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.31261709_31261710delinsAG | CA2255577383 | NF1 | c.378_379delinsAG (p.Leu126=) c.4560-2_4560-1delinsAG (n.4560-2_4560-1delinsAG) n.684-2_684-1delinsAG c.569-2_569-1delinsAG n.1223-2_1223-1delinsAG c.4608-2_4608-1delinsAG (n.4608-2_4608-1delinsAG) c.4578-2_4578-1delinsAG (n.4578-2_4578-1delinsAG) c.4515-2_4515-1delinsAG (n.4515-2_4515-1delinsAG) c.3513-2_3513-1delinsAG (n.3513-2_3513-1delinsAG) c.1094-2_1094-1delinsAG c.1031-2_1031-1delinsAG n.3051-2_3051-1delinsAG c.4617-2_4617-1delinsAG (n.4617-2_4617-1delinsAG) c.4569-2_4569-1delinsAG (n.4569-2_4569-1delinsAG) c.4545-2_4545-1delinsAG (n.4545-2_4545-1delinsAG) c.4605-2_4605-1delinsAG (n.4605-2_4605-1delinsAG) | |
| 17 | g.31261710G>A | CA399000077 | NF1 | c.379G>A (p.Gly127Arg) c.4560-1G>A (n.4560-1G>A) n.684-1G>A c.569-1G>A n.1223-1G>A c.4608-1G>A (n.4608-1G>A) c.4578-1G>A (n.4578-1G>A) c.4515-1G>A (n.4515-1G>A) c.3513-1G>A (n.3513-1G>A) c.1094-1G>A c.1031-1G>A n.3051-1G>A c.4617-1G>A (n.4617-1G>A) c.4569-1G>A (n.4569-1G>A) c.4545-1G>A (n.4545-1G>A) c.4605-1G>A (n.4605-1G>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31261710G>C | CA399000079 | NF1 | c.379G>C (p.Gly127Arg) c.4560-1G>C (n.4560-1G>C) n.684-1G>C c.569-1G>C n.1223-1G>C c.4608-1G>C (n.4608-1G>C) c.4578-1G>C (n.4578-1G>C) c.4515-1G>C (n.4515-1G>C) c.3513-1G>C (n.3513-1G>C) c.1094-1G>C c.1031-1G>C n.3051-1G>C c.4617-1G>C (n.4617-1G>C) c.4569-1G>C (n.4569-1G>C) c.4545-1G>C (n.4545-1G>C) c.4605-1G>C (n.4605-1G>C) | ClinVar dbSNP |
| 17 | g.31261710G= | CA2255577384 | NF1 | c.379G= (p.Gly127=) c.4560-1G= (n.4560-1G=) n.684-1G= c.569-1G= n.1223-1G= c.4608-1G= (n.4608-1G=) c.4578-1G= (n.4578-1G=) c.4515-1G= (n.4515-1G=) c.3513-1G= (n.3513-1G=) c.1094-1G= c.1031-1G= n.3051-1G= c.4617-1G= (n.4617-1G=) c.4569-1G= (n.4569-1G=) c.4545-1G= (n.4545-1G=) c.4605-1G= (n.4605-1G=) | |
| 17 | g.31261710G>T | CA399000080 | NF1 | c.379G>T (p.Gly127Trp) c.4560-1G>T (n.4560-1G>T) n.684-1G>T c.569-1G>T n.1223-1G>T c.4608-1G>T (n.4608-1G>T) c.4578-1G>T (n.4578-1G>T) c.4515-1G>T (n.4515-1G>T) c.3513-1G>T (n.3513-1G>T) c.1094-1G>T c.1031-1G>T n.3051-1G>T c.4617-1G>T (n.4617-1G>T) c.4569-1G>T (n.4569-1G>T) c.4545-1G>T (n.4545-1G>T) c.4605-1G>T (n.4605-1G>T) | ClinVar dbSNP |
| 17 | g.31261712del | CA1139665374 | NF1 | c.381del (p.Ile128SerfsTer2) c.4561del n.685del c.570del n.1224del c.4609del c.4579del c.4516del c.3514del c.1095del c.1032del n.3052del c.4618del c.4570del c.4546del c.4606del | ClinVar dbSNP |
| 17 | g.31261711G>A | CA499233828 | NF1 | c.380G>A (p.Gly127Glu) c.4560G>A (p.Arg1520=) n.684G>A c.569G>A n.1223G>A c.4608G>A (p.Arg1536=) c.4578G>A (p.Arg1526=) c.4515G>A (p.Arg1505=) c.3513G>A (p.Arg1171=) c.1094G>A c.1031G>A n.3051G>A c.4617G>A (p.Arg1539=) c.4569G>A (p.Arg1523=) c.4545G>A (p.Arg1515=) c.4605G>A (p.Arg1535=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31261711G>C | CA399000082 | NF1 | c.380G>C (p.Gly127Ala) c.4560G>C (p.Arg1520Ser) n.684G>C c.569G>C n.1223G>C c.4608G>C (p.Arg1536Ser) c.4578G>C (p.Arg1526Ser) c.4515G>C (p.Arg1505Ser) c.3513G>C (p.Arg1171Ser) c.1094G>C c.1031G>C n.3051G>C c.4617G>C (p.Arg1539Ser) c.4569G>C (p.Arg1523Ser) c.4545G>C (p.Arg1515Ser) c.4605G>C (p.Arg1535Ser) | dbSNP |
| 17 | g.31261711G= | CA2255577385 | NF1 | c.380G= (p.Gly127=) c.4560G= (p.Arg1520=) n.684G= c.569G= n.1223G= c.4608G= (p.Arg1536=) c.4578G= (p.Arg1526=) c.4515G= (p.Arg1505=) c.3513G= (p.Arg1171=) c.1094G= c.1031G= n.3051G= c.4617G= (p.Arg1539=) c.4569G= (p.Arg1523=) c.4545G= (p.Arg1515=) c.4605G= (p.Arg1535=) | |
| 17 | g.31261711G>T | CA399000084 | NF1 | c.380G>T (p.Gly127Val) c.4560G>T (p.Arg1520Ser) n.684G>T c.569G>T n.1223G>T c.4608G>T (p.Arg1536Ser) c.4578G>T (p.Arg1526Ser) c.4515G>T (p.Arg1505Ser) c.3513G>T (p.Arg1171Ser) c.1094G>T c.1031G>T n.3051G>T c.4617G>T (p.Arg1539Ser) c.4569G>T (p.Arg1523Ser) c.4545G>T (p.Arg1515Ser) c.4605G>T (p.Arg1535Ser) | ClinVar dbSNP |
| 17 | g.31261712G>A | CA399000086 | NF1 | c.381G>A (p.Gly127=) c.4561G>A (p.Asp1521Asn) n.685G>A c.570G>A n.1224G>A c.4609G>A (p.Asp1537Asn) c.4579G>A (p.Asp1527Asn) c.4516G>A (p.Asp1506Asn) c.3514G>A (p.Asp1172Asn) c.1095G>A c.1032G>A n.3052G>A c.4618G>A (p.Asp1540Asn) c.4570G>A (p.Asp1524Asn) c.4546G>A (p.Asp1516Asn) c.4606G>A (p.Asp1536Asn) | ClinVar dbSNP |
| 17 | g.31261712G>C | CA399000087 | NF1 | c.381G>C (p.Gly127=) c.4561G>C (p.Asp1521His) n.685G>C c.570G>C n.1224G>C c.4609G>C (p.Asp1537His) c.4579G>C (p.Asp1527His) c.4516G>C (p.Asp1506His) c.3514G>C (p.Asp1172His) c.1095G>C c.1032G>C n.3052G>C c.4618G>C (p.Asp1540His) c.4570G>C (p.Asp1524His) c.4546G>C (p.Asp1516His) c.4606G>C (p.Asp1536His) | dbSNP |
| 17 | g.31261712G= | CA2255577386 | NF1 | c.381G= (p.Gly127=) c.4561G= (p.Asp1521=) n.685G= c.570G= n.1224G= c.4609G= (p.Asp1537=) c.4579G= (p.Asp1527=) c.4516G= (p.Asp1506=) c.3514G= (p.Asp1172=) c.1095G= c.1032G= n.3052G= c.4618G= (p.Asp1540=) c.4570G= (p.Asp1524=) c.4546G= (p.Asp1516=) c.4606G= (p.Asp1536=) | |
| 17 | g.31261712G>T | CA164651 | NF1 | c.381G>T (p.Gly127=) c.4561G>T (p.Asp1521Tyr) n.685G>T c.570G>T n.1224G>T c.4609G>T (p.Asp1537Tyr) c.4579G>T (p.Asp1527Tyr) c.4516G>T (p.Asp1506Tyr) c.3514G>T (p.Asp1172Tyr) c.1095G>T c.1032G>T n.3052G>T c.4618G>T (p.Asp1540Tyr) c.4570G>T (p.Asp1524Tyr) c.4546G>T (p.Asp1516Tyr) c.4606G>T (p.Asp1536Tyr) | ClinVar dbSNP |
| 17 | g.31261713A= | CA2255577387 | NF1 | c.382A= (p.Ile128=) c.4562A= (p.Asp1521=) n.686A= c.571A= n.1225A= c.4610A= (p.Asp1537=) c.4580A= (p.Asp1527=) c.4517A= (p.Asp1506=) c.3515A= (p.Asp1172=) c.1096A= c.1033A= n.3053A= c.4619A= (p.Asp1540=) c.4571A= (p.Asp1524=) c.4547A= (p.Asp1516=) c.4607A= (p.Asp1536=) | |
| 17 | g.31261713A>C | CA399000088 | NF1 | c.382A>C (p.Ile128Leu) c.4562A>C (p.Asp1521Ala) n.686A>C c.571A>C n.1225A>C c.4610A>C (p.Asp1537Ala) c.4580A>C (p.Asp1527Ala) c.4517A>C (p.Asp1506Ala) c.3515A>C (p.Asp1172Ala) c.1096A>C c.1033A>C n.3053A>C c.4619A>C (p.Asp1540Ala) c.4571A>C (p.Asp1524Ala) c.4547A>C (p.Asp1516Ala) c.4607A>C (p.Asp1536Ala) | |
| 17 | g.31261713A>G | CA399000089 | NF1 | c.382A>G (p.Ile128Val) c.4562A>G (p.Asp1521Gly) n.686A>G c.571A>G n.1225A>G c.4610A>G (p.Asp1537Gly) c.4580A>G (p.Asp1527Gly) c.4517A>G (p.Asp1506Gly) c.3515A>G (p.Asp1172Gly) c.1096A>G c.1033A>G n.3053A>G c.4619A>G (p.Asp1540Gly) c.4571A>G (p.Asp1524Gly) c.4547A>G (p.Asp1516Gly) c.4607A>G (p.Asp1536Gly) | |
| 17 | g.31261713A>T | CA399000091 | NF1 | c.382A>T (p.Ile128Phe) c.4562A>T (p.Asp1521Val) n.686A>T c.571A>T n.1225A>T c.4610A>T (p.Asp1537Val) c.4580A>T (p.Asp1527Val) c.4517A>T (p.Asp1506Val) c.3515A>T (p.Asp1172Val) c.1096A>T c.1033A>T n.3053A>T c.4619A>T (p.Asp1540Val) c.4571A>T (p.Asp1524Val) c.4547A>T (p.Asp1516Val) c.4607A>T (p.Asp1536Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31261713_31261714delinsAT | CA2255577388 | NF1 | c.382_383delinsAT (p.Ile128=) c.4562_4563delinsAT (p.Asp1521=) n.686_687delinsAT c.571_572delinsAT n.1225_1226delinsAT c.4610_4611delinsAT (p.Asp1537=) c.4580_4581delinsAT (p.Asp1527=) c.4517_4518delinsAT (p.Asp1506=) c.3515_3516delinsAT (p.Asp1172=) c.1096_1097delinsAT c.1033_1034delinsAT n.3053_3054delinsAT c.4619_4620delinsAT (p.Asp1540=) c.4571_4572delinsAT (p.Asp1524=) c.4547_4548delinsAT (p.Asp1516=) c.4607_4608delinsAT (p.Asp1536=) | |
| 17 | g.31261714del | CA915949661 | NF1 | c.383del (p.Ile128ThrfsTer2) c.4563del (p.His1522IlefsTer?) n.687del c.572del n.1226del c.4611del (p.His1538IlefsTer?) c.4581del (p.His1528IlefsTer?) c.4518del (p.His1507IlefsTer?) c.3516del (p.His1173IlefsTer?) c.1097del c.1034del n.3054del c.4620del (p.His1541IlefsTer?) c.4572del (p.His1525IlefsTer?) c.4548del (p.His1517IlefsTer?) c.4608del (p.His1537IlefsTer?) | ClinVar dbSNP |
| 17 | g.31261714T>A | CA399000093 | NF1 | c.383T>A (p.Ile128Asn) c.4563T>A (p.Asp1521Glu) n.687T>A c.572T>A n.1226T>A c.4611T>A (p.Asp1537Glu) c.4581T>A (p.Asp1527Glu) c.4518T>A (p.Asp1506Glu) c.3516T>A (p.Asp1172Glu) c.1097T>A c.1034T>A n.3054T>A c.4620T>A (p.Asp1540Glu) c.4572T>A (p.Asp1524Glu) c.4548T>A (p.Asp1516Glu) c.4608T>A (p.Asp1536Glu) | dbSNP |
| 17 | g.31261714T>C | CA499233829 | NF1 | c.383T>C (p.Ile128Thr) c.4563T>C (p.Asp1521=) n.687T>C c.572T>C n.1226T>C c.4611T>C (p.Asp1537=) c.4581T>C (p.Asp1527=) c.4518T>C (p.Asp1506=) c.3516T>C (p.Asp1172=) c.1097T>C c.1034T>C n.3054T>C c.4620T>C (p.Asp1540=) c.4572T>C (p.Asp1524=) c.4548T>C (p.Asp1516=) c.4608T>C (p.Asp1536=) | |
| 17 | g.31261714T>G | CA399000094 | NF1 | c.383T>G (p.Ile128Ser) c.4563T>G (p.Asp1521Glu) n.687T>G c.572T>G n.1226T>G c.4611T>G (p.Asp1537Glu) c.4581T>G (p.Asp1527Glu) c.4518T>G (p.Asp1506Glu) c.3516T>G (p.Asp1172Glu) c.1097T>G c.1034T>G n.3054T>G c.4620T>G (p.Asp1540Glu) c.4572T>G (p.Asp1524Glu) c.4548T>G (p.Asp1516Glu) c.4608T>G (p.Asp1536Glu) | dbSNP |
| 17 | g.31261715C>A | CA399000097 | NF1 | c.384C>A (p.Ile128=) c.4564C>A (p.His1522Asn) n.688C>A c.573C>A n.1227C>A c.4612C>A (p.His1538Asn) c.4582C>A (p.His1528Asn) c.4519C>A (p.His1507Asn) c.3517C>A (p.His1173Asn) c.1098C>A c.1035C>A n.3055C>A c.4621C>A (p.His1541Asn) c.4573C>A (p.His1525Asn) c.4549C>A (p.His1517Asn) c.4609C>A (p.His1537Asn) | dbSNP |
| 17 | g.31261715C>G | CA399000100 | NF1 | c.384C>G (p.Ile128Met) c.4564C>G (p.His1522Asp) n.688C>G c.573C>G n.1227C>G c.4612C>G (p.His1538Asp) c.4582C>G (p.His1528Asp) c.4519C>G (p.His1507Asp) c.3517C>G (p.His1173Asp) c.1098C>G c.1035C>G n.3055C>G c.4621C>G (p.His1541Asp) c.4573C>G (p.His1525Asp) c.4549C>G (p.His1517Asp) c.4609C>G (p.His1537Asp) | dbSNP gnomAD v4 |
| 17 | g.31261715C>T | CA399000099 | NF1 | c.384C>T (p.Ile128=) c.4564C>T (p.His1522Tyr) n.688C>T c.573C>T n.1227C>T c.4612C>T (p.His1538Tyr) c.4582C>T (p.His1528Tyr) c.4519C>T (p.His1507Tyr) c.3517C>T (p.His1173Tyr) c.1098C>T c.1035C>T n.3055C>T c.4621C>T (p.His1541Tyr) c.4573C>T (p.His1525Tyr) c.4549C>T (p.His1517Tyr) c.4609C>T (p.His1537Tyr) | ClinVar dbSNP |
| 17 | g.31261716A>C | CA399000102 | NF1 | c.385A>C (p.Ile129Leu) c.4565A>C (p.His1522Pro) n.689A>C c.574A>C n.1228A>C c.4613A>C (p.His1538Pro) c.4583A>C (p.His1528Pro) c.4520A>C (p.His1507Pro) c.3518A>C (p.His1173Pro) c.1099A>C c.1036A>C n.3056A>C c.4622A>C (p.His1541Pro) c.4574A>C (p.His1525Pro) c.4550A>C (p.His1517Pro) c.4610A>C (p.His1537Pro) | |
| 17 | g.31261716A>G | CA399000103 | NF1 | c.385A>G (p.Ile129Val) c.4565A>G (p.His1522Arg) n.689A>G c.574A>G n.1228A>G c.4613A>G (p.His1538Arg) c.4583A>G (p.His1528Arg) c.4520A>G (p.His1507Arg) c.3518A>G (p.His1173Arg) c.1099A>G c.1036A>G n.3056A>G c.4622A>G (p.His1541Arg) c.4574A>G (p.His1525Arg) c.4550A>G (p.His1517Arg) c.4610A>G (p.His1537Arg) | |
| 17 | g.31261716A>T | CA399000105 | NF1 | c.385A>T (p.Ile129Leu) c.4565A>T (p.His1522Leu) n.689A>T c.574A>T n.1228A>T c.4613A>T (p.His1538Leu) c.4583A>T (p.His1528Leu) c.4520A>T (p.His1507Leu) c.3518A>T (p.His1173Leu) c.1099A>T c.1036A>T n.3056A>T c.4622A>T (p.His1541Leu) c.4574A>T (p.His1525Leu) c.4550A>T (p.His1517Leu) c.4610A>T (p.His1537Leu) | dbSNP |
| 17 | g.31261717T>A | CA399000109 | NF1 | c.386T>A (p.Ile129Lys) c.4566T>A (p.His1522Gln) n.690T>A c.575T>A n.1229T>A c.4614T>A (p.His1538Gln) c.4584T>A (p.His1528Gln) c.4521T>A (p.His1507Gln) c.3519T>A (p.His1173Gln) c.1100T>A c.1037T>A n.3057T>A c.4623T>A (p.His1541Gln) c.4575T>A (p.His1525Gln) c.4551T>A (p.His1517Gln) c.4611T>A (p.His1537Gln) | |
| 17 | g.31261717T>C | CA499233830 | NF1 | c.386T>C (p.Ile129Thr) c.4566T>C (p.His1522=) n.690T>C c.575T>C n.1229T>C c.4614T>C (p.His1538=) c.4584T>C (p.His1528=) c.4521T>C (p.His1507=) c.3519T>C (p.His1173=) c.1100T>C c.1037T>C n.3057T>C c.4623T>C (p.His1541=) c.4575T>C (p.His1525=) c.4551T>C (p.His1517=) c.4611T>C (p.His1537=) | |
| 17 | g.31261717T>G | CA399000111 | NF1 | c.386T>G (p.Ile129Arg) c.4566T>G (p.His1522Gln) n.690T>G c.575T>G n.1229T>G c.4614T>G (p.His1538Gln) c.4584T>G (p.His1528Gln) c.4521T>G (p.His1507Gln) c.3519T>G (p.His1173Gln) c.1100T>G c.1037T>G n.3057T>G c.4623T>G (p.His1541Gln) c.4575T>G (p.His1525Gln) c.4551T>G (p.His1517Gln) c.4611T>G (p.His1537Gln) | |
| 17 | g.31261718A>C | CA399000113 | NF1 | c.387A>C (p.Ile129=) c.4567A>C (p.Lys1523Gln) n.691A>C c.576A>C n.1230A>C c.4615A>C (p.Lys1539Gln) c.4585A>C (p.Lys1529Gln) c.4522A>C (p.Lys1508Gln) c.3520A>C (p.Lys1174Gln) c.1101A>C c.1038A>C n.3058A>C c.4624A>C (p.Lys1542Gln) c.4576A>C (p.Lys1526Gln) c.4552A>C (p.Lys1518Gln) c.4612A>C (p.Lys1538Gln) | |
| 17 | g.31261718A>G | CA399000115 | NF1 | c.387A>G (p.Ile129Met) c.4567A>G (p.Lys1523Glu) n.691A>G c.576A>G n.1230A>G c.4615A>G (p.Lys1539Glu) c.4585A>G (p.Lys1529Glu) c.4522A>G (p.Lys1508Glu) c.3520A>G (p.Lys1174Glu) c.1101A>G c.1038A>G n.3058A>G c.4624A>G (p.Lys1542Glu) c.4576A>G (p.Lys1526Glu) c.4552A>G (p.Lys1518Glu) c.4612A>G (p.Lys1538Glu) | ClinVar dbSNP |
| 17 | g.31261718A>T | CA399000116 | NF1 | c.387A>T (p.Ile129=) c.4567A>T (p.Lys1523Ter) n.691A>T c.576A>T n.1230A>T c.4615A>T (p.Lys1539Ter) c.4585A>T (p.Lys1529Ter) c.4522A>T (p.Lys1508Ter) c.3520A>T (p.Lys1174Ter) c.1101A>T c.1038A>T n.3058A>T c.4624A>T (p.Lys1542Ter) c.4576A>T (p.Lys1526Ter) c.4552A>T (p.Lys1518Ter) c.4612A>T (p.Lys1538Ter) | |
| 17 | g.31261720dup | CA2580093287 | NF1 | c.389dup (p.Leu131AlafsTer?) c.4569dup (p.Ala1524SerfsTer8) n.693dup c.578dup n.1232dup c.4617dup (p.Ala1540SerfsTer8) c.4587dup (p.Ala1530SerfsTer8) c.4524dup (p.Ala1509SerfsTer8) c.3522dup (p.Ala1175SerfsTer8) c.1103dup c.1040dup n.3060dup c.4626dup (p.Ala1543SerfsTer8) c.4578dup (p.Ala1527SerfsTer8) c.4554dup (p.Ala1519SerfsTer8) c.4614dup (p.Ala1539SerfsTer8) | ClinVar |
| 17 | g.31261720del | CA2733607974 | NF1 | c.389del (p.Lys130SerfsTer8) c.4569del (p.Ala1524LeufsTer?) n.693del c.578del n.1232del c.4617del (p.Ala1540LeufsTer?) c.4587del (p.Ala1530LeufsTer?) c.4524del (p.Ala1509LeufsTer?) c.3522del (p.Ala1175LeufsTer?) c.1103del c.1040del n.3060del c.4626del (p.Ala1543LeufsTer?) c.4578del (p.Ala1527LeufsTer?) c.4554del (p.Ala1519LeufsTer?) c.4614del (p.Ala1539LeufsTer?) | dbSNP |
| 17 | g.31261718_31261724dup | CA2580093286 | NF1 | c.387_393dup (p.Leu132LysfsTer?) c.4567_4573dup (p.Val1525GlufsTer9) n.691_697dup c.576_582dup n.1230_1236dup c.4615_4621dup (p.Val1541GlufsTer9) c.4585_4591dup (p.Val1531GlufsTer9) c.4522_4528dup (p.Val1510GlufsTer9) c.3520_3526dup (p.Val1176GlufsTer9) c.1101_1107dup c.1038_1044dup n.3058_3064dup c.4624_4630dup (p.Val1544GlufsTer9) c.4576_4582dup (p.Val1528GlufsTer9) c.4552_4558dup (p.Val1520GlufsTer9) c.4612_4618dup (p.Val1540GlufsTer9) | ClinVar |
| 17 | g.31261719A= | CA2255577389 | NF1 | c.388A= (p.Lys130=) c.4568A= (p.Lys1523=) n.692A= c.577A= n.1231A= c.4616A= (p.Lys1539=) c.4586A= (p.Lys1529=) c.4523A= (p.Lys1508=) c.3521A= (p.Lys1174=) c.1102A= c.1039A= n.3059A= c.4625A= (p.Lys1542=) c.4577A= (p.Lys1526=) c.4553A= (p.Lys1518=) c.4613A= (p.Lys1538=) | |
| 17 | g.31261719A>C | CA399000120 | NF1 | c.388A>C (p.Lys130Gln) c.4568A>C (p.Lys1523Thr) n.692A>C c.577A>C n.1231A>C c.4616A>C (p.Lys1539Thr) c.4586A>C (p.Lys1529Thr) c.4523A>C (p.Lys1508Thr) c.3521A>C (p.Lys1174Thr) c.1102A>C c.1039A>C n.3059A>C c.4625A>C (p.Lys1542Thr) c.4577A>C (p.Lys1526Thr) c.4553A>C (p.Lys1518Thr) c.4613A>C (p.Lys1538Thr) | |
| 17 | g.31261719A>G | CA399000121 | NF1 | c.388A>G (p.Lys130Glu) c.4568A>G (p.Lys1523Arg) n.692A>G c.577A>G n.1231A>G c.4616A>G (p.Lys1539Arg) c.4586A>G (p.Lys1529Arg) c.4523A>G (p.Lys1508Arg) c.3521A>G (p.Lys1174Arg) c.1102A>G c.1039A>G n.3059A>G c.4625A>G (p.Lys1542Arg) c.4577A>G (p.Lys1526Arg) c.4553A>G (p.Lys1518Arg) c.4613A>G (p.Lys1538Arg) | ClinVar dbSNP |
| 17 | g.31261719A>T | CA399000122 | NF1 | c.388A>T (p.Lys130Ter) c.4568A>T (p.Lys1523Ile) n.692A>T c.577A>T n.1231A>T c.4616A>T (p.Lys1539Ile) c.4586A>T (p.Lys1529Ile) c.4523A>T (p.Lys1508Ile) c.3521A>T (p.Lys1174Ile) c.1102A>T c.1039A>T n.3059A>T c.4625A>T (p.Lys1542Ile) c.4577A>T (p.Lys1526Ile) c.4553A>T (p.Lys1518Ile) c.4613A>T (p.Lys1538Ile) | dbSNP |
| 17 | g.31261720A>C | CA399000126 | NF1 | c.389A>C (p.Lys130Thr) c.4569A>C (p.Lys1523Asn) n.693A>C c.578A>C n.1232A>C c.4617A>C (p.Lys1539Asn) c.4587A>C (p.Lys1529Asn) c.4524A>C (p.Lys1508Asn) c.3522A>C (p.Lys1174Asn) c.1103A>C c.1040A>C n.3060A>C c.4626A>C (p.Lys1542Asn) c.4578A>C (p.Lys1526Asn) c.4554A>C (p.Lys1518Asn) c.4614A>C (p.Lys1538Asn) | |
| 17 | g.31261720A>G | CA499233831 | NF1 | c.389A>G (p.Lys130Arg) c.4569A>G (p.Lys1523=) n.693A>G c.578A>G n.1232A>G c.4617A>G (p.Lys1539=) c.4587A>G (p.Lys1529=) c.4524A>G (p.Lys1508=) c.3522A>G (p.Lys1174=) c.1103A>G c.1040A>G n.3060A>G c.4626A>G (p.Lys1542=) c.4578A>G (p.Lys1526=) c.4554A>G (p.Lys1518=) c.4614A>G (p.Lys1538=) | |
| 17 | g.31261720A>T | CA399000125 | NF1 | c.389A>T (p.Lys130Met) c.4569A>T (p.Lys1523Asn) n.693A>T c.578A>T n.1232A>T c.4617A>T (p.Lys1539Asn) c.4587A>T (p.Lys1529Asn) c.4524A>T (p.Lys1508Asn) c.3522A>T (p.Lys1174Asn) c.1103A>T c.1040A>T n.3060A>T c.4626A>T (p.Lys1542Asn) c.4578A>T (p.Lys1526Asn) c.4554A>T (p.Lys1518Asn) c.4614A>T (p.Lys1538Asn) | |
| 17 | g.31261721G>A | CA399000128 | NF1 | c.390G>A (p.Lys130=) c.4570G>A (p.Ala1524Thr) n.694G>A c.579G>A n.1233G>A c.4618G>A (p.Ala1540Thr) c.4588G>A (p.Ala1530Thr) c.4525G>A (p.Ala1509Thr) c.3523G>A (p.Ala1175Thr) c.1104G>A c.1041G>A n.3061G>A c.4627G>A (p.Ala1543Thr) c.4579G>A (p.Ala1527Thr) c.4555G>A (p.Ala1519Thr) c.4615G>A (p.Ala1539Thr) | ClinVar dbSNP |
| 17 | g.31261721G>C | CA399000130 | NF1 | c.390G>C (p.Lys130Asn) c.4570G>C (p.Ala1524Pro) n.694G>C c.579G>C n.1233G>C c.4618G>C (p.Ala1540Pro) c.4588G>C (p.Ala1530Pro) c.4525G>C (p.Ala1509Pro) c.3523G>C (p.Ala1175Pro) c.1104G>C c.1041G>C n.3061G>C c.4627G>C (p.Ala1543Pro) c.4579G>C (p.Ala1527Pro) c.4555G>C (p.Ala1519Pro) c.4615G>C (p.Ala1539Pro) | dbSNP |
| 17 | g.31261721G>T | CA399000131 | NF1 | c.390G>T (p.Lys130Asn) c.4570G>T (p.Ala1524Ser) n.694G>T c.579G>T n.1233G>T c.4618G>T (p.Ala1540Ser) c.4588G>T (p.Ala1530Ser) c.4525G>T (p.Ala1509Ser) c.3523G>T (p.Ala1175Ser) c.1104G>T c.1041G>T n.3061G>T c.4627G>T (p.Ala1543Ser) c.4579G>T (p.Ala1527Ser) c.4555G>T (p.Ala1519Ser) c.4615G>T (p.Ala1539Ser) | |
| 17 | g.31261723_31261797del | CA2580093289 | NF1 | c.392_466del (p.Leu131_Trp155del) c.4572_4646del (p.Val1525_Ala1549del) n.696_770del c.581_655del n.1235_1309del c.4620_4694del (p.Val1541_Ala1565del) c.4590_4664del (p.Val1531_Ala1555del) c.4527_4601del (p.Val1510_Ala1534del) c.3525_3599del (p.Val1176_Ala1200del) n.3063_3137del c.4629_4703del (p.Val1544_Ala1568del) c.4581_4655del (p.Val1528_Ala1552del) c.4557_4631del (p.Val1520_Ala1544del) c.4617_4691del (p.Val1540_Ala1564del) | ClinVar |
| 17 | g.31261722C>A | CA399000133 | NF1 | c.391C>A (p.Leu131Met) c.4571C>A (p.Ala1524Asp) n.695C>A c.580C>A n.1234C>A c.4619C>A (p.Ala1540Asp) c.4589C>A (p.Ala1530Asp) c.4526C>A (p.Ala1509Asp) c.3524C>A (p.Ala1175Asp) c.1105C>A c.1042C>A n.3062C>A c.4628C>A (p.Ala1543Asp) c.4580C>A (p.Ala1527Asp) c.4556C>A (p.Ala1519Asp) c.4616C>A (p.Ala1539Asp) | dbSNP |