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.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.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 | |
| 9 | g.137199299T>A | CA375776032 | TPRN | c.1413A>T (p.Lys471Asn) c.807A>T (p.Lys269Asn) n.90+4805A>T | |
| 9 | g.137199299T>C | CA467853149 | TPRN | c.1413A>G (p.Lys471=) c.807A>G (p.Lys269=) n.90+4805A>G | |
| 9 | g.137199299T>G | CA375776033 | TPRN | c.1413A>C (p.Lys471Asn) c.807A>C (p.Lys269Asn) n.90+4805A>C | |
| 9 | g.137199300T>A | CA375776034 | TPRN | c.1412A>T (p.Lys471Ile) c.806A>T (p.Lys269Ile) n.90+4804A>T | |
| 9 | g.137199300T>C | CA375776038 | TPRN | c.1412A>G (p.Lys471Arg) c.806A>G (p.Lys269Arg) n.90+4804A>G | |
| 9 | g.137199300T>G | CA375776035 | TPRN | c.1412A>C (p.Lys471Thr) c.806A>C (p.Lys269Thr) n.90+4804A>C | dbSNP |
| 9 | g.137199300T= | CA1884351129 | TPRN | c.1412A= (p.Lys471=) c.806A= (p.Lys269=) n.90+4804A= | |
| 9 | g.137199301T>A | CA375776040 | TPRN | c.1411A>T (p.Lys471Ter) c.805A>T (p.Lys269Ter) n.90+4803A>T | |
| 9 | g.137199301T>C | CA375776046 | TPRN | c.1411A>G (p.Lys471Glu) c.805A>G (p.Lys269Glu) n.90+4803A>G | |
| 9 | g.137199301T>G | CA375776042 | TPRN | c.1411A>C (p.Lys471Gln) c.805A>C (p.Lys269Gln) n.90+4803A>C | |
| 9 | g.137199302G>A | CA467853150 | TPRN | c.1410C>T (p.Ala470=) c.804C>T (p.Ala268=) n.90+4802C>T | |
| 9 | g.137199302G>C | CA467853151 | TPRN | c.1410C>G (p.Ala470=) c.804C>G (p.Ala268=) n.90+4802C>G | |
| 9 | g.137199302G>T | CA467853152 | TPRN | c.1410C>A (p.Ala470=) c.804C>A (p.Ala268=) n.90+4802C>A | |
| 9 | g.137199303G>A | CA375776051 | TPRN | c.1409C>T (p.Ala470Val) c.803C>T (p.Ala268Val) n.90+4801C>T | |
| 9 | g.137199303G>C | CA375776059 | TPRN | c.1409C>G (p.Ala470Gly) c.803C>G (p.Ala268Gly) n.90+4801C>G | |
| 9 | g.137199303G>T | CA375776056 | TPRN | c.1409C>A (p.Ala470Asp) c.803C>A (p.Ala268Asp) n.90+4801C>A | gnomAD v4 |
| 9 | g.137199304C>A | CA375776061 | TPRN | c.1408G>T (p.Ala470Ser) c.802G>T (p.Ala268Ser) n.90+4800G>T | |
| 9 | g.137199304C>G | CA375776066 | TPRN | c.1408G>C (p.Ala470Pro) c.802G>C (p.Ala268Pro) n.90+4800G>C | |
| 9 | g.137199304C>T | CA375776063 | TPRN | c.1408G>A (p.Ala470Thr) c.802G>A (p.Ala268Thr) n.90+4800G>A | |
| 9 | g.137199305T>A | CA467853153 | TPRN | c.1407A>T (p.Ala469=) c.801A>T (p.Ala267=) n.90+4799A>T | |
| 9 | g.137199305T>C | CA467853155 | TPRN | c.1407A>G (p.Ala469=) c.801A>G (p.Ala267=) n.90+4799A>G | gnomAD v4 |
| 9 | g.137199305T>G | CA467853154 | TPRN | c.1407A>C (p.Ala469=) c.801A>C (p.Ala267=) n.90+4799A>C | |
| 9 | g.137199306G>A | CA375776075 | TPRN | c.1406C>T (p.Ala469Val) c.800C>T (p.Ala267Val) n.90+4798C>T | gnomAD v4 |
| 9 | g.137199306G>C | CA375776079 | TPRN | c.1406C>G (p.Ala469Gly) c.800C>G (p.Ala267Gly) n.90+4798C>G | |
| 9 | g.137199306G>T | CA375776080 | TPRN | c.1406C>A (p.Ala469Glu) c.800C>A (p.Ala267Glu) n.90+4798C>A | |
| 9 | g.137199307C>A | CA375776083 | TPRN | c.1405G>T (p.Ala469Ser) c.799G>T (p.Ala267Ser) n.90+4797G>T | |
| 9 | g.137199307C>G | CA375776086 | TPRN | c.1405G>C (p.Ala469Pro) c.799G>C (p.Ala267Pro) n.90+4797G>C | |
| 9 | g.137199307C>T | CA375776088 | TPRN | c.1405G>A (p.Ala469Thr) c.799G>A (p.Ala267Thr) n.90+4797G>A | |
| 9 | g.137199308T>A | CA375776092 | TPRN | c.1404A>T (p.Gln468His) c.798A>T (p.Gln266His) n.90+4796A>T | |
| 9 | g.137199308T>C | CA5362745 | TPRN | c.1404A>G (p.Gln468=) c.798A>G (p.Gln266=) n.90+4796A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199308T>G | CA375776103 | TPRN | c.1404A>C (p.Gln468His) c.798A>C (p.Gln266His) n.90+4796A>C | |
| 9 | g.137199308T= | CA1884351130 | TPRN | c.1404A= (p.Gln468=) c.798A= (p.Gln266=) n.90+4796A= | |
| 9 | g.137199309T>A | CA375776106 | TPRN | c.1403A>T (p.Gln468Leu) c.797A>T (p.Gln266Leu) n.90+4795A>T | |
| 9 | g.137199309T>C | CA375776122 | TPRN | c.1403A>G (p.Gln468Arg) c.797A>G (p.Gln266Arg) n.90+4795A>G | gnomAD v4 |
| 9 | g.137199309T>G | CA375776125 | TPRN | c.1403A>C (p.Gln468Pro) c.797A>C (p.Gln266Pro) n.90+4795A>C | |
| 9 | g.137199309_137199310delinsTG | CA1884351131 | TPRN | c.1402_1403delinsCA (p.Gln468=) c.796_797delinsCA (p.Gln266=) n.90+4794_90+4795delinsCA | |
| 9 | g.137199310G>A | CA375776128 | TPRN | c.1402C>T (p.Gln468Ter) c.796C>T (p.Gln266Ter) n.90+4794C>T | |
| 9 | g.137199310G>C | CA375776136 | TPRN | c.1402C>G (p.Gln468Glu) c.796C>G (p.Gln266Glu) n.90+4794C>G | |
| 9 | g.137199310G>T | CA375776132 | TPRN | c.1402C>A (p.Gln468Lys) c.796C>A (p.Gln266Lys) n.90+4794C>A | gnomAD v4 COSMIC COSMIC |
| 9 | g.137199315dup | CA5362746 | TPRN | c.1402dup (p.Gln468ProfsTer?) c.796dup (p.Gln266ProfsTer?) n.90+4794dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199315del | CA591373024 | TPRN | c.1402del (p.Gln468LysfsTer?) c.796del (p.Gln266LysfsTer?) n.90+4794del | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199311G>A | CA467853156 | TPRN | c.1401C>T (p.Pro467=) c.795C>T (p.Pro265=) n.90+4793C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199311G>C | CA467853157 | TPRN | c.1401C>G (p.Pro467=) c.795C>G (p.Pro265=) n.90+4793C>G | dbSNP gnomAD v4 |
| 9 | g.137199311G= | CA1884351132 | TPRN | c.1401C= (p.Pro467=) c.795C= (p.Pro265=) n.90+4793C= | |
| 9 | g.137199311G>T | CA467853158 | TPRN | c.1401C>A (p.Pro467=) c.795C>A (p.Pro265=) n.90+4793C>A | |
| 9 | g.137199312G>A | CA375776137 | TPRN | c.1400C>T (p.Pro467Leu) c.794C>T (p.Pro265Leu) n.90+4792C>T | |
| 9 | g.137199312G>C | CA5362747 | TPRN | c.1400C>G (p.Pro467Arg) c.794C>G (p.Pro265Arg) n.90+4792C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199312G= | CA1884351133 | TPRN | c.1400C= (p.Pro467=) c.794C= (p.Pro265=) n.90+4792C= | |
| 9 | g.137199312G>T | CA375776138 | TPRN | c.1400C>A (p.Pro467His) c.794C>A (p.Pro265His) n.90+4792C>A | |
| 9 | g.137199313G>A | CA5362748 | TPRN | c.1399C>T (p.Pro467Ser) c.793C>T (p.Pro265Ser) n.90+4791C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199313G>C | CA375776142 | TPRN | c.1399C>G (p.Pro467Ala) c.793C>G (p.Pro265Ala) n.90+4791C>G | |
| 9 | g.137199313G= | CA1884351134 | TPRN | c.1399C= (p.Pro467=) c.793C= (p.Pro265=) n.90+4791C= | |
| 9 | g.137199313G>T | CA375776148 | TPRN | c.1399C>A (p.Pro467Thr) c.793C>A (p.Pro265Thr) n.90+4791C>A | gnomAD v4 |
| 9 | g.137199314G>A | CA467853159 | TPRN | c.1398C>T (p.Ala466=) c.792C>T (p.Ala264=) n.90+4790C>T | |
| 9 | g.137199314G>C | CA467853160 | TPRN | c.1398C>G (p.Ala466=) c.792C>G (p.Ala264=) n.90+4790C>G | |
| 9 | g.137199314G>T | CA467853161 | TPRN | c.1398C>A (p.Ala466=) c.792C>A (p.Ala264=) n.90+4790C>A | gnomAD v4 |
| 9 | g.137199315G>A | CA375776152 | TPRN | c.1397C>T (p.Ala466Val) c.791C>T (p.Ala264Val) n.90+4789C>T | gnomAD v4 |
| 9 | g.137199315G>C | CA375776157 | TPRN | c.1397C>G (p.Ala466Gly) c.791C>G (p.Ala264Gly) n.90+4789C>G | dbSNP |
| 9 | g.137199315G= | CA1884351135 | TPRN | c.1397C= (p.Ala466=) c.791C= (p.Ala264=) n.90+4789C= | |
| 9 | g.137199315G>T | CA375776160 | TPRN | c.1397C>A (p.Ala466Asp) c.791C>A (p.Ala264Asp) n.90+4789C>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199316C>A | CA375776169 | TPRN | c.1396G>T (p.Ala466Ser) c.790G>T (p.Ala264Ser) n.90+4788G>T | dbSNP gnomAD v4 |
| 9 | g.137199316C= | CA1884351136 | TPRN | c.1396G= (p.Ala466=) c.790G= (p.Ala264=) n.90+4788G= | |
| 9 | g.137199316C>G | CA5362749 | TPRN | c.1396G>C (p.Ala466Pro) c.790G>C (p.Ala264Pro) n.90+4788G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199316C>T | CA375776163 | TPRN | c.1396G>A (p.Ala466Thr) c.790G>A (p.Ala264Thr) n.90+4788G>A | gnomAD v4 |
| 9 | g.137199317del | CA2692798348 | TPRN | c.1396del (p.Ala466ProfsTer?) c.790del (p.Ala264ProfsTer?) n.90+4788del | gnomAD v4 |
| 9 | g.137199317C>A | CA375776172 | TPRN | c.1395G>T (p.Glu465Asp) c.789G>T (p.Glu263Asp) n.90+4787G>T | |
| 9 | g.137199317C= | CA1884351137 | TPRN | c.1395G= (p.Glu465=) c.789G= (p.Glu263=) n.90+4787G= | |
| 9 | g.137199317C>G | CA375776173 | TPRN | c.1395G>C (p.Glu465Asp) c.789G>C (p.Glu263Asp) n.90+4787G>C | gnomAD v4 |
| 9 | g.137199317C>T | CA467853162 | TPRN | c.1395G>A (p.Glu465=) c.789G>A (p.Glu263=) n.90+4787G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137199318T>A | CA375776177 | TPRN | c.1394A>T (p.Glu465Val) c.788A>T (p.Glu263Val) n.90+4786A>T | |
| 9 | g.137199318T>C | CA375776180 | TPRN | c.1394A>G (p.Glu465Gly) c.788A>G (p.Glu263Gly) n.90+4786A>G | gnomAD v4 |
| 9 | g.137199318T>G | CA375776183 | TPRN | c.1394A>C (p.Glu465Ala) c.788A>C (p.Glu263Ala) n.90+4786A>C | |
| 9 | g.137199319C>A | CA375776185 | TPRN | c.1393G>T (p.Glu465Ter) c.787G>T (p.Glu263Ter) n.90+4785G>T | |
| 9 | g.137199319C>G | CA375776188 | TPRN | c.1393G>C (p.Glu465Gln) c.787G>C (p.Glu263Gln) n.90+4785G>C | |
| 9 | g.137199319C>T | CA375776190 | TPRN | c.1393G>A (p.Glu465Lys) c.787G>A (p.Glu263Lys) n.90+4785G>A | |
| 9 | g.137199320C>A | CA375776193 | TPRN | c.1392G>T (p.Glu464Asp) c.786G>T (p.Glu262Asp) n.90+4784G>T | |
| 9 | g.137199320C>G | CA375776196 | TPRN | c.1392G>C (p.Glu464Asp) c.786G>C (p.Glu262Asp) n.90+4784G>C | |
| 9 | g.137199320C>T | CA467853163 | TPRN | c.1392G>A (p.Glu464=) c.786G>A (p.Glu262=) n.90+4784G>A | |
| 9 | g.137199321T>A | CA375776198 | TPRN | c.1391A>T (p.Glu464Val) c.785A>T (p.Glu262Val) n.90+4783A>T | |
| 9 | g.137199321T>C | CA375776200 | TPRN | c.1391A>G (p.Glu464Gly) c.785A>G (p.Glu262Gly) n.90+4783A>G | |
| 9 | g.137199321T>G | CA375776202 | TPRN | c.1391A>C (p.Glu464Ala) c.785A>C (p.Glu262Ala) n.90+4783A>C | |
| 9 | g.137199322C>A | CA375776207 | TPRN | c.1390G>T (p.Glu464Ter) c.784G>T (p.Glu262Ter) n.90+4782G>T | |
| 9 | g.137199322C>G | CA375776212 | TPRN | c.1390G>C (p.Glu464Gln) c.784G>C (p.Glu262Gln) n.90+4782G>C | |
| 9 | g.137199322C>T | CA375776210 | TPRN | c.1390G>A (p.Glu464Lys) c.784G>A (p.Glu262Lys) n.90+4782G>A | |
| 9 | g.137199323C>A | CA5362751 | TPRN | c.1389G>T (p.Ser463=) c.783G>T (p.Ser261=) n.90+4781G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199323C= | CA1884351138 | TPRN | c.1389G= (p.Ser463=) c.783G= (p.Ser261=) n.90+4781G= | |
| 9 | g.137199323C>G | CA467924812 | TPRN | c.1389G>C (p.Ser463=) c.783G>C (p.Ser261=) n.90+4781G>C | |
| 9 | g.137199323C>T | CA5362750 | TPRN | c.1389G>A (p.Ser463=) c.783G>A (p.Ser261=) n.90+4781G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199324G>A | CA5362752 | TPRN | c.1388C>T (p.Ser463Leu) c.782C>T (p.Ser261Leu) n.90+4780C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199324G>C | CA375776233 | TPRN | c.1388C>G (p.Ser463Trp) c.782C>G (p.Ser261Trp) n.90+4780C>G | |
| 9 | g.137199324G= | CA1884351139 | TPRN | c.1388C= (p.Ser463=) c.782C= (p.Ser261=) n.90+4780C= | |
| 9 | g.137199324G>T | CA375776235 | TPRN | c.1388C>A (p.Ser463Ter) c.782C>A (p.Ser261Ter) n.90+4780C>A | gnomAD v4 |
| 9 | g.137199325A>C | CA375776238 | TPRN | c.1387T>G (p.Ser463Ala) c.781T>G (p.Ser261Ala) n.90+4779T>G | |
| 9 | g.137199325A>G | CA375776240 | TPRN | c.1387T>C (p.Ser463Pro) c.781T>C (p.Ser261Pro) n.90+4779T>C | |
| 9 | g.137199325A>T | CA375776244 | TPRN | c.1387T>A (p.Ser463Thr) c.781T>A (p.Ser261Thr) n.90+4779T>A | |
| 9 | g.137199325dup | CA2692798386 | TPRN | c.1387dup (p.Ser463PhefsTer?) c.781dup (p.Ser261PhefsTer?) n.90+4779dup | gnomAD v4 |
| 9 | g.137199326G>A | CA467924813 | TPRN | c.1386C>T (p.Asp462=) c.780C>T (p.Asp260=) n.90+4778C>T | gnomAD v4 |
| 9 | g.137199326G>C | CA375776249 | TPRN | c.1386C>G (p.Asp462Glu) c.780C>G (p.Asp260Glu) n.90+4778C>G | |
| 9 | g.137199326G= | CA1884351140 | TPRN | c.1386C= (p.Asp462=) c.780C= (p.Asp260=) n.90+4778C= | |
| 9 | g.137199326G>T | CA5362753 | TPRN | c.1386C>A (p.Asp462Glu) c.780C>A (p.Asp260Glu) n.90+4778C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199327T>A | CA375776264 | TPRN | c.1385A>T (p.Asp462Val) c.779A>T (p.Asp260Val) n.90+4777A>T | |
| 9 | g.137199327T>C | CA375776259 | TPRN | c.1385A>G (p.Asp462Gly) c.779A>G (p.Asp260Gly) n.90+4777A>G | |
| 9 | g.137199327T>G | CA375776255 | TPRN | c.1385A>C (p.Asp462Ala) c.779A>C (p.Asp260Ala) n.90+4777A>C | gnomAD v4 |
| 9 | g.137199328C>A | CA375776267 | TPRN | c.1384G>T (p.Asp462Tyr) c.778G>T (p.Asp260Tyr) n.90+4776G>T | |
| 9 | g.137199328C= | CA1884351141 | TPRN | c.1384G= (p.Asp462=) c.778G= (p.Asp260=) n.90+4776G= | |
| 9 | g.137199328C>G | CA375776269 | TPRN | c.1384G>C (p.Asp462His) c.778G>C (p.Asp260His) n.90+4776G>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137199328C>T | CA375776270 | TPRN | c.1384G>A (p.Asp462Asn) c.778G>A (p.Asp260Asn) n.90+4776G>A | |
| 9 | g.137199329T>A | CA467924814 | TPRN | c.1383A>T (p.Val461=) c.777A>T (p.Val259=) n.90+4775A>T | |
| 9 | g.137199329T>C | CA467924816 | TPRN | c.1383A>G (p.Val461=) c.777A>G (p.Val259=) n.90+4775A>G | |
| 9 | g.137199329T>G | CA467924815 | TPRN | c.1383A>C (p.Val461=) c.777A>C (p.Val259=) n.90+4775A>C | COSMIC COSMIC |
| 9 | g.137199330A>C | CA375776274 | TPRN | c.1382T>G (p.Val461Gly) c.776T>G (p.Val259Gly) n.90+4774T>G | |
| 9 | g.137199330A>G | CA375776284 | TPRN | c.1382T>C (p.Val461Ala) c.776T>C (p.Val259Ala) n.90+4774T>C | |
| 9 | g.137199330A>T | CA375776287 | TPRN | c.1382T>A (p.Val461Glu) c.776T>A (p.Val259Glu) n.90+4774T>A | |
| 9 | g.137199331C>A | CA375776298 | TPRN | c.1381G>T (p.Val461Leu) c.775G>T (p.Val259Leu) n.90+4773G>T | |
| 9 | g.137199331C>G | CA375776295 | TPRN | c.1381G>C (p.Val461Leu) c.775G>C (p.Val259Leu) n.90+4773G>C | |
| 9 | g.137199331C>T | CA375776293 | TPRN | c.1381G>A (p.Val461Ile) c.775G>A (p.Val259Ile) n.90+4773G>A | gnomAD v4 |
| 9 | g.137199332C>A | CA375776302 | TPRN | c.1380G>T (p.Glu460Asp) c.774G>T (p.Glu258Asp) n.90+4772G>T | |
| 9 | g.137199332C= | CA1884351142 | TPRN | c.1380G= (p.Glu460=) c.774G= (p.Glu258=) n.90+4772G= | |
| 9 | g.137199332C>G | CA375776315 | TPRN | c.1380G>C (p.Glu460Asp) c.774G>C (p.Glu258Asp) n.90+4772G>C | |
| 9 | g.137199332C>T | CA5362754 | TPRN | c.1380G>A (p.Glu460=) c.774G>A (p.Glu258=) n.90+4772G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199333T>A | CA375776322 | TPRN | c.1379A>T (p.Glu460Val) c.773A>T (p.Glu258Val) n.90+4771A>T | |
| 9 | g.137199333T>C | CA375776325 | TPRN | c.1379A>G (p.Glu460Gly) c.773A>G (p.Glu258Gly) n.90+4771A>G | gnomAD v4 |
| 9 | g.137199333T>G | CA375776327 | TPRN | c.1379A>C (p.Glu460Ala) c.773A>C (p.Glu258Ala) n.90+4771A>C | |
| 9 | g.137199335_137199337del | CA2580081081 | TPRN | c.1377_1379del (p.Asp459del) c.771_773del (p.Asp257del) n.90+4769_90+4771del | ClinVar |
| 9 | g.137199334C>A | CA375776331 | TPRN | c.1378G>T (p.Glu460Ter) c.772G>T (p.Glu258Ter) n.90+4770G>T | COSMIC COSMIC |
| 9 | g.137199334C>G | CA375776335 | TPRN | c.1378G>C (p.Glu460Gln) c.772G>C (p.Glu258Gln) n.90+4770G>C | |
| 9 | g.137199334C>T | CA375776333 | TPRN | c.1378G>A (p.Glu460Lys) c.772G>A (p.Glu258Lys) n.90+4770G>A | |
| 9 | g.137199335A= | CA1884351143 | TPRN | c.1377T= (p.Asp459=) c.771T= (p.Asp257=) n.90+4769T= | |
| 9 | g.137199335A>C | CA375776337 | TPRN | c.1377T>G (p.Asp459Glu) c.771T>G (p.Asp257Glu) n.90+4769T>G | |
| 9 | g.137199335A>G | CA5362755 | TPRN | c.1377T>C (p.Asp459=) c.771T>C (p.Asp257=) n.90+4769T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137199335A>T | CA375776341 | TPRN | c.1377T>A (p.Asp459Glu) c.771T>A (p.Asp257Glu) n.90+4769T>A | |
| 9 | g.137199336T>A | CA375776343 | TPRN | c.1376A>T (p.Asp459Val) c.770A>T (p.Asp257Val) n.90+4768A>T | |
| 9 | g.137199336T>C | CA5362756 | TPRN | c.1376A>G (p.Asp459Gly) c.770A>G (p.Asp257Gly) n.90+4768A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137199336T>G | CA375776349 | TPRN | c.1376A>C (p.Asp459Ala) c.770A>C (p.Asp257Ala) n.90+4768A>C | |
| 9 | g.137199336T= | CA1884351144 | TPRN | c.1376A= (p.Asp459=) c.770A= (p.Asp257=) n.90+4768A= | |
| 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 |