| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117602148_117612002del | CA325806 | |||
| 7 | g.117604867_117612068del | CA913190213 | ClinVar | ||
| 7 | g.117606672_117611806del | CA913190200 | ClinVar | ||
| 7 | g.117607922_117616820del | CA1139532136 | |||
| 7 | g.117609540_117612054del | CA325807 | ClinVar | ||
| 7 | g.117609611_117610615delinsGACAG | CA915945433 | ClinVar | ||
| 7 | g.117610471G>T | CA1106311374 | CFTR | c.2989-48G>T (p.=) n.2899-48G>T (p.=) c.3079-48G>T (p.=) c.2746-48G>T (p.=) | |
| 7 | g.117610472C>T | CA577680810 | CFTR | c.2989-47C>T (p.=) n.2899-47C>T (p.=) c.3079-47C>T (p.=) c.2746-47C>T (p.=) | gnomAD |
| 7 | g.117610474A>G | CA577680811 | CFTR | c.2989-45A>G (p.=) n.2899-45A>G (p.=) c.3079-45A>G (p.=) c.2746-45A>G (p.=) | gnomAD |
| 7 | g.117610475T>C | CA164964952 | CFTR | c.2989-44T>C (p.=) n.2899-44T>C (p.=) c.3079-44T>C (p.=) c.2746-44T>C (p.=) | dbSNP |
| 7 | g.117610476G>C | CA577680812 | CFTR | c.2989-43G>C (p.=) n.2899-43G>C (p.=) c.3079-43G>C (p.=) c.2746-43G>C (p.=) | gnomAD |
| 7 | g.117610482A>G | CA577680822 | CFTR | c.2989-37A>G (p.=) n.2899-37A>G (p.=) c.3079-37A>G (p.=) c.2746-37A>G (p.=) | gnomAD |
| 7 | g.117610484G>A | CA4451354 | CFTR | c.2989-35G>A (p.=) n.2899-35G>A (p.=) c.3079-35G>A (p.=) c.2746-35G>A (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117610489C>G | CA577680823 | CFTR | c.2989-30C>G (p.=) n.2899-30C>G (p.=) c.3079-30C>G (p.=) c.2746-30C>G (p.=) | gnomAD |
| 7 | g.117610489C>T | CA4451355 | CFTR | c.2989-30C>T (p.=) n.2899-30C>T (p.=) c.3079-30C>T (p.=) c.2746-30C>T (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117610491C>T | CA4451356 | CFTR | c.2989-28C>T (p.=) n.2899-28C>T (p.=) c.3079-28C>T (p.=) c.2746-28C>T (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117610493C>T | CA4451357 | CFTR | c.2989-26C>T (p.=) n.2899-26C>T (p.=) c.3079-26C>T (p.=) c.2746-26C>T (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117610494C>T | CA164964980 | CFTR | c.2989-25C>T (p.=) n.2899-25C>T (p.=) c.3079-25C>T (p.=) c.2746-25C>T (p.=) | dbSNP |
| 7 | g.117610498A>G | CA457229342 | CFTR | c.2989-21A>G (p.=) n.2899-21A>G (p.=) c.3079-21A>G (p.=) c.2746-21A>G (p.=) | |
| 7 | g.117610500G>T | CA651971877 | CFTR | c.2989-19G>T (p.=) n.2899-19G>T (p.=) c.3079-19G>T (p.=) c.2746-19G>T (p.=) | COSMIC |
| 7 | g.117610505C>A | CA577680824 | CFTR | c.2989-14C>A (p.=) n.2899-14C>A (p.=) c.3079-14C>A (p.=) c.2746-14C>A (p.=) | gnomAD |
| 7 | g.117610506T>A | CA4451358 | CFTR | c.2989-13T>A (p.=) n.2899-13T>A (p.=) c.3079-13T>A (p.=) c.2746-13T>A (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117610506T>C | CA4451359 | CFTR | c.2989-13T>C (p.=) n.2899-13T>C (p.=) c.3079-13T>C (p.=) c.2746-13T>C (p.=) | dbSNP ExAC gnomAD |
| 7 | g.117610514T>C | CA164964994 | CFTR | c.2989-5T>C (p.=) n.2899-5T>C (p.=) c.3079-5T>C (p.=) c.2746-5T>C (p.=) | dbSNP |
| 7 | g.117610515_117611804del | CA913189830 | ClinVar | ||
| 7 | g.117610516C>G | CA326998 | CFTR | c.2989-3C>G (p.=) n.2899-3C>G (p.=) c.3079-3C>G (p.=) c.2746-3C>G (p.=) | ClinVar dbSNP ExAC gnomAD |
| 7 | g.117610516C>T | CA577680825 | CFTR | c.2989-3C>T (p.=) n.2899-3C>T (p.=) c.3079-3C>T (p.=) c.2746-3C>T (p.=) | gnomAD |
| 7 | g.117610517A>C | CA368990217 | CFTR | c.2989-2A>C (p.=) n.2899-2A>C (p.=) c.3079-2A>C (p.=) c.2746-2A>C (p.=) | |
| 7 | g.117610517A>G | CA326997 | CFTR | c.2989-2A>G (p.=) n.2899-2A>G (p.=) c.3079-2A>G (p.=) c.2746-2A>G (p.=) | ClinVar dbSNP |
| 7 | g.117610517A>T | CA325704 | CFTR | c.2989-2A>T (p.=) n.2899-2A>T (p.=) c.3079-2A>T (p.=) c.2746-2A>T (p.=) | ClinVar dbSNP |
| 7 | g.117610517_117610667del | CA326999 | ClinVar dbSNP | ||
| 7 | g.117610518G>A | CA345319 | CFTR | c.2989-1G>A (p.=) n.2899-1G>A (p.=) c.3079-1G>A (p.=) c.2746-1G>A (p.=) | ClinVar dbSNP gnomAD |
| 7 | g.117610518G>C | CA368990230 | CFTR | c.2989-1G>C (p.=) n.2899-1G>C (p.=) c.3079-1G>C (p.=) c.2746-1G>C (p.=) | |
| 7 | g.117610518G>T | CA368990231 | CFTR | c.2989-1G>T (p.=) n.2899-1G>T (p.=) c.3079-1G>T (p.=) c.2746-1G>T (p.=) | |
| 7 | g.117610518_117610520del | CA645541519 | COSMIC | ||
| 7 | g.117610518_117614712del | CA913189831 | ClinVar | ||
| 7 | g.117610519T>A | CA368990234 | CFTR | c.2989T>A (p.Leu997Met) n.2899T>A (p.Leu967Met) c.3079T>A (p.Leu1027Met) c.2746T>A (p.Leu916Met) | |
| 7 | g.117610519T>C | CA457229343 | CFTR | c.2989T>C (p.Leu997=) n.2899T>C (p.Leu967=) c.3079T>C (p.Leu1027=) c.2746T>C (p.Leu916=) | |
| 7 | g.117610519T>G | CA368990236 | CFTR | c.2989T>G (p.Leu997Val) n.2899T>G (p.Leu967Val) c.3079T>G (p.Leu1027Val) c.2746T>G (p.Leu916Val) | |
| 7 | g.117610520T>A | CA368990247 | CFTR | c.2990T>A (p.Leu997Ter) n.2900T>A (p.Leu967Ter) c.3080T>A (p.Leu1027Ter) c.2747T>A (p.Leu916Ter) | |
| 7 | g.117610520T>C | CA368990244 | CFTR | c.2990T>C (p.Leu997Ser) n.2900T>C (p.Leu967Ser) c.3080T>C (p.Leu1027Ser) c.2747T>C (p.Leu916Ser) | |
| 7 | g.117610520T>G | CA368990238 | CFTR | c.2990T>G (p.Leu997Trp) n.2900T>G (p.Leu967Trp) c.3080T>G (p.Leu1027Trp) c.2747T>G (p.Leu916Trp) | |
| 7 | g.117610521G>A | CA457229344 | CFTR | c.2991G>A (p.Leu997=) n.2901G>A (p.Leu967=) c.3081G>A (p.Leu1027=) c.2748G>A (p.Leu916=) | |
| 7 | g.117610521G>C | CA090907 | CFTR | c.2991G>C (p.Leu997Phe) n.2901G>C (p.Leu967Phe) c.3081G>C (p.Leu1027Phe) c.2748G>C (p.Leu916Phe) | ClinVar dbSNP ExAC gnomAD |
| 7 | g.117610521G>T | CA368990251 | CFTR | c.2991G>T (p.Leu997Phe) n.2901G>T (p.Leu967Phe) c.3081G>T (p.Leu1027Phe) c.2748G>T (p.Leu916Phe) | |
| 7 | g.117610522T>A | CA368990254 | CFTR | c.2992T>A (p.Leu998Ile) n.2902T>A (p.Leu968Ile) c.3082T>A (p.Leu1028Ile) c.2749T>A (p.Leu917Ile) | |
| 7 | g.117610522T>C | CA457229345 | CFTR | c.2992T>C (p.Leu998=) n.2902T>C (p.Leu968=) c.3082T>C (p.Leu1028=) c.2749T>C (p.Leu917=) | |
| 7 | g.117610522T>G | CA368990258 | CFTR | c.2992T>G (p.Leu998Val) n.2902T>G (p.Leu968Val) c.3082T>G (p.Leu1028Val) c.2749T>G (p.Leu917Val) | |
| 7 | g.117610522del | CA16041135 | CFTR | c.2992del (p.Leu998TyrfsTer2) n.2902del (p.Leu968TyrfsTer2) c.3082del (p.Leu1028TyrfsTer2) c.2749del (p.Leu917TyrfsTer2) | ClinVar dbSNP |
| 7 | g.117610523T>A | CA368990269 | CFTR | c.2993T>A (p.Leu998Ter) n.2903T>A (p.Leu968Ter) c.3083T>A (p.Leu1028Ter) c.2750T>A (p.Leu917Ter) |