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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117602152_117612006del | CA325806 | CFTR | c.2620-674_3367+198del c.*2334-674_*3081+198del c.2437-674_3184+198del c.*920-674_*1667+198del c.*2444-674_*3191+198del c.2194-674_2941+198del c.211-674_958+198del c.270-674_1017+198del c.1402-674_2149+198del c.2530-674_3277+198del c.2710-674_3457+198del c.2377-674_3124+198del | |
| 7 | g.117602152_117612040del | CA2499218685 | CFTR | c.2620-674_3367+232del c.*2334-674_*3081+232del c.2437-674_3184+232del c.*920-674_*1667+232del c.*2444-674_*3191+232del c.2194-674_2941+232del c.211-674_958+232del c.270-674_1017+232del c.1402-674_2149+232del c.2530-674_3277+232del c.2710-674_3457+232del c.2377-674_3124+232del | ClinVar |
| 7 | g.117604867_117612068del | CA913190213 | CFTR | c.2908+1085_3367+260del c.*2622+1085_*3081+260del c.2725+1085_3184+260del c.*1208+1085_*1667+260del c.*2732+1085_*3191+260del c.2482+1085_2941+260del c.499+1085_958+260del c.558+1085_1017+260del c.1690+1085_2149+260del c.2818+1085_3277+260del c.2998+1085_3457+260del c.2665+1085_3124+260del | ClinVar |
| 7 | g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | CA2580076402 | CFTR | c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*2623-636_*3081+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2726-636_3184+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*1209-636_*1667+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*2733-636_*3191+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2483-636_2941+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.500-636_958+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.559-636_1017+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.1691-636_2149+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2819-636_3277+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2999-636_3457+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2666-636_3124+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | ClinVar |
| 7 | g.117606676_117611810del | CA913190200 | CFTR | c.2911_3367+2del c.*2625_*3081+2del c.2728_3184+2del c.*1211_*1667+2del c.*2735_*3191+2del c.2485_2941+2del c.502_958+2del c.561_1017+2del c.1693_2149+2del c.2821_3277+2del c.3001_3457+2del c.2668_3124+2del | ClinVar |
| 7 | g.117606678_117606715del | CA913111895 | CFTR | c.2913_2950del (p.Ile972Ter) c.*2627_*2664del (n.*2627_*2664del) c.2730_2767del (p.Ile911Ter) c.*1213_*1250del (n.*1213_*1250del) c.*2737_*2774del (n.*2737_*2774del) c.2487_2524del (p.Ile830Ter) c.504_541del (p.Ile169Ter) c.563_600del c.1695_1732del (p.Ile566Ter) c.2823_2860del (p.Ile942Ter) c.3003_3040del (p.Ile1002Ter) c.2670_2707del (p.Ile891Ter) | |
| 7 | g.117606676_117606713delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT | CA1737379438 | CFTR | c.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly971=) c.*2625_*2662delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (n.*2625_*2662delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT) c.2728_2765delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly910=) c.*1211_*1248delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (n.*1211_*1248delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT) c.*2735_*2772delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (n.*2735_*2772delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT) c.2485_2522delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly829=) c.502_539delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly168=) c.561_598delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT c.1693_1730delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly565=) c.2821_2858delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly941=) c.3001_3038delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly1001=) c.2668_2705delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly890=) | |
| 7 | g.117606681_117606717del | CA658822506 | CFTR | c.2916_2952del (p.Ile972MetfsTer16) c.*2630_*2666del (n.*2630_*2666del) c.2733_2769del (p.Ile911MetfsTer16) c.*1216_*1252del (n.*1216_*1252del) c.*2740_*2776del (n.*2740_*2776del) c.2490_2526del (p.Ile830MetfsTer16) c.507_543del (p.Ile169MetfsTer16) c.566_602del c.1698_1734del (p.Ile566MetfsTer16) c.2826_2862del (p.Ile942MetfsTer16) c.3006_3042del (p.Ile1002MetfsTer16) c.2673_2709del (p.Ile891MetfsTer16) | ClinVar dbSNP |
| 7 | g.117606697A= | CA1737379535 | CFTR | c.2932A= (p.Lys978=) c.*2646A= (n.*2646A=) c.2749A= (p.Lys917=) c.*1232A= (n.*1232A=) c.*2756A= (n.*2756A=) c.2506A= (p.Lys836=) c.523A= (p.Lys175=) c.582A= c.1714A= (p.Lys572=) c.2842A= (p.Lys948=) c.3022A= (p.Lys1008=) c.2689A= (p.Lys897=) | |
| 7 | g.117606697A>C | CA368989018 | CFTR | c.2932A>C (p.Lys978Gln) c.*2646A>C (n.*2646A>C) c.2749A>C (p.Lys917Gln) c.*1232A>C (n.*1232A>C) c.*2756A>C (n.*2756A>C) c.2506A>C (p.Lys836Gln) c.523A>C (p.Lys175Gln) c.582A>C c.1714A>C (p.Lys572Gln) c.2842A>C (p.Lys948Gln) c.3022A>C (p.Lys1008Gln) c.2689A>C (p.Lys897Gln) | |
| 7 | g.117606697A>G | CA368989020 | CFTR | c.2932A>G (p.Lys978Glu) c.*2646A>G (n.*2646A>G) c.2749A>G (p.Lys917Glu) c.*1232A>G (n.*1232A>G) c.*2756A>G (n.*2756A>G) c.2506A>G (p.Lys836Glu) c.523A>G (p.Lys175Glu) c.582A>G c.1714A>G (p.Lys572Glu) c.2842A>G (p.Lys948Glu) c.3022A>G (p.Lys1008Glu) c.2689A>G (p.Lys897Glu) | |
| 7 | g.117606697A>T | CA325702 | CFTR | c.2932A>T (p.Lys978Ter) c.*2646A>T (n.*2646A>T) c.2749A>T (p.Lys917Ter) c.*1232A>T (n.*1232A>T) c.*2756A>T (n.*2756A>T) c.2506A>T (p.Lys836Ter) c.523A>T (p.Lys175Ter) c.582A>T c.1714A>T (p.Lys572Ter) c.2842A>T (p.Lys948Ter) c.3022A>T (p.Lys1008Ter) c.2689A>T (p.Lys897Ter) | ClinVar dbSNP |
| 7 | g.117606698_117606699del | CA2695208424 | CFTR | c.2933_2934del (p.Lys978ArgfsTer7) c.*2647_*2648del (n.*2647_*2648del) c.2750_2751del (p.Lys917ArgfsTer7) c.*1233_*1234del (n.*1233_*1234del) c.*2757_*2758del (n.*2757_*2758del) c.2507_2508del (p.Lys836ArgfsTer7) c.524_525del (p.Lys175ArgfsTer7) c.583_584del c.1715_1716del (p.Lys572ArgfsTer7) c.2843_2844del (p.Lys948ArgfsTer7) c.3023_3024del (p.Lys1008ArgfsTer7) c.2690_2691del (p.Lys897ArgfsTer7) | |
| 7 | g.117606698A= | CA1737379542 | CFTR | c.2933A= (p.Lys978=) c.*2647A= (n.*2647A=) c.2750A= (p.Lys917=) c.*1233A= (n.*1233A=) c.*2757A= (n.*2757A=) c.2507A= (p.Lys836=) c.524A= (p.Lys175=) c.583A= c.1715A= (p.Lys572=) c.2843A= (p.Lys948=) c.3023A= (p.Lys1008=) c.2690A= (p.Lys897=) | |
| 7 | g.117606698A>C | CA368989024 | CFTR | c.2933A>C (p.Lys978Thr) c.*2647A>C (n.*2647A>C) c.2750A>C (p.Lys917Thr) c.*1233A>C (n.*1233A>C) c.*2757A>C (n.*2757A>C) c.2507A>C (p.Lys836Thr) c.524A>C (p.Lys175Thr) c.583A>C c.1715A>C (p.Lys572Thr) c.2843A>C (p.Lys948Thr) c.3023A>C (p.Lys1008Thr) c.2690A>C (p.Lys897Thr) | |
| 7 | g.117606698A>G | CA164962410 | CFTR | c.2933A>G (p.Lys978Arg) c.*2647A>G (n.*2647A>G) c.2750A>G (p.Lys917Arg) c.*1233A>G (n.*1233A>G) c.*2757A>G (n.*2757A>G) c.2507A>G (p.Lys836Arg) c.524A>G (p.Lys175Arg) c.583A>G c.1715A>G (p.Lys572Arg) c.2843A>G (p.Lys948Arg) c.3023A>G (p.Lys1008Arg) c.2690A>G (p.Lys897Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117606698A>T | CA368989026 | CFTR | c.2933A>T (p.Lys978Ile) c.*2647A>T (n.*2647A>T) c.2750A>T (p.Lys917Ile) c.*1233A>T (n.*1233A>T) c.*2757A>T (n.*2757A>T) c.2507A>T (p.Lys836Ile) c.524A>T (p.Lys175Ile) c.583A>T c.1715A>T (p.Lys572Ile) c.2843A>T (p.Lys948Ile) c.3023A>T (p.Lys1008Ile) c.2690A>T (p.Lys897Ile) | |
| 7 | g.117606699A>C | CA368989029 | CFTR | c.2934A>C (p.Lys978Asn) c.*2648A>C (n.*2648A>C) c.2751A>C (p.Lys917Asn) c.*1234A>C (n.*1234A>C) c.*2758A>C (n.*2758A>C) c.2508A>C (p.Lys836Asn) c.525A>C (p.Lys175Asn) c.584A>C c.1716A>C (p.Lys572Asn) c.2844A>C (p.Lys948Asn) c.3024A>C (p.Lys1008Asn) c.2691A>C (p.Lys897Asn) | |
| 7 | g.117606699A>G | CA457228807 | CFTR | c.2934A>G (p.Lys978=) c.*2648A>G (n.*2648A>G) c.2751A>G (p.Lys917=) c.*1234A>G (n.*1234A>G) c.*2758A>G (n.*2758A>G) c.2508A>G (p.Lys836=) c.525A>G (p.Lys175=) c.584A>G c.1716A>G (p.Lys572=) c.2844A>G (p.Lys948=) c.3024A>G (p.Lys1008=) c.2691A>G (p.Lys897=) | ClinVar dbSNP |
| 7 | g.117606699A>T | CA368989030 | CFTR | c.2934A>T (p.Lys978Asn) c.*2648A>T (n.*2648A>T) c.2751A>T (p.Lys917Asn) c.*1234A>T (n.*1234A>T) c.*2758A>T (n.*2758A>T) c.2508A>T (p.Lys836Asn) c.525A>T (p.Lys175Asn) c.584A>T c.1716A>T (p.Lys572Asn) c.2844A>T (p.Lys948Asn) c.3024A>T (p.Lys1008Asn) c.2691A>T (p.Lys897Asn) | |
| 7 | g.117606700G>A | CA368989032 | CFTR | c.2935G>A (p.Asp979Asn) c.*2649G>A (n.*2649G>A) c.2752G>A (p.Asp918Asn) c.*1235G>A (n.*1235G>A) c.*2759G>A (n.*2759G>A) c.2509G>A (p.Asp837Asn) c.526G>A (p.Asp176Asn) c.585G>A c.1717G>A (p.Asp573Asn) c.2845G>A (p.Asp949Asn) c.3025G>A (p.Asp1009Asn) c.2692G>A (p.Asp898Asn) | COSMIC |
| 7 | g.117606700G>C | CA368989034 | CFTR | c.2935G>C (p.Asp979His) c.*2649G>C (n.*2649G>C) c.2752G>C (p.Asp918His) c.*1235G>C (n.*1235G>C) c.*2759G>C (n.*2759G>C) c.2509G>C (p.Asp837His) c.526G>C (p.Asp176His) c.585G>C c.1717G>C (p.Asp573His) c.2845G>C (p.Asp949His) c.3025G>C (p.Asp1009His) c.2692G>C (p.Asp898His) | |
| 7 | g.117606700G>T | CA368989036 | CFTR | c.2935G>T (p.Asp979Tyr) c.*2649G>T (n.*2649G>T) c.2752G>T (p.Asp918Tyr) c.*1235G>T (n.*1235G>T) c.*2759G>T (n.*2759G>T) c.2509G>T (p.Asp837Tyr) c.526G>T (p.Asp176Tyr) c.585G>T c.1717G>T (p.Asp573Tyr) c.2845G>T (p.Asp949Tyr) c.3025G>T (p.Asp1009Tyr) c.2692G>T (p.Asp898Tyr) | ClinVar |
| 7 | g.117606701A= | CA1737379555 | CFTR | c.2936A= (p.Asp979=) c.*2650A= (n.*2650A=) c.2753A= (p.Asp918=) c.*1236A= (n.*1236A=) c.*2760A= (n.*2760A=) c.2510A= (p.Asp837=) c.527A= (p.Asp176=) c.586A= c.1718A= (p.Asp573=) c.2846A= (p.Asp949=) c.3026A= (p.Asp1009=) c.2693A= (p.Asp898=) | |
| 7 | g.117606701A>C | CA326977 | CFTR | c.2936A>C (p.Asp979Ala) c.*2650A>C (n.*2650A>C) c.2753A>C (p.Asp918Ala) c.*1236A>C (n.*1236A>C) c.*2760A>C (n.*2760A>C) c.2510A>C (p.Asp837Ala) c.527A>C (p.Asp176Ala) c.586A>C c.1718A>C (p.Asp573Ala) c.2846A>C (p.Asp949Ala) c.3026A>C (p.Asp1009Ala) c.2693A>C (p.Asp898Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117606701A>G | CA368989039 | CFTR | c.2936A>G (p.Asp979Gly) c.*2650A>G (n.*2650A>G) c.2753A>G (p.Asp918Gly) c.*1236A>G (n.*1236A>G) c.*2760A>G (n.*2760A>G) c.2510A>G (p.Asp837Gly) c.527A>G (p.Asp176Gly) c.586A>G c.1718A>G (p.Asp573Gly) c.2846A>G (p.Asp949Gly) c.3026A>G (p.Asp1009Gly) c.2693A>G (p.Asp898Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117606701A>T | CA326979 | CFTR | c.2936A>T (p.Asp979Val) c.*2650A>T (n.*2650A>T) c.2753A>T (p.Asp918Val) c.*1236A>T (n.*1236A>T) c.*2760A>T (n.*2760A>T) c.2510A>T (p.Asp837Val) c.527A>T (p.Asp176Val) c.586A>T c.1718A>T (p.Asp573Val) c.2846A>T (p.Asp949Val) c.3026A>T (p.Asp1009Val) c.2693A>T (p.Asp898Val) | ClinVar dbSNP |
| 7 | g.117606702T>A | CA368989044 | CFTR | c.2937T>A (p.Asp979Glu) c.*2651T>A (n.*2651T>A) c.2754T>A (p.Asp918Glu) c.*1237T>A (n.*1237T>A) c.*2761T>A (n.*2761T>A) c.2511T>A (p.Asp837Glu) c.528T>A (p.Asp176Glu) c.587T>A c.1719T>A (p.Asp573Glu) c.2847T>A (p.Asp949Glu) c.3027T>A (p.Asp1009Glu) c.2694T>A (p.Asp898Glu) | |
| 7 | g.117606702T>C | CA457228810 | CFTR | c.2937T>C (p.Asp979=) c.*2651T>C (n.*2651T>C) c.2754T>C (p.Asp918=) c.*1237T>C (n.*1237T>C) c.*2761T>C (n.*2761T>C) c.2511T>C (p.Asp837=) c.528T>C (p.Asp176=) c.587T>C c.1719T>C (p.Asp573=) c.2847T>C (p.Asp949=) c.3027T>C (p.Asp1009=) c.2694T>C (p.Asp898=) | ClinVar dbSNP |
| 7 | g.117606702T>G | CA368989045 | CFTR | c.2937T>G (p.Asp979Glu) c.*2651T>G (n.*2651T>G) c.2754T>G (p.Asp918Glu) c.*1237T>G (n.*1237T>G) c.*2761T>G (n.*2761T>G) c.2511T>G (p.Asp837Glu) c.528T>G (p.Asp176Glu) c.587T>G c.1719T>G (p.Asp573Glu) c.2847T>G (p.Asp949Glu) c.3027T>G (p.Asp1009Glu) c.2694T>G (p.Asp898Glu) | |
| 7 | g.117606702T= | CA1737379567 | CFTR | c.2937T= (p.Asp979=) c.*2651T= (n.*2651T=) c.2754T= (p.Asp918=) c.*1237T= (n.*1237T=) c.*2761T= (n.*2761T=) c.2511T= (p.Asp837=) c.528T= (p.Asp176=) c.587T= c.1719T= (p.Asp573=) c.2847T= (p.Asp949=) c.3027T= (p.Asp1009=) c.2694T= (p.Asp898=) | |
| 7 | g.117606703A= | CA1737379573 | CFTR | c.2938A= (p.Ile980=) c.*2652A= (n.*2652A=) c.2755A= (p.Ile919=) c.*1238A= (n.*1238A=) c.*2762A= (n.*2762A=) c.2512A= (p.Ile838=) c.529A= (p.Ile177=) c.588A= c.1720A= (p.Ile574=) c.2848A= (p.Ile950=) c.3028A= (p.Ile1010=) c.2695A= (p.Ile899=) | |
| 7 | g.117606703A>C | CA368989047 | CFTR | c.2938A>C (p.Ile980Leu) c.*2652A>C (n.*2652A>C) c.2755A>C (p.Ile919Leu) c.*1238A>C (n.*1238A>C) c.*2762A>C (n.*2762A>C) c.2512A>C (p.Ile838Leu) c.529A>C (p.Ile177Leu) c.588A>C c.1720A>C (p.Ile574Leu) c.2848A>C (p.Ile950Leu) c.3028A>C (p.Ile1010Leu) c.2695A>C (p.Ile899Leu) | |
| 7 | g.117606703A>G | CA368989049 | CFTR | c.2938A>G (p.Ile980Val) c.*2652A>G (n.*2652A>G) c.2755A>G (p.Ile919Val) c.*1238A>G (n.*1238A>G) c.*2762A>G (n.*2762A>G) c.2512A>G (p.Ile838Val) c.529A>G (p.Ile177Val) c.588A>G c.1720A>G (p.Ile574Val) c.2848A>G (p.Ile950Val) c.3028A>G (p.Ile1010Val) c.2695A>G (p.Ile899Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117606703A>T | CA368989051 | CFTR | c.2938A>T (p.Ile980Leu) c.*2652A>T (n.*2652A>T) c.2755A>T (p.Ile919Leu) c.*1238A>T (n.*1238A>T) c.*2762A>T (n.*2762A>T) c.2512A>T (p.Ile838Leu) c.529A>T (p.Ile177Leu) c.588A>T c.1720A>T (p.Ile574Leu) c.2848A>T (p.Ile950Leu) c.3028A>T (p.Ile1010Leu) c.2695A>T (p.Ile899Leu) | |
| 7 | g.117606704T>A | CA326981 | CFTR | c.2939T>A (p.Ile980Lys) c.*2653T>A (n.*2653T>A) c.2756T>A (p.Ile919Lys) c.*1239T>A (n.*1239T>A) c.*2763T>A (n.*2763T>A) c.2513T>A (p.Ile838Lys) c.530T>A (p.Ile177Lys) c.589T>A c.1721T>A (p.Ile574Lys) c.2849T>A (p.Ile950Lys) c.3029T>A (p.Ile1010Lys) c.2696T>A (p.Ile899Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117606704T>C | CA368989054 | CFTR | c.2939T>C (p.Ile980Thr) c.*2653T>C (n.*2653T>C) c.2756T>C (p.Ile919Thr) c.*1239T>C (n.*1239T>C) c.*2763T>C (n.*2763T>C) c.2513T>C (p.Ile838Thr) c.530T>C (p.Ile177Thr) c.589T>C c.1721T>C (p.Ile574Thr) c.2849T>C (p.Ile950Thr) c.3029T>C (p.Ile1010Thr) c.2696T>C (p.Ile899Thr) | dbSNP gnomAD v4 |
| 7 | g.117606704T>G | CA368989056 | CFTR | c.2939T>G (p.Ile980Arg) c.*2653T>G (n.*2653T>G) c.2756T>G (p.Ile919Arg) c.*1239T>G (n.*1239T>G) c.*2763T>G (n.*2763T>G) c.2513T>G (p.Ile838Arg) c.530T>G (p.Ile177Arg) c.589T>G c.1721T>G (p.Ile574Arg) c.2849T>G (p.Ile950Arg) c.3029T>G (p.Ile1010Arg) c.2696T>G (p.Ile899Arg) | |
| 7 | g.117606704T= | CA1737379580 | CFTR | c.2939T= (p.Ile980=) c.*2653T= (n.*2653T=) c.2756T= (p.Ile919=) c.*1239T= (n.*1239T=) c.*2763T= (n.*2763T=) c.2513T= (p.Ile838=) c.530T= (p.Ile177=) c.589T= c.1721T= (p.Ile574=) c.2849T= (p.Ile950=) c.3029T= (p.Ile1010=) c.2696T= (p.Ile899=) | |
| 7 | g.117606705A>C | CA457228813 | CFTR | c.2940A>C (p.Ile980=) c.*2654A>C (n.*2654A>C) c.2757A>C (p.Ile919=) c.*1240A>C (n.*1240A>C) c.*2764A>C (n.*2764A>C) c.2514A>C (p.Ile838=) c.531A>C (p.Ile177=) c.590A>C c.1722A>C (p.Ile574=) c.2850A>C (p.Ile950=) c.3030A>C (p.Ile1010=) c.2697A>C (p.Ile899=) | |
| 7 | g.117606705A>G | CA368989058 | CFTR | c.2940A>G (p.Ile980Met) c.*2654A>G (n.*2654A>G) c.2757A>G (p.Ile919Met) c.*1240A>G (n.*1240A>G) c.*2764A>G (n.*2764A>G) c.2514A>G (p.Ile838Met) c.531A>G (p.Ile177Met) c.590A>G c.1722A>G (p.Ile574Met) c.2850A>G (p.Ile950Met) c.3030A>G (p.Ile1010Met) c.2697A>G (p.Ile899Met) | gnomAD v4 |
| 7 | g.117606705A>T | CA457228812 | CFTR | c.2940A>T (p.Ile980=) c.*2654A>T (n.*2654A>T) c.2757A>T (p.Ile919=) c.*1240A>T (n.*1240A>T) c.*2764A>T (n.*2764A>T) c.2514A>T (p.Ile838=) c.531A>T (p.Ile177=) c.590A>T c.1722A>T (p.Ile574=) c.2850A>T (p.Ile950=) c.3030A>T (p.Ile1010=) c.2697A>T (p.Ile899=) | |
| 7 | g.117606706G>A | CA368989060 | CFTR | c.2941G>A (p.Ala981Thr) c.*2655G>A (n.*2655G>A) c.2758G>A (p.Ala920Thr) c.*1241G>A (n.*1241G>A) c.*2765G>A (n.*2765G>A) c.2515G>A (p.Ala839Thr) c.532G>A (p.Ala178Thr) c.591G>A c.1723G>A (p.Ala575Thr) c.2851G>A (p.Ala951Thr) c.3031G>A (p.Ala1011Thr) c.2698G>A (p.Ala900Thr) | dbSNP gnomAD v4 |
| 7 | g.117606706G>C | CA368989064 | CFTR | c.2941G>C (p.Ala981Pro) c.*2655G>C (n.*2655G>C) c.2758G>C (p.Ala920Pro) c.*1241G>C (n.*1241G>C) c.*2765G>C (n.*2765G>C) c.2515G>C (p.Ala839Pro) c.532G>C (p.Ala178Pro) c.591G>C c.1723G>C (p.Ala575Pro) c.2851G>C (p.Ala951Pro) c.3031G>C (p.Ala1011Pro) c.2698G>C (p.Ala900Pro) | |
| 7 | g.117606706G>T | CA368989066 | CFTR | c.2941G>T (p.Ala981Ser) c.*2655G>T (n.*2655G>T) c.2758G>T (p.Ala920Ser) c.*1241G>T (n.*1241G>T) c.*2765G>T (n.*2765G>T) c.2515G>T (p.Ala839Ser) c.532G>T (p.Ala178Ser) c.591G>T c.1723G>T (p.Ala575Ser) c.2851G>T (p.Ala951Ser) c.3031G>T (p.Ala1011Ser) c.2698G>T (p.Ala900Ser) | |
| 7 | g.117606707C>A | CA368989072 | CFTR | c.2942C>A (p.Ala981Glu) c.*2656C>A (n.*2656C>A) c.2759C>A (p.Ala920Glu) c.*1242C>A (n.*1242C>A) c.*2766C>A (n.*2766C>A) c.2516C>A (p.Ala839Glu) c.533C>A (p.Ala178Glu) c.592C>A c.1724C>A (p.Ala575Glu) c.2852C>A (p.Ala951Glu) c.3032C>A (p.Ala1011Glu) c.2699C>A (p.Ala900Glu) | ClinVar gnomAD v4 |
| 7 | g.117606707C>G | CA368989071 | CFTR | c.2942C>G (p.Ala981Gly) c.*2656C>G (n.*2656C>G) c.2759C>G (p.Ala920Gly) c.*1242C>G (n.*1242C>G) c.*2766C>G (n.*2766C>G) c.2516C>G (p.Ala839Gly) c.533C>G (p.Ala178Gly) c.592C>G c.1724C>G (p.Ala575Gly) c.2852C>G (p.Ala951Gly) c.3032C>G (p.Ala1011Gly) c.2699C>G (p.Ala900Gly) | |
| 7 | g.117606707C>T | CA368989069 | CFTR | c.2942C>T (p.Ala981Val) c.*2656C>T (n.*2656C>T) c.2759C>T (p.Ala920Val) c.*1242C>T (n.*1242C>T) c.*2766C>T (n.*2766C>T) c.2516C>T (p.Ala839Val) c.533C>T (p.Ala178Val) c.592C>T c.1724C>T (p.Ala575Val) c.2852C>T (p.Ala951Val) c.3032C>T (p.Ala1011Val) c.2699C>T (p.Ala900Val) | |
| 7 | g.117606708A= | CA1737379585 | CFTR | c.2943A= (p.Ala981=) c.*2657A= (n.*2657A=) c.2760A= (p.Ala920=) c.*1243A= (n.*1243A=) c.*2767A= (n.*2767A=) c.2517A= (p.Ala839=) c.534A= (p.Ala178=) c.593A= c.1725A= (p.Ala575=) c.2853A= (p.Ala951=) c.3033A= (p.Ala1011=) c.2700A= (p.Ala900=) | |
| 7 | g.117606708A>C | CA457228815 | CFTR | c.2943A>C (p.Ala981=) c.*2657A>C (n.*2657A>C) c.2760A>C (p.Ala920=) c.*1243A>C (n.*1243A>C) c.*2767A>C (n.*2767A>C) c.2517A>C (p.Ala839=) c.534A>C (p.Ala178=) c.593A>C c.1725A>C (p.Ala575=) c.2853A>C (p.Ala951=) c.3033A>C (p.Ala1011=) c.2700A>C (p.Ala900=) |