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.31349634_31357324del | CA277574 | NF1 | c.7303+383_7907del c.1885+383_2489del c.1477+383_2081del n.3966+383_4570del c.371+383_975del c.7351+383_7955del c.7321+383_7925del c.7258+383_7862del c.6256+383_6860del c.704+383_1308del c.7457+383_8061del c.464+383_910del c.7312+383_7916del c.7288+383_7892del c.7348+383_7952del c.7351+383_7832del | ClinVar |
| 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.31357019G>A | CA399018494 | NF1 | c.7780G>A (p.Glu2594Lys) c.2362G>A (p.Glu788Lys) c.1954G>A (p.Glu652Lys) n.4443G>A c.848G>A c.7828G>A (p.Glu2610Lys) c.7798G>A (p.Glu2600Lys) c.7735G>A (p.Glu2579Lys) c.6733G>A (p.Glu2245Lys) c.1181G>A n.1216G>A c.7934G>A (n.7934G>A) c.783G>A c.7789G>A (p.Glu2597Lys) c.7765G>A (p.Glu2589Lys) c.7825G>A (p.Glu2609Lys) c.7705G>A (p.Glu2569Lys) | dbSNP |
| 17 | g.31357019G>C | CA399018496 | NF1 | c.7780G>C (p.Glu2594Gln) c.2362G>C (p.Glu788Gln) c.1954G>C (p.Glu652Gln) n.4443G>C c.848G>C c.7828G>C (p.Glu2610Gln) c.7798G>C (p.Glu2600Gln) c.7735G>C (p.Glu2579Gln) c.6733G>C (p.Glu2245Gln) c.1181G>C n.1216G>C c.7934G>C (n.7934G>C) c.783G>C c.7789G>C (p.Glu2597Gln) c.7765G>C (p.Glu2589Gln) c.7825G>C (p.Glu2609Gln) c.7705G>C (p.Glu2569Gln) | dbSNP COSMIC COSMIC COSMIC |
| 17 | g.31357019G>T | CA399018498 | NF1 | c.7780G>T (p.Glu2594Ter) c.2362G>T (p.Glu788Ter) c.1954G>T (p.Glu652Ter) n.4443G>T c.848G>T c.7828G>T (p.Glu2610Ter) c.7798G>T (p.Glu2600Ter) c.7735G>T (p.Glu2579Ter) c.6733G>T (p.Glu2245Ter) c.1181G>T n.1216G>T c.7934G>T (n.7934G>T) c.783G>T c.7789G>T (p.Glu2597Ter) c.7765G>T (p.Glu2589Ter) c.7825G>T (p.Glu2609Ter) c.7705G>T (p.Glu2569Ter) | |
| 17 | g.31357020A>C | CA399018500 | NF1 | c.7781A>C (p.Glu2594Ala) c.2363A>C (p.Glu788Ala) c.1955A>C (p.Glu652Ala) n.4444A>C c.849A>C c.7829A>C (p.Glu2610Ala) c.7799A>C (p.Glu2600Ala) c.7736A>C (p.Glu2579Ala) c.6734A>C (p.Glu2245Ala) c.1182A>C n.1217A>C c.7935A>C (n.7935A>C) c.784A>C c.7790A>C (p.Glu2597Ala) c.7766A>C (p.Glu2589Ala) c.7826A>C (p.Glu2609Ala) c.7706A>C (p.Glu2569Ala) | |
| 17 | g.31357020A>G | CA399018503 | NF1 | c.7781A>G (p.Glu2594Gly) c.2363A>G (p.Glu788Gly) c.1955A>G (p.Glu652Gly) n.4444A>G c.849A>G c.7829A>G (p.Glu2610Gly) c.7799A>G (p.Glu2600Gly) c.7736A>G (p.Glu2579Gly) c.6734A>G (p.Glu2245Gly) c.1182A>G n.1217A>G c.7935A>G (n.7935A>G) c.784A>G c.7790A>G (p.Glu2597Gly) c.7766A>G (p.Glu2589Gly) c.7826A>G (p.Glu2609Gly) c.7706A>G (p.Glu2569Gly) | |
| 17 | g.31357020A>T | CA399018501 | NF1 | c.7781A>T (p.Glu2594Val) c.2363A>T (p.Glu788Val) c.1955A>T (p.Glu652Val) n.4444A>T c.849A>T c.7829A>T (p.Glu2610Val) c.7799A>T (p.Glu2600Val) c.7736A>T (p.Glu2579Val) c.6734A>T (p.Glu2245Val) c.1182A>T n.1217A>T c.7935A>T (n.7935A>T) c.784A>T c.7790A>T (p.Glu2597Val) c.7766A>T (p.Glu2589Val) c.7826A>T (p.Glu2609Val) c.7706A>T (p.Glu2569Val) | dbSNP |
| 17 | g.31357021del | CA2513742195 | NF1 | c.7782del (p.Glu2594AspfsTer24) c.2364del (p.Glu788AspfsTer24) c.1956del (p.Glu652AspfsTer24) n.4445del c.850del c.7830del (p.Glu2610AspfsTer24) c.7800del (p.Glu2600AspfsTer24) c.7737del (p.Glu2579AspfsTer24) c.6735del (p.Glu2245AspfsTer24) c.1183del n.1218del c.7936del (n.7936del) c.785del c.7791del (p.Glu2597AspfsTer24) c.7767del (p.Glu2589AspfsTer24) c.7827del (p.Glu2609AspfsTer24) c.7707del (p.Glu2569AspfsTer24) | |
| 17 | g.31357021A>C | CA399018505 | NF1 | c.7782A>C (p.Glu2594Asp) c.2364A>C (p.Glu788Asp) c.1956A>C (p.Glu652Asp) n.4445A>C c.850A>C c.7830A>C (p.Glu2610Asp) c.7800A>C (p.Glu2600Asp) c.7737A>C (p.Glu2579Asp) c.6735A>C (p.Glu2245Asp) c.1183A>C n.1218A>C c.7936A>C (n.7936A>C) c.785A>C c.7791A>C (p.Glu2597Asp) c.7767A>C (p.Glu2589Asp) c.7827A>C (p.Glu2609Asp) c.7707A>C (p.Glu2569Asp) | |
| 17 | g.31357021A>G | CA499239442 | NF1 | c.7782A>G (p.Glu2594=) c.2364A>G (p.Glu788=) c.1956A>G (p.Glu652=) n.4445A>G c.850A>G c.7830A>G (p.Glu2610=) c.7800A>G (p.Glu2600=) c.7737A>G (p.Glu2579=) c.6735A>G (p.Glu2245=) c.1183A>G n.1218A>G c.7936A>G (n.7936A>G) c.785A>G c.7791A>G (p.Glu2597=) c.7767A>G (p.Glu2589=) c.7827A>G (p.Glu2609=) c.7707A>G (p.Glu2569=) | ClinVar gnomAD v4 |
| 17 | g.31357021A>T | CA399018506 | NF1 | c.7782A>T (p.Glu2594Asp) c.2364A>T (p.Glu788Asp) c.1956A>T (p.Glu652Asp) n.4445A>T c.850A>T c.7830A>T (p.Glu2610Asp) c.7800A>T (p.Glu2600Asp) c.7737A>T (p.Glu2579Asp) c.6735A>T (p.Glu2245Asp) c.1183A>T n.1218A>T c.7936A>T (n.7936A>T) c.785A>T c.7791A>T (p.Glu2597Asp) c.7767A>T (p.Glu2589Asp) c.7827A>T (p.Glu2609Asp) c.7707A>T (p.Glu2569Asp) | dbSNP |
| 17 | g.31357022T>A | CA399018508 | NF1 | c.7783T>A (p.Ser2595Thr) c.2365T>A (p.Ser789Thr) c.1957T>A (p.Ser653Thr) n.4446T>A c.851T>A c.7831T>A (p.Ser2611Thr) c.7801T>A (p.Ser2601Thr) c.7738T>A (p.Ser2580Thr) c.6736T>A (p.Ser2246Thr) c.1184T>A n.1219T>A c.7937T>A (n.7937T>A) c.786T>A c.7792T>A (p.Ser2598Thr) c.7768T>A (p.Ser2590Thr) c.7828T>A (p.Ser2610Thr) c.7708T>A (p.Ser2570Thr) | dbSNP |
| 17 | g.31357022T>C | CA399018509 | NF1 | c.7783T>C (p.Ser2595Pro) c.2365T>C (p.Ser789Pro) c.1957T>C (p.Ser653Pro) n.4446T>C c.851T>C c.7831T>C (p.Ser2611Pro) c.7801T>C (p.Ser2601Pro) c.7738T>C (p.Ser2580Pro) c.6736T>C (p.Ser2246Pro) c.1184T>C n.1219T>C c.7937T>C (n.7937T>C) c.786T>C c.7792T>C (p.Ser2598Pro) c.7768T>C (p.Ser2590Pro) c.7828T>C (p.Ser2610Pro) c.7708T>C (p.Ser2570Pro) | dbSNP |
| 17 | g.31357022T>G | CA399018510 | NF1 | c.7783T>G (p.Ser2595Ala) c.2365T>G (p.Ser789Ala) c.1957T>G (p.Ser653Ala) n.4446T>G c.851T>G c.7831T>G (p.Ser2611Ala) c.7801T>G (p.Ser2601Ala) c.7738T>G (p.Ser2580Ala) c.6736T>G (p.Ser2246Ala) c.1184T>G n.1219T>G c.7937T>G (n.7937T>G) c.786T>G c.7792T>G (p.Ser2598Ala) c.7768T>G (p.Ser2590Ala) c.7828T>G (p.Ser2610Ala) c.7708T>G (p.Ser2570Ala) | dbSNP |
| 17 | g.31357023C>A | CA399018512 | NF1 | c.7784C>A (p.Ser2595Ter) c.2366C>A (p.Ser789Ter) c.1958C>A (p.Ser653Ter) n.4447C>A c.852C>A c.7832C>A (p.Ser2611Ter) c.7802C>A (p.Ser2601Ter) c.7739C>A (p.Ser2580Ter) c.6737C>A (p.Ser2246Ter) c.1185C>A n.1220C>A c.7938C>A (n.7938C>A) c.787C>A c.7793C>A (p.Ser2598Ter) c.7769C>A (p.Ser2590Ter) c.7829C>A (p.Ser2610Ter) c.7709C>A (p.Ser2570Ter) | ClinVar dbSNP |
| 17 | g.31357023C= | CA2255614242 | NF1 | c.7784C= (p.Ser2595=) c.2366C= (p.Ser789=) c.1958C= (p.Ser653=) n.4447C= c.852C= c.7832C= (p.Ser2611=) c.7802C= (p.Ser2601=) c.7739C= (p.Ser2580=) c.6737C= (p.Ser2246=) c.1185C= n.1220C= c.7938C= (n.7938C=) c.787C= c.7793C= (p.Ser2598=) c.7769C= (p.Ser2590=) c.7829C= (p.Ser2610=) c.7709C= (p.Ser2570=) | |
| 17 | g.31357023C>G | CA399018514 | NF1 | c.7784C>G (p.Ser2595Ter) c.2366C>G (p.Ser789Ter) c.1958C>G (p.Ser653Ter) n.4447C>G c.852C>G c.7832C>G (p.Ser2611Ter) c.7802C>G (p.Ser2601Ter) c.7739C>G (p.Ser2580Ter) c.6737C>G (p.Ser2246Ter) c.1185C>G n.1220C>G c.7938C>G (n.7938C>G) c.787C>G c.7793C>G (p.Ser2598Ter) c.7769C>G (p.Ser2590Ter) c.7829C>G (p.Ser2610Ter) c.7709C>G (p.Ser2570Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 17 | g.31357023C>T | CA399018515 | NF1 | c.7784C>T (p.Ser2595Leu) c.2366C>T (p.Ser789Leu) c.1958C>T (p.Ser653Leu) n.4447C>T c.852C>T c.7832C>T (p.Ser2611Leu) c.7802C>T (p.Ser2601Leu) c.7739C>T (p.Ser2580Leu) c.6737C>T (p.Ser2246Leu) c.1185C>T n.1220C>T c.7938C>T (n.7938C>T) c.787C>T c.7793C>T (p.Ser2598Leu) c.7769C>T (p.Ser2590Leu) c.7829C>T (p.Ser2610Leu) c.7709C>T (p.Ser2570Leu) | dbSNP |
| 17 | g.31357024A= | CA2255614247 | NF1 | c.7785A= (p.Ser2595=) c.2367A= (p.Ser789=) c.1959A= (p.Ser653=) n.4448A= c.853A= c.7833A= (p.Ser2611=) c.7803A= (p.Ser2601=) c.7740A= (p.Ser2580=) c.6738A= (p.Ser2246=) c.1186A= n.1221A= c.7939A= (n.7939A=) c.788A= c.7794A= (p.Ser2598=) c.7770A= (p.Ser2590=) c.7830A= (p.Ser2610=) c.7710A= (p.Ser2570=) | |
| 17 | g.31357024A>C | CA499239443 | NF1 | c.7785A>C (p.Ser2595=) c.2367A>C (p.Ser789=) c.1959A>C (p.Ser653=) n.4448A>C c.853A>C c.7833A>C (p.Ser2611=) c.7803A>C (p.Ser2601=) c.7740A>C (p.Ser2580=) c.6738A>C (p.Ser2246=) c.1186A>C n.1221A>C c.7939A>C (n.7939A>C) c.788A>C c.7794A>C (p.Ser2598=) c.7770A>C (p.Ser2590=) c.7830A>C (p.Ser2610=) c.7710A>C (p.Ser2570=) | ClinVar dbSNP |
| 17 | g.31357024A>G | CA499239444 | NF1 | c.7785A>G (p.Ser2595=) c.2367A>G (p.Ser789=) c.1959A>G (p.Ser653=) n.4448A>G c.853A>G c.7833A>G (p.Ser2611=) c.7803A>G (p.Ser2601=) c.7740A>G (p.Ser2580=) c.6738A>G (p.Ser2246=) c.1186A>G n.1221A>G c.7939A>G (n.7939A>G) c.788A>G c.7794A>G (p.Ser2598=) c.7770A>G (p.Ser2590=) c.7830A>G (p.Ser2610=) c.7710A>G (p.Ser2570=) | dbSNP |
| 17 | g.31357024A>T | CA499239445 | NF1 | c.7785A>T (p.Ser2595=) c.2367A>T (p.Ser789=) c.1959A>T (p.Ser653=) n.4448A>T c.853A>T c.7833A>T (p.Ser2611=) c.7803A>T (p.Ser2601=) c.7740A>T (p.Ser2580=) c.6738A>T (p.Ser2246=) c.1186A>T n.1221A>T c.7939A>T (n.7939A>T) c.788A>T c.7794A>T (p.Ser2598=) c.7770A>T (p.Ser2590=) c.7830A>T (p.Ser2610=) c.7710A>T (p.Ser2570=) | dbSNP |
| 17 | g.31357026del | CA2580093451 | NF1 | c.7787del (p.Asn2596MetfsTer22) c.2369del (p.Asn790MetfsTer22) c.1961del (p.Asn654MetfsTer22) n.4450del c.855del c.7835del (p.Asn2612MetfsTer22) c.7805del (p.Asn2602MetfsTer22) c.7742del (p.Asn2581MetfsTer22) c.6740del (p.Asn2247MetfsTer22) c.1188del n.1223del c.7941del (n.7941del) c.790del c.7796del (p.Asn2599MetfsTer22) c.7772del (p.Asn2591MetfsTer22) c.7832del (p.Asn2611MetfsTer22) c.7712del (p.Asn2571MetfsTer22) | ClinVar |
| 17 | g.31357025A= | CA2255614254 | NF1 | c.7786A= (p.Asn2596=) c.2368A= (p.Asn790=) c.1960A= (p.Asn654=) n.4449A= c.854A= c.7834A= (p.Asn2612=) c.7804A= (p.Asn2602=) c.7741A= (p.Asn2581=) c.6739A= (p.Asn2247=) c.1187A= n.1222A= c.7940A= (n.7940A=) c.789A= c.7795A= (p.Asn2599=) c.7771A= (p.Asn2591=) c.7831A= (p.Asn2611=) c.7711A= (p.Asn2571=) | |
| 17 | g.31357025A>C | CA399018516 | NF1 | c.7786A>C (p.Asn2596His) c.2368A>C (p.Asn790His) c.1960A>C (p.Asn654His) n.4449A>C c.854A>C c.7834A>C (p.Asn2612His) c.7804A>C (p.Asn2602His) c.7741A>C (p.Asn2581His) c.6739A>C (p.Asn2247His) c.1187A>C n.1222A>C c.7940A>C (n.7940A>C) c.789A>C c.7795A>C (p.Asn2599His) c.7771A>C (p.Asn2591His) c.7831A>C (p.Asn2611His) c.7711A>C (p.Asn2571His) | |
| 17 | g.31357025A>G | CA10580422 | NF1 | c.7786A>G (p.Asn2596Asp) c.2368A>G (p.Asn790Asp) c.1960A>G (p.Asn654Asp) n.4449A>G c.854A>G c.7834A>G (p.Asn2612Asp) c.7804A>G (p.Asn2602Asp) c.7741A>G (p.Asn2581Asp) c.6739A>G (p.Asn2247Asp) c.1187A>G n.1222A>G c.7940A>G (n.7940A>G) c.789A>G c.7795A>G (p.Asn2599Asp) c.7771A>G (p.Asn2591Asp) c.7831A>G (p.Asn2611Asp) c.7711A>G (p.Asn2571Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31357025A>T | CA399018519 | NF1 | c.7786A>T (p.Asn2596Tyr) c.2368A>T (p.Asn790Tyr) c.1960A>T (p.Asn654Tyr) n.4449A>T c.854A>T c.7834A>T (p.Asn2612Tyr) c.7804A>T (p.Asn2602Tyr) c.7741A>T (p.Asn2581Tyr) c.6739A>T (p.Asn2247Tyr) c.1187A>T n.1222A>T c.7940A>T (n.7940A>T) c.789A>T c.7795A>T (p.Asn2599Tyr) c.7771A>T (p.Asn2591Tyr) c.7831A>T (p.Asn2611Tyr) c.7711A>T (p.Asn2571Tyr) | ClinVar dbSNP |
| 17 | g.31357026A>C | CA399018521 | NF1 | c.7787A>C (p.Asn2596Thr) c.2369A>C (p.Asn790Thr) c.1961A>C (p.Asn654Thr) n.4450A>C c.855A>C c.7835A>C (p.Asn2612Thr) c.7805A>C (p.Asn2602Thr) c.7742A>C (p.Asn2581Thr) c.6740A>C (p.Asn2247Thr) c.1188A>C n.1223A>C c.7941A>C (n.7941A>C) c.790A>C c.7796A>C (p.Asn2599Thr) c.7772A>C (p.Asn2591Thr) c.7832A>C (p.Asn2611Thr) c.7712A>C (p.Asn2571Thr) | dbSNP |
| 17 | g.31357026A>G | CA399018523 | NF1 | c.7787A>G (p.Asn2596Ser) c.2369A>G (p.Asn790Ser) c.1961A>G (p.Asn654Ser) n.4450A>G c.855A>G c.7835A>G (p.Asn2612Ser) c.7805A>G (p.Asn2602Ser) c.7742A>G (p.Asn2581Ser) c.6740A>G (p.Asn2247Ser) c.1188A>G n.1223A>G c.7941A>G (n.7941A>G) c.790A>G c.7796A>G (p.Asn2599Ser) c.7772A>G (p.Asn2591Ser) c.7832A>G (p.Asn2611Ser) c.7712A>G (p.Asn2571Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31357026A>T | CA399018522 | NF1 | c.7787A>T (p.Asn2596Ile) c.2369A>T (p.Asn790Ile) c.1961A>T (p.Asn654Ile) n.4450A>T c.855A>T c.7835A>T (p.Asn2612Ile) c.7805A>T (p.Asn2602Ile) c.7742A>T (p.Asn2581Ile) c.6740A>T (p.Asn2247Ile) c.1188A>T n.1223A>T c.7941A>T (n.7941A>T) c.790A>T c.7796A>T (p.Asn2599Ile) c.7772A>T (p.Asn2591Ile) c.7832A>T (p.Asn2611Ile) c.7712A>T (p.Asn2571Ile) | dbSNP COSMIC COSMIC |
| 17 | g.31357027T>A | CA399018525 | NF1 | c.7788T>A (p.Asn2596Lys) c.2370T>A (p.Asn790Lys) c.1962T>A (p.Asn654Lys) n.4451T>A c.856T>A c.7836T>A (p.Asn2612Lys) c.7806T>A (p.Asn2602Lys) c.7743T>A (p.Asn2581Lys) c.6741T>A (p.Asn2247Lys) c.1189T>A n.1224T>A c.7942T>A (n.7942T>A) c.791T>A c.7797T>A (p.Asn2599Lys) c.7773T>A (p.Asn2591Lys) c.7833T>A (p.Asn2611Lys) c.7713T>A (p.Asn2571Lys) | ClinVar dbSNP |
| 17 | g.31357027T>C | CA499239446 | NF1 | c.7788T>C (p.Asn2596=) c.2370T>C (p.Asn790=) c.1962T>C (p.Asn654=) n.4451T>C c.856T>C c.7836T>C (p.Asn2612=) c.7806T>C (p.Asn2602=) c.7743T>C (p.Asn2581=) c.6741T>C (p.Asn2247=) c.1189T>C n.1224T>C c.7942T>C (n.7942T>C) c.791T>C c.7797T>C (p.Asn2599=) c.7773T>C (p.Asn2591=) c.7833T>C (p.Asn2611=) c.7713T>C (p.Asn2571=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31357027T>G | CA399018527 | NF1 | c.7788T>G (p.Asn2596Lys) c.2370T>G (p.Asn790Lys) c.1962T>G (p.Asn654Lys) n.4451T>G c.856T>G c.7836T>G (p.Asn2612Lys) c.7806T>G (p.Asn2602Lys) c.7743T>G (p.Asn2581Lys) c.6741T>G (p.Asn2247Lys) c.1189T>G n.1224T>G c.7942T>G (n.7942T>G) c.791T>G c.7797T>G (p.Asn2599Lys) c.7773T>G (p.Asn2591Lys) c.7833T>G (p.Asn2611Lys) c.7713T>G (p.Asn2571Lys) | |
| 17 | g.31357027T= | CA2255614259 | NF1 | c.7788T= (p.Asn2596=) c.2370T= (p.Asn790=) c.1962T= (p.Asn654=) n.4451T= c.856T= c.7836T= (p.Asn2612=) c.7806T= (p.Asn2602=) c.7743T= (p.Asn2581=) c.6741T= (p.Asn2247=) c.1189T= n.1224T= c.7942T= (n.7942T=) c.791T= c.7797T= (p.Asn2599=) c.7773T= (p.Asn2591=) c.7833T= (p.Asn2611=) c.7713T= (p.Asn2571=) | |
| 17 | g.31357028_31357032del | CA2739267291 | NF1 | c.7789_7793del (p.Val2597LeufsTer3) c.2371_2375del (p.Val791LeufsTer3) c.1963_1967del (p.Val655LeufsTer3) n.4452_4456del c.857_861del c.7837_7841del (p.Val2613LeufsTer3) c.7807_7811del (p.Val2603LeufsTer3) c.7744_7748del (p.Val2582LeufsTer3) c.6742_6746del (p.Val2248LeufsTer3) c.1190_1194del n.1225_1229del c.7943_7947del (n.7943_7947del) c.792_796del c.7798_7802del (p.Val2600LeufsTer3) c.7774_7778del (p.Val2592LeufsTer3) c.7834_7838del (p.Val2612LeufsTer3) c.7714_7718del (p.Val2572LeufsTer3) | ClinVar |
| 17 | g.31357028G>A | CA399018529 | NF1 | c.7789G>A (p.Val2597Ile) c.2371G>A (p.Val791Ile) c.1963G>A (p.Val655Ile) n.4452G>A c.857G>A c.7837G>A (p.Val2613Ile) c.7807G>A (p.Val2603Ile) c.7744G>A (p.Val2582Ile) c.6742G>A (p.Val2248Ile) c.1190G>A n.1225G>A c.7943G>A (n.7943G>A) c.792G>A c.7798G>A (p.Val2600Ile) c.7774G>A (p.Val2592Ile) c.7834G>A (p.Val2612Ile) c.7714G>A (p.Val2572Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31357028G>C | CA8487666 | NF1 | c.7789G>C (p.Val2597Leu) c.2371G>C (p.Val791Leu) c.1963G>C (p.Val655Leu) n.4452G>C c.857G>C c.7837G>C (p.Val2613Leu) c.7807G>C (p.Val2603Leu) c.7744G>C (p.Val2582Leu) c.6742G>C (p.Val2248Leu) c.1190G>C n.1225G>C c.7943G>C (n.7943G>C) c.792G>C c.7798G>C (p.Val2600Leu) c.7774G>C (p.Val2592Leu) c.7834G>C (p.Val2612Leu) c.7714G>C (p.Val2572Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31357028G= | CA2255614266 | NF1 | c.7789G= (p.Val2597=) c.2371G= (p.Val791=) c.1963G= (p.Val655=) n.4452G= c.857G= c.7837G= (p.Val2613=) c.7807G= (p.Val2603=) c.7744G= (p.Val2582=) c.6742G= (p.Val2248=) c.1190G= n.1225G= c.7943G= (n.7943G=) c.792G= c.7798G= (p.Val2600=) c.7774G= (p.Val2592=) c.7834G= (p.Val2612=) c.7714G= (p.Val2572=) | |
| 17 | g.31357028G>T | CA399018530 | NF1 | c.7789G>T (p.Val2597Phe) c.2371G>T (p.Val791Phe) c.1963G>T (p.Val655Phe) n.4452G>T c.857G>T c.7837G>T (p.Val2613Phe) c.7807G>T (p.Val2603Phe) c.7744G>T (p.Val2582Phe) c.6742G>T (p.Val2248Phe) c.1190G>T n.1225G>T c.7943G>T (n.7943G>T) c.792G>T c.7798G>T (p.Val2600Phe) c.7774G>T (p.Val2592Phe) c.7834G>T (p.Val2612Phe) c.7714G>T (p.Val2572Phe) | dbSNP |
| 17 | g.31357029T>A | CA399018531 | NF1 | c.7790T>A (p.Val2597Asp) c.2372T>A (p.Val791Asp) c.1964T>A (p.Val655Asp) n.4453T>A c.858T>A c.7838T>A (p.Val2613Asp) c.7808T>A (p.Val2603Asp) c.7745T>A (p.Val2582Asp) c.6743T>A (p.Val2248Asp) c.1191T>A n.1226T>A c.7944T>A (n.7944T>A) c.793T>A c.7799T>A (p.Val2600Asp) c.7775T>A (p.Val2592Asp) c.7835T>A (p.Val2612Asp) c.7715T>A (p.Val2572Asp) | dbSNP |
| 17 | g.31357029T>C | CA399018532 | NF1 | c.7790T>C (p.Val2597Ala) c.2372T>C (p.Val791Ala) c.1964T>C (p.Val655Ala) n.4453T>C c.858T>C c.7838T>C (p.Val2613Ala) c.7808T>C (p.Val2603Ala) c.7745T>C (p.Val2582Ala) c.6743T>C (p.Val2248Ala) c.1191T>C n.1226T>C c.7944T>C (n.7944T>C) c.793T>C c.7799T>C (p.Val2600Ala) c.7775T>C (p.Val2592Ala) c.7835T>C (p.Val2612Ala) c.7715T>C (p.Val2572Ala) | ClinVar dbSNP |
| 17 | g.31357029T>G | CA399018533 | NF1 | c.7790T>G (p.Val2597Gly) c.2372T>G (p.Val791Gly) c.1964T>G (p.Val655Gly) n.4453T>G c.858T>G c.7838T>G (p.Val2613Gly) c.7808T>G (p.Val2603Gly) c.7745T>G (p.Val2582Gly) c.6743T>G (p.Val2248Gly) c.1191T>G n.1226T>G c.7944T>G (n.7944T>G) c.793T>G c.7799T>G (p.Val2600Gly) c.7775T>G (p.Val2592Gly) c.7835T>G (p.Val2612Gly) c.7715T>G (p.Val2572Gly) | |
| 17 | g.31357029T= | CA2255614281 | NF1 | c.7790T= (p.Val2597=) c.2372T= (p.Val791=) c.1964T= (p.Val655=) n.4453T= c.858T= c.7838T= (p.Val2613=) c.7808T= (p.Val2603=) c.7745T= (p.Val2582=) c.6743T= (p.Val2248=) c.1191T= n.1226T= c.7944T= (n.7944T=) c.793T= c.7799T= (p.Val2600=) c.7775T= (p.Val2592=) c.7835T= (p.Val2612=) c.7715T= (p.Val2572=) | |
| 17 | g.31357029_31357030dup | CA2697559566 | NF1 | c.7790_7791dup (p.Leu2598PhefsTer21) c.2372_2373dup (p.Leu792PhefsTer21) c.1964_1965dup (p.Leu656PhefsTer21) n.4453_4454dup c.858_859dup c.7838_7839dup (p.Leu2614PhefsTer21) c.7808_7809dup (p.Leu2604PhefsTer21) c.7745_7746dup (p.Leu2583PhefsTer21) c.6743_6744dup (p.Leu2249PhefsTer21) c.1191_1192dup n.1226_1227dup c.7944_7945dup (n.7944_7945dup) c.793_794dup c.7799_7800dup (p.Leu2601PhefsTer21) c.7775_7776dup (p.Leu2593PhefsTer21) c.7835_7836dup (p.Leu2613PhefsTer21) c.7715_7716dup (p.Leu2573PhefsTer21) | ClinVar |
| 17 | g.31357030_31357039del | CA2695225532 | NF1 | c.7791_7800del (p.Leu2598LysfsTer17) c.2373_2382del (p.Leu792LysfsTer17) c.1965_1974del (p.Leu656LysfsTer17) n.4454_4463del c.859_868del c.7839_7848del (p.Leu2614LysfsTer17) c.7809_7818del (p.Leu2604LysfsTer17) c.7746_7755del (p.Leu2583LysfsTer17) c.6744_6753del (p.Leu2249LysfsTer17) c.1192_1201del n.1227_1236del c.7945_7954del (n.7945_7954del) c.794_803del c.7800_7809del (p.Leu2601LysfsTer17) c.7776_7785del (p.Leu2593LysfsTer17) c.7836_7845del (p.Leu2613LysfsTer17) c.7716_7725del (p.Leu2573LysfsTer17) | |
| 17 | g.31357030T>A | CA499239447 | NF1 | c.7791T>A (p.Val2597=) c.2373T>A (p.Val791=) c.1965T>A (p.Val655=) n.4454T>A c.859T>A c.7839T>A (p.Val2613=) c.7809T>A (p.Val2603=) c.7746T>A (p.Val2582=) c.6744T>A (p.Val2248=) c.1192T>A n.1227T>A c.7945T>A (n.7945T>A) c.794T>A c.7800T>A (p.Val2600=) c.7776T>A (p.Val2592=) c.7836T>A (p.Val2612=) c.7716T>A (p.Val2572=) | dbSNP |
| 17 | g.31357030T>C | CA499239448 | NF1 | c.7791T>C (p.Val2597=) c.2373T>C (p.Val791=) c.1965T>C (p.Val655=) n.4454T>C c.859T>C c.7839T>C (p.Val2613=) c.7809T>C (p.Val2603=) c.7746T>C (p.Val2582=) c.6744T>C (p.Val2248=) c.1192T>C n.1227T>C c.7945T>C (n.7945T>C) c.794T>C c.7800T>C (p.Val2600=) c.7776T>C (p.Val2592=) c.7836T>C (p.Val2612=) c.7716T>C (p.Val2572=) | |
| 17 | g.31357030T>G | CA499239449 | NF1 | c.7791T>G (p.Val2597=) c.2373T>G (p.Val791=) c.1965T>G (p.Val655=) n.4454T>G c.859T>G c.7839T>G (p.Val2613=) c.7809T>G (p.Val2603=) c.7746T>G (p.Val2582=) c.6744T>G (p.Val2248=) c.1192T>G n.1227T>G c.7945T>G (n.7945T>G) c.794T>G c.7800T>G (p.Val2600=) c.7776T>G (p.Val2592=) c.7836T>G (p.Val2612=) c.7716T>G (p.Val2572=) | |
| 17 | g.31357031C>A | CA399018534 | NF1 | c.7792C>A (p.Leu2598Ile) c.2374C>A (p.Leu792Ile) c.1966C>A (p.Leu656Ile) n.4455C>A c.860C>A c.7840C>A (p.Leu2614Ile) c.7810C>A (p.Leu2604Ile) c.7747C>A (p.Leu2583Ile) c.6745C>A (p.Leu2249Ile) c.1193C>A n.1228C>A c.7946C>A (n.7946C>A) c.795C>A c.7801C>A (p.Leu2601Ile) c.7777C>A (p.Leu2593Ile) c.7837C>A (p.Leu2613Ile) c.7717C>A (p.Leu2573Ile) |