UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.117603623T>A | CA368986630 | CFTR | c.2749T>A (p.Tyr917Asn) c.*2463T>A (n.*2463T>A) c.2566T>A (p.Tyr856Asn) c.*1049T>A (n.*1049T>A) c.*2573T>A (n.*2573T>A) c.2323T>A (p.Tyr775Asn) c.340T>A (p.Tyr114Asn) c.399T>A c.1531T>A (p.Tyr511Asn) c.2659T>A (p.Tyr887Asn) c.2839T>A (p.Tyr947Asn) c.2506T>A (p.Tyr836Asn) | |
| 7 | g.117603623T>C | CA368986629 | CFTR | c.2749T>C (p.Tyr917His) c.*2463T>C (n.*2463T>C) c.2566T>C (p.Tyr856His) c.*1049T>C (n.*1049T>C) c.*2573T>C (n.*2573T>C) c.2323T>C (p.Tyr775His) c.340T>C (p.Tyr114His) c.399T>C c.1531T>C (p.Tyr511His) c.2659T>C (p.Tyr887His) c.2839T>C (p.Tyr947His) c.2506T>C (p.Tyr836His) | gnomAD v4 |
| 7 | g.117603623T>G | CA326909 | CFTR | c.2749T>G (p.Tyr917Asp) c.*2463T>G (n.*2463T>G) c.2566T>G (p.Tyr856Asp) c.*1049T>G (n.*1049T>G) c.*2573T>G (n.*2573T>G) c.2323T>G (p.Tyr775Asp) c.340T>G (p.Tyr114Asp) c.399T>G c.1531T>G (p.Tyr511Asp) c.2659T>G (p.Tyr887Asp) c.2839T>G (p.Tyr947Asp) c.2506T>G (p.Tyr836Asp) | dbSNP |
| 7 | g.117603623T= | CA1737374759 | CFTR | c.2749T= (p.Tyr917=) c.*2463T= (n.*2463T=) c.2566T= (p.Tyr856=) c.*1049T= (n.*1049T=) c.*2573T= (n.*2573T=) c.2323T= (p.Tyr775=) c.340T= (p.Tyr114=) c.399T= c.1531T= (p.Tyr511=) c.2659T= (p.Tyr887=) c.2839T= (p.Tyr947=) c.2506T= (p.Tyr836=) | |
| 7 | g.117603624A= | CA1737374762 | CFTR | c.2750A= (p.Tyr917=) c.*2464A= (n.*2464A=) c.2567A= (p.Tyr856=) c.*1050A= (n.*1050A=) c.*2574A= (n.*2574A=) c.2324A= (p.Tyr775=) c.341A= (p.Tyr114=) c.400A= c.1532A= (p.Tyr511=) c.2660A= (p.Tyr887=) c.2840A= (p.Tyr947=) c.2507A= (p.Tyr836=) | |
| 7 | g.117603624A>C | CA368986631 | CFTR | c.2750A>C (p.Tyr917Ser) c.*2464A>C (n.*2464A>C) c.2567A>C (p.Tyr856Ser) c.*1050A>C (n.*1050A>C) c.*2574A>C (n.*2574A>C) c.2324A>C (p.Tyr775Ser) c.341A>C (p.Tyr114Ser) c.400A>C c.1532A>C (p.Tyr511Ser) c.2660A>C (p.Tyr887Ser) c.2840A>C (p.Tyr947Ser) c.2507A>C (p.Tyr836Ser) | |
| 7 | g.117603624A>G | CA326911 | CFTR | c.2750A>G (p.Tyr917Cys) c.*2464A>G (n.*2464A>G) c.2567A>G (p.Tyr856Cys) c.*1050A>G (n.*1050A>G) c.*2574A>G (n.*2574A>G) c.2324A>G (p.Tyr775Cys) c.341A>G (p.Tyr114Cys) c.400A>G c.1532A>G (p.Tyr511Cys) c.2660A>G (p.Tyr887Cys) c.2840A>G (p.Tyr947Cys) c.2507A>G (p.Tyr836Cys) | ClinVar dbSNP |
| 7 | g.117603624A>T | CA368986633 | CFTR | c.2750A>T (p.Tyr917Phe) c.*2464A>T (n.*2464A>T) c.2567A>T (p.Tyr856Phe) c.*1050A>T (n.*1050A>T) c.*2574A>T (n.*2574A>T) c.2324A>T (p.Tyr775Phe) c.341A>T (p.Tyr114Phe) c.400A>T c.1532A>T (p.Tyr511Phe) c.2660A>T (p.Tyr887Phe) c.2840A>T (p.Tyr947Phe) c.2507A>T (p.Tyr836Phe) | |
| 7 | g.117603624_117603625insTTTTAGATATAGGAT | CA2562823202 | CFTR | c.2750_2751insTTTTAGATATAGGAT (p.Tyr917_Ile918insPheArgTyrArgIle) c.*2464_*2465insTTTTAGATATAGGAT (n.*2464_*2465insTTTTAGATATAGGAT) c.2567_2568insTTTTAGATATAGGAT (p.Tyr856_Ile857insPheArgTyrArgIle) c.*1050_*1051insTTTTAGATATAGGAT (n.*1050_*1051insTTTTAGATATAGGAT) c.*2574_*2575insTTTTAGATATAGGAT (n.*2574_*2575insTTTTAGATATAGGAT) c.2324_2325insTTTTAGATATAGGAT (p.Tyr775_Ile776insPheArgTyrArgIle) c.341_342insTTTTAGATATAGGAT (p.Tyr114_Ile115insPheArgTyrArgIle) c.400_401insTTTTAGATATAGGAT c.1532_1533insTTTTAGATATAGGAT (p.Tyr511_Ile512insPheArgTyrArgIle) c.2660_2661insTTTTAGATATAGGAT (p.Tyr887_Ile888insPheArgTyrArgIle) c.2840_2841insTTTTAGATATAGGAT (p.Tyr947_Ile948insPheArgTyrArgIle) c.2507_2508insTTTTAGATATAGGAT (p.Tyr836_Ile837insPheArgTyrArgIle) | |
| 7 | g.117603625C>A | CA368986636 | CFTR | c.2751C>A (p.Tyr917Ter) c.*2465C>A (n.*2465C>A) c.2568C>A (p.Tyr856Ter) c.*1051C>A (n.*1051C>A) c.*2575C>A (n.*2575C>A) c.2325C>A (p.Tyr775Ter) c.342C>A (p.Tyr114Ter) c.401C>A c.1533C>A (p.Tyr511Ter) c.2661C>A (p.Tyr887Ter) c.2841C>A (p.Tyr947Ter) c.2508C>A (p.Tyr836Ter) | |
| 7 | g.117603625C= | CA1737374767 | CFTR | c.2751C= (p.Tyr917=) c.*2465C= (n.*2465C=) c.2568C= (p.Tyr856=) c.*1051C= (n.*1051C=) c.*2575C= (n.*2575C=) c.2325C= (p.Tyr775=) c.342C= (p.Tyr114=) c.401C= c.1533C= (p.Tyr511=) c.2661C= (p.Tyr887=) c.2841C= (p.Tyr947=) c.2508C= (p.Tyr836=) | |
| 7 | g.117603625C>G | CA368986638 | CFTR | c.2751C>G (p.Tyr917Ter) c.*2465C>G (n.*2465C>G) c.2568C>G (p.Tyr856Ter) c.*1051C>G (n.*1051C>G) c.*2575C>G (n.*2575C>G) c.2325C>G (p.Tyr775Ter) c.342C>G (p.Tyr114Ter) c.401C>G c.1533C>G (p.Tyr511Ter) c.2661C>G (p.Tyr887Ter) c.2841C>G (p.Tyr947Ter) c.2508C>G (p.Tyr836Ter) | |
| 7 | g.117603625C>T | CA457227948 | CFTR | c.2751C>T (p.Tyr917=) c.*2465C>T (n.*2465C>T) c.2568C>T (p.Tyr856=) c.*1051C>T (n.*1051C>T) c.*2575C>T (n.*2575C>T) c.2325C>T (p.Tyr775=) c.342C>T (p.Tyr114=) c.401C>T c.1533C>T (p.Tyr511=) c.2661C>T (p.Tyr887=) c.2841C>T (p.Tyr947=) c.2508C>T (p.Tyr836=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603626A= | CA1737374783 | CFTR | c.2752A= (p.Ile918=) c.*2466A= (n.*2466A=) c.2569A= (p.Ile857=) c.*1052A= (n.*1052A=) c.*2576A= (n.*2576A=) c.2326A= (p.Ile776=) c.343A= (p.Ile115=) c.402A= c.1534A= (p.Ile512=) c.2662A= (p.Ile888=) c.2842A= (p.Ile948=) c.2509A= (p.Ile837=) | |
| 7 | g.117603626A>C | CA368986642 | CFTR | c.2752A>C (p.Ile918Leu) c.*2466A>C (n.*2466A>C) c.2569A>C (p.Ile857Leu) c.*1052A>C (n.*1052A>C) c.*2576A>C (n.*2576A>C) c.2326A>C (p.Ile776Leu) c.343A>C (p.Ile115Leu) c.402A>C c.1534A>C (p.Ile512Leu) c.2662A>C (p.Ile888Leu) c.2842A>C (p.Ile948Leu) c.2509A>C (p.Ile837Leu) | ClinVar |
| 7 | g.117603626A>G | CA368986644 | CFTR | c.2752A>G (p.Ile918Val) c.*2466A>G (n.*2466A>G) c.2569A>G (p.Ile857Val) c.*1052A>G (n.*1052A>G) c.*2576A>G (n.*2576A>G) c.2326A>G (p.Ile776Val) c.343A>G (p.Ile115Val) c.402A>G c.1534A>G (p.Ile512Val) c.2662A>G (p.Ile888Val) c.2842A>G (p.Ile948Val) c.2509A>G (p.Ile837Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603626A>T | CA368986646 | CFTR | c.2752A>T (p.Ile918Phe) c.*2466A>T (n.*2466A>T) c.2569A>T (p.Ile857Phe) c.*1052A>T (n.*1052A>T) c.*2576A>T (n.*2576A>T) c.2326A>T (p.Ile776Phe) c.343A>T (p.Ile115Phe) c.402A>T c.1534A>T (p.Ile512Phe) c.2662A>T (p.Ile888Phe) c.2842A>T (p.Ile948Phe) c.2509A>T (p.Ile837Phe) | ClinVar dbSNP |
| 7 | g.117603627T>A | CA368986649 | CFTR | c.2753T>A (p.Ile918Asn) c.*2467T>A (n.*2467T>A) c.2570T>A (p.Ile857Asn) c.*1053T>A (n.*1053T>A) c.*2577T>A (n.*2577T>A) c.2327T>A (p.Ile776Asn) c.344T>A (p.Ile115Asn) c.403T>A c.1535T>A (p.Ile512Asn) c.2663T>A (p.Ile888Asn) c.2843T>A (p.Ile948Asn) c.2510T>A (p.Ile837Asn) | |
| 7 | g.117603627T>C | CA368986653 | CFTR | c.2753T>C (p.Ile918Thr) c.*2467T>C (n.*2467T>C) c.2570T>C (p.Ile857Thr) c.*1053T>C (n.*1053T>C) c.*2577T>C (n.*2577T>C) c.2327T>C (p.Ile776Thr) c.344T>C (p.Ile115Thr) c.403T>C c.1535T>C (p.Ile512Thr) c.2663T>C (p.Ile888Thr) c.2843T>C (p.Ile948Thr) c.2510T>C (p.Ile837Thr) | gnomAD v4 |
| 7 | g.117603627T>G | CA368986651 | CFTR | c.2753T>G (p.Ile918Ser) c.*2467T>G (n.*2467T>G) c.2570T>G (p.Ile857Ser) c.*1053T>G (n.*1053T>G) c.*2577T>G (n.*2577T>G) c.2327T>G (p.Ile776Ser) c.344T>G (p.Ile115Ser) c.403T>G c.1535T>G (p.Ile512Ser) c.2663T>G (p.Ile888Ser) c.2843T>G (p.Ile948Ser) c.2510T>G (p.Ile837Ser) | |
| 7 | g.117603629del | CA2695199620 | CFTR | c.2755del (p.Tyr919ThrfsTer4) c.*2469del (n.*2469del) c.2572del (p.Tyr858ThrfsTer4) c.*1055del (n.*1055del) c.*2579del (n.*2579del) c.2329del (p.Tyr777ThrfsTer4) c.346del (p.Tyr116ThrfsTer4) c.405del c.1537del (p.Tyr513ThrfsTer4) c.2665del (p.Tyr889ThrfsTer4) c.2845del (p.Tyr949ThrfsTer4) c.2512del (p.Tyr838ThrfsTer4) | ClinVar |
| 7 | g.117603628T>A | CA457227949 | CFTR | c.2754T>A (p.Ile918=) c.*2468T>A (n.*2468T>A) c.2571T>A (p.Ile857=) c.*1054T>A (n.*1054T>A) c.*2578T>A (n.*2578T>A) c.2328T>A (p.Ile776=) c.345T>A (p.Ile115=) c.404T>A c.1536T>A (p.Ile512=) c.2664T>A (p.Ile888=) c.2844T>A (p.Ile948=) c.2511T>A (p.Ile837=) | |
| 7 | g.117603628T>C | CA457227950 | CFTR | c.2754T>C (p.Ile918=) c.*2468T>C (n.*2468T>C) c.2571T>C (p.Ile857=) c.*1054T>C (n.*1054T>C) c.*2578T>C (n.*2578T>C) c.2328T>C (p.Ile776=) c.345T>C (p.Ile115=) c.404T>C c.1536T>C (p.Ile512=) c.2664T>C (p.Ile888=) c.2844T>C (p.Ile948=) c.2511T>C (p.Ile837=) | |
| 7 | g.117603628T>G | CA326912 | CFTR | c.2754T>G (p.Ile918Met) c.*2468T>G (n.*2468T>G) c.2571T>G (p.Ile857Met) c.*1054T>G (n.*1054T>G) c.*2578T>G (n.*2578T>G) c.2328T>G (p.Ile776Met) c.345T>G (p.Ile115Met) c.404T>G c.1536T>G (p.Ile512Met) c.2664T>G (p.Ile888Met) c.2844T>G (p.Ile948Met) c.2511T>G (p.Ile837Met) | ClinVar dbSNP |
| 7 | g.117603628T= | CA1737374806 | CFTR | c.2754T= (p.Ile918=) c.*2468T= (n.*2468T=) c.2571T= (p.Ile857=) c.*1054T= (n.*1054T=) c.*2578T= (n.*2578T=) c.2328T= (p.Ile776=) c.345T= (p.Ile115=) c.404T= c.1536T= (p.Ile512=) c.2664T= (p.Ile888=) c.2844T= (p.Ile948=) c.2511T= (p.Ile837=) | |
| 7 | g.117603629T>A | CA164960117 | CFTR | c.2755T>A (p.Tyr919Asn) c.*2469T>A (n.*2469T>A) c.2572T>A (p.Tyr858Asn) c.*1055T>A (n.*1055T>A) c.*2579T>A (n.*2579T>A) c.2329T>A (p.Tyr777Asn) c.346T>A (p.Tyr116Asn) c.405T>A c.1537T>A (p.Tyr513Asn) c.2665T>A (p.Tyr889Asn) c.2845T>A (p.Tyr949Asn) c.2512T>A (p.Tyr838Asn) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603629T>C | CA368986659 | CFTR | c.2755T>C (p.Tyr919His) c.*2469T>C (n.*2469T>C) c.2572T>C (p.Tyr858His) c.*1055T>C (n.*1055T>C) c.*2579T>C (n.*2579T>C) c.2329T>C (p.Tyr777His) c.346T>C (p.Tyr116His) c.405T>C c.1537T>C (p.Tyr513His) c.2665T>C (p.Tyr889His) c.2845T>C (p.Tyr949His) c.2512T>C (p.Tyr838His) | |
| 7 | g.117603629T>G | CA368986661 | CFTR | c.2755T>G (p.Tyr919Asp) c.*2469T>G (n.*2469T>G) c.2572T>G (p.Tyr858Asp) c.*1055T>G (n.*1055T>G) c.*2579T>G (n.*2579T>G) c.2329T>G (p.Tyr777Asp) c.346T>G (p.Tyr116Asp) c.405T>G c.1537T>G (p.Tyr513Asp) c.2665T>G (p.Tyr889Asp) c.2845T>G (p.Tyr949Asp) c.2512T>G (p.Tyr838Asp) | |
| 7 | g.117603629T= | CA1737374811 | CFTR | c.2755T= (p.Tyr919=) c.*2469T= (n.*2469T=) c.2572T= (p.Tyr858=) c.*1055T= (n.*1055T=) c.*2579T= (n.*2579T=) c.2329T= (p.Tyr777=) c.346T= (p.Tyr116=) c.405T= c.1537T= (p.Tyr513=) c.2665T= (p.Tyr889=) c.2845T= (p.Tyr949=) c.2512T= (p.Tyr838=) | |
| 7 | g.117603630A= | CA1737374819 | CFTR | c.2756A= (p.Tyr919=) c.*2470A= (n.*2470A=) c.2573A= (p.Tyr858=) c.*1056A= (n.*1056A=) c.*2580A= (n.*2580A=) c.2330A= (p.Tyr777=) c.347A= (p.Tyr116=) c.406A= c.1538A= (p.Tyr513=) c.2666A= (p.Tyr889=) c.2846A= (p.Tyr949=) c.2513A= (p.Tyr838=) | |
| 7 | g.117603630A>C | CA368986664 | CFTR | c.2756A>C (p.Tyr919Ser) c.*2470A>C (n.*2470A>C) c.2573A>C (p.Tyr858Ser) c.*1056A>C (n.*1056A>C) c.*2580A>C (n.*2580A>C) c.2330A>C (p.Tyr777Ser) c.347A>C (p.Tyr116Ser) c.406A>C c.1538A>C (p.Tyr513Ser) c.2666A>C (p.Tyr889Ser) c.2846A>C (p.Tyr949Ser) c.2513A>C (p.Tyr838Ser) | |
| 7 | g.117603630A>G | CA326914 | CFTR | c.2756A>G (p.Tyr919Cys) c.*2470A>G (n.*2470A>G) c.2573A>G (p.Tyr858Cys) c.*1056A>G (n.*1056A>G) c.*2580A>G (n.*2580A>G) c.2330A>G (p.Tyr777Cys) c.347A>G (p.Tyr116Cys) c.406A>G c.1538A>G (p.Tyr513Cys) c.2666A>G (p.Tyr889Cys) c.2846A>G (p.Tyr949Cys) c.2513A>G (p.Tyr838Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603630A>T | CA368986666 | CFTR | c.2756A>T (p.Tyr919Phe) c.*2470A>T (n.*2470A>T) c.2573A>T (p.Tyr858Phe) c.*1056A>T (n.*1056A>T) c.*2580A>T (n.*2580A>T) c.2330A>T (p.Tyr777Phe) c.347A>T (p.Tyr116Phe) c.406A>T c.1538A>T (p.Tyr513Phe) c.2666A>T (p.Tyr889Phe) c.2846A>T (p.Tyr949Phe) c.2513A>T (p.Tyr838Phe) | |
| 7 | g.117603631C>A | CA368986669 | CFTR | c.2757C>A (p.Tyr919Ter) c.*2471C>A (n.*2471C>A) c.2574C>A (p.Tyr858Ter) c.*1057C>A (n.*1057C>A) c.*2581C>A (n.*2581C>A) c.2331C>A (p.Tyr777Ter) c.348C>A (p.Tyr116Ter) c.407C>A c.1539C>A (p.Tyr513Ter) c.2667C>A (p.Tyr889Ter) c.2847C>A (p.Tyr949Ter) c.2514C>A (p.Tyr838Ter) | ClinVar dbSNP |
| 7 | g.117603631C= | CA1737374837 | CFTR | c.2757C= (p.Tyr919=) c.*2471C= (n.*2471C=) c.2574C= (p.Tyr858=) c.*1057C= (n.*1057C=) c.*2581C= (n.*2581C=) c.2331C= (p.Tyr777=) c.348C= (p.Tyr116=) c.407C= c.1539C= (p.Tyr513=) c.2667C= (p.Tyr889=) c.2847C= (p.Tyr949=) c.2514C= (p.Tyr838=) | |
| 7 | g.117603631C>G | CA368986670 | CFTR | c.2757C>G (p.Tyr919Ter) c.*2471C>G (n.*2471C>G) c.2574C>G (p.Tyr858Ter) c.*1057C>G (n.*1057C>G) c.*2581C>G (n.*2581C>G) c.2331C>G (p.Tyr777Ter) c.348C>G (p.Tyr116Ter) c.407C>G c.1539C>G (p.Tyr513Ter) c.2667C>G (p.Tyr889Ter) c.2847C>G (p.Tyr949Ter) c.2514C>G (p.Tyr838Ter) | ClinVar dbSNP |
| 7 | g.117603631C>T | CA457227951 | CFTR | c.2757C>T (p.Tyr919=) c.*2471C>T (n.*2471C>T) c.2574C>T (p.Tyr858=) c.*1057C>T (n.*1057C>T) c.*2581C>T (n.*2581C>T) c.2331C>T (p.Tyr777=) c.348C>T (p.Tyr116=) c.407C>T c.1539C>T (p.Tyr513=) c.2667C>T (p.Tyr889=) c.2847C>T (p.Tyr949=) c.2514C>T (p.Tyr838=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603632G>A | CA326916 | CFTR | c.2758G>A (p.Val920Met) c.*2472G>A (n.*2472G>A) c.2575G>A (p.Val859Met) c.*1058G>A (n.*1058G>A) c.*2582G>A (n.*2582G>A) c.2332G>A (p.Val778Met) c.349G>A (p.Val117Met) c.408G>A c.1540G>A (p.Val514Met) c.2668G>A (p.Val890Met) c.2848G>A (p.Val950Met) c.2515G>A (p.Val839Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603632G>C | CA368986672 | CFTR | c.2758G>C (p.Val920Leu) c.*2472G>C (n.*2472G>C) c.2575G>C (p.Val859Leu) c.*1058G>C (n.*1058G>C) c.*2582G>C (n.*2582G>C) c.2332G>C (p.Val778Leu) c.349G>C (p.Val117Leu) c.408G>C c.1540G>C (p.Val514Leu) c.2668G>C (p.Val890Leu) c.2848G>C (p.Val950Leu) c.2515G>C (p.Val839Leu) | ClinVar |
| 7 | g.117603632G= | CA1737374860 | CFTR | c.2758G= (p.Val920=) c.*2472G= (n.*2472G=) c.2575G= (p.Val859=) c.*1058G= (n.*1058G=) c.*2582G= (n.*2582G=) c.2332G= (p.Val778=) c.349G= (p.Val117=) c.408G= c.1540G= (p.Val514=) c.2668G= (p.Val890=) c.2848G= (p.Val950=) c.2515G= (p.Val839=) | |
| 7 | g.117603632G>T | CA326918 | CFTR | c.2758G>T (p.Val920Leu) c.*2472G>T (n.*2472G>T) c.2575G>T (p.Val859Leu) c.*1058G>T (n.*1058G>T) c.*2582G>T (n.*2582G>T) c.2332G>T (p.Val778Leu) c.349G>T (p.Val117Leu) c.408G>T c.1540G>T (p.Val514Leu) c.2668G>T (p.Val890Leu) c.2848G>T (p.Val950Leu) c.2515G>T (p.Val839Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603633T>A | CA368986675 | CFTR | c.2759T>A (p.Val920Glu) c.*2473T>A (n.*2473T>A) c.2576T>A (p.Val859Glu) c.*1059T>A (n.*1059T>A) c.*2583T>A (n.*2583T>A) c.2333T>A (p.Val778Glu) c.350T>A (p.Val117Glu) c.409T>A c.1541T>A (p.Val514Glu) c.2669T>A (p.Val890Glu) c.2849T>A (p.Val950Glu) c.2516T>A (p.Val839Glu) | |
| 7 | g.117603633T>C | CA368986677 | CFTR | c.2759T>C (p.Val920Ala) c.*2473T>C (n.*2473T>C) c.2576T>C (p.Val859Ala) c.*1059T>C (n.*1059T>C) c.*2583T>C (n.*2583T>C) c.2333T>C (p.Val778Ala) c.350T>C (p.Val117Ala) c.409T>C c.1541T>C (p.Val514Ala) c.2669T>C (p.Val890Ala) c.2849T>C (p.Val950Ala) c.2516T>C (p.Val839Ala) | |
| 7 | g.117603633T>G | CA368986679 | CFTR | c.2759T>G (p.Val920Gly) c.*2473T>G (n.*2473T>G) c.2576T>G (p.Val859Gly) c.*1059T>G (n.*1059T>G) c.*2583T>G (n.*2583T>G) c.2333T>G (p.Val778Gly) c.350T>G (p.Val117Gly) c.409T>G c.1541T>G (p.Val514Gly) c.2669T>G (p.Val890Gly) c.2849T>G (p.Val950Gly) c.2516T>G (p.Val839Gly) | dbSNP |
| 7 | g.117603633T= | CA1737374873 | CFTR | c.2759T= (p.Val920=) c.*2473T= (n.*2473T=) c.2576T= (p.Val859=) c.*1059T= (n.*1059T=) c.*2583T= (n.*2583T=) c.2333T= (p.Val778=) c.350T= (p.Val117=) c.409T= c.1541T= (p.Val514=) c.2669T= (p.Val890=) c.2849T= (p.Val950=) c.2516T= (p.Val839=) | |
| 7 | g.117603633_117603634delinsTG | CA1737374874 | CFTR | c.2759_2760delinsTG (p.Val920=) c.*2473_*2474delinsTG (n.*2473_*2474delinsTG) c.2576_2577delinsTG (p.Val859=) c.*1059_*1060delinsTG (n.*1059_*1060delinsTG) c.*2583_*2584delinsTG (n.*2583_*2584delinsTG) c.2333_2334delinsTG (p.Val778=) c.350_351delinsTG (p.Val117=) c.409_410delinsTG c.1541_1542delinsTG (p.Val514=) c.2669_2670delinsTG (p.Val890=) c.2849_2850delinsTG (p.Val950=) c.2516_2517delinsTG (p.Val839=) | |
| 7 | g.117603634G>A | CA457227952 | CFTR | c.2760G>A (p.Val920=) c.*2474G>A (n.*2474G>A) c.2577G>A (p.Val859=) c.*1060G>A (n.*1060G>A) c.*2584G>A (n.*2584G>A) c.2334G>A (p.Val778=) c.351G>A (p.Val117=) c.410G>A c.1542G>A (p.Val514=) c.2670G>A (p.Val890=) c.2850G>A (p.Val950=) c.2517G>A (p.Val839=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603634G>C | CA457227953 | CFTR | c.2760G>C (p.Val920=) c.*2474G>C (n.*2474G>C) c.2577G>C (p.Val859=) c.*1060G>C (n.*1060G>C) c.*2584G>C (n.*2584G>C) c.2334G>C (p.Val778=) c.351G>C (p.Val117=) c.410G>C c.1542G>C (p.Val514=) c.2670G>C (p.Val890=) c.2850G>C (p.Val950=) c.2517G>C (p.Val839=) |