Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.140113537_140114444delinsGAGGTGGG | CA2739275106 | PURA | c.-141-504_263delinsGAGGTGGG | 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_140114285dup | CA2675565403 | PURA | c.96_104dup (p.Gly35_Gly36insGlyGlyGly) n.561_569dup | gnomAD v4 |
5 | g.140114277_140114285del | CA2675565404 | PURA | c.96_104del (p.Gly33_Gly35del) n.561_569del | gnomAD v4 |
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.140114283T>A | CA446758545 | PURA | c.102T>A (p.Gly34=) n.567T>A | |
5 | g.140114283T>C | CA446758547 | PURA | c.102T>C (p.Gly34=) n.567T>C | ClinVar dbSNP gnomAD v4 |
5 | g.140114283T>G | CA446758549 | PURA | c.102T>G (p.Gly34=) n.567T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.140114283T= | CA1586593190 | PURA | c.102T= (p.Gly34=) n.567T= | |
5 | g.140114284G>A | CA361489287 | PURA | c.103G>A (p.Gly35Ser) n.568G>A | gnomAD v4 |
5 | g.140114284G>C | CA361489288 | PURA | c.103G>C (p.Gly35Arg) n.568G>C | |
5 | g.140114284G>T | CA361489286 | PURA | c.103G>T (p.Gly35Cys) n.568G>T | |
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.140114285G>A | CA361489290 | PURA | c.104G>A (p.Gly35Asp) n.569G>A | gnomAD v4 |
5 | g.140114285G>C | CA361489292 | PURA | c.104G>C (p.Gly35Ala) n.569G>C | |
5 | g.140114285G>T | CA361489294 | PURA | c.104G>T (p.Gly35Val) n.569G>T | |
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 |