Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.140113537_140114444delinsGAGGTGGG | CA2739275106 | PURA | c.-141-504_263delinsGAGGTGGG | ClinVar |
5 | g.140114162_140114323del | CA2825001390 | PURA | c.-20_142del | ClinVar |
5 | g.140114270_140114288delinsCCGGCGGGGGCGGTGGTGG | CA1586593117 | PURA | c.89_107delinsCCGGCGGGGGCGGTGGTGG (p.Ser30=) n.554_572delinsCCGGCGGGGGCGGTGGTGG | |
5 | g.140114283_140114300dup | CA916082784 | PURA | c.102_119dup (p.Gly40_Gly41insGlyGlyGlyGlyGlyGly) n.567_584dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114283_140114300del | CA563504658 | PURA | c.102_119del (p.Gly35_Gly40del) n.567_584del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114277_140114303dup | CA2675565399 | PURA | c.96_122dup (p.Gly41_Gly42insGlyGlyGlyGlyGlyGlyGlyGlyGly) n.561_587dup | gnomAD v4 |
5 | g.140114277_140114303del | CA2675565400 | PURA | c.96_122del (p.Gly33_Gly41del) n.561_587del | gnomAD v4 |
5 | g.140114275_140114307del | CA2675565401 | PURA | c.94_126del (p.Gly32_Gly42del) n.559_591del | gnomAD v4 |
5 | g.140114277_140114300dup | CA2675565402 | PURA | c.96_119dup (p.Gly40_Gly41insGlyGlyGlyGlyGlyGlyGlyGly) n.561_584dup | gnomAD v4 |
5 | g.140114273_140114346del | CA2513137128 | PURA | c.92_165del (p.Gly31AlafsTer?) | |
5 | g.140114277_140114286delinsGGGCGGTGGT | CA1586593159 | PURA | c.96_105delinsGGGCGGTGGT (p.Gly32=) n.561_570delinsGGGCGGTGGT | |
5 | g.140114277_140114289delinsGGGCGGTGGTGGC | CA1586593155 | PURA | c.96_108delinsGGGCGGTGGTGGC (p.Gly32=) n.561_573delinsGGGCGGTGGTGGC | |
5 | g.140114283_140114291del | CA563504659 | PURA | c.102_110del (p.Gly35_Gly37del) n.567_575del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114283_140114294del | CA128789392 | PURA | c.102_113del (p.Gly35_Gly38del) n.567_578del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114283_140114306dup | CA2675565406 | PURA | c.102_125dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGlyGlyGly) n.567_590dup | gnomAD v4 |
5 | g.140114283_140114306del | CA2578424816 | PURA | c.102_125del (p.Gly35_Gly42del) n.567_590del | ClinVar gnomAD v4 |
5 | g.140114281_140114307del | CA2578424817 | PURA | c.100_126del (p.Gly34_Gly42del) n.565_591del | |
5 | g.140114283_140114318dup | CA1082183760 | PURA | c.102_137dup (p.Gly46_Gly47insGlyGlyGlyGlyGlyGlyGlyGlySerGlyGlyGly) | ClinVar gnomAD v3 gnomAD v4 |
5 | g.140114283_140114324del | CA2675565405 | PURA | c.102_143del (p.Gly35_Gly48del) | gnomAD v4 |
5 | g.140114286_140114288dup | CA2580613679 | PURA | c.105_107dup (p.Gly36_Gly37insGly) n.570_572dup | ClinVar gnomAD v4 |
5 | g.140114286_140114288del | CA2578424818 | PURA | c.105_107del (p.Gly36del) n.570_572del | |
5 | g.140114281_140114308delinsGGTGGTGGCGGCGGGGGCGGCGGCGGCA | CA1586593183 | PURA | c.100_127delinsGGTGGTGGCGGCGGGGGCGGCGGCGGCA (p.Gly34=) n.565_592delinsGGTGGTGGCGGCGGGGGCGGCGGCGGCA | |
5 | g.140114286_140114312del | CA563504660 | PURA | c.105_131del (p.Gly36_Gly44del) n.570_596del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114286_140114294dup | CA2675565407 | PURA | c.105_113dup (p.Gly38_Gly39insGlyGlyGly) n.570_578dup | gnomAD v4 |
5 | g.140114286_140114303dup | CA2675565408 | PURA | c.105_122dup (p.Gly41_Gly42insGlyGlyGlyGlyGlyGly) n.570_587dup | ClinVar gnomAD v4 |
5 | g.140114284_140114307dup | CA2675565409 | PURA | c.103_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGlyGlyGly) n.568_591dup | gnomAD v4 |
5 | g.140114284_140114308delinsGGTGGCGGCGGGGGCGGCGGCGGCA | CA1586593193 | PURA | c.103_127delinsGGTGGCGGCGGGGGCGGCGGCGGCA (p.Gly35=) n.568_592delinsGGTGGCGGCGGGGGCGGCGGCGGCA | |
5 | g.140114295_140114318dup | CA2675565410 | PURA | c.114_137dup (p.Gly46_Gly47insGlyGlyGlyGlySerGlyGlyGly) | gnomAD v4 |
5 | g.140114295_140114318del | CA3437412 | PURA | c.114_137del (p.Gly39_Gly46del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114286T>A | CA446758564 | PURA | c.105T>A (p.Gly35=) n.570T>A | |
5 | g.140114286T>C | CA446758563 | PURA | c.105T>C (p.Gly35=) n.570T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114286T>G | CA446758567 | PURA | c.105T>G (p.Gly35=) n.570T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114286T= | CA1586593199 | PURA | c.105T= (p.Gly35=) n.570T= | |
5 | g.140114286_140114295delinsTGGCGGCGGG | CA1586593210 | PURA | c.105_114delinsTGGCGGCGGG (p.Gly35=) n.570_579delinsTGGCGGCGGG | |
5 | g.140114286_140114298delinsTGGCGGCGGGGGC | CA1586593203 | PURA | c.105_117delinsTGGCGGCGGGGGC (p.Gly35=) n.570_582delinsTGGCGGCGGGGGC | |
5 | g.140114286_140114313delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGC | CA1586593208 | PURA | c.105_132delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGC (p.Gly35=) n.570_597delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGC | |
5 | g.140114286_140114319delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGC | CA1586593201 | PURA | c.105_138delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGC (p.Gly35=) | |
5 | g.140114287G>A | CA361489305 | PURA | c.106G>A (p.Gly36Ser) n.571G>A | gnomAD v4 |
5 | g.140114287G>C | CA361489303 | PURA | c.106G>C (p.Gly36Arg) n.571G>C | gnomAD v4 |
5 | g.140114287G>T | CA361489299 | PURA | c.106G>T (p.Gly36Cys) n.571G>T | gnomAD v4 |
5 | g.140114292_140114294dup | CA804698825 | PURA | c.111_113dup (p.Gly38_Gly39insGly) n.576_578dup | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114289_140114294del | CA2578424820 | PURA | c.108_113del (p.Gly37_Gly38del) n.573_578del | ClinVar gnomAD v4 |
5 | g.140114295_140114303dup | CA1082183776 | PURA | c.114_122dup (p.Gly41_Gly42insGlyGlyGly) n.579_587dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114295_140114303del | CA3437413 | PURA | c.114_122del (p.Gly39_Gly41del) n.579_587del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114295_140114306dup | CA917594027 | PURA | c.114_125dup (p.Gly42_Ser43insGlyGlyGlyGly) n.579_590dup | dbSNP gnomAD v4 |
5 | g.140114295_140114306del | CA804698824 | PURA | c.114_125del (p.Gly39_Gly42del) n.579_590del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114293_140114307dup | CA563504661 | PURA | c.112_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGly) n.577_591dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114290_140114307dup | CA2675565412 | PURA | c.109_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly) n.574_591dup | ClinVar gnomAD v4 |
5 | g.140114293_140114307del | CA2578424819 | PURA | c.112_126del (p.Gly38_Gly42del) n.577_591del | gnomAD v4 |
5 | g.140114295_140114321dup | CA2740094091 | PURA | c.114_140dup (p.Gly47_Gly48insGlyGlyGlyGlySerGlyGlyGlyGly) | ClinVar |
5 | g.140114295_140114321del | CA804698823 | PURA | c.114_140del (p.Gly39_Gly47del) | ClinVar dbSNP gnomAD v4 |
5 | g.140114295_140114324del | CA2675565411 | PURA | c.114_143del (p.Gly39_Gly48del) | gnomAD v4 |
5 | g.140114297_140114329del | CA1082183772 | PURA | c.116_148del (p.Gly39_Gly49del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114288G>A | CA361489307 | PURA | c.107G>A (p.Gly36Asp) n.572G>A | gnomAD v4 |
5 | g.140114288G>C | CA361489309 | PURA | c.107G>C (p.Gly36Ala) n.572G>C | |
5 | g.140114288G>T | CA361489312 | PURA | c.107G>T (p.Gly36Val) n.572G>T | |
5 | g.140114289C>A | CA446758581 | PURA | c.108C>A (p.Gly36=) n.573C>A | gnomAD v4 |
5 | g.140114289C= | CA1586593257 | PURA | c.108C= (p.Gly36=) n.573C= | |
5 | g.140114289C>G | CA446758583 | PURA | c.108C>G (p.Gly36=) n.573C>G | ClinVar dbSNP |
5 | g.140114289C>T | CA446758586 | PURA | c.108C>T (p.Gly36=) n.573C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114289_140114290insAGT | CA2578424821 | PURA | c.108_109insAGT (p.Gly36_Gly37insSer) n.573_574insAGT | |
5 | g.140114290G>A | CA361489314 | PURA | c.109G>A (p.Gly37Ser) n.574G>A | gnomAD v4 |
5 | g.140114290G>C | CA361489317 | PURA | c.109G>C (p.Gly37Arg) n.574G>C | |
5 | g.140114290G= | CA1586593259 | PURA | c.109G= (p.Gly37=) n.574G= | |
5 | g.140114290G>T | CA361489320 | PURA | c.109G>T (p.Gly37Cys) n.574G>T | ClinVar dbSNP gnomAD v4 |
5 | g.140114295_140114300dup | CA913108320 | PURA | c.114_119dup (p.Gly40_Gly41insGlyGly) n.579_584dup | gnomAD v4 |
5 | g.140114295_140114300del | CA2573139224 | PURA | c.114_119del (p.Gly39_Gly40del) n.579_584del | ClinVar dbSNP |
5 | g.140114295_140114315del | CA2675565413 | PURA | c.114_134del (p.Gly39_Gly45del) | ClinVar gnomAD v4 |
5 | g.140114291G>A | CA361489324 | PURA | c.110G>A (p.Gly37Asp) n.575G>A | gnomAD v4 |
5 | g.140114291G>C | CA361489327 | PURA | c.110G>C (p.Gly37Ala) n.575G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114291G= | CA1586593272 | PURA | c.110G= (p.Gly37=) n.575G= | |
5 | g.140114291G>T | CA361489323 | PURA | c.110G>T (p.Gly37Val) n.575G>T | |
5 | g.140114292C>A | CA446758598 | PURA | c.111C>A (p.Gly37=) n.576C>A | gnomAD v4 |
5 | g.140114292C= | CA1586593281 | PURA | c.111C= (p.Gly37=) n.576C= | |
5 | g.140114292C>G | CA446758600 | PURA | c.111C>G (p.Gly37=) n.576C>G | ClinVar gnomAD v4 |
5 | g.140114292C>T | CA446758602 | PURA | c.111C>T (p.Gly37=) n.576C>T | gnomAD v4 |
5 | g.140114293G>A | CA361489333 | PURA | c.112G>A (p.Gly38Arg) n.577G>A | ClinVar gnomAD v4 |
5 | g.140114293G>C | CA361489330 | PURA | c.112G>C (p.Gly38Arg) n.577G>C | gnomAD v4 |
5 | g.140114293G>T | CA361489336 | PURA | c.112G>T (p.Gly38Trp) n.577G>T | gnomAD v4 |
5 | g.140114297dup | CA10602967 | PURA | c.116dup (p.Gly40ArgfsTer?) n.581dup | ClinVar dbSNP |
5 | g.140114295_140114297dup | CA1586593296 | PURA | c.114_116dup (p.Gly39_Gly40insGly) n.579_581dup | dbSNP |
5 | g.140114297del | CA2675565414 | PURA | c.116del (p.Gly39AlafsTer?) n.581del | ClinVar gnomAD v4 |
5 | g.140114295_140114297del | CA2578424822 | PURA | c.114_116del (p.Gly39del) n.579_581del | |
5 | g.140114294G>A | CA361489340 | PURA | c.113G>A (p.Gly38Glu) n.578G>A | |
5 | g.140114294G>C | CA361489344 | PURA | c.113G>C (p.Gly38Ala) n.578G>C | |
5 | g.140114294G>T | CA361489342 | PURA | c.113G>T (p.Gly38Val) n.578G>T | gnomAD v4 |
5 | g.140114295G>A | CA446758614 | PURA | c.114G>A (p.Gly38=) n.579G>A | dbSNP gnomAD v4 |
5 | g.140114295G>C | CA446758616 | PURA | c.114G>C (p.Gly38=) n.579G>C | dbSNP gnomAD v4 |
5 | g.140114295G= | CA1586593306 | PURA | c.114G= (p.Gly38=) n.579G= | |
5 | g.140114295G>T | CA446758619 | PURA | c.114G>T (p.Gly38=) n.579G>T | gnomAD v4 |
5 | g.140114295_140114304delinsGGGCGGCGGC | CA1586593307 | PURA | c.114_123delinsGGGCGGCGGC (p.Gly38=) n.579_588delinsGGGCGGCGGC | |
5 | g.140114295_140114310delinsGGGCGGCGGCGGCAGT | CA1586593303 | PURA | c.114_129delinsGGGCGGCGGCGGCAGT (p.Gly38=) n.579_594delinsGGGCGGCGGCGGCAGT | |
5 | g.140114295_140114313delinsGGGCGGCGGCGGCAGTGGC | CA1586593310 | PURA | c.114_132delinsGGGCGGCGGCGGCAGTGGC (p.Gly38=) n.579_597delinsGGGCGGCGGCGGCAGTGGC | |
5 | g.140114295_140114322delinsGGGCGGCGGCGGCAGTGGCGGCGGCGGC | CA1586593308 | PURA | c.114_141delinsGGGCGGCGGCGGCAGTGGCGGCGGCGGC (p.Gly38=) | |
5 | g.140114296G>A | CA361489348 | PURA | c.115G>A (p.Gly39Ser) n.580G>A | gnomAD v4 |
5 | g.140114296G>C | CA361489351 | PURA | c.115G>C (p.Gly39Arg) n.580G>C | |
5 | g.140114296G>T | CA361489354 | PURA | c.115G>T (p.Gly39Cys) n.580G>T | |
5 | g.140114305_140114307dup | CA804698876 | PURA | c.124_126dup (p.Gly42_Ser43insGly) n.589_591dup | ClinVar dbSNP gnomAD v4 |
5 | g.140114305_140114307del | CA913108321 | PURA | c.124_126del (p.Gly42del) n.589_591del | gnomAD v3 gnomAD v4 |
5 | g.140114302_140114307del | CA1586593339 | PURA | c.121_126del (p.Gly41_Gly42del) n.586_591del | dbSNP |
5 | g.140114299_140114307del | CA804698875 | PURA | c.118_126del (p.Gly40_Gly42del) n.583_591del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114308_140114322dup | CA563504662 | PURA | c.127_141dup (p.Gly47_Gly48insSerGlyGlyGlyGly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114308_140114322del | CA804698874 | PURA | c.127_141del (p.Ser43_Gly47del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114308_140114325dup | CA2675565415 | PURA | c.127_144dup (p.Gly48_Gly49insSerGlyGlyGlyGlyGly) | gnomAD v4 |
5 | g.140114308_140114325del | CA128789393 | PURA | c.127_144del (p.Ser43_Gly48del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114307_140114327dup | CA913108322 | PURA | c.126_146dup (p.Gly49_Ala50insSerGlyGlyGlyGlyGlyGly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114307_140114327del | CA3437414 | PURA | c.126_146del (p.Ser43_Gly49del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114304_140114327del | CA128789394 | PURA | c.123_146del (p.Gly42_Gly49del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114301_140114327del | CA3437415 | PURA | c.120_146del (p.Gly41_Gly49del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.140114297G>A | CA361489361 | PURA | c.116G>A (p.Gly39Asp) n.581G>A | gnomAD v4 |
5 | g.140114297G>C | CA361489363 | PURA | c.116G>C (p.Gly39Ala) n.581G>C | |
5 | g.140114297G>T | CA361489365 | PURA | c.116G>T (p.Gly39Val) n.581G>T | |
5 | g.140114298C>A | CA446758637 | PURA | c.117C>A (p.Gly39=) n.582C>A | gnomAD v4 |
5 | g.140114298C= | CA1586593373 | PURA | c.117C= (p.Gly39=) n.582C= | |
5 | g.140114298C>G | CA128789395 | PURA | c.117C>G (p.Gly39=) n.582C>G | dbSNP |
5 | g.140114298C>T | CA446758640 | PURA | c.117C>T (p.Gly39=) n.582C>T | ClinVar dbSNP gnomAD v4 |
5 | g.140114298_140114299delinsCG | CA1586593369 | PURA | c.117_118delinsCG (p.Gly39=) n.582_583delinsCG | |
5 | g.140114298_140114310delinsCGGCGGCGGCAGT | CA1586593365 | PURA | c.117_129delinsCGGCGGCGGCAGT (p.Gly39=) n.582_594delinsCGGCGGCGGCAGT | |
5 | g.140114299G>A | CA361489369 | PURA | c.118G>A (p.Gly40Ser) n.583G>A | gnomAD v4 |
5 | g.140114299G>C | CA361489371 | PURA | c.118G>C (p.Gly40Arg) n.583G>C | |
5 | g.140114299G>T | CA361489373 | PURA | c.118G>T (p.Gly40Cys) n.583G>T | gnomAD v4 |
5 | g.140114300del | CA915942633 | PURA | c.119del (p.Gly40AlafsTer?) n.584del | ClinVar dbSNP |
5 | g.140114308_140114319dup | CA1082183802 | PURA | c.127_138dup (p.Gly46_Gly47insSerGlyGlyGly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114308_140114319del | CA3437416 | PURA | c.127_138del (p.Ser43_Gly46del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.140114300G>A | CA361489382 | PURA | c.119G>A (p.Gly40Asp) n.584G>A | gnomAD v4 |
5 | g.140114300G>C | CA361489377 | PURA | c.119G>C (p.Gly40Ala) n.584G>C | |
5 | g.140114300G>T | CA361489380 | PURA | c.119G>T (p.Gly40Val) n.584G>T | gnomAD v4 |
5 | g.140114301C>A | CA446758655 | PURA | c.120C>A (p.Gly40=) n.585C>A | gnomAD v4 |
5 | g.140114301C= | CA1586593388 | PURA | c.120C= (p.Gly40=) n.585C= | |
5 | g.140114301C>G | CA446758657 | PURA | c.120C>G (p.Gly40=) n.585C>G | |
5 | g.140114301C>T | CA446758659 | PURA | c.120C>T (p.Gly40=) n.585C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114301_140114310delinsCGGCGGCAGT | CA1586593385 | PURA | c.120_129delinsCGGCGGCAGT (p.Gly40=) n.585_594delinsCGGCGGCAGT | |
5 | g.140114302G>A | CA361489386 | PURA | c.121G>A (p.Gly41Ser) n.586G>A | gnomAD v4 |
5 | g.140114302G>C | CA361489389 | PURA | c.121G>C (p.Gly41Arg) n.586G>C | |
5 | g.140114302G= | CA1586593395 | PURA | c.121G= (p.Gly41=) n.586G= | |
5 | g.140114302G>T | CA361489391 | PURA | c.121G>T (p.Gly41Cys) n.586G>T | |
5 | g.140114308_140114316del | CA3437417 | PURA | c.127_135del (p.Ser43_Gly45del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114303G>A | CA361489398 | PURA | c.122G>A (p.Gly41Asp) n.587G>A | gnomAD v4 |
5 | g.140114303G>C | CA361489401 | PURA | c.122G>C (p.Gly41Ala) n.587G>C | |
5 | g.140114303G>T | CA361489404 | PURA | c.122G>T (p.Gly41Val) n.587G>T | gnomAD v4 |
5 | g.140114304_140114309dup | CA128789396 | PURA | c.123_128dup (p.Ser43_Gly44insGlySer) n.588_593dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114304C>A | CA446758674 | PURA | c.123C>A (p.Gly41=) n.588C>A | gnomAD v4 |
5 | g.140114304C= | CA1586593407 | PURA | c.123C= (p.Gly41=) n.588C= | |
5 | g.140114304C>G | CA446758677 | PURA | c.123C>G (p.Gly41=) n.588C>G | dbSNP gnomAD v4 |
5 | g.140114304C>T | CA446758672 | PURA | c.123C>T (p.Gly41=) n.588C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114307_140114308insGGTGGCGGCGGGGGCGGCGTCGGC | CA2675565416 | PURA | c.126_127insGGTGGCGGCGGGGGCGGCGTCGGC (p.Gly42_Ser43insGlyGlyGlyGlyGlyGlyValGly) n.591_592insGGTGGCGGCGGGGGCGGCGTCGGC | gnomAD v4 |
5 | g.140114305G>A | CA361489410 | PURA | c.124G>A (p.Gly42Ser) n.589G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114305G>C | CA361489413 | PURA | c.124G>C (p.Gly42Arg) n.589G>C | |
5 | g.140114305G= | CA1586593411 | PURA | c.124G= (p.Gly42=) n.589G= | |
5 | g.140114305G>T | CA361489417 | PURA | c.124G>T (p.Gly42Cys) n.589G>T | |
5 | g.140114308_140114313dup | CA2675565417 | PURA | c.127_132dup (p.Gly44_Gly45insSerGly) | gnomAD v4 |
5 | g.140114308_140114313del | CA2675565418 | PURA | c.127_132del (p.Ser43_Gly44del) n.592_597del | gnomAD v4 |
5 | g.140114306G>A | CA361489424 | PURA | c.125G>A (p.Gly42Asp) n.590G>A | gnomAD v4 |
5 | g.140114306G>C | CA361489422 | PURA | c.125G>C (p.Gly42Ala) n.590G>C | |
5 | g.140114306G>T | CA361489419 | PURA | c.125G>T (p.Gly42Val) n.590G>T | gnomAD v4 |
5 | g.140114307_140114309del | CA2578424823 | PURA | c.126_128del (p.Ser43del) n.591_593del | |
5 | g.140114307C>A | CA446758695 | PURA | c.126C>A (p.Gly42=) n.591C>A | |
5 | g.140114307C>G | CA446758693 | PURA | c.126C>G (p.Gly42=) n.591C>G | |
5 | g.140114307C>T | CA446758690 | PURA | c.126C>T (p.Gly42=) n.591C>T | gnomAD v4 |
5 | g.140114307_140114311delinsCAGTG | CA1586593415 | PURA | c.126_130delinsCAGTG (p.Gly42=) n.591_595delinsCAGTG | |
5 | g.140114308A= | CA1586593419 | PURA | c.127A= (p.Ser43=) n.592A= | |
5 | g.140114308A>C | CA361489429 | PURA | c.127A>C (p.Ser43Arg) n.592A>C | gnomAD v4 |
5 | g.140114308A>G | CA361489432 | PURA | c.127A>G (p.Ser43Gly) n.592A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.140114308A>T | CA361489435 | PURA | c.127A>T (p.Ser43Cys) n.592A>T | |
5 | g.140114308_140114311del | CA1139659095 | PURA | c.127_130del (p.Ser43AlafsTer?) n.592_595del | ClinVar dbSNP |
5 | g.140114309G>A | CA361489439 | PURA | c.128G>A (p.Ser43Asn) n.593G>A | dbSNP gnomAD v4 |
5 | g.140114309G>C | CA361489448 | PURA | c.128G>C (p.Ser43Thr) n.593G>C | |
5 | g.140114309G= | CA1586593423 | PURA | c.128G= (p.Ser43=) n.593G= | |
5 | g.140114309G>T | CA361489453 | PURA | c.128G>T (p.Ser43Ile) n.593G>T | gnomAD v4 |
5 | g.140114310_140114312dup | CA1586593422 | PURA | c.129_131dup (p.Gly44_Gly45insGly) n.594_596dup | dbSNP |
5 | g.140114310_140114315dup | CA2675565419 | PURA | c.129_134dup (p.Gly45_Gly46insGlyGly) | gnomAD v4 |
5 | g.140114310_140114324del | CA2675565420 | PURA | c.129_143del (p.Gly44_Gly48del) | gnomAD v4 |
5 | g.140114310T>A | CA361489458 | PURA | c.129T>A (p.Ser43Arg) n.594T>A | |
5 | g.140114310T>C | CA446758710 | PURA | c.129T>C (p.Ser43=) n.594T>C | ClinVar gnomAD v4 |
5 | g.140114310T>G | CA361489461 | PURA | c.129T>G (p.Ser43Arg) n.594T>G | dbSNP gnomAD v4 |
5 | g.140114310T= | CA1586593428 | PURA | c.129T= (p.Ser43=) n.594T= | |
5 | g.140114310_140114319delinsTGGCGGCGGC | CA1586593427 | PURA | c.129_138delinsTGGCGGCGGC (p.Ser43=) | |
5 | g.140114311G>A | CA361489483 | PURA | c.130G>A (p.Gly44Ser) n.595G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114311G>C | CA361489493 | PURA | c.130G>C (p.Gly44Arg) n.595G>C | |
5 | g.140114311G= | CA1586593456 | PURA | c.130G= (p.Gly44=) n.595G= | |
5 | g.140114311G>T | CA361489479 | PURA | c.130G>T (p.Gly44Cys) n.595G>T | gnomAD v4 |
5 | g.140114325_140114327dup | CA3437420 | PURA | c.144_146dup (p.Gly49_Ala50insGly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114322_140114327dup | CA3437418 | PURA | c.141_146dup (p.Gly49_Ala50insGlyGly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114319_140114327dup | CA804698929 | PURA | c.138_146dup (p.Gly49_Ala50insGlyGlyGly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114325_140114327del | CA3437419 | PURA | c.144_146del (p.Gly49del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.140114322_140114327del | CA128789397 | PURA | c.141_146del (p.Gly48_Gly49del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114319_140114327del | CA563504663 | PURA | c.138_146del (p.Gly47_Gly49del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114312G>A | CA361489498 | PURA | c.131G>A (p.Gly44Asp) n.596G>A | gnomAD v4 |
5 | g.140114312G>C | CA361489501 | PURA | c.131G>C (p.Gly44Ala) n.596G>C | |
5 | g.140114312G>T | CA361489504 | PURA | c.131G>T (p.Gly44Val) n.596G>T | |
5 | g.140114313C>A | CA446758737 | PURA | c.132C>A (p.Gly44=) n.597C>A | gnomAD v4 |
5 | g.140114313C= | CA1586593469 | PURA | c.132C= (p.Gly44=) n.597C= | |
5 | g.140114313C>G | CA446758739 | PURA | c.132C>G (p.Gly44=) n.597C>G | |
5 | g.140114313C>T | CA446758734 | PURA | c.132C>T (p.Gly44=) n.597C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114313_140114314insAGT | CA2675565421 | PURA | c.132_133insAGT (p.Gly44_Gly45insSer) | gnomAD v4 |
5 | g.140114314G>A | CA361489508 | PURA | c.133G>A (p.Gly45Ser) | dbSNP gnomAD v4 |
5 | g.140114314G>C | CA361489506 | PURA | c.133G>C (p.Gly45Arg) | |
5 | g.140114314G= | CA1586593475 | PURA | c.133G= (p.Gly45=) | |
5 | g.140114314G>T | CA361489507 | PURA | c.133G>T (p.Gly45Cys) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114322_140114323insAGTGGCGGCGGC | CA2675565422 | PURA | c.141_142insAGTGGCGGCGGC (p.Gly47_Gly48insSerGlyGlyGly) | gnomAD v4 |
5 | g.140114315G>A | CA361489509 | PURA | c.134G>A (p.Gly45Asp) | gnomAD v4 |
5 | g.140114315G>C | CA361489510 | PURA | c.134G>C (p.Gly45Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114315G= | CA1586593480 | PURA | c.134G= (p.Gly45=) | |
5 | g.140114315G>T | CA361489511 | PURA | c.134G>T (p.Gly45Val) | gnomAD v4 |
5 | g.140114316C>A | CA446758750 | PURA | c.135C>A (p.Gly45=) | gnomAD v4 |
5 | g.140114316C= | CA1586593487 | PURA | c.135C= (p.Gly45=) | |
5 | g.140114316C>G | CA446758752 | PURA | c.135C>G (p.Gly45=) | dbSNP gnomAD v4 |
5 | g.140114316C>T | CA446758754 | PURA | c.135C>T (p.Gly45=) | gnomAD v4 |
5 | g.140114316_140114317delinsCG | CA1586593484 | PURA | c.135_136delinsCG (p.Gly45=) | |
5 | g.140114316_140114319dup | CA2695205319 | PURA | c.135_138dup (p.Gly47ArgfsTer?) | |
5 | g.140114317G>A | CA361489513 | PURA | c.136G>A (p.Gly46Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114317G>C | CA361489514 | PURA | c.136G>C (p.Gly46Arg) | |
5 | g.140114317G= | CA1586593498 | PURA | c.136G= (p.Gly46=) | |
5 | g.140114317G>T | CA361489516 | PURA | c.136G>T (p.Gly46Cys) | |
5 | g.140114318_140114319insGGG | CA2578424824 | PURA | c.137_138insGGG (p.Gly46_Gly47insGly) | |
5 | g.140114318del | CA658796650 | PURA | c.137del (p.Gly46AlafsTer?) | ClinVar dbSNP |
5 | g.140114318G>A | CA361489522 | PURA | c.137G>A (p.Gly46Asp) | gnomAD v4 |
5 | g.140114318G>C | CA361489526 | PURA | c.137G>C (p.Gly46Ala) | |
5 | g.140114318G>T | CA361489521 | PURA | c.137G>T (p.Gly46Val) | gnomAD v4 |
5 | g.140114319C>A | CA446758766 | PURA | c.138C>A (p.Gly46=) | gnomAD v4 |
5 | g.140114319C= | CA1586593507 | PURA | c.138C= (p.Gly46=) | |
5 | g.140114319C>G | CA446758768 | PURA | c.138C>G (p.Gly46=) | dbSNP gnomAD v4 |
5 | g.140114319C>T | CA446758770 | PURA | c.138C>T (p.Gly46=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114320G>A | CA361489536 | PURA | c.139G>A (p.Gly47Ser) | ClinVar dbSNP gnomAD v4 |
5 | g.140114320G>C | CA361489530 | PURA | c.139G>C (p.Gly47Arg) | |
5 | g.140114320G= | CA1586593522 | PURA | c.139G= (p.Gly47=) | |
5 | g.140114320G>T | CA361489533 | PURA | c.139G>T (p.Gly47Cys) | gnomAD v4 |
5 | g.140114321G>A | CA361489537 | PURA | c.140G>A (p.Gly47Asp) | gnomAD v4 |
5 | g.140114321G>C | CA361489538 | PURA | c.140G>C (p.Gly47Ala) | |
5 | g.140114321G>T | CA361489540 | PURA | c.140G>T (p.Gly47Val) | gnomAD v4 |
5 | g.140114322del | CA2675565423 | PURA | c.141del (p.Gly48AlafsTer?) | gnomAD v4 |
5 | g.140114322C>A | CA446758781 | PURA | c.141C>A (p.Gly47=) | gnomAD v4 |
5 | g.140114322C= | CA1586593533 | PURA | c.141C= (p.Gly47=) | |
5 | g.140114322C>G | CA446758783 | PURA | c.141C>G (p.Gly47=) | dbSNP gnomAD v4 |
5 | g.140114322C>T | CA3437421 | PURA | c.141C>T (p.Gly47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114323G>A | CA361489548 | PURA | c.142G>A (p.Gly48Ser) | gnomAD v4 |
5 | g.140114323G>C | CA361489555 | PURA | c.142G>C (p.Gly48Arg) | |
5 | g.140114323G>T | CA361489553 | PURA | c.142G>T (p.Gly48Cys) | gnomAD v4 |
5 | g.140114324dup | CA361489560 | PURA | c.143dup (p.Gly49ArgfsTer?) | dbSNP gnomAD v4 |
5 | g.140114323_140114325delinsGGC | CA1586593539 | PURA | c.142_144delinsGGC (p.Gly48=) | |
5 | g.140114324G>A | CA361489565 | PURA | c.143G>A (p.Gly48Asp) | gnomAD v4 |
5 | g.140114324G>C | CA361489569 | PURA | c.143G>C (p.Gly48Ala) | |
5 | g.140114324G>T | CA361489572 | PURA | c.143G>T (p.Gly48Val) | gnomAD v4 |
5 | g.140114324_140114325delinsGC | CA1586593543 | PURA | c.143_144delinsGC (p.Gly48=) | |
5 | g.140114325_140114326del | CA361489576 | PURA | c.144_145del (p.Ala50ProfsTer?) | dbSNP gnomAD v4 |
5 | g.140114325del | CA1139659096 | PURA | c.144del (p.Ala50ProfsTer28) | ClinVar dbSNP gnomAD v4 |
5 | g.140114325C>A | CA446758800 | PURA | c.144C>A (p.Gly48=) | gnomAD v4 |
5 | g.140114325C= | CA1586593552 | PURA | c.144C= (p.Gly48=) | |
5 | g.140114325C>G | CA446758802 | PURA | c.144C>G (p.Gly48=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.140114325C>T | CA446758804 | PURA | c.144C>T (p.Gly48=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114325_140114328delinsCGGG | CA1586593555 | PURA | c.144_147delinsCGGG (p.Gly48=) | |
5 | g.140114326G>A | CA128789398 | PURA | c.145G>A (p.Gly49Arg) | dbSNP gnomAD v4 |
5 | g.140114326G>C | CA361489588 | PURA | c.145G>C (p.Gly49Arg) | |
5 | g.140114326G= | CA1586593568 | PURA | c.145G= (p.Gly49=) | |
5 | g.140114326G>T | CA361489584 | PURA | c.145G>T (p.Gly49Trp) | gnomAD v4 |
5 | g.140114329dup | CA361489581 | PURA | c.148dup (p.Ala50GlyfsTer?) | dbSNP |
5 | g.140114329del | CA1139659097 | PURA | c.148del (p.Ala50ProfsTer28) | ClinVar dbSNP gnomAD v4 |
5 | g.140114327_140114329del | CA1586593561 | PURA | c.146_148del (p.Gly49del) | dbSNP gnomAD v4 |
5 | g.140114327G>A | CA361489594 | PURA | c.146G>A (p.Gly49Glu) | gnomAD v4 |
5 | g.140114327G>C | CA361489596 | PURA | c.146G>C (p.Gly49Ala) | |
5 | g.140114327G= | CA1586593578 | PURA | c.146G= (p.Gly49=) | |
5 | g.140114327G>T | CA3437422 | PURA | c.146G>T (p.Gly49Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114330_140114337dup | CA915942634 | PURA | c.149_156dup (p.Gly53ProfsTer28) | ClinVar dbSNP |
5 | g.140114328G>A | CA446758820 | PURA | c.147G>A (p.Gly49=) | gnomAD v4 |
5 | g.140114328G>C | CA446758822 | PURA | c.147G>C (p.Gly49=) | ClinVar dbSNP gnomAD v4 |
5 | g.140114328G= | CA1586593585 | PURA | c.147G= (p.Gly49=) | |
5 | g.140114328G>T | CA446758823 | PURA | c.147G>T (p.Gly49=) | gnomAD v4 |
5 | g.140114329G>A | CA361489600 | PURA | c.148G>A (p.Ala50Thr) | gnomAD v4 |
5 | g.140114329G>C | CA361489602 | PURA | c.148G>C (p.Ala50Pro) | |
5 | g.140114329G= | CA1586593589 | PURA | c.148G= (p.Ala50=) | |
5 | g.140114329G>T | CA361489605 | PURA | c.148G>T (p.Ala50Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114330C>A | CA361489607 | PURA | c.149C>A (p.Ala50Asp) | gnomAD v4 |
5 | g.140114330C= | CA1586593591 | PURA | c.149C= (p.Ala50=) | |
5 | g.140114330C>G | CA361489609 | PURA | c.149C>G (p.Ala50Gly) | gnomAD v4 |
5 | g.140114330C>T | CA3437423 | PURA | c.149C>T (p.Ala50Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.140114333dup | CA2675565424 | PURA | c.152dup (p.Gly52ArgfsTer?) | gnomAD v4 |
5 | g.140114333del | CA2675565425 | PURA | c.152del (p.Pro51GlnfsTer27) | gnomAD v4 |
5 | g.140114331C>A | CA446758836 | PURA | c.150C>A (p.Ala50=) | gnomAD v4 |
5 | g.140114331C= | CA1586593595 | PURA | c.150C= (p.Ala50=) | |
5 | g.140114331C>G | CA446758838 | PURA | c.150C>G (p.Ala50=) | |
5 | g.140114331C>T | CA3437424 | PURA | c.150C>T (p.Ala50=) | dbSNP ExAC gnomAD v4 |
5 | g.140114332C>A | CA361489621 | PURA | c.151C>A (p.Pro51Thr) | gnomAD v4 |
5 | g.140114332C= | CA1586593601 | PURA | c.151C= (p.Pro51=) | |
5 | g.140114332C>G | CA361489618 | PURA | c.151C>G (p.Pro51Ala) | |
5 | g.140114332C>T | CA361489615 | PURA | c.151C>T (p.Pro51Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114332_140114342del | CA2695205320 | PURA | c.151_161del (p.Pro51AlafsTer?) | |
5 | g.140114333C>A | CA361489624 | PURA | c.152C>A (p.Pro51Gln) | |
5 | g.140114333C>G | CA361489626 | PURA | c.152C>G (p.Pro51Arg) | |
5 | g.140114333C>T | CA361489628 | PURA | c.152C>T (p.Pro51Leu) | gnomAD v4 |
5 | g.140114333_140114334delinsCA | CA1586593604 | PURA | c.152_153delinsCA (p.Pro51=) | |
5 | g.140114334del | CA658796651 | PURA | c.153del (p.Leu54CysfsTer24) | ClinVar dbSNP |
5 | g.140114334A= | CA1586593612 | PURA | c.153A= (p.Pro51=) | |
5 | g.140114334A>C | CA3437425 | PURA | c.153A>C (p.Pro51=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.140114334A>G | CA446758856 | PURA | c.153A>G (p.Pro51=) | gnomAD v4 |
5 | g.140114334A>T | CA3437426 | PURA | c.153A>T (p.Pro51=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114335G>A | CA361489634 | PURA | c.154G>A (p.Gly52Arg) | |
5 | g.140114335G>C | CA361489636 | PURA | c.154G>C (p.Gly52Arg) | |
5 | g.140114335G>T | CA361489638 | PURA | c.154G>T (p.Gly52Trp) | gnomAD v4 |
5 | g.140114340dup | CA645372805 | PURA | c.159dup (p.Leu54AlafsTer?) | ClinVar dbSNP gnomAD v4 |
5 | g.140114340del | CA645548774 | PURA | c.159del (p.Leu54CysfsTer24) | ClinVar gnomAD v4 COSMIC |
5 | g.140114339_140114340del | CA658774046 | PURA | c.158_159del (p.Gly53AlafsTer?) | |
5 | g.140114336G>A | CA3437428 | PURA | c.155G>A (p.Gly52Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.140114336G>C | CA361489648 | PURA | c.155G>C (p.Gly52Ala) | gnomAD v4 |
5 | g.140114336G= | CA1586593634 | PURA | c.155G= (p.Gly52=) | |
5 | g.140114336G>T | CA3437427 | PURA | c.155G>T (p.Gly52Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.140114337G>A | CA3437429 | PURA | c.156G>A (p.Gly52=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114337G>C | CA446758872 | PURA | c.156G>C (p.Gly52=) | |
5 | g.140114337G= | CA1586593641 | PURA | c.156G= (p.Gly52=) | |
5 | g.140114337G>T | CA446758874 | PURA | c.156G>T (p.Gly52=) | gnomAD v4 |
5 | g.140114338G>A | CA361489655 | PURA | c.157G>A (p.Gly53Arg) | gnomAD v4 |
5 | g.140114338G>C | CA361489658 | PURA | c.157G>C (p.Gly53Arg) | |
5 | g.140114338G>T | CA361489661 | PURA | c.157G>T (p.Gly53Trp) | gnomAD v4 |
5 | g.140114339G>A | CA361489667 | PURA | c.158G>A (p.Gly53Glu) | gnomAD v4 |
5 | g.140114339G>C | CA361489673 | PURA | c.158G>C (p.Gly53Ala) | dbSNP gnomAD v4 |
5 | g.140114339G= | CA1586593644 | PURA | c.158G= (p.Gly53=) | |
5 | g.140114339G>T | CA361489669 | PURA | c.158G>T (p.Gly53Val) | dbSNP gnomAD v4 |
5 | g.140114340G>A | CA446758887 | PURA | c.159G>A (p.Gly53=) | dbSNP gnomAD v4 |
5 | g.140114340G>C | CA446758890 | PURA | c.159G>C (p.Gly53=) | gnomAD v4 |
5 | g.140114340G= | CA1586593651 | PURA | c.159G= (p.Gly53=) | |
5 | g.140114340G>T | CA446758892 | PURA | c.159G>T (p.Gly53=) | dbSNP gnomAD v4 |
5 | g.140114341C>A | CA361489678 | PURA | c.160C>A (p.Leu54Met) | gnomAD v4 |
5 | g.140114341C= | CA1586593655 | PURA | c.160C= (p.Leu54=) | |
5 | g.140114341C>G | CA361489683 | PURA | c.160C>G (p.Leu54Val) | gnomAD v4 |
5 | g.140114341C>T | CA446758896 | PURA | c.160C>T (p.Leu54=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114342T>A | CA361489688 | PURA | c.161T>A (p.Leu54Gln) | |
5 | g.140114342T>C | CA361489691 | PURA | c.161T>C (p.Leu54Pro) | gnomAD v4 |
5 | g.140114342T>G | CA361489693 | PURA | c.161T>G (p.Leu54Arg) | |
5 | g.140114343G>A | CA446758910 | PURA | c.162G>A (p.Leu54=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.140114343G>C | CA446758907 | PURA | c.162G>C (p.Leu54=) | |
5 | g.140114343G= | CA1586593659 | PURA | c.162G= (p.Leu54=) | |
5 | g.140114343G>T | CA446758905 | PURA | c.162G>T (p.Leu54=) | gnomAD v4 |
5 | g.140114344C>A | CA361489699 | PURA | c.163C>A (p.Gln55Lys) | gnomAD v4 |
5 | g.140114344C= | CA1586593669 | PURA | c.163C= (p.Gln55=) | |
5 | g.140114344C>G | CA361489701 | PURA | c.163C>G (p.Gln55Glu) | |
5 | g.140114344C>T | CA361489711 | PURA | c.163C>T (p.Gln55Ter) | ClinVar dbSNP gnomAD v4 |
5 | g.140114345A>C | CA361489716 | PURA | c.164A>C (p.Gln55Pro) | |
5 | g.140114345A>G | CA361489719 | PURA | c.164A>G (p.Gln55Arg) | gnomAD v4 |
5 | g.140114345A>T | CA361489722 | PURA | c.164A>T (p.Gln55Leu) | |
5 | g.140114346G>A | CA3437430 | PURA | c.165G>A (p.Gln55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114346G>C | CA361489731 | PURA | c.165G>C (p.Gln55His) | |
5 | g.140114346G= | CA1586593680 | PURA | c.165G= (p.Gln55=) | |
5 | g.140114346G>T | CA361489728 | PURA | c.165G>T (p.Gln55His) | |
5 | g.140114347C>A | CA361489744 | PURA | c.166C>A (p.His56Asn) | gnomAD v4 |
5 | g.140114347C>G | CA361489750 | PURA | c.166C>G (p.His56Asp) | |
5 | g.140114347C>T | CA361489747 | PURA | c.166C>T (p.His56Tyr) | gnomAD v4 |
5 | g.140114348A>C | CA361489755 | PURA | c.167A>C (p.His56Pro) | gnomAD v4 |
5 | g.140114348A>G | CA361489761 | PURA | c.167A>G (p.His56Arg) | |
5 | g.140114348A>T | CA361489758 | PURA | c.167A>T (p.His56Leu) | |
5 | g.140114349C>A | CA361489765 | PURA | c.168C>A (p.His56Gln) | gnomAD v4 |
5 | g.140114349C= | CA1586593687 | PURA | c.168C= (p.His56=) | |
5 | g.140114349C>G | CA361489767 | PURA | c.168C>G (p.His56Gln) | ClinVar gnomAD v4 |
5 | g.140114349C>T | CA3437431 | PURA | c.168C>T (p.His56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114350G>A | CA361489775 | PURA | c.169G>A (p.Glu57Lys) | |
5 | g.140114350G>C | CA361489778 | PURA | c.169G>C (p.Glu57Gln) | ClinVar dbSNP |
5 | g.140114350G>T | CA361489781 | PURA | c.169G>T (p.Glu57Ter) | ClinVar dbSNP gnomAD v4 |
5 | g.140114352_140114353dup | CA2580613680 | PURA | c.171_172dup (p.Thr58ArgfsTer21) | ClinVar dbSNP |
5 | g.140114351A>C | CA361489785 | PURA | c.170A>C (p.Glu57Ala) | |
5 | g.140114351A>G | CA361489788 | PURA | c.170A>G (p.Glu57Gly) | |
5 | g.140114351A>T | CA361489792 | PURA | c.170A>T (p.Glu57Val) | |
5 | g.140114352G>A | CA446830751 | PURA | c.171G>A (p.Glu57=) | |
5 | g.140114352G>C | CA361489796 | PURA | c.171G>C (p.Glu57Asp) | |
5 | g.140114352G>T | CA361489799 | PURA | c.171G>T (p.Glu57Asp) | gnomAD v4 |
5 | g.140114353A>C | CA361489810 | PURA | c.172A>C (p.Thr58Pro) | |
5 | g.140114353A>G | CA361489806 | PURA | c.172A>G (p.Thr58Ala) | |
5 | g.140114353A>T | CA361489804 | PURA | c.172A>T (p.Thr58Ser) | gnomAD v4 |
5 | g.140114354C>A | CA128789399 | PURA | c.173C>A (p.Thr58Lys) | dbSNP gnomAD v4 |
5 | g.140114354C= | CA1586593692 | PURA | c.173C= (p.Thr58=) | |
5 | g.140114354C>G | CA361489815 | PURA | c.173C>G (p.Thr58Arg) | |
5 | g.140114354C>T | CA361489819 | PURA | c.173C>T (p.Thr58Met) | gnomAD v4 |
5 | g.140114354_140114355insT | CA16618121 | PURA | c.173_174insT (p.Gln59AlafsTer?) | ClinVar dbSNP |
5 | g.140114355G>A | CA446830756 | PURA | c.174G>A (p.Thr58=) | gnomAD v4 |
5 | g.140114355G>C | CA446830757 | PURA | c.174G>C (p.Thr58=) | gnomAD v4 |
5 | g.140114355G>T | CA446830758 | PURA | c.174G>T (p.Thr58=) | |
5 | g.140114356C>A | CA361489824 | PURA | c.175C>A (p.Gln59Lys) | gnomAD v4 |
5 | g.140114356C= | CA1586593705 | PURA | c.175C= (p.Gln59=) | |
5 | g.140114356C>G | CA361489827 | PURA | c.175C>G (p.Gln59Glu) | |
5 | g.140114356C>T | CA361489831 | PURA | c.175C>T (p.Gln59Ter) | ClinVar dbSNP |
5 | g.140114357A>C | CA361489835 | PURA | c.176A>C (p.Gln59Pro) | |
5 | g.140114357A>G | CA361489838 | PURA | c.176A>G (p.Gln59Arg) | gnomAD v4 |
5 | g.140114357A>T | CA361489846 | PURA | c.176A>T (p.Gln59Leu) | |
5 | g.140114358G>A | CA446830764 | PURA | c.177G>A (p.Gln59=) | |
5 | g.140114358G>C | CA361489850 | PURA | c.177G>C (p.Gln59His) | |
5 | g.140114358G>T | CA361489858 | PURA | c.177G>T (p.Gln59His) | gnomAD v4 |
5 | g.140114359G>A | CA361489869 | PURA | c.178G>A (p.Glu60Lys) | |
5 | g.140114359G>C | CA361489866 | PURA | c.178G>C (p.Glu60Gln) | |
5 | g.140114359G= | CA1586593710 | PURA | c.178G= (p.Glu60=) | |
5 | g.140114359G>T | CA361489863 | PURA | c.178G>T (p.Glu60Ter) | ClinVar dbSNP |
5 | g.140114360A>C | CA361489873 | PURA | c.179A>C (p.Glu60Ala) | |
5 | g.140114360A>G | CA361489876 | PURA | c.179A>G (p.Glu60Gly) | |
5 | g.140114360A>T | CA361489880 | PURA | c.179A>T (p.Glu60Val) | |
5 | g.140114361G>A | CA446830769 | PURA | c.180G>A (p.Glu60=) | ClinVar gnomAD v4 |
5 | g.140114361G>C | CA361489885 | PURA | c.180G>C (p.Glu60Asp) | |
5 | g.140114361G>T | CA361489887 | PURA | c.180G>T (p.Glu60Asp) | gnomAD v4 |
5 | g.140114362C>A | CA361489891 | PURA | c.181C>A (p.Leu61Met) | gnomAD v4 |
5 | g.140114362C>G | CA361489894 | PURA | c.181C>G (p.Leu61Val) | |
5 | g.140114362C>T | CA446830770 | PURA | c.181C>T (p.Leu61=) | gnomAD v4 |
5 | g.140114362_140114363delinsGG | CA2695205321 | PURA | c.181_182delinsGG (p.Leu61Gly) | |
5 | g.140114363T>A | CA361489897 | PURA | c.182T>A (p.Leu61Gln) | |
5 | g.140114363T>C | CA361489900 | PURA | c.182T>C (p.Leu61Pro) | |
5 | g.140114363T>G | CA361489902 | PURA | c.182T>G (p.Leu61Arg) | |
5 | g.140114364G>A | CA446830773 | PURA | c.183G>A (p.Leu61=) | |
5 | g.140114364G>C | CA446830774 | PURA | c.183G>C (p.Leu61=) | |
5 | g.140114364G>T | CA446830772 | PURA | c.183G>T (p.Leu61=) | gnomAD v4 |
5 | g.140114365G>A | CA361489906 | PURA | c.184G>A (p.Ala62Thr) | gnomAD v4 |
5 | g.140114365G>C | CA361489909 | PURA | c.184G>C (p.Ala62Pro) | |
5 | g.140114365G>T | CA361489911 | PURA | c.184G>T (p.Ala62Ser) | |
5 | g.140114366C>A | CA361489921 | PURA | c.185C>A (p.Ala62Asp) | gnomAD v4 |
5 | g.140114366C>G | CA361489915 | PURA | c.185C>G (p.Ala62Gly) | |
5 | g.140114366C>T | CA361489918 | PURA | c.185C>T (p.Ala62Val) | ClinVar dbSNP |
5 | g.140114367C>A | CA446830778 | PURA | c.186C>A (p.Ala62=) | gnomAD v4 |
5 | g.140114367C= | CA1586593717 | PURA | c.186C= (p.Ala62=) | |
5 | g.140114367C>G | CA446830777 | PURA | c.186C>G (p.Ala62=) | |
5 | g.140114367C>T | CA128789400 | PURA | c.186C>T (p.Ala62=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114368T>A | CA361489925 | PURA | c.187T>A (p.Ser63Thr) | gnomAD v4 |
5 | g.140114368T>C | CA361489928 | PURA | c.187T>C (p.Ser63Pro) | |
5 | g.140114368T>G | CA361489931 | PURA | c.187T>G (p.Ser63Ala) | |
5 | g.140114369C>A | CA361489934 | PURA | c.188C>A (p.Ser63Tyr) | |
5 | g.140114369C>G | CA361489938 | PURA | c.188C>G (p.Ser63Cys) | |
5 | g.140114369C>T | CA361489941 | PURA | c.188C>T (p.Ser63Phe) | |
5 | g.140114370C>A | CA446830783 | PURA | c.189C>A (p.Ser63=) | |
5 | g.140114370C>G | CA446830785 | PURA | c.189C>G (p.Ser63=) | |
5 | g.140114370C>T | CA446830784 | PURA | c.189C>T (p.Ser63=) | gnomAD v4 |
5 | g.140114371A>C | CA361489945 | PURA | c.190A>C (p.Lys64Gln) | |
5 | g.140114371A>G | CA361489948 | PURA | c.190A>G (p.Lys64Glu) | |
5 | g.140114371A>T | CA361489949 | PURA | c.190A>T (p.Lys64Ter) | ClinVar |
5 | g.140114372A>C | CA361489954 | PURA | c.191A>C (p.Lys64Thr) | |
5 | g.140114372A>G | CA361489957 | PURA | c.191A>G (p.Lys64Arg) | |
5 | g.140114372A>T | CA361489959 | PURA | c.191A>T (p.Lys64Met) | |
5 | g.140114373G>A | CA446830789 | PURA | c.192G>A (p.Lys64=) | ClinVar |
5 | g.140114373G>C | CA361489963 | PURA | c.192G>C (p.Lys64Asn) | |
5 | g.140114373G>T | CA361489966 | PURA | c.192G>T (p.Lys64Asn) | gnomAD v4 |
5 | g.140114374C>A | CA446830792 | PURA | c.193C>A (p.Arg65=) | gnomAD v4 |
5 | g.140114374C>G | CA361489972 | PURA | c.193C>G (p.Arg65Gly) | |
5 | g.140114374C>T | CA361489974 | PURA | c.193C>T (p.Arg65Trp) | gnomAD v4 |
5 | g.140114375G>A | CA361489977 | PURA | c.194G>A (p.Arg65Gln) | dbSNP gnomAD v4 |
5 | g.140114375G>C | CA361489981 | PURA | c.194G>C (p.Arg65Pro) | |
5 | g.140114375G= | CA1586593721 | PURA | c.194G= (p.Arg65=) | |
5 | g.140114375G>T | CA361489985 | PURA | c.194G>T (p.Arg65Leu) | ClinVar |
5 | g.140114376G>A | CA446830796 | PURA | c.195G>A (p.Arg65=) | dbSNP gnomAD v4 |
5 | g.140114376G>C | CA446830797 | PURA | c.195G>C (p.Arg65=) | |
5 | g.140114376G= | CA1586593728 | PURA | c.195G= (p.Arg65=) | |
5 | g.140114376G>T | CA446830798 | PURA | c.195G>T (p.Arg65=) | |
5 | g.140114378_140114380del | CA2740094092 | PURA | c.197_199del (p.Val66del) | ClinVar |
5 | g.140114377G>A | CA361489991 | PURA | c.196G>A (p.Val66Met) | |
5 | g.140114377G>C | CA361489995 | PURA | c.196G>C (p.Val66Leu) | |
5 | g.140114377G>T | CA361489997 | PURA | c.196G>T (p.Val66Leu) | gnomAD v4 |
5 | g.140114378T>A | CA361490000 | PURA | c.197T>A (p.Val66Glu) | ClinVar |
5 | g.140114378T>C | CA361490002 | PURA | c.197T>C (p.Val66Ala) | |
5 | g.140114378T>G | CA361490005 | PURA | c.197T>G (p.Val66Gly) | dbSNP |
5 | g.140114379G>A | CA446830801 | PURA | c.198G>A (p.Val66=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114379G>C | CA446830802 | PURA | c.198G>C (p.Val66=) | |
5 | g.140114379G= | CA1586593733 | PURA | c.198G= (p.Val66=) | |
5 | g.140114379G>T | CA446830803 | PURA | c.198G>T (p.Val66=) | gnomAD v4 |
5 | g.140114380G>A | CA361490011 | PURA | c.199G>A (p.Asp67Asn) | |
5 | g.140114380G>C | CA361490014 | PURA | c.199G>C (p.Asp67His) | |
5 | g.140114380G>T | CA361490018 | PURA | c.199G>T (p.Asp67Tyr) | gnomAD v4 |
5 | g.140114381A>C | CA361490026 | PURA | c.200A>C (p.Asp67Ala) | |
5 | g.140114381A>G | CA361490024 | PURA | c.200A>G (p.Asp67Gly) | |
5 | g.140114381A>T | CA361490022 | PURA | c.200A>T (p.Asp67Val) | |
5 | g.140114384_140114392del | CA2580072960 | PURA | c.203_211del (p.Ile68_Asn70del) | ClinVar |
5 | g.140114382C>A | CA361490031 | PURA | c.201C>A (p.Asp67Glu) | |
5 | g.140114382C>G | CA361490033 | PURA | c.201C>G (p.Asp67Glu) | |
5 | g.140114382C>T | CA446830816 | PURA | c.201C>T (p.Asp67=) | ClinVar |
5 | g.140114383A= | CA1586593743 | PURA | c.202A= (p.Ile68=) | |
5 | g.140114383A>C | CA361490037 | PURA | c.202A>C (p.Ile68Leu) | |
5 | g.140114383A>G | CA16618122 | PURA | c.202A>G (p.Ile68Val) | ClinVar dbSNP |
5 | g.140114383A>T | CA361490041 | PURA | c.202A>T (p.Ile68Phe) | |
5 | g.140114384T>A | CA361490046 | PURA | c.203T>A (p.Ile68Asn) | |
5 | g.140114384T>C | CA361490050 | PURA | c.203T>C (p.Ile68Thr) | |
5 | g.140114384T>G | CA361490054 | PURA | c.203T>G (p.Ile68Ser) | |
5 | g.140114385C>A | CA446830824 | PURA | c.204C>A (p.Ile68=) | |
5 | g.140114385C>G | CA361490058 | PURA | c.204C>G (p.Ile68Met) | |
5 | g.140114385C>T | CA446830826 | PURA | c.204C>T (p.Ile68=) | |
5 | g.140114386C>A | CA361490063 | PURA | c.205C>A (p.Gln69Lys) | |
5 | g.140114386C= | CA1586593750 | PURA | c.205C= (p.Gln69=) | |
5 | g.140114386C>G | CA361490065 | PURA | c.205C>G (p.Gln69Glu) | |
5 | g.140114386C>T | CA361490077 | PURA | c.205C>T (p.Gln69Ter) | ClinVar dbSNP |