UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31260495_31260496delinsTA | CA2580093259 | NF1 | c.345_346delinsTA (p.Gln116Lys) c.4539_4540delinsTA (p.Gln1514Lys) n.663_664delinsTA c.548_549delinsTA n.1202_1203delinsTA c.4587_4588delinsTA (p.Gln1530Lys) n.1768_1769delinsTA c.4557_4558delinsTA (p.Gln1520Lys) c.4494_4495delinsTA (p.Gln1499Lys) c.3492_3493delinsTA (p.Gln1165Lys) c.1073_1074delinsTA c.1010_1011delinsTA n.3030_3031delinsTA c.4596_4597delinsTA (p.Gln1533Lys) c.4548_4549delinsTA (p.Gln1517Lys) c.4524_4525delinsTA (p.Gln1509Lys) c.4584_4585delinsTA (p.Gln1529Lys) | ClinVar |
| 17 | g.31260496C>A | CA398999872 | NF1 | c.346C>A (p.Gln116Lys) c.4540C>A (p.Gln1514Lys) n.664C>A c.549C>A n.1203C>A c.4588C>A (p.Gln1530Lys) n.1769C>A c.4558C>A (p.Gln1520Lys) c.4495C>A (p.Gln1499Lys) c.3493C>A (p.Gln1165Lys) c.1074C>A c.1011C>A n.3031C>A c.4597C>A (p.Gln1533Lys) c.4549C>A (p.Gln1517Lys) c.4525C>A (p.Gln1509Lys) c.4585C>A (p.Gln1529Lys) | |
| 17 | g.31260496C= | CA2255576469 | NF1 | c.346C= (p.Gln116=) c.4540C= (p.Gln1514=) n.664C= c.549C= n.1203C= c.4588C= (p.Gln1530=) n.1769C= c.4558C= (p.Gln1520=) c.4495C= (p.Gln1499=) c.3493C= (p.Gln1165=) c.1074C= c.1011C= n.3031C= c.4597C= (p.Gln1533=) c.4549C= (p.Gln1517=) c.4525C= (p.Gln1509=) c.4585C= (p.Gln1529=) | |
| 17 | g.31260496C>G | CA398999876 | NF1 | c.346C>G (p.Gln116Glu) c.4540C>G (p.Gln1514Glu) n.664C>G c.549C>G n.1203C>G c.4588C>G (p.Gln1530Glu) n.1769C>G c.4558C>G (p.Gln1520Glu) c.4495C>G (p.Gln1499Glu) c.3493C>G (p.Gln1165Glu) c.1074C>G c.1011C>G n.3031C>G c.4597C>G (p.Gln1533Glu) c.4549C>G (p.Gln1517Glu) c.4525C>G (p.Gln1509Glu) c.4585C>G (p.Gln1529Glu) | dbSNP |
| 17 | g.31260496C>T | CA16615644 | NF1 | c.346C>T (p.Gln116Ter) c.4540C>T (p.Gln1514Ter) n.664C>T c.549C>T n.1203C>T c.4588C>T (p.Gln1530Ter) n.1769C>T c.4558C>T (p.Gln1520Ter) c.4495C>T (p.Gln1499Ter) c.3493C>T (p.Gln1165Ter) c.1074C>T c.1011C>T n.3031C>T c.4597C>T (p.Gln1533Ter) c.4549C>T (p.Gln1517Ter) c.4525C>T (p.Gln1509Ter) c.4585C>T (p.Gln1529Ter) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31260497del | CA2580093260 | NF1 | c.347del (p.Gln116ArgfsTer11) c.4541del (p.Gln1514ArgfsTer?) n.665del c.550del n.1204del c.4589del (p.Gln1530ArgfsTer?) n.1770del c.4559del (p.Gln1520ArgfsTer?) c.4496del (p.Gln1499ArgfsTer?) c.3494del (p.Gln1165ArgfsTer?) c.1075del c.1012del n.3032del c.4598del (p.Gln1533ArgfsTer?) c.4550del (p.Gln1517ArgfsTer?) c.4526del (p.Gln1509ArgfsTer?) c.4586del (p.Gln1529ArgfsTer?) | ClinVar |
| 17 | g.31260497A>C | CA398999877 | NF1 | c.347A>C (p.Gln116Pro) c.4541A>C (p.Gln1514Pro) n.665A>C c.550A>C n.1204A>C c.4589A>C (p.Gln1530Pro) n.1770A>C c.4559A>C (p.Gln1520Pro) c.4496A>C (p.Gln1499Pro) c.3494A>C (p.Gln1165Pro) c.1075A>C c.1012A>C n.3032A>C c.4598A>C (p.Gln1533Pro) c.4550A>C (p.Gln1517Pro) c.4526A>C (p.Gln1509Pro) c.4586A>C (p.Gln1529Pro) | |
| 17 | g.31260497A>G | CA398999878 | NF1 | c.347A>G (p.Gln116Arg) c.4541A>G (p.Gln1514Arg) n.665A>G c.550A>G n.1204A>G c.4589A>G (p.Gln1530Arg) n.1770A>G c.4559A>G (p.Gln1520Arg) c.4496A>G (p.Gln1499Arg) c.3494A>G (p.Gln1165Arg) c.1075A>G c.1012A>G n.3032A>G c.4598A>G (p.Gln1533Arg) c.4550A>G (p.Gln1517Arg) c.4526A>G (p.Gln1509Arg) c.4586A>G (p.Gln1529Arg) | |
| 17 | g.31260497A>T | CA398999879 | NF1 | c.347A>T (p.Gln116Leu) c.4541A>T (p.Gln1514Leu) n.665A>T c.550A>T n.1204A>T c.4589A>T (p.Gln1530Leu) n.1770A>T c.4559A>T (p.Gln1520Leu) c.4496A>T (p.Gln1499Leu) c.3494A>T (p.Gln1165Leu) c.1075A>T c.1012A>T n.3032A>T c.4598A>T (p.Gln1533Leu) c.4550A>T (p.Gln1517Leu) c.4526A>T (p.Gln1509Leu) c.4586A>T (p.Gln1529Leu) | dbSNP |
| 17 | g.31260498G>A | CA499233748 | NF1 | c.348G>A (p.Gln116=) c.4542G>A (p.Gln1514=) n.666G>A c.551G>A n.1205G>A c.4590G>A (p.Gln1530=) n.1771G>A c.4560G>A (p.Gln1520=) c.4497G>A (p.Gln1499=) c.3495G>A (p.Gln1165=) c.1076G>A c.1013G>A n.3033G>A c.4599G>A (p.Gln1533=) c.4551G>A (p.Gln1517=) c.4527G>A (p.Gln1509=) c.4587G>A (p.Gln1529=) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31260498G>C | CA398999882 | NF1 | c.348G>C (p.Gln116His) c.4542G>C (p.Gln1514His) n.666G>C c.551G>C n.1205G>C c.4590G>C (p.Gln1530His) n.1771G>C c.4560G>C (p.Gln1520His) c.4497G>C (p.Gln1499His) c.3495G>C (p.Gln1165His) c.1076G>C c.1013G>C n.3033G>C c.4599G>C (p.Gln1533His) c.4551G>C (p.Gln1517His) c.4527G>C (p.Gln1509His) c.4587G>C (p.Gln1529His) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31260498G= | CA2255576476 | NF1 | c.348G= (p.Gln116=) c.4542G= (p.Gln1514=) n.666G= c.551G= n.1205G= c.4590G= (p.Gln1530=) n.1771G= c.4560G= (p.Gln1520=) c.4497G= (p.Gln1499=) c.3495G= (p.Gln1165=) c.1076G= c.1013G= n.3033G= c.4599G= (p.Gln1533=) c.4551G= (p.Gln1517=) c.4527G= (p.Gln1509=) c.4587G= (p.Gln1529=) | |
| 17 | g.31260498G>T | CA398999884 | NF1 | c.348G>T (p.Gln116His) c.4542G>T (p.Gln1514His) n.666G>T c.551G>T n.1205G>T c.4590G>T (p.Gln1530His) n.1771G>T c.4560G>T (p.Gln1520His) c.4497G>T (p.Gln1499His) c.3495G>T (p.Gln1165His) c.1076G>T c.1013G>T n.3033G>T c.4599G>T (p.Gln1533His) c.4551G>T (p.Gln1517His) c.4527G>T (p.Gln1509His) c.4587G>T (p.Gln1529His) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31260498dup | CA2695225705 | NF1 | c.348dup (p.Tyr117ValfsTer?) c.4542dup (p.Tyr1515ValfsTer9) n.666dup c.551dup n.1205dup c.4590dup (p.Tyr1531ValfsTer9) n.1771dup c.4560dup (p.Tyr1521ValfsTer9) c.4497dup (p.Tyr1500ValfsTer9) c.3495dup (p.Tyr1166ValfsTer9) c.1076dup c.1013dup n.3033dup c.4599dup (p.Tyr1534ValfsTer9) c.4551dup (p.Tyr1518ValfsTer9) c.4527dup (p.Tyr1510ValfsTer9) c.4587dup (p.Tyr1530ValfsTer9) | |
| 17 | g.31260499del | CA2573153655 | NF1 | c.349del (p.Tyr117IlefsTer10) c.4543del (p.Tyr1515IlefsTer?) n.667del c.552del n.1206del c.4591del (p.Tyr1531IlefsTer?) n.1772del c.4561del (p.Tyr1521IlefsTer?) c.4498del (p.Tyr1500IlefsTer?) c.3496del (p.Tyr1166IlefsTer?) c.1077del c.1014del n.3034del c.4600del (p.Tyr1534IlefsTer?) c.4552del (p.Tyr1518IlefsTer?) c.4528del (p.Tyr1510IlefsTer?) c.4588del (p.Tyr1530IlefsTer?) | ClinVar dbSNP |
| 17 | g.31260499T>A | CA398999888 | NF1 | c.349T>A (p.Tyr117Asn) c.4543T>A (p.Tyr1515Asn) n.667T>A c.552T>A n.1206T>A c.4591T>A (p.Tyr1531Asn) n.1772T>A c.4561T>A (p.Tyr1521Asn) c.4498T>A (p.Tyr1500Asn) c.3496T>A (p.Tyr1166Asn) c.1077T>A c.1014T>A n.3034T>A c.4600T>A (p.Tyr1534Asn) c.4552T>A (p.Tyr1518Asn) c.4528T>A (p.Tyr1510Asn) c.4588T>A (p.Tyr1530Asn) | dbSNP |
| 17 | g.31260499T>C | CA398999891 | NF1 | c.349T>C (p.Tyr117His) c.4543T>C (p.Tyr1515His) n.667T>C c.552T>C n.1206T>C c.4591T>C (p.Tyr1531His) n.1772T>C c.4561T>C (p.Tyr1521His) c.4498T>C (p.Tyr1500His) c.3496T>C (p.Tyr1166His) c.1077T>C c.1014T>C n.3034T>C c.4600T>C (p.Tyr1534His) c.4552T>C (p.Tyr1518His) c.4528T>C (p.Tyr1510His) c.4588T>C (p.Tyr1530His) | |
| 17 | g.31260499T>G | CA398999892 | NF1 | c.349T>G (p.Tyr117Asp) c.4543T>G (p.Tyr1515Asp) n.667T>G c.552T>G n.1206T>G c.4591T>G (p.Tyr1531Asp) n.1772T>G c.4561T>G (p.Tyr1521Asp) c.4498T>G (p.Tyr1500Asp) c.3496T>G (p.Tyr1166Asp) c.1077T>G c.1014T>G n.3034T>G c.4600T>G (p.Tyr1534Asp) c.4552T>G (p.Tyr1518Asp) c.4528T>G (p.Tyr1510Asp) c.4588T>G (p.Tyr1530Asp) | dbSNP |
| 17 | g.31260499dup | CA2580093262 | NF1 | c.349dup (p.Tyr117LeufsTer?) c.4543dup (p.Tyr1515LeufsTer9) n.667dup c.552dup n.1206dup c.4591dup (p.Tyr1531LeufsTer9) n.1772dup c.4561dup (p.Tyr1521LeufsTer9) c.4498dup (p.Tyr1500LeufsTer9) c.3496dup (p.Tyr1166LeufsTer9) c.1077dup c.1014dup n.3034dup c.4600dup (p.Tyr1534LeufsTer9) c.4552dup (p.Tyr1518LeufsTer9) c.4528dup (p.Tyr1510LeufsTer9) c.4588dup (p.Tyr1530LeufsTer9) | ClinVar |
| 17 | g.31260500_31260501dup | CA2695225707 | NF1 | c.350_351dup (p.Leu118IlefsTer10) c.4544_4545dup (p.Leu1516IlefsTer?) n.668_669dup c.553_554dup n.1207_1208dup c.4592_4593dup (p.Leu1532IlefsTer?) n.1773_1774dup c.4562_4563dup (p.Leu1522IlefsTer?) c.4499_4500dup (p.Leu1501IlefsTer?) c.3497_3498dup (p.Leu1167IlefsTer?) c.1078_1079dup c.1015_1016dup n.3035_3036dup c.4601_4602dup (p.Leu1535IlefsTer?) c.4553_4554dup (p.Leu1519IlefsTer?) c.4529_4530dup (p.Leu1511IlefsTer?) c.4589_4590dup (p.Leu1531IlefsTer?) | |
| 17 | g.31260499_31260506del | CA2695225706 | NF1 | c.349_356del (p.Tyr117GlnfsTer?) c.4543_4550del (p.Tyr1515GlnfsTer6) n.667_674del c.552_559del n.1206_1213del c.4591_4598del (p.Tyr1531GlnfsTer6) n.1772_1779del c.4561_4568del (p.Tyr1521GlnfsTer6) c.4498_4505del (p.Tyr1500GlnfsTer6) c.3496_3503del (p.Tyr1166GlnfsTer6) c.1077_1084del c.1014_1021del n.3034_3041del c.4600_4607del (p.Tyr1534GlnfsTer6) c.4552_4559del (p.Tyr1518GlnfsTer6) c.4528_4535del (p.Tyr1510GlnfsTer6) c.4588_4595del (p.Tyr1530GlnfsTer6) | |
| 17 | g.31260500A= | CA2255576485 | NF1 | c.350A= (p.Tyr117=) c.4544A= (p.Tyr1515=) n.668A= c.553A= n.1207A= c.4592A= (p.Tyr1531=) n.1773A= c.4562A= (p.Tyr1521=) c.4499A= (p.Tyr1500=) c.3497A= (p.Tyr1166=) c.1078A= c.1015A= n.3035A= c.4601A= (p.Tyr1534=) c.4553A= (p.Tyr1518=) c.4529A= (p.Tyr1510=) c.4589A= (p.Tyr1530=) | |
| 17 | g.31260500A>C | CA398999894 | NF1 | c.350A>C (p.Tyr117Ser) c.4544A>C (p.Tyr1515Ser) n.668A>C c.553A>C n.1207A>C c.4592A>C (p.Tyr1531Ser) n.1773A>C c.4562A>C (p.Tyr1521Ser) c.4499A>C (p.Tyr1500Ser) c.3497A>C (p.Tyr1166Ser) c.1078A>C c.1015A>C n.3035A>C c.4601A>C (p.Tyr1534Ser) c.4553A>C (p.Tyr1518Ser) c.4529A>C (p.Tyr1510Ser) c.4589A>C (p.Tyr1530Ser) | dbSNP |
| 17 | g.31260500A>G | CA398999896 | NF1 | c.350A>G (p.Tyr117Cys) c.4544A>G (p.Tyr1515Cys) n.668A>G c.553A>G n.1207A>G c.4592A>G (p.Tyr1531Cys) n.1773A>G c.4562A>G (p.Tyr1521Cys) c.4499A>G (p.Tyr1500Cys) c.3497A>G (p.Tyr1166Cys) c.1078A>G c.1015A>G n.3035A>G c.4601A>G (p.Tyr1534Cys) c.4553A>G (p.Tyr1518Cys) c.4529A>G (p.Tyr1510Cys) c.4589A>G (p.Tyr1530Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.31260500A>T | CA398999899 | NF1 | c.350A>T (p.Tyr117Phe) c.4544A>T (p.Tyr1515Phe) n.668A>T c.553A>T n.1207A>T c.4592A>T (p.Tyr1531Phe) n.1773A>T c.4562A>T (p.Tyr1521Phe) c.4499A>T (p.Tyr1500Phe) c.3497A>T (p.Tyr1166Phe) c.1078A>T c.1015A>T n.3035A>T c.4601A>T (p.Tyr1534Phe) c.4553A>T (p.Tyr1518Phe) c.4529A>T (p.Tyr1510Phe) c.4589A>T (p.Tyr1530Phe) | ClinVar dbSNP |
| 17 | g.31260501del | CA2573153656 | NF1 | c.351del (p.Leu118PhefsTer9) c.4545del (p.Leu1516PhefsTer?) n.669del c.554del n.1208del c.4593del (p.Leu1532PhefsTer?) n.1774del c.4563del (p.Leu1522PhefsTer?) c.4500del (p.Leu1501PhefsTer?) c.3498del (p.Leu1167PhefsTer?) c.1079del c.1016del n.3036del c.4602del (p.Leu1535PhefsTer?) c.4554del (p.Leu1519PhefsTer?) c.4530del (p.Leu1511PhefsTer?) c.4590del (p.Leu1531PhefsTer?) | ClinVar dbSNP |
| 17 | g.31260501T>A | CA398999902 | NF1 | c.351T>A (p.Tyr117Ter) c.4545T>A (p.Tyr1515Ter) n.669T>A c.554T>A n.1208T>A c.4593T>A (p.Tyr1531Ter) n.1774T>A c.4563T>A (p.Tyr1521Ter) c.4500T>A (p.Tyr1500Ter) c.3498T>A (p.Tyr1166Ter) c.1079T>A c.1016T>A n.3036T>A c.4602T>A (p.Tyr1534Ter) c.4554T>A (p.Tyr1518Ter) c.4530T>A (p.Tyr1510Ter) c.4590T>A (p.Tyr1530Ter) | |
| 17 | g.31260501T>C | CA499233750 | NF1 | c.351T>C (p.Tyr117=) c.4545T>C (p.Tyr1515=) n.669T>C c.554T>C n.1208T>C c.4593T>C (p.Tyr1531=) n.1774T>C c.4563T>C (p.Tyr1521=) c.4500T>C (p.Tyr1500=) c.3498T>C (p.Tyr1166=) c.1079T>C c.1016T>C n.3036T>C c.4602T>C (p.Tyr1534=) c.4554T>C (p.Tyr1518=) c.4530T>C (p.Tyr1510=) c.4590T>C (p.Tyr1530=) | |
| 17 | g.31260501T>G | CA398999906 | NF1 | c.351T>G (p.Tyr117Ter) c.4545T>G (p.Tyr1515Ter) n.669T>G c.554T>G n.1208T>G c.4593T>G (p.Tyr1531Ter) n.1774T>G c.4563T>G (p.Tyr1521Ter) c.4500T>G (p.Tyr1500Ter) c.3498T>G (p.Tyr1166Ter) c.1079T>G c.1016T>G n.3036T>G c.4602T>G (p.Tyr1534Ter) c.4554T>G (p.Tyr1518Ter) c.4530T>G (p.Tyr1510Ter) c.4590T>G (p.Tyr1530Ter) | ClinVar dbSNP |
| 17 | g.31260502_31260503del | CA645582462 | NF1 | c.352_353del (p.Leu118PhefsTer?) c.4546_4547del (p.Leu1516PhefsTer7) n.670_671del c.555_556del n.1209_1210del c.4594_4595del (p.Leu1532PhefsTer7) n.1775_1776del c.4564_4565del (p.Leu1522PhefsTer7) c.4501_4502del (p.Leu1501PhefsTer7) c.3499_3500del (p.Leu1167PhefsTer7) c.1080_1081del c.1017_1018del n.3037_3038del c.4603_4604del (p.Leu1535PhefsTer7) c.4555_4556del (p.Leu1519PhefsTer7) c.4531_4532del (p.Leu1511PhefsTer7) c.4591_4592del (p.Leu1531PhefsTer7) | COSMIC |
| 17 | g.31260502C>A | CA398999913 | NF1 | c.352C>A (p.Leu118Ile) c.4546C>A (p.Leu1516Ile) n.670C>A c.555C>A n.1209C>A c.4594C>A (p.Leu1532Ile) n.1775C>A c.4564C>A (p.Leu1522Ile) c.4501C>A (p.Leu1501Ile) c.3499C>A (p.Leu1167Ile) c.1080C>A c.1017C>A n.3037C>A c.4603C>A (p.Leu1535Ile) c.4555C>A (p.Leu1519Ile) c.4531C>A (p.Leu1511Ile) c.4591C>A (p.Leu1531Ile) | dbSNP |
| 17 | g.31260502C= | CA2255576488 | NF1 | c.352C= (p.Leu118=) c.4546C= (p.Leu1516=) n.670C= c.555C= n.1209C= c.4594C= (p.Leu1532=) n.1775C= c.4564C= (p.Leu1522=) c.4501C= (p.Leu1501=) c.3499C= (p.Leu1167=) c.1080C= c.1017C= n.3037C= c.4603C= (p.Leu1535=) c.4555C= (p.Leu1519=) c.4531C= (p.Leu1511=) c.4591C= (p.Leu1531=) | |
| 17 | g.31260502C>G | CA398999908 | NF1 | c.352C>G (p.Leu118Val) c.4546C>G (p.Leu1516Val) n.670C>G c.555C>G n.1209C>G c.4594C>G (p.Leu1532Val) n.1775C>G c.4564C>G (p.Leu1522Val) c.4501C>G (p.Leu1501Val) c.3499C>G (p.Leu1167Val) c.1080C>G c.1017C>G n.3037C>G c.4603C>G (p.Leu1535Val) c.4555C>G (p.Leu1519Val) c.4531C>G (p.Leu1511Val) c.4591C>G (p.Leu1531Val) | dbSNP |
| 17 | g.31260502C>T | CA398999910 | NF1 | c.352C>T (p.Leu118Phe) c.4546C>T (p.Leu1516Phe) n.670C>T c.555C>T n.1209C>T c.4594C>T (p.Leu1532Phe) n.1775C>T c.4564C>T (p.Leu1522Phe) c.4501C>T (p.Leu1501Phe) c.3499C>T (p.Leu1167Phe) c.1080C>T c.1017C>T n.3037C>T c.4603C>T (p.Leu1535Phe) c.4555C>T (p.Leu1519Phe) c.4531C>T (p.Leu1511Phe) c.4591C>T (p.Leu1531Phe) | dbSNP |
| 17 | g.31260503T>A | CA398999922 | NF1 | c.353T>A (p.Leu118His) c.4547T>A (p.Leu1516His) n.671T>A c.556T>A n.1210T>A c.4595T>A (p.Leu1532His) n.1776T>A c.4565T>A (p.Leu1522His) c.4502T>A (p.Leu1501His) c.3500T>A (p.Leu1167His) c.1081T>A c.1018T>A n.3038T>A c.4604T>A (p.Leu1535His) c.4556T>A (p.Leu1519His) c.4532T>A (p.Leu1511His) c.4592T>A (p.Leu1531His) | dbSNP |
| 17 | g.31260503T>C | CA398999927 | NF1 | c.353T>C (p.Leu118Pro) c.4547T>C (p.Leu1516Pro) n.671T>C c.556T>C n.1210T>C c.4595T>C (p.Leu1532Pro) n.1776T>C c.4565T>C (p.Leu1522Pro) c.4502T>C (p.Leu1501Pro) c.3500T>C (p.Leu1167Pro) c.1081T>C c.1018T>C n.3038T>C c.4604T>C (p.Leu1535Pro) c.4556T>C (p.Leu1519Pro) c.4532T>C (p.Leu1511Pro) c.4592T>C (p.Leu1531Pro) | ClinVar dbSNP |
| 17 | g.31260503T>G | CA398999929 | NF1 | c.353T>G (p.Leu118Arg) c.4547T>G (p.Leu1516Arg) n.671T>G c.556T>G n.1210T>G c.4595T>G (p.Leu1532Arg) n.1776T>G c.4565T>G (p.Leu1522Arg) c.4502T>G (p.Leu1501Arg) c.3500T>G (p.Leu1167Arg) c.1081T>G c.1018T>G n.3038T>G c.4604T>G (p.Leu1535Arg) c.4556T>G (p.Leu1519Arg) c.4532T>G (p.Leu1511Arg) c.4592T>G (p.Leu1531Arg) | |
| 17 | g.31260505dup | CA1139665372 | NF1 | c.355dup (p.Ser119PhefsTer?) c.4549dup (p.Ser1517PhefsTer7) n.673dup c.558dup n.1212dup c.4597dup (p.Ser1533PhefsTer7) n.1778dup c.4567dup (p.Ser1523PhefsTer7) c.4504dup (p.Ser1502PhefsTer7) c.3502dup (p.Ser1168PhefsTer7) c.1083dup c.1020dup n.3040dup c.4606dup (p.Ser1536PhefsTer7) c.4558dup (p.Ser1520PhefsTer7) c.4534dup (p.Ser1512PhefsTer7) c.4594dup (p.Ser1532PhefsTer7) | ClinVar dbSNP |
| 17 | g.31260504T>A | CA499233752 | NF1 | c.354T>A (p.Leu118=) c.4548T>A (p.Leu1516=) n.672T>A c.557T>A n.1211T>A c.4596T>A (p.Leu1532=) n.1777T>A c.4566T>A (p.Leu1522=) c.4503T>A (p.Leu1501=) c.3501T>A (p.Leu1167=) c.1082T>A c.1019T>A n.3039T>A c.4605T>A (p.Leu1535=) c.4557T>A (p.Leu1519=) c.4533T>A (p.Leu1511=) c.4593T>A (p.Leu1531=) | dbSNP |
| 17 | g.31260504T>C | CA499233754 | NF1 | c.354T>C (p.Leu118=) c.4548T>C (p.Leu1516=) n.672T>C c.557T>C n.1211T>C c.4596T>C (p.Leu1532=) n.1777T>C c.4566T>C (p.Leu1522=) c.4503T>C (p.Leu1501=) c.3501T>C (p.Leu1167=) c.1082T>C c.1019T>C n.3039T>C c.4605T>C (p.Leu1535=) c.4557T>C (p.Leu1519=) c.4533T>C (p.Leu1511=) c.4593T>C (p.Leu1531=) | |
| 17 | g.31260504T>G | CA499233753 | NF1 | c.354T>G (p.Leu118=) c.4548T>G (p.Leu1516=) n.672T>G c.557T>G n.1211T>G c.4596T>G (p.Leu1532=) n.1777T>G c.4566T>G (p.Leu1522=) c.4503T>G (p.Leu1501=) c.3501T>G (p.Leu1167=) c.1082T>G c.1019T>G n.3039T>G c.4605T>G (p.Leu1535=) c.4557T>G (p.Leu1519=) c.4533T>G (p.Leu1511=) c.4593T>G (p.Leu1531=) | |
| 17 | g.31260505T>A | CA398999931 | NF1 | c.355T>A (p.Ser119Thr) c.4549T>A (p.Ser1517Thr) n.673T>A c.558T>A n.1212T>A c.4597T>A (p.Ser1533Thr) n.1778T>A c.4567T>A (p.Ser1523Thr) c.4504T>A (p.Ser1502Thr) c.3502T>A (p.Ser1168Thr) c.1083T>A c.1020T>A n.3040T>A c.4606T>A (p.Ser1536Thr) c.4558T>A (p.Ser1520Thr) c.4534T>A (p.Ser1512Thr) c.4594T>A (p.Ser1532Thr) | |
| 17 | g.31260505T>C | CA398999932 | NF1 | c.355T>C (p.Ser119Pro) c.4549T>C (p.Ser1517Pro) n.673T>C c.558T>C n.1212T>C c.4597T>C (p.Ser1533Pro) n.1778T>C c.4567T>C (p.Ser1523Pro) c.4504T>C (p.Ser1502Pro) c.3502T>C (p.Ser1168Pro) c.1083T>C c.1020T>C n.3040T>C c.4606T>C (p.Ser1536Pro) c.4558T>C (p.Ser1520Pro) c.4534T>C (p.Ser1512Pro) c.4594T>C (p.Ser1532Pro) | ClinVar |
| 17 | g.31260505T>G | CA398999934 | NF1 | c.355T>G (p.Ser119Ala) c.4549T>G (p.Ser1517Ala) n.673T>G c.558T>G n.1212T>G c.4597T>G (p.Ser1533Ala) n.1778T>G c.4567T>G (p.Ser1523Ala) c.4504T>G (p.Ser1502Ala) c.3502T>G (p.Ser1168Ala) c.1083T>G c.1020T>G n.3040T>G c.4606T>G (p.Ser1536Ala) c.4558T>G (p.Ser1520Ala) c.4534T>G (p.Ser1512Ala) c.4594T>G (p.Ser1532Ala) | |
| 17 | g.31260506C>A | CA398999936 | NF1 | c.356C>A (p.Ser119Tyr) c.4550C>A (p.Ser1517Tyr) n.674C>A c.559C>A n.1213C>A c.4598C>A (p.Ser1533Tyr) n.1779C>A c.4568C>A (p.Ser1523Tyr) c.4505C>A (p.Ser1502Tyr) c.3503C>A (p.Ser1168Tyr) c.1084C>A c.1021C>A n.3041C>A c.4607C>A (p.Ser1536Tyr) c.4559C>A (p.Ser1520Tyr) c.4535C>A (p.Ser1512Tyr) c.4595C>A (p.Ser1532Tyr) | ClinVar dbSNP |
| 17 | g.31260506C>G | CA398999939 | NF1 | c.356C>G (p.Ser119Cys) c.4550C>G (p.Ser1517Cys) n.674C>G c.559C>G n.1213C>G c.4598C>G (p.Ser1533Cys) n.1779C>G c.4568C>G (p.Ser1523Cys) c.4505C>G (p.Ser1502Cys) c.3503C>G (p.Ser1168Cys) c.1084C>G c.1021C>G n.3041C>G c.4607C>G (p.Ser1536Cys) c.4559C>G (p.Ser1520Cys) c.4535C>G (p.Ser1512Cys) c.4595C>G (p.Ser1532Cys) | ClinVar dbSNP |
| 17 | g.31260506C>T | CA398999941 | NF1 | c.356C>T (p.Ser119Phe) c.4550C>T (p.Ser1517Phe) n.674C>T c.559C>T n.1213C>T c.4598C>T (p.Ser1533Phe) n.1779C>T c.4568C>T (p.Ser1523Phe) c.4505C>T (p.Ser1502Phe) c.3503C>T (p.Ser1168Phe) c.1084C>T c.1021C>T n.3041C>T c.4607C>T (p.Ser1536Phe) c.4559C>T (p.Ser1520Phe) c.4535C>T (p.Ser1512Phe) c.4595C>T (p.Ser1532Phe) | dbSNP |
| 17 | g.31260507del | CA658761108 | NF1 | c.357del (p.Ser120AlafsTer7) c.4551del (p.Ser1518AlafsTer?) n.675del c.560del n.1214del c.4599del (p.Ser1534AlafsTer?) n.1780del c.4569del (p.Ser1524AlafsTer?) c.4506del (p.Ser1503AlafsTer?) c.3504del (p.Ser1169AlafsTer?) c.1085del c.1022del n.3042del c.4608del (p.Ser1537AlafsTer?) c.4560del (p.Ser1521AlafsTer?) c.4536del (p.Ser1513AlafsTer?) c.4596del (p.Ser1533AlafsTer?) | |
| 17 | g.31260507C>A | CA499233755 | NF1 | c.357C>A (p.Ser119=) c.4551C>A (p.Ser1517=) n.675C>A c.560C>A n.1214C>A c.4599C>A (p.Ser1533=) n.1780C>A c.4569C>A (p.Ser1523=) c.4506C>A (p.Ser1502=) c.3504C>A (p.Ser1168=) c.1085C>A c.1022C>A n.3042C>A c.4608C>A (p.Ser1536=) c.4560C>A (p.Ser1520=) c.4536C>A (p.Ser1512=) c.4596C>A (p.Ser1532=) | dbSNP gnomAD v4 |
| 17 | g.31260507C= | CA2255576494 | NF1 | c.357C= (p.Ser119=) c.4551C= (p.Ser1517=) n.675C= c.560C= n.1214C= c.4599C= (p.Ser1533=) n.1780C= c.4569C= (p.Ser1523=) c.4506C= (p.Ser1502=) c.3504C= (p.Ser1168=) c.1085C= c.1022C= n.3042C= c.4608C= (p.Ser1536=) c.4560C= (p.Ser1520=) c.4536C= (p.Ser1512=) c.4596C= (p.Ser1532=) |