Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31261715C>A | CA399000097 | NF1 | c.384C>A (p.Ile128=) c.4564C>A (p.His1522Asn) n.688C>A c.573C>A n.1227C>A c.4612C>A (p.His1538Asn) c.4582C>A (p.His1528Asn) c.4519C>A (p.His1507Asn) c.3517C>A (p.His1173Asn) c.1098C>A c.1035C>A n.3055C>A c.4621C>A (p.His1541Asn) c.4573C>A (p.His1525Asn) c.4549C>A (p.His1517Asn) c.4609C>A (p.His1537Asn) | dbSNP |
17 | g.31261715C>G | CA399000100 | NF1 | c.384C>G (p.Ile128Met) c.4564C>G (p.His1522Asp) n.688C>G c.573C>G n.1227C>G c.4612C>G (p.His1538Asp) c.4582C>G (p.His1528Asp) c.4519C>G (p.His1507Asp) c.3517C>G (p.His1173Asp) c.1098C>G c.1035C>G n.3055C>G c.4621C>G (p.His1541Asp) c.4573C>G (p.His1525Asp) c.4549C>G (p.His1517Asp) c.4609C>G (p.His1537Asp) | dbSNP gnomAD v4 |
17 | g.31261715C>T | CA399000099 | NF1 | c.384C>T (p.Ile128=) c.4564C>T (p.His1522Tyr) n.688C>T c.573C>T n.1227C>T c.4612C>T (p.His1538Tyr) c.4582C>T (p.His1528Tyr) c.4519C>T (p.His1507Tyr) c.3517C>T (p.His1173Tyr) c.1098C>T c.1035C>T n.3055C>T c.4621C>T (p.His1541Tyr) c.4573C>T (p.His1525Tyr) c.4549C>T (p.His1517Tyr) c.4609C>T (p.His1537Tyr) | ClinVar dbSNP |
17 | g.31261716A>C | CA399000102 | NF1 | c.385A>C (p.Ile129Leu) c.4565A>C (p.His1522Pro) n.689A>C c.574A>C n.1228A>C c.4613A>C (p.His1538Pro) c.4583A>C (p.His1528Pro) c.4520A>C (p.His1507Pro) c.3518A>C (p.His1173Pro) c.1099A>C c.1036A>C n.3056A>C c.4622A>C (p.His1541Pro) c.4574A>C (p.His1525Pro) c.4550A>C (p.His1517Pro) c.4610A>C (p.His1537Pro) | |
17 | g.31261716A>G | CA399000103 | NF1 | c.385A>G (p.Ile129Val) c.4565A>G (p.His1522Arg) n.689A>G c.574A>G n.1228A>G c.4613A>G (p.His1538Arg) c.4583A>G (p.His1528Arg) c.4520A>G (p.His1507Arg) c.3518A>G (p.His1173Arg) c.1099A>G c.1036A>G n.3056A>G c.4622A>G (p.His1541Arg) c.4574A>G (p.His1525Arg) c.4550A>G (p.His1517Arg) c.4610A>G (p.His1537Arg) | |
17 | g.31261716A>T | CA399000105 | NF1 | c.385A>T (p.Ile129Leu) c.4565A>T (p.His1522Leu) n.689A>T c.574A>T n.1228A>T c.4613A>T (p.His1538Leu) c.4583A>T (p.His1528Leu) c.4520A>T (p.His1507Leu) c.3518A>T (p.His1173Leu) c.1099A>T c.1036A>T n.3056A>T c.4622A>T (p.His1541Leu) c.4574A>T (p.His1525Leu) c.4550A>T (p.His1517Leu) c.4610A>T (p.His1537Leu) | dbSNP |
17 | g.31261717T>A | CA399000109 | NF1 | c.386T>A (p.Ile129Lys) c.4566T>A (p.His1522Gln) n.690T>A c.575T>A n.1229T>A c.4614T>A (p.His1538Gln) c.4584T>A (p.His1528Gln) c.4521T>A (p.His1507Gln) c.3519T>A (p.His1173Gln) c.1100T>A c.1037T>A n.3057T>A c.4623T>A (p.His1541Gln) c.4575T>A (p.His1525Gln) c.4551T>A (p.His1517Gln) c.4611T>A (p.His1537Gln) | |
17 | g.31261717T>C | CA499233830 | NF1 | c.386T>C (p.Ile129Thr) c.4566T>C (p.His1522=) n.690T>C c.575T>C n.1229T>C c.4614T>C (p.His1538=) c.4584T>C (p.His1528=) c.4521T>C (p.His1507=) c.3519T>C (p.His1173=) c.1100T>C c.1037T>C n.3057T>C c.4623T>C (p.His1541=) c.4575T>C (p.His1525=) c.4551T>C (p.His1517=) c.4611T>C (p.His1537=) | |
17 | g.31261717T>G | CA399000111 | NF1 | c.386T>G (p.Ile129Arg) c.4566T>G (p.His1522Gln) n.690T>G c.575T>G n.1229T>G c.4614T>G (p.His1538Gln) c.4584T>G (p.His1528Gln) c.4521T>G (p.His1507Gln) c.3519T>G (p.His1173Gln) c.1100T>G c.1037T>G n.3057T>G c.4623T>G (p.His1541Gln) c.4575T>G (p.His1525Gln) c.4551T>G (p.His1517Gln) c.4611T>G (p.His1537Gln) | |
17 | g.31261718A>C | CA399000113 | NF1 | c.387A>C (p.Ile129=) c.4567A>C (p.Lys1523Gln) n.691A>C c.576A>C n.1230A>C c.4615A>C (p.Lys1539Gln) c.4585A>C (p.Lys1529Gln) c.4522A>C (p.Lys1508Gln) c.3520A>C (p.Lys1174Gln) c.1101A>C c.1038A>C n.3058A>C c.4624A>C (p.Lys1542Gln) c.4576A>C (p.Lys1526Gln) c.4552A>C (p.Lys1518Gln) c.4612A>C (p.Lys1538Gln) | |
17 | g.31261718A>G | CA399000115 | NF1 | c.387A>G (p.Ile129Met) c.4567A>G (p.Lys1523Glu) n.691A>G c.576A>G n.1230A>G c.4615A>G (p.Lys1539Glu) c.4585A>G (p.Lys1529Glu) c.4522A>G (p.Lys1508Glu) c.3520A>G (p.Lys1174Glu) c.1101A>G c.1038A>G n.3058A>G c.4624A>G (p.Lys1542Glu) c.4576A>G (p.Lys1526Glu) c.4552A>G (p.Lys1518Glu) c.4612A>G (p.Lys1538Glu) | ClinVar dbSNP |
17 | g.31261718A>T | CA399000116 | NF1 | c.387A>T (p.Ile129=) c.4567A>T (p.Lys1523Ter) n.691A>T c.576A>T n.1230A>T c.4615A>T (p.Lys1539Ter) c.4585A>T (p.Lys1529Ter) c.4522A>T (p.Lys1508Ter) c.3520A>T (p.Lys1174Ter) c.1101A>T c.1038A>T n.3058A>T c.4624A>T (p.Lys1542Ter) c.4576A>T (p.Lys1526Ter) c.4552A>T (p.Lys1518Ter) c.4612A>T (p.Lys1538Ter) | |
17 | g.31261720dup | CA2580093287 | NF1 | c.389dup (p.Leu131AlafsTer?) c.4569dup (p.Ala1524SerfsTer8) n.693dup c.578dup n.1232dup c.4617dup (p.Ala1540SerfsTer8) c.4587dup (p.Ala1530SerfsTer8) c.4524dup (p.Ala1509SerfsTer8) c.3522dup (p.Ala1175SerfsTer8) c.1103dup c.1040dup n.3060dup c.4626dup (p.Ala1543SerfsTer8) c.4578dup (p.Ala1527SerfsTer8) c.4554dup (p.Ala1519SerfsTer8) c.4614dup (p.Ala1539SerfsTer8) | ClinVar |
17 | g.31261720del | CA2733607974 | NF1 | c.389del (p.Lys130SerfsTer8) c.4569del (p.Ala1524LeufsTer?) n.693del c.578del n.1232del c.4617del (p.Ala1540LeufsTer?) c.4587del (p.Ala1530LeufsTer?) c.4524del (p.Ala1509LeufsTer?) c.3522del (p.Ala1175LeufsTer?) c.1103del c.1040del n.3060del c.4626del (p.Ala1543LeufsTer?) c.4578del (p.Ala1527LeufsTer?) c.4554del (p.Ala1519LeufsTer?) c.4614del (p.Ala1539LeufsTer?) | dbSNP |
17 | g.31261718_31261724dup | CA2580093286 | NF1 | c.387_393dup (p.Leu132LysfsTer?) c.4567_4573dup (p.Val1525GlufsTer9) n.691_697dup c.576_582dup n.1230_1236dup c.4615_4621dup (p.Val1541GlufsTer9) c.4585_4591dup (p.Val1531GlufsTer9) c.4522_4528dup (p.Val1510GlufsTer9) c.3520_3526dup (p.Val1176GlufsTer9) c.1101_1107dup c.1038_1044dup n.3058_3064dup c.4624_4630dup (p.Val1544GlufsTer9) c.4576_4582dup (p.Val1528GlufsTer9) c.4552_4558dup (p.Val1520GlufsTer9) c.4612_4618dup (p.Val1540GlufsTer9) | ClinVar |
17 | g.31261719A= | CA2255577389 | NF1 | c.388A= (p.Lys130=) c.4568A= (p.Lys1523=) n.692A= c.577A= n.1231A= c.4616A= (p.Lys1539=) c.4586A= (p.Lys1529=) c.4523A= (p.Lys1508=) c.3521A= (p.Lys1174=) c.1102A= c.1039A= n.3059A= c.4625A= (p.Lys1542=) c.4577A= (p.Lys1526=) c.4553A= (p.Lys1518=) c.4613A= (p.Lys1538=) | |
17 | g.31261719A>C | CA399000120 | NF1 | c.388A>C (p.Lys130Gln) c.4568A>C (p.Lys1523Thr) n.692A>C c.577A>C n.1231A>C c.4616A>C (p.Lys1539Thr) c.4586A>C (p.Lys1529Thr) c.4523A>C (p.Lys1508Thr) c.3521A>C (p.Lys1174Thr) c.1102A>C c.1039A>C n.3059A>C c.4625A>C (p.Lys1542Thr) c.4577A>C (p.Lys1526Thr) c.4553A>C (p.Lys1518Thr) c.4613A>C (p.Lys1538Thr) | |
17 | g.31261719A>G | CA399000121 | NF1 | c.388A>G (p.Lys130Glu) c.4568A>G (p.Lys1523Arg) n.692A>G c.577A>G n.1231A>G c.4616A>G (p.Lys1539Arg) c.4586A>G (p.Lys1529Arg) c.4523A>G (p.Lys1508Arg) c.3521A>G (p.Lys1174Arg) c.1102A>G c.1039A>G n.3059A>G c.4625A>G (p.Lys1542Arg) c.4577A>G (p.Lys1526Arg) c.4553A>G (p.Lys1518Arg) c.4613A>G (p.Lys1538Arg) | ClinVar dbSNP |
17 | g.31261719A>T | CA399000122 | NF1 | c.388A>T (p.Lys130Ter) c.4568A>T (p.Lys1523Ile) n.692A>T c.577A>T n.1231A>T c.4616A>T (p.Lys1539Ile) c.4586A>T (p.Lys1529Ile) c.4523A>T (p.Lys1508Ile) c.3521A>T (p.Lys1174Ile) c.1102A>T c.1039A>T n.3059A>T c.4625A>T (p.Lys1542Ile) c.4577A>T (p.Lys1526Ile) c.4553A>T (p.Lys1518Ile) c.4613A>T (p.Lys1538Ile) | dbSNP |
17 | g.31261720A>C | CA399000126 | NF1 | c.389A>C (p.Lys130Thr) c.4569A>C (p.Lys1523Asn) n.693A>C c.578A>C n.1232A>C c.4617A>C (p.Lys1539Asn) c.4587A>C (p.Lys1529Asn) c.4524A>C (p.Lys1508Asn) c.3522A>C (p.Lys1174Asn) c.1103A>C c.1040A>C n.3060A>C c.4626A>C (p.Lys1542Asn) c.4578A>C (p.Lys1526Asn) c.4554A>C (p.Lys1518Asn) c.4614A>C (p.Lys1538Asn) | |
17 | g.31261720A>G | CA499233831 | NF1 | c.389A>G (p.Lys130Arg) c.4569A>G (p.Lys1523=) n.693A>G c.578A>G n.1232A>G c.4617A>G (p.Lys1539=) c.4587A>G (p.Lys1529=) c.4524A>G (p.Lys1508=) c.3522A>G (p.Lys1174=) c.1103A>G c.1040A>G n.3060A>G c.4626A>G (p.Lys1542=) c.4578A>G (p.Lys1526=) c.4554A>G (p.Lys1518=) c.4614A>G (p.Lys1538=) | |
17 | g.31261720A>T | CA399000125 | NF1 | c.389A>T (p.Lys130Met) c.4569A>T (p.Lys1523Asn) n.693A>T c.578A>T n.1232A>T c.4617A>T (p.Lys1539Asn) c.4587A>T (p.Lys1529Asn) c.4524A>T (p.Lys1508Asn) c.3522A>T (p.Lys1174Asn) c.1103A>T c.1040A>T n.3060A>T c.4626A>T (p.Lys1542Asn) c.4578A>T (p.Lys1526Asn) c.4554A>T (p.Lys1518Asn) c.4614A>T (p.Lys1538Asn) | |
17 | g.31261721G>A | CA399000128 | NF1 | c.390G>A (p.Lys130=) c.4570G>A (p.Ala1524Thr) n.694G>A c.579G>A n.1233G>A c.4618G>A (p.Ala1540Thr) c.4588G>A (p.Ala1530Thr) c.4525G>A (p.Ala1509Thr) c.3523G>A (p.Ala1175Thr) c.1104G>A c.1041G>A n.3061G>A c.4627G>A (p.Ala1543Thr) c.4579G>A (p.Ala1527Thr) c.4555G>A (p.Ala1519Thr) c.4615G>A (p.Ala1539Thr) | ClinVar dbSNP |
17 | g.31261721G>C | CA399000130 | NF1 | c.390G>C (p.Lys130Asn) c.4570G>C (p.Ala1524Pro) n.694G>C c.579G>C n.1233G>C c.4618G>C (p.Ala1540Pro) c.4588G>C (p.Ala1530Pro) c.4525G>C (p.Ala1509Pro) c.3523G>C (p.Ala1175Pro) c.1104G>C c.1041G>C n.3061G>C c.4627G>C (p.Ala1543Pro) c.4579G>C (p.Ala1527Pro) c.4555G>C (p.Ala1519Pro) c.4615G>C (p.Ala1539Pro) | dbSNP |
17 | g.31261721G>T | CA399000131 | NF1 | c.390G>T (p.Lys130Asn) c.4570G>T (p.Ala1524Ser) n.694G>T c.579G>T n.1233G>T c.4618G>T (p.Ala1540Ser) c.4588G>T (p.Ala1530Ser) c.4525G>T (p.Ala1509Ser) c.3523G>T (p.Ala1175Ser) c.1104G>T c.1041G>T n.3061G>T c.4627G>T (p.Ala1543Ser) c.4579G>T (p.Ala1527Ser) c.4555G>T (p.Ala1519Ser) c.4615G>T (p.Ala1539Ser) | |
17 | g.31261723_31261797del | CA2580093289 | NF1 | c.392_466del (p.Leu131_Trp155del) c.4572_4646del (p.Val1525_Ala1549del) n.696_770del c.581_655del n.1235_1309del c.4620_4694del (p.Val1541_Ala1565del) c.4590_4664del (p.Val1531_Ala1555del) c.4527_4601del (p.Val1510_Ala1534del) c.3525_3599del (p.Val1176_Ala1200del) n.3063_3137del c.4629_4703del (p.Val1544_Ala1568del) c.4581_4655del (p.Val1528_Ala1552del) c.4557_4631del (p.Val1520_Ala1544del) c.4617_4691del (p.Val1540_Ala1564del) | ClinVar |
17 | g.31261722C>A | CA399000133 | NF1 | c.391C>A (p.Leu131Met) c.4571C>A (p.Ala1524Asp) n.695C>A c.580C>A n.1234C>A c.4619C>A (p.Ala1540Asp) c.4589C>A (p.Ala1530Asp) c.4526C>A (p.Ala1509Asp) c.3524C>A (p.Ala1175Asp) c.1105C>A c.1042C>A n.3062C>A c.4628C>A (p.Ala1543Asp) c.4580C>A (p.Ala1527Asp) c.4556C>A (p.Ala1519Asp) c.4616C>A (p.Ala1539Asp) | dbSNP |
17 | g.31261722C= | CA2255577390 | NF1 | c.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=) | |
17 | g.31261722C>G | CA399000135 | NF1 | c.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 |
17 | g.31261722C>T | CA399000137 | NF1 | c.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 |
17 | g.31261722_31261723delinsCT | CA2255577391 | NF1 | c.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=) | |
17 | g.31261723del | CA916080606 | NF1 | c.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 |
17 | g.31261723T>A | CA499233834 | NF1 | c.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=) | |
17 | g.31261723T>C | CA499233833 | NF1 | c.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=) | |
17 | g.31261723T>G | CA499233832 | NF1 | c.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=) | |
17 | g.31261724G>A | CA399000141 | NF1 | c.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 |
17 | g.31261724G>C | CA399000140 | NF1 | c.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 |
17 | g.31261724G>T | CA399000139 | NF1 | c.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 |
17 | g.31261725T>A | CA399000143 | NF1 | c.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 |
17 | g.31261725T>C | CA399000144 | NF1 | c.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) | |
17 | g.31261725T>G | CA399000146 | NF1 | c.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) | |
17 | g.31261726del | CA2514751123 | NF1 | c.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 |
17 | g.31261726T>A | CA499233835 | NF1 | c.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=) | |
17 | g.31261726T>C | CA8486449 | NF1 | c.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 |
17 | g.31261726T>G | CA499233836 | NF1 | c.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=) | |
17 | g.31261726T= | CA2255577392 | NF1 | c.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=) | |
17 | g.31261727G>A | CA399000148 | NF1 | c.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 |
17 | g.31261727G>C | CA399000150 | NF1 | c.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) | |
17 | g.31261727G= | CA2255577393 | NF1 | c.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=) | |
17 | g.31261727G>T | CA399000151 | NF1 | c.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 |
17 | g.31261728G>A | CA399000153 | NF1 | c.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 |
17 | g.31261728G>C | CA399000155 | NF1 | c.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 |
17 | g.31261728G>T | CA399000154 | NF1 | c.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 |
17 | g.31261729A>C | CA499233837 | NF1 | c.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=) | |
17 | g.31261729A>G | CA499233838 | NF1 | c.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=) | |
17 | g.31261729A>T | CA499233839 | NF1 | c.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 |
17 | g.31261730del | CA2499224145 | NF1 | c.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 |
17 | g.31261730A= | CA2255577395 | NF1 | c.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=) | |
17 | g.31261730A>C | CA499233840 | NF1 | c.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=) | |
17 | g.31261730A>G | CA399000156 | NF1 | c.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) | |
17 | g.31261730A>T | CA16620368 | NF1 | c.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 |
17 | g.31261730_31261731delinsAG | CA2255577394 | NF1 | c.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=) | |
17 | g.31261731del | CA16615646 | NF1 | c.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 |
17 | g.31261731G>A | CA399000159 | NF1 | c.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 |
17 | g.31261731G>C | CA399000161 | NF1 | c.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 |
17 | g.31261731G>T | CA399000162 | NF1 | c.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) | |
17 | g.31261731_31261734dup | CA2576223359 | NF1 | c.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) | |
17 | g.31261732del | CA2831039636 | NF1 | c.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?) | |
17 | g.31261732A= | CA2255577396 | NF1 | c.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=) | |
17 | g.31261732A>C | CA399000164 | NF1 | c.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) | |
17 | g.31261732A>G | CA499233841 | NF1 | c.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 |
17 | g.31261732A>T | CA399000166 | NF1 | c.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 |
17 | g.31261733C>A | CA499233842 | NF1 | c.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 |
17 | g.31261733C= | CA2255577397 | NF1 | c.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=) | |
17 | g.31261733C>G | CA399000168 | NF1 | c.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 |
17 | g.31261733C>T | CA350085 | NF1 | c.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 |
17 | g.31261734G>A | CA289353613 | NF1 | c.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 |
17 | g.31261734G>C | CA399000172 | NF1 | c.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 |
17 | g.31261734G= | CA2255577398 | NF1 | c.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=) | |
17 | g.31261734G>T | CA399000174 | NF1 | c.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) | |
17 | g.31261735A= | CA2255577399 | NF1 | c.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=) | |
17 | g.31261735A>C | CA499233843 | NF1 | c.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=) | |
17 | g.31261735A>G | CA499233844 | NF1 | c.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 |
17 | g.31261735A>T | CA499233845 | NF1 | c.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 |
17 | g.31261736C>A | CA399000175 | NF1 | c.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) | |
17 | g.31261736C>G | CA399000178 | NF1 | c.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 |
17 | g.31261736C>T | CA399000176 | NF1 | c.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 |
17 | g.31261737del | CA2697559749 | NF1 | c.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 |
17 | g.31261737C>A | CA399000180 | NF1 | c.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) | |
17 | g.31261737C>G | CA399000181 | NF1 | c.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) | |
17 | g.31261737C>T | CA399000183 | NF1 | c.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) | |
17 | g.31261737_31261739del | CA2580093292 | NF1 | c.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 |
17 | g.31261738T>A | CA499233846 | NF1 | c.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 |
17 | g.31261738T>C | CA499233847 | NF1 | c.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 |
17 | g.31261738T>G | CA499233848 | NF1 | c.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=) | |
17 | g.31261741dup | CA2580093294 | NF1 | c.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 |
17 | g.31261741del | CA2018007658 | NF1 | c.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 |
17 | g.31261739T>A | CA399000185 | NF1 | c.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) | |
17 | g.31261739T>C | CA399000186 | NF1 | c.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) | |
17 | g.31261739T>G | CA399000188 | NF1 | c.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 |
17 | g.31261740T>A | CA399000192 | NF1 | c.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) | |
17 | g.31261740T>C | CA399000190 | NF1 | c.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 |
17 | g.31261740T>G | CA399000191 | NF1 | c.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) | |
17 | g.31261741T>A | CA399000193 | NF1 | c.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) | |
17 | g.31261741T>C | CA499233849 | NF1 | c.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=) | |
17 | g.31261741T>G | CA399000194 | NF1 | c.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) | |
17 | g.31261741_31261744delinsC | CA2499224146 | NF1 | c.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 |
17 | g.31261742G>A | CA399000195 | NF1 | c.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) | |
17 | g.31261742G>C | CA399000196 | NF1 | c.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 |
17 | g.31261742G= | CA2255577400 | NF1 | c.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=) | |
17 | g.31261742G>T | CA399000197 | NF1 | c.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) | |
17 | g.31261743A>C | CA399000199 | NF1 | c.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) | |
17 | g.31261743A>G | CA399000202 | NF1 | c.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) | |
17 | g.31261743A>T | CA399000200 | NF1 | c.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 |
17 | g.31261743dup | CA625477252 | NF1 | c.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 |
17 | g.31261744_31261745del | CA2582342157 | NF1 | c.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 |
17 | g.31261744T>A | CA399000204 | NF1 | c.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) | |
17 | g.31261744T>C | CA499233850 | NF1 | c.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=) | |
17 | g.31261744T>G | CA399000205 | NF1 | c.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) | |
17 | g.31261745A>C | CA399000207 | NF1 | c.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) | |
17 | g.31261745A>G | CA399000208 | NF1 | c.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 |
17 | g.31261745A>T | CA399000211 | NF1 | c.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 |
17 | g.31261746del | CA2739290938 | NF1 | c.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?) | |
17 | g.31261746A>C | CA399000213 | NF1 | c.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) | |
17 | g.31261746A>G | CA399000215 | NF1 | c.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) | |
17 | g.31261746A>T | CA399000217 | NF1 | c.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) | |
17 | g.31261747G>A | CA499233851 | NF1 | c.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=) | |
17 | g.31261747G>C | CA399000219 | NF1 | c.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 |
17 | g.31261747G>T | CA399000221 | NF1 | c.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) | |
17 | g.31261748A= | CA2255577401 | NF1 | c.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=) | |
17 | g.31261748A>C | CA399000223 | NF1 | c.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) | |
17 | g.31261748A>G | CA399000226 | NF1 | c.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 |
17 | g.31261748A>T | CA8486450 | NF1 | c.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 |
17 | g.31261749T>A | CA399000228 | NF1 | c.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 |
17 | g.31261749T>C | CA399000232 | NF1 | c.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 |
17 | g.31261749T>G | CA399000230 | NF1 | c.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) | |
17 | g.31261749T= | CA2255577403 | NF1 | c.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=) | |
17 | g.31261749_31261750delinsTG | CA2255577402 | NF1 | c.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=) | |
17 | g.31261750G>A | CA399000234 | NF1 | c.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 |
17 | g.31261750G>C | CA399000235 | NF1 | c.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 |
17 | g.31261750G>T | CA399000236 | NF1 | c.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 |
17 | g.31261751del | CA915949663 | NF1 | c.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 |
17 | g.31261750_31261763dup | CA891843828 | NF1 | c.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 |
17 | g.31261751G>A | CA399000238 | NF1 | c.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 |
17 | g.31261751G>C | CA399000240 | NF1 | c.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 |
17 | g.31261751G>T | CA399000241 | NF1 | c.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 |
17 | g.31261751_31261755delinsGCAAC | CA2255577404 | NF1 | c.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=) | |
17 | g.31261752del | CA2697559750 | NF1 | c.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 |
17 | g.31261752C>A | CA399000246 | NF1 | c.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 |
17 | g.31261752C>G | CA399000245 | NF1 | c.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 |
17 | g.31261752C>T | CA399000243 | NF1 | c.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 |
17 | g.31261752_31261753delinsCA | CA2255577406 | NF1 | c.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=) | |
17 | g.31261752_31261755delinsAA | CA2255577405 | NF1 | c.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 |
17 | g.31261753A>C | CA499233852 | NF1 | c.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=) | |
17 | g.31261753A>G | CA499233853 | NF1 | c.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 |
17 | g.31261753A>T | CA499233854 | NF1 | c.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=) | |
17 | g.31261754del | CA915949664 | NF1 | c.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 |
17 | g.31261754A= | CA2255577408 | NF1 | c.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=) | |
17 | g.31261754A>C | CA399000247 | NF1 | c.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 |
17 | g.31261754A>G | CA399000249 | NF1 | c.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 |
17 | g.31261754A>T | CA399000251 | NF1 | c.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 |
17 | g.31261754_31261769delinsACACTTCTTGCATACC | CA2255577407 | NF1 | c.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=) | |
17 | g.31261754_31261755insG | CA1139665375 | NF1 | c.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 |
17 | g.31261755C>A | CA399000253 | NF1 | c.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) | |
17 | g.31261755C>G | CA399000255 | NF1 | c.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 |
17 | g.31261755C>T | CA399000257 | NF1 | c.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 |
17 | g.31261755_31261769del | CA16615526 | NF1 | c.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 |
17 | g.31261756A>C | CA499233855 | NF1 | c.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 |
17 | g.31261756A>G | CA499233856 | NF1 | c.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=) | |
17 | g.31261756A>T | CA499233857 | NF1 | c.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 |
17 | g.31261757C>A | CA399000259 | NF1 | c.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) | |
17 | g.31261757C= | CA2255577409 | NF1 | c.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=) | |
17 | g.31261757C>G | CA399000263 | NF1 | c.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 |
17 | g.31261757C>T | CA399000261 | NF1 | c.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 |
17 | g.31261760_31261762del | CA2739267407 | NF1 | c.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 |
17 | g.31261758T>A | CA399000265 | NF1 | c.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) | |
17 | g.31261758T>C | CA399000266 | NF1 | c.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 |
17 | g.31261758T>G | CA399000267 | NF1 | c.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 |
17 | g.31261759del | CA2695225399 | NF1 | c.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?) | |
17 | g.31261759T>A | CA499233858 | NF1 | c.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=) | |
17 | g.31261759T>C | CA499233859 | NF1 | c.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 |
17 | g.31261759T>G | CA499233860 | NF1 | c.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=) | |
17 | g.31261759T= | CA2255577411 | NF1 | c.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=) | |
17 | g.31261759_31261760delinsTC | CA2255577410 | NF1 | c.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=) | |
17 | g.31261760del | CA625477256 | NF1 | c.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 |
17 | g.31261760C>A | CA399000270 | NF1 | c.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) | |
17 | g.31261760C>G | CA399000272 | NF1 | c.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 |
17 | g.31261760C>T | CA399000273 | NF1 | c.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 |
17 | g.31261761T>A | CA399000275 | NF1 | c.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) | |
17 | g.31261761T>C | CA399000276 | NF1 | c.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 |
17 | g.31261761T>G | CA399000278 | NF1 | c.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) | |
17 | g.31261762dup | CA2695225400 | NF1 | c.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) | |
17 | g.31261762del | CA2831039637 | NF1 | c.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?) | |
17 | g.31261762T>A | CA499233861 | NF1 | c.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 |
17 | g.31261762T>C | CA499233862 | NF1 | c.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 |
17 | g.31261762T>G | CA499233863 | NF1 | c.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=) | |
17 | g.31261763G>A | CA399000279 | NF1 | c.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 |
17 | g.31261763G>C | CA399000280 | NF1 | c.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 |
17 | g.31261763G>T | CA399000281 | NF1 | c.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 |
17 | g.31261763_31261764delinsGC | CA2255577412 | NF1 | c.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=) | |
17 | g.31261764del | CA915949665 | NF1 | c.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 |
17 | g.31261764C>A | CA399000288 | NF1 | c.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 |
17 | g.31261764C= | CA2255577413 | NF1 | c.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=) | |
17 | g.31261764C>G | CA399000284 | NF1 | c.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 |
17 | g.31261764C>T | CA399000286 | NF1 | c.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 |
17 | g.31261764dup | CA658761109 | NF1 | c.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) | |
17 | g.31261765A= | CA2255577414 | NF1 | c.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=) | |
17 | g.31261765A>C | CA499233864 | NF1 | c.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=) | |
17 | g.31261765A>G | CA16615243 | NF1 | c.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 |
17 | g.31261765A>T | CA499233865 | NF1 | c.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=) | |
17 | g.31261766T>A | CA399000291 | NF1 | c.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 |
17 | g.31261766T>C | CA399000293 | NF1 | c.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 |
17 | g.31261766T>G | CA399000294 | NF1 | c.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) | |
17 | g.31261766T= | CA2255577415 | NF1 | c.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=) | |
17 | g.31261767A= | CA2255577416 | NF1 | c.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=) | |
17 | g.31261767A>C | CA399000296 | NF1 | c.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 |
17 | g.31261767A>G | CA399000298 | NF1 | c.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 |
17 | g.31261767A>T | CA399000299 | NF1 | c.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 |
17 | g.31261767_31261769del | CA2580093296 | NF1 | c.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 |
17 | g.31261769_31261805del | CA2637082252 | NF1 | c.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 |
17 | g.31261768C>A | CA399000300 | NF1 | c.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 |
17 | g.31261768C= | CA2255577417 | NF1 | c.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=) | |
17 | g.31261768C>G | CA399000303 | NF1 | c.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 |
17 | g.31261768C>T | CA8486451 | NF1 | c.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 |
17 | g.31261769del | CA2695225401 | NF1 | c.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) | |
17 | g.31261769C>A | CA399000305 | NF1 | c.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 |
17 | g.31261769C>G | CA399000307 | NF1 | c.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 |
17 | g.31261769C>T | CA499233866 | NF1 | c.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 |
17 | g.31261770T>A | CA399000311 | NF1 | c.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) | |
17 | g.31261770T>C | CA10580322 | NF1 | c.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 |
17 | g.31261770T>G | CA399000309 | NF1 | c.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 |
17 | g.31261770T= | CA2255577418 | NF1 | c.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=) | |
17 | g.31261770_31261772delinsTGG | CA2255577419 | NF1 | c.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=) | |
17 | g.31261771_31261774del | CA2580093298 | NF1 | c.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 |
17 | g.31261771G>A | CA499233870 | NF1 | c.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 |
17 | g.31261771G>C | CA499233869 | NF1 | c.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 |
17 | g.31261771G>T | CA499233867 | NF1 | c.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 |
17 | g.31261772_31261773dup | CA2580093299 | NF1 | c.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 |
17 | g.31261773del | CA499233868 | NF1 | c.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 |
17 | g.31261772_31261773del | CA2255577420 | NF1 | c.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 |
17 | g.31261772G>A | CA399000314 | NF1 | c.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 |
17 | g.31261772G>C | CA399000315 | NF1 | c.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 |
17 | g.31261772G>T | CA399000317 | NF1 | c.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 |
17 | g.31261773G>A | CA399000319 | NF1 | c.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 |
17 | g.31261773G>C | CA399000321 | NF1 | c.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 |
17 | g.31261773G>T | CA399000322 | NF1 | c.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) | |
17 | g.31261774T>A | CA499233871 | NF1 | c.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 |
17 | g.31261774T>C | CA499233872 | NF1 | c.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 |
17 | g.31261774T>G | CA499233873 | NF1 | c.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 |
17 | g.31261775C>A | CA399000324 | NF1 | c.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) | |
17 | g.31261775C= | CA2255577421 | NF1 | c.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=) | |
17 | g.31261775C>G | CA399000326 | NF1 | c.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 |
17 | g.31261775C>T | CA10580323 | NF1 | c.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 |
17 | g.31261776del | CA2580093301 | NF1 | c.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 |
17 | g.31261776_31261786del | CA645582464 | NF1 | c.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 |
17 | g.31261776C>A | CA399000329 | NF1 | c.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) | |
17 | g.31261776C>G | CA399000331 | NF1 | c.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 |
17 | g.31261776C>T | CA399000333 | NF1 | c.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 |
17 | g.31261777T>A | CA499233874 | NF1 | c.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=) | |
17 | g.31261777T>C | CA289353636 | NF1 | c.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 |
17 | g.31261777T>G | CA499233875 | NF1 | c.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=) | |
17 | g.31261777T= | CA2255577422 | NF1 | c.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=) | |
17 | g.31261778C>A | CA399000339 | NF1 | c.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 |
17 | g.31261778C= | CA2255577423 | NF1 | c.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=) | |
17 | g.31261778C>G | CA399000341 | NF1 | c.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 |
17 | g.31261778C>T | CA399000337 | NF1 | c.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 |
17 | g.31261779del | CA2695225402 | NF1 | c.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) | |
17 | g.31261779C>A | CA399000343 | NF1 | c.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 |
17 | g.31261779C>G | CA399000347 | NF1 | c.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 |
17 | g.31261779C>T | CA399000345 | NF1 | c.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 |
17 | g.31261780A= | CA2255577424 | NF1 | c.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=) | |
17 | g.31261780A>C | CA499233876 | NF1 | c.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=) | |
17 | g.31261780A>G | CA499233877 | NF1 | c.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 |
17 | g.31261780A>T | CA499233878 | NF1 | c.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=) | |
17 | g.31261782_31261783del | CA2695225403 | NF1 | c.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) | |
17 | g.31261781G>A | CA399000348 | NF1 | c.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 |
17 | g.31261781G>C | CA399000349 | NF1 | c.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 |
17 | g.31261781G>T | CA399000350 | NF1 | c.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) | |
17 | g.31261782A= | CA2255577425 | NF1 | c.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=) | |
17 | g.31261782A>C | CA399000353 | NF1 | c.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) | |
17 | g.31261782A>G | CA399000355 | NF1 | c.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 |
17 | g.31261782A>T | CA399000356 | NF1 | c.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) | |
17 | g.31261783G>A | CA499233882 | NF1 | c.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 |
17 | g.31261783G>C | CA399000358 | NF1 | c.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 |
17 | g.31261783G>T | CA399000360 | NF1 | c.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) | |
17 | g.31261784C>A | CA399000362 | NF1 | c.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) | |
17 | g.31261784C>G | CA399000363 | NF1 | c.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 |
17 | g.31261784C>T | CA399000365 | NF1 | c.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 |
17 | g.31261785A= | CA2255577426 | NF1 | c.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=) | |
17 | g.31261785A>C | CA399000370 | NF1 | c.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 |
17 | g.31261785A>G | CA8486452 | NF1 | c.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 |
17 | g.31261785A>T | CA399000368 | NF1 | c.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 |
17 | g.31261787_31261790del | CA2695225404 | NF1 | c.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) | |
17 | g.31261786C>A | CA399000372 | NF1 | c.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) | |
17 | g.31261786C>G | CA399000373 | NF1 | c.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) | |
17 | g.31261786C>T | CA499233883 | NF1 | c.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 |
17 | g.31261787A>C | CA399000376 | NF1 | c.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) | |
17 | g.31261787A>G | CA399000378 | NF1 | c.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 |
17 | g.31261787A>T | CA399000379 | NF1 | c.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 |
17 | g.31261789dup | CA2695225405 | NF1 | c.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) | |
17 | g.31261788A= | CA2255577427 | NF1 | c.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=) | |
17 | g.31261788A>C | CA399000381 | NF1 | c.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 |
17 | g.31261788A>G | CA399000383 | NF1 | c.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 |
17 | g.31261788A>T | CA399000384 | NF1 | c.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) | |
17 | g.31261789A>C | CA399000387 | NF1 | c.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 |
17 | g.31261789A>G | CA499233884 | NF1 | c.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=) | |
17 | g.31261789A>T | CA399000389 | NF1 | c.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 |
17 | g.31261789_31261790delinsAC | CA2255577428 | NF1 | c.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=) | |
17 | g.31261790C>A | CA399000392 | NF1 | c.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 |
17 | g.31261790C= | CA2255577429 | NF1 | c.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=) | |
17 | g.31261790C>G | CA399000394 | NF1 | c.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 |
17 | g.31261790C>T | CA289353653 | NF1 | c.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 |
17 | g.31261791del | CA658824767 | NF1 | c.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 |
17 | g.31261791C>A | CA399000396 | NF1 | c.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 |
17 | g.31261791C= | CA2255577430 | NF1 | c.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=) | |
17 | g.31261791C>G | CA399000398 | NF1 | c.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 |
17 | g.31261791C>T | CA399000400 | NF1 | c.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 |
17 | g.31261792T>A | CA499233887 | NF1 | c.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 |
17 | g.31261792T>C | CA499233889 | NF1 | c.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 |
17 | g.31261792T>G | CA499233890 | NF1 | c.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=) | |
17 | g.31261793G>A | CA399000401 | NF1 | c.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 |
17 | g.31261793G>C | CA399000403 | NF1 | c.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 |
17 | g.31261793G= | CA2255577431 | NF1 | c.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=) | |
17 | g.31261793G>T | CA399000405 | NF1 | c.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) | |
17 | g.31261794T>A | CA399000407 | NF1 | c.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) | |
17 | g.31261794T>C | CA399000409 | NF1 | c.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) | |
17 | g.31261794T>G | CA399000411 | NF1 | c.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 |
17 | g.31261794_31261795delinsTG | CA2255577432 | NF1 | c.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=) | |
17 | g.31261795G>A | CA499233892 | NF1 | c.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 |
17 | g.31261795G>C | CA499233894 | NF1 | c.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 |
17 | g.31261795G>T | CA499233896 | NF1 | c.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=) | |
17 | g.31261796del | CA645582465 | NF1 | c.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 |
17 | g.31261796G>A | CA399000413 | NF1 | c.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 |
17 | g.31261796G>C | CA399000414 | NF1 | c.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 |
17 | g.31261796G= | CA2255577433 | NF1 | c.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=) | |
17 | g.31261796G>T | CA399000416 | NF1 | c.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 |
17 | g.31261797C>A | CA399000420 | NF1 | c.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) | |
17 | g.31261797C>G | CA399000422 | NF1 | c.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 |
17 | g.31261797C>T | CA399000419 | NF1 | c.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 |
17 | g.31261798A= | CA2255577434 | NF1 | c.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=) | |
17 | g.31261798A>C | CA188934 | NF1 | c.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 |
17 | g.31261798A>G | CA499233900 | NF1 | c.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 |
17 | g.31261798A>T | CA499233898 | NF1 | c.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=) | |
17 | g.31261799G>A | CA399000425 | NF1 | c.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 |
17 | g.31261799G>C | CA399000427 | NF1 | c.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 |
17 | g.31261799G>T | CA399000429 | NF1 | c.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) | |
17 | g.31261800A>C | CA399000434 | NF1 | c.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) | |
17 | g.31261800A>G | CA399000433 | NF1 | c.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) | |
17 | g.31261800A>T | CA399000431 | NF1 | c.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 |
17 | g.31261801T>A | CA399000440 | NF1 | c.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) | |
17 | g.31261801T>C | CA8486453 | NF1 | c.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 |
17 | g.31261801T>G | CA399000443 | NF1 | c.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) | |
17 | g.31261801T= | CA2255577435 | NF1 | c.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=) | |
17 | g.31261801_31261802delinsTA | CA2255577436 | NF1 | c.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=) | |
17 | g.31261802del | CA915949667 | NF1 | c.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 |
17 | g.31261802A>C | CA399000445 | NF1 | c.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) | |
17 | g.31261802A>G | CA399000446 | NF1 | c.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 |
17 | g.31261802A>T | CA399000448 | NF1 | c.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 |
17 | g.31261802dup | CA658798807 | NF1 | c.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 |
17 | g.31261806_31261807dup | CA2255577437 | NF1 | c.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 |
17 | g.31261806_31261807del | CA2695225406 | NF1 | c.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) | |
17 | g.31261803C>A | CA399000453 | NF1 | c.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 |
17 | g.31261803C= | CA2255577438 | NF1 | c.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=) | |
17 | g.31261803C>G | CA10580324 | NF1 | c.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 |
17 | g.31261803C>T | CA399000450 | NF1 | c.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 |
17 | g.31261804A= | CA2255577439 | NF1 | c.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=) | |
17 | g.31261804A>C | CA10580325 | NF1 | c.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 |
17 | g.31261804A>G | CA499233903 | NF1 | c.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 |
17 | g.31261804A>T | CA499233904 | NF1 | c.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 |
17 | g.31261805C>A | CA399000459 | NF1 | c.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 |
17 | g.31261805C= | CA2255577440 | NF1 | c.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=) | |
17 | g.31261805C>G | CA399000456 | NF1 | c.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 |
17 | g.31261805C>T | CA399000458 | NF1 | c.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 |
17 | g.31261806A= | CA2255577441 | NF1 | c.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=) | |
17 | g.31261806A>C | CA399000461 | NF1 | c.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) | |
17 | g.31261806A>G | CA399000462 | NF1 | c.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 |
17 | g.31261806A>T | CA399000464 | NF1 | c.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 |
17 | g.31261807C>A | CA399000465 | NF1 | c.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 |
17 | g.31261807C>G | CA399000467 | NF1 | c.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 |
17 | g.31261807C>T | CA499233906 | NF1 | c.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 |
17 | g.31261808T>A | CA399000469 | NF1 | c.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) | |
17 | g.31261808T>C | CA399000471 | NF1 | c.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 |
17 | g.31261808T>G | CA399000472 | NF1 | c.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) | |
17 | g.31261808T= | CA2255577442 | NF1 | c.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=) | |
17 | g.31261808_31261809del | CA2695225407 | NF1 | c.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) | |
17 | g.31261809G>A | CA399000473 | NF1 | c.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 |
17 | g.31261809G>C | CA399000475 | NF1 | c.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 |
17 | g.31261809G= | CA2255577443 | NF1 | c.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=) | |
17 | g.31261809G>T | CA399000477 | NF1 | c.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) | |
17 | g.31261810del | CA2695225408 | NF1 | c.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) | |
17 | g.31261810G>A | CA114180 | NF1 | c.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 |
17 | g.31261810G>C | CA399000481 | NF1 | c.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 |
17 | g.31261810G= | CA2255577444 | NF1 | c.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=) | |
17 | g.31261810G>T | CA399000479 | NF1 | c.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) | |
17 | g.31261810_31261811del | CA2695225409 | NF1 | c.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) | |
17 | g.31261811T>A | CA399000483 | NF1 | c.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) | |
17 | g.31261811T>C | CA399000485 | NF1 | c.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) | |
17 | g.31261811T>G | CA399000487 | NF1 | c.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) | |
17 | g.31261812C>A | CA399000489 | NF1 | c.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 |
17 | g.31261812C>G | CA399000491 | NF1 | c.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 |
17 | g.31261812C>T | CA399000493 | NF1 | c.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 |
17 | g.31261813C>A | CA499233912 | NF1 | c.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 |
17 | g.31261813C= | CA2255577445 | NF1 | c.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=) | |
17 | g.31261813C>G | CA499233913 | NF1 | c.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 |
17 | g.31261813C>T | CA499233914 | NF1 | c.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 |
17 | g.31261814A>C | CA399000495 | NF1 | c.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) | |
17 | g.31261814A>G | CA399000496 | NF1 | c.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 |
17 | g.31261814A>T | CA399000499 | NF1 | c.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 |
17 | g.31261815G>A | CA338364 | NF1 | c.484G>A (p.Ala162Thr) c.4664G>A (p.Ser1555Asn) n.788G>A c.673G>A n.1327G>A c.4712G>A (p.Ser1571Asn) c.4682G>A (p.Ser1561Asn) c.4619G>A (p.Ser1540Asn) c.3617G>A (p.Ser1206Asn) n.3155G>A c.4721G>A (p.Ser1574Asn) c.4673G>A (p.Ser1558Asn) c.4649G>A (p.Ser1550Asn) c.4709G>A (p.Ser1570Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.31261815G>C | CA399000503 | NF1 | c.484G>C (p.Ala162Pro) c.4664G>C (p.Ser1555Thr) n.788G>C c.673G>C n.1327G>C c.4712G>C (p.Ser1571Thr) c.4682G>C (p.Ser1561Thr) c.4619G>C (p.Ser1540Thr) c.3617G>C (p.Ser1206Thr) n.3155G>C c.4721G>C (p.Ser1574Thr) c.4673G>C (p.Ser1558Thr) c.4649G>C (p.Ser1550Thr) c.4709G>C (p.Ser1570Thr) | ClinVar dbSNP |
17 | g.31261815G= | CA2255577446 | NF1 | c.484G= (p.Ala162=) c.4664G= (p.Ser1555=) n.788G= c.673G= n.1327G= c.4712G= (p.Ser1571=) c.4682G= (p.Ser1561=) c.4619G= (p.Ser1540=) c.3617G= (p.Ser1206=) n.3155G= c.4721G= (p.Ser1574=) c.4673G= (p.Ser1558=) c.4649G= (p.Ser1550=) c.4709G= (p.Ser1570=) | |
17 | g.31261815G>T | CA399000505 | NF1 | c.484G>T (p.Ala162Ser) c.4664G>T (p.Ser1555Ile) n.788G>T c.673G>T n.1327G>T c.4712G>T (p.Ser1571Ile) c.4682G>T (p.Ser1561Ile) c.4619G>T (p.Ser1540Ile) c.3617G>T (p.Ser1206Ile) n.3155G>T c.4721G>T (p.Ser1574Ile) c.4673G>T (p.Ser1558Ile) c.4649G>T (p.Ser1550Ile) c.4709G>T (p.Ser1570Ile) | ClinVar |
17 | g.31261815_31261816delinsGC | CA2255577447 | NF1 | c.484_485delinsGC (p.Ala162=) c.4664_4665delinsGC (p.Ser1555=) n.788_789delinsGC c.673_674delinsGC n.1327_1328delinsGC c.4712_4713delinsGC (p.Ser1571=) c.4682_4683delinsGC (p.Ser1561=) c.4619_4620delinsGC (p.Ser1540=) c.3617_3618delinsGC (p.Ser1206=) n.3155_3156delinsGC c.4721_4722delinsGC (p.Ser1574=) c.4673_4674delinsGC (p.Ser1558=) c.4649_4650delinsGC (p.Ser1550=) c.4709_4710delinsGC (p.Ser1570=) |