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.31229296_31229320del | CA2733614497 | NF1 | c.2726_2750del (p.Phe909TrpfsTer22) c.26_50del (p.Phe9TrpfsTer22) c.2711_2735del (p.Phe904TrpfsTer22) c.2681_2705del (p.Phe894TrpfsTer22) c.1679_1703del (p.Phe560TrpfsTer22) n.848_872del c.2456_2480del c.2783_2807del (p.Phe928TrpfsTer22) c.2672_2696del (p.Phe891TrpfsTer22) c.2708_2732del (p.Phe903TrpfsTer22) | dbSNP |
| 17 | g.31229307_31229310delinsCTGT | CA2255565538 | NF1 | c.2737_2740delinsCTGT (p.Leu913=) c.37_40delinsCTGT (p.Leu13=) c.2722_2725delinsCTGT (p.Leu908=) c.2692_2695delinsCTGT (p.Leu898=) c.1690_1693delinsCTGT (p.Leu564=) n.859_862delinsCTGT c.2467_2470delinsCTGT c.2794_2797delinsCTGT (p.Leu932=) c.2683_2686delinsCTGT (p.Leu895=) c.2719_2722delinsCTGT (p.Leu907=) | |
| 17 | g.31229308T>A | CA398984989 | NF1 | c.2738T>A (p.Leu913Gln) c.38T>A (p.Leu13Gln) c.2723T>A (p.Leu908Gln) c.2693T>A (p.Leu898Gln) c.1691T>A (p.Leu564Gln) n.860T>A c.2468T>A c.2795T>A (p.Leu932Gln) c.2684T>A (p.Leu895Gln) c.2720T>A (p.Leu907Gln) | ClinVar dbSNP |
| 17 | g.31229308T>C | CA165101 | NF1 | c.2738T>C (p.Leu913Pro) c.38T>C (p.Leu13Pro) c.2723T>C (p.Leu908Pro) c.2693T>C (p.Leu898Pro) c.1691T>C (p.Leu564Pro) n.860T>C c.2468T>C c.2795T>C (p.Leu932Pro) c.2684T>C (p.Leu895Pro) c.2720T>C (p.Leu907Pro) | ClinVar dbSNP |
| 17 | g.31229308T>G | CA398984992 | NF1 | c.2738T>G (p.Leu913Arg) c.38T>G (p.Leu13Arg) c.2723T>G (p.Leu908Arg) c.2693T>G (p.Leu898Arg) c.1691T>G (p.Leu564Arg) n.860T>G c.2468T>G c.2795T>G (p.Leu932Arg) c.2684T>G (p.Leu895Arg) c.2720T>G (p.Leu907Arg) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31229308T= | CA2255565555 | NF1 | c.2738T= (p.Leu913=) c.38T= (p.Leu13=) c.2723T= (p.Leu908=) c.2693T= (p.Leu898=) c.1691T= (p.Leu564=) n.860T= c.2468T= c.2795T= (p.Leu932=) c.2684T= (p.Leu895=) c.2720T= (p.Leu907=) | |
| 17 | g.31229311_31229313del | CA16620362 | NF1 | c.2741_2743del (p.Leu914del) c.41_43del (p.Leu14del) c.2726_2728del (p.Leu909del) c.2696_2698del (p.Leu899del) c.1694_1696del (p.Leu565del) n.863_865del c.2471_2473del c.2798_2800del (p.Leu933del) c.2687_2689del (p.Leu896del) c.2723_2725del (p.Leu908del) | ClinVar dbSNP |
| 17 | g.31229309G>A | CA499228193 | NF1 | c.2739G>A (p.Leu913=) c.39G>A (p.Leu13=) c.2724G>A (p.Leu908=) c.2694G>A (p.Leu898=) c.1692G>A (p.Leu564=) n.861G>A c.2469G>A c.2796G>A (p.Leu932=) c.2685G>A (p.Leu895=) c.2721G>A (p.Leu907=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31229309G>C | CA16615186 | NF1 | c.2739G>C (p.Leu913=) c.39G>C (p.Leu13=) c.2724G>C (p.Leu908=) c.2694G>C (p.Leu898=) c.1692G>C (p.Leu564=) n.861G>C c.2469G>C c.2796G>C (p.Leu932=) c.2685G>C (p.Leu895=) c.2721G>C (p.Leu907=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31229309G= | CA2255565565 | NF1 | c.2739G= (p.Leu913=) c.39G= (p.Leu13=) c.2724G= (p.Leu908=) c.2694G= (p.Leu898=) c.1692G= (p.Leu564=) n.861G= c.2469G= c.2796G= (p.Leu932=) c.2685G= (p.Leu895=) c.2721G= (p.Leu907=) | |
| 17 | g.31229309G>T | CA499228197 | NF1 | c.2739G>T (p.Leu913=) c.39G>T (p.Leu13=) c.2724G>T (p.Leu908=) c.2694G>T (p.Leu898=) c.1692G>T (p.Leu564=) n.861G>T c.2469G>T c.2796G>T (p.Leu932=) c.2685G>T (p.Leu895=) c.2721G>T (p.Leu907=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31229309_31229310insGGGG | CA289336262 | NF1 | c.2739_2740insGGGG (p.Leu914GlyfsTer8) c.39_40insGGGG (p.Leu14GlyfsTer8) c.2724_2725insGGGG (p.Leu909GlyfsTer8) c.2694_2695insGGGG (p.Leu899GlyfsTer8) c.1692_1693insGGGG (p.Leu565GlyfsTer8) n.861_862insGGGG c.2469_2470insGGGG c.2796_2797insGGGG (p.Leu933GlyfsTer8) c.2685_2686insGGGG (p.Leu896GlyfsTer8) c.2721_2722insGGGG (p.Leu908GlyfsTer8) | dbSNP |
| 17 | g.31229309_31229310insAC | CA2570627242 | NF1 | c.2739_2740insAC (p.Leu914ThrfsTer4) c.39_40insAC (p.Leu14ThrfsTer4) c.2724_2725insAC (p.Leu909ThrfsTer4) c.2694_2695insAC (p.Leu899ThrfsTer4) c.1692_1693insAC (p.Leu565ThrfsTer4) n.861_862insAC c.2469_2470insAC c.2796_2797insAC (p.Leu933ThrfsTer4) c.2685_2686insAC (p.Leu896ThrfsTer4) c.2721_2722insAC (p.Leu908ThrfsTer4) | |
| 17 | g.31229310T>A | CA398984997 | NF1 | c.2740T>A (p.Leu914Met) c.40T>A (p.Leu14Met) c.2725T>A (p.Leu909Met) c.2695T>A (p.Leu899Met) c.1693T>A (p.Leu565Met) n.862T>A c.2470T>A c.2797T>A (p.Leu933Met) c.2686T>A (p.Leu896Met) c.2722T>A (p.Leu908Met) | dbSNP |
| 17 | g.31229310T>C | CA499228202 | NF1 | c.2740T>C (p.Leu914=) c.40T>C (p.Leu14=) c.2725T>C (p.Leu909=) c.2695T>C (p.Leu899=) c.1693T>C (p.Leu565=) n.862T>C c.2470T>C c.2797T>C (p.Leu933=) c.2686T>C (p.Leu896=) c.2722T>C (p.Leu908=) | dbSNP |
| 17 | g.31229310T>G | CA8486017 | NF1 | c.2740T>G (p.Leu914Val) c.40T>G (p.Leu14Val) c.2725T>G (p.Leu909Val) c.2695T>G (p.Leu899Val) c.1693T>G (p.Leu565Val) n.862T>G c.2470T>G c.2797T>G (p.Leu933Val) c.2686T>G (p.Leu896Val) c.2722T>G (p.Leu908Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31229310T= | CA2255565574 | NF1 | c.2740T= (p.Leu914=) c.40T= (p.Leu14=) c.2725T= (p.Leu909=) c.2695T= (p.Leu899=) c.1693T= (p.Leu565=) n.862T= c.2470T= c.2797T= (p.Leu933=) c.2686T= (p.Leu896=) c.2722T= (p.Leu908=) | |
| 17 | g.31229310_31229353dup | CA915949804 | NF1 | c.2740_2783dup (p.Arg929CysfsTer3) c.40_83dup (p.Arg29CysfsTer3) c.2725_2768dup (p.Arg924CysfsTer3) c.2695_2738dup (p.Arg914CysfsTer3) c.1693_1736dup (p.Arg580CysfsTer3) n.862_905dup c.2470_2513dup c.2797_2840dup (p.Arg948CysfsTer3) c.2686_2729dup (p.Arg911CysfsTer3) c.2722_2765dup (p.Arg923CysfsTer3) | ClinVar dbSNP |
| 17 | g.31229310_31229311insC | CA2525348388 | NF1 | c.2740_2741insC (p.Leu914SerfsTer7) c.40_41insC (p.Leu14SerfsTer7) c.2725_2726insC (p.Leu909SerfsTer7) c.2695_2696insC (p.Leu899SerfsTer7) c.1693_1694insC (p.Leu565SerfsTer7) n.862_863insC c.2470_2471insC c.2797_2798insC (p.Leu933SerfsTer7) c.2686_2687insC (p.Leu896SerfsTer7) c.2722_2723insC (p.Leu908SerfsTer7) | |
| 17 | g.31229311T>A | CA398985000 | NF1 | c.2741T>A (p.Leu914Ter) c.41T>A (p.Leu14Ter) c.2726T>A (p.Leu909Ter) c.2696T>A (p.Leu899Ter) c.1694T>A (p.Leu565Ter) n.863T>A c.2471T>A c.2798T>A (p.Leu933Ter) c.2687T>A (p.Leu896Ter) c.2723T>A (p.Leu908Ter) | dbSNP |
| 17 | g.31229311T>C | CA398985002 | NF1 | c.2741T>C (p.Leu914Ser) c.41T>C (p.Leu14Ser) c.2726T>C (p.Leu909Ser) c.2696T>C (p.Leu899Ser) c.1694T>C (p.Leu565Ser) n.863T>C c.2471T>C c.2798T>C (p.Leu933Ser) c.2687T>C (p.Leu896Ser) c.2723T>C (p.Leu908Ser) | |
| 17 | g.31229311T>G | CA398985003 | NF1 | c.2741T>G (p.Leu914Trp) c.41T>G (p.Leu14Trp) c.2726T>G (p.Leu909Trp) c.2696T>G (p.Leu899Trp) c.1694T>G (p.Leu565Trp) n.863T>G c.2471T>G c.2798T>G (p.Leu933Trp) c.2687T>G (p.Leu896Trp) c.2723T>G (p.Leu908Trp) | |
| 17 | g.31229312G>A | CA499228221 | NF1 | c.2742G>A (p.Leu914=) c.42G>A (p.Leu14=) c.2727G>A (p.Leu909=) c.2697G>A (p.Leu899=) c.1695G>A (p.Leu565=) n.864G>A c.2472G>A c.2799G>A (p.Leu933=) c.2688G>A (p.Leu896=) c.2724G>A (p.Leu908=) | dbSNP |
| 17 | g.31229312G>C | CA398985005 | NF1 | c.2742G>C (p.Leu914Phe) c.42G>C (p.Leu14Phe) c.2727G>C (p.Leu909Phe) c.2697G>C (p.Leu899Phe) c.1695G>C (p.Leu565Phe) n.864G>C c.2472G>C c.2799G>C (p.Leu933Phe) c.2688G>C (p.Leu896Phe) c.2724G>C (p.Leu908Phe) | dbSNP |
| 17 | g.31229312G>T | CA398985008 | NF1 | c.2742G>T (p.Leu914Phe) c.42G>T (p.Leu14Phe) c.2727G>T (p.Leu909Phe) c.2697G>T (p.Leu899Phe) c.1695G>T (p.Leu565Phe) n.864G>T c.2472G>T c.2799G>T (p.Leu933Phe) c.2688G>T (p.Leu896Phe) c.2724G>T (p.Leu908Phe) | |
| 17 | g.31229312_31229314del | CA2637082454 | NF1 | c.2742_2744del (p.Leu914_Ser915delinsPhe) c.42_44del (p.Leu14_Ser15delinsPhe) c.2727_2729del (p.Leu909_Ser910delinsPhe) c.2697_2699del (p.Leu899_Ser900delinsPhe) c.1695_1697del (p.Leu565_Ser566delinsPhe) n.864_866del c.2472_2474del c.2799_2801del (p.Leu933_Ser934delinsPhe) c.2688_2690del (p.Leu896_Ser897delinsPhe) c.2724_2726del (p.Leu908_Ser909delinsPhe) | gnomAD v4 |
| 17 | g.31229313T>A | CA398985012 | NF1 | c.2743T>A (p.Ser915Thr) c.43T>A (p.Ser15Thr) c.2728T>A (p.Ser910Thr) c.2698T>A (p.Ser900Thr) c.1696T>A (p.Ser566Thr) n.865T>A c.2473T>A c.2800T>A (p.Ser934Thr) c.2689T>A (p.Ser897Thr) c.2725T>A (p.Ser909Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31229313T>C | CA398985013 | NF1 | c.2743T>C (p.Ser915Pro) c.43T>C (p.Ser15Pro) c.2728T>C (p.Ser910Pro) c.2698T>C (p.Ser900Pro) c.1696T>C (p.Ser566Pro) n.865T>C c.2473T>C c.2800T>C (p.Ser934Pro) c.2689T>C (p.Ser897Pro) c.2725T>C (p.Ser909Pro) | dbSNP |
| 17 | g.31229313T>G | CA398985016 | NF1 | c.2743T>G (p.Ser915Ala) c.43T>G (p.Ser15Ala) c.2728T>G (p.Ser910Ala) c.2698T>G (p.Ser900Ala) c.1696T>G (p.Ser566Ala) n.865T>G c.2473T>G c.2800T>G (p.Ser934Ala) c.2689T>G (p.Ser897Ala) c.2725T>G (p.Ser909Ala) | |
| 17 | g.31229313_31229318del | CA2504844856 | NF1 | c.2743_2748del (p.Ser915_Leu916del) c.43_48del (p.Ser15_Leu16del) c.2728_2733del (p.Ser910_Leu911del) c.2698_2703del (p.Ser900_Leu901del) c.1696_1701del (p.Ser566_Leu567del) n.865_870del c.2473_2478del c.2800_2805del (p.Ser934_Leu935del) c.2689_2694del (p.Ser897_Leu898del) c.2725_2730del (p.Ser909_Leu910del) | |
| 17 | g.31229314C>A | CA398985019 | NF1 | c.2744C>A (p.Ser915Tyr) c.44C>A (p.Ser15Tyr) c.2729C>A (p.Ser910Tyr) c.2699C>A (p.Ser900Tyr) c.1697C>A (p.Ser566Tyr) n.866C>A c.2474C>A c.2801C>A (p.Ser934Tyr) c.2690C>A (p.Ser897Tyr) c.2726C>A (p.Ser909Tyr) | dbSNP |
| 17 | g.31229314C>G | CA398985021 | NF1 | c.2744C>G (p.Ser915Cys) c.44C>G (p.Ser15Cys) c.2729C>G (p.Ser910Cys) c.2699C>G (p.Ser900Cys) c.1697C>G (p.Ser566Cys) n.866C>G c.2474C>G c.2801C>G (p.Ser934Cys) c.2690C>G (p.Ser897Cys) c.2726C>G (p.Ser909Cys) | |
| 17 | g.31229314C>T | CA398985023 | NF1 | c.2744C>T (p.Ser915Phe) c.44C>T (p.Ser15Phe) c.2729C>T (p.Ser910Phe) c.2699C>T (p.Ser900Phe) c.1697C>T (p.Ser566Phe) n.866C>T c.2474C>T c.2801C>T (p.Ser934Phe) c.2690C>T (p.Ser897Phe) c.2726C>T (p.Ser909Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31229315dup | CA2573153311 | NF1 | c.2745dup (p.Met917AsnfsTer4) c.45dup (p.Met17AsnfsTer4) c.2730dup (p.Met912AsnfsTer4) c.2700dup (p.Met902AsnfsTer4) c.1698dup (p.Met568AsnfsTer4) n.867dup c.2475dup c.2802dup (p.Met936AsnfsTer4) c.2691dup (p.Met899AsnfsTer4) c.2727dup (p.Met911AsnfsTer4) | ClinVar dbSNP |
| 17 | g.31229315C>A | CA499228250 | NF1 | c.2745C>A (p.Ser915=) c.45C>A (p.Ser15=) c.2730C>A (p.Ser910=) c.2700C>A (p.Ser900=) c.1698C>A (p.Ser566=) n.867C>A c.2475C>A c.2802C>A (p.Ser934=) c.2691C>A (p.Ser897=) c.2727C>A (p.Ser909=) | ClinVar dbSNP |
| 17 | g.31229315C>G | CA499228251 | NF1 | c.2745C>G (p.Ser915=) c.45C>G (p.Ser15=) c.2730C>G (p.Ser910=) c.2700C>G (p.Ser900=) c.1698C>G (p.Ser566=) n.867C>G c.2475C>G c.2802C>G (p.Ser934=) c.2691C>G (p.Ser897=) c.2727C>G (p.Ser909=) | gnomAD v4 COSMIC COSMIC |
| 17 | g.31229315C>T | CA499228253 | NF1 | c.2745C>T (p.Ser915=) c.45C>T (p.Ser15=) c.2730C>T (p.Ser910=) c.2700C>T (p.Ser900=) c.1698C>T (p.Ser566=) n.867C>T c.2475C>T c.2802C>T (p.Ser934=) c.2691C>T (p.Ser897=) c.2727C>T (p.Ser909=) | ClinVar |
| 17 | g.31229316T>A | CA398985026 | NF1 | c.2746T>A (p.Leu916Ile) c.46T>A (p.Leu16Ile) c.2731T>A (p.Leu911Ile) c.2701T>A (p.Leu901Ile) c.1699T>A (p.Leu567Ile) n.868T>A c.2476T>A c.2803T>A (p.Leu935Ile) c.2692T>A (p.Leu898Ile) c.2728T>A (p.Leu910Ile) | dbSNP |
| 17 | g.31229316T>C | CA499228258 | NF1 | c.2746T>C (p.Leu916=) c.46T>C (p.Leu16=) c.2731T>C (p.Leu911=) c.2701T>C (p.Leu901=) c.1699T>C (p.Leu567=) n.868T>C c.2476T>C c.2803T>C (p.Leu935=) c.2692T>C (p.Leu898=) c.2728T>C (p.Leu910=) | dbSNP |
| 17 | g.31229316T>G | CA398985028 | NF1 | c.2746T>G (p.Leu916Val) c.46T>G (p.Leu16Val) c.2731T>G (p.Leu911Val) c.2701T>G (p.Leu901Val) c.1699T>G (p.Leu567Val) n.868T>G c.2476T>G c.2803T>G (p.Leu935Val) c.2692T>G (p.Leu898Val) c.2728T>G (p.Leu910Val) | |
| 17 | g.31229317del | CA2580093356 | NF1 | c.2747del (p.Leu916Ter) c.47del (p.Leu16Ter) c.2732del (p.Leu911Ter) c.2702del (p.Leu901Ter) c.1700del (p.Leu567Ter) n.869del c.2477del c.2804del (p.Leu935Ter) c.2693del (p.Leu898Ter) c.2729del (p.Leu910Ter) | ClinVar |
| 17 | g.31229317T>A | CA398985035 | NF1 | c.2747T>A (p.Leu916Ter) c.47T>A (p.Leu16Ter) c.2732T>A (p.Leu911Ter) c.2702T>A (p.Leu901Ter) c.1700T>A (p.Leu567Ter) n.869T>A c.2477T>A c.2804T>A (p.Leu935Ter) c.2693T>A (p.Leu898Ter) c.2729T>A (p.Leu910Ter) | |
| 17 | g.31229317T>C | CA398985032 | NF1 | c.2747T>C (p.Leu916Ser) c.47T>C (p.Leu16Ser) c.2732T>C (p.Leu911Ser) c.2702T>C (p.Leu901Ser) c.1700T>C (p.Leu567Ser) n.869T>C c.2477T>C c.2804T>C (p.Leu935Ser) c.2693T>C (p.Leu898Ser) c.2729T>C (p.Leu910Ser) | |
| 17 | g.31229317T>G | CA398985031 | NF1 | c.2747T>G (p.Leu916Ter) c.47T>G (p.Leu16Ter) c.2732T>G (p.Leu911Ter) c.2702T>G (p.Leu901Ter) c.1700T>G (p.Leu567Ter) n.869T>G c.2477T>G c.2804T>G (p.Leu935Ter) c.2693T>G (p.Leu898Ter) c.2729T>G (p.Leu910Ter) | ClinVar dbSNP |
| 17 | g.31229317T= | CA2255565578 | NF1 | c.2747T= (p.Leu916=) c.47T= (p.Leu16=) c.2732T= (p.Leu911=) c.2702T= (p.Leu901=) c.1700T= (p.Leu567=) n.869T= c.2477T= c.2804T= (p.Leu935=) c.2693T= (p.Leu898=) c.2729T= (p.Leu910=) | |
| 17 | g.31229317_31229318insGTCG | CA645571280 | NF1 | c.2747_2748insGTCG (p.Met917SerfsTer5) c.47_48insGTCG (p.Met17SerfsTer5) c.2732_2733insGTCG (p.Met912SerfsTer5) c.2702_2703insGTCG (p.Met902SerfsTer5) c.1700_1701insGTCG (p.Met568SerfsTer5) n.869_870insGTCG c.2477_2478insGTCG c.2804_2805insGTCG (p.Met936SerfsTer5) c.2693_2694insGTCG (p.Met899SerfsTer5) c.2729_2730insGTCG (p.Met911SerfsTer5) | COSMIC COSMIC |
| 17 | g.31229318A>C | CA398985038 | NF1 | c.2748A>C (p.Leu916Phe) c.48A>C (p.Leu16Phe) c.2733A>C (p.Leu911Phe) c.2703A>C (p.Leu901Phe) c.1701A>C (p.Leu567Phe) n.870A>C c.2478A>C c.2805A>C (p.Leu935Phe) c.2694A>C (p.Leu898Phe) c.2730A>C (p.Leu910Phe) | dbSNP COSMIC COSMIC |