UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31226907_31229806del | CA10602510 | NF1 | c.2296+223_2896-29del c.2281+223_2881-29del c.2251+223_2851-29del c.1249+223_1849-29del n.418+223_1358del c.2026+223_2626-29del c.2353+223_2953-29del c.2242+223_2842-29del c.2278+223_2878-29del | |
| 17 | g.31228914_31229530delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT | CA2255564286 | NF1 | c.2455-111_2895+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2440-111_2880+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2410-111_2850+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.1408-111_1848+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT n.577-111_1082delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2185-111_2625+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2512-111_2952+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2401-111_2841+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT c.2437-111_2877+65delinsTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT | |
| 17 | g.31228915_31229530delinsAAAA | CA277589 | NF1 | c.2455-110_2895+65delinsAAAA c.2440-110_2880+65delinsAAAA c.2410-110_2850+65delinsAAAA c.1408-110_1848+65delinsAAAA n.577-110_1082delinsAAAA c.2185-110_2625+65delinsAAAA c.2512-110_2952+65delinsAAAA c.2401-110_2841+65delinsAAAA c.2437-110_2877+65delinsAAAA | ClinVar dbSNP |
| 17 | g.31229209del | CA2739267357 | NF1 | c.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 |
| 17 | g.31229208C>A | CA398984410 | NF1 | c.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 |
| 17 | g.31229208C>G | CA398984412 | NF1 | c.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 |
| 17 | g.31229208C>T | CA398984414 | NF1 | c.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 |
| 17 | g.31229209C>A | CA398984415 | NF1 | c.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) | |
| 17 | g.31229209C= | CA2255565206 | NF1 | c.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=) | |
| 17 | g.31229209C>G | CA398984416 | NF1 | c.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) | |
| 17 | g.31229209C>T | CA195318 | NF1 | c.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 |
| 17 | g.31229210A= | CA2255565211 | NF1 | c.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=) | |
| 17 | g.31229210A>C | CA499444404 | NF1 | c.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=) | |
| 17 | g.31229210A>G | CA499444406 | NF1 | c.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=) | |
| 17 | g.31229210A>T | CA499444408 | NF1 | c.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=) | |
| 17 | g.31229211C>A | CA398984422 | NF1 | c.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 |
| 17 | g.31229211C= | CA2255565215 | NF1 | c.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=) | |
| 17 | g.31229211C>G | CA398984421 | NF1 | c.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 |
| 17 | g.31229211C>T | CA398984419 | NF1 | c.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 |
| 17 | g.31229213del | CA2580093317 | NF1 | c.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 |
| 17 | g.31229211_31229215dup | CA916080618 | NF1 | c.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 |
| 17 | g.31229212C>A | CA398984424 | NF1 | c.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 |
| 17 | g.31229212C= | CA2255565220 | NF1 | c.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=) | |
| 17 | g.31229212C>G | CA398984425 | NF1 | c.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 |
| 17 | g.31229212C>T | CA8486003 | NF1 | c.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 |
| 17 | g.31229213C>A | CA499444412 | NF1 | c.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 |
| 17 | g.31229213C>G | CA499444414 | NF1 | c.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 |
| 17 | g.31229213C>T | CA499444416 | NF1 | c.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 |
| 17 | g.31229214A= | CA2255565225 | NF1 | c.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=) | |
| 17 | g.31229214A>C | CA398984428 | NF1 | c.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) | |
| 17 | g.31229214A>G | CA348994 | NF1 | c.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 |
| 17 | g.31229214A>T | CA398984429 | NF1 | c.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 |
| 17 | g.31229214_31229215dup | CA2695201286 | NF1 | c.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 |
| 17 | g.31229215T>A | CA398984431 | NF1 | c.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) | |
| 17 | g.31229215T>C | CA398984433 | NF1 | c.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) | |
| 17 | g.31229215T>G | CA398984434 | NF1 | c.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) | |
| 17 | g.31229216G>A | CA398984436 | NF1 | c.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 |
| 17 | g.31229216G>C | CA398984438 | NF1 | c.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 |
| 17 | g.31229216G>T | CA398984439 | NF1 | c.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 |
| 17 | g.31229217G>A | CA398984441 | NF1 | c.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 |
| 17 | g.31229217G>C | CA398984444 | NF1 | c.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 |
| 17 | g.31229217G>T | CA398984442 | NF1 | c.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 |
| 17 | g.31229218G>A | CA398984446 | NF1 | c.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 |
| 17 | g.31229218G>C | CA398984449 | NF1 | c.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 |
| 17 | g.31229218G= | CA2255565231 | NF1 | c.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=) | |
| 17 | g.31229218G>T | CA398984447 | NF1 | c.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 |
| 17 | g.31229219del | CA2695225379 | NF1 | c.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) | |
| 17 | g.31229219T>A | CA499444425 | NF1 | c.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=) | |
| 17 | g.31229219T>C | CA499444426 | NF1 | c.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=) | |
| 17 | g.31229219T>G | CA499444427 | NF1 | c.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 |