En aquest annex es mostra el codi de les aplicacions dissenyades en format de text.

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Annexos Pàg.1

Índex d’annexos

1 Annex I: Codi ... 2

1.1 Codi fragmentador de seqüències ... 2

1.2 Macro per a l’obtenció de regions úniques i repetides ... 5

2 Annex II: Arxius relacionat amb Assay Design ... 19

2.1 Arxiu d’entrada a Assay Design ... 19

2.2 Arxiu de sortida d’Assay Design ... 36

3. Annex III: Beds ... 39

3.1 Bed original de BRCA1 ... 39

3.2 Bed de regions úniques ... 50

3.3 Bed de regions sense solapaments ... 56

3.4 Bed de regions repetides ... 62

4. Annex IV: Resultats d’AmpCoverage.txt ... 68

4.1 Resultats d’AmpCoverage amb el bed original ... 68

4.2 Resultats d’AmpCoverage amb el bed de regions úniques i regions repetides .. 70

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Pàg. 2 Annexos

1 Annex I: Codi

En aquest annex es mostra el codi de les aplicacions dissenyades en format de text.

1.1 Codi fragmentador de seqüències

Imports System.IO Imports System.Text

Public Class Form1

Private Sub Button1_Click(sender As Object, e As EventArgs) Handles Button1.Click TextBox2.Clear()

TextBox4.Clear()

Dim errString As String = TextBox1.Text

Dim correctString As String = errString.Replace(vbCrLf, "")

TextBox1.Text = correctString

Dim length As Integer = TextBox1.Text.Length Dim i As Integer

Dim LongOl As Integer = TextBox6.Text + 15 Dim Ins As Integer = Fix(TextBox5.Text / 2) Dim svar As String

Dim svari As String

i = 1

While Not i > length

svar = Mid(TextBox1.Text, i, LongOl)

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Annexos Pàg.3

TextBox2.Text = TextBox2.Text & svar & vbCrLf

i = i + LongOl

svar = Mid(TextBox1.Text, i, Ins)

TextBox2.Text = TextBox2.Text & svar & vbCrLf i = i + Ins

svari = Mid(TextBox1.Text, i, 1)

TextBox2.Text = TextBox2.Text & "[" & svari & "/-]" & vbCrLf i = i + 1

svar = Mid(TextBox1.Text, i, Ins)

TextBox2.Text = TextBox2.Text & svar & vbCrLf i = i + Ins

svar = Mid(TextBox1.Text, i, LongOl)

TextBox2.Text = TextBox2.Text & svar & vbCrLf & vbCrLf i = i + LongOl

i = i - LongOl - 2 * Ins - 1

End While

Dim l1 As String Dim l2 As String Dim l3 As String Dim l4 As String Dim l5 As String Dim j As Integer

Dim count As Integer = TextBox2.Lines.Length

j = 0

Do While j < (count - 4)

l1 = TextBox2.Lines(j).ToString

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Pàg. 4 Annexos

l2 = TextBox2.Lines(j + 1).ToString

l3 = TextBox2.Lines(j + 2).ToString l4 = TextBox2.Lines(j + 3).ToString l5 = TextBox2.Lines(j + 4).ToString

l1 = UCase(l1) l2 = LCase(l2) l3 = LCase(l3) l4 = LCase(l4) l5 = UCase(l5)

TextBox4.Text = TextBox4.Text & l1 & l2 & l3 & l4 & l5 & vbCrLf & vbCrLf & vbCrLf

j = j + 6 Loop End Sub

Private Sub TextBox1_TextChanged(sender As Object, e As EventArgs) Handles TextBox1.TextChanged

End Sub

Private Sub Button2_Click(sender As Object, e As EventArgs) Handles Button2.Click TextBox1.Clear()

TextBox2.Clear() TextBox4.Clear() End Sub

End Class

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Annexos Pàg.5

1.2 Macro per a l’obtenció de regions úniques i repetides

Attribute VB_Name = "Módulo1"

Sub RUyRR()

Attribute RUyRR.VB_ProcData.VB_Invoke_Func = " \n14"

'

' RUyRR Macro '

Dim NumRows As Integer Dim Range1 As String Dim Range2 As String Dim Range3 As String

NumRows = Application.Count(Range("B:B")) Let Range1 = "F1:I" & NumRows

Let Range2 = "K1:N" & NumRows Let Range3 = "P1:S" & NumRows

' assegurar que la coordenada d inici vagi en primer lloc

Range("F1").Select

ActiveCell.FormulaR1C1 = "=RC[-5]"

Range("G1").Select

ActiveCell.FormulaR1C1 = "=IF(RC[-5]<RC[-4],RC[-5],RC[-4])"

Range("H1").Select

ActiveCell.FormulaR1C1 = "=IF(RC[-6]<RC[-5],RC[-5],RC[-6])"

Range("I1").Select

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Pàg. 6 Annexos

Range("I2").Select

Range("F1:I1").Select Selection.Copy

Range(Range1).Select ActiveSheet.Paste

Application.CutCopyMode = False

' assegurar que Fwd es l oligonucleotid de coordenada menor

Range("K1").Select

Range("L1").Select

ActiveCell.FormulaR1C1 = "=IF(RC[-5]<R[1]C[-5],RC[-5],R[1]C[-5])"

Range("M1").Select

ActiveCell.FormulaR1C1 = "=IF(RC[-6]<R[1]C[-6],RC[-5],R[1]C[-5])"

Range("N1").Select

Range("L2").Select

ActiveCell.FormulaR1C1 = "=IF(R[-1]C[-5]<RC[-5],RC[-5],R[-1]C[-5])"

Range("M2").Select

ActiveCell.FormulaR1C1 = "=IF(R[-1]C[-6]<RC[-6],RC[-5],R[-1]C[-5])"

Range("N2").Select

Range("K1:N2").Select Selection.Copy

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Annexos Pàg.7

' coordenades inserts

Range("P1").Select

Range("Q1").Select

Range("R1").Select

ActiveCell.FormulaR1C1 = "=R[1]C[-6]"

Range("S1").Select

Range("P1:S2").Select Selection.Copy

' es copien les columnes i s enganxen de nou nomes amb valors

Columns("P:S").Select Selection.Copy Range("U1").Select

Selection.PasteSpecial Paste:=xlPasteValues, Operation:=xlNone, SkipBlanks _ :=False, Transpose:=False

' s eliminen les columnes anteriors i es treu _Fwd

Columns("O:S").Select

Selection.Delete Shift:=xlToLeft

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Pàg. 8 Annexos

Columns("S:S").Select

Selection.Replace What:="_Fwd", Replacement:="", LookAt:=xlPart, _ SearchOrder:=xlByRows, MatchCase:=False, SearchFormat:=False, _ ReplaceFormat:=False

' ordre ascendent segons la coordenada inicial i copiar nomes valor a les seguents columnes

Columns("P:S").Select

ActiveWorkbook.Worksheets("Hoja1").Sort.SortFields.Clear

ActiveWorkbook.Worksheets("Hoja1").Sort.SortFields.Add Key:=Range("Q1:Q1911") _ , SortOn:=xlSortOnValues, Order:=xlAscending, DataOption:=xlSortNormal

With ActiveWorkbook.Worksheets("Hoja1").Sort .SetRange Range("P1:S1911")

.Header = xlGuess .MatchCase = False

.Orientation = xlTopToBottom .SortMethod = xlPinYin .Apply

End With Selection.Copy Range("U1").Select

' copiar els inserts a fulls 2 i 3 i posar noms a les columnes del primer full

Columns("U:X").Select Selection.Copy

Sheets("Hoja2").Select Range("A1").Select

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Annexos Pàg.9

ActiveSheet.Paste

Sheets("Hoja3").Select Range("A1").Select ActiveSheet.Paste Sheets("Hoja1").Select Rows("1:1").Select Range("D1").Activate

Selection.insert Shift:=xlDown, CopyOrigin:=xlFormatFromLeftOrAbove Range("A1:D1").Select

With Selection

.HorizontalAlignment = xlCenter .VerticalAlignment = xlBottom .WrapText = False

.Orientation = 0 .AddIndent = False .IndentLevel = 0 .ShrinkToFit = False .ReadingOrder = xlContext .MergeCells = False End With

Selection.Merge

ActiveCell.FormulaR1C1 = "Bed original"

Range("F1:I1").Select With Selection

.Orientation = 0 .AddIndent = False

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Pàg. 10 Annexos

.IndentLevel = 0

.ShrinkToFit = False .ReadingOrder = xlContext .MergeCells = False End With

Selection.Merge

ActiveCell.FormulaR1C1 = "Comprovació coordenada inicial/final"

Range("K1:N1").Select With Selection

Selection.Merge

ActiveCell.FormulaR1C1 = "Comprovació Fwd/Rev"

Range("P1:S1").Select With Selection

.Orientation = 0 .AddIndent = False .IndentLevel = 0 .ShrinkToFit = False

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Annexos Pàg.11

.ReadingOrder = xlContext

.MergeCells = False End With

Selection.Merge

ActiveCell.FormulaR1C1 = "Inserts"

Range("U1:X1").Select With Selection

Selection.Merge

ActiveCell.FormulaR1C1 = "Inserts només valors"

'inici del proces de regions uniques_comprovacio un dins l altre

Dim i As Long

Dim Range4 As String Dim Range5 As String Dim Range6 As String

Sheets("Hoja2").Select

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Pàg. 12 Annexos

i = 1

NumRows = Application.Count(Range("B:B")) Let Range4 = "F2:G" & NumRows

Let Range5 = "I2:K" & NumRows Let Range6 = "S1:S" & NumRows

NumRows = Application.Count(Range("B:B"))

Range("F1").Select

Range("G1").Select

ActiveCell.FormulaR1C1 = _

"=IF(AND(R[1]C[-5]<RC[-4],R[1]C[-4]<RC[-4]),R[1]C[-5],RC[-4])"

Range("F2").Select

"=IF(R[1]C[-4]=0,RC[-4],IF(AND(R[1]C[-4]<RC[-3],R[1]C[-3]<RC[-3]),RC[-4],IF(AND(RC[- 4]<R[-1]C[-3],RC[-3]<R[-1]C[-3]),RC[-3],RC[-4])))"

Range("G2").Select

"=IF(R[1]C[-4]=0,RC[-4],IF(AND(R[1]C[-5]<RC[-4],R[1]C[-4]<RC[-4]),R[1]C[-5],IF(AND(RC[- 5]<R[-1]C[-4],RC[-4]<R[-1]C[-4]),R[-1]C[-4],RC[-4])))"

Range("F2:G2").Select Selection.Copy

' calcul regions uniques i enganxar nomes valors a columnes noves Range("I1").Select

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Annexos Pàg.13

Range("J1").Select

Range("K1").Select

"=IF(R[1]C[-4]=0,RC[-4],IF(RC[-4]>R[1]C[-5],R[1]C[-5],RC[-4]))"

Range("J2").Select

ActiveCell.FormulaR1C1 = "=IF(RC[-4]<R[-1]C[-3],R[-1]C[-3],RC[-4])"

Range("I2").Select

Range("K2").Select

"=IF(R[1]C[-4]=0,RC[-4],IF(RC[-4]>R[1]C[-5],R[1]C[-5],RC[-4]))"

Range("I2:K2").Select Selection.Copy

Application.CutCopyMode = False Columns("I:L").Select

Selection.Copy Range("N1").Select

Application.CutCopyMode = False Columns("D:D").Select

Selection.Copy Range("Q1").Select ActiveSheet.Paste

' cracio de columna s per descartar segments sense sentit

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Pàg. 14 Annexos

Range("S1").Select

ActiveCell.FormulaR1C1 = "=RC[-3]-RC[-4]"

Selection.Copy

Range(Range6).Select ActiveSheet.Paste Do While i <= NumRows Let Range4 = "S" & i Range(Range4).Select If ActiveCell.Value <= 0 Then Let Range5 = i & ":" & i Rows(Range5).Select Selection.Delete Shift:=xlUp NumRows = NumRows - 1

Else i = i + 1 End If Loop

' es posa nom a les columnes i s eliminen els passos intermitjos

Columns("A:M").Select Range("M1").Activate

Selection.Delete Shift:=xlToLeft Rows("1:1").Select

Selection.insert Shift:=xlDown, CopyOrigin:=xlFormatFromLeftOrAbove Range("A1:D1").Select

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Annexos Pàg.15

With Selection

Selection.Merge Range("A1:D1").Select

ActiveCell.FormulaR1C1 = "BED DEFINITIU DE REGIONS ÚNIQUES"

Range("F1").Select

ActiveCell.FormulaR1C1 = "Longitud segment"

' inici proces regions sense solapament

i = 1

Let Range4 = "F3:I" & NumRows

Sheets("Hoja3").Select Range("F1").Select

Range("G1").Select

Range("H1").Select

Range("I1").Select

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Pàg. 16 Annexos

Range("F2").Select

Range("G2").Select

"=IF(R[-1]C[-4]<RC[-5],RC[-5],IF(R[-1]C[-4]<RC[-4],R[-1]C[-4],0))"

Range("H2").Select

ActiveCell.FormulaR1C1 = "=IF(R[-1]C[-5]<RC[-5],RC[-5],0)"

Range("I2").Select

Range("F3").Select

Range("G3").Select

"=IF(R[-1]C=0,IF(R[-2]C[-4]<RC[-5],RC[-5],IF(R[-2]C[-4]<RC[-4],R[-2]C[-4],0)),IF(R[-1]C[- 4]<RC[-5],RC[-5],IF(R[-1]C[-4]<RC[-4],R[-1]C[-4],0)))"

Range("H3").Select

"=IF(R[-1]C=0,IF(R[-2]C[-5]<RC[-5],RC[-5],0),IF(R[-1]C[-5]<RC[-5],RC[-5],0))"

Range("I3").Select

Range("F3:I3").Select Selection.Copy

' es copien els valors a noves columnes

Columns("F:I").Select

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Annexos Pàg.17

Selection.Copy

Range("K1").Select

' s eliminen les files sense sentit

Do While i <= NumRows Let Range5 = "M" & i Range(Range5).Select If ActiveCell.Value = 0 Then Let Range6 = i & ":" & i Rows(Range6).Select Selection.Delete Shift:=xlUp NumRows = NumRows - 1

Else i = i + 1 End If Loop

'es posa noms a les columnes i s'eliminen passos intermitjos

Columns("A:J").Select Range("J1").Activate

Selection.Delete Shift:=xlToLeft Rows("1:1").Select

Selection.insert Shift:=xlDown, CopyOrigin:=xlFormatFromLeftOrAbove

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Pàg. 18 Annexos

Range("A1:D1").Select

With Selection

Selection.Merge

ActiveCell.FormulaR1C1 = "BED DEFINITIU DE REGIONS NO SOLAPADES"

' es posa nom als fulls

Sheets("Hoja3").Name = "Regions sense solapament"

Sheets("Hoja2").Name = "Regions úniques"

Sheets("Hoja1").Name = "Bed inicial i inserts"

End Sub

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Annexos Pàg.19

2 Annex II: Arxius relacionat amb Assay Design

En aquest punt es poden veure els arxius d’entrada i sortida del programa Assay Design implicats en el disseny d’oligonucleòtids per al gen BRCA1.

2.1 Arxiu d’entrada a Assay Design

En aquest arxiu de text s’especifica el nom que tindrà l’amplicó i la seqüència corresponent.

SNP_ID Sequence BRCA1 EX2_1

TATATATATATGTTTTTCTAATGTGTTAAAGTTCATtggaacagaaagaaatggatttatctgctcttc gc[g/-

]ttgaagaagtacaaaatgtcattaatgctatgcagaAAATCTTAGAGTGTCCCATCTGGTAAGTCAGCACAA BRCA1 EX2_2

TGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGttgaagaagtacaaaatgtcattaatgcta tgcag[a/-

]aaatcttagagtgtcccatctggtaagtcagcacaaGAGTGTATTAATTTGGGATTCCTATGATTATCTCCT BRCA1 EX2_3

TTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAaaatcttagagtgtcccatctggtaagtcag caca[a/-

]gagtgtattaatttgggattcctatgattatctcctATGCAAATGAACAGAATTGACCTTACATACTAGGGA BRCA1 EX3_1

AAATTATTGAGCCTCATTTATTTTCTTTTTCTCCCCccctaccctgctagtctggagttgatcaagga acc[t/-

]gtctccacaaagtgtgaccacatattttgcaagtaaGTTTGAATGTGTTATGTGGCTCCATTATTAGCTTTT BRCA1 EX3_2

CCCTACCCTGCTAGTCTGGAGTTGATCAAGGAACCTgtctccacaaagtgtgaccacatattttgc aagta[a/-

]gtttgaatgtgttatgtggctccattattagcttttGTTTTTGTCCTTCATAACCCAGGAAACACCTAACTT BRCA1 EX4_1

CTACAAAAGGAAGTAAATTAAATTGTTCTTTCTTTCtttataatttatagattttgcatgctgaaacttct[

c/-

]aaccagaagaaagggccttcacagtgtcctttatgtAAGAATGATATAACCAAAAGGTATATAATTTGGTAA BRCA1 EX4_2

TTTATAATTTATAGATTTTGCATGCTGAAACTTCTCaaccagaagaaagggccttcacagtgtcctt tatg[t/-

]aagaatgatataaccaaaaggtatataatttggtaaTGATGCTAGGTTGGAAGCAACCACAGTAGGAAAAA G

BRCA1 EX4_3

AACCAGAAGAAAGGGCCTTCACAGTGTCCTTTATGTaagaatgatataaccaaaaggtatataat ttggta[a/-

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Pàg. 20 Annexos

]tgatgctaggttggaagcaaccacagtaggaaaaagTAGAAATTATTTAATAACATAGCGTTCCTATAAAAC BRCA1 EX5_1

AAGGTTGATAATCACTTGCTGAGTGTGTTTCTCAAAcaatttaatttcaggagcctacaagaaagt acgag[a/-

]tttagtcaacttgttgaagagctattgaaaatcattTGTGCTTTTCAGCTTGACACAGGTTTGGAGTGTAAG BRCA1 EX5_2

CAATTTAATTTCAGGAGCCTACAAGAAAGTACGAGAtttagtcaacttgttgaagagctattgaaaat cat[t/-

]tgtgcttttcagcttgacacaggtttggagtgtaagTGTTGAATATCCCAAGAATGACACTCAAGTGCTGTC BRCA1 EX5_3

TTTAGTCAACTTGTTGAAGAGCTATTGAAAATCATTtgtgcttttcagcttgacacaggtttggagtgt aa[g/-

]tgttgaatatcccaagaatgacactcaagtgctgtcCATGAAAACTCAGGAAGTTTGCACAATTACTTTCTA BRCA1 EX6_1

ATACATTTTTCTCTAACTGCAAACATAATGTTTTCCcttgtattttacagatgcaaacagctataatttt g[c/-

]aaaaaaggaaaataactctcctgaacatctaaaagaTGAAGTTTCTATCATCCAAAGTATGGGCTACAGAA A

BRCA1 EX6_2

CTTGTATTTTACAGATGCAAACAGCTATAATTTTGCaaaaaaggaaaataactctcctgaacatct aaaag[a/-

]tgaagtttctatcatccaaagtatgggctacagaaaCCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAA BRCA1 EX6_3

AAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGAtgaagtttctatcatccaaagtatgggctac agaa[a/-

]ccgtgccaaaagacttctacagagtgaacccgaaaaTCCTTCCTTGGTAAAACCATTTGTTTTCTTCTTCTT BRCA1 EX6_4 TGAAGTTTCTATCATCCAAAGTATGGGCTACAGAAAccgtgccaaaagacttc[t/- ]acagagtgaacccgaaaatccttccttggtaaaaccatttgttttcttcttcttCTTCTTCTTCTTTTCTTTTTTTTTTCTTT TTTTTTT

BRCA1 EX6_5

CCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAAtccttccttggtaaaaccatttgttttcttcttc t[t/-]cttcttcttcttttcttttttttttcttttttttttTTGAGATGGAGTCTTGCTCTGTGGCCCAGGCTAGAA

BRCA1 EX7_1

GCACAGAACTGGCCAACAATTGCTTGACTGTTCTTTaccatactgtttagcaggaaaccagtctca gtgtc[c/-

]aactctctaaccttggaactgtgagaactctgaggaCAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCT BRCA1 EX7_2

ACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCaactctctaaccttggaactgtgagaactc tgagg[a/-

]caaagcagcggatacaacctcaaaagacgtctgtctACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAG T

BRCA1 EX7_3

AACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGAcaaagcagcggatacaacctcaaaaga

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Annexos Pàg.21

cgtctgtc[t/-

]acattgaattgggtaagggtctcaggttttttaagtATTTAATAATAATTGCTGGATTCCTTATCTTATAGT BRCA1 EX8_1

TTAATTAAGAAAACTTTTATTGATTTATTTTTTGGGgggaaattttttaggatctgattcttctgaagata [c/-

]cgttaataaggcaacttattgcaggtgagtcaaagaGAACCTTTGTCTATGAAGCTGGTATTTTCCTATTTA BRCA1 EX8_2

GGGAAATTTTTTAGGATCTGATTCTTCTGAAGATACcgttaataaggcaacttattgcaggtgagtc aaag[a/-

]gaacctttgtctatgaagctggtattttcctatttaGTTAATATTAAGGATTGATGTTTCTCTCTTTTTAAA BRCA1 EX9_1

GCATACATGTAACTAGTGTTTCTTATTAGGACTCTGtcttttccctatagtgtgggagatcaagaatt gtt[a/-

]caaatcacccctcaaggaaccagggatgaaatcagtTTGGATTCTGCAAAAAAGGGTAATGGCAAAGTTTG C

BRCA1 EX9_2

TCTTTTCCCTATAGTGTGGGAGATCAAGAATTGTTAcaaatcacccctcaaggaaccagggatg aaatcag[t/-

]ttggattctgcaaaaaagggtaatggcaaagtttgcCAACTTAACAGGCACTGAAAAGAGAGTGGGTAGATA BRCA1 EX9_3

CAAATCACCCCTCAAGGAACCAGGGATGAAATCAGTttggattctgcaaaaaagggtaatggca aagtttg[c/-

]caacttaacaggcactgaaaagagagtgggtagataCAGTACTGTAATTAGATTATTCTGAAGACCATTTG G

BRCA1 EX10_1

TTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTttgtatattttcagctgcttgtgaattttctgaga[

c/-

]ggatgtaacaaatactgaacatcatcaacccagtaaTAATGATTTGAACACCACTGAGAAGCGTGCAGCTG A

BRCA1 EX10_2

TTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACggatgtaacaaatactgaacatcatcaacc cagta[a/-

]taatgatttgaacaccactgagaagcgtgcagctgaGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTT C

BRCA1 EX10_3

GGATGTAACAAATACTGAACATCATCAACCCAGTAAtaatgatttgaacaccactgagaagcgtg cagctg[a/-

]gaggcatccagaaaagtatcagggtagttctgtttcAAACTTGCATGTGGAGCCATGTGGCACAAATACTCA BRCA1 EX10_4

TAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAgaggcatccagaaaagtatcagggtagt tctgttt[c/-

]aaacttgcatgtggagccatgtggcacaaatactcaTGCCAGCTCATTACAGCATGAGAACAGCAGTTTATT BRCA1 EX10_5

GAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCaaacttgcatgtggagccatgtggcaca aatactc[a/-

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Pàg. 22 Annexos

]tgccagctcattacagcatgagaacagcagtttattACTCACTAAAGACAGAATGAATGTAGAAAAGGCTGA BRCA1 EX10_6

AAACTTGCATGTGGAGCCATGTGGCACAAATACTCAtgccagctcattacagcatgagaacagc agtttat[t/-

]actcactaaagacagaatgaatgtagaaaaggctgaATTCTGTAATAAAAGCAAACAGCCTGGCTTAGCAA G

BRCA1 EX10_7

TGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTactcactaaagacagaatgaatgtagaa aaggctg[a/-

]attctgtaataaaagcaaacagcctggcttagcaagGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAA C

BRCA1 EX10_8

ACTCACTAAAGACAGAATGAATGTAGAAAAGGCTGAattctgtaataaaagcaaacagcctggctt agcaa[g/-

]gagccaacataacagatgggctggaagtaaggaaacATGTAATGATAGGCGGACTCCCAGCACAGAAAAA AA

BRCA1 EX10_9

ATTCTGTAATAAAAGCAAACAGCCTGGCTTAGCAAGgagccaacataacagatgggctggaagt aaggaaa[c/-

]atgtaatgataggcggactcccagcacagaaaaaaaGGTAGATCTGAATGCTGATCCCCTGTGTGAGAGA AA

BRCA1 EX10_10

GAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACatgtaatgataggcggactcccagcac agaaaaaa[a/-

]ggtagatctgaatgctgatcccctgtgtgagagaaaAGAATGGAATAAGCAGAAACTGCCATGCTCAGAGAA BRCA1 EX10_11

ATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAAggtagatctgaatgctgatcccctgtgtga gagaa[a/-

]agaatggaataagcagaaactgccatgctcagagaaTCCTAGAGATACTGAAGATGTTCCTTGGATAACAC T

BRCA1 EX10_12

GGTAGATCTGAATGCTGATCCCCTGTGTGAGAGAAAagaatggaataagcagaaactgccatg ctcagaga[a/-

]tcctagagatactgaagatgttccttggataacactAAATAGCAGCATTCAGAAAGTTAATGAGTGGTTTTC BRCA1 EX10_13

AGAATGGAATAAGCAGAAACTGCCATGCTCAGAGAAtcctagagatactgaagatgttccttggat aacac[t/-

]aaatagcagcattcagaaagttaatgagtggttttcCAGAAGTGATGAACTGTTAGGTTCTGATGACTCACA BRCA1 EX10_14

TCCTAGAGATACTGAAGATGTTCCTTGGATAACACTaaatagcagcattcagaaagttaatgagt ggtttt[c/-

]cagaagtgatgaactgttaggttctgatgactcacaTGATGGGGAGTCTGAATCAAATGCCAAAGTAGCTGA BRCA1 EX10_15

AAATAGCAGCATTCAGAAAGTTAATGAGTGGTTTTCcagaagtgatgaactgttaggttctgatga

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Annexos Pàg.23

ctcac[a/-

]tgatggggagtctgaatcaaatgccaaagtagctgaTGTATTGGACGTTCTAAATGAGGTAGATGAATATTC BRCA1 EX10_16

CAGAAGTGATGAACTGTTAGGTTCTGATGACTCACAtgatggggagtctgaatcaaatgccaaa gtagctg[a/-

]tgtattggacgttctaaatgaggtagatgaatattcTGGTTCTTCAGAGAAAATAGACTTACTGGCCAGTGA BRCA1 EX10_17

TGATGGGGAGTCTGAATCAAATGCCAAAGTAGCTGAtgtattggacgttctaaatgaggtagatga atatt[c/-

]tggttcttcagagaaaatagacttactggccagtgaTCCTCATGAGGCTTTAATATGTAAAAGTGAAAGAGT BRCA1 EX10_18

TGTATTGGACGTTCTAAATGAGGTAGATGAATATTCtggttcttcagagaaaatagacttactggcc agtg[a/-

]tcctcatgaggctttaatatgtaaaagtgaaagagtTCACTCCAAATCAGTAGAGAGTAATATTGAAGACAA BRCA1 EX10_19

TGGTTCTTCAGAGAAAATAGACTTACTGGCCAGTGAtcctcatgaggctttaatatgtaaaagtga aagag[t/-

]tcactccaaatcagtagagagtaatattgaagacaaAATATTTGGGAAAACCTATCGGAAGAAGGCAAGCC T

BRCA1 EX10_20

TCCTCATGAGGCTTTAATATGTAAAAGTGAAAGAGTtcactccaaatcagtagagagtaatattga agaca[a/-

]aatatttgggaaaacctatcggaagaaggcaagcctCCCCAACTTAAGCCATGTAACTGAAAATCTAATTAT BRCA1 EX10_21

TCACTCCAAATCAGTAGAGAGTAATATTGAAGACAAaatatttgggaaaacctatcggaagaagg caagcc[t/-

]ccccaacttaagccatgtaactgaaaatctaattatAGGAGCATTTGTTACTGAGCCACAGATAATACAAGA BRCA1 EX10_22

AATATTTGGGAAAACCTATCGGAAGAAGGCAAGCCTccccaacttaagccatgtaactgaaaatc taatta[t/-

]aggagcatttgttactgagccacagataatacaagaGCGTCCCCTCACAAATAAATTAAAGCGTAAAAGGA G

BRCA1 EX10_23

CCCCAACTTAAGCCATGTAACTGAAAATCTAATTATaggagcatttgttactgagccacagataat acaag[a/-

]gcgtcccctcacaaataaattaaagcgtaaaaggagACCTACATCAGGCCTTCATCCTGAGGATTTTATCA A

BRCA1 EX10_24

AGGAGCATTTGTTACTGAGCCACAGATAATACAAGAgcgtcccctcacaaataaattaaagcgta aaagga[g/-

]acctacatcaggccttcatcctgaggattttatcaaGAAAGCAGATTTGGCAGTTCAAAAGACTCCTGAAAT BRCA1 EX10_25

GCGTCCCCTCACAAATAAATTAAAGCGTAAAAGGAGacctacatcaggccttcatcctgaggatttt atca[a/-

(24)

Pàg. 24 Annexos

]gaaagcagatttggcagttcaaaagactcctgaaatGATAAATCAGGGAACTAACCAAACGGAGCAGAATG G

BRCA1 EX10_26

ACCTACATCAGGCCTTCATCCTGAGGATTTTATCAAgaaagcagatttggcagttcaaaagactc ctgaaa[t/-

]gataaatcagggaactaaccaaacggagcagaatggTCAAGTGATGAATATTACTAATAGTGGTCATGAG AA

BRCA1 EX10_27

GAAAGCAGATTTGGCAGTTCAAAAGACTCCTGAAATgataaatcagggaactaaccaaacgga gcagaatg[g/-

]tcaagtgatgaatattactaatagtggtcatgagaaTAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAA BRCA1 EX10_28

GATAAATCAGGGAACTAACCAAACGGAGCAGAATGGtcaagtgatgaatattactaatagtggtca tgaga[a/-

]taaaacaaaaggtgattctattcagaatgagaaaaaTCCTAACCCAATAGAATCACTCGAAAAAGAATCTGC BRCA1 EX10_29

TCAAGTGATGAATATTACTAATAGTGGTCATGAGAAtaaaacaaaaggtgattctattcagaatga gaaaa[a/-

]tcctaacccaatagaatcactcgaaaaagaatctgcTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTAT BRCA1 EX10_30

TAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAAtcctaacccaatagaatcactcgaaaaag aatctg[c/-

]tttcaaaacgaaagctgaacctataagcagcagtatAAGCAATATGGAACTCGAATTAAATATCCACAATTC BRCA1 EX10_31

TCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCtttcaaaacgaaagctgaacctataagca gcagta[t/-

]aagcaatatggaactcgaattaaatatccacaattcAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGT C

BRCA1 EX10_32

TTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATaagcaatatggaactcgaattaaatatcc acaatt[c/-

]aaaagcacctaaaaagaataggctgaggaggaagtcTTCTACCAGGCATATTCATGCGCTTGAACTAGTA GT

BRCA1 EX10_33

AAGCAATATGGAACTCGAATTAAATATCCACAATTCaaaagcacctaaaaagaataggctgagg aggaagt[c/-

]ttctaccaggcatattcatgcgcttgaactagtagtCAGTAGAAATCTAAGCCCACCTAATTGTACTGAATT BRCA1 EX10_34

AAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCttctaccaggcatattcatgcgcttgaact agtag[t/-

]cagtagaaatctaagcccacctaattgtactgaattGCAAATTGATAGTTGTTCTAGCAGTGAAGAGATAAA BRCA1 EX10_35

TTCTACCAGGCATATTCATGCGCTTGAACTAGTAGTcagtagaaatctaagcccacctaattgtac tgaat[t/-

]gcaaattgatagttgttctagcagtgaagagataaaGAAAAAAAAGTACAACCAAATGCCAGTCAGGCACAG

(25)

Annexos Pàg.25

BRCA1 EX10_36

CAGTAGAAATCTAAGCCCACCTAATTGTACTGAATTgcaaattgatagttgttctagcagtgaaga gataa[a/-

]gaaaaaaaagtacaaccaaatgccagtcaggcacagCAGAAACCTACAACTCATGGAAGGTAAAGAACCT GC

BRCA1 EX10_37

GCAAATTGATAGTTGTTCTAGCAGTGAAGAGATAAAgaaaaaaaagtacaaccaaatgccagt caggcaca[g/-

]cagaaacctacaactcatggaaggtaaagaacctgcAACTGGAGCCAAGAAGAGTAACAAGCCAAATGAA CA

BRCA1 EX10_38

GAAAAAAAAGTACAACCAAATGCCAGTCAGGCACAGcagaaacctacaactcatggaaggtaa agaacctg[c/-

]aactggagccaagaagagtaacaagccaaatgaacaGACAAGTAAAAGACATGACAGCGATACTTTCCCA GA

BRCA1 EX10_39

CAGAAACCTACAACTCATGGAAGGTAAAGAACCTGCaactggagccaagaagagtaacaagc caaatgaac[a/-

]gacaagtaaaagacatgacagcgatactttcccagaGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTA A

BRCA1 EX10_40

AACTGGAGCCAAGAAGAGTAACAAGCCAAATGAACAgacaagtaaaagacatgacagcgata ctttcccag[a/-

]gctgaagttaacaaatgcacctggttcttttactaaGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAA BRCA1 EX10_41

GACAAGTAAAAGACATGACAGCGATACTTTCCCAGAgctgaagttaacaaatgcacctggttctttt acta[a/-

]gtgttcaaataccagtgaacttaaagaatttgtcaaTCCTAGCCTTCCAAGAGAAGAAAAAGAAGAGAAACT BRCA1 EX10_42

GCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAgtgttcaaataccagtgaacttaaagaattt gtca[a/-

]tcctagccttccaagagaagaaaaagaagagaaactAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACC C

BRCA1 EX10_43

GTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAAtcctagccttccaagagaagaaaaagaa gagaaac[t/-

]agaaacagttaaagtgtctaataatgctgaagacccCAAAGATCTCATGTTAAGTGGAGAAAGGGTTTTGCA BRCA1 EX10_44

TCCTAGCCTTCCAAGAGAAGAAAAAGAAGAGAAACTagaaacagttaaagtgtctaataatgctg aagacc[c/-

]caaagatctcatgttaagtggagaaagggttttgcaAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCATT BRCA1 EX10_45

AGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCcaaagatctcatgttaagtggagaaaggg ttttgc[a/-

]aactgaaagatctgtagagagtagcagtatttcattGGTACCTGGTACTGATTATGGCACTCAGGAAAGTAT

(26)

Pàg. 26 Annexos

BRCA1 EX10_46

CAAAGATCTCATGTTAAGTGGAGAAAGGGTTTTGCAaactgaaagatctgtagagagtagcagt atttcat[t/-

]ggtacctggtactgattatggcactcaggaaagtatCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAA BRCA1 EX10_47

AACTGAAAGATCTGTAGAGAGTAGCAGTATTTCATTggtacctggtactgattatggcactcagga aagta[t/-

]ctcgttactggaagttagcactctagggaaggcaaaAACAGAACCAAATAAATGTGTGAGTCAGTGTGCAG C

BRCA1 EX10_48

GGTACCTGGTACTGATTATGGCACTCAGGAAAGTATctcgttactggaagttagcactctaggga aggcaa[a/-

]aacagaaccaaataaatgtgtgagtcagtgtgcagcATTTGAAAACCCCAAGGGACTAATTCATGGTTGTT C

BRCA1 EX10_49

CTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAaacagaaccaaataaatgtgtgagtca gtgtgcag[c/-

]atttgaaaaccccaagggactaattcatggttgttcCAAAGATAATAGAAATGACACAGAAGGCTTTAAGTA BRCA1 EX10_50

AACAGAACCAAATAAATGTGTGAGTCAGTGTGCAGCatttgaaaaccccaagggactaattcatg gttgtt[c/-

]caaagataatagaaatgacacagaaggctttaagtaTCCATTGGGACATGAAGTTAACCACAGTCGGGAAA C

BRCA1 EX10_51

ATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCcaaagataatagaaatgacacagaagg ctttaagt[a/-

]tccattgggacatgaagttaaccacagtcgggaaacAAGCATAGAAATGGAAGAAAGTGAACTTGATGCTC A

BRCA1 EX10_52

CAAAGATAATAGAAATGACACAGAAGGCTTTAAGTAtccattgggacatgaagttaaccacagtcg ggaaa[c/-

]aagcatagaaatggaagaaagtgaacttgatgctcaGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCC A

BRCA1 EX10_53

TCCATTGGGACATGAAGTTAACCACAGTCGGGAAACaagcatagaaatggaagaaagtgaact tgatgctc[a/-

]gtatttgcagaatacattcaaggtttcaaagcgccaGTCATTTGCTCCGTTTTCAAATCCAGGAAATGCAGA BRCA1 EX10_54

AAGCATAGAAATGGAAGAAAGTGAACTTGATGCTCAgtatttgcagaatacattcaaggtttcaaa gcgcc[a/-

]gtcatttgctccgttttcaaatccaggaaatgcagaAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTC BRCA1 EX10_55

GTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAgtcatttgctccgttttcaaatccaggaaatg cag[a/-

]agaggaatgtgcaacattctctgcccactctgggtcCTTAAAGAAACAAAGTCCAAAAGTCACTTTTGAATG

(27)

Annexos Pàg.27

BRCA1 EX10_56

GTCATTTGCTCCGTTTTCAAATCCAGGAAATGCAGAagaggaatgtgcaacattctctgcccactc tgggt[c/-

]cttaaagaaacaaagtccaaaagtcacttttgaatgTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTC BRCA1 EX10_57

AGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCcttaaagaaacaaagtccaaaagtcact tttgaat[g/-

]tgaacaaaaggaagaaaatcaaggaaagaatgagtcTAATATCAAGCCTGTACAGACAGTTAATATCACT GC

BRCA1 EX10_58

CTTAAAGAAACAAAGTCCAAAAGTCACTTTTGAATGtgaacaaaaggaagaaaatcaaggaaa gaatgagt[c/-

]taatatcaagcctgtacagacagttaatatcactgcAGGCTTTCCTGTGGTTGGTCAGAAAGATAAGCCAGT BRCA1 EX10_59

TGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCtaatatcaagcctgtacagacagttaatat cactg[c/-

]aggctttcctgtggttggtcagaaagataagccagtTGATAATGCCAAATGTAGTATCAAAGGAGGCTCTAG BRCA1 EX10_60

TAATATCAAGCCTGTACAGACAGTTAATATCACTGCaggctttcctgtggttggtcagaaagataag ccag[t/-

]tgataatgccaaatgtagtatcaaaggaggctctagGTTTTGTCTATCATCTCAGTTCAGAGGCAACGAAAC BRCA1 EX10_61

AGGCTTTCCTGTGGTTGGTCAGAAAGATAAGCCAGTtgataatgccaaatgtagtatcaaagga ggctcta[g/-

]gttttgtctatcatctcagttcagaggcaacgaaacTGGACTCATTACTCCAAATAAACATGGACTTTTACA BRCA1 EX10_62

TGATAATGCCAAATGTAGTATCAAAGGAGGCTCTAGgttttgtctatcatctcagttcagaggcaac gaaa[c/-

]tggactcattactccaaataaacatggacttttacaAAACCCATATCGTATACCACCACTTTTTCCCATCAA BRCA1 EX10_63

GTTTTGTCTATCATCTCAGTTCAGAGGCAACGAAACtggactcattactccaaataaacatggactt ttac[a/-

]aaacccatatcgtataccaccactttttcccatcaaGTCATTTGTTAAAACTAAATGTAAGAAAAATCTGCT BRCA1 EX10_64

TGGACTCATTACTCCAAATAAACATGGACTTTTACAaaacccatatcgtataccaccactttttccca tca[a/-

]gtcatttgttaaaactaaatgtaagaaaaatctgctAGAGGAAAACTTTGAGGAACATTCAATGTCACCTGA BRCA1 EX10_65

AAACCCATATCGTATACCACCACTTTTTCCCATCAAgtcatttgttaaaactaaatgtaagaaaaat ctgc[t/-

]agaggaaaactttgaggaacattcaatgtcacctgaAAGAGAAATGGGAAATGAGAACATTCCAAGTACAG T

BRCA1 EX10_66

GTCATTTGTTAAAACTAAATGTAAGAAAAATCTGCTagaggaaaactttgaggaacattcaatgtc acctg[a/-

(28)

Pàg. 28 Annexos

]aagagaaatgggaaatgagaacattccaagtacagtGAGCACAATTAGCCGTAATAACATTAGAGAAAATG T

BRCA1 EX10_67

AGAGGAAAACTTTGAGGAACATTCAATGTCACCTGAaagagaaatgggaaatgagaacattcc aagtacag[t/-

]gagcacaattagccgtaataacattagagaaaatgtTTTTAAAGAAGCCAGCTCAAGCAATATTAATGAAGT BRCA1 EX10_68

AAGAGAAATGGGAAATGAGAACATTCCAAGTACAGTgagcacaattagccgtaataacattaga gaaaatg[t/-

]ttttaaagaagccagctcaagcaatattaatgaagtAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAA BRCA1 EX10_69

GAGCACAATTAGCCGTAATAACATTAGAGAAAATGTttttaaagaagccagctcaagcaatattaa tgaag[t/-

]aggttccagtactaatgaagtgggctccagtattaaTGAAATAGGTTCCAGTGATGAAAACATTCAAGCAGA BRCA1 EX10_70

TTTTAAAGAAGCCAGCTCAAGCAATATTAATGAAGTaggttccagtactaatgaagtgggctccag tatta[a/-

]tgaaataggttccagtgatgaaaacattcaagcagaACTAGGTAGAAACAGAGGGCCAAAATTGAATGCTA T

BRCA1 EX10_71

AGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAAtgaaataggttccagtgatgaaaacattc aagcag[a/-

]actaggtagaaacagagggccaaaattgaatgctatGCTTAGATTAGGGGTTTTGCAACCTGAGGTCTATA A

BRCA1 EX10_72

TGAAATAGGTTCCAGTGATGAAAACATTCAAGCAGAactaggtagaaacagagggccaaaattg aatgcta[t/-

]gcttagattaggggttttgcaacctgaggtctataaACAAAGTCTTCCTGGAAGTAATTGTAAGCATCCTGA BRCA1 EX10_73

ACTAGGTAGAAACAGAGGGCCAAAATTGAATGCTATgcttagattaggggttttgcaacctgaggt ctata[a/-

]acaaagtcttcctggaagtaattgtaagcatcctgaAATAAAAAAGCAAGAATATGAAGAAGTAGTTCAGAC BRCA1 EX10_74

GCTTAGATTAGGGGTTTTGCAACCTGAGGTCTATAAacaaagtcttcctggaagtaattgtaagca tcctg[a/-

]aataaaaaagcaagaatatgaagaagtagttcagacTGTTAATACAGATTTCTCTCCATATCTGATTTCAGA BRCA1 EX10_75

ACAAAGTCTTCCTGGAAGTAATTGTAAGCATCCTGAaataaaaaagcaagaatatgaagaagt agttcaga[c/-

]tgttaatacagatttctctccatatctgatttcagaTAACTTAGAACAGCCTATGGGAAGTAGTCATGCATC BRCA1 EX10_76

AATAAAAAAGCAAGAATATGAAGAAGTAGTTCAGACtgttaatacagatttctctccatatctgatttca g[a/-

]taacttagaacagcctatgggaagtagtcatgcatcTCAGGTTTGTTCTGAGACACCTGATGACCTGTTAGA

(29)

Annexos Pàg.29

BRCA1 EX10_77

TGTTAATACAGATTTCTCTCCATATCTGATTTCAGAtaacttagaacagcctatg[g/-

]gaagtagtcatgcatctcaggtttgttctgagacacctgatgacctgttagaTGATGGTGAAATAAAGGAAGATACTA GTTTTGCTGA

BRCA1 EX10_78

TAACTTAGAACAGCCTATGGGAAGTAGTCATGCATCtcaggtttgttctgagacacctgatgacctg ttag[a/-

]tgatggtgaaataaaggaagatactagttttgctgaAAATGACATTAAGGAAAGTTCTGCTGTTTTTAGCAA BRCA1 EX10_79

TCAGGTTTGTTCTGAGACACCTGATGACCTGTTAGAtgatggtgaaataaaggaagatactagttt tgctg[a/-

]aaatgacattaaggaaagttctgctgtttttagcaaAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTCCTAG BRCA1 EX10_80

TGATGGTGAAATAAAGGAAGATACTAGTTTTGCTGAaaatgacattaaggaaagttctgctgttttta gca[a/-

]aagcgtccagaaaggagagcttagcaggagtcctagCCCTTTCACCCATACACATTTGGCTCAGGGTTAC CG

BRCA1 EX10_81

AAATGACATTAAGGAAAGTTCTGCTGTTTTTAGCAAaagcgtccagaaaggagagcttagcagg agtccta[g/-

]ccctttcacccatacacatttggctcagggttaccgAAGAGGGGCCAAGAAATTAGAGTCCTCAGAAGAGAA BRCA1 EX10_82

AAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTCCTAGccctttcacccatacacatttggctcagg gttacc[g/-

]aagaggggccaagaaattagagtcctcagaagagaaCTTATCTAGTGAGGATGAAGAGCTTCCCTGCTTC CA

BRCA1 EX10_83

CCCTTTCACCCATACACATTTGGCTCAGGGTTACCGaagaggggccaagaaattagagtcctc agaagaga[a/-

]cttatctagtgaggatgaagagcttccctgcttccaACACTTGTTATTTGGTAAAGTAAACAATATACCTTC BRCA1 EX10_84

AAGAGGGGCCAAGAAATTAGAGTCCTCAGAAGAGAActtatctagtgaggatgaagagcttccct gcttcc[a/-

]acacttgttatttggtaaagtaaacaatataccttcTCAGTCTACTAGGCATAGCACCGTTGCTACCGAGTG BRCA1 EX10_85

CTTATCTAGTGAGGATGAAGAGCTTCCCTGCTTCCAacacttgttatttggtaaagtaaacaatata cctt[c/-

]tcagtctactaggcatagcaccgttgctaccgagtgTCTGTCTAAGAACACAGAGGAGAATTTATTATCATT BRCA1 EX10_86

ACACTTGTTATTTGGTAAAGTAAACAATATACCTTCtcagtctactaggcatagcaccgttgctacc gagt[g/-

]tctgtctaagaacacagaggagaatttattatcattGAAGAATAGCTTAAATGACTGCAGTAACCAGGTAAT BRCA1 EX10_87

TCAGTCTACTAGGCATAGCACCGTTGCTACCGAGTGtctgtctaagaacacagaggagaatttat tatcat[t/-

(30)

Pàg. 30 Annexos

]gaagaatagcttaaatgactgcagtaaccaggtaatATTGGCAAAGGCATCTCAGGAACATCACCTTAGTG A

BRCA1 EX10_88

TCTGTCTAAGAACACAGAGGAGAATTTATTATCATTgaagaatagcttaaatgactgcagtaacc aggtaa[t/-

]attggcaaaggcatctcaggaacatcaccttagtgaGGAAACAAAATGTTCTGCTAGCTTGTTTTCTTCACA BRCA1 EX10_89

GAAGAATAGCTTAAATGACTGCAGTAACCAGGTAATattggcaaaggcatctcaggaacatcac cttagtg[a/-

]ggaaacaaaatgttctgctagcttgttttcttcacaGTGCAGTGAATTGGAAGACTTGACTGCAAATACAAA BRCA1 EX10_90

ATTGGCAAAGGCATCTCAGGAACATCACCTTAGTGAggaaacaaaatgttctgctagcttgttttctt cac[a/-

]gtgcagtgaattggaagacttgactgcaaatacaaaCACCCAGGATCCTTTCTTGATTGGTTCTTCCAAACA BRCA1 EX10_91

GGAAACAAAATGTTCTGCTAGCTTGTTTTCTTCACAgtgcagtgaattggaagacttgactgcaaa tacaa[a/-

]cacccaggatcctttcttgattggttcttccaaacaAATGAGGCATCAGTCTGAAAGCCAGGGAGTTGGTCT BRCA1 EX10_92

GTGCAGTGAATTGGAAGACTTGACTGCAAATACAAAcacccaggatcctttcttgattggttcttcca aac[a/-

]aatgaggcatcagtctgaaagccagggagttggtctGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAA G

BRCA1 EX10_93

CACCCAGGATCCTTTCTTGATTGGTTCTTCCAAACAaatgaggcatcagtctgaaagccaggga gttggtc[t/-

]gagtgacaaggaattggtttcagatgatgaagaaagAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAG CA

BRCA1 EX10_94

AATGAGGCATCAGTCTGAAAGCCAGGGAGTTGGTCTgagtgacaaggaattggtttcagatgat gaagaaa[g/-

]aggaacgggcttggaagaaaataatcaagaagagcaAAGCATGGATTCAAACTTAGGTATTGGAACCAGG TT

BRCA1 EX10_95

GAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGaggaacgggcttggaagaaaataatca agaagagc[a/-

]aagcatggattcaaacttaggtattggaaccaggttTTTGTGTTTGCCCCAGTCTATTTATAGAAGTGAGCT BRCA1 EX10_96

AGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAaagcatggattcaaacttaggtattggaa ccaggt[t/-

]tttgtgtttgccccagtctatttatagaagtgagctAAATGTTTATGCTTTTGGGGAGCACATTTTACAAAT BRCA1 EX11_1

AGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTttttgttatttaaggtgaagcagcatctgggtg tg[a/-

]gagtgaaacaagcgtctctgaagactgctcagggctATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAA

(31)

Annexos Pàg.31

BRCA1 EX11_2

TTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAgagtgaaacaagc[g/-

]tctctgaagactgctcagggctatcctctcagagtgacattttaaccactcaggtaaaAAGCGTGTGTGTGTGTGCACA TGCGTGTGTGTGGTG

BRCA1 EX11_3

GAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTatcctctcagagtgacattttaaccactca ggtaa[a/-

]aagcgtgtgtgtgtgtgcacatgcgtgtgtgtggtgTCCTTTGCATTCAGTAGTATGTATCCCACATTCTTA BRCA1 EX12_1

AAGCTTCTCAAAGTATTTCATTTTCTTGGTGCCATTtatcgtttttgaagcagagggataccatgca acat[a/-

]acctgataaagctccagcaggaaatggctgaactagAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTC TA

BRCA1 EX12_2

TATCGTTTTTGAAGCAGAGGGATACCATGCAACATAacctgataaagctccagcaggaaatggc tgaacta[g/-

]aagctgtgttagaacagcatgggagccagccttctaACAGCTACCCTTCCATCATAAGTGACTCTTCTGCCC BRCA1 EX12_3

ACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGaagctgtgttagaacagcatgggagcc agccttct[a/-

]acagctacccttccatcataagtgactcttctgcccTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAG BRCA1 EX12_4

AAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAacagctacccttccatcataagtgactctt ctgcc[c/-

]ttgaggacctgcgaaatccagaacaaagcacatcagAAAAAGGTGTGTATTGTTGGCCAAACACTGATATC T

BRCA1 EX12_5

ACAGCTACCCTTCCATCATAAGTGACTCTTCTGCCCttgaggacctgcgaaatccagaacaaag cacatca[g/-

]aaaaaggtgtgtattgttggccaaacactgatatctTAAGCAAAATTCTTTCCTTCCCCTTTATCTCCTTCT BRCA1 EX13_1

TTTGAACAGTACCCGTTCCCTTGATGTCTACAATTTcacctttcttacagattcgcatatacatggcc aaa[g/-

]gaacaactccatgttttctaaaaggcctagagaacaTATATCAGGTGCCTCTCCTCTTTCCCTTTGTGTTCG BRCA1 EX13_2

CACCTTTCTTACAGATTCGCATATACATGGCCAAAGgaacaactccatgttttctaaaaggcctag agaac[a/-

]tatatcaggtgcctctcctctttccctttgtgttcgTCATTTTGGCAAATTACTGAAAGATGGTGGTTCTGG BRCA1 EX14_1

TCAGAACAAAGCAGTAAAGTAGATTTGTTTTCTCATtccatttaaagcagtattaacttcacagaaa agta[g/-

]tgaataccctataagccagaatccagaaggcctttcTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTAC BRCA1 EX14_2

TCCATTTAAAGCAGTATTAACTTCACAGAAAAGTAGtgaataccctataagccagaatccagaag gccttt[c/-

(32)

Pàg. 32 Annexos

]tgctgacaagtttgaggtgtctgcagatagttctacCAGTAAAAATAAAGAACCAGGAGTGGAAAGGTAAGA BRCA1 EX14_3

TGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCtgctgacaagtttgaggtgtctgcagatag ttcta[c/-

]cagtaaaaataaagaaccaggagtggaaaggtaagaAACATCAATGTAAAGATGCTGTGGTATCTGACAT CT

BRCA1 EX14_4

TGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACcagtaaaaataaagaaccaggagtgga aaggtaag[a/-

]aacatcaatgtaaagatgctgtggtatctgacatctTTATTTATATTGAACTCTGATTGTTAATTTTTTTCA BRCA1 EX15_1

TCCTTTCACAATTGGTGGCGATGGTTTTCTCCTTCCatttatctttctaggtcatccccttctaaatgcc c[a/-

]tcattagatgataggtggtacatgcacagttgctctGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAG BRCA1 EX15_2

ATTTATCTTTCTAGGTCATCCCCTTCTAAATGCCCAtcattagatgataggtggtacatgcacagttg ctc[t/-

]gggagtcttcagaatagaaactacccatctcaagagGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACA G

BRCA1 EX15_3

TCATTAGATGATAGGTGGTACATGCACAGTTGCTCTgggagtcttcagaatagaaactacccatc tcaaga[g/-

]gagctcattaaggttgttgatgtggaggagcaacagCTGGAAGAGTCTGGGCCACACGATTTGACGGAAAC A

BRCA1 EX15_4

GGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGgagctcattaaggttgttgatgtggagga gcaaca[g/-

]ctggaagagtctgggccacacgatttgacggaaacaTCTTACTTGCCAAGGCAAGATCTAGGTAATATTTC A

BRCA1 EX15_5

GAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGctggaagagtctgggccacacgatttga cggaaac[a/-

]tcttacttgccaaggcaagatctaggtaatatttcaTCTGCTGTATTGGAACAAACACTTTGATTTTACTCT BRCA1 EX15_6

CTGGAAGAGTCTGGGCCACACGATTTGACGGAAACAtcttacttgccaaggcaagatctaggtaa tatttc[a/-

]tctgctgtattggaacaaacactttgattttactctGAATCCTACATAAAGATATTCTGGTTAACCAACTTT BRCA1 EX16_1

TAATTCAACATTCATCGTTGTGTAAATTAAACTTCTcccattcctttcagagggaaccccttacctgg aat[c/-

]tggaatcagcctcttctctgatgaccctgaatctgaTCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGT BRCA1 EX16_2

CCCATTCCTTTCAGAGGGAACCCCTTACCTGGAATCtggaatcagcctcttctctgatgaccctga atctg[a/-

]tccttctgaagacagagccccagagtcagctcgtgtTGGCAACATACCATCTTCAACCTCTGCATTGAAAGT

(33)

Annexos Pàg.33

BRCA1 EX16_3

TGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGAtccttctgaagacagagccccagagtcag ctcgtg[t/-

]tggcaacataccatcttcaacctctgcattgaaagtTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCC BRCA1 EX16_4

TCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTtggcaacataccatcttcaacctctgcatt gaaag[t/-

]tccccaattgaaagttgcagaatctgcccagagtccAGCTGCTGCTCATACTACTGATACTGCTGGGTATAA BRCA1 EX16_5

TGGCAACATACCATCTTCAACCTCTGCATTGAAAGTtccccaattgaaagttgcagaatctgccca gagtc[c/-

]agctgctgctcatactactgatactgctgggtataaTGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGA BRCA1 EX16_6

TCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCagctgctgctcatactactgatactgctgg gtata[a/-

]tgcaatggaagaaagtgtgagcagggagaagccagaATTGACAGCTTCAACAGAAAGGGTCAACAAAAGA AT

BRCA1 EX16_7

AGCTGCTGCTCATACTACTGATACTGCTGGGTATAAtgcaatggaagaaagtgtgagcaggga gaagccag[a/-

]attgacagcttcaacagaaagggtcaacaaaagaatGTCCATGGTGGTGTCTGGCCTGACCCCAGAAGAA TT

BRCA1 EX16_8

TGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAattgacagcttcaacagaaagggtcaa caaaagaa[t/-

]gtccatggtggtgtctggcctgaccccagaagaattTGTGAGTGTATCCATATGTATCTCCCTAATGACTAA BRCA1 EX16_9

ATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATgtccatggtggtgtctggcctgaccccag aagaat[t/-

]tgtgagtgtatccatatgtatctccctaatgactaaGACTTAACAACATTCTGGAAAGAGTTTTATGTAGGT BRCA1 EX16_10

GTCCATGGTGGTGTCTGGCCTGACCCCAGAAGAATTtgtgagtgtatccatatgtatctccctaatg acta[a/-

]gacttaacaacattctggaaagagttttatgtaggtATTGTCAATTAATAACCTAGAGGAAGAAATCTAGAA BRCA1 EX17_1

CTGTGTGCTAGAGGTAACTCATGATAATGGAATATTtgatttaatttcagatgctcgtgtacaagtttg cc[a/-

]gaaaacaccacatcactttaactaatctaattactgAAGAGACTACTCATGTTGTTATGAAAACAGGTATAC BRCA1 EX17_2

TGATTTAATTTCAGATGCTCGTGTACAAGTTTGCCAgaaaacaccacatcactttaactaatctaat tact[g/-

]aagagactactcatgttgttatgaaaacaggtatacCAAGAACCTTTACAGAATACCTTGCATCTGCTGCAT BRCA1 EX17_3

GAAAACACCACATCACTTTAACTAATCTAATTACTGaagagactactcatgttgttatgaaaacagg tata[c/-

(34)

Pàg. 34 Annexos

]caagaacctttacagaataccttgcatctgctgcatAAAACCACATGAGGCGAGGCACGGTGGCGCATGCC T

BRCA1 EX18_1

CCTGATTTTGTTTTCAACTTCTAATCCTTTGAGTGTttttcattctgcagatgctgagtttgtgtgtgaac [g/-

]gacactgaaatattttctaggaattgcgggaggaaaATGGGTAGTTAGCTATTTCTGTAAGTATAATACTAT BRCA1 EX18_2

TTTTCATTCTGCAGATGCTGAGTTTGTGTGTGAACGgacactgaaatattttctaggaattgcggg aggaa[a/-

]atgggtagttagctatttctgtaagtataatactatTTCTCCCCTCCTCCCTTTAACACCTCAGAATTGCAT BRCA1 EX18_3

GACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAatgggtagttagctatttctgtaagtataata cta[t/-

]ttctcccctcctccctttaacacctcagaattgcatTTTTACACCTAACGTTTAACACCTAAGGTTTTTGCT BRCA1 EX19_1

GAGCACGTTCTTCTGCTGTATGTAACCTGTCTTTTCtatgatctctttaggggtgacccagtctatta aag[a/-

]aagaaaaatgctgaatgaggtaagtacttgatgttaCAAACTAACCAGAGATATTCATTCAGTCATATAGTT BRCA1 EX19_2

TATGATCTCTTTAGGGGTGACCCAGTCTATTAAAGAaagaaaaatgctgaatgaggtaagtactt gatgtt[a/-

]caaactaaccagagatattcattcagtcatatagttAAAAATGTATTTGCTTCCTTCCATCAATGCACCACT BRCA1 EX20_1

GGAAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTttggtttctttcagcatgattttgaagtcagag ga[g/-

]atgtggtcaatggaagaaaccaccaaggtccaaagcGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCT CC

BRCA1 EX20_2

TTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGatgtggtcaatggaagaaaccaccaagg tccaaag[c/-

]gagcaagagaatcccaggacagaaaggtaaagctccCTCCCTCAAGTTGACAAAAATCTCACCCCACCAC TC

BRCA1 EX20_3

ATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCgagcaagagaatcccaggacagaaa ggtaaagctc[c/-

]ctccctcaagttgacaaaaatctcaccccaccactcTGTATTCCACTCCCCTTTGCAGAGATGGGCCGCTTC BRCA1 EX21_1

TTTTCCTTCTCTCCATTCCCCTGTCCCTCTCTCTTCctctcttcttccagatcttcagggggctagaa atc[t/-

]gttgctatgggcccttcaccaacatgcccacaggtaAGAGCCTGGGAGAACCCCAGAGTTCCAGCACCAGC C

BRCA1 EX21_2

CTCTCTTCTTCCAGATCTTCAGGGGGCTAGAAATCTgttgctatgggcccttcaccaacatgccca caggt[a/-

(35)

Annexos Pàg.35

]agagcctgggagaaccccagagttccagcaccagccTTTGTCTTACATAGTGGAGTATTATAAGCAAGATC C

BRCA1 EX22_1

TTAAGTATGCAGATTACTGCAGTGATTTTACATCTAaatgtccattttagatcaactggaatggatgg tac[a/-

]gctgtgtggtgcttctgtggtgaaggagctttcatcATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGT BRCA1 EX22_2

AATGTCCATTTTAGATCAACTGGAATGGATGGTACAgctgtgtggtgcttctgtggtgaaggagcttt cat[c/-

]attcacccttggcacagtaagtattgggtgccctgtCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCA BRCA1 EX22_3

GCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCattcacccttggcacagtaagtattgggtg ccctg[t/-

]cagagagggaggacacaatattctctcctgtgagcaAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTA C

BRCA1 EX23_1

AGTAGTCCTACTTTGACACTTTGAATGCTCTTTCCTtcctggggatccagggtgtccacccaattgt ggtt[g/-

]tgcagccagatgcctggacagaggacaatggcttccATGGTAAGGTGCCTGCATGTACCTGTGCTATATGG G

BRCA1 EX23_2

TCCTGGGGATCCAGGGTGTCCACCCAATTGTGGTTGtgcagccagatgcctggacagaggac aatggcttc[c/-

]atggtaaggtgcctgcatgtacctgtgctatatgggGTCCTTTTGCATGGGTTTGGTTTATCACTCATTACC BRCA1 EX23_3

TGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCatggtaaggtgcctgcatgtacctgtgct atatgg[g/-

]gtccttttgcatgggtttggtttatcactcattaccTGGTGCTTGAGTAGCACAGTTCTTGGCACATTTTAA BRCA1 EX24_1

TCCAGGAGAATGAATTGACACTAATCTCTGCTTGTGttctctgtctccagcaattgggcagatgtgt gagg[c/-

]acctgtggtgacccgagagtgggtgttggacagtgtAGCACTCTACCAGTGCCAGGAGCTGGACACCTACC T

BRCA1 EX24_2

TTCTCTGTCTCCAGCAATTGGGCAGATGTGTGAGGCacctgtggtgacccgagagtgggtgttgg acagtg[t/-

]agcactctaccagtgccaggagctggacacctacctGATACCCCAGATCCCCCACAGCCACTACTGACTGC A

BRCA1 EX24_3

ACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTagcactctaccagtgccaggagctgga cacctacc[t/-

]gataccccagatcccccacagccactactgactgcaGCCAGCCACAGGTACAGAGCCACAGGACCCCAAG AA

BRCA1 EX24_4

(36)

Pàg. 36 Annexos

AGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTgataccccagatcccccacagccacta ctgactgc[a/-

]gccagccacaggtacagagccacaggaccccaagaaTGAGCTTACAAAGTGGCCTTTCCAGGCCCTGGG AGC

PROVA EX8

GGGAAATTTTTTAGGATCTGATTCTTCTGAAGATACcgttaataaggcaacttattgcaggtgagtc aaag[a/-

]gaacctttgtctatgaagctggtattttcctatttaGTTAATATTAAGGATTGATGTTTCTCTCTTTTTAAA PROVA_EX14

CCTGAATTATCACTATCAGAACAAAGCAGTAAAGTAgatttgttttctcattccatttaaagcagtatta a[c/-

]ttcacagaaaagtagtgaataccctataagccagaaTCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGT C

2.2 Arxiu de sortida d’Assay Design

L’arxiu de sortida d’Assay Design té format .xls. Per poder visualitzar les dades sense perdre el format original, les dades es mostraran en forma de captures de pantalla.

En aquest arxiu es mostren les seqüències dels oligonucleòtids proposats pel

programa juntament amb una sèrie de dades referents a paràmetres relacionats amb

una màquina que ja no s’utilitza al laboratori. Per aquest motiu, i per tal de permetre la

visualització de la informació rellevant, no s’inclouran les columnes de les dades

esmentades.

(37)

Annexos Pàg.37

(38)

Pàg. 38 Annexos

(39)

Annexos Pàg.39

3. Annex III: Beds

En aquest annex es mostren els beds que s’han obtingut durant el procés de disseny de BRCA1.

3.1 Bed original de BRCA1

Aquest és el bed que s’obte després d’utilitzar l’eina Blat amb els resultats d’Assay Design.

17 41245513 41245535 BRCA1_EX10_39_Fwd 17 41245440 41245462 BRCA1_EX10_39_Rev 17 41244288 41244310 BRCA1_EX10_71_Fwd 17 41244361 41244383 BRCA1_EX10_71_Rev 17 41243496 41243518 BRCA1_EX10_93_Fwd 17 41243569 41243591 BRCA1_EX10_93_Rev 17 41246520 41246542 BRCA1_EX10_9_Fwd 17 41246593 41246615 BRCA1_EX10_9_Rev 17 41226542 41226564 BRCA1_EX15_1_Fwd 17 41226469 41226491 BRCA1_EX15_1_Rev 17 41223186 41223208 BRCA1_EX16_1_Fwd 17 41223259 41223281 BRCA1_EX16_1_Rev 17 41215972 41215994 BRCA1_EX18_1_Fwd 17 41215899 41215921 BRCA1_EX18_1_Rev 17 41209083 41209105 BRCA1_EX20_1_Fwd 17 41209156 41209178 BRCA1_EX20_1_Rev 17 41201143 41201165 BRCA1_EX22_3_Fwd 17 41201070 41201092 BRCA1_EX22_3_Rev 17 41256137 41256159 BRCA1_EX6_3_Fwd 17 41256210 41256232 BRCA1_EX6_3_Rev 17 41251792 41251814 BRCA1_EX7_2_Fwd 17 41251865 41251887 BRCA1_EX7_2_Rev

(40)

Pàg. 40 Annexos

17 41246268 41246290 BRCA1_EX10_16_Fwd

17 41246341 41246363 BRCA1_EX10_16_Rev 17 41245837 41245859 BRCA1_EX10_30_Fwd 17 41245764 41245786 BRCA1_EX10_30_Rev 17 41246700 41246722 BRCA1_EX10_4_Fwd 17 41246773 41246795 BRCA1_EX10_4_Rev 17 41245081 41245103 BRCA1_EX10_51_Fwd 17 41245008 41245030 BRCA1_EX10_51_Rev 17 41244180 41244202 BRCA1_EX10_74_Fwd 17 41244253 41244275 BRCA1_EX10_74_Rev 17 41242980 41243002 BRCA1_EX11_1_Fwd 17 41243053 41243075 BRCA1_EX11_1_Rev 17 41231311 41231333 BRCA1_EX13_2_Fwd 17 41231384 41231406 BRCA1_EX13_2_Rev 17 41228487 41228509 BRCA1_EX14_3_Fwd 17 41228560 41228582 BRCA1_EX14_3_Rev 17 41223078 41223100 BRCA1_EX16_4_Fwd 17 41223151 41223173 BRCA1_EX16_4_Rev 17 41199724 41199746 BRCA1_EX23_1_Fwd 17 41199651 41199673 BRCA1_EX23_1_Rev 17 41197715 41197737 BRCA1_EX24_4_Fwd 17 41197642 41197664 BRCA1_EX24_4_Rev 17 41249317 41249336 BRCA1_EX8_1_Fwd 17 41249237 41249259 BRCA1_EX8_1_Rev 17 41246377 41246399 BRCA1_EX10_15_Fwd 17 41246304 41246326 BRCA1_EX10_15_Rev 17 41245729 41245751 BRCA1_EX10_33_Fwd 17 41245656 41245678 BRCA1_EX10_33_Rev 17 41245296 41245318 BRCA1_EX10_43_Fwd 17 41245369 41245391 BRCA1_EX10_43_Rev

(41)

Annexos Pàg.41

17 41244432 41244454 BRCA1_EX10_67_Fwd

(42)

Pàg. 42 Annexos

17 41228596 41228618 BRCA1_EX14_2_Fwd

(43)

Annexos Pàg.43

17 41276117 41276139 BRCA1_EX2_1_Fwd

17 41320270 41320292 BRCA1_EX2_1_Fwd 17 41276044 41276066 BRCA1_EX2_1_Rev 17 41320197 41320219 BRCA1_EX2_1_Rev 17 41256905 41256927 BRCA1_EX5_3_Fwd 17 41256832 41256854 BRCA1_EX5_3_Rev 17 41247798 41247820 BRCA1_EX9_3_Fwd 17 41247871 41247893 BRCA1_EX9_3_Rev 17 41245620 41245642 BRCA1_EX10_34_Fwd 17 41245693 41245715 BRCA1_EX10_34_Rev 17 41244973 41244995 BRCA1_EX10_54_Fwd 17 41244900 41244922 BRCA1_EX10_54_Rev 17 41244685 41244707 BRCA1_EX10_62_Fwd 17 41244612 41244634 BRCA1_EX10_62_Rev 17 41243568 41243590 BRCA1_EX10_91_Fwd 17 41243641 41243663 BRCA1_EX10_91_Rev 17 41234415 41234437 BRCA1_EX12_4_Fwd 17 41234488 41234510 BRCA1_EX12_4_Rev 17 41222970 41222992 BRCA1_EX16_7_Fwd 17 41223043 41223065 BRCA1_EX16_7_Rev 17 41209120 41209142 BRCA1_EX20_2_Fwd 17 41209047 41209069 BRCA1_EX20_2_Rev 17 41201179 41201201 BRCA1_EX22_2_Fwd 17 41201106 41201128 BRCA1_EX22_2_Rev 17 41199579 41199601 BRCA1_EX23_3_Fwd 17 41199652 41199674 BRCA1_EX23_3_Rev 17 41258409 41258431 BRCA1_EX4_3_Fwd 17 41258482 41258504 BRCA1_EX4_3_Rev 17 41251901 41251923 BRCA1_EX7_1_Fwd 17 41251828 41251850 BRCA1_EX7_1_Rev

(44)

Pàg. 44 Annexos

17 41249201 41249223 BRCA1_EX8_2_Fwd

(45)

Annexos Pàg.45

17 41245332 41245354 BRCA1_EX10_42_Fwd

(46)

Pàg. 46 Annexos

17 41243713 41243735 BRCA1_EX10_89_Fwd

17 41243640 41243662 BRCA1_EX10_89_Rev 17 41243497 41243519 BRCA1_EX10_95_Fwd 17 41243424 41243446 BRCA1_EX10_95_Rev 17 41219680 41219702 BRCA1_EX17_2_Fwd 17 41219607 41219629 BRCA1_EX17_2_Rev 17 41203137 41203160 BRCA1_EX21_1_Fwd 17 41203065 41203087 BRCA1_EX21_1_Rev 17 41197787 41197809 BRCA1_EX24_2_Fwd 17 41197714 41197736 BRCA1_EX24_2_Rev 17 41256941 41256963 BRCA1_EX5_2_Fwd 17 41256868 41256890 BRCA1_EX5_2_Rev 17 41256209 41256231 BRCA1_EX6_1_Fwd 17 41256282 41256304 BRCA1_EX6_1_Rev 17 41246016 41246038 BRCA1_EX10_23_Fwd 17 41246089 41246111 BRCA1_EX10_23_Rev 17 41245512 41245534 BRCA1_EX10_37_Fwd 17 41245224 41245246 BRCA1_EX10_45_Fwd 17 41245297 41245319 BRCA1_EX10_45_Rev 17 41245153 41245175 BRCA1_EX10_49_Fwd 17 41245080 41245102 BRCA1_EX10_49_Rev 17 41244576 41244598 BRCA1_EX10_63_Fwd 17 41244649 41244671 BRCA1_EX10_63_Rev 17 41244216 41244238 BRCA1_EX10_73_Fwd 17 41244289 41244311 BRCA1_EX10_73_Rev 17 41244145 41244167 BRCA1_EX10_77_Fwd 17 41244072 41244094 BRCA1_EX10_77_Rev 17 41243964 41243986 BRCA1_EX10_80_Fwd 17 41244037 41244059 BRCA1_EX10_80_Rev 17 41243749 41243771 BRCA1_EX10_88_Fwd

(47)

Annexos Pàg.47

17 41243676 41243698 BRCA1_EX10_88_Rev

17 41234524 41234546 BRCA1_EX12_3_Fwd 17 41234451 41234473 BRCA1_EX12_3_Rev 17 41219571 41219593 BRCA1_EX17_3_Fwd 17 41219644 41219666 BRCA1_EX17_3_Rev 17 41275972 41275994 BRCA1_EX2_3_Fwd 17 41320123 41320145 BRCA1_EX2_3_Fwd 17 41276045 41276067 BRCA1_EX2_3_Rev 17 41320198 41320220 BRCA1_EX2_3_Rev 17 41246448 41246470 BRCA1_EX10_11_Fwd 17 41246521 41246543 BRCA1_EX10_11_Rev 17 41246160 41246182 BRCA1_EX10_19_Fwd 17 41246233 41246255 BRCA1_EX10_19_Rev 17 41246808 41246830 BRCA1_EX10_1_Fwd 17 41246881 41246903 BRCA1_EX10_1_Rev 17 41245800 41245822 BRCA1_EX10_29_Fwd 17 41245873 41245895 BRCA1_EX10_29_Rev 17 41245692 41245714 BRCA1_EX10_32_Fwd 17 41245765 41245787 BRCA1_EX10_32_Rev 17 41244972 41244994 BRCA1_EX10_52_Fwd 17 41245045 41245067 BRCA1_EX10_52_Rev 17 41244720 41244742 BRCA1_EX10_59_Fwd 17 41244793 41244815 BRCA1_EX10_59_Rev 17 41244396 41244418 BRCA1_EX10_68_Fwd 17 41244469 41244491 BRCA1_EX10_68_Rev 17 41246701 41246723 BRCA1_EX10_6_Fwd 17 41246628 41246650 BRCA1_EX10_6_Rev 17 41228559 41228581 BRCA1_EX14_1_Fwd 17 41228632 41228654 BRCA1_EX14_1_Rev 17 41267764 41267786 BRCA1_EX3_2_Fwd

(48)

Pàg. 48 Annexos

17 41267691 41267713 BRCA1_EX3_2_Rev

17 41256138 41256160 BRCA1_EX6_5_Fwd 17 41246232 41246254 BRCA1_EX10_17_Fwd 17 41246305 41246327 BRCA1_EX10_17_Rev 17 41246052 41246074 BRCA1_EX10_22_Fwd 17 41246125 41246147 BRCA1_EX10_22_Rev 17 41245801 41245823 BRCA1_EX10_31_Fwd 17 41245728 41245750 BRCA1_EX10_31_Rev 17 41245009 41245031 BRCA1_EX10_53_Fwd 17 41244936 41244958 BRCA1_EX10_53_Rev 17 41244408 41244430 BRCA1_EX10_70_Fwd 17 41244324 41244346 BRCA1_EX10_70_Rev 17 41246665 41246687 BRCA1_EX10_7_Fwd 17 41246592 41246614 BRCA1_EX10_7_Rev 17 41243893 41243915 BRCA1_EX10_84_Fwd 17 41243820 41243842 BRCA1_EX10_84_Rev 17 41243532 41243554 BRCA1_EX10_92_Fwd 17 41243605 41243627 BRCA1_EX10_92_Rev 17 41226470 41226492 BRCA1_EX15_3_Fwd 17 41226397 41226419 BRCA1_EX15_3_Rev 17 41209084 41209106 BRCA1_EX20_3_Fwd 17 41209011 41209033 BRCA1_EX20_3_Rev 17 41258564 41258586 BRCA1_EX4_1_Fwd 17 41258481 41258503 BRCA1_EX4_1_Rev 17 41249274 41249296 PROVA_EX8_Fwd 17 41249201 41249223 PROVA_EX8_Rev 17 41246376 41246398 BRCA1_EX10_13_Fwd 17 41246449 41246471 BRCA1_EX10_13_Rev 17 41246017 41246039 BRCA1_EX10_25_Fwd 17 41245944 41245966 BRCA1_EX10_25_Rev

(49)

Annexos Pàg.49

17 41245477 41245499 BRCA1_EX10_40_Fwd

17 41245404 41245426 BRCA1_EX10_40_Rev 17 41245261 41245283 BRCA1_EX10_46_Fwd 17 41245188 41245210 BRCA1_EX10_46_Rev 17 41244865 41244887 BRCA1_EX10_57_Fwd 17 41244792 41244814 BRCA1_EX10_57_Rev 17 41244721 41244743 BRCA1_EX10_61_Fwd 17 41244648 41244670 BRCA1_EX10_61_Rev 17 41215394 41215416 BRCA1_EX19_1_Fwd 17 41215321 41215343 BRCA1_EX19_1_Rev 17 41197750 41197772 BRCA1_EX24_1_Fwd 17 41197823 41197845 BRCA1_EX24_1_Rev 17 41197751 41197773 BRCA1_EX24_3_Fwd 17 41197678 41197700 BRCA1_EX24_3_Rev 17 41256246 41256268 BRCA1_EX6_2_Fwd 17 41256173 41256195 BRCA1_EX6_2_Rev 17 41247943 41247965 BRCA1_EX9_1_Fwd 17 41247870 41247892 BRCA1_EX9_1_Rev 17 41228647 41228669 PROVA_EX14_Fwd 17 41228574 41228596 PROVA_EX14_Rev 17 41245657 41245679 BRCA1_EX10_35_Fwd 17 41245333 41245355 BRCA1_EX10_44_Fwd 17 41245260 41245282 BRCA1_EX10_44_Rev 17 41243856 41243878 BRCA1_EX10_83_Fwd 17 41243929 41243951 BRCA1_EX10_83_Rev 17 41234523 41234545 BRCA1_EX12_1_Fwd 17 41234596 41234618 BRCA1_EX12_1_Rev 17 41228524 41228546 BRCA1_EX14_4_Fwd 17 41228451 41228473 BRCA1_EX14_4_Rev 17 41226434 41226456 BRCA1_EX15_4_Fwd

(50)

Pàg. 50 Annexos

17 41226361 41226383 BRCA1_EX15_4_Rev

17 41223150 41223172 BRCA1_EX16_2_Fwd 17 41223223 41223245 BRCA1_EX16_2_Rev 17 41223124 41223146 BRCA1_EX16_5_Fwd 17 41223042 41223064 BRCA1_EX16_5_Rev 17 41222971 41222993 BRCA1_EX16_9_Fwd 17 41222898 41222920 BRCA1_EX16_9_Rev 17 41215827 41215849 BRCA1_EX18_3_Fwd 17 41215900 41215922 BRCA1_EX18_3_Rev 17 41215358 41215380 BRCA1_EX19_2_Fwd 17 41215285 41215307 BRCA1_EX19_2_Rev 17 41199615 41199637 BRCA1_EX23_2_Fwd 17 41199688 41199710 BRCA1_EX23_2_Rev 17 41246413 41246435 BRCA1_EX10_14_Fwd 17 41246340 41246362 BRCA1_EX10_14_Rev 17 41246197 41246219 BRCA1_EX10_20_Fwd 17 41246124 41246146 BRCA1_EX10_20_Rev 17 41246053 41246075 BRCA1_EX10_24_Fwd 17 41245980 41246002 BRCA1_EX10_24_Rev 17 41245945 41245967 BRCA1_EX10_27_Fwd 17 41245872 41245894 BRCA1_EX10_27_Rev 17 41244684 41244706 BRCA1_EX10_60_Fwd 17 41244757 41244779 BRCA1_EX10_60_Rev 17 41243785 41243807 BRCA1_EX10_87_Fwd 17 41243712 41243734 BRCA1_EX10_87_Rev

3.2 Bed de regions úniques

Després d’utilitzar la macro s’obté l’arxiu de regions úniques que es mostra a continuació.

17 41197664 41197700 BRCA1_EX24_4_RU

(51)

Annexos Pàg.51

17 41197715 41197736 BRCA1_EX24_3_RU

17 41197751 41197772 BRCA1_EX24_2_RU 17 41197787 41197823 BRCA1_EX24_1_RU 17 41199601 41199637 BRCA1_EX23_3_RU 17 41199652 41199673 BRCA1_EX23_2_RU 17 41199688 41199724 BRCA1_EX23_1_RU 17 41201092 41201128 BRCA1_EX22_3_RU 17 41201143 41201164 BRCA1_EX22_2_RU 17 41201179 41201215 BRCA1_EX22_1_RU 17 41203051 41203087 BRCA1_EX21_2_RU 17 41203102 41203137 BRCA1_EX21_1_RU 17 41209033 41209069 BRCA1_EX20_3_RU 17 41209084 41209105 BRCA1_EX20_2_RU 17 41209120 41209156 BRCA1_EX20_1_RU 17 41215307 41215343 BRCA1_EX19_2_RU 17 41215358 41215394 BRCA1_EX19_1_RU 17 41215849 41215885 BRCA1_EX18_3_RU 17 41215900 41215921 BRCA1_EX18_2_RU 17 41215936 41215972 BRCA1_EX18_1_RU 17 41219593 41219629 BRCA1_EX17_3_RU 17 41219644 41219665 BRCA1_EX17_2_RU 17 41219680 41219716 BRCA1_EX17_1_RU 17 41222884 41222920 BRCA1_EX16_10_RU 17 41222935 41222956 BRCA1_EX16_9_RU 17 41222971 41222992 BRCA1_EX16_8_RU 17 41223007 41223028 BRCA1_EX16_7_RU 17 41223043 41223064 BRCA1_EX16_6_RU 17 41223079 41223100 BRCA1_EX16_5_RU 17 41223124 41223126 BRCA1_EX16_4_RU 17 41223151 41223172 BRCA1_EX16_3_RU

(52)

Pàg. 52 Annexos

17 41223187 41223208 BRCA1_EX16_2_RU

17 41223223 41223259 BRCA1_EX16_1_RU 17 41226311 41226347 BRCA1_EX15_6_RU 17 41226362 41226383 BRCA1_EX15_5_RU 17 41226398 41226419 BRCA1_EX15_4_RU 17 41226434 41226455 BRCA1_EX15_3_RU 17 41226470 41226491 BRCA1_EX15_2_RU 17 41226506 41226542 BRCA1_EX15_1_RU 17 41228473 41228509 BRCA1_EX14_4_RU 17 41228524 41228545 BRCA1_EX14_3_RU 17 41228560 41228581 BRCA1_EX14_2_RU 17 41228596 41228632 BRCA1_EX14_1_RU 17 41231333 41231369 BRCA1_EX13_2_RU 17 41231384 41231420 BRCA1_EX13_1_RU 17 41234401 41234437 BRCA1_EX12_5_RU 17 41234452 41234473 BRCA1_EX12_4_RU 17 41234488 41234509 BRCA1_EX12_3_RU 17 41234524 41234545 BRCA1_EX12_2_RU 17 41234560 41234596 BRCA1_EX12_1_RU 17 41242930 41242981 BRCA1_EX11_3_RU 17 41243002 41243053 BRCA1_EX11_1_RU 17 41243410 41243446 BRCA1_EX10_96_RU 17 41243461 41243482 BRCA1_EX10_95_RU 17 41243497 41243518 BRCA1_EX10_94_RU 17 41243533 41243554 BRCA1_EX10_93_RU 17 41243569 41243590 BRCA1_EX10_92_RU 17 41243605 41243626 BRCA1_EX10_91_RU 17 41243641 41243662 BRCA1_EX10_90_RU 17 41243677 41243698 BRCA1_EX10_89_RU 17 41243713 41243734 BRCA1_EX10_88_RU