UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 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 | 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 |