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.31229148_31229156del | CA2739290931 | NF1 | c.2578_2586del (p.Cys860_Leu862del) c.2563_2571del (p.Cys855_Leu857del) c.2533_2541del (p.Cys845_Leu847del) c.1531_1539del (p.Cys511_Leu513del) n.700_708del c.2308_2316del c.2635_2643del (p.Cys879_Leu881del) c.2524_2532del (p.Cys842_Leu844del) c.2560_2568del (p.Cys854_Leu856del) | |
| 17 | g.31229150_31229151dup | CA2695225372 | NF1 | c.2580_2581dup (p.Ala861ValfsTer?) c.2565_2566dup (p.Ala856ValfsTer?) c.2535_2536dup (p.Ala846ValfsTer?) c.1533_1534dup (p.Ala512ValfsTer?) n.702_703dup c.2310_2311dup c.2637_2638dup (p.Ala880ValfsTer?) c.2526_2527dup (p.Ala843ValfsTer?) c.2562_2563dup (p.Ala855ValfsTer?) | |
| 17 | g.31229149G>A | CA16615183 | NF1 | c.2579G>A (p.Cys860Tyr) c.2564G>A (p.Cys855Tyr) c.2534G>A (p.Cys845Tyr) c.1532G>A (p.Cys511Tyr) n.701G>A c.2309G>A c.2636G>A (p.Cys879Tyr) c.2525G>A (p.Cys842Tyr) c.2561G>A (p.Cys854Tyr) | ClinVar dbSNP COSMIC |
| 17 | g.31229149G>C | CA398984215 | NF1 | c.2579G>C (p.Cys860Ser) c.2564G>C (p.Cys855Ser) c.2534G>C (p.Cys845Ser) c.1532G>C (p.Cys511Ser) n.701G>C c.2309G>C c.2636G>C (p.Cys879Ser) c.2525G>C (p.Cys842Ser) c.2561G>C (p.Cys854Ser) | dbSNP |
| 17 | g.31229149G= | CA2255564942 | NF1 | c.2579G= (p.Cys860=) c.2564G= (p.Cys855=) c.2534G= (p.Cys845=) c.1532G= (p.Cys511=) n.701G= c.2309G= c.2636G= (p.Cys879=) c.2525G= (p.Cys842=) c.2561G= (p.Cys854=) | |
| 17 | g.31229149G>T | CA398984217 | NF1 | c.2579G>T (p.Cys860Phe) c.2564G>T (p.Cys855Phe) c.2534G>T (p.Cys845Phe) c.1532G>T (p.Cys511Phe) n.701G>T c.2309G>T c.2636G>T (p.Cys879Phe) c.2525G>T (p.Cys842Phe) c.2561G>T (p.Cys854Phe) | ClinVar dbSNP |
| 17 | g.31229149_31229172del | CA645571277 | NF1 | c.2579_2602del (p.Cys860Ter) c.2564_2587del (p.Cys855Ter) c.2534_2557del (p.Cys845Ter) c.1532_1555del (p.Cys511Ter) n.701_724del c.2309_2332del c.2636_2659del (p.Cys879Ter) c.2525_2548del (p.Cys842Ter) c.2561_2584del (p.Cys854Ter) | COSMIC |
| 17 | g.31229150T>A | CA398984218 | NF1 | c.2580T>A (p.Cys860Ter) c.2565T>A (p.Cys855Ter) c.2535T>A (p.Cys845Ter) c.1533T>A (p.Cys511Ter) n.702T>A c.2310T>A c.2637T>A (p.Cys879Ter) c.2526T>A (p.Cys842Ter) c.2562T>A (p.Cys854Ter) | dbSNP |
| 17 | g.31229150T>C | CA499444262 | NF1 | c.2580T>C (p.Cys860=) c.2565T>C (p.Cys855=) c.2535T>C (p.Cys845=) c.1533T>C (p.Cys511=) n.702T>C c.2310T>C c.2637T>C (p.Cys879=) c.2526T>C (p.Cys842=) c.2562T>C (p.Cys854=) | dbSNP |
| 17 | g.31229150T>G | CA398984220 | NF1 | c.2580T>G (p.Cys860Trp) c.2565T>G (p.Cys855Trp) c.2535T>G (p.Cys845Trp) c.1533T>G (p.Cys511Trp) n.702T>G c.2310T>G c.2637T>G (p.Cys879Trp) c.2526T>G (p.Cys842Trp) c.2562T>G (p.Cys854Trp) | ClinVar dbSNP |
| 17 | g.31229150_31229156del | CA2697559728 | NF1 | c.2580_2586del (p.Cys860TrpfsTer?) c.2565_2571del (p.Cys855TrpfsTer?) c.2535_2541del (p.Cys845TrpfsTer?) c.1533_1539del (p.Cys511TrpfsTer?) n.702_708del c.2310_2316del c.2637_2643del (p.Cys879TrpfsTer?) c.2526_2532del (p.Cys842TrpfsTer?) c.2562_2568del (p.Cys854TrpfsTer?) | ClinVar |
| 17 | g.31229151G>A | CA398984222 | NF1 | c.2581G>A (p.Ala861Thr) c.2566G>A (p.Ala856Thr) c.2536G>A (p.Ala846Thr) c.1534G>A (p.Ala512Thr) n.703G>A c.2311G>A c.2638G>A (p.Ala880Thr) c.2527G>A (p.Ala843Thr) c.2563G>A (p.Ala855Thr) | ClinVar dbSNP |
| 17 | g.31229151G>C | CA398984225 | NF1 | c.2581G>C (p.Ala861Pro) c.2566G>C (p.Ala856Pro) c.2536G>C (p.Ala846Pro) c.1534G>C (p.Ala512Pro) n.703G>C c.2311G>C c.2638G>C (p.Ala880Pro) c.2527G>C (p.Ala843Pro) c.2563G>C (p.Ala855Pro) | ClinVar dbSNP |
| 17 | g.31229151G= | CA2255564953 | NF1 | c.2581G= (p.Ala861=) c.2566G= (p.Ala856=) c.2536G= (p.Ala846=) c.1534G= (p.Ala512=) n.703G= c.2311G= c.2638G= (p.Ala880=) c.2527G= (p.Ala843=) c.2563G= (p.Ala855=) | |
| 17 | g.31229151G>T | CA398984224 | NF1 | c.2581G>T (p.Ala861Ser) c.2566G>T (p.Ala856Ser) c.2536G>T (p.Ala846Ser) c.1534G>T (p.Ala512Ser) n.703G>T c.2311G>T c.2638G>T (p.Ala880Ser) c.2527G>T (p.Ala843Ser) c.2563G>T (p.Ala855Ser) | |
| 17 | g.31229152C>A | CA398984227 | NF1 | c.2582C>A (p.Ala861Asp) c.2567C>A (p.Ala856Asp) c.2537C>A (p.Ala846Asp) c.1535C>A (p.Ala512Asp) n.704C>A c.2312C>A c.2639C>A (p.Ala880Asp) c.2528C>A (p.Ala843Asp) c.2564C>A (p.Ala855Asp) | ClinVar dbSNP |
| 17 | g.31229152C= | CA2255564959 | NF1 | c.2582C= (p.Ala861=) c.2567C= (p.Ala856=) c.2537C= (p.Ala846=) c.1535C= (p.Ala512=) n.704C= c.2312C= c.2639C= (p.Ala880=) c.2528C= (p.Ala843=) c.2564C= (p.Ala855=) | |
| 17 | g.31229152C>G | CA398984228 | NF1 | c.2582C>G (p.Ala861Gly) c.2567C>G (p.Ala856Gly) c.2537C>G (p.Ala846Gly) c.1535C>G (p.Ala512Gly) n.704C>G c.2312C>G c.2639C>G (p.Ala880Gly) c.2528C>G (p.Ala843Gly) c.2564C>G (p.Ala855Gly) | dbSNP |
| 17 | g.31229152C>T | CA398984229 | NF1 | c.2582C>T (p.Ala861Val) c.2567C>T (p.Ala856Val) c.2537C>T (p.Ala846Val) c.1535C>T (p.Ala512Val) n.704C>T c.2312C>T c.2639C>T (p.Ala880Val) c.2528C>T (p.Ala843Val) c.2564C>T (p.Ala855Val) | dbSNP |
| 17 | g.31229154dup | CA1139665435 | NF1 | c.2584dup (p.Leu862ProfsTer18) c.2569dup (p.Leu857ProfsTer18) c.2539dup (p.Leu847ProfsTer18) c.1537dup (p.Leu513ProfsTer18) n.706dup c.2314dup c.2641dup (p.Leu881ProfsTer18) c.2530dup (p.Leu844ProfsTer18) c.2566dup (p.Leu856ProfsTer18) | ClinVar dbSNP |
| 17 | g.31229153C>A | CA499444266 | NF1 | c.2583C>A (p.Ala861=) c.2568C>A (p.Ala856=) c.2538C>A (p.Ala846=) c.1536C>A (p.Ala512=) n.705C>A c.2313C>A c.2640C>A (p.Ala880=) c.2529C>A (p.Ala843=) c.2565C>A (p.Ala855=) | dbSNP |
| 17 | g.31229153C>G | CA499444267 | NF1 | c.2583C>G (p.Ala861=) c.2568C>G (p.Ala856=) c.2538C>G (p.Ala846=) c.1536C>G (p.Ala512=) n.705C>G c.2313C>G c.2640C>G (p.Ala880=) c.2529C>G (p.Ala843=) c.2565C>G (p.Ala855=) | dbSNP |
| 17 | g.31229153C>T | CA499444268 | NF1 | c.2583C>T (p.Ala861=) c.2568C>T (p.Ala856=) c.2538C>T (p.Ala846=) c.1536C>T (p.Ala512=) n.705C>T c.2313C>T c.2640C>T (p.Ala880=) c.2529C>T (p.Ala843=) c.2565C>T (p.Ala855=) | dbSNP |
| 17 | g.31229154C>A | CA398984231 | NF1 | c.2584C>A (p.Leu862Ile) c.2569C>A (p.Leu857Ile) c.2539C>A (p.Leu847Ile) c.1537C>A (p.Leu513Ile) n.706C>A c.2314C>A c.2641C>A (p.Leu881Ile) c.2530C>A (p.Leu844Ile) c.2566C>A (p.Leu856Ile) | dbSNP |
| 17 | g.31229154C= | CA2255564967 | NF1 | c.2584C= (p.Leu862=) c.2569C= (p.Leu857=) c.2539C= (p.Leu847=) c.1537C= (p.Leu513=) n.706C= c.2314C= c.2641C= (p.Leu881=) c.2530C= (p.Leu844=) c.2566C= (p.Leu856=) | |
| 17 | g.31229154C>G | CA398984232 | NF1 | c.2584C>G (p.Leu862Val) c.2569C>G (p.Leu857Val) c.2539C>G (p.Leu847Val) c.1537C>G (p.Leu513Val) n.706C>G c.2314C>G c.2641C>G (p.Leu881Val) c.2530C>G (p.Leu844Val) c.2566C>G (p.Leu856Val) | ClinVar dbSNP |
| 17 | g.31229154C>T | CA8485996 | NF1 | c.2584C>T (p.Leu862Phe) c.2569C>T (p.Leu857Phe) c.2539C>T (p.Leu847Phe) c.1537C>T (p.Leu513Phe) n.706C>T c.2314C>T c.2641C>T (p.Leu881Phe) c.2530C>T (p.Leu844Phe) c.2566C>T (p.Leu856Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31229155T>A | CA398984235 | NF1 | c.2585T>A (p.Leu862His) c.2570T>A (p.Leu857His) c.2540T>A (p.Leu847His) c.1538T>A (p.Leu513His) n.707T>A c.2315T>A c.2642T>A (p.Leu881His) c.2531T>A (p.Leu844His) c.2567T>A (p.Leu856His) | dbSNP |
| 17 | g.31229155T>C | CA219477 | NF1 | c.2585T>C (p.Leu862Pro) c.2570T>C (p.Leu857Pro) c.2540T>C (p.Leu847Pro) c.1538T>C (p.Leu513Pro) n.707T>C c.2315T>C c.2642T>C (p.Leu881Pro) c.2531T>C (p.Leu844Pro) c.2567T>C (p.Leu856Pro) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.31229155T>G | CA398984236 | NF1 | c.2585T>G (p.Leu862Arg) c.2570T>G (p.Leu857Arg) c.2540T>G (p.Leu847Arg) c.1538T>G (p.Leu513Arg) n.707T>G c.2315T>G c.2642T>G (p.Leu881Arg) c.2531T>G (p.Leu844Arg) c.2567T>G (p.Leu856Arg) | ClinVar dbSNP |
| 17 | g.31229155T= | CA2255564979 | NF1 | c.2585T= (p.Leu862=) c.2570T= (p.Leu857=) c.2540T= (p.Leu847=) c.1538T= (p.Leu513=) n.707T= c.2315T= c.2642T= (p.Leu881=) c.2531T= (p.Leu844=) c.2567T= (p.Leu856=) | |
| 17 | g.31229156del | CA499444273 | NF1 | c.2586del (p.Gly864GlufsTer?) c.2571del (p.Gly859GlufsTer?) c.2541del (p.Gly849GlufsTer?) c.1539del (p.Gly515GlufsTer?) n.708del c.2316del c.2643del (p.Gly883GlufsTer?) c.2532del (p.Gly846GlufsTer?) c.2568del (p.Gly858GlufsTer?) | COSMIC |
| 17 | g.31229156T>A | CA499444277 | NF1 | c.2586T>A (p.Leu862=) c.2571T>A (p.Leu857=) c.2541T>A (p.Leu847=) c.1539T>A (p.Leu513=) n.708T>A c.2316T>A c.2643T>A (p.Leu881=) c.2532T>A (p.Leu844=) c.2568T>A (p.Leu856=) | |
| 17 | g.31229156T>C | CA349469 | NF1 | c.2586T>C (p.Leu862=) c.2571T>C (p.Leu857=) c.2541T>C (p.Leu847=) c.1539T>C (p.Leu513=) n.708T>C c.2316T>C c.2643T>C (p.Leu881=) c.2532T>C (p.Leu844=) c.2568T>C (p.Leu856=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.31229156T>G | CA499444280 | NF1 | c.2586T>G (p.Leu862=) c.2571T>G (p.Leu857=) c.2541T>G (p.Leu847=) c.1539T>G (p.Leu513=) n.708T>G c.2316T>G c.2643T>G (p.Leu881=) c.2532T>G (p.Leu844=) c.2568T>G (p.Leu856=) | |
| 17 | g.31229156T= | CA2255564987 | NF1 | c.2586T= (p.Leu862=) c.2571T= (p.Leu857=) c.2541T= (p.Leu847=) c.1539T= (p.Leu513=) n.708T= c.2316T= c.2643T= (p.Leu881=) c.2532T= (p.Leu844=) c.2568T= (p.Leu856=) | |
| 17 | g.31229156_31229157delinsTG | CA2255564990 | NF1 | c.2586_2587delinsTG (p.Leu862=) c.2571_2572delinsTG (p.Leu857=) c.2541_2542delinsTG (p.Leu847=) c.1539_1540delinsTG (p.Leu513=) n.708_709delinsTG c.2316_2317delinsTG c.2643_2644delinsTG (p.Leu881=) c.2532_2533delinsTG (p.Leu844=) c.2568_2569delinsTG (p.Leu856=) | |
| 17 | g.31229157G>A | CA398984238 | NF1 | c.2587G>A (p.Gly863Arg) c.2572G>A (p.Gly858Arg) c.2542G>A (p.Gly848Arg) c.1540G>A (p.Gly514Arg) n.709G>A c.2317G>A c.2644G>A (p.Gly882Arg) c.2533G>A (p.Gly845Arg) c.2569G>A (p.Gly857Arg) | ClinVar dbSNP |
| 17 | g.31229157G>C | CA16615616 | NF1 | c.2587G>C (p.Gly863Arg) c.2572G>C (p.Gly858Arg) c.2542G>C (p.Gly848Arg) c.1540G>C (p.Gly514Arg) n.709G>C c.2317G>C c.2644G>C (p.Gly882Arg) c.2533G>C (p.Gly845Arg) c.2569G>C (p.Gly857Arg) | ClinVar dbSNP |
| 17 | g.31229157G= | CA2255565006 | NF1 | c.2587G= (p.Gly863=) c.2572G= (p.Gly858=) c.2542G= (p.Gly848=) c.1540G= (p.Gly514=) n.709G= c.2317G= c.2644G= (p.Gly882=) c.2533G= (p.Gly845=) c.2569G= (p.Gly857=) | |
| 17 | g.31229157G>T | CA398984240 | NF1 | c.2587G>T (p.Gly863Trp) c.2572G>T (p.Gly858Trp) c.2542G>T (p.Gly848Trp) c.1540G>T (p.Gly514Trp) n.709G>T c.2317G>T c.2644G>T (p.Gly882Trp) c.2533G>T (p.Gly845Trp) c.2569G>T (p.Gly857Trp) | dbSNP |
| 17 | g.31229161dup | CA916080617 | NF1 | c.2591dup (p.Val865SerfsTer15) c.2576dup (p.Val860SerfsTer15) c.2546dup (p.Val850SerfsTer15) c.1544dup (p.Val516SerfsTer15) n.713dup c.2321dup c.2648dup (p.Val884SerfsTer15) c.2537dup (p.Val847SerfsTer15) c.2573dup (p.Val859SerfsTer15) | ClinVar dbSNP |
| 17 | g.31229160_31229161dup | CA891844373 | NF1 | c.2590_2591dup (p.Val865GlufsTer29) c.2575_2576dup (p.Val860GlufsTer29) c.2545_2546dup (p.Val850GlufsTer29) c.1543_1544dup (p.Val516GlufsTer29) n.712_713dup c.2320_2321dup c.2647_2648dup (p.Val884GlufsTer29) c.2536_2537dup (p.Val847GlufsTer29) c.2572_2573dup (p.Val859GlufsTer29) | ClinVar dbSNP |
| 17 | g.31229161del | CA645571278 | NF1 | c.2591del (p.Gly864GlufsTer29) c.2576del (p.Gly859GlufsTer29) c.2546del (p.Gly849GlufsTer29) c.1544del (p.Gly515GlufsTer29) n.713del c.2321del c.2648del (p.Gly883GlufsTer29) c.2537del (p.Gly846GlufsTer29) c.2573del (p.Gly858GlufsTer29) | ClinVar dbSNP COSMIC |
| 17 | g.31229158G>A | CA219481 | NF1 | c.2588G>A (p.Gly863Glu) c.2573G>A (p.Gly858Glu) c.2543G>A (p.Gly848Glu) c.1541G>A (p.Gly514Glu) n.710G>A c.2318G>A c.2645G>A (p.Gly882Glu) c.2534G>A (p.Gly845Glu) c.2570G>A (p.Gly857Glu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31229158G>C | CA398984241 | NF1 | c.2588G>C (p.Gly863Ala) c.2573G>C (p.Gly858Ala) c.2543G>C (p.Gly848Ala) c.1541G>C (p.Gly514Ala) n.710G>C c.2318G>C c.2645G>C (p.Gly882Ala) c.2534G>C (p.Gly845Ala) c.2570G>C (p.Gly857Ala) | dbSNP |
| 17 | g.31229158G= | CA2255565010 | NF1 | c.2588G= (p.Gly863=) c.2573G= (p.Gly858=) c.2543G= (p.Gly848=) c.1541G= (p.Gly514=) n.710G= c.2318G= c.2645G= (p.Gly882=) c.2534G= (p.Gly845=) c.2570G= (p.Gly857=) |