WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31343020_31343047delinsAGTATTTATGGCAATCCGGAATCCTCTG | CA2255605060 | NF1 | c.7056_7083delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2352=) c.1638_1665delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu546=) c.1230_1257delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu410=) n.3719_3746delinsAGTATTTATGGCAATCCGGAATCCTCTG c.13_40delinsAGTATTTATGGCAATCCGGAATCCTCTG c.7104_7131delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2368=) c.7074_7101delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2358=) c.7011_7038delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2337=) c.6009_6036delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2003=) c.457_484delinsAGTATTTATGGCAATCCGGAATCCTCTG c.7210_7237delinsAGTATTTATGGCAATCCGGAATCCTCTG (n.7210_7237delinsAGTATTTATGGCAATCCGGAATCCTCTG) c.217_244delinsAGTATTTATGGCAATCCGGAATCCTCTG n.316_343delinsAGTATTTATGGCAATCCGGAATCCTCTG n.488_515delinsAGTATTTATGGCAATCCGGAATCCTCTG c.7065_7092delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2355=) c.7041_7068delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2347=) c.7101_7128delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2367=) | |
| 17 | g.31343022_31343048del | CA658798777 | NF1 | c.7058_7084del (p.Val2353_Leu2361del) c.1640_1666del (p.Val547_Leu555del) c.1232_1258del (p.Val411_Leu419del) n.3721_3747del c.15_41del c.7106_7132del (p.Val2369_Leu2377del) c.7076_7102del (p.Val2359_Leu2367del) c.7013_7039del (p.Val2338_Leu2346del) c.6011_6037del (p.Val2004_Leu2012del) c.459_485del c.7212_7238del (n.7212_7238del) c.219_245del n.318_344del n.490_516del c.7067_7093del (p.Val2356_Leu2364del) c.7043_7069del (p.Val2348_Leu2356del) c.7103_7129del (p.Val2368_Leu2376del) | ClinVar dbSNP |
| 17 | g.31343038del | CA2573153903 | NF1 | c.7074del (p.Asn2359IlefsTer?) c.1656del (p.Asn553IlefsTer?) c.1248del (p.Asn417IlefsTer?) n.3737del c.31del c.7122del (p.Asn2375IlefsTer?) c.7092del (p.Asn2365IlefsTer?) c.7029del (p.Asn2344IlefsTer?) c.6027del (p.Asn2010IlefsTer?) c.475del c.7228del (n.7228del) c.235del n.334del n.506del c.7083del (p.Asn2362IlefsTer?) c.7059del (p.Asn2354IlefsTer?) c.7119del (p.Asn2374IlefsTer?) | ClinVar dbSNP |
| 17 | g.31343038G>A | CA8487497 | NF1 | c.7074G>A (p.Arg2358=) c.1656G>A (p.Arg552=) c.1248G>A (p.Arg416=) n.3737G>A c.31G>A c.7122G>A (p.Arg2374=) c.7092G>A (p.Arg2364=) c.7029G>A (p.Arg2343=) c.6027G>A (p.Arg2009=) c.475G>A c.7228G>A (n.7228G>A) c.235G>A n.334G>A n.506G>A c.7083G>A (p.Arg2361=) c.7059G>A (p.Arg2353=) c.7119G>A (p.Arg2373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.31343038G>C | CA499236817 | NF1 | c.7074G>C (p.Arg2358=) c.1656G>C (p.Arg552=) c.1248G>C (p.Arg416=) n.3737G>C c.31G>C c.7122G>C (p.Arg2374=) c.7092G>C (p.Arg2364=) c.7029G>C (p.Arg2343=) c.6027G>C (p.Arg2009=) c.475G>C c.7228G>C (n.7228G>C) c.235G>C n.334G>C n.506G>C c.7083G>C (p.Arg2361=) c.7059G>C (p.Arg2353=) c.7119G>C (p.Arg2373=) | dbSNP |
| 17 | g.31343038G= | CA2255605073 | NF1 | c.7074G= (p.Arg2358=) c.1656G= (p.Arg552=) c.1248G= (p.Arg416=) n.3737G= c.31G= c.7122G= (p.Arg2374=) c.7092G= (p.Arg2364=) c.7029G= (p.Arg2343=) c.6027G= (p.Arg2009=) c.475G= c.7228G= (n.7228G=) c.235G= n.334G= n.506G= c.7083G= (p.Arg2361=) c.7059G= (p.Arg2353=) c.7119G= (p.Arg2373=) | |
| 17 | g.31343038G>T | CA499236818 | NF1 | c.7074G>T (p.Arg2358=) c.1656G>T (p.Arg552=) c.1248G>T (p.Arg416=) n.3737G>T c.31G>T c.7122G>T (p.Arg2374=) c.7092G>T (p.Arg2364=) c.7029G>T (p.Arg2343=) c.6027G>T (p.Arg2009=) c.475G>T c.7228G>T (n.7228G>T) c.235G>T n.334G>T n.506G>T c.7083G>T (p.Arg2361=) c.7059G>T (p.Arg2353=) c.7119G>T (p.Arg2373=) | |
| 17 | g.31343039A>C | CA399015567 | NF1 | c.7075A>C (p.Asn2359His) c.1657A>C (p.Asn553His) c.1249A>C (p.Asn417His) n.3738A>C c.32A>C c.7123A>C (p.Asn2375His) c.7093A>C (p.Asn2365His) c.7030A>C (p.Asn2344His) c.6028A>C (p.Asn2010His) c.476A>C c.7229A>C (n.7229A>C) c.236A>C n.335A>C n.507A>C c.7084A>C (p.Asn2362His) c.7060A>C (p.Asn2354His) c.7120A>C (p.Asn2374His) | |
| 17 | g.31343039A>G | CA399015566 | NF1 | c.7075A>G (p.Asn2359Asp) c.1657A>G (p.Asn553Asp) c.1249A>G (p.Asn417Asp) n.3738A>G c.32A>G c.7123A>G (p.Asn2375Asp) c.7093A>G (p.Asn2365Asp) c.7030A>G (p.Asn2344Asp) c.6028A>G (p.Asn2010Asp) c.476A>G c.7229A>G (n.7229A>G) c.236A>G n.335A>G n.507A>G c.7084A>G (p.Asn2362Asp) c.7060A>G (p.Asn2354Asp) c.7120A>G (p.Asn2374Asp) | |
| 17 | g.31343039A>T | CA399015565 | NF1 | c.7075A>T (p.Asn2359Tyr) c.1657A>T (p.Asn553Tyr) c.1249A>T (p.Asn417Tyr) n.3738A>T c.32A>T c.7123A>T (p.Asn2375Tyr) c.7093A>T (p.Asn2365Tyr) c.7030A>T (p.Asn2344Tyr) c.6028A>T (p.Asn2010Tyr) c.476A>T c.7229A>T (n.7229A>T) c.236A>T n.335A>T n.507A>T c.7084A>T (p.Asn2362Tyr) c.7060A>T (p.Asn2354Tyr) c.7120A>T (p.Asn2374Tyr) | |
| 17 | g.31343040del | CA2573153904 | NF1 | c.7076del (p.Asn2359IlefsTer?) c.1658del (p.Asn553IlefsTer?) c.1250del (p.Asn417IlefsTer?) n.3739del c.33del c.7124del (p.Asn2375IlefsTer?) c.7094del (p.Asn2365IlefsTer?) c.7031del (p.Asn2344IlefsTer?) c.6029del (p.Asn2010IlefsTer?) c.477del c.7230del (n.7230del) c.237del n.336del n.508del c.7085del (p.Asn2362IlefsTer?) c.7061del (p.Asn2354IlefsTer?) c.7121del (p.Asn2374IlefsTer?) | ClinVar dbSNP |
| 17 | g.31343040A>C | CA399015568 | NF1 | c.7076A>C (p.Asn2359Thr) c.1658A>C (p.Asn553Thr) c.1250A>C (p.Asn417Thr) n.3739A>C c.33A>C c.7124A>C (p.Asn2375Thr) c.7094A>C (p.Asn2365Thr) c.7031A>C (p.Asn2344Thr) c.6029A>C (p.Asn2010Thr) c.477A>C c.7230A>C (n.7230A>C) c.237A>C n.336A>C n.508A>C c.7085A>C (p.Asn2362Thr) c.7061A>C (p.Asn2354Thr) c.7121A>C (p.Asn2374Thr) | |
| 17 | g.31343040A>G | CA399015569 | NF1 | c.7076A>G (p.Asn2359Ser) c.1658A>G (p.Asn553Ser) c.1250A>G (p.Asn417Ser) n.3739A>G c.33A>G c.7124A>G (p.Asn2375Ser) c.7094A>G (p.Asn2365Ser) c.7031A>G (p.Asn2344Ser) c.6029A>G (p.Asn2010Ser) c.477A>G c.7230A>G (n.7230A>G) c.237A>G n.336A>G n.508A>G c.7085A>G (p.Asn2362Ser) c.7061A>G (p.Asn2354Ser) c.7121A>G (p.Asn2374Ser) | |
| 17 | g.31343040A>T | CA399015570 | NF1 | c.7076A>T (p.Asn2359Ile) c.1658A>T (p.Asn553Ile) c.1250A>T (p.Asn417Ile) n.3739A>T c.33A>T c.7124A>T (p.Asn2375Ile) c.7094A>T (p.Asn2365Ile) c.7031A>T (p.Asn2344Ile) c.6029A>T (p.Asn2010Ile) c.477A>T c.7230A>T (n.7230A>T) c.237A>T n.336A>T n.508A>T c.7085A>T (p.Asn2362Ile) c.7061A>T (p.Asn2354Ile) c.7121A>T (p.Asn2374Ile) | dbSNP |
| 17 | g.31343041T>A | CA399015571 | NF1 | c.7077T>A (p.Asn2359Lys) c.1659T>A (p.Asn553Lys) c.1251T>A (p.Asn417Lys) n.3740T>A c.34T>A c.7125T>A (p.Asn2375Lys) c.7095T>A (p.Asn2365Lys) c.7032T>A (p.Asn2344Lys) c.6030T>A (p.Asn2010Lys) c.478T>A c.7231T>A (n.7231T>A) c.238T>A n.337T>A n.509T>A c.7086T>A (p.Asn2362Lys) c.7062T>A (p.Asn2354Lys) c.7122T>A (p.Asn2374Lys) | dbSNP |
| 17 | g.31343041T>C | CA289396199 | NF1 | c.7077T>C (p.Asn2359=) c.1659T>C (p.Asn553=) c.1251T>C (p.Asn417=) n.3740T>C c.34T>C c.7125T>C (p.Asn2375=) c.7095T>C (p.Asn2365=) c.7032T>C (p.Asn2344=) c.6030T>C (p.Asn2010=) c.478T>C c.7231T>C (n.7231T>C) c.238T>C n.337T>C n.509T>C c.7086T>C (p.Asn2362=) c.7062T>C (p.Asn2354=) c.7122T>C (p.Asn2374=) | ClinVar dbSNP |
| 17 | g.31343041T>G | CA399015572 | NF1 | c.7077T>G (p.Asn2359Lys) c.1659T>G (p.Asn553Lys) c.1251T>G (p.Asn417Lys) n.3740T>G c.34T>G c.7125T>G (p.Asn2375Lys) c.7095T>G (p.Asn2365Lys) c.7032T>G (p.Asn2344Lys) c.6030T>G (p.Asn2010Lys) c.478T>G c.7231T>G (n.7231T>G) c.238T>G n.337T>G n.509T>G c.7086T>G (p.Asn2362Lys) c.7062T>G (p.Asn2354Lys) c.7122T>G (p.Asn2374Lys) | |
| 17 | g.31343041T= | CA2255605074 | NF1 | c.7077T= (p.Asn2359=) c.1659T= (p.Asn553=) c.1251T= (p.Asn417=) n.3740T= c.34T= c.7125T= (p.Asn2375=) c.7095T= (p.Asn2365=) c.7032T= (p.Asn2344=) c.6030T= (p.Asn2010=) c.478T= c.7231T= (n.7231T=) c.238T= n.337T= n.509T= c.7086T= (p.Asn2362=) c.7062T= (p.Asn2354=) c.7122T= (p.Asn2374=) | |
| 17 | g.31343041_31343042dup | CA2739265557 | NF1 | c.7077_7078dup (p.Pro2360LeufsTer31) c.1659_1660dup (p.Pro554LeufsTer31) c.1251_1252dup (p.Pro418LeufsTer31) n.3740_3741dup c.34_35dup c.7125_7126dup (p.Pro2376LeufsTer31) c.7095_7096dup (p.Pro2366LeufsTer31) c.7032_7033dup (p.Pro2345LeufsTer31) c.6030_6031dup (p.Pro2011LeufsTer31) c.478_479dup c.7231_7232dup (n.7231_7232dup) c.238_239dup n.337_338dup n.509_510dup c.7086_7087dup (p.Pro2363LeufsTer31) c.7062_7063dup (p.Pro2355LeufsTer31) c.7122_7123dup (p.Pro2375LeufsTer31) | ClinVar |
| 17 | g.31343041_31343042insG | CA2695225445 | NF1 | c.7077_7078insG (p.Pro2360AlafsTer20) c.1659_1660insG (p.Pro554AlafsTer20) c.1251_1252insG (p.Pro418AlafsTer20) n.3740_3741insG c.34_35insG c.7125_7126insG (p.Pro2376AlafsTer20) c.7095_7096insG (p.Pro2366AlafsTer20) c.7032_7033insG (p.Pro2345AlafsTer20) c.6030_6031insG (p.Pro2011AlafsTer20) c.478_479insG c.7231_7232insG (n.7231_7232insG) c.238_239insG n.337_338insG n.509_510insG c.7086_7087insG (p.Pro2363AlafsTer20) c.7062_7063insG (p.Pro2355AlafsTer20) c.7122_7123insG (p.Pro2375AlafsTer20) | |
| 17 | g.31343042C>A | CA399015573 | NF1 | c.7078C>A (p.Pro2360Thr) c.1660C>A (p.Pro554Thr) c.1252C>A (p.Pro418Thr) n.3741C>A c.35C>A c.7126C>A (p.Pro2376Thr) c.7096C>A (p.Pro2366Thr) c.7033C>A (p.Pro2345Thr) c.6031C>A (p.Pro2011Thr) c.479C>A c.7232C>A (n.7232C>A) c.239C>A n.338C>A n.510C>A c.7087C>A (p.Pro2363Thr) c.7063C>A (p.Pro2355Thr) c.7123C>A (p.Pro2375Thr) | |
| 17 | g.31343042C>G | CA399015574 | NF1 | c.7078C>G (p.Pro2360Ala) c.1660C>G (p.Pro554Ala) c.1252C>G (p.Pro418Ala) n.3741C>G c.35C>G c.7126C>G (p.Pro2376Ala) c.7096C>G (p.Pro2366Ala) c.7033C>G (p.Pro2345Ala) c.6031C>G (p.Pro2011Ala) c.479C>G c.7232C>G (n.7232C>G) c.239C>G n.338C>G n.510C>G c.7087C>G (p.Pro2363Ala) c.7063C>G (p.Pro2355Ala) c.7123C>G (p.Pro2375Ala) | dbSNP |
| 17 | g.31343042C>T | CA399015575 | NF1 | c.7078C>T (p.Pro2360Ser) c.1660C>T (p.Pro554Ser) c.1252C>T (p.Pro418Ser) n.3741C>T c.35C>T c.7126C>T (p.Pro2376Ser) c.7096C>T (p.Pro2366Ser) c.7033C>T (p.Pro2345Ser) c.6031C>T (p.Pro2011Ser) c.479C>T c.7232C>T (n.7232C>T) c.239C>T n.338C>T n.510C>T c.7087C>T (p.Pro2363Ser) c.7063C>T (p.Pro2355Ser) c.7123C>T (p.Pro2375Ser) | dbSNP |
| 17 | g.31343043del | CA2739265558 | NF1 | c.7079del (p.Pro2360LeufsTer30) c.1661del (p.Pro554LeufsTer30) c.1253del (p.Pro418LeufsTer30) n.3742del c.36del c.7127del (p.Pro2376LeufsTer30) c.7097del (p.Pro2366LeufsTer30) c.7034del (p.Pro2345LeufsTer30) c.6032del (p.Pro2011LeufsTer30) c.480del c.7233del (n.7233del) c.240del n.339del n.511del c.7088del (p.Pro2363LeufsTer30) c.7064del (p.Pro2355LeufsTer30) c.7124del (p.Pro2375LeufsTer30) | ClinVar |
| 17 | g.31343043C>A | CA399015576 | NF1 | c.7079C>A (p.Pro2360His) c.1661C>A (p.Pro554His) c.1253C>A (p.Pro418His) n.3742C>A c.36C>A c.7127C>A (p.Pro2376His) c.7097C>A (p.Pro2366His) c.7034C>A (p.Pro2345His) c.6032C>A (p.Pro2011His) c.480C>A c.7233C>A (n.7233C>A) c.240C>A n.339C>A n.511C>A c.7088C>A (p.Pro2363His) c.7064C>A (p.Pro2355His) c.7124C>A (p.Pro2375His) | dbSNP |
| 17 | g.31343043C= | CA2255605075 | NF1 | c.7079C= (p.Pro2360=) c.1661C= (p.Pro554=) c.1253C= (p.Pro418=) n.3742C= c.36C= c.7127C= (p.Pro2376=) c.7097C= (p.Pro2366=) c.7034C= (p.Pro2345=) c.6032C= (p.Pro2011=) c.480C= c.7233C= (n.7233C=) c.240C= n.339C= n.511C= c.7088C= (p.Pro2363=) c.7064C= (p.Pro2355=) c.7124C= (p.Pro2375=) | |
| 17 | g.31343043C>G | CA399015577 | NF1 | c.7079C>G (p.Pro2360Arg) c.1661C>G (p.Pro554Arg) c.1253C>G (p.Pro418Arg) n.3742C>G c.36C>G c.7127C>G (p.Pro2376Arg) c.7097C>G (p.Pro2366Arg) c.7034C>G (p.Pro2345Arg) c.6032C>G (p.Pro2011Arg) c.480C>G c.7233C>G (n.7233C>G) c.240C>G n.339C>G n.511C>G c.7088C>G (p.Pro2363Arg) c.7064C>G (p.Pro2355Arg) c.7124C>G (p.Pro2375Arg) | ClinVar dbSNP |
| 17 | g.31343043C>T | CA399015578 | NF1 | c.7079C>T (p.Pro2360Leu) c.1661C>T (p.Pro554Leu) c.1253C>T (p.Pro418Leu) n.3742C>T c.36C>T c.7127C>T (p.Pro2376Leu) c.7097C>T (p.Pro2366Leu) c.7034C>T (p.Pro2345Leu) c.6032C>T (p.Pro2011Leu) c.480C>T c.7233C>T (n.7233C>T) c.240C>T n.339C>T n.511C>T c.7088C>T (p.Pro2363Leu) c.7064C>T (p.Pro2355Leu) c.7124C>T (p.Pro2375Leu) | ClinVar dbSNP |
| 17 | g.31343044T>A | CA499236819 | NF1 | c.7080T>A (p.Pro2360=) c.1662T>A (p.Pro554=) c.1254T>A (p.Pro418=) n.3743T>A c.37T>A c.7128T>A (p.Pro2376=) c.7098T>A (p.Pro2366=) c.7035T>A (p.Pro2345=) c.6033T>A (p.Pro2011=) c.481T>A c.7234T>A (n.7234T>A) c.241T>A n.340T>A n.512T>A c.7089T>A (p.Pro2363=) c.7065T>A (p.Pro2355=) c.7125T>A (p.Pro2375=) | dbSNP |
| 17 | g.31343044T>C | CA499236820 | NF1 | c.7080T>C (p.Pro2360=) c.1662T>C (p.Pro554=) c.1254T>C (p.Pro418=) n.3743T>C c.37T>C c.7128T>C (p.Pro2376=) c.7098T>C (p.Pro2366=) c.7035T>C (p.Pro2345=) c.6033T>C (p.Pro2011=) c.481T>C c.7234T>C (n.7234T>C) c.241T>C n.340T>C n.512T>C c.7089T>C (p.Pro2363=) c.7065T>C (p.Pro2355=) c.7125T>C (p.Pro2375=) | dbSNP |
| 17 | g.31343044T>G | CA499236821 | NF1 | c.7080T>G (p.Pro2360=) c.1662T>G (p.Pro554=) c.1254T>G (p.Pro418=) n.3743T>G c.37T>G c.7128T>G (p.Pro2376=) c.7098T>G (p.Pro2366=) c.7035T>G (p.Pro2345=) c.6033T>G (p.Pro2011=) c.481T>G c.7234T>G (n.7234T>G) c.241T>G n.340T>G n.512T>G c.7089T>G (p.Pro2363=) c.7065T>G (p.Pro2355=) c.7125T>G (p.Pro2375=) | |
| 17 | g.31343045C>A | CA399015579 | NF1 | c.7081C>A (p.Leu2361Met) c.1663C>A (p.Leu555Met) c.1255C>A (p.Leu419Met) n.3744C>A c.38C>A c.7129C>A (p.Leu2377Met) c.7099C>A (p.Leu2367Met) c.7036C>A (p.Leu2346Met) c.6034C>A (p.Leu2012Met) c.482C>A c.7235C>A (n.7235C>A) c.242C>A n.341C>A n.513C>A c.7090C>A (p.Leu2364Met) c.7066C>A (p.Leu2356Met) c.7126C>A (p.Leu2376Met) | dbSNP |
| 17 | g.31343045C= | CA2255605076 | NF1 | c.7081C= (p.Leu2361=) c.1663C= (p.Leu555=) c.1255C= (p.Leu419=) n.3744C= c.38C= c.7129C= (p.Leu2377=) c.7099C= (p.Leu2367=) c.7036C= (p.Leu2346=) c.6034C= (p.Leu2012=) c.482C= c.7235C= (n.7235C=) c.242C= n.341C= n.513C= c.7090C= (p.Leu2364=) c.7066C= (p.Leu2356=) c.7126C= (p.Leu2376=) | |
| 17 | g.31343045C>G | CA399015580 | NF1 | c.7081C>G (p.Leu2361Val) c.1663C>G (p.Leu555Val) c.1255C>G (p.Leu419Val) n.3744C>G c.38C>G c.7129C>G (p.Leu2377Val) c.7099C>G (p.Leu2367Val) c.7036C>G (p.Leu2346Val) c.6034C>G (p.Leu2012Val) c.482C>G c.7235C>G (n.7235C>G) c.242C>G n.341C>G n.513C>G c.7090C>G (p.Leu2364Val) c.7066C>G (p.Leu2356Val) c.7126C>G (p.Leu2376Val) | ClinVar dbSNP |
| 17 | g.31343045C>T | CA499236822 | NF1 | c.7081C>T (p.Leu2361=) c.1663C>T (p.Leu555=) c.1255C>T (p.Leu419=) n.3744C>T c.38C>T c.7129C>T (p.Leu2377=) c.7099C>T (p.Leu2367=) c.7036C>T (p.Leu2346=) c.6034C>T (p.Leu2012=) c.482C>T c.7235C>T (n.7235C>T) c.242C>T n.341C>T n.513C>T c.7090C>T (p.Leu2364=) c.7066C>T (p.Leu2356=) c.7126C>T (p.Leu2376=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31343046T>A | CA399015583 | NF1 | c.7082T>A (p.Leu2361Gln) c.1664T>A (p.Leu555Gln) c.1256T>A (p.Leu419Gln) n.3745T>A c.39T>A c.7130T>A (p.Leu2377Gln) c.7100T>A (p.Leu2367Gln) c.7037T>A (p.Leu2346Gln) c.6035T>A (p.Leu2012Gln) c.483T>A c.7236T>A (n.7236T>A) c.243T>A n.342T>A n.514T>A c.7091T>A (p.Leu2364Gln) c.7067T>A (p.Leu2356Gln) c.7127T>A (p.Leu2376Gln) | COSMIC COSMIC COSMIC |
| 17 | g.31343046T>C | CA399015581 | NF1 | c.7082T>C (p.Leu2361Pro) c.1664T>C (p.Leu555Pro) c.1256T>C (p.Leu419Pro) n.3745T>C c.39T>C c.7130T>C (p.Leu2377Pro) c.7100T>C (p.Leu2367Pro) c.7037T>C (p.Leu2346Pro) c.6035T>C (p.Leu2012Pro) c.483T>C c.7236T>C (n.7236T>C) c.243T>C n.342T>C n.514T>C c.7091T>C (p.Leu2364Pro) c.7067T>C (p.Leu2356Pro) c.7127T>C (p.Leu2376Pro) | |
| 17 | g.31343046T>G | CA399015582 | NF1 | c.7082T>G (p.Leu2361Arg) c.1664T>G (p.Leu555Arg) c.1256T>G (p.Leu419Arg) n.3745T>G c.39T>G c.7130T>G (p.Leu2377Arg) c.7100T>G (p.Leu2367Arg) c.7037T>G (p.Leu2346Arg) c.6035T>G (p.Leu2012Arg) c.483T>G c.7236T>G (n.7236T>G) c.243T>G n.342T>G n.514T>G c.7091T>G (p.Leu2364Arg) c.7067T>G (p.Leu2356Arg) c.7127T>G (p.Leu2376Arg) | |
| 17 | g.31343046_31343047delinsTG | CA2255605077 | NF1 | c.7082_7083delinsTG (p.Leu2361=) c.1664_1665delinsTG (p.Leu555=) c.1256_1257delinsTG (p.Leu419=) n.3745_3746delinsTG c.39_40delinsTG c.7130_7131delinsTG (p.Leu2377=) c.7100_7101delinsTG (p.Leu2367=) c.7037_7038delinsTG (p.Leu2346=) c.6035_6036delinsTG (p.Leu2012=) c.483_484delinsTG c.7236_7237delinsTG (n.7236_7237delinsTG) c.243_244delinsTG n.342_343delinsTG n.514_515delinsTG c.7091_7092delinsTG (p.Leu2364=) c.7067_7068delinsTG (p.Leu2356=) c.7127_7128delinsTG (p.Leu2376=) | |
| 17 | g.31343047G>A | CA499236823 | NF1 | c.7083G>A (p.Leu2361=) c.1665G>A (p.Leu555=) c.1257G>A (p.Leu419=) n.3746G>A c.40G>A c.7131G>A (p.Leu2377=) c.7101G>A (p.Leu2367=) c.7038G>A (p.Leu2346=) c.6036G>A (p.Leu2012=) c.484G>A c.7237G>A (n.7237G>A) c.244G>A n.343G>A n.515G>A c.7092G>A (p.Leu2364=) c.7068G>A (p.Leu2356=) c.7128G>A (p.Leu2376=) | ClinVar dbSNP |
| 17 | g.31343047G>C | CA499236824 | NF1 | c.7083G>C (p.Leu2361=) c.1665G>C (p.Leu555=) c.1257G>C (p.Leu419=) n.3746G>C c.40G>C c.7131G>C (p.Leu2377=) c.7101G>C (p.Leu2367=) c.7038G>C (p.Leu2346=) c.6036G>C (p.Leu2012=) c.484G>C c.7237G>C (n.7237G>C) c.244G>C n.343G>C n.515G>C c.7092G>C (p.Leu2364=) c.7068G>C (p.Leu2356=) c.7128G>C (p.Leu2376=) | dbSNP |
| 17 | g.31343047G= | CA2255605078 | NF1 | c.7083G= (p.Leu2361=) c.1665G= (p.Leu555=) c.1257G= (p.Leu419=) n.3746G= c.40G= c.7131G= (p.Leu2377=) c.7101G= (p.Leu2367=) c.7038G= (p.Leu2346=) c.6036G= (p.Leu2012=) c.484G= c.7237G= (n.7237G=) c.244G= n.343G= n.515G= c.7092G= (p.Leu2364=) c.7068G= (p.Leu2356=) c.7128G= (p.Leu2376=) | |
| 17 | g.31343047G>T | CA499236825 | NF1 | c.7083G>T (p.Leu2361=) c.1665G>T (p.Leu555=) c.1257G>T (p.Leu419=) n.3746G>T c.40G>T c.7131G>T (p.Leu2377=) c.7101G>T (p.Leu2367=) c.7038G>T (p.Leu2346=) c.6036G>T (p.Leu2012=) c.484G>T c.7237G>T (n.7237G>T) c.244G>T n.343G>T n.515G>T c.7092G>T (p.Leu2364=) c.7068G>T (p.Leu2356=) c.7128G>T (p.Leu2376=) | |
| 17 | g.31343048del | CA645369652 | NF1 | c.7084del (p.Glu2362SerfsTer28) c.1666del (p.Glu556SerfsTer28) c.1258del (p.Glu420SerfsTer28) n.3747del c.41del c.7132del (p.Glu2378SerfsTer28) c.7102del (p.Glu2368SerfsTer28) c.7039del (p.Glu2347SerfsTer28) c.6037del (p.Glu2013SerfsTer28) c.485del c.7238del (n.7238del) c.245del n.344del n.516del c.7093del (p.Glu2365SerfsTer28) c.7069del (p.Glu2357SerfsTer28) c.7129del (p.Glu2377SerfsTer28) | ClinVar dbSNP |
| 17 | g.31343048G>A | CA399015584 | NF1 | c.7084G>A (p.Glu2362Lys) c.1666G>A (p.Glu556Lys) c.1258G>A (p.Glu420Lys) n.3747G>A c.41G>A c.7132G>A (p.Glu2378Lys) c.7102G>A (p.Glu2368Lys) c.7039G>A (p.Glu2347Lys) c.6037G>A (p.Glu2013Lys) c.485G>A c.7238G>A (n.7238G>A) c.245G>A n.344G>A n.516G>A c.7093G>A (p.Glu2365Lys) c.7069G>A (p.Glu2357Lys) c.7129G>A (p.Glu2377Lys) | ClinVar dbSNP |
| 17 | g.31343048G>C | CA399015585 | NF1 | c.7084G>C (p.Glu2362Gln) c.1666G>C (p.Glu556Gln) c.1258G>C (p.Glu420Gln) n.3747G>C c.41G>C c.7132G>C (p.Glu2378Gln) c.7102G>C (p.Glu2368Gln) c.7039G>C (p.Glu2347Gln) c.6037G>C (p.Glu2013Gln) c.485G>C c.7238G>C (n.7238G>C) c.245G>C n.344G>C n.516G>C c.7093G>C (p.Glu2365Gln) c.7069G>C (p.Glu2357Gln) c.7129G>C (p.Glu2377Gln) | ClinVar dbSNP |
| 17 | g.31343048G>T | CA399015586 | NF1 | c.7084G>T (p.Glu2362Ter) c.1666G>T (p.Glu556Ter) c.1258G>T (p.Glu420Ter) n.3747G>T c.41G>T c.7132G>T (p.Glu2378Ter) c.7102G>T (p.Glu2368Ter) c.7039G>T (p.Glu2347Ter) c.6037G>T (p.Glu2013Ter) c.485G>T c.7238G>T (n.7238G>T) c.245G>T n.344G>T n.516G>T c.7093G>T (p.Glu2365Ter) c.7069G>T (p.Glu2357Ter) c.7129G>T (p.Glu2377Ter) | dbSNP |
| 17 | g.31343049A>C | CA399015587 | NF1 | c.7085A>C (p.Glu2362Ala) c.1667A>C (p.Glu556Ala) c.1259A>C (p.Glu420Ala) n.3748A>C c.42A>C c.7133A>C (p.Glu2378Ala) c.7103A>C (p.Glu2368Ala) c.7040A>C (p.Glu2347Ala) c.6038A>C (p.Glu2013Ala) c.486A>C c.7239A>C (n.7239A>C) c.246A>C n.345A>C n.517A>C c.7094A>C (p.Glu2365Ala) c.7070A>C (p.Glu2357Ala) c.7130A>C (p.Glu2377Ala) | |
| 17 | g.31343049A>G | CA399015588 | NF1 | c.7085A>G (p.Glu2362Gly) c.1667A>G (p.Glu556Gly) c.1259A>G (p.Glu420Gly) n.3748A>G c.42A>G c.7133A>G (p.Glu2378Gly) c.7103A>G (p.Glu2368Gly) c.7040A>G (p.Glu2347Gly) c.6038A>G (p.Glu2013Gly) c.486A>G c.7239A>G (n.7239A>G) c.246A>G n.345A>G n.517A>G c.7094A>G (p.Glu2365Gly) c.7070A>G (p.Glu2357Gly) c.7130A>G (p.Glu2377Gly) | |
| 17 | g.31343049A>T | CA399015589 | NF1 | c.7085A>T (p.Glu2362Val) c.1667A>T (p.Glu556Val) c.1259A>T (p.Glu420Val) n.3748A>T c.42A>T c.7133A>T (p.Glu2378Val) c.7103A>T (p.Glu2368Val) c.7040A>T (p.Glu2347Val) c.6038A>T (p.Glu2013Val) c.486A>T c.7239A>T (n.7239A>T) c.246A>T n.345A>T n.517A>T c.7094A>T (p.Glu2365Val) c.7070A>T (p.Glu2357Val) c.7130A>T (p.Glu2377Val) | dbSNP |