| 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.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 |
| 7 | g.117540188T= | CA1737331960 | CFTR | c.958T= (p.Leu320=) c.*855T= (n.*855T=) c.*782T= (n.*782T=) c.715T= (p.Leu239=) c.868T= (p.Leu290=) c.1048T= (p.Leu350=) | |
| 7 | g.117540189T>A | CA327699 | CFTR | c.959T>A (p.Leu320Ter) c.*856T>A (n.*856T>A) c.*783T>A (n.*783T>A) c.716T>A (p.Leu239Ter) c.869T>A (p.Leu290Ter) c.1049T>A (p.Leu350Ter) | ClinVar dbSNP |
| 7 | g.117540189T>C | CA368978486 | CFTR | c.959T>C (p.Leu320Ser) c.*856T>C (n.*856T>C) c.*783T>C (n.*783T>C) c.716T>C (p.Leu239Ser) c.869T>C (p.Leu290Ser) c.1049T>C (p.Leu350Ser) | gnomAD v4 |
| 7 | g.117540189T>G | CA368978484 | CFTR | c.959T>G (p.Leu320Ter) c.*856T>G (n.*856T>G) c.*783T>G (n.*783T>G) c.716T>G (p.Leu239Ter) c.869T>G (p.Leu290Ter) c.1049T>G (p.Leu350Ter) | |
| 7 | g.117540189T= | CA1737331965 | CFTR | c.959T= (p.Leu320=) c.*856T= (n.*856T=) c.*783T= (n.*783T=) c.716T= (p.Leu239=) c.869T= (p.Leu290=) c.1049T= (p.Leu350=) | |
| 7 | g.117540190A= | CA1737331973 | CFTR | c.960A= (p.Leu320=) c.*857A= (n.*857A=) c.*784A= (n.*784A=) c.717A= (p.Leu239=) c.870A= (p.Leu290=) c.1050A= (p.Leu350=) | |
| 7 | g.117540190A>C | CA368978487 | CFTR | c.960A>C (p.Leu320Phe) c.*857A>C (n.*857A>C) c.*784A>C (n.*784A>C) c.717A>C (p.Leu239Phe) c.870A>C (p.Leu290Phe) c.1050A>C (p.Leu350Phe) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540190A>G | CA10605106 | CFTR | c.960A>G (p.Leu320=) c.*857A>G (n.*857A>G) c.*784A>G (n.*784A>G) c.717A>G (p.Leu239=) c.870A>G (p.Leu290=) c.1050A>G (p.Leu350=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540190A>T | CA327703 | CFTR | c.960A>T (p.Leu320Phe) c.*857A>T (n.*857A>T) c.*784A>T (n.*784A>T) c.717A>T (p.Leu239Phe) c.870A>T (p.Leu290Phe) c.1050A>T (p.Leu350Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540190dup | CA2580076446 | CFTR | c.960dup (p.Ser321IlefsTer?) c.*857dup (n.*857dup) c.*784dup (n.*784dup) c.717dup (p.Ser240IlefsTer?) c.870dup (p.Ser291IlefsTer?) c.1050dup (p.Ser351IlefsTer?) | ClinVar |
| 7 | g.117540191T>A | CA368978499 | CFTR | c.961T>A (p.Ser321Thr) c.*858T>A (n.*858T>A) c.*785T>A (n.*785T>A) c.718T>A (p.Ser240Thr) c.871T>A (p.Ser291Thr) c.1051T>A (p.Ser351Thr) | |
| 7 | g.117540191T>C | CA4450870 | CFTR | c.961T>C (p.Ser321Pro) c.*858T>C (n.*858T>C) c.*785T>C (n.*785T>C) c.718T>C (p.Ser240Pro) c.871T>C (p.Ser291Pro) c.1051T>C (p.Ser351Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540191T>G | CA368978506 | CFTR | c.961T>G (p.Ser321Ala) c.*858T>G (n.*858T>G) c.*785T>G (n.*785T>G) c.718T>G (p.Ser240Ala) c.871T>G (p.Ser291Ala) c.1051T>G (p.Ser351Ala) | |
| 7 | g.117540191T= | CA1737331976 | CFTR | c.961T= (p.Ser321=) c.*858T= (n.*858T=) c.*785T= (n.*785T=) c.718T= (p.Ser240=) c.871T= (p.Ser291=) c.1051T= (p.Ser351=) | |
| 7 | g.117540192del | CA2580076447 | CFTR | c.962del (p.Ser321LeufsTer7) c.*859del (n.*859del) c.*786del (n.*786del) c.719del (p.Ser240LeufsTer7) c.872del (p.Ser291LeufsTer7) c.1052del (p.Ser351LeufsTer7) | ClinVar |
| 7 | g.117540192C>A | CA368978509 | CFTR | c.962C>A (p.Ser321Tyr) c.*859C>A (n.*859C>A) c.*786C>A (n.*786C>A) c.719C>A (p.Ser240Tyr) c.872C>A (p.Ser291Tyr) c.1052C>A (p.Ser351Tyr) | |
| 7 | g.117540192C= | CA1737331980 | CFTR | c.962C= (p.Ser321=) c.*859C= (n.*859C=) c.*786C= (n.*786C=) c.719C= (p.Ser240=) c.872C= (p.Ser291=) c.1052C= (p.Ser351=) | |
| 7 | g.117540192C>G | CA368978510 | CFTR | c.962C>G (p.Ser321Cys) c.*859C>G (n.*859C>G) c.*786C>G (n.*786C>G) c.719C>G (p.Ser240Cys) c.872C>G (p.Ser291Cys) c.1052C>G (p.Ser351Cys) | ClinVar dbSNP |
| 7 | g.117540192C>T | CA368978511 | CFTR | c.962C>T (p.Ser321Phe) c.*859C>T (n.*859C>T) c.*786C>T (n.*786C>T) c.719C>T (p.Ser240Phe) c.872C>T (p.Ser291Phe) c.1052C>T (p.Ser351Phe) | COSMIC |
| 7 | g.117540193T>A | CA457448649 | CFTR | c.963T>A (p.Ser321=) c.*860T>A (n.*860T>A) c.*787T>A (n.*787T>A) c.720T>A (p.Ser240=) c.873T>A (p.Ser291=) c.1053T>A (p.Ser351=) | |
| 7 | g.117540193T>C | CA4450871 | CFTR | c.963T>C (p.Ser321=) c.*860T>C (n.*860T>C) c.*787T>C (n.*787T>C) c.720T>C (p.Ser240=) c.873T>C (p.Ser291=) c.1053T>C (p.Ser351=) | dbSNP ExAC gnomAD v2 |
| 7 | g.117540193T>G | CA457448650 | CFTR | c.963T>G (p.Ser321=) c.*860T>G (n.*860T>G) c.*787T>G (n.*787T>G) c.720T>G (p.Ser240=) c.873T>G (p.Ser291=) c.1053T>G (p.Ser351=) | COSMIC |
| 7 | g.117540193T= | CA1737331984 | CFTR | c.963T= (p.Ser321=) c.*860T= (n.*860T=) c.*787T= (n.*787T=) c.720T= (p.Ser240=) c.873T= (p.Ser291=) c.1053T= (p.Ser351=) | |
| 7 | g.117540194G>A | CA132755 | CFTR | c.964G>A (p.Val322Met) c.*861G>A (n.*861G>A) c.*788G>A (n.*788G>A) c.721G>A (p.Val241Met) c.874G>A (p.Val292Met) c.1054G>A (p.Val352Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540194G>C | CA368978521 | CFTR | c.964G>C (p.Val322Leu) c.*861G>C (n.*861G>C) c.*788G>C (n.*788G>C) c.721G>C (p.Val241Leu) c.874G>C (p.Val292Leu) c.1054G>C (p.Val352Leu) | |
| 7 | g.117540194G= | CA1737331991 | CFTR | c.964G= (p.Val322=) c.*861G= (n.*861G=) c.*788G= (n.*788G=) c.721G= (p.Val241=) c.874G= (p.Val292=) c.1054G= (p.Val352=) | |
| 7 | g.117540194G>T | CA368978522 | CFTR | c.964G>T (p.Val322Leu) c.*861G>T (n.*861G>T) c.*788G>T (n.*788G>T) c.721G>T (p.Val241Leu) c.874G>T (p.Val292Leu) c.1054G>T (p.Val352Leu) | |
| 7 | g.117540195T>A | CA368978531 | CFTR | c.965T>A (p.Val322Glu) c.*862T>A (n.*862T>A) c.*789T>A (n.*789T>A) c.722T>A (p.Val241Glu) c.875T>A (p.Val292Glu) c.1055T>A (p.Val352Glu) | |
| 7 | g.117540195T>C | CA368978524 | CFTR | c.965T>C (p.Val322Ala) c.*862T>C (n.*862T>C) c.*789T>C (n.*789T>C) c.722T>C (p.Val241Ala) c.875T>C (p.Val292Ala) c.1055T>C (p.Val352Ala) | |
| 7 | g.117540195T>G | CA368978527 | CFTR | c.965T>G (p.Val322Gly) c.*862T>G (n.*862T>G) c.*789T>G (n.*789T>G) c.722T>G (p.Val241Gly) c.875T>G (p.Val292Gly) c.1055T>G (p.Val352Gly) | |
| 7 | g.117540196G>A | CA457448655 | CFTR | c.966G>A (p.Val322=) c.*863G>A (n.*863G>A) c.*790G>A (n.*790G>A) c.723G>A (p.Val241=) c.876G>A (p.Val292=) c.1056G>A (p.Val352=) | |
| 7 | g.117540196G>C | CA457448656 | CFTR | c.966G>C (p.Val322=) c.*863G>C (n.*863G>C) c.*790G>C (n.*790G>C) c.723G>C (p.Val241=) c.876G>C (p.Val292=) c.1056G>C (p.Val352=) | ClinVar dbSNP |
| 7 | g.117540196G>T | CA457448657 | CFTR | c.966G>T (p.Val322=) c.*863G>T (n.*863G>T) c.*790G>T (n.*790G>T) c.723G>T (p.Val241=) c.876G>T (p.Val292=) c.1056G>T (p.Val352=) | |
| 7 | g.117540197C>A | CA368978533 | CFTR | c.967C>A (p.Leu323Ile) c.*864C>A (n.*864C>A) c.*791C>A (n.*791C>A) c.724C>A (p.Leu242Ile) c.877C>A (p.Leu293Ile) c.1057C>A (p.Leu353Ile) |