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 |
|---|---|---|---|---|---|
| 17 | g.31226907_31229806del | CA10602510 | NF1 | c.2296+223_2896-29del c.2281+223_2881-29del c.2251+223_2851-29del c.1249+223_1849-29del n.418+223_1358del c.2026+223_2626-29del c.2353+223_2953-29del c.2242+223_2842-29del c.2278+223_2878-29del | |
| 17 | g.31228914_31229530delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT | CA2255564286 | NF1 | c.2455-111_2895+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2440-111_2880+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2410-111_2850+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.1408-111_1848+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT n.577-111_1082delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2185-111_2625+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2512-111_2952+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2401-111_2841+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2437-111_2877+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT | |
| 17 | g.31228915_31229530delinsAAAA | CA277589 | NF1 | c.2455-110_2895+65delinsAAAA c.2440-110_2880+65delinsAAAA c.2410-110_2850+65delinsAAAA c.1408-110_1848+65delinsAAAA n.577-110_1082delinsAAAA c.2185-110_2625+65delinsAAAA c.2512-110_2952+65delinsAAAA c.2401-110_2841+65delinsAAAA c.2437-110_2877+65delinsAAAA | ClinVar dbSNP |
| 17 | g.31229039_31229104delinsTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGA | CA2255564461 | NF1 | c.2469_2534delinsTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGA (p.Leu823=) c.2454_2519delinsTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGA (p.Leu818=) c.2424_2489delinsTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGA (p.Leu808=) c.1422_1487delinsTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGA (p.Leu474=) n.591_656delinsTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGA c.2199_2264delinsTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGA c.2526_2591delinsTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGA (p.Leu842=) c.2415_2480delinsTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGA (p.Leu805=) c.2451_2516delinsTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGA (p.Leu817=) | |
| 17 | g.31229044_31229108del | CA915949778 | NF1 | c.2474_2538del (p.Lys825ArgfsTer?) c.2459_2523del (p.Lys820ArgfsTer?) c.2429_2493del (p.Lys810ArgfsTer?) c.1427_1491del (p.Lys476ArgfsTer?) n.596_660del c.2204_2268del c.2531_2595del (p.Lys844ArgfsTer?) c.2420_2484del (p.Lys807ArgfsTer?) c.2456_2520del (p.Lys819ArgfsTer?) | ClinVar dbSNP |
| 17 | g.31229051_31229072del | CA2695225358 | NF1 | c.2481_2502del (p.Ile827MetfsTer2) c.2466_2487del (p.Ile822MetfsTer2) c.2436_2457del (p.Ile812MetfsTer2) c.1434_1455del (p.Ile478MetfsTer2) n.603_624del c.2211_2232del c.2538_2559del (p.Ile846MetfsTer2) c.2427_2448del (p.Ile809MetfsTer2) c.2463_2484del (p.Ile821MetfsTer2) | |
| 17 | g.31229048_31229049delinsCA | CA2255564463 | NF1 | c.2478_2479delinsCA (p.Thr826=) c.2463_2464delinsCA (p.Thr821=) c.2433_2434delinsCA (p.Thr811=) c.1431_1432delinsCA (p.Thr477=) n.600_601delinsCA c.2208_2209delinsCA c.2535_2536delinsCA (p.Thr845=) c.2424_2425delinsCA (p.Thr808=) c.2460_2461delinsCA (p.Thr820=) | |
| 17 | g.31229049del | CA891844371 | NF1 | c.2479del (p.Ile827LeufsTer9) c.2464del (p.Ile822LeufsTer9) c.2434del (p.Ile812LeufsTer9) c.1432del (p.Ile478LeufsTer9) n.601del c.2209del c.2536del (p.Ile846LeufsTer9) c.2425del (p.Ile809LeufsTer9) c.2461del (p.Ile821LeufsTer9) | ClinVar dbSNP |
| 17 | g.31229049A= | CA2255564471 | NF1 | c.2479A= (p.Ile827=) c.2464A= (p.Ile822=) c.2434A= (p.Ile812=) c.1432A= (p.Ile478=) n.601A= c.2209A= c.2536A= (p.Ile846=) c.2425A= (p.Ile809=) c.2461A= (p.Ile821=) | |
| 17 | g.31229049A>C | CA166008 | NF1 | c.2479A>C (p.Ile827Leu) c.2464A>C (p.Ile822Leu) c.2434A>C (p.Ile812Leu) c.1432A>C (p.Ile478Leu) n.601A>C c.2209A>C c.2536A>C (p.Ile846Leu) c.2425A>C (p.Ile809Leu) c.2461A>C (p.Ile821Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.31229049A>G | CA10580254 | NF1 | c.2479A>G (p.Ile827Val) c.2464A>G (p.Ile822Val) c.2434A>G (p.Ile812Val) c.1432A>G (p.Ile478Val) n.601A>G c.2209A>G c.2536A>G (p.Ile846Val) c.2425A>G (p.Ile809Val) c.2461A>G (p.Ile821Val) | ClinVar dbSNP |
| 17 | g.31229049A>T | CA398983868 | NF1 | c.2479A>T (p.Ile827Phe) c.2464A>T (p.Ile822Phe) c.2434A>T (p.Ile812Phe) c.1432A>T (p.Ile478Phe) n.601A>T c.2209A>T c.2536A>T (p.Ile846Phe) c.2425A>T (p.Ile809Phe) c.2461A>T (p.Ile821Phe) | dbSNP |
| 17 | g.31229050T>A | CA398983870 | NF1 | c.2480T>A (p.Ile827Asn) c.2465T>A (p.Ile822Asn) c.2435T>A (p.Ile812Asn) c.1433T>A (p.Ile478Asn) n.602T>A c.2210T>A c.2537T>A (p.Ile846Asn) c.2426T>A (p.Ile809Asn) c.2462T>A (p.Ile821Asn) | dbSNP |
| 17 | g.31229050T>C | CA398983873 | NF1 | c.2480T>C (p.Ile827Thr) c.2465T>C (p.Ile822Thr) c.2435T>C (p.Ile812Thr) c.1433T>C (p.Ile478Thr) n.602T>C c.2210T>C c.2537T>C (p.Ile846Thr) c.2426T>C (p.Ile809Thr) c.2462T>C (p.Ile821Thr) | |
| 17 | g.31229050T>G | CA398983872 | NF1 | c.2480T>G (p.Ile827Ser) c.2465T>G (p.Ile822Ser) c.2435T>G (p.Ile812Ser) c.1433T>G (p.Ile478Ser) n.602T>G c.2210T>G c.2537T>G (p.Ile846Ser) c.2426T>G (p.Ile809Ser) c.2462T>G (p.Ile821Ser) | |
| 17 | g.31229051T>A | CA499444079 | NF1 | c.2481T>A (p.Ile827=) c.2466T>A (p.Ile822=) c.2436T>A (p.Ile812=) c.1434T>A (p.Ile478=) n.603T>A c.2211T>A c.2538T>A (p.Ile846=) c.2427T>A (p.Ile809=) c.2463T>A (p.Ile821=) | dbSNP |
| 17 | g.31229051T>C | CA499444080 | NF1 | c.2481T>C (p.Ile827=) c.2466T>C (p.Ile822=) c.2436T>C (p.Ile812=) c.1434T>C (p.Ile478=) n.603T>C c.2211T>C c.2538T>C (p.Ile846=) c.2427T>C (p.Ile809=) c.2463T>C (p.Ile821=) | ClinVar |
| 17 | g.31229051T>G | CA398983875 | NF1 | c.2481T>G (p.Ile827Met) c.2466T>G (p.Ile822Met) c.2436T>G (p.Ile812Met) c.1434T>G (p.Ile478Met) n.603T>G c.2211T>G c.2538T>G (p.Ile846Met) c.2427T>G (p.Ile809Met) c.2463T>G (p.Ile821Met) | |
| 17 | g.31229052del | CA2637082449 | NF1 | c.2482del (p.Val828LeufsTer8) c.2467del (p.Val823LeufsTer8) c.2437del (p.Val813LeufsTer8) c.1435del (p.Val479LeufsTer8) n.604del c.2212del c.2539del (p.Val847LeufsTer8) c.2428del (p.Val810LeufsTer8) c.2464del (p.Val822LeufsTer8) | gnomAD v4 |
| 17 | g.31229052G>A | CA10583485 | NF1 | c.2482G>A (p.Val828Ile) c.2467G>A (p.Val823Ile) c.2437G>A (p.Val813Ile) c.1435G>A (p.Val479Ile) n.604G>A c.2212G>A c.2539G>A (p.Val847Ile) c.2428G>A (p.Val810Ile) c.2464G>A (p.Val822Ile) | ClinVar dbSNP |
| 17 | g.31229052G>C | CA398983878 | NF1 | c.2482G>C (p.Val828Leu) c.2467G>C (p.Val823Leu) c.2437G>C (p.Val813Leu) c.1435G>C (p.Val479Leu) n.604G>C c.2212G>C c.2539G>C (p.Val847Leu) c.2428G>C (p.Val810Leu) c.2464G>C (p.Val822Leu) | dbSNP |
| 17 | g.31229052G= | CA2255564477 | NF1 | c.2482G= (p.Val828=) c.2467G= (p.Val823=) c.2437G= (p.Val813=) c.1435G= (p.Val479=) n.604G= c.2212G= c.2539G= (p.Val847=) c.2428G= (p.Val810=) c.2464G= (p.Val822=) | |
| 17 | g.31229052G>T | CA398983879 | NF1 | c.2482G>T (p.Val828Phe) c.2467G>T (p.Val823Phe) c.2437G>T (p.Val813Phe) c.1435G>T (p.Val479Phe) n.604G>T c.2212G>T c.2539G>T (p.Val847Phe) c.2428G>T (p.Val810Phe) c.2464G>T (p.Val822Phe) | |
| 17 | g.31229053T>A | CA398983881 | NF1 | c.2483T>A (p.Val828Asp) c.2468T>A (p.Val823Asp) c.2438T>A (p.Val813Asp) c.1436T>A (p.Val479Asp) n.605T>A c.2213T>A c.2540T>A (p.Val847Asp) c.2429T>A (p.Val810Asp) c.2465T>A (p.Val822Asp) | dbSNP |
| 17 | g.31229053T>C | CA398983883 | NF1 | c.2483T>C (p.Val828Ala) c.2468T>C (p.Val823Ala) c.2438T>C (p.Val813Ala) c.1436T>C (p.Val479Ala) n.605T>C c.2213T>C c.2540T>C (p.Val847Ala) c.2429T>C (p.Val810Ala) c.2465T>C (p.Val822Ala) | |
| 17 | g.31229053T>G | CA398983885 | NF1 | c.2483T>G (p.Val828Gly) c.2468T>G (p.Val823Gly) c.2438T>G (p.Val813Gly) c.1436T>G (p.Val479Gly) n.605T>G c.2213T>G c.2540T>G (p.Val847Gly) c.2429T>G (p.Val810Gly) c.2465T>G (p.Val822Gly) | dbSNP |
| 17 | g.31229053_31229054delinsA | CA2695225359 | NF1 | c.2483_2484delinsA (p.Val828GlufsTer8) c.2468_2469delinsA (p.Val823GlufsTer8) c.2438_2439delinsA (p.Val813GlufsTer8) c.1436_1437delinsA (p.Val479GlufsTer8) n.605_606delinsA c.2213_2214delinsA c.2540_2541delinsA (p.Val847GlufsTer8) c.2429_2430delinsA (p.Val810GlufsTer8) c.2465_2466delinsA (p.Val822GlufsTer8) | |
| 17 | g.31229054T>A | CA499444083 | NF1 | c.2484T>A (p.Val828=) c.2469T>A (p.Val823=) c.2439T>A (p.Val813=) c.1437T>A (p.Val479=) n.606T>A c.2214T>A c.2541T>A (p.Val847=) c.2430T>A (p.Val810=) c.2466T>A (p.Val822=) | ClinVar |
| 17 | g.31229054T>C | CA499444084 | NF1 | c.2484T>C (p.Val828=) c.2469T>C (p.Val823=) c.2439T>C (p.Val813=) c.1437T>C (p.Val479=) n.606T>C c.2214T>C c.2541T>C (p.Val847=) c.2430T>C (p.Val810=) c.2466T>C (p.Val822=) | |
| 17 | g.31229054T>G | CA499444085 | NF1 | c.2484T>G (p.Val828=) c.2469T>G (p.Val823=) c.2439T>G (p.Val813=) c.1437T>G (p.Val479=) n.606T>G c.2214T>G c.2541T>G (p.Val847=) c.2430T>G (p.Val810=) c.2466T>G (p.Val822=) | |
| 17 | g.31229054T= | CA2255564482 | NF1 | c.2484T= (p.Val828=) c.2469T= (p.Val823=) c.2439T= (p.Val813=) c.1437T= (p.Val479=) n.606T= c.2214T= c.2541T= (p.Val847=) c.2430T= (p.Val810=) c.2466T= (p.Val822=) | |
| 17 | g.31229054_31229055insG | CA1139665431 | NF1 | c.2484_2485insG (p.Lys829GlufsTer17) c.2469_2470insG (p.Lys824GlufsTer17) c.2439_2440insG (p.Lys814GlufsTer17) c.1437_1438insG (p.Lys480GlufsTer17) n.606_607insG c.2214_2215insG c.2541_2542insG (p.Lys848GlufsTer17) c.2430_2431insG (p.Lys811GlufsTer17) c.2466_2467insG (p.Lys823GlufsTer17) | ClinVar dbSNP |
| 17 | g.31229055A= | CA2255564488 | NF1 | c.2485A= (p.Lys829=) c.2470A= (p.Lys824=) c.2440A= (p.Lys814=) c.1438A= (p.Lys480=) n.607A= c.2215A= c.2542A= (p.Lys848=) c.2431A= (p.Lys811=) c.2467A= (p.Lys823=) | |
| 17 | g.31229055A>C | CA398983886 | NF1 | c.2485A>C (p.Lys829Gln) c.2470A>C (p.Lys824Gln) c.2440A>C (p.Lys814Gln) c.1438A>C (p.Lys480Gln) n.607A>C c.2215A>C c.2542A>C (p.Lys848Gln) c.2431A>C (p.Lys811Gln) c.2467A>C (p.Lys823Gln) | |
| 17 | g.31229055A>G | CA398983888 | NF1 | c.2485A>G (p.Lys829Glu) c.2470A>G (p.Lys824Glu) c.2440A>G (p.Lys814Glu) c.1438A>G (p.Lys480Glu) n.607A>G c.2215A>G c.2542A>G (p.Lys848Glu) c.2431A>G (p.Lys811Glu) c.2467A>G (p.Lys823Glu) | ClinVar dbSNP |
| 17 | g.31229055A>T | CA398983889 | NF1 | c.2485A>T (p.Lys829Ter) c.2470A>T (p.Lys824Ter) c.2440A>T (p.Lys814Ter) c.1438A>T (p.Lys480Ter) n.607A>T c.2215A>T c.2542A>T (p.Lys848Ter) c.2431A>T (p.Lys811Ter) c.2467A>T (p.Lys823Ter) | ClinVar dbSNP |
| 17 | g.31229056dup | CA2580093253 | NF1 | c.2486dup (p.Arg830GlufsTer16) c.2471dup (p.Arg825GlufsTer16) c.2441dup (p.Arg815GlufsTer16) c.1439dup (p.Arg481GlufsTer16) n.608dup c.2216dup c.2543dup (p.Arg849GlufsTer16) c.2432dup (p.Arg812GlufsTer16) c.2468dup (p.Arg824GlufsTer16) | ClinVar |
| 17 | g.31229056del | CA2695225360 | NF1 | c.2486del (p.Lys829ArgfsTer7) c.2471del (p.Lys824ArgfsTer7) c.2441del (p.Lys814ArgfsTer7) c.1439del (p.Lys480ArgfsTer7) n.608del c.2216del c.2543del (p.Lys848ArgfsTer7) c.2432del (p.Lys811ArgfsTer7) c.2468del (p.Lys823ArgfsTer7) | |
| 17 | g.31229056A= | CA2255564498 | NF1 | c.2486A= (p.Lys829=) c.2471A= (p.Lys824=) c.2441A= (p.Lys814=) c.1439A= (p.Lys480=) n.608A= c.2216A= c.2543A= (p.Lys848=) c.2432A= (p.Lys811=) c.2468A= (p.Lys823=) | |
| 17 | g.31229056A>C | CA398983894 | NF1 | c.2486A>C (p.Lys829Thr) c.2471A>C (p.Lys824Thr) c.2441A>C (p.Lys814Thr) c.1439A>C (p.Lys480Thr) n.608A>C c.2216A>C c.2543A>C (p.Lys848Thr) c.2432A>C (p.Lys811Thr) c.2468A>C (p.Lys823Thr) | ClinVar dbSNP |
| 17 | g.31229056A>G | CA398983893 | NF1 | c.2486A>G (p.Lys829Arg) c.2471A>G (p.Lys824Arg) c.2441A>G (p.Lys814Arg) c.1439A>G (p.Lys480Arg) n.608A>G c.2216A>G c.2543A>G (p.Lys848Arg) c.2432A>G (p.Lys811Arg) c.2468A>G (p.Lys823Arg) | dbSNP |
| 17 | g.31229056A>T | CA398983891 | NF1 | c.2486A>T (p.Lys829Met) c.2471A>T (p.Lys824Met) c.2441A>T (p.Lys814Met) c.1439A>T (p.Lys480Met) n.608A>T c.2216A>T c.2543A>T (p.Lys848Met) c.2432A>T (p.Lys811Met) c.2468A>T (p.Lys823Met) | ClinVar dbSNP |
| 17 | g.31229057G>A | CA499444089 | NF1 | c.2487G>A (p.Lys829=) c.2472G>A (p.Lys824=) c.2442G>A (p.Lys814=) c.1440G>A (p.Lys480=) n.609G>A c.2217G>A c.2544G>A (p.Lys848=) c.2433G>A (p.Lys811=) c.2469G>A (p.Lys823=) | dbSNP |
| 17 | g.31229057G>C | CA398983896 | NF1 | c.2487G>C (p.Lys829Asn) c.2472G>C (p.Lys824Asn) c.2442G>C (p.Lys814Asn) c.1440G>C (p.Lys480Asn) n.609G>C c.2217G>C c.2544G>C (p.Lys848Asn) c.2433G>C (p.Lys811Asn) c.2469G>C (p.Lys823Asn) | dbSNP |
| 17 | g.31229057G>T | CA398983898 | NF1 | c.2487G>T (p.Lys829Asn) c.2472G>T (p.Lys824Asn) c.2442G>T (p.Lys814Asn) c.1440G>T (p.Lys480Asn) n.609G>T c.2217G>T c.2544G>T (p.Lys848Asn) c.2433G>T (p.Lys811Asn) c.2469G>T (p.Lys823Asn) | gnomAD v4 |
| 17 | g.31229057_31229058insGG | CA645571271 | NF1 | c.2487_2488insGG (p.Arg830GlyfsTer7) c.2472_2473insGG (p.Arg825GlyfsTer7) c.2442_2443insGG (p.Arg815GlyfsTer7) c.1440_1441insGG (p.Arg481GlyfsTer7) n.609_610insGG c.2217_2218insGG c.2544_2545insGG (p.Arg849GlyfsTer7) c.2433_2434insGG (p.Arg812GlyfsTer7) c.2469_2470insGG (p.Arg824GlyfsTer7) | COSMIC COSMIC |
| 17 | g.31229058del | CA2573130312 | NF1 | c.2488del (p.Arg830GlyfsTer6) c.2473del (p.Arg825GlyfsTer6) c.2443del (p.Arg815GlyfsTer6) c.1441del (p.Arg481GlyfsTer6) n.610del c.2218del c.2545del (p.Arg849GlyfsTer6) c.2434del (p.Arg812GlyfsTer6) c.2470del (p.Arg824GlyfsTer6) | ClinVar dbSNP |
| 17 | g.31229058A>C | CA499444090 | NF1 | c.2488A>C (p.Arg830=) c.2473A>C (p.Arg825=) c.2443A>C (p.Arg815=) c.1441A>C (p.Arg481=) n.610A>C c.2218A>C c.2545A>C (p.Arg849=) c.2434A>C (p.Arg812=) c.2470A>C (p.Arg824=) | |
| 17 | g.31229058A>G | CA398983900 | NF1 | c.2488A>G (p.Arg830Gly) c.2473A>G (p.Arg825Gly) c.2443A>G (p.Arg815Gly) c.1441A>G (p.Arg481Gly) n.610A>G c.2218A>G c.2545A>G (p.Arg849Gly) c.2434A>G (p.Arg812Gly) c.2470A>G (p.Arg824Gly) | ClinVar |
| 17 | g.31229058A>T | CA398983901 | NF1 | c.2488A>T (p.Arg830Trp) c.2473A>T (p.Arg825Trp) c.2443A>T (p.Arg815Trp) c.1441A>T (p.Arg481Trp) n.610A>T c.2218A>T c.2545A>T (p.Arg849Trp) c.2434A>T (p.Arg812Trp) c.2470A>T (p.Arg824Trp) | dbSNP |