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.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.117592639dup | CA913111881 | CFTR | c.2472dup (p.Asn825Ter) c.*2186dup (n.*2186dup) c.2289dup (p.Asn764Ter) c.*772dup (n.*772dup) c.*2296dup (n.*2296dup) c.2046dup (p.Asn683Ter) c.63dup (p.Asn22Ter) c.122dup c.1402-10187dup (n.1402-10187dup) c.2382dup (p.Asn795Ter) c.2562dup (p.Asn855Ter) c.2229dup (p.Asn744Ter) | |
| 7 | g.117592639del | CA326823 | CFTR | c.2472del (p.Asn825ThrfsTer5) c.*2186del (n.*2186del) c.2289del (p.Asn764ThrfsTer5) c.*772del (n.*772del) c.*2296del (n.*2296del) c.2046del (p.Asn683ThrfsTer5) c.63del (p.Asn22ThrfsTer5) c.122del c.1402-10187del (n.1402-10187del) c.2382del (p.Asn795ThrfsTer5) c.2562del (p.Asn855ThrfsTer5) c.2229del (p.Asn744ThrfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592639T>A | CA457448985 | CFTR | c.2472T>A (p.Ile824=) c.*2186T>A (n.*2186T>A) c.2289T>A (p.Ile763=) c.*772T>A (n.*772T>A) c.*2296T>A (n.*2296T>A) c.2046T>A (p.Ile682=) c.63T>A (p.Ile21=) c.122T>A c.1402-10187T>A (n.1402-10187T>A) c.2382T>A (p.Ile794=) c.2562T>A (p.Ile854=) c.2229T>A (p.Ile743=) | ClinVar |
| 7 | g.117592639T>C | CA457448986 | CFTR | c.2472T>C (p.Ile824=) c.*2186T>C (n.*2186T>C) c.2289T>C (p.Ile763=) c.*772T>C (n.*772T>C) c.*2296T>C (n.*2296T>C) c.2046T>C (p.Ile682=) c.63T>C (p.Ile21=) c.122T>C c.1402-10187T>C (n.1402-10187T>C) c.2382T>C (p.Ile794=) c.2562T>C (p.Ile854=) c.2229T>C (p.Ile743=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592639T>G | CA368981570 | CFTR | c.2472T>G (p.Ile824Met) c.*2186T>G (n.*2186T>G) c.2289T>G (p.Ile763Met) c.*772T>G (n.*772T>G) c.*2296T>G (n.*2296T>G) c.2046T>G (p.Ile682Met) c.63T>G (p.Ile21Met) c.122T>G c.1402-10187T>G (n.1402-10187T>G) c.2382T>G (p.Ile794Met) c.2562T>G (p.Ile854Met) c.2229T>G (p.Ile743Met) | ClinVar |
| 7 | g.117592639T= | CA1737395736 | CFTR | c.2472T= (p.Ile824=) c.*2186T= (n.*2186T=) c.2289T= (p.Ile763=) c.*772T= (n.*772T=) c.*2296T= (n.*2296T=) c.2046T= (p.Ile682=) c.63T= (p.Ile21=) c.122T= c.1402-10187T= (n.1402-10187T=) c.2382T= (p.Ile794=) c.2562T= (p.Ile854=) c.2229T= (p.Ile743=) | |
| 7 | g.117592640A>C | CA368981573 | CFTR | c.2473A>C (p.Asn825His) c.*2187A>C (n.*2187A>C) c.2290A>C (p.Asn764His) c.*773A>C (n.*773A>C) c.*2297A>C (n.*2297A>C) c.2047A>C (p.Asn683His) c.64A>C (p.Asn22His) c.123A>C c.1402-10186A>C (n.1402-10186A>C) c.2383A>C (p.Asn795His) c.2563A>C (p.Asn855His) c.2230A>C (p.Asn744His) | |
| 7 | g.117592640A>G | CA368981574 | CFTR | c.2473A>G (p.Asn825Asp) c.*2187A>G (n.*2187A>G) c.2290A>G (p.Asn764Asp) c.*773A>G (n.*773A>G) c.*2297A>G (n.*2297A>G) c.2047A>G (p.Asn683Asp) c.64A>G (p.Asn22Asp) c.123A>G c.1402-10186A>G (n.1402-10186A>G) c.2383A>G (p.Asn795Asp) c.2563A>G (p.Asn855Asp) c.2230A>G (p.Asn744Asp) | gnomAD v4 |
| 7 | g.117592640A>T | CA368981575 | CFTR | c.2473A>T (p.Asn825Tyr) c.*2187A>T (n.*2187A>T) c.2290A>T (p.Asn764Tyr) c.*773A>T (n.*773A>T) c.*2297A>T (n.*2297A>T) c.2047A>T (p.Asn683Tyr) c.64A>T (p.Asn22Tyr) c.123A>T c.1402-10186A>T (n.1402-10186A>T) c.2383A>T (p.Asn795Tyr) c.2563A>T (p.Asn855Tyr) c.2230A>T (p.Asn744Tyr) | |
| 7 | g.117592642_117592645dup | CA658822501 | CFTR | c.2475_2478dup (p.Glu827ArgfsTer10) c.*2189_*2192dup (n.*2189_*2192dup) c.2292_2295dup (p.Glu766ArgfsTer10) c.*775_*778dup (n.*775_*778dup) c.*2299_*2302dup (n.*2299_*2302dup) c.2049_2052dup (p.Glu685ArgfsTer10) c.66_69dup (p.Glu24ArgfsTer10) c.125_128dup c.1402-10184_1402-10181dup (n.1402-10184_1402-10181dup) c.2385_2388dup (p.Glu797ArgfsTer10) c.2565_2568dup (p.Glu857ArgfsTer10) c.2232_2235dup (p.Glu746ArgfsTer10) | ClinVar dbSNP |
| 7 | g.117592641A= | CA1737395744 | CFTR | c.2474A= (p.Asn825=) c.*2188A= (n.*2188A=) c.2291A= (p.Asn764=) c.*774A= (n.*774A=) c.*2298A= (n.*2298A=) c.2048A= (p.Asn683=) c.65A= (p.Asn22=) c.124A= c.1402-10185A= (n.1402-10185A=) c.2384A= (p.Asn795=) c.2564A= (p.Asn855=) c.2231A= (p.Asn744=) | |
| 7 | g.117592641A>C | CA368981577 | CFTR | c.2474A>C (p.Asn825Thr) c.*2188A>C (n.*2188A>C) c.2291A>C (p.Asn764Thr) c.*774A>C (n.*774A>C) c.*2298A>C (n.*2298A>C) c.2048A>C (p.Asn683Thr) c.65A>C (p.Asn22Thr) c.124A>C c.1402-10185A>C (n.1402-10185A>C) c.2384A>C (p.Asn795Thr) c.2564A>C (p.Asn855Thr) c.2231A>C (p.Asn744Thr) | |
| 7 | g.117592641A>G | CA368981579 | CFTR | c.2474A>G (p.Asn825Ser) c.*2188A>G (n.*2188A>G) c.2291A>G (p.Asn764Ser) c.*774A>G (n.*774A>G) c.*2298A>G (n.*2298A>G) c.2048A>G (p.Asn683Ser) c.65A>G (p.Asn22Ser) c.124A>G c.1402-10185A>G (n.1402-10185A>G) c.2384A>G (p.Asn795Ser) c.2564A>G (p.Asn855Ser) c.2231A>G (p.Asn744Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592641A>T | CA368981583 | CFTR | c.2474A>T (p.Asn825Ile) c.*2188A>T (n.*2188A>T) c.2291A>T (p.Asn764Ile) c.*774A>T (n.*774A>T) c.*2298A>T (n.*2298A>T) c.2048A>T (p.Asn683Ile) c.65A>T (p.Asn22Ile) c.124A>T c.1402-10185A>T (n.1402-10185A>T) c.2384A>T (p.Asn795Ile) c.2564A>T (p.Asn855Ile) c.2231A>T (p.Asn744Ile) | |
| 7 | g.117592642C>A | CA368981587 | CFTR | c.2475C>A (p.Asn825Lys) c.*2189C>A (n.*2189C>A) c.2292C>A (p.Asn764Lys) c.*775C>A (n.*775C>A) c.*2299C>A (n.*2299C>A) c.2049C>A (p.Asn683Lys) c.66C>A (p.Asn22Lys) c.125C>A c.1402-10184C>A (n.1402-10184C>A) c.2385C>A (p.Asn795Lys) c.2565C>A (p.Asn855Lys) c.2232C>A (p.Asn744Lys) | gnomAD v4 |
| 7 | g.117592642C= | CA1737395751 | CFTR | c.2475C= (p.Asn825=) c.*2189C= (n.*2189C=) c.2292C= (p.Asn764=) c.*775C= (n.*775C=) c.*2299C= (n.*2299C=) c.2049C= (p.Asn683=) c.66C= (p.Asn22=) c.125C= c.1402-10184C= (n.1402-10184C=) c.2385C= (p.Asn795=) c.2565C= (p.Asn855=) c.2232C= (p.Asn744=) | |
| 7 | g.117592642C>G | CA368981589 | CFTR | c.2475C>G (p.Asn825Lys) c.*2189C>G (n.*2189C>G) c.2292C>G (p.Asn764Lys) c.*775C>G (n.*775C>G) c.*2299C>G (n.*2299C>G) c.2049C>G (p.Asn683Lys) c.66C>G (p.Asn22Lys) c.125C>G c.1402-10184C>G (n.1402-10184C>G) c.2385C>G (p.Asn795Lys) c.2565C>G (p.Asn855Lys) c.2232C>G (p.Asn744Lys) | |
| 7 | g.117592642C>T | CA4451186 | CFTR | c.2475C>T (p.Asn825=) c.*2189C>T (n.*2189C>T) c.2292C>T (p.Asn764=) c.*775C>T (n.*775C>T) c.*2299C>T (n.*2299C>T) c.2049C>T (p.Asn683=) c.66C>T (p.Asn22=) c.125C>T c.1402-10184C>T (n.1402-10184C>T) c.2385C>T (p.Asn795=) c.2565C>T (p.Asn855=) c.2232C>T (p.Asn744=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592643G>A | CA326824 | CFTR | c.2476G>A (p.Glu826Lys) c.*2190G>A (n.*2190G>A) c.2293G>A (p.Glu765Lys) c.*776G>A (n.*776G>A) c.*2300G>A (n.*2300G>A) c.2050G>A (p.Glu684Lys) c.67G>A (p.Glu23Lys) c.126G>A c.1402-10183G>A (n.1402-10183G>A) c.2386G>A (p.Glu796Lys) c.2566G>A (p.Glu856Lys) c.2233G>A (p.Glu745Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117592643G>C | CA368981599 | CFTR | c.2476G>C (p.Glu826Gln) c.*2190G>C (n.*2190G>C) c.2293G>C (p.Glu765Gln) c.*776G>C (n.*776G>C) c.*2300G>C (n.*2300G>C) c.2050G>C (p.Glu684Gln) c.67G>C (p.Glu23Gln) c.126G>C c.1402-10183G>C (n.1402-10183G>C) c.2386G>C (p.Glu796Gln) c.2566G>C (p.Glu856Gln) c.2233G>C (p.Glu745Gln) | |
| 7 | g.117592643G= | CA1737395756 | CFTR | c.2476G= (p.Glu826=) c.*2190G= (n.*2190G=) c.2293G= (p.Glu765=) c.*776G= (n.*776G=) c.*2300G= (n.*2300G=) c.2050G= (p.Glu684=) c.67G= (p.Glu23=) c.126G= c.1402-10183G= (n.1402-10183G=) c.2386G= (p.Glu796=) c.2566G= (p.Glu856=) c.2233G= (p.Glu745=) | |
| 7 | g.117592643G>T | CA368981594 | CFTR | c.2476G>T (p.Glu826Ter) c.*2190G>T (n.*2190G>T) c.2293G>T (p.Glu765Ter) c.*776G>T (n.*776G>T) c.*2300G>T (n.*2300G>T) c.2050G>T (p.Glu684Ter) c.67G>T (p.Glu23Ter) c.126G>T c.1402-10183G>T (n.1402-10183G>T) c.2386G>T (p.Glu796Ter) c.2566G>T (p.Glu856Ter) c.2233G>T (p.Glu745Ter) | ClinVar dbSNP |
| 7 | g.117592648_117592650del | CA2580614250 | CFTR | c.2481_2483del (p.Glu827del) c.*2195_*2197del (n.*2195_*2197del) c.2298_2300del (p.Glu766del) c.*781_*783del (n.*781_*783del) c.*2305_*2307del (n.*2305_*2307del) c.2055_2057del (p.Glu685del) c.72_74del (p.Glu24del) c.131_133del c.1402-10178_1402-10176del (n.1402-10178_1402-10176del) c.2391_2393del (p.Glu797del) c.2571_2573del (p.Glu857del) c.2238_2240del (p.Glu746del) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592644A>C | CA368981604 | CFTR | c.2477A>C (p.Glu826Ala) c.*2191A>C (n.*2191A>C) c.2294A>C (p.Glu765Ala) c.*777A>C (n.*777A>C) c.*2301A>C (n.*2301A>C) c.2051A>C (p.Glu684Ala) c.68A>C (p.Glu23Ala) c.127A>C c.1402-10182A>C (n.1402-10182A>C) c.2387A>C (p.Glu796Ala) c.2567A>C (p.Glu856Ala) c.2234A>C (p.Glu745Ala) | |
| 7 | g.117592644A>G | CA368981608 | CFTR | c.2477A>G (p.Glu826Gly) c.*2191A>G (n.*2191A>G) c.2294A>G (p.Glu765Gly) c.*777A>G (n.*777A>G) c.*2301A>G (n.*2301A>G) c.2051A>G (p.Glu684Gly) c.68A>G (p.Glu23Gly) c.127A>G c.1402-10182A>G (n.1402-10182A>G) c.2387A>G (p.Glu796Gly) c.2567A>G (p.Glu856Gly) c.2234A>G (p.Glu745Gly) | gnomAD v4 |
| 7 | g.117592644A>T | CA368981611 | CFTR | c.2477A>T (p.Glu826Val) c.*2191A>T (n.*2191A>T) c.2294A>T (p.Glu765Val) c.*777A>T (n.*777A>T) c.*2301A>T (n.*2301A>T) c.2051A>T (p.Glu684Val) c.68A>T (p.Glu23Val) c.127A>T c.1402-10182A>T (n.1402-10182A>T) c.2387A>T (p.Glu796Val) c.2567A>T (p.Glu856Val) c.2234A>T (p.Glu745Val) | |
| 7 | g.117592645A= | CA1737395764 | CFTR | c.2478A= (p.Glu826=) c.*2192A= (n.*2192A=) c.2295A= (p.Glu765=) c.*778A= (n.*778A=) c.*2302A= (n.*2302A=) c.2052A= (p.Glu684=) c.69A= (p.Glu23=) c.128A= c.1402-10181A= (n.1402-10181A=) c.2388A= (p.Glu796=) c.2568A= (p.Glu856=) c.2235A= (p.Glu745=) | |
| 7 | g.117592645A>C | CA4451187 | CFTR | c.2478A>C (p.Glu826Asp) c.*2192A>C (n.*2192A>C) c.2295A>C (p.Glu765Asp) c.*778A>C (n.*778A>C) c.*2302A>C (n.*2302A>C) c.2052A>C (p.Glu684Asp) c.69A>C (p.Glu23Asp) c.128A>C c.1402-10181A>C (n.1402-10181A>C) c.2388A>C (p.Glu796Asp) c.2568A>C (p.Glu856Asp) c.2235A>C (p.Glu745Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592645A>G | CA457448987 | CFTR | c.2478A>G (p.Glu826=) c.*2192A>G (n.*2192A>G) c.2295A>G (p.Glu765=) c.*778A>G (n.*778A>G) c.*2302A>G (n.*2302A>G) c.2052A>G (p.Glu684=) c.69A>G (p.Glu23=) c.128A>G c.1402-10181A>G (n.1402-10181A>G) c.2388A>G (p.Glu796=) c.2568A>G (p.Glu856=) c.2235A>G (p.Glu745=) | gnomAD v4 |
| 7 | g.117592645A>T | CA368981618 | CFTR | c.2478A>T (p.Glu826Asp) c.*2192A>T (n.*2192A>T) c.2295A>T (p.Glu765Asp) c.*778A>T (n.*778A>T) c.*2302A>T (n.*2302A>T) c.2052A>T (p.Glu684Asp) c.69A>T (p.Glu23Asp) c.128A>T c.1402-10181A>T (n.1402-10181A>T) c.2388A>T (p.Glu796Asp) c.2568A>T (p.Glu856Asp) c.2235A>T (p.Glu745Asp) | |
| 7 | g.117592646G>A | CA368981629 | CFTR | c.2479G>A (p.Glu827Lys) c.*2193G>A (n.*2193G>A) c.2296G>A (p.Glu766Lys) c.*779G>A (n.*779G>A) c.*2303G>A (n.*2303G>A) c.2053G>A (p.Glu685Lys) c.70G>A (p.Glu24Lys) c.129G>A c.1402-10180G>A (n.1402-10180G>A) c.2389G>A (p.Glu797Lys) c.2569G>A (p.Glu857Lys) c.2236G>A (p.Glu746Lys) | gnomAD v3 gnomAD v4 |
| 7 | g.117592646G>C | CA368981641 | CFTR | c.2479G>C (p.Glu827Gln) c.*2193G>C (n.*2193G>C) c.2296G>C (p.Glu766Gln) c.*779G>C (n.*779G>C) c.*2303G>C (n.*2303G>C) c.2053G>C (p.Glu685Gln) c.70G>C (p.Glu24Gln) c.129G>C c.1402-10180G>C (n.1402-10180G>C) c.2389G>C (p.Glu797Gln) c.2569G>C (p.Glu857Gln) c.2236G>C (p.Glu746Gln) | |
| 7 | g.117592646G= | CA1737395769 | CFTR | c.2479G= (p.Glu827=) c.*2193G= (n.*2193G=) c.2296G= (p.Glu766=) c.*779G= (n.*779G=) c.*2303G= (n.*2303G=) c.2053G= (p.Glu685=) c.70G= (p.Glu24=) c.129G= c.1402-10180G= (n.1402-10180G=) c.2389G= (p.Glu797=) c.2569G= (p.Glu857=) c.2236G= (p.Glu746=) | |
| 7 | g.117592646G>T | CA325553 | CFTR | c.2479G>T (p.Glu827Ter) c.*2193G>T (n.*2193G>T) c.2296G>T (p.Glu766Ter) c.*779G>T (n.*779G>T) c.*2303G>T (n.*2303G>T) c.2053G>T (p.Glu685Ter) c.70G>T (p.Glu24Ter) c.129G>T c.1402-10180G>T (n.1402-10180G>T) c.2389G>T (p.Glu797Ter) c.2569G>T (p.Glu857Ter) c.2236G>T (p.Glu746Ter) | ClinVar dbSNP |
| 7 | g.117592647A>C | CA368981648 | CFTR | c.2480A>C (p.Glu827Ala) c.*2194A>C (n.*2194A>C) c.2297A>C (p.Glu766Ala) c.*780A>C (n.*780A>C) c.*2304A>C (n.*2304A>C) c.2054A>C (p.Glu685Ala) c.71A>C (p.Glu24Ala) c.130A>C c.1402-10179A>C (n.1402-10179A>C) c.2390A>C (p.Glu797Ala) c.2570A>C (p.Glu857Ala) c.2237A>C (p.Glu746Ala) | |
| 7 | g.117592647A>G | CA368981651 | CFTR | c.2480A>G (p.Glu827Gly) c.*2194A>G (n.*2194A>G) c.2297A>G (p.Glu766Gly) c.*780A>G (n.*780A>G) c.*2304A>G (n.*2304A>G) c.2054A>G (p.Glu685Gly) c.71A>G (p.Glu24Gly) c.130A>G c.1402-10179A>G (n.1402-10179A>G) c.2390A>G (p.Glu797Gly) c.2570A>G (p.Glu857Gly) c.2237A>G (p.Glu746Gly) | |
| 7 | g.117592647A>T | CA368981654 | CFTR | c.2480A>T (p.Glu827Val) c.*2194A>T (n.*2194A>T) c.2297A>T (p.Glu766Val) c.*780A>T (n.*780A>T) c.*2304A>T (n.*2304A>T) c.2054A>T (p.Glu685Val) c.71A>T (p.Glu24Val) c.130A>T c.1402-10179A>T (n.1402-10179A>T) c.2390A>T (p.Glu797Val) c.2570A>T (p.Glu857Val) c.2237A>T (p.Glu746Val) | |
| 7 | g.117592650_117592657del | CA645541509 | CFTR | c.2483_2490del (p.Asp828GlyfsTer5) c.*2197_*2204del (n.*2197_*2204del) c.2300_2307del (p.Asp767GlyfsTer5) c.*783_*790del (n.*783_*790del) c.*2307_*2314del (n.*2307_*2314del) c.2057_2064del (p.Asp686GlyfsTer5) c.74_81del (p.Asp25GlyfsTer5) c.133_140del c.1402-10176_1402-10169del (n.1402-10176_1402-10169del) c.2393_2400del (p.Asp798GlyfsTer5) c.2573_2580del (p.Asp858GlyfsTer5) c.2240_2247del (p.Asp747GlyfsTer5) | COSMIC |
| 7 | g.117592648A>C | CA368981657 | CFTR | c.2481A>C (p.Glu827Asp) c.*2195A>C (n.*2195A>C) c.2298A>C (p.Glu766Asp) c.*781A>C (n.*781A>C) c.*2305A>C (n.*2305A>C) c.2055A>C (p.Glu685Asp) c.72A>C (p.Glu24Asp) c.131A>C c.1402-10178A>C (n.1402-10178A>C) c.2391A>C (p.Glu797Asp) c.2571A>C (p.Glu857Asp) c.2238A>C (p.Glu746Asp) | |
| 7 | g.117592648A>G | CA457448988 | CFTR | c.2481A>G (p.Glu827=) c.*2195A>G (n.*2195A>G) c.2298A>G (p.Glu766=) c.*781A>G (n.*781A>G) c.*2305A>G (n.*2305A>G) c.2055A>G (p.Glu685=) c.72A>G (p.Glu24=) c.131A>G c.1402-10178A>G (n.1402-10178A>G) c.2391A>G (p.Glu797=) c.2571A>G (p.Glu857=) c.2238A>G (p.Glu746=) | gnomAD v4 |
| 7 | g.117592648A>T | CA368981663 | CFTR | c.2481A>T (p.Glu827Asp) c.*2195A>T (n.*2195A>T) c.2298A>T (p.Glu766Asp) c.*781A>T (n.*781A>T) c.*2305A>T (n.*2305A>T) c.2055A>T (p.Glu685Asp) c.72A>T (p.Glu24Asp) c.131A>T c.1402-10178A>T (n.1402-10178A>T) c.2391A>T (p.Glu797Asp) c.2571A>T (p.Glu857Asp) c.2238A>T (p.Glu746Asp) | |
| 7 | g.117592648_117592649insT | CA2695208524 | CFTR | c.2481_2482insT (p.Asp828Ter) c.*2195_*2196insT (n.*2195_*2196insT) c.2298_2299insT (p.Asp767Ter) c.*781_*782insT (n.*781_*782insT) c.*2305_*2306insT (n.*2305_*2306insT) c.2055_2056insT (p.Asp686Ter) c.72_73insT (p.Asp25Ter) c.131_132insT c.1402-10178_1402-10177insT (n.1402-10178_1402-10177insT) c.2391_2392insT (p.Asp798Ter) c.2571_2572insT (p.Asp858Ter) c.2238_2239insT (p.Asp747Ter) | |
| 7 | g.117592649G>A | CA4451188 | CFTR | c.2482G>A (p.Asp828Asn) c.*2196G>A (n.*2196G>A) c.2299G>A (p.Asp767Asn) c.*782G>A (n.*782G>A) c.*2306G>A (n.*2306G>A) c.2056G>A (p.Asp686Asn) c.73G>A (p.Asp25Asn) c.132G>A c.1402-10177G>A (n.1402-10177G>A) c.2392G>A (p.Asp798Asn) c.2572G>A (p.Asp858Asn) c.2239G>A (p.Asp747Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592649G>C | CA368981672 | CFTR | c.2482G>C (p.Asp828His) c.*2196G>C (n.*2196G>C) c.2299G>C (p.Asp767His) c.*782G>C (n.*782G>C) c.*2306G>C (n.*2306G>C) c.2056G>C (p.Asp686His) c.73G>C (p.Asp25His) c.132G>C c.1402-10177G>C (n.1402-10177G>C) c.2392G>C (p.Asp798His) c.2572G>C (p.Asp858His) c.2239G>C (p.Asp747His) | |
| 7 | g.117592649G= | CA1737395774 | CFTR | c.2482G= (p.Asp828=) c.*2196G= (n.*2196G=) c.2299G= (p.Asp767=) c.*782G= (n.*782G=) c.*2306G= (n.*2306G=) c.2056G= (p.Asp686=) c.73G= (p.Asp25=) c.132G= c.1402-10177G= (n.1402-10177G=) c.2392G= (p.Asp798=) c.2572G= (p.Asp858=) c.2239G= (p.Asp747=) | |
| 7 | g.117592649G>T | CA368981670 | CFTR | c.2482G>T (p.Asp828Tyr) c.*2196G>T (n.*2196G>T) c.2299G>T (p.Asp767Tyr) c.*782G>T (n.*782G>T) c.*2306G>T (n.*2306G>T) c.2056G>T (p.Asp686Tyr) c.73G>T (p.Asp25Tyr) c.132G>T c.1402-10177G>T (n.1402-10177G>T) c.2392G>T (p.Asp798Tyr) c.2572G>T (p.Asp858Tyr) c.2239G>T (p.Asp747Tyr) | gnomAD v4 |
| 7 | g.117592650A= | CA1737395780 | CFTR | c.2483A= (p.Asp828=) c.*2197A= (n.*2197A=) c.2300A= (p.Asp767=) c.*783A= (n.*783A=) c.*2307A= (n.*2307A=) c.2057A= (p.Asp686=) c.74A= (p.Asp25=) c.133A= c.1402-10176A= (n.1402-10176A=) c.2393A= (p.Asp798=) c.2573A= (p.Asp858=) c.2240A= (p.Asp747=) | |
| 7 | g.117592650A>C | CA368981678 | CFTR | c.2483A>C (p.Asp828Ala) c.*2197A>C (n.*2197A>C) c.2300A>C (p.Asp767Ala) c.*783A>C (n.*783A>C) c.*2307A>C (n.*2307A>C) c.2057A>C (p.Asp686Ala) c.74A>C (p.Asp25Ala) c.133A>C c.1402-10176A>C (n.1402-10176A>C) c.2393A>C (p.Asp798Ala) c.2573A>C (p.Asp858Ala) c.2240A>C (p.Asp747Ala) | |
| 7 | g.117592650A>G | CA164948434 | CFTR | c.2483A>G (p.Asp828Gly) c.*2197A>G (n.*2197A>G) c.2300A>G (p.Asp767Gly) c.*783A>G (n.*783A>G) c.*2307A>G (n.*2307A>G) c.2057A>G (p.Asp686Gly) c.74A>G (p.Asp25Gly) c.133A>G c.1402-10176A>G (n.1402-10176A>G) c.2393A>G (p.Asp798Gly) c.2573A>G (p.Asp858Gly) c.2240A>G (p.Asp747Gly) | ClinVar dbSNP gnomAD v4 |