| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | CA1737331753 | CFTR | c.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*694-3_*938delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | |
| 7 | g.117540100_117540346del | CA913189992 | CFTR | c.870_1116del c.*767_*1013del c.*694_*940del c.627_873del c.780_1026del c.960_1206del | ClinVar dbSNP |
| 7 | g.117540175_117540176delinsCT | CA1737331923 | CFTR | c.945_946delinsCT (p.Phe315=) c.*842_*843delinsCT (n.*842_*843delinsCT) c.*769_*770delinsCT (n.*769_*770delinsCT) c.702_703delinsCT (p.Phe234=) c.855_856delinsCT (p.Phe285=) c.1035_1036delinsCT (p.Phe345=) | |
| 7 | g.117540176T>A | CA368978421 | CFTR | c.946T>A (p.Phe316Ile) c.*843T>A (n.*843T>A) c.*770T>A (n.*770T>A) c.703T>A (p.Phe235Ile) c.856T>A (p.Phe286Ile) c.1036T>A (p.Phe346Ile) | |
| 7 | g.117540176T>C | CA368978420 | CFTR | c.946T>C (p.Phe316Leu) c.*843T>C (n.*843T>C) c.*770T>C (n.*770T>C) c.703T>C (p.Phe235Leu) c.856T>C (p.Phe286Leu) c.1036T>C (p.Phe346Leu) | |
| 7 | g.117540176T>G | CA368978419 | CFTR | c.946T>G (p.Phe316Val) c.*843T>G (n.*843T>G) c.*770T>G (n.*770T>G) c.703T>G (p.Phe235Val) c.856T>G (p.Phe286Val) c.1036T>G (p.Phe346Val) | |
| 7 | g.117540178dup | CA164953544 | CFTR | c.948dup (p.Val317CysfsTer?) c.*845dup (n.*845dup) c.*772dup (n.*772dup) c.705dup (p.Val236CysfsTer?) c.858dup (p.Val287CysfsTer?) c.1038dup (p.Val347CysfsTer?) | ClinVar |
| 7 | g.117540178del | CA221039 | CFTR | c.948del (p.Phe316LeufsTer12) c.*845del (n.*845del) c.*772del (n.*772del) c.705del (p.Phe235LeufsTer12) c.858del (p.Phe286LeufsTer12) c.1038del (p.Phe346LeufsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540177T>A | CA368978423 | CFTR | c.947T>A (p.Phe316Tyr) c.*844T>A (n.*844T>A) c.*771T>A (n.*771T>A) c.704T>A (p.Phe235Tyr) c.857T>A (p.Phe286Tyr) c.1037T>A (p.Phe346Tyr) | ClinVar dbSNP |
| 7 | g.117540177T>C | CA164953556 | CFTR | c.947T>C (p.Phe316Ser) c.*844T>C (n.*844T>C) c.*771T>C (n.*771T>C) c.704T>C (p.Phe235Ser) c.857T>C (p.Phe286Ser) c.1037T>C (p.Phe346Ser) | dbSNP |
| 7 | g.117540177T>G | CA368978425 | CFTR | c.947T>G (p.Phe316Cys) c.*844T>G (n.*844T>G) c.*771T>G (n.*771T>G) c.704T>G (p.Phe235Cys) c.857T>G (p.Phe286Cys) c.1037T>G (p.Phe346Cys) | |
| 7 | g.117540177T= | CA1737331933 | CFTR | c.947T= (p.Phe316=) c.*844T= (n.*844T=) c.*771T= (n.*771T=) c.704T= (p.Phe235=) c.857T= (p.Phe286=) c.1037T= (p.Phe346=) | |
| 7 | g.117540178T>A | CA368978427 | CFTR | c.948T>A (p.Phe316Leu) c.*845T>A (n.*845T>A) c.*772T>A (n.*772T>A) c.705T>A (p.Phe235Leu) c.858T>A (p.Phe286Leu) c.1038T>A (p.Phe346Leu) | |
| 7 | g.117540178T>C | CA457448630 | CFTR | c.948T>C (p.Phe316=) c.*845T>C (n.*845T>C) c.*772T>C (n.*772T>C) c.705T>C (p.Phe235=) c.858T>C (p.Phe286=) c.1038T>C (p.Phe346=) | |
| 7 | g.117540178T>G | CA10603955 | CFTR | c.948T>G (p.Phe316Leu) c.*845T>G (n.*845T>G) c.*772T>G (n.*772T>G) c.705T>G (p.Phe235Leu) c.858T>G (p.Phe286Leu) c.1038T>G (p.Phe346Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540178T= | CA1737331938 | CFTR | c.948T= (p.Phe316=) c.*845T= (n.*845T=) c.*772T= (n.*772T=) c.705T= (p.Phe235=) c.858T= (p.Phe286=) c.1038T= (p.Phe346=) | |
| 7 | g.117540179G>A | CA368978429 | CFTR | c.949G>A (p.Val317Met) c.*846G>A (n.*846G>A) c.*773G>A (n.*773G>A) c.706G>A (p.Val236Met) c.859G>A (p.Val287Met) c.1039G>A (p.Val347Met) | ClinVar gnomAD v4 |
| 7 | g.117540179G>C | CA368978431 | CFTR | c.949G>C (p.Val317Leu) c.*846G>C (n.*846G>C) c.*773G>C (n.*773G>C) c.706G>C (p.Val236Leu) c.859G>C (p.Val287Leu) c.1039G>C (p.Val347Leu) | |
| 7 | g.117540179G>T | CA368978434 | CFTR | c.949G>T (p.Val317Leu) c.*846G>T (n.*846G>T) c.*773G>T (n.*773G>T) c.706G>T (p.Val236Leu) c.859G>T (p.Val287Leu) c.1039G>T (p.Val347Leu) | |
| 7 | g.117540180T>A | CA368978447 | CFTR | c.950T>A (p.Val317Glu) c.*847T>A (n.*847T>A) c.*774T>A (n.*774T>A) c.707T>A (p.Val236Glu) c.860T>A (p.Val287Glu) c.1040T>A (p.Val347Glu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540180T>C | CA368978444 | CFTR | c.950T>C (p.Val317Ala) c.*847T>C (n.*847T>C) c.*774T>C (n.*774T>C) c.707T>C (p.Val236Ala) c.860T>C (p.Val287Ala) c.1040T>C (p.Val347Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540180T>G | CA368978446 | CFTR | c.950T>G (p.Val317Gly) c.*847T>G (n.*847T>G) c.*774T>G (n.*774T>G) c.707T>G (p.Val236Gly) c.860T>G (p.Val287Gly) c.1040T>G (p.Val347Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540180T= | CA1737331942 | CFTR | c.950T= (p.Val317=) c.*847T= (n.*847T=) c.*774T= (n.*774T=) c.707T= (p.Val236=) c.860T= (p.Val287=) c.1040T= (p.Val347=) | |
| 7 | g.117540181G>A | CA457448633 | CFTR | c.951G>A (p.Val317=) c.*848G>A (n.*848G>A) c.*775G>A (n.*775G>A) c.708G>A (p.Val236=) c.861G>A (p.Val287=) c.1041G>A (p.Val347=) | gnomAD v4 |
| 7 | g.117540181G>C | CA457448634 | CFTR | c.951G>C (p.Val317=) c.*848G>C (n.*848G>C) c.*775G>C (n.*775G>C) c.708G>C (p.Val236=) c.861G>C (p.Val287=) c.1041G>C (p.Val347=) | |
| 7 | g.117540181G>T | CA457448635 | CFTR | c.951G>T (p.Val317=) c.*848G>T (n.*848G>T) c.*775G>T (n.*775G>T) c.708G>T (p.Val236=) c.861G>T (p.Val287=) c.1041G>T (p.Val347=) | |
| 7 | g.117540182G>A | CA368978450 | CFTR | c.952G>A (p.Val318Met) c.*849G>A (n.*849G>A) c.*776G>A (n.*776G>A) c.709G>A (p.Val237Met) c.862G>A (p.Val288Met) c.1042G>A (p.Val348Met) | |
| 7 | g.117540182G>C | CA368978454 | CFTR | c.952G>C (p.Val318Leu) c.*849G>C (n.*849G>C) c.*776G>C (n.*776G>C) c.709G>C (p.Val237Leu) c.862G>C (p.Val288Leu) c.1042G>C (p.Val348Leu) | |
| 7 | g.117540182G>T | CA368978455 | CFTR | c.952G>T (p.Val318Leu) c.*849G>T (n.*849G>T) c.*776G>T (n.*776G>T) c.709G>T (p.Val237Leu) c.862G>T (p.Val288Leu) c.1042G>T (p.Val348Leu) | |
| 7 | g.117540183T>A | CA368978457 | CFTR | c.953T>A (p.Val318Glu) c.*850T>A (n.*850T>A) c.*777T>A (n.*777T>A) c.710T>A (p.Val237Glu) c.863T>A (p.Val288Glu) c.1043T>A (p.Val348Glu) | |
| 7 | g.117540183T>C | CA368978460 | CFTR | c.953T>C (p.Val318Ala) c.*850T>C (n.*850T>C) c.*777T>C (n.*777T>C) c.710T>C (p.Val237Ala) c.863T>C (p.Val288Ala) c.1043T>C (p.Val348Ala) | |
| 7 | g.117540183T>G | CA368978462 | CFTR | c.953T>G (p.Val318Gly) c.*850T>G (n.*850T>G) c.*777T>G (n.*777T>G) c.710T>G (p.Val237Gly) c.863T>G (p.Val288Gly) c.1043T>G (p.Val348Gly) | |
| 7 | g.117540184G>A | CA4450869 | CFTR | c.954G>A (p.Val318=) c.*851G>A (n.*851G>A) c.*778G>A (n.*778G>A) c.711G>A (p.Val237=) c.864G>A (p.Val288=) c.1044G>A (p.Val348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540184G>C | CA457448639 | CFTR | c.954G>C (p.Val318=) c.*851G>C (n.*851G>C) c.*778G>C (n.*778G>C) c.711G>C (p.Val237=) c.864G>C (p.Val288=) c.1044G>C (p.Val348=) | |
| 7 | g.117540184G= | CA1737331950 | CFTR | c.954G= (p.Val318=) c.*851G= (n.*851G=) c.*778G= (n.*778G=) c.711G= (p.Val237=) c.864G= (p.Val288=) c.1044G= (p.Val348=) | |
| 7 | g.117540184G>T | CA457448638 | CFTR | c.954G>T (p.Val318=) c.*851G>T (n.*851G>T) c.*778G>T (n.*778G>T) c.711G>T (p.Val237=) c.864G>T (p.Val288=) c.1044G>T (p.Val348=) | |
| 7 | g.117540184_117540185delinsGT | CA1737331953 | CFTR | c.954_955delinsGT (p.Val318=) c.*851_*852delinsGT (n.*851_*852delinsGT) c.*778_*779delinsGT (n.*778_*779delinsGT) c.711_712delinsGT (p.Val237=) c.864_865delinsGT (p.Val288=) c.1044_1045delinsGT (p.Val348=) | |
| 7 | g.117540185T>A | CA368978467 | CFTR | c.955T>A (p.Phe319Ile) c.*852T>A (n.*852T>A) c.*779T>A (n.*779T>A) c.712T>A (p.Phe238Ile) c.865T>A (p.Phe289Ile) c.1045T>A (p.Phe349Ile) | |
| 7 | g.117540185T>C | CA368978470 | CFTR | c.955T>C (p.Phe319Leu) c.*852T>C (n.*852T>C) c.*779T>C (n.*779T>C) c.712T>C (p.Phe238Leu) c.865T>C (p.Phe289Leu) c.1045T>C (p.Phe349Leu) | |
| 7 | g.117540185T>G | CA368978471 | CFTR | c.955T>G (p.Phe319Val) c.*852T>G (n.*852T>G) c.*779T>G (n.*779T>G) c.712T>G (p.Phe238Val) c.865T>G (p.Phe289Val) c.1045T>G (p.Phe349Val) | |
| 7 | g.117540189del | CA915945467 | CFTR | c.959del (p.Leu320TyrfsTer8) c.*856del (n.*856del) c.*783del (n.*783del) c.716del (p.Leu239TyrfsTer8) c.869del (p.Leu290TyrfsTer8) c.1049del (p.Leu350TyrfsTer8) | ClinVar dbSNP |
| 7 | g.117540186T>A | CA368978473 | CFTR | c.956T>A (p.Phe319Tyr) c.*853T>A (n.*853T>A) c.*780T>A (n.*780T>A) c.713T>A (p.Phe238Tyr) c.866T>A (p.Phe289Tyr) c.1046T>A (p.Phe349Tyr) | |
| 7 | g.117540186T>C | CA368978476 | CFTR | c.956T>C (p.Phe319Ser) c.*853T>C (n.*853T>C) c.*780T>C (n.*780T>C) c.713T>C (p.Phe238Ser) c.866T>C (p.Phe289Ser) c.1046T>C (p.Phe349Ser) | |
| 7 | g.117540186T>G | CA368978478 | CFTR | c.956T>G (p.Phe319Cys) c.*853T>G (n.*853T>G) c.*780T>G (n.*780T>G) c.713T>G (p.Phe238Cys) c.866T>G (p.Phe289Cys) c.1046T>G (p.Phe349Cys) | |
| 7 | g.117540187T>A | CA368978479 | CFTR | c.957T>A (p.Phe319Leu) c.*854T>A (n.*854T>A) c.*781T>A (n.*781T>A) c.714T>A (p.Phe238Leu) c.867T>A (p.Phe289Leu) c.1047T>A (p.Phe349Leu) | |
| 7 | g.117540187T>C | CA457448643 | CFTR | c.957T>C (p.Phe319=) c.*854T>C (n.*854T>C) c.*781T>C (n.*781T>C) c.714T>C (p.Phe238=) c.867T>C (p.Phe289=) c.1047T>C (p.Phe349=) | |
| 7 | g.117540187T>G | CA368978482 | CFTR | c.957T>G (p.Phe319Leu) c.*854T>G (n.*854T>G) c.*781T>G (n.*781T>G) c.714T>G (p.Phe238Leu) c.867T>G (p.Phe289Leu) c.1047T>G (p.Phe349Leu) | |
| 7 | g.117540188T>A | CA368978483 | CFTR | c.958T>A (p.Leu320Ile) c.*855T>A (n.*855T>A) c.*782T>A (n.*782T>A) c.715T>A (p.Leu239Ile) c.868T>A (p.Leu290Ile) c.1048T>A (p.Leu350Ile) | |
| 7 | g.117540188T>C | CA457448644 | CFTR | c.958T>C (p.Leu320=) c.*855T>C (n.*855T>C) c.*782T>C (n.*782T>C) c.715T>C (p.Leu239=) c.868T>C (p.Leu290=) c.1048T>C (p.Leu350=) | |
| 7 | g.117540188T>G | CA325718 | CFTR | c.958T>G (p.Leu320Val) c.*855T>G (n.*855T>G) c.*782T>G (n.*782T>G) c.715T>G (p.Leu239Val) c.868T>G (p.Leu290Val) c.1048T>G (p.Leu350Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |