UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31356473_31364024delinsCGCCACGGC | CA658761034 | NF1 | c.7611_*12+1660delinsCGCCACGGC c.2193_2942-3201delinsCGCCACGGC c.1785_2533+3321delinsCGCCACGGC c.679_1428-3201delinsCGCCACGGC c.7659_8407+3321delinsCGCCACGGC c.2193_2941+3321delinsCGCCACGGC c.7629_8377+3321delinsCGCCACGGC c.7566_8314+3321delinsCGCCACGGC c.6564_7313-3201delinsCGCCACGGC c.1012_1760+3321delinsCGCCACGGC c.7765_8513+3321delinsCGCCACGGC c.7629_8378-3201delinsCGCCACGGC c.7566_8315-3201delinsCGCCACGGC c.7659_8408-3201delinsCGCCACGGC c.7620_8369-3201delinsCGCCACGGC c.7596_8345-3201delinsCGCCACGGC c.7659_*12+1660delinsCGCCACGGC c.7656_8405-3201delinsCGCCACGGC c.7646-487_8285-3201delinsCGCCACGGC | |
| 17 | g.31357331A= | CA2255612100 | NF1 | c.7914A= (p.Ala2638=) c.2496A= (p.Ala832=) c.2088A= (p.Ala696=) n.4577A= c.982A= c.7962A= (p.Ala2654=) c.7932A= (p.Ala2644=) c.7869A= (p.Ala2623=) c.6867A= (p.Ala2289=) c.1315A= n.1528A= c.8068A= (n.8068A=) c.917A= c.7923A= (p.Ala2641=) c.7899A= (p.Ala2633=) c.7959A= (p.Ala2653=) c.7839A= (p.Ala2613=) | |
| 17 | g.31357331A>C | CA499340831 | NF1 | c.7914A>C (p.Ala2638=) c.2496A>C (p.Ala832=) c.2088A>C (p.Ala696=) n.4577A>C c.982A>C c.7962A>C (p.Ala2654=) c.7932A>C (p.Ala2644=) c.7869A>C (p.Ala2623=) c.6867A>C (p.Ala2289=) c.1315A>C n.1528A>C c.8068A>C (n.8068A>C) c.917A>C c.7923A>C (p.Ala2641=) c.7899A>C (p.Ala2633=) c.7959A>C (p.Ala2653=) c.7839A>C (p.Ala2613=) | |
| 17 | g.31357331A>G | CA499340833 | NF1 | c.7914A>G (p.Ala2638=) c.2496A>G (p.Ala832=) c.2088A>G (p.Ala696=) n.4577A>G c.982A>G c.7962A>G (p.Ala2654=) c.7932A>G (p.Ala2644=) c.7869A>G (p.Ala2623=) c.6867A>G (p.Ala2289=) c.1315A>G n.1528A>G c.8068A>G (n.8068A>G) c.917A>G c.7923A>G (p.Ala2641=) c.7899A>G (p.Ala2633=) c.7959A>G (p.Ala2653=) c.7839A>G (p.Ala2613=) | dbSNP |
| 17 | g.31357331A>T | CA499340835 | NF1 | c.7914A>T (p.Ala2638=) c.2496A>T (p.Ala832=) c.2088A>T (p.Ala696=) n.4577A>T c.982A>T c.7962A>T (p.Ala2654=) c.7932A>T (p.Ala2644=) c.7869A>T (p.Ala2623=) c.6867A>T (p.Ala2289=) c.1315A>T n.1528A>T c.8068A>T (n.8068A>T) c.917A>T c.7923A>T (p.Ala2641=) c.7899A>T (p.Ala2633=) c.7959A>T (p.Ala2653=) c.7839A>T (p.Ala2613=) | |
| 17 | g.31357332G>A | CA399203487 | NF1 | c.7915G>A (p.Glu2639Lys) c.2497G>A (p.Glu833Lys) c.2089G>A (p.Glu697Lys) n.4578G>A c.983G>A c.7963G>A (p.Glu2655Lys) c.7933G>A (p.Glu2645Lys) c.7870G>A (p.Glu2624Lys) c.6868G>A (p.Glu2290Lys) c.1316G>A n.1529G>A c.8069G>A (n.8069G>A) c.918G>A c.7924G>A (p.Glu2642Lys) c.7900G>A (p.Glu2634Lys) c.7960G>A (p.Glu2654Lys) c.7840G>A (p.Glu2614Lys) | ClinVar dbSNP |
| 17 | g.31357332G>C | CA399203488 | NF1 | c.7915G>C (p.Glu2639Gln) c.2497G>C (p.Glu833Gln) c.2089G>C (p.Glu697Gln) n.4578G>C c.983G>C c.7963G>C (p.Glu2655Gln) c.7933G>C (p.Glu2645Gln) c.7870G>C (p.Glu2624Gln) c.6868G>C (p.Glu2290Gln) c.1316G>C n.1529G>C c.8069G>C (n.8069G>C) c.918G>C c.7924G>C (p.Glu2642Gln) c.7900G>C (p.Glu2634Gln) c.7960G>C (p.Glu2654Gln) c.7840G>C (p.Glu2614Gln) | dbSNP gnomAD v4 |
| 17 | g.31357332G>T | CA399203489 | NF1 | c.7915G>T (p.Glu2639Ter) c.2497G>T (p.Glu833Ter) c.2089G>T (p.Glu697Ter) n.4578G>T c.983G>T c.7963G>T (p.Glu2655Ter) c.7933G>T (p.Glu2645Ter) c.7870G>T (p.Glu2624Ter) c.6868G>T (p.Glu2290Ter) c.1316G>T n.1529G>T c.8069G>T (n.8069G>T) c.918G>T c.7924G>T (p.Glu2642Ter) c.7900G>T (p.Glu2634Ter) c.7960G>T (p.Glu2654Ter) c.7840G>T (p.Glu2614Ter) | |
| 17 | g.31357333A>C | CA399203492 | NF1 | c.7916A>C (p.Glu2639Ala) c.2498A>C (p.Glu833Ala) c.2090A>C (p.Glu697Ala) n.4579A>C c.984A>C c.7964A>C (p.Glu2655Ala) c.7934A>C (p.Glu2645Ala) c.7871A>C (p.Glu2624Ala) c.6869A>C (p.Glu2290Ala) c.1317A>C n.1530A>C c.8070A>C (n.8070A>C) c.919A>C c.7925A>C (p.Glu2642Ala) c.7901A>C (p.Glu2634Ala) c.7961A>C (p.Glu2654Ala) c.7841A>C (p.Glu2614Ala) | |
| 17 | g.31357333A>G | CA399203490 | NF1 | c.7916A>G (p.Glu2639Gly) c.2498A>G (p.Glu833Gly) c.2090A>G (p.Glu697Gly) n.4579A>G c.984A>G c.7964A>G (p.Glu2655Gly) c.7934A>G (p.Glu2645Gly) c.7871A>G (p.Glu2624Gly) c.6869A>G (p.Glu2290Gly) c.1317A>G n.1530A>G c.8070A>G (n.8070A>G) c.919A>G c.7925A>G (p.Glu2642Gly) c.7901A>G (p.Glu2634Gly) c.7961A>G (p.Glu2654Gly) c.7841A>G (p.Glu2614Gly) | ClinVar |
| 17 | g.31357333A>T | CA399203491 | NF1 | c.7916A>T (p.Glu2639Val) c.2498A>T (p.Glu833Val) c.2090A>T (p.Glu697Val) n.4579A>T c.984A>T c.7964A>T (p.Glu2655Val) c.7934A>T (p.Glu2645Val) c.7871A>T (p.Glu2624Val) c.6869A>T (p.Glu2290Val) c.1317A>T n.1530A>T c.8070A>T (n.8070A>T) c.919A>T c.7925A>T (p.Glu2642Val) c.7901A>T (p.Glu2634Val) c.7961A>T (p.Glu2654Val) c.7841A>T (p.Glu2614Val) | dbSNP |
| 17 | g.31357333_31357334insC | CA2739267296 | NF1 | c.7916_7917insC (p.Glu2639AspfsTer15) c.2498_2499insC (p.Glu833AspfsTer15) c.2090_2091insC (p.Glu697AspfsTer15) n.4579_4580insC c.984_985insC c.7964_7965insC (p.Glu2655AspfsTer15) c.7934_7935insC (p.Glu2645AspfsTer15) c.7871_7872insC (p.Glu2624AspfsTer15) c.6869_6870insC (p.Glu2290AspfsTer15) c.1317_1318insC n.1530_1531insC c.8070_8071insC (n.8070_8071insC) c.919_920insC c.7925_7926insC (p.Glu2642AspfsTer15) c.7901_7902insC (p.Glu2634AspfsTer15) c.7961_7962insC (p.Glu2654AspfsTer15) c.7841_7842insC (p.Glu2614AspfsTer15) | ClinVar |
| 17 | g.31357334G>A | CA499340848 | NF1 | c.7917G>A (p.Glu2639=) c.2499G>A (p.Glu833=) c.2091G>A (p.Glu697=) n.4580G>A c.985G>A c.7965G>A (p.Glu2655=) c.7935G>A (p.Glu2645=) c.7872G>A (p.Glu2624=) c.6870G>A (p.Glu2290=) c.1318G>A n.1531G>A c.8071G>A (n.8071G>A) c.920G>A c.7926G>A (p.Glu2642=) c.7902G>A (p.Glu2634=) c.7962G>A (p.Glu2654=) c.7842G>A (p.Glu2614=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31357334G>C | CA399203493 | NF1 | c.7917G>C (p.Glu2639Asp) c.2499G>C (p.Glu833Asp) c.2091G>C (p.Glu697Asp) n.4580G>C c.985G>C c.7965G>C (p.Glu2655Asp) c.7935G>C (p.Glu2645Asp) c.7872G>C (p.Glu2624Asp) c.6870G>C (p.Glu2290Asp) c.1318G>C n.1531G>C c.8071G>C (n.8071G>C) c.920G>C c.7926G>C (p.Glu2642Asp) c.7902G>C (p.Glu2634Asp) c.7962G>C (p.Glu2654Asp) c.7842G>C (p.Glu2614Asp) | dbSNP |
| 17 | g.31357334G>T | CA399203494 | NF1 | c.7917G>T (p.Glu2639Asp) c.2499G>T (p.Glu833Asp) c.2091G>T (p.Glu697Asp) n.4580G>T c.985G>T c.7965G>T (p.Glu2655Asp) c.7935G>T (p.Glu2645Asp) c.7872G>T (p.Glu2624Asp) c.6870G>T (p.Glu2290Asp) c.1318G>T n.1531G>T c.8071G>T (n.8071G>T) c.920G>T c.7926G>T (p.Glu2642Asp) c.7902G>T (p.Glu2634Asp) c.7962G>T (p.Glu2654Asp) c.7842G>T (p.Glu2614Asp) | dbSNP |
| 17 | g.31357335G>A | CA399203495 | NF1 | c.7918G>A (p.Ala2640Thr) c.2500G>A (p.Ala834Thr) c.2092G>A (p.Ala698Thr) n.4581G>A c.986G>A c.7966G>A (p.Ala2656Thr) c.7936G>A (p.Ala2646Thr) c.7873G>A (p.Ala2625Thr) c.6871G>A (p.Ala2291Thr) c.1319G>A n.1532G>A c.8072G>A (n.8072G>A) c.921G>A c.7927G>A (p.Ala2643Thr) c.7903G>A (p.Ala2635Thr) c.7963G>A (p.Ala2655Thr) c.7843G>A (p.Ala2615Thr) | dbSNP COSMIC COSMIC COSMIC |
| 17 | g.31357335G>C | CA399203496 | NF1 | c.7918G>C (p.Ala2640Pro) c.2500G>C (p.Ala834Pro) c.2092G>C (p.Ala698Pro) n.4581G>C c.986G>C c.7966G>C (p.Ala2656Pro) c.7936G>C (p.Ala2646Pro) c.7873G>C (p.Ala2625Pro) c.6871G>C (p.Ala2291Pro) c.1319G>C n.1532G>C c.8072G>C (n.8072G>C) c.921G>C c.7927G>C (p.Ala2643Pro) c.7903G>C (p.Ala2635Pro) c.7963G>C (p.Ala2655Pro) c.7843G>C (p.Ala2615Pro) | dbSNP |
| 17 | g.31357335G>T | CA399203497 | NF1 | c.7918G>T (p.Ala2640Ser) c.2500G>T (p.Ala834Ser) c.2092G>T (p.Ala698Ser) n.4581G>T c.986G>T c.7966G>T (p.Ala2656Ser) c.7936G>T (p.Ala2646Ser) c.7873G>T (p.Ala2625Ser) c.6871G>T (p.Ala2291Ser) c.1319G>T n.1532G>T c.8072G>T (n.8072G>T) c.921G>T c.7927G>T (p.Ala2643Ser) c.7903G>T (p.Ala2635Ser) c.7963G>T (p.Ala2655Ser) c.7843G>T (p.Ala2615Ser) | |
| 17 | g.31357336C>A | CA399203498 | NF1 | c.7919C>A (p.Ala2640Asp) c.2501C>A (p.Ala834Asp) c.2093C>A (p.Ala698Asp) n.4582C>A c.987C>A c.7967C>A (p.Ala2656Asp) c.7937C>A (p.Ala2646Asp) c.7874C>A (p.Ala2625Asp) c.6872C>A (p.Ala2291Asp) c.1320C>A n.1533C>A c.8073C>A (n.8073C>A) c.922C>A c.7928C>A (p.Ala2643Asp) c.7904C>A (p.Ala2635Asp) c.7964C>A (p.Ala2655Asp) c.7844C>A (p.Ala2615Asp) | dbSNP |
| 17 | g.31357336C>G | CA399203499 | NF1 | c.7919C>G (p.Ala2640Gly) c.2501C>G (p.Ala834Gly) c.2093C>G (p.Ala698Gly) n.4582C>G c.987C>G c.7967C>G (p.Ala2656Gly) c.7937C>G (p.Ala2646Gly) c.7874C>G (p.Ala2625Gly) c.6872C>G (p.Ala2291Gly) c.1320C>G n.1533C>G c.8073C>G (n.8073C>G) c.922C>G c.7928C>G (p.Ala2643Gly) c.7904C>G (p.Ala2635Gly) c.7964C>G (p.Ala2655Gly) c.7844C>G (p.Ala2615Gly) | dbSNP |
| 17 | g.31357336C>T | CA399203500 | NF1 | c.7919C>T (p.Ala2640Val) c.2501C>T (p.Ala834Val) c.2093C>T (p.Ala698Val) n.4582C>T c.987C>T c.7967C>T (p.Ala2656Val) c.7937C>T (p.Ala2646Val) c.7874C>T (p.Ala2625Val) c.6872C>T (p.Ala2291Val) c.1320C>T n.1533C>T c.8073C>T (n.8073C>T) c.922C>T c.7928C>T (p.Ala2643Val) c.7904C>T (p.Ala2635Val) c.7964C>T (p.Ala2655Val) c.7844C>T (p.Ala2615Val) | ClinVar dbSNP |
| 17 | g.31357336_31357337dup | CA2695225546 | NF1 | c.7919_7920dup (p.Ser2641ProfsTer?) c.2501_2502dup (p.Ser835ProfsTer?) c.2093_2094dup (p.Ser699ProfsTer?) n.4582_4583dup c.987_988dup c.7967_7968dup (p.Ser2657ProfsTer?) c.7937_7938dup (p.Ser2647ProfsTer?) c.7874_7875dup (p.Ser2626ProfsTer?) c.6872_6873dup (p.Ser2292ProfsTer?) c.1320_1321dup n.1533_1534dup c.8073_8074dup (n.8073_8074dup) c.922_923dup c.7928_7929dup (p.Ser2644ProfsTer?) c.7904_7905dup (p.Ser2636ProfsTer?) c.7964_7965dup (p.Ser2656ProfsTer?) c.7844_7845dup (p.Ser2616ProfsTer?) | |
| 17 | g.31357337C>A | CA499340862 | NF1 | c.7920C>A (p.Ala2640=) c.2502C>A (p.Ala834=) c.2094C>A (p.Ala698=) n.4583C>A c.988C>A c.7968C>A (p.Ala2656=) c.7938C>A (p.Ala2646=) c.7875C>A (p.Ala2625=) c.6873C>A (p.Ala2291=) c.1321C>A n.1534C>A c.8074C>A (n.8074C>A) c.923C>A c.7929C>A (p.Ala2643=) c.7905C>A (p.Ala2635=) c.7965C>A (p.Ala2655=) c.7845C>A (p.Ala2615=) | |
| 17 | g.31357337C= | CA2255612104 | NF1 | c.7920C= (p.Ala2640=) c.2502C= (p.Ala834=) c.2094C= (p.Ala698=) n.4583C= c.988C= c.7968C= (p.Ala2656=) c.7938C= (p.Ala2646=) c.7875C= (p.Ala2625=) c.6873C= (p.Ala2291=) c.1321C= n.1534C= c.8074C= (n.8074C=) c.923C= c.7929C= (p.Ala2643=) c.7905C= (p.Ala2635=) c.7965C= (p.Ala2655=) c.7845C= (p.Ala2615=) | |
| 17 | g.31357337C>G | CA499340866 | NF1 | c.7920C>G (p.Ala2640=) c.2502C>G (p.Ala834=) c.2094C>G (p.Ala698=) n.4583C>G c.988C>G c.7968C>G (p.Ala2656=) c.7938C>G (p.Ala2646=) c.7875C>G (p.Ala2625=) c.6873C>G (p.Ala2291=) c.1321C>G n.1534C>G c.8074C>G (n.8074C>G) c.923C>G c.7929C>G (p.Ala2643=) c.7905C>G (p.Ala2635=) c.7965C>G (p.Ala2655=) c.7845C>G (p.Ala2615=) | dbSNP |
| 17 | g.31357337C>T | CA499340863 | NF1 | c.7920C>T (p.Ala2640=) c.2502C>T (p.Ala834=) c.2094C>T (p.Ala698=) n.4583C>T c.988C>T c.7968C>T (p.Ala2656=) c.7938C>T (p.Ala2646=) c.7875C>T (p.Ala2625=) c.6873C>T (p.Ala2291=) c.1321C>T n.1534C>T c.8074C>T (n.8074C>T) c.923C>T c.7929C>T (p.Ala2643=) c.7905C>T (p.Ala2635=) c.7965C>T (p.Ala2655=) c.7845C>T (p.Ala2615=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31357338del | CA2739267297 | NF1 | c.7921del (p.Ser2641ValfsTer?) c.2503del (p.Ser835ValfsTer?) c.2095del (p.Ser699ValfsTer?) n.4584del c.989del c.7969del (p.Ser2657ValfsTer?) c.7939del (p.Ser2647ValfsTer?) c.7876del (p.Ser2626ValfsTer?) c.6874del (p.Ser2292ValfsTer?) c.1322del n.1535del c.8075del (n.8075del) c.924del c.7930del (p.Ser2644ValfsTer?) c.7906del (p.Ser2636ValfsTer?) c.7966del (p.Ser2656ValfsTer?) c.7846del (p.Ser2616ValfsTer?) | ClinVar |
| 17 | g.31357338A>C | CA399203501 | NF1 | c.7921A>C (p.Ser2641Arg) c.2503A>C (p.Ser835Arg) c.2095A>C (p.Ser699Arg) n.4584A>C c.989A>C c.7969A>C (p.Ser2657Arg) c.7939A>C (p.Ser2647Arg) c.7876A>C (p.Ser2626Arg) c.6874A>C (p.Ser2292Arg) c.1322A>C n.1535A>C c.8075A>C (n.8075A>C) c.924A>C c.7930A>C (p.Ser2644Arg) c.7906A>C (p.Ser2636Arg) c.7966A>C (p.Ser2656Arg) c.7846A>C (p.Ser2616Arg) | |
| 17 | g.31357338A>G | CA399203502 | NF1 | c.7921A>G (p.Ser2641Gly) c.2503A>G (p.Ser835Gly) c.2095A>G (p.Ser699Gly) n.4584A>G c.989A>G c.7969A>G (p.Ser2657Gly) c.7939A>G (p.Ser2647Gly) c.7876A>G (p.Ser2626Gly) c.6874A>G (p.Ser2292Gly) c.1322A>G n.1535A>G c.8075A>G (n.8075A>G) c.924A>G c.7930A>G (p.Ser2644Gly) c.7906A>G (p.Ser2636Gly) c.7966A>G (p.Ser2656Gly) c.7846A>G (p.Ser2616Gly) | gnomAD v4 |
| 17 | g.31357338A>T | CA399203503 | NF1 | c.7921A>T (p.Ser2641Cys) c.2503A>T (p.Ser835Cys) c.2095A>T (p.Ser699Cys) n.4584A>T c.989A>T c.7969A>T (p.Ser2657Cys) c.7939A>T (p.Ser2647Cys) c.7876A>T (p.Ser2626Cys) c.6874A>T (p.Ser2292Cys) c.1322A>T n.1535A>T c.8075A>T (n.8075A>T) c.924A>T c.7930A>T (p.Ser2644Cys) c.7906A>T (p.Ser2636Cys) c.7966A>T (p.Ser2656Cys) c.7846A>T (p.Ser2616Cys) | dbSNP |
| 17 | g.31357339del | CA891842419 | NF1 | c.7922del (p.Ser2641MetfsTer?) c.2504del (p.Ser835MetfsTer?) c.2096del (p.Ser699MetfsTer?) n.4585del c.990del c.7970del (p.Ser2657MetfsTer?) c.7940del (p.Ser2647MetfsTer?) c.7877del (p.Ser2626MetfsTer?) c.6875del (p.Ser2292MetfsTer?) c.1323del n.1536del c.8076del (n.8076del) c.925del c.7931del (p.Ser2644MetfsTer?) c.7907del (p.Ser2636MetfsTer?) c.7967del (p.Ser2656MetfsTer?) c.7847del (p.Ser2616MetfsTer?) | |
| 17 | g.31357339G>A | CA399203505 | NF1 | c.7922G>A (p.Ser2641Asn) c.2504G>A (p.Ser835Asn) c.2096G>A (p.Ser699Asn) n.4585G>A c.990G>A c.7970G>A (p.Ser2657Asn) c.7940G>A (p.Ser2647Asn) c.7877G>A (p.Ser2626Asn) c.6875G>A (p.Ser2292Asn) c.1323G>A n.1536G>A c.8076G>A (n.8076G>A) c.925G>A c.7931G>A (p.Ser2644Asn) c.7907G>A (p.Ser2636Asn) c.7967G>A (p.Ser2656Asn) c.7847G>A (p.Ser2616Asn) | ClinVar |
| 17 | g.31357339G>C | CA399203506 | NF1 | c.7922G>C (p.Ser2641Thr) c.2504G>C (p.Ser835Thr) c.2096G>C (p.Ser699Thr) n.4585G>C c.990G>C c.7970G>C (p.Ser2657Thr) c.7940G>C (p.Ser2647Thr) c.7877G>C (p.Ser2626Thr) c.6875G>C (p.Ser2292Thr) c.1323G>C n.1536G>C c.8076G>C (n.8076G>C) c.925G>C c.7931G>C (p.Ser2644Thr) c.7907G>C (p.Ser2636Thr) c.7967G>C (p.Ser2656Thr) c.7847G>C (p.Ser2616Thr) | dbSNP |
| 17 | g.31357339G>T | CA399203504 | NF1 | c.7922G>T (p.Ser2641Ile) c.2504G>T (p.Ser835Ile) c.2096G>T (p.Ser699Ile) n.4585G>T c.990G>T c.7970G>T (p.Ser2657Ile) c.7940G>T (p.Ser2647Ile) c.7877G>T (p.Ser2626Ile) c.6875G>T (p.Ser2292Ile) c.1323G>T n.1536G>T c.8076G>T (n.8076G>T) c.925G>T c.7931G>T (p.Ser2644Ile) c.7907G>T (p.Ser2636Ile) c.7967G>T (p.Ser2656Ile) c.7847G>T (p.Ser2616Ile) | gnomAD v4 |
| 17 | g.31357340del | CA2695225547 | NF1 | c.7923del (p.Ser2641ArgfsTer?) c.2505del (p.Ser835ArgfsTer?) c.2097del (p.Ser699ArgfsTer?) n.4586del c.991del c.7971del (p.Ser2657ArgfsTer?) c.7941del (p.Ser2647ArgfsTer?) c.7878del (p.Ser2626ArgfsTer?) c.6876del (p.Ser2292ArgfsTer?) c.1324del n.1537del c.8077del (n.8077del) c.926del c.7932del (p.Ser2644ArgfsTer?) c.7908del (p.Ser2636ArgfsTer?) c.7968del (p.Ser2656ArgfsTer?) c.7848del (p.Ser2616ArgfsTer?) | |
| 17 | g.31357340T>A | CA399203507 | NF1 | c.7923T>A (p.Ser2641Arg) c.2505T>A (p.Ser835Arg) c.2097T>A (p.Ser699Arg) n.4586T>A c.991T>A c.7971T>A (p.Ser2657Arg) c.7941T>A (p.Ser2647Arg) c.7878T>A (p.Ser2626Arg) c.6876T>A (p.Ser2292Arg) c.1324T>A n.1537T>A c.8077T>A (n.8077T>A) c.926T>A c.7932T>A (p.Ser2644Arg) c.7908T>A (p.Ser2636Arg) c.7968T>A (p.Ser2656Arg) c.7848T>A (p.Ser2616Arg) | dbSNP |
| 17 | g.31357340T>C | CA499340880 | NF1 | c.7923T>C (p.Ser2641=) c.2505T>C (p.Ser835=) c.2097T>C (p.Ser699=) n.4586T>C c.991T>C c.7971T>C (p.Ser2657=) c.7941T>C (p.Ser2647=) c.7878T>C (p.Ser2626=) c.6876T>C (p.Ser2292=) c.1324T>C n.1537T>C c.8077T>C (n.8077T>C) c.926T>C c.7932T>C (p.Ser2644=) c.7908T>C (p.Ser2636=) c.7968T>C (p.Ser2656=) c.7848T>C (p.Ser2616=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31357340T>G | CA399203508 | NF1 | c.7923T>G (p.Ser2641Arg) c.2505T>G (p.Ser835Arg) c.2097T>G (p.Ser699Arg) n.4586T>G c.991T>G c.7971T>G (p.Ser2657Arg) c.7941T>G (p.Ser2647Arg) c.7878T>G (p.Ser2626Arg) c.6876T>G (p.Ser2292Arg) c.1324T>G n.1537T>G c.8077T>G (n.8077T>G) c.926T>G c.7932T>G (p.Ser2644Arg) c.7908T>G (p.Ser2636Arg) c.7968T>G (p.Ser2656Arg) c.7848T>G (p.Ser2616Arg) | |
| 17 | g.31357341G>A | CA399203509 | NF1 | c.7924G>A (p.Val2642Ile) c.2506G>A (p.Val836Ile) c.2098G>A (p.Val700Ile) n.4587G>A c.992G>A c.7972G>A (p.Val2658Ile) c.7942G>A (p.Val2648Ile) c.7879G>A (p.Val2627Ile) c.6877G>A (p.Val2293Ile) c.1325G>A n.1538G>A c.8078G>A (n.8078G>A) c.927G>A c.7933G>A (p.Val2645Ile) c.7909G>A (p.Val2637Ile) c.7969G>A (p.Val2657Ile) c.7849G>A (p.Val2617Ile) | gnomAD v4 |
| 17 | g.31357341G>C | CA399203510 | NF1 | c.7924G>C (p.Val2642Leu) c.2506G>C (p.Val836Leu) c.2098G>C (p.Val700Leu) n.4587G>C c.992G>C c.7972G>C (p.Val2658Leu) c.7942G>C (p.Val2648Leu) c.7879G>C (p.Val2627Leu) c.6877G>C (p.Val2293Leu) c.1325G>C n.1538G>C c.8078G>C (n.8078G>C) c.927G>C c.7933G>C (p.Val2645Leu) c.7909G>C (p.Val2637Leu) c.7969G>C (p.Val2657Leu) c.7849G>C (p.Val2617Leu) | dbSNP |
| 17 | g.31357341G>T | CA399203511 | NF1 | c.7924G>T (p.Val2642Phe) c.2506G>T (p.Val836Phe) c.2098G>T (p.Val700Phe) n.4587G>T c.992G>T c.7972G>T (p.Val2658Phe) c.7942G>T (p.Val2648Phe) c.7879G>T (p.Val2627Phe) c.6877G>T (p.Val2293Phe) c.1325G>T n.1538G>T c.8078G>T (n.8078G>T) c.927G>T c.7933G>T (p.Val2645Phe) c.7909G>T (p.Val2637Phe) c.7969G>T (p.Val2657Phe) c.7849G>T (p.Val2617Phe) | |
| 17 | g.31357342T>A | CA399203514 | NF1 | c.7925T>A (p.Val2642Asp) c.2507T>A (p.Val836Asp) c.2099T>A (p.Val700Asp) n.4588T>A c.993T>A c.7973T>A (p.Val2658Asp) c.7943T>A (p.Val2648Asp) c.7880T>A (p.Val2627Asp) c.6878T>A (p.Val2293Asp) c.1326T>A n.1539T>A c.8079T>A (n.8079T>A) c.928T>A c.7934T>A (p.Val2645Asp) c.7910T>A (p.Val2637Asp) c.7970T>A (p.Val2657Asp) c.7850T>A (p.Val2617Asp) | dbSNP |
| 17 | g.31357342T>C | CA399203513 | NF1 | c.7925T>C (p.Val2642Ala) c.2507T>C (p.Val836Ala) c.2099T>C (p.Val700Ala) n.4588T>C c.993T>C c.7973T>C (p.Val2658Ala) c.7943T>C (p.Val2648Ala) c.7880T>C (p.Val2627Ala) c.6878T>C (p.Val2293Ala) c.1326T>C n.1539T>C c.8079T>C (n.8079T>C) c.928T>C c.7934T>C (p.Val2645Ala) c.7910T>C (p.Val2637Ala) c.7970T>C (p.Val2657Ala) c.7850T>C (p.Val2617Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31357342T>G | CA399203512 | NF1 | c.7925T>G (p.Val2642Gly) c.2507T>G (p.Val836Gly) c.2099T>G (p.Val700Gly) n.4588T>G c.993T>G c.7973T>G (p.Val2658Gly) c.7943T>G (p.Val2648Gly) c.7880T>G (p.Val2627Gly) c.6878T>G (p.Val2293Gly) c.1326T>G n.1539T>G c.8079T>G (n.8079T>G) c.928T>G c.7934T>G (p.Val2645Gly) c.7910T>G (p.Val2637Gly) c.7970T>G (p.Val2657Gly) c.7850T>G (p.Val2617Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31357342T= | CA2255612114 | NF1 | c.7925T= (p.Val2642=) c.2507T= (p.Val836=) c.2099T= (p.Val700=) n.4588T= c.993T= c.7973T= (p.Val2658=) c.7943T= (p.Val2648=) c.7880T= (p.Val2627=) c.6878T= (p.Val2293=) c.1326T= n.1539T= c.8079T= (n.8079T=) c.928T= c.7934T= (p.Val2645=) c.7910T= (p.Val2637=) c.7970T= (p.Val2657=) c.7850T= (p.Val2617=) | |
| 17 | g.31357342_31357344delinsTTG | CA2255612116 | NF1 | c.7925_7927delinsTTG (p.Val2642=) c.2507_2509delinsTTG (p.Val836=) c.2099_2101delinsTTG (p.Val700=) n.4588_4590delinsTTG c.993_995delinsTTG c.7973_7975delinsTTG (p.Val2658=) c.7943_7945delinsTTG (p.Val2648=) c.7880_7882delinsTTG (p.Val2627=) c.6878_6880delinsTTG (p.Val2293=) c.1326_1328delinsTTG n.1539_1541delinsTTG c.8079_8081delinsTTG (n.8079_8081delinsTTG) c.928_930delinsTTG c.7934_7936delinsTTG (p.Val2645=) c.7910_7912delinsTTG (p.Val2637=) c.7970_7972delinsTTG (p.Val2657=) c.7850_7852delinsTTG (p.Val2617=) | |
| 17 | g.31357343T>A | CA499340891 | NF1 | c.7926T>A (p.Val2642=) c.2508T>A (p.Val836=) c.2100T>A (p.Val700=) n.4589T>A c.994T>A c.7974T>A (p.Val2658=) c.7944T>A (p.Val2648=) c.7881T>A (p.Val2627=) c.6879T>A (p.Val2293=) c.1327T>A n.1540T>A c.8080T>A (n.8080T>A) c.929T>A c.7935T>A (p.Val2645=) c.7911T>A (p.Val2637=) c.7971T>A (p.Val2657=) c.7851T>A (p.Val2617=) | dbSNP |
| 17 | g.31357343T>C | CA499340893 | NF1 | c.7926T>C (p.Val2642=) c.2508T>C (p.Val836=) c.2100T>C (p.Val700=) n.4589T>C c.994T>C c.7974T>C (p.Val2658=) c.7944T>C (p.Val2648=) c.7881T>C (p.Val2627=) c.6879T>C (p.Val2293=) c.1327T>C n.1540T>C c.8080T>C (n.8080T>C) c.929T>C c.7935T>C (p.Val2645=) c.7911T>C (p.Val2637=) c.7971T>C (p.Val2657=) c.7851T>C (p.Val2617=) | |
| 17 | g.31357343T>G | CA499340895 | NF1 | c.7926T>G (p.Val2642=) c.2508T>G (p.Val836=) c.2100T>G (p.Val700=) n.4589T>G c.994T>G c.7974T>G (p.Val2658=) c.7944T>G (p.Val2648=) c.7881T>G (p.Val2627=) c.6879T>G (p.Val2293=) c.1327T>G n.1540T>G c.8080T>G (n.8080T>G) c.929T>G c.7935T>G (p.Val2645=) c.7911T>G (p.Val2637=) c.7971T>G (p.Val2657=) c.7851T>G (p.Val2617=) | |
| 17 | g.31357346_31357347del | CA916080682 | NF1 | c.7929_7930del (p.Phe2644SerfsTer9) c.2511_2512del (p.Phe838SerfsTer9) c.2103_2104del (p.Phe702SerfsTer9) n.4592_4593del c.997_998del c.7977_7978del (p.Phe2660SerfsTer9) c.7947_7948del (p.Phe2650SerfsTer9) c.7884_7885del (p.Phe2629SerfsTer9) c.6882_6883del (p.Phe2295SerfsTer9) c.1330_1331del n.1543_1544del c.8083_8084del (n.8083_8084del) c.932_933del c.7938_7939del (p.Phe2647SerfsTer9) c.7914_7915del (p.Phe2639SerfsTer9) c.7974_7975del (p.Phe2659SerfsTer9) c.7854_7855del (p.Phe2619SerfsTer9) | ClinVar dbSNP |