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.117603534C>A | CA4451267 | CFTR | c.2660C>A (p.Thr887Asn) c.*2374C>A (n.*2374C>A) c.2477C>A (p.Thr826Asn) c.*960C>A (n.*960C>A) c.*2484C>A (n.*2484C>A) c.2234C>A (p.Thr745Asn) c.251C>A (p.Thr84Asn) c.310C>A c.1442C>A (p.Thr481Asn) c.2570C>A (p.Thr857Asn) c.2750C>A (p.Thr917Asn) c.2417C>A (p.Thr806Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603534C= | CA1737374402 | CFTR | c.2660C= (p.Thr887=) c.*2374C= (n.*2374C=) c.2477C= (p.Thr826=) c.*960C= (n.*960C=) c.*2484C= (n.*2484C=) c.2234C= (p.Thr745=) c.251C= (p.Thr84=) c.310C= c.1442C= (p.Thr481=) c.2570C= (p.Thr857=) c.2750C= (p.Thr917=) c.2417C= (p.Thr806=) | |
7 | g.117603534C>G | CA368986376 | CFTR | c.2660C>G (p.Thr887Ser) c.*2374C>G (n.*2374C>G) c.2477C>G (p.Thr826Ser) c.*960C>G (n.*960C>G) c.*2484C>G (n.*2484C>G) c.2234C>G (p.Thr745Ser) c.251C>G (p.Thr84Ser) c.310C>G c.1442C>G (p.Thr481Ser) c.2570C>G (p.Thr857Ser) c.2750C>G (p.Thr917Ser) c.2417C>G (p.Thr806Ser) | |
7 | g.117603534C>T | CA368986377 | CFTR | c.2660C>T (p.Thr887Ile) c.*2374C>T (n.*2374C>T) c.2477C>T (p.Thr826Ile) c.*960C>T (n.*960C>T) c.*2484C>T (n.*2484C>T) c.2234C>T (p.Thr745Ile) c.251C>T (p.Thr84Ile) c.310C>T c.1442C>T (p.Thr481Ile) c.2570C>T (p.Thr857Ile) c.2750C>T (p.Thr917Ile) c.2417C>T (p.Thr806Ile) | |
7 | g.117603535T>A | CA457227855 | CFTR | c.2661T>A (p.Thr887=) c.*2375T>A (n.*2375T>A) c.2478T>A (p.Thr826=) c.*961T>A (n.*961T>A) c.*2485T>A (n.*2485T>A) c.2235T>A (p.Thr745=) c.252T>A (p.Thr84=) c.311T>A c.1443T>A (p.Thr481=) c.2571T>A (p.Thr857=) c.2751T>A (p.Thr917=) c.2418T>A (p.Thr806=) | |
7 | g.117603535T>C | CA457227856 | CFTR | c.2661T>C (p.Thr887=) c.*2375T>C (n.*2375T>C) c.2478T>C (p.Thr826=) c.*961T>C (n.*961T>C) c.*2485T>C (n.*2485T>C) c.2235T>C (p.Thr745=) c.252T>C (p.Thr84=) c.311T>C c.1443T>C (p.Thr481=) c.2571T>C (p.Thr857=) c.2751T>C (p.Thr917=) c.2418T>C (p.Thr806=) | |
7 | g.117603535T>G | CA457227857 | CFTR | c.2661T>G (p.Thr887=) c.*2375T>G (n.*2375T>G) c.2478T>G (p.Thr826=) c.*961T>G (n.*961T>G) c.*2485T>G (n.*2485T>G) c.2235T>G (p.Thr745=) c.252T>G (p.Thr84=) c.311T>G c.1443T>G (p.Thr481=) c.2571T>G (p.Thr857=) c.2751T>G (p.Thr917=) c.2418T>G (p.Thr806=) | |
7 | g.117603536C>A | CA368986378 | CFTR | c.2662C>A (p.Pro888Thr) c.*2376C>A (n.*2376C>A) c.2479C>A (p.Pro827Thr) c.*962C>A (n.*962C>A) c.*2486C>A (n.*2486C>A) c.2236C>A (p.Pro746Thr) c.253C>A (p.Pro85Thr) c.312C>A c.1444C>A (p.Pro482Thr) c.2572C>A (p.Pro858Thr) c.2752C>A (p.Pro918Thr) c.2419C>A (p.Pro807Thr) | |
7 | g.117603536C>G | CA368986379 | CFTR | c.2662C>G (p.Pro888Ala) c.*2376C>G (n.*2376C>G) c.2479C>G (p.Pro827Ala) c.*962C>G (n.*962C>G) c.*2486C>G (n.*2486C>G) c.2236C>G (p.Pro746Ala) c.253C>G (p.Pro85Ala) c.312C>G c.1444C>G (p.Pro482Ala) c.2572C>G (p.Pro858Ala) c.2752C>G (p.Pro918Ala) c.2419C>G (p.Pro807Ala) | COSMIC |
7 | g.117603536C>T | CA368986380 | CFTR | c.2662C>T (p.Pro888Ser) c.*2376C>T (n.*2376C>T) c.2479C>T (p.Pro827Ser) c.*962C>T (n.*962C>T) c.*2486C>T (n.*2486C>T) c.2236C>T (p.Pro746Ser) c.253C>T (p.Pro85Ser) c.312C>T c.1444C>T (p.Pro482Ser) c.2572C>T (p.Pro858Ser) c.2752C>T (p.Pro918Ser) c.2419C>T (p.Pro807Ser) | gnomAD v4 |
7 | g.117603537C>A | CA4451268 | CFTR | c.2663C>A (p.Pro888His) c.*2377C>A (n.*2377C>A) c.2480C>A (p.Pro827His) c.*963C>A (n.*963C>A) c.*2487C>A (n.*2487C>A) c.2237C>A (p.Pro746His) c.254C>A (p.Pro85His) c.313C>A c.1445C>A (p.Pro482His) c.2573C>A (p.Pro858His) c.2753C>A (p.Pro918His) c.2420C>A (p.Pro807His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603537C= | CA1737374406 | CFTR | c.2663C= (p.Pro888=) c.*2377C= (n.*2377C=) c.2480C= (p.Pro827=) c.*963C= (n.*963C=) c.*2487C= (n.*2487C=) c.2237C= (p.Pro746=) c.254C= (p.Pro85=) c.313C= c.1445C= (p.Pro482=) c.2573C= (p.Pro858=) c.2753C= (p.Pro918=) c.2420C= (p.Pro807=) | |
7 | g.117603537C>G | CA368986381 | CFTR | c.2663C>G (p.Pro888Arg) c.*2377C>G (n.*2377C>G) c.2480C>G (p.Pro827Arg) c.*963C>G (n.*963C>G) c.*2487C>G (n.*2487C>G) c.2237C>G (p.Pro746Arg) c.254C>G (p.Pro85Arg) c.313C>G c.1445C>G (p.Pro482Arg) c.2573C>G (p.Pro858Arg) c.2753C>G (p.Pro918Arg) c.2420C>G (p.Pro807Arg) | gnomAD v4 |
7 | g.117603537C>T | CA368986382 | CFTR | c.2663C>T (p.Pro888Leu) c.*2377C>T (n.*2377C>T) c.2480C>T (p.Pro827Leu) c.*963C>T (n.*963C>T) c.*2487C>T (n.*2487C>T) c.2237C>T (p.Pro746Leu) c.254C>T (p.Pro85Leu) c.313C>T c.1445C>T (p.Pro482Leu) c.2573C>T (p.Pro858Leu) c.2753C>T (p.Pro918Leu) c.2420C>T (p.Pro807Leu) | |
7 | g.117603538T>A | CA457227859 | CFTR | c.2664T>A (p.Pro888=) c.*2378T>A (n.*2378T>A) c.2481T>A (p.Pro827=) c.*964T>A (n.*964T>A) c.*2488T>A (n.*2488T>A) c.2238T>A (p.Pro746=) c.255T>A (p.Pro85=) c.314T>A c.1446T>A (p.Pro482=) c.2574T>A (p.Pro858=) c.2754T>A (p.Pro918=) c.2421T>A (p.Pro807=) | |
7 | g.117603538T>C | CA457227860 | CFTR | c.2664T>C (p.Pro888=) c.*2378T>C (n.*2378T>C) c.2481T>C (p.Pro827=) c.*964T>C (n.*964T>C) c.*2488T>C (n.*2488T>C) c.2238T>C (p.Pro746=) c.255T>C (p.Pro85=) c.314T>C c.1446T>C (p.Pro482=) c.2574T>C (p.Pro858=) c.2754T>C (p.Pro918=) c.2421T>C (p.Pro807=) | gnomAD v4 |
7 | g.117603538T>G | CA457227861 | CFTR | c.2664T>G (p.Pro888=) c.*2378T>G (n.*2378T>G) c.2481T>G (p.Pro827=) c.*964T>G (n.*964T>G) c.*2488T>G (n.*2488T>G) c.2238T>G (p.Pro746=) c.255T>G (p.Pro85=) c.314T>G c.1446T>G (p.Pro482=) c.2574T>G (p.Pro858=) c.2754T>G (p.Pro918=) c.2421T>G (p.Pro807=) | |
7 | g.117603540_117603542del | CA2579000227 | CFTR | c.2666_2668del (p.Leu889del) c.*2380_*2382del (n.*2380_*2382del) c.2483_2485del (p.Leu828del) c.*966_*968del (n.*966_*968del) c.*2490_*2492del (n.*2490_*2492del) c.2240_2242del (p.Leu747del) c.257_259del (p.Leu86del) c.316_318del c.1448_1450del (p.Leu483del) c.2576_2578del (p.Leu859del) c.2756_2758del (p.Leu919del) c.2423_2425del (p.Leu808del) | |
7 | g.117603539C>A | CA368986384 | CFTR | c.2665C>A (p.Leu889Ile) c.*2379C>A (n.*2379C>A) c.2482C>A (p.Leu828Ile) c.*965C>A (n.*965C>A) c.*2489C>A (n.*2489C>A) c.2239C>A (p.Leu747Ile) c.256C>A (p.Leu86Ile) c.315C>A c.1447C>A (p.Leu483Ile) c.2575C>A (p.Leu859Ile) c.2755C>A (p.Leu919Ile) c.2422C>A (p.Leu808Ile) | |
7 | g.117603539C= | CA1737374415 | CFTR | c.2665C= (p.Leu889=) c.*2379C= (n.*2379C=) c.2482C= (p.Leu828=) c.*965C= (n.*965C=) c.*2489C= (n.*2489C=) c.2239C= (p.Leu747=) c.256C= (p.Leu86=) c.315C= c.1447C= (p.Leu483=) c.2575C= (p.Leu859=) c.2755C= (p.Leu919=) c.2422C= (p.Leu808=) | |
7 | g.117603539C>G | CA368986383 | CFTR | c.2665C>G (p.Leu889Val) c.*2379C>G (n.*2379C>G) c.2482C>G (p.Leu828Val) c.*965C>G (n.*965C>G) c.*2489C>G (n.*2489C>G) c.2239C>G (p.Leu747Val) c.256C>G (p.Leu86Val) c.315C>G c.1447C>G (p.Leu483Val) c.2575C>G (p.Leu859Val) c.2755C>G (p.Leu919Val) c.2422C>G (p.Leu808Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603539C>T | CA4451269 | CFTR | c.2665C>T (p.Leu889Phe) c.*2379C>T (n.*2379C>T) c.2482C>T (p.Leu828Phe) c.*965C>T (n.*965C>T) c.*2489C>T (n.*2489C>T) c.2239C>T (p.Leu747Phe) c.256C>T (p.Leu86Phe) c.315C>T c.1447C>T (p.Leu483Phe) c.2575C>T (p.Leu859Phe) c.2755C>T (p.Leu919Phe) c.2422C>T (p.Leu808Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603540T>A | CA368986385 | CFTR | c.2666T>A (p.Leu889His) c.*2380T>A (n.*2380T>A) c.2483T>A (p.Leu828His) c.*966T>A (n.*966T>A) c.*2490T>A (n.*2490T>A) c.2240T>A (p.Leu747His) c.257T>A (p.Leu86His) c.316T>A c.1448T>A (p.Leu483His) c.2576T>A (p.Leu859His) c.2756T>A (p.Leu919His) c.2423T>A (p.Leu808His) | |
7 | g.117603540T>C | CA368986386 | CFTR | c.2666T>C (p.Leu889Pro) c.*2380T>C (n.*2380T>C) c.2483T>C (p.Leu828Pro) c.*966T>C (n.*966T>C) c.*2490T>C (n.*2490T>C) c.2240T>C (p.Leu747Pro) c.257T>C (p.Leu86Pro) c.316T>C c.1448T>C (p.Leu483Pro) c.2576T>C (p.Leu859Pro) c.2756T>C (p.Leu919Pro) c.2423T>C (p.Leu808Pro) | |
7 | g.117603540T>G | CA368986387 | CFTR | c.2666T>G (p.Leu889Arg) c.*2380T>G (n.*2380T>G) c.2483T>G (p.Leu828Arg) c.*966T>G (n.*966T>G) c.*2490T>G (n.*2490T>G) c.2240T>G (p.Leu747Arg) c.257T>G (p.Leu86Arg) c.316T>G c.1448T>G (p.Leu483Arg) c.2576T>G (p.Leu859Arg) c.2756T>G (p.Leu919Arg) c.2423T>G (p.Leu808Arg) | |
7 | g.117603541T>A | CA457227862 | CFTR | c.2667T>A (p.Leu889=) c.*2381T>A (n.*2381T>A) c.2484T>A (p.Leu828=) c.*967T>A (n.*967T>A) c.*2491T>A (n.*2491T>A) c.2241T>A (p.Leu747=) c.258T>A (p.Leu86=) c.317T>A c.1449T>A (p.Leu483=) c.2577T>A (p.Leu859=) c.2757T>A (p.Leu919=) c.2424T>A (p.Leu808=) | |
7 | g.117603541T>C | CA457227864 | CFTR | c.2667T>C (p.Leu889=) c.*2381T>C (n.*2381T>C) c.2484T>C (p.Leu828=) c.*967T>C (n.*967T>C) c.*2491T>C (n.*2491T>C) c.2241T>C (p.Leu747=) c.258T>C (p.Leu86=) c.317T>C c.1449T>C (p.Leu483=) c.2577T>C (p.Leu859=) c.2757T>C (p.Leu919=) c.2424T>C (p.Leu808=) | |
7 | g.117603541T>G | CA457227865 | CFTR | c.2667T>G (p.Leu889=) c.*2381T>G (n.*2381T>G) c.2484T>G (p.Leu828=) c.*967T>G (n.*967T>G) c.*2491T>G (n.*2491T>G) c.2241T>G (p.Leu747=) c.258T>G (p.Leu86=) c.317T>G c.1449T>G (p.Leu483=) c.2577T>G (p.Leu859=) c.2757T>G (p.Leu919=) c.2424T>G (p.Leu808=) | |
7 | g.117603542C>A | CA368986388 | CFTR | c.2668C>A (p.Gln890Lys) c.*2382C>A (n.*2382C>A) c.2485C>A (p.Gln829Lys) c.*968C>A (n.*968C>A) c.*2492C>A (n.*2492C>A) c.2242C>A (p.Gln748Lys) c.259C>A (p.Gln87Lys) c.318C>A c.1450C>A (p.Gln484Lys) c.2578C>A (p.Gln860Lys) c.2758C>A (p.Gln920Lys) c.2425C>A (p.Gln809Lys) | |
7 | g.117603542C= | CA1737374421 | CFTR | c.2668C= (p.Gln890=) c.*2382C= (n.*2382C=) c.2485C= (p.Gln829=) c.*968C= (n.*968C=) c.*2492C= (n.*2492C=) c.2242C= (p.Gln748=) c.259C= (p.Gln87=) c.318C= c.1450C= (p.Gln484=) c.2578C= (p.Gln860=) c.2758C= (p.Gln920=) c.2425C= (p.Gln809=) | |
7 | g.117603542C>G | CA368986389 | CFTR | c.2668C>G (p.Gln890Glu) c.*2382C>G (n.*2382C>G) c.2485C>G (p.Gln829Glu) c.*968C>G (n.*968C>G) c.*2492C>G (n.*2492C>G) c.2242C>G (p.Gln748Glu) c.259C>G (p.Gln87Glu) c.318C>G c.1450C>G (p.Gln484Glu) c.2578C>G (p.Gln860Glu) c.2758C>G (p.Gln920Glu) c.2425C>G (p.Gln809Glu) | |
7 | g.117603542C>T | CA325590 | CFTR | c.2668C>T (p.Gln890Ter) c.*2382C>T (n.*2382C>T) c.2485C>T (p.Gln829Ter) c.*968C>T (n.*968C>T) c.*2492C>T (n.*2492C>T) c.2242C>T (p.Gln748Ter) c.259C>T (p.Gln87Ter) c.318C>T c.1450C>T (p.Gln484Ter) c.2578C>T (p.Gln860Ter) c.2758C>T (p.Gln920Ter) c.2425C>T (p.Gln809Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117603543A= | CA1737374427 | CFTR | c.2669A= (p.Gln890=) c.*2383A= (n.*2383A=) c.2486A= (p.Gln829=) c.*969A= (n.*969A=) c.*2493A= (n.*2493A=) c.2243A= (p.Gln748=) c.260A= (p.Gln87=) c.319A= c.1451A= (p.Gln484=) c.2579A= (p.Gln860=) c.2759A= (p.Gln920=) c.2426A= (p.Gln809=) | |
7 | g.117603543A>C | CA368986390 | CFTR | c.2669A>C (p.Gln890Pro) c.*2383A>C (n.*2383A>C) c.2486A>C (p.Gln829Pro) c.*969A>C (n.*969A>C) c.*2493A>C (n.*2493A>C) c.2243A>C (p.Gln748Pro) c.260A>C (p.Gln87Pro) c.319A>C c.1451A>C (p.Gln484Pro) c.2579A>C (p.Gln860Pro) c.2759A>C (p.Gln920Pro) c.2426A>C (p.Gln809Pro) | |
7 | g.117603543A>G | CA326882 | CFTR | c.2669A>G (p.Gln890Arg) c.*2383A>G (n.*2383A>G) c.2486A>G (p.Gln829Arg) c.*969A>G (n.*969A>G) c.*2493A>G (n.*2493A>G) c.2243A>G (p.Gln748Arg) c.260A>G (p.Gln87Arg) c.319A>G c.1451A>G (p.Gln484Arg) c.2579A>G (p.Gln860Arg) c.2759A>G (p.Gln920Arg) c.2426A>G (p.Gln809Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603543A>T | CA368986391 | CFTR | c.2669A>T (p.Gln890Leu) c.*2383A>T (n.*2383A>T) c.2486A>T (p.Gln829Leu) c.*969A>T (n.*969A>T) c.*2493A>T (n.*2493A>T) c.2243A>T (p.Gln748Leu) c.260A>T (p.Gln87Leu) c.319A>T c.1451A>T (p.Gln484Leu) c.2579A>T (p.Gln860Leu) c.2759A>T (p.Gln920Leu) c.2426A>T (p.Gln809Leu) | |
7 | g.117603544A>C | CA368986392 | CFTR | c.2670A>C (p.Gln890His) c.*2384A>C (n.*2384A>C) c.2487A>C (p.Gln829His) c.*970A>C (n.*970A>C) c.*2494A>C (n.*2494A>C) c.2244A>C (p.Gln748His) c.261A>C (p.Gln87His) c.320A>C c.1452A>C (p.Gln484His) c.2580A>C (p.Gln860His) c.2760A>C (p.Gln920His) c.2427A>C (p.Gln809His) | |
7 | g.117603544A>G | CA457227866 | CFTR | c.2670A>G (p.Gln890=) c.*2384A>G (n.*2384A>G) c.2487A>G (p.Gln829=) c.*970A>G (n.*970A>G) c.*2494A>G (n.*2494A>G) c.2244A>G (p.Gln748=) c.261A>G (p.Gln87=) c.320A>G c.1452A>G (p.Gln484=) c.2580A>G (p.Gln860=) c.2760A>G (p.Gln920=) c.2427A>G (p.Gln809=) | |
7 | g.117603544A>T | CA368986393 | CFTR | c.2670A>T (p.Gln890His) c.*2384A>T (n.*2384A>T) c.2487A>T (p.Gln829His) c.*970A>T (n.*970A>T) c.*2494A>T (n.*2494A>T) c.2244A>T (p.Gln748His) c.261A>T (p.Gln87His) c.320A>T c.1452A>T (p.Gln484His) c.2580A>T (p.Gln860His) c.2760A>T (p.Gln920His) c.2427A>T (p.Gln809His) | |
7 | g.117603545G>A | CA4451270 | CFTR | c.2671G>A (p.Asp891Asn) c.*2385G>A (n.*2385G>A) c.2488G>A (p.Asp830Asn) c.*971G>A (n.*971G>A) c.*2495G>A (n.*2495G>A) c.2245G>A (p.Asp749Asn) c.262G>A (p.Asp88Asn) c.321G>A c.1453G>A (p.Asp485Asn) c.2581G>A (p.Asp861Asn) c.2761G>A (p.Asp921Asn) c.2428G>A (p.Asp810Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603545G>C | CA368986394 | CFTR | c.2671G>C (p.Asp891His) c.*2385G>C (n.*2385G>C) c.2488G>C (p.Asp830His) c.*971G>C (n.*971G>C) c.*2495G>C (n.*2495G>C) c.2245G>C (p.Asp749His) c.262G>C (p.Asp88His) c.321G>C c.1453G>C (p.Asp485His) c.2581G>C (p.Asp861His) c.2761G>C (p.Asp921His) c.2428G>C (p.Asp810His) | |
7 | g.117603545G= | CA1737374430 | CFTR | c.2671G= (p.Asp891=) c.*2385G= (n.*2385G=) c.2488G= (p.Asp830=) c.*971G= (n.*971G=) c.*2495G= (n.*2495G=) c.2245G= (p.Asp749=) c.262G= (p.Asp88=) c.321G= c.1453G= (p.Asp485=) c.2581G= (p.Asp861=) c.2761G= (p.Asp921=) c.2428G= (p.Asp810=) | |
7 | g.117603545G>T | CA368986395 | CFTR | c.2671G>T (p.Asp891Tyr) c.*2385G>T (n.*2385G>T) c.2488G>T (p.Asp830Tyr) c.*971G>T (n.*971G>T) c.*2495G>T (n.*2495G>T) c.2245G>T (p.Asp749Tyr) c.262G>T (p.Asp88Tyr) c.321G>T c.1453G>T (p.Asp485Tyr) c.2581G>T (p.Asp861Tyr) c.2761G>T (p.Asp921Tyr) c.2428G>T (p.Asp810Tyr) | |
7 | g.117603546del | CA2695208418 | CFTR | c.2672del (p.Asp891AlafsTer15) c.*2386del (n.*2386del) c.2489del (p.Asp830AlafsTer15) c.*972del (n.*972del) c.*2496del (n.*2496del) c.2246del (p.Asp749AlafsTer15) c.263del (p.Asp88AlafsTer15) c.322del c.1454del (p.Asp485AlafsTer15) c.2582del (p.Asp861AlafsTer15) c.2762del (p.Asp921AlafsTer15) c.2429del (p.Asp810AlafsTer15) | |
7 | g.117603546A= | CA1737374437 | CFTR | c.2672A= (p.Asp891=) c.*2386A= (n.*2386A=) c.2489A= (p.Asp830=) c.*972A= (n.*972A=) c.*2496A= (n.*2496A=) c.2246A= (p.Asp749=) c.263A= (p.Asp88=) c.322A= c.1454A= (p.Asp485=) c.2582A= (p.Asp861=) c.2762A= (p.Asp921=) c.2429A= (p.Asp810=) | |
7 | g.117603546A>C | CA368986396 | CFTR | c.2672A>C (p.Asp891Ala) c.*2386A>C (n.*2386A>C) c.2489A>C (p.Asp830Ala) c.*972A>C (n.*972A>C) c.*2496A>C (n.*2496A>C) c.2246A>C (p.Asp749Ala) c.263A>C (p.Asp88Ala) c.322A>C c.1454A>C (p.Asp485Ala) c.2582A>C (p.Asp861Ala) c.2762A>C (p.Asp921Ala) c.2429A>C (p.Asp810Ala) | |
7 | g.117603546A>G | CA4451271 | CFTR | c.2672A>G (p.Asp891Gly) c.*2386A>G (n.*2386A>G) c.2489A>G (p.Asp830Gly) c.*972A>G (n.*972A>G) c.*2496A>G (n.*2496A>G) c.2246A>G (p.Asp749Gly) c.263A>G (p.Asp88Gly) c.322A>G c.1454A>G (p.Asp485Gly) c.2582A>G (p.Asp861Gly) c.2762A>G (p.Asp921Gly) c.2429A>G (p.Asp810Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603546A>T | CA368986397 | CFTR | c.2672A>T (p.Asp891Val) c.*2386A>T (n.*2386A>T) c.2489A>T (p.Asp830Val) c.*972A>T (n.*972A>T) c.*2496A>T (n.*2496A>T) c.2246A>T (p.Asp749Val) c.263A>T (p.Asp88Val) c.322A>T c.1454A>T (p.Asp485Val) c.2582A>T (p.Asp861Val) c.2762A>T (p.Asp921Val) c.2429A>T (p.Asp810Val) |