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.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.31229202_31229205dup | CA2695225378 | NF1 | c.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) | |
| 17 | g.31229203_31229207delinsATAGC | CA2255565179 | NF1 | c.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=) | |
| 17 | g.31229204T>A | CA398984392 | NF1 | c.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 |
| 17 | g.31229204T>C | CA499444389 | NF1 | c.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 |
| 17 | g.31229204T>G | CA169728 | NF1 | c.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 |
| 17 | g.31229204T= | CA2255565192 | NF1 | c.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=) | |
| 17 | g.31229204_31229207del | CA10580259 | NF1 | c.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 |
| 17 | g.31229205A>C | CA398984396 | NF1 | c.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 |
| 17 | g.31229205A>G | CA398984398 | NF1 | c.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 |
| 17 | g.31229205A>T | CA398984397 | NF1 | c.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 |
| 17 | g.31229206G>A | CA398984400 | NF1 | c.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) | |
| 17 | g.31229206G>C | CA398984402 | NF1 | c.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) | |
| 17 | g.31229206G>T | CA398984404 | NF1 | c.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) | |
| 17 | g.31229207C>A | CA398984406 | NF1 | c.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 |
| 17 | g.31229207C= | CA2255565201 | NF1 | c.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=) | |
| 17 | g.31229207C>G | CA398984408 | NF1 | c.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 |
| 17 | g.31229207C>T | CA8486002 | NF1 | c.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 |
| 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 |