| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117541918T>C | CA164955465 | CFTR | c.1117-98T>C (p.=) c.1207-98T>C (p.=) c.874-98T>C (p.=) n.1027-98T>C (p.=) | dbSNP |
| 7 | g.117541921A>G | CA164955470 | CFTR | c.1117-95A>G (p.=) c.1207-95A>G (p.=) c.874-95A>G (p.=) n.1027-95A>G (p.=) | dbSNP gnomAD |
| 7 | g.117541922T>G | CA164955475 | CFTR | c.1117-94T>G (p.=) c.1207-94T>G (p.=) c.874-94T>G (p.=) n.1027-94T>G (p.=) | dbSNP |
| 7 | g.117541926A>G | CA832115688 | CFTR | c.1117-90A>G (p.=) c.1207-90A>G (p.=) c.874-90A>G (p.=) n.1027-90A>G (p.=) | |
| 7 | g.117541934C>T | CA164955476 | CFTR | c.1117-82C>T (p.=) c.1207-82C>T (p.=) c.874-82C>T (p.=) n.1027-82C>T (p.=) | dbSNP gnomAD |
| 7 | g.117541941_117541942del | CA832115692 | CFTR | c.1117-75_1117-74del (p.=) c.1207-75_1207-74del (p.=) c.874-75_874-74del (p.=) n.1027-75_1027-74del (p.=) | |
| 7 | g.117541940G>C | CA164955477 | CFTR | c.1117-76G>C (p.=) c.1207-76G>C (p.=) c.874-76G>C (p.=) n.1027-76G>C (p.=) | dbSNP |
| 7 | g.117541944A>G | CA832115696 | CFTR | c.1117-72A>G (p.=) c.1207-72A>G (p.=) c.874-72A>G (p.=) n.1027-72A>G (p.=) | |
| 7 | g.117541946A>G | CA164955485 | CFTR | c.1117-70A>G (p.=) c.1207-70A>G (p.=) c.874-70A>G (p.=) n.1027-70A>G (p.=) | dbSNP |
| 7 | g.117541948A>G | CA164955507 | CFTR | c.1117-68A>G (p.=) c.1207-68A>G (p.=) c.874-68A>G (p.=) n.1027-68A>G (p.=) | dbSNP |
| 7 | g.117541952G>A | CA164955513 | CFTR | c.1117-64G>A (p.=) c.1207-64G>A (p.=) c.874-64G>A (p.=) n.1027-64G>A (p.=) | dbSNP gnomAD |
| 7 | g.117541954T>C | CA164955525 | CFTR | c.1117-62T>C (p.=) c.1207-62T>C (p.=) c.874-62T>C (p.=) n.1027-62T>C (p.=) | dbSNP |
| 7 | g.117541963G>A | CA164955539 | CFTR | c.1117-53G>A (p.=) c.1207-53G>A (p.=) c.874-53G>A (p.=) n.1027-53G>A (p.=) | dbSNP |
| 7 | g.117541967T>C | CA164955545 | CFTR | c.1117-49T>C (p.=) c.1207-49T>C (p.=) c.874-49T>C (p.=) n.1027-49T>C (p.=) | dbSNP gnomAD |
| 7 | g.117541971G>A | CA832115702 | CFTR | c.1117-45G>A (p.=) c.1207-45G>A (p.=) c.874-45G>A (p.=) n.1027-45G>A (p.=) | |
| 7 | g.117541979G>T | CA651895500 | CFTR | c.1117-37G>T (p.=) c.1207-37G>T (p.=) c.874-37G>T (p.=) n.1027-37G>T (p.=) | COSMIC |
| 7 | g.117541983C>A | CA577215168 | CFTR | c.1117-33C>A (p.=) c.1207-33C>A (p.=) c.874-33C>A (p.=) n.1027-33C>A (p.=) | gnomAD |
| 7 | g.117541983C>T | CA4450901 | CFTR | c.1117-33C>T (p.=) c.1207-33C>T (p.=) c.874-33C>T (p.=) n.1027-33C>T (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117541986_117541987del | CA326408 | CFTR | c.1117-30_1117-29del (p.=) c.1207-30_1207-29del (p.=) c.874-30_874-29del (p.=) n.1027-30_1027-29del (p.=) | dbSNP |
| 7 | g.117541985A>G | CA658821277 | CFTR | c.1117-31A>G (p.=) c.1207-31A>G (p.=) c.874-31A>G (p.=) n.1027-31A>G (p.=) | ClinVar |
| 7 | g.117541988A>G | CA164955555 | CFTR | c.1117-28A>G (p.=) c.1207-28A>G (p.=) c.874-28A>G (p.=) n.1027-28A>G (p.=) | dbSNP |
| 7 | g.117541990_117541991del | CA326407 | CFTR | c.1117-26_1117-25del (p.=) c.1207-26_1207-25del (p.=) c.874-26_874-25del (p.=) n.1027-26_1027-25del (p.=) | ClinVar dbSNP gnomAD |
| 7 | g.117541990A>G | CA4450902 | CFTR | c.1117-26A>G (p.=) c.1207-26A>G (p.=) c.874-26A>G (p.=) n.1027-26A>G (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117541990A>T | CA577215169 | CFTR | c.1117-26A>T (p.=) c.1207-26A>T (p.=) c.874-26A>T (p.=) n.1027-26A>T (p.=) | gnomAD |
| 7 | g.117541994T>C | CA4450903 | CFTR | c.1117-22T>C (p.=) c.1207-22T>C (p.=) c.874-22T>C (p.=) n.1027-22T>C (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117541998G>T | CA577215173 | CFTR | c.1117-18G>T (p.=) c.1207-18G>T (p.=) c.874-18G>T (p.=) n.1027-18G>T (p.=) | gnomAD |
| 7 | g.117541999C>T | CA4450904 | CFTR | c.1117-17C>T (p.=) c.1207-17C>T (p.=) c.874-17C>T (p.=) n.1027-17C>T (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117542003C>G | CA4450905 | CFTR | c.1117-13C>G (p.=) c.1207-13C>G (p.=) c.874-13C>G (p.=) n.1027-13C>G (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117542004T>C | CA577215176 | CFTR | c.1117-12T>C (p.=) c.1207-12T>C (p.=) c.874-12T>C (p.=) n.1027-12T>C (p.=) | gnomAD |
| 7 | g.117542006T>C | CA164955569 | CFTR | c.1117-10T>C (p.=) c.1207-10T>C (p.=) c.874-10T>C (p.=) n.1027-10T>C (p.=) | dbSNP |
| 7 | g.117542007T>C | CA577215177 | CFTR | c.1117-9T>C (p.=) c.1207-9T>C (p.=) c.874-9T>C (p.=) n.1027-9T>C (p.=) | gnomAD |
| 7 | g.117542008A>G | CA164955582 | CFTR | c.1117-8A>G (p.=) c.1207-8A>G (p.=) c.874-8A>G (p.=) n.1027-8A>G (p.=) | dbSNP |
| 7 | g.117542008A>T | CA577215178 | CFTR | c.1117-8A>T (p.=) c.1207-8A>T (p.=) c.874-8A>T (p.=) n.1027-8A>T (p.=) | gnomAD |
| 7 | g.117542009T>C | CA4450906 | CFTR | c.1117-7T>C (p.=) c.1207-7T>C (p.=) c.874-7T>C (p.=) n.1027-7T>C (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117542011A>G | CA326409 | CFTR | c.1117-5A>G (p.=) c.1207-5A>G (p.=) c.874-5A>G (p.=) n.1027-5A>G (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117542013T>C | CA577215179 | CFTR | c.1117-3T>C (p.=) c.1207-3T>C (p.=) c.874-3T>C (p.=) n.1027-3T>C (p.=) | gnomAD |
| 7 | g.117542014A>C | CA368979754 | CFTR | c.1117-2A>C (p.=) c.1207-2A>C (p.=) c.874-2A>C (p.=) n.1027-2A>C (p.=) | |
| 7 | g.117542014A>G | CA368979756 | CFTR | c.1117-2A>G (p.=) c.1207-2A>G (p.=) c.874-2A>G (p.=) n.1027-2A>G (p.=) | ClinVar |
| 7 | g.117542014A>T | CA368979758 | CFTR | c.1117-2A>T (p.=) c.1207-2A>T (p.=) c.874-2A>T (p.=) n.1027-2A>T (p.=) | |
| 7 | g.117542015G>A | CA276114 | CFTR | c.1117-1G>A (p.=) c.1207-1G>A (p.=) c.874-1G>A (p.=) n.1027-1G>A (p.=) | ClinVar dbSNP |
| 7 | g.117542015G>C | CA368979762 | CFTR | c.1117-1G>C (p.=) c.1207-1G>C (p.=) c.874-1G>C (p.=) n.1027-1G>C (p.=) | |
| 7 | g.117542015G>T | CA368979764 | CFTR | c.1117-1G>T (p.=) c.1207-1G>T (p.=) c.874-1G>T (p.=) n.1027-1G>T (p.=) | COSMIC |
| 7 | g.117542016G>A | CA273032 | CFTR | c.1117G>A (p.Asp373Asn) c.1207G>A (p.Asp403Asn) c.874G>A (p.Asp292Asn) n.1027G>A (p.Asp343Asn) | ClinVar dbSNP ExAC gnomAD COSMIC |
| 7 | g.117542016G>C | CA368979765 | CFTR | c.1117G>C (p.Asp373His) c.1207G>C (p.Asp403His) c.874G>C (p.Asp292His) n.1027G>C (p.Asp343His) | |
| 7 | g.117542016G>T | CA368979766 | CFTR | c.1117G>T (p.Asp373Tyr) c.1207G>T (p.Asp403Tyr) c.874G>T (p.Asp292Tyr) n.1027G>T (p.Asp343Tyr) | gnomAD |