Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31261713_31261714delinsATCA2255577388NF1c.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=)
17g.31261714delCA915949661NF1c.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
17g.31261714T>ACA399000093NF1c.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
17g.31261714T>CCA499233829NF1c.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=)
17g.31261714T>GCA399000094NF1c.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
17g.31261715C>ACA399000097NF1c.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
17g.31261715C>GCA399000100NF1c.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
17g.31261715C>TCA399000099NF1c.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
17g.31261716A>CCA399000102NF1c.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)
17g.31261716A>GCA399000103NF1c.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)
17g.31261716A>TCA399000105NF1c.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
17g.31261717T>ACA399000109NF1c.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)
17g.31261717T>CCA499233830NF1c.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=)
17g.31261717T>GCA399000111NF1c.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)
17g.31261718A>CCA399000113NF1c.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)
17g.31261718A>GCA399000115NF1c.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
17g.31261718A>TCA399000116NF1c.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)
17g.31261720dupCA2580093287NF1c.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
17g.31261720delCA2733607974NF1c.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
17g.31261718_31261724dupCA2580093286NF1c.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
17g.31261719A=CA2255577389NF1c.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=)
17g.31261719A>CCA399000120NF1c.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)
17g.31261719A>GCA399000121NF1c.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
17g.31261719A>TCA399000122NF1c.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
17g.31261720A>CCA399000126NF1c.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)
17g.31261720A>GCA499233831NF1c.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=)
17g.31261720A>TCA399000125NF1c.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)
17g.31261721G>ACA399000128NF1c.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
17g.31261721G>CCA399000130NF1c.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
17g.31261721G>TCA399000131NF1c.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)
17g.31261723_31261797delCA2580093289NF1c.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
17g.31261722C>ACA399000133NF1c.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
17g.31261722C=CA2255577390NF1c.391C= (p.Leu131=)
c.4571C= (p.Ala1524=)
n.695C=
c.580C=
n.1234C=
c.4619C= (p.Ala1540=)
c.4589C= (p.Ala1530=)
c.4526C= (p.Ala1509=)
c.3524C= (p.Ala1175=)
c.1105C=
c.1042C=
n.3062C=
c.4628C= (p.Ala1543=)
c.4580C= (p.Ala1527=)
c.4556C= (p.Ala1519=)
c.4616C= (p.Ala1539=)
17g.31261722C>GCA399000135NF1c.391C>G (p.Leu131Val)
c.4571C>G (p.Ala1524Gly)
n.695C>G
c.580C>G
n.1234C>G
c.4619C>G (p.Ala1540Gly)
c.4589C>G (p.Ala1530Gly)
c.4526C>G (p.Ala1509Gly)
c.3524C>G (p.Ala1175Gly)
c.1105C>G
c.1042C>G
n.3062C>G
c.4628C>G (p.Ala1543Gly)
c.4580C>G (p.Ala1527Gly)
c.4556C>G (p.Ala1519Gly)
c.4616C>G (p.Ala1539Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.31261722C>TCA399000137NF1c.391C>T (p.Leu131=)
c.4571C>T (p.Ala1524Val)
n.695C>T
c.580C>T
n.1234C>T
c.4619C>T (p.Ala1540Val)
c.4589C>T (p.Ala1530Val)
c.4526C>T (p.Ala1509Val)
c.3524C>T (p.Ala1175Val)
c.1105C>T
c.1042C>T
n.3062C>T
c.4628C>T (p.Ala1543Val)
c.4580C>T (p.Ala1527Val)
c.4556C>T (p.Ala1519Val)
c.4616C>T (p.Ala1539Val)
 dbSNP gnomAD v4
17g.31261722_31261723delinsCTCA2255577391NF1c.391_392delinsCT (p.Leu131=)
c.4571_4572delinsCT (p.Ala1524=)
n.695_696delinsCT
c.580_581delinsCT
n.1234_1235delinsCT
c.4619_4620delinsCT (p.Ala1540=)
c.4589_4590delinsCT (p.Ala1530=)
c.4526_4527delinsCT (p.Ala1509=)
c.3524_3525delinsCT (p.Ala1175=)
c.1105_1106delinsCT
c.1042_1043delinsCT
n.3062_3063delinsCT
c.4628_4629delinsCT (p.Ala1543=)
c.4580_4581delinsCT (p.Ala1527=)
c.4556_4557delinsCT (p.Ala1519=)
c.4616_4617delinsCT (p.Ala1539=)
17g.31261723delCA916080606NF1c.392del (p.Leu131ArgfsTer7)
c.4572del (p.Val1525LeufsTer?)
n.696del
c.581del
n.1235del
c.4620del (p.Val1541LeufsTer?)
c.4590del (p.Val1531LeufsTer?)
c.4527del (p.Val1510LeufsTer?)
c.3525del (p.Val1176LeufsTer?)
c.1106del
c.1043del
n.3063del
c.4629del (p.Val1544LeufsTer?)
c.4581del (p.Val1528LeufsTer?)
c.4557del (p.Val1520LeufsTer?)
c.4617del (p.Val1540LeufsTer?)
 ClinVar dbSNP
17g.31261723T>ACA499233834NF1c.392T>A (p.Leu131Gln)
c.4572T>A (p.Ala1524=)
n.696T>A
c.581T>A
n.1235T>A
c.4620T>A (p.Ala1540=)
c.4590T>A (p.Ala1530=)
c.4527T>A (p.Ala1509=)
c.3525T>A (p.Ala1175=)
c.1106T>A
c.1043T>A
n.3063T>A
c.4629T>A (p.Ala1543=)
c.4581T>A (p.Ala1527=)
c.4557T>A (p.Ala1519=)
c.4617T>A (p.Ala1539=)
17g.31261723T>CCA499233833NF1c.392T>C (p.Leu131Pro)
c.4572T>C (p.Ala1524=)
n.696T>C
c.581T>C
n.1235T>C
c.4620T>C (p.Ala1540=)
c.4590T>C (p.Ala1530=)
c.4527T>C (p.Ala1509=)
c.3525T>C (p.Ala1175=)
c.1106T>C
c.1043T>C
n.3063T>C
c.4629T>C (p.Ala1543=)
c.4581T>C (p.Ala1527=)
c.4557T>C (p.Ala1519=)
c.4617T>C (p.Ala1539=)
17g.31261723T>GCA499233832NF1c.392T>G (p.Leu131Arg)
c.4572T>G (p.Ala1524=)
n.696T>G
c.581T>G
n.1235T>G
c.4620T>G (p.Ala1540=)
c.4590T>G (p.Ala1530=)
c.4527T>G (p.Ala1509=)
c.3525T>G (p.Ala1175=)
c.1106T>G
c.1043T>G
n.3063T>G
c.4629T>G (p.Ala1543=)
c.4581T>G (p.Ala1527=)
c.4557T>G (p.Ala1519=)
c.4617T>G (p.Ala1539=)
17g.31261724G>ACA399000141NF1c.393G>A (p.Leu131=)
c.4573G>A (p.Val1525Ile)
n.697G>A
c.582G>A
n.1236G>A
c.4621G>A (p.Val1541Ile)
c.4591G>A (p.Val1531Ile)
c.4528G>A (p.Val1510Ile)
c.3526G>A (p.Val1176Ile)
c.1107G>A
c.1044G>A
n.3064G>A
c.4630G>A (p.Val1544Ile)
c.4582G>A (p.Val1528Ile)
c.4558G>A (p.Val1520Ile)
c.4618G>A (p.Val1540Ile)
 ClinVar dbSNP gnomAD v4
17g.31261724G>CCA399000140NF1c.393G>C (p.Leu131=)
c.4573G>C (p.Val1525Leu)
n.697G>C
c.582G>C
n.1236G>C
c.4621G>C (p.Val1541Leu)
c.4591G>C (p.Val1531Leu)
c.4528G>C (p.Val1510Leu)
c.3526G>C (p.Val1176Leu)
c.1107G>C
c.1044G>C
n.3064G>C
c.4630G>C (p.Val1544Leu)
c.4582G>C (p.Val1528Leu)
c.4558G>C (p.Val1520Leu)
c.4618G>C (p.Val1540Leu)
 dbSNP
17g.31261724G>TCA399000139NF1c.393G>T (p.Leu131=)
c.4573G>T (p.Val1525Phe)
n.697G>T
c.582G>T
n.1236G>T
c.4621G>T (p.Val1541Phe)
c.4591G>T (p.Val1531Phe)
c.4528G>T (p.Val1510Phe)
c.3526G>T (p.Val1176Phe)
c.1107G>T
c.1044G>T
n.3064G>T
c.4630G>T (p.Val1544Phe)
c.4582G>T (p.Val1528Phe)
c.4558G>T (p.Val1520Phe)
c.4618G>T (p.Val1540Phe)
 ClinVar dbSNP gnomAD v4
17g.31261725T>ACA399000143NF1c.394T>A (p.Leu132Met)
c.4574T>A (p.Val1525Asp)
n.698T>A
c.583T>A
n.1237T>A
c.4622T>A (p.Val1541Asp)
c.4592T>A (p.Val1531Asp)
c.4529T>A (p.Val1510Asp)
c.3527T>A (p.Val1176Asp)
c.1108T>A
c.1045T>A
n.3065T>A
c.4631T>A (p.Val1544Asp)
c.4583T>A (p.Val1528Asp)
c.4559T>A (p.Val1520Asp)
c.4619T>A (p.Val1540Asp)
 dbSNP
17g.31261725T>CCA399000144NF1c.394T>C (p.Leu132=)
c.4574T>C (p.Val1525Ala)
n.698T>C
c.583T>C
n.1237T>C
c.4622T>C (p.Val1541Ala)
c.4592T>C (p.Val1531Ala)
c.4529T>C (p.Val1510Ala)
c.3527T>C (p.Val1176Ala)
c.1108T>C
c.1045T>C
n.3065T>C
c.4631T>C (p.Val1544Ala)
c.4583T>C (p.Val1528Ala)
c.4559T>C (p.Val1520Ala)
c.4619T>C (p.Val1540Ala)
17g.31261725T>GCA399000146NF1c.394T>G (p.Leu132Val)
c.4574T>G (p.Val1525Gly)
n.698T>G
c.583T>G
n.1237T>G
c.4622T>G (p.Val1541Gly)
c.4592T>G (p.Val1531Gly)
c.4529T>G (p.Val1510Gly)
c.3527T>G (p.Val1176Gly)
c.1108T>G
c.1045T>G
n.3065T>G
c.4631T>G (p.Val1544Gly)
c.4583T>G (p.Val1528Gly)
c.4559T>G (p.Val1520Gly)
c.4619T>G (p.Val1540Gly)
17g.31261726delCA2514751123NF1c.395del (p.Leu132TrpfsTer6)
c.4575del (p.Gly1526GlufsTer?)
n.699del
c.584del
n.1238del
c.4623del (p.Gly1542GlufsTer?)
c.4593del (p.Gly1532GlufsTer?)
c.4530del (p.Gly1511GlufsTer?)
c.3528del (p.Gly1177GlufsTer?)
c.1109del
c.1046del
n.3066del
c.4632del (p.Gly1545GlufsTer?)
c.4584del (p.Gly1529GlufsTer?)
c.4560del (p.Gly1521GlufsTer?)
c.4620del (p.Gly1541GlufsTer?)
 ClinVar dbSNP
17g.31261726T>ACA499233835NF1c.395T>A (p.Leu132Ter)
c.4575T>A (p.Val1525=)
n.699T>A
c.584T>A
n.1238T>A
c.4623T>A (p.Val1541=)
c.4593T>A (p.Val1531=)
c.4530T>A (p.Val1510=)
c.3528T>A (p.Val1176=)
c.1109T>A
c.1046T>A
n.3066T>A
c.4632T>A (p.Val1544=)
c.4584T>A (p.Val1528=)
c.4560T>A (p.Val1520=)
c.4620T>A (p.Val1540=)
17g.31261726T>CCA8486449NF1c.395T>C (p.Leu132Ser)
c.4575T>C (p.Val1525=)
n.699T>C
c.584T>C
n.1238T>C
c.4623T>C (p.Val1541=)
c.4593T>C (p.Val1531=)
c.4530T>C (p.Val1510=)
c.3528T>C (p.Val1176=)
c.1109T>C
c.1046T>C
n.3066T>C
c.4632T>C (p.Val1544=)
c.4584T>C (p.Val1528=)
c.4560T>C (p.Val1520=)
c.4620T>C (p.Val1540=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31261726T>GCA499233836NF1c.395T>G (p.Leu132Trp)
c.4575T>G (p.Val1525=)
n.699T>G
c.584T>G
n.1238T>G
c.4623T>G (p.Val1541=)
c.4593T>G (p.Val1531=)
c.4530T>G (p.Val1510=)
c.3528T>G (p.Val1176=)
c.1109T>G
c.1046T>G
n.3066T>G
c.4632T>G (p.Val1544=)
c.4584T>G (p.Val1528=)
c.4560T>G (p.Val1520=)
c.4620T>G (p.Val1540=)
17g.31261726T=CA2255577392NF1c.395T= (p.Leu132=)
c.4575T= (p.Val1525=)
n.699T=
c.584T=
n.1238T=
c.4623T= (p.Val1541=)
c.4593T= (p.Val1531=)
c.4530T= (p.Val1510=)
c.3528T= (p.Val1176=)
c.1109T=
c.1046T=
n.3066T=
c.4632T= (p.Val1544=)
c.4584T= (p.Val1528=)
c.4560T= (p.Val1520=)
c.4620T= (p.Val1540=)
17g.31261727G>ACA399000148NF1c.396G>A (p.Leu132=)
c.4576G>A (p.Gly1526Arg)
n.700G>A
c.585G>A
n.1239G>A
c.4624G>A (p.Gly1542Arg)
c.4594G>A (p.Gly1532Arg)
c.4531G>A (p.Gly1511Arg)
c.3529G>A (p.Gly1177Arg)
c.1110G>A
c.1047G>A
n.3067G>A
c.4633G>A (p.Gly1545Arg)
c.4585G>A (p.Gly1529Arg)
c.4561G>A (p.Gly1521Arg)
c.4621G>A (p.Gly1541Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.31261727G>CCA399000150NF1c.396G>C (p.Leu132Phe)
c.4576G>C (p.Gly1526Arg)
n.700G>C
c.585G>C
n.1239G>C
c.4624G>C (p.Gly1542Arg)
c.4594G>C (p.Gly1532Arg)
c.4531G>C (p.Gly1511Arg)
c.3529G>C (p.Gly1177Arg)
c.1110G>C
c.1047G>C
n.3067G>C
c.4633G>C (p.Gly1545Arg)
c.4585G>C (p.Gly1529Arg)
c.4561G>C (p.Gly1521Arg)
c.4621G>C (p.Gly1541Arg)
17g.31261727G=CA2255577393NF1c.396G= (p.Leu132=)
c.4576G= (p.Gly1526=)
n.700G=
c.585G=
n.1239G=
c.4624G= (p.Gly1542=)
c.4594G= (p.Gly1532=)
c.4531G= (p.Gly1511=)
c.3529G= (p.Gly1177=)
c.1110G=
c.1047G=
n.3067G=
c.4633G= (p.Gly1545=)
c.4585G= (p.Gly1529=)
c.4561G= (p.Gly1521=)
c.4621G= (p.Gly1541=)
17g.31261727G>TCA399000151NF1c.396G>T (p.Leu132Phe)
c.4576G>T (p.Gly1526Ter)
n.700G>T
c.585G>T
n.1239G>T
c.4624G>T (p.Gly1542Ter)
c.4594G>T (p.Gly1532Ter)
c.4531G>T (p.Gly1511Ter)
c.3529G>T (p.Gly1177Ter)
c.1110G>T
c.1047G>T
n.3067G>T
c.4633G>T (p.Gly1545Ter)
c.4585G>T (p.Gly1529Ter)
c.4561G>T (p.Gly1521Ter)
c.4621G>T (p.Gly1541Ter)
 dbSNP
17g.31261728G>ACA399000153NF1c.397G>A (p.Glu133Lys)
c.4577G>A (p.Gly1526Glu)
n.701G>A
c.586G>A
n.1240G>A
c.4625G>A (p.Gly1542Glu)
c.4595G>A (p.Gly1532Glu)
c.4532G>A (p.Gly1511Glu)
c.3530G>A (p.Gly1177Glu)
c.1111G>A
c.1048G>A
n.3068G>A
c.4634G>A (p.Gly1545Glu)
c.4586G>A (p.Gly1529Glu)
c.4562G>A (p.Gly1521Glu)
c.4622G>A (p.Gly1541Glu)
 ClinVar dbSNP
17g.31261728G>CCA399000155NF1c.397G>C (p.Glu133Gln)
c.4577G>C (p.Gly1526Ala)
n.701G>C
c.586G>C
n.1240G>C
c.4625G>C (p.Gly1542Ala)
c.4595G>C (p.Gly1532Ala)
c.4532G>C (p.Gly1511Ala)
c.3530G>C (p.Gly1177Ala)
c.1111G>C
c.1048G>C
n.3068G>C
c.4634G>C (p.Gly1545Ala)
c.4586G>C (p.Gly1529Ala)
c.4562G>C (p.Gly1521Ala)
c.4622G>C (p.Gly1541Ala)
 dbSNP
17g.31261728G>TCA399000154NF1c.397G>T (p.Glu133Ter)
c.4577G>T (p.Gly1526Val)
n.701G>T
c.586G>T
n.1240G>T
c.4625G>T (p.Gly1542Val)
c.4595G>T (p.Gly1532Val)
c.4532G>T (p.Gly1511Val)
c.3530G>T (p.Gly1177Val)
c.1111G>T
c.1048G>T
n.3068G>T
c.4634G>T (p.Gly1545Val)
c.4586G>T (p.Gly1529Val)
c.4562G>T (p.Gly1521Val)
c.4622G>T (p.Gly1541Val)
 ClinVar dbSNP
17g.31261729A>CCA499233837NF1c.398A>C (p.Glu133Ala)
c.4578A>C (p.Gly1526=)
n.702A>C
c.587A>C
n.1241A>C
c.4626A>C (p.Gly1542=)
c.4596A>C (p.Gly1532=)
c.4533A>C (p.Gly1511=)
c.3531A>C (p.Gly1177=)
c.1112A>C
c.1049A>C
n.3069A>C
c.4635A>C (p.Gly1545=)
c.4587A>C (p.Gly1529=)
c.4563A>C (p.Gly1521=)
c.4623A>C (p.Gly1541=)
17g.31261729A>GCA499233838NF1c.398A>G (p.Glu133Gly)
c.4578A>G (p.Gly1526=)
n.702A>G
c.587A>G
n.1241A>G
c.4626A>G (p.Gly1542=)
c.4596A>G (p.Gly1532=)
c.4533A>G (p.Gly1511=)
c.3531A>G (p.Gly1177=)
c.1112A>G
c.1049A>G
n.3069A>G
c.4635A>G (p.Gly1545=)
c.4587A>G (p.Gly1529=)
c.4563A>G (p.Gly1521=)
c.4623A>G (p.Gly1541=)
17g.31261729A>TCA499233839NF1c.398A>T (p.Glu133Val)
c.4578A>T (p.Gly1526=)
n.702A>T
c.587A>T
n.1241A>T
c.4626A>T (p.Gly1542=)
c.4596A>T (p.Gly1532=)
c.4533A>T (p.Gly1511=)
c.3531A>T (p.Gly1177=)
c.1112A>T
c.1049A>T
n.3069A>T
c.4635A>T (p.Gly1545=)
c.4587A>T (p.Gly1529=)
c.4563A>T (p.Gly1521=)
c.4623A>T (p.Gly1541=)
 dbSNP
17g.31261730delCA2499224145NF1c.399del (p.Asp134ThrfsTer4)
c.4579del (p.Arg1527AspfsTer?)
n.703del
c.588del
n.1242del
c.4627del (p.Arg1543AspfsTer?)
c.4597del (p.Arg1533AspfsTer?)
c.4534del (p.Arg1512AspfsTer?)
c.3532del (p.Arg1178AspfsTer?)
c.1113del
c.1050del
n.3070del
c.4636del (p.Arg1546AspfsTer?)
c.4588del (p.Arg1530AspfsTer?)
c.4564del (p.Arg1522AspfsTer?)
c.4624del (p.Arg1542AspfsTer?)
 ClinVar dbSNP
17g.31261730A=CA2255577395NF1c.399A= (p.Glu133=)
c.4579A= (p.Arg1527=)
n.703A=
c.588A=
n.1242A=
c.4627A= (p.Arg1543=)
c.4597A= (p.Arg1533=)
c.4534A= (p.Arg1512=)
c.3532A= (p.Arg1178=)
c.1113A=
c.1050A=
n.3070A=
c.4636A= (p.Arg1546=)
c.4588A= (p.Arg1530=)
c.4564A= (p.Arg1522=)
c.4624A= (p.Arg1542=)
17g.31261730A>CCA499233840NF1c.399A>C (p.Glu133Asp)
c.4579A>C (p.Arg1527=)
n.703A>C
c.588A>C
n.1242A>C
c.4627A>C (p.Arg1543=)
c.4597A>C (p.Arg1533=)
c.4534A>C (p.Arg1512=)
c.3532A>C (p.Arg1178=)
c.1113A>C
c.1050A>C
n.3070A>C
c.4636A>C (p.Arg1546=)
c.4588A>C (p.Arg1530=)
c.4564A>C (p.Arg1522=)
c.4624A>C (p.Arg1542=)
17g.31261730A>GCA399000156NF1c.399A>G (p.Glu133=)
c.4579A>G (p.Arg1527Gly)
n.703A>G
c.588A>G
n.1242A>G
c.4627A>G (p.Arg1543Gly)
c.4597A>G (p.Arg1533Gly)
c.4534A>G (p.Arg1512Gly)
c.3532A>G (p.Arg1178Gly)
c.1113A>G
c.1050A>G
n.3070A>G
c.4636A>G (p.Arg1546Gly)
c.4588A>G (p.Arg1530Gly)
c.4564A>G (p.Arg1522Gly)
c.4624A>G (p.Arg1542Gly)
17g.31261730A>TCA16620368NF1c.399A>T (p.Glu133Asp)
c.4579A>T (p.Arg1527Ter)
n.703A>T
c.588A>T
n.1242A>T
c.4627A>T (p.Arg1543Ter)
c.4597A>T (p.Arg1533Ter)
c.4534A>T (p.Arg1512Ter)
c.3532A>T (p.Arg1178Ter)
c.1113A>T
c.1050A>T
n.3070A>T
c.4636A>T (p.Arg1546Ter)
c.4588A>T (p.Arg1530Ter)
c.4564A>T (p.Arg1522Ter)
c.4624A>T (p.Arg1542Ter)
 ClinVar dbSNP
17g.31261730_31261731delinsAGCA2255577394NF1c.399_400delinsAG (p.Glu133=)
c.4579_4580delinsAG (p.Arg1527=)
n.703_704delinsAG
c.588_589delinsAG
n.1242_1243delinsAG
c.4627_4628delinsAG (p.Arg1543=)
c.4597_4598delinsAG (p.Arg1533=)
c.4534_4535delinsAG (p.Arg1512=)
c.3532_3533delinsAG (p.Arg1178=)
c.1113_1114delinsAG
c.1050_1051delinsAG
n.3070_3071delinsAG
c.4636_4637delinsAG (p.Arg1546=)
c.4588_4589delinsAG (p.Arg1530=)
c.4564_4565delinsAG (p.Arg1522=)
c.4624_4625delinsAG (p.Arg1542=)
17g.31261731delCA16615646NF1c.400del (p.Asp134ThrfsTer4)
c.4580del (p.Arg1527AsnfsTer?)
n.704del
c.589del
n.1243del
c.4628del (p.Arg1543AsnfsTer?)
c.4598del (p.Arg1533AsnfsTer?)
c.4535del (p.Arg1512AsnfsTer?)
c.3533del (p.Arg1178AsnfsTer?)
c.1114del
c.1051del
n.3071del
c.4637del (p.Arg1546AsnfsTer?)
c.4589del (p.Arg1530AsnfsTer?)
c.4565del (p.Arg1522AsnfsTer?)
c.4625del (p.Arg1542AsnfsTer?)
 ClinVar dbSNP
17g.31261731G>ACA399000159NF1c.400G>A (p.Asp134Asn)
c.4580G>A (p.Arg1527Lys)
n.704G>A
c.589G>A
n.1243G>A
c.4628G>A (p.Arg1543Lys)
c.4598G>A (p.Arg1533Lys)
c.4535G>A (p.Arg1512Lys)
c.3533G>A (p.Arg1178Lys)
c.1114G>A
c.1051G>A
n.3071G>A
c.4637G>A (p.Arg1546Lys)
c.4589G>A (p.Arg1530Lys)
c.4565G>A (p.Arg1522Lys)
c.4625G>A (p.Arg1542Lys)
 ClinVar dbSNP
17g.31261731G>CCA399000161NF1c.400G>C (p.Asp134His)
c.4580G>C (p.Arg1527Thr)
n.704G>C
c.589G>C
n.1243G>C
c.4628G>C (p.Arg1543Thr)
c.4598G>C (p.Arg1533Thr)
c.4535G>C (p.Arg1512Thr)
c.3533G>C (p.Arg1178Thr)
c.1114G>C
c.1051G>C
n.3071G>C
c.4637G>C (p.Arg1546Thr)
c.4589G>C (p.Arg1530Thr)
c.4565G>C (p.Arg1522Thr)
c.4625G>C (p.Arg1542Thr)
 dbSNP
17g.31261731G>TCA399000162NF1c.400G>T (p.Asp134Tyr)
c.4580G>T (p.Arg1527Ile)
n.704G>T
c.589G>T
n.1243G>T
c.4628G>T (p.Arg1543Ile)
c.4598G>T (p.Arg1533Ile)
c.4535G>T (p.Arg1512Ile)
c.3533G>T (p.Arg1178Ile)
c.1114G>T
c.1051G>T
n.3071G>T
c.4637G>T (p.Arg1546Ile)
c.4589G>T (p.Arg1530Ile)
c.4565G>T (p.Arg1522Ile)
c.4625G>T (p.Arg1542Ile)
17g.31261731_31261734dupCA2576223359NF1c.400_403dup (p.Asp135GlyfsTer?)
c.4580_4583dup (p.Pro1529ThrfsTer4)
n.704_707dup
c.589_592dup
n.1243_1246dup
c.4628_4631dup (p.Pro1545ThrfsTer4)
c.4598_4601dup (p.Pro1535ThrfsTer4)
c.4535_4538dup (p.Pro1514ThrfsTer4)
c.3533_3536dup (p.Pro1180ThrfsTer4)
c.1114_1117dup
c.1051_1054dup
n.3071_3074dup
c.4637_4640dup (p.Pro1548ThrfsTer4)
c.4589_4592dup (p.Pro1532ThrfsTer4)
c.4565_4568dup (p.Pro1524ThrfsTer4)
c.4625_4628dup (p.Pro1544ThrfsTer4)
17g.31261732delCA2831039636NF1c.401del (p.Asp134AlafsTer4)
c.4581del (p.Arg1527SerfsTer?)
n.705del
c.590del
n.1244del
c.4629del (p.Arg1543SerfsTer?)
c.4599del (p.Arg1533SerfsTer?)
c.4536del (p.Arg1512SerfsTer?)
c.3534del (p.Arg1178SerfsTer?)
c.1115del
c.1052del
n.3072del
c.4638del (p.Arg1546SerfsTer?)
c.4590del (p.Arg1530SerfsTer?)
c.4566del (p.Arg1522SerfsTer?)
c.4626del (p.Arg1542SerfsTer?)
17g.31261732A=CA2255577396NF1c.401A= (p.Asp134=)
c.4581A= (p.Arg1527=)
n.705A=
c.590A=
n.1244A=
c.4629A= (p.Arg1543=)
c.4599A= (p.Arg1533=)
c.4536A= (p.Arg1512=)
c.3534A= (p.Arg1178=)
c.1115A=
c.1052A=
n.3072A=
c.4638A= (p.Arg1546=)
c.4590A= (p.Arg1530=)
c.4566A= (p.Arg1522=)
c.4626A= (p.Arg1542=)
17g.31261732A>CCA399000164NF1c.401A>C (p.Asp134Ala)
c.4581A>C (p.Arg1527Ser)
n.705A>C
c.590A>C
n.1244A>C
c.4629A>C (p.Arg1543Ser)
c.4599A>C (p.Arg1533Ser)
c.4536A>C (p.Arg1512Ser)
c.3534A>C (p.Arg1178Ser)
c.1115A>C
c.1052A>C
n.3072A>C
c.4638A>C (p.Arg1546Ser)
c.4590A>C (p.Arg1530Ser)
c.4566A>C (p.Arg1522Ser)
c.4626A>C (p.Arg1542Ser)
17g.31261732A>GCA499233841NF1c.401A>G (p.Asp134Gly)
c.4581A>G (p.Arg1527=)
n.705A>G
c.590A>G
n.1244A>G
c.4629A>G (p.Arg1543=)
c.4599A>G (p.Arg1533=)
c.4536A>G (p.Arg1512=)
c.3534A>G (p.Arg1178=)
c.1115A>G
c.1052A>G
n.3072A>G
c.4638A>G (p.Arg1546=)
c.4590A>G (p.Arg1530=)
c.4566A>G (p.Arg1522=)
c.4626A>G (p.Arg1542=)
 ClinVar dbSNP
17g.31261732A>TCA399000166NF1c.401A>T (p.Asp134Val)
c.4581A>T (p.Arg1527Ser)
n.705A>T
c.590A>T
n.1244A>T
c.4629A>T (p.Arg1543Ser)
c.4599A>T (p.Arg1533Ser)
c.4536A>T (p.Arg1512Ser)
c.3534A>T (p.Arg1178Ser)
c.1115A>T
c.1052A>T
n.3072A>T
c.4638A>T (p.Arg1546Ser)
c.4590A>T (p.Arg1530Ser)
c.4566A>T (p.Arg1522Ser)
c.4626A>T (p.Arg1542Ser)
 ClinVar dbSNP
17g.31261733C>ACA499233842NF1c.402C>A (p.Asp134Glu)
c.4582C>A (p.Arg1528=)
n.706C>A
c.591C>A
n.1245C>A
c.4630C>A (p.Arg1544=)
c.4600C>A (p.Arg1534=)
c.4537C>A (p.Arg1513=)
c.3535C>A (p.Arg1179=)
c.1116C>A
c.1053C>A
n.3073C>A
c.4639C>A (p.Arg1547=)
c.4591C>A (p.Arg1531=)
c.4567C>A (p.Arg1523=)
c.4627C>A (p.Arg1543=)
 dbSNP
17g.31261733C=CA2255577397NF1c.402C= (p.Asp134=)
c.4582C= (p.Arg1528=)
n.706C=
c.591C=
n.1245C=
c.4630C= (p.Arg1544=)
c.4600C= (p.Arg1534=)
c.4537C= (p.Arg1513=)
c.3535C= (p.Arg1179=)
c.1116C=
c.1053C=
n.3073C=
c.4639C= (p.Arg1547=)
c.4591C= (p.Arg1531=)
c.4567C= (p.Arg1523=)
c.4627C= (p.Arg1543=)
17g.31261733C>GCA399000168NF1c.402C>G (p.Asp134Glu)
c.4582C>G (p.Arg1528Gly)
n.706C>G
c.591C>G
n.1245C>G
c.4630C>G (p.Arg1544Gly)
c.4600C>G (p.Arg1534Gly)
c.4537C>G (p.Arg1513Gly)
c.3535C>G (p.Arg1179Gly)
c.1116C>G
c.1053C>G
n.3073C>G
c.4639C>G (p.Arg1547Gly)
c.4591C>G (p.Arg1531Gly)
c.4567C>G (p.Arg1523Gly)
c.4627C>G (p.Arg1543Gly)
 dbSNP
17g.31261733C>TCA350085NF1c.402C>T (p.Asp134=)
c.4582C>T (p.Arg1528Ter)
n.706C>T
c.591C>T
n.1245C>T
c.4630C>T (p.Arg1544Ter)
c.4600C>T (p.Arg1534Ter)
c.4537C>T (p.Arg1513Ter)
c.3535C>T (p.Arg1179Ter)
c.1116C>T
c.1053C>T
n.3073C>T
c.4639C>T (p.Arg1547Ter)
c.4591C>T (p.Arg1531Ter)
c.4567C>T (p.Arg1523Ter)
c.4627C>T (p.Arg1543Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.31261734G>ACA289353613NF1c.403G>A (p.Asp135Asn)
c.4583G>A (p.Arg1528Gln)
n.707G>A
c.592G>A
n.1246G>A
c.4631G>A (p.Arg1544Gln)
c.4601G>A (p.Arg1534Gln)
c.4538G>A (p.Arg1513Gln)
c.3536G>A (p.Arg1179Gln)
c.1117G>A
c.1054G>A
n.3074G>A
c.4640G>A (p.Arg1547Gln)
c.4592G>A (p.Arg1531Gln)
c.4568G>A (p.Arg1523Gln)
c.4628G>A (p.Arg1543Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31261734G>CCA399000172NF1c.403G>C (p.Asp135His)
c.4583G>C (p.Arg1528Pro)
n.707G>C
c.592G>C
n.1246G>C
c.4631G>C (p.Arg1544Pro)
c.4601G>C (p.Arg1534Pro)
c.4538G>C (p.Arg1513Pro)
c.3536G>C (p.Arg1179Pro)
c.1117G>C
c.1054G>C
n.3074G>C
c.4640G>C (p.Arg1547Pro)
c.4592G>C (p.Arg1531Pro)
c.4568G>C (p.Arg1523Pro)
c.4628G>C (p.Arg1543Pro)
 dbSNP
17g.31261734G=CA2255577398NF1c.403G= (p.Asp135=)
c.4583G= (p.Arg1528=)
n.707G=
c.592G=
n.1246G=
c.4631G= (p.Arg1544=)
c.4601G= (p.Arg1534=)
c.4538G= (p.Arg1513=)
c.3536G= (p.Arg1179=)
c.1117G=
c.1054G=
n.3074G=
c.4640G= (p.Arg1547=)
c.4592G= (p.Arg1531=)
c.4568G= (p.Arg1523=)
c.4628G= (p.Arg1543=)
17g.31261734G>TCA399000174NF1c.403G>T (p.Asp135Tyr)
c.4583G>T (p.Arg1528Leu)
n.707G>T
c.592G>T
n.1246G>T
c.4631G>T (p.Arg1544Leu)
c.4601G>T (p.Arg1534Leu)
c.4538G>T (p.Arg1513Leu)
c.3536G>T (p.Arg1179Leu)
c.1117G>T
c.1054G>T
n.3074G>T
c.4640G>T (p.Arg1547Leu)
c.4592G>T (p.Arg1531Leu)
c.4568G>T (p.Arg1523Leu)
c.4628G>T (p.Arg1543Leu)
17g.31261735A=CA2255577399NF1c.404A= (p.Asp135=)
c.4584A= (p.Arg1528=)
n.708A=
c.593A=
n.1247A=
c.4632A= (p.Arg1544=)
c.4602A= (p.Arg1534=)
c.4539A= (p.Arg1513=)
c.3537A= (p.Arg1179=)
c.1118A=
c.1055A=
n.3075A=
c.4641A= (p.Arg1547=)
c.4593A= (p.Arg1531=)
c.4569A= (p.Arg1523=)
c.4629A= (p.Arg1543=)
17g.31261735A>CCA499233843NF1c.404A>C (p.Asp135Ala)
c.4584A>C (p.Arg1528=)
n.708A>C
c.593A>C
n.1247A>C
c.4632A>C (p.Arg1544=)
c.4602A>C (p.Arg1534=)
c.4539A>C (p.Arg1513=)
c.3537A>C (p.Arg1179=)
c.1118A>C
c.1055A>C
n.3075A>C
c.4641A>C (p.Arg1547=)
c.4593A>C (p.Arg1531=)
c.4569A>C (p.Arg1523=)
c.4629A>C (p.Arg1543=)
17g.31261735A>GCA499233844NF1c.404A>G (p.Asp135Gly)
c.4584A>G (p.Arg1528=)
n.708A>G
c.593A>G
n.1247A>G
c.4632A>G (p.Arg1544=)
c.4602A>G (p.Arg1534=)
c.4539A>G (p.Arg1513=)
c.3537A>G (p.Arg1179=)
c.1118A>G
c.1055A>G
n.3075A>G
c.4641A>G (p.Arg1547=)
c.4593A>G (p.Arg1531=)
c.4569A>G (p.Arg1523=)
c.4629A>G (p.Arg1543=)
 dbSNP gnomAD v2 gnomAD v4
17g.31261735A>TCA499233845NF1c.404A>T (p.Asp135Val)
c.4584A>T (p.Arg1528=)
n.708A>T
c.593A>T
n.1247A>T
c.4632A>T (p.Arg1544=)
c.4602A>T (p.Arg1534=)
c.4539A>T (p.Arg1513=)
c.3537A>T (p.Arg1179=)
c.1118A>T
c.1055A>T
n.3075A>T
c.4641A>T (p.Arg1547=)
c.4593A>T (p.Arg1531=)
c.4569A>T (p.Arg1523=)
c.4629A>T (p.Arg1543=)
 ClinVar dbSNP
17g.31261736C>ACA399000175NF1c.405C>A (p.Asp135Glu)
c.4585C>A (p.Pro1529Thr)
n.709C>A
c.594C>A
n.1248C>A
c.4633C>A (p.Pro1545Thr)
c.4603C>A (p.Pro1535Thr)
c.4540C>A (p.Pro1514Thr)
c.3538C>A (p.Pro1180Thr)
c.1119C>A
c.1056C>A
n.3076C>A
c.4642C>A (p.Pro1548Thr)
c.4594C>A (p.Pro1532Thr)
c.4570C>A (p.Pro1524Thr)
c.4630C>A (p.Pro1544Thr)
17g.31261736C>GCA399000178NF1c.405C>G (p.Asp135Glu)
c.4585C>G (p.Pro1529Ala)
n.709C>G
c.594C>G
n.1248C>G
c.4633C>G (p.Pro1545Ala)
c.4603C>G (p.Pro1535Ala)
c.4540C>G (p.Pro1514Ala)
c.3538C>G (p.Pro1180Ala)
c.1119C>G
c.1056C>G
n.3076C>G
c.4642C>G (p.Pro1548Ala)
c.4594C>G (p.Pro1532Ala)
c.4570C>G (p.Pro1524Ala)
c.4630C>G (p.Pro1544Ala)
 dbSNP
17g.31261736C>TCA399000176NF1c.405C>T (p.Asp135=)
c.4585C>T (p.Pro1529Ser)
n.709C>T
c.594C>T
n.1248C>T
c.4633C>T (p.Pro1545Ser)
c.4603C>T (p.Pro1535Ser)
c.4540C>T (p.Pro1514Ser)
c.3538C>T (p.Pro1180Ser)
c.1119C>T
c.1056C>T
n.3076C>T
c.4642C>T (p.Pro1548Ser)
c.4594C>T (p.Pro1532Ser)
c.4570C>T (p.Pro1524Ser)
c.4630C>T (p.Pro1544Ser)
 dbSNP gnomAD v4
17g.31261737delCA2697559749NF1c.406del (p.Leu136PhefsTer2)
c.4586del (p.Pro1529LeufsTer?)
n.710del
c.595del
n.1249del
c.4634del (p.Pro1545LeufsTer?)
c.4604del (p.Pro1535LeufsTer?)
c.4541del (p.Pro1514LeufsTer?)
c.3539del (p.Pro1180LeufsTer?)
c.1120del
c.1057del
n.3077del
c.4643del (p.Pro1548LeufsTer?)
c.4595del (p.Pro1532LeufsTer?)
c.4571del (p.Pro1524LeufsTer?)
c.4631del (p.Pro1544LeufsTer?)
 ClinVar
17g.31261737C>ACA399000180NF1c.406C>A (p.Leu136Ile)
c.4586C>A (p.Pro1529His)
n.710C>A
c.595C>A
n.1249C>A
c.4634C>A (p.Pro1545His)
c.4604C>A (p.Pro1535His)
c.4541C>A (p.Pro1514His)
c.3539C>A (p.Pro1180His)
c.1120C>A
c.1057C>A
n.3077C>A
c.4643C>A (p.Pro1548His)
c.4595C>A (p.Pro1532His)
c.4571C>A (p.Pro1524His)
c.4631C>A (p.Pro1544His)
17g.31261737C>GCA399000181NF1c.406C>G (p.Leu136Val)
c.4586C>G (p.Pro1529Arg)
n.710C>G
c.595C>G
n.1249C>G
c.4634C>G (p.Pro1545Arg)
c.4604C>G (p.Pro1535Arg)
c.4541C>G (p.Pro1514Arg)
c.3539C>G (p.Pro1180Arg)
c.1120C>G
c.1057C>G
n.3077C>G
c.4643C>G (p.Pro1548Arg)
c.4595C>G (p.Pro1532Arg)
c.4571C>G (p.Pro1524Arg)
c.4631C>G (p.Pro1544Arg)
17g.31261737C>TCA399000183NF1c.406C>T (p.Leu136Phe)
c.4586C>T (p.Pro1529Leu)
n.710C>T
c.595C>T
n.1249C>T
c.4634C>T (p.Pro1545Leu)
c.4604C>T (p.Pro1535Leu)
c.4541C>T (p.Pro1514Leu)
c.3539C>T (p.Pro1180Leu)
c.1120C>T
c.1057C>T
n.3077C>T
c.4643C>T (p.Pro1548Leu)
c.4595C>T (p.Pro1532Leu)
c.4571C>T (p.Pro1524Leu)
c.4631C>T (p.Pro1544Leu)
17g.31261737_31261739delCA2580093292NF1c.406_408del (p.Leu136del)
c.4586_4588del (p.Pro1529_Phe1530delinsLeu)
n.710_712del
c.595_597del
n.1249_1251del
c.4634_4636del (p.Pro1545_Phe1546delinsLeu)
c.4604_4606del (p.Pro1535_Phe1536delinsLeu)
c.4541_4543del (p.Pro1514_Phe1515delinsLeu)
c.3539_3541del (p.Pro1180_Phe1181delinsLeu)
c.1120_1122del
c.1057_1059del
n.3077_3079del
c.4643_4645del (p.Pro1548_Phe1549delinsLeu)
c.4595_4597del (p.Pro1532_Phe1533delinsLeu)
c.4571_4573del (p.Pro1524_Phe1525delinsLeu)
c.4631_4633del (p.Pro1544_Phe1545delinsLeu)
 ClinVar
17g.31261738T>ACA499233846NF1c.407T>A (p.Leu136His)
c.4587T>A (p.Pro1529=)
n.711T>A
c.596T>A
n.1250T>A
c.4635T>A (p.Pro1545=)
c.4605T>A (p.Pro1535=)
c.4542T>A (p.Pro1514=)
c.3540T>A (p.Pro1180=)
c.1121T>A
c.1058T>A
n.3078T>A
c.4644T>A (p.Pro1548=)
c.4596T>A (p.Pro1532=)
c.4572T>A (p.Pro1524=)
c.4632T>A (p.Pro1544=)
 dbSNP
17g.31261738T>CCA499233847NF1c.407T>C (p.Leu136Pro)
c.4587T>C (p.Pro1529=)
n.711T>C
c.596T>C
n.1250T>C
c.4635T>C (p.Pro1545=)
c.4605T>C (p.Pro1535=)
c.4542T>C (p.Pro1514=)
c.3540T>C (p.Pro1180=)
c.1121T>C
c.1058T>C
n.3078T>C
c.4644T>C (p.Pro1548=)
c.4596T>C (p.Pro1532=)
c.4572T>C (p.Pro1524=)
c.4632T>C (p.Pro1544=)
 dbSNP
17g.31261738T>GCA499233848NF1c.407T>G (p.Leu136Arg)
c.4587T>G (p.Pro1529=)
n.711T>G
c.596T>G
n.1250T>G
c.4635T>G (p.Pro1545=)
c.4605T>G (p.Pro1535=)
c.4542T>G (p.Pro1514=)
c.3540T>G (p.Pro1180=)
c.1121T>G
c.1058T>G
n.3078T>G
c.4644T>G (p.Pro1548=)
c.4596T>G (p.Pro1532=)
c.4572T>G (p.Pro1524=)
c.4632T>G (p.Pro1544=)
17g.31261741dupCA2580093294NF1c.410dup (p.Leu137PhefsTer?)
c.4590dup (p.Asp1531Ter)
n.714dup
c.599dup
n.1253dup
c.4638dup (p.Asp1547Ter)
c.4608dup (p.Asp1537Ter)
c.4545dup (p.Asp1516Ter)
c.3543dup (p.Asp1182Ter)
c.1124dup
c.1061dup
n.3081dup
c.4647dup (p.Asp1550Ter)
c.4599dup (p.Asp1534Ter)
c.4575dup (p.Asp1526Ter)
c.4635dup (p.Asp1546Ter)
 ClinVar
17g.31261741delCA2018007658NF1c.410del (p.Leu137Ter)
c.4590del (p.Phe1530LeufsTer?)
n.714del
c.599del
n.1253del
c.4638del (p.Phe1546LeufsTer?)
c.4608del (p.Phe1536LeufsTer?)
c.4545del (p.Phe1515LeufsTer?)
c.3543del (p.Phe1181LeufsTer?)
c.1124del
c.1061del
n.3081del
c.4647del (p.Phe1549LeufsTer?)
c.4599del (p.Phe1533LeufsTer?)
c.4575del (p.Phe1525LeufsTer?)
c.4635del (p.Phe1545LeufsTer?)
 ClinVar dbSNP
17g.31261739T>ACA399000185NF1c.408T>A (p.Leu136=)
c.4588T>A (p.Phe1530Ile)
n.712T>A
c.597T>A
n.1251T>A
c.4636T>A (p.Phe1546Ile)
c.4606T>A (p.Phe1536Ile)
c.4543T>A (p.Phe1515Ile)
c.3541T>A (p.Phe1181Ile)
c.1122T>A
c.1059T>A
n.3079T>A
c.4645T>A (p.Phe1549Ile)
c.4597T>A (p.Phe1533Ile)
c.4573T>A (p.Phe1525Ile)
c.4633T>A (p.Phe1545Ile)
17g.31261739T>CCA399000186NF1c.408T>C (p.Leu136=)
c.4588T>C (p.Phe1530Leu)
n.712T>C
c.597T>C
n.1251T>C
c.4636T>C (p.Phe1546Leu)
c.4606T>C (p.Phe1536Leu)
c.4543T>C (p.Phe1515Leu)
c.3541T>C (p.Phe1181Leu)
c.1122T>C
c.1059T>C
n.3079T>C
c.4645T>C (p.Phe1549Leu)
c.4597T>C (p.Phe1533Leu)
c.4573T>C (p.Phe1525Leu)
c.4633T>C (p.Phe1545Leu)
17g.31261739T>GCA399000188NF1c.408T>G (p.Leu136=)
c.4588T>G (p.Phe1530Val)
n.712T>G
c.597T>G
n.1251T>G
c.4636T>G (p.Phe1546Val)
c.4606T>G (p.Phe1536Val)
c.4543T>G (p.Phe1515Val)
c.3541T>G (p.Phe1181Val)
c.1122T>G
c.1059T>G
n.3079T>G
c.4645T>G (p.Phe1549Val)
c.4597T>G (p.Phe1533Val)
c.4573T>G (p.Phe1525Val)
c.4633T>G (p.Phe1545Val)
 ClinVar COSMIC COSMIC
17g.31261740T>ACA399000192NF1c.409T>A (p.Leu137Met)
c.4589T>A (p.Phe1530Tyr)
n.713T>A
c.598T>A
n.1252T>A
c.4637T>A (p.Phe1546Tyr)
c.4607T>A (p.Phe1536Tyr)
c.4544T>A (p.Phe1515Tyr)
c.3542T>A (p.Phe1181Tyr)
c.1123T>A
c.1060T>A
n.3080T>A
c.4646T>A (p.Phe1549Tyr)
c.4598T>A (p.Phe1533Tyr)
c.4574T>A (p.Phe1525Tyr)
c.4634T>A (p.Phe1545Tyr)
17g.31261740T>CCA399000190NF1c.409T>C (p.Leu137=)
c.4589T>C (p.Phe1530Ser)
n.713T>C
c.598T>C
n.1252T>C
c.4637T>C (p.Phe1546Ser)
c.4607T>C (p.Phe1536Ser)
c.4544T>C (p.Phe1515Ser)
c.3542T>C (p.Phe1181Ser)
c.1123T>C
c.1060T>C
n.3080T>C
c.4646T>C (p.Phe1549Ser)
c.4598T>C (p.Phe1533Ser)
c.4574T>C (p.Phe1525Ser)
c.4634T>C (p.Phe1545Ser)
 ClinVar
17g.31261740T>GCA399000191NF1c.409T>G (p.Leu137Val)
c.4589T>G (p.Phe1530Cys)
n.713T>G
c.598T>G
n.1252T>G
c.4637T>G (p.Phe1546Cys)
c.4607T>G (p.Phe1536Cys)
c.4544T>G (p.Phe1515Cys)
c.3542T>G (p.Phe1181Cys)
c.1123T>G
c.1060T>G
n.3080T>G
c.4646T>G (p.Phe1549Cys)
c.4598T>G (p.Phe1533Cys)
c.4574T>G (p.Phe1525Cys)
c.4634T>G (p.Phe1545Cys)
17g.31261741T>ACA399000193NF1c.410T>A (p.Leu137Ter)
c.4590T>A (p.Phe1530Leu)
n.714T>A
c.599T>A
n.1253T>A
c.4638T>A (p.Phe1546Leu)
c.4608T>A (p.Phe1536Leu)
c.4545T>A (p.Phe1515Leu)
c.3543T>A (p.Phe1181Leu)
c.1124T>A
c.1061T>A
n.3081T>A
c.4647T>A (p.Phe1549Leu)
c.4599T>A (p.Phe1533Leu)
c.4575T>A (p.Phe1525Leu)
c.4635T>A (p.Phe1545Leu)
17g.31261741T>CCA499233849NF1c.410T>C (p.Leu137Ser)
c.4590T>C (p.Phe1530=)
n.714T>C
c.599T>C
n.1253T>C
c.4638T>C (p.Phe1546=)
c.4608T>C (p.Phe1536=)
c.4545T>C (p.Phe1515=)
c.3543T>C (p.Phe1181=)
c.1124T>C
c.1061T>C
n.3081T>C
c.4647T>C (p.Phe1549=)
c.4599T>C (p.Phe1533=)
c.4575T>C (p.Phe1525=)
c.4635T>C (p.Phe1545=)
17g.31261741T>GCA399000194NF1c.410T>G (p.Leu137Trp)
c.4590T>G (p.Phe1530Leu)
n.714T>G
c.599T>G
n.1253T>G
c.4638T>G (p.Phe1546Leu)
c.4608T>G (p.Phe1536Leu)
c.4545T>G (p.Phe1515Leu)
c.3543T>G (p.Phe1181Leu)
c.1124T>G
c.1061T>G
n.3081T>G
c.4647T>G (p.Phe1549Leu)
c.4599T>G (p.Phe1533Leu)
c.4575T>G (p.Phe1525Leu)
c.4635T>G (p.Phe1545Leu)
17g.31261741_31261744delinsCCA2499224146NF1c.410_413delinsC (p.Leu137_Ile138delinsSer)
c.4590_4593delinsC (p.Asp1531del)
n.714_717delinsC
c.599_602delinsC
n.1253_1256delinsC
c.4638_4641delinsC (p.Asp1547del)
c.4608_4611delinsC (p.Asp1537del)
c.4545_4548delinsC (p.Asp1516del)
c.3543_3546delinsC (p.Asp1182del)
c.1124_1127delinsC
c.1061_1064delinsC
n.3081_3084delinsC
c.4647_4650delinsC (p.Asp1550del)
c.4599_4602delinsC (p.Asp1534del)
c.4575_4578delinsC (p.Asp1526del)
c.4635_4638delinsC (p.Asp1546del)
 ClinVar dbSNP
17g.31261742G>ACA399000195NF1c.411G>A (p.Leu137=)
c.4591G>A (p.Asp1531Asn)
n.715G>A
c.600G>A
n.1254G>A
c.4639G>A (p.Asp1547Asn)
c.4609G>A (p.Asp1537Asn)
c.4546G>A (p.Asp1516Asn)
c.3544G>A (p.Asp1182Asn)
c.1125G>A
c.1062G>A
n.3082G>A
c.4648G>A (p.Asp1550Asn)
c.4600G>A (p.Asp1534Asn)
c.4576G>A (p.Asp1526Asn)
c.4636G>A (p.Asp1546Asn)
17g.31261742G>CCA399000196NF1c.411G>C (p.Leu137Phe)
c.4591G>C (p.Asp1531His)
n.715G>C
c.600G>C
n.1254G>C
c.4639G>C (p.Asp1547His)
c.4609G>C (p.Asp1537His)
c.4546G>C (p.Asp1516His)
c.3544G>C (p.Asp1182His)
c.1125G>C
c.1062G>C
n.3082G>C
c.4648G>C (p.Asp1550His)
c.4600G>C (p.Asp1534His)
c.4576G>C (p.Asp1526His)
c.4636G>C (p.Asp1546His)
 dbSNP COSMIC
17g.31261742G=CA2255577400NF1c.411G= (p.Leu137=)
c.4591G= (p.Asp1531=)
n.715G=
c.600G=
n.1254G=
c.4639G= (p.Asp1547=)
c.4609G= (p.Asp1537=)
c.4546G= (p.Asp1516=)
c.3544G= (p.Asp1182=)
c.1125G=
c.1062G=
n.3082G=
c.4648G= (p.Asp1550=)
c.4600G= (p.Asp1534=)
c.4576G= (p.Asp1526=)
c.4636G= (p.Asp1546=)
17g.31261742G>TCA399000197NF1c.411G>T (p.Leu137Phe)
c.4591G>T (p.Asp1531Tyr)
n.715G>T
c.600G>T
n.1254G>T
c.4639G>T (p.Asp1547Tyr)
c.4609G>T (p.Asp1537Tyr)
c.4546G>T (p.Asp1516Tyr)
c.3544G>T (p.Asp1182Tyr)
c.1125G>T
c.1062G>T
n.3082G>T
c.4648G>T (p.Asp1550Tyr)
c.4600G>T (p.Asp1534Tyr)
c.4576G>T (p.Asp1526Tyr)
c.4636G>T (p.Asp1546Tyr)
17g.31261743A>CCA399000199NF1c.412A>C (p.Ile138Leu)
c.4592A>C (p.Asp1531Ala)
n.716A>C
c.601A>C
n.1255A>C
c.4640A>C (p.Asp1547Ala)
c.4610A>C (p.Asp1537Ala)
c.4547A>C (p.Asp1516Ala)
c.3545A>C (p.Asp1182Ala)
c.1126A>C
c.1063A>C
n.3083A>C
c.4649A>C (p.Asp1550Ala)
c.4601A>C (p.Asp1534Ala)
c.4577A>C (p.Asp1526Ala)
c.4637A>C (p.Asp1546Ala)
17g.31261743A>GCA399000202NF1c.412A>G (p.Ile138Val)
c.4592A>G (p.Asp1531Gly)
n.716A>G
c.601A>G
n.1255A>G
c.4640A>G (p.Asp1547Gly)
c.4610A>G (p.Asp1537Gly)
c.4547A>G (p.Asp1516Gly)
c.3545A>G (p.Asp1182Gly)
c.1126A>G
c.1063A>G
n.3083A>G
c.4649A>G (p.Asp1550Gly)
c.4601A>G (p.Asp1534Gly)
c.4577A>G (p.Asp1526Gly)
c.4637A>G (p.Asp1546Gly)
17g.31261743A>TCA399000200NF1c.412A>T (p.Ile138Leu)
c.4592A>T (p.Asp1531Val)
n.716A>T
c.601A>T
n.1255A>T
c.4640A>T (p.Asp1547Val)
c.4610A>T (p.Asp1537Val)
c.4547A>T (p.Asp1516Val)
c.3545A>T (p.Asp1182Val)
c.1126A>T
c.1063A>T
n.3083A>T
c.4649A>T (p.Asp1550Val)
c.4601A>T (p.Asp1534Val)
c.4577A>T (p.Asp1526Val)
c.4637A>T (p.Asp1546Val)
 dbSNP
17g.31261743dupCA625477252NF1c.412dup (p.Ile138AsnfsTer?)
c.4592dup (p.Asp1531GlufsTer2)
n.716dup
c.601dup
n.1255dup
c.4640dup (p.Asp1547GlufsTer2)
c.4610dup (p.Asp1537GlufsTer2)
c.4547dup (p.Asp1516GlufsTer2)
c.3545dup (p.Asp1182GlufsTer2)
c.1126dup
c.1063dup
n.3083dup
c.4649dup (p.Asp1550GlufsTer2)
c.4601dup (p.Asp1534GlufsTer2)
c.4577dup (p.Asp1526GlufsTer2)
c.4637dup (p.Asp1546GlufsTer2)
 dbSNP gnomAD v2
17g.31261744_31261745delCA2582342157NF1c.413_414del (p.Ile138LysfsTer?)
c.4593_4594del (p.Asp1531GlufsTer26)
n.717_718del
c.602_603del
n.1256_1257del
c.4641_4642del (p.Asp1547GlufsTer26)
c.4611_4612del (p.Asp1537GlufsTer26)
c.4548_4549del (p.Asp1516GlufsTer26)
c.3546_3547del (p.Asp1182GlufsTer26)
c.1127_1128del
c.1064_1065del
n.3084_3085del
c.4650_4651del (p.Asp1550GlufsTer26)
c.4602_4603del (p.Asp1534GlufsTer26)
c.4578_4579del (p.Asp1526GlufsTer26)
c.4638_4639del (p.Asp1546GlufsTer26)
 ClinVar
17g.31261744T>ACA399000204NF1c.413T>A (p.Ile138Lys)
c.4593T>A (p.Asp1531Glu)
n.717T>A
c.602T>A
n.1256T>A
c.4641T>A (p.Asp1547Glu)
c.4611T>A (p.Asp1537Glu)
c.4548T>A (p.Asp1516Glu)
c.3546T>A (p.Asp1182Glu)
c.1127T>A
c.1064T>A
n.3084T>A
c.4650T>A (p.Asp1550Glu)
c.4602T>A (p.Asp1534Glu)
c.4578T>A (p.Asp1526Glu)
c.4638T>A (p.Asp1546Glu)
17g.31261744T>CCA499233850NF1c.413T>C (p.Ile138Thr)
c.4593T>C (p.Asp1531=)
n.717T>C
c.602T>C
n.1256T>C
c.4641T>C (p.Asp1547=)
c.4611T>C (p.Asp1537=)
c.4548T>C (p.Asp1516=)
c.3546T>C (p.Asp1182=)
c.1127T>C
c.1064T>C
n.3084T>C
c.4650T>C (p.Asp1550=)
c.4602T>C (p.Asp1534=)
c.4578T>C (p.Asp1526=)
c.4638T>C (p.Asp1546=)
17g.31261744T>GCA399000205NF1c.413T>G (p.Ile138Arg)
c.4593T>G (p.Asp1531Glu)
n.717T>G
c.602T>G
n.1256T>G
c.4641T>G (p.Asp1547Glu)
c.4611T>G (p.Asp1537Glu)
c.4548T>G (p.Asp1516Glu)
c.3546T>G (p.Asp1182Glu)
c.1127T>G
c.1064T>G
n.3084T>G
c.4650T>G (p.Asp1550Glu)
c.4602T>G (p.Asp1534Glu)
c.4578T>G (p.Asp1526Glu)
c.4638T>G (p.Asp1546Glu)
17g.31261745A>CCA399000207NF1c.414A>C (p.Ile138=)
c.4594A>C (p.Lys1532Gln)
n.718A>C
c.603A>C
n.1257A>C
c.4642A>C (p.Lys1548Gln)
c.4612A>C (p.Lys1538Gln)
c.4549A>C (p.Lys1517Gln)
c.3547A>C (p.Lys1183Gln)
c.1128A>C
c.1065A>C
n.3085A>C
c.4651A>C (p.Lys1551Gln)
c.4603A>C (p.Lys1535Gln)
c.4579A>C (p.Lys1527Gln)
c.4639A>C (p.Lys1547Gln)
17g.31261745A>GCA399000208NF1c.414A>G (p.Ile138Met)
c.4594A>G (p.Lys1532Glu)
n.718A>G
c.603A>G
n.1257A>G
c.4642A>G (p.Lys1548Glu)
c.4612A>G (p.Lys1538Glu)
c.4549A>G (p.Lys1517Glu)
c.3547A>G (p.Lys1183Glu)
c.1128A>G
c.1065A>G
n.3085A>G
c.4651A>G (p.Lys1551Glu)
c.4603A>G (p.Lys1535Glu)
c.4579A>G (p.Lys1527Glu)
c.4639A>G (p.Lys1547Glu)
 dbSNP
17g.31261745A>TCA399000211NF1c.414A>T (p.Ile138=)
c.4594A>T (p.Lys1532Ter)
n.718A>T
c.603A>T
n.1257A>T
c.4642A>T (p.Lys1548Ter)
c.4612A>T (p.Lys1538Ter)
c.4549A>T (p.Lys1517Ter)
c.3547A>T (p.Lys1183Ter)
c.1128A>T
c.1065A>T
n.3085A>T
c.4651A>T (p.Lys1551Ter)
c.4603A>T (p.Lys1535Ter)
c.4579A>T (p.Lys1527Ter)
c.4639A>T (p.Lys1547Ter)
 ClinVar dbSNP COSMIC COSMIC
17g.31261746delCA2739290938NF1c.415del (p.Arg139AspfsTer25)
c.4595del (p.Lys1532ArgfsTer?)
n.719del
c.604del
n.1258del
c.4643del (p.Lys1548ArgfsTer?)
c.4613del (p.Lys1538ArgfsTer?)
c.4550del (p.Lys1517ArgfsTer?)
c.3548del (p.Lys1183ArgfsTer?)
c.1129del
c.1066del
n.3086del
c.4652del (p.Lys1551ArgfsTer?)
c.4604del (p.Lys1535ArgfsTer?)
c.4580del (p.Lys1527ArgfsTer?)
c.4640del (p.Lys1547ArgfsTer?)
17g.31261746A>CCA399000213NF1c.415A>C (p.Arg139=)
c.4595A>C (p.Lys1532Thr)
n.719A>C
c.604A>C
n.1258A>C
c.4643A>C (p.Lys1548Thr)
c.4613A>C (p.Lys1538Thr)
c.4550A>C (p.Lys1517Thr)
c.3548A>C (p.Lys1183Thr)
c.1129A>C
c.1066A>C
n.3086A>C
c.4652A>C (p.Lys1551Thr)
c.4604A>C (p.Lys1535Thr)
c.4580A>C (p.Lys1527Thr)
c.4640A>C (p.Lys1547Thr)
17g.31261746A>GCA399000215NF1c.415A>G (p.Arg139Gly)
c.4595A>G (p.Lys1532Arg)
n.719A>G
c.604A>G
n.1258A>G
c.4643A>G (p.Lys1548Arg)
c.4613A>G (p.Lys1538Arg)
c.4550A>G (p.Lys1517Arg)
c.3548A>G (p.Lys1183Arg)
c.1129A>G
c.1066A>G
n.3086A>G
c.4652A>G (p.Lys1551Arg)
c.4604A>G (p.Lys1535Arg)
c.4580A>G (p.Lys1527Arg)
c.4640A>G (p.Lys1547Arg)
17g.31261746A>TCA399000217NF1c.415A>T (p.Arg139Ter)
c.4595A>T (p.Lys1532Met)
n.719A>T
c.604A>T
n.1258A>T
c.4643A>T (p.Lys1548Met)
c.4613A>T (p.Lys1538Met)
c.4550A>T (p.Lys1517Met)
c.3548A>T (p.Lys1183Met)
c.1129A>T
c.1066A>T
n.3086A>T
c.4652A>T (p.Lys1551Met)
c.4604A>T (p.Lys1535Met)
c.4580A>T (p.Lys1527Met)
c.4640A>T (p.Lys1547Met)
17g.31261747G>ACA499233851NF1c.416G>A (p.Arg139Lys)
c.4596G>A (p.Lys1532=)
n.720G>A
c.605G>A
n.1259G>A
c.4644G>A (p.Lys1548=)
c.4614G>A (p.Lys1538=)
c.4551G>A (p.Lys1517=)
c.3549G>A (p.Lys1183=)
c.1130G>A
c.1067G>A
n.3087G>A
c.4653G>A (p.Lys1551=)
c.4605G>A (p.Lys1535=)
c.4581G>A (p.Lys1527=)
c.4641G>A (p.Lys1547=)
17g.31261747G>CCA399000219NF1c.416G>C (p.Arg139Thr)
c.4596G>C (p.Lys1532Asn)
n.720G>C
c.605G>C
n.1259G>C
c.4644G>C (p.Lys1548Asn)
c.4614G>C (p.Lys1538Asn)
c.4551G>C (p.Lys1517Asn)
c.3549G>C (p.Lys1183Asn)
c.1130G>C
c.1067G>C
n.3087G>C
c.4653G>C (p.Lys1551Asn)
c.4605G>C (p.Lys1535Asn)
c.4581G>C (p.Lys1527Asn)
c.4641G>C (p.Lys1547Asn)
 dbSNP
17g.31261747G>TCA399000221NF1c.416G>T (p.Arg139Ile)
c.4596G>T (p.Lys1532Asn)
n.720G>T
c.605G>T
n.1259G>T
c.4644G>T (p.Lys1548Asn)
c.4614G>T (p.Lys1538Asn)
c.4551G>T (p.Lys1517Asn)
c.3549G>T (p.Lys1183Asn)
c.1130G>T
c.1067G>T
n.3087G>T
c.4653G>T (p.Lys1551Asn)
c.4605G>T (p.Lys1535Asn)
c.4581G>T (p.Lys1527Asn)
c.4641G>T (p.Lys1547Asn)
17g.31261748A=CA2255577401NF1c.417A= (p.Arg139=)
c.4597A= (p.Met1533=)
n.721A=
c.606A=
n.1260A=
c.4645A= (p.Met1549=)
c.4615A= (p.Met1539=)
c.4552A= (p.Met1518=)
c.3550A= (p.Met1184=)
c.1131A=
c.1068A=
n.3088A=
c.4654A= (p.Met1552=)
c.4606A= (p.Met1536=)
c.4582A= (p.Met1528=)
c.4642A= (p.Met1548=)
17g.31261748A>CCA399000223NF1c.417A>C (p.Arg139Ser)
c.4597A>C (p.Met1533Leu)
n.721A>C
c.606A>C
n.1260A>C
c.4645A>C (p.Met1549Leu)
c.4615A>C (p.Met1539Leu)
c.4552A>C (p.Met1518Leu)
c.3550A>C (p.Met1184Leu)
c.1131A>C
c.1068A>C
n.3088A>C
c.4654A>C (p.Met1552Leu)
c.4606A>C (p.Met1536Leu)
c.4582A>C (p.Met1528Leu)
c.4642A>C (p.Met1548Leu)
17g.31261748A>GCA399000226NF1c.417A>G (p.Arg139=)
c.4597A>G (p.Met1533Val)
n.721A>G
c.606A>G
n.1260A>G
c.4645A>G (p.Met1549Val)
c.4615A>G (p.Met1539Val)
c.4552A>G (p.Met1518Val)
c.3550A>G (p.Met1184Val)
c.1131A>G
c.1068A>G
n.3088A>G
c.4654A>G (p.Met1552Val)
c.4606A>G (p.Met1536Val)
c.4582A>G (p.Met1528Val)
c.4642A>G (p.Met1548Val)
 ClinVar dbSNP
17g.31261748A>TCA8486450NF1c.417A>T (p.Arg139Ser)
c.4597A>T (p.Met1533Leu)
n.721A>T
c.606A>T
n.1260A>T
c.4645A>T (p.Met1549Leu)
c.4615A>T (p.Met1539Leu)
c.4552A>T (p.Met1518Leu)
c.3550A>T (p.Met1184Leu)
c.1131A>T
c.1068A>T
n.3088A>T
c.4654A>T (p.Met1552Leu)
c.4606A>T (p.Met1536Leu)
c.4582A>T (p.Met1528Leu)
c.4642A>T (p.Met1548Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31261749T>ACA399000228NF1c.418T>A (p.Trp140Arg)
c.4598T>A (p.Met1533Lys)
n.722T>A
c.607T>A
n.1261T>A
c.4646T>A (p.Met1549Lys)
c.4616T>A (p.Met1539Lys)
c.4553T>A (p.Met1518Lys)
c.3551T>A (p.Met1184Lys)
c.1132T>A
c.1069T>A
n.3089T>A
c.4655T>A (p.Met1552Lys)
c.4607T>A (p.Met1536Lys)
c.4583T>A (p.Met1528Lys)
c.4643T>A (p.Met1548Lys)
 ClinVar dbSNP
17g.31261749T>CCA399000232NF1c.418T>C (p.Trp140Arg)
c.4598T>C (p.Met1533Thr)
n.722T>C
c.607T>C
n.1261T>C
c.4646T>C (p.Met1549Thr)
c.4616T>C (p.Met1539Thr)
c.4553T>C (p.Met1518Thr)
c.3551T>C (p.Met1184Thr)
c.1132T>C
c.1069T>C
n.3089T>C
c.4655T>C (p.Met1552Thr)
c.4607T>C (p.Met1536Thr)
c.4583T>C (p.Met1528Thr)
c.4643T>C (p.Met1548Thr)
 ClinVar dbSNP
17g.31261749T>GCA399000230NF1c.418T>G (p.Trp140Gly)
c.4598T>G (p.Met1533Arg)
n.722T>G
c.607T>G
n.1261T>G
c.4646T>G (p.Met1549Arg)
c.4616T>G (p.Met1539Arg)
c.4553T>G (p.Met1518Arg)
c.3551T>G (p.Met1184Arg)
c.1132T>G
c.1069T>G
n.3089T>G
c.4655T>G (p.Met1552Arg)
c.4607T>G (p.Met1536Arg)
c.4583T>G (p.Met1528Arg)
c.4643T>G (p.Met1548Arg)
17g.31261749T=CA2255577403NF1c.418T= (p.Trp140=)
c.4598T= (p.Met1533=)
n.722T=
c.607T=
n.1261T=
c.4646T= (p.Met1549=)
c.4616T= (p.Met1539=)
c.4553T= (p.Met1518=)
c.3551T= (p.Met1184=)
c.1132T=
c.1069T=
n.3089T=
c.4655T= (p.Met1552=)
c.4607T= (p.Met1536=)
c.4583T= (p.Met1528=)
c.4643T= (p.Met1548=)
17g.31261749_31261750delinsTGCA2255577402NF1c.418_419delinsTG (p.Trp140=)
c.4598_4599delinsTG (p.Met1533=)
n.722_723delinsTG
c.607_608delinsTG
n.1261_1262delinsTG
c.4646_4647delinsTG (p.Met1549=)
c.4616_4617delinsTG (p.Met1539=)
c.4553_4554delinsTG (p.Met1518=)
c.3551_3552delinsTG (p.Met1184=)
c.1132_1133delinsTG
c.1069_1070delinsTG
n.3089_3090delinsTG
c.4655_4656delinsTG (p.Met1552=)
c.4607_4608delinsTG (p.Met1536=)
c.4583_4584delinsTG (p.Met1528=)
c.4643_4644delinsTG (p.Met1548=)
17g.31261750G>ACA399000234NF1c.419G>A (p.Trp140Ter)
c.4599G>A (p.Met1533Ile)
n.723G>A
c.608G>A
n.1262G>A
c.4647G>A (p.Met1549Ile)
c.4617G>A (p.Met1539Ile)
c.4554G>A (p.Met1518Ile)
c.3552G>A (p.Met1184Ile)
c.1133G>A
c.1070G>A
n.3090G>A
c.4656G>A (p.Met1552Ile)
c.4608G>A (p.Met1536Ile)
c.4584G>A (p.Met1528Ile)
c.4644G>A (p.Met1548Ile)
 dbSNP
17g.31261750G>CCA399000235NF1c.419G>C (p.Trp140Ser)
c.4599G>C (p.Met1533Ile)
n.723G>C
c.608G>C
n.1262G>C
c.4647G>C (p.Met1549Ile)
c.4617G>C (p.Met1539Ile)
c.4554G>C (p.Met1518Ile)
c.3552G>C (p.Met1184Ile)
c.1133G>C
c.1070G>C
n.3090G>C
c.4656G>C (p.Met1552Ile)
c.4608G>C (p.Met1536Ile)
c.4584G>C (p.Met1528Ile)
c.4644G>C (p.Met1548Ile)
 dbSNP
17g.31261750G>TCA399000236NF1c.419G>T (p.Trp140Leu)
c.4599G>T (p.Met1533Ile)
n.723G>T
c.608G>T
n.1262G>T
c.4647G>T (p.Met1549Ile)
c.4617G>T (p.Met1539Ile)
c.4554G>T (p.Met1518Ile)
c.3552G>T (p.Met1184Ile)
c.1133G>T
c.1070G>T
n.3090G>T
c.4656G>T (p.Met1552Ile)
c.4608G>T (p.Met1536Ile)
c.4584G>T (p.Met1528Ile)
c.4644G>T (p.Met1548Ile)
 COSMIC COSMIC
17g.31261751delCA915949663NF1c.420del (p.Trp140CysfsTer24)
c.4600del (p.Ala1534GlnfsTer?)
n.724del
c.609del
n.1263del
c.4648del (p.Ala1550GlnfsTer?)
c.4618del (p.Ala1540GlnfsTer?)
c.4555del (p.Ala1519GlnfsTer?)
c.3553del (p.Ala1185GlnfsTer?)
c.1134del
c.1071del
n.3091del
c.4657del (p.Ala1553GlnfsTer?)
c.4609del (p.Ala1537GlnfsTer?)
c.4585del (p.Ala1529GlnfsTer?)
c.4645del (p.Ala1549GlnfsTer?)
 ClinVar dbSNP
17g.31261750_31261763dupCA891843828NF1c.419_432dup (p.His145GlyfsTer24)
c.4599_4612dup (p.Ala1538GlyfsTer35)
n.723_736dup
c.608_621dup
n.1262_1275dup
c.4647_4660dup (p.Ala1554GlyfsTer35)
c.4617_4630dup (p.Ala1544GlyfsTer35)
c.4554_4567dup (p.Ala1523GlyfsTer35)
c.3552_3565dup (p.Ala1189GlyfsTer35)
c.1133_1146dup
c.1070_1083dup
n.3090_3103dup
c.4656_4669dup (p.Ala1557GlyfsTer35)
c.4608_4621dup (p.Ala1541GlyfsTer35)
c.4584_4597dup (p.Ala1533GlyfsTer35)
c.4644_4657dup (p.Ala1553GlyfsTer35)
 ClinVar dbSNP
17g.31261751G>ACA399000238NF1c.420G>A (p.Trp140Ter)
c.4600G>A (p.Ala1534Thr)
n.724G>A
c.609G>A
n.1263G>A
c.4648G>A (p.Ala1550Thr)
c.4618G>A (p.Ala1540Thr)
c.4555G>A (p.Ala1519Thr)
c.3553G>A (p.Ala1185Thr)
c.1134G>A
c.1071G>A
n.3091G>A
c.4657G>A (p.Ala1553Thr)
c.4609G>A (p.Ala1537Thr)
c.4585G>A (p.Ala1529Thr)
c.4645G>A (p.Ala1549Thr)
 ClinVar dbSNP
17g.31261751G>CCA399000240NF1c.420G>C (p.Trp140Cys)
c.4600G>C (p.Ala1534Pro)
n.724G>C
c.609G>C
n.1263G>C
c.4648G>C (p.Ala1550Pro)
c.4618G>C (p.Ala1540Pro)
c.4555G>C (p.Ala1519Pro)
c.3553G>C (p.Ala1185Pro)
c.1134G>C
c.1071G>C
n.3091G>C
c.4657G>C (p.Ala1553Pro)
c.4609G>C (p.Ala1537Pro)
c.4585G>C (p.Ala1529Pro)
c.4645G>C (p.Ala1549Pro)
 ClinVar dbSNP
17g.31261751G>TCA399000241NF1c.420G>T (p.Trp140Cys)
c.4600G>T (p.Ala1534Ser)
n.724G>T
c.609G>T
n.1263G>T
c.4648G>T (p.Ala1550Ser)
c.4618G>T (p.Ala1540Ser)
c.4555G>T (p.Ala1519Ser)
c.3553G>T (p.Ala1185Ser)
c.1134G>T
c.1071G>T
n.3091G>T
c.4657G>T (p.Ala1553Ser)
c.4609G>T (p.Ala1537Ser)
c.4585G>T (p.Ala1529Ser)
c.4645G>T (p.Ala1549Ser)
 dbSNP
17g.31261751_31261755delinsGCAACCA2255577404NF1c.420_424delinsGCAAC (p.Trp140=)
c.4600_4604delinsGCAAC (p.Ala1534=)
n.724_728delinsGCAAC
c.609_613delinsGCAAC
n.1263_1267delinsGCAAC
c.4648_4652delinsGCAAC (p.Ala1550=)
c.4618_4622delinsGCAAC (p.Ala1540=)
c.4555_4559delinsGCAAC (p.Ala1519=)
c.3553_3557delinsGCAAC (p.Ala1185=)
c.1134_1138delinsGCAAC
c.1071_1075delinsGCAAC
n.3091_3095delinsGCAAC
c.4657_4661delinsGCAAC (p.Ala1553=)
c.4609_4613delinsGCAAC (p.Ala1537=)
c.4585_4589delinsGCAAC (p.Ala1529=)
c.4645_4649delinsGCAAC (p.Ala1549=)
17g.31261752delCA2697559750NF1c.421del (p.Gln141AsnfsTer23)
c.4601del (p.Ala1534GlufsTer?)
n.725del
c.610del
n.1264del
c.4649del (p.Ala1550GlufsTer?)
c.4619del (p.Ala1540GlufsTer?)
c.4556del (p.Ala1519GlufsTer?)
c.3554del (p.Ala1185GlufsTer?)
c.1135del
c.1072del
n.3092del
c.4658del (p.Ala1553GlufsTer?)
c.4610del (p.Ala1537GlufsTer?)
c.4586del (p.Ala1529GlufsTer?)
c.4646del (p.Ala1549GlufsTer?)
 ClinVar
17g.31261752C>ACA399000246NF1c.421C>A (p.Gln141Lys)
c.4601C>A (p.Ala1534Glu)
n.725C>A
c.610C>A
n.1264C>A
c.4649C>A (p.Ala1550Glu)
c.4619C>A (p.Ala1540Glu)
c.4556C>A (p.Ala1519Glu)
c.3554C>A (p.Ala1185Glu)
c.1135C>A
c.1072C>A
n.3092C>A
c.4658C>A (p.Ala1553Glu)
c.4610C>A (p.Ala1537Glu)
c.4586C>A (p.Ala1529Glu)
c.4646C>A (p.Ala1549Glu)
 ClinVar dbSNP
17g.31261752C>GCA399000245NF1c.421C>G (p.Gln141Glu)
c.4601C>G (p.Ala1534Gly)
n.725C>G
c.610C>G
n.1264C>G
c.4649C>G (p.Ala1550Gly)
c.4619C>G (p.Ala1540Gly)
c.4556C>G (p.Ala1519Gly)
c.3554C>G (p.Ala1185Gly)
c.1135C>G
c.1072C>G
n.3092C>G
c.4658C>G (p.Ala1553Gly)
c.4610C>G (p.Ala1537Gly)
c.4586C>G (p.Ala1529Gly)
c.4646C>G (p.Ala1549Gly)
 dbSNP
17g.31261752C>TCA399000243NF1c.421C>T (p.Gln141Ter)
c.4601C>T (p.Ala1534Val)
n.725C>T
c.610C>T
n.1264C>T
c.4649C>T (p.Ala1550Val)
c.4619C>T (p.Ala1540Val)
c.4556C>T (p.Ala1519Val)
c.3554C>T (p.Ala1185Val)
c.1135C>T
c.1072C>T
n.3092C>T
c.4658C>T (p.Ala1553Val)
c.4610C>T (p.Ala1537Val)
c.4586C>T (p.Ala1529Val)
c.4646C>T (p.Ala1549Val)
 dbSNP
17g.31261752_31261753delinsCACA2255577406NF1c.421_422delinsCA (p.Gln141=)
c.4601_4602delinsCA (p.Ala1534=)
n.725_726delinsCA
c.610_611delinsCA
n.1264_1265delinsCA
c.4649_4650delinsCA (p.Ala1550=)
c.4619_4620delinsCA (p.Ala1540=)
c.4556_4557delinsCA (p.Ala1519=)
c.3554_3555delinsCA (p.Ala1185=)
c.1135_1136delinsCA
c.1072_1073delinsCA
n.3092_3093delinsCA
c.4658_4659delinsCA (p.Ala1553=)
c.4610_4611delinsCA (p.Ala1537=)
c.4586_4587delinsCA (p.Ala1529=)
c.4646_4647delinsCA (p.Ala1549=)
17g.31261752_31261755delinsAACA2255577405NF1c.421_424delinsAA (p.Gln141LysfsTer?)
c.4601_4604delinsAA (p.Ala1534GlufsTer23)
n.725_728delinsAA
c.610_613delinsAA
n.1264_1267delinsAA
c.4649_4652delinsAA (p.Ala1550GlufsTer23)
c.4619_4622delinsAA (p.Ala1540GlufsTer23)
c.4556_4559delinsAA (p.Ala1519GlufsTer23)
c.3554_3557delinsAA (p.Ala1185GlufsTer23)
c.1135_1138delinsAA
c.1072_1075delinsAA
n.3092_3095delinsAA
c.4658_4661delinsAA (p.Ala1553GlufsTer23)
c.4610_4613delinsAA (p.Ala1537GlufsTer23)
c.4586_4589delinsAA (p.Ala1529GlufsTer23)
c.4646_4649delinsAA (p.Ala1549GlufsTer23)
 ClinVar dbSNP
17g.31261753A>CCA499233852NF1c.422A>C (p.Gln141Pro)
c.4602A>C (p.Ala1534=)
n.726A>C
c.611A>C
n.1265A>C
c.4650A>C (p.Ala1550=)
c.4620A>C (p.Ala1540=)
c.4557A>C (p.Ala1519=)
c.3555A>C (p.Ala1185=)
c.1136A>C
c.1073A>C
n.3093A>C
c.4659A>C (p.Ala1553=)
c.4611A>C (p.Ala1537=)
c.4587A>C (p.Ala1529=)
c.4647A>C (p.Ala1549=)
17g.31261753A>GCA499233853NF1c.422A>G (p.Gln141Arg)
c.4602A>G (p.Ala1534=)
n.726A>G
c.611A>G
n.1265A>G
c.4650A>G (p.Ala1550=)
c.4620A>G (p.Ala1540=)
c.4557A>G (p.Ala1519=)
c.3555A>G (p.Ala1185=)
c.1136A>G
c.1073A>G
n.3093A>G
c.4659A>G (p.Ala1553=)
c.4611A>G (p.Ala1537=)
c.4587A>G (p.Ala1529=)
c.4647A>G (p.Ala1549=)
 ClinVar dbSNP
17g.31261753A>TCA499233854NF1c.422A>T (p.Gln141Leu)
c.4602A>T (p.Ala1534=)
n.726A>T
c.611A>T
n.1265A>T
c.4650A>T (p.Ala1550=)
c.4620A>T (p.Ala1540=)
c.4557A>T (p.Ala1519=)
c.3555A>T (p.Ala1185=)
c.1136A>T
c.1073A>T
n.3093A>T
c.4659A>T (p.Ala1553=)
c.4611A>T (p.Ala1537=)
c.4587A>T (p.Ala1529=)
c.4647A>T (p.Ala1549=)
17g.31261754delCA915949664NF1c.423del (p.Gln141HisfsTer23)
c.4603del (p.Thr1535HisfsTer?)
n.727del
c.612del
n.1266del
c.4651del (p.Thr1551HisfsTer?)
c.4621del (p.Thr1541HisfsTer?)
c.4558del (p.Thr1520HisfsTer?)
c.3556del (p.Thr1186HisfsTer?)
c.1137del
c.1074del
n.3094del
c.4660del (p.Thr1554HisfsTer?)
c.4612del (p.Thr1538HisfsTer?)
c.4588del (p.Thr1530HisfsTer?)
c.4648del (p.Thr1550HisfsTer?)
 ClinVar dbSNP
17g.31261754A=CA2255577408NF1c.423A= (p.Gln141=)
c.4603A= (p.Thr1535=)
n.727A=
c.612A=
n.1266A=
c.4651A= (p.Thr1551=)
c.4621A= (p.Thr1541=)
c.4558A= (p.Thr1520=)
c.3556A= (p.Thr1186=)
c.1137A=
c.1074A=
n.3094A=
c.4660A= (p.Thr1554=)
c.4612A= (p.Thr1538=)
c.4588A= (p.Thr1530=)
c.4648A= (p.Thr1550=)
17g.31261754A>CCA399000247NF1c.423A>C (p.Gln141His)
c.4603A>C (p.Thr1535Pro)
n.727A>C
c.612A>C
n.1266A>C
c.4651A>C (p.Thr1551Pro)
c.4621A>C (p.Thr1541Pro)
c.4558A>C (p.Thr1520Pro)
c.3556A>C (p.Thr1186Pro)
c.1137A>C
c.1074A>C
n.3094A>C
c.4660A>C (p.Thr1554Pro)
c.4612A>C (p.Thr1538Pro)
c.4588A>C (p.Thr1530Pro)
c.4648A>C (p.Thr1550Pro)
 dbSNP
17g.31261754A>GCA399000249NF1c.423A>G (p.Gln141=)
c.4603A>G (p.Thr1535Ala)
n.727A>G
c.612A>G
n.1266A>G
c.4651A>G (p.Thr1551Ala)
c.4621A>G (p.Thr1541Ala)
c.4558A>G (p.Thr1520Ala)
c.3556A>G (p.Thr1186Ala)
c.1137A>G
c.1074A>G
n.3094A>G
c.4660A>G (p.Thr1554Ala)
c.4612A>G (p.Thr1538Ala)
c.4588A>G (p.Thr1530Ala)
c.4648A>G (p.Thr1550Ala)
 ClinVar dbSNP
17g.31261754A>TCA399000251NF1c.423A>T (p.Gln141His)
c.4603A>T (p.Thr1535Ser)
n.727A>T
c.612A>T
n.1266A>T
c.4651A>T (p.Thr1551Ser)
c.4621A>T (p.Thr1541Ser)
c.4558A>T (p.Thr1520Ser)
c.3556A>T (p.Thr1186Ser)
c.1137A>T
c.1074A>T
n.3094A>T
c.4660A>T (p.Thr1554Ser)
c.4612A>T (p.Thr1538Ser)
c.4588A>T (p.Thr1530Ser)
c.4648A>T (p.Thr1550Ser)
 dbSNP
17g.31261754_31261769delinsACACTTCTTGCATACCCA2255577407NF1c.423_438delinsACACTTCTTGCATACC (p.Gln141=)
c.4603_4618delinsACACTTCTTGCATACC (p.Thr1535=)
n.727_742delinsACACTTCTTGCATACC
c.612_627delinsACACTTCTTGCATACC
n.1266_1281delinsACACTTCTTGCATACC
c.4651_4666delinsACACTTCTTGCATACC (p.Thr1551=)
c.4621_4636delinsACACTTCTTGCATACC (p.Thr1541=)
c.4558_4573delinsACACTTCTTGCATACC (p.Thr1520=)
c.3556_3571delinsACACTTCTTGCATACC (p.Thr1186=)
c.1137_1152delinsACACTTCTTGCATACC
c.1074_1089delinsACACTTCTTGCATACC
n.3094_3109delinsACACTTCTTGCATACC
c.4660_4675delinsACACTTCTTGCATACC (p.Thr1554=)
c.4612_4627delinsACACTTCTTGCATACC (p.Thr1538=)
c.4588_4603delinsACACTTCTTGCATACC (p.Thr1530=)
c.4648_4663delinsACACTTCTTGCATACC (p.Thr1550=)
17g.31261754_31261755insGCA1139665375NF1c.423_424insG (p.His142AlafsTer?)
c.4603_4604insG (p.Thr1535SerfsTer23)
n.727_728insG
c.612_613insG
n.1266_1267insG
c.4651_4652insG (p.Thr1551SerfsTer23)
c.4621_4622insG (p.Thr1541SerfsTer23)
c.4558_4559insG (p.Thr1520SerfsTer23)
c.3556_3557insG (p.Thr1186SerfsTer23)
c.1137_1138insG
c.1074_1075insG
n.3094_3095insG
c.4660_4661insG (p.Thr1554SerfsTer23)
c.4612_4613insG (p.Thr1538SerfsTer23)
c.4588_4589insG (p.Thr1530SerfsTer23)
c.4648_4649insG (p.Thr1550SerfsTer23)
 ClinVar dbSNP
17g.31261755C>ACA399000253NF1c.424C>A (p.His142Asn)
c.4604C>A (p.Thr1535Lys)
n.728C>A
c.613C>A
n.1267C>A
c.4652C>A (p.Thr1551Lys)
c.4622C>A (p.Thr1541Lys)
c.4559C>A (p.Thr1520Lys)
c.3557C>A (p.Thr1186Lys)
c.1138C>A
c.1075C>A
n.3095C>A
c.4661C>A (p.Thr1554Lys)
c.4613C>A (p.Thr1538Lys)
c.4589C>A (p.Thr1530Lys)
c.4649C>A (p.Thr1550Lys)
17g.31261755C>GCA399000255NF1c.424C>G (p.His142Asp)
c.4604C>G (p.Thr1535Arg)
n.728C>G
c.613C>G
n.1267C>G
c.4652C>G (p.Thr1551Arg)
c.4622C>G (p.Thr1541Arg)
c.4559C>G (p.Thr1520Arg)
c.3557C>G (p.Thr1186Arg)
c.1138C>G
c.1075C>G
n.3095C>G
c.4661C>G (p.Thr1554Arg)
c.4613C>G (p.Thr1538Arg)
c.4589C>G (p.Thr1530Arg)
c.4649C>G (p.Thr1550Arg)
 dbSNP
17g.31261755C>TCA399000257NF1c.424C>T (p.His142Tyr)
c.4604C>T (p.Thr1535Ile)
n.728C>T
c.613C>T
n.1267C>T
c.4652C>T (p.Thr1551Ile)
c.4622C>T (p.Thr1541Ile)
c.4559C>T (p.Thr1520Ile)
c.3557C>T (p.Thr1186Ile)
c.1138C>T
c.1075C>T
n.3095C>T
c.4661C>T (p.Thr1554Ile)
c.4613C>T (p.Thr1538Ile)
c.4589C>T (p.Thr1530Ile)
c.4649C>T (p.Thr1550Ile)
 ClinVar dbSNP
17g.31261755_31261769delCA16615526NF1c.424_438del (p.His142_Thr146del)
c.4604_4618del (p.Thr1535_Leu1540delinsMet)
n.728_742del
c.613_627del
n.1267_1281del
c.4652_4666del (p.Thr1551_Leu1556delinsMet)
c.4622_4636del (p.Thr1541_Leu1546delinsMet)
c.4559_4573del (p.Thr1520_Leu1525delinsMet)
c.3557_3571del (p.Thr1186_Leu1191delinsMet)
c.1138_1152del
c.1075_1089del
n.3095_3109del
c.4661_4675del (p.Thr1554_Leu1559delinsMet)
c.4613_4627del (p.Thr1538_Leu1543delinsMet)
c.4589_4603del (p.Thr1530_Leu1535delinsMet)
c.4649_4663del (p.Thr1550_Leu1555delinsMet)
 ClinVar dbSNP
17g.31261756A>CCA499233855NF1c.425A>C (p.His142Pro)
c.4605A>C (p.Thr1535=)
n.729A>C
c.614A>C
n.1268A>C
c.4653A>C (p.Thr1551=)
c.4623A>C (p.Thr1541=)
c.4560A>C (p.Thr1520=)
c.3558A>C (p.Thr1186=)
c.1139A>C
c.1076A>C
n.3096A>C
c.4662A>C (p.Thr1554=)
c.4614A>C (p.Thr1538=)
c.4590A>C (p.Thr1530=)
c.4650A>C (p.Thr1550=)
 ClinVar dbSNP
17g.31261756A>GCA499233856NF1c.425A>G (p.His142Arg)
c.4605A>G (p.Thr1535=)
n.729A>G
c.614A>G
n.1268A>G
c.4653A>G (p.Thr1551=)
c.4623A>G (p.Thr1541=)
c.4560A>G (p.Thr1520=)
c.3558A>G (p.Thr1186=)
c.1139A>G
c.1076A>G
n.3096A>G
c.4662A>G (p.Thr1554=)
c.4614A>G (p.Thr1538=)
c.4590A>G (p.Thr1530=)
c.4650A>G (p.Thr1550=)
17g.31261756A>TCA499233857NF1c.425A>T (p.His142Leu)
c.4605A>T (p.Thr1535=)
n.729A>T
c.614A>T
n.1268A>T
c.4653A>T (p.Thr1551=)
c.4623A>T (p.Thr1541=)
c.4560A>T (p.Thr1520=)
c.3558A>T (p.Thr1186=)
c.1139A>T
c.1076A>T
n.3096A>T
c.4662A>T (p.Thr1554=)
c.4614A>T (p.Thr1538=)
c.4590A>T (p.Thr1530=)
c.4650A>T (p.Thr1550=)
 dbSNP
17g.31261757C>ACA399000259NF1c.426C>A (p.His142Gln)
c.4606C>A (p.Leu1536Ile)
n.730C>A
c.615C>A
n.1269C>A
c.4654C>A (p.Leu1552Ile)
c.4624C>A (p.Leu1542Ile)
c.4561C>A (p.Leu1521Ile)
c.3559C>A (p.Leu1187Ile)
c.1140C>A
c.1077C>A
n.3097C>A
c.4663C>A (p.Leu1555Ile)
c.4615C>A (p.Leu1539Ile)
c.4591C>A (p.Leu1531Ile)
c.4651C>A (p.Leu1551Ile)
17g.31261757C=CA2255577409NF1c.426C= (p.His142=)
c.4606C= (p.Leu1536=)
n.730C=
c.615C=
n.1269C=
c.4654C= (p.Leu1552=)
c.4624C= (p.Leu1542=)
c.4561C= (p.Leu1521=)
c.3559C= (p.Leu1187=)
c.1140C=
c.1077C=
n.3097C=
c.4663C= (p.Leu1555=)
c.4615C= (p.Leu1539=)
c.4591C= (p.Leu1531=)
c.4651C= (p.Leu1551=)
17g.31261757C>GCA399000263NF1c.426C>G (p.His142Gln)
c.4606C>G (p.Leu1536Val)
n.730C>G
c.615C>G
n.1269C>G
c.4654C>G (p.Leu1552Val)
c.4624C>G (p.Leu1542Val)
c.4561C>G (p.Leu1521Val)
c.3559C>G (p.Leu1187Val)
c.1140C>G
c.1077C>G
n.3097C>G
c.4663C>G (p.Leu1555Val)
c.4615C>G (p.Leu1539Val)
c.4591C>G (p.Leu1531Val)
c.4651C>G (p.Leu1551Val)
 ClinVar dbSNP
17g.31261757C>TCA399000261NF1c.426C>T (p.His142=)
c.4606C>T (p.Leu1536Phe)
n.730C>T
c.615C>T
n.1269C>T
c.4654C>T (p.Leu1552Phe)
c.4624C>T (p.Leu1542Phe)
c.4561C>T (p.Leu1521Phe)
c.3559C>T (p.Leu1187Phe)
c.1140C>T
c.1077C>T
n.3097C>T
c.4663C>T (p.Leu1555Phe)
c.4615C>T (p.Leu1539Phe)
c.4591C>T (p.Leu1531Phe)
c.4651C>T (p.Leu1551Phe)
 ClinVar dbSNP
17g.31261760_31261762delCA2739267407NF1c.429_431del (p.Phe143del)
c.4609_4611del (p.Leu1537del)
n.733_735del
c.618_620del
n.1272_1274del
c.4657_4659del (p.Leu1553del)
c.4627_4629del (p.Leu1543del)
c.4564_4566del (p.Leu1522del)
c.3562_3564del (p.Leu1188del)
c.1143_1145del
c.1080_1082del
n.3100_3102del
c.4666_4668del (p.Leu1556del)
c.4618_4620del (p.Leu1540del)
c.4594_4596del (p.Leu1532del)
c.4654_4656del (p.Leu1552del)
 ClinVar
17g.31261758T>ACA399000265NF1c.427T>A (p.Phe143Ile)
c.4607T>A (p.Leu1536His)
n.731T>A
c.616T>A
n.1270T>A
c.4655T>A (p.Leu1552His)
c.4625T>A (p.Leu1542His)
c.4562T>A (p.Leu1521His)
c.3560T>A (p.Leu1187His)
c.1141T>A
c.1078T>A
n.3098T>A
c.4664T>A (p.Leu1555His)
c.4616T>A (p.Leu1539His)
c.4592T>A (p.Leu1531His)
c.4652T>A (p.Leu1551His)
17g.31261758T>CCA399000266NF1c.427T>C (p.Phe143Leu)
c.4607T>C (p.Leu1536Pro)
n.731T>C
c.616T>C
n.1270T>C
c.4655T>C (p.Leu1552Pro)
c.4625T>C (p.Leu1542Pro)
c.4562T>C (p.Leu1521Pro)
c.3560T>C (p.Leu1187Pro)
c.1141T>C
c.1078T>C
n.3098T>C
c.4664T>C (p.Leu1555Pro)
c.4616T>C (p.Leu1539Pro)
c.4592T>C (p.Leu1531Pro)
c.4652T>C (p.Leu1551Pro)
 dbSNP
17g.31261758T>GCA399000267NF1c.427T>G (p.Phe143Val)
c.4607T>G (p.Leu1536Arg)
n.731T>G
c.616T>G
n.1270T>G
c.4655T>G (p.Leu1552Arg)
c.4625T>G (p.Leu1542Arg)
c.4562T>G (p.Leu1521Arg)
c.3560T>G (p.Leu1187Arg)
c.1141T>G
c.1078T>G
n.3098T>G
c.4664T>G (p.Leu1555Arg)
c.4616T>G (p.Leu1539Arg)
c.4592T>G (p.Leu1531Arg)
c.4652T>G (p.Leu1551Arg)
 gnomAD v4
17g.31261759delCA2695225399NF1c.428del (p.Phe143SerfsTer21)
c.4608del (p.Ala1538HisfsTer?)
n.732del
c.617del
n.1271del
c.4656del (p.Ala1554HisfsTer?)
c.4626del (p.Ala1544HisfsTer?)
c.4563del (p.Ala1523HisfsTer?)
c.3561del (p.Ala1189HisfsTer?)
c.1142del
c.1079del
n.3099del
c.4665del (p.Ala1557HisfsTer?)
c.4617del (p.Ala1541HisfsTer?)
c.4593del (p.Ala1533HisfsTer?)
c.4653del (p.Ala1553HisfsTer?)
17g.31261759T>ACA499233858NF1c.428T>A (p.Phe143Tyr)
c.4608T>A (p.Leu1536=)
n.732T>A
c.617T>A
n.1271T>A
c.4656T>A (p.Leu1552=)
c.4626T>A (p.Leu1542=)
c.4563T>A (p.Leu1521=)
c.3561T>A (p.Leu1187=)
c.1142T>A
c.1079T>A
n.3099T>A
c.4665T>A (p.Leu1555=)
c.4617T>A (p.Leu1539=)
c.4593T>A (p.Leu1531=)
c.4653T>A (p.Leu1551=)
17g.31261759T>CCA499233859NF1c.428T>C (p.Phe143Ser)
c.4608T>C (p.Leu1536=)
n.732T>C
c.617T>C
n.1271T>C
c.4656T>C (p.Leu1552=)
c.4626T>C (p.Leu1542=)
c.4563T>C (p.Leu1521=)
c.3561T>C (p.Leu1187=)
c.1142T>C
c.1079T>C
n.3099T>C
c.4665T>C (p.Leu1555=)
c.4617T>C (p.Leu1539=)
c.4593T>C (p.Leu1531=)
c.4653T>C (p.Leu1551=)
 ClinVar dbSNP
17g.31261759T>GCA499233860NF1c.428T>G (p.Phe143Cys)
c.4608T>G (p.Leu1536=)
n.732T>G
c.617T>G
n.1271T>G
c.4656T>G (p.Leu1552=)
c.4626T>G (p.Leu1542=)
c.4563T>G (p.Leu1521=)
c.3561T>G (p.Leu1187=)
c.1142T>G
c.1079T>G
n.3099T>G
c.4665T>G (p.Leu1555=)
c.4617T>G (p.Leu1539=)
c.4593T>G (p.Leu1531=)
c.4653T>G (p.Leu1551=)
17g.31261759T=CA2255577411NF1c.428T= (p.Phe143=)
c.4608T= (p.Leu1536=)
n.732T=
c.617T=
n.1271T=
c.4656T= (p.Leu1552=)
c.4626T= (p.Leu1542=)
c.4563T= (p.Leu1521=)
c.3561T= (p.Leu1187=)
c.1142T=
c.1079T=
n.3099T=
c.4665T= (p.Leu1555=)
c.4617T= (p.Leu1539=)
c.4593T= (p.Leu1531=)
c.4653T= (p.Leu1551=)
17g.31261759_31261760delinsTCCA2255577410NF1c.428_429delinsTC (p.Phe143=)
c.4608_4609delinsTC (p.Leu1536=)
n.732_733delinsTC
c.617_618delinsTC
n.1271_1272delinsTC
c.4656_4657delinsTC (p.Leu1552=)
c.4626_4627delinsTC (p.Leu1542=)
c.4563_4564delinsTC (p.Leu1521=)
c.3561_3562delinsTC (p.Leu1187=)
c.1142_1143delinsTC
c.1079_1080delinsTC
n.3099_3100delinsTC
c.4665_4666delinsTC (p.Leu1555=)
c.4617_4618delinsTC (p.Leu1539=)
c.4593_4594delinsTC (p.Leu1531=)
c.4653_4654delinsTC (p.Leu1551=)
17g.31261760delCA625477256NF1c.429del (p.Leu144CysfsTer20)
c.4609del (p.Ala1538HisfsTer?)
n.733del
c.618del
n.1272del
c.4657del (p.Ala1554HisfsTer?)
c.4627del (p.Ala1544HisfsTer?)
c.4564del (p.Ala1523HisfsTer?)
c.3562del (p.Ala1189HisfsTer?)
c.1143del
c.1080del
n.3100del
c.4666del (p.Ala1557HisfsTer?)
c.4618del (p.Ala1541HisfsTer?)
c.4594del (p.Ala1533HisfsTer?)
c.4654del (p.Ala1553HisfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31261760C>ACA399000270NF1c.429C>A (p.Phe143Leu)
c.4609C>A (p.Leu1537Ile)
n.733C>A
c.618C>A
n.1272C>A
c.4657C>A (p.Leu1553Ile)
c.4627C>A (p.Leu1543Ile)
c.4564C>A (p.Leu1522Ile)
c.3562C>A (p.Leu1188Ile)
c.1143C>A
c.1080C>A
n.3100C>A
c.4666C>A (p.Leu1556Ile)
c.4618C>A (p.Leu1540Ile)
c.4594C>A (p.Leu1532Ile)
c.4654C>A (p.Leu1552Ile)
17g.31261760C>GCA399000272NF1c.429C>G (p.Phe143Leu)
c.4609C>G (p.Leu1537Val)
n.733C>G
c.618C>G
n.1272C>G
c.4657C>G (p.Leu1553Val)
c.4627C>G (p.Leu1543Val)
c.4564C>G (p.Leu1522Val)
c.3562C>G (p.Leu1188Val)
c.1143C>G
c.1080C>G
n.3100C>G
c.4666C>G (p.Leu1556Val)
c.4618C>G (p.Leu1540Val)
c.4594C>G (p.Leu1532Val)
c.4654C>G (p.Leu1552Val)
 dbSNP
17g.31261760C>TCA399000273NF1c.429C>T (p.Phe143=)
c.4609C>T (p.Leu1537Phe)
n.733C>T
c.618C>T
n.1272C>T
c.4657C>T (p.Leu1553Phe)
c.4627C>T (p.Leu1543Phe)
c.4564C>T (p.Leu1522Phe)
c.3562C>T (p.Leu1188Phe)
c.1143C>T
c.1080C>T
n.3100C>T
c.4666C>T (p.Leu1556Phe)
c.4618C>T (p.Leu1540Phe)
c.4594C>T (p.Leu1532Phe)
c.4654C>T (p.Leu1552Phe)
 ClinVar dbSNP
17g.31261761T>ACA399000275NF1c.430T>A (p.Leu144Met)
c.4610T>A (p.Leu1537His)
n.734T>A
c.619T>A
n.1273T>A
c.4658T>A (p.Leu1553His)
c.4628T>A (p.Leu1543His)
c.4565T>A (p.Leu1522His)
c.3563T>A (p.Leu1188His)
c.1144T>A
c.1081T>A
n.3101T>A
c.4667T>A (p.Leu1556His)
c.4619T>A (p.Leu1540His)
c.4595T>A (p.Leu1532His)
c.4655T>A (p.Leu1552His)
17g.31261761T>CCA399000276NF1c.430T>C (p.Leu144=)
c.4610T>C (p.Leu1537Pro)
n.734T>C
c.619T>C
n.1273T>C
c.4658T>C (p.Leu1553Pro)
c.4628T>C (p.Leu1543Pro)
c.4565T>C (p.Leu1522Pro)
c.3563T>C (p.Leu1188Pro)
c.1144T>C
c.1081T>C
n.3101T>C
c.4667T>C (p.Leu1556Pro)
c.4619T>C (p.Leu1540Pro)
c.4595T>C (p.Leu1532Pro)
c.4655T>C (p.Leu1552Pro)
 ClinVar dbSNP
17g.31261761T>GCA399000278NF1c.430T>G (p.Leu144Val)
c.4610T>G (p.Leu1537Arg)
n.734T>G
c.619T>G
n.1273T>G
c.4658T>G (p.Leu1553Arg)
c.4628T>G (p.Leu1543Arg)
c.4565T>G (p.Leu1522Arg)
c.3563T>G (p.Leu1188Arg)
c.1144T>G
c.1081T>G
n.3101T>G
c.4667T>G (p.Leu1556Arg)
c.4619T>G (p.Leu1540Arg)
c.4595T>G (p.Leu1532Arg)
c.4655T>G (p.Leu1552Arg)
17g.31261762dupCA2695225400NF1c.431dup (p.Leu144PhefsTer?)
c.4611dup (p.Ala1538CysfsTer20)
n.735dup
c.620dup
n.1274dup
c.4659dup (p.Ala1554CysfsTer20)
c.4629dup (p.Ala1544CysfsTer20)
c.4566dup (p.Ala1523CysfsTer20)
c.3564dup (p.Ala1189CysfsTer20)
c.1145dup
c.1082dup
n.3102dup
c.4668dup (p.Ala1557CysfsTer20)
c.4620dup (p.Ala1541CysfsTer20)
c.4596dup (p.Ala1533CysfsTer20)
c.4656dup (p.Ala1553CysfsTer20)
17g.31261762delCA2831039637NF1c.431del (p.Leu144CysfsTer20)
c.4611del (p.Ala1538HisfsTer?)
n.735del
c.620del
n.1274del
c.4659del (p.Ala1554HisfsTer?)
c.4629del (p.Ala1544HisfsTer?)
c.4566del (p.Ala1523HisfsTer?)
c.3564del (p.Ala1189HisfsTer?)
c.1145del
c.1082del
n.3102del
c.4668del (p.Ala1557HisfsTer?)
c.4620del (p.Ala1541HisfsTer?)
c.4596del (p.Ala1533HisfsTer?)
c.4656del (p.Ala1553HisfsTer?)
17g.31261762T>ACA499233861NF1c.431T>A (p.Leu144Ter)
c.4611T>A (p.Leu1537=)
n.735T>A
c.620T>A
n.1274T>A
c.4659T>A (p.Leu1553=)
c.4629T>A (p.Leu1543=)
c.4566T>A (p.Leu1522=)
c.3564T>A (p.Leu1188=)
c.1145T>A
c.1082T>A
n.3102T>A
c.4668T>A (p.Leu1556=)
c.4620T>A (p.Leu1540=)
c.4596T>A (p.Leu1532=)
c.4656T>A (p.Leu1552=)
 dbSNP
17g.31261762T>CCA499233862NF1c.431T>C (p.Leu144Ser)
c.4611T>C (p.Leu1537=)
n.735T>C
c.620T>C
n.1274T>C
c.4659T>C (p.Leu1553=)
c.4629T>C (p.Leu1543=)
c.4566T>C (p.Leu1522=)
c.3564T>C (p.Leu1188=)
c.1145T>C
c.1082T>C
n.3102T>C
c.4668T>C (p.Leu1556=)
c.4620T>C (p.Leu1540=)
c.4596T>C (p.Leu1532=)
c.4656T>C (p.Leu1552=)
 dbSNP
17g.31261762T>GCA499233863NF1c.431T>G (p.Leu144Trp)
c.4611T>G (p.Leu1537=)
n.735T>G
c.620T>G
n.1274T>G
c.4659T>G (p.Leu1553=)
c.4629T>G (p.Leu1543=)
c.4566T>G (p.Leu1522=)
c.3564T>G (p.Leu1188=)
c.1145T>G
c.1082T>G
n.3102T>G
c.4668T>G (p.Leu1556=)
c.4620T>G (p.Leu1540=)
c.4596T>G (p.Leu1532=)
c.4656T>G (p.Leu1552=)
17g.31261763G>ACA399000279NF1c.432G>A (p.Leu144=)
c.4612G>A (p.Ala1538Thr)
n.736G>A
c.621G>A
n.1275G>A
c.4660G>A (p.Ala1554Thr)
c.4630G>A (p.Ala1544Thr)
c.4567G>A (p.Ala1523Thr)
c.3565G>A (p.Ala1189Thr)
c.1146G>A
c.1083G>A
n.3103G>A
c.4669G>A (p.Ala1557Thr)
c.4621G>A (p.Ala1541Thr)
c.4597G>A (p.Ala1533Thr)
c.4657G>A (p.Ala1553Thr)
 dbSNP
17g.31261763G>CCA399000280NF1c.432G>C (p.Leu144Phe)
c.4612G>C (p.Ala1538Pro)
n.736G>C
c.621G>C
n.1275G>C
c.4660G>C (p.Ala1554Pro)
c.4630G>C (p.Ala1544Pro)
c.4567G>C (p.Ala1523Pro)
c.3565G>C (p.Ala1189Pro)
c.1146G>C
c.1083G>C
n.3103G>C
c.4669G>C (p.Ala1557Pro)
c.4621G>C (p.Ala1541Pro)
c.4597G>C (p.Ala1533Pro)
c.4657G>C (p.Ala1553Pro)
 dbSNP
17g.31261763G>TCA399000281NF1c.432G>T (p.Leu144Phe)
c.4612G>T (p.Ala1538Ser)
n.736G>T
c.621G>T
n.1275G>T
c.4660G>T (p.Ala1554Ser)
c.4630G>T (p.Ala1544Ser)
c.4567G>T (p.Ala1523Ser)
c.3565G>T (p.Ala1189Ser)
c.1146G>T
c.1083G>T
n.3103G>T
c.4669G>T (p.Ala1557Ser)
c.4621G>T (p.Ala1541Ser)
c.4597G>T (p.Ala1533Ser)
c.4657G>T (p.Ala1553Ser)
 dbSNP
17g.31261763_31261764delinsGCCA2255577412NF1c.432_433delinsGC (p.Leu144=)
c.4612_4613delinsGC (p.Ala1538=)
n.736_737delinsGC
c.621_622delinsGC
n.1275_1276delinsGC
c.4660_4661delinsGC (p.Ala1554=)
c.4630_4631delinsGC (p.Ala1544=)
c.4567_4568delinsGC (p.Ala1523=)
c.3565_3566delinsGC (p.Ala1189=)
c.1146_1147delinsGC
c.1083_1084delinsGC
n.3103_3104delinsGC
c.4669_4670delinsGC (p.Ala1557=)
c.4621_4622delinsGC (p.Ala1541=)
c.4597_4598delinsGC (p.Ala1533=)
c.4657_4658delinsGC (p.Ala1553=)
17g.31261764delCA915949665NF1c.433del (p.His145IlefsTer19)
c.4613del (p.Ala1538AspfsTer30)
n.737del
c.622del
n.1276del
c.4661del (p.Ala1554AspfsTer30)
c.4631del (p.Ala1544AspfsTer30)
c.4568del (p.Ala1523AspfsTer30)
c.3566del (p.Ala1189AspfsTer30)
c.1147del
c.1084del
n.3104del
c.4670del (p.Ala1557AspfsTer30)
c.4622del (p.Ala1541AspfsTer30)
c.4598del (p.Ala1533AspfsTer30)
c.4658del (p.Ala1553AspfsTer30)
 ClinVar dbSNP
17g.31261764C>ACA399000288NF1c.433C>A (p.His145Asn)
c.4613C>A (p.Ala1538Glu)
n.737C>A
c.622C>A
n.1276C>A
c.4661C>A (p.Ala1554Glu)
c.4631C>A (p.Ala1544Glu)
c.4568C>A (p.Ala1523Glu)
c.3566C>A (p.Ala1189Glu)
c.1147C>A
c.1084C>A
n.3104C>A
c.4670C>A (p.Ala1557Glu)
c.4622C>A (p.Ala1541Glu)
c.4598C>A (p.Ala1533Glu)
c.4658C>A (p.Ala1553Glu)
 ClinVar dbSNP
17g.31261764C=CA2255577413NF1c.433C= (p.His145=)
c.4613C= (p.Ala1538=)
n.737C=
c.622C=
n.1276C=
c.4661C= (p.Ala1554=)
c.4631C= (p.Ala1544=)
c.4568C= (p.Ala1523=)
c.3566C= (p.Ala1189=)
c.1147C=
c.1084C=
n.3104C=
c.4670C= (p.Ala1557=)
c.4622C= (p.Ala1541=)
c.4598C= (p.Ala1533=)
c.4658C= (p.Ala1553=)
17g.31261764C>GCA399000284NF1c.433C>G (p.His145Asp)
c.4613C>G (p.Ala1538Gly)
n.737C>G
c.622C>G
n.1276C>G
c.4661C>G (p.Ala1554Gly)
c.4631C>G (p.Ala1544Gly)
c.4568C>G (p.Ala1523Gly)
c.3566C>G (p.Ala1189Gly)
c.1147C>G
c.1084C>G
n.3104C>G
c.4670C>G (p.Ala1557Gly)
c.4622C>G (p.Ala1541Gly)
c.4598C>G (p.Ala1533Gly)
c.4658C>G (p.Ala1553Gly)
 dbSNP
17g.31261764C>TCA399000286NF1c.433C>T (p.His145Tyr)
c.4613C>T (p.Ala1538Val)
n.737C>T
c.622C>T
n.1276C>T
c.4661C>T (p.Ala1554Val)
c.4631C>T (p.Ala1544Val)
c.4568C>T (p.Ala1523Val)
c.3566C>T (p.Ala1189Val)
c.1147C>T
c.1084C>T
n.3104C>T
c.4670C>T (p.Ala1557Val)
c.4622C>T (p.Ala1541Val)
c.4598C>T (p.Ala1533Val)
c.4658C>T (p.Ala1553Val)
 dbSNP
17g.31261764dupCA658761109NF1c.433dup (p.His145ProfsTer?)
c.4613dup (p.Tyr1539IlefsTer19)
n.737dup
c.622dup
n.1276dup
c.4661dup (p.Tyr1555IlefsTer19)
c.4631dup (p.Tyr1545IlefsTer19)
c.4568dup (p.Tyr1524IlefsTer19)
c.3566dup (p.Tyr1190IlefsTer19)
c.1147dup
c.1084dup
n.3104dup
c.4670dup (p.Tyr1558IlefsTer19)
c.4622dup (p.Tyr1542IlefsTer19)
c.4598dup (p.Tyr1534IlefsTer19)
c.4658dup (p.Tyr1554IlefsTer19)
17g.31261765A=CA2255577414NF1c.434A= (p.His145=)
c.4614A= (p.Ala1538=)
n.738A=
c.623A=
n.1277A=
c.4662A= (p.Ala1554=)
c.4632A= (p.Ala1544=)
c.4569A= (p.Ala1523=)
c.3567A= (p.Ala1189=)
c.1148A=
c.1085A=
n.3105A=
c.4671A= (p.Ala1557=)
c.4623A= (p.Ala1541=)
c.4599A= (p.Ala1533=)
c.4659A= (p.Ala1553=)
17g.31261765A>CCA499233864NF1c.434A>C (p.His145Pro)
c.4614A>C (p.Ala1538=)
n.738A>C
c.623A>C
n.1277A>C
c.4662A>C (p.Ala1554=)
c.4632A>C (p.Ala1544=)
c.4569A>C (p.Ala1523=)
c.3567A>C (p.Ala1189=)
c.1148A>C
c.1085A>C
n.3105A>C
c.4671A>C (p.Ala1557=)
c.4623A>C (p.Ala1541=)
c.4599A>C (p.Ala1533=)
c.4659A>C (p.Ala1553=)
17g.31261765A>GCA16615243NF1c.434A>G (p.His145Arg)
c.4614A>G (p.Ala1538=)
n.738A>G
c.623A>G
n.1277A>G
c.4662A>G (p.Ala1554=)
c.4632A>G (p.Ala1544=)
c.4569A>G (p.Ala1523=)
c.3567A>G (p.Ala1189=)
c.1148A>G
c.1085A>G
n.3105A>G
c.4671A>G (p.Ala1557=)
c.4623A>G (p.Ala1541=)
c.4599A>G (p.Ala1533=)
c.4659A>G (p.Ala1553=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31261765A>TCA499233865NF1c.434A>T (p.His145Leu)
c.4614A>T (p.Ala1538=)
n.738A>T
c.623A>T
n.1277A>T
c.4662A>T (p.Ala1554=)
c.4632A>T (p.Ala1544=)
c.4569A>T (p.Ala1523=)
c.3567A>T (p.Ala1189=)
c.1148A>T
c.1085A>T
n.3105A>T
c.4671A>T (p.Ala1557=)
c.4623A>T (p.Ala1541=)
c.4599A>T (p.Ala1533=)
c.4659A>T (p.Ala1553=)
17g.31261766T>ACA399000291NF1c.435T>A (p.His145Gln)
c.4615T>A (p.Tyr1539Asn)
n.739T>A
c.624T>A
n.1278T>A
c.4663T>A (p.Tyr1555Asn)
c.4633T>A (p.Tyr1545Asn)
c.4570T>A (p.Tyr1524Asn)
c.3568T>A (p.Tyr1190Asn)
c.1149T>A
c.1086T>A
n.3106T>A
c.4672T>A (p.Tyr1558Asn)
c.4624T>A (p.Tyr1542Asn)
c.4600T>A (p.Tyr1534Asn)
c.4660T>A (p.Tyr1554Asn)
 dbSNP
17g.31261766T>CCA399000293NF1c.435T>C (p.His145=)
c.4615T>C (p.Tyr1539His)
n.739T>C
c.624T>C
n.1278T>C
c.4663T>C (p.Tyr1555His)
c.4633T>C (p.Tyr1545His)
c.4570T>C (p.Tyr1524His)
c.3568T>C (p.Tyr1190His)
c.1149T>C
c.1086T>C
n.3106T>C
c.4672T>C (p.Tyr1558His)
c.4624T>C (p.Tyr1542His)
c.4600T>C (p.Tyr1534His)
c.4660T>C (p.Tyr1554His)
 ClinVar dbSNP
17g.31261766T>GCA399000294NF1c.435T>G (p.His145Gln)
c.4615T>G (p.Tyr1539Asp)
n.739T>G
c.624T>G
n.1278T>G
c.4663T>G (p.Tyr1555Asp)
c.4633T>G (p.Tyr1545Asp)
c.4570T>G (p.Tyr1524Asp)
c.3568T>G (p.Tyr1190Asp)
c.1149T>G
c.1086T>G
n.3106T>G
c.4672T>G (p.Tyr1558Asp)
c.4624T>G (p.Tyr1542Asp)
c.4600T>G (p.Tyr1534Asp)
c.4660T>G (p.Tyr1554Asp)
17g.31261766T=CA2255577415NF1c.435T= (p.His145=)
c.4615T= (p.Tyr1539=)
n.739T=
c.624T=
n.1278T=
c.4663T= (p.Tyr1555=)
c.4633T= (p.Tyr1545=)
c.4570T= (p.Tyr1524=)
c.3568T= (p.Tyr1190=)
c.1149T=
c.1086T=
n.3106T=
c.4672T= (p.Tyr1558=)
c.4624T= (p.Tyr1542=)
c.4600T= (p.Tyr1534=)
c.4660T= (p.Tyr1554=)
17g.31261767A=CA2255577416NF1c.436A= (p.Thr146=)
c.4616A= (p.Tyr1539=)
n.740A=
c.625A=
n.1279A=
c.4664A= (p.Tyr1555=)
c.4634A= (p.Tyr1545=)
c.4571A= (p.Tyr1524=)
c.3569A= (p.Tyr1190=)
c.1150A=
c.1087A=
n.3107A=
c.4673A= (p.Tyr1558=)
c.4625A= (p.Tyr1542=)
c.4601A= (p.Tyr1534=)
c.4661A= (p.Tyr1554=)
17g.31261767A>CCA399000296NF1c.436A>C (p.Thr146Pro)
c.4616A>C (p.Tyr1539Ser)
n.740A>C
c.625A>C
n.1279A>C
c.4664A>C (p.Tyr1555Ser)
c.4634A>C (p.Tyr1545Ser)
c.4571A>C (p.Tyr1524Ser)
c.3569A>C (p.Tyr1190Ser)
c.1150A>C
c.1087A>C
n.3107A>C
c.4673A>C (p.Tyr1558Ser)
c.4625A>C (p.Tyr1542Ser)
c.4601A>C (p.Tyr1534Ser)
c.4661A>C (p.Tyr1554Ser)
 dbSNP
17g.31261767A>GCA399000298NF1c.436A>G (p.Thr146Ala)
c.4616A>G (p.Tyr1539Cys)
n.740A>G
c.625A>G
n.1279A>G
c.4664A>G (p.Tyr1555Cys)
c.4634A>G (p.Tyr1545Cys)
c.4571A>G (p.Tyr1524Cys)
c.3569A>G (p.Tyr1190Cys)
c.1150A>G
c.1087A>G
n.3107A>G
c.4673A>G (p.Tyr1558Cys)
c.4625A>G (p.Tyr1542Cys)
c.4601A>G (p.Tyr1534Cys)
c.4661A>G (p.Tyr1554Cys)
 ClinVar dbSNP
17g.31261767A>TCA399000299NF1c.436A>T (p.Thr146Ser)
c.4616A>T (p.Tyr1539Phe)
n.740A>T
c.625A>T
n.1279A>T
c.4664A>T (p.Tyr1555Phe)
c.4634A>T (p.Tyr1545Phe)
c.4571A>T (p.Tyr1524Phe)
c.3569A>T (p.Tyr1190Phe)
c.1150A>T
c.1087A>T
n.3107A>T
c.4673A>T (p.Tyr1558Phe)
c.4625A>T (p.Tyr1542Phe)
c.4601A>T (p.Tyr1534Phe)
c.4661A>T (p.Tyr1554Phe)
 dbSNP
17g.31261767_31261769delCA2580093296NF1c.436_438del (p.Thr146del)
c.4616_4618del (p.Tyr1539del)
n.740_742del
c.625_627del
n.1279_1281del
c.4664_4666del (p.Tyr1555del)
c.4634_4636del (p.Tyr1545del)
c.4571_4573del (p.Tyr1524del)
c.3569_3571del (p.Tyr1190del)
c.1150_1152del
c.1087_1089del
n.3107_3109del
c.4673_4675del (p.Tyr1558del)
c.4625_4627del (p.Tyr1542del)
c.4601_4603del (p.Tyr1534del)
c.4661_4663del (p.Tyr1554del)
 ClinVar
17g.31261769_31261805delCA2637082252NF1c.438_474del (p.Trp147LeufsTer5)
c.4618_4654del (p.Leu1540ThrfsTer16)
n.742_778del
c.627_663del
n.1281_1317del
c.4666_4702del (p.Leu1556ThrfsTer16)
c.4636_4672del (p.Leu1546ThrfsTer16)
c.4573_4609del (p.Leu1525ThrfsTer16)
c.3571_3607del (p.Leu1191ThrfsTer16)
n.3109_3145del
c.4675_4711del (p.Leu1559ThrfsTer16)
c.4627_4663del (p.Leu1543ThrfsTer16)
c.4603_4639del (p.Leu1535ThrfsTer16)
c.4663_4699del (p.Leu1555ThrfsTer16)
 gnomAD v4
17g.31261768C>ACA399000300NF1c.437C>A (p.Thr146Asn)
c.4617C>A (p.Tyr1539Ter)
n.741C>A
c.626C>A
n.1280C>A
c.4665C>A (p.Tyr1555Ter)
c.4635C>A (p.Tyr1545Ter)
c.4572C>A (p.Tyr1524Ter)
c.3570C>A (p.Tyr1190Ter)
c.1151C>A
c.1088C>A
n.3108C>A
c.4674C>A (p.Tyr1558Ter)
c.4626C>A (p.Tyr1542Ter)
c.4602C>A (p.Tyr1534Ter)
c.4662C>A (p.Tyr1554Ter)
 ClinVar dbSNP
17g.31261768C=CA2255577417NF1c.437C= (p.Thr146=)
c.4617C= (p.Tyr1539=)
n.741C=
c.626C=
n.1280C=
c.4665C= (p.Tyr1555=)
c.4635C= (p.Tyr1545=)
c.4572C= (p.Tyr1524=)
c.3570C= (p.Tyr1190=)
c.1151C=
c.1088C=
n.3108C=
c.4674C= (p.Tyr1558=)
c.4626C= (p.Tyr1542=)
c.4602C= (p.Tyr1534=)
c.4662C= (p.Tyr1554=)
17g.31261768C>GCA399000303NF1c.437C>G (p.Thr146Ser)
c.4617C>G (p.Tyr1539Ter)
n.741C>G
c.626C>G
n.1280C>G
c.4665C>G (p.Tyr1555Ter)
c.4635C>G (p.Tyr1545Ter)
c.4572C>G (p.Tyr1524Ter)
c.3570C>G (p.Tyr1190Ter)
c.1151C>G
c.1088C>G
n.3108C>G
c.4674C>G (p.Tyr1558Ter)
c.4626C>G (p.Tyr1542Ter)
c.4602C>G (p.Tyr1534Ter)
c.4662C>G (p.Tyr1554Ter)
 ClinVar dbSNP
17g.31261768C>TCA8486451NF1c.437C>T (p.Thr146Ile)
c.4617C>T (p.Tyr1539=)
n.741C>T
c.626C>T
n.1280C>T
c.4665C>T (p.Tyr1555=)
c.4635C>T (p.Tyr1545=)
c.4572C>T (p.Tyr1524=)
c.3570C>T (p.Tyr1190=)
c.1151C>T
c.1088C>T
n.3108C>T
c.4674C>T (p.Tyr1558=)
c.4626C>T (p.Tyr1542=)
c.4602C>T (p.Tyr1534=)
c.4662C>T (p.Tyr1554=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31261769delCA2695225401NF1c.438del (p.Trp147GlyfsTer17)
c.4618del (p.Leu1540TrpfsTer28)
n.742del
c.627del
n.1281del
c.4666del (p.Leu1556TrpfsTer28)
c.4636del (p.Leu1546TrpfsTer28)
c.4573del (p.Leu1525TrpfsTer28)
c.3571del (p.Leu1191TrpfsTer28)
c.1152del
c.1089del
n.3109del
c.4675del (p.Leu1559TrpfsTer28)
c.4627del (p.Leu1543TrpfsTer28)
c.4603del (p.Leu1535TrpfsTer28)
c.4663del (p.Leu1555TrpfsTer28)
17g.31261769C>ACA399000305NF1c.438C>A (p.Thr146=)
c.4618C>A (p.Leu1540Met)
n.742C>A
c.627C>A
n.1281C>A
c.4666C>A (p.Leu1556Met)
c.4636C>A (p.Leu1546Met)
c.4573C>A (p.Leu1525Met)
c.3571C>A (p.Leu1191Met)
c.1152C>A
c.1089C>A
n.3109C>A
c.4675C>A (p.Leu1559Met)
c.4627C>A (p.Leu1543Met)
c.4603C>A (p.Leu1535Met)
c.4663C>A (p.Leu1555Met)
 dbSNP
17g.31261769C>GCA399000307NF1c.438C>G (p.Thr146=)
c.4618C>G (p.Leu1540Val)
n.742C>G
c.627C>G
n.1281C>G
c.4666C>G (p.Leu1556Val)
c.4636C>G (p.Leu1546Val)
c.4573C>G (p.Leu1525Val)
c.3571C>G (p.Leu1191Val)
c.1152C>G
c.1089C>G
n.3109C>G
c.4675C>G (p.Leu1559Val)
c.4627C>G (p.Leu1543Val)
c.4603C>G (p.Leu1535Val)
c.4663C>G (p.Leu1555Val)
 dbSNP
17g.31261769C>TCA499233866NF1c.438C>T (p.Thr146=)
c.4618C>T (p.Leu1540=)
n.742C>T
c.627C>T
n.1281C>T
c.4666C>T (p.Leu1556=)
c.4636C>T (p.Leu1546=)
c.4573C>T (p.Leu1525=)
c.3571C>T (p.Leu1191=)
c.1152C>T
c.1089C>T
n.3109C>T
c.4675C>T (p.Leu1559=)
c.4627C>T (p.Leu1543=)
c.4603C>T (p.Leu1535=)
c.4663C>T (p.Leu1555=)
 ClinVar dbSNP
17g.31261770T>ACA399000311NF1c.439T>A (p.Trp147Arg)
c.4619T>A (p.Leu1540Gln)
n.743T>A
c.628T>A
n.1282T>A
c.4667T>A (p.Leu1556Gln)
c.4637T>A (p.Leu1546Gln)
c.4574T>A (p.Leu1525Gln)
c.3572T>A (p.Leu1191Gln)
c.1153T>A
c.1090T>A
n.3110T>A
c.4676T>A (p.Leu1559Gln)
c.4628T>A (p.Leu1543Gln)
c.4604T>A (p.Leu1535Gln)
c.4664T>A (p.Leu1555Gln)
17g.31261770T>CCA10580322NF1c.439T>C (p.Trp147Arg)
c.4619T>C (p.Leu1540Pro)
n.743T>C
c.628T>C
n.1282T>C
c.4667T>C (p.Leu1556Pro)
c.4637T>C (p.Leu1546Pro)
c.4574T>C (p.Leu1525Pro)
c.3572T>C (p.Leu1191Pro)
c.1153T>C
c.1090T>C
n.3110T>C
c.4676T>C (p.Leu1559Pro)
c.4628T>C (p.Leu1543Pro)
c.4604T>C (p.Leu1535Pro)
c.4664T>C (p.Leu1555Pro)
 ClinVar dbSNP
17g.31261770T>GCA399000309NF1c.439T>G (p.Trp147Gly)
c.4619T>G (p.Leu1540Arg)
n.743T>G
c.628T>G
n.1282T>G
c.4667T>G (p.Leu1556Arg)
c.4637T>G (p.Leu1546Arg)
c.4574T>G (p.Leu1525Arg)
c.3572T>G (p.Leu1191Arg)
c.1153T>G
c.1090T>G
n.3110T>G
c.4676T>G (p.Leu1559Arg)
c.4628T>G (p.Leu1543Arg)
c.4604T>G (p.Leu1535Arg)
c.4664T>G (p.Leu1555Arg)
 ClinVar
17g.31261770T=CA2255577418NF1c.439T= (p.Trp147=)
c.4619T= (p.Leu1540=)
n.743T=
c.628T=
n.1282T=
c.4667T= (p.Leu1556=)
c.4637T= (p.Leu1546=)
c.4574T= (p.Leu1525=)
c.3572T= (p.Leu1191=)
c.1153T=
c.1090T=
n.3110T=
c.4676T= (p.Leu1559=)
c.4628T= (p.Leu1543=)
c.4604T= (p.Leu1535=)
c.4664T= (p.Leu1555=)
17g.31261770_31261772delinsTGGCA2255577419NF1c.439_441delinsTGG (p.Trp147=)
c.4619_4621delinsTGG (p.Leu1540=)
n.743_745delinsTGG
c.628_630delinsTGG
n.1282_1284delinsTGG
c.4667_4669delinsTGG (p.Leu1556=)
c.4637_4639delinsTGG (p.Leu1546=)
c.4574_4576delinsTGG (p.Leu1525=)
c.3572_3574delinsTGG (p.Leu1191=)
c.1153_1155delinsTGG
c.1090_1092delinsTGG
n.3110_3112delinsTGG
c.4676_4678delinsTGG (p.Leu1559=)
c.4628_4630delinsTGG (p.Leu1543=)
c.4604_4606delinsTGG (p.Leu1535=)
c.4664_4666delinsTGG (p.Leu1555=)
17g.31261771_31261774delCA2580093298NF1c.440_443del (p.Trp147SerfsTer16)
c.4620_4623del (p.Gly1541LeufsTer26)
n.744_747del
c.629_632del
n.1283_1286del
c.4668_4671del (p.Gly1557LeufsTer26)
c.4638_4641del (p.Gly1547LeufsTer26)
c.4575_4578del (p.Gly1526LeufsTer26)
c.3573_3576del (p.Gly1192LeufsTer26)
c.1154_1157del
c.1091_1094del
n.3111_3114del
c.4677_4680del (p.Gly1560LeufsTer26)
c.4629_4632del (p.Gly1544LeufsTer26)
c.4605_4608del (p.Gly1536LeufsTer26)
c.4665_4668del (p.Gly1556LeufsTer26)
 ClinVar
17g.31261771G>ACA499233870NF1c.440G>A (p.Trp147Ter)
c.4620G>A (p.Leu1540=)
n.744G>A
c.629G>A
n.1283G>A
c.4668G>A (p.Leu1556=)
c.4638G>A (p.Leu1546=)
c.4575G>A (p.Leu1525=)
c.3573G>A (p.Leu1191=)
c.1154G>A
c.1091G>A
n.3111G>A
c.4677G>A (p.Leu1559=)
c.4629G>A (p.Leu1543=)
c.4605G>A (p.Leu1535=)
c.4665G>A (p.Leu1555=)
 ClinVar dbSNP gnomAD v4
17g.31261771G>CCA499233869NF1c.440G>C (p.Trp147Ser)
c.4620G>C (p.Leu1540=)
n.744G>C
c.629G>C
n.1283G>C
c.4668G>C (p.Leu1556=)
c.4638G>C (p.Leu1546=)
c.4575G>C (p.Leu1525=)
c.3573G>C (p.Leu1191=)
c.1154G>C
c.1091G>C
n.3111G>C
c.4677G>C (p.Leu1559=)
c.4629G>C (p.Leu1543=)
c.4605G>C (p.Leu1535=)
c.4665G>C (p.Leu1555=)
 dbSNP COSMIC
17g.31261771G>TCA499233867NF1c.440G>T (p.Trp147Leu)
c.4620G>T (p.Leu1540=)
n.744G>T
c.629G>T
n.1283G>T
c.4668G>T (p.Leu1556=)
c.4638G>T (p.Leu1546=)
c.4575G>T (p.Leu1525=)
c.3573G>T (p.Leu1191=)
c.1154G>T
c.1091G>T
n.3111G>T
c.4677G>T (p.Leu1559=)
c.4629G>T (p.Leu1543=)
c.4605G>T (p.Leu1535=)
c.4665G>T (p.Leu1555=)
 ClinVar dbSNP
17g.31261772_31261773dupCA2580093299NF1c.441_442dup (p.Val148GlyfsTer17)
c.4621_4622dup (p.Pro1542ValfsTer27)
n.745_746dup
c.630_631dup
n.1284_1285dup
c.4669_4670dup (p.Pro1558ValfsTer27)
c.4639_4640dup (p.Pro1548ValfsTer27)
c.4576_4577dup (p.Pro1527ValfsTer27)
c.3574_3575dup (p.Pro1193ValfsTer27)
c.1155_1156dup
c.1092_1093dup
n.3112_3113dup
c.4678_4679dup (p.Pro1561ValfsTer27)
c.4630_4631dup (p.Pro1545ValfsTer27)
c.4606_4607dup (p.Pro1537ValfsTer27)
c.4666_4667dup (p.Pro1557ValfsTer27)
 ClinVar
17g.31261773delCA499233868NF1c.442del (p.Val148SerfsTer16)
c.4622del (p.Gly1541ValfsTer27)
n.746del
c.631del
n.1285del
c.4670del (p.Gly1557ValfsTer27)
c.4640del (p.Gly1547ValfsTer27)
c.4577del (p.Gly1526ValfsTer27)
c.3575del (p.Gly1192ValfsTer27)
c.1156del
c.1093del
n.3113del
c.4679del (p.Gly1560ValfsTer27)
c.4631del (p.Gly1544ValfsTer27)
c.4607del (p.Gly1536ValfsTer27)
c.4667del (p.Gly1556ValfsTer27)
 ClinVar dbSNP COSMIC
17g.31261772_31261773delCA2255577420NF1c.441_442del (p.Trp147CysfsTer?)
c.4621_4622del (p.Gly1541SerfsTer16)
n.745_746del
c.630_631del
n.1284_1285del
c.4669_4670del (p.Gly1557SerfsTer16)
c.4639_4640del (p.Gly1547SerfsTer16)
c.4576_4577del (p.Gly1526SerfsTer16)
c.3574_3575del (p.Gly1192SerfsTer16)
c.1155_1156del
c.1092_1093del
n.3112_3113del
c.4678_4679del (p.Gly1560SerfsTer16)
c.4630_4631del (p.Gly1544SerfsTer16)
c.4606_4607del (p.Gly1536SerfsTer16)
c.4666_4667del (p.Gly1556SerfsTer16)
 ClinVar dbSNP
17g.31261772G>ACA399000314NF1c.441G>A (p.Trp147Ter)
c.4621G>A (p.Gly1541Ser)
n.745G>A
c.630G>A
n.1284G>A
c.4669G>A (p.Gly1557Ser)
c.4639G>A (p.Gly1547Ser)
c.4576G>A (p.Gly1526Ser)
c.3574G>A (p.Gly1192Ser)
c.1155G>A
c.1092G>A
n.3112G>A
c.4678G>A (p.Gly1560Ser)
c.4630G>A (p.Gly1544Ser)
c.4606G>A (p.Gly1536Ser)
c.4666G>A (p.Gly1556Ser)
 ClinVar
17g.31261772G>CCA399000315NF1c.441G>C (p.Trp147Cys)
c.4621G>C (p.Gly1541Arg)
n.745G>C
c.630G>C
n.1284G>C
c.4669G>C (p.Gly1557Arg)
c.4639G>C (p.Gly1547Arg)
c.4576G>C (p.Gly1526Arg)
c.3574G>C (p.Gly1192Arg)
c.1155G>C
c.1092G>C
n.3112G>C
c.4678G>C (p.Gly1560Arg)
c.4630G>C (p.Gly1544Arg)
c.4606G>C (p.Gly1536Arg)
c.4666G>C (p.Gly1556Arg)
 dbSNP gnomAD v4
17g.31261772G>TCA399000317NF1c.441G>T (p.Trp147Cys)
c.4621G>T (p.Gly1541Cys)
n.745G>T
c.630G>T
n.1284G>T
c.4669G>T (p.Gly1557Cys)
c.4639G>T (p.Gly1547Cys)
c.4576G>T (p.Gly1526Cys)
c.3574G>T (p.Gly1192Cys)
c.1155G>T
c.1092G>T
n.3112G>T
c.4678G>T (p.Gly1560Cys)
c.4630G>T (p.Gly1544Cys)
c.4606G>T (p.Gly1536Cys)
c.4666G>T (p.Gly1556Cys)
 dbSNP
17g.31261773G>ACA399000319NF1c.442G>A (p.Val148Ile)
c.4622G>A (p.Gly1541Asp)
n.746G>A
c.631G>A
n.1285G>A
c.4670G>A (p.Gly1557Asp)
c.4640G>A (p.Gly1547Asp)
c.4577G>A (p.Gly1526Asp)
c.3575G>A (p.Gly1192Asp)
c.1156G>A
c.1093G>A
n.3113G>A
c.4679G>A (p.Gly1560Asp)
c.4631G>A (p.Gly1544Asp)
c.4607G>A (p.Gly1536Asp)
c.4667G>A (p.Gly1556Asp)
 ClinVar dbSNP
17g.31261773G>CCA399000321NF1c.442G>C (p.Val148Leu)
c.4622G>C (p.Gly1541Ala)
n.746G>C
c.631G>C
n.1285G>C
c.4670G>C (p.Gly1557Ala)
c.4640G>C (p.Gly1547Ala)
c.4577G>C (p.Gly1526Ala)
c.3575G>C (p.Gly1192Ala)
c.1156G>C
c.1093G>C
n.3113G>C
c.4679G>C (p.Gly1560Ala)
c.4631G>C (p.Gly1544Ala)
c.4607G>C (p.Gly1536Ala)
c.4667G>C (p.Gly1556Ala)
 dbSNP
17g.31261773G>TCA399000322NF1c.442G>T (p.Val148Phe)
c.4622G>T (p.Gly1541Val)
n.746G>T
c.631G>T
n.1285G>T
c.4670G>T (p.Gly1557Val)
c.4640G>T (p.Gly1547Val)
c.4577G>T (p.Gly1526Val)
c.3575G>T (p.Gly1192Val)
c.1156G>T
c.1093G>T
n.3113G>T
c.4679G>T (p.Gly1560Val)
c.4631G>T (p.Gly1544Val)
c.4607G>T (p.Gly1536Val)
c.4667G>T (p.Gly1556Val)
17g.31261774T>ACA499233871NF1c.443T>A (p.Val148Asp)
c.4623T>A (p.Gly1541=)
n.747T>A
c.632T>A
n.1286T>A
c.4671T>A (p.Gly1557=)
c.4641T>A (p.Gly1547=)
c.4578T>A (p.Gly1526=)
c.3576T>A (p.Gly1192=)
c.1157T>A
c.1094T>A
n.3114T>A
c.4680T>A (p.Gly1560=)
c.4632T>A (p.Gly1544=)
c.4608T>A (p.Gly1536=)
c.4668T>A (p.Gly1556=)
 dbSNP
17g.31261774T>CCA499233872NF1c.443T>C (p.Val148Ala)
c.4623T>C (p.Gly1541=)
n.747T>C
c.632T>C
n.1286T>C
c.4671T>C (p.Gly1557=)
c.4641T>C (p.Gly1547=)
c.4578T>C (p.Gly1526=)
c.3576T>C (p.Gly1192=)
c.1157T>C
c.1094T>C
n.3114T>C
c.4680T>C (p.Gly1560=)
c.4632T>C (p.Gly1544=)
c.4608T>C (p.Gly1536=)
c.4668T>C (p.Gly1556=)
 dbSNP
17g.31261774T>GCA499233873NF1c.443T>G (p.Val148Gly)
c.4623T>G (p.Gly1541=)
n.747T>G
c.632T>G
n.1286T>G
c.4671T>G (p.Gly1557=)
c.4641T>G (p.Gly1547=)
c.4578T>G (p.Gly1526=)
c.3576T>G (p.Gly1192=)
c.1157T>G
c.1094T>G
n.3114T>G
c.4680T>G (p.Gly1560=)
c.4632T>G (p.Gly1544=)
c.4608T>G (p.Gly1536=)
c.4668T>G (p.Gly1556=)
 ClinVar dbSNP
17g.31261775C>ACA399000324NF1c.444C>A (p.Val148=)
c.4624C>A (p.Pro1542Thr)
n.748C>A
c.633C>A
n.1287C>A
c.4672C>A (p.Pro1558Thr)
c.4642C>A (p.Pro1548Thr)
c.4579C>A (p.Pro1527Thr)
c.3577C>A (p.Pro1193Thr)
c.1158C>A
c.1095C>A
n.3115C>A
c.4681C>A (p.Pro1561Thr)
c.4633C>A (p.Pro1545Thr)
c.4609C>A (p.Pro1537Thr)
c.4669C>A (p.Pro1557Thr)
17g.31261775C=CA2255577421NF1c.444C= (p.Val148=)
c.4624C= (p.Pro1542=)
n.748C=
c.633C=
n.1287C=
c.4672C= (p.Pro1558=)
c.4642C= (p.Pro1548=)
c.4579C= (p.Pro1527=)
c.3577C= (p.Pro1193=)
c.1158C=
c.1095C=
n.3115C=
c.4681C= (p.Pro1561=)
c.4633C= (p.Pro1545=)
c.4609C= (p.Pro1537=)
c.4669C= (p.Pro1557=)
17g.31261775C>GCA399000326NF1c.444C>G (p.Val148=)
c.4624C>G (p.Pro1542Ala)
n.748C>G
c.633C>G
n.1287C>G
c.4672C>G (p.Pro1558Ala)
c.4642C>G (p.Pro1548Ala)
c.4579C>G (p.Pro1527Ala)
c.3577C>G (p.Pro1193Ala)
c.1158C>G
c.1095C>G
n.3115C>G
c.4681C>G (p.Pro1561Ala)
c.4633C>G (p.Pro1545Ala)
c.4609C>G (p.Pro1537Ala)
c.4669C>G (p.Pro1557Ala)
 dbSNP gnomAD v4
17g.31261775C>TCA10580323NF1c.444C>T (p.Val148=)
c.4624C>T (p.Pro1542Ser)
n.748C>T
c.633C>T
n.1287C>T
c.4672C>T (p.Pro1558Ser)
c.4642C>T (p.Pro1548Ser)
c.4579C>T (p.Pro1527Ser)
c.3577C>T (p.Pro1193Ser)
c.1158C>T
c.1095C>T
n.3115C>T
c.4681C>T (p.Pro1561Ser)
c.4633C>T (p.Pro1545Ser)
c.4609C>T (p.Pro1537Ser)
c.4669C>T (p.Pro1557Ser)
 ClinVar dbSNP
17g.31261776delCA2580093301NF1c.445del (p.Leu149SerfsTer15)
c.4625del (p.Pro1542LeufsTer26)
n.749del
c.634del
n.1288del
c.4673del (p.Pro1558LeufsTer26)
c.4643del (p.Pro1548LeufsTer26)
c.4580del (p.Pro1527LeufsTer26)
c.3578del (p.Pro1193LeufsTer26)
c.1159del
c.1096del
n.3116del
c.4682del (p.Pro1561LeufsTer26)
c.4634del (p.Pro1545LeufsTer26)
c.4610del (p.Pro1537LeufsTer26)
c.4670del (p.Pro1557LeufsTer26)
 ClinVar
17g.31261776_31261786delCA645582464NF1c.445_455del (p.Leu149LysfsTer?)
c.4625_4635del (p.Pro1542GlnfsTer12)
n.749_759del
c.634_644del
n.1288_1298del
c.4673_4683del (p.Pro1558GlnfsTer12)
c.4643_4653del (p.Pro1548GlnfsTer12)
c.4580_4590del (p.Pro1527GlnfsTer12)
c.3578_3588del (p.Pro1193GlnfsTer12)
c.1159_1169del
c.1096_1106del
n.3116_3126del
c.4682_4692del (p.Pro1561GlnfsTer12)
c.4634_4644del (p.Pro1545GlnfsTer12)
c.4610_4620del (p.Pro1537GlnfsTer12)
c.4670_4680del (p.Pro1557GlnfsTer12)
 COSMIC
17g.31261776C>ACA399000329NF1c.445C>A (p.Leu149Ile)
c.4625C>A (p.Pro1542His)
n.749C>A
c.634C>A
n.1288C>A
c.4673C>A (p.Pro1558His)
c.4643C>A (p.Pro1548His)
c.4580C>A (p.Pro1527His)
c.3578C>A (p.Pro1193His)
c.1159C>A
c.1096C>A
n.3116C>A
c.4682C>A (p.Pro1561His)
c.4634C>A (p.Pro1545His)
c.4610C>A (p.Pro1537His)
c.4670C>A (p.Pro1557His)
17g.31261776C>GCA399000331NF1c.445C>G (p.Leu149Val)
c.4625C>G (p.Pro1542Arg)
n.749C>G
c.634C>G
n.1288C>G
c.4673C>G (p.Pro1558Arg)
c.4643C>G (p.Pro1548Arg)
c.4580C>G (p.Pro1527Arg)
c.3578C>G (p.Pro1193Arg)
c.1159C>G
c.1096C>G
n.3116C>G
c.4682C>G (p.Pro1561Arg)
c.4634C>G (p.Pro1545Arg)
c.4610C>G (p.Pro1537Arg)
c.4670C>G (p.Pro1557Arg)
 dbSNP
17g.31261776C>TCA399000333NF1c.445C>T (p.Leu149Phe)
c.4625C>T (p.Pro1542Leu)
n.749C>T
c.634C>T
n.1288C>T
c.4673C>T (p.Pro1558Leu)
c.4643C>T (p.Pro1548Leu)
c.4580C>T (p.Pro1527Leu)
c.3578C>T (p.Pro1193Leu)
c.1159C>T
c.1096C>T
n.3116C>T
c.4682C>T (p.Pro1561Leu)
c.4634C>T (p.Pro1545Leu)
c.4610C>T (p.Pro1537Leu)
c.4670C>T (p.Pro1557Leu)
 dbSNP COSMIC
17g.31261777T>ACA499233874NF1c.446T>A (p.Leu149His)
c.4626T>A (p.Pro1542=)
n.750T>A
c.635T>A
n.1289T>A
c.4674T>A (p.Pro1558=)
c.4644T>A (p.Pro1548=)
c.4581T>A (p.Pro1527=)
c.3579T>A (p.Pro1193=)
c.1160T>A
c.1097T>A
n.3117T>A
c.4683T>A (p.Pro1561=)
c.4635T>A (p.Pro1545=)
c.4611T>A (p.Pro1537=)
c.4671T>A (p.Pro1557=)
17g.31261777T>CCA289353636NF1c.446T>C (p.Leu149Pro)
c.4626T>C (p.Pro1542=)
n.750T>C
c.635T>C
n.1289T>C
c.4674T>C (p.Pro1558=)
c.4644T>C (p.Pro1548=)
c.4581T>C (p.Pro1527=)
c.3579T>C (p.Pro1193=)
c.1160T>C
c.1097T>C
n.3117T>C
c.4683T>C (p.Pro1561=)
c.4635T>C (p.Pro1545=)
c.4611T>C (p.Pro1537=)
c.4671T>C (p.Pro1557=)
 dbSNP
17g.31261777T>GCA499233875NF1c.446T>G (p.Leu149Arg)
c.4626T>G (p.Pro1542=)
n.750T>G
c.635T>G
n.1289T>G
c.4674T>G (p.Pro1558=)
c.4644T>G (p.Pro1548=)
c.4581T>G (p.Pro1527=)
c.3579T>G (p.Pro1193=)
c.1160T>G
c.1097T>G
n.3117T>G
c.4683T>G (p.Pro1561=)
c.4635T>G (p.Pro1545=)
c.4611T>G (p.Pro1537=)
c.4671T>G (p.Pro1557=)
17g.31261777T=CA2255577422NF1c.446T= (p.Leu149=)
c.4626T= (p.Pro1542=)
n.750T=
c.635T=
n.1289T=
c.4674T= (p.Pro1558=)
c.4644T= (p.Pro1548=)
c.4581T= (p.Pro1527=)
c.3579T= (p.Pro1193=)
c.1160T=
c.1097T=
n.3117T=
c.4683T= (p.Pro1561=)
c.4635T= (p.Pro1545=)
c.4611T= (p.Pro1537=)
c.4671T= (p.Pro1557=)
17g.31261778C>ACA399000339NF1c.447C>A (p.Leu149=)
c.4627C>A (p.Pro1543Thr)
n.751C>A
c.636C>A
n.1290C>A
c.4675C>A (p.Pro1559Thr)
c.4645C>A (p.Pro1549Thr)
c.4582C>A (p.Pro1528Thr)
c.3580C>A (p.Pro1194Thr)
c.1161C>A
c.1098C>A
n.3118C>A
c.4684C>A (p.Pro1562Thr)
c.4636C>A (p.Pro1546Thr)
c.4612C>A (p.Pro1538Thr)
c.4672C>A (p.Pro1558Thr)
 dbSNP
17g.31261778C=CA2255577423NF1c.447C= (p.Leu149=)
c.4627C= (p.Pro1543=)
n.751C=
c.636C=
n.1290C=
c.4675C= (p.Pro1559=)
c.4645C= (p.Pro1549=)
c.4582C= (p.Pro1528=)
c.3580C= (p.Pro1194=)
c.1161C=
c.1098C=
n.3118C=
c.4684C= (p.Pro1562=)
c.4636C= (p.Pro1546=)
c.4612C= (p.Pro1538=)
c.4672C= (p.Pro1558=)
17g.31261778C>GCA399000341NF1c.447C>G (p.Leu149=)
c.4627C>G (p.Pro1543Ala)
n.751C>G
c.636C>G
n.1290C>G
c.4675C>G (p.Pro1559Ala)
c.4645C>G (p.Pro1549Ala)
c.4582C>G (p.Pro1528Ala)
c.3580C>G (p.Pro1194Ala)
c.1161C>G
c.1098C>G
n.3118C>G
c.4684C>G (p.Pro1562Ala)
c.4636C>G (p.Pro1546Ala)
c.4612C>G (p.Pro1538Ala)
c.4672C>G (p.Pro1558Ala)
 ClinVar dbSNP
17g.31261778C>TCA399000337NF1c.447C>T (p.Leu149=)
c.4627C>T (p.Pro1543Ser)
n.751C>T
c.636C>T
n.1290C>T
c.4675C>T (p.Pro1559Ser)
c.4645C>T (p.Pro1549Ser)
c.4582C>T (p.Pro1528Ser)
c.3580C>T (p.Pro1194Ser)
c.1161C>T
c.1098C>T
n.3118C>T
c.4684C>T (p.Pro1562Ser)
c.4636C>T (p.Pro1546Ser)
c.4612C>T (p.Pro1538Ser)
c.4672C>T (p.Pro1558Ser)
 dbSNP
17g.31261779delCA2695225402NF1c.448del (p.Gln150ArgfsTer14)
c.4628del (p.Pro1543GlnfsTer25)
n.752del
c.637del
n.1291del
c.4676del (p.Pro1559GlnfsTer25)
c.4646del (p.Pro1549GlnfsTer25)
c.4583del (p.Pro1528GlnfsTer25)
c.3581del (p.Pro1194GlnfsTer25)
c.1162del
c.1099del
n.3119del
c.4685del (p.Pro1562GlnfsTer25)
c.4637del (p.Pro1546GlnfsTer25)
c.4613del (p.Pro1538GlnfsTer25)
c.4673del (p.Pro1558GlnfsTer25)
17g.31261779C>ACA399000343NF1c.448C>A (p.Gln150Lys)
c.4628C>A (p.Pro1543Gln)
n.752C>A
c.637C>A
n.1291C>A
c.4676C>A (p.Pro1559Gln)
c.4646C>A (p.Pro1549Gln)
c.4583C>A (p.Pro1528Gln)
c.3581C>A (p.Pro1194Gln)
c.1162C>A
c.1099C>A
n.3119C>A
c.4685C>A (p.Pro1562Gln)
c.4637C>A (p.Pro1546Gln)
c.4613C>A (p.Pro1538Gln)
c.4673C>A (p.Pro1558Gln)
 dbSNP
17g.31261779C>GCA399000347NF1c.448C>G (p.Gln150Glu)
c.4628C>G (p.Pro1543Arg)
n.752C>G
c.637C>G
n.1291C>G
c.4676C>G (p.Pro1559Arg)
c.4646C>G (p.Pro1549Arg)
c.4583C>G (p.Pro1528Arg)
c.3581C>G (p.Pro1194Arg)
c.1162C>G
c.1099C>G
n.3119C>G
c.4685C>G (p.Pro1562Arg)
c.4637C>G (p.Pro1546Arg)
c.4613C>G (p.Pro1538Arg)
c.4673C>G (p.Pro1558Arg)
 ClinVar dbSNP
17g.31261779C>TCA399000345NF1c.448C>T (p.Gln150Ter)
c.4628C>T (p.Pro1543Leu)
n.752C>T
c.637C>T
n.1291C>T
c.4676C>T (p.Pro1559Leu)
c.4646C>T (p.Pro1549Leu)
c.4583C>T (p.Pro1528Leu)
c.3581C>T (p.Pro1194Leu)
c.1162C>T
c.1099C>T
n.3119C>T
c.4685C>T (p.Pro1562Leu)
c.4637C>T (p.Pro1546Leu)
c.4613C>T (p.Pro1538Leu)
c.4673C>T (p.Pro1558Leu)
 dbSNP
17g.31261780A=CA2255577424NF1c.449A= (p.Gln150=)
c.4629A= (p.Pro1543=)
n.753A=
c.638A=
n.1292A=
c.4677A= (p.Pro1559=)
c.4647A= (p.Pro1549=)
c.4584A= (p.Pro1528=)
c.3582A= (p.Pro1194=)
c.1163A=
c.1100A=
n.3120A=
c.4686A= (p.Pro1562=)
c.4638A= (p.Pro1546=)
c.4614A= (p.Pro1538=)
c.4674A= (p.Pro1558=)
17g.31261780A>CCA499233876NF1c.449A>C (p.Gln150Pro)
c.4629A>C (p.Pro1543=)
n.753A>C
c.638A>C
n.1292A>C
c.4677A>C (p.Pro1559=)
c.4647A>C (p.Pro1549=)
c.4584A>C (p.Pro1528=)
c.3582A>C (p.Pro1194=)
c.1163A>C
c.1100A>C
n.3120A>C
c.4686A>C (p.Pro1562=)
c.4638A>C (p.Pro1546=)
c.4614A>C (p.Pro1538=)
c.4674A>C (p.Pro1558=)
17g.31261780A>GCA499233877NF1c.449A>G (p.Gln150Arg)
c.4629A>G (p.Pro1543=)
n.753A>G
c.638A>G
n.1292A>G
c.4677A>G (p.Pro1559=)
c.4647A>G (p.Pro1549=)
c.4584A>G (p.Pro1528=)
c.3582A>G (p.Pro1194=)
c.1163A>G
c.1100A>G
n.3120A>G
c.4686A>G (p.Pro1562=)
c.4638A>G (p.Pro1546=)
c.4614A>G (p.Pro1538=)
c.4674A>G (p.Pro1558=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31261780A>TCA499233878NF1c.449A>T (p.Gln150Leu)
c.4629A>T (p.Pro1543=)
n.753A>T
c.638A>T
n.1292A>T
c.4677A>T (p.Pro1559=)
c.4647A>T (p.Pro1549=)
c.4584A>T (p.Pro1528=)
c.3582A>T (p.Pro1194=)
c.1163A>T
c.1100A>T
n.3120A>T
c.4686A>T (p.Pro1562=)
c.4638A>T (p.Pro1546=)
c.4614A>T (p.Pro1538=)
c.4674A>T (p.Pro1558=)
17g.31261782_31261783delCA2695225403NF1c.451_452del (p.Ser151HisfsTer?)
c.4631_4632del (p.Glu1544AlafsTer13)
n.755_756del
c.640_641del
n.1294_1295del
c.4679_4680del (p.Glu1560AlafsTer13)
c.4649_4650del (p.Glu1550AlafsTer13)
c.4586_4587del (p.Glu1529AlafsTer13)
c.3584_3585del (p.Glu1195AlafsTer13)
c.1165_1166del
c.1102_1103del
n.3122_3123del
c.4688_4689del (p.Glu1563AlafsTer13)
c.4640_4641del (p.Glu1547AlafsTer13)
c.4616_4617del (p.Glu1539AlafsTer13)
c.4676_4677del (p.Glu1559AlafsTer13)
17g.31261781G>ACA399000348NF1c.450G>A (p.Gln150=)
c.4630G>A (p.Glu1544Lys)
n.754G>A
c.639G>A
n.1293G>A
c.4678G>A (p.Glu1560Lys)
c.4648G>A (p.Glu1550Lys)
c.4585G>A (p.Glu1529Lys)
c.3583G>A (p.Glu1195Lys)
c.1164G>A
c.1101G>A
n.3121G>A
c.4687G>A (p.Glu1563Lys)
c.4639G>A (p.Glu1547Lys)
c.4615G>A (p.Glu1539Lys)
c.4675G>A (p.Glu1559Lys)
 dbSNP
17g.31261781G>CCA399000349NF1c.450G>C (p.Gln150His)
c.4630G>C (p.Glu1544Gln)
n.754G>C
c.639G>C
n.1293G>C
c.4678G>C (p.Glu1560Gln)
c.4648G>C (p.Glu1550Gln)
c.4585G>C (p.Glu1529Gln)
c.3583G>C (p.Glu1195Gln)
c.1164G>C
c.1101G>C
n.3121G>C
c.4687G>C (p.Glu1563Gln)
c.4639G>C (p.Glu1547Gln)
c.4615G>C (p.Glu1539Gln)
c.4675G>C (p.Glu1559Gln)
 dbSNP
17g.31261781G>TCA399000350NF1c.450G>T (p.Gln150His)
c.4630G>T (p.Glu1544Ter)
n.754G>T
c.639G>T
n.1293G>T
c.4678G>T (p.Glu1560Ter)
c.4648G>T (p.Glu1550Ter)
c.4585G>T (p.Glu1529Ter)
c.3583G>T (p.Glu1195Ter)
c.1164G>T
c.1101G>T
n.3121G>T
c.4687G>T (p.Glu1563Ter)
c.4639G>T (p.Glu1547Ter)
c.4615G>T (p.Glu1539Ter)
c.4675G>T (p.Glu1559Ter)
17g.31261782A=CA2255577425NF1c.451A= (p.Ser151=)
c.4631A= (p.Glu1544=)
n.755A=
c.640A=
n.1294A=
c.4679A= (p.Glu1560=)
c.4649A= (p.Glu1550=)
c.4586A= (p.Glu1529=)
c.3584A= (p.Glu1195=)
c.1165A=
c.1102A=
n.3122A=
c.4688A= (p.Glu1563=)
c.4640A= (p.Glu1547=)
c.4616A= (p.Glu1539=)
c.4676A= (p.Glu1559=)
17g.31261782A>CCA399000353NF1c.451A>C (p.Ser151Arg)
c.4631A>C (p.Glu1544Ala)
n.755A>C
c.640A>C
n.1294A>C
c.4679A>C (p.Glu1560Ala)
c.4649A>C (p.Glu1550Ala)
c.4586A>C (p.Glu1529Ala)
c.3584A>C (p.Glu1195Ala)
c.1165A>C
c.1102A>C
n.3122A>C
c.4688A>C (p.Glu1563Ala)
c.4640A>C (p.Glu1547Ala)
c.4616A>C (p.Glu1539Ala)
c.4676A>C (p.Glu1559Ala)
17g.31261782A>GCA399000355NF1c.451A>G (p.Ser151Gly)
c.4631A>G (p.Glu1544Gly)
n.755A>G
c.640A>G
n.1294A>G
c.4679A>G (p.Glu1560Gly)
c.4649A>G (p.Glu1550Gly)
c.4586A>G (p.Glu1529Gly)
c.3584A>G (p.Glu1195Gly)
c.1165A>G
c.1102A>G
n.3122A>G
c.4688A>G (p.Glu1563Gly)
c.4640A>G (p.Glu1547Gly)
c.4616A>G (p.Glu1539Gly)
c.4676A>G (p.Glu1559Gly)
 ClinVar dbSNP
17g.31261782A>TCA399000356NF1c.451A>T (p.Ser151Cys)
c.4631A>T (p.Glu1544Val)
n.755A>T
c.640A>T
n.1294A>T
c.4679A>T (p.Glu1560Val)
c.4649A>T (p.Glu1550Val)
c.4586A>T (p.Glu1529Val)
c.3584A>T (p.Glu1195Val)
c.1165A>T
c.1102A>T
n.3122A>T
c.4688A>T (p.Glu1563Val)
c.4640A>T (p.Glu1547Val)
c.4616A>T (p.Glu1539Val)
c.4676A>T (p.Glu1559Val)
17g.31261783G>ACA499233882NF1c.452G>A (p.Ser151Asn)
c.4632G>A (p.Glu1544=)
n.756G>A
c.641G>A
n.1295G>A
c.4680G>A (p.Glu1560=)
c.4650G>A (p.Glu1550=)
c.4587G>A (p.Glu1529=)
c.3585G>A (p.Glu1195=)
c.1166G>A
c.1103G>A
n.3123G>A
c.4689G>A (p.Glu1563=)
c.4641G>A (p.Glu1547=)
c.4617G>A (p.Glu1539=)
c.4677G>A (p.Glu1559=)
 dbSNP
17g.31261783G>CCA399000358NF1c.452G>C (p.Ser151Thr)
c.4632G>C (p.Glu1544Asp)
n.756G>C
c.641G>C
n.1295G>C
c.4680G>C (p.Glu1560Asp)
c.4650G>C (p.Glu1550Asp)
c.4587G>C (p.Glu1529Asp)
c.3585G>C (p.Glu1195Asp)
c.1166G>C
c.1103G>C
n.3123G>C
c.4689G>C (p.Glu1563Asp)
c.4641G>C (p.Glu1547Asp)
c.4617G>C (p.Glu1539Asp)
c.4677G>C (p.Glu1559Asp)
 dbSNP
17g.31261783G>TCA399000360NF1c.452G>T (p.Ser151Ile)
c.4632G>T (p.Glu1544Asp)
n.756G>T
c.641G>T
n.1295G>T
c.4680G>T (p.Glu1560Asp)
c.4650G>T (p.Glu1550Asp)
c.4587G>T (p.Glu1529Asp)
c.3585G>T (p.Glu1195Asp)
c.1166G>T
c.1103G>T
n.3123G>T
c.4689G>T (p.Glu1563Asp)
c.4641G>T (p.Glu1547Asp)
c.4617G>T (p.Glu1539Asp)
c.4677G>T (p.Glu1559Asp)
17g.31261784C>ACA399000362NF1c.453C>A (p.Ser151Arg)
c.4633C>A (p.His1545Asn)
n.757C>A
c.642C>A
n.1296C>A
c.4681C>A (p.His1561Asn)
c.4651C>A (p.His1551Asn)
c.4588C>A (p.His1530Asn)
c.3586C>A (p.His1196Asn)
c.1167C>A
c.1104C>A
n.3124C>A
c.4690C>A (p.His1564Asn)
c.4642C>A (p.His1548Asn)
c.4618C>A (p.His1540Asn)
c.4678C>A (p.His1560Asn)
17g.31261784C>GCA399000363NF1c.453C>G (p.Ser151Arg)
c.4633C>G (p.His1545Asp)
n.757C>G
c.642C>G
n.1296C>G
c.4681C>G (p.His1561Asp)
c.4651C>G (p.His1551Asp)
c.4588C>G (p.His1530Asp)
c.3586C>G (p.His1196Asp)
c.1167C>G
c.1104C>G
n.3124C>G
c.4690C>G (p.His1564Asp)
c.4642C>G (p.His1548Asp)
c.4618C>G (p.His1540Asp)
c.4678C>G (p.His1560Asp)
 dbSNP
17g.31261784C>TCA399000365NF1c.453C>T (p.Ser151=)
c.4633C>T (p.His1545Tyr)
n.757C>T
c.642C>T
n.1296C>T
c.4681C>T (p.His1561Tyr)
c.4651C>T (p.His1551Tyr)
c.4588C>T (p.His1530Tyr)
c.3586C>T (p.His1196Tyr)
c.1167C>T
c.1104C>T
n.3124C>T
c.4690C>T (p.His1564Tyr)
c.4642C>T (p.His1548Tyr)
c.4618C>T (p.His1540Tyr)
c.4678C>T (p.His1560Tyr)
 dbSNP
17g.31261785A=CA2255577426NF1c.454A= (p.Thr152=)
c.4634A= (p.His1545=)
n.758A=
c.643A=
n.1297A=
c.4682A= (p.His1561=)
c.4652A= (p.His1551=)
c.4589A= (p.His1530=)
c.3587A= (p.His1196=)
c.1168A=
c.1105A=
n.3125A=
c.4691A= (p.His1564=)
c.4643A= (p.His1548=)
c.4619A= (p.His1540=)
c.4679A= (p.His1560=)
17g.31261785A>CCA399000370NF1c.454A>C (p.Thr152Pro)
c.4634A>C (p.His1545Pro)
n.758A>C
c.643A>C
n.1297A>C
c.4682A>C (p.His1561Pro)
c.4652A>C (p.His1551Pro)
c.4589A>C (p.His1530Pro)
c.3587A>C (p.His1196Pro)
c.1168A>C
c.1105A>C
n.3125A>C
c.4691A>C (p.His1564Pro)
c.4643A>C (p.His1548Pro)
c.4619A>C (p.His1540Pro)
c.4679A>C (p.His1560Pro)
 dbSNP
17g.31261785A>GCA8486452NF1c.454A>G (p.Thr152Ala)
c.4634A>G (p.His1545Arg)
n.758A>G
c.643A>G
n.1297A>G
c.4682A>G (p.His1561Arg)
c.4652A>G (p.His1551Arg)
c.4589A>G (p.His1530Arg)
c.3587A>G (p.His1196Arg)
c.1168A>G
c.1105A>G
n.3125A>G
c.4691A>G (p.His1564Arg)
c.4643A>G (p.His1548Arg)
c.4619A>G (p.His1540Arg)
c.4679A>G (p.His1560Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31261785A>TCA399000368NF1c.454A>T (p.Thr152Ser)
c.4634A>T (p.His1545Leu)
n.758A>T
c.643A>T
n.1297A>T
c.4682A>T (p.His1561Leu)
c.4652A>T (p.His1551Leu)
c.4589A>T (p.His1530Leu)
c.3587A>T (p.His1196Leu)
c.1168A>T
c.1105A>T
n.3125A>T
c.4691A>T (p.His1564Leu)
c.4643A>T (p.His1548Leu)
c.4619A>T (p.His1540Leu)
c.4679A>T (p.His1560Leu)
 dbSNP
17g.31261787_31261790delCA2695225404NF1c.456_459del (p.Asn153CysfsTer10)
c.4636_4639del (p.Lys1546LeufsTer21)
n.760_763del
c.645_648del
n.1299_1302del
c.4684_4687del (p.Lys1562LeufsTer21)
c.4654_4657del (p.Lys1552LeufsTer21)
c.4591_4594del (p.Lys1531LeufsTer21)
c.3589_3592del (p.Lys1197LeufsTer21)
c.1170_1173del
c.1107_1110del
n.3127_3130del
c.4693_4696del (p.Lys1565LeufsTer21)
c.4645_4648del (p.Lys1549LeufsTer21)
c.4621_4624del (p.Lys1541LeufsTer21)
c.4681_4684del (p.Lys1561LeufsTer21)
17g.31261786C>ACA399000372NF1c.455C>A (p.Thr152Lys)
c.4635C>A (p.His1545Gln)
n.759C>A
c.644C>A
n.1298C>A
c.4683C>A (p.His1561Gln)
c.4653C>A (p.His1551Gln)
c.4590C>A (p.His1530Gln)
c.3588C>A (p.His1196Gln)
c.1169C>A
c.1106C>A
n.3126C>A
c.4692C>A (p.His1564Gln)
c.4644C>A (p.His1548Gln)
c.4620C>A (p.His1540Gln)
c.4680C>A (p.His1560Gln)
17g.31261786C>GCA399000373NF1c.455C>G (p.Thr152Arg)
c.4635C>G (p.His1545Gln)
n.759C>G
c.644C>G
n.1298C>G
c.4683C>G (p.His1561Gln)
c.4653C>G (p.His1551Gln)
c.4590C>G (p.His1530Gln)
c.3588C>G (p.His1196Gln)
c.1169C>G
c.1106C>G
n.3126C>G
c.4692C>G (p.His1564Gln)
c.4644C>G (p.His1548Gln)
c.4620C>G (p.His1540Gln)
c.4680C>G (p.His1560Gln)
17g.31261786C>TCA499233883NF1c.455C>T (p.Thr152Ile)
c.4635C>T (p.His1545=)
n.759C>T
c.644C>T
n.1298C>T
c.4683C>T (p.His1561=)
c.4653C>T (p.His1551=)
c.4590C>T (p.His1530=)
c.3588C>T (p.His1196=)
c.1169C>T
c.1106C>T
n.3126C>T
c.4692C>T (p.His1564=)
c.4644C>T (p.His1548=)
c.4620C>T (p.His1540=)
c.4680C>T (p.His1560=)
 ClinVar dbSNP
17g.31261787A>CCA399000376NF1c.456A>C (p.Thr152=)
c.4636A>C (p.Lys1546Gln)
n.760A>C
c.645A>C
n.1299A>C
c.4684A>C (p.Lys1562Gln)
c.4654A>C (p.Lys1552Gln)
c.4591A>C (p.Lys1531Gln)
c.3589A>C (p.Lys1197Gln)
c.1170A>C
c.1107A>C
n.3127A>C
c.4693A>C (p.Lys1565Gln)
c.4645A>C (p.Lys1549Gln)
c.4621A>C (p.Lys1541Gln)
c.4681A>C (p.Lys1561Gln)
17g.31261787A>GCA399000378NF1c.456A>G (p.Thr152=)
c.4636A>G (p.Lys1546Glu)
n.760A>G
c.645A>G
n.1299A>G
c.4684A>G (p.Lys1562Glu)
c.4654A>G (p.Lys1552Glu)
c.4591A>G (p.Lys1531Glu)
c.3589A>G (p.Lys1197Glu)
c.1170A>G
c.1107A>G
n.3127A>G
c.4693A>G (p.Lys1565Glu)
c.4645A>G (p.Lys1549Glu)
c.4621A>G (p.Lys1541Glu)
c.4681A>G (p.Lys1561Glu)
 dbSNP
17g.31261787A>TCA399000379NF1c.456A>T (p.Thr152=)
c.4636A>T (p.Lys1546Ter)
n.760A>T
c.645A>T
n.1299A>T
c.4684A>T (p.Lys1562Ter)
c.4654A>T (p.Lys1552Ter)
c.4591A>T (p.Lys1531Ter)
c.3589A>T (p.Lys1197Ter)
c.1170A>T
c.1107A>T
n.3127A>T
c.4693A>T (p.Lys1565Ter)
c.4645A>T (p.Lys1549Ter)
c.4621A>T (p.Lys1541Ter)
c.4681A>T (p.Lys1561Ter)
 ClinVar
17g.31261789dupCA2695225405NF1c.458dup (p.Asn153LysfsTer?)
c.4638dup (p.Pro1547ThrfsTer11)
n.762dup
c.647dup
n.1301dup
c.4686dup (p.Pro1563ThrfsTer11)
c.4656dup (p.Pro1553ThrfsTer11)
c.4593dup (p.Pro1532ThrfsTer11)
c.3591dup (p.Pro1198ThrfsTer11)
c.1172dup
c.1109dup
n.3129dup
c.4695dup (p.Pro1566ThrfsTer11)
c.4647dup (p.Pro1550ThrfsTer11)
c.4623dup (p.Pro1542ThrfsTer11)
c.4683dup (p.Pro1562ThrfsTer11)
17g.31261788A=CA2255577427NF1c.457A= (p.Asn153=)
c.4637A= (p.Lys1546=)
n.761A=
c.646A=
n.1300A=
c.4685A= (p.Lys1562=)
c.4655A= (p.Lys1552=)
c.4592A= (p.Lys1531=)
c.3590A= (p.Lys1197=)
c.1171A=
c.1108A=
n.3128A=
c.4694A= (p.Lys1565=)
c.4646A= (p.Lys1549=)
c.4622A= (p.Lys1541=)
c.4682A= (p.Lys1561=)
17g.31261788A>CCA399000381NF1c.457A>C (p.Asn153His)
c.4637A>C (p.Lys1546Thr)
n.761A>C
c.646A>C
n.1300A>C
c.4685A>C (p.Lys1562Thr)
c.4655A>C (p.Lys1552Thr)
c.4592A>C (p.Lys1531Thr)
c.3590A>C (p.Lys1197Thr)
c.1171A>C
c.1108A>C
n.3128A>C
c.4694A>C (p.Lys1565Thr)
c.4646A>C (p.Lys1549Thr)
c.4622A>C (p.Lys1541Thr)
c.4682A>C (p.Lys1561Thr)
 COSMIC COSMIC
17g.31261788A>GCA399000383NF1c.457A>G (p.Asn153Asp)
c.4637A>G (p.Lys1546Arg)
n.761A>G
c.646A>G
n.1300A>G
c.4685A>G (p.Lys1562Arg)
c.4655A>G (p.Lys1552Arg)
c.4592A>G (p.Lys1531Arg)
c.3590A>G (p.Lys1197Arg)
c.1171A>G
c.1108A>G
n.3128A>G
c.4694A>G (p.Lys1565Arg)
c.4646A>G (p.Lys1549Arg)
c.4622A>G (p.Lys1541Arg)
c.4682A>G (p.Lys1561Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31261788A>TCA399000384NF1c.457A>T (p.Asn153Tyr)
c.4637A>T (p.Lys1546Ile)
n.761A>T
c.646A>T
n.1300A>T
c.4685A>T (p.Lys1562Ile)
c.4655A>T (p.Lys1552Ile)
c.4592A>T (p.Lys1531Ile)
c.3590A>T (p.Lys1197Ile)
c.1171A>T
c.1108A>T
n.3128A>T
c.4694A>T (p.Lys1565Ile)
c.4646A>T (p.Lys1549Ile)
c.4622A>T (p.Lys1541Ile)
c.4682A>T (p.Lys1561Ile)
17g.31261789A>CCA399000387NF1c.458A>C (p.Asn153Thr)
c.4638A>C (p.Lys1546Asn)
n.762A>C
c.647A>C
n.1301A>C
c.4686A>C (p.Lys1562Asn)
c.4656A>C (p.Lys1552Asn)
c.4593A>C (p.Lys1531Asn)
c.3591A>C (p.Lys1197Asn)
c.1172A>C
c.1109A>C
n.3129A>C
c.4695A>C (p.Lys1565Asn)
c.4647A>C (p.Lys1549Asn)
c.4623A>C (p.Lys1541Asn)
c.4683A>C (p.Lys1561Asn)
 dbSNP
17g.31261789A>GCA499233884NF1c.458A>G (p.Asn153Ser)
c.4638A>G (p.Lys1546=)
n.762A>G
c.647A>G
n.1301A>G
c.4686A>G (p.Lys1562=)
c.4656A>G (p.Lys1552=)
c.4593A>G (p.Lys1531=)
c.3591A>G (p.Lys1197=)
c.1172A>G
c.1109A>G
n.3129A>G
c.4695A>G (p.Lys1565=)
c.4647A>G (p.Lys1549=)
c.4623A>G (p.Lys1541=)
c.4683A>G (p.Lys1561=)
17g.31261789A>TCA399000389NF1c.458A>T (p.Asn153Ile)
c.4638A>T (p.Lys1546Asn)
n.762A>T
c.647A>T
n.1301A>T
c.4686A>T (p.Lys1562Asn)
c.4656A>T (p.Lys1552Asn)
c.4593A>T (p.Lys1531Asn)
c.3591A>T (p.Lys1197Asn)
c.1172A>T
c.1109A>T
n.3129A>T
c.4695A>T (p.Lys1565Asn)
c.4647A>T (p.Lys1549Asn)
c.4623A>T (p.Lys1541Asn)
c.4683A>T (p.Lys1561Asn)
 dbSNP
17g.31261789_31261790delinsACCA2255577428NF1c.458_459delinsAC (p.Asn153=)
c.4638_4639delinsAC (p.Lys1546=)
n.762_763delinsAC
c.647_648delinsAC
n.1301_1302delinsAC
c.4686_4687delinsAC (p.Lys1562=)
c.4656_4657delinsAC (p.Lys1552=)
c.4593_4594delinsAC (p.Lys1531=)
c.3591_3592delinsAC (p.Lys1197=)
c.1172_1173delinsAC
c.1109_1110delinsAC
n.3129_3130delinsAC
c.4695_4696delinsAC (p.Lys1565=)
c.4647_4648delinsAC (p.Lys1549=)
c.4623_4624delinsAC (p.Lys1541=)
c.4683_4684delinsAC (p.Lys1561=)
17g.31261790C>ACA399000392NF1c.459C>A (p.Asn153Lys)
c.4639C>A (p.Pro1547Thr)
n.763C>A
c.648C>A
n.1302C>A
c.4687C>A (p.Pro1563Thr)
c.4657C>A (p.Pro1553Thr)
c.4594C>A (p.Pro1532Thr)
c.3592C>A (p.Pro1198Thr)
c.1173C>A
c.1110C>A
n.3130C>A
c.4696C>A (p.Pro1566Thr)
c.4648C>A (p.Pro1550Thr)
c.4624C>A (p.Pro1542Thr)
c.4684C>A (p.Pro1562Thr)
 dbSNP
17g.31261790C=CA2255577429NF1c.459C= (p.Asn153=)
c.4639C= (p.Pro1547=)
n.763C=
c.648C=
n.1302C=
c.4687C= (p.Pro1563=)
c.4657C= (p.Pro1553=)
c.4594C= (p.Pro1532=)
c.3592C= (p.Pro1198=)
c.1173C=
c.1110C=
n.3130C=
c.4696C= (p.Pro1566=)
c.4648C= (p.Pro1550=)
c.4624C= (p.Pro1542=)
c.4684C= (p.Pro1562=)
17g.31261790C>GCA399000394NF1c.459C>G (p.Asn153Lys)
c.4639C>G (p.Pro1547Ala)
n.763C>G
c.648C>G
n.1302C>G
c.4687C>G (p.Pro1563Ala)
c.4657C>G (p.Pro1553Ala)
c.4594C>G (p.Pro1532Ala)
c.3592C>G (p.Pro1198Ala)
c.1173C>G
c.1110C>G
n.3130C>G
c.4696C>G (p.Pro1566Ala)
c.4648C>G (p.Pro1550Ala)
c.4624C>G (p.Pro1542Ala)
c.4684C>G (p.Pro1562Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31261790C>TCA289353653NF1c.459C>T (p.Asn153=)
c.4639C>T (p.Pro1547Ser)
n.763C>T
c.648C>T
n.1302C>T
c.4687C>T (p.Pro1563Ser)
c.4657C>T (p.Pro1553Ser)
c.4594C>T (p.Pro1532Ser)
c.3592C>T (p.Pro1198Ser)
c.1173C>T
c.1110C>T
n.3130C>T
c.4696C>T (p.Pro1566Ser)
c.4648C>T (p.Pro1550Ser)
c.4624C>T (p.Pro1542Ser)
c.4684C>T (p.Pro1562Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31261791delCA658824767NF1c.460del (p.Leu154CysfsTer10)
c.4640del (p.Pro1547LeufsTer21)
n.764del
c.649del
n.1303del
c.4688del (p.Pro1563LeufsTer21)
c.4658del (p.Pro1553LeufsTer21)
c.4595del (p.Pro1532LeufsTer21)
c.3593del (p.Pro1198LeufsTer21)
c.1174del
c.1111del
n.3131del
c.4697del (p.Pro1566LeufsTer21)
c.4649del (p.Pro1550LeufsTer21)
c.4625del (p.Pro1542LeufsTer21)
c.4685del (p.Pro1562LeufsTer21)
 ClinVar dbSNP
17g.31261791C>ACA399000396NF1c.460C>A (p.Leu154Met)
c.4640C>A (p.Pro1547His)
n.764C>A
c.649C>A
n.1303C>A
c.4688C>A (p.Pro1563His)
c.4658C>A (p.Pro1553His)
c.4595C>A (p.Pro1532His)
c.3593C>A (p.Pro1198His)
c.1174C>A
c.1111C>A
n.3131C>A
c.4697C>A (p.Pro1566His)
c.4649C>A (p.Pro1550His)
c.4625C>A (p.Pro1542His)
c.4685C>A (p.Pro1562His)
 dbSNP
17g.31261791C=CA2255577430NF1c.460C= (p.Leu154=)
c.4640C= (p.Pro1547=)
n.764C=
c.649C=
n.1303C=
c.4688C= (p.Pro1563=)
c.4658C= (p.Pro1553=)
c.4595C= (p.Pro1532=)
c.3593C= (p.Pro1198=)
c.1174C=
c.1111C=
n.3131C=
c.4697C= (p.Pro1566=)
c.4649C= (p.Pro1550=)
c.4625C= (p.Pro1542=)
c.4685C= (p.Pro1562=)
17g.31261791C>GCA399000398NF1c.460C>G (p.Leu154Val)
c.4640C>G (p.Pro1547Arg)
n.764C>G
c.649C>G
n.1303C>G
c.4688C>G (p.Pro1563Arg)
c.4658C>G (p.Pro1553Arg)
c.4595C>G (p.Pro1532Arg)
c.3593C>G (p.Pro1198Arg)
c.1174C>G
c.1111C>G
n.3131C>G
c.4697C>G (p.Pro1566Arg)
c.4649C>G (p.Pro1550Arg)
c.4625C>G (p.Pro1542Arg)
c.4685C>G (p.Pro1562Arg)
 ClinVar dbSNP
17g.31261791C>TCA399000400NF1c.460C>T (p.Leu154=)
c.4640C>T (p.Pro1547Leu)
n.764C>T
c.649C>T
n.1303C>T
c.4688C>T (p.Pro1563Leu)
c.4658C>T (p.Pro1553Leu)
c.4595C>T (p.Pro1532Leu)
c.3593C>T (p.Pro1198Leu)
c.1174C>T
c.1111C>T
n.3131C>T
c.4697C>T (p.Pro1566Leu)
c.4649C>T (p.Pro1550Leu)
c.4625C>T (p.Pro1542Leu)
c.4685C>T (p.Pro1562Leu)
 ClinVar dbSNP
17g.31261792T>ACA499233887NF1c.461T>A (p.Leu154Gln)
c.4641T>A (p.Pro1547=)
n.765T>A
c.650T>A
n.1304T>A
c.4689T>A (p.Pro1563=)
c.4659T>A (p.Pro1553=)
c.4596T>A (p.Pro1532=)
c.3594T>A (p.Pro1198=)
c.1175T>A
c.1112T>A
n.3132T>A
c.4698T>A (p.Pro1566=)
c.4650T>A (p.Pro1550=)
c.4626T>A (p.Pro1542=)
c.4686T>A (p.Pro1562=)
 dbSNP
17g.31261792T>CCA499233889NF1c.461T>C (p.Leu154Pro)
c.4641T>C (p.Pro1547=)
n.765T>C
c.650T>C
n.1304T>C
c.4689T>C (p.Pro1563=)
c.4659T>C (p.Pro1553=)
c.4596T>C (p.Pro1532=)
c.3594T>C (p.Pro1198=)
c.1175T>C
c.1112T>C
n.3132T>C
c.4698T>C (p.Pro1566=)
c.4650T>C (p.Pro1550=)
c.4626T>C (p.Pro1542=)
c.4686T>C (p.Pro1562=)
 ClinVar dbSNP
17g.31261792T>GCA499233890NF1c.461T>G (p.Leu154Arg)
c.4641T>G (p.Pro1547=)
n.765T>G
c.650T>G
n.1304T>G
c.4689T>G (p.Pro1563=)
c.4659T>G (p.Pro1553=)
c.4596T>G (p.Pro1532=)
c.3594T>G (p.Pro1198=)
c.1175T>G
c.1112T>G
n.3132T>G
c.4698T>G (p.Pro1566=)
c.4650T>G (p.Pro1550=)
c.4626T>G (p.Pro1542=)
c.4686T>G (p.Pro1562=)
17g.31261793G>ACA399000401NF1c.462G>A (p.Leu154=)
c.4642G>A (p.Val1548Met)
n.766G>A
c.651G>A
n.1305G>A
c.4690G>A (p.Val1564Met)
c.4660G>A (p.Val1554Met)
c.4597G>A (p.Val1533Met)
c.3595G>A (p.Val1199Met)
c.1176G>A
c.1113G>A
n.3133G>A
c.4699G>A (p.Val1567Met)
c.4651G>A (p.Val1551Met)
c.4627G>A (p.Val1543Met)
c.4687G>A (p.Val1563Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31261793G>CCA399000403NF1c.462G>C (p.Leu154=)
c.4642G>C (p.Val1548Leu)
n.766G>C
c.651G>C
n.1305G>C
c.4690G>C (p.Val1564Leu)
c.4660G>C (p.Val1554Leu)
c.4597G>C (p.Val1533Leu)
c.3595G>C (p.Val1199Leu)
c.1176G>C
c.1113G>C
n.3133G>C
c.4699G>C (p.Val1567Leu)
c.4651G>C (p.Val1551Leu)
c.4627G>C (p.Val1543Leu)
c.4687G>C (p.Val1563Leu)
 dbSNP
17g.31261793G=CA2255577431NF1c.462G= (p.Leu154=)
c.4642G= (p.Val1548=)
n.766G=
c.651G=
n.1305G=
c.4690G= (p.Val1564=)
c.4660G= (p.Val1554=)
c.4597G= (p.Val1533=)
c.3595G= (p.Val1199=)
c.1176G=
c.1113G=
n.3133G=
c.4699G= (p.Val1567=)
c.4651G= (p.Val1551=)
c.4627G= (p.Val1543=)
c.4687G= (p.Val1563=)
17g.31261793G>TCA399000405NF1c.462G>T (p.Leu154=)
c.4642G>T (p.Val1548Leu)
n.766G>T
c.651G>T
n.1305G>T
c.4690G>T (p.Val1564Leu)
c.4660G>T (p.Val1554Leu)
c.4597G>T (p.Val1533Leu)
c.3595G>T (p.Val1199Leu)
c.1176G>T
c.1113G>T
n.3133G>T
c.4699G>T (p.Val1567Leu)
c.4651G>T (p.Val1551Leu)
c.4627G>T (p.Val1543Leu)
c.4687G>T (p.Val1563Leu)
17g.31261794T>ACA399000407NF1c.463T>A (p.Trp155Arg)
c.4643T>A (p.Val1548Glu)
n.767T>A
c.652T>A
n.1306T>A
c.4691T>A (p.Val1564Glu)
c.4661T>A (p.Val1554Glu)
c.4598T>A (p.Val1533Glu)
c.3596T>A (p.Val1199Glu)
c.1177T>A
c.1114T>A
n.3134T>A
c.4700T>A (p.Val1567Glu)
c.4652T>A (p.Val1551Glu)
c.4628T>A (p.Val1543Glu)
c.4688T>A (p.Val1563Glu)
17g.31261794T>CCA399000409NF1c.463T>C (p.Trp155Arg)
c.4643T>C (p.Val1548Ala)
n.767T>C
c.652T>C
n.1306T>C
c.4691T>C (p.Val1564Ala)
c.4661T>C (p.Val1554Ala)
c.4598T>C (p.Val1533Ala)
c.3596T>C (p.Val1199Ala)
c.1177T>C
c.1114T>C
n.3134T>C
c.4700T>C (p.Val1567Ala)
c.4652T>C (p.Val1551Ala)
c.4628T>C (p.Val1543Ala)
c.4688T>C (p.Val1563Ala)
17g.31261794T>GCA399000411NF1c.463T>G (p.Trp155Gly)
c.4643T>G (p.Val1548Gly)
n.767T>G
c.652T>G
n.1306T>G
c.4691T>G (p.Val1564Gly)
c.4661T>G (p.Val1554Gly)
c.4598T>G (p.Val1533Gly)
c.3596T>G (p.Val1199Gly)
c.1177T>G
c.1114T>G
n.3134T>G
c.4700T>G (p.Val1567Gly)
c.4652T>G (p.Val1551Gly)
c.4628T>G (p.Val1543Gly)
c.4688T>G (p.Val1563Gly)
 dbSNP
17g.31261794_31261795delinsTGCA2255577432NF1c.463_464delinsTG (p.Trp155=)
c.4643_4644delinsTG (p.Val1548=)
n.767_768delinsTG
c.652_653delinsTG
n.1306_1307delinsTG
c.4691_4692delinsTG (p.Val1564=)
c.4661_4662delinsTG (p.Val1554=)
c.4598_4599delinsTG (p.Val1533=)
c.3596_3597delinsTG (p.Val1199=)
n.3134_3135delinsTG
c.4700_4701delinsTG (p.Val1567=)
c.4652_4653delinsTG (p.Val1551=)
c.4628_4629delinsTG (p.Val1543=)
c.4688_4689delinsTG (p.Val1563=)
17g.31261795G>ACA499233892NF1c.464G>A (p.Trp155Ter)
c.4644G>A (p.Val1548=)
n.768G>A
c.653G>A
n.1307G>A
c.4692G>A (p.Val1564=)
c.4662G>A (p.Val1554=)
c.4599G>A (p.Val1533=)
c.3597G>A (p.Val1199=)
n.3135G>A
c.4701G>A (p.Val1567=)
c.4653G>A (p.Val1551=)
c.4629G>A (p.Val1543=)
c.4689G>A (p.Val1563=)
 dbSNP
17g.31261795G>CCA499233894NF1c.464G>C (p.Trp155Ser)
c.4644G>C (p.Val1548=)
n.768G>C
c.653G>C
n.1307G>C
c.4692G>C (p.Val1564=)
c.4662G>C (p.Val1554=)
c.4599G>C (p.Val1533=)
c.3597G>C (p.Val1199=)
n.3135G>C
c.4701G>C (p.Val1567=)
c.4653G>C (p.Val1551=)
c.4629G>C (p.Val1543=)
c.4689G>C (p.Val1563=)
 dbSNP
17g.31261795G>TCA499233896NF1c.464G>T (p.Trp155Leu)
c.4644G>T (p.Val1548=)
n.768G>T
c.653G>T
n.1307G>T
c.4692G>T (p.Val1564=)
c.4662G>T (p.Val1554=)
c.4599G>T (p.Val1533=)
c.3597G>T (p.Val1199=)
n.3135G>T
c.4701G>T (p.Val1567=)
c.4653G>T (p.Val1551=)
c.4629G>T (p.Val1543=)
c.4689G>T (p.Val1563=)
17g.31261796delCA645582465NF1c.465del (p.Trp155CysfsTer9)
c.4645del (p.Ala1549GlnfsTer19)
n.769del
c.654del
n.1308del
c.4693del (p.Ala1565GlnfsTer19)
c.4663del (p.Ala1555GlnfsTer19)
c.4600del (p.Ala1534GlnfsTer19)
c.3598del (p.Ala1200GlnfsTer19)
n.3136del
c.4702del (p.Ala1568GlnfsTer19)
c.4654del (p.Ala1552GlnfsTer19)
c.4630del (p.Ala1544GlnfsTer19)
c.4690del (p.Ala1564GlnfsTer19)
 ClinVar dbSNP COSMIC
17g.31261796G>ACA399000413NF1c.465G>A (p.Trp155Ter)
c.4645G>A (p.Ala1549Thr)
n.769G>A
c.654G>A
n.1308G>A
c.4693G>A (p.Ala1565Thr)
c.4663G>A (p.Ala1555Thr)
c.4600G>A (p.Ala1534Thr)
c.3598G>A (p.Ala1200Thr)
n.3136G>A
c.4702G>A (p.Ala1568Thr)
c.4654G>A (p.Ala1552Thr)
c.4630G>A (p.Ala1544Thr)
c.4690G>A (p.Ala1564Thr)
 ClinVar dbSNP COSMIC COSMIC
17g.31261796G>CCA399000414NF1c.465G>C (p.Trp155Cys)
c.4645G>C (p.Ala1549Pro)
n.769G>C
c.654G>C
n.1308G>C
c.4693G>C (p.Ala1565Pro)
c.4663G>C (p.Ala1555Pro)
c.4600G>C (p.Ala1534Pro)
c.3598G>C (p.Ala1200Pro)
n.3136G>C
c.4702G>C (p.Ala1568Pro)
c.4654G>C (p.Ala1552Pro)
c.4630G>C (p.Ala1544Pro)
c.4690G>C (p.Ala1564Pro)
 dbSNP
17g.31261796G=CA2255577433NF1c.465G= (p.Trp155=)
c.4645G= (p.Ala1549=)
n.769G=
c.654G=
n.1308G=
c.4693G= (p.Ala1565=)
c.4663G= (p.Ala1555=)
c.4600G= (p.Ala1534=)
c.3598G= (p.Ala1200=)
n.3136G=
c.4702G= (p.Ala1568=)
c.4654G= (p.Ala1552=)
c.4630G= (p.Ala1544=)
c.4690G= (p.Ala1564=)
17g.31261796G>TCA399000416NF1c.465G>T (p.Trp155Cys)
c.4645G>T (p.Ala1549Ser)
n.769G>T
c.654G>T
n.1308G>T
c.4693G>T (p.Ala1565Ser)
c.4663G>T (p.Ala1555Ser)
c.4600G>T (p.Ala1534Ser)
c.3598G>T (p.Ala1200Ser)
n.3136G>T
c.4702G>T (p.Ala1568Ser)
c.4654G>T (p.Ala1552Ser)
c.4630G>T (p.Ala1544Ser)
c.4690G>T (p.Ala1564Ser)
 dbSNP
17g.31261797C>ACA399000420NF1c.466C>A (p.Gln156Lys)
c.4646C>A (p.Ala1549Glu)
n.770C>A
c.655C>A
n.1309C>A
c.4694C>A (p.Ala1565Glu)
c.4664C>A (p.Ala1555Glu)
c.4601C>A (p.Ala1534Glu)
c.3599C>A (p.Ala1200Glu)
n.3137C>A
c.4703C>A (p.Ala1568Glu)
c.4655C>A (p.Ala1552Glu)
c.4631C>A (p.Ala1544Glu)
c.4691C>A (p.Ala1564Glu)
17g.31261797C>GCA399000422NF1c.466C>G (p.Gln156Glu)
c.4646C>G (p.Ala1549Gly)
n.770C>G
c.655C>G
n.1309C>G
c.4694C>G (p.Ala1565Gly)
c.4664C>G (p.Ala1555Gly)
c.4601C>G (p.Ala1534Gly)
c.3599C>G (p.Ala1200Gly)
n.3137C>G
c.4703C>G (p.Ala1568Gly)
c.4655C>G (p.Ala1552Gly)
c.4631C>G (p.Ala1544Gly)
c.4691C>G (p.Ala1564Gly)
 dbSNP gnomAD v4
17g.31261797C>TCA399000419NF1c.466C>T (p.Gln156Ter)
c.4646C>T (p.Ala1549Val)
n.770C>T
c.655C>T
n.1309C>T
c.4694C>T (p.Ala1565Val)
c.4664C>T (p.Ala1555Val)
c.4601C>T (p.Ala1534Val)
c.3599C>T (p.Ala1200Val)
n.3137C>T
c.4703C>T (p.Ala1568Val)
c.4655C>T (p.Ala1552Val)
c.4631C>T (p.Ala1544Val)
c.4691C>T (p.Ala1564Val)
 dbSNP
17g.31261798A=CA2255577434NF1c.467A= (p.Gln156=)
c.4647A= (p.Ala1549=)
n.771A=
c.656A=
n.1310A=
c.4695A= (p.Ala1565=)
c.4665A= (p.Ala1555=)
c.4602A= (p.Ala1534=)
c.3600A= (p.Ala1200=)
n.3138A=
c.4704A= (p.Ala1568=)
c.4656A= (p.Ala1552=)
c.4632A= (p.Ala1544=)
c.4692A= (p.Ala1564=)
17g.31261798A>CCA188934NF1c.467A>C (p.Gln156Pro)
c.4647A>C (p.Ala1549=)
n.771A>C
c.656A>C
n.1310A>C
c.4695A>C (p.Ala1565=)
c.4665A>C (p.Ala1555=)
c.4602A>C (p.Ala1534=)
c.3600A>C (p.Ala1200=)
n.3138A>C
c.4704A>C (p.Ala1568=)
c.4656A>C (p.Ala1552=)
c.4632A>C (p.Ala1544=)
c.4692A>C (p.Ala1564=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31261798A>GCA499233900NF1c.467A>G (p.Gln156Arg)
c.4647A>G (p.Ala1549=)
n.771A>G
c.656A>G
n.1310A>G
c.4695A>G (p.Ala1565=)
c.4665A>G (p.Ala1555=)
c.4602A>G (p.Ala1534=)
c.3600A>G (p.Ala1200=)
n.3138A>G
c.4704A>G (p.Ala1568=)
c.4656A>G (p.Ala1552=)
c.4632A>G (p.Ala1544=)
c.4692A>G (p.Ala1564=)
 ClinVar
17g.31261798A>TCA499233898NF1c.467A>T (p.Gln156Leu)
c.4647A>T (p.Ala1549=)
n.771A>T
c.656A>T
n.1310A>T
c.4695A>T (p.Ala1565=)
c.4665A>T (p.Ala1555=)
c.4602A>T (p.Ala1534=)
c.3600A>T (p.Ala1200=)
n.3138A>T
c.4704A>T (p.Ala1568=)
c.4656A>T (p.Ala1552=)
c.4632A>T (p.Ala1544=)
c.4692A>T (p.Ala1564=)
17g.31261799G>ACA399000425NF1c.468G>A (p.Gln156=)
c.4648G>A (p.Asp1550Asn)
n.772G>A
c.657G>A
n.1311G>A
c.4696G>A (p.Asp1566Asn)
c.4666G>A (p.Asp1556Asn)
c.4603G>A (p.Asp1535Asn)
c.3601G>A (p.Asp1201Asn)
n.3139G>A
c.4705G>A (p.Asp1569Asn)
c.4657G>A (p.Asp1553Asn)
c.4633G>A (p.Asp1545Asn)
c.4693G>A (p.Asp1565Asn)
 dbSNP
17g.31261799G>CCA399000427NF1c.468G>C (p.Gln156His)
c.4648G>C (p.Asp1550His)
n.772G>C
c.657G>C
n.1311G>C
c.4696G>C (p.Asp1566His)
c.4666G>C (p.Asp1556His)
c.4603G>C (p.Asp1535His)
c.3601G>C (p.Asp1201His)
n.3139G>C
c.4705G>C (p.Asp1569His)
c.4657G>C (p.Asp1553His)
c.4633G>C (p.Asp1545His)
c.4693G>C (p.Asp1565His)
 ClinVar dbSNP
17g.31261799G>TCA399000429NF1c.468G>T (p.Gln156His)
c.4648G>T (p.Asp1550Tyr)
n.772G>T
c.657G>T
n.1311G>T
c.4696G>T (p.Asp1566Tyr)
c.4666G>T (p.Asp1556Tyr)
c.4603G>T (p.Asp1535Tyr)
c.3601G>T (p.Asp1201Tyr)
n.3139G>T
c.4705G>T (p.Asp1569Tyr)
c.4657G>T (p.Asp1553Tyr)
c.4633G>T (p.Asp1545Tyr)
c.4693G>T (p.Asp1565Tyr)
17g.31261800A>CCA399000434NF1c.469A>C (p.Ile157Leu)
c.4649A>C (p.Asp1550Ala)
n.773A>C
c.658A>C
n.1312A>C
c.4697A>C (p.Asp1566Ala)
c.4667A>C (p.Asp1556Ala)
c.4604A>C (p.Asp1535Ala)
c.3602A>C (p.Asp1201Ala)
n.3140A>C
c.4706A>C (p.Asp1569Ala)
c.4658A>C (p.Asp1553Ala)
c.4634A>C (p.Asp1545Ala)
c.4694A>C (p.Asp1565Ala)
17g.31261800A>GCA399000433NF1c.469A>G (p.Ile157Val)
c.4649A>G (p.Asp1550Gly)
n.773A>G
c.658A>G
n.1312A>G
c.4697A>G (p.Asp1566Gly)
c.4667A>G (p.Asp1556Gly)
c.4604A>G (p.Asp1535Gly)
c.3602A>G (p.Asp1201Gly)
n.3140A>G
c.4706A>G (p.Asp1569Gly)
c.4658A>G (p.Asp1553Gly)
c.4634A>G (p.Asp1545Gly)
c.4694A>G (p.Asp1565Gly)
17g.31261800A>TCA399000431NF1c.469A>T (p.Ile157Leu)
c.4649A>T (p.Asp1550Val)
n.773A>T
c.658A>T
n.1312A>T
c.4697A>T (p.Asp1566Val)
c.4667A>T (p.Asp1556Val)
c.4604A>T (p.Asp1535Val)
c.3602A>T (p.Asp1201Val)
n.3140A>T
c.4706A>T (p.Asp1569Val)
c.4658A>T (p.Asp1553Val)
c.4634A>T (p.Asp1545Val)
c.4694A>T (p.Asp1565Val)
 ClinVar
17g.31261801T>ACA399000440NF1c.470T>A (p.Ile157Lys)
c.4650T>A (p.Asp1550Glu)
n.774T>A
c.659T>A
n.1313T>A
c.4698T>A (p.Asp1566Glu)
c.4668T>A (p.Asp1556Glu)
c.4605T>A (p.Asp1535Glu)
c.3603T>A (p.Asp1201Glu)
n.3141T>A
c.4707T>A (p.Asp1569Glu)
c.4659T>A (p.Asp1553Glu)
c.4635T>A (p.Asp1545Glu)
c.4695T>A (p.Asp1565Glu)
17g.31261801T>CCA8486453NF1c.470T>C (p.Ile157Thr)
c.4650T>C (p.Asp1550=)
n.774T>C
c.659T>C
n.1313T>C
c.4698T>C (p.Asp1566=)
c.4668T>C (p.Asp1556=)
c.4605T>C (p.Asp1535=)
c.3603T>C (p.Asp1201=)
n.3141T>C
c.4707T>C (p.Asp1569=)
c.4659T>C (p.Asp1553=)
c.4635T>C (p.Asp1545=)
c.4695T>C (p.Asp1565=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31261801T>GCA399000443NF1c.470T>G (p.Ile157Arg)
c.4650T>G (p.Asp1550Glu)
n.774T>G
c.659T>G
n.1313T>G
c.4698T>G (p.Asp1566Glu)
c.4668T>G (p.Asp1556Glu)
c.4605T>G (p.Asp1535Glu)
c.3603T>G (p.Asp1201Glu)
n.3141T>G
c.4707T>G (p.Asp1569Glu)
c.4659T>G (p.Asp1553Glu)
c.4635T>G (p.Asp1545Glu)
c.4695T>G (p.Asp1565Glu)
17g.31261801T=CA2255577435NF1c.470T= (p.Ile157=)
c.4650T= (p.Asp1550=)
n.774T=
c.659T=
n.1313T=
c.4698T= (p.Asp1566=)
c.4668T= (p.Asp1556=)
c.4605T= (p.Asp1535=)
c.3603T= (p.Asp1201=)
n.3141T=
c.4707T= (p.Asp1569=)
c.4659T= (p.Asp1553=)
c.4635T= (p.Asp1545=)
c.4695T= (p.Asp1565=)
17g.31261801_31261802delinsTACA2255577436NF1c.470_471delinsTA (p.Ile157=)
c.4650_4651delinsTA (p.Asp1550=)
n.774_775delinsTA
c.659_660delinsTA
n.1313_1314delinsTA
c.4698_4699delinsTA (p.Asp1566=)
c.4668_4669delinsTA (p.Asp1556=)
c.4605_4606delinsTA (p.Asp1535=)
c.3603_3604delinsTA (p.Asp1201=)
n.3141_3142delinsTA
c.4707_4708delinsTA (p.Asp1569=)
c.4659_4660delinsTA (p.Asp1553=)
c.4635_4636delinsTA (p.Asp1545=)
c.4695_4696delinsTA (p.Asp1565=)
17g.31261802delCA915949667NF1c.471del (p.His158ThrfsTer6)
c.4651del (p.Thr1551HisfsTer17)
n.775del
c.660del
n.1314del
c.4699del (p.Thr1567HisfsTer17)
c.4669del (p.Thr1557HisfsTer17)
c.4606del (p.Thr1536HisfsTer17)
c.3604del (p.Thr1202HisfsTer17)
n.3142del
c.4708del (p.Thr1570HisfsTer17)
c.4660del (p.Thr1554HisfsTer17)
c.4636del (p.Thr1546HisfsTer17)
c.4696del (p.Thr1566HisfsTer17)
 ClinVar dbSNP
17g.31261802A>CCA399000445NF1c.471A>C (p.Ile157=)
c.4651A>C (p.Thr1551Pro)
n.775A>C
c.660A>C
n.1314A>C
c.4699A>C (p.Thr1567Pro)
c.4669A>C (p.Thr1557Pro)
c.4606A>C (p.Thr1536Pro)
c.3604A>C (p.Thr1202Pro)
n.3142A>C
c.4708A>C (p.Thr1570Pro)
c.4660A>C (p.Thr1554Pro)
c.4636A>C (p.Thr1546Pro)
c.4696A>C (p.Thr1566Pro)
17g.31261802A>GCA399000446NF1c.471A>G (p.Ile157Met)
c.4651A>G (p.Thr1551Ala)
n.775A>G
c.660A>G
n.1314A>G
c.4699A>G (p.Thr1567Ala)
c.4669A>G (p.Thr1557Ala)
c.4606A>G (p.Thr1536Ala)
c.3604A>G (p.Thr1202Ala)
n.3142A>G
c.4708A>G (p.Thr1570Ala)
c.4660A>G (p.Thr1554Ala)
c.4636A>G (p.Thr1546Ala)
c.4696A>G (p.Thr1566Ala)
 gnomAD v4 COSMIC COSMIC
17g.31261802A>TCA399000448NF1c.471A>T (p.Ile157=)
c.4651A>T (p.Thr1551Ser)
n.775A>T
c.660A>T
n.1314A>T
c.4699A>T (p.Thr1567Ser)
c.4669A>T (p.Thr1557Ser)
c.4606A>T (p.Thr1536Ser)
c.3604A>T (p.Thr1202Ser)
n.3142A>T
c.4708A>T (p.Thr1570Ser)
c.4660A>T (p.Thr1554Ser)
c.4636A>T (p.Thr1546Ser)
c.4696A>T (p.Thr1566Ser)
 dbSNP
17g.31261802dupCA658798807NF1c.471dup (p.His158ThrfsTer?)
c.4651dup (p.Thr1551AsnfsTer7)
n.775dup
c.660dup
n.1314dup
c.4699dup (p.Thr1567AsnfsTer7)
c.4669dup (p.Thr1557AsnfsTer7)
c.4606dup (p.Thr1536AsnfsTer7)
c.3604dup (p.Thr1202AsnfsTer7)
n.3142dup
c.4708dup (p.Thr1570AsnfsTer7)
c.4660dup (p.Thr1554AsnfsTer7)
c.4636dup (p.Thr1546AsnfsTer7)
c.4696dup (p.Thr1566AsnfsTer7)
 ClinVar dbSNP gnomAD v4
17g.31261806_31261807dupCA2255577437NF1c.475_476dup (p.Gly160LeufsTer5)
c.4655_4656dup (p.Trp1553ThrfsTer16)
n.779_780dup
c.664_665dup
n.1318_1319dup
c.4703_4704dup (p.Trp1569ThrfsTer16)
c.4673_4674dup (p.Trp1559ThrfsTer16)
c.4610_4611dup (p.Trp1538ThrfsTer16)
c.3608_3609dup (p.Trp1204ThrfsTer16)
n.3146_3147dup
c.4712_4713dup (p.Trp1572ThrfsTer16)
c.4664_4665dup (p.Trp1556ThrfsTer16)
c.4640_4641dup (p.Trp1548ThrfsTer16)
c.4700_4701dup (p.Trp1568ThrfsTer16)
 ClinVar dbSNP
17g.31261806_31261807delCA2695225406NF1c.475_476del (p.Thr159TrpfsTer?)
c.4655_4656del (p.His1552LeufsTer5)
n.779_780del
c.664_665del
n.1318_1319del
c.4703_4704del (p.His1568LeufsTer5)
c.4673_4674del (p.His1558LeufsTer5)
c.4610_4611del (p.His1537LeufsTer5)
c.3608_3609del (p.His1203LeufsTer5)
n.3146_3147del
c.4712_4713del (p.His1571LeufsTer5)
c.4664_4665del (p.His1555LeufsTer5)
c.4640_4641del (p.His1547LeufsTer5)
c.4700_4701del (p.His1567LeufsTer5)
17g.31261803C>ACA399000453NF1c.472C>A (p.His158Asn)
c.4652C>A (p.Thr1551Lys)
n.776C>A
c.661C>A
n.1315C>A
c.4700C>A (p.Thr1567Lys)
c.4670C>A (p.Thr1557Lys)
c.4607C>A (p.Thr1536Lys)
c.3605C>A (p.Thr1202Lys)
n.3143C>A
c.4709C>A (p.Thr1570Lys)
c.4661C>A (p.Thr1554Lys)
c.4637C>A (p.Thr1546Lys)
c.4697C>A (p.Thr1566Lys)
 ClinVar dbSNP
17g.31261803C=CA2255577438NF1c.472C= (p.His158=)
c.4652C= (p.Thr1551=)
n.776C=
c.661C=
n.1315C=
c.4700C= (p.Thr1567=)
c.4670C= (p.Thr1557=)
c.4607C= (p.Thr1536=)
c.3605C= (p.Thr1202=)
n.3143C=
c.4709C= (p.Thr1570=)
c.4661C= (p.Thr1554=)
c.4637C= (p.Thr1546=)
c.4697C= (p.Thr1566=)
17g.31261803C>GCA10580324NF1c.472C>G (p.His158Asp)
c.4652C>G (p.Thr1551Arg)
n.776C>G
c.661C>G
n.1315C>G
c.4700C>G (p.Thr1567Arg)
c.4670C>G (p.Thr1557Arg)
c.4607C>G (p.Thr1536Arg)
c.3605C>G (p.Thr1202Arg)
n.3143C>G
c.4709C>G (p.Thr1570Arg)
c.4661C>G (p.Thr1554Arg)
c.4637C>G (p.Thr1546Arg)
c.4697C>G (p.Thr1566Arg)
 ClinVar dbSNP gnomAD v4
17g.31261803C>TCA399000450NF1c.472C>T (p.His158Tyr)
c.4652C>T (p.Thr1551Ile)
n.776C>T
c.661C>T
n.1315C>T
c.4700C>T (p.Thr1567Ile)
c.4670C>T (p.Thr1557Ile)
c.4607C>T (p.Thr1536Ile)
c.3605C>T (p.Thr1202Ile)
n.3143C>T
c.4709C>T (p.Thr1570Ile)
c.4661C>T (p.Thr1554Ile)
c.4637C>T (p.Thr1546Ile)
c.4697C>T (p.Thr1566Ile)
 ClinVar dbSNP gnomAD v4
17g.31261804A=CA2255577439NF1c.473A= (p.His158=)
c.4653A= (p.Thr1551=)
n.777A=
c.662A=
n.1316A=
c.4701A= (p.Thr1567=)
c.4671A= (p.Thr1557=)
c.4608A= (p.Thr1536=)
c.3606A= (p.Thr1202=)
n.3144A=
c.4710A= (p.Thr1570=)
c.4662A= (p.Thr1554=)
c.4638A= (p.Thr1546=)
c.4698A= (p.Thr1566=)
17g.31261804A>CCA10580325NF1c.473A>C (p.His158Pro)
c.4653A>C (p.Thr1551=)
n.777A>C
c.662A>C
n.1316A>C
c.4701A>C (p.Thr1567=)
c.4671A>C (p.Thr1557=)
c.4608A>C (p.Thr1536=)
c.3606A>C (p.Thr1202=)
n.3144A>C
c.4710A>C (p.Thr1570=)
c.4662A>C (p.Thr1554=)
c.4638A>C (p.Thr1546=)
c.4698A>C (p.Thr1566=)
 ClinVar dbSNP
17g.31261804A>GCA499233903NF1c.473A>G (p.His158Arg)
c.4653A>G (p.Thr1551=)
n.777A>G
c.662A>G
n.1316A>G
c.4701A>G (p.Thr1567=)
c.4671A>G (p.Thr1557=)
c.4608A>G (p.Thr1536=)
c.3606A>G (p.Thr1202=)
n.3144A>G
c.4710A>G (p.Thr1570=)
c.4662A>G (p.Thr1554=)
c.4638A>G (p.Thr1546=)
c.4698A>G (p.Thr1566=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31261804A>TCA499233904NF1c.473A>T (p.His158Leu)
c.4653A>T (p.Thr1551=)
n.777A>T
c.662A>T
n.1316A>T
c.4701A>T (p.Thr1567=)
c.4671A>T (p.Thr1557=)
c.4608A>T (p.Thr1536=)
c.3606A>T (p.Thr1202=)
n.3144A>T
c.4710A>T (p.Thr1570=)
c.4662A>T (p.Thr1554=)
c.4638A>T (p.Thr1546=)
c.4698A>T (p.Thr1566=)
 ClinVar dbSNP gnomAD v4
17g.31261805C>ACA399000459NF1c.474C>A (p.His158Gln)
c.4654C>A (p.His1552Asn)
n.778C>A
c.663C>A
n.1317C>A
c.4702C>A (p.His1568Asn)
c.4672C>A (p.His1558Asn)
c.4609C>A (p.His1537Asn)
c.3607C>A (p.His1203Asn)
n.3145C>A
c.4711C>A (p.His1571Asn)
c.4663C>A (p.His1555Asn)
c.4639C>A (p.His1547Asn)
c.4699C>A (p.His1567Asn)
 dbSNP
17g.31261805C=CA2255577440NF1c.474C= (p.His158=)
c.4654C= (p.His1552=)
n.778C=
c.663C=
n.1317C=
c.4702C= (p.His1568=)
c.4672C= (p.His1558=)
c.4609C= (p.His1537=)
c.3607C= (p.His1203=)
n.3145C=
c.4711C= (p.His1571=)
c.4663C= (p.His1555=)
c.4639C= (p.His1547=)
c.4699C= (p.His1567=)
17g.31261805C>GCA399000456NF1c.474C>G (p.His158Gln)
c.4654C>G (p.His1552Asp)
n.778C>G
c.663C>G
n.1317C>G
c.4702C>G (p.His1568Asp)
c.4672C>G (p.His1558Asp)
c.4609C>G (p.His1537Asp)
c.3607C>G (p.His1203Asp)
n.3145C>G
c.4711C>G (p.His1571Asp)
c.4663C>G (p.His1555Asp)
c.4639C>G (p.His1547Asp)
c.4699C>G (p.His1567Asp)
 dbSNP
17g.31261805C>TCA399000458NF1c.474C>T (p.His158=)
c.4654C>T (p.His1552Tyr)
n.778C>T
c.663C>T
n.1317C>T
c.4702C>T (p.His1568Tyr)
c.4672C>T (p.His1558Tyr)
c.4609C>T (p.His1537Tyr)
c.3607C>T (p.His1203Tyr)
n.3145C>T
c.4711C>T (p.His1571Tyr)
c.4663C>T (p.His1555Tyr)
c.4639C>T (p.His1547Tyr)
c.4699C>T (p.His1567Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31261806A=CA2255577441NF1c.475A= (p.Thr159=)
c.4655A= (p.His1552=)
n.779A=
c.664A=
n.1318A=
c.4703A= (p.His1568=)
c.4673A= (p.His1558=)
c.4610A= (p.His1537=)
c.3608A= (p.His1203=)
n.3146A=
c.4712A= (p.His1571=)
c.4664A= (p.His1555=)
c.4640A= (p.His1547=)
c.4700A= (p.His1567=)
17g.31261806A>CCA399000461NF1c.475A>C (p.Thr159Pro)
c.4655A>C (p.His1552Pro)
n.779A>C
c.664A>C
n.1318A>C
c.4703A>C (p.His1568Pro)
c.4673A>C (p.His1558Pro)
c.4610A>C (p.His1537Pro)
c.3608A>C (p.His1203Pro)
n.3146A>C
c.4712A>C (p.His1571Pro)
c.4664A>C (p.His1555Pro)
c.4640A>C (p.His1547Pro)
c.4700A>C (p.His1567Pro)
17g.31261806A>GCA399000462NF1c.475A>G (p.Thr159Ala)
c.4655A>G (p.His1552Arg)
n.779A>G
c.664A>G
n.1318A>G
c.4703A>G (p.His1568Arg)
c.4673A>G (p.His1558Arg)
c.4610A>G (p.His1537Arg)
c.3608A>G (p.His1203Arg)
n.3146A>G
c.4712A>G (p.His1571Arg)
c.4664A>G (p.His1555Arg)
c.4640A>G (p.His1547Arg)
c.4700A>G (p.His1567Arg)
 ClinVar dbSNP gnomAD v4
17g.31261806A>TCA399000464NF1c.475A>T (p.Thr159Ser)
c.4655A>T (p.His1552Leu)
n.779A>T
c.664A>T
n.1318A>T
c.4703A>T (p.His1568Leu)
c.4673A>T (p.His1558Leu)
c.4610A>T (p.His1537Leu)
c.3608A>T (p.His1203Leu)
n.3146A>T
c.4712A>T (p.His1571Leu)
c.4664A>T (p.His1555Leu)
c.4640A>T (p.His1547Leu)
c.4700A>T (p.His1567Leu)
 dbSNP
17g.31261807C>ACA399000465NF1c.476C>A (p.Thr159Asn)
c.4656C>A (p.His1552Gln)
n.780C>A
c.665C>A
n.1319C>A
c.4704C>A (p.His1568Gln)
c.4674C>A (p.His1558Gln)
c.4611C>A (p.His1537Gln)
c.3609C>A (p.His1203Gln)
n.3147C>A
c.4713C>A (p.His1571Gln)
c.4665C>A (p.His1555Gln)
c.4641C>A (p.His1547Gln)
c.4701C>A (p.His1567Gln)
 dbSNP
17g.31261807C>GCA399000467NF1c.476C>G (p.Thr159Ser)
c.4656C>G (p.His1552Gln)
n.780C>G
c.665C>G
n.1319C>G
c.4704C>G (p.His1568Gln)
c.4674C>G (p.His1558Gln)
c.4611C>G (p.His1537Gln)
c.3609C>G (p.His1203Gln)
n.3147C>G
c.4713C>G (p.His1571Gln)
c.4665C>G (p.His1555Gln)
c.4641C>G (p.His1547Gln)
c.4701C>G (p.His1567Gln)
 dbSNP
17g.31261807C>TCA499233906NF1c.476C>T (p.Thr159Ile)
c.4656C>T (p.His1552=)
n.780C>T
c.665C>T
n.1319C>T
c.4704C>T (p.His1568=)
c.4674C>T (p.His1558=)
c.4611C>T (p.His1537=)
c.3609C>T (p.His1203=)
n.3147C>T
c.4713C>T (p.His1571=)
c.4665C>T (p.His1555=)
c.4641C>T (p.His1547=)
c.4701C>T (p.His1567=)
 ClinVar
17g.31261808T>ACA399000469NF1c.477T>A (p.Thr159=)
c.4657T>A (p.Trp1553Arg)
n.781T>A
c.666T>A
n.1320T>A
c.4705T>A (p.Trp1569Arg)
c.4675T>A (p.Trp1559Arg)
c.4612T>A (p.Trp1538Arg)
c.3610T>A (p.Trp1204Arg)
n.3148T>A
c.4714T>A (p.Trp1572Arg)
c.4666T>A (p.Trp1556Arg)
c.4642T>A (p.Trp1548Arg)
c.4702T>A (p.Trp1568Arg)
17g.31261808T>CCA399000471NF1c.477T>C (p.Thr159=)
c.4657T>C (p.Trp1553Arg)
n.781T>C
c.666T>C
n.1320T>C
c.4705T>C (p.Trp1569Arg)
c.4675T>C (p.Trp1559Arg)
c.4612T>C (p.Trp1538Arg)
c.3610T>C (p.Trp1204Arg)
n.3148T>C
c.4714T>C (p.Trp1572Arg)
c.4666T>C (p.Trp1556Arg)
c.4642T>C (p.Trp1548Arg)
c.4702T>C (p.Trp1568Arg)
 dbSNP gnomAD v2
17g.31261808T>GCA399000472NF1c.477T>G (p.Thr159=)
c.4657T>G (p.Trp1553Gly)
n.781T>G
c.666T>G
n.1320T>G
c.4705T>G (p.Trp1569Gly)
c.4675T>G (p.Trp1559Gly)
c.4612T>G (p.Trp1538Gly)
c.3610T>G (p.Trp1204Gly)
n.3148T>G
c.4714T>G (p.Trp1572Gly)
c.4666T>G (p.Trp1556Gly)
c.4642T>G (p.Trp1548Gly)
c.4702T>G (p.Trp1568Gly)
17g.31261808T=CA2255577442NF1c.477T= (p.Thr159=)
c.4657T= (p.Trp1553=)
n.781T=
c.666T=
n.1320T=
c.4705T= (p.Trp1569=)
c.4675T= (p.Trp1559=)
c.4612T= (p.Trp1538=)
c.3610T= (p.Trp1204=)
n.3148T=
c.4714T= (p.Trp1572=)
c.4666T= (p.Trp1556=)
c.4642T= (p.Trp1548=)
c.4702T= (p.Trp1568=)
17g.31261808_31261809delCA2695225407NF1c.477_478del (p.Gly160SerfsTer?)
c.4657_4658del (p.Trp1553ValfsTer4)
n.781_782del
c.666_667del
n.1320_1321del
c.4705_4706del (p.Trp1569ValfsTer4)
c.4675_4676del (p.Trp1559ValfsTer4)
c.4612_4613del (p.Trp1538ValfsTer4)
c.3610_3611del (p.Trp1204ValfsTer4)
n.3148_3149del
c.4714_4715del (p.Trp1572ValfsTer4)
c.4666_4667del (p.Trp1556ValfsTer4)
c.4642_4643del (p.Trp1548ValfsTer4)
c.4702_4703del (p.Trp1568ValfsTer4)
17g.31261809G>ACA399000473NF1c.478G>A (p.Gly160Ser)
c.4658G>A (p.Trp1553Ter)
n.782G>A
c.667G>A
n.1321G>A
c.4706G>A (p.Trp1569Ter)
c.4676G>A (p.Trp1559Ter)
c.4613G>A (p.Trp1538Ter)
c.3611G>A (p.Trp1204Ter)
n.3149G>A
c.4715G>A (p.Trp1572Ter)
c.4667G>A (p.Trp1556Ter)
c.4643G>A (p.Trp1548Ter)
c.4703G>A (p.Trp1568Ter)
 ClinVar dbSNP
17g.31261809G>CCA399000475NF1c.478G>C (p.Gly160Arg)
c.4658G>C (p.Trp1553Ser)
n.782G>C
c.667G>C
n.1321G>C
c.4706G>C (p.Trp1569Ser)
c.4676G>C (p.Trp1559Ser)
c.4613G>C (p.Trp1538Ser)
c.3611G>C (p.Trp1204Ser)
n.3149G>C
c.4715G>C (p.Trp1572Ser)
c.4667G>C (p.Trp1556Ser)
c.4643G>C (p.Trp1548Ser)
c.4703G>C (p.Trp1568Ser)
 dbSNP
17g.31261809G=CA2255577443NF1c.478G= (p.Gly160=)
c.4658G= (p.Trp1553=)
n.782G=
c.667G=
n.1321G=
c.4706G= (p.Trp1569=)
c.4676G= (p.Trp1559=)
c.4613G= (p.Trp1538=)
c.3611G= (p.Trp1204=)
n.3149G=
c.4715G= (p.Trp1572=)
c.4667G= (p.Trp1556=)
c.4643G= (p.Trp1548=)
c.4703G= (p.Trp1568=)
17g.31261809G>TCA399000477NF1c.478G>T (p.Gly160Cys)
c.4658G>T (p.Trp1553Leu)
n.782G>T
c.667G>T
n.1321G>T
c.4706G>T (p.Trp1569Leu)
c.4676G>T (p.Trp1559Leu)
c.4613G>T (p.Trp1538Leu)
c.3611G>T (p.Trp1204Leu)
n.3149G>T
c.4715G>T (p.Trp1572Leu)
c.4667G>T (p.Trp1556Leu)
c.4643G>T (p.Trp1548Leu)
c.4703G>T (p.Trp1568Leu)
17g.31261810delCA2695225408NF1c.479del (p.Gly160ValfsTer4)
c.4659del (p.Trp1553CysfsTer15)
n.783del
c.668del
n.1322del
c.4707del (p.Trp1569CysfsTer15)
c.4677del (p.Trp1559CysfsTer15)
c.4614del (p.Trp1538CysfsTer15)
c.3612del (p.Trp1204CysfsTer15)
n.3150del
c.4716del (p.Trp1572CysfsTer15)
c.4668del (p.Trp1556CysfsTer15)
c.4644del (p.Trp1548CysfsTer15)
c.4704del (p.Trp1568CysfsTer15)
17g.31261810G>ACA114180NF1c.479G>A (p.Gly160Asp)
c.4659G>A (p.Trp1553Ter)
n.783G>A
c.668G>A
n.1322G>A
c.4707G>A (p.Trp1569Ter)
c.4677G>A (p.Trp1559Ter)
c.4614G>A (p.Trp1538Ter)
c.3612G>A (p.Trp1204Ter)
n.3150G>A
c.4716G>A (p.Trp1572Ter)
c.4668G>A (p.Trp1556Ter)
c.4644G>A (p.Trp1548Ter)
c.4704G>A (p.Trp1568Ter)
 ClinVar dbSNP gnomAD v4
17g.31261810G>CCA399000481NF1c.479G>C (p.Gly160Ala)
c.4659G>C (p.Trp1553Cys)
n.783G>C
c.668G>C
n.1322G>C
c.4707G>C (p.Trp1569Cys)
c.4677G>C (p.Trp1559Cys)
c.4614G>C (p.Trp1538Cys)
c.3612G>C (p.Trp1204Cys)
n.3150G>C
c.4716G>C (p.Trp1572Cys)
c.4668G>C (p.Trp1556Cys)
c.4644G>C (p.Trp1548Cys)
c.4704G>C (p.Trp1568Cys)
 dbSNP
17g.31261810G=CA2255577444NF1c.479G= (p.Gly160=)
c.4659G= (p.Trp1553=)
n.783G=
c.668G=
n.1322G=
c.4707G= (p.Trp1569=)
c.4677G= (p.Trp1559=)
c.4614G= (p.Trp1538=)
c.3612G= (p.Trp1204=)
n.3150G=
c.4716G= (p.Trp1572=)
c.4668G= (p.Trp1556=)
c.4644G= (p.Trp1548=)
c.4704G= (p.Trp1568=)
17g.31261810G>TCA399000479NF1c.479G>T (p.Gly160Val)
c.4659G>T (p.Trp1553Cys)
n.783G>T
c.668G>T
n.1322G>T
c.4707G>T (p.Trp1569Cys)
c.4677G>T (p.Trp1559Cys)
c.4614G>T (p.Trp1538Cys)
c.3612G>T (p.Trp1204Cys)
n.3150G>T
c.4716G>T (p.Trp1572Cys)
c.4668G>T (p.Trp1556Cys)
c.4644G>T (p.Trp1548Cys)
c.4704G>T (p.Trp1568Cys)
17g.31261810_31261811delCA2695225409NF1c.479_480del (p.Gly160AlafsTer?)
c.4659_4660del (p.Trp1553CysfsTer4)
n.783_784del
c.668_669del
n.1322_1323del
c.4707_4708del (p.Trp1569CysfsTer4)
c.4677_4678del (p.Trp1559CysfsTer4)
c.4614_4615del (p.Trp1538CysfsTer4)
c.3612_3613del (p.Trp1204CysfsTer4)
n.3150_3151del
c.4716_4717del (p.Trp1572CysfsTer4)
c.4668_4669del (p.Trp1556CysfsTer4)
c.4644_4645del (p.Trp1548CysfsTer4)
c.4704_4705del (p.Trp1568CysfsTer4)
17g.31261811T>ACA399000483NF1c.480T>A (p.Gly160=)
c.4660T>A (p.Ser1554Thr)
n.784T>A
c.669T>A
n.1323T>A
c.4708T>A (p.Ser1570Thr)
c.4678T>A (p.Ser1560Thr)
c.4615T>A (p.Ser1539Thr)
c.3613T>A (p.Ser1205Thr)
n.3151T>A
c.4717T>A (p.Ser1573Thr)
c.4669T>A (p.Ser1557Thr)
c.4645T>A (p.Ser1549Thr)
c.4705T>A (p.Ser1569Thr)
17g.31261811T>CCA399000485NF1c.480T>C (p.Gly160=)
c.4660T>C (p.Ser1554Pro)
n.784T>C
c.669T>C
n.1323T>C
c.4708T>C (p.Ser1570Pro)
c.4678T>C (p.Ser1560Pro)
c.4615T>C (p.Ser1539Pro)
c.3613T>C (p.Ser1205Pro)
n.3151T>C
c.4717T>C (p.Ser1573Pro)
c.4669T>C (p.Ser1557Pro)
c.4645T>C (p.Ser1549Pro)
c.4705T>C (p.Ser1569Pro)
17g.31261811T>GCA399000487NF1c.480T>G (p.Gly160=)
c.4660T>G (p.Ser1554Ala)
n.784T>G
c.669T>G
n.1323T>G
c.4708T>G (p.Ser1570Ala)
c.4678T>G (p.Ser1560Ala)
c.4615T>G (p.Ser1539Ala)
c.3613T>G (p.Ser1205Ala)
n.3151T>G
c.4717T>G (p.Ser1573Ala)
c.4669T>G (p.Ser1557Ala)
c.4645T>G (p.Ser1549Ala)
c.4705T>G (p.Ser1569Ala)
17g.31261812C>ACA399000489NF1c.481C>A (p.Pro161Thr)
c.4661C>A (p.Ser1554Tyr)
n.785C>A
c.670C>A
n.1324C>A
c.4709C>A (p.Ser1570Tyr)
c.4679C>A (p.Ser1560Tyr)
c.4616C>A (p.Ser1539Tyr)
c.3614C>A (p.Ser1205Tyr)
n.3152C>A
c.4718C>A (p.Ser1573Tyr)
c.4670C>A (p.Ser1557Tyr)
c.4646C>A (p.Ser1549Tyr)
c.4706C>A (p.Ser1569Tyr)
 dbSNP gnomAD v4
17g.31261812C>GCA399000491NF1c.481C>G (p.Pro161Ala)
c.4661C>G (p.Ser1554Cys)
n.785C>G
c.670C>G
n.1324C>G
c.4709C>G (p.Ser1570Cys)
c.4679C>G (p.Ser1560Cys)
c.4616C>G (p.Ser1539Cys)
c.3614C>G (p.Ser1205Cys)
n.3152C>G
c.4718C>G (p.Ser1573Cys)
c.4670C>G (p.Ser1557Cys)
c.4646C>G (p.Ser1549Cys)
c.4706C>G (p.Ser1569Cys)
 dbSNP
17g.31261812C>TCA399000493NF1c.481C>T (p.Pro161Ser)
c.4661C>T (p.Ser1554Phe)
n.785C>T
c.670C>T
n.1324C>T
c.4709C>T (p.Ser1570Phe)
c.4679C>T (p.Ser1560Phe)
c.4616C>T (p.Ser1539Phe)
c.3614C>T (p.Ser1205Phe)
n.3152C>T
c.4718C>T (p.Ser1573Phe)
c.4670C>T (p.Ser1557Phe)
c.4646C>T (p.Ser1549Phe)
c.4706C>T (p.Ser1569Phe)
 dbSNP
17g.31261813C>ACA499233912NF1c.482C>A (p.Pro161Gln)
c.4662C>A (p.Ser1554=)
n.786C>A
c.671C>A
n.1325C>A
c.4710C>A (p.Ser1570=)
c.4680C>A (p.Ser1560=)
c.4617C>A (p.Ser1539=)
c.3615C>A (p.Ser1205=)
n.3153C>A
c.4719C>A (p.Ser1573=)
c.4671C>A (p.Ser1557=)
c.4647C>A (p.Ser1549=)
c.4707C>A (p.Ser1569=)
 dbSNP
17g.31261813C=CA2255577445NF1c.482C= (p.Pro161=)
c.4662C= (p.Ser1554=)
n.786C=
c.671C=
n.1325C=
c.4710C= (p.Ser1570=)
c.4680C= (p.Ser1560=)
c.4617C= (p.Ser1539=)
c.3615C= (p.Ser1205=)
n.3153C=
c.4719C= (p.Ser1573=)
c.4671C= (p.Ser1557=)
c.4647C= (p.Ser1549=)
c.4707C= (p.Ser1569=)
17g.31261813C>GCA499233913NF1c.482C>G (p.Pro161Arg)
c.4662C>G (p.Ser1554=)
n.786C>G
c.671C>G
n.1325C>G
c.4710C>G (p.Ser1570=)
c.4680C>G (p.Ser1560=)
c.4617C>G (p.Ser1539=)
c.3615C>G (p.Ser1205=)
n.3153C>G
c.4719C>G (p.Ser1573=)
c.4671C>G (p.Ser1557=)
c.4647C>G (p.Ser1549=)
c.4707C>G (p.Ser1569=)
 ClinVar dbSNP
17g.31261813C>TCA499233914NF1c.482C>T (p.Pro161Leu)
c.4662C>T (p.Ser1554=)
n.786C>T
c.671C>T
n.1325C>T
c.4710C>T (p.Ser1570=)
c.4680C>T (p.Ser1560=)
c.4617C>T (p.Ser1539=)
c.3615C>T (p.Ser1205=)
n.3153C>T
c.4719C>T (p.Ser1573=)
c.4671C>T (p.Ser1557=)
c.4647C>T (p.Ser1549=)
c.4707C>T (p.Ser1569=)
 ClinVar dbSNP
17g.31261814A>CCA399000495NF1c.483A>C (p.Pro161=)
c.4663A>C (p.Ser1555Arg)
n.787A>C
c.672A>C
n.1326A>C
c.4711A>C (p.Ser1571Arg)
c.4681A>C (p.Ser1561Arg)
c.4618A>C (p.Ser1540Arg)
c.3616A>C (p.Ser1206Arg)
n.3154A>C
c.4720A>C (p.Ser1574Arg)
c.4672A>C (p.Ser1558Arg)
c.4648A>C (p.Ser1550Arg)
c.4708A>C (p.Ser1570Arg)
17g.31261814A>GCA399000496NF1c.483A>G (p.Pro161=)
c.4663A>G (p.Ser1555Gly)
n.787A>G
c.672A>G
n.1326A>G
c.4711A>G (p.Ser1571Gly)
c.4681A>G (p.Ser1561Gly)
c.4618A>G (p.Ser1540Gly)
c.3616A>G (p.Ser1206Gly)
n.3154A>G
c.4720A>G (p.Ser1574Gly)
c.4672A>G (p.Ser1558Gly)
c.4648A>G (p.Ser1550Gly)
c.4708A>G (p.Ser1570Gly)
 ClinVar
17g.31261814A>TCA399000499NF1c.483A>T (p.Pro161=)
c.4663A>T (p.Ser1555Cys)
n.787A>T
c.672A>T
n.1326A>T
c.4711A>T (p.Ser1571Cys)
c.4681A>T (p.Ser1561Cys)
c.4618A>T (p.Ser1540Cys)
c.3616A>T (p.Ser1206Cys)
n.3154A>T
c.4720A>T (p.Ser1574Cys)
c.4672A>T (p.Ser1558Cys)
c.4648A>T (p.Ser1550Cys)
c.4708A>T (p.Ser1570Cys)
 ClinVar dbSNP

Number of alleles fetched