| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117591251_117595608delinsCTACATTTGTACTA | CA2580076490 | CFTR | c.1767-683_2619+550delinsCTACATTTGTACTA c.*1481-683_*2333+550delinsCTACATTTGTACTA c.1584-683_2436+550delinsCTACATTTGTACTA c.*67-683_*919+550delinsCTACATTTGTACTA c.*1591-683_*2443+550delinsCTACATTTGTACTA c.1341-683_2193+550delinsCTACATTTGTACTA c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA) c.1677-683_2529+550delinsCTACATTTGTACTA c.1857-683_2709+550delinsCTACATTTGTACTA c.1524-683_2376+550delinsCTACATTTGTACTA | ClinVar |
| 7 | g.117593484_117599275del | CA2580076573 | CFTR | c.2490+827_2620-3551del c.*2204+827_*2334-3551del c.2307+827_2437-3551del c.*790+827_*920-3551del c.*2314+827_*2444-3551del c.2064+827_2194-3551del c.81+827_211-3551del c.140+827_270-3551del c.1402-9342_1402-3551del (n.1402-9342_1402-3551del) c.2400+827_2530-3551del c.2580+827_2710-3551del c.2247+827_2377-3551del | ClinVar |
| 7 | g.117593794_117597288del | CA1139660206 | CFTR | c.2491-1136_2619+2230del c.*2205-1136_*2333+2230del c.2308-1136_2436+2230del c.*791-1136_*919+2230del c.*2315-1136_*2443+2230del c.2065-1136_2193+2230del c.82-1136_210+2230del c.141-1136_269+2230del c.1402-9032_1402-5538del (n.1402-9032_1402-5538del) c.2401-1136_2529+2230del c.2581-1136_2709+2230del c.2248-1136_2376+2230del | ClinVar |
| 7 | g.117594927_117595056delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG | CA1737397630 | CFTR | c.2491-3_2617delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*2205-3_*2331delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2308-3_2434delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*791-3_*917delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*2315-3_*2441delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2065-3_2191delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.82-3_208delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.141-3_267delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.1402-7899_1402-7770delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG (n.1402-7899_1402-7770delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG) c.2401-3_2527delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2581-3_2707delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2248-3_2374delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG | |
| 7 | g.117594931_117595059del | CA913190196 | CFTR | c.2492_2619+1del c.*2206_*2333+1del c.2309_2436+1del c.*792_*919+1del c.*2316_*2443+1del c.2066_2193+1del c.83_210+1del c.142_269+1del c.1402-7895_1402-7767del (n.1402-7895_1402-7767del) c.2402_2529+1del c.2582_2709+1del c.2249_2376+1del | ClinVar dbSNP |
| 7 | g.117594941dup | CA326834 | CFTR | c.2502dup (p.Asp835Ter) c.*2216dup (n.*2216dup) c.2319dup (p.Asp774Ter) c.*802dup (n.*802dup) c.*2326dup (n.*2326dup) c.2076dup (p.Asp693Ter) c.93dup (p.Asp32Ter) c.152dup c.1402-7885dup (n.1402-7885dup) c.2412dup (p.Asp805Ter) c.2592dup (p.Asp865Ter) c.2259dup (p.Asp754Ter) | ClinVar dbSNP gnomAD v2 |
| 7 | g.117594941del | CA326835 | CFTR | c.2502del (p.Phe834LeufsTer10) c.*2216del (n.*2216del) c.2319del (p.Phe773LeufsTer10) c.*802del (n.*802del) c.*2326del (n.*2326del) c.2076del (p.Phe692LeufsTer10) c.93del (p.Phe31LeufsTer10) c.152del c.1402-7885del (n.1402-7885del) c.2412del (p.Phe804LeufsTer10) c.2592del (p.Phe864LeufsTer10) c.2259del (p.Phe753LeufsTer10) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117594940T>A | CA368983811 | CFTR | c.2501T>A (p.Phe834Tyr) c.*2215T>A (n.*2215T>A) c.2318T>A (p.Phe773Tyr) c.*801T>A (n.*801T>A) c.*2325T>A (n.*2325T>A) c.2075T>A (p.Phe692Tyr) c.92T>A (p.Phe31Tyr) c.151T>A c.1402-7886T>A (n.1402-7886T>A) c.2411T>A (p.Phe804Tyr) c.2591T>A (p.Phe864Tyr) c.2258T>A (p.Phe753Tyr) | |
| 7 | g.117594940T>C | CA368983813 | CFTR | c.2501T>C (p.Phe834Ser) c.*2215T>C (n.*2215T>C) c.2318T>C (p.Phe773Ser) c.*801T>C (n.*801T>C) c.*2325T>C (n.*2325T>C) c.2075T>C (p.Phe692Ser) c.92T>C (p.Phe31Ser) c.151T>C c.1402-7886T>C (n.1402-7886T>C) c.2411T>C (p.Phe804Ser) c.2591T>C (p.Phe864Ser) c.2258T>C (p.Phe753Ser) | gnomAD v4 |
| 7 | g.117594940T>G | CA368983815 | CFTR | c.2501T>G (p.Phe834Cys) c.*2215T>G (n.*2215T>G) c.2318T>G (p.Phe773Cys) c.*801T>G (n.*801T>G) c.*2325T>G (n.*2325T>G) c.2075T>G (p.Phe692Cys) c.92T>G (p.Phe31Cys) c.151T>G c.1402-7886T>G (n.1402-7886T>G) c.2411T>G (p.Phe804Cys) c.2591T>G (p.Phe864Cys) c.2258T>G (p.Phe753Cys) | |
| 7 | g.117594941T>A | CA368983817 | CFTR | c.2502T>A (p.Phe834Leu) c.*2216T>A (n.*2216T>A) c.2319T>A (p.Phe773Leu) c.*802T>A (n.*802T>A) c.*2326T>A (n.*2326T>A) c.2076T>A (p.Phe692Leu) c.93T>A (p.Phe31Leu) c.152T>A c.1402-7885T>A (n.1402-7885T>A) c.2412T>A (p.Phe804Leu) c.2592T>A (p.Phe864Leu) c.2259T>A (p.Phe753Leu) | |
| 7 | g.117594941T>C | CA457227561 | CFTR | c.2502T>C (p.Phe834=) c.*2216T>C (n.*2216T>C) c.2319T>C (p.Phe773=) c.*802T>C (n.*802T>C) c.*2326T>C (n.*2326T>C) c.2076T>C (p.Phe692=) c.93T>C (p.Phe31=) c.152T>C c.1402-7885T>C (n.1402-7885T>C) c.2412T>C (p.Phe804=) c.2592T>C (p.Phe864=) c.2259T>C (p.Phe753=) | |
| 7 | g.117594941T>G | CA4451214 | CFTR | c.2502T>G (p.Phe834Leu) c.*2216T>G (n.*2216T>G) c.2319T>G (p.Phe773Leu) c.*802T>G (n.*802T>G) c.*2326T>G (n.*2326T>G) c.2076T>G (p.Phe692Leu) c.93T>G (p.Phe31Leu) c.152T>G c.1402-7885T>G (n.1402-7885T>G) c.2412T>G (p.Phe804Leu) c.2592T>G (p.Phe864Leu) c.2259T>G (p.Phe753Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117594941T= | CA1737397689 | CFTR | c.2502T= (p.Phe834=) c.*2216T= (n.*2216T=) c.2319T= (p.Phe773=) c.*802T= (n.*802T=) c.*2326T= (n.*2326T=) c.2076T= (p.Phe692=) c.93T= (p.Phe31=) c.152T= c.1402-7885T= (n.1402-7885T=) c.2412T= (p.Phe804=) c.2592T= (p.Phe864=) c.2259T= (p.Phe753=) | |
| 7 | g.117594942G>A | CA368983819 | CFTR | c.2503G>A (p.Asp835Asn) c.*2217G>A (n.*2217G>A) c.2320G>A (p.Asp774Asn) c.*803G>A (n.*803G>A) c.*2327G>A (n.*2327G>A) c.2077G>A (p.Asp693Asn) c.94G>A (p.Asp32Asn) c.153G>A c.1402-7884G>A (n.1402-7884G>A) c.2413G>A (p.Asp805Asn) c.2593G>A (p.Asp865Asn) c.2260G>A (p.Asp754Asn) | ClinVar dbSNP |
| 7 | g.117594942G>C | CA368983822 | CFTR | c.2503G>C (p.Asp835His) c.*2217G>C (n.*2217G>C) c.2320G>C (p.Asp774His) c.*803G>C (n.*803G>C) c.*2327G>C (n.*2327G>C) c.2077G>C (p.Asp693His) c.94G>C (p.Asp32His) c.153G>C c.1402-7884G>C (n.1402-7884G>C) c.2413G>C (p.Asp805His) c.2593G>C (p.Asp865His) c.2260G>C (p.Asp754His) | |
| 7 | g.117594942G>T | CA368983821 | CFTR | c.2503G>T (p.Asp835Tyr) c.*2217G>T (n.*2217G>T) c.2320G>T (p.Asp774Tyr) c.*803G>T (n.*803G>T) c.*2327G>T (n.*2327G>T) c.2077G>T (p.Asp693Tyr) c.94G>T (p.Asp32Tyr) c.153G>T c.1402-7884G>T (n.1402-7884G>T) c.2413G>T (p.Asp805Tyr) c.2593G>T (p.Asp865Tyr) c.2260G>T (p.Asp754Tyr) | ClinVar |
| 7 | g.117594943A>C | CA368983824 | CFTR | c.2504A>C (p.Asp835Ala) c.*2218A>C (n.*2218A>C) c.2321A>C (p.Asp774Ala) c.*804A>C (n.*804A>C) c.*2328A>C (n.*2328A>C) c.2078A>C (p.Asp693Ala) c.95A>C (p.Asp32Ala) c.154A>C c.1402-7883A>C (n.1402-7883A>C) c.2414A>C (p.Asp805Ala) c.2594A>C (p.Asp865Ala) c.2261A>C (p.Asp754Ala) | |
| 7 | g.117594943A>G | CA368983825 | CFTR | c.2504A>G (p.Asp835Gly) c.*2218A>G (n.*2218A>G) c.2321A>G (p.Asp774Gly) c.*804A>G (n.*804A>G) c.*2328A>G (n.*2328A>G) c.2078A>G (p.Asp693Gly) c.95A>G (p.Asp32Gly) c.154A>G c.1402-7883A>G (n.1402-7883A>G) c.2414A>G (p.Asp805Gly) c.2594A>G (p.Asp865Gly) c.2261A>G (p.Asp754Gly) | |
| 7 | g.117594943A>T | CA368983827 | CFTR | c.2504A>T (p.Asp835Val) c.*2218A>T (n.*2218A>T) c.2321A>T (p.Asp774Val) c.*804A>T (n.*804A>T) c.*2328A>T (n.*2328A>T) c.2078A>T (p.Asp693Val) c.95A>T (p.Asp32Val) c.154A>T c.1402-7883A>T (n.1402-7883A>T) c.2414A>T (p.Asp805Val) c.2594A>T (p.Asp865Val) c.2261A>T (p.Asp754Val) | |
| 7 | g.117594944T>A | CA368983830 | CFTR | c.2505T>A (p.Asp835Glu) c.*2219T>A (n.*2219T>A) c.2322T>A (p.Asp774Glu) c.*805T>A (n.*805T>A) c.*2329T>A (n.*2329T>A) c.2079T>A (p.Asp693Glu) c.96T>A (p.Asp32Glu) c.155T>A c.1402-7882T>A (n.1402-7882T>A) c.2415T>A (p.Asp805Glu) c.2595T>A (p.Asp865Glu) c.2262T>A (p.Asp754Glu) | |
| 7 | g.117594944T>C | CA4451215 | CFTR | c.2505T>C (p.Asp835=) c.*2219T>C (n.*2219T>C) c.2322T>C (p.Asp774=) c.*805T>C (n.*805T>C) c.*2329T>C (n.*2329T>C) c.2079T>C (p.Asp693=) c.96T>C (p.Asp32=) c.155T>C c.1402-7882T>C (n.1402-7882T>C) c.2415T>C (p.Asp805=) c.2595T>C (p.Asp865=) c.2262T>C (p.Asp754=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117594944T>G | CA368983833 | CFTR | c.2505T>G (p.Asp835Glu) c.*2219T>G (n.*2219T>G) c.2322T>G (p.Asp774Glu) c.*805T>G (n.*805T>G) c.*2329T>G (n.*2329T>G) c.2079T>G (p.Asp693Glu) c.96T>G (p.Asp32Glu) c.155T>G c.1402-7882T>G (n.1402-7882T>G) c.2415T>G (p.Asp805Glu) c.2595T>G (p.Asp865Glu) c.2262T>G (p.Asp754Glu) | |
| 7 | g.117594944T= | CA1737397693 | CFTR | c.2505T= (p.Asp835=) c.*2219T= (n.*2219T=) c.2322T= (p.Asp774=) c.*805T= (n.*805T=) c.*2329T= (n.*2329T=) c.2079T= (p.Asp693=) c.96T= (p.Asp32=) c.155T= c.1402-7882T= (n.1402-7882T=) c.2415T= (p.Asp805=) c.2595T= (p.Asp865=) c.2262T= (p.Asp754=) | |
| 7 | g.117594945G>A | CA368983834 | CFTR | c.2506G>A (p.Asp836Asn) c.*2220G>A (n.*2220G>A) c.2323G>A (p.Asp775Asn) c.*806G>A (n.*806G>A) c.*2330G>A (n.*2330G>A) c.2080G>A (p.Asp694Asn) c.97G>A (p.Asp33Asn) c.156G>A c.1402-7881G>A (n.1402-7881G>A) c.2416G>A (p.Asp806Asn) c.2596G>A (p.Asp866Asn) c.2263G>A (p.Asp755Asn) | gnomAD v4 |
| 7 | g.117594945G>C | CA368983836 | CFTR | c.2506G>C (p.Asp836His) c.*2220G>C (n.*2220G>C) c.2323G>C (p.Asp775His) c.*806G>C (n.*806G>C) c.*2330G>C (n.*2330G>C) c.2080G>C (p.Asp694His) c.97G>C (p.Asp33His) c.156G>C c.1402-7881G>C (n.1402-7881G>C) c.2416G>C (p.Asp806His) c.2596G>C (p.Asp866His) c.2263G>C (p.Asp755His) | |
| 7 | g.117594945G= | CA1737397698 | CFTR | c.2506G= (p.Asp836=) c.*2220G= (n.*2220G=) c.2323G= (p.Asp775=) c.*806G= (n.*806G=) c.*2330G= (n.*2330G=) c.2080G= (p.Asp694=) c.97G= (p.Asp33=) c.156G= c.1402-7881G= (n.1402-7881G=) c.2416G= (p.Asp806=) c.2596G= (p.Asp866=) c.2263G= (p.Asp755=) | |
| 7 | g.117594945G>T | CA326836 | CFTR | c.2506G>T (p.Asp836Tyr) c.*2220G>T (n.*2220G>T) c.2323G>T (p.Asp775Tyr) c.*806G>T (n.*806G>T) c.*2330G>T (n.*2330G>T) c.2080G>T (p.Asp694Tyr) c.97G>T (p.Asp33Tyr) c.156G>T c.1402-7881G>T (n.1402-7881G>T) c.2416G>T (p.Asp806Tyr) c.2596G>T (p.Asp866Tyr) c.2263G>T (p.Asp755Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117594946A>C | CA368983838 | CFTR | c.2507A>C (p.Asp836Ala) c.*2221A>C (n.*2221A>C) c.2324A>C (p.Asp775Ala) c.*807A>C (n.*807A>C) c.*2331A>C (n.*2331A>C) c.2081A>C (p.Asp694Ala) c.98A>C (p.Asp33Ala) c.157A>C c.1402-7880A>C (n.1402-7880A>C) c.2417A>C (p.Asp806Ala) c.2597A>C (p.Asp866Ala) c.2264A>C (p.Asp755Ala) | |
| 7 | g.117594946A>G | CA368983840 | CFTR | c.2507A>G (p.Asp836Gly) c.*2221A>G (n.*2221A>G) c.2324A>G (p.Asp775Gly) c.*807A>G (n.*807A>G) c.*2331A>G (n.*2331A>G) c.2081A>G (p.Asp694Gly) c.98A>G (p.Asp33Gly) c.157A>G c.1402-7880A>G (n.1402-7880A>G) c.2417A>G (p.Asp806Gly) c.2597A>G (p.Asp866Gly) c.2264A>G (p.Asp755Gly) | |
| 7 | g.117594946A>T | CA368983841 | CFTR | c.2507A>T (p.Asp836Val) c.*2221A>T (n.*2221A>T) c.2324A>T (p.Asp775Val) c.*807A>T (n.*807A>T) c.*2331A>T (n.*2331A>T) c.2081A>T (p.Asp694Val) c.98A>T (p.Asp33Val) c.157A>T c.1402-7880A>T (n.1402-7880A>T) c.2417A>T (p.Asp806Val) c.2597A>T (p.Asp866Val) c.2264A>T (p.Asp755Val) | |
| 7 | g.117594946_117594947delinsAT | CA1737397704 | CFTR | c.2507_2508delinsAT (p.Asp836=) c.*2221_*2222delinsAT (n.*2221_*2222delinsAT) c.2324_2325delinsAT (p.Asp775=) c.*807_*808delinsAT (n.*807_*808delinsAT) c.*2331_*2332delinsAT (n.*2331_*2332delinsAT) c.2081_2082delinsAT (p.Asp694=) c.98_99delinsAT (p.Asp33=) c.157_158delinsAT c.1402-7880_1402-7879delinsAT (n.1402-7880_1402-7879delinsAT) c.2417_2418delinsAT (p.Asp806=) c.2597_2598delinsAT (p.Asp866=) c.2264_2265delinsAT (p.Asp755=) | |
| 7 | g.117594947del | CA326838 | CFTR | c.2508del (p.Asp836GlufsTer8) c.*2222del (n.*2222del) c.2325del (p.Asp775GlufsTer8) c.*808del (n.*808del) c.*2332del (n.*2332del) c.2082del (p.Asp694GlufsTer8) c.99del (p.Asp33GlufsTer8) c.158del c.1402-7879del (n.1402-7879del) c.2418del (p.Asp806GlufsTer8) c.2598del (p.Asp866GlufsTer8) c.2265del (p.Asp755GlufsTer8) | ClinVar dbSNP |
| 7 | g.117594947T>A | CA368983846 | CFTR | c.2508T>A (p.Asp836Glu) c.*2222T>A (n.*2222T>A) c.2325T>A (p.Asp775Glu) c.*808T>A (n.*808T>A) c.*2332T>A (n.*2332T>A) c.2082T>A (p.Asp694Glu) c.99T>A (p.Asp33Glu) c.158T>A c.1402-7879T>A (n.1402-7879T>A) c.2418T>A (p.Asp806Glu) c.2598T>A (p.Asp866Glu) c.2265T>A (p.Asp755Glu) | |
| 7 | g.117594947T>C | CA457227562 | CFTR | c.2508T>C (p.Asp836=) c.*2222T>C (n.*2222T>C) c.2325T>C (p.Asp775=) c.*808T>C (n.*808T>C) c.*2332T>C (n.*2332T>C) c.2082T>C (p.Asp694=) c.99T>C (p.Asp33=) c.158T>C c.1402-7879T>C (n.1402-7879T>C) c.2418T>C (p.Asp806=) c.2598T>C (p.Asp866=) c.2265T>C (p.Asp755=) | |
| 7 | g.117594947T>G | CA368983843 | CFTR | c.2508T>G (p.Asp836Glu) c.*2222T>G (n.*2222T>G) c.2325T>G (p.Asp775Glu) c.*808T>G (n.*808T>G) c.*2332T>G (n.*2332T>G) c.2082T>G (p.Asp694Glu) c.99T>G (p.Asp33Glu) c.158T>G c.1402-7879T>G (n.1402-7879T>G) c.2418T>G (p.Asp806Glu) c.2598T>G (p.Asp866Glu) c.2265T>G (p.Asp755Glu) | |
| 7 | g.117594948A>C | CA368983847 | CFTR | c.2509A>C (p.Met837Leu) c.*2223A>C (n.*2223A>C) c.2326A>C (p.Met776Leu) c.*809A>C (n.*809A>C) c.*2333A>C (n.*2333A>C) c.2083A>C (p.Met695Leu) c.100A>C (p.Met34Leu) c.159A>C c.1402-7878A>C (n.1402-7878A>C) c.2419A>C (p.Met807Leu) c.2599A>C (p.Met867Leu) c.2266A>C (p.Met756Leu) | |
| 7 | g.117594948A>G | CA368983849 | CFTR | c.2509A>G (p.Met837Val) c.*2223A>G (n.*2223A>G) c.2326A>G (p.Met776Val) c.*809A>G (n.*809A>G) c.*2333A>G (n.*2333A>G) c.2083A>G (p.Met695Val) c.100A>G (p.Met34Val) c.159A>G c.1402-7878A>G (n.1402-7878A>G) c.2419A>G (p.Met807Val) c.2599A>G (p.Met867Val) c.2266A>G (p.Met756Val) | |
| 7 | g.117594948A>T | CA368983850 | CFTR | c.2509A>T (p.Met837Leu) c.*2223A>T (n.*2223A>T) c.2326A>T (p.Met776Leu) c.*809A>T (n.*809A>T) c.*2333A>T (n.*2333A>T) c.2083A>T (p.Met695Leu) c.100A>T (p.Met34Leu) c.159A>T c.1402-7878A>T (n.1402-7878A>T) c.2419A>T (p.Met807Leu) c.2599A>T (p.Met867Leu) c.2266A>T (p.Met756Leu) | |
| 7 | g.117594949T>A | CA368983852 | CFTR | c.2510T>A (p.Met837Lys) c.*2224T>A (n.*2224T>A) c.2327T>A (p.Met776Lys) c.*810T>A (n.*810T>A) c.*2334T>A (n.*2334T>A) c.2084T>A (p.Met695Lys) c.101T>A (p.Met34Lys) c.160T>A c.1402-7877T>A (n.1402-7877T>A) c.2420T>A (p.Met807Lys) c.2600T>A (p.Met867Lys) c.2267T>A (p.Met756Lys) | |
| 7 | g.117594949T>C | CA4451216 | CFTR | c.2510T>C (p.Met837Thr) c.*2224T>C (n.*2224T>C) c.2327T>C (p.Met776Thr) c.*810T>C (n.*810T>C) c.*2334T>C (n.*2334T>C) c.2084T>C (p.Met695Thr) c.101T>C (p.Met34Thr) c.160T>C c.1402-7877T>C (n.1402-7877T>C) c.2420T>C (p.Met807Thr) c.2600T>C (p.Met867Thr) c.2267T>C (p.Met756Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117594949T>G | CA368983853 | CFTR | c.2510T>G (p.Met837Arg) c.*2224T>G (n.*2224T>G) c.2327T>G (p.Met776Arg) c.*810T>G (n.*810T>G) c.*2334T>G (n.*2334T>G) c.2084T>G (p.Met695Arg) c.101T>G (p.Met34Arg) c.160T>G c.1402-7877T>G (n.1402-7877T>G) c.2420T>G (p.Met807Arg) c.2600T>G (p.Met867Arg) c.2267T>G (p.Met756Arg) | |
| 7 | g.117594949T= | CA1737397710 | CFTR | c.2510T= (p.Met837=) c.*2224T= (n.*2224T=) c.2327T= (p.Met776=) c.*810T= (n.*810T=) c.*2334T= (n.*2334T=) c.2084T= (p.Met695=) c.101T= (p.Met34=) c.160T= c.1402-7877T= (n.1402-7877T=) c.2420T= (p.Met807=) c.2600T= (p.Met867=) c.2267T= (p.Met756=) | |
| 7 | g.117594950G>A | CA164949878 | CFTR | c.2511G>A (p.Met837Ile) c.*2225G>A (n.*2225G>A) c.2328G>A (p.Met776Ile) c.*811G>A (n.*811G>A) c.*2335G>A (n.*2335G>A) c.2085G>A (p.Met695Ile) c.102G>A (p.Met34Ile) c.161G>A c.1402-7876G>A (n.1402-7876G>A) c.2421G>A (p.Met807Ile) c.2601G>A (p.Met867Ile) c.2268G>A (p.Met756Ile) | dbSNP |
| 7 | g.117594950G>C | CA368983855 | CFTR | c.2511G>C (p.Met837Ile) c.*2225G>C (n.*2225G>C) c.2328G>C (p.Met776Ile) c.*811G>C (n.*811G>C) c.*2335G>C (n.*2335G>C) c.2085G>C (p.Met695Ile) c.102G>C (p.Met34Ile) c.161G>C c.1402-7876G>C (n.1402-7876G>C) c.2421G>C (p.Met807Ile) c.2601G>C (p.Met867Ile) c.2268G>C (p.Met756Ile) | |
| 7 | g.117594950G= | CA1737397714 | CFTR | c.2511G= (p.Met837=) c.*2225G= (n.*2225G=) c.2328G= (p.Met776=) c.*811G= (n.*811G=) c.*2335G= (n.*2335G=) c.2085G= (p.Met695=) c.102G= (p.Met34=) c.161G= c.1402-7876G= (n.1402-7876G=) c.2421G= (p.Met807=) c.2601G= (p.Met867=) c.2268G= (p.Met756=) | |
| 7 | g.117594950G>T | CA368983856 | CFTR | c.2511G>T (p.Met837Ile) c.*2225G>T (n.*2225G>T) c.2328G>T (p.Met776Ile) c.*811G>T (n.*811G>T) c.*2335G>T (n.*2335G>T) c.2085G>T (p.Met695Ile) c.102G>T (p.Met34Ile) c.161G>T c.1402-7876G>T (n.1402-7876G>T) c.2421G>T (p.Met807Ile) c.2601G>T (p.Met867Ile) c.2268G>T (p.Met756Ile) | |
| 7 | g.117594951G>A | CA368983857 | CFTR | c.2512G>A (p.Glu838Lys) c.*2226G>A (n.*2226G>A) c.2329G>A (p.Glu777Lys) c.*812G>A (n.*812G>A) c.*2336G>A (n.*2336G>A) c.2086G>A (p.Glu696Lys) c.103G>A (p.Glu35Lys) c.162G>A c.1402-7875G>A (n.1402-7875G>A) c.2422G>A (p.Glu808Lys) c.2602G>A (p.Glu868Lys) c.2269G>A (p.Glu757Lys) | dbSNP |
| 7 | g.117594951G>C | CA368983858 | CFTR | c.2512G>C (p.Glu838Gln) c.*2226G>C (n.*2226G>C) c.2329G>C (p.Glu777Gln) c.*812G>C (n.*812G>C) c.*2336G>C (n.*2336G>C) c.2086G>C (p.Glu696Gln) c.103G>C (p.Glu35Gln) c.162G>C c.1402-7875G>C (n.1402-7875G>C) c.2422G>C (p.Glu808Gln) c.2602G>C (p.Glu868Gln) c.2269G>C (p.Glu757Gln) | |
| 7 | g.117594951G= | CA1737397719 | CFTR | c.2512G= (p.Glu838=) c.*2226G= (n.*2226G=) c.2329G= (p.Glu777=) c.*812G= (n.*812G=) c.*2336G= (n.*2336G=) c.2086G= (p.Glu696=) c.103G= (p.Glu35=) c.162G= c.1402-7875G= (n.1402-7875G=) c.2422G= (p.Glu808=) c.2602G= (p.Glu868=) c.2269G= (p.Glu757=) |