WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.117603648_117603650delinsCTT | CA1737374978 | CFTR | c.2774_2776delinsCTT (p.Thr925=) c.*2488_*2490delinsCTT (n.*2488_*2490delinsCTT) c.2591_2593delinsCTT (p.Thr864=) c.*1074_*1076delinsCTT (n.*1074_*1076delinsCTT) c.*2598_*2600delinsCTT (n.*2598_*2600delinsCTT) c.2348_2350delinsCTT (p.Thr783=) c.365_367delinsCTT (p.Thr122=) c.424_426delinsCTT c.1556_1558delinsCTT (p.Thr519=) c.2684_2686delinsCTT (p.Thr895=) c.2864_2866delinsCTT (p.Thr955=) c.2531_2533delinsCTT (p.Thr844=) | |
| 7 | g.117603649T>A | CA457227963 | CFTR | c.2775T>A (p.Thr925=) c.*2489T>A (n.*2489T>A) c.2592T>A (p.Thr864=) c.*1075T>A (n.*1075T>A) c.*2599T>A (n.*2599T>A) c.2349T>A (p.Thr783=) c.366T>A (p.Thr122=) c.425T>A c.1557T>A (p.Thr519=) c.2685T>A (p.Thr895=) c.2865T>A (p.Thr955=) c.2532T>A (p.Thr844=) | |
| 7 | g.117603649T>C | CA457227964 | CFTR | c.2775T>C (p.Thr925=) c.*2489T>C (n.*2489T>C) c.2592T>C (p.Thr864=) c.*1075T>C (n.*1075T>C) c.*2599T>C (n.*2599T>C) c.2349T>C (p.Thr783=) c.366T>C (p.Thr122=) c.425T>C c.1557T>C (p.Thr519=) c.2685T>C (p.Thr895=) c.2865T>C (p.Thr955=) c.2532T>C (p.Thr844=) | |
| 7 | g.117603649T>G | CA457227965 | CFTR | c.2775T>G (p.Thr925=) c.*2489T>G (n.*2489T>G) c.2592T>G (p.Thr864=) c.*1075T>G (n.*1075T>G) c.*2599T>G (n.*2599T>G) c.2349T>G (p.Thr783=) c.366T>G (p.Thr122=) c.425T>G c.1557T>G (p.Thr519=) c.2685T>G (p.Thr895=) c.2865T>G (p.Thr955=) c.2532T>G (p.Thr844=) | |
| 7 | g.117603651del | CA326926 | CFTR | c.2777del (p.Leu926CysfsTer16) c.*2491del (n.*2491del) c.2594del (p.Leu865CysfsTer16) c.*1077del (n.*1077del) c.*2601del (n.*2601del) c.2351del (p.Leu784CysfsTer16) c.368del (p.Leu123CysfsTer16) c.427del c.1559del (p.Leu520CysfsTer16) c.2687del (p.Leu896CysfsTer16) c.2867del (p.Leu956CysfsTer16) c.2534del (p.Leu845CysfsTer16) | ClinVar dbSNP |
| 7 | g.117603650_117603651del | CA326925 | CFTR | c.2776_2777del (p.Leu926AlafsTer?) c.*2490_*2491del (n.*2490_*2491del) c.2593_2594del (p.Leu865AlafsTer?) c.*1076_*1077del (n.*1076_*1077del) c.*2600_*2601del (n.*2600_*2601del) c.2350_2351del (p.Leu784AlafsTer?) c.367_368del (p.Leu123AlafsTer?) c.426_427del c.1558_1559del (p.Leu520AlafsTer?) c.2686_2687del (p.Leu896AlafsTer?) c.2866_2867del (p.Leu956AlafsTer?) c.2533_2534del (p.Leu845AlafsTer?) | ClinVar dbSNP |
| 7 | g.117603650T>A | CA368986762 | CFTR | c.2776T>A (p.Leu926Met) c.*2490T>A (n.*2490T>A) c.2593T>A (p.Leu865Met) c.*1076T>A (n.*1076T>A) c.*2600T>A (n.*2600T>A) c.2350T>A (p.Leu784Met) c.367T>A (p.Leu123Met) c.426T>A c.1558T>A (p.Leu520Met) c.2686T>A (p.Leu896Met) c.2866T>A (p.Leu956Met) c.2533T>A (p.Leu845Met) | |
| 7 | g.117603650T>C | CA457227966 | CFTR | c.2776T>C (p.Leu926=) c.*2490T>C (n.*2490T>C) c.2593T>C (p.Leu865=) c.*1076T>C (n.*1076T>C) c.*2600T>C (n.*2600T>C) c.2350T>C (p.Leu784=) c.367T>C (p.Leu123=) c.426T>C c.1558T>C (p.Leu520=) c.2686T>C (p.Leu896=) c.2866T>C (p.Leu956=) c.2533T>C (p.Leu845=) | gnomAD v3 gnomAD v4 |
| 7 | g.117603650T>G | CA368986764 | CFTR | c.2776T>G (p.Leu926Val) c.*2490T>G (n.*2490T>G) c.2593T>G (p.Leu865Val) c.*1076T>G (n.*1076T>G) c.*2600T>G (n.*2600T>G) c.2350T>G (p.Leu784Val) c.367T>G (p.Leu123Val) c.426T>G c.1558T>G (p.Leu520Val) c.2686T>G (p.Leu896Val) c.2866T>G (p.Leu956Val) c.2533T>G (p.Leu845Val) | |
| 7 | g.117603651T>A | CA368986768 | CFTR | c.2777T>A (p.Leu926Ter) c.*2491T>A (n.*2491T>A) c.2594T>A (p.Leu865Ter) c.*1077T>A (n.*1077T>A) c.*2601T>A (n.*2601T>A) c.2351T>A (p.Leu784Ter) c.368T>A (p.Leu123Ter) c.427T>A c.1559T>A (p.Leu520Ter) c.2687T>A (p.Leu896Ter) c.2867T>A (p.Leu956Ter) c.2534T>A (p.Leu845Ter) | |
| 7 | g.117603651T>C | CA4451286 | CFTR | c.2777T>C (p.Leu926Ser) c.*2491T>C (n.*2491T>C) c.2594T>C (p.Leu865Ser) c.*1077T>C (n.*1077T>C) c.*2601T>C (n.*2601T>C) c.2351T>C (p.Leu784Ser) c.368T>C (p.Leu123Ser) c.427T>C c.1559T>C (p.Leu520Ser) c.2687T>C (p.Leu896Ser) c.2867T>C (p.Leu956Ser) c.2534T>C (p.Leu845Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603651T>G | CA368986771 | CFTR | c.2777T>G (p.Leu926Trp) c.*2491T>G (n.*2491T>G) c.2594T>G (p.Leu865Trp) c.*1077T>G (n.*1077T>G) c.*2601T>G (n.*2601T>G) c.2351T>G (p.Leu784Trp) c.368T>G (p.Leu123Trp) c.427T>G c.1559T>G (p.Leu520Trp) c.2687T>G (p.Leu896Trp) c.2867T>G (p.Leu956Trp) c.2534T>G (p.Leu845Trp) | |
| 7 | g.117603651T= | CA1737375014 | CFTR | c.2777T= (p.Leu926=) c.*2491T= (n.*2491T=) c.2594T= (p.Leu865=) c.*1077T= (n.*1077T=) c.*2601T= (n.*2601T=) c.2351T= (p.Leu784=) c.368T= (p.Leu123=) c.427T= c.1559T= (p.Leu520=) c.2687T= (p.Leu896=) c.2867T= (p.Leu956=) c.2534T= (p.Leu845=) | |
| 7 | g.117603652G>A | CA457227967 | CFTR | c.2778G>A (p.Leu926=) c.*2492G>A (n.*2492G>A) c.2595G>A (p.Leu865=) c.*1078G>A (n.*1078G>A) c.*2602G>A (n.*2602G>A) c.2352G>A (p.Leu784=) c.369G>A (p.Leu123=) c.428G>A c.1560G>A (p.Leu520=) c.2688G>A (p.Leu896=) c.2868G>A (p.Leu956=) c.2535G>A (p.Leu845=) | dbSNP gnomAD v4 |
| 7 | g.117603652G>C | CA368986774 | CFTR | c.2778G>C (p.Leu926Phe) c.*2492G>C (n.*2492G>C) c.2595G>C (p.Leu865Phe) c.*1078G>C (n.*1078G>C) c.*2602G>C (n.*2602G>C) c.2352G>C (p.Leu784Phe) c.369G>C (p.Leu123Phe) c.428G>C c.1560G>C (p.Leu520Phe) c.2688G>C (p.Leu896Phe) c.2868G>C (p.Leu956Phe) c.2535G>C (p.Leu845Phe) | |
| 7 | g.117603652G= | CA1737375019 | CFTR | c.2778G= (p.Leu926=) c.*2492G= (n.*2492G=) c.2595G= (p.Leu865=) c.*1078G= (n.*1078G=) c.*2602G= (n.*2602G=) c.2352G= (p.Leu784=) c.369G= (p.Leu123=) c.428G= c.1560G= (p.Leu520=) c.2688G= (p.Leu896=) c.2868G= (p.Leu956=) c.2535G= (p.Leu845=) | |
| 7 | g.117603652G>T | CA4451287 | CFTR | c.2778G>T (p.Leu926Phe) c.*2492G>T (n.*2492G>T) c.2595G>T (p.Leu865Phe) c.*1078G>T (n.*1078G>T) c.*2602G>T (n.*2602G>T) c.2352G>T (p.Leu784Phe) c.369G>T (p.Leu123Phe) c.428G>T c.1560G>T (p.Leu520Phe) c.2688G>T (p.Leu896Phe) c.2868G>T (p.Leu956Phe) c.2535G>T (p.Leu845Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603653_117603662dup | CA2695208419 | CFTR | c.2779_2788dup (p.Gly930AlafsTer?) c.*2493_*2502dup (n.*2493_*2502dup) c.2596_2605dup (p.Gly869AlafsTer?) c.*1079_*1088dup (n.*1079_*1088dup) c.*2603_*2612dup (n.*2603_*2612dup) c.2353_2362dup (p.Gly788AlafsTer?) c.370_379dup (p.Gly127AlafsTer?) c.429_438dup c.1561_1570dup (p.Gly524AlafsTer?) c.2689_2698dup (p.Gly900AlafsTer?) c.2869_2878dup (p.Gly960AlafsTer?) c.2536_2545dup (p.Gly849AlafsTer?) | |
| 7 | g.117603653C>A | CA368986787 | CFTR | c.2779C>A (p.Leu927Ile) c.*2493C>A (n.*2493C>A) c.2596C>A (p.Leu866Ile) c.*1079C>A (n.*1079C>A) c.*2603C>A (n.*2603C>A) c.2353C>A (p.Leu785Ile) c.370C>A (p.Leu124Ile) c.429C>A c.1561C>A (p.Leu521Ile) c.2689C>A (p.Leu897Ile) c.2869C>A (p.Leu957Ile) c.2536C>A (p.Leu846Ile) | |
| 7 | g.117603653C>G | CA368986783 | CFTR | c.2779C>G (p.Leu927Val) c.*2493C>G (n.*2493C>G) c.2596C>G (p.Leu866Val) c.*1079C>G (n.*1079C>G) c.*2603C>G (n.*2603C>G) c.2353C>G (p.Leu785Val) c.370C>G (p.Leu124Val) c.429C>G c.1561C>G (p.Leu521Val) c.2689C>G (p.Leu897Val) c.2869C>G (p.Leu957Val) c.2536C>G (p.Leu846Val) | |
| 7 | g.117603653C>T | CA368986779 | CFTR | c.2779C>T (p.Leu927Phe) c.*2493C>T (n.*2493C>T) c.2596C>T (p.Leu866Phe) c.*1079C>T (n.*1079C>T) c.*2603C>T (n.*2603C>T) c.2353C>T (p.Leu785Phe) c.370C>T (p.Leu124Phe) c.429C>T c.1561C>T (p.Leu521Phe) c.2689C>T (p.Leu897Phe) c.2869C>T (p.Leu957Phe) c.2536C>T (p.Leu846Phe) | |
| 7 | g.117603654T>A | CA368986791 | CFTR | c.2780T>A (p.Leu927His) c.*2494T>A (n.*2494T>A) c.2597T>A (p.Leu866His) c.*1080T>A (n.*1080T>A) c.*2604T>A (n.*2604T>A) c.2354T>A (p.Leu785His) c.371T>A (p.Leu124His) c.430T>A c.1562T>A (p.Leu521His) c.2690T>A (p.Leu897His) c.2870T>A (p.Leu957His) c.2537T>A (p.Leu846His) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603654T>C | CA328107 | CFTR | c.2780T>C (p.Leu927Pro) c.*2494T>C (n.*2494T>C) c.2597T>C (p.Leu866Pro) c.*1080T>C (n.*1080T>C) c.*2604T>C (n.*2604T>C) c.2354T>C (p.Leu785Pro) c.371T>C (p.Leu124Pro) c.430T>C c.1562T>C (p.Leu521Pro) c.2690T>C (p.Leu897Pro) c.2870T>C (p.Leu957Pro) c.2537T>C (p.Leu846Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603654T>G | CA368986796 | CFTR | c.2780T>G (p.Leu927Arg) c.*2494T>G (n.*2494T>G) c.2597T>G (p.Leu866Arg) c.*1080T>G (n.*1080T>G) c.*2604T>G (n.*2604T>G) c.2354T>G (p.Leu785Arg) c.371T>G (p.Leu124Arg) c.430T>G c.1562T>G (p.Leu521Arg) c.2690T>G (p.Leu897Arg) c.2870T>G (p.Leu957Arg) c.2537T>G (p.Leu846Arg) | |
| 7 | g.117603654T= | CA1737375026 | CFTR | c.2780T= (p.Leu927=) c.*2494T= (n.*2494T=) c.2597T= (p.Leu866=) c.*1080T= (n.*1080T=) c.*2604T= (n.*2604T=) c.2354T= (p.Leu785=) c.371T= (p.Leu124=) c.430T= c.1562T= (p.Leu521=) c.2690T= (p.Leu897=) c.2870T= (p.Leu957=) c.2537T= (p.Leu846=) | |
| 7 | g.117603655T>A | CA457227968 | CFTR | c.2781T>A (p.Leu927=) c.*2495T>A (n.*2495T>A) c.2598T>A (p.Leu866=) c.*1081T>A (n.*1081T>A) c.*2605T>A (n.*2605T>A) c.2355T>A (p.Leu785=) c.372T>A (p.Leu124=) c.431T>A c.1563T>A (p.Leu521=) c.2691T>A (p.Leu897=) c.2871T>A (p.Leu957=) c.2538T>A (p.Leu846=) | dbSNP |
| 7 | g.117603655T>C | CA457227970 | CFTR | c.2781T>C (p.Leu927=) c.*2495T>C (n.*2495T>C) c.2598T>C (p.Leu866=) c.*1081T>C (n.*1081T>C) c.*2605T>C (n.*2605T>C) c.2355T>C (p.Leu785=) c.372T>C (p.Leu124=) c.431T>C c.1563T>C (p.Leu521=) c.2691T>C (p.Leu897=) c.2871T>C (p.Leu957=) c.2538T>C (p.Leu846=) | |
| 7 | g.117603655T>G | CA457227969 | CFTR | c.2781T>G (p.Leu927=) c.*2495T>G (n.*2495T>G) c.2598T>G (p.Leu866=) c.*1081T>G (n.*1081T>G) c.*2605T>G (n.*2605T>G) c.2355T>G (p.Leu785=) c.372T>G (p.Leu124=) c.431T>G c.1563T>G (p.Leu521=) c.2691T>G (p.Leu897=) c.2871T>G (p.Leu957=) c.2538T>G (p.Leu846=) | |
| 7 | g.117603655T= | CA1737375032 | CFTR | c.2781T= (p.Leu927=) c.*2495T= (n.*2495T=) c.2598T= (p.Leu866=) c.*1081T= (n.*1081T=) c.*2605T= (n.*2605T=) c.2355T= (p.Leu785=) c.372T= (p.Leu124=) c.431T= c.1563T= (p.Leu521=) c.2691T= (p.Leu897=) c.2871T= (p.Leu957=) c.2538T= (p.Leu846=) | |
| 7 | g.117603656G>A | CA368986801 | CFTR | c.2782G>A (p.Ala928Thr) c.*2496G>A (n.*2496G>A) c.2599G>A (p.Ala867Thr) c.*1082G>A (n.*1082G>A) c.*2606G>A (n.*2606G>A) c.2356G>A (p.Ala786Thr) c.373G>A (p.Ala125Thr) c.432G>A c.1564G>A (p.Ala522Thr) c.2692G>A (p.Ala898Thr) c.2872G>A (p.Ala958Thr) c.2539G>A (p.Ala847Thr) | |
| 7 | g.117603656G>C | CA368986804 | CFTR | c.2782G>C (p.Ala928Pro) c.*2496G>C (n.*2496G>C) c.2599G>C (p.Ala867Pro) c.*1082G>C (n.*1082G>C) c.*2606G>C (n.*2606G>C) c.2356G>C (p.Ala786Pro) c.373G>C (p.Ala125Pro) c.432G>C c.1564G>C (p.Ala522Pro) c.2692G>C (p.Ala898Pro) c.2872G>C (p.Ala958Pro) c.2539G>C (p.Ala847Pro) | |
| 7 | g.117603656G>T | CA368986806 | CFTR | c.2782G>T (p.Ala928Ser) c.*2496G>T (n.*2496G>T) c.2599G>T (p.Ala867Ser) c.*1082G>T (n.*1082G>T) c.*2606G>T (n.*2606G>T) c.2356G>T (p.Ala786Ser) c.373G>T (p.Ala125Ser) c.432G>T c.1564G>T (p.Ala522Ser) c.2692G>T (p.Ala898Ser) c.2872G>T (p.Ala958Ser) c.2539G>T (p.Ala847Ser) | |
| 7 | g.117603657C>A | CA368986809 | CFTR | c.2783C>A (p.Ala928Asp) c.*2497C>A (n.*2497C>A) c.2600C>A (p.Ala867Asp) c.*1083C>A (n.*1083C>A) c.*2607C>A (n.*2607C>A) c.2357C>A (p.Ala786Asp) c.374C>A (p.Ala125Asp) c.433C>A c.1565C>A (p.Ala522Asp) c.2693C>A (p.Ala898Asp) c.2873C>A (p.Ala958Asp) c.2540C>A (p.Ala847Asp) | |
| 7 | g.117603657C>G | CA368986814 | CFTR | c.2783C>G (p.Ala928Gly) c.*2497C>G (n.*2497C>G) c.2600C>G (p.Ala867Gly) c.*1083C>G (n.*1083C>G) c.*2607C>G (n.*2607C>G) c.2357C>G (p.Ala786Gly) c.374C>G (p.Ala125Gly) c.433C>G c.1565C>G (p.Ala522Gly) c.2693C>G (p.Ala898Gly) c.2873C>G (p.Ala958Gly) c.2540C>G (p.Ala847Gly) | |
| 7 | g.117603657C>T | CA368986812 | CFTR | c.2783C>T (p.Ala928Val) c.*2497C>T (n.*2497C>T) c.2600C>T (p.Ala867Val) c.*1083C>T (n.*1083C>T) c.*2607C>T (n.*2607C>T) c.2357C>T (p.Ala786Val) c.374C>T (p.Ala125Val) c.433C>T c.1565C>T (p.Ala522Val) c.2693C>T (p.Ala898Val) c.2873C>T (p.Ala958Val) c.2540C>T (p.Ala847Val) | gnomAD v4 COSMIC |
| 7 | g.117603658T>A | CA457227973 | CFTR | c.2784T>A (p.Ala928=) c.*2498T>A (n.*2498T>A) c.2601T>A (p.Ala867=) c.*1084T>A (n.*1084T>A) c.*2608T>A (n.*2608T>A) c.2358T>A (p.Ala786=) c.375T>A (p.Ala125=) c.434T>A c.1566T>A (p.Ala522=) c.2694T>A (p.Ala898=) c.2874T>A (p.Ala958=) c.2541T>A (p.Ala847=) | |
| 7 | g.117603658T>C | CA457227972 | CFTR | c.2784T>C (p.Ala928=) c.*2498T>C (n.*2498T>C) c.2601T>C (p.Ala867=) c.*1084T>C (n.*1084T>C) c.*2608T>C (n.*2608T>C) c.2358T>C (p.Ala786=) c.375T>C (p.Ala125=) c.434T>C c.1566T>C (p.Ala522=) c.2694T>C (p.Ala898=) c.2874T>C (p.Ala958=) c.2541T>C (p.Ala847=) | |
| 7 | g.117603658T>G | CA457227971 | CFTR | c.2784T>G (p.Ala928=) c.*2498T>G (n.*2498T>G) c.2601T>G (p.Ala867=) c.*1084T>G (n.*1084T>G) c.*2608T>G (n.*2608T>G) c.2358T>G (p.Ala786=) c.375T>G (p.Ala125=) c.434T>G c.1566T>G (p.Ala522=) c.2694T>G (p.Ala898=) c.2874T>G (p.Ala958=) c.2541T>G (p.Ala847=) | |
| 7 | g.117603659A>C | CA368986819 | CFTR | c.2785A>C (p.Met929Leu) c.*2499A>C (n.*2499A>C) c.2602A>C (p.Met868Leu) c.*1085A>C (n.*1085A>C) c.*2609A>C (n.*2609A>C) c.2359A>C (p.Met787Leu) c.376A>C (p.Met126Leu) c.435A>C c.1567A>C (p.Met523Leu) c.2695A>C (p.Met899Leu) c.2875A>C (p.Met959Leu) c.2542A>C (p.Met848Leu) | |
| 7 | g.117603659A>G | CA368986822 | CFTR | c.2785A>G (p.Met929Val) c.*2499A>G (n.*2499A>G) c.2602A>G (p.Met868Val) c.*1085A>G (n.*1085A>G) c.*2609A>G (n.*2609A>G) c.2359A>G (p.Met787Val) c.376A>G (p.Met126Val) c.435A>G c.1567A>G (p.Met523Val) c.2695A>G (p.Met899Val) c.2875A>G (p.Met959Val) c.2542A>G (p.Met848Val) | |
| 7 | g.117603659A>T | CA368986825 | CFTR | c.2785A>T (p.Met929Leu) c.*2499A>T (n.*2499A>T) c.2602A>T (p.Met868Leu) c.*1085A>T (n.*1085A>T) c.*2609A>T (n.*2609A>T) c.2359A>T (p.Met787Leu) c.376A>T (p.Met126Leu) c.435A>T c.1567A>T (p.Met523Leu) c.2695A>T (p.Met899Leu) c.2875A>T (p.Met959Leu) c.2542A>T (p.Met848Leu) | |
| 7 | g.117603660T>A | CA368986828 | CFTR | c.2786T>A (p.Met929Lys) c.*2500T>A (n.*2500T>A) c.2603T>A (p.Met868Lys) c.*1086T>A (n.*1086T>A) c.*2610T>A (n.*2610T>A) c.2360T>A (p.Met787Lys) c.377T>A (p.Met126Lys) c.436T>A c.1568T>A (p.Met523Lys) c.2696T>A (p.Met899Lys) c.2876T>A (p.Met959Lys) c.2543T>A (p.Met848Lys) | gnomAD v4 |
| 7 | g.117603660T>C | CA368986831 | CFTR | c.2786T>C (p.Met929Thr) c.*2500T>C (n.*2500T>C) c.2603T>C (p.Met868Thr) c.*1086T>C (n.*1086T>C) c.*2610T>C (n.*2610T>C) c.2360T>C (p.Met787Thr) c.377T>C (p.Met126Thr) c.436T>C c.1568T>C (p.Met523Thr) c.2696T>C (p.Met899Thr) c.2876T>C (p.Met959Thr) c.2543T>C (p.Met848Thr) | |
| 7 | g.117603660T>G | CA368986840 | CFTR | c.2786T>G (p.Met929Arg) c.*2500T>G (n.*2500T>G) c.2603T>G (p.Met868Arg) c.*1086T>G (n.*1086T>G) c.*2610T>G (n.*2610T>G) c.2360T>G (p.Met787Arg) c.377T>G (p.Met126Arg) c.436T>G c.1568T>G (p.Met523Arg) c.2696T>G (p.Met899Arg) c.2876T>G (p.Met959Arg) c.2543T>G (p.Met848Arg) | |
| 7 | g.117603661G>A | CA368986843 | CFTR | c.2787G>A (p.Met929Ile) c.*2501G>A (n.*2501G>A) c.2604G>A (p.Met868Ile) c.*1087G>A (n.*1087G>A) c.*2611G>A (n.*2611G>A) c.2361G>A (p.Met787Ile) c.378G>A (p.Met126Ile) c.437G>A c.1569G>A (p.Met523Ile) c.2697G>A (p.Met899Ile) c.2877G>A (p.Met959Ile) c.2544G>A (p.Met848Ile) | ClinVar |
| 7 | g.117603661G>C | CA368986845 | CFTR | c.2787G>C (p.Met929Ile) c.*2501G>C (n.*2501G>C) c.2604G>C (p.Met868Ile) c.*1087G>C (n.*1087G>C) c.*2611G>C (n.*2611G>C) c.2361G>C (p.Met787Ile) c.378G>C (p.Met126Ile) c.437G>C c.1569G>C (p.Met523Ile) c.2697G>C (p.Met899Ile) c.2877G>C (p.Met959Ile) c.2544G>C (p.Met848Ile) | |
| 7 | g.117603661G>T | CA368986847 | CFTR | c.2787G>T (p.Met929Ile) c.*2501G>T (n.*2501G>T) c.2604G>T (p.Met868Ile) c.*1087G>T (n.*1087G>T) c.*2611G>T (n.*2611G>T) c.2361G>T (p.Met787Ile) c.378G>T (p.Met126Ile) c.437G>T c.1569G>T (p.Met523Ile) c.2697G>T (p.Met899Ile) c.2877G>T (p.Met959Ile) c.2544G>T (p.Met848Ile) | |
| 7 | g.117603663del | CA2695208420 | CFTR | c.2789del (p.Gly930AspfsTer12) c.*2503del (n.*2503del) c.2606del (p.Gly869AspfsTer12) c.*1089del (n.*1089del) c.*2613del (n.*2613del) c.2363del (p.Gly788AspfsTer12) c.380del (p.Gly127AspfsTer12) c.439del c.1571del (p.Gly524AspfsTer12) c.2699del (p.Gly900AspfsTer12) c.2879del (p.Gly960AspfsTer12) c.2546del (p.Gly849AspfsTer12) |