Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.26696528_26696663del | CA2742917359 | ARID1A | c.125_260del (p.Ala42GlufsTer14) c.-13+2911_-13+3046del (n.-13+2911_-13+3046del) c.-13+428_-13+563del (n.-13+428_-13+563del) | |
1 | g.26696599_26696697del | CA2644294059 | ARID1A | c.196_294del (p.Pro66_Pro98del) c.-13+2982_-13+3080del (n.-13+2982_-13+3080del) c.-13+499_-13+597del (n.-13+499_-13+597del) | gnomAD v4 |
1 | g.26696646_26696663dup | CA2644294066 | ARID1A | c.243_260dup (p.Gly87_Ala88insGlyGlyGlyGlyGlyGly) c.-13+3029_-13+3046dup (n.-13+3029_-13+3046dup) c.-13+546_-13+563dup (n.-13+546_-13+563dup) | gnomAD v4 |
1 | g.26696649_26696669del | CA2644294068 | ARID1A | c.246_266del (p.Gly83_Gly89del) c.-13+3032_-13+3052del (n.-13+3032_-13+3052del) c.-13+549_-13+569del (n.-13+549_-13+569del) | gnomAD v4 |
1 | g.26696649_26696667delinsTGGCGGCGGCGGCGGAGCC | CA1160180699 | ARID1A | c.246_264delinsTGGCGGCGGCGGCGGAGCC (p.Gly82=) c.-13+3032_-13+3050delinsTGGCGGCGGCGGCGGAGCC (n.-13+3032_-13+3050delinsTGGCGGCGGCGGCGGAGCC) c.-13+549_-13+567delinsTGGCGGCGGCGGCGGAGCC (n.-13+549_-13+567delinsTGGCGGCGGCGGCGGAGCC) | |
1 | g.26696649_26696673delinsTGGCGGCGGCGGCGGAGCCGGCAGC | CA1160180698 | ARID1A | c.246_270delinsTGGCGGCGGCGGCGGAGCCGGCAGC (p.Gly82=) c.-13+3032_-13+3056delinsTGGCGGCGGCGGCGGAGCCGGCAGC (n.-13+3032_-13+3056delinsTGGCGGCGGCGGCGGAGCCGGCAGC) c.-13+549_-13+573delinsTGGCGGCGGCGGCGGAGCCGGCAGC (n.-13+549_-13+573delinsTGGCGGCGGCGGCGGAGCCGGCAGC) | |
1 | g.26696661_26696663dup | CA521909948 | ARID1A | c.258_260dup (p.Gly87_Ala88insGly) c.-13+3044_-13+3046dup (n.-13+3044_-13+3046dup) c.-13+561_-13+563dup (n.-13+561_-13+563dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.26696658_26696663dup | CA19640479 | ARID1A | c.255_260dup (p.Gly87_Ala88insGlyGly) c.-13+3041_-13+3046dup (n.-13+3041_-13+3046dup) c.-13+558_-13+563dup (n.-13+558_-13+563dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.26696661_26696663del | CA416989334 | ARID1A | c.258_260del (p.Gly87del) c.-13+3044_-13+3046del (n.-13+3044_-13+3046del) c.-13+561_-13+563del (n.-13+561_-13+563del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.26696658_26696663del | CA2644294072 | ARID1A | c.255_260del (p.Gly86_Gly87del) c.-13+3041_-13+3046del (n.-13+3041_-13+3046del) c.-13+558_-13+563del (n.-13+558_-13+563del) | dbSNP gnomAD v4 |
1 | g.26696650_26696670del | CA2644294071 | ARID1A | c.247_267del (p.Gly83_Gly89del) c.-13+3033_-13+3053del (n.-13+3033_-13+3053del) c.-13+550_-13+570del (n.-13+550_-13+570del) | gnomAD v4 |
1 | g.26696653_26696670dup | CA19640480 | ARID1A | c.250_267dup (p.Gly89_Ser90insGlyGlyGlyGlyAlaGly) c.-13+3036_-13+3053dup (n.-13+3036_-13+3053dup) c.-13+553_-13+570dup (n.-13+553_-13+570dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.26696653_26696670del | CA706574 | ARID1A | c.250_267del (p.Gly84_Gly89del) c.-13+3036_-13+3053del (n.-13+3036_-13+3053del) c.-13+553_-13+570del (n.-13+553_-13+570del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.26696658_26696681del | CA734490401 | ARID1A | c.255_278del (p.Gly86_Gly93del) c.-13+3041_-13+3064del (n.-13+3041_-13+3064del) c.-13+558_-13+581del (n.-13+558_-13+581del) | dbSNP gnomAD v4 |
1 | g.26696661_26696777del | CA2644294070 | ARID1A | c.258_374del (p.Gly87_Gly125del) c.-13+3044_-13+3160del (n.-13+3044_-13+3160del) c.-13+561_-13+677del (n.-13+561_-13+677del) | gnomAD v4 |
1 | g.26696661_26696681dup | CA916136410 | ARID1A | c.258_278dup (p.Gly93_Pro94insGlyAlaGlySerGlyGlyGly) c.-13+3044_-13+3064dup (n.-13+3044_-13+3064dup) c.-13+561_-13+581dup (n.-13+561_-13+581dup) | dbSNP gnomAD v4 |
1 | g.26696661_26696681del | CA2574277634 | ARID1A | c.258_278del (p.Gly87_Gly93del) c.-13+3044_-13+3064del (n.-13+3044_-13+3064del) c.-13+561_-13+581del (n.-13+561_-13+581del) | gnomAD v4 |
1 | g.26696656_26696670dup | CA916136411 | ARID1A | c.253_267dup (p.Gly89_Ser90insGlyGlyGlyAlaGly) c.-13+3039_-13+3053dup (n.-13+3039_-13+3053dup) c.-13+556_-13+570dup (n.-13+556_-13+570dup) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.26696664_26696777del | CA2644294074 | ARID1A | c.261_374del (p.Ala88_Gly125del) c.-13+3047_-13+3160del (n.-13+3047_-13+3160del) c.-13+564_-13+677del (n.-13+564_-13+677del) | gnomAD v4 |
1 | g.26696653_26696671delinsGGCGGCGGCGGAGCCGGCA | CA1160180703 | ARID1A | c.250_268delinsGGCGGCGGCGGAGCCGGCA (p.Gly84=) c.-13+3036_-13+3054delinsGGCGGCGGCGGAGCCGGCA (n.-13+3036_-13+3054delinsGGCGGCGGCGGAGCCGGCA) c.-13+553_-13+571delinsGGCGGCGGCGGAGCCGGCA (n.-13+553_-13+571delinsGGCGGCGGCGGAGCCGGCA) | |
1 | g.26696654_26696681delinsGCGGCGGCGGAGCCGGCAGCGGCGGCGG | CA1149118548 | ARID1A | c.251_278delinsGCGGCGGCGGAGCCGGCAGCGGCGGCGG (p.Gly84=) c.-13+3037_-13+3064delinsGCGGCGGCGGAGCCGGCAGCGGCGGCGG (n.-13+3037_-13+3064delinsGCGGCGGCGGAGCCGGCAGCGGCGGCGG) c.-13+554_-13+581delinsGCGGCGGCGGAGCCGGCAGCGGCGGCGG (n.-13+554_-13+581delinsGCGGCGGCGGAGCCGGCAGCGGCGGCGG) | |
1 | g.26696681_26696682insAGCCGGCAGCGGCGGCGGAGCCGGCAGCGGCGGCGG | CA2697552301 | ARID1A | c.278_279insAGCCGGCAGCGGCGGCGGAGCCGGCAGCGGCGGCGG (p.Gly93_Pro94insAlaGlySerGlyGlyGlyAlaGlySerGlyGlyGly) c.-13+3064_-13+3065insAGCCGGCAGCGGCGGCGGAGCCGGCAGCGGCGGCGG (n.-13+3064_-13+3065insAGCCGGCAGCGGCGGCGGAGCCGGCAGCGGCGGCGG) c.-13+581_-13+582insAGCCGGCAGCGGCGGCGGAGCCGGCAGCGGCGGCGG (n.-13+581_-13+582insAGCCGGCAGCGGCGGCGGAGCCGGCAGCGGCGGCGG) | ClinVar |
1 | g.26696664_26696681dup | CA521909949 | ARID1A | c.261_278dup (p.Gly93_Pro94insAlaGlySerGlyGlyGly) c.-13+3047_-13+3064dup (n.-13+3047_-13+3064dup) c.-13+564_-13+581dup (n.-13+564_-13+581dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.26696664_26696681del | CA706575 | ARID1A | c.261_278del (p.Ala88_Gly93del) c.-13+3047_-13+3064del (n.-13+3047_-13+3064del) c.-13+564_-13+581del (n.-13+564_-13+581del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.26696657_26696663del | CA2644294075 | ARID1A | c.254_260del (p.Gly85GlufsTer14) c.-13+3040_-13+3046del (n.-13+3040_-13+3046del) c.-13+557_-13+563del (n.-13+557_-13+563del) | gnomAD v4 |
1 | g.26696656_26696671delinsGGCGGCGGAGCCGGCA | CA1160180705 | ARID1A | c.253_268delinsGGCGGCGGAGCCGGCA (p.Gly85=) c.-13+3039_-13+3054delinsGGCGGCGGAGCCGGCA (n.-13+3039_-13+3054delinsGGCGGCGGAGCCGGCA) c.-13+556_-13+571delinsGGCGGCGGAGCCGGCA (n.-13+556_-13+571delinsGGCGGCGGAGCCGGCA) | |
1 | g.26696664_26696678dup | CA2501633538 | ARID1A | c.261_275dup (p.Gly92_Gly93insAlaGlySerGlyGly) c.-13+3047_-13+3061dup (n.-13+3047_-13+3061dup) c.-13+564_-13+578dup (n.-13+564_-13+578dup) | ClinVar dbSNP gnomAD v4 |
1 | g.26696664_26696678del | CA1139656031 | ARID1A | c.261_275del (p.Ala88_Gly92del) c.-13+3047_-13+3061del (n.-13+3047_-13+3061del) c.-13+564_-13+578del (n.-13+564_-13+578del) | ClinVar dbSNP gnomAD v4 |
1 | g.26696664_26696675del | CA2644294079 | ARID1A | c.261_272del (p.Ala88_Gly91del) c.-13+3047_-13+3058del (n.-13+3047_-13+3058del) c.-13+564_-13+575del (n.-13+564_-13+575del) | gnomAD v4 |
1 | g.26696670_26696698del | CA2644294078 | ARID1A | c.267_295del (p.Ser90ProfsTer11) c.-13+3053_-13+3081del (n.-13+3053_-13+3081del) c.-13+570_-13+598del (n.-13+570_-13+598del) | gnomAD v4 |
1 | g.26696661del | CA2644294080 | ARID1A | c.258del (p.Gly87GlufsTer14) c.-13+3044del (n.-13+3044del) c.-13+561del (n.-13+561del) | gnomAD v4 |
1 | g.26696661C>A | CA416989358 | ARID1A | c.258C>A (p.Gly86=) c.-13+3044C>A (n.-13+3044C>A) c.-13+561C>A (n.-13+561C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.26696661C= | CA1160180708 | ARID1A | c.258C= (p.Gly86=) c.-13+3044C= (n.-13+3044C=) c.-13+561C= (n.-13+561C=) | |
1 | g.26696661C>G | CA416989360 | ARID1A | c.258C>G (p.Gly86=) c.-13+3044C>G (n.-13+3044C>G) c.-13+561C>G (n.-13+561C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.26696661C>T | CA416989361 | ARID1A | c.258C>T (p.Gly86=) c.-13+3044C>T (n.-13+3044C>T) c.-13+561C>T (n.-13+561C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.26696669_26696763del | CA2644294081 | ARID1A | c.266_360del (p.Gly89AlafsTer?) c.-13+3052_-13+3146del (n.-13+3052_-13+3146del) c.-13+569_-13+663del (n.-13+569_-13+663del) | gnomAD v4 |
1 | g.26696661_26696662insCT | CA2644294083 | ARID1A | c.258_259insCT (p.Gly87LeufsTer15) c.-13+3044_-13+3045insCT (n.-13+3044_-13+3045insCT) c.-13+561_-13+562insCT (n.-13+561_-13+562insCT) | gnomAD v4 |
1 | g.26696662G>A | CA339264739 | ARID1A | c.259G>A (p.Gly87Arg) c.-13+3045G>A (n.-13+3045G>A) c.-13+562G>A (n.-13+562G>A) | gnomAD v4 |
1 | g.26696662G>C | CA339264740 | ARID1A | c.259G>C (p.Gly87Arg) c.-13+3045G>C (n.-13+3045G>C) c.-13+562G>C (n.-13+562G>C) | gnomAD v4 |
1 | g.26696662G>T | CA339264741 | ARID1A | c.259G>T (p.Gly87Ter) c.-13+3045G>T (n.-13+3045G>T) c.-13+562G>T (n.-13+562G>T) | gnomAD v4 |
1 | g.26696663_26696665del | CA2644294082 | ARID1A | c.260_262del (p.Gly87del) c.-13+3046_-13+3048del (n.-13+3046_-13+3048del) c.-13+563_-13+565del (n.-13+563_-13+565del) | gnomAD v4 |
1 | g.26696663G>A | CA339264742 | ARID1A | c.260G>A (p.Gly87Glu) c.-13+3046G>A (n.-13+3046G>A) c.-13+563G>A (n.-13+563G>A) | dbSNP gnomAD v4 |
1 | g.26696663G>C | CA339264743 | ARID1A | c.260G>C (p.Gly87Ala) c.-13+3046G>C (n.-13+3046G>C) c.-13+563G>C (n.-13+563G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.26696663G= | CA1160180709 | ARID1A | c.260G= (p.Gly87=) c.-13+3046G= (n.-13+3046G=) c.-13+563G= (n.-13+563G=) | |
1 | g.26696663G>T | CA339264744 | ARID1A | c.260G>T (p.Gly87Val) c.-13+3046G>T (n.-13+3046G>T) c.-13+563G>T (n.-13+563G>T) | gnomAD v4 |
1 | g.26696664_26696672del | CA2644294084 | ARID1A | c.261_269del (p.Ala88_Ser90del) c.-13+3047_-13+3055del (n.-13+3047_-13+3055del) c.-13+564_-13+572del (n.-13+564_-13+572del) | gnomAD v4 |
1 | g.26696663_26696664insC | CA2742917362 | ARID1A | c.260_261insC (p.Ala88SerfsTer23) c.-13+3046_-13+3047insC (n.-13+3046_-13+3047insC) c.-13+563_-13+564insC (n.-13+563_-13+564insC) | |
1 | g.26696663_26696664insCCTGGAGCCCT | CA2594814652 | ARID1A | c.260_261insCCTGGAGCCCT (p.Ala88LeufsTer4) c.-13+3046_-13+3047insCCTGGAGCCCT (n.-13+3046_-13+3047insCCTGGAGCCCT) c.-13+563_-13+564insCCTGGAGCCCT (n.-13+563_-13+564insCCTGGAGCCCT) | gnomAD v3 gnomAD v4 |
1 | g.26696663_26696664insGGGTGGCGGCGGCGGCGC | CA2644294085 | ARID1A | c.260_261insGGGTGGCGGCGGCGGCGC (p.Gly87_Ala88insGlyGlyGlyGlyGlyAla) c.-13+3046_-13+3047insGGGTGGCGGCGGCGGCGC (n.-13+3046_-13+3047insGGGTGGCGGCGGCGGCGC) c.-13+563_-13+564insGGGTGGCGGCGGCGGCGC (n.-13+563_-13+564insGGGTGGCGGCGGCGGCGC) | gnomAD v4 |
1 | g.26696664del | CA2644294086 | ARID1A | c.261del (p.Ala88ProfsTer13) c.-13+3047del (n.-13+3047del) c.-13+564del (n.-13+564del) | gnomAD v4 |