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.31229094_31229105delinsGATTTGTCTGAC | CA2255564699 | NF1 | c.2524_2535delinsGATTTGTCTGAC (p.Asp842=) c.2509_2520delinsGATTTGTCTGAC (p.Asp837=) c.2479_2490delinsGATTTGTCTGAC (p.Asp827=) c.1477_1488delinsGATTTGTCTGAC (p.Asp493=) n.646_657delinsGATTTGTCTGAC c.2254_2265delinsGATTTGTCTGAC c.2581_2592delinsGATTTGTCTGAC (p.Asp861=) c.2470_2481delinsGATTTGTCTGAC (p.Asp824=) c.2506_2517delinsGATTTGTCTGAC (p.Asp836=) | |
| 17 | g.31229096_31229106del | CA916080614 | NF1 | c.2526_2536del (p.Leu843ArgfsTer?) c.2511_2521del (p.Leu838ArgfsTer?) c.2481_2491del (p.Leu828ArgfsTer?) c.1479_1489del (p.Leu494ArgfsTer?) n.648_658del c.2256_2266del c.2583_2593del (p.Leu862ArgfsTer?) c.2472_2482del (p.Leu825ArgfsTer?) c.2508_2518del (p.Leu837ArgfsTer?) | ClinVar dbSNP |
| 17 | g.31229098_31229108delinsTGTCTGACACA | CA2255564717 | NF1 | c.2528_2538delinsTGTCTGACACA (p.Leu843=) c.2513_2523delinsTGTCTGACACA (p.Leu838=) c.2483_2493delinsTGTCTGACACA (p.Leu828=) c.1481_1491delinsTGTCTGACACA (p.Leu494=) n.650_660delinsTGTCTGACACA c.2258_2268delinsTGTCTGACACA c.2585_2595delinsTGTCTGACACA (p.Leu862=) c.2474_2484delinsTGTCTGACACA (p.Leu825=) c.2510_2520delinsTGTCTGACACA (p.Leu837=) | |
| 17 | g.31229100_31229109del | CA1139665433 | NF1 | c.2530_2539del (p.Ser844ThrfsTer9) c.2515_2524del (p.Ser839ThrfsTer9) c.2485_2494del (p.Ser829ThrfsTer9) c.1483_1492del (p.Ser495ThrfsTer9) n.652_661del c.2260_2269del c.2587_2596del (p.Ser863ThrfsTer9) c.2476_2485del (p.Ser826ThrfsTer9) c.2512_2521del (p.Ser838ThrfsTer9) | ClinVar dbSNP |
| 17 | g.31229104A>C | CA398984055 | NF1 | c.2534A>C (p.Asp845Ala) c.2519A>C (p.Asp840Ala) c.2489A>C (p.Asp830Ala) c.1487A>C (p.Asp496Ala) n.656A>C c.2264A>C c.2591A>C (p.Asp864Ala) c.2480A>C (p.Asp827Ala) c.2516A>C (p.Asp839Ala) | |
| 17 | g.31229104A>G | CA398984057 | NF1 | c.2534A>G (p.Asp845Gly) c.2519A>G (p.Asp840Gly) c.2489A>G (p.Asp830Gly) c.1487A>G (p.Asp496Gly) n.656A>G c.2264A>G c.2591A>G (p.Asp864Gly) c.2480A>G (p.Asp827Gly) c.2516A>G (p.Asp839Gly) | dbSNP |
| 17 | g.31229104A>T | CA398984058 | NF1 | c.2534A>T (p.Asp845Val) c.2519A>T (p.Asp840Val) c.2489A>T (p.Asp830Val) c.1487A>T (p.Asp496Val) n.656A>T c.2264A>T c.2591A>T (p.Asp864Val) c.2480A>T (p.Asp827Val) c.2516A>T (p.Asp839Val) | dbSNP |
| 17 | g.31229107_31229108dup | CA2695225364 | NF1 | c.2537_2538dup (p.Asp847GlnfsTer10) c.2522_2523dup (p.Asp842GlnfsTer10) c.2492_2493dup (p.Asp832GlnfsTer10) c.1490_1491dup (p.Asp498GlnfsTer10) n.659_660dup c.2267_2268dup c.2594_2595dup (p.Asp866GlnfsTer10) c.2483_2484dup (p.Asp829GlnfsTer10) c.2519_2520dup (p.Asp841GlnfsTer10) | |
| 17 | g.31229107_31229108del | CA2580614088 | NF1 | c.2537_2538del (p.Thr846ArgfsTer?) c.2522_2523del (p.Thr841ArgfsTer?) c.2492_2493del (p.Thr831ArgfsTer?) c.1490_1491del (p.Thr497ArgfsTer?) n.659_660del c.2267_2268del c.2594_2595del (p.Thr865ArgfsTer?) c.2483_2484del (p.Thr828ArgfsTer?) c.2519_2520del (p.Thr840ArgfsTer?) | ClinVar |
| 17 | g.31229105C>A | CA398984059 | NF1 | c.2535C>A (p.Asp845Glu) c.2520C>A (p.Asp840Glu) c.2490C>A (p.Asp830Glu) c.1488C>A (p.Asp496Glu) n.657C>A c.2265C>A c.2592C>A (p.Asp864Glu) c.2481C>A (p.Asp827Glu) c.2517C>A (p.Asp839Glu) | dbSNP |
| 17 | g.31229105C= | CA2255564738 | NF1 | c.2535C= (p.Asp845=) c.2520C= (p.Asp840=) c.2490C= (p.Asp830=) c.1488C= (p.Asp496=) n.657C= c.2265C= c.2592C= (p.Asp864=) c.2481C= (p.Asp827=) c.2517C= (p.Asp839=) | |
| 17 | g.31229105C>G | CA398984061 | NF1 | c.2535C>G (p.Asp845Glu) c.2520C>G (p.Asp840Glu) c.2490C>G (p.Asp830Glu) c.1488C>G (p.Asp496Glu) n.657C>G c.2265C>G c.2592C>G (p.Asp864Glu) c.2481C>G (p.Asp827Glu) c.2517C>G (p.Asp839Glu) | dbSNP |
| 17 | g.31229105C>T | CA189755 | NF1 | c.2535C>T (p.Asp845=) c.2520C>T (p.Asp840=) c.2490C>T (p.Asp830=) c.1488C>T (p.Asp496=) n.657C>T c.2265C>T c.2592C>T (p.Asp864=) c.2481C>T (p.Asp827=) c.2517C>T (p.Asp839=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.31229106del | CA2580093265 | NF1 | c.2536del (p.Thr846GlnfsTer10) c.2521del (p.Thr841GlnfsTer10) c.2491del (p.Thr831GlnfsTer10) c.1489del (p.Thr497GlnfsTer10) n.658del c.2266del c.2593del (p.Thr865GlnfsTer10) c.2482del (p.Thr828GlnfsTer10) c.2518del (p.Thr840GlnfsTer10) | ClinVar |
| 17 | g.31229106A= | CA2255564747 | NF1 | c.2536A= (p.Thr846=) c.2521A= (p.Thr841=) c.2491A= (p.Thr831=) c.1489A= (p.Thr497=) n.658A= c.2266A= c.2593A= (p.Thr865=) c.2482A= (p.Thr828=) c.2518A= (p.Thr840=) | |
| 17 | g.31229106A>C | CA398984063 | NF1 | c.2536A>C (p.Thr846Pro) c.2521A>C (p.Thr841Pro) c.2491A>C (p.Thr831Pro) c.1489A>C (p.Thr497Pro) n.658A>C c.2266A>C c.2593A>C (p.Thr865Pro) c.2482A>C (p.Thr828Pro) c.2518A>C (p.Thr840Pro) | dbSNP |
| 17 | g.31229106A>G | CA398984064 | NF1 | c.2536A>G (p.Thr846Ala) c.2521A>G (p.Thr841Ala) c.2491A>G (p.Thr831Ala) c.1489A>G (p.Thr497Ala) n.658A>G c.2266A>G c.2593A>G (p.Thr865Ala) c.2482A>G (p.Thr828Ala) c.2518A>G (p.Thr840Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31229106A>T | CA398984065 | NF1 | c.2536A>T (p.Thr846Ser) c.2521A>T (p.Thr841Ser) c.2491A>T (p.Thr831Ser) c.1489A>T (p.Thr497Ser) n.658A>T c.2266A>T c.2593A>T (p.Thr865Ser) c.2482A>T (p.Thr828Ser) c.2518A>T (p.Thr840Ser) | dbSNP |
| 17 | g.31229106_31229108delinsACA | CA2255564744 | NF1 | c.2536_2538delinsACA (p.Thr846=) c.2521_2523delinsACA (p.Thr841=) c.2491_2493delinsACA (p.Thr831=) c.1489_1491delinsACA (p.Thr497=) n.658_660delinsACA c.2266_2268delinsACA c.2593_2595delinsACA (p.Thr865=) c.2482_2484delinsACA (p.Thr828=) c.2518_2520delinsACA (p.Thr840=) | |
| 17 | g.31229106_31229107insGGTGTATCTGCGTTTCCCT | CA2809190977 | NF1 | c.2536_2537insGGTGTATCTGCGTTTCCCT (p.Thr846ArgfsTer?) c.2521_2522insGGTGTATCTGCGTTTCCCT (p.Thr841ArgfsTer?) c.2491_2492insGGTGTATCTGCGTTTCCCT (p.Thr831ArgfsTer?) c.1489_1490insGGTGTATCTGCGTTTCCCT (p.Thr497ArgfsTer?) n.658_659insGGTGTATCTGCGTTTCCCT c.2266_2267insGGTGTATCTGCGTTTCCCT c.2593_2594insGGTGTATCTGCGTTTCCCT (p.Thr865ArgfsTer?) c.2482_2483insGGTGTATCTGCGTTTCCCT (p.Thr828ArgfsTer?) c.2518_2519insGGTGTATCTGCGTTTCCCT (p.Thr840ArgfsTer?) | |
| 17 | g.31229107C>A | CA398984068 | NF1 | c.2537C>A (p.Thr846Lys) c.2522C>A (p.Thr841Lys) c.2492C>A (p.Thr831Lys) c.1490C>A (p.Thr497Lys) n.659C>A c.2267C>A c.2594C>A (p.Thr865Lys) c.2483C>A (p.Thr828Lys) c.2519C>A (p.Thr840Lys) | dbSNP |
| 17 | g.31229107C>G | CA398984069 | NF1 | c.2537C>G (p.Thr846Arg) c.2522C>G (p.Thr841Arg) c.2492C>G (p.Thr831Arg) c.1490C>G (p.Thr497Arg) n.659C>G c.2267C>G c.2594C>G (p.Thr865Arg) c.2483C>G (p.Thr828Arg) c.2519C>G (p.Thr840Arg) | dbSNP |
| 17 | g.31229107C>T | CA398984071 | NF1 | c.2537C>T (p.Thr846Ile) c.2522C>T (p.Thr841Ile) c.2492C>T (p.Thr831Ile) c.1490C>T (p.Thr497Ile) n.659C>T c.2267C>T c.2594C>T (p.Thr865Ile) c.2483C>T (p.Thr828Ile) c.2519C>T (p.Thr840Ile) | ClinVar dbSNP |
| 17 | g.31229107_31229108delinsAATCT | CA915949783 | NF1 | c.2537_2538delinsAATCT (p.Thr846delinsLysSer) c.2522_2523delinsAATCT (p.Thr841delinsLysSer) c.2492_2493delinsAATCT (p.Thr831delinsLysSer) c.1490_1491delinsAATCT (p.Thr497delinsLysSer) n.659_660delinsAATCT c.2267_2268delinsAATCT c.2594_2595delinsAATCT (p.Thr865delinsLysSer) c.2483_2484delinsAATCT (p.Thr828delinsLysSer) c.2519_2520delinsAATCT (p.Thr840delinsLysSer) | ClinVar dbSNP |
| 17 | g.31229108A= | CA2255564758 | NF1 | c.2538A= (p.Thr846=) c.2523A= (p.Thr841=) c.2493A= (p.Thr831=) c.1491A= (p.Thr497=) n.660A= c.2268A= c.2595A= (p.Thr865=) c.2484A= (p.Thr828=) c.2520A= (p.Thr840=) | |
| 17 | g.31229108A>C | CA499444173 | NF1 | c.2538A>C (p.Thr846=) c.2523A>C (p.Thr841=) c.2493A>C (p.Thr831=) c.1491A>C (p.Thr497=) n.660A>C c.2268A>C c.2595A>C (p.Thr865=) c.2484A>C (p.Thr828=) c.2520A>C (p.Thr840=) | dbSNP |
| 17 | g.31229108A>G | CA499444174 | NF1 | c.2538A>G (p.Thr846=) c.2523A>G (p.Thr841=) c.2493A>G (p.Thr831=) c.1491A>G (p.Thr497=) n.660A>G c.2268A>G c.2595A>G (p.Thr865=) c.2484A>G (p.Thr828=) c.2520A>G (p.Thr840=) | ClinVar dbSNP |
| 17 | g.31229108A>T | CA499444175 | NF1 | c.2538A>T (p.Thr846=) c.2523A>T (p.Thr841=) c.2493A>T (p.Thr831=) c.1491A>T (p.Thr497=) n.660A>T c.2268A>T c.2595A>T (p.Thr865=) c.2484A>T (p.Thr828=) c.2520A>T (p.Thr840=) | ClinVar dbSNP |
| 17 | g.31229109del | CA2580093268 | NF1 | c.2539del (p.Asp847ThrfsTer9) c.2524del (p.Asp842ThrfsTer9) c.2494del (p.Asp832ThrfsTer9) c.1492del (p.Asp498ThrfsTer9) n.661del c.2269del c.2596del (p.Asp866ThrfsTer9) c.2485del (p.Asp829ThrfsTer9) c.2521del (p.Asp841ThrfsTer9) | ClinVar |
| 17 | g.31229109G>A | CA398984072 | NF1 | c.2539G>A (p.Asp847Asn) c.2524G>A (p.Asp842Asn) c.2494G>A (p.Asp832Asn) c.1492G>A (p.Asp498Asn) n.661G>A c.2269G>A c.2596G>A (p.Asp866Asn) c.2485G>A (p.Asp829Asn) c.2521G>A (p.Asp841Asn) | dbSNP |
| 17 | g.31229109G>C | CA398984074 | NF1 | c.2539G>C (p.Asp847His) c.2524G>C (p.Asp842His) c.2494G>C (p.Asp832His) c.1492G>C (p.Asp498His) n.661G>C c.2269G>C c.2596G>C (p.Asp866His) c.2485G>C (p.Asp829His) c.2521G>C (p.Asp841His) | dbSNP |
| 17 | g.31229109G>T | CA398984076 | NF1 | c.2539G>T (p.Asp847Tyr) c.2524G>T (p.Asp842Tyr) c.2494G>T (p.Asp832Tyr) c.1492G>T (p.Asp498Tyr) n.661G>T c.2269G>T c.2596G>T (p.Asp866Tyr) c.2485G>T (p.Asp829Tyr) c.2521G>T (p.Asp841Tyr) | dbSNP |
| 17 | g.31229110A= | CA2255564763 | NF1 | c.2540A= (p.Asp847=) c.2525A= (p.Asp842=) c.2495A= (p.Asp832=) c.1493A= (p.Asp498=) n.662A= c.2270A= c.2597A= (p.Asp866=) c.2486A= (p.Asp829=) c.2522A= (p.Asp841=) | |
| 17 | g.31229110A>C | CA398984077 | NF1 | c.2540A>C (p.Asp847Ala) c.2525A>C (p.Asp842Ala) c.2495A>C (p.Asp832Ala) c.1493A>C (p.Asp498Ala) n.662A>C c.2270A>C c.2597A>C (p.Asp866Ala) c.2486A>C (p.Asp829Ala) c.2522A>C (p.Asp841Ala) | dbSNP |
| 17 | g.31229110A>G | CA16615179 | NF1 | c.2540A>G (p.Asp847Gly) c.2525A>G (p.Asp842Gly) c.2495A>G (p.Asp832Gly) c.1493A>G (p.Asp498Gly) n.662A>G c.2270A>G c.2597A>G (p.Asp866Gly) c.2486A>G (p.Asp829Gly) c.2522A>G (p.Asp841Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31229110A>T | CA398984080 | NF1 | c.2540A>T (p.Asp847Val) c.2525A>T (p.Asp842Val) c.2495A>T (p.Asp832Val) c.1493A>T (p.Asp498Val) n.662A>T c.2270A>T c.2597A>T (p.Asp866Val) c.2486A>T (p.Asp829Val) c.2522A>T (p.Asp841Val) | dbSNP |
| 17 | g.31229110_31229111dup | CA2739290928 | NF1 | c.2540_2541dup (p.Ser848ThrfsTer9) c.2525_2526dup (p.Ser843ThrfsTer9) c.2495_2496dup (p.Ser833ThrfsTer9) c.1493_1494dup (p.Ser499ThrfsTer9) n.662_663dup c.2270_2271dup c.2597_2598dup (p.Ser867ThrfsTer9) c.2486_2487dup (p.Ser830ThrfsTer9) c.2522_2523dup (p.Ser842ThrfsTer9) | |
| 17 | g.31229111C>A | CA398984081 | NF1 | c.2541C>A (p.Asp847Glu) c.2526C>A (p.Asp842Glu) c.2496C>A (p.Asp832Glu) c.1494C>A (p.Asp498Glu) n.663C>A c.2271C>A c.2598C>A (p.Asp866Glu) c.2487C>A (p.Asp829Glu) c.2523C>A (p.Asp841Glu) | dbSNP |
| 17 | g.31229111C= | CA2255564768 | NF1 | c.2541C= (p.Asp847=) c.2526C= (p.Asp842=) c.2496C= (p.Asp832=) c.1494C= (p.Asp498=) n.663C= c.2271C= c.2598C= (p.Asp866=) c.2487C= (p.Asp829=) c.2523C= (p.Asp841=) | |
| 17 | g.31229111C>G | CA398984083 | NF1 | c.2541C>G (p.Asp847Glu) c.2526C>G (p.Asp842Glu) c.2496C>G (p.Asp832Glu) c.1494C>G (p.Asp498Glu) n.663C>G c.2271C>G c.2598C>G (p.Asp866Glu) c.2487C>G (p.Asp829Glu) c.2523C>G (p.Asp841Glu) | dbSNP |
| 17 | g.31229111C>T | CA499444179 | NF1 | c.2541C>T (p.Asp847=) c.2526C>T (p.Asp842=) c.2496C>T (p.Asp832=) c.1494C>T (p.Asp498=) n.663C>T c.2271C>T c.2598C>T (p.Asp866=) c.2487C>T (p.Asp829=) c.2523C>T (p.Asp841=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31229112del | CA2695225365 | NF1 | c.2542del (p.Ser848ProfsTer8) c.2527del (p.Ser843ProfsTer8) c.2497del (p.Ser833ProfsTer8) c.1495del (p.Ser499ProfsTer8) n.664del c.2272del c.2599del (p.Ser867ProfsTer8) c.2488del (p.Ser830ProfsTer8) c.2524del (p.Ser842ProfsTer8) | |
| 17 | g.31229112T>A | CA398984084 | NF1 | c.2542T>A (p.Ser848Thr) c.2527T>A (p.Ser843Thr) c.2497T>A (p.Ser833Thr) c.1495T>A (p.Ser499Thr) n.664T>A c.2272T>A c.2599T>A (p.Ser867Thr) c.2488T>A (p.Ser830Thr) c.2524T>A (p.Ser842Thr) | dbSNP |
| 17 | g.31229112T>C | CA398984087 | NF1 | c.2542T>C (p.Ser848Pro) c.2527T>C (p.Ser843Pro) c.2497T>C (p.Ser833Pro) c.1495T>C (p.Ser499Pro) n.664T>C c.2272T>C c.2599T>C (p.Ser867Pro) c.2488T>C (p.Ser830Pro) c.2524T>C (p.Ser842Pro) | ClinVar dbSNP |
| 17 | g.31229112T>G | CA398984086 | NF1 | c.2542T>G (p.Ser848Ala) c.2527T>G (p.Ser843Ala) c.2497T>G (p.Ser833Ala) c.1495T>G (p.Ser499Ala) n.664T>G c.2272T>G c.2599T>G (p.Ser867Ala) c.2488T>G (p.Ser830Ala) c.2524T>G (p.Ser842Ala) |