) c.694G>T (p.Glu232Ter) n.90+4692G>T | |
| 9 | g.137199412C>G | CA375776824 | TPRN | c.1300G>C (p.Glu434Gln) c.694G>C (p.Glu232Gln) n.90+4692G>C | |
| 9 | g.137199412C>T | CA375776827 | TPRN | c.1300G>A (p.Glu434Lys) c.694G>A (p.Glu232Lys) n.90+4692G>A | |
| 9 | g.137199413A>C | CA467924986 | TPRN | c.1299T>G (p.Ala433=) c.693T>G (p.Ala231=) n.90+4691T>G | |
| 9 | g.137199413A>G | CA467924987 | TPRN | c.1299T>C (p.Ala433=) c.693T>C (p.Ala231=) n.90+4691T>C | |
| 9 | g.137199413A>T | CA467924985 | TPRN | c.1299T>A (p.Ala433=) c.693T>A (p.Ala231=) n.90+4691T>A | gnomAD v4 |
| 9 | g.137199414G>A | CA375776833 | TPRN | c.1298C>T (p.Ala433Val) c.692C>T (p.Ala231Val) n.90+4690C>T | gnomAD v4 |
| 9 | g.137199414G>C | CA375776836 | TPRN | c.1298C>G (p.Ala433Gly) c.692C>G (p.Ala231Gly) n.90+4690C>G | |
| 9 | g.137199414G>T | CA375776837 | TPRN | c.1298C>A (p.Ala433Asp) c.692C>A (p.Ala231Asp) n.90+4690C>A | |
| 9 | g.137199415C>A | CA375776839 | TPRN | c.1297G>T (p.Ala433Ser) c.691G>T (p.Ala231Ser) n.90+4689G>T | |
| 9 | g.137199415C= | CA1884351178 | TPRN | c.1297G= (p.Ala433=) c.691G= (p.Ala231=) n.90+4689G= | |
| 9 | g.137199415C>G | CA375776856 | TPRN | c.1297G>C (p.Ala433Pro) c.691G>C (p.Ala231Pro) n.90+4689G>C | |
| 9 | g.137199415C>T | CA201721079 | TPRN | c.1297G>A (p.Ala433Thr) c.691G>A (p.Ala231Thr) n.90+4689G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199416A>C | CA467924988 | TPRN | c.1296T>G (p.Pro432=) c.690T>G (p.Pro230=) n.90+4688T>G | |
| 9 | g.137199416A>G | CA467924989 | TPRN | c.1296T>C (p.Pro432=) c.690T>C (p.Pro230=) n.90+4688T>C | |
| 9 | g.137199416A>T | CA467924990 | TPRN | c.1296T>A (p.Pro432=) c.690T>A (p.Pro230=) n.90+4688T>A | |
| 9 | g.137199417G>A | CA201721083 | TPRN | c.1295C>T (p.Pro432Leu) c.689C>T (p.Pro230Leu) n.90+4687C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199417G>C | CA375776865 | TPRN | c.1295C>G (p.Pro432Arg) c.689C>G (p.Pro230Arg) n.90+4687C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199417G= | CA1884351179 | TPRN | c.1295C= (p.Pro432=) c.689C= (p.Pro230=) n.90+4687C= | |
| 9 | g.137199417G>T | CA201721086 | TPRN | c.1295C>A (p.Pro432His) c.689C>A (p.Pro230His) n.90+4687C>A | dbSNP |
| 9 | g.137199418G>A | CA375776868 | TPRN | c.1294C>T (p.Pro432Ser) c.688C>T (p.Pro230Ser) n.90+4686C>T | gnomAD v4 |
| 9 | g.137199418G>C | CA375776872 | TPRN | c.1294C>G (p.Pro432Ala) c.688C>G (p.Pro230Ala) n.90+4686C>G | |
| 9 | g.137199418G>T | CA375776871 | TPRN | c.1294C>A (p.Pro432Thr) c.688C>A (p.Pro230Thr) n.90+4686C>A | |
| 9 | g.137199419del | CA2692798510 | TPRN | c.1293del (p.Glu431AspfsTer19) c.687del (p.Glu229AspfsTer19) n.90+4685del | gnomAD v4 |
| 9 | g.137199419C>A | CA375776880 | TPRN | c.1293G>T (p.Glu431Asp) c.687G>T (p.Glu229Asp) n.90+4685G>T | |
| 9 | g.137199419C= | CA1884351180 | TPRN | c.1293G= (p.Glu431=) c.687G= (p.Glu229=) n.90+4685G= | |
| 9 | g.137199419C>G | CA375776882 | TPRN | c.1293G>C (p.Glu431Asp) c.687G>C (p.Glu229Asp) n.90+4685G>C | |
| 9 | g.137199419C>T | CA5362772 | TPRN | c.1293G>A (p.Glu431=) c.687G>A (p.Glu229=) n.90+4685G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199420T>A | CA375776886 | TPRN | c.1292A>T (p.Glu431Val) c.686A>T (p.Glu229Val) n.90+4684A>T | |
| 9 | g.137199420T>C | CA375776888 | TPRN | c.1292A>G (p.Glu431Gly) c.686A>G (p.Glu229Gly) n.90+4684A>G | |
| 9 | g.137199420T>G | CA375776889 | TPRN | c.1292A>C (p.Glu431Ala) c.686A>C (p.Glu229Ala) n.90+4684A>C | |
| 9 | g.137199421C>A | CA375776890 | TPRN | c.1291G>T (p.Glu431Ter) c.685G>T (p.Glu229Ter) n.90+4683G>T | |
| 9 | g.137199421C= | CA1884351181 | TPRN | c.1291G= (p.Glu431=) c.685G= (p.Glu229=) n.90+4683G= | |
| 9 | g.137199421C>G | CA375776892 | TPRN | c.1291G>C (p.Glu431Gln) c.685G>C (p.Glu229Gln) n.90+4683G>C | |
| 9 | g.137199421C>T | CA5362773 | TPRN | c.1291G>A (p.Glu431Lys) c.685G>A (p.Glu229Lys) n.90+4683G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199422A>C | CA467924991 | TPRN | c.1290T>G (p.Ala430=) c.684T>G (p.Ala228=) n.90+4682T>G | |
| 9 | g.137199422A>G | CA467924992 | TPRN | c.1290T>C (p.Ala430=) c.684T>C (p.Ala228=) n.90+4682T>C | |
| 9 | g.137199422A>T | CA467924993 | TPRN | c.1290T>A (p.Ala430=) c.684T>A (p.Ala228=) n.90+4682T>A | |
| 9 | g.137199423G>A | CA375776897 | TPRN | c.1289C>T (p.Ala430Val) c.683C>T (p.Ala228Val) n.90+4681C>T | gnomAD v4 |
| 9 | g.137199423G>C | CA375776899 | TPRN | c.1289C>G (p.Ala430Gly) c.683C>G (p.Ala228Gly) n.90+4681C>G | gnomAD v4 |
| 9 | g.137199423G>T | CA375776896 | TPRN | c.1289C>A (p.Ala430Asp) c.683C>A (p.Ala228Asp) n.90+4681C>A | |
| 9 | g.137199424C>A | CA375776902 | TPRN | c.1288G>T (p.Ala430Ser) c.682G>T (p.Ala228Ser) n.90+4680G>T | |
| 9 | g.137199424C>G | CA375776904 | TPRN | c.1288G>C (p.Ala430Pro) c.682G>C (p.Ala228Pro) n.90+4680G>C | |
| 9 | g.137199424C>T | CA375776907 | TPRN | c.1288G>A (p.Ala430Thr) c.682G>A (p.Ala228Thr) n.90+4680G>A | |
| 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.137199425T>A | CA375776910 | TPRN | c.1287A>T (p.Glu429Asp) c.681A>T (p.Glu227Asp) n.90+4679A>T | |
| 9 | g.137199425T>C | CA467924994 | TPRN | c.1287A>G (p.Glu429=) c.681A>G (p.Glu227=) n.90+4679A>G | |
| 9 | g.137199425T>G | CA375776911 | TPRN | c.1287A>C (p.Glu429Asp) c.681A>C (p.Glu227Asp) n.90+4679A>C | |
| 9 | g.137199426T>A | CA375776915 | TPRN | c.1286A>T (p.Glu429Val) c.680A>T (p.Glu227Val) n.90+4678A>T | |
| 9 | g.137199426T>C | CA375776917 | TPRN | c.1286A>G (p.Glu429Gly) c.680A>G (p.Glu227Gly) n.90+4678A>G | |
| 9 | g.137199426T>G | CA375776918 | TPRN | c.1286A>C (p.Glu429Ala) c.680A>C (p.Glu227Ala) n.90+4678A>C | |
| 9 | g.137199427C>A | CA375776920 | TPRN | c.1285G>T (p.Glu429Ter) c.679G>T (p.Glu227Ter) n.90+4677G>T | |
| 9 | g.137199427C>G | CA375776923 | TPRN | c.1285G>C (p.Glu429Gln) c.679G>C (p.Glu227Gln) n.90+4677G>C | |
| 9 | g.137199427C>T | CA375776925 | TPRN | c.1285G>A (p.Glu429Lys) c.679G>A (p.Glu227Lys) n.90+4677G>A | |
| 9 | g.137199428T>A | CA375776927 | TPRN | c.1284A>T (p.Glu428Asp) c.678A>T (p.Glu226Asp) n.90+4676A>T | |
| 9 | g.137199428T>C | CA467924995 | TPRN | c.1284A>G (p.Glu428=) c.678A>G (p.Glu226=) n.90+4676A>G | gnomAD v4 |
| 9 | g.137199428T>G | CA375776928 | TPRN | c.1284A>C (p.Glu428Asp) c.678A>C (p.Glu226Asp) n.90+4676A>C | |
| 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 |