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.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.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.31229160G>A | CA398984245 | NF1 | c.2590G>A (p.Gly864Arg) c.2575G>A (p.Gly859Arg) c.2545G>A (p.Gly849Arg) c.1543G>A (p.Gly515Arg) n.712G>A c.2320G>A c.2647G>A (p.Gly883Arg) c.2536G>A (p.Gly846Arg) c.2572G>A (p.Gly858Arg) | dbSNP |
| 17 | g.31229160G>C | CA398984246 | NF1 | c.2590G>C (p.Gly864Arg) c.2575G>C (p.Gly859Arg) c.2545G>C (p.Gly849Arg) c.1543G>C (p.Gly515Arg) n.712G>C c.2320G>C c.2647G>C (p.Gly883Arg) c.2536G>C (p.Gly846Arg) c.2572G>C (p.Gly858Arg) | dbSNP |
| 17 | g.31229160G= | CA2255565027 | NF1 | c.2590G= (p.Gly864=) c.2575G= (p.Gly859=) c.2545G= (p.Gly849=) c.1543G= (p.Gly515=) n.712G= c.2320G= c.2647G= (p.Gly883=) c.2536G= (p.Gly846=) c.2572G= (p.Gly858=) | |
| 17 | g.31229160G>T | CA16620361 | NF1 | c.2590G>T (p.Gly864Ter) c.2575G>T (p.Gly859Ter) c.2545G>T (p.Gly849Ter) c.1543G>T (p.Gly515Ter) n.712G>T c.2320G>T c.2647G>T (p.Gly883Ter) c.2536G>T (p.Gly846Ter) c.2572G>T (p.Gly858Ter) | ClinVar dbSNP |
| 17 | g.31229161G>A | CA398984248 | NF1 | c.2591G>A (p.Gly864Glu) c.2576G>A (p.Gly859Glu) c.2546G>A (p.Gly849Glu) c.1544G>A (p.Gly515Glu) n.713G>A c.2321G>A c.2648G>A (p.Gly883Glu) c.2537G>A (p.Gly846Glu) c.2573G>A (p.Gly858Glu) | dbSNP |
| 17 | g.31229161G>C | CA398984250 | NF1 | c.2591G>C (p.Gly864Ala) c.2576G>C (p.Gly859Ala) c.2546G>C (p.Gly849Ala) c.1544G>C (p.Gly515Ala) n.713G>C c.2321G>C c.2648G>C (p.Gly883Ala) c.2537G>C (p.Gly846Ala) c.2573G>C (p.Gly858Ala) | |
| 17 | g.31229161G>T | CA398984252 | NF1 | c.2591G>T (p.Gly864Val) c.2576G>T (p.Gly859Val) c.2546G>T (p.Gly849Val) c.1544G>T (p.Gly515Val) n.713G>T c.2321G>T c.2648G>T (p.Gly883Val) c.2537G>T (p.Gly846Val) c.2573G>T (p.Gly858Val) | dbSNP |
| 17 | g.31229161_31229163delinsA | CA2695225373 | NF1 | c.2591_2593delinsA (p.Gly864AspfsTer15) c.2576_2578delinsA (p.Gly859AspfsTer15) c.2546_2548delinsA (p.Gly849AspfsTer15) c.1544_1546delinsA (p.Gly515AspfsTer15) n.713_715delinsA c.2321_2323delinsA c.2648_2650delinsA (p.Gly883AspfsTer15) c.2537_2539delinsA (p.Gly846AspfsTer15) c.2573_2575delinsA (p.Gly858AspfsTer15) | |
| 17 | g.31229161_31229163delinsAA | CA2695225374 | NF1 | c.2591_2593delinsAA (p.Gly864GlufsTer29) c.2576_2578delinsAA (p.Gly859GlufsTer29) c.2546_2548delinsAA (p.Gly849GlufsTer29) c.1544_1546delinsAA (p.Gly515GlufsTer29) n.713_715delinsAA c.2321_2323delinsAA c.2648_2650delinsAA (p.Gly883GlufsTer29) c.2537_2539delinsAA (p.Gly846GlufsTer29) c.2573_2575delinsAA (p.Gly858GlufsTer29) | |
| 17 | g.31229162A= | CA2255565031 | NF1 | c.2592A= (p.Gly864=) c.2577A= (p.Gly859=) c.2547A= (p.Gly849=) c.1545A= (p.Gly515=) n.714A= c.2322A= c.2649A= (p.Gly883=) c.2538A= (p.Gly846=) c.2574A= (p.Gly858=) | |
| 17 | g.31229162A>C | CA188630 | NF1 | c.2592A>C (p.Gly864=) c.2577A>C (p.Gly859=) c.2547A>C (p.Gly849=) c.1545A>C (p.Gly515=) n.714A>C c.2322A>C c.2649A>C (p.Gly883=) c.2538A>C (p.Gly846=) c.2574A>C (p.Gly858=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31229162A>G | CA499444288 | NF1 | c.2592A>G (p.Gly864=) c.2577A>G (p.Gly859=) c.2547A>G (p.Gly849=) c.1545A>G (p.Gly515=) n.714A>G c.2322A>G c.2649A>G (p.Gly883=) c.2538A>G (p.Gly846=) c.2574A>G (p.Gly858=) | dbSNP |
| 17 | g.31229162A>T | CA499444290 | NF1 | c.2592A>T (p.Gly864=) c.2577A>T (p.Gly859=) c.2547A>T (p.Gly849=) c.1545A>T (p.Gly515=) n.714A>T c.2322A>T c.2649A>T (p.Gly883=) c.2538A>T (p.Gly846=) c.2574A>T (p.Gly858=) | dbSNP |
| 17 | g.31229162dup | CA2580614091 | NF1 | c.2592dup (p.Val865SerfsTer15) c.2577dup (p.Val860SerfsTer15) c.2547dup (p.Val850SerfsTer15) c.1545dup (p.Val516SerfsTer15) n.714dup c.2322dup c.2649dup (p.Val884SerfsTer15) c.2538dup (p.Val847SerfsTer15) c.2574dup (p.Val859SerfsTer15) | ClinVar |
| 17 | g.31229163G>A | CA398984253 | NF1 | c.2593G>A (p.Val865Met) c.2578G>A (p.Val860Met) c.2548G>A (p.Val850Met) c.1546G>A (p.Val516Met) n.715G>A c.2323G>A c.2650G>A (p.Val884Met) c.2539G>A (p.Val847Met) c.2575G>A (p.Val859Met) | ClinVar dbSNP |
| 17 | g.31229163G>C | CA398984254 | NF1 | c.2593G>C (p.Val865Leu) c.2578G>C (p.Val860Leu) c.2548G>C (p.Val850Leu) c.1546G>C (p.Val516Leu) n.715G>C c.2323G>C c.2650G>C (p.Val884Leu) c.2539G>C (p.Val847Leu) c.2575G>C (p.Val859Leu) | dbSNP |
| 17 | g.31229163G>T | CA398984256 | NF1 | c.2593G>T (p.Val865Leu) c.2578G>T (p.Val860Leu) c.2548G>T (p.Val850Leu) c.1546G>T (p.Val516Leu) n.715G>T c.2323G>T c.2650G>T (p.Val884Leu) c.2539G>T (p.Val847Leu) c.2575G>T (p.Val859Leu) | |
| 17 | g.31229166_31229167del | CA2695225375 | NF1 | c.2596_2597del (p.Cys866ProfsTer13) c.2581_2582del (p.Cys861ProfsTer13) c.2551_2552del (p.Cys851ProfsTer13) c.1549_1550del (p.Cys517ProfsTer13) n.718_719del c.2326_2327del c.2653_2654del (p.Cys885ProfsTer13) c.2542_2543del (p.Cys848ProfsTer13) c.2578_2579del (p.Cys860ProfsTer13) | |
| 17 | g.31229164T>A | CA398984258 | NF1 | c.2594T>A (p.Val865Glu) c.2579T>A (p.Val860Glu) c.2549T>A (p.Val850Glu) c.1547T>A (p.Val516Glu) n.716T>A c.2324T>A c.2651T>A (p.Val884Glu) c.2540T>A (p.Val847Glu) c.2576T>A (p.Val859Glu) | dbSNP |
| 17 | g.31229164T>C | CA398984260 | NF1 | c.2594T>C (p.Val865Ala) c.2579T>C (p.Val860Ala) c.2549T>C (p.Val850Ala) c.1547T>C (p.Val516Ala) n.716T>C c.2324T>C c.2651T>C (p.Val884Ala) c.2540T>C (p.Val847Ala) c.2576T>C (p.Val859Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31229164T>G | CA398984259 | NF1 | c.2594T>G (p.Val865Gly) c.2579T>G (p.Val860Gly) c.2549T>G (p.Val850Gly) c.1547T>G (p.Val516Gly) n.716T>G c.2324T>G c.2651T>G (p.Val884Gly) c.2540T>G (p.Val847Gly) c.2576T>G (p.Val859Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31229164T= | CA2255565035 | NF1 | c.2594T= (p.Val865=) c.2579T= (p.Val860=) c.2549T= (p.Val850=) c.1547T= (p.Val516=) n.716T= c.2324T= c.2651T= (p.Val884=) c.2540T= (p.Val847=) c.2576T= (p.Val859=) | |
| 17 | g.31229165G>A | CA499444296 | NF1 | c.2595G>A (p.Val865=) c.2580G>A (p.Val860=) c.2550G>A (p.Val850=) c.1548G>A (p.Val516=) n.717G>A c.2325G>A c.2652G>A (p.Val884=) c.2541G>A (p.Val847=) c.2577G>A (p.Val859=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31229165G>C | CA499444297 | NF1 | c.2595G>C (p.Val865=) c.2580G>C (p.Val860=) c.2550G>C (p.Val850=) c.1548G>C (p.Val516=) n.717G>C c.2325G>C c.2652G>C (p.Val884=) c.2541G>C (p.Val847=) c.2577G>C (p.Val859=) | dbSNP |
| 17 | g.31229165G= | CA2255565042 | NF1 | c.2595G= (p.Val865=) c.2580G= (p.Val860=) c.2550G= (p.Val850=) c.1548G= (p.Val516=) n.717G= c.2325G= c.2652G= (p.Val884=) c.2541G= (p.Val847=) c.2577G= (p.Val859=) | |
| 17 | g.31229165G>T | CA8485997 | NF1 | c.2595G>T (p.Val865=) c.2580G>T (p.Val860=) c.2550G>T (p.Val850=) c.1548G>T (p.Val516=) n.717G>T c.2325G>T c.2652G>T (p.Val884=) c.2541G>T (p.Val847=) c.2577G>T (p.Val859=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.31229166T>A | CA398984266 | NF1 | c.2596T>A (p.Cys866Ser) c.2581T>A (p.Cys861Ser) c.2551T>A (p.Cys851Ser) c.1549T>A (p.Cys517Ser) n.718T>A c.2326T>A c.2653T>A (p.Cys885Ser) c.2542T>A (p.Cys848Ser) c.2578T>A (p.Cys860Ser) | dbSNP |
| 17 | g.31229166T>C | CA398984263 | NF1 | c.2596T>C (p.Cys866Arg) c.2581T>C (p.Cys861Arg) c.2551T>C (p.Cys851Arg) c.1549T>C (p.Cys517Arg) n.718T>C c.2326T>C c.2653T>C (p.Cys885Arg) c.2542T>C (p.Cys848Arg) c.2578T>C (p.Cys860Arg) | dbSNP |
| 17 | g.31229166T>G | CA398984264 | NF1 | c.2596T>G (p.Cys866Gly) c.2581T>G (p.Cys861Gly) c.2551T>G (p.Cys851Gly) c.1549T>G (p.Cys517Gly) n.718T>G c.2326T>G c.2653T>G (p.Cys885Gly) c.2542T>G (p.Cys848Gly) c.2578T>G (p.Cys860Gly) | dbSNP |
| 17 | g.31229166_31229167delinsTG | CA2255565047 | NF1 | c.2596_2597delinsTG (p.Cys866=) c.2581_2582delinsTG (p.Cys861=) c.2551_2552delinsTG (p.Cys851=) c.1549_1550delinsTG (p.Cys517=) n.718_719delinsTG c.2326_2327delinsTG c.2653_2654delinsTG (p.Cys885=) c.2542_2543delinsTG (p.Cys848=) c.2578_2579delinsTG (p.Cys860=) | |
| 17 | g.31229167del | CA658824744 | NF1 | c.2597del (p.Cys866SerfsTer27) c.2582del (p.Cys861SerfsTer27) c.2552del (p.Cys851SerfsTer27) c.1550del (p.Cys517SerfsTer27) n.719del c.2327del c.2654del (p.Cys885SerfsTer27) c.2543del (p.Cys848SerfsTer27) c.2579del (p.Cys860SerfsTer27) | ClinVar dbSNP |
| 17 | g.31229167G>A | CA398984268 | NF1 | c.2597G>A (p.Cys866Tyr) c.2582G>A (p.Cys861Tyr) c.2552G>A (p.Cys851Tyr) c.1550G>A (p.Cys517Tyr) n.719G>A c.2327G>A c.2654G>A (p.Cys885Tyr) c.2543G>A (p.Cys848Tyr) c.2579G>A (p.Cys860Tyr) | dbSNP |
| 17 | g.31229167G>C | CA398984270 | NF1 | c.2597G>C (p.Cys866Ser) c.2582G>C (p.Cys861Ser) c.2552G>C (p.Cys851Ser) c.1550G>C (p.Cys517Ser) n.719G>C c.2327G>C c.2654G>C (p.Cys885Ser) c.2543G>C (p.Cys848Ser) c.2579G>C (p.Cys860Ser) | dbSNP |
| 17 | g.31229167G= | CA2255565052 | NF1 | c.2597G= (p.Cys866=) c.2582G= (p.Cys861=) c.2552G= (p.Cys851=) c.1550G= (p.Cys517=) n.719G= c.2327G= c.2654G= (p.Cys885=) c.2543G= (p.Cys848=) c.2579G= (p.Cys860=) | |
| 17 | g.31229167G>T | CA398984271 | NF1 | c.2597G>T (p.Cys866Phe) c.2582G>T (p.Cys861Phe) c.2552G>T (p.Cys851Phe) c.1550G>T (p.Cys517Phe) n.719G>T c.2327G>T c.2654G>T (p.Cys885Phe) c.2543G>T (p.Cys848Phe) c.2579G>T (p.Cys860Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31229168C>A | CA398984273 | NF1 | c.2598C>A (p.Cys866Ter) c.2583C>A (p.Cys861Ter) c.2553C>A (p.Cys851Ter) c.1551C>A (p.Cys517Ter) n.720C>A c.2328C>A c.2655C>A (p.Cys885Ter) c.2544C>A (p.Cys848Ter) c.2580C>A (p.Cys860Ter) | ClinVar dbSNP |
| 17 | g.31229168C= | CA2255565058 | NF1 | c.2598C= (p.Cys866=) c.2583C= (p.Cys861=) c.2553C= (p.Cys851=) c.1551C= (p.Cys517=) n.720C= c.2328C= c.2655C= (p.Cys885=) c.2544C= (p.Cys848=) c.2580C= (p.Cys860=) | |
| 17 | g.31229168C>G | CA398984275 | NF1 | c.2598C>G (p.Cys866Trp) c.2583C>G (p.Cys861Trp) c.2553C>G (p.Cys851Trp) c.1551C>G (p.Cys517Trp) n.720C>G c.2328C>G c.2655C>G (p.Cys885Trp) c.2544C>G (p.Cys848Trp) c.2580C>G (p.Cys860Trp) | dbSNP |
| 17 | g.31229168C>T | CA166622 | NF1 | c.2598C>T (p.Cys866=) c.2583C>T (p.Cys861=) c.2553C>T (p.Cys851=) c.1551C>T (p.Cys517=) n.720C>T c.2328C>T c.2655C>T (p.Cys885=) c.2544C>T (p.Cys848=) c.2580C>T (p.Cys860=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.31229169C>A | CA398984278 | NF1 | c.2599C>A (p.Leu867Ile) c.2584C>A (p.Leu862Ile) c.2554C>A (p.Leu852Ile) c.1552C>A (p.Leu518Ile) n.721C>A c.2329C>A c.2656C>A (p.Leu886Ile) c.2545C>A (p.Leu849Ile) c.2581C>A (p.Leu861Ile) | |
| 17 | g.31229169C= | CA2255565061 | NF1 | c.2599C= (p.Leu867=) c.2584C= (p.Leu862=) c.2554C= (p.Leu852=) c.1552C= (p.Leu518=) n.721C= c.2329C= c.2656C= (p.Leu886=) c.2545C= (p.Leu849=) c.2581C= (p.Leu861=) | |
| 17 | g.31229169C>G | CA398984279 | NF1 | c.2599C>G (p.Leu867Val) c.2584C>G (p.Leu862Val) c.2554C>G (p.Leu852Val) c.1552C>G (p.Leu518Val) n.721C>G c.2329C>G c.2656C>G (p.Leu886Val) c.2545C>G (p.Leu849Val) c.2581C>G (p.Leu861Val) | dbSNP |
| 17 | g.31229169C>T | CA8485998 | NF1 | c.2599C>T (p.Leu867Phe) c.2584C>T (p.Leu862Phe) c.2554C>T (p.Leu852Phe) c.1552C>T (p.Leu518Phe) n.721C>T c.2329C>T c.2656C>T (p.Leu886Phe) c.2545C>T (p.Leu849Phe) c.2581C>T (p.Leu861Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |