Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31226907_31229806delCA10602510NF1c.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
17g.31228914_31229530delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTTCA2255564286NF1c.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
17g.31228915_31229530delinsAAAACA277589NF1c.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
17g.31229149_31229172delCA645571277NF1c.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
17g.31229166_31229167delCA2695225375NF1c.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)
17g.31229165G>ACA499444296NF1c.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
17g.31229165G>CCA499444297NF1c.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
17g.31229165G=CA2255565042NF1c.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=)
17g.31229165G>TCA8485997NF1c.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
17g.31229166T>ACA398984266NF1c.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
17g.31229166T>CCA398984263NF1c.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
17g.31229166T>GCA398984264NF1c.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
17g.31229166_31229167delinsTGCA2255565047NF1c.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=)
17g.31229167delCA658824744NF1c.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
17g.31229167G>ACA398984268NF1c.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
17g.31229167G>CCA398984270NF1c.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
17g.31229167G=CA2255565052NF1c.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=)
17g.31229167G>TCA398984271NF1c.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
17g.31229168C>ACA398984273NF1c.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
17g.31229168C=CA2255565058NF1c.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=)
17g.31229168C>GCA398984275NF1c.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
17g.31229168C>TCA166622NF1c.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
17g.31229169C>ACA398984278NF1c.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)
17g.31229169C=CA2255565061NF1c.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=)
17g.31229169C>GCA398984279NF1c.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
17g.31229169C>TCA8485998NF1c.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
17g.31229170T>ACA398984283NF1c.2600T>A (p.Leu867His)
c.2585T>A (p.Leu862His)
c.2555T>A (p.Leu852His)
c.1553T>A (p.Leu518His)
n.722T>A
c.2330T>A
c.2657T>A (p.Leu886His)
c.2546T>A (p.Leu849His)
c.2582T>A (p.Leu861His)
17g.31229170T>CCA398984281NF1c.2600T>C (p.Leu867Pro)
c.2585T>C (p.Leu862Pro)
c.2555T>C (p.Leu852Pro)
c.1553T>C (p.Leu518Pro)
n.722T>C
c.2330T>C
c.2657T>C (p.Leu886Pro)
c.2546T>C (p.Leu849Pro)
c.2582T>C (p.Leu861Pro)
 ClinVar
17g.31229170T>GCA10580257NF1c.2600T>G (p.Leu867Arg)
c.2585T>G (p.Leu862Arg)
c.2555T>G (p.Leu852Arg)
c.1553T>G (p.Leu518Arg)
n.722T>G
c.2330T>G
c.2657T>G (p.Leu886Arg)
c.2546T>G (p.Leu849Arg)
c.2582T>G (p.Leu861Arg)
 ClinVar dbSNP gnomAD v4
17g.31229170T=CA2255565067NF1c.2600T= (p.Leu867=)
c.2585T= (p.Leu862=)
c.2555T= (p.Leu852=)
c.1553T= (p.Leu518=)
n.722T=
c.2330T=
c.2657T= (p.Leu886=)
c.2546T= (p.Leu849=)
c.2582T= (p.Leu861=)
17g.31229171C>ACA499444312NF1c.2601C>A (p.Leu867=)
c.2586C>A (p.Leu862=)
c.2556C>A (p.Leu852=)
c.1554C>A (p.Leu518=)
n.723C>A
c.2331C>A
c.2658C>A (p.Leu886=)
c.2547C>A (p.Leu849=)
c.2583C>A (p.Leu861=)
 dbSNP
17g.31229171C=CA2255565073NF1c.2601C= (p.Leu867=)
c.2586C= (p.Leu862=)
c.2556C= (p.Leu852=)
c.1554C= (p.Leu518=)
n.723C=
c.2331C=
c.2658C= (p.Leu886=)
c.2547C= (p.Leu849=)
c.2583C= (p.Leu861=)
17g.31229171C>GCA499444314NF1c.2601C>G (p.Leu867=)
c.2586C>G (p.Leu862=)
c.2556C>G (p.Leu852=)
c.1554C>G (p.Leu518=)
n.723C>G
c.2331C>G
c.2658C>G (p.Leu886=)
c.2547C>G (p.Leu849=)
c.2583C>G (p.Leu861=)
 dbSNP
17g.31229171C>TCA8485999NF1c.2601C>T (p.Leu867=)
c.2586C>T (p.Leu862=)
c.2556C>T (p.Leu852=)
c.1554C>T (p.Leu518=)
n.723C>T
c.2331C>T
c.2658C>T (p.Leu886=)
c.2547C>T (p.Leu849=)
c.2583C>T (p.Leu861=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.31229172C>ACA398984286NF1c.2602C>A (p.Gln868Lys)
c.2587C>A (p.Gln863Lys)
c.2557C>A (p.Gln853Lys)
c.1555C>A (p.Gln519Lys)
n.724C>A
c.2332C>A
c.2659C>A (p.Gln887Lys)
c.2548C>A (p.Gln850Lys)
c.2584C>A (p.Gln862Lys)
 dbSNP
17g.31229172C>GCA398984287NF1c.2602C>G (p.Gln868Glu)
c.2587C>G (p.Gln863Glu)
c.2557C>G (p.Gln853Glu)
c.1555C>G (p.Gln519Glu)
n.724C>G
c.2332C>G
c.2659C>G (p.Gln887Glu)
c.2548C>G (p.Gln850Glu)
c.2584C>G (p.Gln862Glu)
 dbSNP
17g.31229172C>TCA398984289NF1c.2602C>T (p.Gln868Ter)
c.2587C>T (p.Gln863Ter)
c.2557C>T (p.Gln853Ter)
c.1555C>T (p.Gln519Ter)
n.724C>T
c.2332C>T
c.2659C>T (p.Gln887Ter)
c.2548C>T (p.Gln850Ter)
c.2584C>T (p.Gln862Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.31229173A>CCA398984290NF1c.2603A>C (p.Gln868Pro)
c.2588A>C (p.Gln863Pro)
c.2558A>C (p.Gln853Pro)
c.1556A>C (p.Gln519Pro)
n.725A>C
c.2333A>C
c.2660A>C (p.Gln887Pro)
c.2549A>C (p.Gln850Pro)
c.2585A>C (p.Gln862Pro)
17g.31229173A>GCA398984291NF1c.2603A>G (p.Gln868Arg)
c.2588A>G (p.Gln863Arg)
c.2558A>G (p.Gln853Arg)
c.1556A>G (p.Gln519Arg)
n.725A>G
c.2333A>G
c.2660A>G (p.Gln887Arg)
c.2549A>G (p.Gln850Arg)
c.2585A>G (p.Gln862Arg)
 dbSNP
17g.31229173A>TCA398984292NF1c.2603A>T (p.Gln868Leu)
c.2588A>T (p.Gln863Leu)
c.2558A>T (p.Gln853Leu)
c.1556A>T (p.Gln519Leu)
n.725A>T
c.2333A>T
c.2660A>T (p.Gln887Leu)
c.2549A>T (p.Gln850Leu)
c.2585A>T (p.Gln862Leu)
 dbSNP
17g.31229174G>ACA499444322NF1c.2604G>A (p.Gln868=)
c.2589G>A (p.Gln863=)
c.2559G>A (p.Gln853=)
c.1557G>A (p.Gln519=)
n.726G>A
c.2334G>A
c.2661G>A (p.Gln887=)
c.2550G>A (p.Gln850=)
c.2586G>A (p.Gln862=)
 dbSNP
17g.31229174G>CCA398984293NF1c.2604G>C (p.Gln868His)
c.2589G>C (p.Gln863His)
c.2559G>C (p.Gln853His)
c.1557G>C (p.Gln519His)
n.726G>C
c.2334G>C
c.2661G>C (p.Gln887His)
c.2550G>C (p.Gln850His)
c.2586G>C (p.Gln862His)
 dbSNP
17g.31229174G>TCA398984294NF1c.2604G>T (p.Gln868His)
c.2589G>T (p.Gln863His)
c.2559G>T (p.Gln853His)
c.1557G>T (p.Gln519His)
n.726G>T
c.2334G>T
c.2661G>T (p.Gln887His)
c.2550G>T (p.Gln850His)
c.2586G>T (p.Gln862His)
 ClinVar dbSNP
17g.31229175C>ACA398984297NF1c.2605C>A (p.Gln869Lys)
c.2590C>A (p.Gln864Lys)
c.2560C>A (p.Gln854Lys)
c.1558C>A (p.Gln520Lys)
n.727C>A
c.2335C>A
c.2662C>A (p.Gln888Lys)
c.2551C>A (p.Gln851Lys)
c.2587C>A (p.Gln863Lys)
 dbSNP
17g.31229175C=CA2255565081NF1c.2605C= (p.Gln869=)
c.2590C= (p.Gln864=)
c.2560C= (p.Gln854=)
c.1558C= (p.Gln520=)
n.727C=
c.2335C=
c.2662C= (p.Gln888=)
c.2551C= (p.Gln851=)
c.2587C= (p.Gln863=)
17g.31229175C>GCA398984298NF1c.2605C>G (p.Gln869Glu)
c.2590C>G (p.Gln864Glu)
c.2560C>G (p.Gln854Glu)
c.1558C>G (p.Gln520Glu)
n.727C>G
c.2335C>G
c.2662C>G (p.Gln888Glu)
c.2551C>G (p.Gln851Glu)
c.2587C>G (p.Gln863Glu)
 dbSNP
17g.31229175C>TCA398984299NF1c.2605C>T (p.Gln869Ter)
c.2590C>T (p.Gln864Ter)
c.2560C>T (p.Gln854Ter)
c.1558C>T (p.Gln520Ter)
n.727C>T
c.2335C>T
c.2662C>T (p.Gln888Ter)
c.2551C>T (p.Gln851Ter)
c.2587C>T (p.Gln863Ter)
 ClinVar dbSNP
17g.31229175_31229185delCA2697559729NF1c.2605_2615del (p.Gln869PhefsTer7)
c.2590_2600del (p.Gln864PhefsTer7)
c.2560_2570del (p.Gln854PhefsTer7)
c.1558_1568del (p.Gln520PhefsTer7)
n.727_737del
c.2335_2345del
c.2662_2672del (p.Gln888PhefsTer7)
c.2551_2561del (p.Gln851PhefsTer7)
c.2587_2597del (p.Gln863PhefsTer7)
 ClinVar
17g.31229176A>CCA398984302NF1c.2606A>C (p.Gln869Pro)
c.2591A>C (p.Gln864Pro)
c.2561A>C (p.Gln854Pro)
c.1559A>C (p.Gln520Pro)
n.728A>C
c.2336A>C
c.2663A>C (p.Gln888Pro)
c.2552A>C (p.Gln851Pro)
c.2588A>C (p.Gln863Pro)
17g.31229176A>GCA398984304NF1c.2606A>G (p.Gln869Arg)
c.2591A>G (p.Gln864Arg)
c.2561A>G (p.Gln854Arg)
c.1559A>G (p.Gln520Arg)
n.728A>G
c.2336A>G
c.2663A>G (p.Gln888Arg)
c.2552A>G (p.Gln851Arg)
c.2588A>G (p.Gln863Arg)
 ClinVar dbSNP
17g.31229176A>TCA398984300NF1c.2606A>T (p.Gln869Leu)
c.2591A>T (p.Gln864Leu)
c.2561A>T (p.Gln854Leu)
c.1559A>T (p.Gln520Leu)
n.728A>T
c.2336A>T
c.2663A>T (p.Gln888Leu)
c.2552A>T (p.Gln851Leu)
c.2588A>T (p.Gln863Leu)
 dbSNP
17g.31229177G>ACA499444326NF1c.2607G>A (p.Gln869=)
c.2592G>A (p.Gln864=)
c.2562G>A (p.Gln854=)
c.1560G>A (p.Gln520=)
n.729G>A
c.2337G>A
c.2664G>A (p.Gln888=)
c.2553G>A (p.Gln851=)
c.2589G>A (p.Gln863=)
 ClinVar dbSNP gnomAD v4
17g.31229177G>CCA398984305NF1c.2607G>C (p.Gln869His)
c.2592G>C (p.Gln864His)
c.2562G>C (p.Gln854His)
c.1560G>C (p.Gln520His)
n.729G>C
c.2337G>C
c.2664G>C (p.Gln888His)
c.2553G>C (p.Gln851His)
c.2589G>C (p.Gln863His)
 dbSNP
17g.31229177G>TCA398984307NF1c.2607G>T (p.Gln869His)
c.2592G>T (p.Gln864His)
c.2562G>T (p.Gln854His)
c.1560G>T (p.Gln520His)
n.729G>T
c.2337G>T
c.2664G>T (p.Gln888His)
c.2553G>T (p.Gln851His)
c.2589G>T (p.Gln863His)
 dbSNP
17g.31229178A>CCA499444328NF1c.2608A>C (p.Arg870=)
c.2593A>C (p.Arg865=)
c.2563A>C (p.Arg855=)
c.1561A>C (p.Arg521=)
n.730A>C
c.2338A>C
c.2665A>C (p.Arg889=)
c.2554A>C (p.Arg852=)
c.2590A>C (p.Arg864=)
17g.31229178A>GCA398984309NF1c.2608A>G (p.Arg870Gly)
c.2593A>G (p.Arg865Gly)
c.2563A>G (p.Arg855Gly)
c.1561A>G (p.Arg521Gly)
n.730A>G
c.2338A>G
c.2665A>G (p.Arg889Gly)
c.2554A>G (p.Arg852Gly)
c.2590A>G (p.Arg864Gly)
17g.31229178A>TCA398984311NF1c.2608A>T (p.Arg870Ter)
c.2593A>T (p.Arg865Ter)
c.2563A>T (p.Arg855Ter)
c.1561A>T (p.Arg521Ter)
n.730A>T
c.2338A>T
c.2665A>T (p.Arg889Ter)
c.2554A>T (p.Arg852Ter)
c.2590A>T (p.Arg864Ter)
 ClinVar dbSNP
17g.31229179G>ACA398984312NF1c.2609G>A (p.Arg870Lys)
c.2594G>A (p.Arg865Lys)
c.2564G>A (p.Arg855Lys)
c.1562G>A (p.Arg521Lys)
n.731G>A
c.2339G>A
c.2666G>A (p.Arg889Lys)
c.2555G>A (p.Arg852Lys)
c.2591G>A (p.Arg864Lys)
 ClinVar dbSNP
17g.31229179G>CCA197585NF1c.2609G>C (p.Arg870Thr)
c.2594G>C (p.Arg865Thr)
c.2564G>C (p.Arg855Thr)
c.1562G>C (p.Arg521Thr)
n.731G>C
c.2339G>C
c.2666G>C (p.Arg889Thr)
c.2555G>C (p.Arg852Thr)
c.2591G>C (p.Arg864Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31229179G=CA2255565089NF1c.2609G= (p.Arg870=)
c.2594G= (p.Arg865=)
c.2564G= (p.Arg855=)
c.1562G= (p.Arg521=)
n.731G=
c.2339G=
c.2666G= (p.Arg889=)
c.2555G= (p.Arg852=)
c.2591G= (p.Arg864=)
17g.31229179G>TCA398984315NF1c.2609G>T (p.Arg870Ile)
c.2594G>T (p.Arg865Ile)
c.2564G>T (p.Arg855Ile)
c.1562G>T (p.Arg521Ile)
n.731G>T
c.2339G>T
c.2666G>T (p.Arg889Ile)
c.2555G>T (p.Arg852Ile)
c.2591G>T (p.Arg864Ile)
 dbSNP
17g.31229180A=CA2255565094NF1c.2610A= (p.Arg870=)
c.2595A= (p.Arg865=)
c.2565A= (p.Arg855=)
c.1563A= (p.Arg521=)
n.732A=
c.2340A=
c.2667A= (p.Arg889=)
c.2556A= (p.Arg852=)
c.2592A= (p.Arg864=)
17g.31229180A>CCA398984316NF1c.2610A>C (p.Arg870Ser)
c.2595A>C (p.Arg865Ser)
c.2565A>C (p.Arg855Ser)
c.1563A>C (p.Arg521Ser)
n.732A>C
c.2340A>C
c.2667A>C (p.Arg889Ser)
c.2556A>C (p.Arg852Ser)
c.2592A>C (p.Arg864Ser)
 ClinVar dbSNP
17g.31229180A>GCA499444335NF1c.2610A>G (p.Arg870=)
c.2595A>G (p.Arg865=)
c.2565A>G (p.Arg855=)
c.1563A>G (p.Arg521=)
n.732A>G
c.2340A>G
c.2667A>G (p.Arg889=)
c.2556A>G (p.Arg852=)
c.2592A>G (p.Arg864=)
 dbSNP
17g.31229180A>TCA398984318NF1c.2610A>T (p.Arg870Ser)
c.2595A>T (p.Arg865Ser)
c.2565A>T (p.Arg855Ser)
c.1563A>T (p.Arg521Ser)
n.732A>T
c.2340A>T
c.2667A>T (p.Arg889Ser)
c.2556A>T (p.Arg852Ser)
c.2592A>T (p.Arg864Ser)
 dbSNP
17g.31229181A>CCA398984319NF1c.2611A>C (p.Ser871Arg)
c.2596A>C (p.Ser866Arg)
c.2566A>C (p.Ser856Arg)
c.1564A>C (p.Ser522Arg)
n.733A>C
c.2341A>C
c.2668A>C (p.Ser890Arg)
c.2557A>C (p.Ser853Arg)
c.2593A>C (p.Ser865Arg)
17g.31229181A>GCA398984320NF1c.2611A>G (p.Ser871Gly)
c.2596A>G (p.Ser866Gly)
c.2566A>G (p.Ser856Gly)
c.1564A>G (p.Ser522Gly)
n.733A>G
c.2341A>G
c.2668A>G (p.Ser890Gly)
c.2557A>G (p.Ser853Gly)
c.2593A>G (p.Ser865Gly)
 dbSNP
17g.31229181A>TCA398984322NF1c.2611A>T (p.Ser871Cys)
c.2596A>T (p.Ser866Cys)
c.2566A>T (p.Ser856Cys)
c.1564A>T (p.Ser522Cys)
n.733A>T
c.2341A>T
c.2668A>T (p.Ser890Cys)
c.2557A>T (p.Ser853Cys)
c.2593A>T (p.Ser865Cys)
 dbSNP
17g.31229182G>ACA398984326NF1c.2612G>A (p.Ser871Asn)
c.2597G>A (p.Ser866Asn)
c.2567G>A (p.Ser856Asn)
c.1565G>A (p.Ser522Asn)
n.734G>A
c.2342G>A
c.2669G>A (p.Ser890Asn)
c.2558G>A (p.Ser853Asn)
c.2594G>A (p.Ser865Asn)
 ClinVar dbSNP COSMIC COSMIC
17g.31229182G>CCA398984329NF1c.2612G>C (p.Ser871Thr)
c.2597G>C (p.Ser866Thr)
c.2567G>C (p.Ser856Thr)
c.1565G>C (p.Ser522Thr)
n.734G>C
c.2342G>C
c.2669G>C (p.Ser890Thr)
c.2558G>C (p.Ser853Thr)
c.2594G>C (p.Ser865Thr)
 ClinVar dbSNP
17g.31229182G>TCA398984324NF1c.2612G>T (p.Ser871Ile)
c.2597G>T (p.Ser866Ile)
c.2567G>T (p.Ser856Ile)
c.1565G>T (p.Ser522Ile)
n.734G>T
c.2342G>T
c.2669G>T (p.Ser890Ile)
c.2558G>T (p.Ser853Ile)
c.2594G>T (p.Ser865Ile)
17g.31229183C>ACA398984331NF1c.2613C>A (p.Ser871Arg)
c.2598C>A (p.Ser866Arg)
c.2568C>A (p.Ser856Arg)
c.1566C>A (p.Ser522Arg)
n.735C>A
c.2343C>A
c.2670C>A (p.Ser890Arg)
c.2559C>A (p.Ser853Arg)
c.2595C>A (p.Ser865Arg)
 dbSNP
17g.31229183C=CA2255565100NF1c.2613C= (p.Ser871=)
c.2598C= (p.Ser866=)
c.2568C= (p.Ser856=)
c.1566C= (p.Ser522=)
n.735C=
c.2343C=
c.2670C= (p.Ser890=)
c.2559C= (p.Ser853=)
c.2595C= (p.Ser865=)
17g.31229183C>GCA398984332NF1c.2613C>G (p.Ser871Arg)
c.2598C>G (p.Ser866Arg)
c.2568C>G (p.Ser856Arg)
c.1566C>G (p.Ser522Arg)
n.735C>G
c.2343C>G
c.2670C>G (p.Ser890Arg)
c.2559C>G (p.Ser853Arg)
c.2595C>G (p.Ser865Arg)
 dbSNP COSMIC COSMIC
17g.31229183C>TCA499444341NF1c.2613C>T (p.Ser871=)
c.2598C>T (p.Ser866=)
c.2568C>T (p.Ser856=)
c.1566C>T (p.Ser522=)
n.735C>T
c.2343C>T
c.2670C>T (p.Ser890=)
c.2559C>T (p.Ser853=)
c.2595C>T (p.Ser865=)
 dbSNP
17g.31229184A=CA2255565102NF1c.2614A= (p.Asn872=)
c.2599A= (p.Asn867=)
c.2569A= (p.Asn857=)
c.1567A= (p.Asn523=)
n.736A=
c.2344A=
c.2671A= (p.Asn891=)
c.2560A= (p.Asn854=)
c.2596A= (p.Asn866=)
17g.31229184A>CCA16615458NF1c.2614A>C (p.Asn872His)
c.2599A>C (p.Asn867His)
c.2569A>C (p.Asn857His)
c.1567A>C (p.Asn523His)
n.736A>C
c.2344A>C
c.2671A>C (p.Asn891His)
c.2560A>C (p.Asn854His)
c.2596A>C (p.Asn866His)
 ClinVar dbSNP
17g.31229184A>GCA398984335NF1c.2614A>G (p.Asn872Asp)
c.2599A>G (p.Asn867Asp)
c.2569A>G (p.Asn857Asp)
c.1567A>G (p.Asn523Asp)
n.736A>G
c.2344A>G
c.2671A>G (p.Asn891Asp)
c.2560A>G (p.Asn854Asp)
c.2596A>G (p.Asn866Asp)
 ClinVar
17g.31229184A>TCA398984337NF1c.2614A>T (p.Asn872Tyr)
c.2599A>T (p.Asn867Tyr)
c.2569A>T (p.Asn857Tyr)
c.1567A>T (p.Asn523Tyr)
n.736A>T
c.2344A>T
c.2671A>T (p.Asn891Tyr)
c.2560A>T (p.Asn854Tyr)
c.2596A>T (p.Asn866Tyr)
 dbSNP
17g.31229185A=CA2255565106NF1c.2615A= (p.Asn872=)
c.2600A= (p.Asn867=)
c.2570A= (p.Asn857=)
c.1568A= (p.Asn523=)
n.737A=
c.2345A=
c.2672A= (p.Asn891=)
c.2561A= (p.Asn854=)
c.2597A= (p.Asn866=)
17g.31229185A>CCA398984340NF1c.2615A>C (p.Asn872Thr)
c.2600A>C (p.Asn867Thr)
c.2570A>C (p.Asn857Thr)
c.1568A>C (p.Asn523Thr)
n.737A>C
c.2345A>C
c.2672A>C (p.Asn891Thr)
c.2561A>C (p.Asn854Thr)
c.2597A>C (p.Asn866Thr)
 dbSNP
17g.31229185A>GCA16615621NF1c.2615A>G (p.Asn872Ser)
c.2600A>G (p.Asn867Ser)
c.2570A>G (p.Asn857Ser)
c.1568A>G (p.Asn523Ser)
n.737A>G
c.2345A>G
c.2672A>G (p.Asn891Ser)
c.2561A>G (p.Asn854Ser)
c.2597A>G (p.Asn866Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31229185A>TCA398984339NF1c.2615A>T (p.Asn872Ile)
c.2600A>T (p.Asn867Ile)
c.2570A>T (p.Asn857Ile)
c.1568A>T (p.Asn523Ile)
n.737A>T
c.2345A>T
c.2672A>T (p.Asn891Ile)
c.2561A>T (p.Asn854Ile)
c.2597A>T (p.Asn866Ile)
 dbSNP
17g.31229186T>ACA398984342NF1c.2616T>A (p.Asn872Lys)
c.2601T>A (p.Asn867Lys)
c.2571T>A (p.Asn857Lys)
c.1569T>A (p.Asn523Lys)
n.738T>A
c.2346T>A
c.2673T>A (p.Asn891Lys)
c.2562T>A (p.Asn854Lys)
c.2598T>A (p.Asn866Lys)
 dbSNP
17g.31229186T>CCA499444346NF1c.2616T>C (p.Asn872=)
c.2601T>C (p.Asn867=)
c.2571T>C (p.Asn857=)
c.1569T>C (p.Asn523=)
n.738T>C
c.2346T>C
c.2673T>C (p.Asn891=)
c.2562T>C (p.Asn854=)
c.2598T>C (p.Asn866=)
 dbSNP
17g.31229186T>GCA398984343NF1c.2616T>G (p.Asn872Lys)
c.2601T>G (p.Asn867Lys)
c.2571T>G (p.Asn857Lys)
c.1569T>G (p.Asn523Lys)
n.738T>G
c.2346T>G
c.2673T>G (p.Asn891Lys)
c.2562T>G (p.Asn854Lys)
c.2598T>G (p.Asn866Lys)
 dbSNP
17g.31229186delinsAGCA2695225376NF1c.2616delinsAG (p.Asn872LysfsTer8)
c.2601delinsAG (p.Asn867LysfsTer8)
c.2571delinsAG (p.Asn857LysfsTer8)
c.1569delinsAG (p.Asn523LysfsTer8)
n.738delinsAG
c.2346delinsAG
c.2673delinsAG (p.Asn891LysfsTer8)
c.2562delinsAG (p.Asn854LysfsTer8)
c.2598delinsAG (p.Asn866LysfsTer8)
17g.31229187T>ACA398984344NF1c.2617T>A (p.Ser873Thr)
c.2602T>A (p.Ser868Thr)
c.2572T>A (p.Ser858Thr)
c.1570T>A (p.Ser524Thr)
n.739T>A
c.2347T>A
c.2674T>A (p.Ser892Thr)
c.2563T>A (p.Ser855Thr)
c.2599T>A (p.Ser867Thr)
17g.31229187T>CCA161035NF1c.2617T>C (p.Ser873Pro)
c.2602T>C (p.Ser868Pro)
c.2572T>C (p.Ser858Pro)
c.1570T>C (p.Ser524Pro)
n.739T>C
c.2347T>C
c.2674T>C (p.Ser892Pro)
c.2563T>C (p.Ser855Pro)
c.2599T>C (p.Ser867Pro)
 ClinVar dbSNP gnomAD v4
17g.31229187T>GCA398984346NF1c.2617T>G (p.Ser873Ala)
c.2602T>G (p.Ser868Ala)
c.2572T>G (p.Ser858Ala)
c.1570T>G (p.Ser524Ala)
n.739T>G
c.2347T>G
c.2674T>G (p.Ser892Ala)
c.2563T>G (p.Ser855Ala)
c.2599T>G (p.Ser867Ala)
17g.31229187T=CA2255565111NF1c.2617T= (p.Ser873=)
c.2602T= (p.Ser868=)
c.2572T= (p.Ser858=)
c.1570T= (p.Ser524=)
n.739T=
c.2347T=
c.2674T= (p.Ser892=)
c.2563T= (p.Ser855=)
c.2599T= (p.Ser867=)
17g.31229188C>ACA398984348NF1c.2618C>A (p.Ser873Tyr)
c.2603C>A (p.Ser868Tyr)
c.2573C>A (p.Ser858Tyr)
c.1571C>A (p.Ser524Tyr)
n.740C>A
c.2348C>A
c.2675C>A (p.Ser892Tyr)
c.2564C>A (p.Ser855Tyr)
c.2600C>A (p.Ser867Tyr)
 COSMIC COSMIC
17g.31229188C=CA2255565121NF1c.2618C= (p.Ser873=)
c.2603C= (p.Ser868=)
c.2573C= (p.Ser858=)
c.1571C= (p.Ser524=)
n.740C=
c.2348C=
c.2675C= (p.Ser892=)
c.2564C= (p.Ser855=)
c.2600C= (p.Ser867=)
17g.31229188C>GCA191732NF1c.2618C>G (p.Ser873Cys)
c.2603C>G (p.Ser868Cys)
c.2573C>G (p.Ser858Cys)
c.1571C>G (p.Ser524Cys)
n.740C>G
c.2348C>G
c.2675C>G (p.Ser892Cys)
c.2564C>G (p.Ser855Cys)
c.2600C>G (p.Ser867Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31229188C>TCA398984349NF1c.2618C>T (p.Ser873Phe)
c.2603C>T (p.Ser868Phe)
c.2573C>T (p.Ser858Phe)
c.1571C>T (p.Ser524Phe)
n.740C>T
c.2348C>T
c.2675C>T (p.Ser892Phe)
c.2564C>T (p.Ser855Phe)
c.2600C>T (p.Ser867Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31229189T>ACA499444353NF1c.2619T>A (p.Ser873=)
c.2604T>A (p.Ser868=)
c.2574T>A (p.Ser858=)
c.1572T>A (p.Ser524=)
n.741T>A
c.2349T>A
c.2676T>A (p.Ser892=)
c.2565T>A (p.Ser855=)
c.2601T>A (p.Ser867=)
17g.31229189T>CCA499444354NF1c.2619T>C (p.Ser873=)
c.2604T>C (p.Ser868=)
c.2574T>C (p.Ser858=)
c.1572T>C (p.Ser524=)
n.741T>C
c.2349T>C
c.2676T>C (p.Ser892=)
c.2565T>C (p.Ser855=)
c.2601T>C (p.Ser867=)
17g.31229189T>GCA499444355NF1c.2619T>G (p.Ser873=)
c.2604T>G (p.Ser868=)
c.2574T>G (p.Ser858=)
c.1572T>G (p.Ser524=)
n.741T>G
c.2349T>G
c.2676T>G (p.Ser892=)
c.2565T>G (p.Ser855=)
c.2601T>G (p.Ser867=)
17g.31229190G>ACA398984352NF1c.2620G>A (p.Gly874Ser)
c.2605G>A (p.Gly869Ser)
c.2575G>A (p.Gly859Ser)
c.1573G>A (p.Gly525Ser)
n.742G>A
c.2350G>A
c.2677G>A (p.Gly893Ser)
c.2566G>A (p.Gly856Ser)
c.2602G>A (p.Gly868Ser)
 dbSNP
17g.31229190G>CCA398984355NF1c.2620G>C (p.Gly874Arg)
c.2605G>C (p.Gly869Arg)
c.2575G>C (p.Gly859Arg)
c.1573G>C (p.Gly525Arg)
n.742G>C
c.2350G>C
c.2677G>C (p.Gly893Arg)
c.2566G>C (p.Gly856Arg)
c.2602G>C (p.Gly868Arg)
 dbSNP
17g.31229190G>TCA398984353NF1c.2620G>T (p.Gly874Cys)
c.2605G>T (p.Gly869Cys)
c.2575G>T (p.Gly859Cys)
c.1573G>T (p.Gly525Cys)
n.742G>T
c.2350G>T
c.2677G>T (p.Gly893Cys)
c.2566G>T (p.Gly856Cys)
c.2602G>T (p.Gly868Cys)
 dbSNP
17g.31229191delCA2695201285NF1c.2621del (p.Gly874AlafsTer19)
c.2606del (p.Gly869AlafsTer19)
c.2576del (p.Gly859AlafsTer19)
c.1574del (p.Gly525AlafsTer19)
n.743del
c.2351del
c.2678del (p.Gly893AlafsTer19)
c.2567del (p.Gly856AlafsTer19)
c.2603del (p.Gly868AlafsTer19)
 ClinVar
17g.31229191G>ACA398984356NF1c.2621G>A (p.Gly874Asp)
c.2606G>A (p.Gly869Asp)
c.2576G>A (p.Gly859Asp)
c.1574G>A (p.Gly525Asp)
n.743G>A
c.2351G>A
c.2678G>A (p.Gly893Asp)
c.2567G>A (p.Gly856Asp)
c.2603G>A (p.Gly868Asp)
 ClinVar dbSNP
17g.31229191G>CCA10580258NF1c.2621G>C (p.Gly874Ala)
c.2606G>C (p.Gly869Ala)
c.2576G>C (p.Gly859Ala)
c.1574G>C (p.Gly525Ala)
n.743G>C
c.2351G>C
c.2678G>C (p.Gly893Ala)
c.2567G>C (p.Gly856Ala)
c.2603G>C (p.Gly868Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31229191G=CA2255565125NF1c.2621G= (p.Gly874=)
c.2606G= (p.Gly869=)
c.2576G= (p.Gly859=)
c.1574G= (p.Gly525=)
n.743G=
c.2351G=
c.2678G= (p.Gly893=)
c.2567G= (p.Gly856=)
c.2603G= (p.Gly868=)
17g.31229191G>TCA398984358NF1c.2621G>T (p.Gly874Val)
c.2606G>T (p.Gly869Val)
c.2576G>T (p.Gly859Val)
c.1574G>T (p.Gly525Val)
n.743G>T
c.2351G>T
c.2678G>T (p.Gly893Val)
c.2567G>T (p.Gly856Val)
c.2603G>T (p.Gly868Val)
 dbSNP
17g.31229192C>ACA499444359NF1c.2622C>A (p.Gly874=)
c.2607C>A (p.Gly869=)
c.2577C>A (p.Gly859=)
c.1575C>A (p.Gly525=)
n.744C>A
c.2352C>A
c.2679C>A (p.Gly893=)
c.2568C>A (p.Gly856=)
c.2604C>A (p.Gly868=)
 ClinVar dbSNP gnomAD v4
17g.31229192C=CA2255565130NF1c.2622C= (p.Gly874=)
c.2607C= (p.Gly869=)
c.2577C= (p.Gly859=)
c.1575C= (p.Gly525=)
n.744C=
c.2352C=
c.2679C= (p.Gly893=)
c.2568C= (p.Gly856=)
c.2604C= (p.Gly868=)
17g.31229192C>GCA499444360NF1c.2622C>G (p.Gly874=)
c.2607C>G (p.Gly869=)
c.2577C>G (p.Gly859=)
c.1575C>G (p.Gly525=)
n.744C>G
c.2352C>G
c.2679C>G (p.Gly893=)
c.2568C>G (p.Gly856=)
c.2604C>G (p.Gly868=)
 dbSNP
17g.31229192C>TCA8486000NF1c.2622C>T (p.Gly874=)
c.2607C>T (p.Gly869=)
c.2577C>T (p.Gly859=)
c.1575C>T (p.Gly525=)
n.744C>T
c.2352C>T
c.2679C>T (p.Gly893=)
c.2568C>T (p.Gly856=)
c.2604C>T (p.Gly868=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31229193C>ACA398984360NF1c.2623C>A (p.Leu875Met)
c.2608C>A (p.Leu870Met)
c.2578C>A (p.Leu860Met)
c.1576C>A (p.Leu526Met)
n.745C>A
c.2353C>A
c.2680C>A (p.Leu894Met)
c.2569C>A (p.Leu857Met)
c.2605C>A (p.Leu869Met)
 dbSNP
17g.31229193C=CA2255565136NF1c.2623C= (p.Leu875=)
c.2608C= (p.Leu870=)
c.2578C= (p.Leu860=)
c.1576C= (p.Leu526=)
n.745C=
c.2353C=
c.2680C= (p.Leu894=)
c.2569C= (p.Leu857=)
c.2605C= (p.Leu869=)
17g.31229193C>GCA398984361NF1c.2623C>G (p.Leu875Val)
c.2608C>G (p.Leu870Val)
c.2578C>G (p.Leu860Val)
c.1576C>G (p.Leu526Val)
n.745C>G
c.2353C>G
c.2680C>G (p.Leu894Val)
c.2569C>G (p.Leu857Val)
c.2605C>G (p.Leu869Val)
 ClinVar dbSNP
17g.31229193C>TCA499444367NF1c.2623C>T (p.Leu875=)
c.2608C>T (p.Leu870=)
c.2578C>T (p.Leu860=)
c.1576C>T (p.Leu526=)
n.745C>T
c.2353C>T
c.2680C>T (p.Leu894=)
c.2569C>T (p.Leu857=)
c.2605C>T (p.Leu869=)
 ClinVar dbSNP
17g.31229194delCA2739267356NF1c.2624del (p.Leu875ArgfsTer18)
c.2609del (p.Leu870ArgfsTer18)
c.2579del (p.Leu860ArgfsTer18)
c.1577del (p.Leu526ArgfsTer18)
n.746del
c.2354del
c.2681del (p.Leu894ArgfsTer18)
c.2570del (p.Leu857ArgfsTer18)
c.2606del (p.Leu869ArgfsTer18)
 ClinVar
17g.31229194T>ACA398984365NF1c.2624T>A (p.Leu875Gln)
c.2609T>A (p.Leu870Gln)
c.2579T>A (p.Leu860Gln)
c.1577T>A (p.Leu526Gln)
n.746T>A
c.2354T>A
c.2681T>A (p.Leu894Gln)
c.2570T>A (p.Leu857Gln)
c.2606T>A (p.Leu869Gln)
17g.31229194T>CCA398984364NF1c.2624T>C (p.Leu875Pro)
c.2609T>C (p.Leu870Pro)
c.2579T>C (p.Leu860Pro)
c.1577T>C (p.Leu526Pro)
n.746T>C
c.2354T>C
c.2681T>C (p.Leu894Pro)
c.2570T>C (p.Leu857Pro)
c.2606T>C (p.Leu869Pro)
17g.31229194T>GCA398984362NF1c.2624T>G (p.Leu875Arg)
c.2609T>G (p.Leu870Arg)
c.2579T>G (p.Leu860Arg)
c.1577T>G (p.Leu526Arg)
n.746T>G
c.2354T>G
c.2681T>G (p.Leu894Arg)
c.2570T>G (p.Leu857Arg)
c.2606T>G (p.Leu869Arg)
17g.31229195G>ACA499444368NF1c.2625G>A (p.Leu875=)
c.2610G>A (p.Leu870=)
c.2580G>A (p.Leu860=)
c.1578G>A (p.Leu526=)
n.747G>A
c.2355G>A
c.2682G>A (p.Leu894=)
c.2571G>A (p.Leu857=)
c.2607G>A (p.Leu869=)
 dbSNP gnomAD v4
17g.31229195G>CCA499444369NF1c.2625G>C (p.Leu875=)
c.2610G>C (p.Leu870=)
c.2580G>C (p.Leu860=)
c.1578G>C (p.Leu526=)
n.747G>C
c.2355G>C
c.2682G>C (p.Leu894=)
c.2571G>C (p.Leu857=)
c.2607G>C (p.Leu869=)
17g.31229195G>TCA499444370NF1c.2625G>T (p.Leu875=)
c.2610G>T (p.Leu870=)
c.2580G>T (p.Leu860=)
c.1578G>T (p.Leu526=)
n.747G>T
c.2355G>T
c.2682G>T (p.Leu894=)
c.2571G>T (p.Leu857=)
c.2607G>T (p.Leu869=)
17g.31229196delCA2695225377NF1c.2626del (p.Ala876GlnfsTer17)
c.2611del (p.Ala871GlnfsTer17)
c.2581del (p.Ala861GlnfsTer17)
c.1579del (p.Ala527GlnfsTer17)
n.748del
c.2356del
c.2683del (p.Ala895GlnfsTer17)
c.2572del (p.Ala858GlnfsTer17)
c.2608del (p.Ala870GlnfsTer17)
 dbSNP
17g.31229196G>ACA289336076NF1c.2626G>A (p.Ala876Thr)
c.2611G>A (p.Ala871Thr)
c.2581G>A (p.Ala861Thr)
c.1579G>A (p.Ala527Thr)
n.748G>A
c.2356G>A
c.2683G>A (p.Ala895Thr)
c.2572G>A (p.Ala858Thr)
c.2608G>A (p.Ala870Thr)
 ClinVar dbSNP gnomAD v4
17g.31229196G>CCA8486001NF1c.2626G>C (p.Ala876Pro)
c.2611G>C (p.Ala871Pro)
c.2581G>C (p.Ala861Pro)
c.1579G>C (p.Ala527Pro)
n.748G>C
c.2356G>C
c.2683G>C (p.Ala895Pro)
c.2572G>C (p.Ala858Pro)
c.2608G>C (p.Ala870Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31229196G=CA2255565143NF1c.2626G= (p.Ala876=)
c.2611G= (p.Ala871=)
c.2581G= (p.Ala861=)
c.1579G= (p.Ala527=)
n.748G=
c.2356G=
c.2683G= (p.Ala895=)
c.2572G= (p.Ala858=)
c.2608G= (p.Ala870=)
17g.31229196G>TCA398984367NF1c.2626G>T (p.Ala876Ser)
c.2611G>T (p.Ala871Ser)
c.2581G>T (p.Ala861Ser)
c.1579G>T (p.Ala527Ser)
n.748G>T
c.2356G>T
c.2683G>T (p.Ala895Ser)
c.2572G>T (p.Ala858Ser)
c.2608G>T (p.Ala870Ser)
 dbSNP
17g.31229197C>ACA398984369NF1c.2627C>A (p.Ala876Glu)
c.2612C>A (p.Ala871Glu)
c.2582C>A (p.Ala861Glu)
c.1580C>A (p.Ala527Glu)
n.749C>A
c.2357C>A
c.2684C>A (p.Ala895Glu)
c.2573C>A (p.Ala858Glu)
c.2609C>A (p.Ala870Glu)
 ClinVar dbSNP
17g.31229197C=CA2255565151NF1c.2627C= (p.Ala876=)
c.2612C= (p.Ala871=)
c.2582C= (p.Ala861=)
c.1580C= (p.Ala527=)
n.749C=
c.2357C=
c.2684C= (p.Ala895=)
c.2573C= (p.Ala858=)
c.2609C= (p.Ala870=)
17g.31229197C>GCA398984371NF1c.2627C>G (p.Ala876Gly)
c.2612C>G (p.Ala871Gly)
c.2582C>G (p.Ala861Gly)
c.1580C>G (p.Ala527Gly)
n.749C>G
c.2357C>G
c.2684C>G (p.Ala895Gly)
c.2573C>G (p.Ala858Gly)
c.2609C>G (p.Ala870Gly)
 dbSNP
17g.31229197C>TCA398984372NF1c.2627C>T (p.Ala876Val)
c.2612C>T (p.Ala871Val)
c.2582C>T (p.Ala861Val)
c.1580C>T (p.Ala527Val)
n.749C>T
c.2357C>T
c.2684C>T (p.Ala895Val)
c.2573C>T (p.Ala858Val)
c.2609C>T (p.Ala870Val)
 dbSNP gnomAD v4
17g.31229198A=CA2255565158NF1c.2628A= (p.Ala876=)
c.2613A= (p.Ala871=)
c.2583A= (p.Ala861=)
c.1581A= (p.Ala527=)
n.750A=
c.2358A=
c.2685A= (p.Ala895=)
c.2574A= (p.Ala858=)
c.2610A= (p.Ala870=)
17g.31229198A>CCA499444376NF1c.2628A>C (p.Ala876=)
c.2613A>C (p.Ala871=)
c.2583A>C (p.Ala861=)
c.1581A>C (p.Ala527=)
n.750A>C
c.2358A>C
c.2685A>C (p.Ala895=)
c.2574A>C (p.Ala858=)
c.2610A>C (p.Ala870=)
 dbSNP
17g.31229198A>GCA16615624NF1c.2628A>G (p.Ala876=)
c.2613A>G (p.Ala871=)
c.2583A>G (p.Ala861=)
c.1581A>G (p.Ala527=)
n.750A>G
c.2358A>G
c.2685A>G (p.Ala895=)
c.2574A>G (p.Ala858=)
c.2610A>G (p.Ala870=)
 ClinVar dbSNP gnomAD v4
17g.31229198A>TCA499444377NF1c.2628A>T (p.Ala876=)
c.2613A>T (p.Ala871=)
c.2583A>T (p.Ala861=)
c.1581A>T (p.Ala527=)
n.750A>T
c.2358A>T
c.2685A>T (p.Ala895=)
c.2574A>T (p.Ala858=)
c.2610A>T (p.Ala870=)
 dbSNP COSMIC COSMIC
17g.31229199A=CA2255565161NF1c.2629A= (p.Thr877=)
c.2614A= (p.Thr872=)
c.2584A= (p.Thr862=)
c.1582A= (p.Thr528=)
n.751A=
c.2359A=
c.2686A= (p.Thr896=)
c.2575A= (p.Thr859=)
c.2611A= (p.Thr871=)
17g.31229199A>CCA398984374NF1c.2629A>C (p.Thr877Pro)
c.2614A>C (p.Thr872Pro)
c.2584A>C (p.Thr862Pro)
c.1582A>C (p.Thr528Pro)
n.751A>C
c.2359A>C
c.2686A>C (p.Thr896Pro)
c.2575A>C (p.Thr859Pro)
c.2611A>C (p.Thr871Pro)
 dbSNP
17g.31229199A>GCA398984377NF1c.2629A>G (p.Thr877Ala)
c.2614A>G (p.Thr872Ala)
c.2584A>G (p.Thr862Ala)
c.1582A>G (p.Thr528Ala)
n.751A>G
c.2359A>G
c.2686A>G (p.Thr896Ala)
c.2575A>G (p.Thr859Ala)
c.2611A>G (p.Thr871Ala)
 ClinVar dbSNP
17g.31229199A>TCA398984375NF1c.2629A>T (p.Thr877Ser)
c.2614A>T (p.Thr872Ser)
c.2584A>T (p.Thr862Ser)
c.1582A>T (p.Thr528Ser)
n.751A>T
c.2359A>T
c.2686A>T (p.Thr896Ser)
c.2575A>T (p.Thr859Ser)
c.2611A>T (p.Thr871Ser)
 gnomAD v4
17g.31229200C>ACA398984379NF1c.2630C>A (p.Thr877Asn)
c.2615C>A (p.Thr872Asn)
c.2585C>A (p.Thr862Asn)
c.1583C>A (p.Thr528Asn)
n.752C>A
c.2360C>A
c.2687C>A (p.Thr896Asn)
c.2576C>A (p.Thr859Asn)
c.2612C>A (p.Thr871Asn)
 dbSNP gnomAD v4
17g.31229200C=CA2255565166NF1c.2630C= (p.Thr877=)
c.2615C= (p.Thr872=)
c.2585C= (p.Thr862=)
c.1583C= (p.Thr528=)
n.752C=
c.2360C=
c.2687C= (p.Thr896=)
c.2576C= (p.Thr859=)
c.2612C= (p.Thr871=)
17g.31229200C>GCA215735NF1c.2630C>G (p.Thr877Ser)
c.2615C>G (p.Thr872Ser)
c.2585C>G (p.Thr862Ser)
c.1583C>G (p.Thr528Ser)
n.752C>G
c.2360C>G
c.2687C>G (p.Thr896Ser)
c.2576C>G (p.Thr859Ser)
c.2612C>G (p.Thr871Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31229200C>TCA398984380NF1c.2630C>T (p.Thr877Ile)
c.2615C>T (p.Thr872Ile)
c.2585C>T (p.Thr862Ile)
c.1583C>T (p.Thr528Ile)
n.752C>T
c.2360C>T
c.2687C>T (p.Thr896Ile)
c.2576C>T (p.Thr859Ile)
c.2612C>T (p.Thr871Ile)
 ClinVar dbSNP
17g.31229201C>ACA499444383NF1c.2631C>A (p.Thr877=)
c.2616C>A (p.Thr872=)
c.2586C>A (p.Thr862=)
c.1584C>A (p.Thr528=)
n.753C>A
c.2361C>A
c.2688C>A (p.Thr896=)
c.2577C>A (p.Thr859=)
c.2613C>A (p.Thr871=)
 dbSNP
17g.31229201C=CA2255565171NF1c.2631C= (p.Thr877=)
c.2616C= (p.Thr872=)
c.2586C= (p.Thr862=)
c.1584C= (p.Thr528=)
n.753C=
c.2361C=
c.2688C= (p.Thr896=)
c.2577C= (p.Thr859=)
c.2613C= (p.Thr871=)
17g.31229201C>GCA499444382NF1c.2631C>G (p.Thr877=)
c.2616C>G (p.Thr872=)
c.2586C>G (p.Thr862=)
c.1584C>G (p.Thr528=)
n.753C>G
c.2361C>G
c.2688C>G (p.Thr896=)
c.2577C>G (p.Thr859=)
c.2613C>G (p.Thr871=)
 ClinVar dbSNP gnomAD v4
17g.31229201C>TCA499444381NF1c.2631C>T (p.Thr877=)
c.2616C>T (p.Thr872=)
c.2586C>T (p.Thr862=)
c.1584C>T (p.Thr528=)
n.753C>T
c.2361C>T
c.2688C>T (p.Thr896=)
c.2577C>T (p.Thr859=)
c.2613C>T (p.Thr871=)
 ClinVar dbSNP gnomAD v4
17g.31229202T>ACA398984382NF1c.2632T>A (p.Tyr878Asn)
c.2617T>A (p.Tyr873Asn)
c.2587T>A (p.Tyr863Asn)
c.1585T>A (p.Tyr529Asn)
n.754T>A
c.2362T>A
c.2689T>A (p.Tyr897Asn)
c.2578T>A (p.Tyr860Asn)
c.2614T>A (p.Tyr872Asn)
 dbSNP
17g.31229202T>CCA398984384NF1c.2632T>C (p.Tyr878His)
c.2617T>C (p.Tyr873His)
c.2587T>C (p.Tyr863His)
c.1585T>C (p.Tyr529His)
n.754T>C
c.2362T>C
c.2689T>C (p.Tyr897His)
c.2578T>C (p.Tyr860His)
c.2614T>C (p.Tyr872His)
 dbSNP
17g.31229202T>GCA398984385NF1c.2632T>G (p.Tyr878Asp)
c.2617T>G (p.Tyr873Asp)
c.2587T>G (p.Tyr863Asp)
c.1585T>G (p.Tyr529Asp)
n.754T>G
c.2362T>G
c.2689T>G (p.Tyr897Asp)
c.2578T>G (p.Tyr860Asp)
c.2614T>G (p.Tyr872Asp)
17g.31229202_31229205dupCA2695225378NF1c.2632_2635dup (p.Ser879IlefsTer2)
c.2617_2620dup (p.Ser874IlefsTer2)
c.2587_2590dup (p.Ser864IlefsTer2)
c.1585_1588dup (p.Ser530IlefsTer2)
n.754_757dup
c.2362_2365dup
c.2689_2692dup (p.Ser898IlefsTer2)
c.2578_2581dup (p.Ser861IlefsTer2)
c.2614_2617dup (p.Ser873IlefsTer2)
17g.31229203A=CA2255565177NF1c.2633A= (p.Tyr878=)
c.2618A= (p.Tyr873=)
c.2588A= (p.Tyr863=)
c.1586A= (p.Tyr529=)
n.755A=
c.2363A=
c.2690A= (p.Tyr897=)
c.2579A= (p.Tyr860=)
c.2615A= (p.Tyr872=)
17g.31229203A>CCA398984387NF1c.2633A>C (p.Tyr878Ser)
c.2618A>C (p.Tyr873Ser)
c.2588A>C (p.Tyr863Ser)
c.1586A>C (p.Tyr529Ser)
n.755A>C
c.2363A>C
c.2690A>C (p.Tyr897Ser)
c.2579A>C (p.Tyr860Ser)
c.2615A>C (p.Tyr872Ser)
 dbSNP
17g.31229203A>GCA398984388NF1c.2633A>G (p.Tyr878Cys)
c.2618A>G (p.Tyr873Cys)
c.2588A>G (p.Tyr863Cys)
c.1586A>G (p.Tyr529Cys)
n.755A>G
c.2363A>G
c.2690A>G (p.Tyr897Cys)
c.2579A>G (p.Tyr860Cys)
c.2615A>G (p.Tyr872Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31229203A>TCA398984390NF1c.2633A>T (p.Tyr878Phe)
c.2618A>T (p.Tyr873Phe)
c.2588A>T (p.Tyr863Phe)
c.1586A>T (p.Tyr529Phe)
n.755A>T
c.2363A>T
c.2690A>T (p.Tyr897Phe)
c.2579A>T (p.Tyr860Phe)
c.2615A>T (p.Tyr872Phe)
 dbSNP
17g.31229203_31229207delinsATAGCCA2255565179NF1c.2633_2637delinsATAGC (p.Tyr878=)
c.2618_2622delinsATAGC (p.Tyr873=)
c.2588_2592delinsATAGC (p.Tyr863=)
c.1586_1590delinsATAGC (p.Tyr529=)
n.755_759delinsATAGC
c.2363_2367delinsATAGC
c.2690_2694delinsATAGC (p.Tyr897=)
c.2579_2583delinsATAGC (p.Tyr860=)
c.2615_2619delinsATAGC (p.Tyr872=)
17g.31229204T>ACA398984392NF1c.2634T>A (p.Tyr878Ter)
c.2619T>A (p.Tyr873Ter)
c.2589T>A (p.Tyr863Ter)
c.1587T>A (p.Tyr529Ter)
n.756T>A
c.2364T>A
c.2691T>A (p.Tyr897Ter)
c.2580T>A (p.Tyr860Ter)
c.2616T>A (p.Tyr872Ter)
 dbSNP
17g.31229204T>CCA499444389NF1c.2634T>C (p.Tyr878=)
c.2619T>C (p.Tyr873=)
c.2589T>C (p.Tyr863=)
c.1587T>C (p.Tyr529=)
n.756T>C
c.2364T>C
c.2691T>C (p.Tyr897=)
c.2580T>C (p.Tyr860=)
c.2616T>C (p.Tyr872=)
 ClinVar dbSNP gnomAD v4
17g.31229204T>GCA169728NF1c.2634T>G (p.Tyr878Ter)
c.2619T>G (p.Tyr873Ter)
c.2589T>G (p.Tyr863Ter)
c.1587T>G (p.Tyr529Ter)
n.756T>G
c.2364T>G
c.2691T>G (p.Tyr897Ter)
c.2580T>G (p.Tyr860Ter)
c.2616T>G (p.Tyr872Ter)
 ClinVar dbSNP
17g.31229204T=CA2255565192NF1c.2634T= (p.Tyr878=)
c.2619T= (p.Tyr873=)
c.2589T= (p.Tyr863=)
c.1587T= (p.Tyr529=)
n.756T=
c.2364T=
c.2691T= (p.Tyr897=)
c.2580T= (p.Tyr860=)
c.2616T= (p.Tyr872=)
17g.31229204_31229207delCA10580259NF1c.2634_2637del (p.Ser879HisfsTer13)
c.2619_2622del (p.Ser874HisfsTer13)
c.2589_2592del (p.Ser864HisfsTer13)
c.1587_1590del (p.Ser530HisfsTer13)
n.756_759del
c.2364_2367del
c.2691_2694del (p.Ser898HisfsTer13)
c.2580_2583del (p.Ser861HisfsTer13)
c.2616_2619del (p.Ser873HisfsTer13)
 ClinVar dbSNP
17g.31229205A>CCA398984396NF1c.2635A>C (p.Ser879Arg)
c.2620A>C (p.Ser874Arg)
c.2590A>C (p.Ser864Arg)
c.1588A>C (p.Ser530Arg)
n.757A>C
c.2365A>C
c.2692A>C (p.Ser898Arg)
c.2581A>C (p.Ser861Arg)
c.2617A>C (p.Ser873Arg)
 dbSNP
17g.31229205A>GCA398984398NF1c.2635A>G (p.Ser879Gly)
c.2620A>G (p.Ser874Gly)
c.2590A>G (p.Ser864Gly)
c.1588A>G (p.Ser530Gly)
n.757A>G
c.2365A>G
c.2692A>G (p.Ser898Gly)
c.2581A>G (p.Ser861Gly)
c.2617A>G (p.Ser873Gly)
 dbSNP
17g.31229205A>TCA398984397NF1c.2635A>T (p.Ser879Cys)
c.2620A>T (p.Ser874Cys)
c.2590A>T (p.Ser864Cys)
c.1588A>T (p.Ser530Cys)
n.757A>T
c.2365A>T
c.2692A>T (p.Ser898Cys)
c.2581A>T (p.Ser861Cys)
c.2617A>T (p.Ser873Cys)
 dbSNP
17g.31229206G>ACA398984400NF1c.2636G>A (p.Ser879Asn)
c.2621G>A (p.Ser874Asn)
c.2591G>A (p.Ser864Asn)
c.1589G>A (p.Ser530Asn)
n.758G>A
c.2366G>A
c.2693G>A (p.Ser898Asn)
c.2582G>A (p.Ser861Asn)
c.2618G>A (p.Ser873Asn)
17g.31229206G>CCA398984402NF1c.2636G>C (p.Ser879Thr)
c.2621G>C (p.Ser874Thr)
c.2591G>C (p.Ser864Thr)
c.1589G>C (p.Ser530Thr)
n.758G>C
c.2366G>C
c.2693G>C (p.Ser898Thr)
c.2582G>C (p.Ser861Thr)
c.2618G>C (p.Ser873Thr)
17g.31229206G>TCA398984404NF1c.2636G>T (p.Ser879Ile)
c.2621G>T (p.Ser874Ile)
c.2591G>T (p.Ser864Ile)
c.1589G>T (p.Ser530Ile)
n.758G>T
c.2366G>T
c.2693G>T (p.Ser898Ile)
c.2582G>T (p.Ser861Ile)
c.2618G>T (p.Ser873Ile)
17g.31229207C>ACA398984406NF1c.2637C>A (p.Ser879Arg)
c.2622C>A (p.Ser874Arg)
c.2592C>A (p.Ser864Arg)
c.1590C>A (p.Ser530Arg)
n.759C>A
c.2367C>A
c.2694C>A (p.Ser898Arg)
c.2583C>A (p.Ser861Arg)
c.2619C>A (p.Ser873Arg)
 dbSNP
17g.31229207C=CA2255565201NF1c.2637C= (p.Ser879=)
c.2622C= (p.Ser874=)
c.2592C= (p.Ser864=)
c.1590C= (p.Ser530=)
n.759C=
c.2367C=
c.2694C= (p.Ser898=)
c.2583C= (p.Ser861=)
c.2619C= (p.Ser873=)
17g.31229207C>GCA398984408NF1c.2637C>G (p.Ser879Arg)
c.2622C>G (p.Ser874Arg)
c.2592C>G (p.Ser864Arg)
c.1590C>G (p.Ser530Arg)
n.759C>G
c.2367C>G
c.2694C>G (p.Ser898Arg)
c.2583C>G (p.Ser861Arg)
c.2619C>G (p.Ser873Arg)
 dbSNP
17g.31229207C>TCA8486002NF1c.2637C>T (p.Ser879=)
c.2622C>T (p.Ser874=)
c.2592C>T (p.Ser864=)
c.1590C>T (p.Ser530=)
n.759C>T
c.2367C>T
c.2694C>T (p.Ser898=)
c.2583C>T (p.Ser861=)
c.2619C>T (p.Ser873=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31229209delCA2739267357NF1c.2639del (p.Pro880HisfsTer13)
c.2624del (p.Pro875HisfsTer13)
c.2594del (p.Pro865HisfsTer13)
c.1592del (p.Pro531HisfsTer13)
n.761del
c.2369del
c.2696del (p.Pro899HisfsTer13)
c.2585del (p.Pro862HisfsTer13)
c.2621del (p.Pro874HisfsTer13)
 ClinVar
17g.31229208C>ACA398984410NF1c.2638C>A (p.Pro880Thr)
c.2623C>A (p.Pro875Thr)
c.2593C>A (p.Pro865Thr)
c.1591C>A (p.Pro531Thr)
n.760C>A
c.2368C>A
c.2695C>A (p.Pro899Thr)
c.2584C>A (p.Pro862Thr)
c.2620C>A (p.Pro874Thr)
 dbSNP
17g.31229208C>GCA398984412NF1c.2638C>G (p.Pro880Ala)
c.2623C>G (p.Pro875Ala)
c.2593C>G (p.Pro865Ala)
c.1591C>G (p.Pro531Ala)
n.760C>G
c.2368C>G
c.2695C>G (p.Pro899Ala)
c.2584C>G (p.Pro862Ala)
c.2620C>G (p.Pro874Ala)
 dbSNP
17g.31229208C>TCA398984414NF1c.2638C>T (p.Pro880Ser)
c.2623C>T (p.Pro875Ser)
c.2593C>T (p.Pro865Ser)
c.1591C>T (p.Pro531Ser)
n.760C>T
c.2368C>T
c.2695C>T (p.Pro899Ser)
c.2584C>T (p.Pro862Ser)
c.2620C>T (p.Pro874Ser)
 dbSNP
17g.31229209C>ACA398984415NF1c.2639C>A (p.Pro880Gln)
c.2624C>A (p.Pro875Gln)
c.2594C>A (p.Pro865Gln)
c.1592C>A (p.Pro531Gln)
n.761C>A
c.2369C>A
c.2696C>A (p.Pro899Gln)
c.2585C>A (p.Pro862Gln)
c.2621C>A (p.Pro874Gln)
17g.31229209C=CA2255565206NF1c.2639C= (p.Pro880=)
c.2624C= (p.Pro875=)
c.2594C= (p.Pro865=)
c.1592C= (p.Pro531=)
n.761C=
c.2369C=
c.2696C= (p.Pro899=)
c.2585C= (p.Pro862=)
c.2621C= (p.Pro874=)
17g.31229209C>GCA398984416NF1c.2639C>G (p.Pro880Arg)
c.2624C>G (p.Pro875Arg)
c.2594C>G (p.Pro865Arg)
c.1592C>G (p.Pro531Arg)
n.761C>G
c.2369C>G
c.2696C>G (p.Pro899Arg)
c.2585C>G (p.Pro862Arg)
c.2621C>G (p.Pro874Arg)
17g.31229209C>TCA195318NF1c.2639C>T (p.Pro880Leu)
c.2624C>T (p.Pro875Leu)
c.2594C>T (p.Pro865Leu)
c.1592C>T (p.Pro531Leu)
n.761C>T
c.2369C>T
c.2696C>T (p.Pro899Leu)
c.2585C>T (p.Pro862Leu)
c.2621C>T (p.Pro874Leu)
 ClinVar dbSNP
17g.31229210A=CA2255565211NF1c.2640A= (p.Pro880=)
c.2625A= (p.Pro875=)
c.2595A= (p.Pro865=)
c.1593A= (p.Pro531=)
n.762A=
c.2370A=
c.2697A= (p.Pro899=)
c.2586A= (p.Pro862=)
c.2622A= (p.Pro874=)
17g.31229210A>CCA499444404NF1c.2640A>C (p.Pro880=)
c.2625A>C (p.Pro875=)
c.2595A>C (p.Pro865=)
c.1593A>C (p.Pro531=)
n.762A>C
c.2370A>C
c.2697A>C (p.Pro899=)
c.2586A>C (p.Pro862=)
c.2622A>C (p.Pro874=)
17g.31229210A>GCA499444406NF1c.2640A>G (p.Pro880=)
c.2625A>G (p.Pro875=)
c.2595A>G (p.Pro865=)
c.1593A>G (p.Pro531=)
n.762A>G
c.2370A>G
c.2697A>G (p.Pro899=)
c.2586A>G (p.Pro862=)
c.2622A>G (p.Pro874=)
17g.31229210A>TCA499444408NF1c.2640A>T (p.Pro880=)
c.2625A>T (p.Pro875=)
c.2595A>T (p.Pro865=)
c.1593A>T (p.Pro531=)
n.762A>T
c.2370A>T
c.2697A>T (p.Pro899=)
c.2586A>T (p.Pro862=)
c.2622A>T (p.Pro874=)
17g.31229211C>ACA398984422NF1c.2641C>A (p.Pro881Thr)
c.2626C>A (p.Pro876Thr)
c.2596C>A (p.Pro866Thr)
c.1594C>A (p.Pro532Thr)
n.763C>A
c.2371C>A
c.2698C>A (p.Pro900Thr)
c.2587C>A (p.Pro863Thr)
c.2623C>A (p.Pro875Thr)
 dbSNP
17g.31229211C=CA2255565215NF1c.2641C= (p.Pro881=)
c.2626C= (p.Pro876=)
c.2596C= (p.Pro866=)
c.1594C= (p.Pro532=)
n.763C=
c.2371C=
c.2698C= (p.Pro900=)
c.2587C= (p.Pro863=)
c.2623C= (p.Pro875=)
17g.31229211C>GCA398984421NF1c.2641C>G (p.Pro881Ala)
c.2626C>G (p.Pro876Ala)
c.2596C>G (p.Pro866Ala)
c.1594C>G (p.Pro532Ala)
n.763C>G
c.2371C>G
c.2698C>G (p.Pro900Ala)
c.2587C>G (p.Pro863Ala)
c.2623C>G (p.Pro875Ala)
 dbSNP
17g.31229211C>TCA398984419NF1c.2641C>T (p.Pro881Ser)
c.2626C>T (p.Pro876Ser)
c.2596C>T (p.Pro866Ser)
c.1594C>T (p.Pro532Ser)
n.763C>T
c.2371C>T
c.2698C>T (p.Pro900Ser)
c.2587C>T (p.Pro863Ser)
c.2623C>T (p.Pro875Ser)
 ClinVar dbSNP
17g.31229213delCA2580093317NF1c.2643del (p.Met882TrpfsTer11)
c.2628del (p.Met877TrpfsTer11)
c.2598del (p.Met867TrpfsTer11)
c.1596del (p.Met533TrpfsTer11)
n.765del
c.2373del
c.2700del (p.Met901TrpfsTer11)
c.2589del (p.Met864TrpfsTer11)
c.2625del (p.Met876TrpfsTer11)
 ClinVar
17g.31229211_31229215dupCA916080618NF1c.2641_2645dup (p.Met882IlefsTer13)
c.2626_2630dup (p.Met877IlefsTer13)
c.2596_2600dup (p.Met867IlefsTer13)
c.1594_1598dup (p.Met533IlefsTer13)
n.763_767dup
c.2371_2375dup
c.2698_2702dup (p.Met901IlefsTer13)
c.2587_2591dup (p.Met864IlefsTer13)
c.2623_2627dup (p.Met876IlefsTer13)
 ClinVar dbSNP
17g.31229212C>ACA398984424NF1c.2642C>A (p.Pro881His)
c.2627C>A (p.Pro876His)
c.2597C>A (p.Pro866His)
c.1595C>A (p.Pro532His)
n.764C>A
c.2372C>A
c.2699C>A (p.Pro900His)
c.2588C>A (p.Pro863His)
c.2624C>A (p.Pro875His)
 dbSNP
17g.31229212C=CA2255565220NF1c.2642C= (p.Pro881=)
c.2627C= (p.Pro876=)
c.2597C= (p.Pro866=)
c.1595C= (p.Pro532=)
n.764C=
c.2372C=
c.2699C= (p.Pro900=)
c.2588C= (p.Pro863=)
c.2624C= (p.Pro875=)
17g.31229212C>GCA398984425NF1c.2642C>G (p.Pro881Arg)
c.2627C>G (p.Pro876Arg)
c.2597C>G (p.Pro866Arg)
c.1595C>G (p.Pro532Arg)
n.764C>G
c.2372C>G
c.2699C>G (p.Pro900Arg)
c.2588C>G (p.Pro863Arg)
c.2624C>G (p.Pro875Arg)
 dbSNP
17g.31229212C>TCA8486003NF1c.2642C>T (p.Pro881Leu)
c.2627C>T (p.Pro876Leu)
c.2597C>T (p.Pro866Leu)
c.1595C>T (p.Pro532Leu)
n.764C>T
c.2372C>T
c.2699C>T (p.Pro900Leu)
c.2588C>T (p.Pro863Leu)
c.2624C>T (p.Pro875Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31229213C>ACA499444412NF1c.2643C>A (p.Pro881=)
c.2628C>A (p.Pro876=)
c.2598C>A (p.Pro866=)
c.1596C>A (p.Pro532=)
n.765C>A
c.2373C>A
c.2700C>A (p.Pro900=)
c.2589C>A (p.Pro863=)
c.2625C>A (p.Pro875=)
 dbSNP
17g.31229213C>GCA499444414NF1c.2643C>G (p.Pro881=)
c.2628C>G (p.Pro876=)
c.2598C>G (p.Pro866=)
c.1596C>G (p.Pro532=)
n.765C>G
c.2373C>G
c.2700C>G (p.Pro900=)
c.2589C>G (p.Pro863=)
c.2625C>G (p.Pro875=)
 dbSNP
17g.31229213C>TCA499444416NF1c.2643C>T (p.Pro881=)
c.2628C>T (p.Pro876=)
c.2598C>T (p.Pro866=)
c.1596C>T (p.Pro532=)
n.765C>T
c.2373C>T
c.2700C>T (p.Pro900=)
c.2589C>T (p.Pro863=)
c.2625C>T (p.Pro875=)
 ClinVar dbSNP
17g.31229214A=CA2255565225NF1c.2644A= (p.Met882=)
c.2629A= (p.Met877=)
c.2599A= (p.Met867=)
c.1597A= (p.Met533=)
n.766A=
c.2374A=
c.2701A= (p.Met901=)
c.2590A= (p.Met864=)
c.2626A= (p.Met876=)
17g.31229214A>CCA398984428NF1c.2644A>C (p.Met882Leu)
c.2629A>C (p.Met877Leu)
c.2599A>C (p.Met867Leu)
c.1597A>C (p.Met533Leu)
n.766A>C
c.2374A>C
c.2701A>C (p.Met901Leu)
c.2590A>C (p.Met864Leu)
c.2626A>C (p.Met876Leu)
17g.31229214A>GCA348994NF1c.2644A>G (p.Met882Val)
c.2629A>G (p.Met877Val)
c.2599A>G (p.Met867Val)
c.1597A>G (p.Met533Val)
n.766A>G
c.2374A>G
c.2701A>G (p.Met901Val)
c.2590A>G (p.Met864Val)
c.2626A>G (p.Met876Val)
 ClinVar dbSNP
17g.31229214A>TCA398984429NF1c.2644A>T (p.Met882Leu)
c.2629A>T (p.Met877Leu)
c.2599A>T (p.Met867Leu)
c.1597A>T (p.Met533Leu)
n.766A>T
c.2374A>T
c.2701A>T (p.Met901Leu)
c.2590A>T (p.Met864Leu)
c.2626A>T (p.Met876Leu)
 dbSNP
17g.31229214_31229215dupCA2695201286NF1c.2644_2645dup (p.Met882IlefsTer12)
c.2629_2630dup (p.Met877IlefsTer12)
c.2599_2600dup (p.Met867IlefsTer12)
c.1597_1598dup (p.Met533IlefsTer12)
n.766_767dup
c.2374_2375dup
c.2701_2702dup (p.Met901IlefsTer12)
c.2590_2591dup (p.Met864IlefsTer12)
c.2626_2627dup (p.Met876IlefsTer12)
 ClinVar
17g.31229215T>ACA398984431NF1c.2645T>A (p.Met882Lys)
c.2630T>A (p.Met877Lys)
c.2600T>A (p.Met867Lys)
c.1598T>A (p.Met533Lys)
n.767T>A
c.2375T>A
c.2702T>A (p.Met901Lys)
c.2591T>A (p.Met864Lys)
c.2627T>A (p.Met876Lys)
17g.31229215T>CCA398984433NF1c.2645T>C (p.Met882Thr)
c.2630T>C (p.Met877Thr)
c.2600T>C (p.Met867Thr)
c.1598T>C (p.Met533Thr)
n.767T>C
c.2375T>C
c.2702T>C (p.Met901Thr)
c.2591T>C (p.Met864Thr)
c.2627T>C (p.Met876Thr)
17g.31229215T>GCA398984434NF1c.2645T>G (p.Met882Arg)
c.2630T>G (p.Met877Arg)
c.2600T>G (p.Met867Arg)
c.1598T>G (p.Met533Arg)
n.767T>G
c.2375T>G
c.2702T>G (p.Met901Arg)
c.2591T>G (p.Met864Arg)
c.2627T>G (p.Met876Arg)
17g.31229216G>ACA398984436NF1c.2646G>A (p.Met882Ile)
c.2631G>A (p.Met877Ile)
c.2601G>A (p.Met867Ile)
c.1599G>A (p.Met533Ile)
n.768G>A
c.2376G>A
c.2703G>A (p.Met901Ile)
c.2592G>A (p.Met864Ile)
c.2628G>A (p.Met876Ile)
 dbSNP
17g.31229216G>CCA398984438NF1c.2646G>C (p.Met882Ile)
c.2631G>C (p.Met877Ile)
c.2601G>C (p.Met867Ile)
c.1599G>C (p.Met533Ile)
n.768G>C
c.2376G>C
c.2703G>C (p.Met901Ile)
c.2592G>C (p.Met864Ile)
c.2628G>C (p.Met876Ile)
 dbSNP
17g.31229216G>TCA398984439NF1c.2646G>T (p.Met882Ile)
c.2631G>T (p.Met877Ile)
c.2601G>T (p.Met867Ile)
c.1599G>T (p.Met533Ile)
n.768G>T
c.2376G>T
c.2703G>T (p.Met901Ile)
c.2592G>T (p.Met864Ile)
c.2628G>T (p.Met876Ile)
 dbSNP
17g.31229217G>ACA398984441NF1c.2647G>A (p.Gly883Ser)
c.2632G>A (p.Gly878Ser)
c.2602G>A (p.Gly868Ser)
c.1600G>A (p.Gly534Ser)
n.769G>A
c.2377G>A
c.2704G>A (p.Gly902Ser)
c.2593G>A (p.Gly865Ser)
c.2629G>A (p.Gly877Ser)
 dbSNP
17g.31229217G>CCA398984444NF1c.2647G>C (p.Gly883Arg)
c.2632G>C (p.Gly878Arg)
c.2602G>C (p.Gly868Arg)
c.1600G>C (p.Gly534Arg)
n.769G>C
c.2377G>C
c.2704G>C (p.Gly902Arg)
c.2593G>C (p.Gly865Arg)
c.2629G>C (p.Gly877Arg)
 dbSNP
17g.31229217G>TCA398984442NF1c.2647G>T (p.Gly883Cys)
c.2632G>T (p.Gly878Cys)
c.2602G>T (p.Gly868Cys)
c.1600G>T (p.Gly534Cys)
n.769G>T
c.2377G>T
c.2704G>T (p.Gly902Cys)
c.2593G>T (p.Gly865Cys)
c.2629G>T (p.Gly877Cys)
 dbSNP
17g.31229218G>ACA398984446NF1c.2648G>A (p.Gly883Asp)
c.2633G>A (p.Gly878Asp)
c.2603G>A (p.Gly868Asp)
c.1601G>A (p.Gly534Asp)
n.770G>A
c.2378G>A
c.2705G>A (p.Gly902Asp)
c.2594G>A (p.Gly865Asp)
c.2630G>A (p.Gly877Asp)
 dbSNP
17g.31229218G>CCA398984449NF1c.2648G>C (p.Gly883Ala)
c.2633G>C (p.Gly878Ala)
c.2603G>C (p.Gly868Ala)
c.1601G>C (p.Gly534Ala)
n.770G>C
c.2378G>C
c.2705G>C (p.Gly902Ala)
c.2594G>C (p.Gly865Ala)
c.2630G>C (p.Gly877Ala)
 dbSNP
17g.31229218G=CA2255565231NF1c.2648G= (p.Gly883=)
c.2633G= (p.Gly878=)
c.2603G= (p.Gly868=)
c.1601G= (p.Gly534=)
n.770G=
c.2378G=
c.2705G= (p.Gly902=)
c.2594G= (p.Gly865=)
c.2630G= (p.Gly877=)
17g.31229218G>TCA398984447NF1c.2648G>T (p.Gly883Val)
c.2633G>T (p.Gly878Val)
c.2603G>T (p.Gly868Val)
c.1601G>T (p.Gly534Val)
n.770G>T
c.2378G>T
c.2705G>T (p.Gly902Val)
c.2594G>T (p.Gly865Val)
c.2630G>T (p.Gly877Val)
 dbSNP
17g.31229219delCA2695225379NF1c.2649del (p.Pro884GlnfsTer9)
c.2634del (p.Pro879GlnfsTer9)
c.2604del (p.Pro869GlnfsTer9)
c.1602del (p.Pro535GlnfsTer9)
n.771del
c.2379del
c.2706del (p.Pro903GlnfsTer9)
c.2595del (p.Pro866GlnfsTer9)
c.2631del (p.Pro878GlnfsTer9)
17g.31229219T>ACA499444425NF1c.2649T>A (p.Gly883=)
c.2634T>A (p.Gly878=)
c.2604T>A (p.Gly868=)
c.1602T>A (p.Gly534=)
n.771T>A
c.2379T>A
c.2706T>A (p.Gly902=)
c.2595T>A (p.Gly865=)
c.2631T>A (p.Gly877=)
17g.31229219T>CCA499444426NF1c.2649T>C (p.Gly883=)
c.2634T>C (p.Gly878=)
c.2604T>C (p.Gly868=)
c.1602T>C (p.Gly534=)
n.771T>C
c.2379T>C
c.2706T>C (p.Gly902=)
c.2595T>C (p.Gly865=)
c.2631T>C (p.Gly877=)
17g.31229219T>GCA499444427NF1c.2649T>G (p.Gly883=)
c.2634T>G (p.Gly878=)
c.2604T>G (p.Gly868=)
c.1602T>G (p.Gly534=)
n.771T>G
c.2379T>G
c.2706T>G (p.Gly902=)
c.2595T>G (p.Gly865=)
c.2631T>G (p.Gly877=)
 dbSNP
17g.31229219dupCA10583486NF1c.2649dup (p.Pro884SerfsTer4)
c.2634dup (p.Pro879SerfsTer4)
c.2604dup (p.Pro869SerfsTer4)
c.1602dup (p.Pro535SerfsTer4)
n.771dup
c.2379dup
c.2706dup (p.Pro903SerfsTer4)
c.2595dup (p.Pro866SerfsTer4)
c.2631dup (p.Pro878SerfsTer4)
 ClinVar dbSNP
17g.31229220C>ACA398984451NF1c.2650C>A (p.Pro884Thr)
c.2635C>A (p.Pro879Thr)
c.2605C>A (p.Pro869Thr)
c.1603C>A (p.Pro535Thr)
n.772C>A
c.2380C>A
c.2707C>A (p.Pro903Thr)
c.2596C>A (p.Pro866Thr)
c.2632C>A (p.Pro878Thr)
 dbSNP
17g.31229220C>GCA398984452NF1c.2650C>G (p.Pro884Ala)
c.2635C>G (p.Pro879Ala)
c.2605C>G (p.Pro869Ala)
c.1603C>G (p.Pro535Ala)
n.772C>G
c.2380C>G
c.2707C>G (p.Pro903Ala)
c.2596C>G (p.Pro866Ala)
c.2632C>G (p.Pro878Ala)
 dbSNP
17g.31229220C>TCA398984454NF1c.2650C>T (p.Pro884Ser)
c.2635C>T (p.Pro879Ser)
c.2605C>T (p.Pro869Ser)
c.1603C>T (p.Pro535Ser)
n.772C>T
c.2380C>T
c.2707C>T (p.Pro903Ser)
c.2596C>T (p.Pro866Ser)
c.2632C>T (p.Pro878Ser)
 dbSNP
17g.31229221delCA2733612474NF1c.2651del (p.Pro884GlnfsTer9)
c.2636del (p.Pro879GlnfsTer9)
c.2606del (p.Pro869GlnfsTer9)
c.1604del (p.Pro535GlnfsTer9)
n.773del
c.2381del
c.2708del (p.Pro903GlnfsTer9)
c.2597del (p.Pro866GlnfsTer9)
c.2633del (p.Pro878GlnfsTer9)
 dbSNP
17g.31229221C>ACA398984456NF1c.2651C>A (p.Pro884Gln)
c.2636C>A (p.Pro879Gln)
c.2606C>A (p.Pro869Gln)
c.1604C>A (p.Pro535Gln)
n.773C>A
c.2381C>A
c.2708C>A (p.Pro903Gln)
c.2597C>A (p.Pro866Gln)
c.2633C>A (p.Pro878Gln)
 dbSNP
17g.31229221C=CA2255565240NF1c.2651C= (p.Pro884=)
c.2636C= (p.Pro879=)
c.2606C= (p.Pro869=)
c.1604C= (p.Pro535=)
n.773C=
c.2381C=
c.2708C= (p.Pro903=)
c.2597C= (p.Pro866=)
c.2633C= (p.Pro878=)
17g.31229221C>GCA398984458NF1c.2651C>G (p.Pro884Arg)
c.2636C>G (p.Pro879Arg)
c.2606C>G (p.Pro869Arg)
c.1604C>G (p.Pro535Arg)
n.773C>G
c.2381C>G
c.2708C>G (p.Pro903Arg)
c.2597C>G (p.Pro866Arg)
c.2633C>G (p.Pro878Arg)
 dbSNP
17g.31229221C>TCA10583487NF1c.2651C>T (p.Pro884Leu)
c.2636C>T (p.Pro879Leu)
c.2606C>T (p.Pro869Leu)
c.1604C>T (p.Pro535Leu)
n.773C>T
c.2381C>T
c.2708C>T (p.Pro903Leu)
c.2597C>T (p.Pro866Leu)
c.2633C>T (p.Pro878Leu)
 ClinVar dbSNP
17g.31229225_31229228dupCA2831039621NF1c.2655_2658dup (p.Glu887GlnfsTer2)
c.2640_2643dup (p.Glu882GlnfsTer2)
c.2610_2613dup (p.Glu872GlnfsTer2)
c.1608_1611dup (p.Glu538GlnfsTer2)
n.777_780dup
c.2385_2388dup
c.2712_2715dup (p.Glu906GlnfsTer2)
c.2601_2604dup (p.Glu869GlnfsTer2)
c.2637_2640dup (p.Glu881GlnfsTer2)
17g.31229222delCA2580093320NF1c.2652del (p.Val885SerfsTer8)
c.2637del (p.Val880SerfsTer8)
c.2607del (p.Val870SerfsTer8)
c.1605del (p.Val536SerfsTer8)
n.774del
c.2382del
c.2709del (p.Val904SerfsTer8)
c.2598del (p.Val867SerfsTer8)
c.2634del (p.Val879SerfsTer8)
 ClinVar
17g.31229222A>CCA499444434NF1c.2652A>C (p.Pro884=)
c.2637A>C (p.Pro879=)
c.2607A>C (p.Pro869=)
c.1605A>C (p.Pro535=)
n.774A>C
c.2382A>C
c.2709A>C (p.Pro903=)
c.2598A>C (p.Pro866=)
c.2634A>C (p.Pro878=)
 gnomAD v4
17g.31229222A>GCA499444437NF1c.2652A>G (p.Pro884=)
c.2637A>G (p.Pro879=)
c.2607A>G (p.Pro869=)
c.1605A>G (p.Pro535=)
n.774A>G
c.2382A>G
c.2709A>G (p.Pro903=)
c.2598A>G (p.Pro866=)
c.2634A>G (p.Pro878=)
 dbSNP gnomAD v4
17g.31229222A>TCA499444439NF1c.2652A>T (p.Pro884=)
c.2637A>T (p.Pro879=)
c.2607A>T (p.Pro869=)
c.1605A>T (p.Pro535=)
n.774A>T
c.2382A>T
c.2709A>T (p.Pro903=)
c.2598A>T (p.Pro866=)
c.2634A>T (p.Pro878=)
 dbSNP
17g.31229222dupCA2697559730NF1c.2652dup (p.Val885SerfsTer3)
c.2637dup (p.Val880SerfsTer3)
c.2607dup (p.Val870SerfsTer3)
c.1605dup (p.Val536SerfsTer3)
n.774dup
c.2382dup
c.2709dup (p.Val904SerfsTer3)
c.2598dup (p.Val867SerfsTer3)
c.2634dup (p.Val879SerfsTer3)
 ClinVar
17g.31229223G>ACA398984460NF1c.2653G>A (p.Val885Ile)
c.2638G>A (p.Val880Ile)
c.2608G>A (p.Val870Ile)
c.1606G>A (p.Val536Ile)
n.775G>A
c.2383G>A
c.2710G>A (p.Val904Ile)
c.2599G>A (p.Val867Ile)
c.2635G>A (p.Val879Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.31229223G>CCA398984462NF1c.2653G>C (p.Val885Leu)
c.2638G>C (p.Val880Leu)
c.2608G>C (p.Val870Leu)
c.1606G>C (p.Val536Leu)
n.775G>C
c.2383G>C
c.2710G>C (p.Val904Leu)
c.2599G>C (p.Val867Leu)
c.2635G>C (p.Val879Leu)
 ClinVar dbSNP
17g.31229223G=CA2255565245NF1c.2653G= (p.Val885=)
c.2638G= (p.Val880=)
c.2608G= (p.Val870=)
c.1606G= (p.Val536=)
n.775G=
c.2383G=
c.2710G= (p.Val904=)
c.2599G= (p.Val867=)
c.2635G= (p.Val879=)
17g.31229223G>TCA398984464NF1c.2653G>T (p.Val885Phe)
c.2638G>T (p.Val880Phe)
c.2608G>T (p.Val870Phe)
c.1606G>T (p.Val536Phe)
n.775G>T
c.2383G>T
c.2710G>T (p.Val904Phe)
c.2599G>T (p.Val867Phe)
c.2635G>T (p.Val879Phe)
 ClinVar
17g.31229224T>ACA398984465NF1c.2654T>A (p.Val885Asp)
c.2639T>A (p.Val880Asp)
c.2609T>A (p.Val870Asp)
c.1607T>A (p.Val536Asp)
n.776T>A
c.2384T>A
c.2711T>A (p.Val904Asp)
c.2600T>A (p.Val867Asp)
c.2636T>A (p.Val879Asp)
 dbSNP
17g.31229224T>CCA8486004NF1c.2654T>C (p.Val885Ala)
c.2639T>C (p.Val880Ala)
c.2609T>C (p.Val870Ala)
c.1607T>C (p.Val536Ala)
n.776T>C
c.2384T>C
c.2711T>C (p.Val904Ala)
c.2600T>C (p.Val867Ala)
c.2636T>C (p.Val879Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31229224T>GCA398984467NF1c.2654T>G (p.Val885Gly)
c.2639T>G (p.Val880Gly)
c.2609T>G (p.Val870Gly)
c.1607T>G (p.Val536Gly)
n.776T>G
c.2384T>G
c.2711T>G (p.Val904Gly)
c.2600T>G (p.Val867Gly)
c.2636T>G (p.Val879Gly)
 dbSNP
17g.31229224T=CA2255565248NF1c.2654T= (p.Val885=)
c.2639T= (p.Val880=)
c.2609T= (p.Val870=)
c.1607T= (p.Val536=)
n.776T=
c.2384T=
c.2711T= (p.Val904=)
c.2600T= (p.Val867=)
c.2636T= (p.Val879=)
17g.31229225C>ACA499444442NF1c.2655C>A (p.Val885=)
c.2640C>A (p.Val880=)
c.2610C>A (p.Val870=)
c.1608C>A (p.Val536=)
n.777C>A
c.2385C>A
c.2712C>A (p.Val904=)
c.2601C>A (p.Val867=)
c.2637C>A (p.Val879=)
 dbSNP
17g.31229225C>GCA499444443NF1c.2655C>G (p.Val885=)
c.2640C>G (p.Val880=)
c.2610C>G (p.Val870=)
c.1608C>G (p.Val536=)
n.777C>G
c.2385C>G
c.2712C>G (p.Val904=)
c.2601C>G (p.Val867=)
c.2637C>G (p.Val879=)
 dbSNP
17g.31229225C>TCA499444445NF1c.2655C>T (p.Val885=)
c.2640C>T (p.Val880=)
c.2610C>T (p.Val870=)
c.1608C>T (p.Val536=)
n.777C>T
c.2385C>T
c.2712C>T (p.Val904=)
c.2601C>T (p.Val867=)
c.2637C>T (p.Val879=)
 dbSNP
17g.31229226A=CA2255565252NF1c.2656A= (p.Ser886=)
c.2641A= (p.Ser881=)
c.2611A= (p.Ser871=)
c.1609A= (p.Ser537=)
n.778A=
c.2386A=
c.2713A= (p.Ser905=)
c.2602A= (p.Ser868=)
c.2638A= (p.Ser880=)
17g.31229226A>CCA398984471NF1c.2656A>C (p.Ser886Arg)
c.2641A>C (p.Ser881Arg)
c.2611A>C (p.Ser871Arg)
c.1609A>C (p.Ser537Arg)
n.778A>C
c.2386A>C
c.2713A>C (p.Ser905Arg)
c.2602A>C (p.Ser868Arg)
c.2638A>C (p.Ser880Arg)
17g.31229226A>GCA398984469NF1c.2656A>G (p.Ser886Gly)
c.2641A>G (p.Ser881Gly)
c.2611A>G (p.Ser871Gly)
c.1609A>G (p.Ser537Gly)
n.778A>G
c.2386A>G
c.2713A>G (p.Ser905Gly)
c.2602A>G (p.Ser868Gly)
c.2638A>G (p.Ser880Gly)
 ClinVar dbSNP
17g.31229226A>TCA398984470NF1c.2656A>T (p.Ser886Cys)
c.2641A>T (p.Ser881Cys)
c.2611A>T (p.Ser871Cys)
c.1609A>T (p.Ser537Cys)
n.778A>T
c.2386A>T
c.2713A>T (p.Ser905Cys)
c.2602A>T (p.Ser868Cys)
c.2638A>T (p.Ser880Cys)
 dbSNP
17g.31229227G>ACA398984474NF1c.2657G>A (p.Ser886Asn)
c.2642G>A (p.Ser881Asn)
c.2612G>A (p.Ser871Asn)
c.1610G>A (p.Ser537Asn)
n.779G>A
c.2387G>A
c.2714G>A (p.Ser905Asn)
c.2603G>A (p.Ser868Asn)
c.2639G>A (p.Ser880Asn)
 dbSNP
17g.31229227G>CCA398984476NF1c.2657G>C (p.Ser886Thr)
c.2642G>C (p.Ser881Thr)
c.2612G>C (p.Ser871Thr)
c.1610G>C (p.Ser537Thr)
n.779G>C
c.2387G>C
c.2714G>C (p.Ser905Thr)
c.2603G>C (p.Ser868Thr)
c.2639G>C (p.Ser880Thr)
 dbSNP
17g.31229227G>TCA398984477NF1c.2657G>T (p.Ser886Ile)
c.2642G>T (p.Ser881Ile)
c.2612G>T (p.Ser871Ile)
c.1610G>T (p.Ser537Ile)
n.779G>T
c.2387G>T
c.2714G>T (p.Ser905Ile)
c.2603G>T (p.Ser868Ile)
c.2639G>T (p.Ser880Ile)
17g.31229228T>ACA398984478NF1c.2658T>A (p.Ser886Arg)
c.2643T>A (p.Ser881Arg)
c.2613T>A (p.Ser871Arg)
c.1611T>A (p.Ser537Arg)
n.780T>A
c.2388T>A
c.2715T>A (p.Ser905Arg)
c.2604T>A (p.Ser868Arg)
c.2640T>A (p.Ser880Arg)
 dbSNP
17g.31229228T>CCA499444450NF1c.2658T>C (p.Ser886=)
c.2643T>C (p.Ser881=)
c.2613T>C (p.Ser871=)
c.1611T>C (p.Ser537=)
n.780T>C
c.2388T>C
c.2715T>C (p.Ser905=)
c.2604T>C (p.Ser868=)
c.2640T>C (p.Ser880=)
 dbSNP
17g.31229228T>GCA398984479NF1c.2658T>G (p.Ser886Arg)
c.2643T>G (p.Ser881Arg)
c.2613T>G (p.Ser871Arg)
c.1611T>G (p.Ser537Arg)
n.780T>G
c.2388T>G
c.2715T>G (p.Ser905Arg)
c.2604T>G (p.Ser868Arg)
c.2640T>G (p.Ser880Arg)
 dbSNP
17g.31229229G>ACA398984480NF1c.2659G>A (p.Glu887Lys)
c.2644G>A (p.Glu882Lys)
c.2614G>A (p.Glu872Lys)
c.1612G>A (p.Glu538Lys)
n.781G>A
c.2389G>A
c.2716G>A (p.Glu906Lys)
c.2605G>A (p.Glu869Lys)
c.2641G>A (p.Glu881Lys)
 ClinVar dbSNP COSMIC COSMIC
17g.31229229G>CCA398984482NF1c.2659G>C (p.Glu887Gln)
c.2644G>C (p.Glu882Gln)
c.2614G>C (p.Glu872Gln)
c.1612G>C (p.Glu538Gln)
n.781G>C
c.2389G>C
c.2716G>C (p.Glu906Gln)
c.2605G>C (p.Glu869Gln)
c.2641G>C (p.Glu881Gln)
 dbSNP
17g.31229229G>TCA398984484NF1c.2659G>T (p.Glu887Ter)
c.2644G>T (p.Glu882Ter)
c.2614G>T (p.Glu872Ter)
c.1612G>T (p.Glu538Ter)
n.781G>T
c.2389G>T
c.2716G>T (p.Glu906Ter)
c.2605G>T (p.Glu869Ter)
c.2641G>T (p.Glu881Ter)
 ClinVar dbSNP
17g.31229229_31229230insCGCA658761021NF1c.2659_2660insCG (p.Glu887AlafsTer7)
c.2644_2645insCG (p.Glu882AlafsTer7)
c.2614_2615insCG (p.Glu872AlafsTer7)
c.1612_1613insCG (p.Glu538AlafsTer7)
n.781_782insCG
c.2389_2390insCG
c.2716_2717insCG (p.Glu906AlafsTer7)
c.2605_2606insCG (p.Glu869AlafsTer7)
c.2641_2642insCG (p.Glu881AlafsTer7)
17g.31229230A>CCA398984486NF1c.2660A>C (p.Glu887Ala)
c.2645A>C (p.Glu882Ala)
c.2615A>C (p.Glu872Ala)
c.1613A>C (p.Glu538Ala)
n.782A>C
c.2390A>C
c.2717A>C (p.Glu906Ala)
c.2606A>C (p.Glu869Ala)
c.2642A>C (p.Glu881Ala)
 dbSNP
17g.31229230A>GCA398984487NF1c.2660A>G (p.Glu887Gly)
c.2645A>G (p.Glu882Gly)
c.2615A>G (p.Glu872Gly)
c.1613A>G (p.Glu538Gly)
n.782A>G
c.2390A>G
c.2717A>G (p.Glu906Gly)
c.2606A>G (p.Glu869Gly)
c.2642A>G (p.Glu881Gly)
 ClinVar dbSNP
17g.31229230A>TCA398984490NF1c.2660A>T (p.Glu887Val)
c.2645A>T (p.Glu882Val)
c.2615A>T (p.Glu872Val)
c.1613A>T (p.Glu538Val)
n.782A>T
c.2390A>T
c.2717A>T (p.Glu906Val)
c.2606A>T (p.Glu869Val)
c.2642A>T (p.Glu881Val)
 dbSNP
17g.31229231A>CCA398984492NF1c.2661A>C (p.Glu887Asp)
c.2646A>C (p.Glu882Asp)
c.2616A>C (p.Glu872Asp)
c.1614A>C (p.Glu538Asp)
n.783A>C
c.2391A>C
c.2718A>C (p.Glu906Asp)
c.2607A>C (p.Glu869Asp)
c.2643A>C (p.Glu881Asp)
 dbSNP
17g.31229231A>GCA499444453NF1c.2661A>G (p.Glu887=)
c.2646A>G (p.Glu882=)
c.2616A>G (p.Glu872=)
c.1614A>G (p.Glu538=)
n.783A>G
c.2391A>G
c.2718A>G (p.Glu906=)
c.2607A>G (p.Glu869=)
c.2643A>G (p.Glu881=)
17g.31229231A>TCA398984493NF1c.2661A>T (p.Glu887Asp)
c.2646A>T (p.Glu882Asp)
c.2616A>T (p.Glu872Asp)
c.1614A>T (p.Glu538Asp)
n.783A>T
c.2391A>T
c.2718A>T (p.Glu906Asp)
c.2607A>T (p.Glu869Asp)
c.2643A>T (p.Glu881Asp)
17g.31229232C>ACA398984495NF1c.2662C>A (p.Arg888Ser)
c.2647C>A (p.Arg883Ser)
c.2617C>A (p.Arg873Ser)
c.1615C>A (p.Arg539Ser)
n.784C>A
c.2392C>A
c.2719C>A (p.Arg907Ser)
c.2608C>A (p.Arg870Ser)
c.2644C>A (p.Arg882Ser)
 ClinVar dbSNP
17g.31229232C=CA2255565259NF1c.2662C= (p.Arg888=)
c.2647C= (p.Arg883=)
c.2617C= (p.Arg873=)
c.1615C= (p.Arg539=)
n.784C=
c.2392C=
c.2719C= (p.Arg907=)
c.2608C= (p.Arg870=)
c.2644C= (p.Arg882=)
17g.31229232C>GCA398984498NF1c.2662C>G (p.Arg888Gly)
c.2647C>G (p.Arg883Gly)
c.2617C>G (p.Arg873Gly)
c.1615C>G (p.Arg539Gly)
n.784C>G
c.2392C>G
c.2719C>G (p.Arg907Gly)
c.2608C>G (p.Arg870Gly)
c.2644C>G (p.Arg882Gly)
 ClinVar dbSNP
17g.31229232C>TCA219485NF1c.2662C>T (p.Arg888Cys)
c.2647C>T (p.Arg883Cys)
c.2617C>T (p.Arg873Cys)
c.1615C>T (p.Arg539Cys)
n.784C>T
c.2392C>T
c.2719C>T (p.Arg907Cys)
c.2608C>T (p.Arg870Cys)
c.2644C>T (p.Arg882Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.31229233G>ACA289336163NF1c.2663G>A (p.Arg888His)
c.2648G>A (p.Arg883His)
c.2618G>A (p.Arg873His)
c.1616G>A (p.Arg539His)
n.785G>A
c.2393G>A
c.2720G>A (p.Arg907His)
c.2609G>A (p.Arg870His)
c.2645G>A (p.Arg882His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31229233G>CCA398984499NF1c.2663G>C (p.Arg888Pro)
c.2648G>C (p.Arg883Pro)
c.2618G>C (p.Arg873Pro)
c.1616G>C (p.Arg539Pro)
n.785G>C
c.2393G>C
c.2720G>C (p.Arg907Pro)
c.2609G>C (p.Arg870Pro)
c.2645G>C (p.Arg882Pro)
 ClinVar dbSNP
17g.31229233G=CA2255565277NF1c.2663G= (p.Arg888=)
c.2648G= (p.Arg883=)
c.2618G= (p.Arg873=)
c.1616G= (p.Arg539=)
n.785G=
c.2393G=
c.2720G= (p.Arg907=)
c.2609G= (p.Arg870=)
c.2645G= (p.Arg882=)
17g.31229233G>TCA398984500NF1c.2663G>T (p.Arg888Leu)
c.2648G>T (p.Arg883Leu)
c.2618G>T (p.Arg873Leu)
c.1616G>T (p.Arg539Leu)
n.785G>T
c.2393G>T
c.2720G>T (p.Arg907Leu)
c.2609G>T (p.Arg870Leu)
c.2645G>T (p.Arg882Leu)
 ClinVar dbSNP gnomAD v4
17g.31229234_31229237dupCA915949795NF1c.2664_2667dup (p.Gly890Ter)
c.2649_2652dup (p.Gly885Ter)
c.2619_2622dup (p.Gly875Ter)
c.1617_1620dup (p.Gly541Ter)
n.786_789dup
c.2394_2397dup
c.2721_2724dup (p.Gly909Ter)
c.2610_2613dup (p.Gly872Ter)
c.2646_2649dup (p.Gly884Ter)
 ClinVar dbSNP
17g.31229234T>ACA499444458NF1c.2664T>A (p.Arg888=)
c.2649T>A (p.Arg883=)
c.2619T>A (p.Arg873=)
c.1617T>A (p.Arg539=)
n.786T>A
c.2394T>A
c.2721T>A (p.Arg907=)
c.2610T>A (p.Arg870=)
c.2646T>A (p.Arg882=)
17g.31229234T>CCA8486005NF1c.2664T>C (p.Arg888=)
c.2649T>C (p.Arg883=)
c.2619T>C (p.Arg873=)
c.1617T>C (p.Arg539=)
n.786T>C
c.2394T>C
c.2721T>C (p.Arg907=)
c.2610T>C (p.Arg870=)
c.2646T>C (p.Arg882=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31229234T>GCA499444460NF1c.2664T>G (p.Arg888=)
c.2649T>G (p.Arg883=)
c.2619T>G (p.Arg873=)
c.1617T>G (p.Arg539=)
n.786T>G
c.2394T>G
c.2721T>G (p.Arg907=)
c.2610T>G (p.Arg870=)
c.2646T>G (p.Arg882=)
17g.31229234T=CA2255565293NF1c.2664T= (p.Arg888=)
c.2649T= (p.Arg883=)
c.2619T= (p.Arg873=)
c.1617T= (p.Arg539=)
n.786T=
c.2394T=
c.2721T= (p.Arg907=)
c.2610T= (p.Arg870=)
c.2646T= (p.Arg882=)
17g.31229234dupCA16615175NF1c.2664dup (p.Lys889Ter)
c.2649dup (p.Lys884Ter)
c.2619dup (p.Lys874Ter)
c.1617dup (p.Lys540Ter)
n.786dup
c.2394dup
c.2721dup (p.Lys908Ter)
c.2610dup (p.Lys871Ter)
c.2646dup (p.Lys883Ter)
 ClinVar dbSNP
17g.31229235A=CA2255565303NF1c.2665A= (p.Lys889=)
c.2650A= (p.Lys884=)
c.2620A= (p.Lys874=)
c.1618A= (p.Lys540=)
n.787A=
c.2395A=
c.2722A= (p.Lys908=)
c.2611A= (p.Lys871=)
c.2647A= (p.Lys883=)
17g.31229235A>CCA398984504NF1c.2665A>C (p.Lys889Gln)
c.2650A>C (p.Lys884Gln)
c.2620A>C (p.Lys874Gln)
c.1618A>C (p.Lys540Gln)
n.787A>C
c.2395A>C
c.2722A>C (p.Lys908Gln)
c.2611A>C (p.Lys871Gln)
c.2647A>C (p.Lys883Gln)
 dbSNP gnomAD v4
17g.31229235A>GCA398984505NF1c.2665A>G (p.Lys889Glu)
c.2650A>G (p.Lys884Glu)
c.2620A>G (p.Lys874Glu)
c.1618A>G (p.Lys540Glu)
n.787A>G
c.2395A>G
c.2722A>G (p.Lys908Glu)
c.2611A>G (p.Lys871Glu)
c.2647A>G (p.Lys883Glu)
17g.31229235A>TCA398984506NF1c.2665A>T (p.Lys889Ter)
c.2650A>T (p.Lys884Ter)
c.2620A>T (p.Lys874Ter)
c.1618A>T (p.Lys540Ter)
n.787A>T
c.2395A>T
c.2722A>T (p.Lys908Ter)
c.2611A>T (p.Lys871Ter)
c.2647A>T (p.Lys883Ter)
 ClinVar dbSNP
17g.31229235_31229243delinsAAGGGTTCTCA2255565302NF1c.2665_2673delinsAAGGGTTCT (p.Lys889=)
c.2650_2658delinsAAGGGTTCT (p.Lys884=)
c.2620_2628delinsAAGGGTTCT (p.Lys874=)
c.1618_1626delinsAAGGGTTCT (p.Lys540=)
n.787_795delinsAAGGGTTCT
c.2395_2403delinsAAGGGTTCT
c.2722_2730delinsAAGGGTTCT (p.Lys908=)
c.2611_2619delinsAAGGGTTCT (p.Lys871=)
c.2647_2655delinsAAGGGTTCT (p.Lys883=)
17g.31229236A>CCA398984508NF1c.2666A>C (p.Lys889Thr)
c.2651A>C (p.Lys884Thr)
c.2621A>C (p.Lys874Thr)
c.1619A>C (p.Lys540Thr)
n.788A>C
c.2396A>C
c.2723A>C (p.Lys908Thr)
c.2612A>C (p.Lys871Thr)
c.2648A>C (p.Lys883Thr)
17g.31229236A>GCA398984509NF1c.2666A>G (p.Lys889Arg)
c.2651A>G (p.Lys884Arg)
c.2621A>G (p.Lys874Arg)
c.1619A>G (p.Lys540Arg)
n.788A>G
c.2396A>G
c.2723A>G (p.Lys908Arg)
c.2612A>G (p.Lys871Arg)
c.2648A>G (p.Lys883Arg)
17g.31229236A>TCA398984510NF1c.2666A>T (p.Lys889Met)
c.2651A>T (p.Lys884Met)
c.2621A>T (p.Lys874Met)
c.1619A>T (p.Lys540Met)
n.788A>T
c.2396A>T
c.2723A>T (p.Lys908Met)
c.2612A>T (p.Lys871Met)
c.2648A>T (p.Lys883Met)
17g.31229237_31229244delCA891844374NF1c.2667_2674del (p.Lys889AsnfsTer29)
c.2652_2659del (p.Lys884AsnfsTer29)
c.2622_2629del (p.Lys874AsnfsTer29)
c.1620_1627del (p.Lys540AsnfsTer29)
n.789_796del
c.2397_2404del
c.2724_2731del (p.Lys908AsnfsTer29)
c.2613_2620del (p.Lys871AsnfsTer29)
c.2649_2656del (p.Lys883AsnfsTer29)
 ClinVar dbSNP
17g.31229236_31229249dupCA915949796NF1c.2666_2679dup (p.Ser894ArgfsTer4)
c.2651_2664dup (p.Ser889ArgfsTer4)
c.2621_2634dup (p.Ser879ArgfsTer4)
c.1619_1632dup (p.Ser545ArgfsTer4)
n.788_801dup
c.2396_2409dup
c.2723_2736dup (p.Ser913ArgfsTer4)
c.2612_2625dup (p.Ser876ArgfsTer4)
c.2648_2661dup (p.Ser888ArgfsTer4)
 ClinVar dbSNP
17g.31229237G>ACA189226NF1c.2667G>A (p.Lys889=)
c.2652G>A (p.Lys884=)
c.2622G>A (p.Lys874=)
c.1620G>A (p.Lys540=)
n.789G>A
c.2397G>A
c.2724G>A (p.Lys908=)
c.2613G>A (p.Lys871=)
c.2649G>A (p.Lys883=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31229237G>CCA398984515NF1c.2667G>C (p.Lys889Asn)
c.2652G>C (p.Lys884Asn)
c.2622G>C (p.Lys874Asn)
c.1620G>C (p.Lys540Asn)
n.789G>C
c.2397G>C
c.2724G>C (p.Lys908Asn)
c.2613G>C (p.Lys871Asn)
c.2649G>C (p.Lys883Asn)
 dbSNP
17g.31229237G=CA2255565314NF1c.2667G= (p.Lys889=)
c.2652G= (p.Lys884=)
c.2622G= (p.Lys874=)
c.1620G= (p.Lys540=)
n.789G=
c.2397G=
c.2724G= (p.Lys908=)
c.2613G= (p.Lys871=)
c.2649G= (p.Lys883=)
17g.31229237G>TCA398984514NF1c.2667G>T (p.Lys889Asn)
c.2652G>T (p.Lys884Asn)
c.2622G>T (p.Lys874Asn)
c.1620G>T (p.Lys540Asn)
n.789G>T
c.2397G>T
c.2724G>T (p.Lys908Asn)
c.2613G>T (p.Lys871Asn)
c.2649G>T (p.Lys883Asn)
 dbSNP
17g.31229239delCA2695225380NF1c.2669del (p.Gly890ValfsTer3)
c.2654del (p.Gly885ValfsTer3)
c.2624del (p.Gly875ValfsTer3)
c.1622del (p.Gly541ValfsTer3)
n.791del
c.2399del
c.2726del (p.Gly909ValfsTer3)
c.2615del (p.Gly872ValfsTer3)
c.2651del (p.Gly884ValfsTer3)
17g.31229237_31229238insACA166117NF1c.2667_2668insA (p.Gly890ArgfsTer?)
c.2652_2653insA (p.Gly885ArgfsTer?)
c.2622_2623insA (p.Gly875ArgfsTer?)
c.1620_1621insA (p.Gly541ArgfsTer?)
n.789_790insA
c.2397_2398insA
c.2724_2725insA (p.Gly909ArgfsTer?)
c.2613_2614insA (p.Gly872ArgfsTer?)
c.2649_2650insA (p.Gly884ArgfsTer?)
 ClinVar dbSNP
17g.31229238G>ACA8486006NF1c.2668G>A (p.Gly890Ser)
c.2653G>A (p.Gly885Ser)
c.2623G>A (p.Gly875Ser)
c.1621G>A (p.Gly541Ser)
n.790G>A
c.2398G>A
c.2725G>A (p.Gly909Ser)
c.2614G>A (p.Gly872Ser)
c.2650G>A (p.Gly884Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31229238G>CCA398984519NF1c.2668G>C (p.Gly890Arg)
c.2653G>C (p.Gly885Arg)
c.2623G>C (p.Gly875Arg)
c.1621G>C (p.Gly541Arg)
n.790G>C
c.2398G>C
c.2725G>C (p.Gly909Arg)
c.2614G>C (p.Gly872Arg)
c.2650G>C (p.Gly884Arg)
 ClinVar dbSNP gnomAD v4
17g.31229238G=CA2255565320NF1c.2668G= (p.Gly890=)
c.2653G= (p.Gly885=)
c.2623G= (p.Gly875=)
c.1621G= (p.Gly541=)
n.790G=
c.2398G=
c.2725G= (p.Gly909=)
c.2614G= (p.Gly872=)
c.2650G= (p.Gly884=)
17g.31229238G>TCA398984520NF1c.2668G>T (p.Gly890Cys)
c.2653G>T (p.Gly885Cys)
c.2623G>T (p.Gly875Cys)
c.1621G>T (p.Gly541Cys)
n.790G>T
c.2398G>T
c.2725G>T (p.Gly909Cys)
c.2614G>T (p.Gly872Cys)
c.2650G>T (p.Gly884Cys)
 ClinVar dbSNP
17g.31229239G>ACA398984522NF1c.2669G>A (p.Gly890Asp)
c.2654G>A (p.Gly885Asp)
c.2624G>A (p.Gly875Asp)
c.1622G>A (p.Gly541Asp)
n.791G>A
c.2399G>A
c.2726G>A (p.Gly909Asp)
c.2615G>A (p.Gly872Asp)
c.2651G>A (p.Gly884Asp)
 ClinVar dbSNP
17g.31229239G>CCA398984524NF1c.2669G>C (p.Gly890Ala)
c.2654G>C (p.Gly885Ala)
c.2624G>C (p.Gly875Ala)
c.1622G>C (p.Gly541Ala)
n.791G>C
c.2399G>C
c.2726G>C (p.Gly909Ala)
c.2615G>C (p.Gly872Ala)
c.2651G>C (p.Gly884Ala)
 dbSNP
17g.31229239G=CA2255565324NF1c.2669G= (p.Gly890=)
c.2654G= (p.Gly885=)
c.2624G= (p.Gly875=)
c.1622G= (p.Gly541=)
n.791G=
c.2399G=
c.2726G= (p.Gly909=)
c.2615G= (p.Gly872=)
c.2651G= (p.Gly884=)
17g.31229239G>TCA8486007NF1c.2669G>T (p.Gly890Val)
c.2654G>T (p.Gly885Val)
c.2624G>T (p.Gly875Val)
c.1622G>T (p.Gly541Val)
n.791G>T
c.2399G>T
c.2726G>T (p.Gly909Val)
c.2615G>T (p.Gly872Val)
c.2651G>T (p.Gly884Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31229239_31229240delinsGTCA2255565323NF1c.2669_2670delinsGT (p.Gly890=)
c.2654_2655delinsGT (p.Gly885=)
c.2624_2625delinsGT (p.Gly875=)
c.1622_1623delinsGT (p.Gly541=)
n.791_792delinsGT
c.2399_2400delinsGT
c.2726_2727delinsGT (p.Gly909=)
c.2615_2616delinsGT (p.Gly872=)
c.2651_2652delinsGT (p.Gly884=)
17g.31229240T>ACA499444475NF1c.2670T>A (p.Gly890=)
c.2655T>A (p.Gly885=)
c.2625T>A (p.Gly875=)
c.1623T>A (p.Gly541=)
n.792T>A
c.2400T>A
c.2727T>A (p.Gly909=)
c.2616T>A (p.Gly872=)
c.2652T>A (p.Gly884=)
17g.31229240T>CCA499444476NF1c.2670T>C (p.Gly890=)
c.2655T>C (p.Gly885=)
c.2625T>C (p.Gly875=)
c.1623T>C (p.Gly541=)
n.792T>C
c.2400T>C
c.2727T>C (p.Gly909=)
c.2616T>C (p.Gly872=)
c.2652T>C (p.Gly884=)
 ClinVar
17g.31229240T>GCA499444477NF1c.2670T>G (p.Gly890=)
c.2655T>G (p.Gly885=)
c.2625T>G (p.Gly875=)
c.1623T>G (p.Gly541=)
n.792T>G
c.2400T>G
c.2727T>G (p.Gly909=)
c.2616T>G (p.Gly872=)
c.2652T>G (p.Gly884=)
 ClinVar dbSNP
17g.31229240T=CA2255565334NF1c.2670T= (p.Gly890=)
c.2655T= (p.Gly885=)
c.2625T= (p.Gly875=)
c.1623T= (p.Gly541=)
n.792T=
c.2400T=
c.2727T= (p.Gly909=)
c.2616T= (p.Gly872=)
c.2652T= (p.Gly884=)
17g.31229241dupCA2573153305NF1c.2671dup (p.Ser891PhefsTer30)
c.2656dup (p.Ser886PhefsTer30)
c.2626dup (p.Ser876PhefsTer30)
c.1624dup (p.Ser542PhefsTer30)
n.793dup
c.2401dup
c.2728dup (p.Ser910PhefsTer30)
c.2617dup (p.Ser873PhefsTer30)
c.2653dup (p.Ser885PhefsTer30)
 ClinVar dbSNP
17g.31229241delCA8486008NF1c.2671del (p.Ser891LeufsTer2)
c.2656del (p.Ser886LeufsTer2)
c.2626del (p.Ser876LeufsTer2)
c.1624del (p.Ser542LeufsTer2)
n.793del
c.2401del
c.2728del (p.Ser910LeufsTer2)
c.2617del (p.Ser873LeufsTer2)
c.2653del (p.Ser885LeufsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31229241T>ACA398984527NF1c.2671T>A (p.Ser891Thr)
c.2656T>A (p.Ser886Thr)
c.2626T>A (p.Ser876Thr)
c.1624T>A (p.Ser542Thr)
n.793T>A
c.2401T>A
c.2728T>A (p.Ser910Thr)
c.2617T>A (p.Ser873Thr)
c.2653T>A (p.Ser885Thr)
 dbSNP
17g.31229241T>CCA398984528NF1c.2671T>C (p.Ser891Pro)
c.2656T>C (p.Ser886Pro)
c.2626T>C (p.Ser876Pro)
c.1624T>C (p.Ser542Pro)
n.793T>C
c.2401T>C
c.2728T>C (p.Ser910Pro)
c.2617T>C (p.Ser873Pro)
c.2653T>C (p.Ser885Pro)
 dbSNP
17g.31229241T>GCA398984530NF1c.2671T>G (p.Ser891Ala)
c.2656T>G (p.Ser886Ala)
c.2626T>G (p.Ser876Ala)
c.1624T>G (p.Ser542Ala)
n.793T>G
c.2401T>G
c.2728T>G (p.Ser910Ala)
c.2617T>G (p.Ser873Ala)
c.2653T>G (p.Ser885Ala)
 dbSNP
17g.31229242C>ACA398984534NF1c.2672C>A (p.Ser891Tyr)
c.2657C>A (p.Ser886Tyr)
c.2627C>A (p.Ser876Tyr)
c.1625C>A (p.Ser542Tyr)
n.794C>A
c.2402C>A
c.2729C>A (p.Ser910Tyr)
c.2618C>A (p.Ser873Tyr)
c.2654C>A (p.Ser885Tyr)
 dbSNP
17g.31229242C>GCA398984541NF1c.2672C>G (p.Ser891Cys)
c.2657C>G (p.Ser886Cys)
c.2627C>G (p.Ser876Cys)
c.1625C>G (p.Ser542Cys)
n.794C>G
c.2402C>G
c.2729C>G (p.Ser910Cys)
c.2618C>G (p.Ser873Cys)
c.2654C>G (p.Ser885Cys)
 dbSNP
17g.31229242C>TCA398984532NF1c.2672C>T (p.Ser891Phe)
c.2657C>T (p.Ser886Phe)
c.2627C>T (p.Ser876Phe)
c.1625C>T (p.Ser542Phe)
n.794C>T
c.2402C>T
c.2729C>T (p.Ser910Phe)
c.2618C>T (p.Ser873Phe)
c.2654C>T (p.Ser885Phe)
 dbSNP
17g.31229243T>ACA499444487NF1c.2673T>A (p.Ser891=)
c.2658T>A (p.Ser886=)
c.2628T>A (p.Ser876=)
c.1626T>A (p.Ser542=)
n.795T>A
c.2403T>A
c.2730T>A (p.Ser910=)
c.2619T>A (p.Ser873=)
c.2655T>A (p.Ser885=)
17g.31229243T>CCA499444489NF1c.2673T>C (p.Ser891=)
c.2658T>C (p.Ser886=)
c.2628T>C (p.Ser876=)
c.1626T>C (p.Ser542=)
n.795T>C
c.2403T>C
c.2730T>C (p.Ser910=)
c.2619T>C (p.Ser873=)
c.2655T>C (p.Ser885=)
17g.31229243T>GCA499444488NF1c.2673T>G (p.Ser891=)
c.2658T>G (p.Ser886=)
c.2628T>G (p.Ser876=)
c.1626T>G (p.Ser542=)
n.795T>G
c.2403T>G
c.2730T>G (p.Ser910=)
c.2619T>G (p.Ser873=)
c.2655T>G (p.Ser885=)
17g.31229244_31229245delCA2695225381NF1c.2674_2675del (p.Met892AspfsTer28)
c.2659_2660del (p.Met887AspfsTer28)
c.2629_2630del (p.Met877AspfsTer28)
c.1627_1628del (p.Met543AspfsTer28)
n.796_797del
c.2404_2405del
c.2731_2732del (p.Met911AspfsTer28)
c.2620_2621del (p.Met874AspfsTer28)
c.2656_2657del (p.Met886AspfsTer28)
17g.31229244A=CA2255565344NF1c.2674A= (p.Met892=)
c.2659A= (p.Met887=)
c.2629A= (p.Met877=)
c.1627A= (p.Met543=)
n.796A=
c.2404A=
c.2731A= (p.Met911=)
c.2620A= (p.Met874=)
c.2656A= (p.Met886=)
17g.31229244A>CCA398984546NF1c.2674A>C (p.Met892Leu)
c.2659A>C (p.Met887Leu)
c.2629A>C (p.Met877Leu)
c.1627A>C (p.Met543Leu)
n.796A>C
c.2404A>C
c.2731A>C (p.Met911Leu)
c.2620A>C (p.Met874Leu)
c.2656A>C (p.Met886Leu)
 dbSNP
17g.31229244A>GCA8486009NF1c.2674A>G (p.Met892Val)
c.2659A>G (p.Met887Val)
c.2629A>G (p.Met877Val)
c.1627A>G (p.Met543Val)
n.796A>G
c.2404A>G
c.2731A>G (p.Met911Val)
c.2620A>G (p.Met874Val)
c.2656A>G (p.Met886Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31229244A>TCA398984544NF1c.2674A>T (p.Met892Leu)
c.2659A>T (p.Met887Leu)
c.2629A>T (p.Met877Leu)
c.1627A>T (p.Met543Leu)
n.796A>T
c.2404A>T
c.2731A>T (p.Met911Leu)
c.2620A>T (p.Met874Leu)
c.2656A>T (p.Met886Leu)
 dbSNP gnomAD v4
17g.31229245T>ACA398984549NF1c.2675T>A (p.Met892Lys)
c.2660T>A (p.Met887Lys)
c.2630T>A (p.Met877Lys)
c.1628T>A (p.Met543Lys)
n.797T>A
c.2405T>A
c.2732T>A (p.Met911Lys)
c.2621T>A (p.Met874Lys)
c.2657T>A (p.Met886Lys)
 ClinVar dbSNP
17g.31229245T>CCA398984561NF1c.2675T>C (p.Met892Thr)
c.2660T>C (p.Met887Thr)
c.2630T>C (p.Met877Thr)
c.1628T>C (p.Met543Thr)
n.797T>C
c.2405T>C
c.2732T>C (p.Met911Thr)
c.2621T>C (p.Met874Thr)
c.2657T>C (p.Met886Thr)
 ClinVar dbSNP gnomAD v4
17g.31229245T>GCA398984564NF1c.2675T>G (p.Met892Arg)
c.2660T>G (p.Met887Arg)
c.2630T>G (p.Met877Arg)
c.1628T>G (p.Met543Arg)
n.797T>G
c.2405T>G
c.2732T>G (p.Met911Arg)
c.2621T>G (p.Met874Arg)
c.2657T>G (p.Met886Arg)
 dbSNP
17g.31229245dupCA2695225382NF1c.2675dup (p.Met892IlefsTer29)
c.2660dup (p.Met887IlefsTer29)
c.2630dup (p.Met877IlefsTer29)
c.1628dup (p.Met543IlefsTer29)
n.797dup
c.2405dup
c.2732dup (p.Met911IlefsTer29)
c.2621dup (p.Met874IlefsTer29)
c.2657dup (p.Met886IlefsTer29)
17g.31229246G>ACA398984567NF1c.2676G>A (p.Met892Ile)
c.2661G>A (p.Met887Ile)
c.2631G>A (p.Met877Ile)
c.1629G>A (p.Met543Ile)
n.798G>A
c.2406G>A
c.2733G>A (p.Met911Ile)
c.2622G>A (p.Met874Ile)
c.2658G>A (p.Met886Ile)
 dbSNP
17g.31229246G>CCA398984569NF1c.2676G>C (p.Met892Ile)
c.2661G>C (p.Met887Ile)
c.2631G>C (p.Met877Ile)
c.1629G>C (p.Met543Ile)
n.798G>C
c.2406G>C
c.2733G>C (p.Met911Ile)
c.2622G>C (p.Met874Ile)
c.2658G>C (p.Met886Ile)
 dbSNP
17g.31229246G=CA2255565348NF1c.2676G= (p.Met892=)
c.2661G= (p.Met887=)
c.2631G= (p.Met877=)
c.1629G= (p.Met543=)
n.798G=
c.2406G=
c.2733G= (p.Met911=)
c.2622G= (p.Met874=)
c.2658G= (p.Met886=)
17g.31229246G>TCA398984570NF1c.2676G>T (p.Met892Ile)
c.2661G>T (p.Met887Ile)
c.2631G>T (p.Met877Ile)
c.1629G>T (p.Met543Ile)
n.798G>T
c.2406G>T
c.2733G>T (p.Met911Ile)
c.2622G>T (p.Met874Ile)
c.2658G>T (p.Met886Ile)
 ClinVar dbSNP
17g.31229247A>CCA398984572NF1c.2677A>C (p.Ile893Leu)
c.2662A>C (p.Ile888Leu)
c.2632A>C (p.Ile878Leu)
c.1630A>C (p.Ile544Leu)
n.799A>C
c.2407A>C
c.2734A>C (p.Ile912Leu)
c.2623A>C (p.Ile875Leu)
c.2659A>C (p.Ile887Leu)
 dbSNP
17g.31229247A>GCA398984574NF1c.2677A>G (p.Ile893Val)
c.2662A>G (p.Ile888Val)
c.2632A>G (p.Ile878Val)
c.1630A>G (p.Ile544Val)
n.799A>G
c.2407A>G
c.2734A>G (p.Ile912Val)
c.2623A>G (p.Ile875Val)
c.2659A>G (p.Ile887Val)
 dbSNP
17g.31229247A>TCA398984575NF1c.2677A>T (p.Ile893Phe)
c.2662A>T (p.Ile888Phe)
c.2632A>T (p.Ile878Phe)
c.1630A>T (p.Ile544Phe)
n.799A>T
c.2407A>T
c.2734A>T (p.Ile912Phe)
c.2623A>T (p.Ile875Phe)
c.2659A>T (p.Ile887Phe)
 dbSNP
17g.31229248T>ACA398984577NF1c.2678T>A (p.Ile893Asn)
c.2663T>A (p.Ile888Asn)
c.2633T>A (p.Ile878Asn)
c.1631T>A (p.Ile544Asn)
n.800T>A
c.2408T>A
c.2735T>A (p.Ile912Asn)
c.2624T>A (p.Ile875Asn)
c.2660T>A (p.Ile887Asn)
17g.31229248T>CCA8486010NF1c.2678T>C (p.Ile893Thr)
c.2663T>C (p.Ile888Thr)
c.2633T>C (p.Ile878Thr)
c.1631T>C (p.Ile544Thr)
n.800T>C
c.2408T>C
c.2735T>C (p.Ile912Thr)
c.2624T>C (p.Ile875Thr)
c.2660T>C (p.Ile887Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.31229248T>GCA398984583NF1c.2678T>G (p.Ile893Ser)
c.2663T>G (p.Ile888Ser)
c.2633T>G (p.Ile878Ser)
c.1631T>G (p.Ile544Ser)
n.800T>G
c.2408T>G
c.2735T>G (p.Ile912Ser)
c.2624T>G (p.Ile875Ser)
c.2660T>G (p.Ile887Ser)
 ClinVar
17g.31229248T=CA2255565354NF1c.2678T= (p.Ile893=)
c.2663T= (p.Ile888=)
c.2633T= (p.Ile878=)
c.1631T= (p.Ile544=)
n.800T=
c.2408T=
c.2735T= (p.Ile912=)
c.2624T= (p.Ile875=)
c.2660T= (p.Ile887=)
17g.31229249T>ACA499444502NF1c.2679T>A (p.Ile893=)
c.2664T>A (p.Ile888=)
c.2634T>A (p.Ile878=)
c.1632T>A (p.Ile544=)
n.801T>A
c.2409T>A
c.2736T>A (p.Ile912=)
c.2625T>A (p.Ile875=)
c.2661T>A (p.Ile887=)
 ClinVar dbSNP
17g.31229249T>CCA499444503NF1c.2679T>C (p.Ile893=)
c.2664T>C (p.Ile888=)
c.2634T>C (p.Ile878=)
c.1632T>C (p.Ile544=)
n.801T>C
c.2409T>C
c.2736T>C (p.Ile912=)
c.2625T>C (p.Ile875=)
c.2661T>C (p.Ile887=)
 dbSNP
17g.31229249T>GCA8486011NF1c.2679T>G (p.Ile893Met)
c.2664T>G (p.Ile888Met)
c.2634T>G (p.Ile878Met)
c.1632T>G (p.Ile544Met)
n.801T>G
c.2409T>G
c.2736T>G (p.Ile912Met)
c.2625T>G (p.Ile875Met)
c.2661T>G (p.Ile887Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31229249T=CA2255565359NF1c.2679T= (p.Ile893=)
c.2664T= (p.Ile888=)
c.2634T= (p.Ile878=)
c.1632T= (p.Ile544=)
n.801T=
c.2409T=
c.2736T= (p.Ile912=)
c.2625T= (p.Ile875=)
c.2661T= (p.Ile887=)
17g.31229250T>ACA398984588NF1c.2680T>A (p.Ser894Thr)
c.2665T>A (p.Ser889Thr)
c.2635T>A (p.Ser879Thr)
c.1633T>A (p.Ser545Thr)
n.802T>A
c.2410T>A
c.2737T>A (p.Ser913Thr)
c.2626T>A (p.Ser876Thr)
c.2662T>A (p.Ser888Thr)
 dbSNP
17g.31229250T>CCA398984595NF1c.2680T>C (p.Ser894Pro)
c.2665T>C (p.Ser889Pro)
c.2635T>C (p.Ser879Pro)
c.1633T>C (p.Ser545Pro)
n.802T>C
c.2410T>C
c.2737T>C (p.Ser913Pro)
c.2626T>C (p.Ser876Pro)
c.2662T>C (p.Ser888Pro)
 dbSNP
17g.31229250T>GCA398984597NF1c.2680T>G (p.Ser894Ala)
c.2665T>G (p.Ser889Ala)
c.2635T>G (p.Ser879Ala)
c.1633T>G (p.Ser545Ala)
n.802T>G
c.2410T>G
c.2737T>G (p.Ser913Ala)
c.2626T>G (p.Ser876Ala)
c.2662T>G (p.Ser888Ala)
 ClinVar
17g.31229251C>ACA398984598NF1c.2681C>A (p.Ser894Ter)
c.2666C>A (p.Ser889Ter)
c.2636C>A (p.Ser879Ter)
c.1634C>A (p.Ser545Ter)
n.803C>A
c.2411C>A
c.2738C>A (p.Ser913Ter)
c.2627C>A (p.Ser876Ter)
c.2663C>A (p.Ser888Ter)
 dbSNP gnomAD v4
17g.31229251C>GCA398984602NF1c.2681C>G (p.Ser894Ter)
c.2666C>G (p.Ser889Ter)
c.2636C>G (p.Ser879Ter)
c.1634C>G (p.Ser545Ter)
n.803C>G
c.2411C>G
c.2738C>G (p.Ser913Ter)
c.2627C>G (p.Ser876Ter)
c.2663C>G (p.Ser888Ter)
 ClinVar dbSNP
17g.31229251C>TCA398984604NF1c.2681C>T (p.Ser894Leu)
c.2666C>T (p.Ser889Leu)
c.2636C>T (p.Ser879Leu)
c.1634C>T (p.Ser545Leu)
n.803C>T
c.2411C>T
c.2738C>T (p.Ser913Leu)
c.2627C>T (p.Ser876Leu)
c.2663C>T (p.Ser888Leu)
 ClinVar dbSNP
17g.31229252delCA2695225383NF1c.2682del (p.Val895Ter)
c.2667del (p.Val890Ter)
c.2637del (p.Val880Ter)
c.1635del (p.Val546Ter)
n.804del
c.2412del
c.2739del (p.Val914Ter)
c.2628del (p.Val877Ter)
c.2664del (p.Val889Ter)
17g.31229252A=CA2255565365NF1c.2682A= (p.Ser894=)
c.2667A= (p.Ser889=)
c.2637A= (p.Ser879=)
c.1635A= (p.Ser545=)
n.804A=
c.2412A=
c.2739A= (p.Ser913=)
c.2628A= (p.Ser876=)
c.2664A= (p.Ser888=)
17g.31229252A>CCA499444508NF1c.2682A>C (p.Ser894=)
c.2667A>C (p.Ser889=)
c.2637A>C (p.Ser879=)
c.1635A>C (p.Ser545=)
n.804A>C
c.2412A>C
c.2739A>C (p.Ser913=)
c.2628A>C (p.Ser876=)
c.2664A>C (p.Ser888=)
 dbSNP
17g.31229252A>GCA499444510NF1c.2682A>G (p.Ser894=)
c.2667A>G (p.Ser889=)
c.2637A>G (p.Ser879=)
c.1635A>G (p.Ser545=)
n.804A>G
c.2412A>G
c.2739A>G (p.Ser913=)
c.2628A>G (p.Ser876=)
c.2664A>G (p.Ser888=)
 ClinVar dbSNP gnomAD v4
17g.31229252A>TCA499444512NF1c.2682A>T (p.Ser894=)
c.2667A>T (p.Ser889=)
c.2637A>T (p.Ser879=)
c.1635A>T (p.Ser545=)
n.804A>T
c.2412A>T
c.2739A>T (p.Ser913=)
c.2628A>T (p.Ser876=)
c.2664A>T (p.Ser888=)
 dbSNP
17g.31229253G>ACA398984605NF1c.2683G>A (p.Val895Met)
c.2668G>A (p.Val890Met)
c.2638G>A (p.Val880Met)
c.1636G>A (p.Val546Met)
n.805G>A
c.2413G>A
c.2740G>A (p.Val914Met)
c.2629G>A (p.Val877Met)
c.2665G>A (p.Val889Met)
 ClinVar dbSNP gnomAD v4
17g.31229253G>CCA398984608NF1c.2683G>C (p.Val895Leu)
c.2668G>C (p.Val890Leu)
c.2638G>C (p.Val880Leu)
c.1636G>C (p.Val546Leu)
n.805G>C
c.2413G>C
c.2740G>C (p.Val914Leu)
c.2629G>C (p.Val877Leu)
c.2665G>C (p.Val889Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.31229253G=CA2255565368NF1c.2683G= (p.Val895=)
c.2668G= (p.Val890=)
c.2638G= (p.Val880=)
c.1636G= (p.Val546=)
n.805G=
c.2413G=
c.2740G= (p.Val914=)
c.2629G= (p.Val877=)
c.2665G= (p.Val889=)
17g.31229253G>TCA398984611NF1c.2683G>T (p.Val895Leu)
c.2668G>T (p.Val890Leu)
c.2638G>T (p.Val880Leu)
c.1636G>T (p.Val546Leu)
n.805G>T
c.2413G>T
c.2740G>T (p.Val914Leu)
c.2629G>T (p.Val877Leu)
c.2665G>T (p.Val889Leu)
 dbSNP
17g.31229254_31229255dupCA2573153307NF1c.2684_2685dup (p.Met896Ter)
c.2669_2670dup (p.Met891Ter)
c.2639_2640dup (p.Met881Ter)
c.1637_1638dup (p.Met547Ter)
n.806_807dup
c.2414_2415dup
c.2741_2742dup (p.Met915Ter)
c.2630_2631dup (p.Met878Ter)
c.2666_2667dup (p.Met890Ter)
 ClinVar dbSNP
17g.31229253_31229265delCA2580093332NF1c.2683_2695del (p.Val895ArgfsTer18)
c.2668_2680del (p.Val890ArgfsTer18)
c.2638_2650del (p.Val880ArgfsTer18)
c.1636_1648del (p.Val546ArgfsTer18)
n.805_817del
c.2413_2425del
c.2740_2752del (p.Val914ArgfsTer18)
c.2629_2641del (p.Val877ArgfsTer18)
c.2665_2677del (p.Val889ArgfsTer18)
 ClinVar
17g.31229254T>ACA398984614NF1c.2684T>A (p.Val895Glu)
c.2669T>A (p.Val890Glu)
c.2639T>A (p.Val880Glu)
c.1637T>A (p.Val546Glu)
n.806T>A
c.2414T>A
c.2741T>A (p.Val914Glu)
c.2630T>A (p.Val877Glu)
c.2666T>A (p.Val889Glu)
17g.31229254T>CCA398984615NF1c.2684T>C (p.Val895Ala)
c.2669T>C (p.Val890Ala)
c.2639T>C (p.Val880Ala)
c.1637T>C (p.Val546Ala)
n.806T>C
c.2414T>C
c.2741T>C (p.Val914Ala)
c.2630T>C (p.Val877Ala)
c.2666T>C (p.Val889Ala)
17g.31229254T>GCA398984618NF1c.2684T>G (p.Val895Gly)
c.2669T>G (p.Val890Gly)
c.2639T>G (p.Val880Gly)
c.1637T>G (p.Val546Gly)
n.806T>G
c.2414T>G
c.2741T>G (p.Val914Gly)
c.2630T>G (p.Val877Gly)
c.2666T>G (p.Val889Gly)
17g.31229255G>ACA192879NF1c.2685G>A (p.Val895=)
c.2670G>A (p.Val890=)
c.2640G>A (p.Val880=)
c.1638G>A (p.Val546=)
n.807G>A
c.2415G>A
c.2742G>A (p.Val914=)
c.2631G>A (p.Val877=)
c.2667G>A (p.Val889=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31229255G>CCA499444517NF1c.2685G>C (p.Val895=)
c.2670G>C (p.Val890=)
c.2640G>C (p.Val880=)
c.1638G>C (p.Val546=)
n.807G>C
c.2415G>C
c.2742G>C (p.Val914=)
c.2631G>C (p.Val877=)
c.2667G>C (p.Val889=)
 dbSNP
17g.31229255G=CA2255565375NF1c.2685G= (p.Val895=)
c.2670G= (p.Val890=)
c.2640G= (p.Val880=)
c.1638G= (p.Val546=)
n.807G=
c.2415G=
c.2742G= (p.Val914=)
c.2631G= (p.Val877=)
c.2667G= (p.Val889=)
17g.31229255G>TCA499444518NF1c.2685G>T (p.Val895=)
c.2670G>T (p.Val890=)
c.2640G>T (p.Val880=)
c.1638G>T (p.Val546=)
n.807G>T
c.2415G>T
c.2742G>T (p.Val914=)
c.2631G>T (p.Val877=)
c.2667G>T (p.Val889=)
 dbSNP
17g.31229256A=CA2255565378NF1c.2686A= (p.Met896=)
c.2671A= (p.Met891=)
c.2641A= (p.Met881=)
c.1639A= (p.Met547=)
n.808A=
c.2416A=
c.2743A= (p.Met915=)
c.2632A= (p.Met878=)
c.2668A= (p.Met890=)
17g.31229256A>CCA398984632NF1c.2686A>C (p.Met896Leu)
c.2671A>C (p.Met891Leu)
c.2641A>C (p.Met881Leu)
c.1639A>C (p.Met547Leu)
n.808A>C
c.2416A>C
c.2743A>C (p.Met915Leu)
c.2632A>C (p.Met878Leu)
c.2668A>C (p.Met890Leu)
17g.31229256A>GCA16615459NF1c.2686A>G (p.Met896Val)
c.2671A>G (p.Met891Val)
c.2641A>G (p.Met881Val)
c.1639A>G (p.Met547Val)
n.808A>G
c.2416A>G
c.2743A>G (p.Met915Val)
c.2632A>G (p.Met878Val)
c.2668A>G (p.Met890Val)
 ClinVar dbSNP
17g.31229256A>TCA398984627NF1c.2686A>T (p.Met896Leu)
c.2671A>T (p.Met891Leu)
c.2641A>T (p.Met881Leu)
c.1639A>T (p.Met547Leu)
n.808A>T
c.2416A>T
c.2743A>T (p.Met915Leu)
c.2632A>T (p.Met878Leu)
c.2668A>T (p.Met890Leu)
 dbSNP gnomAD v4
17g.31229257T>ACA398984639NF1c.2687T>A (p.Met896Lys)
c.2672T>A (p.Met891Lys)
c.2642T>A (p.Met881Lys)
c.1640T>A (p.Met547Lys)
n.809T>A
c.2417T>A
c.2744T>A (p.Met915Lys)
c.2633T>A (p.Met878Lys)
c.2669T>A (p.Met890Lys)
 dbSNP
17g.31229257T>CCA8486012NF1c.2687T>C (p.Met896Thr)
c.2672T>C (p.Met891Thr)
c.2642T>C (p.Met881Thr)
c.1640T>C (p.Met547Thr)
n.809T>C
c.2417T>C
c.2744T>C (p.Met915Thr)
c.2633T>C (p.Met878Thr)
c.2669T>C (p.Met890Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31229257T>GCA398984638NF1c.2687T>G (p.Met896Arg)
c.2672T>G (p.Met891Arg)
c.2642T>G (p.Met881Arg)
c.1640T>G (p.Met547Arg)
n.809T>G
c.2417T>G
c.2744T>G (p.Met915Arg)
c.2633T>G (p.Met878Arg)
c.2669T>G (p.Met890Arg)
 dbSNP
17g.31229257T=CA2255565382NF1c.2687T= (p.Met896=)
c.2672T= (p.Met891=)
c.2642T= (p.Met881=)
c.1640T= (p.Met547=)
n.809T=
c.2417T=
c.2744T= (p.Met915=)
c.2633T= (p.Met878=)
c.2669T= (p.Met890=)
17g.31229258_31229262delCA2740097806NF1c.2688_2692del (p.Met896IlefsTer23)
c.2673_2677del (p.Met891IlefsTer23)
c.2643_2647del (p.Met881IlefsTer23)
c.1641_1645del (p.Met547IlefsTer23)
n.810_814del
c.2418_2422del
c.2745_2749del (p.Met915IlefsTer23)
c.2634_2638del (p.Met878IlefsTer23)
c.2670_2674del (p.Met890IlefsTer23)
 ClinVar
17g.31229258G>ACA8486013NF1c.2688G>A (p.Met896Ile)
c.2673G>A (p.Met891Ile)
c.2643G>A (p.Met881Ile)
c.1641G>A (p.Met547Ile)
n.810G>A
c.2418G>A
c.2745G>A (p.Met915Ile)
c.2634G>A (p.Met878Ile)
c.2670G>A (p.Met890Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31229258G>CCA398984645NF1c.2688G>C (p.Met896Ile)
c.2673G>C (p.Met891Ile)
c.2643G>C (p.Met881Ile)
c.1641G>C (p.Met547Ile)
n.810G>C
c.2418G>C
c.2745G>C (p.Met915Ile)
c.2634G>C (p.Met878Ile)
c.2670G>C (p.Met890Ile)
 dbSNP
17g.31229258G=CA2255565387NF1c.2688G= (p.Met896=)
c.2673G= (p.Met891=)
c.2643G= (p.Met881=)
c.1641G= (p.Met547=)
n.810G=
c.2418G=
c.2745G= (p.Met915=)
c.2634G= (p.Met878=)
c.2670G= (p.Met890=)
17g.31229258G>TCA398984649NF1c.2688G>T (p.Met896Ile)
c.2673G>T (p.Met891Ile)
c.2643G>T (p.Met881Ile)
c.1641G>T (p.Met547Ile)
n.810G>T
c.2418G>T
c.2745G>T (p.Met915Ile)
c.2634G>T (p.Met878Ile)
c.2670G>T (p.Met890Ile)
 dbSNP
17g.31229259T>ACA398984659NF1c.2689T>A (p.Ser897Thr)
c.2674T>A (p.Ser892Thr)
c.2644T>A (p.Ser882Thr)
c.1642T>A (p.Ser548Thr)
n.811T>A
c.2419T>A
c.2746T>A (p.Ser916Thr)
c.2635T>A (p.Ser879Thr)
c.2671T>A (p.Ser891Thr)
17g.31229259T>CCA398984655NF1c.2689T>C (p.Ser897Pro)
c.2674T>C (p.Ser892Pro)
c.2644T>C (p.Ser882Pro)
c.1642T>C (p.Ser548Pro)
n.811T>C
c.2419T>C
c.2746T>C (p.Ser916Pro)
c.2635T>C (p.Ser879Pro)
c.2671T>C (p.Ser891Pro)
17g.31229259T>GCA398984652NF1c.2689T>G (p.Ser897Ala)
c.2674T>G (p.Ser892Ala)
c.2644T>G (p.Ser882Ala)
c.1642T>G (p.Ser548Ala)
n.811T>G
c.2419T>G
c.2746T>G (p.Ser916Ala)
c.2635T>G (p.Ser879Ala)
c.2671T>G (p.Ser891Ala)
 dbSNP
17g.31229260C>ACA398984671NF1c.2690C>A (p.Ser897Tyr)
c.2675C>A (p.Ser892Tyr)
c.2645C>A (p.Ser882Tyr)
c.1643C>A (p.Ser548Tyr)
n.812C>A
c.2420C>A
c.2747C>A (p.Ser916Tyr)
c.2636C>A (p.Ser879Tyr)
c.2672C>A (p.Ser891Tyr)
 dbSNP
17g.31229260C>GCA398984675NF1c.2690C>G (p.Ser897Cys)
c.2675C>G (p.Ser892Cys)
c.2645C>G (p.Ser882Cys)
c.1643C>G (p.Ser548Cys)
n.812C>G
c.2420C>G
c.2747C>G (p.Ser916Cys)
c.2636C>G (p.Ser879Cys)
c.2672C>G (p.Ser891Cys)
 dbSNP
17g.31229260C>TCA398984685NF1c.2690C>T (p.Ser897Phe)
c.2675C>T (p.Ser892Phe)
c.2645C>T (p.Ser882Phe)
c.1643C>T (p.Ser548Phe)
n.812C>T
c.2420C>T
c.2747C>T (p.Ser916Phe)
c.2636C>T (p.Ser879Phe)
c.2672C>T (p.Ser891Phe)
 dbSNP
17g.31229261T>ACA499444523NF1c.2691T>A (p.Ser897=)
c.2676T>A (p.Ser892=)
c.2646T>A (p.Ser882=)
c.1644T>A (p.Ser548=)
n.813T>A
c.2421T>A
c.2748T>A (p.Ser916=)
c.2637T>A (p.Ser879=)
c.2673T>A (p.Ser891=)
 dbSNP
17g.31229261T>CCA499444524NF1c.2691T>C (p.Ser897=)
c.2676T>C (p.Ser892=)
c.2646T>C (p.Ser882=)
c.1644T>C (p.Ser548=)
n.813T>C
c.2421T>C
c.2748T>C (p.Ser916=)
c.2637T>C (p.Ser879=)
c.2673T>C (p.Ser891=)
 dbSNP
17g.31229261T>GCA499444525NF1c.2691T>G (p.Ser897=)
c.2676T>G (p.Ser892=)
c.2646T>G (p.Ser882=)
c.1644T>G (p.Ser548=)
n.813T>G
c.2421T>G
c.2748T>G (p.Ser916=)
c.2637T>G (p.Ser879=)
c.2673T>G (p.Ser891=)
17g.31229262T>ACA398984687NF1c.2692T>A (p.Ser898Thr)
c.2677T>A (p.Ser893Thr)
c.2647T>A (p.Ser883Thr)
c.1645T>A (p.Ser549Thr)
n.814T>A
c.2422T>A
c.2749T>A (p.Ser917Thr)
c.2638T>A (p.Ser880Thr)
c.2674T>A (p.Ser892Thr)
 dbSNP
17g.31229262T>CCA398984690NF1c.2692T>C (p.Ser898Pro)
c.2677T>C (p.Ser893Pro)
c.2647T>C (p.Ser883Pro)
c.1645T>C (p.Ser549Pro)
n.814T>C
c.2422T>C
c.2749T>C (p.Ser917Pro)
c.2638T>C (p.Ser880Pro)
c.2674T>C (p.Ser892Pro)
 ClinVar dbSNP
17g.31229262T>GCA398984693NF1c.2692T>G (p.Ser898Ala)
c.2677T>G (p.Ser893Ala)
c.2647T>G (p.Ser883Ala)
c.1645T>G (p.Ser549Ala)
n.814T>G
c.2422T>G
c.2749T>G (p.Ser917Ala)
c.2638T>G (p.Ser880Ala)
c.2674T>G (p.Ser892Ala)
17g.31229263C>ACA398984698NF1c.2693C>A (p.Ser898Ter)
c.2678C>A (p.Ser893Ter)
c.2648C>A (p.Ser883Ter)
c.1646C>A (p.Ser549Ter)
n.815C>A
c.2423C>A
c.2750C>A (p.Ser917Ter)
c.2639C>A (p.Ser880Ter)
c.2675C>A (p.Ser892Ter)
 ClinVar dbSNP
17g.31229263C>GCA398984704NF1c.2693C>G (p.Ser898Ter)
c.2678C>G (p.Ser893Ter)
c.2648C>G (p.Ser883Ter)
c.1646C>G (p.Ser549Ter)
n.815C>G
c.2423C>G
c.2750C>G (p.Ser917Ter)
c.2639C>G (p.Ser880Ter)
c.2675C>G (p.Ser892Ter)
 ClinVar dbSNP
17g.31229263C>TCA398984701NF1c.2693C>T (p.Ser898Leu)
c.2678C>T (p.Ser893Leu)
c.2648C>T (p.Ser883Leu)
c.1646C>T (p.Ser549Leu)
n.815C>T
c.2423C>T
c.2750C>T (p.Ser917Leu)
c.2639C>T (p.Ser880Leu)
c.2675C>T (p.Ser892Leu)
 ClinVar dbSNP
17g.31229264A=CA2255565390NF1c.2694A= (p.Ser898=)
c.2679A= (p.Ser893=)
c.2649A= (p.Ser883=)
c.1647A= (p.Ser549=)
n.816A=
c.2424A=
c.2751A= (p.Ser917=)
c.2640A= (p.Ser880=)
c.2676A= (p.Ser892=)
17g.31229264A>CCA499444529NF1c.2694A>C (p.Ser898=)
c.2679A>C (p.Ser893=)
c.2649A>C (p.Ser883=)
c.1647A>C (p.Ser549=)
n.816A>C
c.2424A>C
c.2751A>C (p.Ser917=)
c.2640A>C (p.Ser880=)
c.2676A>C (p.Ser892=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31229264A>GCA499444530NF1c.2694A>G (p.Ser898=)
c.2679A>G (p.Ser893=)
c.2649A>G (p.Ser883=)
c.1647A>G (p.Ser549=)
n.816A>G
c.2424A>G
c.2751A>G (p.Ser917=)
c.2640A>G (p.Ser880=)
c.2676A>G (p.Ser892=)
 ClinVar dbSNP
17g.31229264A>TCA499444528NF1c.2694A>T (p.Ser898=)
c.2679A>T (p.Ser893=)
c.2649A>T (p.Ser883=)
c.1647A>T (p.Ser549=)
n.816A>T
c.2424A>T
c.2751A>T (p.Ser917=)
c.2640A>T (p.Ser880=)
c.2676A>T (p.Ser892=)
 dbSNP
17g.31229265_31229272delCA2573153308NF1c.2695_2702del (p.Glu899ArgfsTer19)
c.2680_2687del (p.Glu894ArgfsTer19)
c.2650_2657del (p.Glu884ArgfsTer19)
c.1648_1655del (p.Glu550ArgfsTer19)
n.817_824del
c.2425_2432del
c.2752_2759del (p.Glu918ArgfsTer19)
c.2641_2648del (p.Glu881ArgfsTer19)
c.2677_2684del (p.Glu893ArgfsTer19)
 ClinVar dbSNP
17g.31229265G>ACA398984707NF1c.2695G>A (p.Glu899Lys)
c.2680G>A (p.Glu894Lys)
c.2650G>A (p.Glu884Lys)
c.1648G>A (p.Glu550Lys)
n.817G>A
c.2425G>A
c.2752G>A (p.Glu918Lys)
c.2641G>A (p.Glu881Lys)
c.2677G>A (p.Glu893Lys)
 dbSNP
17g.31229265G>CCA398984711NF1c.2695G>C (p.Glu899Gln)
c.2680G>C (p.Glu894Gln)
c.2650G>C (p.Glu884Gln)
c.1648G>C (p.Glu550Gln)
n.817G>C
c.2425G>C
c.2752G>C (p.Glu918Gln)
c.2641G>C (p.Glu881Gln)
c.2677G>C (p.Glu893Gln)
 dbSNP
17g.31229265G>TCA398984715NF1c.2695G>T (p.Glu899Ter)
c.2680G>T (p.Glu894Ter)
c.2650G>T (p.Glu884Ter)
c.1648G>T (p.Glu550Ter)
n.817G>T
c.2425G>T
c.2752G>T (p.Glu918Ter)
c.2641G>T (p.Glu881Ter)
c.2677G>T (p.Glu893Ter)
 ClinVar dbSNP

Number of alleles fetched